### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UNC80) # 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}}" "UNC80" "unc-80 homolog (C. elegans)" "2" "q35" "unknown" "NC_000002.11" "UD_134711296248" "" "http://www.LOVD.nl/UNC80" "" "1" "26582" "285175" "612636" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/UNC80_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-26 09:51:26" "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}}" "00024138" "UNC80" "transcript variant 1" "001" "NM_032504.1" "" "NP_115893.1" "" "" "" "-80" "13482" "9777" "210636717" "210864024" "00006" "2016-05-26 09:45:43" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00844" "MPPH1" "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, type 1 (MPPH-1)" "AD" "603387" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05170" "IE" "encephalopathy, infantile (IE)" "" "" "" "" "" "00006" "2016-05-26 16:15:47" "" "" "05182" "IHPRF2" "hypotonia, infantile, with psychomotor retardation and characteristic facies, type 2 (IHPRF-2)" "AR" "616801" "" "" "" "00006" "2016-09-13 16:07:19" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "UNC80" "05182" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00056046" "" "" "" "3" "" "00006" "{PMID:Riviere 2012:22729224}, {DOI:Riviere 2012:10.1038/ng.2331}" "2-generation family, 3 affected sibs (2F, M), unaffected non-carrier parents/sister; suspected germline mosaicism parent since 3 affected sibs share germline variant not detected in either parent (2 tissues)" "M" "no" "" ">16y" "0" "" "" "European" "" "00065256" "" "" "" "1" "" "01606" "{PMID:Shamseldin HE 2016:26708753}, {DOI:Shamseldin HE 2016:10.1016/j.ajhg.2015.11.013}" "" "M" "yes" "Saudi Arabia" ">06y06m" "0" "" "" "" "26708753 F1_IV:5" "00065257" "" "" "" "1" "" "01606" "{PMID:Shamseldin HE 2016:26708753}, {DOI:Shamseldin HE 2016:10.1016/j.ajhg.2015.11.013}" "" "M" "yes" "Saudi Arabia" ">02y" "0" "" "" "" "26708753 F2_IV:1" "00065258" "" "" "" "1" "" "01606" "{PMID:Shamseldin HE 2016:26708753}, {DOI:Shamseldin HE 2016:10.1016/j.ajhg.2015.11.013}" "" "M" "yes" "Saudi Arabia" ">01y" "0" "" "" "" "26708753 F2_IV:2" "00065259" "" "" "" "1" "" "01606" "{PMID:Shamseldin HE 2016:26708753}, {DOI:Shamseldin HE 2016:10.1016/j.ajhg.2015.11.013}" "" "F" "yes" "Saudi Arabia" ">07y" "0" "" "" "" "26708753 F3_IV:4" "00065260" "" "" "" "1" "" "01606" "{PMID:Shamseldin HE 2016:26708753}, {DOI:Shamseldin HE 2016:10.1016/j.ajhg.2015.11.013}" "" "F" "yes" "Egypt" ">08y" "0" "" "" "" "26708753 F4_V:1" "00065262" "" "" "" "1" "" "01606" "{PMID:Shamseldin HE 2016:26708753}, {DOI:Shamseldin HE 2016:10.1016/j.ajhg.2015.11.013}" "" "F" "yes" "Egypt" ">04y" "0" "" "" "" "26708753 F4_V:2" "00065264" "" "" "" "1" "" "01606" "{PMID:Stray-Pedersen A 2016:26708751}, {DOI:Stray-Pedersen A 2016:10.1016/j.ajhg.2015.11.004}" "" "F" "yes" "Iraq" ">04y" "0" "" "clonazepam" "" "26708751 F1_IV.1" "00065267" "" "" "" "1" "" "01606" "{PMID:Stray-Pedersen A 2016:26708751}, {DOI:Stray-Pedersen A 2016:10.1016/j.ajhg.2015.11.004}" "" "F" "yes" "Morocco" ">04y" "0" "" "valproate, rivotril" "" "26708751 F2_V.5" "00065268" "" "" "" "1" "" "01606" "{PMID:Stray-Pedersen A 2016:26708751}, {DOI:Stray-Pedersen A 2016:10.1016/j.ajhg.2015.11.004}" "" "F" "no" "Norway" ">15y" "0" "" "valproate, lamotrigine, levetiracetam, vagal nerve stimulator" "" "26708751 F3_II.1" "00065269" "" "" "" "1" "" "01606" "{PMID:Stray-Pedersen A 2016:26708751}, {DOI:Stray-Pedersen A 2016:10.1016/j.ajhg.2015.11.004}" "" "F" "no" "Norway" ">10y" "0" "" "valproate" "" "26708751 F3_II.2" "00081054" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00101392" "" "" "" "1" "" "01864" "" "" "F" "no" "China" ">02y11m" "0" "" "" "" "P5" "00101393" "" "" "" "1" "" "01864" "" "" "M" "no" "China" ">09y" "0" "" "" "" "P6" "00288193" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat3" "00292556" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00361579" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "15DG1948" "00361590" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "15DG0797" "00361598" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "15DG1972" "00374533" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-6581" "00380804" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" "00464364" "" "" "" "2" "" "04169" "" "" "-" "no" "Italy" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00056046" "00844" "00065256" "05170" "00065257" "05170" "00065258" "05170" "00065259" "05170" "00065260" "05170" "00065262" "05170" "00065264" "00139" "00065264" "05162" "00065267" "00139" "00065267" "05162" "00065268" "00139" "00065268" "05162" "00065269" "00139" "00065269" "05162" "00081054" "05182" "00101392" "00139" "00101393" "00139" "00288193" "00198" "00292556" "00198" "00361579" "00139" "00361590" "00139" "00361598" "00139" "00374533" "00198" "00380804" "05182" "00464364" "05182" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00844, 05162, 05170, 05182 ## Count = 22 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000042702" "00844" "00056046" "00006" "Familial" "16y" "mild developmental delay particularly involving speech, later diagnosed with Asperger syndrome; 18m-third ventriculostomy for progressive ventriculomegaly (HP:0002119), no seizures; 12.5y MRI-brain striking megalencephaly (HP:0001355), bilateral perisylvian polymicrogyria (HP:0002126), borderline cerebellar tonsillar ectopia, moderately thick corpus callosum, no vascular malformations, no digital anomalies (no polydactyly (-HP:0010442), no syndactyly (-HP:0001159))" "" "" "ventriculomegaly (HP:0002119)" "" "" "" "" "" "" "" "" "0000051372" "00139" "00065264" "01606" "Familial, autosomal recessive" "04y" "Muscular hypotonia (HP:0001252), Feeding difficulties (HP:0011968), Hypotonic facies (HP:0001999), Small hands (HP:0200055), Short foot (HP:0001773), Poor eye contact (HP:0000817), minimal interest in surroundings (HP:0000723), Generalized tonic-clonic seizures (HP:0002069), severe constipation (HP:0002019), no tactile aversion, Hypersensitivity for stimuli, Obstructive sleep apnea (HP:0002870), Hypoplasia of the corpus callosum (HP:0002079), non-specific myopathic changes on muscle biopsy (HP:0003198),; birth 41w, Birth weight (percentile) 3,000 g (25th), OFC at birth (percentile) 33 cm (25th),; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" "0000051373" "00139" "00065267" "01606" "Familial, autosomal recessive" "04y" "Muscular hypotonia (HP:0001252), Feeding difficulties (HP:0011968), Hypotonic facies (HP:0001999), no small hands (-HP:0200055), no short foot (-HP:0001773), non-ambulatory (HP:0002540), Generalized tonic-clonic seizures (HP:0002069), severe constipation (HP:0002019), no tactile aversion, Hypersensitivity for stimuli, Sleep disturbance (HP:0002360),; birth 41w, Birth weight (percentile) 3,158 g (50th); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" "0000051374" "00139" "00065268" "01606" "Familial, autosomal recessive" "15y" "Muscular hypotonia (HP:0001252), no feeding difficulties (-HP:0011968), esotropia (HP:0000565), Hypotonic facies (HP:0001999), Small hands (HP:0200055), Short foot (HP:0001773), sociable, content,interested in surroundings, Generalized myoclonic seizures (HP:0002123), Atonic seizures (HP:0010819), Generalized tonic-clonic seizures (HP:0002069), atypical absences (HP:0011150), severe constipation (HP:0002019), tactile aversion, Hypersensitivity for stimuli, no sleep disturbance (HP:0002360), mild scoliosis (HP:0002650),; birth 38w, Birth weight (percentile) 2,960 g (25th), OFC at birth (percentile) 32 cm (10th),; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" "0000051375" "00139" "00065269" "01606" "Familial, autosomal recessive" "09y" "Muscular hypotonia (HP:0001252), Feeding difficulties (HP:0011968), Hypotonic facies (HP:0001999), Small hands (HP:0200055), Short foot (HP:0001773), sociable, content, interested in surroundings, Atonic seizures (HP:0010819), atypical absences (HP:0011150), severe constipation (HP:0002019), tactile aversion, Hypersensitivity for stimuli, no sleep disturbance (-HP:0002360),; birth 40w, Birth weight (percentile) 3,070 g (25th), OFC at birth (percentile) 35 cm (75th),; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" "0000051396" "05170" "00065262" "01606" "Familial, autosomal recessive" "04y" "Autosomal-Recessive Severe Infantile Encephalopathy; borderline cachexia (HP:0004326), progressive muscular hypotonia (HP:0001252), no microcephaly (-HP:0000252), no seizure (-HP:0001250), minor abnormality of the face (HP:0000271), Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000051397" "05170" "00065260" "01606" "Familial, autosomal recessive" "08y" "Autosomal-Recessive Severe Infantile Encephalopathy; borderline cachexia (HP:0004326), progressive muscular hypotonia (HP:0001252), no microcephaly (-HP:0000252), single seizure (HP:0001250), minor abnormality of the face (HP:0000271), Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000051398" "05170" "00065259" "01606" "Familial, autosomal recessive" "07y" "Autosomal-Recessive Severe Infantile Encephalopathy; Cachexia (HP:0004326), progressive muscular hypotonia (HP:0001252), Microcephaly (HP:0000252), no seizures (-HP:0001250), minor abnormality of the face (HP:0000271), Global developmental delay (HP:0001263)" "" "5.5m" "" "" "" "" "" "" "" "" "" "0000051399" "05170" "00065258" "01606" "Familial, autosomal recessive" "" "Autosomal-Recessive Severe Infantile Encephalopathy; Cachexia (HP:0004326), severe muscular hypotonia (HP:0001252), no microcephaly (-HP:0000252), no seizures (-HP:0001250), minor abnormality of the face (HP:0000271), Global developmental delay (HP:0001263)" "" "01y" "" "" "" "" "" "" "" "" "" "0000051400" "05170" "00065257" "01606" "Familial, autosomal recessive" "02y" "Autosomal-Recessive Severe Infantile Encephalopathy; cachexia (HP:0004326), severe muscular hypotonia (HP:0001252), Microcephaly (HP:0000252), no seizures (-HP:0001250), minor abnormality of the face (HP:0000271), Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000051401" "05170" "00065256" "01606" "Familial, autosomal recessive" "06y06m" "Autosomal-Recessive Severe Infantile Encephalopathy; cachexia (HP:0004326), severe muscular hypotonia (HP:0001252), microcephaly (HP:0000252), no seizures (-HP:0001250), minor abnormality of the face (HP:0000271), Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000060623" "05182" "00081054" "01758" "Familial, autosomal recessive" "" "Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (OMIM:616801)" "" "" "" "" "" "" "" "" "" "" "" "0000079596" "00139" "00101392" "01864" "Familial, autosomal recessive" "" "HP:0000252; HP:0001999; HP:0001290; global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000079599" "00139" "00101392" "01864" "Familial, autosomal recessive" "" "HP:0000252; HP:0001999; HP:0001290; full-term pregnancy, birth weight 3,100 g (-0.4 SD); global developmental delay (HP:0001263)" "" "05y" "" "" "" "" "" "" "" "" "" "0000080262" "00139" "00101393" "01864" "Familial, autosomal recessive" "" "HP:0000252, HP:0001999, HP:0001250, HP:0001290; full-term pregnancy, birth weight 3350g (50th), length birth 50cm (50th); intellectual disability (HP:0001249)" "" "09y06m" "" "" "" "" "" "" "" "" "" "0000221930" "00198" "00288193" "00006" "Familial, autosomal recessive" "2y" "developmental delay, hypotonia, apnea, myopathy, dysmorphic features" "" "" "" "" "" "" "" "" "" "" "" "0000256984" "00139" "00361579" "00006" "Familial, autosomal recessive" "2y" "not syndromic; global developmental delay" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000256995" "00139" "00361590" "00006" "Familial, autosomal recessive" "5y" "not syndromic; global developmental delay, brain atrophy, FTT" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000257003" "00139" "00361598" "00006" "Familial, autosomal recessive" "8y" "not syndromic; global developmental delay" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269743" "00198" "00374533" "00006" "Familial, autosomal recessive" "" "Muscle weakness, hypotonia, developmental delay, abnormal jerky movements, poor visual fixation, hyperekplexia and poor head control. MRI showed diffused cerebral atrophy and white matter hyperintensity" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000274657" "05182" "00380804" "00000" "Familial" "" "DD; ID; hypotonia, dysmorphic facial features; failure to thrive (Neurological)" "" "" "" "" "" "" "" "" "NALCN channelopathies" "" "" "0000350385" "05182" "00464364" "04169" "Familial, autosomal recessive" "" "Growth abnormality (HP:0001507); Dysphagia (HP:0002015); Delayed speech and language development (HP:0000750); Hypotonia (HP:0001252); Global developmental delay (HP:0001263); Seizure (HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000056001" "00056046" "1" "00006" "00006" "2015-12-08 12:21:40" "" "" "SEQ-NG" "DNA" "" "" "0000065407" "00065256" "1" "01606" "01606" "2016-05-24 14:22:25" "" "" "SEQ" "DNA" "" "" "0000065408" "00065257" "1" "01606" "01606" "2016-05-24 14:52:46" "" "" "SEQ" "DNA" "" "" "0000065409" "00065258" "1" "01606" "01606" "2016-05-24 14:59:25" "" "" "SEQ" "DNA" "" "" "0000065410" "00065259" "1" "01606" "01606" "2016-05-24 15:10:48" "" "" "SEQ" "DNA" "" "" "0000065411" "00065260" "1" "01606" "01606" "2016-05-24 15:21:17" "" "" "SEQ" "DNA" "" "" "0000065413" "00065262" "1" "01606" "01606" "2016-05-24 15:26:09" "" "" "SEQ" "DNA" "" "" "0000065417" "00065264" "1" "01606" "01606" "2016-05-25 09:30:41" "" "" "SEQ" "DNA" "" "" "0000065418" "00065267" "1" "01606" "01606" "2016-05-25 09:49:28" "" "" "SEQ" "DNA" "" "" "0000065419" "00065268" "1" "01606" "01606" "2016-05-25 10:15:25" "" "" "SEQ" "DNA" "" "" "0000065420" "00065269" "1" "01606" "01606" "2016-05-25 10:32:59" "" "" "SEQ" "DNA" "" "" "0000081166" "00081054" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000101839" "00101392" "1" "01864" "01864" "2017-03-29 08:44:30" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000102524" "00101393" "1" "01864" "01864" "2017-03-30 07:55:28" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000289362" "00288193" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood, fibroblast" "WES" "0000293724" "00292556" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000362807" "00361579" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000362818" "00361590" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000362826" "00361598" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000375727" "00374533" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000382018" "00380804" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" "0000465994" "00464364" "1" "04169" "04169" "2025-03-06 12:43:38" "" "" "arrayCNV" "DNA" "Blood" "" "0000465995" "00464364" "1" "04169" "04169" "2025-03-06 12:46:54" "" "" "SEQ-NG" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{geneid}}" "0000056001" "MUC4" "0000056001" "RREB1" "0000056001" "UNC80" "0000056001" "ZNF717" "0000065407" "UNC80" "0000065408" "UNC80" "0000065409" "UNC80" "0000065410" "UNC80" "0000065411" "UNC80" "0000065413" "UNC80" "0000065417" "UNC80" "0000065418" "UNC80" "0000065419" "UNC80" "0000065420" "UNC80" "0000081166" "UNC80" "0000101839" "UNC80" "0000102524" "UNC80" "0000289362" "UNC80" "0000362807" "UNC80" "0000362818" "UNC80" "0000362826" "UNC80" "0000375727" "UNC80" "0000465994" "UNC80" "0000465995" "UNC80" ## 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 = 109 "{{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}}" "0000086031" "1" "50" "2" "210678385" "210678385" "subst" "0.000803615" "00006" "UNC80_000001" "g.210678385G>T" "" "{PMID:Riviere 2012:22729224}, {DOI:Riviere 2012:10.1038/ng.2331}" "" "" "" "Germline" "no" "" "0" "" "" "g.209813661G>T" "" "VUS" "" "0000086032" "2" "50" "2" "210678386" "210678386" "subst" "0.000803689" "00006" "UNC80_000002" "g.210678386C>T" "" "{PMID:Riviere 2012:22729224}, {DOI:Riviere 2012:10.1038/ng.2331}" "" "" "" "Germline" "no" "" "0" "" "" "g.209813662C>T" "" "VUS" "" "0000097082" "3" "70" "2" "210737641" "210737641" "subst" "6.61279E-6" "01606" "UNC80_000006" "g.210737641C>T" "" "{PMID:Shamseldin HE 2016:26708753}, {DOI:Shamseldin HE 2016:10.1016/j.ajhg.2015.11.013}" "" "" "" "Germline" "" "" "0" "" "" "g.209872917C>T" "" "likely pathogenic" "" "0000097084" "3" "70" "2" "210737641" "210737641" "subst" "6.61279E-6" "01606" "UNC80_000006" "g.210737641C>T" "" "{PMID:Shamseldin 2016:26708753}, {DOI:Shamseldin 2016:10.1016/j.ajhg.2015.11.013}" "" "" "" "Germline" "" "" "0" "" "" "g.209872917C>T" "" "likely pathogenic" "" "0000097085" "3" "70" "2" "210737641" "210737641" "subst" "6.61279E-6" "01606" "UNC80_000006" "g.210737641C>T" "" "{PMID:Shamseldin 2016:26708753}, {DOI:Shamseldin 2016:10.1016/j.ajhg.2015.11.013}" "" "" "" "Germline" "" "" "0" "" "" "g.209872917C>T" "" "likely pathogenic" "" "0000097086" "3" "70" "2" "210678443" "210678443" "subst" "0" "01606" "UNC80_000004" "g.210678443C>T" "" "{PMID:Shamseldin HE 2016:26708753}, {DOI:Shamseldin HE 2016:10.1016/j.ajhg.2015.11.013}" "" "" "" "Germline" "" "" "0" "" "" "g.209813719C>T" "" "likely pathogenic" "" "0000097088" "3" "70" "2" "210642248" "210642248" "subst" "4.07963E-6" "01606" "UNC80_000003" "g.210642248G>A" "" "{PMID:Shamseldin HE 2016:26708753}, {DOI:Shamseldin HE 2016:10.1016/j.ajhg.2015.11.013}" "" "XM_005246476.1:c.565G>A" "" "Germline" "" "" "0" "" "" "g.209777524G>A" "" "likely pathogenic" "" "0000097089" "3" "70" "2" "210642248" "210642248" "subst" "4.07963E-6" "01606" "UNC80_000003" "g.210642248G>A" "" "{PMID:Shamseldin HE 2016:26708753}, {DOI:Shamseldin HE 2016:10.1016/j.ajhg.2015.11.013}" "" "XM_005246476.1:c.565G>A" "" "Germline" "" "" "0" "" "" "g.209777524G>A" "" "likely pathogenic" "" "0000097096" "3" "70" "2" "210783340" "210783340" "subst" "3.93877E-5" "01606" "UNC80_000007" "g.210783340C>T" "" "{PMID:Stray-Pedersen 2016:26708751}, {DOI:Stray-Pedersen 2016:10.1016/j.ajhg.2015.11.004}" "" "" "" "Germline" "" "" "0" "" "" "g.209918616C>T" "" "likely pathogenic" "" "0000097097" "3" "70" "2" "210824431" "210824431" "subst" "0" "01606" "UNC80_000008" "g.210824431G>C" "" "{PMID:Stray-Pedersen 2016:26708751}, {DOI:Stray-Pedersen 2016:10.1016/j.ajhg.2015.11.004}" "" "" "predicted to cause aberrant splicing" "Germline" "" "" "0" "" "" "g.209959707G>C" "" "likely pathogenic" "" "0000097098" "21" "70" "2" "210832310" "210832310" "subst" "0" "01606" "UNC80_000009" "g.210832310T>A" "" "{PMID:Stray-Pedersen 2016:26708751}, {DOI:Stray-Pedersen 2016:10.1016/j.ajhg.2015.11.004}" "" "" "" "Germline" "" "" "0" "" "" "g.209967586T>A" "" "likely pathogenic" "" "0000097099" "11" "70" "2" "210685105" "210685105" "del" "0" "01606" "UNC80_000005" "g.210685105del" "" "{PMID:Stray-Pedersen 2016:26708751}, {DOI:Stray-Pedersen 2016:10.1016/j.ajhg.2015.11.004}" "" "" "" "Germline" "" "" "0" "" "" "g.209820381del" "" "likely pathogenic" "" "0000097100" "11" "70" "2" "210685105" "210685105" "del" "0" "01606" "UNC80_000005" "g.210685105del" "" "{PMID:Stray-Pedersen 2016:26708751}, {DOI:Stray-Pedersen 2016:10.1016/j.ajhg.2015.11.004}" "" "" "" "Germline" "" "" "0" "" "" "g.209820381del" "" "likely pathogenic" "" "0000097101" "21" "70" "2" "210832310" "210832310" "subst" "0" "01606" "UNC80_000009" "g.210832310T>A" "" "{PMID:Stray-Pedersen 2016:26708751}, {DOI:Stray-Pedersen 2016:10.1016/j.ajhg.2015.11.004}" "" "" "" "Germline" "" "" "0" "" "" "g.209967586T>A" "" "likely pathogenic" "" "0000130252" "3" "90" "2" "210640622" "210640622" "subst" "0" "01758" "UNC80_000010" "g.210640622C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.209775898C>T" "" "pathogenic" "ACMG" "0000164581" "11" "70" "2" "210737567" "210737567" "subst" "0" "01864" "UNC80_000011" "g.210737567G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.209872843G>A" "" "likely pathogenic" "" "0000164582" "21" "70" "2" "210782595" "210782606" "del" "0" "01864" "UNC80_000012" "g.210782595_210782606del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.209917871_209917882del" "" "likely pathogenic" "" "0000165266" "11" "70" "2" "210782632" "210782632" "subst" "0" "01864" "UNC80_000014" "g.210782632C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.209917908C>T" "" "likely pathogenic" "" "0000165267" "21" "70" "2" "210837990" "210837990" "subst" "0" "01864" "UNC80_000013" "g.210837990C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.209973266C>G" "" "likely pathogenic" "" "0000250575" "0" "50" "2" "210704163" "210704163" "subst" "0.000428026" "02329" "UNC80_000018" "g.210704163A>G" "" "" "" "UNC80(NM_032504.2):c.3256+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209839439A>G" "" "VUS" "" "0000256051" "0" "50" "2" "210841688" "210841688" "subst" "0.00416209" "01943" "UNC80_000023" "g.210841688A>G" "" "" "" "UNC80(NM_032504.1):c.8626A>G (p.I2876V, p.(Ile2876Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209976964A>G" "" "VUS" "" "0000319308" "0" "30" "2" "210690681" "210690681" "subst" "0.000884967" "01943" "UNC80_000016" "g.210690681C>T" "" "" "" "UNC80(NM_032504.1):c.2382C>T (p.I794=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209825957C>T" "" "likely benign" "" "0000319309" "0" "50" "2" "210704073" "210704073" "subst" "8.54173E-5" "01943" "UNC80_000017" "g.210704073C>T" "" "" "" "UNC80(NM_032504.1):c.3169C>T (p.H1057Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209839349C>T" "" "VUS" "" "0000319310" "0" "50" "2" "210705365" "210705365" "subst" "0.000484794" "01943" "UNC80_000019" "g.210705365G>C" "" "" "" "UNC80(NM_032504.1):c.3356G>C (p.S1119T, p.(Ser1119Thr)), UNC80(NM_032504.2):c.3356G>C (p.S1119T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209840641G>C" "" "VUS" "" "0000319311" "0" "30" "2" "210822380" "210822380" "subst" "0.00262363" "01943" "UNC80_000021" "g.210822380C>T" "" "" "" "UNC80(NM_032504.1):c.7272C>T (p.A2424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209957656C>T" "" "likely benign" "" "0000319312" "0" "50" "2" "210837859" "210837859" "subst" "1.99736E-5" "01943" "UNC80_000022" "g.210837859C>T" "" "" "" "UNC80(NM_032504.1):c.8254C>T (p.R2752W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209973135C>T" "" "VUS" "" "0000328069" "0" "50" "2" "210680093" "210680093" "subst" "0.000317986" "01804" "UNC80_000015" "g.210680093T>C" "" "" "" "UNC80(NM_032504.1):c.1313T>C (p.(Leu438Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209815369T>C" "" "VUS" "" "0000328070" "0" "30" "2" "210742763" "210742763" "subst" "0.00540295" "01804" "UNC80_000020" "g.210742763C>T" "" "" "" "UNC80(NM_032504.1):c.3932C>T (p.(Thr1311Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209878039C>T" "" "likely benign" "" "0000341817" "0" "50" "2" "210737641" "210737641" "subst" "6.61279E-6" "02327" "UNC80_000006" "g.210737641C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209872917C>T" "" "VUS" "" "0000341881" "0" "90" "2" "210642092" "210642092" "subst" "0" "02327" "UNC80_000024" "g.210642092C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209777368C>T" "" "pathogenic" "" "0000342726" "0" "50" "2" "210678443" "210678443" "subst" "0" "02327" "UNC80_000004" "g.210678443C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209813719C>T" "" "VUS" "" "0000345339" "0" "50" "2" "210843430" "210843430" "subst" "0" "02327" "UNC80_000027" "g.210843430A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209978706A>T" "" "VUS" "" "0000349713" "0" "90" "2" "210783335" "210783335" "subst" "0" "02327" "UNC80_000025" "g.210783335G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209918611G>A" "" "pathogenic" "" "0000350455" "0" "50" "2" "210843282" "210843282" "subst" "0.00147133" "02327" "UNC80_000026" "g.210843282G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209978558G>A" "" "VUS" "" "0000514059" "0" "30" "2" "210636895" "210636895" "subst" "0.00379711" "01943" "UNC80_000028" "g.210636895G>A" "" "" "" "UNC80(NM_032504.1):c.92+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209772171G>A" "" "likely benign" "" "0000514061" "0" "30" "2" "210658502" "210658502" "subst" "0" "01804" "UNC80_000030" "g.210658502T>C" "" "" "" "UNC80(NM_032504.1):c.857T>C (p.(Ile286Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209793778T>C" "" "likely benign" "" "0000514062" "0" "90" "2" "210658516" "210658516" "subst" "0" "02325" "UNC80_000031" "g.210658516C>T" "" "" "" "UNC80(NM_032504.2):c.871C>T (p.R291*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209793792C>T" "" "pathogenic" "" "0000514065" "0" "30" "2" "210683829" "210683829" "subst" "0.00146474" "01943" "UNC80_000032" "g.210683829G>C" "" "" "" "UNC80(NM_032504.1):c.1806G>C (p.Q602H), UNC80(NM_032504.2):c.1806G>C (p.Q602H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209819105G>C" "" "likely benign" "" "0000514066" "0" "50" "2" "210683829" "210683829" "subst" "0.00146474" "02326" "UNC80_000032" "g.210683829G>C" "" "" "" "UNC80(NM_032504.1):c.1806G>C (p.Q602H), UNC80(NM_032504.2):c.1806G>C (p.Q602H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209819105G>C" "" "VUS" "" "0000514068" "0" "30" "2" "210705365" "210705365" "subst" "0.000484794" "01804" "UNC80_000019" "g.210705365G>C" "" "" "" "UNC80(NM_032504.1):c.3356G>C (p.S1119T, p.(Ser1119Thr)), UNC80(NM_032504.2):c.3356G>C (p.S1119T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209840641G>C" "" "likely benign" "" "0000514069" "0" "30" "2" "210761128" "210761128" "subst" "0.000799979" "01943" "UNC80_000034" "g.210761128G>A" "" "" "" "UNC80(NM_032504.1):c.4374G>A (p.S1458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209896404G>A" "" "likely benign" "" "0000514071" "0" "30" "2" "210805939" "210805939" "subst" "0" "01804" "UNC80_000036" "g.210805939T>C" "" "" "" "UNC80(NM_032504.1):c.6449-6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209941215T>C" "" "likely benign" "" "0000514073" "0" "50" "2" "210840844" "210840844" "subst" "0.000700963" "02329" "UNC80_000038" "g.210840844G>A" "" "" "" "UNC80(NM_032504.2):c.8391G>A (p.A2797=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209976120G>A" "" "VUS" "" "0000514074" "0" "30" "2" "210846963" "210846963" "subst" "0.00013224" "01804" "UNC80_000039" "g.210846963T>C" "" "" "" "UNC80(NM_032504.1):c.8981T>C (p.(Ile2994Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209982239T>C" "" "likely benign" "" "0000607405" "0" "50" "2" "210642083" "210642083" "subst" "4.87337E-5" "01943" "UNC80_000043" "g.210642083G>A" "" "" "" "UNC80(NM_032504.1):c.400G>A (p.G134S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209777359G>A" "" "VUS" "" "0000607407" "0" "50" "2" "210678385" "210678385" "subst" "0.000803615" "01943" "UNC80_000001" "g.210678385G>T" "" "" "" "UNC80(NM_032504.1):c.1020G>T (p.Q340H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209813661G>T" "" "VUS" "" "0000607408" "0" "50" "2" "210678386" "210678386" "subst" "0.000803689" "01943" "UNC80_000002" "g.210678386C>T" "" "" "" "UNC80(NM_032504.1):c.1021C>T (p.P341S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209813662C>T" "" "VUS" "" "0000607409" "0" "30" "2" "210690770" "210690770" "subst" "6.76535E-6" "01804" "UNC80_000045" "g.210690770G>A" "" "" "" "UNC80(NM_032504.1):c.2471G>A (p.(Arg824Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209826046G>A" "" "likely benign" "" "0000607410" "0" "50" "2" "210769547" "210769547" "subst" "0" "01943" "UNC80_000046" "g.210769547A>G" "" "" "" "UNC80(NM_032504.1):c.4442A>G (p.H1481R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209904823A>G" "" "VUS" "" "0000607411" "0" "30" "2" "210786379" "210786379" "subst" "7.34352E-5" "01943" "UNC80_000047" "g.210786379A>G" "" "" "" "UNC80(NM_032504.1):c.5301A>G (p.T1767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209921655A>G" "" "likely benign" "" "0000607412" "0" "30" "2" "210841688" "210841688" "subst" "0.00416209" "01804" "UNC80_000023" "g.210841688A>G" "" "" "" "UNC80(NM_032504.1):c.8626A>G (p.I2876V, p.(Ile2876Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209976964A>G" "" "likely benign" "" "0000620928" "0" "50" "2" "210837935" "210837935" "subst" "0.00121033" "01943" "UNC80_000048" "g.210837935C>T" "" "" "" "UNC80(NM_032504.1):c.8330C>T (p.A2777V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209973211C>T" "" "VUS" "" "0000620929" "0" "30" "2" "210860277" "210860277" "subst" "0.00315796" "01943" "UNC80_000049" "g.210860277G>A" "" "" "" "UNC80(NM_032504.1):c.9735G>A (p.E3245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209995553G>A" "" "likely benign" "" "0000645291" "3" "70" "2" "210841029" "210841029" "subst" "0" "00006" "UNC80_000050" "g.210841029T>G" "" "{PMID:Lee 2019:31607746}" "" "" "" "Germline" "" "" "0" "" "" "g.209976305T>G" "{CV:000622165.2}" "likely pathogenic (dominant)" "" "0000650413" "1" "30" "2" "210858145" "210858145" "subst" "0.00278957" "03575" "UNC80_000041" "g.210858145C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs61271372}" "Germline" "" "rs61271372" "0" "" "" "g.209993421C>T" "" "likely benign" "" "0000676453" "0" "50" "2" "210714187" "210714187" "subst" "0" "02327" "UNC80_000052" "g.210714187T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676454" "0" "30" "2" "210737690" "210737690" "subst" "6.63737E-6" "01804" "UNC80_000053" "g.210737690G>C" "" "" "" "UNC80(NM_032504.1):c.3842G>C (p.(Gly1281Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676455" "0" "50" "2" "210782507" "210782507" "subst" "6.58831E-6" "02327" "UNC80_000054" "g.210782507T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718402" "0" "30" "2" "210650785" "210650785" "subst" "8.98443E-5" "01943" "UNC80_000055" "g.210650785C>A" "" "" "" "UNC80(NM_032504.1):c.601-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718403" "0" "50" "2" "210682547" "210682547" "subst" "1.32435E-5" "01943" "UNC80_000056" "g.210682547C>T" "" "" "" "UNC80(NM_032504.1):c.1564C>T (p.R522W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718404" "0" "50" "2" "210685358" "210685366" "del" "0" "01943" "UNC80_000057" "g.210685358_210685366del" "" "" "" "UNC80(NM_032504.1):c.2286_2294delAGGTGGAGG (p.G764_G766del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718405" "0" "30" "2" "210696240" "210696240" "subst" "6.61743E-6" "01943" "UNC80_000058" "g.210696240C>T" "" "" "" "UNC80(NM_032504.1):c.2700C>T (p.I900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718406" "0" "30" "2" "210737694" "210737694" "subst" "1.3294E-5" "01943" "UNC80_000059" "g.210737694C>T" "" "" "" "UNC80(NM_032504.1):c.3846C>T (p.D1282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718407" "0" "90" "2" "210824431" "210824431" "subst" "0" "02329" "UNC80_000008" "g.210824431G>C" "" "" "" "UNC80(NM_032504.2):c.7607G>C (p.R2536T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718408" "0" "30" "2" "210837942" "210837942" "subst" "1.32958E-5" "01943" "UNC80_000060" "g.210837942A>G" "" "" "" "UNC80(NM_032504.1):c.8337A>G (p.K2779=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763181" "3" "90" "2" "210737641" "210737641" "subst" "6.61279E-6" "00006" "UNC80_000006" "g.210737641C>T" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PS4, PM2, PP1" "Germline" "" "" "0" "" "" "g.209872917C>T" "" "pathogenic" "ACMG" "0000763192" "3" "90" "2" "210737641" "210737641" "subst" "6.61279E-6" "00006" "UNC80_000006" "g.210737641C>T" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PS4, PM2, PP1" "Germline" "" "" "0" "" "" "g.209872917C>T" "" "pathogenic" "ACMG" "0000763200" "3" "70" "2" "210678443" "210678443" "subst" "0" "00006" "UNC80_000004" "g.210678443C>T" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.209813719C>T" "" "likely pathogenic" "ACMG" "0000787078" "3" "70" "2" "210837821" "210837833" "del" "0" "00006" "UNC80_000061" "g.210837821_210837833del" "" "{PMID:Ganapathy 2019:31069529}" "" "c.8215_8227del" "" "Germline" "" "" "0" "" "" "g.209973097_209973109del" "" "likely pathogenic" "" "0000795652" "3" "70" "2" "210832250" "210832250" "subst" "0" "00000" "UNC80_000062" "g.210832250A>C" "" "{PMID:Nair 2018:30293248}" "" "NM_032504.1:c.7697A>C; p.(Glu2566Ala)" "" "Unknown" "?" "" "0" "" "" "g.209967526A>C" "" "likely pathogenic" "" "0000800288" "0" "30" "2" "210682603" "210682603" "subst" "0.00361519" "01943" "UNC80_000063" "g.210682603C>G" "" "" "" "UNC80(NM_032504.1):c.1620C>G (p.S540=, p.(Ser540=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800289" "0" "90" "2" "210704109" "210704109" "subst" "6.55171E-6" "02329" "UNC80_000064" "g.210704109C>T" "" "" "" "UNC80(NM_182587.4):c.3190C>T (p.R1064*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800290" "0" "30" "2" "210801592" "210801592" "subst" "0" "01943" "UNC80_000065" "g.210801592C>T" "" "" "" "UNC80(NM_032504.1):c.6100C>T (p.P2034S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800291" "0" "30" "2" "210818852" "210818852" "subst" "3.31728E-5" "01943" "UNC80_000066" "g.210818852T>A" "" "" "" "UNC80(NM_032504.1):c.7117T>A (p.L2373I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800292" "0" "30" "2" "210840880" "210840880" "subst" "3.97477E-5" "01943" "UNC80_000067" "g.210840880C>T" "" "" "" "UNC80(NM_032504.1):c.8427C>T (p.L2809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849664" "0" "10" "2" "210745681" "210745681" "subst" "0.983684" "02326" "UNC80_000068" "g.210745681C>A" "" "" "" "UNC80(NM_032504.1):c.3983-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000849665" "0" "50" "2" "210832237" "210832237" "subst" "5.97491E-5" "01943" "UNC80_000069" "g.210832237C>T" "" "" "" "UNC80(NM_032504.1):c.7684C>T (p.R2562C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849666" "0" "50" "2" "210837868" "210837868" "subst" "9.97924E-5" "02327" "UNC80_000037" "g.210837868A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849667" "0" "30" "2" "210843338" "210843338" "subst" "1.32391E-5" "01943" "UNC80_000070" "g.210843338C>T" "" "" "" "UNC80(NM_032504.1):c.8826C>T (p.N2942=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858252" "0" "30" "2" "210682603" "210682603" "subst" "0.00361519" "01804" "UNC80_000063" "g.210682603C>G" "" "" "" "UNC80(NM_032504.1):c.1620C>G (p.S540=, p.(Ser540=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884699" "0" "50" "2" "210683829" "210683829" "subst" "0.00146474" "02325" "UNC80_000032" "g.210683829G>C" "" "" "" "UNC80(NM_032504.1):c.1806G>C (p.Q602H), UNC80(NM_032504.2):c.1806G>C (p.Q602H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884700" "0" "50" "2" "210705365" "210705365" "subst" "0.000484794" "02325" "UNC80_000019" "g.210705365G>C" "" "" "" "UNC80(NM_032504.1):c.3356G>C (p.S1119T, p.(Ser1119Thr)), UNC80(NM_032504.2):c.3356G>C (p.S1119T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884701" "0" "30" "2" "210752814" "210752814" "subst" "0" "02325" "UNC80_000071" "g.210752814T>C" "" "" "" "UNC80(NM_032504.2):c.4117-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884702" "0" "50" "2" "210786341" "210786341" "subst" "0" "02325" "UNC80_000072" "g.210786341G>A" "" "" "" "UNC80(NM_032504.2):c.5263G>A (p.A1755T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911521" "0" "10" "2" "210810599" "210810599" "subst" "0.0497244" "02326" "UNC80_000073" "g.210810599A>G" "" "" "" "UNC80(NM_032504.1):c.7020A>G (p.T2340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000974884" "0" "30" "2" "210683041" "210683041" "subst" "0" "01804" "UNC80_000074" "g.210683041C>T" "" "" "" "UNC80(NM_001371986.1):c.1693+365C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974885" "0" "50" "2" "210685285" "210685285" "subst" "0" "01804" "UNC80_000075" "g.210685285G>A" "" "" "" "UNC80(NM_001371986.1):c.2213G>A (p.(Gly738Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974886" "0" "50" "2" "210685345" "210685345" "subst" "0" "01804" "UNC80_000076" "g.210685345G>C" "" "" "" "UNC80(NM_001371986.1):c.2273G>C (p.(Gly758Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974887" "0" "50" "2" "210777386" "210777386" "subst" "1.33458E-5" "01804" "UNC80_000077" "g.210777386C>T" "" "" "" "UNC80(NM_001371986.1):c.4885C>T (p.(Leu1629Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974888" "0" "50" "2" "210806055" "210806055" "subst" "1.32244E-5" "01804" "UNC80_000078" "g.210806055A>G" "" "" "" "UNC80(NM_001371986.1):c.6757A>G (p.(Met2253Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992404" "0" "30" "2" "210642131" "210642131" "subst" "5.68523E-5" "01804" "UNC80_000079" "g.210642131C>A" "" "" "" "UNC80(NM_032504.1):c.448C>A (p.(His150Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992405" "0" "30" "2" "210678512" "210678512" "subst" "0" "01804" "UNC80_000080" "g.210678512A>G" "" "" "" "UNC80(NM_032504.1):c.1147A>G (p.(Ser383Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992406" "0" "30" "2" "210685339" "210685339" "subst" "0" "01804" "UNC80_000081" "g.210685339A>T" "" "" "" "UNC80(NM_032504.1):c.2267A>T (p.(Asp756Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992407" "0" "30" "2" "210707144" "210707144" "subst" "0.000496275" "01804" "UNC80_000082" "g.210707144A>C" "" "" "" "UNC80(NM_032504.1):c.3434A>C (p.(Glu1145Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992408" "0" "10" "2" "210786307" "210786307" "subst" "0" "01804" "UNC80_000083" "g.210786307G>C" "" "" "" "UNC80(NM_032504.1):c.5229G>C (p.(Lys1743Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000992409" "0" "50" "2" "210836992" "210836992" "subst" "2.62771E-5" "01804" "UNC80_000084" "g.210836992G>A" "" "" "" "UNC80(NM_032504.1):c.8126G>A (p.(Gly2709Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029807" "21" "90" "2" "210654330" "210654330" "subst" "0" "04169" "UNC80_000085" "g.210654330G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.209789606G>T" "" "pathogenic (recessive)" "ACMG" "0001032916" "0" "50" "2" "210683786" "210683786" "subst" "0" "01804" "UNC80_000086" "g.210683786A>C" "" "" "" "UNC80(NM_001371986.1):c.1763A>C (p.(Tyr588Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032917" "0" "50" "2" "210694011" "210694011" "subst" "8.59027E-5" "01804" "UNC80_000087" "g.210694011C>T" "" "" "" "UNC80(NM_001371986.1):c.2534C>T (p.(Thr845Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032918" "0" "50" "2" "210703947" "210703947" "subst" "0" "01804" "UNC80_000088" "g.210703947G>A" "" "" "" "UNC80(NM_001371986.1):c.3043G>A (p.(Asp1015Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032919" "0" "50" "2" "210795743" "210795743" "subst" "6.58736E-6" "01804" "UNC80_000089" "g.210795743C>T" "" "" "" "UNC80(NM_001371986.1):c.5959C>T (p.(Pro1987Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032920" "0" "50" "2" "210804206" "210804206" "subst" "0" "01804" "UNC80_000090" "g.210804206G>A" "" "" "" "UNC80(NM_001371986.1):c.6476G>A (p.(Arg2159Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032921" "0" "50" "2" "210843424" "210843424" "subst" "0" "01804" "UNC80_000091" "g.210843424A>G" "" "" "" "UNC80(NM_001371986.1):c.9110A>G (p.(Asp3037Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032922" "0" "50" "2" "210858816" "210858816" "subst" "7.9321E-5" "01804" "UNC80_000092" "g.210858816T>C" "" "" "" "UNC80(NM_001371986.1):c.9536T>C (p.(Ile3179Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047588" "11" "90" "2" "210800443" "210806412" "del" "0" "04169" "UNC80_000093" "g.(?_210800443)_(210806412_?)del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.(?_209935719)_(209941688_?)del" "" "pathogenic (recessive)" "" "0001051017" "0" "50" "2" "210685084" "210685084" "subst" "1.3143E-5" "01804" "UNC80_000094" "g.210685084G>A" "" "" "" "UNC80(NM_001371986.1):c.2012G>A (p.(Arg671His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051018" "0" "30" "2" "210745675" "210745675" "subst" "0" "01804" "UNC80_000095" "g.210745675C>G" "" "" "" "UNC80(NM_001371986.1):c.3977-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051019" "0" "50" "2" "210769540" "210769540" "subst" "6.56892E-6" "01804" "UNC80_000096" "g.210769540T>C" "" "" "" "UNC80(NM_001371986.1):c.4633T>C (p.(Tyr1545His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051020" "0" "50" "2" "210808171" "210808171" "subst" "0" "01804" "UNC80_000097" "g.210808171A>G" "" "" "" "UNC80(NM_001371986.1):c.6983A>G (p.(Tyr2328Cys))" "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 UNC80 ## Count = 109 "{{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}}" "0000086031" "00024138" "50" "1020" "0" "1020" "0" "c.1020G>T" "r.(?)" "p.(Gln340His)" "8" "0000086032" "00024138" "50" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(Pro341Ser)" "8" "0000097082" "00024138" "70" "3793" "0" "3793" "0" "c.3793C>T" "r.(?)" "p.(Arg1265*)" "23" "0000097084" "00024138" "70" "3793" "0" "3793" "0" "c.3793C>T" "r.(?)" "p.(Arg1265*)" "23" "0000097085" "00024138" "70" "3793" "0" "3793" "0" "c.3793C>T" "r.(?)" "p.(Arg1265*)" "23" "0000097086" "00024138" "70" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Arg360*)" "8" "0000097088" "00024138" "70" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Val189Met)" "4" "0000097089" "00024138" "70" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Val189Met)" "4" "0000097096" "00024138" "70" "5098" "0" "5098" "0" "c.5098C>T" "r.(?)" "p.(Pro1700Ser)" "32" "0000097097" "00024138" "70" "7607" "0" "7607" "0" "c.7607G>C" "r.(?)" "p.(Arg2536Thr)" "50" "0000097098" "00024138" "70" "7757" "0" "7757" "0" "c.7757T>A" "r.(?)" "p.(Leu2586*)" "51" "0000097099" "00024138" "70" "2033" "0" "2033" "0" "c.2033del" "r.(?)" "p.(Asn678Thrfs*15)" "13" "0000097100" "00024138" "70" "2033" "0" "2033" "0" "c.2033del" "r.(?)" "p.(Asn678Thrfs*15)" "13" "0000097101" "00024138" "90" "7757" "0" "7757" "0" "c.7757T>A" "r.(?)" "p.(Leu2586*)" "51" "0000130252" "00024138" "90" "151" "0" "151" "0" "c.151C>T" "r.(?)" "p.(Arg51*)" "" "0000164581" "00024138" "70" "3719" "0" "3719" "0" "c.3719G>A" "r.(?)" "p.(Trp1240*)" "23" "0000164582" "00024138" "70" "4926" "0" "4937" "0" "c.4926_4937del" "r.(?)" "p.(Asn1643_Leu1646del)" "31" "0000165266" "00024138" "70" "4963" "0" "4963" "0" "c.4963C>T" "r.(?)" "p.(Arg1655Cys)" "31" "0000165267" "00024138" "70" "8385" "0" "8385" "0" "c.8385C>G" "r.(?)" "p.(Tyr2795*)" "55" "0000250575" "00024138" "50" "3256" "3" "3256" "3" "c.3256+3A>G" "r.spl?" "p.?" "" "0000256051" "00024138" "50" "8626" "0" "8626" "0" "c.8626A>G" "r.(?)" "p.(Ile2876Val)" "" "0000319308" "00024138" "30" "2382" "0" "2382" "0" "c.2382C>T" "r.(?)" "p.(Ile794=)" "" "0000319309" "00024138" "50" "3169" "0" "3169" "0" "c.3169C>T" "r.(?)" "p.(His1057Tyr)" "" "0000319310" "00024138" "50" "3356" "0" "3356" "0" "c.3356G>C" "r.(?)" "p.(Ser1119Thr)" "" "0000319311" "00024138" "30" "7272" "0" "7272" "0" "c.7272C>T" "r.(?)" "p.(Ala2424=)" "" "0000319312" "00024138" "50" "8254" "0" "8254" "0" "c.8254C>T" "r.(?)" "p.(Arg2752Trp)" "" "0000328069" "00024138" "50" "1313" "0" "1313" "0" "c.1313T>C" "r.(?)" "p.(Leu438Pro)" "" "0000328070" "00024138" "30" "3932" "0" "3932" "0" "c.3932C>T" "r.(?)" "p.(Thr1311Ile)" "" "0000341817" "00024138" "50" "3793" "0" "3793" "0" "c.3793C>T" "r.(?)" "p.(Arg1265Ter)" "" "0000341881" "00024138" "90" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(Arg137Ter)" "" "0000342726" "00024138" "50" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Arg360Ter)" "" "0000345339" "00024138" "50" "8918" "0" "8918" "0" "c.8918A>T" "r.(?)" "p.(Glu2973Val)" "" "0000349713" "00024138" "90" "5093" "0" "5093" "0" "c.5093G>A" "r.(?)" "p.(Trp1698Ter)" "" "0000350455" "00024138" "50" "8770" "0" "8770" "0" "c.8770G>A" "r.(?)" "p.(Val2924Met)" "" "0000514059" "00024138" "30" "92" "7" "92" "7" "c.92+7G>A" "r.(=)" "p.(=)" "" "0000514061" "00024138" "30" "857" "0" "857" "0" "c.857T>C" "r.(?)" "p.(Ile286Thr)" "" "0000514062" "00024138" "90" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Arg291Ter)" "" "0000514065" "00024138" "30" "1806" "0" "1806" "0" "c.1806G>C" "r.(?)" "p.(Gln602His)" "" "0000514066" "00024138" "50" "1806" "0" "1806" "0" "c.1806G>C" "r.(?)" "p.(Gln602His)" "" "0000514068" "00024138" "30" "3356" "0" "3356" "0" "c.3356G>C" "r.(?)" "p.(Ser1119Thr)" "" "0000514069" "00024138" "30" "4374" "0" "4374" "0" "c.4374G>A" "r.(?)" "p.(Ser1458=)" "" "0000514071" "00024138" "30" "6449" "-6" "6449" "-6" "c.6449-6T>C" "r.(=)" "p.(=)" "" "0000514073" "00024138" "50" "8391" "0" "8391" "0" "c.8391G>A" "r.(?)" "p.(Ala2797=)" "" "0000514074" "00024138" "30" "8981" "0" "8981" "0" "c.8981T>C" "r.(?)" "p.(Ile2994Thr)" "" "0000607405" "00024138" "50" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Gly134Ser)" "" "0000607407" "00024138" "50" "1020" "0" "1020" "0" "c.1020G>T" "r.(?)" "p.(Gln340His)" "" "0000607408" "00024138" "50" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(Pro341Ser)" "" "0000607409" "00024138" "30" "2471" "0" "2471" "0" "c.2471G>A" "r.(?)" "p.(Arg824Gln)" "" "0000607410" "00024138" "50" "4442" "0" "4442" "0" "c.4442A>G" "r.(?)" "p.(His1481Arg)" "" "0000607411" "00024138" "30" "5301" "0" "5301" "0" "c.5301A>G" "r.(?)" "p.(Thr1767=)" "" "0000607412" "00024138" "30" "8626" "0" "8626" "0" "c.8626A>G" "r.(?)" "p.(Ile2876Val)" "" "0000620928" "00024138" "50" "8330" "0" "8330" "0" "c.8330C>T" "r.(?)" "p.(Ala2777Val)" "" "0000620929" "00024138" "30" "9735" "0" "9735" "0" "c.9735G>A" "r.(?)" "p.(Glu3245=)" "" "0000645291" "00024138" "70" "8574" "2" "8574" "2" "c.8574+2T>G" "r.spl?" "p.?" "" "0000650413" "00024138" "30" "9305" "0" "9305" "0" "c.9305C>T" "r.(?)" "p.(Pro3102Leu)" "" "0000676453" "00024138" "50" "3473" "0" "3473" "0" "c.3473T>G" "r.(?)" "p.(Phe1158Cys)" "" "0000676454" "00024138" "30" "3842" "0" "3842" "0" "c.3842G>C" "r.(?)" "p.(Gly1281Ala)" "" "0000676455" "00024138" "50" "4838" "0" "4838" "0" "c.4838T>C" "r.(?)" "p.(Met1613Thr)" "" "0000718402" "00024138" "30" "601" "-5" "601" "-5" "c.601-5C>A" "r.spl?" "p.?" "" "0000718403" "00024138" "50" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Arg522Trp)" "" "0000718404" "00024138" "50" "2286" "0" "2294" "0" "c.2286_2294del" "r.(?)" "p.(Gly764_Gly766del)" "" "0000718405" "00024138" "30" "2700" "0" "2700" "0" "c.2700C>T" "r.(?)" "p.(Ile900=)" "" "0000718406" "00024138" "30" "3846" "0" "3846" "0" "c.3846C>T" "r.(?)" "p.(Asp1282=)" "" "0000718407" "00024138" "90" "7607" "0" "7607" "0" "c.7607G>C" "r.(?)" "p.(Arg2536Thr)" "" "0000718408" "00024138" "30" "8337" "0" "8337" "0" "c.8337A>G" "r.(?)" "p.(Lys2779=)" "" "0000763181" "00024138" "90" "3793" "0" "3793" "0" "c.3793C>T" "r.(?)" "p.(Arg1265*)" "" "0000763192" "00024138" "90" "3793" "0" "3793" "0" "c.3793C>T" "r.(?)" "p.(Arg1265*)" "" "0000763200" "00024138" "70" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Arg360*)" "" "0000787078" "00024138" "70" "8216" "0" "8228" "0" "c.8216_8228del" "r.(?)" "p.(Leu2739GlnfsTer22)" "55" "0000795652" "00024138" "70" "7697" "0" "7697" "0" "c.7697A>C" "r.(?)" "p.(Glu2566Ala)" "" "0000800288" "00024138" "30" "1620" "0" "1620" "0" "c.1620C>G" "r.(?)" "p.(Ser540=)" "" "0000800289" "00024138" "90" "3205" "0" "3205" "0" "c.3205C>T" "r.(?)" "p.(Arg1069*)" "" "0000800290" "00024138" "30" "6100" "0" "6100" "0" "c.6100C>T" "r.(?)" "p.(Pro2034Ser)" "" "0000800291" "00024138" "30" "7117" "0" "7117" "0" "c.7117T>A" "r.(?)" "p.(Leu2373Ile)" "" "0000800292" "00024138" "30" "8427" "0" "8427" "0" "c.8427C>T" "r.(?)" "p.(Leu2809=)" "" "0000849664" "00024138" "10" "3983" "-4" "3983" "-4" "c.3983-4C>A" "r.spl?" "p.?" "" "0000849665" "00024138" "50" "7684" "0" "7684" "0" "c.7684C>T" "r.(?)" "p.(Arg2562Cys)" "" "0000849666" "00024138" "50" "8263" "0" "8263" "0" "c.8263A>G" "r.(?)" "p.(Ser2755Gly)" "" "0000849667" "00024138" "30" "8826" "0" "8826" "0" "c.8826C>T" "r.(?)" "p.(Asn2942=)" "" "0000858252" "00024138" "30" "1620" "0" "1620" "0" "c.1620C>G" "r.(?)" "p.(Ser540=)" "" "0000884699" "00024138" "50" "1806" "0" "1806" "0" "c.1806G>C" "r.(?)" "p.(Gln602His)" "" "0000884700" "00024138" "50" "3356" "0" "3356" "0" "c.3356G>C" "r.(?)" "p.(Ser1119Thr)" "" "0000884701" "00024138" "30" "4117" "-5" "4117" "-5" "c.4117-5T>C" "r.spl?" "p.?" "" "0000884702" "00024138" "50" "5263" "0" "5263" "0" "c.5263G>A" "r.(?)" "p.(Ala1755Thr)" "" "0000911521" "00024138" "10" "7020" "0" "7020" "0" "c.7020A>G" "r.(?)" "p.(Thr2340=)" "" "0000974884" "00024138" "30" "1693" "365" "1693" "365" "c.1693+365C>T" "r.(=)" "p.(=)" "" "0000974885" "00024138" "50" "2213" "0" "2213" "0" "c.2213G>A" "r.(?)" "p.(Gly738Glu)" "" "0000974886" "00024138" "50" "2273" "0" "2273" "0" "c.2273G>C" "r.(?)" "p.(Gly758Ala)" "" "0000974887" "00024138" "50" "4687" "0" "4687" "0" "c.4687C>T" "r.(?)" "p.(Leu1563Phe)" "" "0000974888" "00024138" "50" "6559" "0" "6559" "0" "c.6559A>G" "r.(?)" "p.(Met2187Val)" "" "0000992404" "00024138" "30" "448" "0" "448" "0" "c.448C>A" "r.(?)" "p.(His150Asn)" "" "0000992405" "00024138" "30" "1147" "0" "1147" "0" "c.1147A>G" "r.(?)" "p.(Ser383Gly)" "" "0000992406" "00024138" "30" "2267" "0" "2267" "0" "c.2267A>T" "r.(?)" "p.(Asp756Val)" "" "0000992407" "00024138" "30" "3434" "0" "3434" "0" "c.3434A>C" "r.(?)" "p.(Glu1145Ala)" "" "0000992408" "00024138" "10" "5229" "0" "5229" "0" "c.5229G>C" "r.(?)" "p.(Lys1743Asn)" "" "0000992409" "00024138" "50" "8126" "0" "8126" "0" "c.8126G>A" "r.(?)" "p.(Gly2709Glu)" "" "0001029807" "00024138" "90" "798" "1" "798" "1" "c.798+1G>T" "r.spl" "p.?" "" "0001032916" "00024138" "50" "1763" "0" "1763" "0" "c.1763A>C" "r.(?)" "p.(Tyr588Ser)" "" "0001032917" "00024138" "50" "2534" "0" "2534" "0" "c.2534C>T" "r.(?)" "p.(Thr845Ile)" "" "0001032918" "00024138" "50" "3043" "0" "3043" "0" "c.3043G>A" "r.(?)" "p.(Asp1015Asn)" "" "0001032919" "00024138" "50" "5761" "0" "5761" "0" "c.5761C>T" "r.(?)" "p.(Pro1921Ser)" "" "0001032920" "00024138" "50" "6278" "0" "6278" "0" "c.6278G>A" "r.(?)" "p.(Arg2093Gln)" "" "0001032921" "00024138" "50" "8912" "0" "8912" "0" "c.8912A>G" "r.(?)" "p.(Asp2971Gly)" "" "0001032922" "00024138" "50" "9338" "0" "9338" "0" "c.9338T>C" "r.(?)" "p.(Ile3113Thr)" "" "0001047588" "00024138" "90" "5986" "0" "6717" "199" "c.(?_5986)_(6717+199_?)del" "r.?" "p.?" "" "0001051017" "00024138" "50" "2012" "0" "2012" "0" "c.2012G>A" "r.(?)" "p.(Arg671His)" "" "0001051018" "00024138" "30" "3983" "-10" "3983" "-10" "c.3983-10C>G" "r.(=)" "p.(=)" "" "0001051019" "00024138" "50" "4435" "0" "4435" "0" "c.4435T>C" "r.(?)" "p.(Tyr1479His)" "" "0001051020" "00024138" "50" "6785" "0" "6785" "0" "c.6785A>G" "r.(?)" "p.(Tyr2262Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{variantid}}" "0000056001" "0000086031" "0000056001" "0000086032" "0000065407" "0000097082" "0000065408" "0000097084" "0000065409" "0000097085" "0000065410" "0000097086" "0000065411" "0000097088" "0000065413" "0000097089" "0000065417" "0000097096" "0000065418" "0000097097" "0000065419" "0000097098" "0000065419" "0000097099" "0000065420" "0000097100" "0000065420" "0000097101" "0000081166" "0000130252" "0000101839" "0000164581" "0000101839" "0000164582" "0000102524" "0000165266" "0000102524" "0000165267" "0000289362" "0000645291" "0000293724" "0000650413" "0000362807" "0000763181" "0000362818" "0000763192" "0000362826" "0000763200" "0000375727" "0000787078" "0000382018" "0000795652" "0000465994" "0001047588" "0000465995" "0001029807"