### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FIG4) # 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}}" "FIG4" "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)" "6" "q21" "unknown" "LRG_241" "UD_132085409515" "" "http://www.LOVD.nl/FIG4" "" "1" "16873" "9896" "609390" "1" "1" "1" "1" "This database is one of the gene variant databases from the:.\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "g" "http://databases.lovd.nl/shared/refseq/FIG4_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00000" "2012-05-23 00:00:00" "00006" "2017-12-28 09:45:55" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000747" "FIG4" "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)" "001" "NM_014845.5" "" "NP_055660.1" "" "" "" "-215" "2890" "2724" "110012424" "110146634" "00000" "2012-09-13 12:51:06" "" "" ## 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" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00622" "ICF2" "immunodeficiency-centromeric instability-facial anomalies syndrome, type 2 (ICF-2)" "AR" "614069" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01714" "YVS" "Yunis Varon syndrome (YVS)" "AR" "216340" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03016" "CMT4J" "Charcot-Marie-Tooth disease, type 4J (CMT-4J)" "AR" "611228" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03160" "ALS11" "sclerosis, lateral, amyotrophic, type type 11 (ALS11)" "AD" "612577" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" "04477" "BTOP" "polymicrogyria?, bilateral temporooccipital (BTOP)" "AR" "612691" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "04669" "SCAR20" "ataxia, spinocerebellar, autosomal recessive, type 20 (SCAR-20)" "AR" "616354" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "FIG4" "01714" "FIG4" "03016" "FIG4" "03160" "FIG4" "04477" ## Individuals ## Do not remove or alter this header ## ## Count = 55 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00035827" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035828" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035829" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035830" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035831" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035832" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035833" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035834" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035835" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00081290" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00100259" "" "" "" "1" "" "01553" "{PMID:van den Boogaard 2017:28128455}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "IVIG" "" "Rf1875-2.2" "00147119" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00151837" "" "" "" "1" "" "00006" "{PMID:Chow 2007:17572665}" "" "" "" "" "" "0" "" "" "" "" "00151838" "" "" "" "1" "" "00006" "{PMID:Nicholson 2011:21705420}" "" "" "" "" "" "0" "" "" "" "" "00151839" "" "" "" "1" "" "00006" "{PMID:Nicholson 2011:21705420}" "" "" "" "" "" "0" "" "" "" "" "00151840" "" "" "" "1" "" "00006" "{PMID:Chow 2009:19118816}" "" "" "" "" "" "0" "" "" "" "" "00151841" "" "" "" "1" "" "00006" "{PMID:Chow 2009:19118816}" "" "" "" "" "" "0" "" "" "" "" "00151842" "" "" "" "1" "" "00006" "{PMID:Chow 2007:17572665}" "" "" "" "" "" "0" "" "" "" "" "00151843" "" "" "" "1" "" "00006" "{PMID:Chow 2009:19118816}" "" "" "" "" "" "0" "" "" "" "" "00151844" "" "" "" "1" "" "00006" "{PMID:Nicholson 2011:21705420}" "" "" "" "" "" "0" "" "" "" "" "00151845" "" "" "" "1" "" "00006" "{PMID:Chow 2009:19118816}" "" "" "" "" "" "0" "" "" "" "" "00151846" "" "" "" "1" "" "00006" "{PMID:Chow 2009:19118816}" "" "" "" "" "" "0" "" "" "" "" "00151847" "" "" "" "1" "" "00006" "{PMID:Nicholson 2011:21705420}" "" "" "" "" "" "0" "" "" "" "" "00151848" "" "" "" "1" "" "00006" "{PMID:Nicholson 2011:21705420}" "" "" "" "" "" "0" "" "" "" "" "00151849" "" "" "" "1" "" "00006" "{PMID:Chow 2009:19118816}" "" "" "" "" "" "0" "" "" "" "" "00151850" "" "" "" "1" "" "00006" "{PMID:Nicholson 2011:21705420}" "" "" "" "" "" "0" "" "" "" "" "00151851" "" "" "" "1" "" "00006" "{PMID:Nicholson 2011:21705420}" "" "" "" "" "" "0" "" "" "" "" "00151852" "" "" "" "1" "" "00006" "{PMID:Nicholson 2011:21705420}" "" "" "" "" "" "0" "" "" "" "" "00151853" "" "" "" "1" "" "00006" "{PMID:Chow 2009:19118816}" "" "" "" "" "" "0" "" "" "" "" "00151854" "" "" "" "1" "" "00006" "{PMID:Chow 2007:17572665}" "" "" "" "" "" "0" "" "" "" "" "00151855" "" "" "" "1" "" "00006" "{PMID:Nicholson 2011:21705420}" "" "" "" "" "" "0" "" "" "" "" "00151856" "" "" "" "1" "" "00006" "{PMID:Chow 2007:17572665}" "" "" "" "" "" "0" "" "" "" "" "00151857" "" "" "" "1" "" "00006" "{PMID:Chow 2007:17572665}" "" "" "" "" "" "0" "" "" "" "" "00151858" "" "" "" "1" "" "00006" "{PMID:Nicholson 2011:21705420}" "" "" "" "" "" "0" "" "" "" "" "00151859" "" "" "" "1" "" "00006" "{PMID:Nicholson 2011:21705420}" "" "" "" "" "" "0" "" "" "" "" "00177014" "" "" "" "2" "" "02552" "{PMID:Abela 2016:26174906}" "3-generation family, affected twin brothers, unaffected heterozygous carrier mother" "M" "no" "Italy" "" "0" "" "" "" "72555" "00219053" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat63" "00219054" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat64" "00293954" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296549" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00299988" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-FIG4-a" "00299989" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300046" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300047" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300130" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-FIG4-b" "00300139" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-FIG4-c" "00300149" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-FIG4-d" "00324468" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "173204" "00385430" "" "" "" "1" "" "01164" "" "prenatal trio-exom analysis" "" "no" "Germany" "" "0" "" "" "" "187559" "00436292" "" "" "" "1" "" "04545" "Lauerova, submitted 2024" "" "M" "" "Czech Republic" "" "0" "" "" "" "" "00436346" "" "" "" "1" "" "04545" "Lauerova, submitted 2024" "" "M" "" "Germany" "" "" "" "" "" "" "00436347" "" "" "" "1" "" "04545" "Lauerova, submitted 2024" "" "M" "" "Czech Republic" "" "" "" "" "" "" "00441138" "" "" "" "1" "" "04593" "" "" "F" "yes" "Chile" "" "0" "" "" "" "" "00448528" "" "" "" "1" "" "04545" "Lauerova, submitted 2024" "" "M" "" "Czech Republic" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 44 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00081290" "03016" "00100259" "00622" "00147119" "00198" "00151837" "05113" "00151838" "05113" "00151839" "05113" "00151840" "04255" "00151841" "04255" "00151842" "05113" "00151844" "05113" "00151845" "04255" "00151846" "04255" "00151847" "05113" "00151848" "05113" "00151850" "05113" "00151851" "05113" "00151852" "05113" "00151854" "05113" "00151855" "05113" "00151856" "05113" "00151857" "05113" "00151858" "05113" "00151859" "05113" "00177014" "00344" "00219053" "05113" "00219054" "05113" "00293954" "00198" "00296549" "00198" "00299988" "05113" "00299989" "00199" "00300046" "05113" "00300047" "05113" "00300130" "05113" "00300139" "00199" "00300149" "00199" "00324468" "03160" "00385430" "01714" "00436292" "03016" "00436346" "03016" "00436347" "03016" "00441138" "03016" "00441138" "04669" "00448528" "03016" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00199, 00344, 00622, 01157, 01714, 03016, 03160, 04255, 04477, 04669, 05113 ## Count = 24 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Weight}}" "{{Phenotype/Infections/Recurrent}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "" "3w" "" "" "" "" "" "" "" "" "" "" "" "0000060870" "03016" "00081290" "01741" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078581" "00622" "00100259" "01553" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119835" "00198" "00147119" "01807" "Unknown" "" "HP:0007327 (Mixed demyelinating and axonal polyneuropathy)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129486" "00198" "00147119" "01807" "Unknown" "" "HP:0003198 (Myopathy)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000141831" "00344" "00177014" "02552" "Familial, X-linked recessive" "" "HP:0001252\r\nHP:0002509\r\nHP:0001266\r\nHP:0000219\r\nHP:0002705\r\nHP:000319\r\nHP:0000286\r\nHP:0000494\r\nHP:0000508\r\nHP:0011359\r\nHP:0100798" "01y00m" "" "" "" "" "" "" "" "" "" "" "" "Snyder-Robinson syndrome" "" "" "0000167610" "05113" "00219053" "00006" "Unknown" "" "CMT4J; no family history" "" "" "" "" "" "" "" "" "" "" "" "" "CMT-4J" "Charcot-Marie-Tooth diseae" "" "0000167611" "05113" "00219054" "00006" "Familial, autosomal recessive" "" "CMT4J" "" "" "" "" "" "" "" "" "" "" "" "" "CMT-4J" "Charcot-Marie-Tooth diseae" "" "0000223956" "00198" "00296549" "01164" "Unknown" "" "Muscular hypotonia (HP:0001252); Distal muscle weakness (HP:0002460)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000227309" "05113" "00299988" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227310" "00199" "00299989" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227367" "05113" "00300046" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227368" "05113" "00300047" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227451" "05113" "00300130" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227460" "00199" "00300139" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227470" "00199" "00300149" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000243011" "03160" "00324468" "01164" "Unknown" "51y" "(+) Abnormality of the nervous system,(+) Abnormality of the peripheral nervous system" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000279225" "01714" "00385430" "01164" "Familial, autosomal recessive" "" "Fetal cystic hygroma, Increased nuchal translucency, Abnormality of the neck" "" "" "" "" "13+5" "" "" "" "" "" "" "" "" "" "" "0000326472" "03016" "00436292" "04545" "Familial, autosomal recessive" "60y" "Gait disturbance HP:0001288\r\nAchilles tendon contracture HP:0001771\r\nPes cavus HP:0001761\r\nLower limb amyotrophy HP:0007210\r\nLower limb muscle weakness HP:0007340\r\nAreflexia HP:0001284\r\nImpaired tactile sensation HP:0010830\r\nDistal upper limb amyotrophy HP:0007149\r\nUpper limb muscle weakness HP:0003484\r\nDemyelinating peripheral neuropathy HP:0007108\r\nSensorimotor neuropathy HP:0007141\r\nParkinsonism HP:0001300" "10y-20y" "" "" "" "Gait disturbance HP:0001288, Achilles tendon contracture HP:0001771" "" "" "" "" "" "" "" "CMT4J with parkinsonism" "" "" "0000326525" "03016" "00436346" "04545" "Familial, autosomal recessive" "70y" "Gait disturbance HP:0001288\r\nImpaired tactile sensation HP:0010830\r\nLower limb muscle weakness HP:0007340\r\nLower limb amyotrophy HP:0007210\r\nUpper limb muscle weakness HP:0003484\r\nDemyelinating peripheral neuropathy HP:0007108\r\nSensorimotor neuropathy HP:0007141\r\nParkinsonism HP:0001300\r\nFoot deformity HP:0001760" "" "" "" "" "" "" "" "" "" "" "" "" "CMT4J with parkinsonism" "" "" "0000326526" "03016" "00436347" "04545" "Familial, autosomal recessive" "50y" "Pes cavus HP:0001761\r\nLower limb muscle weakness HP:0007340\r\nAreflexia HP:0001284\r\nDistal upper limb amyotrophy HP:0007149\r\nUpper limb muscle weakness HP:0003484\r\nGait disturbance HP:0001288\r\nDemyelinating peripheral neuropathy HP:0007108\r\nSensorimotor neuropathy HP:0007141" "<10y" "" "" "" "" "" "" "" "" "" "" "" "CMT4J with parkinsonism" "" "" "0000330577" "03016" "00441138" "04593" "Familial, autosomal recessive" "02y" "HP:0008947; HP:0001263; HP:0001249; HP:0001284; HP:0001266; HP:0000407; HP:0001271" "02y?" "" "" "05y" "" "" "" "" "" "" "" "" "CMT4J" "hypotonia, global developmental delay, areflexia, dysmorphic features" "" "0000330578" "03016" "00441138" "04593" "Familial, autosomal recessive" "02y" "HP:0001271; HP:0006855" "02y?" "" "" "05y" "" "" "" "" "" "" "" "" "SCAR20" "hypotonia, global developmental delay, areflexia, dysmorphic features" "" "0000337703" "03016" "00448528" "04545" "Familial, autosomal recessive" "" "Pes cavus HP:0001761\r\nLower limb muscle weakness HP:0007340\r\nAreflexia HP:0001284\r\nDistal upper limb amyotrophy HP:0007149\r\nUpper limb muscle weakness HP:0003484\r\nGait disturbance HP:0001288\r\nDemyelinating peripheral neuropathy HP:0007108\r\nSensorimotor neuropathy HP:0007141" "<10y" "" "" "" "" "" "" "" "" "" "" "" "CMT4J with parkinsonism" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 55 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000035897" "00035827" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035898" "00035828" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035899" "00035829" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035900" "00035830" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035901" "00035831" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035902" "00035832" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035903" "00035833" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035904" "00035834" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035905" "00035835" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000081403" "00081290" "1" "01741" "01741" "2016-09-29 12:54:42" "" "" "SEQ" "DNA" "" "" "0000100662" "00100259" "1" "01553" "01553" "2017-02-09 12:10:48" "" "" "arrayCNV" "DNA" "" "" "0000147974" "00147119" "1" "01807" "01807" "2018-01-01 18:49:39" "00001" "2020-09-30 12:20:15" "SEQ" "DNA" "" "" "0000152694" "00151837" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152695" "00151838" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152696" "00151839" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152697" "00151840" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152698" "00151841" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152699" "00151842" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152700" "00151843" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152701" "00151844" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152702" "00151845" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152703" "00151846" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152704" "00151847" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152705" "00151848" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152706" "00151849" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152707" "00151850" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152708" "00151851" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152709" "00151852" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152710" "00151853" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152711" "00151854" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152712" "00151855" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152713" "00151856" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152714" "00151857" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152715" "00151858" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000152716" "00151859" "1" "00006" "00006" "2012-11-05 15:20:04" "" "" "SEQ" "DNA" "" "" "0000177906" "00177014" "1" "02552" "02552" "2018-08-16 11:53:07" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000220125" "00219053" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220126" "00219054" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000295122" "00293954" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297659" "00296549" "1" "01164" "01164" "2020-04-08 09:58:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000301104" "00299988" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301105" "00299989" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301162" "00300046" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301163" "00300047" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301246" "00300130" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301255" "00300139" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301265" "00300149" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000325659" "00324468" "1" "01164" "01164" "2020-12-14 12:54:27" "" "" "SEQ-NG-I" "DNA" "" "" "0000386659" "00385430" "1" "01164" "01164" "2021-10-11 12:13:57" "" "" "SEQ-NG-I" "DNA" "Chorionic villi" "" "0000437775" "00436292" "1" "04545" "04545" "2023-08-31 22:19:35" "" "" "SEQ-NG" "DNA" "" "" "0000437828" "00436346" "1" "04545" "04545" "2023-09-03 21:17:14" "" "" "SEQ-NG" "DNA" "" "" "0000437829" "00436347" "1" "04545" "04545" "2023-09-03 21:50:16" "" "" "SEQ-NG" "DNA" "" "" "0000442624" "00441138" "1" "04593" "04593" "2023-11-07 16:33:48" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000450112" "00448528" "1" "04545" "04545" "2024-03-27 19:55:05" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 48 "{{screeningid}}" "{{geneid}}" "0000035897" "FIG4" "0000035898" "FIG4" "0000035899" "FIG4" "0000035900" "FIG4" "0000035901" "FIG4" "0000035902" "FIG4" "0000035903" "FIG4" "0000035904" "FIG4" "0000035905" "FIG4" "0000081403" "FIG4" "0000152694" "FIG4" "0000152695" "FIG4" "0000152696" "FIG4" "0000152697" "FIG4" "0000152698" "FIG4" "0000152699" "FIG4" "0000152700" "FIG4" "0000152701" "FIG4" "0000152702" "FIG4" "0000152703" "FIG4" "0000152704" "FIG4" "0000152705" "FIG4" "0000152706" "FIG4" "0000152707" "FIG4" "0000152708" "FIG4" "0000152709" "FIG4" "0000152710" "FIG4" "0000152711" "FIG4" "0000152712" "FIG4" "0000152713" "FIG4" "0000152714" "FIG4" "0000152715" "FIG4" "0000152716" "FIG4" "0000220125" "FIG4" "0000220126" "FIG4" "0000301104" "FIG4" "0000301105" "FIG4" "0000301162" "FIG4" "0000301163" "FIG4" "0000301246" "FIG4" "0000301255" "FIG4" "0000301265" "FIG4" "0000325659" "FIG4" "0000386659" "FIG4" "0000437775" "FIG4" "0000437828" "FIG4" "0000437829" "FIG4" "0000450112" "FIG4" ## 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 = 208 "{{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}}" "0000004404" "3" "50" "6" "110115166" "110115166" "subst" "0" "00037" "FIG4_000001" "g.110115166T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.109793963T>C" "" "VUS" "" "0000063022" "1" "10" "6" "110110943" "110110943" "subst" "0" "01164" "FIG4_000002" "g.110110943G>T" "" "" "" "" "" "Germline" "" "rs9384723" "0" "" "" "g.109789740G>T" "" "benign" "" "0000063023" "1" "10" "6" "110106234" "110106234" "subst" "0.529015" "01164" "FIG4_000027" "g.110106234A>G" "" "" "" "" "" "Germline" "" "rs10499054" "0" "" "" "g.109785031A>G" "" "benign" "" "0000063024" "1" "50" "6" "110113976" "110113976" "subst" "0" "01164" "FIG4_000003" "g.110113976T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.109792773T>C" "" "VUS" "" "0000063025" "1" "50" "6" "110064259" "110064263" "del" "0" "01164" "FIG4_000044" "g.110064259_110064263del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.109743056_109743060del" "" "VUS" "" "0000063026" "1" "10" "6" "110053837" "110053837" "dup" "0" "01164" "FIG4_000041" "g.110053837dup" "" "" "" "" "" "Germline" "" "rs71764461" "0" "" "" "g.109732634dup" "" "benign" "" "0000063027" "1" "10" "6" "110086126" "110086137" "dup" "0" "01164" "FIG4_000061" "g.110086126_110086137dup" "" "" "" "" "" "Germline" "" "rs71018366" "0" "" "" "g.109764923_109764934dup" "" "benign" "" "0000063028" "1" "10" "6" "110036479" "110036479" "subst" "0" "01164" "FIG4_000040" "g.110036479A>T" "" "" "" "" "" "Germline" "" "rs6924436" "0" "" "" "g.109715276A>T" "" "benign" "" "0000063029" "1" "10" "6" "110059510" "110059510" "subst" "0.391197" "01164" "FIG4_000043" "g.110059510C>A" "" "" "" "" "" "Germline" "" "rs2273752" "0" "" "" "g.109738307C>A" "" "benign" "" "0000063030" "1" "10" "6" "110146303" "110146303" "subst" "0.439099" "01164" "FIG4_000037" "g.110146303G>A" "" "" "" "" "" "Germline" "" "rs9398218" "0" "" "" "g.109825100G>A" "" "benign" "" "0000130532" "0" "70" "6" "110062708" "110062708" "dup" "0" "01741" "FIG4_000038" "g.110062708dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.109741505dup" "" "likely pathogenic" "" "0000162970" "3" "90" "6" "109740389" "110012705" "" "0" "01553" "ZBTB24_000023" "g.(109724312_109740389)_(110012705_110036280)del" "" "{PMID:van den Boogaard 2017:28128455}" "" "g.109734377_110024284del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000241255" "0" "90" "6" "110036336" "110036336" "subst" "0.000993041" "01807" "FIG4_000009" "g.110036336T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.109715133T>C" "" "pathogenic" "" "0000246406" "0" "10" "6" "110106234" "110106234" "subst" "0.529015" "02330" "FIG4_000027" "g.110106234A>G" "" "" "" "FIG4(NM_014845.5):c.1948+3A>G, FIG4(NM_014845.6):c.1948+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109785031A>G" "" "benign" "" "0000246407" "0" "10" "6" "110064928" "110064928" "subst" "0.0789298" "02330" "FIG4_000062" "g.110064928A>T" "" "" "" "FIG4(NM_014845.5):c.1090A>T (p.M364L), FIG4(NM_014845.6):c.1090A>T (p.M364L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109743725A>T" "" "benign" "" "0000247830" "0" "10" "6" "110106234" "110106234" "subst" "0.529015" "02325" "FIG4_000027" "g.110106234A>G" "" "" "" "FIG4(NM_014845.5):c.1948+3A>G, FIG4(NM_014845.6):c.1948+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109785031A>G" "" "benign" "" "0000249857" "0" "10" "6" "110106234" "110106234" "subst" "0.529015" "02329" "FIG4_000027" "g.110106234A>G" "" "" "" "FIG4(NM_014845.5):c.1948+3A>G, FIG4(NM_014845.6):c.1948+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109785031A>G" "" "benign" "" "0000249862" "0" "30" "6" "110064928" "110064928" "subst" "0.0789298" "02329" "FIG4_000062" "g.110064928A>T" "" "" "" "FIG4(NM_014845.5):c.1090A>T (p.M364L), FIG4(NM_014845.6):c.1090A>T (p.M364L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109743725A>T" "" "likely benign" "" "0000250606" "0" "10" "6" "110106234" "110106234" "subst" "0.529015" "02326" "FIG4_000027" "g.110106234A>G" "" "" "" "FIG4(NM_014845.5):c.1948+3A>G, FIG4(NM_014845.6):c.1948+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109785031A>G" "" "benign" "" "0000250611" "0" "10" "6" "110064928" "110064928" "subst" "0.0789298" "02326" "FIG4_000062" "g.110064928A>T" "" "" "" "FIG4(NM_014845.5):c.1090A>T (p.M364L), FIG4(NM_014845.6):c.1090A>T (p.M364L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109743725A>T" "" "benign" "" "0000251371" "0" "10" "6" "110081431" "110081431" "subst" "0.00248361" "02326" "FIG4_000063" "g.110081431A>G" "" "" "" "FIG4(NM_014845.5):c.1138-22A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109760228A>G" "" "benign" "" "0000251372" "0" "10" "6" "110106925" "110106925" "subst" "0" "02326" "FIG4_000027" "g.110106925A>G" "" "" "" "FIG4(NM_014845.5):c.1949-580A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109785722A>G" "" "benign" "" "0000252958" "0" "10" "6" "110106234" "110106234" "subst" "0.529015" "01943" "FIG4_000027" "g.110106234A>G" "" "" "" "FIG4(NM_014845.5):c.1948+3A>G, FIG4(NM_014845.6):c.1948+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109785031A>G" "" "benign" "" "0000252963" "0" "10" "6" "110064928" "110064928" "subst" "0.0789298" "01943" "FIG4_000062" "g.110064928A>T" "" "" "" "FIG4(NM_014845.5):c.1090A>T (p.M364L), FIG4(NM_014845.6):c.1090A>T (p.M364L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109743725A>T" "" "benign" "" "0000276747" "0" "90" "6" "110036336" "110036336" "subst" "0.000993041" "02330" "FIG4_000009" "g.110036336T>C" "" "" "" "FIG4(NM_014845.5):c.122T>C (p.I41T), FIG4(NM_014845.6):c.122T>C (p.I41T, p.(Ile41Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109715133T>C" "" "pathogenic" "" "0000276748" "0" "50" "6" "110106211" "110106211" "subst" "4.06788E-6" "02330" "FIG4_000065" "g.110106211T>A" "" "" "" "FIG4(NM_014845.6):c.1928T>A (p.L643*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109785008T>A" "" "VUS" "" "0000276749" "0" "10" "6" "110107517" "110107517" "subst" "0.267609" "02330" "FIG4_000066" "g.110107517T>C" "" "" "" "FIG4(NM_014845.5):c.1961T>C (p.V654A), FIG4(NM_014845.6):c.1961T>C (p.V654A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109786314T>C" "" "benign" "" "0000276750" "0" "10" "6" "110110787" "110110787" "subst" "0.000686718" "02330" "FIG4_000058" "g.110110787C>G" "" "" "" "FIG4(NM_014845.5):c.2097-10C>G, FIG4(NM_014845.6):c.2097-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109789584C>G" "" "benign" "" "0000276751" "0" "10" "6" "110113766" "110113766" "subst" "0" "02330" "FIG4_000070" "g.110113766T>C" "" "" "" "FIG4(NM_014845.5):c.2377-19T>C, FIG4(NM_014845.6):c.2377-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109792563T>C" "" "benign" "" "0000276753" "0" "10" "6" "110146303" "110146303" "subst" "0.439099" "02330" "FIG4_000037" "g.110146303G>A" "" "" "" "FIG4(NM_014845.5):c.2559G>A (p.S853=), FIG4(NM_014845.6):c.2559G>A (p.S853=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109825100G>A" "" "benign" "" "0000276754" "0" "10" "6" "110012665" "110012665" "subst" "0.0047923" "02330" "FIG4_000033" "g.110012665C>T" "" "" "" "FIG4(NM_014845.5):c.27C>T (p.I9=), FIG4(NM_014845.6):c.27C>T (p.I9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109691462C>T" "" "benign" "" "0000276755" "0" "10" "6" "110048477" "110048477" "subst" "0.00102687" "02330" "FIG4_000039" "g.110048477G>A" "" "" "" "FIG4(NM_014845.5):c.446+9G>A, FIG4(NM_014845.6):c.446+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109727274G>A" "" "benign" "" "0000276757" "0" "10" "6" "110053824" "110053824" "subst" "0" "02330" "FIG4_000029" "g.110053824G>T" "" "" "" "FIG4(NM_014845.6):c.447-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109732621G>T" "" "benign" "" "0000276758" "0" "10" "6" "110059510" "110059510" "subst" "0.391197" "02330" "FIG4_000043" "g.110059510C>A" "" "" "" "FIG4(NM_014845.5):c.647-18C>A, FIG4(NM_014845.6):c.647-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109738307C>A" "" "benign" "" "0000276759" "0" "10" "6" "110012714" "110012714" "subst" "0.00589139" "02330" "FIG4_000035" "g.110012714C>T" "" "" "" "FIG4(NM_014845.5):c.66+10C>T, FIG4(NM_014845.6):c.66+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109691511C>T" "" "benign" "" "0000276760" "0" "10" "6" "110036274" "110036274" "subst" "0.0591437" "02330" "FIG4_000036" "g.110036274T>C" "" "" "" "FIG4(NM_014845.5):c.67-7T>C, FIG4(NM_014845.6):c.67-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109715071T>C" "" "benign" "" "0000276762" "0" "50" "6" "110059640" "110059640" "del" "0" "02330" "FIG4_000052" "g.110059640del" "" "" "" "FIG4(NM_014845.6):c.759del (p.(Phe254Serfs*8)), FIG4(NM_014845.6):c.759delG (p.F254Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109738437del" "" "VUS" "" "0000280801" "0" "30" "6" "110098237" "110098237" "subst" "0.000113767" "02325" "FIG4_000053" "g.110098237C>A" "" "" "" "FIG4(NM_014845.5):c.1863C>A (p.T621=), FIG4(NM_014845.6):c.1863C>A (p.T621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109777034C>A" "" "likely benign" "" "0000280802" "0" "10" "6" "110107517" "110107517" "subst" "0.267609" "02325" "FIG4_000066" "g.110107517T>C" "" "" "" "FIG4(NM_014845.5):c.1961T>C (p.V654A), FIG4(NM_014845.6):c.1961T>C (p.V654A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109786314T>C" "" "benign" "" "0000280803" "0" "10" "6" "110146303" "110146303" "subst" "0.439099" "02325" "FIG4_000037" "g.110146303G>A" "" "" "" "FIG4(NM_014845.5):c.2559G>A (p.S853=), FIG4(NM_014845.6):c.2559G>A (p.S853=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109825100G>A" "" "benign" "" "0000280804" "0" "10" "6" "110053837" "110053837" "dup" "0" "02325" "FIG4_000041" "g.110053837dup" "" "" "" "FIG4(NM_014845.5):c.447-3dupT, FIG4(NM_014845.6):c.447-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109732634dup" "" "benign" "" "0000280805" "0" "10" "6" "110059510" "110059510" "subst" "0.391197" "02325" "FIG4_000043" "g.110059510C>A" "" "" "" "FIG4(NM_014845.5):c.647-18C>A, FIG4(NM_014845.6):c.647-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109738307C>A" "" "benign" "" "0000283210" "0" "10" "6" "110107517" "110107517" "subst" "0.267609" "02329" "FIG4_000066" "g.110107517T>C" "" "" "" "FIG4(NM_014845.5):c.1961T>C (p.V654A), FIG4(NM_014845.6):c.1961T>C (p.V654A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109786314T>C" "" "benign" "" "0000283211" "0" "10" "6" "110113766" "110113766" "subst" "0" "02329" "FIG4_000070" "g.110113766T>C" "" "" "" "FIG4(NM_014845.5):c.2377-19T>C, FIG4(NM_014845.6):c.2377-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109792563T>C" "" "benign" "" "0000283213" "0" "10" "6" "110146303" "110146303" "subst" "0.439099" "02329" "FIG4_000037" "g.110146303G>A" "" "" "" "FIG4(NM_014845.5):c.2559G>A (p.S853=), FIG4(NM_014845.6):c.2559G>A (p.S853=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109825100G>A" "" "benign" "" "0000283214" "0" "10" "6" "110012665" "110012665" "subst" "0.0047923" "02329" "FIG4_000033" "g.110012665C>T" "" "" "" "FIG4(NM_014845.5):c.27C>T (p.I9=), FIG4(NM_014845.6):c.27C>T (p.I9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109691462C>T" "" "benign" "" "0000283216" "0" "30" "6" "110053824" "110053824" "subst" "0" "02329" "FIG4_000029" "g.110053824G>T" "" "" "" "FIG4(NM_014845.6):c.447-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109732621G>T" "" "likely benign" "" "0000283217" "0" "10" "6" "110059510" "110059510" "subst" "0.391197" "02329" "FIG4_000043" "g.110059510C>A" "" "" "" "FIG4(NM_014845.5):c.647-18C>A, FIG4(NM_014845.6):c.647-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109738307C>A" "" "benign" "" "0000283218" "0" "10" "6" "110036274" "110036274" "subst" "0.0591437" "02329" "FIG4_000036" "g.110036274T>C" "" "" "" "FIG4(NM_014845.5):c.67-7T>C, FIG4(NM_014845.6):c.67-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109715071T>C" "" "benign" "" "0000283949" "0" "10" "6" "110107517" "110107517" "subst" "0.267609" "02326" "FIG4_000066" "g.110107517T>C" "" "" "" "FIG4(NM_014845.5):c.1961T>C (p.V654A), FIG4(NM_014845.6):c.1961T>C (p.V654A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109786314T>C" "" "benign" "" "0000283950" "0" "10" "6" "110110787" "110110787" "subst" "0.000686718" "02326" "FIG4_000058" "g.110110787C>G" "" "" "" "FIG4(NM_014845.5):c.2097-10C>G, FIG4(NM_014845.6):c.2097-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109789584C>G" "" "benign" "" "0000283951" "0" "30" "6" "110112898" "110112898" "subst" "0" "02326" "FIG4_000067" "g.110112898G>A" "" "" "" "FIG4(NM_014845.5):c.2376+124G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109791695G>A" "" "likely benign" "" "0000283952" "0" "10" "6" "110113766" "110113766" "subst" "0" "02326" "FIG4_000070" "g.110113766T>C" "" "" "" "FIG4(NM_014845.5):c.2377-19T>C, FIG4(NM_014845.6):c.2377-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109792563T>C" "" "benign" "" "0000283953" "0" "30" "6" "110113715" "110113715" "subst" "0" "02326" "FIG4_000059" "g.110113715G>T" "" "" "" "FIG4(NM_014845.5):c.2377-70G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109792512G>T" "" "likely benign" "" "0000283954" "0" "30" "6" "110113714" "110113714" "subst" "0" "02326" "FIG4_000068" "g.110113714T>G" "" "" "" "FIG4(NM_014845.5):c.2377-71T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109792511T>G" "" "likely benign" "" "0000283955" "0" "30" "6" "110113957" "110113958" "del" "0" "02326" "FIG4_000030" "g.110113957_110113958del" "" "" "" "FIG4(NM_014845.5):c.2459+90_2459+91delTT, FIG4(NM_014845.6):c.2459+90_2459+91delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109792754_109792755del" "" "likely benign" "" "0000283957" "0" "30" "6" "110113958" "110113958" "del" "0" "02326" "FIG4_000031" "g.110113958del" "" "" "" "FIG4(NM_014845.5):c.2459+91delT, FIG4(NM_014845.6):c.2459+91delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109792755del" "" "likely benign" "" "0000283959" "0" "10" "6" "110146303" "110146303" "subst" "0.439099" "02326" "FIG4_000037" "g.110146303G>A" "" "" "" "FIG4(NM_014845.5):c.2559G>A (p.S853=), FIG4(NM_014845.6):c.2559G>A (p.S853=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109825100G>A" "" "benign" "" "0000283960" "0" "30" "6" "110048477" "110048477" "subst" "0.00102687" "02326" "FIG4_000039" "g.110048477G>A" "" "" "" "FIG4(NM_014845.5):c.446+9G>A, FIG4(NM_014845.6):c.446+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109727274G>A" "" "likely benign" "" "0000283961" "0" "30" "6" "110053837" "110053837" "del" "0" "02326" "FIG4_000050" "g.110053837del" "" "" "" "FIG4(NM_014845.5):c.447-3delT, FIG4(NM_014845.6):c.447-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109732634del" "" "likely benign" "" "0000283963" "0" "10" "6" "110059510" "110059510" "subst" "0.391197" "02326" "FIG4_000043" "g.110059510C>A" "" "" "" "FIG4(NM_014845.5):c.647-18C>A, FIG4(NM_014845.6):c.647-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109738307C>A" "" "benign" "" "0000283964" "0" "10" "6" "110012714" "110012714" "subst" "0.00589139" "02326" "FIG4_000035" "g.110012714C>T" "" "" "" "FIG4(NM_014845.5):c.66+10C>T, FIG4(NM_014845.6):c.66+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109691511C>T" "" "benign" "" "0000283965" "0" "10" "6" "110036274" "110036274" "subst" "0.0591437" "02326" "FIG4_000036" "g.110036274T>C" "" "" "" "FIG4(NM_014845.5):c.67-7T>C, FIG4(NM_014845.6):c.67-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109715071T>C" "" "benign" "" "0000287516" "0" "30" "6" "110036316" "110036316" "subst" "0.000146641" "01943" "FIG4_000047" "g.110036316G>A" "" "" "" "FIG4(NM_014845.5):c.102G>A (p.T34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109715113G>A" "" "likely benign" "" "0000287517" "0" "50" "6" "110036326" "110036326" "subst" "4.06974E-6" "01943" "FIG4_000048" "g.110036326G>A" "" "" "" "FIG4(NM_014845.5):c.112G>A (p.V38I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109715123G>A" "" "VUS" "" "0000287518" "0" "50" "6" "110081522" "110081522" "subst" "0" "01943" "FIG4_000064" "g.110081522C>A" "" "" "" "FIG4(NM_014845.5):c.1207C>A (p.Q403K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109760319C>A" "" "VUS" "" "0000287519" "0" "10" "6" "110107517" "110107517" "subst" "0.267609" "01943" "FIG4_000066" "g.110107517T>C" "" "" "" "FIG4(NM_014845.5):c.1961T>C (p.V654A), FIG4(NM_014845.6):c.1961T>C (p.V654A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109786314T>C" "" "benign" "" "0000287520" "0" "10" "6" "110113766" "110113766" "subst" "0" "01943" "FIG4_000070" "g.110113766T>C" "" "" "" "FIG4(NM_014845.5):c.2377-19T>C, FIG4(NM_014845.6):c.2377-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109792563T>C" "" "benign" "" "0000287522" "0" "50" "6" "110146286" "110146286" "subst" "0.000338152" "01943" "FIG4_000034" "g.110146286T>G" "" "" "" "FIG4(NM_014845.5):c.2547-5T>G, FIG4(NM_014845.6):c.2547-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109825083T>G" "" "VUS" "" "0000287523" "0" "10" "6" "110146303" "110146303" "subst" "0.439099" "01943" "FIG4_000037" "g.110146303G>A" "" "" "" "FIG4(NM_014845.5):c.2559G>A (p.S853=), FIG4(NM_014845.6):c.2559G>A (p.S853=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109825100G>A" "" "benign" "" "0000287524" "0" "30" "6" "110012671" "110012671" "subst" "7.07256E-5" "01943" "FIG4_000046" "g.110012671G>C" "" "" "" "FIG4(NM_014845.5):c.33G>C (p.S11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109691468G>C" "" "likely benign" "" "0000287525" "0" "10" "6" "110059510" "110059510" "subst" "0.391197" "01943" "FIG4_000043" "g.110059510C>A" "" "" "" "FIG4(NM_014845.5):c.647-18C>A, FIG4(NM_014845.6):c.647-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109738307C>A" "" "benign" "" "0000287526" "0" "30" "6" "110012714" "110012714" "subst" "0.00589139" "01943" "FIG4_000035" "g.110012714C>T" "" "" "" "FIG4(NM_014845.5):c.66+10C>T, FIG4(NM_014845.6):c.66+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109691511C>T" "" "likely benign" "" "0000287527" "0" "10" "6" "110036274" "110036274" "subst" "0.0591437" "01943" "FIG4_000036" "g.110036274T>C" "" "" "" "FIG4(NM_014845.5):c.67-7T>C, FIG4(NM_014845.6):c.67-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109715071T>C" "" "benign" "" "0000331166" "0" "90" "6" "110036336" "110036336" "subst" "0.000993041" "01804" "FIG4_000009" "g.110036336T>C" "" "" "" "FIG4(NM_014845.5):c.122T>C (p.I41T), FIG4(NM_014845.6):c.122T>C (p.I41T, p.(Ile41Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109715133T>C" "" "pathogenic" "" "0000351529" "0" "90" "6" "110064881" "110064888" "del" "0" "00006" "FIG4_000004" "g.110064881_110064888del" "" "{PMID:Chow 2007:17572665}" "" "c.1043_1050delATCAGGCA" "" "Germline" "" "" "0" "" "" "g.109743678_109743685del" "" "pathogenic" "" "0000351530" "0" "90" "6" "110081456" "110081456" "subst" "3.65836E-5" "00006" "FIG4_000005" "g.110081456C>T" "" "{PMID:Nicholson 2011:21705420}" "" "" "" "Germline" "" "" "0" "" "" "g.109760253C>T" "" "pathogenic" "" "0000351531" "0" "90" "6" "110081462" "110081463" "delins" "0" "00006" "FIG4_000006" "g.110081462_110081463delinsT" "" "{PMID:Nicholson 2011:21705420}" "" "c.1147_1148delAAinsT" "" "Germline" "" "" "0" "" "" "g.109760259_109760260delinsT" "" "pathogenic" "" "0000351532" "0" "90" "6" "110081477" "110081477" "subst" "0" "00006" "FIG4_000007" "g.110081477A>G" "" "{PMID:Chow 2009:19118816}" "" "" "" "Germline" "" "" "0" "" "" "g.109760274A>G" "" "pathogenic" "" "0000351533" "0" "90" "6" "110081522" "110081522" "subst" "0" "00006" "FIG4_000008" "g.110081522C>T" "" "{PMID:Chow 2009:19118816}" "" "" "" "Germline" "" "" "0" "" "" "g.109760319C>T" "" "pathogenic" "" "0000351534" "0" "90" "6" "110036336" "110036336" "subst" "0.000993041" "00006" "FIG4_000009" "g.110036336T>C" "" "{PMID:Chow 2007:17572665}" "" "" "" "Germline" "" "rs121908287" "0" "" "" "g.109715133T>C" "" "pathogenic" "" "0000351535" "0" "90" "6" "110081546" "110081546" "subst" "8.12499E-6" "00006" "FIG4_000010" "g.110081546A>G" "" "{PMID:Chow 2009:19118816}" "" "" "" "Germline" "" "" "0" "" "" "g.109760343A>G" "" "pathogenic" "" "0000351536" "0" "90" "6" "110083395" "110083395" "dup" "0" "00006" "FIG4_000011" "g.110083395dup" "" "{PMID:Nicholson 2011:21705420}" "" "c.1373dupT" "" "Germline" "" "" "0" "" "" "g.109762192dup" "" "pathogenic" "" "0000351537" "0" "90" "6" "110036357" "110036357" "subst" "4.07405E-6" "00006" "FIG4_000012" "g.110036357A>G" "" "{PMID:Chow 2009:19118816}" "" "" "" "Germline" "" "" "0" "" "" "g.109715154A>G" "" "pathogenic" "" "0000351538" "0" "90" "6" "110036371" "110036371" "subst" "0" "00006" "FIG4_000013" "g.110036371G>T" "" "{PMID:Chow 2009:19118816}" "" "" "" "Germline" "" "" "0" "" "" "g.109715168G>T" "" "pathogenic" "" "0000351539" "0" "90" "6" "110088014" "110088014" "dup" "0" "00006" "FIG4_000014" "g.110088014dup" "" "{PMID:Nicholson 2011:21705420}" "" "c.1666dupA" "" "Germline" "" "" "0" "" "" "g.109766811dup" "" "pathogenic" "" "0000351540" "0" "90" "6" "110088023" "110088023" "subst" "8.12308E-6" "00006" "FIG4_000015" "g.110088023A>T" "" "{PMID:Nicholson 2011:21705420}" "" "" "" "Germline" "" "" "0" "" "" "g.109766820A>T" "" "pathogenic" "" "0000351541" "0" "90" "6" "110106223" "110106223" "subst" "8.13319E-5" "00006" "FIG4_000016" "g.110106223A>G" "" "{PMID:Chow 2009:19118816}" "" "" "" "Germline" "" "" "0" "" "" "g.109785020A>G" "" "pathogenic" "" "0000351542" "0" "90" "6" "110107542" "110107542" "dup" "0" "00006" "FIG4_000017" "g.110107542dup" "" "{PMID:Nicholson 2011:21705420}" "" "c.1986dupG" "" "Germline" "" "" "0" "" "" "g.109786339dup" "" "pathogenic" "" "0000351543" "0" "90" "6" "110117975" "110117975" "subst" "2.03097E-5" "00006" "FIG4_000018" "g.110117975C>T" "" "{PMID:Nicholson 2011:21705420}" "" "" "" "Germline" "" "" "0" "" "" "g.109796772C>T" "" "pathogenic" "" "0000351544" "0" "90" "6" "110146439" "110146439" "subst" "2.03583E-5" "00006" "FIG4_000019" "g.110146439C>T" "" "{PMID:Nicholson 2011:21705420}" "" "" "" "Germline" "" "" "0" "" "" "g.109825236C>T" "" "pathogenic" "" "0000351545" "0" "90" "6" "110146449" "110146449" "subst" "4.07252E-6" "00006" "FIG4_000020" "g.110146449T>C" "" "{PMID:Chow 2009:19118816}" "" "" "" "Germline" "" "" "0" "" "" "g.109825246T>C" "" "pathogenic" "" "0000351546" "0" "90" "6" "110048316" "110048316" "del" "0" "00006" "FIG4_000021" "g.110048316del" "" "{PMID:Chow 2007:17572665}" "" "c.294delT" "" "Germline" "" "" "0" "" "" "g.109727113del" "" "pathogenic" "" "0000351547" "0" "90" "6" "110012688" "110012688" "subst" "0" "00006" "FIG4_000022" "g.110012688T>C" "" "{PMID:Nicholson 2011:21705420}" "" "" "" "Germline" "" "" "0" "" "" "g.109691485T>C" "" "pathogenic" "" "0000351548" "0" "90" "6" "110056402" "110056402" "subst" "2.84891E-5" "00006" "FIG4_000023" "g.110056402C>T" "" "{PMID:Chow 2007:17572665}" "" "" "" "Germline" "" "" "0" "" "" "g.109735199C>T" "" "pathogenic" "" "0000351549" "0" "90" "6" "110059640" "110059640" "del" "0" "00006" "FIG4_000024" "g.110059640del" "" "{PMID:Chow 2007:17572665}" "" "c.759delG" "" "Germline" "" "" "0" "" "" "g.109738437del" "" "pathogenic" "" "0000351550" "0" "90" "6" "110062702" "110062709" "del" "0" "00006" "FIG4_000025" "g.110062702_110062709del" "" "{PMID:Nicholson 2011:21705420}" "" "c.831_838delTAAATTTG" "" "Germline" "" "" "0" "" "" "g.109741499_109741506del" "" "pathogenic" "" "0000351551" "0" "90" "6" "110064340" "110064340" "subst" "1.62916E-5" "00006" "FIG4_000026" "g.110064340G>A" "" "{PMID:Nicholson 2011:21705420}" "" "" "" "Germline" "" "" "0" "" "" "g.109743137G>A" "" "pathogenic" "" "0000368953" "0" "90" "6" "110110857" "110110858" "ins" "0" "01807" "FIG4_000071" "g.110110857_110110858insA" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.109789654_109789655insA" "" "pathogenic" "" "0000406005" "11" "70" "6" "110098182" "110098185" "dup" "0" "02552" "FIG4_000072" "g.110098182_110098185dup" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs775015373" "0" "" "" "g.109776979_109776982dup" "" "VUS" "" "0000455019" "2" "90" "6" "110081456" "110081456" "subst" "3.65836E-5" "00006" "FIG4_000005" "g.110081456C>T" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.109760253C>T" "" "pathogenic" "" "0000455020" "1" "90" "6" "110036336" "110036336" "subst" "0.000993041" "00006" "FIG4_000009" "g.110036336T>C" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.109715133T>C" "" "pathogenic" "" "0000455021" "1" "90" "6" "110036336" "110036336" "subst" "0.000993041" "00006" "FIG4_000009" "g.110036336T>C" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.109715133T>C" "" "pathogenic" "" "0000455022" "2" "70" "6" "110062734" "110062734" "subst" "8.14936E-6" "00006" "FIG4_000073" "g.110062734G>T" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG pm1, pm2, pp2, pp3" "Germline" "" "" "0" "" "" "g.109741531G>T" "" "likely pathogenic" "ACMG" "0000526648" "0" "90" "6" "110036336" "110036336" "subst" "0.000993041" "01943" "FIG4_000009" "g.110036336T>C" "" "" "" "FIG4(NM_014845.5):c.122T>C (p.I41T), FIG4(NM_014845.6):c.122T>C (p.I41T, p.(Ile41Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109715133T>C" "" "pathogenic" "" "0000526649" "0" "30" "6" "110048477" "110048477" "subst" "0.00102687" "01943" "FIG4_000039" "g.110048477G>A" "" "" "" "FIG4(NM_014845.5):c.446+9G>A, FIG4(NM_014845.6):c.446+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109727274G>A" "" "likely benign" "" "0000526650" "0" "30" "6" "110053823" "110053823" "dup" "0" "02330" "FIG4_000074" "g.110053823dup" "" "" "" "FIG4(NM_014845.5):c.447-17dupT, FIG4(NM_014845.6):c.447-17dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109732620dup" "" "likely benign" "" "0000526651" "0" "10" "6" "110053823" "110053823" "dup" "0" "02326" "FIG4_000074" "g.110053823dup" "" "" "" "FIG4(NM_014845.5):c.447-17dupT, FIG4(NM_014845.6):c.447-17dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109732620dup" "" "benign" "" "0000526652" "0" "10" "6" "110053836" "110053837" "dup" "0" "02330" "FIG4_000075" "g.110053836_110053837dup" "" "" "" "FIG4(NM_014845.6):c.447-4_447-3dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109732633_109732634dup" "" "benign" "" "0000526653" "0" "30" "6" "110053836" "110053837" "dup" "0" "02329" "FIG4_000075" "g.110053836_110053837dup" "" "" "" "FIG4(NM_014845.6):c.447-4_447-3dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109732633_109732634dup" "" "likely benign" "" "0000526654" "0" "10" "6" "110053837" "110053837" "dup" "0" "02330" "FIG4_000041" "g.110053837dup" "" "" "" "FIG4(NM_014845.5):c.447-3dupT, FIG4(NM_014845.6):c.447-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109732634dup" "" "benign" "" "0000526655" "0" "10" "6" "110053837" "110053837" "dup" "0" "01943" "FIG4_000041" "g.110053837dup" "" "" "" "FIG4(NM_014845.5):c.447-3dupT, FIG4(NM_014845.6):c.447-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109732634dup" "" "benign" "" "0000526656" "0" "10" "6" "110053837" "110053837" "dup" "0" "02329" "FIG4_000041" "g.110053837dup" "" "" "" "FIG4(NM_014845.5):c.447-3dupT, FIG4(NM_014845.6):c.447-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109732634dup" "" "benign" "" "0000526658" "0" "30" "6" "110056403" "110056403" "subst" "2.44212E-5" "01804" "FIG4_000077" "g.110056403G>A" "" "" "" "FIG4(NM_014845.5):c.548G>A (p.(Arg183Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109735200G>A" "" "likely benign" "" "0000526660" "0" "30" "6" "110062705" "110062705" "subst" "0.000293198" "01804" "FIG4_000079" "g.110062705A>T" "" "" "" "FIG4(NM_014845.5):c.834A>T (p.(Lys278Asn)), FIG4(NM_014845.6):c.834A>T (p.K278N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109741502A>T" "" "likely benign" "" "0000526661" "0" "50" "6" "110064355" "110064355" "subst" "1.22185E-5" "01943" "FIG4_000080" "g.110064355G>A" "" "" "" "FIG4(NM_014845.5):c.919G>A (p.D307N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109743152G>A" "" "VUS" "" "0000526663" "0" "30" "6" "110085194" "110085194" "subst" "0" "01943" "FIG4_000082" "g.110085194A>G" "" "" "" "FIG4(NM_014845.5):c.1434+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109763991A>G" "" "likely benign" "" "0000526664" "0" "50" "6" "110086288" "110086288" "subst" "0" "02326" "FIG4_000083" "g.110086288T>C" "" "" "" "FIG4(NM_014845.5):c.1507T>C (p.C503R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109765085T>C" "" "VUS" "" "0000526665" "0" "50" "6" "110086352" "110086352" "subst" "0" "02330" "FIG4_000084" "g.110086352C>G" "" "" "" "FIG4(NM_014845.6):c.1571C>G (p.T524R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109765149C>G" "" "VUS" "" "0000526666" "0" "70" "6" "110107495" "110107495" "subst" "2.03446E-5" "02326" "FIG4_000085" "g.110107495T>G" "" "" "" "FIG4(NM_014845.5):c.1949-10T>G, FIG4(NM_014845.6):c.1949-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109786292T>G" "" "likely pathogenic" "" "0000526668" "0" "30" "6" "110110787" "110110787" "subst" "0.000686718" "01943" "FIG4_000058" "g.110110787C>G" "" "" "" "FIG4(NM_014845.5):c.2097-10C>G, FIG4(NM_014845.6):c.2097-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109789584C>G" "" "likely benign" "" "0000526669" "0" "10" "6" "110113765" "110113766" "ins" "0" "02330" "FIG4_000086" "g.110113765_110113766insC" "" "" "" "FIG4(NM_014845.5):c.2377-20_2377-19insC, FIG4(NM_014845.6):c.2377-20_2377-19insC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109792562_109792563insC" "" "benign" "" "0000526670" "0" "10" "6" "110113765" "110113766" "ins" "0" "01943" "FIG4_000086" "g.110113765_110113766insC" "" "" "" "FIG4(NM_014845.5):c.2377-20_2377-19insC, FIG4(NM_014845.6):c.2377-20_2377-19insC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109792562_109792563insC" "" "benign" "" "0000526671" "0" "10" "6" "110113765" "110113766" "ins" "0" "02329" "FIG4_000086" "g.110113765_110113766insC" "" "" "" "FIG4(NM_014845.5):c.2377-20_2377-19insC, FIG4(NM_014845.6):c.2377-20_2377-19insC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109792562_109792563insC" "" "benign" "" "0000526672" "0" "10" "6" "110113775" "110113775" "del" "0" "02330" "FIG4_000087" "g.110113775del" "" "" "" "FIG4(NM_014845.5):c.2377-10delT, FIG4(NM_014845.6):c.2377-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109792572del" "" "benign" "" "0000526673" "0" "10" "6" "110113775" "110113775" "del" "0" "02326" "FIG4_000087" "g.110113775del" "" "" "" "FIG4(NM_014845.5):c.2377-10delT, FIG4(NM_014845.6):c.2377-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109792572del" "" "benign" "" "0000526674" "0" "30" "6" "110113874" "110113874" "subst" "5.70539E-5" "01804" "FIG4_000088" "g.110113874T>G" "" "" "" "FIG4(NM_014845.5):c.2459+7T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109792671T>G" "" "likely benign" "" "0000526675" "0" "30" "6" "110146286" "110146286" "subst" "0.000338152" "02330" "FIG4_000034" "g.110146286T>G" "" "" "" "FIG4(NM_014845.5):c.2547-5T>G, FIG4(NM_014845.6):c.2547-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109825083T>G" "" "likely benign" "" "0000526676" "0" "30" "6" "110146343" "110146343" "subst" "2.03388E-5" "01804" "FIG4_000089" "g.110146343A>G" "" "" "" "FIG4(NM_014845.5):c.2599A>G (p.(Arg867Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109825140A>G" "" "likely benign" "" "0000526677" "0" "10" "6" "110146588" "110146588" "subst" "0" "02330" "FIG4_000090" "g.110146588C>T" "" "" "" "FIG4(NM_014845.6):c.*120C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109825385C>T" "" "benign" "" "0000609903" "0" "30" "6" "110064874" "110064874" "subst" "3.26158E-5" "02326" "FIG4_000092" "g.110064874T>C" "" "" "" "FIG4(NM_014845.5):c.1040-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109743671T>C" "" "likely benign" "" "0000609904" "0" "50" "6" "110083398" "110083398" "subst" "2.844E-5" "02327" "FIG4_000093" "g.110083398G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109762195G>A" "" "VUS" "" "0000621614" "0" "30" "6" "110012680" "110012680" "subst" "0.000241087" "01943" "FIG4_000091" "g.110012680G>A" "" "" "" "FIG4(NM_014845.5):c.42G>A (p.K14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109691477G>A" "" "likely benign" "" "0000651811" "1" "30" "6" "110037655" "110037655" "subst" "0.00065395" "03575" "FIG4_000094" "g.110037655A>G" "4/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs145337669}" "Germline" "" "rs145337669" "0" "" "" "g.109716452A>G" "" "likely benign" "" "0000655450" "0" "50" "6" "110037655" "110037655" "subst" "0.00065395" "01943" "FIG4_000094" "g.110037655A>G" "" "" "" "FIG4(NM_014845.5):c.173A>G (p.Y58C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109716452A>G" "" "VUS" "" "0000655451" "0" "90" "6" "110056447" "110056447" "subst" "1.22066E-5" "02327" "FIG4_000095" "g.110056447C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109735244C>T" "" "pathogenic" "" "0000655452" "0" "30" "6" "110087924" "110087924" "subst" "0.00117029" "02330" "FIG4_000096" "g.110087924T>A" "" "" "" "FIG4(NM_014845.6):c.1584-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109766721T>A" "" "likely benign" "" "0000655453" "0" "90" "6" "110117975" "110117975" "subst" "2.03097E-5" "01943" "FIG4_000018" "g.110117975C>T" "" "" "" "FIG4(NM_014845.5):c.2467C>T (p.Q823*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109796772C>T" "" "pathogenic" "" "0000660266" "0" "90" "6" "110056402" "110056402" "subst" "2.84891E-5" "01164" "FIG4_000023" "g.110056402C>T" "" "" "" "" "" "Germline" "" "rs121908288" "0" "" "" "g.109735199C>T" "" "pathogenic" "" "0000663999" "0" "90" "6" "110036336" "110036336" "subst" "0.000993041" "00006" "FIG4_000009" "g.110036336T>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs121908287" "0" "" "" "g.109715133T>C" "" "pathogenic (recessive)" "" "0000664000" "0" "90" "6" "110062702" "110062709" "del" "0" "00006" "FIG4_000025" "g.110062702_110062709del" "" "{PMID:Antoniadi 2015:26392352}" "" "c.831_838delTAAATTTG" "" "Germline" "" "" "0" "" "" "g.109741499_109741506del" "" "pathogenic (recessive)" "" "0000664057" "0" "70" "6" "110037763" "110037763" "subst" "0" "00006" "FIG4_000097" "g.110037763G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.109716560G>A" "" "likely pathogenic (recessive)" "" "0000664058" "0" "70" "6" "110107621" "110107621" "dup" "0" "00006" "FIG4_000098" "g.110107621dup" "" "{PMID:Antoniadi 2015:26392352}" "" "c.2065dupA" "" "Germline" "" "" "0" "" "" "g.109786418dup" "" "likely pathogenic (recessive)" "" "0000664141" "0" "90" "6" "110036336" "110036336" "subst" "0.000993041" "00006" "FIG4_000009" "g.110036336T>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs121908287" "0" "" "" "g.109715133T>C" "" "pathogenic (recessive)" "" "0000664150" "0" "90" "6" "110036336" "110036336" "subst" "0.000993041" "00006" "FIG4_000009" "g.110036336T>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs121908287" "0" "" "" "g.109715133T>C" "" "pathogenic (recessive)" "" "0000664160" "0" "90" "6" "110036336" "110036336" "subst" "0.000993041" "00006" "FIG4_000009" "g.110036336T>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs121908287" "0" "" "" "g.109715133T>C" "" "pathogenic (recessive)" "" "0000677589" "0" "10" "6" "110146475" "110146475" "subst" "0.0136502" "02330" "FIG4_000099" "g.110146475C>T" "" "" "" "FIG4(NM_014845.6):c.*7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689601" "0" "10" "6" "110053837" "110053837" "dup" "0" "02326" "FIG4_000041" "g.110053837dup" "" "" "" "FIG4(NM_014845.5):c.447-3dupT, FIG4(NM_014845.6):c.447-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000708795" "0" "90" "6" "110117975" "110117975" "subst" "2.03097E-5" "01164" "FIG4_000018" "g.110117975C>T" "" "PMID:21705420" "" "" "ACMG: PVS1, PS4_mod, PM2, PM3: class 5" "Germline" "?" "" "" "" "" "" "{CV:000447336}" "pathogenic (dominant)" "ACMG" "0000720623" "0" "30" "6" "110062705" "110062705" "subst" "0.000293198" "02330" "FIG4_000079" "g.110062705A>T" "" "" "" "FIG4(NM_014845.5):c.834A>T (p.(Lys278Asn)), FIG4(NM_014845.6):c.834A>T (p.K278N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720624" "0" "50" "6" "110083418" "110083418" "subst" "4.06428E-6" "02330" "FIG4_000100" "g.110083418T>A" "" "" "" "FIG4(NM_014845.6):c.1388+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720625" "0" "50" "6" "110112693" "110112693" "subst" "0" "02330" "FIG4_000101" "g.110112693T>A" "" "" "" "FIG4(NM_014845.6):c.2295T>A (p.D765E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720626" "0" "50" "6" "110118027" "110118028" "del" "0" "02330" "FIG4_000102" "g.110118027_110118028del" "" "" "" "FIG4(NM_014845.5):c.2519_2520delCT (p.S840*), FIG4(NM_014845.6):c.2519_2520delCT (p.S840*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802256" "0" "30" "6" "110081591" "110081591" "subst" "0.000105674" "01943" "FIG4_000103" "g.110081591A>G" "" "" "" "FIG4(NM_014845.5):c.1271+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802257" "0" "30" "6" "110110854" "110110854" "subst" "9.3423E-5" "01943" "FIG4_000104" "g.110110854A>G" "" "" "" "FIG4(NM_014845.5):c.2154A>G (p.P718=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802258" "0" "30" "6" "110113774" "110113775" "del" "0" "02330" "FIG4_000105" "g.110113774_110113775del" "" "" "" "FIG4(NM_014845.6):c.2377-11_2377-10delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000814314" "21" "90" "6" "110036336" "110036336" "subst" "0.000993041" "01164" "FIG4_000009" "g.110036336T>C" "" "PMID: 28051077, 28859335, 28430856, 18261132, 25617005, 21655088, 24878229, 17572665, 20630877, 23489662, 27549087" "" "" "ACMG: PS3, PS4, PM3_STR, PP1, PP3" "Germline" "?" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000814315" "11" "70" "6" "110048470" "110048470" "subst" "0" "01164" "FIG4_000106" "g.110048470T>C" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000851032" "0" "30" "6" "110083408" "110083408" "subst" "8.12506E-6" "02330" "FIG4_000108" "g.110083408A>G" "" "" "" "FIG4(NM_014845.5):c.1386A>G (p.E462=), FIG4(NM_014845.6):c.1386A>G (p.E462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851033" "0" "50" "6" "110112758" "110112758" "subst" "1.22047E-5" "02330" "FIG4_000112" "g.110112758G>A" "" "" "" "FIG4(NM_014845.6):c.2360G>A (p.S787N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851034" "0" "50" "6" "110112763" "110112763" "subst" "0" "02330" "FIG4_000113" "g.110112763A>G" "" "" "" "FIG4(NM_014845.6):c.2365A>G (p.K789E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860066" "0" "10" "6" "110012665" "110012665" "subst" "0.0047923" "02326" "FIG4_000033" "g.110012665C>T" "" "" "" "FIG4(NM_014845.5):c.27C>T (p.I9=), FIG4(NM_014845.6):c.27C>T (p.I9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860067" "0" "10" "6" "110048500" "110048500" "dup" "0" "02330" "FIG4_000107" "g.110048500dup" "" "" "" "FIG4(NM_014845.6):c.446+32dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860068" "0" "10" "6" "110107197" "110107197" "subst" "0" "02330" "FIG4_000109" "g.110107197G>A" "" "" "" "FIG4(NM_014845.6):c.1949-308G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860069" "0" "10" "6" "110110554" "110110554" "subst" "0" "02330" "FIG4_000110" "g.110110554A>C" "" "" "" "FIG4(NM_014845.6):c.2097-243A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860070" "0" "50" "6" "110110816" "110110816" "subst" "2.03113E-5" "02330" "FIG4_000111" "g.110110816G>A" "" "" "" "FIG4(NM_014845.6):c.2116G>A (p.V706I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860071" "0" "10" "6" "110110943" "110110943" "subst" "0" "02330" "FIG4_000002" "g.110110943G>T" "" "" "" "FIG4(NM_014845.6):c.2180+63G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860072" "0" "10" "6" "110113957" "110113958" "del" "0" "02330" "FIG4_000030" "g.110113957_110113958del" "" "" "" "FIG4(NM_014845.5):c.2459+90_2459+91delTT, FIG4(NM_014845.6):c.2459+90_2459+91delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860073" "0" "10" "6" "110113958" "110113958" "del" "0" "02330" "FIG4_000031" "g.110113958del" "" "" "" "FIG4(NM_014845.5):c.2459+91delT, FIG4(NM_014845.6):c.2459+91delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860074" "0" "90" "6" "110118027" "110118028" "del" "0" "01943" "FIG4_000102" "g.110118027_110118028del" "" "" "" "FIG4(NM_014845.5):c.2519_2520delCT (p.S840*), FIG4(NM_014845.6):c.2519_2520delCT (p.S840*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886982" "0" "30" "6" "110113874" "110113874" "subst" "5.70539E-5" "02326" "FIG4_000088" "g.110113874T>G" "" "" "" "FIG4(NM_014845.5):c.2459+7T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912378" "0" "10" "6" "110081557" "110081557" "subst" "0.00208" "02330" "FIG4_000114" "g.110081557T>C" "" "" "" "FIG4(NM_014845.6):c.1242T>C (p.I414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912379" "0" "10" "6" "110146497" "110146497" "subst" "0.0429601" "02325" "FIG4_000115" "g.110146497G>A" "" "" "" "FIG4(NM_014845.6):c.*29G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924404" "0" "30" "6" "110059539" "110059539" "subst" "0.000280698" "01804" "FIG4_000116" "g.110059539A>G" "" "" "" "FIG4(NM_014845.5):c.658A>G (p.(Ile220Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929129" "0" "30" "6" "110056482" "110056482" "subst" "0.000418822" "02330" "FIG4_000117" "g.110056482A>G" "" "" "" "FIG4(NM_014845.6):c.627A>G (p.L209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933191" "0" "70" "6" "110062664" "110062664" "subst" "4.0711E-6" "04545" "FIG4_000118" "g.110062664C>T" "0.0000039858" "Lauerova, submitted 2024" "" "" "" "Germline/De novo (untested)" "" "rs774294963" "0" "" "" "g.109741461C>T" "" "pathogenic" "ACMG" "0000933246" "0" "70" "6" "110053838" "110053838" "subst" "0" "04545" "FIG4_000119" "g.110053838A>C" "" "Lauerova, submitted 2024" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.109732635A>C" "" "pathogenic (recessive)" "" "0000933247" "0" "70" "6" "110056352" "110056352" "subst" "0" "04545" "FIG4_000120" "g.110056352G>A" "" "Lauerova, submitted 2024" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.109735149G>A" "" "pathogenic (recessive)" "ACMG" "0000944297" "3" "70" "6" "110036336" "110036336" "subst" "0.000993041" "04593" "FIG4_000009" "g.110036336T>C" "" "" "" "" "" "Germline" "yes" "rs121908287" "0" "" "" "g.109715133T>C" "VCV000001721.66" "pathogenic (recessive)" "ACMG" "0000948611" "0" "30" "6" "110048322" "110048322" "subst" "2.43902E-5" "02330" "FIG4_000121" "g.110048322G>A" "" "" "" "FIG4(NM_014845.6):c.300G>A (p.R100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963775" "0" "50" "6" "110085156" "110085156" "subst" "2.84326E-5" "01804" "FIG4_000122" "g.110085156G>A" "" "" "" "FIG4(NM_014845.5):c.1405G>A (p.(Gly469Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963776" "0" "50" "6" "110088099" "110088099" "del" "0" "02330" "FIG4_000123" "g.110088099del" "" "" "" "FIG4(NM_014845.6):c.1750delG (p.D584Mfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000972055" "0" "90" "6" "110036336" "110036336" "subst" "0.000993041" "04545" "FIG4_000009" "g.110036336T>C" "" "Lauerova, submitted 2024" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "109715133T>C" "" "pathogenic (recessive)" "" "0000972057" "0" "90" "6" "110036336" "110036336" "subst" "0.000993041" "04545" "FIG4_000009" "g.110036336T>C" "" "Lauerova, submitted 2024" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.109715133T>C" "" "pathogenic (recessive)" "" "0000972058" "0" "90" "6" "110036336" "110036336" "subst" "0.000993041" "04545" "FIG4_000009" "g.110036336T>C" "" "Lauerova, submitted 2024" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.109715133T>C" "" "pathogenic (recessive)" "" "0000972059" "0" "90" "6" "110036336" "110036336" "subst" "0.000993041" "04545" "FIG4_000009" "g.110036336T>C" "" "Lauerova, submitted 2024" "" "122C>T" "" "Unknown" "" "" "0" "" "" "g.109715133T>C" "" "pathogenic (recessive)" "" "0000972060" "0" "70" "6" "110062664" "110062664" "subst" "4.0711E-6" "04545" "FIG4_000118" "g.110062664C>T" "" "Lauerova, submitted 2024" "" "" "" "Unknown" "" "" "0" "" "" "g.109741461C>T" "" "pathogenic (recessive)" "" "0000976922" "0" "70" "6" "110048339" "110048343" "del" "0" "01804" "FIG4_000124" "g.110048339_110048343del" "" "" "" "FIG4(NM_014845.6):c.317_321del (p.(Tyr106Cysfs*5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976923" "0" "30" "6" "110053837" "110053837" "del" "0" "01804" "FIG4_000050" "g.110053837del" "" "" "" "FIG4(NM_014845.5):c.447-3delT, FIG4(NM_014845.6):c.447-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976924" "0" "90" "6" "110083395" "110083395" "dup" "0" "01804" "FIG4_000011" "g.110083395dup" "" "" "" "FIG4(NM_014845.6):c.1373dup (p.(Leu458Phefs*5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976925" "0" "50" "6" "110098245" "110098245" "subst" "0" "01804" "FIG4_000125" "g.110098245T>C" "" "" "" "FIG4(NM_014845.6):c.1871T>C (p.(Leu624Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976926" "0" "50" "6" "110098253" "110098253" "subst" "0.000125994" "01804" "FIG4_000126" "g.110098253A>G" "" "" "" "FIG4(NM_014845.6):c.1879A>G (p.(Thr627Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976927" "0" "50" "6" "110107652" "110107652" "subst" "5.28198E-5" "01804" "FIG4_000127" "g.110107652G>A" "" "" "" "FIG4(NM_014845.6):c.2096G>A (p.(Arg699His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976928" "0" "50" "6" "110112658" "110112658" "subst" "0" "02329" "FIG4_000128" "g.110112658G>C" "" "" "" "FIG4(NM_014845.6):c.2260G>C (p.V754L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995244" "0" "30" "6" "110037734" "110037734" "subst" "8.12143E-6" "02330" "FIG4_000129" "g.110037734G>A" "" "" "" "FIG4(NM_014845.6):c.252G>A (p.S84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995245" "0" "50" "6" "110086287" "110086287" "dup" "0" "01804" "FIG4_000130" "g.110086287dup" "" "" "" "FIG4(NM_014845.5):c.1506dupA (p.(Cys503fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995246" "0" "50" "6" "110146457" "110146457" "subst" "4.07322E-6" "02325" "FIG4_000131" "g.110146457C>T" "" "" "" "FIG4(NM_014845.6):c.2713C>T (p.R905C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014158" "0" "90" "6" "110036336" "110036336" "subst" "0.000993041" "02325" "FIG4_000009" "g.110036336T>C" "" "" "" "FIG4(NM_014845.5):c.122T>C (p.I41T), FIG4(NM_014845.6):c.122T>C (p.I41T, p.(Ile41Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035403" "0" "70" "6" "110059640" "110059640" "del" "0" "01804" "FIG4_000024" "g.110059640del" "" "" "" "FIG4(NM_014845.6):c.759del (p.(Phe254Serfs*8)), FIG4(NM_014845.6):c.759delG (p.F254Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001035404" "0" "30" "6" "110083408" "110083408" "subst" "8.12506E-6" "02326" "FIG4_000108" "g.110083408A>G" "" "" "" "FIG4(NM_014845.5):c.1386A>G (p.E462=), FIG4(NM_014845.6):c.1386A>G (p.E462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035405" "0" "50" "6" "110086271" "110086271" "subst" "8.12196E-6" "01804" "FIG4_000132" "g.110086271A>T" "" "" "" "FIG4(NM_014845.6):c.1490A>T (p.(Gln497Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035406" "0" "50" "6" "110107495" "110107495" "subst" "2.03446E-5" "01804" "FIG4_000085" "g.110107495T>G" "" "" "" "FIG4(NM_014845.5):c.1949-10T>G, FIG4(NM_014845.6):c.1949-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046044" "0" "30" "6" "110098237" "110098237" "subst" "0.000113767" "02326" "FIG4_000053" "g.110098237C>A" "" "" "" "FIG4(NM_014845.5):c.1863C>A (p.T621=), FIG4(NM_014845.6):c.1863C>A (p.T621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052456" "0" "30" "6" "110056500" "110056500" "subst" "" "01804" "chr6_008502" "g.110056500C>T" "" "" "" "FIG4(NM_014845.6):c.645C>T (p.(Ser215=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052457" "0" "50" "6" "110059611" "110059611" "subst" "" "01804" "chr6_008503" "g.110059611C>T" "" "" "" "FIG4(NM_014845.6):c.730C>T (p.(Arg244Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052458" "0" "50" "6" "110064332" "110064332" "subst" "" "01804" "chr6_008504" "g.110064332T>C" "" "" "" "FIG4(NM_014845.6):c.896T>C (p.(Val299Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052459" "0" "50" "6" "110088076" "110088076" "subst" "" "01804" "chr6_008505" "g.110088076A>G" "" "" "" "FIG4(NM_014845.6):c.1728A>G (p.(Arg576=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052460" "0" "50" "6" "110110847" "110110847" "subst" "" "01804" "chr6_008506" "g.110110847G>A" "" "" "" "FIG4(NM_014845.6):c.2147G>A (p.(Arg716His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FIG4 ## Count = 208 "{{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}}" "0000004404" "00000747" "50" "2459" "1299" "2459" "1299" "c.2459+1299T>C" "r.(=)" "p.(=)" "" "0000063022" "00000747" "10" "2180" "63" "2180" "63" "c.2180+63G>T" "r.(=)" "p.(=)" "" "0000063023" "00000747" "10" "1948" "3" "1948" "3" "c.1948+3A>G" "r.spl?" "p.?" "" "0000063024" "00000747" "50" "2459" "109" "2459" "109" "c.2459+109T>C" "r.(=)" "p.(=)" "" "0000063025" "00000747" "50" "877" "-54" "877" "-50" "c.877-54_877-50del" "r.(=)" "p.(=)" "" "0000063026" "00000747" "10" "447" "-3" "447" "-3" "c.447-3dup" "r.spl?" "p.?" "" "0000063027" "00000747" "10" "1435" "-90" "1435" "-79" "c.1435-90_1435-79dup" "r.(=)" "p.(=)" "" "0000063028" "00000747" "10" "165" "100" "165" "100" "c.165+100A>T" "r.(=)" "p.(=)" "" "0000063029" "00000747" "10" "647" "-18" "647" "-18" "c.647-18C>A" "r.(=)" "p.(=)" "" "0000063030" "00000747" "10" "2559" "0" "2559" "0" "c.2559G>A" "r.(=)" "p.(=)" "" "0000130532" "00000747" "70" "837" "0" "837" "0" "c.837dup" "r.(?)" "p.(Ala280Cysfs*7)" "8" "0000162970" "00000747" "90" "-1" "0" "66" "1" "c.(?_-1)_(66+1_67-1)del" "r.0?" "p.0?" "_1_1i" "0000241255" "00000747" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "2" "0000246406" "00000747" "10" "1948" "3" "1948" "3" "c.1948+3A>G" "r.spl?" "p.?" "" "0000246407" "00000747" "10" "1090" "0" "1090" "0" "c.1090A>T" "r.(?)" "p.(Met364Leu)" "" "0000247830" "00000747" "10" "1948" "3" "1948" "3" "c.1948+3A>G" "r.spl?" "p.?" "" "0000249857" "00000747" "10" "1948" "3" "1948" "3" "c.1948+3A>G" "r.spl?" "p.?" "" "0000249862" "00000747" "30" "1090" "0" "1090" "0" "c.1090A>T" "r.(?)" "p.(Met364Leu)" "" "0000250606" "00000747" "10" "1948" "3" "1948" "3" "c.1948+3A>G" "r.spl?" "p.?" "" "0000250611" "00000747" "10" "1090" "0" "1090" "0" "c.1090A>T" "r.(?)" "p.(Met364Leu)" "" "0000251371" "00000747" "10" "1138" "-22" "1138" "-22" "c.1138-22A>G" "r.(=)" "p.(=)" "" "0000251372" "00000747" "10" "1949" "-580" "1949" "-580" "c.1949-580A>G" "r.(=)" "p.(=)" "" "0000252958" "00000747" "10" "1948" "3" "1948" "3" "c.1948+3A>G" "r.spl?" "p.?" "" "0000252963" "00000747" "10" "1090" "0" "1090" "0" "c.1090A>T" "r.(?)" "p.(Met364Leu)" "" "0000276747" "00000747" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "" "0000276748" "00000747" "50" "1928" "0" "1928" "0" "c.1928T>A" "r.(?)" "p.(Leu643Ter)" "" "0000276749" "00000747" "10" "1961" "0" "1961" "0" "c.1961T>C" "r.(?)" "p.(Val654Ala)" "" "0000276750" "00000747" "10" "2097" "-10" "2097" "-10" "c.2097-10C>G" "r.(=)" "p.(=)" "" "0000276751" "00000747" "10" "2377" "-19" "2377" "-19" "c.2377-19T>C" "r.(=)" "p.(=)" "" "0000276753" "00000747" "10" "2559" "0" "2559" "0" "c.2559G>A" "r.(?)" "p.(Ser853=)" "" "0000276754" "00000747" "10" "27" "0" "27" "0" "c.27C>T" "r.(?)" "p.(Ile9=)" "" "0000276755" "00000747" "10" "446" "9" "446" "9" "c.446+9G>A" "r.(=)" "p.(=)" "" "0000276757" "00000747" "10" "447" "-16" "447" "-16" "c.447-16G>T" "r.(=)" "p.(=)" "" "0000276758" "00000747" "10" "647" "-18" "647" "-18" "c.647-18C>A" "r.(=)" "p.(=)" "" "0000276759" "00000747" "10" "66" "10" "66" "10" "c.66+10C>T" "r.(=)" "p.(=)" "" "0000276760" "00000747" "10" "67" "-7" "67" "-7" "c.67-7T>C" "r.(=)" "p.(=)" "" "0000276762" "00000747" "50" "759" "0" "759" "0" "c.759del" "r.(?)" "p.(Phe254SerfsTer8)" "" "0000280801" "00000747" "30" "1863" "0" "1863" "0" "c.1863C>A" "r.(?)" "p.(Thr621=)" "" "0000280802" "00000747" "10" "1961" "0" "1961" "0" "c.1961T>C" "r.(?)" "p.(Val654Ala)" "" "0000280803" "00000747" "10" "2559" "0" "2559" "0" "c.2559G>A" "r.(?)" "p.(Ser853=)" "" "0000280804" "00000747" "10" "447" "-3" "447" "-3" "c.447-3dup" "r.spl?" "p.?" "" "0000280805" "00000747" "10" "647" "-18" "647" "-18" "c.647-18C>A" "r.(=)" "p.(=)" "" "0000283210" "00000747" "10" "1961" "0" "1961" "0" "c.1961T>C" "r.(?)" "p.(Val654Ala)" "" "0000283211" "00000747" "10" "2377" "-19" "2377" "-19" "c.2377-19T>C" "r.(=)" "p.(=)" "" "0000283213" "00000747" "10" "2559" "0" "2559" "0" "c.2559G>A" "r.(?)" "p.(Ser853=)" "" "0000283214" "00000747" "10" "27" "0" "27" "0" "c.27C>T" "r.(?)" "p.(Ile9=)" "" "0000283216" "00000747" "30" "447" "-16" "447" "-16" "c.447-16G>T" "r.(=)" "p.(=)" "" "0000283217" "00000747" "10" "647" "-18" "647" "-18" "c.647-18C>A" "r.(=)" "p.(=)" "" "0000283218" "00000747" "10" "67" "-7" "67" "-7" "c.67-7T>C" "r.(=)" "p.(=)" "" "0000283949" "00000747" "10" "1961" "0" "1961" "0" "c.1961T>C" "r.(?)" "p.(Val654Ala)" "" "0000283950" "00000747" "10" "2097" "-10" "2097" "-10" "c.2097-10C>G" "r.(=)" "p.(=)" "" "0000283951" "00000747" "30" "2376" "124" "2376" "124" "c.2376+124G>A" "r.(=)" "p.(=)" "" "0000283952" "00000747" "10" "2377" "-19" "2377" "-19" "c.2377-19T>C" "r.(=)" "p.(=)" "" "0000283953" "00000747" "30" "2377" "-70" "2377" "-70" "c.2377-70G>T" "r.(=)" "p.(=)" "" "0000283954" "00000747" "30" "2377" "-71" "2377" "-71" "c.2377-71T>G" "r.(=)" "p.(=)" "" "0000283955" "00000747" "30" "2459" "90" "2459" "91" "c.2459+90_2459+91del" "r.(=)" "p.(=)" "" "0000283957" "00000747" "30" "2459" "91" "2459" "91" "c.2459+91del" "r.(=)" "p.(=)" "" "0000283959" "00000747" "10" "2559" "0" "2559" "0" "c.2559G>A" "r.(?)" "p.(Ser853=)" "" "0000283960" "00000747" "30" "446" "9" "446" "9" "c.446+9G>A" "r.(=)" "p.(=)" "" "0000283961" "00000747" "30" "447" "-3" "447" "-3" "c.447-3del" "r.spl?" "p.?" "" "0000283963" "00000747" "10" "647" "-18" "647" "-18" "c.647-18C>A" "r.(=)" "p.(=)" "" "0000283964" "00000747" "10" "66" "10" "66" "10" "c.66+10C>T" "r.(=)" "p.(=)" "" "0000283965" "00000747" "10" "67" "-7" "67" "-7" "c.67-7T>C" "r.(=)" "p.(=)" "" "0000287516" "00000747" "30" "102" "0" "102" "0" "c.102G>A" "r.(?)" "p.(Thr34=)" "" "0000287517" "00000747" "50" "112" "0" "112" "0" "c.112G>A" "r.(?)" "p.(Val38Ile)" "" "0000287518" "00000747" "50" "1207" "0" "1207" "0" "c.1207C>A" "r.(?)" "p.(Gln403Lys)" "" "0000287519" "00000747" "10" "1961" "0" "1961" "0" "c.1961T>C" "r.(?)" "p.(Val654Ala)" "" "0000287520" "00000747" "10" "2377" "-19" "2377" "-19" "c.2377-19T>C" "r.(=)" "p.(=)" "" "0000287522" "00000747" "50" "2547" "-5" "2547" "-5" "c.2547-5T>G" "r.spl?" "p.?" "" "0000287523" "00000747" "10" "2559" "0" "2559" "0" "c.2559G>A" "r.(?)" "p.(Ser853=)" "" "0000287524" "00000747" "30" "33" "0" "33" "0" "c.33G>C" "r.(?)" "p.(Ser11=)" "" "0000287525" "00000747" "10" "647" "-18" "647" "-18" "c.647-18C>A" "r.(=)" "p.(=)" "" "0000287526" "00000747" "30" "66" "10" "66" "10" "c.66+10C>T" "r.(=)" "p.(=)" "" "0000287527" "00000747" "10" "67" "-7" "67" "-7" "c.67-7T>C" "r.(=)" "p.(=)" "" "0000331166" "00000747" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "2" "0000351529" "00000747" "90" "1043" "0" "1050" "0" "c.1043_1050del" "r.(?)" "p.(Asp348Glyfs*12)" "8" "0000351530" "00000747" "90" "1141" "0" "1141" "0" "c.1141C>T" "r.(?)" "p.(Arg381*)" "9" "0000351531" "00000747" "90" "1147" "0" "1148" "0" "c.1147_1148delinsT" "r.(?)" "p.(Lys383*)" "9" "0000351532" "00000747" "90" "1162" "0" "1162" "0" "c.1162A>G" "r.(?)" "p.(Arg388Gly)" "9" "0000351533" "00000747" "90" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Gln403*)" "10" "0000351534" "00000747" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "2" "0000351535" "00000747" "90" "1231" "0" "1231" "0" "c.1231A>G" "r.(?)" "p.(Ile411Val)" "10" "0000351536" "00000747" "90" "1373" "0" "1373" "0" "c.1373dup" "r.(?)" "p.(Leu458Phefs*5)" "11" "0000351537" "00000747" "90" "143" "0" "143" "0" "c.143A>G" "r.(?)" "p.(Asp48Gly)" "2" "0000351538" "00000747" "90" "157" "0" "157" "0" "c.157G>T" "r.(?)" "p.(Asp53Tyr)" "2" "0000351539" "00000747" "90" "1666" "0" "1666" "0" "c.1666dup" "r.(?)" "p.(Thr556Asnfs*21)" "14" "0000351540" "00000747" "90" "1675" "0" "1675" "0" "c.1675A>T" "r.(?)" "p.(Lys559*)" "14" "0000351541" "00000747" "90" "1940" "0" "1940" "0" "c.1940A>G" "r.(?)" "p.(Tyr647Cys)" "16" "0000351542" "00000747" "90" "1986" "0" "1986" "0" "c.1986dup" "r.(?)" "p.(Lys663Glufs*6)" "16" "0000351543" "00000747" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Gln823*)" "17" "0000351544" "00000747" "90" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899*)" "17" "0000351545" "00000747" "90" "2705" "0" "2705" "0" "c.2705T>C" "r.(?)" "p.(Ile902Thr)" "17" "0000351546" "00000747" "90" "294" "0" "294" "0" "c.294del" "r.(?)" "p.(Phe98Leufs*5)" "4" "0000351547" "00000747" "90" "50" "0" "50" "0" "c.50T>C" "r.(?)" "p.(Leu17Pro)" "1" "0000351548" "00000747" "90" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Arg183*)" "4" "0000351549" "00000747" "90" "759" "0" "759" "0" "c.759del" "r.(?)" "p.(Phe254Serfs*8)" "6" "0000351550" "00000747" "90" "831" "0" "838" "0" "c.831_838del" "r.(?)" "p.(Lys278Trpfs*6)" "6" "0000351551" "00000747" "90" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Glu302Lys)" "7" "0000368953" "00000747" "90" "2157" "0" "2158" "0" "c.2157_2158insA" "r.(?)" "p.(Glu720Argfs*13)" "" "0000406005" "00000747" "70" "1808" "0" "1811" "0" "c.1808_1811dup" "r.(?)" "p.(Pro605Glufs*45)" "" "0000455019" "00000747" "90" "1141" "0" "1141" "0" "c.1141C>T" "r.(?)" "p.(Arg381*)" "" "0000455020" "00000747" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "" "0000455021" "00000747" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "" "0000455022" "00000747" "70" "863" "0" "863" "0" "c.863G>T" "r.(?)" "p.(Gly288Val)" "" "0000526648" "00000747" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "" "0000526649" "00000747" "30" "446" "9" "446" "9" "c.446+9G>A" "r.(=)" "p.(=)" "" "0000526650" "00000747" "30" "447" "-17" "447" "-17" "c.447-17dup" "r.(=)" "p.(=)" "" "0000526651" "00000747" "10" "447" "-17" "447" "-17" "c.447-17dup" "r.(=)" "p.(=)" "" "0000526652" "00000747" "10" "447" "-4" "447" "-3" "c.447-4_447-3dup" "r.spl?" "p.?" "" "0000526653" "00000747" "30" "447" "-4" "447" "-3" "c.447-4_447-3dup" "r.spl?" "p.?" "" "0000526654" "00000747" "10" "447" "-3" "447" "-3" "c.447-3dup" "r.spl?" "p.?" "" "0000526655" "00000747" "10" "447" "-3" "447" "-3" "c.447-3dup" "r.spl?" "p.?" "" "0000526656" "00000747" "10" "447" "-3" "447" "-3" "c.447-3dup" "r.spl?" "p.?" "" "0000526658" "00000747" "30" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Arg183Gln)" "" "0000526660" "00000747" "30" "834" "0" "834" "0" "c.834A>T" "r.(?)" "p.(Lys278Asn)" "" "0000526661" "00000747" "50" "919" "0" "919" "0" "c.919G>A" "r.(?)" "p.(Asp307Asn)" "" "0000526663" "00000747" "30" "1434" "9" "1434" "9" "c.1434+9A>G" "r.(=)" "p.(=)" "" "0000526664" "00000747" "50" "1507" "0" "1507" "0" "c.1507T>C" "r.(?)" "p.(Cys503Arg)" "" "0000526665" "00000747" "50" "1571" "0" "1571" "0" "c.1571C>G" "r.(?)" "p.(Thr524Arg)" "" "0000526666" "00000747" "70" "1949" "-10" "1949" "-10" "c.1949-10T>G" "r.(=)" "p.(=)" "" "0000526668" "00000747" "30" "2097" "-10" "2097" "-10" "c.2097-10C>G" "r.(=)" "p.(=)" "" "0000526669" "00000747" "10" "2377" "-20" "2377" "-19" "c.2377-20_2377-19insC" "r.(=)" "p.(=)" "" "0000526670" "00000747" "10" "2377" "-20" "2377" "-19" "c.2377-20_2377-19insC" "r.(=)" "p.(=)" "" "0000526671" "00000747" "10" "2377" "-20" "2377" "-19" "c.2377-20_2377-19insC" "r.(=)" "p.(=)" "" "0000526672" "00000747" "10" "2377" "-10" "2377" "-10" "c.2377-10del" "r.(=)" "p.(=)" "" "0000526673" "00000747" "10" "2377" "-10" "2377" "-10" "c.2377-10del" "r.(=)" "p.(=)" "" "0000526674" "00000747" "30" "2459" "7" "2459" "7" "c.2459+7T>G" "r.(=)" "p.(=)" "" "0000526675" "00000747" "30" "2547" "-5" "2547" "-5" "c.2547-5T>G" "r.spl?" "p.?" "" "0000526676" "00000747" "30" "2599" "0" "2599" "0" "c.2599A>G" "r.(?)" "p.(Arg867Gly)" "" "0000526677" "00000747" "10" "2844" "0" "2844" "0" "c.*120C>T" "r.(=)" "p.(=)" "" "0000609903" "00000747" "30" "1040" "-4" "1040" "-4" "c.1040-4T>C" "r.spl?" "p.?" "" "0000609904" "00000747" "50" "1376" "0" "1376" "0" "c.1376G>A" "r.(?)" "p.(Arg459Gln)" "" "0000621614" "00000747" "30" "42" "0" "42" "0" "c.42G>A" "r.(?)" "p.(Lys14=)" "" "0000651811" "00000747" "30" "173" "0" "173" "0" "c.173A>G" "r.(?)" "p.(Tyr58Cys)" "" "0000655450" "00000747" "50" "173" "0" "173" "0" "c.173A>G" "r.(?)" "p.(Tyr58Cys)" "" "0000655451" "00000747" "90" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Gln198Ter)" "" "0000655452" "00000747" "30" "1584" "-8" "1584" "-8" "c.1584-8T>A" "r.(=)" "p.(=)" "" "0000655453" "00000747" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Gln823Ter)" "" "0000660266" "00000747" "90" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Arg183*)" "" "0000663999" "00000747" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "" "0000664000" "00000747" "90" "831" "0" "838" "0" "c.831_838del" "r.(?)" "p.(Lys278Trpfs*6)" "" "0000664057" "00000747" "70" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Gly94Asp)" "" "0000664058" "00000747" "70" "2065" "0" "2065" "0" "c.2065dup" "r.(?)" "p.(Thr689Asnfs*12)" "" "0000664141" "00000747" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "" "0000664150" "00000747" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "" "0000664160" "00000747" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "" "0000677589" "00000747" "10" "2731" "0" "2731" "0" "c.*7C>T" "r.(=)" "p.(=)" "" "0000689601" "00000747" "10" "447" "-3" "447" "-3" "c.447-3dup" "r.spl?" "p.?" "" "0000708795" "00000747" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Gln823*)" "22" "0000720623" "00000747" "30" "834" "0" "834" "0" "c.834A>T" "r.(?)" "p.(Lys278Asn)" "" "0000720624" "00000747" "50" "1388" "8" "1388" "8" "c.1388+8T>A" "r.(=)" "p.(=)" "" "0000720625" "00000747" "50" "2295" "0" "2295" "0" "c.2295T>A" "r.(?)" "p.(Asp765Glu)" "" "0000720626" "00000747" "50" "2519" "0" "2520" "0" "c.2519_2520del" "r.(?)" "p.(Ser840*)" "" "0000802256" "00000747" "30" "1271" "5" "1271" "5" "c.1271+5A>G" "r.spl?" "p.?" "" "0000802257" "00000747" "30" "2154" "0" "2154" "0" "c.2154A>G" "r.(?)" "p.(Pro718=)" "" "0000802258" "00000747" "30" "2377" "-11" "2377" "-10" "c.2377-11_2377-10del" "r.(=)" "p.(=)" "" "0000814314" "00000747" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "" "0000814315" "00000747" "70" "446" "2" "446" "2" "c.446+2T>C" "r.spl?" "p.?" "" "0000851032" "00000747" "30" "1386" "0" "1386" "0" "c.1386A>G" "r.(?)" "p.(Glu462=)" "" "0000851033" "00000747" "50" "2360" "0" "2360" "0" "c.2360G>A" "r.(?)" "p.(Ser787Asn)" "" "0000851034" "00000747" "50" "2365" "0" "2365" "0" "c.2365A>G" "r.(?)" "p.(Lys789Glu)" "" "0000860066" "00000747" "10" "27" "0" "27" "0" "c.27C>T" "r.(?)" "p.(Ile9=)" "" "0000860067" "00000747" "10" "446" "32" "446" "32" "c.446+32dup" "r.(=)" "p.(=)" "" "0000860068" "00000747" "10" "1949" "-308" "1949" "-308" "c.1949-308G>A" "r.(=)" "p.(=)" "" "0000860069" "00000747" "10" "2097" "-243" "2097" "-243" "c.2097-243A>C" "r.(=)" "p.(=)" "" "0000860070" "00000747" "50" "2116" "0" "2116" "0" "c.2116G>A" "r.(?)" "p.(Val706Ile)" "" "0000860071" "00000747" "10" "2180" "63" "2180" "63" "c.2180+63G>T" "r.(=)" "p.(=)" "" "0000860072" "00000747" "10" "2459" "90" "2459" "91" "c.2459+90_2459+91del" "r.(=)" "p.(=)" "" "0000860073" "00000747" "10" "2459" "91" "2459" "91" "c.2459+91del" "r.(=)" "p.(=)" "" "0000860074" "00000747" "90" "2519" "0" "2520" "0" "c.2519_2520del" "r.(?)" "p.(Ser840*)" "" "0000886982" "00000747" "30" "2459" "7" "2459" "7" "c.2459+7T>G" "r.(=)" "p.(=)" "" "0000912378" "00000747" "10" "1242" "0" "1242" "0" "c.1242T>C" "r.(?)" "p.(Ile414=)" "" "0000912379" "00000747" "10" "2753" "0" "2753" "0" "c.*29G>A" "r.(=)" "p.(=)" "" "0000924404" "00000747" "30" "658" "0" "658" "0" "c.658A>G" "r.(?)" "p.(Ile220Val)" "" "0000929129" "00000747" "30" "627" "0" "627" "0" "c.627A>G" "r.(?)" "p.(=)" "" "0000933191" "00000747" "70" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265*)" "2" "0000933246" "00000747" "70" "447" "-2" "447" "-2" "c.447-2A>C" "r.spl" "p.?" "" "0000933247" "00000747" "70" "498" "-1" "498" "-1" "c.498-1G>A" "r.spl" "p.?" "" "0000944297" "00000747" "70" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "2" "0000948611" "00000747" "30" "300" "0" "300" "0" "c.300G>A" "r.(?)" "p.(=)" "" "0000963775" "00000747" "50" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Gly469Arg)" "" "0000963776" "00000747" "50" "1750" "1" "1750" "1" "c.1750+1del" "r.(?)" "p.(Asp584Metfs*39)" "" "0000972055" "00000747" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "2" "0000972057" "00000747" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "2" "0000972058" "00000747" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "2" "0000972059" "00000747" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "2" "0000972060" "00000747" "70" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265*)" "2" "0000976922" "00000747" "70" "317" "0" "321" "0" "c.317_321del" "r.(?)" "p.(Tyr106Cysfs*5)" "" "0000976923" "00000747" "30" "447" "-3" "447" "-3" "c.447-3del" "r.spl?" "p.?" "" "0000976924" "00000747" "90" "1373" "0" "1373" "0" "c.1373dup" "r.(?)" "p.(Leu458Phefs*5)" "" "0000976925" "00000747" "50" "1871" "0" "1871" "0" "c.1871T>C" "r.(?)" "p.(Leu624Pro)" "" "0000976926" "00000747" "50" "1879" "0" "1879" "0" "c.1879A>G" "r.(?)" "p.(Thr627Ala)" "" "0000976927" "00000747" "50" "2096" "0" "2096" "0" "c.2096G>A" "r.(?)" "p.(Arg699His)" "" "0000976928" "00000747" "50" "2260" "0" "2260" "0" "c.2260G>C" "r.(?)" "p.(Val754Leu)" "" "0000995244" "00000747" "30" "252" "0" "252" "0" "c.252G>A" "r.(?)" "p.(=)" "" "0000995245" "00000747" "50" "1506" "0" "1506" "0" "c.1506dup" "r.(?)" "p.(Cys503Metfs*14)" "" "0000995246" "00000747" "50" "2713" "0" "2713" "0" "c.2713C>T" "r.(?)" "p.(Arg905Cys)" "" "0001014158" "00000747" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "" "0001035403" "00000747" "70" "759" "0" "759" "0" "c.759del" "r.(?)" "p.(Phe254SerfsTer8)" "" "0001035404" "00000747" "30" "1386" "0" "1386" "0" "c.1386A>G" "r.(?)" "p.(Glu462=)" "" "0001035405" "00000747" "50" "1490" "0" "1490" "0" "c.1490A>T" "r.(?)" "p.(Gln497Leu)" "" "0001035406" "00000747" "50" "1949" "-10" "1949" "-10" "c.1949-10T>G" "r.(=)" "p.(=)" "" "0001046044" "00000747" "30" "1863" "0" "1863" "0" "c.1863C>A" "r.(?)" "p.(Thr621=)" "" "0001052456" "00000747" "30" "645" "0" "645" "0" "c.645C>T" "r.(?)" "p.(=)" "" "0001052457" "00000747" "50" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244Cys)" "" "0001052458" "00000747" "50" "896" "0" "896" "0" "c.896T>C" "r.(?)" "p.(Val299Ala)" "" "0001052459" "00000747" "50" "1728" "0" "1728" "0" "c.1728A>G" "r.(?)" "p.(=)" "" "0001052460" "00000747" "50" "2147" "0" "2147" "0" "c.2147G>A" "r.(?)" "p.(Arg716His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 63 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004404" "0000035897" "0000063022" "0000035898" "0000063023" "0000035899" "0000063024" "0000035900" "0000063025" "0000035901" "0000063026" "0000035902" "0000063027" "0000035903" "0000063028" "0000035904" "0000063029" "0000035905" "0000063030" "0000081403" "0000130532" "0000100662" "0000162970" "0000147974" "0000241255" "0000147974" "0000368953" "0000152694" "0000351529" "0000152695" "0000351530" "0000152696" "0000351531" "0000152697" "0000351532" "0000152698" "0000351533" "0000152699" "0000351534" "0000152700" "0000351535" "0000152701" "0000351536" "0000152702" "0000351537" "0000152703" "0000351538" "0000152704" "0000351539" "0000152705" "0000351540" "0000152706" "0000351541" "0000152707" "0000351542" "0000152708" "0000351543" "0000152709" "0000351544" "0000152710" "0000351545" "0000152711" "0000351546" "0000152712" "0000351547" "0000152713" "0000351548" "0000152714" "0000351549" "0000152715" "0000351550" "0000152716" "0000351551" "0000177906" "0000406005" "0000220125" "0000455019" "0000220125" "0000455020" "0000220126" "0000455021" "0000220126" "0000455022" "0000295122" "0000651811" "0000297659" "0000660266" "0000301104" "0000663999" "0000301105" "0000664000" "0000301162" "0000664057" "0000301163" "0000664058" "0000301246" "0000664141" "0000301255" "0000664150" "0000301265" "0000664160" "0000325659" "0000708795" "0000386659" "0000814314" "0000386659" "0000814315" "0000437775" "0000933191" "0000437775" "0000972057" "0000437828" "0000933246" "0000437828" "0000972058" "0000437829" "0000933247" "0000437829" "0000972055" "0000442624" "0000944297" "0000450112" "0000972059" "0000450112" "0000972060"