### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NHS) # 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}}" "NHS" "Nance-Horan syndrome (congenital cataracts and dental anomalies)" "X" "p22.3-p21.1" "unknown" "NG_011553.2" "UD_145626742787" "" "https://www.LOVD.nl/NHS" "" "1" "7820" "4810" "300457" "1" "1" "1" "1" "This 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/NHS_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2017-06-30 10:08:58" "03840" "2021-10-12 17:41:46" ## 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}}" "00000295" "NHS" "transcript variant 1" "001" "NM_198270.2" "" "NP_938011.1" "" "" "" "-338" "8423" "4893" "17393543" "17754114" "00000" "2012-09-13 12:04:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "2016-10-22 17:54:40" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-24 17:14:32" "02217" "CTRCT-40" "cataract, type 40 (CTRCT-40)" "" "302200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:59:30" "02218" "NHS" "syndrome, Nance-Horan (NHS)" "" "302350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-06-30 10:05:41" "04214" "retinal disease" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00006" "2020-08-25 10:54:40" "05165" "CCTRCT" "cataract, congenital (CCTRCT)" "" "" "" "" "" "00006" "2016-05-15 20:37:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "NHS" "00139" "NHS" "02217" "NHS" "02218" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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" "" "" "" "" "00065055" "" "" "" "3" "" "00006" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "has affected maternal great grandmother, maternal cousins" "M" "no" "" "" "0" "" "" "" "" "00106135" "" "" "" "1" "" "02128" "" "" "M" "no" "(Belgium)" "" "0" "" "" "" "" "00173116" "" "" "" "3" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173117" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173118" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173119" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173120" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173121" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173122" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173123" "" "" "" "9" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173124" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00183167" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 1 unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "25644381-FamT149" "00294999" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302949" "" "" "" "1" "" "00006" "{PMID:Fieremans 2016:27159028}" "" "F" "" "" "" "0" "" "" "" "Pat5" "00305287" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00324493" "" "" "" "1" "" "01164" "" "" "M" "?" "Saudi Arabia" "" "0" "" "" "" "173214" "00336008" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 181 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00374788" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1100" "00380473" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP86" "00384308" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13587" "00385465" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14022259" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00065055" "05165" "00106135" "02218" "00173116" "00187" "00173117" "00187" "00173118" "00187" "00173119" "00187" "00173120" "00187" "00173121" "00187" "00173122" "00187" "00173123" "00187" "00173124" "00187" "00183167" "00187" "00294999" "00198" "00302949" "00139" "00305287" "00198" "00324493" "02218" "00336008" "00296" "00374788" "00198" "00380473" "00198" "00384308" "04214" "00385465" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00296, 01157, 02217, 02218, 04214, 05165 ## Count = 21 "{{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" "" "" "" "" "" "" "" "" "" "0000051192" "05165" "00065055" "00006" "Familial, autosomal recessive" "" "L: dense nuclear cataract; R: nuclear cataract, lamellar, posterior polar; L: hypoplastic iris, nystagmus; severe mental retardation" "" "" "" "" "" "" "" "" "" "" "" "" "0000083941" "02218" "00106135" "02128" "Familial, X-linked" "" "congenital diaphragmatic hernia (HP:0000776 ), congenital cataract (HP:0000519)" "" "" "" "" "" "" "" "" "" "" "" "" "0000137980" "00187" "00173116" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137981" "00187" "00173117" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137982" "00187" "00173118" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137983" "00187" "00173119" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137984" "00187" "00173120" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137985" "00187" "00173121" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137986" "00187" "00173122" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137987" "00187" "00173123" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137988" "00187" "00173124" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000143921" "00187" "00183167" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000230033" "00139" "00302949" "00006" "Isolated (sporadic)" "" "see paper; ..., mild intellectual disability, autism spectrum disorder, congenital cataract microphthalmia, abnormal teeth" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000243036" "02218" "00324493" "01164" "Unknown" "" "(+) Abnormality of the lens,(+) Cataract / Cataracta congenita, no family history of cataract" "" "" "" "" "" "" "" "" "" "" "" "" "0000253923" "00296" "00336008" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "childhood cataract" "" "0000269998" "00198" "00374788" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, ataxia, autism spectrum disorder" "" "0000274325" "00198" "00380473" "00000" "Familial, autosomal dominant" "3y" "" "" "" "" "" "" "" "" "" "" "Cataract 40" "" "" "0000278093" "04214" "00384308" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathy?" "" "0000279260" "04214" "00385465" "00000" "Isolated (sporadic)" "" "" "<1y" "" "" "" "" "" "" "" "" "bilateral paediatric cataract" "congenital cataracts" "" ## 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}}" "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" "" "" "0000065197" "00065055" "1" "00006" "00006" "2016-05-15 22:17:13" "00006" "2016-05-15 23:03:33" "SEQ;SEQ-NG" "DNA" "" "" "0000106606" "00106135" "1" "02128" "02128" "2017-06-29 10:26:06" "" "" "SEQ-NG" "DNA" "" "" "0000173999" "00173116" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174000" "00173117" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174001" "00173118" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174002" "00173119" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174003" "00173120" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174004" "00173121" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174005" "00173122" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174006" "00173123" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174007" "00173124" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000184125" "00183167" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000296167" "00294999" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304074" "00302949" "1" "00006" "00006" "2020-06-05 09:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000306416" "00305287" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000325684" "00324493" "1" "01164" "01164" "2020-12-15 10:09:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000337238" "00336008" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000375982" "00374788" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000381686" "00380473" "1" "00000" "03840" "2021-08-18 14:23:07" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000385533" "00384308" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000386694" "00385465" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "114 genes panel tested" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000065197" "NHS" "0000106606" "NHS" "0000173999" "NHS" "0000174000" "NHS" "0000174001" "NHS" "0000174002" "NHS" "0000174003" "NRK" "0000174004" "NRK" "0000174005" "NRK" "0000174006" "NRK" "0000174007" "NRK" "0000184125" "NHS" "0000304074" "NHS" "0000325684" "NHS" "0000337238" "NHS" "0000375982" "NHS" "0000381686" "NHS" "0000385533" "NHS" "0000386694" "NHS" ## 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 = 140 "{{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}}" "0000001813" "20" "50" "X" "17705852" "17705852" "dup" "0" "00037" "NHS_000013" "g.17705852dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.17687732dup" "" "VUS" "" "0000002819" "20" "50" "X" "17705852" "17705852" "dup" "0" "00037" "NHS_000011" "g.17705852dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.17687732dup" "" "VUS" "" "0000002820" "0" "50" "X" "17710353" "17710353" "del" "0" "00037" "NHS_000010" "g.17710353del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.17692233del" "" "VUS" "" "0000006439" "20" "50" "X" "17612497" "17612497" "subst" "0" "00037" "NHS_000015" "g.17612497G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.17594376G>A" "" "VUS" "" "0000006440" "20" "50" "X" "17753436" "17753436" "subst" "0" "00037" "NHS_000014" "g.17753436A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.17735316=" "" "VUS" "" "0000008493" "20" "50" "X" "17612497" "17612497" "subst" "0" "00037" "NHS_000015" "g.17612497G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.17594376G>A" "" "VUS" "" "0000008494" "20" "50" "X" "17705852" "17705852" "dup" "0" "00037" "NHS_000013" "g.17705852dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.17687732dup" "" "VUS" "" "0000008495" "20" "50" "X" "17753436" "17753436" "subst" "0" "00037" "NHS_000014" "g.17753436A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.17735316=" "" "VUS" "" "0000010824" "20" "50" "X" "17705852" "17705852" "dup" "0" "00037" "NHS_000011" "g.17705852dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.17687732dup" "" "VUS" "" "0000096853" "3" "90" "X" "17745308" "17745308" "subst" "0" "00006" "NHS_000012" "g.17745308C>T" "" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "" "" "" "Germline" "" "" "0" "" "" "g.17727188C>T" "" "pathogenic" "" "0000172293" "21" "70" "X" "17746172" "17746172" "subst" "0" "02128" "NHS_000016" "g.17746172C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17728052C>T" "" "likely pathogenic" "" "0000253672" "0" "10" "X" "17743944" "17743944" "subst" "0" "01943" "NHS_000036" "g.17743944A>C" "" "" "" "NHS(NM_001291867.1):c.1718A>C (p.Q573P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17725824A>C" "" "benign" "" "0000296473" "0" "30" "X" "17743697" "17743697" "subst" "0.0000335942" "02325" "NHS_000032" "g.17743697G>A" "" "" "" "NHS(NM_001291867.2):c.1471G>A (p.D491N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17725577G>A" "" "likely benign" "" "0000296474" "0" "10" "X" "17705852" "17705852" "dup" "0" "02325" "NHS_000013" "g.17705852dup" "" "" "" "NHS(NM_198270.4):c.566-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17687732dup" "" "benign" "" "0000296475" "0" "50" "X" "17710475" "17710475" "subst" "0.0000839175" "02325" "NHS_000030" "g.17710475C>T" "" "" "" "NHS(NM_001291867.1):c.739C>T (p.R247C), NHS(NM_001291867.2):c.739C>T (p.R247C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17692355C>T" "" "VUS" "" "0000300043" "0" "10" "X" "17743940" "17743940" "subst" "0.0248186" "02326" "NHS_000035" "g.17743940C>T" "" "" "" "NHS(NM_001136024.2):c.1183C>T (p.(Pro395Ser)), NHS(NM_198270.4):c.1651C>T (p.P551S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17725820C>T" "" "benign" "" "0000300044" "0" "30" "X" "17750565" "17750565" "subst" "0.000145516" "02326" "NHS_000056" "g.17750565C>T" "" "" "" "NHS(NM_001291867.1):c.4937C>T (p.S1646F), NHS(NM_001291867.2):c.4937C>T (p.S1646F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17732445C>T" "" "likely benign" "" "0000300045" "0" "30" "X" "17705857" "17705857" "subst" "0.000117534" "02326" "NHS_000027" "g.17705857T>C" "" "" "" "NHS(NM_001136024.2):c.35-5T>C (p.?), NHS(NM_001291867.2):c.566-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17687737T>C" "" "likely benign" "" "0000304117" "0" "30" "X" "17742485" "17742485" "subst" "0.0000503511" "01943" "NHS_000031" "g.17742485G>A" "" "" "" "NHS(NM_001291867.1):c.1175G>A (p.R392Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17724365G>A" "" "likely benign" "" "0000304118" "0" "30" "X" "17653697" "17653697" "subst" "0.00445821" "01943" "NHS_000025" "g.17653697C>T" "" "" "" "NHS(NM_001136024.2):c.11C>T (p.(Ala4Val)), NHS(NM_001136024.3):c.11C>T (p.A4V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17635577C>T" "" "likely benign" "" "0000304119" "0" "30" "X" "17743792" "17743792" "subst" "0.0000447831" "01943" "NHS_000033" "g.17743792C>T" "" "" "" "NHS(NM_001291867.1):c.1566C>T (p.G522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17725672C>T" "" "likely benign" "" "0000304120" "0" "50" "X" "17394056" "17394056" "subst" "0" "01943" "NHS_000017" "g.17394056G>A" "" "" "" "NHS(NM_001291867.1):c.176G>A (p.R59H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17375933G>A" "" "VUS" "" "0000304121" "0" "30" "X" "17394057" "17394057" "subst" "0" "01943" "NHS_000018" "g.17394057C>A" "" "" "" "NHS(NM_001291867.1):c.177C>A (p.R59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17375934C>A" "" "likely benign" "" "0000304122" "0" "50" "X" "17744151" "17744151" "subst" "0.00000560601" "01943" "NHS_000037" "g.17744151C>A" "" "" "" "NHS(NM_001291867.1):c.1925C>A (p.P642H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17726031C>A" "" "VUS" "" "0000304123" "0" "50" "X" "17744294" "17744294" "subst" "0.0000223903" "01943" "NHS_000038" "g.17744294C>T" "" "" "" "NHS(NM_001291867.1):c.2068C>T (p.H690Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17726174C>T" "" "VUS" "" "0000304124" "0" "30" "X" "17394091" "17394091" "subst" "0.00285811" "01943" "NHS_000019" "g.17394091C>T" "" "" "" "NHS(NM_001291867.1):c.211C>T (p.P71S), NHS(NM_198270.2):c.211C>T (p.(Pro71Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17375968C>T" "" "likely benign" "" "0000304125" "0" "30" "X" "17744819" "17744819" "subst" "0.00115314" "01943" "NHS_000041" "g.17744819G>A" "" "" "" "NHS(NM_001136024.2):c.2062G>A (p.(Ala688Thr)), NHS(NM_001291867.1):c.2593G>A (p.A865T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17726699G>A" "" "likely benign" "" "0000304126" "0" "30" "X" "17744988" "17744988" "subst" "0.000123123" "01943" "NHS_000042" "g.17744988G>A" "" "" "" "NHS(NM_001291867.1):c.2762G>A (p.G921D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17726868G>A" "" "likely benign" "" "0000304127" "0" "30" "X" "17745367" "17745367" "subst" "0.000033592" "01943" "NHS_000044" "g.17745367C>T" "" "" "" "NHS(NM_001291867.1):c.3141C>T (p.P1047=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17727247C>T" "" "likely benign" "" "0000304128" "0" "10" "X" "17745441" "17745441" "subst" "0.000784468" "01943" "NHS_000045" "g.17745441C>T" "" "" "" "NHS(NM_001291867.1):c.3215C>T (p.T1072I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17727321C>T" "" "benign" "" "0000304129" "0" "30" "X" "17745634" "17745634" "subst" "0.0000447996" "01943" "NHS_000046" "g.17745634G>A" "" "" "" "NHS(NM_001291867.1):c.3408G>A (p.T1136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17727514G>A" "" "likely benign" "" "0000304130" "0" "10" "X" "17746155" "17746155" "subst" "0.000661213" "01943" "NHS_000048" "g.17746155G>T" "" "" "" "NHS(NM_001136024.2):c.3398G>T (p.(Gly1133Val)), NHS(NM_001291867.1):c.3929G>T (p.G1310V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17728035G>T" "" "benign" "" "0000304131" "0" "10" "X" "17750294" "17750294" "subst" "0.00180785" "01943" "NHS_000053" "g.17750294T>A" "" "" "" "NHS(NM_001291867.1):c.4666T>A (p.S1556T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17732174T>A" "" "benign" "" "0000304132" "0" "30" "X" "17394393" "17394393" "subst" "0.000548315" "01943" "NHS_000023" "g.17394393C>T" "" "" "" "NHS(NM_001291867.1):c.513C>T (p.L171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17376270C>T" "" "likely benign" "" "0000304133" "0" "50" "X" "17394426" "17394426" "subst" "0.0000109978" "01943" "NHS_000024" "g.17394426C>G" "" "" "" "NHS(NM_001291867.1):c.546C>G (p.D182E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17376303C>G" "" "VUS" "" "0000304134" "0" "30" "X" "17705984" "17705984" "subst" "0.000224762" "01943" "NHS_000029" "g.17705984G>A" "" "" "" "NHS(NM_001291867.1):c.688G>A (p.A230T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17687864G>A" "" "likely benign" "" "0000333286" "0" "30" "X" "17394091" "17394091" "subst" "0.00285811" "01804" "NHS_000019" "g.17394091C>T" "" "" "" "NHS(NM_001291867.1):c.211C>T (p.P71S), NHS(NM_198270.2):c.211C>T (p.(Pro71Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17375968C>T" "" "likely benign" "" "0000333288" "0" "50" "X" "17394190" "17394225" "del" "0" "01804" "NHS_000021" "g.17394190_17394225del" "" "" "" "NHS(NM_001291867.1):c.310_345del (p.P104_A115del), NHS(NM_001291867.2):c.310_345del (p.P104_A115del), NHS(NM_198270.2):c.303_338del (p.(Ala103_Al...))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17376067_17376102del" "" "VUS" "" "0000333291" "0" "30" "X" "17653697" "17653697" "subst" "0.00445821" "01804" "NHS_000025" "g.17653697C>T" "" "" "" "NHS(NM_001136024.2):c.11C>T (p.(Ala4Val)), NHS(NM_001136024.3):c.11C>T (p.A4V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17635577C>T" "" "likely benign" "" "0000333292" "0" "50" "X" "17653705" "17653705" "subst" "0" "01804" "NHS_000026" "g.17653705A>T" "" "" "" "NHS(NM_001136024.2):c.19A>T (p.(Met7Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17635585A>T" "" "VUS" "" "0000333293" "0" "50" "X" "17705864" "17705864" "subst" "0.0000111913" "01804" "NHS_000028" "g.17705864G>A" "" "" "" "NHS(NM_001136024.2):c.37G>A (p.(Val13Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17687744G>A" "" "VUS" "" "0000333297" "0" "50" "X" "17744523" "17744523" "subst" "0.000022456" "01804" "NHS_000040" "g.17744523C>T" "" "" "" "NHS(NM_001136024.2):c.1766C>T (p.(Ser589Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17726403C>T" "" "VUS" "" "0000333299" "0" "50" "X" "17744819" "17744819" "subst" "0.00115314" "01804" "NHS_000041" "g.17744819G>A" "" "" "" "NHS(NM_001136024.2):c.2062G>A (p.(Ala688Thr)), NHS(NM_001291867.1):c.2593G>A (p.A865T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17726699G>A" "" "VUS" "" "0000333300" "0" "50" "X" "17745057" "17745057" "subst" "0.00907666" "01804" "NHS_000043" "g.17745057A>T" "" "" "" "NHS(NM_001136024.2):c.2300A>T (p.(His767Leu)), NHS(NM_001291867.1):c.2831A>T (p.H944L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17726937A>T" "" "VUS" "" "0000333301" "0" "50" "X" "17746011" "17746011" "subst" "0.000151097" "01804" "NHS_000047" "g.17746011C>T" "" "" "" "NHS(NM_001136024.2):c.3254C>T (p.(Thr1085Met)), NHS(NM_001291867.1):c.3785C>T (p.T1262M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17727891C>T" "" "VUS" "" "0000333302" "0" "30" "X" "17746155" "17746155" "subst" "0.000661213" "01804" "NHS_000048" "g.17746155G>T" "" "" "" "NHS(NM_001136024.2):c.3398G>T (p.(Gly1133Val)), NHS(NM_001291867.1):c.3929G>T (p.G1310V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17728035G>T" "" "likely benign" "" "0000333304" "0" "50" "X" "17746313" "17746313" "subst" "0" "01804" "NHS_000051" "g.17746313A>G" "" "" "" "NHS(NM_001136024.2):c.3556A>G (p.(Ile1186Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17728193A>G" "" "VUS" "" "0000333305" "0" "50" "X" "17750274" "17750274" "subst" "0" "01804" "NHS_000052" "g.17750274C>A" "" "" "" "NHS(NM_001136024.2):c.4115C>A (p.(Pro1372His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17732154C>A" "" "VUS" "" "0000333307" "0" "50" "X" "17750367" "17750367" "subst" "0.00000559309" "01804" "NHS_000054" "g.17750367C>A" "" "" "" "NHS(NM_001136024.2):c.4208C>A (p.(Ser1403Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17732247C>A" "" "VUS" "" "0000333308" "0" "50" "X" "17750499" "17750499" "subst" "0.0000223811" "01804" "NHS_000055" "g.17750499C>T" "" "" "" "NHS(NM_001136024.2):c.4340C>T (p.(Thr1447Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17732379C>T" "" "VUS" "" "0000342762" "0" "90" "X" "17742490" "17742490" "subst" "0" "02327" "NHS_000061" "g.17742490C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17724370C>T" "" "pathogenic" "" "0000343448" "0" "90" "X" "17744924" "17744924" "subst" "0" "02327" "NHS_000062" "g.17744924C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17726804C>T" "" "pathogenic" "" "0000345015" "0" "90" "X" "17745185" "17745185" "subst" "0" "02327" "NHS_000064" "g.17745185C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17727065C>T" "" "pathogenic" "" "0000346018" "0" "90" "X" "17739752" "17739752" "del" "0" "02327" "NHS_000060" "g.17739752del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17721632del" "" "pathogenic" "" "0000347346" "0" "50" "X" "17745078" "17745078" "subst" "0" "02327" "NHS_000063" "g.17745078T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17726958T>G" "" "VUS" "" "0000348410" "0" "50" "X" "17393986" "17393986" "subst" "0" "02327" "NHS_000057" "g.17393986C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17375863C>T" "" "VUS" "" "0000350739" "0" "90" "X" "17739559" "17739559" "subst" "0" "02327" "NHS_000059" "g.17739559A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17721439A>G" "" "pathogenic" "" "0000394316" "1" "50" "X" "17743940" "17743940" "subst" "0.0248186" "00124" "NHS_000035" "g.17743940C>T" "3/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 3 times" "Germline" "" "" "0" "" "" "g.17725820C>T" "" "VUS" "" "0000394317" "1" "50" "X" "17744556" "17744556" "subst" "0.000768665" "00124" "NHS_000067" "g.17744556T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.17726436T>C" "" "VUS" "" "0000394318" "1" "30" "X" "17744707" "17744707" "subst" "0.00012314" "00124" "NHS_000068" "g.17744707G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "Q806Q" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.17726587G>A" "" "likely benign" "" "0000394319" "1" "50" "X" "17744819" "17744819" "subst" "0.00115314" "00124" "NHS_000041" "g.17744819G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.17726699G>A" "" "VUS" "" "0000394320" "1" "30" "X" "17745427" "17745427" "subst" "0.00833506" "00124" "NHS_000069" "g.17745427T>C" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S1046S" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.17727307T>C" "" "likely benign" "" "0000394321" "1" "30" "X" "17745430" "17745430" "subst" "0.00834141" "00124" "NHS_000070" "g.17745430A>G" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L1047L" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.17727310A>G" "" "likely benign" "" "0000394322" "1" "50" "X" "17746155" "17746155" "subst" "0.000661213" "00124" "NHS_000048" "g.17746155G>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.17728035G>T" "" "VUS" "" "0000394323" "1" "50" "X" "17746244" "17746244" "subst" "0.165271" "00124" "NHS_000071" "g.17746244T>C" "9/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 9 times" "Germline" "" "" "0" "" "" "g.17728124T>C" "" "VUS" "" "0000394324" "1" "30" "X" "17710501" "17710501" "subst" "0.000788688" "00124" "NHS_000066" "g.17710501C>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P255P" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.17692381C>G" "" "likely benign" "" "0000408094" "21" "70" "X" "17743739" "17743739" "subst" "0.00000559873" "00006" "NHS_000072" "g.17743739C>T" "" "{PMID:Hu 2016:25644381}" "" "NHS R484W" "" "Germline" "yes" "" "0" "" "" "g.17725619C>T" "" "likely pathogenic" "" "0000575092" "0" "10" "X" "17394190" "17394225" "del" "0" "01943" "NHS_000021" "g.17394190_17394225del" "" "" "" "NHS(NM_001291867.1):c.310_345del (p.P104_A115del), NHS(NM_001291867.2):c.310_345del (p.P104_A115del), NHS(NM_198270.2):c.303_338del (p.(Ala103_Al...))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17376067_17376102del" "" "benign" "" "0000575095" "0" "30" "X" "17394452" "17394452" "subst" "0" "02325" "NHS_000076" "g.17394452A>C" "" "" "" "NHS(NM_198270.4):c.565+7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17376329A>C" "" "likely benign" "" "0000575096" "0" "30" "X" "17705857" "17705857" "subst" "0.000117534" "01804" "NHS_000027" "g.17705857T>C" "" "" "" "NHS(NM_001136024.2):c.35-5T>C (p.?), NHS(NM_001291867.2):c.566-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17687737T>C" "" "likely benign" "" "0000575097" "0" "90" "X" "17705905" "17705905" "subst" "0" "02327" "NHS_000077" "g.17705905C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17687785C>A" "" "pathogenic" "" "0000575098" "0" "30" "X" "17705979" "17705979" "subst" "0" "01804" "NHS_000078" "g.17705979G>A" "" "" "" "NHS(NM_001136024.2):c.152G>A (p.(Arg51His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17687859G>A" "" "likely benign" "" "0000575099" "0" "50" "X" "17710578" "17710578" "subst" "0.0000223849" "01943" "NHS_000079" "g.17710578A>G" "" "" "" "NHS(NM_001291867.1):c.842A>G (p.H281R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17692458A>G" "" "VUS" "" "0000575100" "0" "30" "X" "17743544" "17743544" "subst" "0.0000111993" "01943" "NHS_000080" "g.17743544A>G" "" "" "" "NHS(NM_001291867.1):c.1318A>G (p.R440G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17725424A>G" "" "likely benign" "" "0000575101" "0" "50" "X" "17743544" "17743544" "subst" "0.0000111993" "02327" "NHS_000080" "g.17743544A>G" "" "" "" "NHS(NM_001291867.1):c.1318A>G (p.R440G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17725424A>G" "" "VUS" "" "0000575103" "0" "30" "X" "17743940" "17743940" "subst" "0.0248186" "01804" "NHS_000035" "g.17743940C>T" "" "" "" "NHS(NM_001136024.2):c.1183C>T (p.(Pro395Ser)), NHS(NM_198270.4):c.1651C>T (p.P551S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17725820C>T" "" "likely benign" "" "0000575105" "0" "30" "X" "17744556" "17744556" "subst" "0.000768665" "01943" "NHS_000067" "g.17744556T>C" "" "" "" "NHS(NM_001136024.2):c.1799T>C (p.(Phe600Ser)), NHS(NM_001291867.1):c.2330T>C (p.F777S), NHS(NM_001291867.2):c.2330T>C (p.F777S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17726436T>C" "" "likely benign" "" "0000575106" "0" "30" "X" "17744556" "17744556" "subst" "0.000768665" "01804" "NHS_000067" "g.17744556T>C" "" "" "" "NHS(NM_001136024.2):c.1799T>C (p.(Phe600Ser)), NHS(NM_001291867.1):c.2330T>C (p.F777S), NHS(NM_001291867.2):c.2330T>C (p.F777S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17726436T>C" "" "likely benign" "" "0000575107" "0" "30" "X" "17744556" "17744556" "subst" "0.000768665" "02325" "NHS_000067" "g.17744556T>C" "" "" "" "NHS(NM_001136024.2):c.1799T>C (p.(Phe600Ser)), NHS(NM_001291867.1):c.2330T>C (p.F777S), NHS(NM_001291867.2):c.2330T>C (p.F777S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17726436T>C" "" "likely benign" "" "0000575108" "0" "50" "X" "17744889" "17744889" "subst" "0.0000335879" "02325" "NHS_000081" "g.17744889T>C" "" "" "" "NHS(NM_001291867.1):c.2663T>C (p.M888T), NHS(NM_001291867.2):c.2663T>C (p.M888T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17726769T>C" "" "VUS" "" "0000575109" "0" "50" "X" "17744946" "17744946" "subst" "0.000022393" "01943" "NHS_000082" "g.17744946C>T" "" "" "" "NHS(NM_001291867.1):c.2720C>T (p.P907L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17726826C>T" "" "VUS" "" "0000575110" "0" "30" "X" "17745017" "17745017" "subst" "0.000117531" "01943" "NHS_000083" "g.17745017G>T" "" "" "" "NHS(NM_001291867.1):c.2791G>T (p.D931Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17726897G>T" "" "likely benign" "" "0000575111" "0" "10" "X" "17745057" "17745057" "subst" "0.00907666" "01943" "NHS_000043" "g.17745057A>T" "" "" "" "NHS(NM_001136024.2):c.2300A>T (p.(His767Leu)), NHS(NM_001291867.1):c.2831A>T (p.H944L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17726937A>T" "" "benign" "" "0000575112" "0" "50" "X" "17745542" "17745542" "subst" "0" "01943" "NHS_000084" "g.17745542C>T" "" "" "" "NHS(NM_001291867.1):c.3316C>T (p.H1106Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17727422C>T" "" "VUS" "" "0000575113" "0" "30" "X" "17745600" "17745600" "subst" "0.000313627" "01943" "NHS_000085" "g.17745600C>T" "" "" "" "NHS(NM_001291867.1):c.3374C>T (p.S1125L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17727480C>T" "" "likely benign" "" "0000575114" "0" "50" "X" "17745624" "17745624" "subst" "0.00000559845" "01804" "NHS_000086" "g.17745624T>C" "" "" "" "NHS(NM_001136024.2):c.2867T>C (p.(Ile956Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17727504T>C" "" "VUS" "" "0000575115" "0" "50" "X" "17745741" "17745741" "subst" "0.000039388" "01943" "NHS_000087" "g.17745741C>T" "" "" "" "NHS(NM_001291867.1):c.3515C>T (p.T1172M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17727621C>T" "" "VUS" "" "0000575116" "0" "30" "X" "17746011" "17746011" "subst" "0.000151097" "01943" "NHS_000047" "g.17746011C>T" "" "" "" "NHS(NM_001136024.2):c.3254C>T (p.(Thr1085Met)), NHS(NM_001291867.1):c.3785C>T (p.T1262M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17727891C>T" "" "likely benign" "" "0000575117" "0" "30" "X" "17746067" "17746067" "subst" "0.0000279792" "01804" "NHS_000088" "g.17746067C>T" "" "" "" "NHS(NM_001136024.2):c.3310C>T (p.(Arg1104Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17727947C>T" "" "likely benign" "" "0000575119" "0" "90" "X" "17746102" "17746102" "subst" "0" "02327" "NHS_000090" "g.17746102T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17727982T>G" "" "pathogenic" "" "0000575120" "0" "30" "X" "17746277" "17746277" "subst" "0.000442307" "01943" "NHS_000050" "g.17746277G>A" "" "" "" "NHS(NM_001291867.1):c.4051G>A (p.D1351N), NHS(NM_001291867.2):c.4051G>A (p.D1351N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17728157G>A" "" "likely benign" "" "0000575121" "0" "50" "X" "17746347" "17746347" "subst" "0" "02325" "NHS_000091" "g.17746347C>G" "" "" "" "NHS(NM_001291867.2):c.4121C>G (p.S1374C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17728227C>G" "" "VUS" "" "0000575122" "0" "30" "X" "17750294" "17750294" "subst" "0.00180785" "02327" "NHS_000053" "g.17750294T>A" "" "" "" "NHS(NM_001291867.1):c.4666T>A (p.S1556T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17732174T>A" "" "likely benign" "" "0000575123" "0" "30" "X" "17750565" "17750565" "subst" "0.000145516" "01943" "NHS_000056" "g.17750565C>T" "" "" "" "NHS(NM_001291867.1):c.4937C>T (p.S1646F), NHS(NM_001291867.2):c.4937C>T (p.S1646F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17732445C>T" "" "likely benign" "" "0000619362" "0" "30" "X" "17394096" "17394098" "del" "0" "01804" "NHS_000092" "g.17394096_17394098del" "" "" "" "NHS(NM_198270.2):c.205_207del (p.(Pro73del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17375973_17375975del" "" "likely benign" "" "0000619363" "0" "10" "X" "17394190" "17394225" "del" "0" "02325" "NHS_000021" "g.17394190_17394225del" "" "" "" "NHS(NM_001291867.1):c.310_345del (p.P104_A115del), NHS(NM_001291867.2):c.310_345del (p.P104_A115del), NHS(NM_198270.2):c.303_338del (p.(Ala103_Al...))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17376067_17376102del" "" "benign" "" "0000619364" "0" "50" "X" "17394228" "17394230" "del" "0" "01943" "NHS_000093" "g.17394228_17394230del" "" "" "" "NHS(NM_001291867.1):c.348_350delGGC (p.A117del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17376105_17376107del" "" "VUS" "" "0000619365" "0" "30" "X" "17710475" "17710475" "subst" "0.0000839175" "01943" "NHS_000030" "g.17710475C>T" "" "" "" "NHS(NM_001291867.1):c.739C>T (p.R247C), NHS(NM_001291867.2):c.739C>T (p.R247C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17692355C>T" "" "likely benign" "" "0000619366" "0" "30" "X" "17743597" "17743597" "subst" "0.0000167819" "01943" "NHS_000094" "g.17743597T>C" "" "" "" "NHS(NM_001291867.1):c.1371T>C (p.A457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17725477T>C" "" "likely benign" "" "0000619367" "0" "30" "X" "17743822" "17743822" "subst" "0.000459304" "01943" "NHS_000095" "g.17743822G>A" "" "" "" "NHS(NM_001291867.1):c.1596G>A (p.E532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17725702G>A" "" "likely benign" "" "0000619368" "0" "30" "X" "17745613" "17745613" "subst" "0" "01943" "NHS_000098" "g.17745613G>A" "" "" "" "NHS(NM_001291867.1):c.3387G>A (p.P1129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17727493G>A" "" "likely benign" "" "0000619369" "0" "50" "X" "17750027" "17750027" "subst" "0" "02327" "NHS_000099" "g.17750027C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17731907C>T" "" "VUS" "" "0000619370" "0" "50" "X" "17750061" "17750062" "del" "0" "01943" "NHS_000100" "g.17750061_17750062del" "" "" "" "NHS(NM_001291867.1):c.4433_4434delGC (p.S1478Kfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17731941_17731942del" "" "VUS" "" "0000624536" "0" "30" "X" "17744398" "17744398" "subst" "0.0000168086" "01943" "NHS_000096" "g.17744398T>A" "" "" "" "NHS(NM_001291867.1):c.2172T>A (p.N724K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17726278T>A" "" "likely benign" "" "0000624537" "0" "30" "X" "17744503" "17744503" "subst" "0.00000561649" "01943" "NHS_000097" "g.17744503T>C" "" "" "" "NHS(NM_001291867.1):c.2277T>C (p.Y759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17726383T>C" "" "likely benign" "" "0000624538" "0" "50" "X" "17750064" "17750064" "del" "0" "01943" "NHS_000101" "g.17750064del" "" "" "" "NHS(NM_001291867.1):c.4436delG (p.S1479Tfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17731944del" "" "VUS" "" "0000652856" "1" "10" "X" "17743940" "17743940" "subst" "0.0248186" "03575" "NHS_000035" "g.17743940C>T" "13/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous; {DB:CLININrs150688899}" "Germline" "" "rs150688899" "0" "" "" "g.17725820C>T" "" "benign" "" "0000659230" "0" "30" "X" "17710588" "17710588" "subst" "0.0000111961" "01804" "NHS_000102" "g.17710588G>A" "" "" "" "NHS(NM_001136024.2):c.321G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17692468G>A" "" "likely benign" "" "0000667472" "0" "90" "X" "17705990" "17705990" "subst" "0" "00006" "NHS_000103" "g.17705990C>T" "" "{PMID:Fieremans 2016:27159028}" "" "NM_001136024.3:c.163C>T" "" "De novo" "" "" "0" "skewed X-inactivation (5:95 pat:mat)" "" "g.17687870C>T" "" "pathogenic" "" "0000670104" "0" "10" "X" "17743940" "17743940" "subst" "0.0248186" "03575" "NHS_000035" "g.17743940C>T" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs150688899}" "Germline" "" "rs150688899" "0" "" "" "g.17725820C>T" "" "benign" "" "0000682311" "0" "30" "X" "17710564" "17710564" "subst" "0.000414035" "01943" "NHS_000104" "g.17710564G>A" "" "" "" "NHS(NM_001291867.1):c.828G>A (p.E276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682312" "0" "30" "X" "17743973" "17743973" "subst" "0.0000897716" "01943" "NHS_000105" "g.17743973C>T" "" "" "" "NHS(NM_001291867.1):c.1747C>T (p.R583C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682313" "0" "30" "X" "17744935" "17744935" "subst" "0.0000391931" "01943" "NHS_000106" "g.17744935C>T" "" "" "" "NHS(NM_001291867.1):c.2709C>T (p.N903=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682314" "0" "30" "X" "17745758" "17745758" "subst" "0.0000112461" "01943" "NHS_000107" "g.17745758A>G" "" "" "" "NHS(NM_001291867.1):c.3532A>G (p.S1178G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682315" "0" "50" "X" "17746221" "17746221" "subst" "0.00000560252" "01943" "NHS_000049" "g.17746221G>A" "" "" "" "NHS(NM_001291867.1):c.3995G>A (p.R1332K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682316" "0" "50" "X" "17750056" "17750058" "dup" "0" "01943" "NHS_000108" "g.17750056_17750058dup" "" "" "" "NHS(NM_001291867.1):c.4428_4430dupTAG (p.S1480dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682317" "0" "50" "X" "17750088" "17750088" "subst" "0" "01943" "NHS_000109" "g.17750088C>T" "" "" "" "NHS(NM_001291867.1):c.4460C>T (p.P1487L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693503" "0" "50" "X" "17744889" "17744889" "subst" "0.0000335879" "01943" "NHS_000081" "g.17744889T>C" "" "" "" "NHS(NM_001291867.1):c.2663T>C (p.M888T), NHS(NM_001291867.2):c.2663T>C (p.M888T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693504" "0" "30" "X" "17745406" "17745406" "subst" "0.0000223914" "01943" "NHS_000110" "g.17745406A>G" "" "" "" "NHS(NM_001291867.1):c.3180A>G (p.K1060=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693505" "0" "30" "X" "17750064" "17750064" "subst" "0.000106395" "01943" "NHS_000111" "g.17750064G>A" "" "" "" "NHS(NM_001291867.1):c.4436G>A (p.S1479N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000708820" "20" "90" "X" "17710502" "17710502" "dup" "0" "01164" "NHS_000112" "g.17710502dup" "" "" "" "" "ACMG: PVS1, PM2: class 4" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000728720" "0" "50" "X" "17394032" "17394032" "subst" "0.000156901" "01943" "NHS_000113" "g.17394032C>T" "" "" "" "NHS(NM_001291867.1):c.152C>T (p.A51V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728721" "0" "50" "X" "17394070" "17394070" "subst" "0.000020014" "01943" "NHS_000114" "g.17394070C>T" "" "" "" "NHS(NM_001291867.1):c.190C>T (p.P64S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728722" "0" "50" "X" "17653720" "17653720" "subst" "0" "01943" "NHS_000115" "g.17653720G>A" "" "" "" "NHS(NM_001136024.3):c.34G>A (p.A12T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728723" "0" "90" "X" "17705959" "17705959" "del" "0" "02329" "NHS_000116" "g.17705959del" "" "" "" "NHS(NM_001291867.2):c.663delC (p.C222Afs*62)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728724" "0" "30" "X" "17710501" "17710501" "subst" "0.000788688" "01943" "NHS_000066" "g.17710501C>G" "" "" "" "NHS(NM_001291867.1):c.765C>G (p.P255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728725" "0" "30" "X" "17739759" "17739759" "subst" "0.00000577427" "01943" "NHS_000117" "g.17739759G>A" "" "" "" "NHS(NM_001291867.1):c.1108+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728726" "0" "50" "X" "17744061" "17744061" "subst" "0.0000336231" "01943" "NHS_000118" "g.17744061C>T" "" "" "" "NHS(NM_001291867.1):c.1835C>T (p.T612M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728727" "0" "30" "X" "17744914" "17744914" "subst" "0.000039194" "01943" "NHS_000119" "g.17744914C>T" "" "" "" "NHS(NM_001291867.1):c.2688C>T (p.N896=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728728" "0" "50" "X" "17746277" "17746277" "subst" "0.000442307" "02329" "NHS_000050" "g.17746277G>A" "" "" "" "NHS(NM_001291867.1):c.4051G>A (p.D1351N), NHS(NM_001291867.2):c.4051G>A (p.D1351N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000736868" "1" "50" "X" "17394096" "17394098" "del" "0" "00000" "NHS_000092" "g.17394096_17394098del" "1/181 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "rs10590816" "0" "" "" "g.17375973_17375975del" "" "VUS" "" "0000787333" "0" "50" "X" "17743727" "17743727" "subst" "0.000190378" "00006" "NHS_000120" "g.17743727C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs770144581" "0" "" "" "g.17725607C>T" "" "VUS" "" "0000795181" "0" "70" "X" "17739693" "17739693" "subst" "0" "00000" "NHS_000121" "g.17739693G>T" "186" "{PMID:Sun 2018:30076350}" "" "NHS(NM_198270.2):c.985G>T(p.E329*)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.17721573G>T" "" "likely pathogenic" "" "0000810197" "0" "30" "X" "17394233" "17394233" "subst" "0" "01943" "NHS_000122" "g.17394233T>C" "" "" "" "NHS(NM_001291867.1):c.353T>C (p.V118A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810199" "0" "50" "X" "17742519" "17742519" "subst" "0.0000167853" "01943" "NHS_000123" "g.17742519G>A" "" "" "" "NHS(NM_001291867.1):c.1209G>A (p.S403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810200" "0" "50" "X" "17743697" "17743697" "subst" "0.0000335942" "02327" "NHS_000032" "g.17743697G>A" "" "" "" "NHS(NM_001291867.2):c.1471G>A (p.D491N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810201" "0" "30" "X" "17743849" "17743849" "subst" "0" "01943" "NHS_000124" "g.17743849C>T" "" "" "" "NHS(NM_001291867.1):c.1623C>T (p.T541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810202" "0" "50" "X" "17744345" "17744345" "subst" "0.000335728" "01943" "NHS_000125" "g.17744345G>T" "" "" "" "NHS(NM_001291867.1):c.2119G>T (p.A707S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000812611" "21" "70" "X" "17744345" "17744345" "subst" "0.000335728" "00000" "NHS_000125" "g.17744345G>T" "" "{PMID:Wang 2019:31106028}" "" "c.2056G>T, p.(Ala686Ser)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.17726225G>T" "" "likely pathogenic" "" "0000814374" "20" "90" "X" "17745416" "17745416" "subst" "" "00000" "NHS_000126" "g.17745416C>T" "" "{PMID:Lenassi 2020:31848469}" "" "NHS c.3127C>T p.(Gln1043Ter) hemi [de novo]" "hemizygous" "De novo" "?" "" "0" "" "" "g.17727296C>T" "" "pathogenic" "ACMG" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes NHS ## Count = 140 "{{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}}" "0000001813" "00000295" "50" "566" "-10" "566" "-10" "c.566-10dup" "r.(=)" "p.(=)" "1i" "0000002819" "00000295" "50" "566" "-10" "566" "-10" "c.566-10dup" "r.(=)" "p.(=)" "1i" "0000002820" "00000295" "50" "719" "-102" "719" "-102" "c.719-102del" "r.(=)" "p.(=)" "2i" "0000006439" "00000295" "50" "566" "-93365" "566" "-93365" "c.566-93365G>A" "r.(=)" "p.(=)" "1i" "0000006440" "00000295" "50" "7745" "0" "7745" "0" "c.*2852A>T" "r.(=)" "p.(=)" "8" "0000008493" "00000295" "50" "566" "-93365" "566" "-93365" "c.566-93365G>A" "r.(=)" "p.(=)" "1i" "0000008494" "00000295" "50" "566" "-10" "566" "-10" "c.566-10dup" "r.(=)" "p.(=)" "1i" "0000008495" "00000295" "50" "7745" "0" "7745" "0" "c.*2852A>T" "r.(=)" "p.(=)" "8" "0000010824" "00000295" "50" "566" "-10" "566" "-10" "c.566-10dup" "r.(=)" "p.(=)" "1i" "0000096853" "00000295" "90" "3019" "0" "3019" "0" "c.3019C>T" "r.(?)" "p.(Gln1007*)" "" "0000172293" "00000295" "70" "3883" "0" "3883" "0" "c.3883C>T" "r.(?)" "p.(Gln1295*)" "6" "0000253672" "00000295" "10" "1655" "0" "1655" "0" "c.1655A>C" "r.(?)" "p.(Gln552Pro)" "" "0000296473" "00000295" "30" "1408" "0" "1408" "0" "c.1408G>A" "r.(?)" "p.(Asp470Asn)" "" "0000296474" "00000295" "10" "566" "-10" "566" "-10" "c.566-10dup" "r.(=)" "p.(=)" "" "0000296475" "00000295" "50" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Cys)" "" "0000300043" "00000295" "10" "1651" "0" "1651" "0" "c.1651C>T" "r.(?)" "p.(Pro551Ser)" "" "0000300044" "00000295" "30" "4874" "0" "4874" "0" "c.4874C>T" "r.(?)" "p.(Ser1625Phe)" "" "0000300045" "00000295" "30" "566" "-5" "566" "-5" "c.566-5T>C" "r.spl?" "p.?" "" "0000304117" "00000295" "30" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371Gln)" "" "0000304118" "00000295" "30" "566" "-52165" "566" "-52165" "c.566-52165C>T" "r.(=)" "p.(=)" "" "0000304119" "00000295" "30" "1503" "0" "1503" "0" "c.1503C>T" "r.(?)" "p.(Gly501=)" "" "0000304120" "00000295" "50" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Arg59His)" "" "0000304121" "00000295" "30" "177" "0" "177" "0" "c.177C>A" "r.(?)" "p.(Arg59=)" "" "0000304122" "00000295" "50" "1862" "0" "1862" "0" "c.1862C>A" "r.(?)" "p.(Pro621His)" "" "0000304123" "00000295" "50" "2005" "0" "2005" "0" "c.2005C>T" "r.(?)" "p.(His669Tyr)" "" "0000304124" "00000295" "30" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Pro71Ser)" "" "0000304125" "00000295" "30" "2530" "0" "2530" "0" "c.2530G>A" "r.(?)" "p.(Ala844Thr)" "" "0000304126" "00000295" "30" "2699" "0" "2699" "0" "c.2699G>A" "r.(?)" "p.(Gly900Asp)" "" "0000304127" "00000295" "30" "3078" "0" "3078" "0" "c.3078C>T" "r.(?)" "p.(Pro1026=)" "" "0000304128" "00000295" "10" "3152" "0" "3152" "0" "c.3152C>T" "r.(?)" "p.(Thr1051Ile)" "" "0000304129" "00000295" "30" "3345" "0" "3345" "0" "c.3345G>A" "r.(?)" "p.(Thr1115=)" "" "0000304130" "00000295" "10" "3866" "0" "3866" "0" "c.3866G>T" "r.(?)" "p.(Gly1289Val)" "" "0000304131" "00000295" "10" "4603" "0" "4603" "0" "c.4603T>A" "r.(?)" "p.(Ser1535Thr)" "" "0000304132" "00000295" "30" "513" "0" "513" "0" "c.513C>T" "r.(?)" "p.(Leu171=)" "" "0000304133" "00000295" "50" "546" "0" "546" "0" "c.546C>G" "r.(?)" "p.(Asp182Glu)" "" "0000304134" "00000295" "30" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Ala230Thr)" "" "0000333286" "00000295" "30" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Pro71Ser)" "" "0000333288" "00000295" "50" "310" "0" "345" "0" "c.310_345del" "r.(?)" "p.(Pro104_Ala115del)" "" "0000333291" "00000295" "30" "566" "-52165" "566" "-52165" "c.566-52165C>T" "r.(=)" "p.(=)" "" "0000333292" "00000295" "50" "566" "-52157" "566" "-52157" "c.566-52157A>T" "r.(=)" "p.(=)" "" "0000333293" "00000295" "50" "568" "0" "568" "0" "c.568G>A" "r.(?)" "p.(Val190Ile)" "" "0000333297" "00000295" "50" "2234" "0" "2234" "0" "c.2234C>T" "r.(?)" "p.(Ser745Phe)" "" "0000333299" "00000295" "50" "2530" "0" "2530" "0" "c.2530G>A" "r.(?)" "p.(Ala844Thr)" "" "0000333300" "00000295" "50" "2768" "0" "2768" "0" "c.2768A>T" "r.(?)" "p.(His923Leu)" "" "0000333301" "00000295" "50" "3722" "0" "3722" "0" "c.3722C>T" "r.(?)" "p.(Thr1241Met)" "" "0000333302" "00000295" "30" "3866" "0" "3866" "0" "c.3866G>T" "r.(?)" "p.(Gly1289Val)" "" "0000333304" "00000295" "50" "4024" "0" "4024" "0" "c.4024A>G" "r.(?)" "p.(Ile1342Val)" "" "0000333305" "00000295" "50" "4583" "0" "4583" "0" "c.4583C>A" "r.(?)" "p.(Pro1528His)" "" "0000333307" "00000295" "50" "4676" "0" "4676" "0" "c.4676C>A" "r.(?)" "p.(Ser1559Tyr)" "" "0000333308" "00000295" "50" "4808" "0" "4808" "0" "c.4808C>T" "r.(?)" "p.(Thr1603Met)" "" "0000342762" "00000295" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Ter)" "" "0000343448" "00000295" "90" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879Ter)" "" "0000345015" "00000295" "90" "2896" "0" "2896" "0" "c.2896C>T" "r.(?)" "p.(Gln966Ter)" "" "0000346018" "00000295" "90" "1044" "0" "1044" "0" "c.1044del" "r.(?)" "p.(Gly349GlufsTer27)" "" "0000347346" "00000295" "50" "2789" "0" "2789" "0" "c.2789T>G" "r.(?)" "p.(Leu930Arg)" "" "0000348410" "00000295" "50" "106" "0" "106" "0" "c.106C>T" "r.(?)" "p.(Pro36Ser)" "" "0000350739" "00000295" "90" "853" "-2" "853" "-2" "c.853-2A>G" "r.spl?" "p.?" "" "0000394316" "00000295" "50" "1651" "0" "1651" "0" "c.1651C>T" "r.(?)" "p.(Pro551Ser)" "" "0000394317" "00000295" "50" "2267" "0" "2267" "0" "c.2267T>C" "r.(?)" "p.(Phe756Ser)" "" "0000394318" "00000295" "30" "2418" "0" "2418" "0" "c.2418G>A" "r.(=)" "p.(=)" "" "0000394319" "00000295" "50" "2530" "0" "2530" "0" "c.2530G>A" "r.(?)" "p.(Ala844Thr)" "" "0000394320" "00000295" "30" "3138" "0" "3138" "0" "c.3138T>C" "r.(=)" "p.(=)" "" "0000394321" "00000295" "30" "3141" "0" "3141" "0" "c.3141A>G" "r.(=)" "p.(=)" "" "0000394322" "00000295" "50" "3866" "0" "3866" "0" "c.3866G>T" "r.(?)" "p.(Gly1289Val)" "" "0000394323" "00000295" "50" "3955" "0" "3955" "0" "c.3955T>C" "r.(?)" "p.(Phe1319Leu)" "" "0000394324" "00000295" "30" "765" "0" "765" "0" "c.765C>G" "r.(=)" "p.(=)" "" "0000408094" "00000295" "00" "1450" "0" "1450" "0" "c.1450C>T" "r.(?)" "p.(Arg484Trp)" "" "0000575092" "00000295" "10" "310" "0" "345" "0" "c.310_345del" "r.(?)" "p.(Pro104_Ala115del)" "" "0000575095" "00000295" "30" "565" "7" "565" "7" "c.565+7A>C" "r.(=)" "p.(=)" "" "0000575096" "00000295" "30" "566" "-5" "566" "-5" "c.566-5T>C" "r.spl?" "p.?" "" "0000575097" "00000295" "90" "609" "0" "609" "0" "c.609C>A" "r.(?)" "p.(Tyr203Ter)" "" "0000575098" "00000295" "30" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Arg228His)" "" "0000575099" "00000295" "50" "842" "0" "842" "0" "c.842A>G" "r.(?)" "p.(His281Arg)" "" "0000575100" "00000295" "30" "1255" "0" "1255" "0" "c.1255A>G" "r.(?)" "p.(Arg419Gly)" "" "0000575101" "00000295" "50" "1255" "0" "1255" "0" "c.1255A>G" "r.(?)" "p.(Arg419Gly)" "" "0000575103" "00000295" "30" "1651" "0" "1651" "0" "c.1651C>T" "r.(?)" "p.(Pro551Ser)" "" "0000575105" "00000295" "30" "2267" "0" "2267" "0" "c.2267T>C" "r.(?)" "p.(Phe756Ser)" "" "0000575106" "00000295" "30" "2267" "0" "2267" "0" "c.2267T>C" "r.(?)" "p.(Phe756Ser)" "" "0000575107" "00000295" "30" "2267" "0" "2267" "0" "c.2267T>C" "r.(?)" "p.(Phe756Ser)" "" "0000575108" "00000295" "50" "2600" "0" "2600" "0" "c.2600T>C" "r.(?)" "p.(Met867Thr)" "" "0000575109" "00000295" "50" "2657" "0" "2657" "0" "c.2657C>T" "r.(?)" "p.(Pro886Leu)" "" "0000575110" "00000295" "30" "2728" "0" "2728" "0" "c.2728G>T" "r.(?)" "p.(Asp910Tyr)" "" "0000575111" "00000295" "10" "2768" "0" "2768" "0" "c.2768A>T" "r.(?)" "p.(His923Leu)" "" "0000575112" "00000295" "50" "3253" "0" "3253" "0" "c.3253C>T" "r.(?)" "p.(His1085Tyr)" "" "0000575113" "00000295" "30" "3311" "0" "3311" "0" "c.3311C>T" "r.(?)" "p.(Ser1104Leu)" "" "0000575114" "00000295" "50" "3335" "0" "3335" "0" "c.3335T>C" "r.(?)" "p.(Ile1112Thr)" "" "0000575115" "00000295" "50" "3452" "0" "3452" "0" "c.3452C>T" "r.(?)" "p.(Thr1151Met)" "" "0000575116" "00000295" "30" "3722" "0" "3722" "0" "c.3722C>T" "r.(?)" "p.(Thr1241Met)" "" "0000575117" "00000295" "30" "3778" "0" "3778" "0" "c.3778C>T" "r.(?)" "p.(Arg1260Cys)" "" "0000575119" "00000295" "90" "3813" "0" "3813" "0" "c.3813T>G" "r.(?)" "p.(Tyr1271Ter)" "" "0000575120" "00000295" "30" "3988" "0" "3988" "0" "c.3988G>A" "r.(?)" "p.(Asp1330Asn)" "" "0000575121" "00000295" "50" "4058" "0" "4058" "0" "c.4058C>G" "r.(?)" "p.(Ser1353Cys)" "" "0000575122" "00000295" "30" "4603" "0" "4603" "0" "c.4603T>A" "r.(?)" "p.(Ser1535Thr)" "" "0000575123" "00000295" "30" "4874" "0" "4874" "0" "c.4874C>T" "r.(?)" "p.(Ser1625Phe)" "" "0000619362" "00000295" "30" "216" "0" "218" "0" "c.216_218del" "r.(?)" "p.(Pro73del)" "" "0000619363" "00000295" "10" "310" "0" "345" "0" "c.310_345del" "r.(?)" "p.(Pro104_Ala115del)" "" "0000619364" "00000295" "50" "348" "0" "350" "0" "c.348_350del" "r.(?)" "p.(Ala117del)" "" "0000619365" "00000295" "30" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Cys)" "" "0000619366" "00000295" "30" "1308" "0" "1308" "0" "c.1308T>C" "r.(?)" "p.(Ala436=)" "" "0000619367" "00000295" "30" "1533" "0" "1533" "0" "c.1533G>A" "r.(?)" "p.(Glu511=)" "" "0000619368" "00000295" "30" "3324" "0" "3324" "0" "c.3324G>A" "r.(?)" "p.(Pro1108=)" "" "0000619369" "00000295" "50" "4336" "0" "4336" "0" "c.4336C>T" "r.(?)" "p.(Arg1446Ter)" "" "0000619370" "00000295" "50" "4370" "0" "4371" "0" "c.4370_4371del" "r.(?)" "p.(Ser1457LysfsTer12)" "" "0000624536" "00000295" "30" "2109" "0" "2109" "0" "c.2109T>A" "r.(?)" "p.(Asn703Lys)" "" "0000624537" "00000295" "30" "2214" "0" "2214" "0" "c.2214T>C" "r.(?)" "p.(Tyr738=)" "" "0000624538" "00000295" "50" "4373" "0" "4373" "0" "c.4373del" "r.(?)" "p.(Ser1458ThrfsTer13)" "" "0000652856" "00000295" "10" "1651" "0" "1651" "0" "c.1651C>T" "r.(?)" "p.(Pro551Ser)" "" "0000659230" "00000295" "30" "852" "0" "852" "0" "c.852G>A" "r.(?)" "p.(Thr284=)" "" "0000667472" "00000295" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Gln232*)" "" "0000670104" "00000295" "10" "1651" "0" "1651" "0" "c.1651C>T" "r.(?)" "p.(Pro551Ser)" "" "0000682311" "00000295" "30" "828" "0" "828" "0" "c.828G>A" "r.(?)" "p.(Glu276=)" "" "0000682312" "00000295" "30" "1684" "0" "1684" "0" "c.1684C>T" "r.(?)" "p.(Arg562Cys)" "" "0000682313" "00000295" "30" "2646" "0" "2646" "0" "c.2646C>T" "r.(?)" "p.(Asn882=)" "" "0000682314" "00000295" "30" "3469" "0" "3469" "0" "c.3469A>G" "r.(?)" "p.(Ser1157Gly)" "" "0000682315" "00000295" "50" "3932" "0" "3932" "0" "c.3932G>A" "r.(?)" "p.(Arg1311Lys)" "" "0000682316" "00000295" "50" "4365" "0" "4367" "0" "c.4365_4367dup" "r.(?)" "p.(Ser1459dup)" "" "0000682317" "00000295" "50" "4397" "0" "4397" "0" "c.4397C>T" "r.(?)" "p.(Pro1466Leu)" "" "0000693503" "00000295" "50" "2600" "0" "2600" "0" "c.2600T>C" "r.(?)" "p.(Met867Thr)" "" "0000693504" "00000295" "30" "3117" "0" "3117" "0" "c.3117A>G" "r.(?)" "p.(Lys1039=)" "" "0000693505" "00000295" "30" "4373" "0" "4373" "0" "c.4373G>A" "r.(?)" "p.(Ser1458Asn)" "" "0000708820" "00000295" "90" "766" "0" "766" "0" "c.766dup" "r.(?)" "p.(Leu256Profs*21)" "3" "0000728720" "00000295" "50" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Ala51Val)" "" "0000728721" "00000295" "50" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Pro64Ser)" "" "0000728722" "00000295" "50" "566" "-52142" "566" "-52142" "c.566-52142G>A" "r.(=)" "p.(=)" "" "0000728723" "00000295" "90" "663" "0" "663" "0" "c.663del" "r.(?)" "p.(Cys222Alafs*62)" "" "0000728724" "00000295" "30" "765" "0" "765" "0" "c.765C>G" "r.(?)" "p.(Pro255=)" "" "0000728725" "00000295" "30" "1045" "6" "1045" "6" "c.1045+6G>A" "r.(=)" "p.(=)" "" "0000728726" "00000295" "50" "1772" "0" "1772" "0" "c.1772C>T" "r.(?)" "p.(Thr591Met)" "" "0000728727" "00000295" "30" "2625" "0" "2625" "0" "c.2625C>T" "r.(?)" "p.(Asn875=)" "" "0000728728" "00000295" "50" "3988" "0" "3988" "0" "c.3988G>A" "r.(?)" "p.(Asp1330Asn)" "" "0000736868" "00000295" "50" "216" "0" "218" "0" "c.216_218del" "r.(?)" "p.(Pro73del)" "" "0000787333" "00000295" "50" "1438" "0" "1438" "0" "c.1438C>T" "r.(?)" "p.(Arg480Cys)" "6" "0000795181" "00000295" "70" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Glu329*)" "" "0000810197" "00000295" "30" "353" "0" "353" "0" "c.353T>C" "r.(?)" "p.(Val118Ala)" "" "0000810199" "00000295" "50" "1146" "0" "1146" "0" "c.1146G>A" "r.(?)" "p.(Ser382=)" "" "0000810200" "00000295" "50" "1408" "0" "1408" "0" "c.1408G>A" "r.(?)" "p.(Asp470Asn)" "" "0000810201" "00000295" "30" "1560" "0" "1560" "0" "c.1560C>T" "r.(?)" "p.(Thr520=)" "" "0000810202" "00000295" "50" "2056" "0" "2056" "0" "c.2056G>T" "r.(?)" "p.(Ala686Ser)" "" "0000812611" "00000295" "70" "2056" "0" "2056" "0" "c.2056G>T" "r.(?)" "p.(Ala686Ser)" "" "0000814374" "00000295" "90" "3127" "0" "3127" "0" "c.3127C>T" "r.(?)" "p.(Gln1043Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001813" "0000000209" "0000002819" "0000000209" "0000002820" "0000000209" "0000006439" "0000000209" "0000006440" "0000000210" "0000008493" "0000000210" "0000008494" "0000000210" "0000008495" "0000000210" "0000010824" "0000065197" "0000096853" "0000106606" "0000172293" "0000173999" "0000394316" "0000174000" "0000394317" "0000174001" "0000394318" "0000174002" "0000394319" "0000174003" "0000394320" "0000174004" "0000394321" "0000174005" "0000394322" "0000174006" "0000394323" "0000174007" "0000394324" "0000184125" "0000408094" "0000296167" "0000652856" "0000304074" "0000667472" "0000306416" "0000670104" "0000325684" "0000708820" "0000337238" "0000736868" "0000375982" "0000787333" "0000381686" "0000795181" "0000385533" "0000812611" "0000386694" "0000814374"