### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLITRK2) # 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}}" "SLITRK2" "SLIT and NTRK-like family, member 2" "X" "q27.3" "unknown" "NC_000023.10" "UD_132085319676" "" "https://www.LOVD.nl/SLITRK2" "" "1" "13449" "84631" "300561" "1" "1" "1" "1" "Alias cXORF1, cXORF2, KIAA1854, TMEM257.\r\nThis gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/SLITRK2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2024-01-15 11:21:11" "00000" "2024-09-05 10:17:02" ## 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}}" "00000888" "SLITRK2" "transcript variant 1" "001" "NM_032539.4" "" "NP_115928.1" "" "" "" "-990" "3417" "2538" "144899347" "144907360" "00000" "2012-09-13 12:57:37" "" "" ## 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" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07044" "XLID111" "intellectual developmental disorder, X-linked, type 111" "XL" "301107" "" "" "" "00006" "2023-11-14 17:20:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLITRK2" "07044" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{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" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00173360" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173361" "" "" "" "3" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173362" "" "" "" "147" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173363" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173662" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00441868" "" "" "" "1" "" "04590" "" "" "M" "no" "" "" "" "" "" "South Asian" "ID1-3" "00441894" "" "" "" "2" "" "00006" "{PMID:El Chehadeh 2022:35840571}" "2-generation family, 2 affected brothers (2M), unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "white" "Fam1Pat1" "00441895" "" "" "00441894" "1" "" "00006" "{PMID:El Chehadeh 2022:35840571}" "brother" "M" "" "France" "" "0" "" "" "white" "Fam1Pat2" "00441896" "" "" "" "1" "" "00006" "{PMID:El Chehadeh 2022:35840571}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "United States" "" "0" "" "" "white" "Pat3" "00441897" "" "" "" "1" "" "00006" "{PMID:El Chehadeh 2022:35840571}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Italy" "" "0" "" "" "" "Pat4" "00441898" "" "" "" "1" "" "00006" "{PMID:El Chehadeh 2022:35840571}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "United States" "" "0" "" "" "" "Pat5" "00441899" "" "" "" "1" "" "00006" "{PMID:El Chehadeh 2022:35840571}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Netherlands" "" "0" "" "" "" "Pat7" "00441900" "" "" "" "1" "" "00006" "{PMID:El Chehadeh 2022:35840571}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Denmark" "" "0" "" "" "" "Pat8" "00441901" "" "" "" "1" "" "00006" "{PMID:El Chehadeh 2022:35840571}" "" "M" "" "" "" "0" "" "" "" "Pat9" "00441902" "" "" "" "1" "" "00006" "{PMID:El Chehadeh 2022:35840571}" "2-generation family, 1 affected, unaffected carrier mother/grandmother" "M" "" "United States" "" "0" "" "" "" "Pat10" "00441903" "" "" "" "1" "" "00006" "{PMID:El Chehadeh 2022:35840571}" "" "M" "" "" "" "0" "" "" "" "Pat11" "00441904" "" "" "" "1" "" "00006" "{PMID:El Chehadeh 2022:35840571}" "" "M" "" "" "" "0" "" "" "" "Pat12" "00441905" "" "" "" "1" "" "00006" "{PMID:El Chehadeh 2022:35840571}" "" "M" "" "" "" "0" "" "" "" "Pat13" "00441906" "" "" "" "1" "" "00006" "{PMID:El Chehadeh 2022:35840571}" "" "M" "" "" "" "0" "" "" "" "Pat14" "00441907" "" "" "" "1" "" "00006" "{PMID:El Chehadeh 2022:35840571}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER" "00441908" "" "" "" "1" "" "00006" "{PMID:El Chehadeh 2022:35840571}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER" "00443463" "" "" "" "1" "" "03566" "{DOI:Afsar 2024:10.3389/fgene.2023.1308116}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "(Pakistan)" "" "0" "" "" "" "SLITRK2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00173360" "00187" "00173361" "00187" "00173362" "00187" "00173363" "00187" "00173662" "00187" "00441868" "00139" "00441894" "05611" "00441895" "05611" "00441896" "05611" "00441897" "05611" "00441898" "05611" "00441899" "05611" "00441900" "05611" "00441901" "05611" "00441902" "05611" "00441903" "05611" "00441904" "05611" "00441905" "05611" "00441906" "05611" "00441907" "05611" "00441908" "05611" "00443463" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 01157, 05611, 07044 ## Count = 16 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "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" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000138224" "00187" "00173360" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138225" "00187" "00173361" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138226" "00187" "00173362" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138227" "00187" "00173363" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138526" "00187" "00173662" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000331283" "05611" "00441894" "00006" "Isolated (sporadic)" "20y" "see paper; ..., OFC >+2 SDS; height 0 SDS; no feeding difficulties; no kyphoscoliosis; developmental delay; speech delay; mild intellectual disability; no seizures; no spasticity, no dystonia; steady gait; anxiety; MRI brain normal" "" "" "" "" "" "" "" "" "" "XLID111" "neurodevelopmental dealy" "" "0000331284" "05611" "00441895" "00006" "Isolated (sporadic)" "28y" "see paper; ..., OFC >+2 SDS; height 0 SDS; no feeding difficulties; no kyphoscoliosis; developmental delay; speech delay; moderate/severe intellectual disability; no seizures; no spasticity, no dystonia; steady gait; major anxiety, autism spectrum disorder, mutism, aggressiveness; MRI brain normal" "" "" "" "" "" "" "" "" "" "XLID111" "neurodevelopmental dealy" "" "0000331285" "05611" "00441896" "00006" "Familial, X-linked" "21y" "see paper; ..., height <−5 SDS; feeding difficulties, gastric tube feeding; kyphoscoliosis; developmental delay, normal before regression; speech regression; severe intellectual disability; 10y-seizures, multifocal, prominent in left central region; spasticity; unsteady gait, 21y-wheelchair-bound; no neuropsychiatric manifestations; MRI brain severe cerebral and cerebellar volume loss, ventricle dilation, atrophy of corpus callosum and brainstem, bilateral hippocampal atrophy with increased FLAIR signal" "" "" "" "" "" "" "" "" "" "XLID111" "neurodevelopmental dealy" "" "0000331286" "05611" "00441897" "00006" "Isolated (sporadic)" "13y" "see paper; ..., OFC <−2 SDS; height -2.5 SDS; feeding difficulties, gastroesophageal reflux; kyphoscoliosis; developmental delay; no speech; severe intellectual disability; 11m-seizures, generalized seizures; diplegic cerebral palsy; unsteady gait, walks with support; autism spectrum disorder, anxiety, mutism, aggressiveness; MRI brain thin corpus callosum, white matter diffuse reduction, and leukomalacia" "" "" "" "" "" "" "" "" "" "XLID111" "neurodevelopmental dealy" "" "0000331287" "05611" "00441898" "00006" "Unknown" "12y" "see paper; ..., short stature (<−2 DS); feeding difficulties, gastroesophageal reflux, percutaneous endoscopic gastrostomy; kyphoscoliosis; developmental delay; speech delay; moderate/severe intellectual disability; no seizures; dystonic diplegia; unsteady gait, uses a walker and wheelchair for getting around; anxiety, attention-deficit hyperactivity disorder; MRI brain paucity of white matter, bilateral periventricular lesions, lateral ventricles dilation" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" "0000331288" "05611" "00441899" "00006" "Familial, X-linked" "12y" "see paper; ..., OFC +1.5 SDS; height +1 SDS; no feeding difficulties; kyphoscoliosis; developmental delay; speech delay; moderate/severe intellectual disability; no seizures; no spasticity, no dystonia; unsteady gait; autism spectrum disorder, anxiety, hyperactivity" "" "" "" "" "" "" "" "" "" "XLID111" "neurodevelopmental dealy" "" "0000331289" "05611" "00441900" "00006" "Familial, X-linked" "11y" "see paper; ..., height +0.5 SDS; no feeding difficulties; no kyphoscoliosis; developmental delay; speech delay; mild intellectual disability; 8y-seizures, focal seizures; no spasticity, no dystonia; steady gait; anxiety, attention-deficit hyperactivity disorder, very sensitive, easily frustrated; MRI brain unspecific minor white substance punctate changes on the right side around the trigonum" "" "" "" "" "" "" "" "" "" "XLID111" "neurodevelopmental dealy" "" "0000331290" "05611" "00441902" "00006" "Unknown" "8y" "see paper; ..., OFC +0.8 SDS; height +0.5 SDS; feeding difficulties, gastroesophageal reflux; no kyphoscoliosis; developmental delay; language impairment; border line intellectual disability; no seizures; no spasticity, no dystonia; steady gait; autism spectrum disorder, severe anxiety, attention-deficit hyperactivity disorder, OCD, vocal tics" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" "0000332800" "00198" "00443463" "03566" "Familial, X-linked" "" "Developmental delay, hypotonia" "" "" "11y" "" "" "" "" "" "" "Neuro developmental disorder" "Neuro developmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{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" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000174243" "00173360" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174244" "00173361" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174245" "00173362" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174246" "00173363" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174545" "00173662" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000443353" "00441868" "1" "04590" "04590" "2023-11-14 10:20:04" "" "" "SEQ-NG" "DNA" "" "" "0000443379" "00441894" "1" "00006" "00006" "2023-11-14 19:43:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443380" "00441895" "1" "00006" "00006" "2023-11-14 19:43:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443381" "00441896" "1" "00006" "00006" "2023-11-14 19:43:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443382" "00441897" "1" "00006" "00006" "2023-11-14 19:43:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443383" "00441898" "1" "00006" "00006" "2023-11-14 19:43:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443384" "00441899" "1" "00006" "00006" "2023-11-14 19:43:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443385" "00441900" "1" "00006" "00006" "2023-11-14 19:43:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443386" "00441901" "1" "00006" "00006" "2023-11-14 19:43:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443387" "00441902" "1" "00006" "00006" "2023-11-14 19:43:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443388" "00441903" "1" "00006" "00006" "2023-11-14 19:43:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443389" "00441904" "1" "00006" "00006" "2023-11-14 19:43:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443390" "00441905" "1" "00006" "00006" "2023-11-14 19:43:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443391" "00441906" "1" "00006" "00006" "2023-11-14 19:43:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443392" "00441907" "1" "00006" "00006" "2023-11-14 19:43:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443393" "00441908" "1" "00006" "00006" "2023-11-14 19:43:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444954" "00443463" "1" "03566" "03566" "2023-11-27 13:09:52" "" "" "SEQ-NG-IT" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000174243" "SMARCA1" "0000174244" "STARD8" "0000174245" "STARD8" "0000174246" "SYAP1" "0000174545" "MOSPD2" "0000443353" "SLITRK2" ## 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 = 61 "{{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}}" "0000002187" "0" "50" "X" "144902619" "144902620" "del" "0" "00037" "SLITRK2_000008" "g.144902619_144902620del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.145821101_145821102del" "" "VUS" "" "0000003281" "20" "50" "X" "144900786" "144900786" "del" "0" "00037" "SLITRK2_000020" "g.144900786del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.145819268del" "" "VUS" "" "0000003282" "0" "50" "X" "144903502" "144903502" "del" "0" "00037" "SLITRK2_000015" "g.144903502del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.145821984del" "" "VUS" "" "0000003283" "20" "50" "X" "144906687" "144906690" "del" "0" "00037" "SLITRK2_000018" "g.144906687_144906690del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.145825169_145825172del" "" "VUS" "" "0000007800" "20" "50" "X" "144904882" "144904882" "subst" "0.900901" "00037" "SLITRK2_000001" "g.144904882T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.145823364T>C" "" "VUS" "" "0000009954" "20" "50" "X" "144900795" "144900795" "del" "0" "00037" "SLITRK2_000014" "g.144900795del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.145819277del" "" "VUS" "" "0000009955" "0" "50" "X" "144902639" "144902640" "del" "0" "00037" "SLITRK2_000009" "g.144902639_144902640del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.145821121_145821122del" "" "VUS" "" "0000009956" "20" "50" "X" "144904882" "144904882" "subst" "0.900901" "00037" "SLITRK2_000001" "g.144904882T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.145823364T>C" "" "VUS" "" "0000009957" "20" "50" "X" "144906707" "144906709" "del" "0" "00037" "SLITRK2_000007" "g.144906707_144906709del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.145825189_145825191del" "" "VUS" "" "0000011268" "20" "50" "X" "144900786" "144900786" "del" "0" "00037" "SLITRK2_000020" "g.144900786del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.145819268del" "" "VUS" "" "0000011269" "0" "50" "X" "144903502" "144903502" "del" "0" "00037" "SLITRK2_000015" "g.144903502del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.145821984del" "" "VUS" "" "0000011270" "0" "50" "X" "144906687" "144906689" "del" "0" "00037" "SLITRK2_000017" "g.144906687_144906689del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.145825169_145825171del" "" "VUS" "" "0000011271" "0" "50" "X" "144906687" "144906691" "del" "0" "00037" "SLITRK2_000019" "g.144906687_144906691del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.145825169_145825173del" "" "VUS" "" "0000308542" "0" "50" "X" "144903986" "144903986" "subst" "0" "01943" "SLITRK2_000022" "g.144903986G>A" "" "" "" "SLITRK2(NM_032539.4):c.43G>A (p.G15R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145822468G>A" "" "VUS" "" "0000335804" "0" "50" "X" "144903969" "144903969" "subst" "0" "01804" "SLITRK2_000021" "g.144903969G>T" "" "" "" "SLITRK2(NM_032539.4):c.26G>T (p.(Ser9Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145822451G>T" "" "VUS" "" "0000335805" "0" "50" "X" "144904813" "144904813" "subst" "0.000896143" "01804" "SLITRK2_000023" "g.144904813T>G" "" "" "" "SLITRK2(NM_001144003.2):c.870T>G (p.(Asn290Lys)), SLITRK2(NM_032539.4):c.870T>G (p.N290K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145823295T>G" "" "VUS" "" "0000335808" "0" "50" "X" "144905747" "144905747" "subst" "0" "01804" "SLITRK2_000025" "g.144905747C>T" "" "" "" "SLITRK2(NM_001144003.2):c.1804C>T (p.(Leu602Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145824229C>T" "" "VUS" "" "0000335812" "0" "50" "X" "144909459" "144909459" "subst" "0.000283461" "01804" "CXorf1_000009" "g.144909459G>T" "" "" "" "TMEM257(NM_004709.2):c.264G>T (p.(Met88Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145827941G>T" "" "VUS" "" "0000339120" "0" "50" "X" "144904164" "144904164" "subst" "0" "02327" "SLITRK2_000028" "g.144904164T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145822646T>C" "" "VUS" "" "0000347888" "0" "50" "X" "144906047" "144906047" "subst" "0" "02327" "SLITRK2_000030" "g.144906047A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145824529A>G" "" "VUS" "" "0000348370" "0" "50" "X" "144904874" "144904874" "subst" "0" "02327" "SLITRK2_000029" "g.144904874C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145823356C>G" "" "VUS" "" "0000401290" "1" "30" "X" "144905438" "144905438" "subst" "0.0638935" "00124" "SLITRK2_000032" "g.144905438C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L499L" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.145823920C>T" "" "likely benign" "" "0000401291" "1" "30" "X" "144905816" "144905816" "subst" "0.00350759" "00124" "SLITRK2_000034" "g.144905816T>C" "3/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L625L" "recurrent, found 3 times" "Germline" "" "" "0" "" "" "g.145824298T>C" "" "likely benign" "" "0000401292" "1" "30" "X" "144904882" "144904882" "subst" "0.900901" "00124" "SLITRK2_000001" "g.144904882T>C" "147/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P313P" "recurrent, found 147 times" "Germline" "" "" "0" "" "" "g.145823364T>C" "" "likely benign" "" "0000401293" "1" "30" "X" "144904930" "144904930" "subst" "0.000330098" "00124" "SLITRK2_000031" "g.144904930G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "V329V" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.145823412G>A" "" "likely benign" "" "0000401294" "1" "50" "X" "144905744" "144905744" "subst" "0.059955" "00124" "SLITRK2_000033" "g.144905744T>C" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S601P" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.145824226T>C" "" "VUS" "" "0000573995" "0" "30" "X" "144904813" "144904813" "subst" "0.000896143" "01943" "SLITRK2_000023" "g.144904813T>G" "" "" "" "SLITRK2(NM_001144003.2):c.870T>G (p.(Asn290Lys)), SLITRK2(NM_032539.4):c.870T>G (p.N290K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.145823295T>G" "" "likely benign" "" "0000573996" "0" "50" "X" "144905394" "144905394" "subst" "1.13738E-5" "01943" "CXorf1_000005" "g.144905394G>A" "" "" "" "SLITRK2(NM_032539.4):c.1451G>A (p.R484Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.145823876G>A" "" "VUS" "" "0000573997" "0" "30" "X" "144905411" "144905411" "subst" "0" "01943" "CXorf1_000006" "g.144905411A>G" "" "" "" "SLITRK2(NM_032539.4):c.1468A>G (p.I490V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.145823893A>G" "" "likely benign" "" "0000573998" "0" "30" "X" "144906443" "144906443" "subst" "5.78607E-6" "02327" "CXorf1_000007" "g.144906443G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.145824925G>A" "" "likely benign" "" "0000619090" "0" "30" "X" "144904384" "144904384" "subst" "4.476E-5" "01943" "CXorf1_000010" "g.144904384T>C" "" "" "" "SLITRK2(NM_032539.4):c.441T>C (p.S147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.145822866T>C" "" "likely benign" "" "0000619091" "0" "30" "X" "144905479" "144905479" "subst" "0" "01943" "CXorf1_000012" "g.144905479A>G" "" "" "" "SLITRK2(NM_032539.4):c.1536A>G (p.K512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.145823961A>G" "" "likely benign" "" "0000619092" "0" "30" "X" "144906098" "144906098" "subst" "2.81646E-5" "02327" "CXorf1_000013" "g.144906098A>G" "" "" "" "SLITRK2(NM_032539.5):c.2155A>G (p.S719G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.145824580A>G" "" "likely benign" "" "0000624457" "0" "30" "X" "144904567" "144904567" "subst" "0" "01943" "CXorf1_000011" "g.144904567C>T" "" "" "" "SLITRK2(NM_032539.4):c.624C>T (p.I208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.145823049C>T" "" "likely benign" "" "0000659117" "0" "50" "X" "144904094" "144904094" "subst" "0" "01943" "CXorf1_000014" "g.144904094T>C" "" "" "" "SLITRK2(NM_032539.4):c.151T>C (p.F51L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.145822576T>C" "" "VUS" "" "0000809982" "0" "30" "X" "144905650" "144905650" "subst" "0" "01943" "CXorf1_000015" "g.144905650A>C" "" "" "" "SLITRK2(NM_032539.4):c.1707A>C (p.L569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867114" "0" "30" "X" "144906162" "144906162" "subst" "0.00023522" "01943" "SLITRK2_000026" "g.144906162C>T" "" "" "" "SLITRK2(NM_032539.4):c.2219C>T (p.T740I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895960" "0" "50" "X" "144905891" "144905891" "subst" "0" "02325" "CXorf1_000016" "g.144905891G>A" "" "" "" "SLITRK2(NM_032539.5):c.1948G>A (p.V650M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895961" "0" "50" "X" "144906400" "144906400" "subst" "0" "02329" "CXorf1_000017" "g.144906400C>A" "" "" "" "SLITRK2(NM_001144005.3):c.2457C>A (p.H819Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927269" "0" "50" "X" "144905523" "144905523" "subst" "0" "02327" "CXorf1_000018" "g.144905523A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000944763" "21" "90" "X" "144904732" "144904732" "subst" "0" "04590" "SLITRK2_000035" "g.144904732T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.145823214T>A" "" "likely pathogenic" "" "0000944792" "0" "70" "X" "144905324" "144905324" "subst" "0" "00006" "SLITRK2_000042" "g.144905324G>T" "" "{PMID:El Chehadeh 2022:35840571}" "" "" "ACMG PM2, PS2, PS3, PP3" "De novo" "" "" "0" "" "" "g.145823806G>T" "" "likely pathogenic (recessive)" "ACMG" "0000944793" "0" "70" "X" "144905324" "144905324" "subst" "0" "00006" "SLITRK2_000042" "g.144905324G>T" "" "{PMID:El Chehadeh 2022:35840571}" "" "" "ACMG PM2, PS2, PS3, PP3" "De novo" "" "" "0" "" "" "g.145823806G>T" "" "likely pathogenic (recessive)" "ACMG" "0000944794" "21" "70" "X" "144904877" "144904877" "subst" "5.59791E-6" "00006" "SLITRK2_000039" "g.144904877A>G" "" "{PMID:El Chehadeh 2022:35840571}" "" "" "ACMG PM2, PS3, PP3" "Germline" "" "" "0" "" "" "g.145823359A>G" "" "likely pathogenic (recessive)" "ACMG" "0000944795" "0" "70" "X" "144905219" "144905219" "subst" "0" "00006" "SLITRK2_000041" "g.144905219C>T" "" "{PMID:El Chehadeh 2022:35840571}" "" "" "ACMG PM2, PS2, PS3, PP3" "De novo" "" "" "0" "" "" "g.145823701C>T" "" "likely pathogenic (recessive)" "ACMG" "0000944796" "21" "50" "X" "144905474" "144905474" "subst" "0" "00006" "SLITRK2_000043" "g.144905474G>A" "" "{PMID:El Chehadeh 2022:35840571}" "" "" "ACMG PP3" "Germline" "" "" "0" "" "" "g.145823956G>A" "" "VUS" "ACMG" "0000944797" "21" "70" "X" "144904164" "144904164" "subst" "0" "00006" "SLITRK2_000028" "g.144904164T>C" "" "{PMID:El Chehadeh 2022:35840571}" "" "" "ACMG PM2, PS3, PP1" "Germline" "" "" "0" "" "" "g.145822646T>C" "" "likely pathogenic (recessive)" "ACMG" "0000944798" "21" "70" "X" "144905064" "144905064" "subst" "0" "00006" "SLITRK2_000040" "g.144905064C>G" "" "{PMID:El Chehadeh 2022:35840571}" "" "" "ACMG PM2, PS3, PP1, PP3; de novo in unaffected mother" "Germline" "" "" "0" "" "" "g.145823546C>G" "" "likely pathogenic (recessive)" "ACMG" "0000944799" "21" "50" "X" "144906317" "144906317" "subst" "1.68037E-5" "00006" "SLITRK2_000045" "g.144906317C>T" "" "{PMID:El Chehadeh 2022:35840571}" "" "" "ACMG PP3" "Germline" "" "" "0" "" "" "g.145824799C>T" "" "VUS" "ACMG" "0000944800" "21" "50" "X" "144904571" "144904571" "subst" "0" "00006" "SLITRK2_000038" "g.144904571G>A" "" "{PMID:El Chehadeh 2022:35840571}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.145823053G>A" "" "VUS" "ACMG" "0000944801" "0" "50" "X" "144904874" "144904874" "subst" "0" "00006" "SLITRK2_000029" "g.144904874C>G" "" "{PMID:El Chehadeh 2022:35840571}" "" "" "ACMG PP3" "Germline" "" "" "0" "" "" "g.145823356C>G" "" "VUS" "ACMG" "0000944802" "0" "50" "X" "144905394" "144905394" "subst" "1.13738E-5" "00006" "CXorf1_000005" "g.144905394G>A" "" "{PMID:El Chehadeh 2022:35840571}" "" "" "ACMG PP3" "Germline" "" "" "0" "" "" "g.145823876G>A" "" "VUS" "ACMG" "0000944803" "0" "30" "X" "144904544" "144904544" "subst" "0.000240535" "00006" "SLITRK2_000037" "g.144904544G>A" "" "{PMID:El Chehadeh 2022:35840571}" "" "" "ACMG BS2, PP3" "Germline" "" "" "0" "" "" "g.145823026G>A" "" "likely benign" "ACMG" "0000944804" "0" "30" "X" "144905608" "144905608" "subst" "0" "00006" "SLITRK2_000044" "g.144905608G>C" "" "{PMID:El Chehadeh 2022:35840571}" "" "" "ACMG PM2; carries pathogenic variant in CUL4B" "Germline" "" "" "0" "" "" "g.145824090G>C" "" "likely benign" "ACMG" "0000944805" "0" "50" "X" "144903969" "144903969" "subst" "0" "00006" "SLITRK2_000021" "g.144903969G>T" "" "{PMID:El Chehadeh 2022:35840571}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.145822451G>T" "" "VUS" "ACMG" "0000944806" "0" "50" "X" "144903987" "144903987" "subst" "0" "00006" "SLITRK2_000036" "g.144903987G>A" "" "{PMID:El Chehadeh 2022:35840571}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.145822469G>A" "" "VUS" "ACMG" "0000946892" "21" "90" "X" "144904732" "144904732" "subst" "0" "03566" "SLITRK2_000035" "g.144904732T>A" "" "{DOI:Afsar 2024:10.3389/fgene.2023.1308116}" "" "" "" "Germline" "" "" "0" "" "" "g.145823214T>A" "" "VUS" "ACMG" "0000951692" "0" "50" "X" "144906098" "144906098" "subst" "2.81646E-5" "02325" "CXorf1_000013" "g.144906098A>G" "" "" "" "SLITRK2(NM_032539.5):c.2155A>G (p.S719G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984494" "0" "50" "X" "144903987" "144903987" "subst" "0" "01804" "SLITRK2_000036" "g.144903987G>A" "" "" "" "SLITRK2(NM_032539.4):c.44G>A (p.(Gly15Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006482" "0" "50" "X" "144906075" "144906075" "subst" "0" "01804" "CXorf1_000019" "g.144906075A>G" "" "" "" "SLITRK2(NM_032539.4):c.2132A>G (p.(Tyr711Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007085" "0" "50" "X" "144905318" "144905318" "subst" "0" "03779" "SLITRK2_000046" "g.144905318A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SLITRK2 ## Count = 61 "{{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}}" "0000002187" "00000888" "50" "-729" "-247" "-729" "-246" "c.-729-247_-729-246del" "r.(=)" "p.(=)" "" "0000003281" "00000888" "50" "-792" "-1206" "-792" "-1206" "c.-792-1206del" "r.(=)" "p.(=)" "" "0000003282" "00000888" "50" "-192" "-21" "-192" "-21" "c.-192-21del" "r.(=)" "p.(=)" "" "0000003283" "00000888" "50" "2744" "0" "2747" "0" "c.*206_*209del" "r.(=)" "p.(=)" "" "0000007800" "00000888" "50" "939" "0" "939" "0" "c.939T>C" "r.(?)" "p.(=)" "" "0000009954" "00000888" "50" "-792" "-1197" "-792" "-1197" "c.-792-1197del" "r.(=)" "p.(=)" "" "0000009955" "00000888" "50" "-729" "-227" "-729" "-226" "c.-729-227_-729-226del" "r.(=)" "p.(=)" "" "0000009956" "00000888" "50" "939" "0" "939" "0" "c.939T>C" "r.(?)" "p.(=)" "" "0000009957" "00000888" "50" "2764" "0" "2766" "0" "c.*226_*228del" "r.(=)" "p.(=)" "" "0000011268" "00000888" "50" "-792" "-1206" "-792" "-1206" "c.-792-1206del" "r.(=)" "p.(=)" "" "0000011269" "00000888" "50" "-192" "-21" "-192" "-21" "c.-192-21del" "r.(=)" "p.(=)" "" "0000011270" "00000888" "50" "2744" "0" "2746" "0" "c.*206_*208del" "r.(=)" "p.(=)" "" "0000011271" "00000888" "50" "2744" "0" "2748" "0" "c.*206_*210del" "r.(=)" "p.(=)" "" "0000308542" "00000888" "50" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Gly15Arg)" "" "0000335804" "00000888" "50" "26" "0" "26" "0" "c.26G>T" "r.(?)" "p.(Ser9Ile)" "" "0000335805" "00000888" "50" "870" "0" "870" "0" "c.870T>G" "r.(?)" "p.(Asn290Lys)" "" "0000335808" "00000888" "50" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Leu602Phe)" "" "0000335812" "00000888" "50" "5516" "0" "5516" "0" "c.*2978G>T" "r.(=)" "p.(=)" "" "0000339120" "00000888" "50" "221" "0" "221" "0" "c.221T>C" "r.(?)" "p.(Leu74Ser)" "" "0000347888" "00000888" "50" "2104" "0" "2104" "0" "c.2104A>G" "r.(?)" "p.(Met702Val)" "" "0000348370" "00000888" "50" "931" "0" "931" "0" "c.931C>G" "r.(?)" "p.(Pro311Ala)" "" "0000401290" "00000888" "30" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(=)" "5" "0000401291" "00000888" "30" "1873" "0" "1873" "0" "c.1873T>C" "r.(?)" "p.(=)" "5" "0000401292" "00000888" "30" "939" "0" "939" "0" "c.939T>C" "r.(?)" "p.(=)" "5" "0000401293" "00000888" "30" "987" "0" "987" "0" "c.987G>A" "r.(?)" "p.(=)" "5" "0000401294" "00000888" "50" "1801" "0" "1801" "0" "c.1801T>C" "r.(?)" "p.(Ser601Pro)" "5" "0000573995" "00000888" "30" "870" "0" "870" "0" "c.870T>G" "r.(?)" "p.(Asn290Lys)" "" "0000573996" "00000888" "50" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Arg484Gln)" "" "0000573997" "00000888" "30" "1468" "0" "1468" "0" "c.1468A>G" "r.(?)" "p.(Ile490Val)" "" "0000573998" "00000888" "30" "2500" "0" "2500" "0" "c.2500G>A" "r.(?)" "p.(Glu834Lys)" "" "0000619090" "00000888" "30" "441" "0" "441" "0" "c.441T>C" "r.(?)" "p.(Ser147=)" "" "0000619091" "00000888" "30" "1536" "0" "1536" "0" "c.1536A>G" "r.(?)" "p.(Lys512=)" "" "0000619092" "00000888" "30" "2155" "0" "2155" "0" "c.2155A>G" "r.(?)" "p.(Ser719Gly)" "" "0000624457" "00000888" "30" "624" "0" "624" "0" "c.624C>T" "r.(?)" "p.(Ile208=)" "" "0000659117" "00000888" "50" "151" "0" "151" "0" "c.151T>C" "r.(?)" "p.(Phe51Leu)" "" "0000809982" "00000888" "30" "1707" "0" "1707" "0" "c.1707A>C" "r.(?)" "p.(Leu569=)" "" "0000867114" "00000888" "30" "2219" "0" "2219" "0" "c.2219C>T" "r.(?)" "p.(Thr740Ile)" "" "0000895960" "00000888" "50" "1948" "0" "1948" "0" "c.1948G>A" "r.(?)" "p.(Val650Met)" "" "0000895961" "00000888" "50" "2457" "0" "2457" "0" "c.2457C>A" "r.(?)" "p.(His819Gln)" "" "0000927269" "00000888" "50" "1580" "0" "1580" "0" "c.1580A>G" "r.(?)" "p.(Gln527Arg)" "" "0000944763" "00000888" "90" "789" "0" "789" "0" "c.789T>A" "r.(?)" "p.(Cys263*)" "5" "0000944792" "00000888" "70" "1381" "0" "1381" "0" "c.1381G>T" "r.(?)" "p.(Glu461Ter)" "" "0000944793" "00000888" "70" "1381" "0" "1381" "0" "c.1381G>T" "r.(?)" "p.(Glu461Ter)" "" "0000944794" "00000888" "70" "934" "0" "934" "0" "c.934A>G" "r.(?)" "p.(Thr312Ala)" "" "0000944795" "00000888" "70" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Arg426Cys)" "" "0000944796" "00000888" "50" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Val511Met)" "" "0000944797" "00000888" "70" "221" "0" "221" "0" "c.221T>C" "r.(?)" "p.(Leu74Ser)" "" "0000944798" "00000888" "70" "1121" "0" "1121" "0" "c.1121C>G" "r.(?)" "p.(Pro374Arg)" "" "0000944799" "00000888" "50" "2374" "0" "2374" "0" "c.2374C>T" "r.(?)" "p.(Arg792Cys)" "" "0000944800" "00000888" "50" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Glu210Lys)" "" "0000944801" "00000888" "50" "931" "0" "931" "0" "c.931C>G" "r.(?)" "p.(Pro311Ala)" "" "0000944802" "00000888" "50" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Arg484Gln)" "" "0000944803" "00000888" "30" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Val201Ile)" "" "0000944804" "00000888" "30" "1665" "0" "1665" "0" "c.1665G>C" "r.(?)" "p.(Glu555Asp)" "" "0000944805" "00000888" "50" "26" "0" "26" "0" "c.26G>T" "r.(?)" "p.(Ser9Ile)" "" "0000944806" "00000888" "50" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.(Gly15Glu)" "" "0000946892" "00000888" "90" "789" "0" "789" "0" "c.789T>A" "r.(?)" "p.(Cys263*)" "" "0000951692" "00000888" "50" "2155" "0" "2155" "0" "c.2155A>G" "r.(?)" "p.(Ser719Gly)" "" "0000984494" "00000888" "50" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.(Gly15Glu)" "" "0001006482" "00000888" "50" "2132" "0" "2132" "0" "c.2132A>G" "r.(?)" "p.(Tyr711Cys)" "" "0001007085" "00000888" "50" "1375" "0" "1375" "0" "c.1375A>G" "r.(?)" "p.(Ile459Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002187" "0000000209" "0000003281" "0000000209" "0000003282" "0000000209" "0000003283" "0000000209" "0000007800" "0000000210" "0000009954" "0000000210" "0000009955" "0000000210" "0000009956" "0000000210" "0000009957" "0000000210" "0000011268" "0000000210" "0000011269" "0000000210" "0000011270" "0000000210" "0000011271" "0000174243" "0000401290" "0000174244" "0000401291" "0000174245" "0000401292" "0000174246" "0000401293" "0000174545" "0000401294" "0000443353" "0000944763" "0000443379" "0000944792" "0000443380" "0000944793" "0000443381" "0000944794" "0000443382" "0000944795" "0000443383" "0000944796" "0000443384" "0000944797" "0000443385" "0000944798" "0000443386" "0000944799" "0000443387" "0000944800" "0000443388" "0000944801" "0000443389" "0000944802" "0000443390" "0000944803" "0000443391" "0000944804" "0000443392" "0000944805" "0000443393" "0000944806" "0000444954" "0000946892"