### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HCFC1) # 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}}" "HCFC1" "host cell factor C1 (VP16-accessory protein)" "X" "q28" "unknown" "NG_012513.1" "UD_132118642638" "" "https://www.LOVD.nl/HCFC1" "" "1" "4839" "3054" "300019" "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/HCFC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2020-04-22 08:46:10" "00000" "2025-07-08 13:22:38" ## 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}}" "00000415" "HCFC1" "host cell factor C1 (VP16-accessory protein)" "001" "NM_005334.2" "" "NP_005325.2" "" "" "" "-528" "7898" "6108" "153213008" "153236819" "00000" "2012-09-13 12:12:55" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "01130" "MRX3" "mental retardation, X-linked, type 3 (MRX3)" "XLR" "309541" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HCFC1" "00139" "HCFC1" "01130" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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" "" "" "" "" "00050498" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected and affected2nd degree relatives" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00172606" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172607" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172608" "" "" "" "29" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172609" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00183104" "" "" "" "4" "" "00006" "{PMID:Hu 2016:25644381}" "family, 4 affected, 2 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamD144" "00183137" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 1 unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "25644381-FamAU29" "00296774" "" "" "" "2" "" "00006" "{PMID:Redin 2014:25167861}" "analysis 106 patients; 2-generation family, 2 affected brothers, unaffected carrier mother" "M" "" "France" "" "0" "" "" "" "APN-113" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00050498" "00198" "00172606" "00187" "00172607" "00187" "00172608" "00187" "00172609" "00187" "00183104" "00187" "00183137" "00187" "00296774" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 01130, 01157 ## Count = 10 "{{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}}" "0000037110" "00198" "00050498" "00006" "Unknown" "" "intellectual disability, specific learning disability, low posterior hairline, frontal upsweep of hair, clinodactyly of the 5th finger, second toe clinodactyly" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000137470" "00187" "00172606" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137471" "00187" "00172607" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137472" "00187" "00172608" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137473" "00187" "00172609" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000143858" "00187" "00183104" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000143891" "00187" "00183137" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000224173" "00139" "00296774" "00006" "Familial, X-linked" "" "severe intellectual disability, no dysmorphic traits, no urogenital abnormalities, no Heinz bodies" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{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" "" "" "0000050443" "00050498" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000173489" "00172606" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000173490" "00172607" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000173491" "00172608" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000173492" "00172609" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000184062" "00183104" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184095" "00183137" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000297884" "00296774" "1" "00006" "00006" "2020-04-13 12:27:32" "" "" "SEQ;SEQ-NG" "DNA" "" "229-gene ID panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000050443" "HCFC1" "0000173489" "HCFC1" "0000173490" "MAGEA3" "0000173491" "MAGEA3" "0000173492" "MAGEA3" "0000184062" "HCFC1" "0000184095" "MECP2" "0000297884" "ATRX" "0000297884" "HCFC1" ## 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 = 179 "{{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}}" "0000008045" "20" "50" "X" "153215839" "153215839" "subst" "0.426538" "00037" "HCFC1_000001" "g.153215839G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153950388G>A" "" "VUS" "" "0000008046" "20" "50" "X" "153219426" "153219426" "subst" "0" "00037" "HCFC1_000004" "g.153219426G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153953975G>A" "" "VUS" "" "0000010223" "20" "50" "X" "153215839" "153215839" "subst" "0.426538" "00037" "HCFC1_000001" "g.153215839G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153950388G>A" "" "VUS" "" "0000010224" "20" "50" "X" "153219426" "153219426" "subst" "0" "00037" "HCFC1_000004" "g.153219426G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153953975G>A" "" "VUS" "" "0000079423" "21" "90" "X" "153222373" "153222373" "subst" "0" "00006" "HCFC1_000005" "g.153222373G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.153956922G>A" "" "pathogenic" "" "0000248893" "0" "10" "X" "153220360" "153220360" "subst" "0.386896" "02325" "HCFC1_000024" "g.153220360A>G" "" "" "" "HCFC1(NM_005334.3):c.3490T>C (p.S1164P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153954909A>G" "" "benign" "" "0000255171" "0" "30" "X" "153225497" "153225497" "subst" "5.08702E-5" "01943" "HCFC1_000034" "g.153225497A>G" "" "" "" "HCFC1(NM_005334.2):c.1200T>C (p.Y400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153960046A>G" "" "likely benign" "" "0000281235" "0" "10" "X" "153222835" "153222835" "subst" "0.29861" "02325" "HCFC1_000033" "g.153222835G>C" "" "" "" "HCFC1(NM_005334.3):c.2283C>G (p.T761=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153957384G>C" "" "benign" "" "0000281236" "0" "30" "X" "153222121" "153222121" "subst" "0.000717031" "02325" "HCFC1_000032" "g.153222121C>T" "" "" "" "HCFC1(NM_005334.2):c.2590G>A (p.A864T), HCFC1(NM_005334.3):c.2590G>A (p.A864T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153956670C>T" "" "likely benign" "" "0000281237" "0" "10" "X" "153221657" "153221657" "subst" "0.373556" "02325" "HCFC1_000029" "g.153221657T>C" "" "" "" "HCFC1(NM_005334.3):c.2841A>G (p.P947=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153956206T>C" "" "benign" "" "0000281238" "0" "10" "X" "153219665" "153219665" "subst" "0.32547" "02325" "HCFC1_000016" "g.153219665C>T" "" "" "" "HCFC1(NM_005334.3):c.4185G>A (p.A1395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153954214C>T" "" "benign" "" "0000281239" "0" "10" "X" "153218365" "153218365" "subst" "0.321199" "02325" "HCFC1_000013" "g.153218365C>A" "" "" "" "HCFC1(NM_005334.3):c.4542G>T (p.L1514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153952914C>A" "" "benign" "" "0000281240" "0" "30" "X" "153216900" "153216900" "subst" "0.000755469" "02325" "HCFC1_000008" "g.153216900C>T" "" "" "" "HCFC1(NM_005334.2):c.5418G>A (p.M1806I), HCFC1(NM_005334.3):c.5418G>A (p.M1806I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153951449C>T" "" "likely benign" "" "0000281241" "0" "10" "X" "153215839" "153215839" "subst" "0.426538" "02325" "HCFC1_000001" "g.153215839G>A" "" "" "" "HCFC1(NM_005334.3):c.5859C>T (p.C1953=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153950388G>A" "" "benign" "" "0000281242" "0" "10" "X" "153227770" "153227770" "subst" "0.325882" "02325" "HCFC1_000035" "g.153227770G>A" "" "" "" "HCFC1(NM_005334.3):c.713-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153962319G>A" "" "benign" "" "0000285067" "0" "10" "X" "153220978" "153220978" "subst" "0.00112647" "02326" "HCFC1_000028" "g.153220978T>C" "" "" "" "HCFC1(NM_005334.2):c.2872A>G (p.T958A, p.(Thr958Ala)), HCFC1(NM_005334.3):c.2872A>G (p.T958A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153955527T>C" "" "benign" "" "0000285068" "0" "30" "X" "153220580" "153220580" "subst" "2.26077E-5" "02326" "HCFC1_000027" "g.153220580G>A" "" "" "" "HCFC1(NM_005334.3):c.3270C>T (p.T1090=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153955129G>A" "" "likely benign" "" "0000285069" "0" "30" "X" "153220235" "153220235" "subst" "0.00111276" "02326" "HCFC1_000023" "g.153220235G>A" "" "" "" "HCFC1(NM_005334.3):c.3615C>T (p.S1205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153954784G>A" "" "likely benign" "" "0000285070" "0" "30" "X" "153215740" "153215740" "subst" "0.000844706" "02326" "HCFC1_000006" "g.153215740G>A" "" "" "" "HCFC1(NM_005334.3):c.5958C>T (p.R1986=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153950289G>A" "" "likely benign" "" "0000288962" "0" "30" "X" "153236166" "153236166" "subst" "0" "01943" "HCFC1_000037" "g.153236166C>T" "" "" "" "HCFC1(NM_005334.2):c.126G>A (p.K42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153970715C>T" "" "likely benign" "" "0000288963" "0" "10" "X" "153222121" "153222121" "subst" "0.000717031" "01943" "HCFC1_000032" "g.153222121C>T" "" "" "" "HCFC1(NM_005334.2):c.2590G>A (p.A864T), HCFC1(NM_005334.3):c.2590G>A (p.A864T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153956670C>T" "" "benign" "" "0000288964" "0" "30" "X" "153221711" "153221711" "subst" "0.00137102" "01943" "HCFC1_000031" "g.153221711G>A" "" "" "" "HCFC1(NM_005334.2):c.2787C>T (p.I929=), HCFC1(NM_005334.3):c.2787C>T (p.I929=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153956260G>A" "" "likely benign" "" "0000288965" "0" "10" "X" "153220978" "153220978" "subst" "0.00112647" "01943" "HCFC1_000028" "g.153220978T>C" "" "" "" "HCFC1(NM_005334.2):c.2872A>G (p.T958A, p.(Thr958Ala)), HCFC1(NM_005334.3):c.2872A>G (p.T958A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153955527T>C" "" "benign" "" "0000288966" "0" "30" "X" "153220497" "153220497" "subst" "0" "01943" "HCFC1_000025" "g.153220497T>C" "" "" "" "HCFC1(NM_005334.2):c.3353A>G (p.N1118S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153955046T>C" "" "likely benign" "" "0000288967" "0" "10" "X" "153219782" "153219782" "subst" "0.00131101" "01943" "HCFC1_000018" "g.153219782G>A" "" "" "" "HCFC1(NM_005334.2):c.4068C>T (p.P1356=), HCFC1(NM_005334.3):c.4068C>T (p.P1356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153954331G>A" "" "benign" "" "0000288968" "0" "30" "X" "153219715" "153219715" "subst" "3.52481E-5" "01943" "HCFC1_000017" "g.153219715C>T" "" "" "" "HCFC1(NM_005334.2):c.4135G>A (p.D1379N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153954264C>T" "" "likely benign" "" "0000288969" "0" "50" "X" "153229639" "153229639" "subst" "0" "01943" "HCFC1_000036" "g.153229639T>C" "" "" "" "HCFC1(NM_005334.2):c.439A>G (p.N147D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153964188T>C" "" "VUS" "" "0000288970" "0" "10" "X" "153219113" "153219113" "subst" "0.00108315" "01943" "HCFC1_000014" "g.153219113G>A" "" "" "" "HCFC1(NM_005334.2):c.4442C>T (p.T1481M), HCFC1(NM_005334.3):c.4442C>T (p.T1481M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153953662G>A" "" "benign" "" "0000288971" "0" "30" "X" "153216921" "153216921" "subst" "0.000520781" "01943" "HCFC1_000009" "g.153216921G>T" "" "" "" "HCFC1(NM_005334.2):c.5397C>A (p.P1799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153951470G>T" "" "likely benign" "" "0000288972" "0" "30" "X" "153215947" "153215947" "subst" "7.13299E-5" "01943" "HCFC1_000007" "g.153215947G>A" "" "" "" "HCFC1(NM_005334.2):c.5751C>T (p.S1917=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153950496G>A" "" "likely benign" "" "0000336130" "0" "50" "X" "153219655" "153219655" "subst" "0.000374426" "01804" "HCFC1_000015" "g.153219655C>T" "" "" "" "HCFC1(NM_005334.2):c.4195G>A (p.(Val1399Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153954204C>T" "" "VUS" "" "0000336131" "0" "30" "X" "153219943" "153219943" "subst" "0" "01804" "HCFC1_000019" "g.153219943T>G" "" "" "" "HCFC1(NM_005334.2):c.3907A>C (p.(Asn1303His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153954492T>G" "" "likely benign" "" "0000336135" "0" "30" "X" "153220560" "153220560" "subst" "0.000395288" "01804" "HCFC1_000026" "g.153220560T>G" "" "" "" "HCFC1(NM_005334.2):c.3290A>C (p.N1097T, p.(Asn1097Thr)), HCFC1(NM_005334.3):c.3290A>C (p.N1097T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153955109T>G" "" "likely benign" "" "0000336136" "0" "30" "X" "153220978" "153220978" "subst" "0.00112647" "01804" "HCFC1_000028" "g.153220978T>C" "" "" "" "HCFC1(NM_005334.2):c.2872A>G (p.T958A, p.(Thr958Ala)), HCFC1(NM_005334.3):c.2872A>G (p.T958A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153955527T>C" "" "likely benign" "" "0000336137" "0" "50" "X" "153221701" "153221701" "subst" "0" "01804" "HCFC1_000030" "g.153221701C>T" "" "" "" "HCFC1(NM_005334.2):c.2797G>A (p.(Ala933Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153956250C>T" "" "VUS" "" "0000346929" "0" "30" "X" "153217992" "153217992" "subst" "0" "02327" "HCFC1_000038" "g.153217992G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153952541G>A" "" "likely benign" "" "0000393346" "1" "50" "X" "153223333" "153223333" "subst" "0" "00124" "HCFC1_000041" "g.153223333G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S678L" "found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators" "Germline" "" "" "0" "" "" "g.153957882G>A" "" "VUS" "" "0000393347" "1" "50" "X" "153222819" "153222819" "subst" "0" "00124" "HCFC1_000040" "g.153222819T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "2299G>A; A767T" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.153957368T>C" "" "VUS" "" "0000393348" "1" "50" "X" "153219956" "153219956" "subst" "0" "00124" "HCFC1_000039" "g.153219956C>T" "29/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A1298A" "recurrent, found 29 times" "Germline" "" "" "0" "" "" "g.153954505C>T" "" "VUS" "" "0000393349" "1" "50" "X" "153229658" "153229658" "subst" "5.69512E-6" "00124" "HCFC1_000042" "g.153229658G>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "T140T" "found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators" "Germline" "" "" "0" "" "" "g.153964207G>C" "" "VUS" "" "0000408031" "21" "90" "X" "153228714" "153228714" "subst" "0" "00006" "HCFC1_000043" "g.153228714C>T" "" "{PMID:Hu 2016:25644381}" "" "HCFC1 S225N" "" "Germline" "yes" "" "0" "" "" "g.153963263C>T" "" "pathogenic" "" "0000408064" "21" "90" "X" "152710806" "153609906" "dup" "0" "00006" "MECP2_002820" "g.152710806_153609906dup" "" "{PMID:Hu 2016:25644381}" "" "MECP2" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000574471" "0" "30" "X" "153208362" "153208362" "subst" "5.6262E-6" "01943" "HCFC1_000044" "g.153208362C>G" "" "" "" "RENBP(NM_002910.5):c.632G>C (p.G211A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153942910C>G" "" "likely benign" "" "0000574473" "0" "10" "X" "153209869" "153209869" "subst" "0.00107251" "02326" "HCFC1_000046" "g.153209869T>C" "" "" "" "RENBP(NM_002910.5):c.29A>G (p.(Asp10Gly)), RENBP(NM_002910.6):c.29A>G (p.D10G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153944417T>C" "" "benign" "" "0000574475" "0" "50" "X" "153214809" "153214809" "subst" "0" "01804" "HCFC1_000048" "g.153214809C>T" "" "" "" "HCFC1(NM_005334.2):c.6097G>A (p.(Asp2033Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153949358C>T" "" "VUS" "" "0000574476" "0" "30" "X" "153215079" "153215079" "subst" "0.00126689" "02326" "HCFC1_000049" "g.153215079G>A" "" "" "" "HCFC1(NM_005334.3):c.6005-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153949628G>A" "" "likely benign" "" "0000574477" "0" "50" "X" "153215741" "153215741" "subst" "0" "02327" "HCFC1_000050" "g.153215741C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153950290C>T" "" "VUS" "" "0000574478" "0" "50" "X" "153216819" "153216819" "subst" "0" "02327" "HCFC1_000051" "g.153216819A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153951368A>C" "" "VUS" "" "0000574479" "0" "30" "X" "153216900" "153216900" "subst" "0.000755469" "01943" "HCFC1_000008" "g.153216900C>T" "" "" "" "HCFC1(NM_005334.2):c.5418G>A (p.M1806I), HCFC1(NM_005334.3):c.5418G>A (p.M1806I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153951449C>T" "" "likely benign" "" "0000574480" "0" "30" "X" "153217119" "153217119" "subst" "1.13787E-5" "02327" "HCFC1_000052" "g.153217119A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153951668A>C" "" "likely benign" "" "0000574481" "0" "30" "X" "153217121" "153217121" "subst" "0.00066193" "02326" "HCFC1_000053" "g.153217121C>T" "" "" "" "HCFC1(NM_005334.2):c.5298G>A (p.P1766=), HCFC1(NM_005334.3):c.5298G>A (p.P1766=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153951670C>T" "" "likely benign" "" "0000574482" "0" "30" "X" "153217351" "153217351" "subst" "4.39089E-5" "01943" "HCFC1_000054" "g.153217351T>C" "" "" "" "HCFC1(NM_005334.2):c.5201A>G (p.N1734S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153951900T>C" "" "likely benign" "" "0000574483" "0" "30" "X" "153218166" "153218166" "subst" "2.856E-5" "01943" "HCFC1_000055" "g.153218166C>G" "" "" "" "HCFC1(NM_005334.2):c.4741G>C (p.E1581Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153952715C>G" "" "likely benign" "" "0000574484" "0" "30" "X" "153218182" "153218182" "subst" "0.00277614" "01943" "HCFC1_000056" "g.153218182G>A" "" "" "" "HCFC1(NM_005334.2):c.4725C>T (p.P1575=), HCFC1(NM_005334.3):c.4725C>T (p.P1575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153952731G>A" "" "likely benign" "" "0000574485" "0" "30" "X" "153218182" "153218182" "subst" "0.00277614" "02326" "HCFC1_000056" "g.153218182G>A" "" "" "" "HCFC1(NM_005334.2):c.4725C>T (p.P1575=), HCFC1(NM_005334.3):c.4725C>T (p.P1575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153952731G>A" "" "likely benign" "" "0000574486" "0" "50" "X" "153218309" "153218309" "subst" "0" "01943" "HCFC1_000012" "g.153218309T>C" "" "" "" "HCFC1(NM_005334.2):c.4598A>G (p.E1533G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153952858T>C" "" "VUS" "" "0000574487" "0" "30" "X" "153219113" "153219113" "subst" "0.00108315" "02326" "HCFC1_000014" "g.153219113G>A" "" "" "" "HCFC1(NM_005334.2):c.4442C>T (p.T1481M), HCFC1(NM_005334.3):c.4442C>T (p.T1481M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153953662G>A" "" "likely benign" "" "0000574488" "0" "30" "X" "153219118" "153219118" "subst" "3.38276E-5" "02326" "HCFC1_000057" "g.153219118T>C" "" "" "" "HCFC1(NM_005334.3):c.4437A>G (p.T1479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153953667T>C" "" "likely benign" "" "0000574489" "0" "50" "X" "153219643" "153219643" "subst" "0" "02327" "HCFC1_000058" "g.153219643C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153954192C>G" "" "VUS" "" "0000574490" "0" "30" "X" "153219656" "153219656" "subst" "3.97274E-5" "02326" "HCFC1_000059" "g.153219656G>A" "" "" "" "HCFC1(NM_005334.2):c.4194C>T (p.S1398=), HCFC1(NM_005334.3):c.4194C>T (p.S1398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153954205G>A" "" "likely benign" "" "0000574491" "0" "30" "X" "153219691" "153219691" "subst" "0.000298789" "01804" "HCFC1_000060" "g.153219691C>T" "" "" "" "HCFC1(NM_005334.2):c.4159G>A (p.V1387M, p.(Val1387Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153954240C>T" "" "likely benign" "" "0000574492" "0" "30" "X" "153219692" "153219692" "subst" "1.15384E-5" "01943" "HCFC1_000061" "g.153219692G>A" "" "" "" "HCFC1(NM_005334.2):c.4158C>T (p.T1386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153954241G>A" "" "likely benign" "" "0000574493" "0" "50" "X" "153219741" "153219741" "subst" "0" "02327" "HCFC1_000062" "g.153219741G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153954290G>A" "" "VUS" "" "0000574494" "0" "30" "X" "153219825" "153219825" "subst" "2.87208E-5" "02326" "HCFC1_000063" "g.153219825G>A" "" "" "" "HCFC1(NM_005334.2):c.4025C>T (p.T1342M), HCFC1(NM_005334.3):c.4025C>T (p.T1342M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153954374G>A" "" "likely benign" "" "0000574495" "0" "50" "X" "153219844" "153219844" "subst" "5.69385E-6" "02325" "HCFC1_000064" "g.153219844C>T" "" "" "" "HCFC1(NM_005334.3):c.4006G>A (p.A1336T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153954393C>T" "" "VUS" "" "0000574496" "0" "30" "X" "153220093" "153220093" "subst" "0.000164931" "01943" "HCFC1_000065" "g.153220093G>A" "" "" "" "HCFC1(NM_005334.2):c.3757C>T (p.R1253C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153954642G>A" "" "likely benign" "" "0000574498" "0" "50" "X" "153220206" "153220206" "subst" "0" "02327" "HCFC1_000022" "g.153220206C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153954755C>T" "" "VUS" "" "0000574499" "0" "10" "X" "153220358" "153220358" "subst" "0.00065193" "02326" "HCFC1_000066" "g.153220358G>A" "" "" "" "HCFC1(NM_005334.2):c.3492C>T (p.S1164=), HCFC1(NM_005334.3):c.3492C>T (p.S1164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153954907G>A" "" "benign" "" "0000574500" "0" "50" "X" "153220512" "153220512" "subst" "0" "01943" "HCFC1_000067" "g.153220512T>G" "" "" "" "HCFC1(NM_005334.2):c.3338A>C (p.E1113A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153955061T>G" "" "VUS" "" "0000574501" "0" "50" "X" "153220529" "153220615" "del" "0" "01804" "HCFC1_000068" "g.153220529_153220615del" "" "" "" "HCFC1(NM_005334.2):c.3270_3356del (p.(Ala1094_Thr1122del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153955078_153955164del" "" "VUS" "" "0000574502" "0" "50" "X" "153220558" "153220558" "subst" "1.12951E-5" "02327" "HCFC1_000069" "g.153220558T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153955107T>C" "" "VUS" "" "0000574503" "0" "30" "X" "153220560" "153220560" "subst" "0.000395288" "02326" "HCFC1_000026" "g.153220560T>G" "" "" "" "HCFC1(NM_005334.2):c.3290A>C (p.N1097T, p.(Asn1097Thr)), HCFC1(NM_005334.3):c.3290A>C (p.N1097T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153955109T>G" "" "likely benign" "" "0000574504" "0" "30" "X" "153221711" "153221711" "subst" "0.00137102" "02326" "HCFC1_000031" "g.153221711G>A" "" "" "" "HCFC1(NM_005334.2):c.2787C>T (p.I929=), HCFC1(NM_005334.3):c.2787C>T (p.I929=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153956260G>A" "" "likely benign" "" "0000574505" "0" "30" "X" "153222107" "153222107" "subst" "0.000106383" "02326" "HCFC1_000070" "g.153222107G>A" "" "" "" "HCFC1(NM_005334.3):c.2604C>T (p.A868=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153956656G>A" "" "likely benign" "" "0000574507" "0" "30" "X" "153222121" "153222121" "subst" "0.000717031" "02326" "HCFC1_000032" "g.153222121C>T" "" "" "" "HCFC1(NM_005334.2):c.2590G>A (p.A864T), HCFC1(NM_005334.3):c.2590G>A (p.A864T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153956670C>T" "" "likely benign" "" "0000574508" "0" "30" "X" "153222829" "153222829" "subst" "0.000277173" "02326" "HCFC1_000071" "g.153222829G>A" "" "" "" "HCFC1(NM_005334.2):c.2289C>T (p.P763=), HCFC1(NM_005334.3):c.2289C>T (p.P763=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153957378G>A" "" "likely benign" "" "0000574509" "0" "30" "X" "153223257" "153223257" "subst" "0.005745" "01943" "HCFC1_000072" "g.153223257C>T" "" "" "" "HCFC1(NM_005334.2):c.2109G>A (p.T703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153957806C>T" "" "likely benign" "" "0000574510" "0" "50" "X" "153223330" "153223330" "subst" "2.23994E-5" "02327" "HCFC1_000073" "g.153223330T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153957879T>C" "" "VUS" "" "0000574511" "0" "50" "X" "153223619" "153223619" "subst" "0" "01943" "HCFC1_000074" "g.153223619T>C" "" "" "" "HCFC1(NM_005334.2):c.1885A>G (p.T629A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153958168T>C" "" "VUS" "" "0000574512" "0" "50" "X" "153224207" "153224207" "subst" "0" "02327" "HCFC1_000075" "g.153224207C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153958756C>T" "" "VUS" "" "0000574513" "0" "30" "X" "153225290" "153225290" "subst" "5.12416E-5" "02326" "HCFC1_000076" "g.153225290G>A" "" "" "" "HCFC1(NM_005334.3):c.1407C>T (p.G469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153959839G>A" "" "likely benign" "" "0000574514" "0" "30" "X" "153225535" "153225535" "subst" "0" "01943" "HCFC1_000077" "g.153225535C>T" "" "" "" "HCFC1(NM_005334.2):c.1162G>A (p.A388T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153960084C>T" "" "likely benign" "" "0000574515" "0" "50" "X" "153225577" "153225577" "subst" "0" "02327" "HCFC1_000078" "g.153225577G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153960126G>A" "" "VUS" "" "0000574516" "0" "30" "X" "153227760" "153227760" "subst" "0" "02325" "HCFC1_000079" "g.153227760G>A" "" "" "" "HCFC1(NM_005334.2):c.713-3C>T, HCFC1(NM_005334.3):c.713-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153962309G>A" "" "likely benign" "" "0000574517" "0" "50" "X" "153229711" "153229711" "subst" "0" "01943" "HCFC1_000080" "g.153229711G>A" "" "" "" "HCFC1(NM_005334.2):c.367C>T (p.L123F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153964260G>A" "" "VUS" "" "0000619200" "0" "30" "X" "153209869" "153209869" "subst" "0.00107251" "01804" "HCFC1_000046" "g.153209869T>C" "" "" "" "RENBP(NM_002910.5):c.29A>G (p.(Asp10Gly)), RENBP(NM_002910.6):c.29A>G (p.D10G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153944417T>C" "" "likely benign" "" "0000619201" "0" "30" "X" "153214810" "153214810" "subst" "1.69086E-5" "01943" "HCFC1_000081" "g.153214810G>A" "" "" "" "HCFC1(NM_005334.2):c.6096C>T (p.A2032=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153949359G>A" "" "likely benign" "" "0000619202" "0" "30" "X" "153218271" "153218271" "subst" "0.000267322" "01804" "HCFC1_000082" "g.153218271C>T" "" "" "" "HCFC1(NM_005334.2):c.4636G>A (p.(Ala1546Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153952820C>T" "" "likely benign" "" "0000619203" "0" "50" "X" "153219958" "153219958" "subst" "2.24549E-5" "01943" "HCFC1_000083" "g.153219958C>T" "" "" "" "HCFC1(NM_005334.2):c.3892G>A (p.E1298K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153954507C>T" "" "VUS" "" "0000619204" "0" "30" "X" "153220075" "153220075" "subst" "3.48189E-5" "01943" "HCFC1_000084" "g.153220075C>T" "" "" "" "HCFC1(NM_005334.2):c.3775G>A (p.E1259K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153954624C>T" "" "likely benign" "" "0000619206" "0" "50" "X" "153222085" "153222085" "subst" "0.000369653" "01943" "HCFC1_000086" "g.153222085C>T" "" "" "" "HCFC1(NM_005334.2):c.2626G>A (p.G876S), HCFC1(NM_005334.3):c.2626G>A (p.G876S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153956634C>T" "" "VUS" "" "0000619207" "0" "50" "X" "153224915" "153224915" "subst" "5.64219E-6" "02325" "HCFC1_000087" "g.153224915C>A" "" "" "" "HCFC1(NM_005334.3):c.1472G>T (p.G491V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153959464C>A" "" "VUS" "" "0000619208" "0" "30" "X" "153225464" "153225464" "subst" "0" "01943" "HCFC1_000088" "g.153225464G>A" "" "" "" "HCFC1(NM_005334.2):c.1233C>T (p.S411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153960013G>A" "" "likely benign" "" "0000619209" "0" "30" "X" "153227760" "153227760" "subst" "0" "01943" "HCFC1_000079" "g.153227760G>A" "" "" "" "HCFC1(NM_005334.2):c.713-3C>T, HCFC1(NM_005334.3):c.713-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153962309G>A" "" "likely benign" "" "0000624491" "0" "30" "X" "153227717" "153227717" "subst" "0" "01943" "HCFC1_000089" "g.153227717C>A" "" "" "" "HCFC1(NM_005334.2):c.753G>T (p.A251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153962266C>A" "" "likely benign" "" "0000624492" "0" "30" "X" "153230074" "153230074" "subst" "5.78326E-6" "01943" "HCFC1_000090" "g.153230074C>G" "" "" "" "HCFC1(NM_005334.2):c.297G>C (p.G99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153964623C>G" "" "likely benign" "" "0000659169" "0" "30" "X" "153216935" "153216935" "subst" "5.60202E-6" "02327" "HCFC1_000091" "g.153216935G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153951484G>A" "" "likely benign" "" "0000659170" "0" "30" "X" "153217623" "153217623" "subst" "0" "02326" "HCFC1_000092" "g.153217623G>A" "" "" "" "HCFC1(NM_005334.3):c.4943-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153952172G>A" "" "likely benign" "" "0000659171" "0" "50" "X" "153218375" "153218375" "subst" "0" "02325" "HCFC1_000093" "g.153218375C>T" "" "" "" "HCFC1(NM_005334.2):c.4532G>A (p.(Arg1511His)), HCFC1(NM_005334.3):c.4532G>A (p.R1511H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153952924C>T" "" "VUS" "" "0000659172" "0" "30" "X" "153219054" "153219054" "subst" "4.59791E-5" "02325" "HCFC1_000094" "g.153219054T>C" "" "" "" "HCFC1(NM_005334.3):c.4497+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153953603T>C" "" "likely benign" "" "0000659173" "0" "50" "X" "153219137" "153219137" "subst" "1.69019E-5" "02327" "HCFC1_000095" "g.153219137G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153953686G>A" "" "VUS" "" "0000659174" "0" "30" "X" "153219725" "153219725" "subst" "1.18281E-5" "01943" "HCFC1_000096" "g.153219725G>A" "" "" "" "HCFC1(NM_005334.2):c.4125C>T (p.A1375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153954274G>A" "" "likely benign" "" "0000659175" "0" "30" "X" "153219773" "153219773" "subst" "1.80353E-5" "01943" "HCFC1_000097" "g.153219773T>C" "" "" "" "HCFC1(NM_005334.2):c.4077A>G (p.T1359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153954322T>C" "" "likely benign" "" "0000659176" "0" "10" "X" "153219782" "153219782" "subst" "0.00131101" "02326" "HCFC1_000018" "g.153219782G>A" "" "" "" "HCFC1(NM_005334.2):c.4068C>T (p.P1356=), HCFC1(NM_005334.3):c.4068C>T (p.P1356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153954331G>A" "" "benign" "" "0000659177" "0" "30" "X" "153220639" "153220639" "subst" "0.000500681" "01943" "HCFC1_000098" "g.153220639C>T" "" "" "" "HCFC1(NM_005334.2):c.3211G>A (p.V1071M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153955188C>T" "" "likely benign" "" "0000659178" "0" "30" "X" "153225584" "153225584" "subst" "0" "02326" "HCFC1_000099" "g.153225584T>C" "" "" "" "HCFC1(NM_005334.3):c.1113A>G (p.Q371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153960133T>C" "" "likely benign" "" "0000659179" "0" "30" "X" "153229604" "153229604" "subst" "0" "01943" "HCFC1_000100" "g.153229604A>G" "" "" "" "HCFC1(NM_005334.2):c.474T>C (p.D158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153964153A>G" "" "likely benign" "" "0000660584" "21" "90" "X" "153230153" "153230153" "subst" "0" "00006" "HCFC1_000101" "g.153230153G>A" "" "{PMID:Redin 2014:25167861}" "" "" "" "Germline" "" "" "0" "" "" "g.153964702G>A" "" "pathogenic (recessive)" "" "0000682235" "0" "10" "X" "153217620" "153217620" "subst" "0.000370817" "02326" "HCFC1_000102" "g.153217620G>A" "" "" "" "HCFC1(NM_005334.3):c.4943-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000682236" "0" "30" "X" "153219656" "153219656" "subst" "3.97274E-5" "01943" "HCFC1_000059" "g.153219656G>A" "" "" "" "HCFC1(NM_005334.2):c.4194C>T (p.S1398=), HCFC1(NM_005334.3):c.4194C>T (p.S1398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682237" "0" "30" "X" "153219692" "153219692" "subst" "0.000138461" "01943" "HCFC1_000103" "g.153219692G>C" "" "" "" "HCFC1(NM_005334.2):c.4158C>G (p.T1386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682238" "0" "30" "X" "153220160" "153220160" "subst" "7.23772E-5" "02326" "HCFC1_000104" "g.153220160C>T" "" "" "" "HCFC1(NM_005334.3):c.3690G>A (p.A1230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682239" "0" "30" "X" "153220560" "153220560" "subst" "0.000395288" "01943" "HCFC1_000026" "g.153220560T>G" "" "" "" "HCFC1(NM_005334.2):c.3290A>C (p.N1097T, p.(Asn1097Thr)), HCFC1(NM_005334.3):c.3290A>C (p.N1097T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682240" "0" "30" "X" "153221681" "153221681" "subst" "4.4824E-5" "01943" "HCFC1_000105" "g.153221681T>A" "" "" "" "HCFC1(NM_005334.2):c.2817A>T (p.T939=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682241" "0" "50" "X" "153221775" "153221775" "subst" "0" "02325" "HCFC1_000106" "g.153221775G>A" "" "" "" "HCFC1(NM_005334.3):c.2723C>T (p.T908M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682242" "0" "30" "X" "153222085" "153222085" "subst" "0.000369653" "02325" "HCFC1_000086" "g.153222085C>T" "" "" "" "HCFC1(NM_005334.2):c.2626G>A (p.G876S), HCFC1(NM_005334.3):c.2626G>A (p.G876S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682243" "0" "30" "X" "153222829" "153222829" "subst" "0.000277173" "01943" "HCFC1_000071" "g.153222829G>A" "" "" "" "HCFC1(NM_005334.2):c.2289C>T (p.P763=), HCFC1(NM_005334.3):c.2289C>T (p.P763=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693446" "0" "50" "X" "153216358" "153216358" "subst" "0" "02325" "HCFC1_000107" "g.153216358T>C" "" "" "" "HCFC1(NM_005334.3):c.5609A>G (p.N1870S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693447" "0" "30" "X" "153217121" "153217121" "subst" "0.00066193" "01943" "HCFC1_000053" "g.153217121C>T" "" "" "" "HCFC1(NM_005334.2):c.5298G>A (p.P1766=), HCFC1(NM_005334.3):c.5298G>A (p.P1766=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693448" "0" "30" "X" "153217341" "153217341" "subst" "0" "01943" "HCFC1_000108" "g.153217341G>T" "" "" "" "HCFC1(NM_005334.2):c.5211C>A (p.A1737=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693449" "0" "30" "X" "153219097" "153219097" "subst" "5.6547E-6" "01943" "HCFC1_000109" "g.153219097G>C" "" "" "" "HCFC1(NM_005334.2):c.4458C>G (p.T1486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693450" "0" "50" "X" "153220990" "153220990" "subst" "3.55917E-5" "01943" "HCFC1_000110" "g.153220990C>T" "" "" "" "HCFC1(NM_005334.2):c.2860G>A (p.V954M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693451" "0" "30" "X" "153229561" "153229561" "subst" "0.000855142" "02326" "HCFC1_000111" "g.153229561G>C" "" "" "" "HCFC1(NM_005334.3):c.503+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728590" "0" "50" "X" "153215859" "153215879" "dup" "0" "01943" "HCFC1_000112" "g.153215859_153215879dup" "" "" "" "HCFC1(NM_005334.2):c.5819_5839dupGCTCCACCCCGGCCCAGCTGG (p.L1946_A1947ins7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728591" "0" "50" "X" "153217091" "153217091" "subst" "1.68776E-5" "02329" "HCFC1_000011" "g.153217091C>G" "" "" "" "HCFC1(NM_005334.3):c.5328G>C (p.Q1776H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728592" "0" "50" "X" "153217379" "153217379" "subst" "6.59265E-6" "01943" "HCFC1_000113" "g.153217379C>T" "" "" "" "HCFC1(NM_005334.2):c.5173G>A (p.D1725N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728593" "0" "30" "X" "153218281" "153218281" "subst" "0.000146015" "02326" "HCFC1_000114" "g.153218281C>T" "" "" "" "HCFC1(NM_005334.3):c.4626G>A (p.E1542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728594" "0" "30" "X" "153218288" "153218288" "subst" "2.12493E-5" "01943" "HCFC1_000115" "g.153218288G>A" "" "" "" "HCFC1(NM_005334.2):c.4619C>T (p.T1540I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728595" "0" "50" "X" "153219226" "153219226" "subst" "0" "01943" "HCFC1_000116" "g.153219226G>C" "" "" "" "HCFC1(NM_005334.2):c.4334-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728596" "0" "30" "X" "153219822" "153219822" "subst" "0" "01943" "HCFC1_000117" "g.153219822C>T" "" "" "" "HCFC1(NM_005334.2):c.4028G>A (p.G1343D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728597" "0" "30" "X" "153220832" "153220832" "subst" "8.50008E-5" "01943" "HCFC1_000118" "g.153220832A>G" "" "" "" "HCFC1(NM_005334.2):c.3018T>C (p.P1006=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728598" "0" "70" "X" "153221721" "153221721" "subst" "0" "01943" "HCFC1_000119" "g.153221721G>A" "" "" "" "HCFC1(NM_005334.2):c.2777C>T (p.P926L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000728599" "0" "30" "X" "153221831" "153221831" "subst" "0.000140524" "01943" "HCFC1_000120" "g.153221831G>A" "" "" "" "HCFC1(NM_005334.2):c.2667C>T (p.T889=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728600" "0" "30" "X" "153222122" "153222122" "subst" "6.16091E-5" "01943" "HCFC1_000121" "g.153222122G>A" "" "" "" "HCFC1(NM_005334.2):c.2589C>T (p.S863=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728601" "0" "30" "X" "153222402" "153222402" "subst" "8.39471E-5" "01943" "HCFC1_000122" "g.153222402A>T" "" "" "" "HCFC1(NM_005334.2):c.2463T>A (p.I821=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728602" "0" "30" "X" "153222793" "153222793" "subst" "5.78741E-6" "01943" "HCFC1_000123" "g.153222793C>T" "" "" "" "HCFC1(NM_005334.2):c.2325G>A (p.S775=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728603" "0" "30" "X" "153223524" "153223524" "subst" "2.24371E-5" "01943" "HCFC1_000124" "g.153223524G>A" "" "" "" "HCFC1(NM_005334.2):c.1980C>T (p.T660=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728604" "0" "30" "X" "153228740" "153228740" "subst" "1.11968E-5" "01943" "HCFC1_000125" "g.153228740G>C" "" "" "" "HCFC1(NM_005334.2):c.648C>G (p.S216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810084" "0" "30" "X" "153209583" "153209583" "subst" "0.000242688" "01943" "HCFC1_000126" "g.153209583G>A" "" "" "" "RENBP(NM_002910.5):c.162C>T (p.R54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810085" "0" "50" "X" "153217566" "153217571" "del" "0" "01943" "HCFC1_000127" "g.153217566_153217571del" "" "" "" "HCFC1(NM_005334.2):c.4983_4988delCGTGAC (p.V1662_T1663del), HCFC1(NM_005334.3):c.4983_4988del (p.(Val1662_Thr1663del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810086" "0" "30" "X" "153219691" "153219691" "subst" "0.000298789" "01943" "HCFC1_000060" "g.153219691C>T" "" "" "" "HCFC1(NM_005334.2):c.4159G>A (p.V1387M, p.(Val1387Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810087" "0" "30" "X" "153219825" "153219825" "subst" "2.87208E-5" "01943" "HCFC1_000063" "g.153219825G>A" "" "" "" "HCFC1(NM_005334.2):c.4025C>T (p.T1342M), HCFC1(NM_005334.3):c.4025C>T (p.T1342M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810088" "0" "30" "X" "153219863" "153219863" "subst" "8.4507E-5" "01943" "HCFC1_000128" "g.153219863G>A" "" "" "" "HCFC1(NM_005334.2):c.3987C>T (p.T1329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810089" "0" "30" "X" "153219920" "153219920" "subst" "0.000157077" "01943" "HCFC1_000129" "g.153219920T>A" "" "" "" "HCFC1(NM_005334.2):c.3930A>T (p.A1310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810090" "0" "30" "X" "153219947" "153219947" "subst" "0.000342393" "01943" "HCFC1_000130" "g.153219947G>A" "" "" "" "HCFC1(NM_005334.2):c.3903C>T (p.T1301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810091" "0" "30" "X" "153220295" "153220295" "subst" "0" "01943" "HCFC1_000131" "g.153220295G>A" "" "" "" "HCFC1(NM_005334.2):c.3555C>T (p.A1185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810092" "0" "30" "X" "153220358" "153220358" "subst" "0.00065193" "01943" "HCFC1_000066" "g.153220358G>A" "" "" "" "HCFC1(NM_005334.2):c.3492C>T (p.S1164=), HCFC1(NM_005334.3):c.3492C>T (p.S1164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810093" "0" "30" "X" "153220457" "153220457" "subst" "0" "01943" "HCFC1_000132" "g.153220457G>A" "" "" "" "HCFC1(NM_005334.2):c.3393C>T (p.H1131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810094" "0" "30" "X" "153220876" "153220876" "subst" "0.000846976" "01804" "HCFC1_000085" "g.153220876C>T" "" "" "" "HCFC1(NM_005334.2):c.2974G>A (p.(Ala992Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810095" "0" "30" "X" "153229712" "153229712" "subst" "0" "01943" "HCFC1_000133" "g.153229712T>C" "" "" "" "HCFC1(NM_005334.2):c.366A>G (p.R122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856429" "0" "30" "X" "153208475" "153208475" "subst" "1.79103E-5" "01943" "HCFC1_000134" "g.153208475C>T" "" "" "" "RENBP(NM_002910.5):c.519G>A (p.S173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856430" "0" "30" "X" "153220286" "153220286" "subst" "7.92411E-5" "01943" "HCFC1_000137" "g.153220286C>T" "" "" "" "HCFC1(NM_005334.2):c.3564G>A (p.S1188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856431" "0" "30" "X" "153224125" "153224125" "subst" "9.4627E-5" "01943" "HCFC1_000139" "g.153224125C>T" "" "" "" "HCFC1(NM_005334.2):c.1698G>A (p.T566=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867185" "0" "30" "X" "153216333" "153216333" "subst" "5.59845E-6" "01943" "HCFC1_000135" "g.153216333G>A" "" "" "" "HCFC1(NM_005334.2):c.5634C>T (p.S1878=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867186" "0" "30" "X" "153216414" "153216414" "subst" "5.60482E-6" "01943" "HCFC1_000136" "g.153216414C>T" "" "" "" "HCFC1(NM_005334.2):c.5553G>A (p.L1851=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867187" "0" "50" "X" "153220368" "153220368" "subst" "0" "01943" "HCFC1_000138" "g.153220368C>A" "" "" "" "HCFC1(NM_005334.2):c.3482G>T (p.G1161V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895990" "0" "50" "X" "153219179" "153219179" "subst" "0" "02329" "HCFC1_000140" "g.153219179G>A" "" "" "" "HCFC1(NM_005334.3):c.4376C>T (p.T1459I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895991" "0" "50" "X" "153219945" "153219945" "subst" "1.12267E-5" "02325" "HCFC1_000141" "g.153219945G>A" "" "" "" "HCFC1(NM_005334.3):c.3905C>T (p.T1302I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895992" "0" "50" "X" "153221698" "153221698" "subst" "5.59845E-6" "02327" "HCFC1_000142" "g.153221698C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895993" "0" "50" "X" "153222118" "153222118" "subst" "0" "02325" "HCFC1_000143" "g.153222118C>T" "" "" "" "HCFC1(NM_005334.3):c.2593G>A (p.V865I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895994" "0" "50" "X" "153225785" "153225785" "subst" "0" "02325" "HCFC1_000144" "g.153225785C>G" "" "" "" "HCFC1(NM_005334.3):c.985G>C (p.A329P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915637" "0" "50" "X" "153219110" "153219110" "subst" "0" "02325" "HCFC1_000145" "g.153219110C>T" "" "" "" "HCFC1(NM_005334.3):c.4445G>A (p.R1482Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915638" "0" "30" "X" "153219975" "153219975" "subst" "0" "02326" "HCFC1_000146" "g.153219975G>A" "" "" "" "HCFC1(NM_005334.3):c.3875C>T (p.P1292L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927278" "0" "30" "X" "153216925" "153216927" "del" "0" "02325" "HCFC1_000010" "g.153216925_153216927del" "" "" "" "HCFC1(NM_005334.3):c.5394_5396delGCC (p.P1801del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927279" "0" "50" "X" "153222208" "153222208" "subst" "0" "02325" "HCFC1_000147" "g.153222208G>T" "" "" "" "HCFC1(NM_005334.3):c.2503C>A (p.L835I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951706" "0" "50" "X" "153220476" "153220476" "subst" "0" "02325" "HCFC1_000148" "g.153220476G>A" "" "" "" "HCFC1(NM_005334.3):c.3374C>T (p.S1125L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984542" "0" "30" "X" "153217340" "153217340" "subst" "0" "01804" "HCFC1_000151" "g.153217340C>T" "" "" "" "HCFC1(NM_005334.3):c.5212G>A (p.(Gly1738Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984544" "0" "50" "X" "153227685" "153227685" "subst" "0" "02325" "HCFC1_000153" "g.153227685G>A" "" "" "" "HCFC1(NM_005334.3):c.785C>T (p.T262I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006542" "0" "50" "X" "153217568" "153217568" "subst" "0" "01804" "HCFC1_000154" "g.153217568C>T" "" "" "" "HCFC1(NM_005334.2):c.4984G>A (p.(Val1662Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006543" "0" "30" "X" "153218230" "153218230" "subst" "0" "01804" "HCFC1_000155" "g.153218230C>G" "" "" "" "HCFC1(NM_005334.2):c.4677G>C (p.(Gln1559His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006544" "0" "50" "X" "153218375" "153218375" "subst" "0" "01804" "HCFC1_000093" "g.153218375C>T" "" "" "" "HCFC1(NM_005334.2):c.4532G>A (p.(Arg1511His)), HCFC1(NM_005334.3):c.4532G>A (p.R1511H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006545" "0" "50" "X" "153220957" "153220957" "subst" "0" "01804" "HCFC1_000156" "g.153220957C>T" "" "" "" "HCFC1(NM_005334.2):c.2893G>A (p.(Ala965Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006546" "0" "50" "X" "153224837" "153224837" "subst" "0" "01804" "HCFC1_000157" "g.153224837G>A" "" "" "" "HCFC1(NM_005334.2):c.1550C>T (p.(Thr517Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006547" "0" "30" "X" "153229569" "153229569" "subst" "0" "02325" "HCFC1_000158" "g.153229569C>T" "" "" "" "HCFC1(NM_005334.3):c.503+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001016000" "0" "50" "X" "153217152" "153217152" "subst" "2.41202E-5" "02325" "HCFC1_000159" "g.153217152G>A" "" "" "" "HCFC1(NM_005334.3):c.5267C>T (p.A1756V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016001" "0" "30" "X" "153220004" "153220004" "subst" "7.89213E-5" "02325" "HCFC1_000160" "g.153220004C>T" "" "" "" "HCFC1(NM_005334.3):c.3846G>A (p.S1282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044188" "0" "50" "X" "153217566" "153217571" "del" "0" "01804" "HCFC1_000127" "g.153217566_153217571del" "" "" "" "HCFC1(NM_005334.2):c.4983_4988delCGTGAC (p.V1662_T1663del), HCFC1(NM_005334.3):c.4983_4988del (p.(Val1662_Thr1663del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044189" "0" "50" "X" "153219669" "153219669" "subst" "0" "01804" "HCFC1_000161" "g.153219669G>A" "" "" "" "HCFC1(NM_005334.3):c.4181C>T (p.(Ala1394Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046845" "0" "30" "X" "153223236" "153223236" "subst" "1.69137E-5" "02326" "HCFC1_000162" "g.153223236G>A" "" "" "" "HCFC1(NM_005334.3):c.2130C>T (p.I710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 HCFC1 ## Count = 179 "{{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}}" "0000008045" "00000415" "50" "5859" "0" "5859" "0" "c.5859C>T" "r.(?)" "p.(=)" "" "0000008046" "00000415" "50" "4333" "91" "4333" "91" "c.4333+91C>T" "r.(=)" "p.(=)" "" "0000010223" "00000415" "50" "5859" "0" "5859" "0" "c.5859C>T" "r.(?)" "p.(=)" "" "0000010224" "00000415" "50" "4333" "91" "4333" "91" "c.4333+91C>T" "r.(=)" "p.(=)" "" "0000079423" "00000415" "00" "2492" "0" "2492" "0" "c.2492C>T" "r.(?)" "p.(Thr831Ile)" "" "0000248893" "00000415" "10" "3490" "0" "3490" "0" "c.3490T>C" "r.(?)" "p.(Ser1164Pro)" "" "0000255171" "00000415" "30" "1200" "0" "1200" "0" "c.1200T>C" "r.(?)" "p.(Tyr400=)" "" "0000281235" "00000415" "10" "2283" "0" "2283" "0" "c.2283C>G" "r.(?)" "p.(Thr761=)" "" "0000281236" "00000415" "30" "2590" "0" "2590" "0" "c.2590G>A" "r.(?)" "p.(Ala864Thr)" "" "0000281237" "00000415" "10" "2841" "0" "2841" "0" "c.2841A>G" "r.(?)" "p.(Pro947=)" "" "0000281238" "00000415" "10" "4185" "0" "4185" "0" "c.4185G>A" "r.(?)" "p.(Ala1395=)" "" "0000281239" "00000415" "10" "4542" "0" "4542" "0" "c.4542G>T" "r.(?)" "p.(Leu1514=)" "" "0000281240" "00000415" "30" "5418" "0" "5418" "0" "c.5418G>A" "r.(?)" "p.(Met1806Ile)" "" "0000281241" "00000415" "10" "5859" "0" "5859" "0" "c.5859C>T" "r.(?)" "p.(Cys1953=)" "" "0000281242" "00000415" "10" "713" "-13" "713" "-13" "c.713-13C>T" "r.(=)" "p.(=)" "" "0000285067" "00000415" "10" "2872" "0" "2872" "0" "c.2872A>G" "r.(?)" "p.(Thr958Ala)" "" "0000285068" "00000415" "30" "3270" "0" "3270" "0" "c.3270C>T" "r.(?)" "p.(Thr1090=)" "" "0000285069" "00000415" "30" "3615" "0" "3615" "0" "c.3615C>T" "r.(?)" "p.(Ser1205=)" "" "0000285070" "00000415" "30" "5958" "0" "5958" "0" "c.5958C>T" "r.(?)" "p.(Arg1986=)" "" "0000288962" "00000415" "30" "126" "0" "126" "0" "c.126G>A" "r.(?)" "p.(Lys42=)" "" "0000288963" "00000415" "10" "2590" "0" "2590" "0" "c.2590G>A" "r.(?)" "p.(Ala864Thr)" "" "0000288964" "00000415" "30" "2787" "0" "2787" "0" "c.2787C>T" "r.(?)" "p.(Ile929=)" "" "0000288965" "00000415" "10" "2872" "0" "2872" "0" "c.2872A>G" "r.(?)" "p.(Thr958Ala)" "" "0000288966" "00000415" "30" "3353" "0" "3353" "0" "c.3353A>G" "r.(?)" "p.(Asn1118Ser)" "" "0000288967" "00000415" "10" "4068" "0" "4068" "0" "c.4068C>T" "r.(?)" "p.(Pro1356=)" "" "0000288968" "00000415" "30" "4135" "0" "4135" "0" "c.4135G>A" "r.(?)" "p.(Asp1379Asn)" "" "0000288969" "00000415" "50" "439" "0" "439" "0" "c.439A>G" "r.(?)" "p.(Asn147Asp)" "" "0000288970" "00000415" "10" "4442" "0" "4442" "0" "c.4442C>T" "r.(?)" "p.(Thr1481Met)" "" "0000288971" "00000415" "30" "5397" "0" "5397" "0" "c.5397C>A" "r.(?)" "p.(Pro1799=)" "" "0000288972" "00000415" "30" "5751" "0" "5751" "0" "c.5751C>T" "r.(?)" "p.(Ser1917=)" "" "0000336130" "00000415" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Val1399Ile)" "" "0000336131" "00000415" "30" "3907" "0" "3907" "0" "c.3907A>C" "r.(?)" "p.(Asn1303His)" "" "0000336135" "00000415" "30" "3290" "0" "3290" "0" "c.3290A>C" "r.(?)" "p.(Asn1097Thr)" "" "0000336136" "00000415" "30" "2872" "0" "2872" "0" "c.2872A>G" "r.(?)" "p.(Thr958Ala)" "" "0000336137" "00000415" "50" "2797" "0" "2797" "0" "c.2797G>A" "r.(?)" "p.(Ala933Thr)" "" "0000346929" "00000415" "30" "4915" "0" "4915" "0" "c.4915C>T" "r.(?)" "p.(Leu1639Phe)" "" "0000393346" "00000415" "50" "2033" "0" "2033" "0" "c.2033C>T" "r.(?)" "p.(Ser678Phe)" "" "0000393347" "00000415" "50" "2299" "0" "2299" "0" "c.2299A>G" "r.(?)" "p.(Thr767Ala)" "" "0000393348" "00000415" "50" "3894" "0" "3894" "0" "c.3894G>A" "r.(=)" "p.(=)" "" "0000393349" "00000415" "50" "420" "0" "420" "0" "c.420C>G" "r.(?)" "p.(His140Gln)" "" "0000408031" "00000415" "00" "674" "0" "674" "0" "c.674G>A" "r.(?)" "p.(Ser225Asn)" "" "0000408064" "00000415" "00" "-373615" "0" "510100" "0" "c.-373615_*503992dup" "r.0?" "p.0?" "" "0000574471" "00000415" "30" "12544" "0" "12544" "0" "c.*6436G>C" "r.(=)" "p.(=)" "" "0000574473" "00000415" "10" "11037" "0" "11037" "0" "c.*4929A>G" "r.(=)" "p.(=)" "" "0000574475" "00000415" "50" "6097" "0" "6097" "0" "c.6097G>A" "r.(?)" "p.(Asp2033Asn)" "" "0000574476" "00000415" "30" "6005" "-12" "6005" "-12" "c.6005-12C>T" "r.(=)" "p.(=)" "" "0000574477" "00000415" "50" "5957" "0" "5957" "0" "c.5957G>A" "r.(?)" "p.(Arg1986His)" "" "0000574478" "00000415" "50" "5499" "0" "5499" "0" "c.5499T>G" "r.(?)" "p.(Asp1833Glu)" "" "0000574479" "00000415" "30" "5418" "0" "5418" "0" "c.5418G>A" "r.(?)" "p.(Met1806Ile)" "" "0000574480" "00000415" "30" "5300" "0" "5300" "0" "c.5300T>G" "r.(?)" "p.(Val1767Gly)" "" "0000574481" "00000415" "30" "5298" "0" "5298" "0" "c.5298G>A" "r.(?)" "p.(Pro1766=)" "" "0000574482" "00000415" "30" "5201" "0" "5201" "0" "c.5201A>G" "r.(?)" "p.(Asn1734Ser)" "" "0000574483" "00000415" "30" "4741" "0" "4741" "0" "c.4741G>C" "r.(?)" "p.(Glu1581Gln)" "" "0000574484" "00000415" "30" "4725" "0" "4725" "0" "c.4725C>T" "r.(?)" "p.(Pro1575=)" "" "0000574485" "00000415" "30" "4725" "0" "4725" "0" "c.4725C>T" "r.(?)" "p.(Pro1575=)" "" "0000574486" "00000415" "50" "4598" "0" "4598" "0" "c.4598A>G" "r.(?)" "p.(Glu1533Gly)" "" "0000574487" "00000415" "30" "4442" "0" "4442" "0" "c.4442C>T" "r.(?)" "p.(Thr1481Met)" "" "0000574488" "00000415" "30" "4437" "0" "4437" "0" "c.4437A>G" "r.(?)" "p.(Thr1479=)" "" "0000574489" "00000415" "50" "4207" "0" "4207" "0" "c.4207G>C" "r.(?)" "p.(Ala1403Pro)" "" "0000574490" "00000415" "30" "4194" "0" "4194" "0" "c.4194C>T" "r.(?)" "p.(Ser1398=)" "" "0000574491" "00000415" "30" "4159" "0" "4159" "0" "c.4159G>A" "r.(?)" "p.(Val1387Met)" "" "0000574492" "00000415" "30" "4158" "0" "4158" "0" "c.4158C>T" "r.(?)" "p.(Thr1386=)" "" "0000574493" "00000415" "50" "4109" "0" "4109" "0" "c.4109C>T" "r.(?)" "p.(Ser1370Leu)" "" "0000574494" "00000415" "30" "4025" "0" "4025" "0" "c.4025C>T" "r.(?)" "p.(Thr1342Met)" "" "0000574495" "00000415" "50" "4006" "0" "4006" "0" "c.4006G>A" "r.(?)" "p.(Ala1336Thr)" "" "0000574496" "00000415" "30" "3757" "0" "3757" "0" "c.3757C>T" "r.(?)" "p.(Arg1253Cys)" "" "0000574498" "00000415" "50" "3644" "0" "3644" "0" "c.3644G>A" "r.(?)" "p.(Ser1215Asn)" "" "0000574499" "00000415" "10" "3492" "0" "3492" "0" "c.3492C>T" "r.(?)" "p.(Ser1164=)" "" "0000574500" "00000415" "50" "3338" "0" "3338" "0" "c.3338A>C" "r.(?)" "p.(Glu1113Ala)" "" "0000574501" "00000415" "50" "3270" "0" "3356" "0" "c.3270_3356del" "r.(?)" "p.(Thr1095_Ala1123del)" "" "0000574502" "00000415" "50" "3292" "0" "3292" "0" "c.3292A>G" "r.(?)" "p.(Met1098Val)" "" "0000574503" "00000415" "30" "3290" "0" "3290" "0" "c.3290A>C" "r.(?)" "p.(Asn1097Thr)" "" "0000574504" "00000415" "30" "2787" "0" "2787" "0" "c.2787C>T" "r.(?)" "p.(Ile929=)" "" "0000574505" "00000415" "30" "2604" "0" "2604" "0" "c.2604C>T" "r.(?)" "p.(Ala868=)" "" "0000574507" "00000415" "30" "2590" "0" "2590" "0" "c.2590G>A" "r.(?)" "p.(Ala864Thr)" "" "0000574508" "00000415" "30" "2289" "0" "2289" "0" "c.2289C>T" "r.(?)" "p.(Pro763=)" "" "0000574509" "00000415" "30" "2109" "0" "2109" "0" "c.2109G>A" "r.(?)" "p.(Thr703=)" "" "0000574510" "00000415" "50" "2036" "0" "2036" "0" "c.2036A>G" "r.(?)" "p.(Asn679Ser)" "" "0000574511" "00000415" "50" "1885" "0" "1885" "0" "c.1885A>G" "r.(?)" "p.(Thr629Ala)" "" "0000574512" "00000415" "50" "1616" "0" "1616" "0" "c.1616G>A" "r.(?)" "p.(Ser539Asn)" "" "0000574513" "00000415" "30" "1407" "0" "1407" "0" "c.1407C>T" "r.(?)" "p.(Gly469=)" "" "0000574514" "00000415" "30" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Ala388Thr)" "" "0000574515" "00000415" "50" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374Cys)" "" "0000574516" "00000415" "30" "713" "-3" "713" "-3" "c.713-3C>T" "r.spl?" "p.?" "" "0000574517" "00000415" "50" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Leu123Phe)" "" "0000619200" "00000415" "30" "11037" "0" "11037" "0" "c.*4929A>G" "r.(=)" "p.(=)" "" "0000619201" "00000415" "30" "6096" "0" "6096" "0" "c.6096C>T" "r.(?)" "p.(Ala2032=)" "" "0000619202" "00000415" "30" "4636" "0" "4636" "0" "c.4636G>A" "r.(?)" "p.(Ala1546Thr)" "" "0000619203" "00000415" "50" "3892" "0" "3892" "0" "c.3892G>A" "r.(?)" "p.(Glu1298Lys)" "" "0000619204" "00000415" "30" "3775" "0" "3775" "0" "c.3775G>A" "r.(?)" "p.(Glu1259Lys)" "" "0000619206" "00000415" "50" "2626" "0" "2626" "0" "c.2626G>A" "r.(?)" "p.(Gly876Ser)" "" "0000619207" "00000415" "50" "1472" "0" "1472" "0" "c.1472G>T" "r.(?)" "p.(Gly491Val)" "" "0000619208" "00000415" "30" "1233" "0" "1233" "0" "c.1233C>T" "r.(?)" "p.(Ser411=)" "" "0000619209" "00000415" "30" "713" "-3" "713" "-3" "c.713-3C>T" "r.spl?" "p.?" "" "0000624491" "00000415" "30" "753" "0" "753" "0" "c.753G>T" "r.(?)" "p.(Ala251=)" "" "0000624492" "00000415" "30" "297" "0" "297" "0" "c.297G>C" "r.(?)" "p.(Gly99=)" "" "0000659169" "00000415" "30" "5383" "0" "5383" "0" "c.5383C>T" "r.(?)" "p.(Pro1795Ser)" "" "0000659170" "00000415" "30" "4943" "-14" "4943" "-14" "c.4943-14C>T" "r.(=)" "p.(=)" "" "0000659171" "00000415" "50" "4532" "0" "4532" "0" "c.4532G>A" "r.(?)" "p.(Arg1511His)" "" "0000659172" "00000415" "30" "4497" "4" "4497" "4" "c.4497+4A>G" "r.spl?" "p.?" "" "0000659173" "00000415" "50" "4418" "0" "4418" "0" "c.4418C>T" "r.(?)" "p.(Thr1473Met)" "" "0000659174" "00000415" "30" "4125" "0" "4125" "0" "c.4125C>T" "r.(?)" "p.(Ala1375=)" "" "0000659175" "00000415" "30" "4077" "0" "4077" "0" "c.4077A>G" "r.(?)" "p.(Thr1359=)" "" "0000659176" "00000415" "10" "4068" "0" "4068" "0" "c.4068C>T" "r.(?)" "p.(Pro1356=)" "" "0000659177" "00000415" "30" "3211" "0" "3211" "0" "c.3211G>A" "r.(?)" "p.(Val1071Met)" "" "0000659178" "00000415" "30" "1113" "0" "1113" "0" "c.1113A>G" "r.(?)" "p.(Gln371=)" "" "0000659179" "00000415" "30" "474" "0" "474" "0" "c.474T>C" "r.(?)" "p.(Asp158=)" "" "0000660584" "00000415" "90" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Ala73Val)" "" "0000682235" "00000415" "10" "4943" "-11" "4943" "-11" "c.4943-11C>T" "r.(=)" "p.(=)" "" "0000682236" "00000415" "30" "4194" "0" "4194" "0" "c.4194C>T" "r.(?)" "p.(Ser1398=)" "" "0000682237" "00000415" "30" "4158" "0" "4158" "0" "c.4158C>G" "r.(?)" "p.(Thr1386=)" "" "0000682238" "00000415" "30" "3690" "0" "3690" "0" "c.3690G>A" "r.(?)" "p.(Ala1230=)" "" "0000682239" "00000415" "30" "3290" "0" "3290" "0" "c.3290A>C" "r.(?)" "p.(Asn1097Thr)" "" "0000682240" "00000415" "30" "2817" "0" "2817" "0" "c.2817A>T" "r.(?)" "p.(Thr939=)" "" "0000682241" "00000415" "50" "2723" "0" "2723" "0" "c.2723C>T" "r.(?)" "p.(Thr908Met)" "" "0000682242" "00000415" "30" "2626" "0" "2626" "0" "c.2626G>A" "r.(?)" "p.(Gly876Ser)" "" "0000682243" "00000415" "30" "2289" "0" "2289" "0" "c.2289C>T" "r.(?)" "p.(Pro763=)" "" "0000693446" "00000415" "50" "5609" "0" "5609" "0" "c.5609A>G" "r.(?)" "p.(Asn1870Ser)" "" "0000693447" "00000415" "30" "5298" "0" "5298" "0" "c.5298G>A" "r.(?)" "p.(Pro1766=)" "" "0000693448" "00000415" "30" "5211" "0" "5211" "0" "c.5211C>A" "r.(?)" "p.(Ala1737=)" "" "0000693449" "00000415" "30" "4458" "0" "4458" "0" "c.4458C>G" "r.(?)" "p.(Thr1486=)" "" "0000693450" "00000415" "50" "2860" "0" "2860" "0" "c.2860G>A" "r.(?)" "p.(Val954Met)" "" "0000693451" "00000415" "30" "503" "14" "503" "14" "c.503+14C>G" "r.(=)" "p.(=)" "" "0000728590" "00000415" "50" "5819" "0" "5839" "0" "c.5819_5839dup" "r.(?)" "p.(Leu1946_Ala1947insGlySerThrProAlaGlnLeu)" "" "0000728591" "00000415" "50" "5328" "0" "5328" "0" "c.5328G>C" "r.(?)" "p.(Gln1776His)" "" "0000728592" "00000415" "50" "5173" "0" "5173" "0" "c.5173G>A" "r.(?)" "p.(Asp1725Asn)" "" "0000728593" "00000415" "30" "4626" "0" "4626" "0" "c.4626G>A" "r.(?)" "p.(Glu1542=)" "" "0000728594" "00000415" "30" "4619" "0" "4619" "0" "c.4619C>T" "r.(?)" "p.(Thr1540Ile)" "" "0000728595" "00000415" "50" "4334" "-5" "4334" "-5" "c.4334-5C>G" "r.spl?" "p.?" "" "0000728596" "00000415" "30" "4028" "0" "4028" "0" "c.4028G>A" "r.(?)" "p.(Gly1343Asp)" "" "0000728597" "00000415" "30" "3018" "0" "3018" "0" "c.3018T>C" "r.(?)" "p.(Pro1006=)" "" "0000728598" "00000415" "70" "2777" "0" "2777" "0" "c.2777C>T" "r.(?)" "p.(Pro926Leu)" "" "0000728599" "00000415" "30" "2667" "0" "2667" "0" "c.2667C>T" "r.(?)" "p.(Thr889=)" "" "0000728600" "00000415" "30" "2589" "0" "2589" "0" "c.2589C>T" "r.(?)" "p.(Ser863=)" "" "0000728601" "00000415" "30" "2463" "0" "2463" "0" "c.2463T>A" "r.(?)" "p.(Ile821=)" "" "0000728602" "00000415" "30" "2325" "0" "2325" "0" "c.2325G>A" "r.(?)" "p.(Ser775=)" "" "0000728603" "00000415" "30" "1980" "0" "1980" "0" "c.1980C>T" "r.(?)" "p.(Thr660=)" "" "0000728604" "00000415" "30" "648" "0" "648" "0" "c.648C>G" "r.(?)" "p.(Ser216=)" "" "0000810084" "00000415" "30" "11323" "0" "11323" "0" "c.*5215C>T" "r.(=)" "p.(=)" "" "0000810085" "00000415" "50" "4983" "0" "4988" "0" "c.4983_4988del" "r.(?)" "p.(Val1662_Thr1663del)" "" "0000810086" "00000415" "30" "4159" "0" "4159" "0" "c.4159G>A" "r.(?)" "p.(Val1387Met)" "" "0000810087" "00000415" "30" "4025" "0" "4025" "0" "c.4025C>T" "r.(?)" "p.(Thr1342Met)" "" "0000810088" "00000415" "30" "3987" "0" "3987" "0" "c.3987C>T" "r.(?)" "p.(Thr1329=)" "" "0000810089" "00000415" "30" "3930" "0" "3930" "0" "c.3930A>T" "r.(?)" "p.(Ala1310=)" "" "0000810090" "00000415" "30" "3903" "0" "3903" "0" "c.3903C>T" "r.(?)" "p.(Thr1301=)" "" "0000810091" "00000415" "30" "3555" "0" "3555" "0" "c.3555C>T" "r.(?)" "p.(Ala1185=)" "" "0000810092" "00000415" "30" "3492" "0" "3492" "0" "c.3492C>T" "r.(?)" "p.(Ser1164=)" "" "0000810093" "00000415" "30" "3393" "0" "3393" "0" "c.3393C>T" "r.(?)" "p.(His1131=)" "" "0000810094" "00000415" "30" "2974" "0" "2974" "0" "c.2974G>A" "r.(?)" "p.(Ala992Thr)" "" "0000810095" "00000415" "30" "366" "0" "366" "0" "c.366A>G" "r.(?)" "p.(Arg122=)" "" "0000856429" "00000415" "30" "12431" "0" "12431" "0" "c.*6323G>A" "r.(=)" "p.(=)" "" "0000856430" "00000415" "30" "3564" "0" "3564" "0" "c.3564G>A" "r.(?)" "p.(Ser1188=)" "" "0000856431" "00000415" "30" "1698" "0" "1698" "0" "c.1698G>A" "r.(?)" "p.(Thr566=)" "" "0000867185" "00000415" "30" "5634" "0" "5634" "0" "c.5634C>T" "r.(?)" "p.(Ser1878=)" "" "0000867186" "00000415" "30" "5553" "0" "5553" "0" "c.5553G>A" "r.(?)" "p.(Leu1851=)" "" "0000867187" "00000415" "50" "3482" "0" "3482" "0" "c.3482G>T" "r.(?)" "p.(Gly1161Val)" "" "0000895990" "00000415" "50" "4376" "0" "4376" "0" "c.4376C>T" "r.(?)" "p.(Thr1459Ile)" "" "0000895991" "00000415" "50" "3905" "0" "3905" "0" "c.3905C>T" "r.(?)" "p.(Thr1302Ile)" "" "0000895992" "00000415" "50" "2800" "0" "2800" "0" "c.2800G>A" "r.(?)" "p.(Ala934Thr)" "" "0000895993" "00000415" "50" "2593" "0" "2593" "0" "c.2593G>A" "r.(?)" "p.(Val865Ile)" "" "0000895994" "00000415" "50" "985" "0" "985" "0" "c.985G>C" "r.(?)" "p.(Ala329Pro)" "" "0000915637" "00000415" "50" "4445" "0" "4445" "0" "c.4445G>A" "r.(?)" "p.(Arg1482Gln)" "" "0000915638" "00000415" "30" "3875" "0" "3875" "0" "c.3875C>T" "r.(?)" "p.(Pro1292Leu)" "" "0000927278" "00000415" "30" "5394" "0" "5396" "0" "c.5394_5396del" "r.(?)" "p.(Pro1801del)" "" "0000927279" "00000415" "50" "2503" "0" "2503" "0" "c.2503C>A" "r.(?)" "p.(Leu835Ile)" "" "0000951706" "00000415" "50" "3374" "0" "3374" "0" "c.3374C>T" "r.(?)" "p.(Ser1125Leu)" "" "0000984542" "00000415" "30" "5212" "0" "5212" "0" "c.5212G>A" "r.(?)" "p.(Gly1738Ser)" "" "0000984544" "00000415" "50" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Thr262Ile)" "" "0001006542" "00000415" "50" "4984" "0" "4984" "0" "c.4984G>A" "r.(?)" "p.(Val1662Met)" "" "0001006543" "00000415" "30" "4677" "0" "4677" "0" "c.4677G>C" "r.(?)" "p.(Gln1559His)" "" "0001006544" "00000415" "50" "4532" "0" "4532" "0" "c.4532G>A" "r.(?)" "p.(Arg1511His)" "" "0001006545" "00000415" "50" "2893" "0" "2893" "0" "c.2893G>A" "r.(?)" "p.(Ala965Thr)" "" "0001006546" "00000415" "50" "1550" "0" "1550" "0" "c.1550C>T" "r.(?)" "p.(Thr517Ile)" "" "0001006547" "00000415" "30" "503" "6" "503" "6" "c.503+6G>A" "r.(=)" "p.(=)" "" "0001016000" "00000415" "50" "5267" "0" "5267" "0" "c.5267C>T" "r.(?)" "p.(Ala1756Val)" "" "0001016001" "00000415" "30" "3846" "0" "3846" "0" "c.3846G>A" "r.(?)" "p.(=)" "" "0001044188" "00000415" "50" "4983" "0" "4988" "0" "c.4983_4988del" "r.(?)" "p.(Val1662_Thr1663del)" "" "0001044189" "00000415" "50" "4181" "0" "4181" "0" "c.4181C>T" "r.(?)" "p.(Ala1394Val)" "" "0001046845" "00000415" "30" "2130" "0" "2130" "0" "c.2130C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000000209" "0000008045" "0000000209" "0000008046" "0000000210" "0000010223" "0000000210" "0000010224" "0000050443" "0000079423" "0000173489" "0000393346" "0000173490" "0000393347" "0000173491" "0000393348" "0000173492" "0000393349" "0000184062" "0000408031" "0000184095" "0000408064" "0000297884" "0000660584"