### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TNXB) # 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}}" "TNXB" "tenascin XB" "6" "p21.33-p21.32" "unknown" "NG_008337.2" "UD_132118364322" "" "https://www.LOVD.nl/TNXB" "" "1" "11976" "7148" "600985" "1" "1" "1" "1" "Change to MANE select NM_001365276.2.\r\nEstablishment 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/TNXB_codingDNA.html" "1" "" "

Ehlers Danlos Syndrome Variant Database

\r\n\r\n\r\n
\r\n
" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00085" "2024-02-13 14:30:49" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00021614" "TNXB" "transcript variant XB" "001" "NM_019105.6" "" "NP_061978.6" "" "" "" "-202" "12923" "12729" "32077151" "32008932" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00169" "EDS" "Ehlers-Danlos syndrome (EDS)" "" "" "" "" "" "00006" "2013-08-01 11:03:44" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00422" "DPDD" "dihydropyrimidine dehydrogenase deficiency (DPDD)" "AR" "274270" "" "" "" "00006" "2014-06-17 21:43:51" "00006" "2021-12-10 21:51:32" "01301" "EDSHMB" "Ehlers-Danlos syndrome, hypermobility type (EDSHMB, EDS3)" "" "130020" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-01-15 08:54:52" "01629" "adrenal hyperplasia" "adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency" "AR" "201910" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-07-09 16:56:01" "02585" "EDSCLL" "Ehlers-Danlos-like syndrome, classic-like type (EDSCLL)" "AR" "606408" "" "" "Formerly known as EDS due to Tenascin-X (TNX) deficiency." "00006" "2014-09-25 23:29:40" "03701" "2020-07-31 12:14:24" "04217" "WEST" "West syndrome (WEST, epileptic encephalopathy, early infantile)" "" "" "" "" "" "00006" "2015-03-06 11:05:39" "" "" "05039" "VUR8" "reflux, vesicoureteral, type 8 (VUR8)" "AD" "615963" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2020-01-15 08:54:19" "05104" "-" "neuropathy, peripheral" "" "" "" "" "" "00006" "2015-12-05 03:05:09" "" "" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "05568" "KCTN1" "keratoconus, type 1 (KTCN-1)" "AD" "148300" "" "" "" "00006" "2019-02-14 12:42:52" "00006" "2021-12-10 21:51:32" "05862" "kidney disease" "kidney disease" "" "" "" "" "" "00006" "2020-10-25 09:21:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "TNXB" "00169" "TNXB" "01301" "TNXB" "02585" "TNXB" "05039" ## Individuals ## Do not remove or alter this header ## ## Count = 85 "{{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}}" "00228665" "" "" "00155716" "1" "" "00006" "{PMID:van Kuilenburg 2018:2969193}, {DOI:van Kuilenburg 2018:10.1002/humu.23538}" "" "M" "" "Netherlands" "" "0" "" "" "" "son" "00260657" "" "" "" "1" "" "02284" "{PMID:Rymen 2019:31731524}, {DOI:Rymen 2019:10.3390/genes10110843}" "" "F" "yes" "Switzerland" "" "0" "" "" "" "patient" "00266303" "" "" "" "1" "" "02544" "" "" "F" "-" "Italy" "" "0" "" "" "" "Individual1" "00266304" "" "" "" "1" "" "02544" "" "" "F" "-" "Italy" "26y" "0" "" "" "" "individual2" "00275686" "" "" "" "1" "" "03524" "" "" "F" "no" "" ">40y" "0" "" "" "" "" "00294068" "" "" "" "34" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294069" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294071" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294072" "" "" "" "23" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294073" "" "" "" "93" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295989" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00296388" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00300632" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00305084" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00316075" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "" "" "" "France" "" "0" "" "" "" "BO7" "00316116" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "fetus" "" "" "France" "" "0" "" "" "" "K169" "00317979" "" "" "" "1" "" "00006" "{PMID:Hamada 2018:30256902}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Japan" "" "0" "" "" "" "Fam1Pat1" "00319497" "" "" "" "1" "" "00085" "{PMID:Zweers et al., 2005:15733269}" "The patient had normal TNX serum levels." "" "" "" "" "0" "" "" "" "" "00319498" "" "" "" "1" "" "00085" "{PMID:Demirdas et al., 2016:27582382}" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "Family XI" "00319499" "" "" "" "1" "" "00085" "{PMID:Demirdas et al., 2016:27582382}" "This patient was previously described in {PMID:Voermans et al., 2009:19557868}.The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "Family V" "00319500" "" "" "" "1" "" "00085" "{PMID:Micale et al., 2019:31775249}" "The patient carried a c.1150dupG variant and a pseudogene(TNXA)-derived 120bps deletion, likely the result of the formation of a chimeric TNXA/TNXB fusion gene. The technique used was the custom NGS Gene panel." "" "" "Italy" "" "0" "" "" "Italian" "Patient 2" "00319501" "" "" "" "1" "" "00085" "{PMID:Schalkwijk et al., 2001:11642233}" "This patient\'s parents were unavailable for study. The variant was incorrectly described as an insertion, rather than a duplication." "" "" "" "" "0" "" "" "" "Patient 4" "00319502" "" "" "" "1" "" "00085" "{PMID:Micale et al., 2019:31775249}" "The patient carried a c.8278C>T variant and a deletion including exons 5 and 6, generating a frameshift with the insertion of a premature stop codon. The exact start and end points of the deletion were uncertain. The technique used was the custom NGS Gene panel." "" "" "Italy" "" "0" "" "" "Italian" "Patient 1" "00319503" "" "" "" "1" "" "00085" "{PMID:Demirdas et al., 2016:27582382}" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "Family IX" "00319504" "" "" "" "1" "" "03713" "" "The testing laboratory (University of Nebraska Medical Center) describes this variant as being of Uncertain Clinical Significance.The status of patient\'s disease classification has been changed from EDS III to undiagnosed on the basis of further clinical tests - 3 May 2017. The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "white" "" "00319505" "" "" "" "1" "" "00085" "{PMID:Sakiyama et al., 2015:25772043}" "The patient had recurrent gastrointenstinal perforation.The technique used was the custom NGS Gene panel." "" "" "Japan" "" "0" "" "" "Japanese" "" "00319506" "" "" "" "1" "" "00085" "{PMID:Demirdas et al., 2016:27582382}" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "Family III" "00319507" "" "" "" "1" "" "00085" "{PMID:Demirdas et al., 2016:27582382}" "The patient carried a TNXB/TNXA fusion gene with a 30kb deletion encompassing CYP21A2 on the allele from Parent #2. The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "Family VIII" "00319508" "" "" "" "1" "" "00085" "{PMID:Tokhmafshan et al., 2020:31702543}" "" "" "" "" "" "0" "" "" "European (non-Finnish)" "" "00319509" "" "" "" "1" "" "00085" "{PMID:Schalkwijk et al., 2001:11642233}, {PMID:Voermans et al., 2007:17588758}, {PMID:Voermans et al., 2007:17702048}" "This patient\'s mother was deceased, but the patient\'s sister was heterozygous for the variant, with the maternal allele carrying the deletion" "" "" "" "" "0" "" "" "" "Patient 1" "00319510" "" "" "" "1" "" "00085" "{PMID:Schalkwijk et al., 2001:11642233}" "This patient\'s parents were unavailable for study." "" "" "" "" "0" "" "" "" "Patient 5" "00319511" "" "" "" "1" "" "00085" "{PMID:Demirdas et al., 2016:27582382}" "This patient was previously described as Patient 2 in {PMID 21959861:Hendriks et al., 2012}. The patient carried a TNXB/TNXA fusion gene from Parent#2 with a 30kb deletion encompassing CYP21A2. The fusion gene carried the described variants. The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "Family VII" "00319512" "" "" "" "1" "" "00085" "{PMID:Zweers et al., 2005:15733269}" "The patient had normal TNX serum levels.The variant is incorrectly described by the authors as 3583AG." "" "" "" "" "0" "" "" "" "" "00319513" "" "" "" "1" "" "00085" "{PMID:Tokhmafshan et al., 2020:31702543}" "" "" "" "" "" "0" "" "" "European (non-Finnish)" "" "00319514" "" "" "" "1" "" "00085" "{PMID:Mackenroth et al., 2016:26799614}" "The patient also harbours the COL1A1 variant c.4006-1G>A.The technique used was whole exome sequencing." "" "" "Germany" "" "0" "" "" "German" "" "00319515" "" "" "" "1" "" "00085" "{PMID:Gbadegesin et al., 2013:23620400}" "" "" "" "" "" "0" "" "" "white" "Family 2" "00319516" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2014:25326637}" "The technique used was whole genome sequencing." "" "" "" "" "0" "" "" "" "" "00319517" "" "" "" "1" "" "00085" "{PMID:Kaufman and Butler, 2016:28344932}" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00319518" "" "" "" "1" "" "00085" "{PMID:Tokhmafshan et al., 2020:31702543}" "" "" "" "" "" "0" "" "" "" "" "00319519" "" "" "" "1" "" "00085" "{PMID:Tokhmafshan et al., 2020:31702543}" "" "" "" "" "" "0" "" "" "European (non-Finnish)" "" "00319520" "" "" "" "1" "" "03718" "" "The patient\'s older affected sister also harbours the duplication sequence variant." "" "" "" "" "0" "" "" "" "" "00319521" "" "" "" "1" "" "00085" "{PMID:Wang et al., 2018:30115950}" "The variants cause susceptibility towards the phenotype, but are not confirmed to be pathogenic in isolation. The technique used was whole exome sequencing." "" "" "China" "" "0" "" "" "Han Chinese" "" "00319522" "" "" "" "1" "" "00085" "{PMID:Gbadegesin et al., 2013:23620400}" "The variant was described in the published account as ENST00000375244:c.9770C>TThe technique used was whole exome sequencing." "" "" "" "" "0" "" "" "white" "" "00319523" "" "" "" "1" "" "00085" "{PMID:Tokhmafshan et al., 2020:31702543}" "" "" "" "" "" "0" "" "" "South Asian" "" "00319524" "" "" "" "1" "" "03709" "" "Performed by Prevention Genetics.The proband\'s sister and daughter also harbour the same variant but are not definitively diagnosed as having EDS III." "" "" "England;Netherlands" "" "0" "" "" "English, Dutch" "" "00319525" "" "" "" "1" "" "03710" "" "" "" "" "Germany" "" "0" "" "" "German" "" "00319526" "" "" "" "1" "" "00085" "{PMID:Tokhmafshan et al., 2020:31702543}" "" "" "" "" "" "0" "" "" "European (non-Finnish)" "" "00319527" "" "" "" "1" "" "00085" "{PMID:Demirdas et al., 2016:27582382}" "This patient was previously described in {PMID:Schalkwijk et al., 2001:11642233} as Patient 2. There are two other siblings carrying the same variant and phenotype. The variants are TNXA-derived, probably due to the formation of a chimeric gene. The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "Family II" "00319528" "" "" "" "1" "" "00085" "{PMID:Demirdas et al., 2016:27582382}" "This family was previously described in {PMID:Voermans et al., 2009:19557868}. The patient carried a TNXB/TNXA fusion gene on the allele for Parent #1, causing a 30kb deletion encompassing CYP21A2. The fusion gene carried the described variants. The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "Family IV" "00319529" "" "" "" "1" "" "00085" "{PMID:Lao et al., 2019:31229653}" "26 patients with congenital adrenal hyperplasia showed evidence of the CAH-X CH-1 genotype, a chimeric TNXA/TNXB gene featuring the described variant. Up to 24 patients had a complete or partial clinical evaluation for EDS." "" "" "" "" "0" "" "" "" "" "00319530" "" "" "" "1" "" "00085" "{PMID:Zweers et al., 2005:15733269}" "The patient had normal TNX serum levels.The variant is incorrectly described by the authors as 12097CA.This is a common sequence variant which is unlikely to be disease-causing." "" "" "" "" "0" "" "" "" "" "00319531" "" "" "" "1" "" "00085" "{PMID:Morissette et al., 2015:26075496}" "The patient and his father carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. They showed some characteristics of hypermobile EDS.The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "Family 1: II-2" "00319532" "" "" "" "1" "" "00085" "{PMID:Morissette et al., 2015:26075496}" "The patient and her mother carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. They had several characteristics of hypermobile EDS. The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "Family 2: II-1" "00319533" "" "" "" "1" "" "00085" "{PMID:Morissette et al., 2015:26075496}" "The patient and her mother carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. They showed some characteristics of hypermobile EDS.The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "Family 3: II-1" "00319534" "" "" "" "1" "" "00085" "{PMID:Morissette et al., 2015:26075496}" "The patient and his father carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. They showed significant characteristics of hypermobile EDS.The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "Family 4: II-2" "00319535" "" "" "" "1" "" "00085" "{PMID:Morissette et al., 2015:26075496}" "The patient and her father carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. Both patients showed characteristics of hypermobile EDS, and the father showed no CAH phenotype. The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "Family 5: II-3" "00319536" "" "" "" "1" "" "00085" "{PMID:Morissette et al., 2015:26075496}" "The patient, her mother, and brother carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. The mother was a carrier for CAH, but did not display the phenotype. The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "Family 6: II-1" "00319537" "" "" "" "1" "" "00085" "{PMID:Morissette et al., 2015:26075496}" "The patient, her mother, and sister carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. The mother and sister were carriers for CAH, but did not display the phenotype.The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "Family 7:II-3" "00319538" "" "" "" "1" "" "00085" "{PMID:Chen et al., 2016:27297501}" "The patient is homozygous for a three variant cluster, c. 12218G>A, c.12514G>A, and c.12524G>A, which authors present as a novel chimeric form causing CAH and TNXB haploinsufficiency. The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "P1" "00319539" "" "" "" "1" "" "00085" "{PMID:Chen et al., 2016:27297501}" "The patient inherited a three variant cluster, c. 12218G>A, c.12514G>A, and c.12524G>A, which authors present as a novel chimeric form causing CAH and TNXB haploinsufficiency. The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "P2" "00319540" "" "" "" "1" "" "00085" "{PMID:Chen et al., 2016:27297501}" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "P3" "00319541" "" "" "" "1" "" "00085" "{PMID:Demirdas et al., 2016:27582382}" "This patient was previously described in {PMID21959861:Hendriks et al., 2012}. The patient carries a TNXB/TNXA fusion gene with a 30kb deletion encompassing CYP21A2 on the allele from Parent #1.The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "Family X" "00319542" "" "" "" "1" "" "00085" "{PMID:Lao et al., 2019:31229653}" "18 patients with congenital adrenal hyperplasia carried the CAH-X CH-2 genotype, a chimeric TNXA/TNXB gene carrying the described variants. Up to 16 patients had a complete or partial clinical evaluation for EDS." "" "" "" "" "0" "" "" "" "" "00319543" "" "" "" "1" "" "00085" "{PMID:Pénisson-Besnier et al., 2013:23768946}" "This patient\'s maternal allele carries a complex rearrangement, which was first described by {PMID9288108:Burch et al., 1997}." "" "" "" "" "0" "" "" "" "" "00319544" "" "" "" "1" "" "00085" "{PMID:Penisson-Besnier:23768946}" "The patient carried a TNXA/TNXB fusion gene with a 30kb deletion on one allele, and the c.12214C>T variant on the other allele. His father and brother were asymptomatic and heterozygous for only the substitution variant. Authors predict that the variant is only pathogenic when compound heterozygous with another null allele." "" "" "" "" "0" "" "" "" "" "00319545" "" "" "" "1" "" "00085" "{PMID:Tokhmafshan et al., 2020:31702543}" "" "" "" "" "" "0" "" "" "European (non-Finnish)" "" "00376129" "" "" "" "1" "" "00006" "contact me for details" "" "F" "yes" "(United States)" "" "0" "" "" "Italy" "private email" "00397593" "" "" "" "1" "" "04074" "" "" "F" "yes" "United States" "" "0" "" "" "Italy" "patient" "00413441" "" "" "" "1" "" "00006" "{PMID:Burch 1997:9288108}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00413442" "" "" "" "1" "" "00006" "{PMID:Schalkwijk 2001:11642233}" "3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "Pat2" "00413443" "" "" "" "1" "" "00006" "{PMID:Schalkwijk 2001:11642233}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "Pat3" "00413448" "" "" "" "1" "" "00006" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "" "" "0" "" "" "" "" "00413449" "" "" "" "1" "" "00006" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "" "" "0" "" "" "" "" "00414433" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP100" "00434896" "" "" "" "1" "" "04419" "{PMID:Fransen et al., 2021:33737726}" "34 candidate genes targeted from 787 independent keratoconus patients and 856 ethnically matched controls, including results from unpublished studies and literature search. 7 patients with EDS gene variants." "?" "no" "Belgium" "" "" "" "" "" "4" "00435339" "" "" "" "1" "" "04335" "" "" "F" "" "Japan" "" "" "" "" "" "Patient 1" "00435340" "" "" "" "1" "" "04335" "" "" "M" "" "Japan" "" "" "" "" "" "Patient 2" "00435341" "" "" "" "1" "" "04335" "" "" "M" "" "Japan" "" "" "" "" "" "Patient 3" "00435342" "" "" "" "1" "" "04335" "" "" "F" "" "Japan" "" "" "" "" "" "Patient 4" "00435344" "" "" "" "1" "" "04335" "" "" "F" "" "Japan" "" "" "" "" "" "Patient 5" "00435346" "" "" "" "1" "" "04335" "" "" "F" "" "China" "" "" "" "" "" "Patient 6" "00435348" "" "" "" "1" "" "04335" "" "" "M" "" "Japan" "" "" "" "" "" "Patient 7" "00435349" "" "" "" "1" "" "04335" "" "" "F" "" "Japan" "" "" "" "" "" "Patient 8" "00435351" "" "" "" "1" "" "04335" "" "" "F" "" "Japan" "" "" "" "" "" "Patient 9" "00448368" "" "" "" "1" "" "00006" "contact me for details" "" "M" "no" "(Slovenia)" ">16y" "0" "" "" "white" "private email" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 112 "{{individualid}}" "{{diseaseid}}" "00228665" "00422" "00260657" "02585" "00266303" "02585" "00266304" "02585" "00275686" "02585" "00294068" "00198" "00294069" "00198" "00294071" "00198" "00294072" "00198" "00294073" "00198" "00295989" "00198" "00296388" "00198" "00300632" "00198" "00305084" "00198" "00316075" "05862" "00316116" "05342" "00317979" "04217" "00319497" "00169" "00319498" "00169" "00319498" "02585" "00319499" "00169" "00319499" "02585" "00319500" "00169" "00319500" "02585" "00319501" "00169" "00319502" "00169" "00319502" "02585" "00319503" "00169" "00319503" "02585" "00319504" "00169" "00319504" "01301" "00319505" "00169" "00319505" "02585" "00319506" "00169" "00319506" "02585" "00319507" "00169" "00319507" "02585" "00319508" "05039" "00319509" "00169" "00319510" "00169" "00319511" "00169" "00319511" "02585" "00319512" "00169" "00319512" "01301" "00319513" "05039" "00319514" "00169" "00319515" "05039" "00319516" "00169" "00319516" "01301" "00319517" "00169" "00319517" "02585" "00319518" "05039" "00319519" "05039" "00319520" "00169" "00319520" "01301" "00319521" "00198" "00319522" "05039" "00319523" "05039" "00319524" "00169" "00319524" "01301" "00319525" "00169" "00319525" "01301" "00319526" "05039" "00319527" "00169" "00319527" "02585" "00319528" "00169" "00319528" "02585" "00319529" "00169" "00319529" "01629" "00319530" "00169" "00319530" "01301" "00319531" "01629" "00319532" "01629" "00319533" "01629" "00319534" "01629" "00319535" "01629" "00319536" "01629" "00319537" "01629" "00319538" "00169" "00319538" "01629" "00319539" "00169" "00319539" "01629" "00319540" "00169" "00319540" "01629" "00319541" "00169" "00319541" "02585" "00319542" "00169" "00319542" "01629" "00319543" "02585" "00319544" "02585" "00319545" "05039" "00376129" "00169" "00397593" "00169" "00397593" "05104" "00413441" "00198" "00413442" "00169" "00413443" "00169" "00413448" "00169" "00413449" "00169" "00414433" "00198" "00434896" "00169" "00434896" "05568" "00435339" "02585" "00435340" "02585" "00435341" "02585" "00435342" "02585" "00435344" "02585" "00435346" "02585" "00435348" "02585" "00435349" "02585" "00435351" "02585" "00448368" "00169" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00169, 00198, 00422, 01301, 01629, 02585, 04217, 05039, 05104, 05342, 05568, 05862 ## Count = 35 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/enzyme_act}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{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}}" "0000172603" "00422" "00228665" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., born with apparent cortical blindness, subsequently exhibited severe\r\ndevelopmental delay; 2y-severe spasticity, hyperreflexia felt secondary to intrauterine stroke; multiple brain MRIs delay in myelination; 18y-spastic paraparesis, mild intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "DPDD" "" "" "0000199202" "02585" "00260657" "02284" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000204079" "02585" "00266303" "02544" "Familial" "" "soft and hyperelastic skin, generalized joint hypermobility and related musculoskeletal complications, chronic constipation, showed progressive finger contractures and shortened metatarsals" "" "" "" "" "" "" "" "" "" "" "" "" "" "classic-like EDS" "classic-like EDS" "" "0000204080" "02585" "00266304" "02544" "-" "26y" "soft and hyperelastic skin, generalized joint hypermobility and related musculoskeletal complications, and chronic constipation" "" "" "" "" "" "" "" "" "" "" "" "" "" "classic-like EDS" "classic-like EDS" "" "0000223456" "00198" "00295989" "01164" "Unknown" "" "Abnormality of the cerebral vasculature (HP:0100659); Intracranial hemorrhage (HP:0002170); Vasculitis (HP:0002633)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223802" "00198" "00296388" "01164" "Unknown" "" "Abnormality of the atrial septum (HP:0011994); Abnormality of the aorta (HP:0001679); Secundum atrial septal defect (HP:0001684); Abnormality of connective tissue (HP:0003549); Dilatation of the ascending aorta (HP:0005111)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000227943" "00198" "00300632" "01164" "Unknown" "" "Muscular hypotonia (HP:0001252); Poor suck (HP:0002033); Facial hypotonia (HP:0000297); Oral motor hypotonia (HP:0030190); Limb-girdle muscle weakness (HP:0003325); Gowers sign (HP:0003391); Scapular winging (HP:0003691); Proximal muscle weakness (HP:0003701); Pelvic girdle muscle weakness (HP:0003749)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239822" "05862" "00316075" "00006" "Unknown" "" "preauricular pit, deafness" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239863" "05342" "00316116" "00006" "Unknown" "" "unilateral multicystic dysplasia; unilateral kidney agenesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "unilateral kidney agenesis" "" "0000241763" "04217" "00317979" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "West syndrome" "" "0000241907" "00169" "00319501" "00085" "-" "" "Originally described as EDS Autosomal Recessive," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241908" "00169" "00319509" "00085" "-" "" "Originally described as EDS Autosomal Recessive," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241909" "00169" "00319510" "00085" "-" "" "Originally described as EDS Autosomal Recessive," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241910" "00169" "00319514" "00085" "-" "" "osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241911" "00198" "00319521" "00085" "-" "" "Artery dissections," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241912" "02585" "00319543" "00085" "-" "" "TNXB deficiency," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241913" "02585" "00319544" "00085" "-" "" "TNXB deficiency," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000271341" "00169" "00376129" "00006" "Unknown" "16y" "presents with a severe form of hypermobile Ehlers Danlos syndrome" "" "15y" "" "" "" "" "26y" "" "" "" "" "" "" "" "Ehlers Danlos syndrome" "" "0000290717" "00169" "00397593" "04074" "Paternal, Y-linked" "26y" "Easy bruising \r\nVelvety skin\r\nElastic like skin\r\nChronic musclskeletal pain\r\nHypermobile joints" "" "07y" "abnormal" "" "" "" "27y" "" "" "" "" "" "" "27y" "Hypermobile EDS" "" "0000305415" "00198" "00413441" "00006" "Unknown" "26y" "see paper; ..., congenital adrenal hyperplasia, 21-hydroxylase deficiency, hyperextensible skin, hyperextensible joints, easy bruising, poor wound healing" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000305416" "00169" "00413443" "00006" "Familial, autosomal recessive" "" "congenital adrenal hyperplasia, Ehlers-Danlos syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000305421" "00169" "00413448" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Ehlers-Danlos syndrome" "" "0000305422" "00169" "00413449" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Ehlers-Danlos syndrome" "" "0000306268" "00198" "00414433" "00000" "Unknown" "12y" "Finnish type Amyloidosis;Alport Syndrome;Vesicoureteral Reflux 8" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325140" "00169" "00434896" "04419" "Unknown" "" "Hypermobility, fragile skin, easy bruising." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325141" "05568" "00434896" "04419" "Unknown" "" "Diagnosis was based on slit-lamp biomicroscopy and tomographic evaluation of the cornea." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325535" "02585" "00435339" "04335" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325536" "02585" "00435340" "04335" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325537" "02585" "00435341" "04335" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325538" "02585" "00435342" "04335" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325541" "02585" "00435344" "04335" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325543" "02585" "00435346" "04335" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325545" "02585" "00435348" "04335" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325546" "02585" "00435349" "04335" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325547" "02585" "00435351" "04335" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 85 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000229755" "00228665" "1" "00006" "00006" "2019-03-23 16:29:58" "00006" "2019-03-23 16:40:51" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000261762" "00260657" "1" "02284" "02284" "2019-08-06 15:07:09" "" "" "PCRq;SEQ" "RNA" "blood, dermal fibroblasts" "" "0000267426" "00266303" "1" "02544" "02544" "2019-10-21 15:55:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000267427" "00266304" "1" "02544" "02544" "2019-10-21 16:08:25" "" "" "SEQ-NG" "DNA" "blood" "" "0000276843" "00275686" "1" "03524" "03524" "2020-01-14 15:46:17" "" "" "SEQ-NG" "DNA" "" "" "0000295236" "00294068" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295237" "00294069" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295239" "00294071" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295240" "00294072" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295241" "00294073" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297160" "00295989" "1" "01164" "01164" "2020-04-01 11:00:40" "" "" "SEQ-NG-S" "DNA" "" "" "0000297499" "00296388" "1" "01164" "01164" "2020-04-06 09:47:55" "" "" "SEQ-NG-S" "DNA" "" "" "0000301753" "00300632" "1" "01164" "01164" "2020-05-04 10:19:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000306213" "00305084" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000317257" "00316075" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317298" "00316116" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000319161" "00317979" "1" "00006" "00006" "2020-11-05 12:31:45" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000320678" "00319497" "1" "00085" "00085" "2017-04-03 09:15:53" "00085" "2017-04-03 09:19:03" "PCR;SEQ" "DNA" "" "" "0000320679" "00319498" "1" "00085" "00085" "2020-06-26 13:48:30" "" "" "SEQ-NG;MLPA;SEQ" "DNA" "" "" "0000320680" "00319499" "1" "00085" "00085" "2020-06-26 12:09:53" "00085" "2020-06-26 13:42:39" "SEQ-NG;SEQ" "DNA" "" "" "0000320681" "00319500" "1" "00085" "00085" "2020-06-24 15:46:38" "" "" "SEQ-NG;MLPA;PCR;SEQ" "DNA" "" "" "0000320682" "00319501" "1" "00085" "00085" "2014-01-14 16:52:10" "00085" "2014-01-15 15:36:43" "PCR;SEQ" "DNA" "" "" "0000320683" "00319502" "1" "00085" "00085" "2020-06-24 15:39:17" "00085" "2020-06-24 15:40:47" "SEQ-NG;MLPA;PCR;SEQ" "DNA" "" "" "0000320684" "00319503" "1" "00085" "00085" "2020-06-26 12:30:45" "" "" "SEQ-NG;MLPA;SEQ" "DNA" "" "" "0000320685" "00319504" "1" "03713" "00085" "2015-09-28 17:22:01" "00085" "2017-05-03 09:49:09" "SEQ-NG" "DNA" "" "" "0000320686" "00319505" "1" "00085" "00085" "2015-06-09 11:32:01" "00085" "2015-06-09 12:52:11" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000320687" "00319506" "1" "00085" "00085" "2020-06-26 11:55:28" "00085" "2020-06-26 12:03:55" "SEQ-NG;MLPA;SEQ" "DNA" "" "" "0000320688" "00319507" "1" "00085" "00085" "2020-06-26 12:25:58" "" "" "SEQ-NG;MLPA;SEQ" "DNA" "" "" "0000320689" "00319508" "1" "00085" "00085" "2020-07-27 14:17:02" "" "" "PCR;SEQ" "DNA" "" "" "0000320690" "00319509" "1" "00085" "00085" "2014-01-14 16:40:54" "00085" "2015-04-15 08:29:45" "PCR;SEQ" "DNA" "" "" "0000320691" "00319510" "1" "00085" "00085" "2014-01-14 16:53:53" "" "" "PCR;SEQ" "DNA" "" "" "0000320692" "00319511" "1" "00085" "00085" "2020-06-26 12:17:53" "00085" "2020-06-26 12:18:38" "SEQ-NG;MLPA;SEQ" "DNA" "" "" "0000320693" "00319512" "1" "00085" "00085" "2017-04-03 09:50:09" "00085" "2017-04-03 09:51:39" "PCR;SEQ" "DNA" "" "" "0000320694" "00319513" "1" "00085" "00085" "2020-07-27 11:04:45" "" "" "PCR;SEQ" "DNA" "" "" "0000320695" "00319514" "1" "00085" "00085" "2016-02-16 09:24:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000320696" "00319515" "1" "00085" "00085" "2015-06-12 16:01:16" "" "" "PCR;SEQ" "DNA" "" "" "0000320697" "00319516" "1" "00085" "00085" "2017-04-04 15:10:20" "" "" "PCR;SEQ;SEQ-NG" "DNA" "" "" "0000320698" "00319517" "1" "00085" "00085" "2017-04-04 15:15:19" "" "" "SEQ-NG" "DNA" "" "" "0000320699" "00319518" "1" "00085" "00085" "2020-07-27 16:04:34" "" "" "PCR;SEQ" "DNA" "" "" "0000320700" "00319519" "1" "00085" "00085" "2020-07-27 14:22:08" "" "" "PCR;SEQ" "DNA" "" "" "0000320701" "00319520" "1" "03718" "00085" "2017-11-30 10:29:48" "00085" "2017-12-01 07:58:08" "PCR;SEQ" "DNA" "" "" "0000320702" "00319521" "1" "00085" "00085" "2020-06-25 14:57:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000320703" "00319522" "1" "00085" "00085" "2015-06-12 16:07:13" "00085" "2015-06-12 16:08:49" "PCR;SEQ;SEQ-NG" "DNA" "" "" "0000320704" "00319523" "1" "00085" "00085" "2020-07-27 16:10:15" "" "" "PCR;SEQ" "DNA" "" "" "0000320705" "00319524" "1" "03709" "03709" "2015-02-10 18:33:07" "00085" "2015-07-28 08:55:39" "SEQ" "DNA" "" "" "0000320706" "00319525" "1" "03710" "00085" "2015-03-11 09:32:51" "" "" "PCR;SEQ" "DNA" "" "" "0000320707" "00319526" "1" "00085" "00085" "2020-07-27 14:13:56" "" "" "PCR;SEQ" "DNA" "" "" "0000320708" "00319527" "1" "00085" "00085" "2020-06-26 11:21:32" "00085" "2020-06-26 12:05:32" "SEQ-NG;MLPA;SEQ" "DNA" "" "" "0000320709" "00319528" "1" "00085" "00085" "2020-06-26 12:01:35" "00085" "2020-06-26 12:20:17" "SEQ-NG;MLPA;SEQ" "DNA" "" "" "0000320710" "00319529" "1" "00085" "00085" "2020-06-29 17:19:59" "00085" "2020-06-29 17:27:39" "PCR;SEQ" "DNA" "" "" "0000320711" "00319530" "1" "00085" "00085" "2017-04-03 09:34:59" "00085" "2017-04-03 09:43:54" "PCR;SEQ" "DNA" "" "" "0000320712" "00319531" "1" "00085" "00085" "2020-06-23 12:24:52" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000320713" "00319532" "1" "00085" "00085" "2020-06-23 12:29:48" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000320714" "00319533" "1" "00085" "00085" "2020-06-23 12:33:12" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000320715" "00319534" "1" "00085" "00085" "2020-06-23 12:38:34" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000320716" "00319535" "1" "00085" "00085" "2020-06-23 12:42:18" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000320717" "00319536" "1" "00085" "00085" "2020-06-23 12:55:22" "00085" "2020-06-23 12:55:36" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000320718" "00319537" "1" "00085" "00085" "2020-06-23 13:05:47" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000320719" "00319538" "1" "00085" "00085" "2020-06-23 17:07:33" "00085" "2020-06-23 17:10:12" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000320720" "00319539" "1" "00085" "00085" "2020-06-23 17:16:03" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000320721" "00319540" "1" "00085" "00085" "2020-06-23 17:38:49" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000320722" "00319541" "1" "00085" "00085" "2020-06-26 13:40:55" "00085" "2020-06-26 13:41:55" "SEQ-NG;SEQ" "DNA" "" "" "0000320723" "00319542" "1" "00085" "00085" "2020-06-29 17:22:38" "00085" "2020-06-29 17:28:03" "PCR;SEQ" "DNA" "" "" "0000320724" "00319543" "1" "00085" "00085" "2014-01-14 16:59:20" "00085" "2014-02-11 10:40:27" "SEQ" "DNA" "" "" "0000320725" "00319544" "1" "00085" "00085" "2020-06-26 16:52:15" "" "" "SEQ" "DNA" "" "" "0000320726" "00319545" "1" "00085" "00085" "2020-07-27 10:43:36" "" "" "PCR" "DNA" "" "" "0000377325" "00376129" "1" "00006" "00006" "2021-05-15 20:05:58" "" "" "PCRq;SEQ;SEQ-NG" "DNA" "Blood" "" "0000398831" "00397593" "1" "04074" "04074" "2021-12-27 03:18:44" "" "" "SEQ;SEQ-NG" "DNA;protein" "" "62 genes tested" "0000414718" "00413441" "1" "00006" "00006" "2022-07-18 15:50:07" "" "" "PCRdd" "DNA" "" "" "0000414719" "00413442" "1" "00006" "00006" "2022-07-18 16:30:23" "" "" "PCR" "DNA" "" "" "0000414720" "00413443" "1" "00006" "00006" "2022-07-18 16:34:55" "" "" "PCR" "DNA" "" "" "0000414725" "00413448" "1" "00006" "00006" "2022-07-18 17:04:47" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000414726" "00413449" "1" "00006" "00006" "2022-07-18 17:04:47" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000415713" "00414433" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000436369" "00434896" "1" "04419" "04419" "2023-04-11 03:30:31" "" "" "MIP;SEQ-NG-I" "DNA" "Peripheral blood" "WES analysis on 22 families, 1-5 individuals/family" "0000436819" "00435339" "1" "04335" "04335" "2023-07-14 02:46:14" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000436820" "00435340" "1" "04335" "04335" "2023-07-14 02:53:30" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000436821" "00435341" "1" "04335" "04335" "2023-07-14 02:57:34" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000436822" "00435342" "1" "04335" "04335" "2023-07-14 03:05:16" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000436824" "00435344" "1" "04335" "04335" "2023-07-14 03:26:50" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000436826" "00435346" "1" "04335" "04335" "2023-07-14 03:32:18" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000436828" "00435348" "1" "04335" "04335" "2023-07-14 03:44:22" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000436829" "00435349" "1" "04335" "04335" "2023-07-14 03:49:48" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000436831" "00435351" "1" "04335" "04335" "2023-07-14 03:56:01" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000449946" "00448368" "1" "00006" "00006" "2021-12-29 21:02:58" "" "" "SEQ-NG" "DNA" "blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 63 "{{screeningid}}" "{{geneid}}" "0000229755" "DPYD" "0000261762" "TNXB" "0000267426" "TNXB" "0000267427" "TNXB" "0000317257" "TNXB" "0000317298" "TNXB" "0000319161" "PHACTR1" "0000320678" "TNXB" "0000320679" "TNXB" "0000320680" "TNXB" "0000320681" "TNXB" "0000320682" "TNXB" "0000320683" "TNXB" "0000320684" "TNXB" "0000320685" "TNXB" "0000320686" "TNXB" "0000320687" "TNXB" "0000320688" "TNXB" "0000320689" "TNXB" "0000320690" "TNXB" "0000320691" "TNXB" "0000320692" "TNXB" "0000320693" "TNXB" "0000320694" "TNXB" "0000320695" "TNXB" "0000320696" "TNXB" "0000320697" "TNXB" "0000320698" "TNXB" "0000320699" "TNXB" "0000320700" "TNXB" "0000320701" "TNXB" "0000320702" "TNXB" "0000320703" "TNXB" "0000320704" "TNXB" "0000320705" "TNXB" "0000320706" "TNXB" "0000320707" "TNXB" "0000320708" "TNXB" "0000320709" "TNXB" "0000320710" "TNXB" "0000320711" "TNXB" "0000320712" "TNXB" "0000320713" "TNXB" "0000320714" "TNXB" "0000320715" "TNXB" "0000320716" "TNXB" "0000320717" "TNXB" "0000320718" "TNXB" "0000320719" "TNXB" "0000320720" "TNXB" "0000320721" "TNXB" "0000320722" "TNXB" "0000320723" "TNXB" "0000320724" "TNXB" "0000320725" "TNXB" "0000320726" "TNXB" "0000398831" "TNXB" "0000414718" "TNXB" "0000414719" "TNXB" "0000414720" "TNXB" "0000415713" "GSN" "0000436369" "TNXB" "0000449946" "TNXB" ## 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 = 726 "{{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}}" "0000248301" "0" "10" "6" "32017105" "32017105" "subst" "0.0577355" "02325" "TNXB_000063" "g.32017105A>G" "" "" "" "TNXB(NM_019105.8):c.9693T>C (p.H3231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32049328A>G" "" "benign" "" "0000250036" "0" "10" "6" "32017105" "32017105" "subst" "0.0577355" "02329" "TNXB_000063" "g.32017105A>G" "" "" "" "TNXB(NM_019105.8):c.9693T>C (p.H3231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32049328A>G" "" "benign" "" "0000250100" "0" "30" "6" "32011644" "32011644" "subst" "0.138113" "02329" "TNXB_000183" "g.32011644A>G" "" "" "" "TNXB(NM_019105.8):c.11406T>C (p.D3802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32043867A>G" "" "likely benign" "" "0000250101" "0" "30" "6" "32012333" "32012333" "subst" "0.223076" "02329" "TNXB_000048" "g.32012333A>T" "" "" "" "TNXB(NM_019105.8):c.11082T>A (p.T3694=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32044556A>T" "" "likely benign" "" "0000250102" "0" "10" "6" "32029226" "32029226" "subst" "0.69114" "02329" "TNXB_000102" "g.32029226A>G" "" "" "" "TNXB(NM_019105.8):c.7440T>C (p.Y2480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32061449A>G" "" "benign" "" "0000250136" "0" "10" "6" "32032756" "32032756" "subst" "0.00673102" "02329" "TNXB_000115" "g.32032756A>T" "" "" "" "TNXB(NM_019105.8):c.6683T>A (p.F2228Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32064979A>T" "" "benign" "" "0000250158" "0" "10" "6" "32021362" "32021362" "subst" "0.00614611" "02329" "TNXB_000081" "g.32021362A>G" "" "" "" "TNXB(NM_019105.8):c.8588T>C (p.M2863T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32053585A>G" "" "benign" "" "0000250201" "0" "10" "6" "32009301" "32009301" "subst" "0" "02329" "TNXB_000278" "g.32009301A>G" "" "" "" "TNXB(NM_019105.8):c.12628-74T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041524A>G" "" "benign" "" "0000250202" "0" "10" "6" "32009456" "32009456" "subst" "0" "02329" "TNXB_000284" "g.32009456A>G" "" "" "" "TNXB(NM_019105.8):c.12627+92T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041679A>G" "" "benign" "" "0000250203" "0" "10" "6" "32010189" "32010189" "subst" "7.01731E-5" "02329" "TNXB_000290" "g.32010189A>C" "" "" "" "TNXB(NM_019105.8):c.12204+43T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32042412A>C" "" "benign" "" "0000250204" "0" "10" "6" "32011358" "32011358" "subst" "0.592441" "02329" "TNXB_000182" "g.32011358A>G" "" "" "" "TNXB(NM_019105.8):c.11525-25T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32043581A>G" "" "benign" "" "0000250205" "0" "10" "6" "32011678" "32011678" "subst" "0.0140579" "02329" "TNXB_000308" "g.32011678A>G" "" "" "" "TNXB(NM_019105.8):c.11381-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32043901A>G" "" "benign" "" "0000250206" "0" "10" "6" "32011714" "32011714" "subst" "0.412688" "02329" "TNXB_000184" "g.32011714A>G" "" "" "" "TNXB(NM_019105.8):c.11381-45T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32043937A>G" "" "benign" "" "0000250207" "0" "10" "6" "32011961" "32011961" "subst" "0" "02329" "TNXB_000043" "g.32011961A>G" "" "" "" "TNXB(NM_019105.8):c.11258-55T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32044184A>G" "" "benign" "" "0000250208" "0" "10" "6" "32015796" "32015796" "subst" "0.0344066" "02329" "TNXB_000185" "g.32015796A>G" "" "" "" "TNXB(NM_019105.8):c.10040-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32048019A>G" "" "benign" "" "0000250288" "0" "30" "6" "32041491" "32041491" "subst" "8.31255E-6" "02329" "TNXB_000138" "g.32041491A>G" "" "" "" "TNXB(NM_019105.8):c.4614T>C (p.Y1538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32073714A>G" "" "likely benign" "" "0000250350" "0" "30" "6" "32036721" "32036721" "subst" "5.80701E-5" "02329" "TNXB_000125" "g.32036721A>G" "" "" "" "TNXB(NM_019105.8):c.5780T>C (p.I1927T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32068944A>G" "" "likely benign" "" "0000250354" "0" "30" "6" "32024374" "32024374" "subst" "0.00997977" "02329" "TNXB_000084" "g.32024374A>G" "" "" "" "TNXB(NM_019105.8):c.8132T>C (p.I2711T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32056597A>G" "" "likely benign" "" "0000250435" "0" "30" "6" "32009539" "32009539" "subst" "0" "02329" "TNXB_000181" "g.32009539A>C" "" "" "" "TNXB(NM_019105.8):c.12627+9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041762A>C" "" "likely benign" "" "0000250436" "0" "30" "6" "32011920" "32011920" "subst" "0.000688871" "02329" "TNXB_000041" "g.32011920A>G" "" "" "" "TNXB(NM_019105.8):c.11258-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32044143A>G" "" "likely benign" "" "0000267242" "0" "30" "6" "32008924" "32008924" "subst" "0.0250359" "02325" "CYP21A2_000079" "g.32008924G>A" "" "" "" "CYP21A2(NM_000500.9):c.*13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041147G>A" "" "likely benign" "" "0000267243" "0" "10" "6" "32006314" "32006314" "subst" "0" "02325" "CYP21A2_000097" "g.32006314C>T" "" "" "" "CYP21A2(NM_000500.9):c.115C>T (p.H39Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32038537C>T" "" "benign" "" "0000267244" "0" "10" "6" "32006334" "32006334" "subst" "0" "02325" "CYP21A2_000098" "g.32006334C>A" "" "" "" "CYP21A2(NM_000500.9):c.135C>A (p.L45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32038557C>A" "" "benign" "" "0000267246" "0" "10" "6" "32006858" "32006858" "subst" "0.636295" "02325" "CYP21A2_000018" "g.32006858C>A" "" "" "" "CYP21A2(NM_000500.9):c.293-13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32039081C>A" "" "benign" "" "0000267247" "0" "30" "6" "32007849" "32007849" "subst" "0.129387" "02325" "CYP21A2_000001" "g.32007849G>C" "" "" "" "CYP21A2(NM_000500.9):c.806G>C (p.S269T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040072G>C" "" "likely benign" "" "0000311970" "0" "30" "6" "32057149" "32057149" "subst" "0.000438549" "02325" "TNXB_000158" "g.32057149C>T" "" "" "" "TNXB(NM_001365276.2):c.2366G>A (p.(Gly789Glu)), TNXB(NM_019105.8):c.2366G>A (p.G789E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32089372C>T" "" "likely benign" "" "0000311971" "0" "50" "6" "32037906" "32037906" "subst" "0" "02325" "TNXB_000131" "g.32037906G>C" "" "" "" "TNXB(NM_019105.8):c.5276C>G (p.T1759R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32070129G>C" "" "VUS" "" "0000311972" "0" "10" "6" "32026107" "32026107" "subst" "0.719808" "02325" "TNXB_000098" "g.32026107C>T" "" "" "" "TNXB(NM_019105.8):c.7553G>A (p.G2518E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32058330C>T" "" "benign" "" "0000313337" "0" "10" "6" "32008963" "32008963" "subst" "0.550429" "02329" "CYP21A2_000055" "g.32008963C>T" "" "" "" "TNXB(NM_019105.8):c.*163G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041186C>T" "" "benign" "" "0000313338" "0" "30" "6" "32015793" "32015793" "subst" "0.00108263" "02329" "TNXB_000040" "g.32015793G>A" "" "" "" "TNXB(NM_019105.8):c.10040-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32048016G>A" "" "likely benign" "" "0000313339" "0" "30" "6" "32013122" "32013122" "subst" "0.00985007" "02329" "TNXB_000060" "g.32013122G>T" "" "" "" "TNXB(NM_019105.8):c.10601-19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32045345G>T" "" "likely benign" "" "0000313340" "0" "30" "6" "32013037" "32013037" "subst" "0.0232457" "02329" "TNXB_000059" "g.32013037C>T" "" "" "" "TNXB(NM_019105.6):c.10667G>A (p.(Arg3556His)), TNXB(NM_019105.8):c.10667G>A (p.R3556H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32045260C>T" "" "likely benign" "" "0000313341" "0" "30" "6" "32013033" "32013033" "subst" "0" "02329" "TNXB_000058" "g.32013033T>C" "" "" "" "TNXB(NM_019105.6):c.10671A>G (p.(=)), TNXB(NM_019105.8):c.10671A>G (p.L3557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32045256T>C" "" "likely benign" "" "0000313342" "0" "30" "6" "32012997" "32012997" "subst" "0" "02329" "TNXB_000057" "g.32012997G>A" "" "" "" "TNXB(NM_019105.8):c.10707C>T (p.S3569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32045220G>A" "" "likely benign" "" "0000313343" "0" "30" "6" "32012985" "32012985" "subst" "0" "02329" "TNXB_000056" "g.32012985C>T" "" "" "" "TNXB(NM_019105.8):c.10719G>A (p.S3573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32045208C>T" "" "likely benign" "" "0000313344" "0" "30" "6" "32065869" "32065869" "subst" "4.0988E-6" "02329" "TNXB_000178" "g.32065869G>T" "" "" "" "TNXB(NM_019105.8):c.107C>A (p.A36D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32098092G>T" "" "likely benign" "" "0000313345" "0" "30" "6" "32064547" "32064547" "subst" "0" "02329" "TNXB_000170" "g.32064547G>C" "" "" "" "TNXB(NM_019105.8):c.1083C>G (p.P361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32096770G>C" "" "likely benign" "" "0000313346" "0" "30" "6" "32012854" "32012854" "subst" "0" "02329" "TNXB_000055" "g.32012854G>C" "" "" "" "TNXB(NM_019105.8):c.10850C>G (p.P3617R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32045077G>C" "" "likely benign" "" "0000313347" "0" "10" "6" "32012755" "32012755" "subst" "0.102869" "02329" "TNXB_000053" "g.32012755G>A" "" "" "" "TNXB(NM_019105.8):c.10921+28C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32044978G>A" "" "benign" "" "0000313348" "0" "10" "6" "32012509" "32012509" "subst" "0.000439192" "02329" "TNXB_000050" "g.32012509G>A" "" "" "" "TNXB(NM_019105.8):c.10922-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32044732G>A" "" "benign" "" "0000313349" "0" "10" "6" "32012575" "32012575" "subst" "0" "02329" "TNXB_000051" "g.32012575C>G" "" "" "" "TNXB(NM_019105.8):c.10922-82G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32044798C>G" "" "benign" "" "0000313350" "0" "10" "6" "32012587" "32012587" "subst" "0" "02329" "TNXB_000052" "g.32012587C>T" "" "" "" "TNXB(NM_019105.8):c.10922-94G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32044810C>T" "" "benign" "" "0000313351" "0" "30" "6" "32064538" "32064538" "subst" "0" "02329" "TNXB_000169" "g.32064538T>A" "" "" "" "TNXB(NM_019105.8):c.1092A>T (p.T364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32096761T>A" "" "likely benign" "" "0000313352" "0" "50" "6" "32012359" "32012359" "subst" "0.0323759" "02329" "TNXB_000049" "g.32012359G>C" "" "" "" "TNXB(NM_019105.8):c.11056C>G (p.R3686G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32044582G>C" "" "VUS" "" "0000313353" "0" "30" "6" "32012303" "32012303" "subst" "0.000931253" "02329" "TNXB_000047" "g.32012303C>T" "" "" "" "TNXB(NM_019105.8):c.11112G>A (p.Q3704=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32044526C>T" "" "likely benign" "" "0000313354" "0" "30" "6" "32012279" "32012279" "subst" "0.0605978" "02329" "TNXB_000046" "g.32012279C>T" "" "" "" "TNXB(NM_019105.8):c.11136G>A (p.T3712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32044502C>T" "" "likely benign" "" "0000313355" "0" "50" "6" "32012260" "32012260" "subst" "0.013266" "02329" "TNXB_000004" "g.32012260G>A" "" "" "" "TNXB(NM_019105.8):c.11155C>T (p.R3719W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32044483G>A" "" "VUS" "" "0000313356" "0" "30" "6" "32012254" "32012254" "subst" "0" "02329" "TNXB_000044" "g.32012254G>A" "" "" "" "TNXB(NM_019105.8):c.11161C>T (p.L3721=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32044477G>A" "" "likely benign" "" "0000313357" "0" "10" "6" "32011954" "32011954" "subst" "0.0146788" "02329" "TNXB_000042" "g.32011954T>C" "" "" "" "TNXB(NM_019105.8):c.11258-48A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32044177T>C" "" "benign" "" "0000313358" "0" "90" "6" "32065869" "32065869" "del" "0" "02329" "TNXB_000177" "g.32065869del" "" "" "" "TNXB(NM_019105.8):c.112delC (p.R38Gfs*66)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32098092del" "" "pathogenic" "" "0000313359" "0" "90" "6" "32011499" "32011618" "del" "0" "02329" "TNXB_000025" "g.32011499_32011618del" "" "" "" "TNXB(NM_019105.8):c.11435_11524+30del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32043722_32043841del" "" "pathogenic" "" "0000313360" "0" "50" "6" "32011340" "32011351" "del" "0" "02329" "TNXB_000305" "g.32011340_32011351del" "" "" "" "TNXB(NM_019105.8):c.11525-14_11525-3delTCCCCTTCCCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32043563_32043574del" "" "VUS" "" "0000313361" "0" "10" "6" "32011421" "32011421" "subst" "0" "02329" "TNXB_000306" "g.32011421C>T" "" "" "" "TNXB(NM_019105.8):c.11525-88G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32043644C>T" "" "benign" "" "0000313362" "0" "50" "6" "32011325" "32011325" "subst" "0.00452979" "02329" "TNXB_000304" "g.32011325C>T" "" "" "" "TNXB(NM_019105.8):c.11533G>A (p.G3845S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32043548C>T" "" "VUS" "" "0000313363" "0" "30" "6" "32011293" "32011293" "subst" "0" "02329" "TNXB_000303" "g.32011293G>A" "" "" "" "TNXB(NM_019105.8):c.11565C>T (p.T3855=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32043516G>A" "" "likely benign" "" "0000313364" "0" "30" "6" "32011248" "32011248" "subst" "0.514995" "02329" "TNXB_000302" "g.32011248C>T" "" "" "" "TNXB(NM_019105.8):c.11610G>A (p.V3870=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32043471C>T" "" "likely benign" "" "0000313365" "0" "30" "6" "32011235" "32011235" "subst" "0.517115" "02329" "TNXB_000301" "g.32011235C>T" "" "" "" "TNXB(NM_019105.8):c.11623G>A (p.V3875I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32043458C>T" "" "likely benign" "" "0000313366" "0" "10" "6" "32011204" "32011204" "subst" "0.464989" "02329" "TNXB_000300" "g.32011204G>C" "" "" "" "TNXB(NM_019105.8):c.11644+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32043427G>C" "" "benign" "" "0000313367" "0" "30" "6" "32010843" "32010843" "subst" "9.32923E-5" "02329" "TNXB_000299" "g.32010843C>T" "" "" "" "TNXB(NM_019105.8):c.11804G>A (p.R3935Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32043066C>T" "" "likely benign" "" "0000313368" "0" "30" "6" "32010818" "32010818" "subst" "0.00093238" "02329" "TNXB_000298" "g.32010818G>A" "" "" "" "TNXB(NM_019105.8):c.11829C>T (p.T3943=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32043041G>A" "" "likely benign" "" "0000313369" "0" "30" "6" "32010732" "32010732" "subst" "0.397319" "02329" "TNXB_000297" "g.32010732T>G" "" "" "" "TNXB(NM_019105.8):c.11915A>C (p.N3972T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32042955T>G" "" "likely benign" "" "0000313370" "0" "30" "6" "32010572" "32010572" "subst" "0" "02329" "TNXB_000013" "g.32010572G>T" "" "" "" "TNXB(NM_019105.8):c.11956C>A (p.L3986I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32042795G>T" "" "likely benign" "" "0000313371" "0" "30" "6" "32010378" "32010378" "subst" "0" "02329" "TNXB_000296" "g.32010378G>A" "" "" "" "TNXB(NM_019105.8):c.12058C>T (p.L4020=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32042601G>A" "" "likely benign" "" "0000313372" "0" "30" "6" "32010287" "32010287" "subst" "4.09313E-6" "02329" "TNXB_000295" "g.32010287C>T" "" "" "" "TNXB(NM_019105.8):c.12149G>A (p.R4050H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32042510C>T" "" "likely benign" "" "0000313373" "0" "50" "6" "32010282" "32010282" "subst" "2.04445E-5" "02329" "TNXB_000294" "g.32010282G>A" "" "" "" "TNXB(NM_019105.8):c.12154C>T (p.R4052W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32042505G>A" "" "VUS" "" "0000313374" "0" "90" "6" "32010262" "32010262" "subst" "2.03538E-5" "02329" "TNXB_000018" "g.32010262G>C" "" "" "" "TNXB(NM_019105.8):c.12174C>G (p.C4058W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32042485G>C" "" "pathogenic" "" "0000313376" "0" "50" "6" "32010227" "32010227" "subst" "0.00290361" "02329" "TNXB_000292" "g.32010227C>T" "" "" "" "TNXB(NM_019105.8):c.12204+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32042450C>T" "" "VUS" "" "0000313377" "0" "50" "6" "32010126" "32010126" "subst" "0.0328531" "02329" "TNXB_000019" "g.32010126C>T" "" "" "" "TNXB(NM_019105.8):c.12218G>A (p.R4073H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32042349C>T" "" "VUS" "" "0000313378" "0" "30" "6" "32010098" "32010098" "subst" "4.28677E-6" "02329" "TNXB_000289" "g.32010098C>T" "" "" "" "TNXB(NM_019105.8):c.12246G>A (p.R4082=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32042321C>T" "" "likely benign" "" "0000313379" "0" "30" "6" "32009902" "32009902" "subst" "0" "02329" "TNXB_000288" "g.32009902C>T" "" "" "" "TNXB(NM_019105.8):c.12350G>A (p.R4117H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32042125C>T" "" "likely benign" "" "0000313380" "0" "30" "6" "32009880" "32009880" "subst" "0.0073755" "02329" "TNXB_000287" "g.32009880G>A" "" "" "" "TNXB(NM_019105.8):c.12372C>T (p.D4124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32042103G>A" "" "likely benign" "" "0000313381" "0" "50" "6" "32009661" "32009661" "subst" "0" "02329" "TNXB_000020" "g.32009661C>T" "" "" "" "TNXB(NM_019105.8):c.12514G>A (p.D4172N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041884C>T" "" "VUS" "" "0000313382" "0" "30" "6" "32009651" "32009651" "subst" "0" "02329" "TNXB_000021" "g.32009651C>T" "" "" "" "TNXB(NM_019105.6):c.12524G>A (p.(Ser4175Asn)), TNXB(NM_019105.8):c.12524G>A (p.S4175N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041874C>T" "" "likely benign" "" "0000313383" "0" "30" "6" "32009641" "32009641" "subst" "0.000672233" "02329" "TNXB_000286" "g.32009641G>A" "" "" "" "TNXB(NM_019105.8):c.12534C>T (p.I4178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041864G>A" "" "likely benign" "" "0000313384" "0" "50" "6" "32009634" "32009634" "subst" "0" "02329" "TNXB_000285" "g.32009634C>T" "" "" "" "TNXB(NM_019105.8):c.12541G>A (p.A4181T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041857C>T" "" "VUS" "" "0000313385" "0" "10" "6" "32009351" "32009351" "subst" "0" "02329" "TNXB_000280" "g.32009351C>T" "" "" "" "TNXB(NM_019105.8):c.12628-124G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041574C>T" "" "benign" "" "0000313386" "0" "10" "6" "32009354" "32009354" "subst" "0" "02329" "TNXB_000281" "g.32009354T>C" "" "" "" "TNXB(NM_019105.8):c.12628-127A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041577T>C" "" "benign" "" "0000313387" "0" "10" "6" "32009375" "32009375" "subst" "0" "02329" "TNXB_000282" "g.32009375T>C" "" "" "" "TNXB(NM_019105.8):c.12628-148A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041598T>C" "" "benign" "" "0000313388" "0" "10" "6" "32009385" "32009385" "subst" "0" "02329" "TNXB_000283" "g.32009385C>T" "" "" "" "TNXB(NM_019105.8):c.12628-158G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041608C>T" "" "benign" "" "0000313389" "0" "10" "6" "32009279" "32009279" "subst" "0.0204066" "02329" "TNXB_000277" "g.32009279T>C" "" "" "" "TNXB(NM_019105.8):c.12628-52A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041502T>C" "" "benign" "" "0000313390" "0" "10" "6" "32009307" "32009307" "subst" "0" "02329" "TNXB_000279" "g.32009307C>G" "" "" "" "TNXB(NM_019105.8):c.12628-80G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041530C>G" "" "benign" "" "0000313391" "0" "30" "6" "32009133" "32009133" "subst" "0" "02329" "TNXB_000275" "g.32009133C>A" "" "" "" "TNXB(NM_019105.8):c.12722G>T (p.G4241V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041356C>A" "" "likely benign" "" "0000313392" "0" "10" "6" "32064098" "32064098" "subst" "0.148558" "02329" "TNXB_000166" "g.32064098C>T" "" "" "" "TNXB(NM_019105.8):c.1532G>A (p.R511H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32096321C>T" "" "benign" "" "0000313393" "0" "30" "6" "32063959" "32063959" "subst" "0.000401548" "02329" "TNXB_000165" "g.32063959G>A" "" "" "" "TNXB(NM_019105.8):c.1671C>T (p.R557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32096182G>A" "" "likely benign" "" "0000313394" "0" "10" "6" "32063896" "32063896" "subst" "0.0222477" "02329" "TNXB_000164" "g.32063896G>A" "" "" "" "TNXB(NM_019105.8):c.1734C>T (p.D578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32096119G>A" "" "benign" "" "0000313395" "0" "10" "6" "32063793" "32063793" "subst" "0.0069008" "02329" "TNXB_000162" "g.32063793T>C" "" "" "" "TNXB(NM_019105.8):c.1837A>G (p.S613G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32096016T>C" "" "benign" "" "0000313396" "0" "10" "6" "32063681" "32063681" "subst" "0.0603274" "02329" "TNXB_000161" "g.32063681C>T" "" "" "" "TNXB(NM_019105.8):c.1949G>A (p.R650H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32095904C>T" "" "benign" "" "0000313397" "0" "30" "6" "32063600" "32063600" "subst" "0.00222458" "02329" "TNXB_000160" "g.32063600T>C" "" "" "" "TNXB(NM_019105.6):c.2030A>G (p.D677G), TNXB(NM_019105.8):c.2030A>G (p.D677G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32095823T>C" "" "likely benign" "" "0000313398" "0" "30" "6" "32065765" "32065765" "subst" "0.00027232" "02329" "TNXB_000176" "g.32065765C>A" "" "" "" "TNXB(NM_019105.6):c.211G>T (p.V71L, p.(Val71Leu)), TNXB(NM_019105.8):c.211G>T (p.V71L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32097988C>A" "" "likely benign" "" "0000313399" "0" "30" "6" "32063460" "32063460" "subst" "0.00144398" "02329" "TNXB_000159" "g.32063460G>A" "" "" "" "TNXB(NM_019105.8):c.2170C>T (p.R724C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32095683G>A" "" "likely benign" "" "0000313400" "0" "10" "6" "32057148" "32057148" "subst" "0.00640437" "02329" "TNXB_000157" "g.32057148C>T" "" "" "" "TNXB(NM_019105.8):c.2367G>A (p.G789=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32089371C>T" "" "benign" "" "0000313401" "0" "90" "6" "32057054" "32057054" "subst" "2.04127E-5" "02329" "TNXB_000033" "g.32057054G>A" "" "" "" "TNXB(NM_019105.6):c.2461C>T (p.R821*), TNXB(NM_019105.8):c.2461C>T (p.R821*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32089277G>A" "" "pathogenic" "" "0000313402" "0" "90" "6" "32056751" "32056751" "subst" "0" "02329" "TNXB_000030" "g.32056751G>A" "" "" "" "TNXB(NM_001365276.2):c.2590C>T (p.(Gln864*)), TNXB(NM_019105.8):c.2590C>T (p.Q864*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32088974G>A" "" "pathogenic" "" "0000313403" "0" "30" "6" "32053694" "32053694" "subst" "0.000145368" "02329" "TNXB_000153" "g.32053694C>T" "" "" "" "TNXB(NM_019105.6):c.2981G>A (p.(Arg994His)), TNXB(NM_019105.8):c.2981G>A (p.R994H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32085917C>T" "" "likely benign" "" "0000313404" "0" "10" "6" "32052444" "32052444" "subst" "0.0132986" "02329" "TNXB_000152" "g.32052444C>T" "" "" "" "TNXB(NM_001365276.2):c.3191G>A (p.(Arg1064His)), TNXB(NM_019105.8):c.3191G>A (p.R1064H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32084667C>T" "" "benign" "" "0000313405" "0" "90" "6" "32052345" "32052346" "del" "0" "02329" "TNXB_000151" "g.32052345_32052346del" "" "" "" "TNXB(NM_019105.6):c.3290_3291delAA (p.(Lys1097fs)), TNXB(NM_019105.8):c.3290_3291delAA (p.K1097Rfs*48)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32084568_32084569del" "" "pathogenic" "" "0000313406" "0" "30" "6" "32052255" "32052255" "subst" "0.00398259" "02329" "TNXB_000149" "g.32052255T>C" "" "" "" "TNXB(NM_019105.8):c.3380A>G (p.K1127R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32084478T>C" "" "likely benign" "" "0000313407" "0" "10" "6" "32050067" "32050067" "subst" "0.577575" "02329" "TNXB_000148" "g.32050067T>C" "" "" "" "TNXB(NM_019105.8):c.3482A>G (p.H1161R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32082290T>C" "" "benign" "" "0000313408" "0" "30" "6" "32050061" "32050061" "subst" "0.000658273" "02329" "TNXB_000036" "g.32050061C>T" "" "" "" "TNXB(NM_019105.8):c.3488G>A (p.G1163E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32082284C>T" "" "likely benign" "" "0000313409" "0" "30" "6" "32046976" "32046976" "subst" "0.000816819" "02329" "TNXB_000143" "g.32046976G>A" "" "" "" "TNXB(NM_019105.8):c.4209C>T (p.T1403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32079199G>A" "" "likely benign" "" "0000313410" "0" "10" "6" "32046944" "32046944" "subst" "0.0270473" "02329" "TNXB_000142" "g.32046944C>T" "" "" "" "TNXB(NM_019105.8):c.4241G>A (p.R1414Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32079167C>T" "" "benign" "" "0000313411" "0" "10" "6" "32046853" "32046853" "subst" "0.00709063" "02329" "TNXB_000141" "g.32046853G>A" "" "" "" "TNXB(NM_019105.8):c.4332C>T (p.H1444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32079076G>A" "" "benign" "" "0000313412" "0" "10" "6" "32041621" "32041621" "subst" "0.00437035" "02329" "TNXB_000140" "g.32041621G>A" "" "" "" "TNXB(NM_019105.8):c.4484C>T (p.T1495I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32073844G>A" "" "benign" "" "0000313413" "0" "30" "6" "32041543" "32041543" "subst" "0.00248104" "02329" "TNXB_000139" "g.32041543G>A" "" "" "" "TNXB(NM_019105.6):c.4562C>T (p.A1521V), TNXB(NM_019105.8):c.4562C>T (p.A1521V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32073766G>A" "" "likely benign" "" "0000313414" "0" "50" "6" "32041419" "32041419" "subst" "0" "02329" "TNXB_000137" "g.32041419C>T" "" "" "" "TNXB(NM_019105.8):c.4681+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32073642C>T" "" "VUS" "" "0000313415" "0" "10" "6" "32039909" "32039909" "subst" "0.0101664" "02329" "TNXB_000136" "g.32039909C>T" "" "" "" "TNXB(NM_019105.8):c.4848G>A (p.G1616=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32072132C>T" "" "benign" "" "0000313416" "0" "10" "6" "32039872" "32039872" "subst" "0.00619674" "02329" "TNXB_000135" "g.32039872C>T" "" "" "" "TNXB(NM_019105.8):c.4885G>A (p.E1629K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32072095C>T" "" "benign" "" "0000313417" "0" "30" "6" "32038098" "32038098" "subst" "0.000245323" "02329" "TNXB_000134" "g.32038098G>A" "" "" "" "TNXB(NM_019105.8):c.5084C>T (p.T1695M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32070321G>A" "" "likely benign" "" "0000313418" "0" "30" "6" "32038046" "32038046" "subst" "0.00100162" "02329" "TNXB_000132" "g.32038046G>A" "" "" "" "TNXB(NM_019105.8):c.5136C>T (p.D1712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32070269G>A" "" "likely benign" "" "0000313419" "0" "30" "6" "32037426" "32037426" "subst" "6.55158E-5" "02329" "TNXB_000130" "g.32037426C>T" "" "" "" "TNXB(NM_019105.8):c.5491G>A (p.V1831M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32069649C>T" "" "likely benign" "" "0000313420" "0" "30" "6" "32036906" "32036906" "subst" "0" "02329" "TNXB_000129" "g.32036906C>T" "" "" "" "TNXB(NM_019105.8):c.5595G>A (p.R1865=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32069129C>T" "" "likely benign" "" "0000313421" "0" "10" "6" "32036822" "32036822" "subst" "0.0156692" "02329" "TNXB_000128" "g.32036822C>T" "" "" "" "TNXB(NM_019105.8):c.5679G>A (p.T1893=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32069045C>T" "" "benign" "" "0000313422" "0" "10" "6" "32036788" "32036788" "subst" "0.0208209" "02329" "TNXB_000127" "g.32036788C>T" "" "" "" "TNXB(NM_019105.8):c.5713G>A (p.E1905K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32069011C>T" "" "benign" "" "0000313423" "0" "10" "6" "32036755" "32036755" "subst" "0.00182117" "02329" "TNXB_000126" "g.32036755T>C" "" "" "" "TNXB(NM_019105.8):c.5746A>G (p.T1916A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32068978T>C" "" "benign" "" "0000313424" "0" "10" "6" "32036678" "32036678" "subst" "0.00514972" "02329" "TNXB_000124" "g.32036678G>A" "" "" "" "TNXB(NM_019105.8):c.5823C>T (p.S1941=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32068901G>A" "" "benign" "" "0000313425" "0" "10" "6" "32036450" "32036450" "subst" "0.00620481" "02329" "TNXB_000123" "g.32036450G>A" "" "" "" "TNXB(NM_019105.8):c.5937C>T (p.T1979=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32068673G>A" "" "benign" "" "0000313426" "0" "10" "6" "32036357" "32036357" "subst" "0.139354" "02329" "TNXB_000121" "g.32036357G>A" "" "" "" "TNXB(NM_019105.8):c.6030C>T (p.P2010=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32068580G>A" "" "benign" "" "0000313427" "0" "10" "6" "32065023" "32065023" "subst" "0.0532442" "02329" "TNXB_000174" "g.32065023C>T" "" "" "" "TNXB(NM_019105.8):c.607G>A (p.V203M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32097246C>T" "" "benign" "" "0000313428" "0" "10" "6" "32035694" "32035694" "subst" "0.0601907" "02329" "TNXB_000120" "g.32035694C>T" "" "" "" "TNXB(NM_019105.8):c.6288G>A (p.P2096=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32067917C>T" "" "benign" "" "0000313429" "0" "10" "6" "32035603" "32035603" "subst" "0.139314" "02329" "TNXB_000119" "g.32035603C>T" "" "" "" "TNXB(NM_019105.8):c.6379G>A (p.V2127M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32067826C>T" "" "benign" "" "0000313430" "0" "10" "6" "32035469" "32035469" "subst" "0.00621138" "02329" "TNXB_000118" "g.32035469G>A" "" "" "" "TNXB(NM_019105.8):c.6513C>T (p.R2171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32067692G>A" "" "benign" "" "0000313431" "0" "10" "6" "32035427" "32035427" "subst" "0.13939" "02329" "TNXB_000117" "g.32035427T>C" "" "" "" "TNXB(NM_019105.8):c.6544+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32067650T>C" "" "benign" "" "0000313432" "0" "30" "6" "32032790" "32032790" "subst" "0.00111308" "02329" "TNXB_000116" "g.32032790G>T" "" "" "" "TNXB(NM_019105.8):c.6649C>A (p.P2217T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32065013G>T" "" "likely benign" "" "0000313433" "0" "10" "6" "32032743" "32032743" "subst" "0.438323" "02329" "TNXB_000114" "g.32032743G>A" "" "" "" "TNXB(NM_019105.8):c.6696C>T (p.D2232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32064966G>A" "" "benign" "" "0000313434" "0" "10" "6" "32032628" "32032628" "subst" "0.00650538" "02329" "TNXB_000113" "g.32032628C>G" "" "" "" "TNXB(NM_019105.8):c.6811G>C (p.V2271L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32064851C>G" "" "benign" "" "0000313435" "0" "30" "6" "32032620" "32032620" "subst" "0.00051573" "02329" "TNXB_000112" "g.32032620G>A" "" "" "" "TNXB(NM_019105.6):c.6819C>T (p.P2273=), TNXB(NM_019105.8):c.6819C>T (p.P2273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32064843G>A" "" "likely benign" "" "0000313436" "0" "10" "6" "32030200" "32030200" "subst" "0.00622338" "02329" "TNXB_000111" "g.32030200G>T" "" "" "" "TNXB(NM_019105.8):c.6902C>A (p.P2301H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32062423G>T" "" "benign" "" "0000313437" "0" "30" "6" "32030129" "32030129" "subst" "0.000562636" "02329" "TNXB_000109" "g.32030129C>T" "" "" "" "TNXB(NM_019105.6):c.6973G>A (p.V2325I), TNXB(NM_019105.8):c.6973G>A (p.V2325I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32062352C>T" "" "likely benign" "" "0000313438" "0" "10" "6" "32029915" "32029915" "subst" "0.00644385" "02329" "TNXB_000107" "g.32029915G>T" "" "" "" "TNXB(NM_019105.8):c.7168+19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32062138G>T" "" "benign" "" "0000313439" "0" "10" "6" "32029929" "32029929" "subst" "0.0248639" "02329" "TNXB_000108" "g.32029929C>T" "" "" "" "TNXB(NM_019105.8):c.7168+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32062152C>T" "" "benign" "" "0000313440" "0" "10" "6" "32029431" "32029431" "subst" "0.0783709" "02329" "TNXB_000106" "g.32029431G>A" "" "" "" "TNXB(NM_019105.8):c.7235C>T (p.P2412L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32061654G>A" "" "benign" "" "0000313441" "0" "10" "6" "32029415" "32029415" "subst" "0.601779" "02329" "TNXB_000105" "g.32029415T>C" "" "" "" "TNXB(NM_019105.8):c.7251A>G (p.L2417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32061638T>C" "" "benign" "" "0000313442" "0" "30" "6" "32029289" "32029289" "subst" "0.00603156" "02329" "TNXB_000104" "g.32029289G>A" "" "" "" "TNXB(NM_019105.8):c.7377C>T (p.G2459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32061512G>A" "" "likely benign" "" "0000313443" "0" "30" "6" "32029288" "32029288" "subst" "2.85372E-5" "02329" "TNXB_000103" "g.32029288C>T" "" "" "" "TNXB(NM_019105.6):c.7378G>A (p.(Glu2460Lys)), TNXB(NM_019105.8):c.7378G>A (p.E2460K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32061511C>T" "" "likely benign" "" "0000313444" "0" "10" "6" "32029205" "32029205" "subst" "0.0586904" "02329" "TNXB_000101" "g.32029205G>A" "" "" "" "TNXB(NM_019105.8):c.7461C>T (p.R2487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32061428G>A" "" "benign" "" "0000313445" "0" "10" "6" "32029183" "32029183" "subst" "0.135128" "02329" "TNXB_000100" "g.32029183C>T" "" "" "" "TNXB(NM_019105.8):c.7483G>A (p.G2495S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32061406C>T" "" "benign" "" "0000313446" "0" "10" "6" "32026107" "32026107" "subst" "0.719808" "02329" "TNXB_000098" "g.32026107C>T" "" "" "" "TNXB(NM_019105.8):c.7553G>A (p.G2518E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32058330C>T" "" "benign" "" "0000313447" "0" "30" "6" "32025966" "32025966" "subst" "0.000155418" "02329" "TNXB_000097" "g.32025966G>A" "" "" "" "TNXB(NM_019105.6):c.7694C>T (p.(Ala2565Val)), TNXB(NM_019105.8):c.7694C>T (p.A2565V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32058189G>A" "" "likely benign" "" "0000313448" "0" "30" "6" "32025942" "32025942" "subst" "4.48643E-5" "02329" "TNXB_000096" "g.32025942C>T" "" "" "" "TNXB(NM_019105.8):c.7718G>A (p.S2573N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32058165C>T" "" "likely benign" "" "0000313449" "0" "10" "6" "32025870" "32025870" "subst" "0.143258" "02329" "TNXB_000095" "g.32025870C>T" "" "" "" "TNXB(NM_019105.8):c.7790G>A (p.R2597Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32058093C>T" "" "benign" "" "0000313450" "0" "10" "6" "32025863" "32025863" "subst" "0.0911327" "02329" "TNXB_000094" "g.32025863C>T" "" "" "" "TNXB(NM_019105.8):c.7797G>A (p.L2599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32058086C>T" "" "benign" "" "0000313451" "0" "90" "6" "32024681" "32024681" "subst" "1.24414E-5" "02329" "TNXB_000027" "g.32024681C>G" "" "" "" "TNXB(NM_019105.8):c.7826-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32056904C>G" "" "pathogenic" "" "0000313452" "0" "30" "6" "32024650" "32024650" "subst" "0.000888085" "02329" "TNXB_000091" "g.32024650G>A" "" "" "" "TNXB(NM_019105.8):c.7856C>T (p.P2619L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32056873G>A" "" "likely benign" "" "0000313453" "0" "30" "6" "32024600" "32024600" "subst" "0.000266647" "02329" "TNXB_000090" "g.32024600T>C" "" "" "" "TNXB(NM_019105.6):c.7906A>G (p.M2636V), TNXB(NM_019105.8):c.7906A>G (p.M2636V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32056823T>C" "" "likely benign" "" "0000313454" "0" "30" "6" "32024587" "32024587" "subst" "1.2289E-5" "02329" "TNXB_000089" "g.32024587G>C" "" "" "" "TNXB(NM_019105.8):c.7919C>G (p.T2640S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32056810G>C" "" "likely benign" "" "0000313455" "0" "30" "6" "32024552" "32024552" "subst" "0.000556934" "02329" "TNXB_000087" "g.32024552C>T" "" "" "" "TNXB(NM_001365276.2):c.7954G>A (p.(Glu2652Lys)), TNXB(NM_019105.8):c.7954G>A (p.E2652K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32056775C>T" "" "likely benign" "" "0000313456" "0" "30" "6" "32024511" "32024511" "subst" "0.000217539" "02329" "TNXB_000086" "g.32024511C>T" "" "" "" "TNXB(NM_019105.8):c.7995G>A (p.G2665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32056734C>T" "" "likely benign" "" "0000313457" "0" "10" "6" "32024395" "32024395" "subst" "0.0780836" "02329" "TNXB_000085" "g.32024395C>T" "" "" "" "TNXB(NM_019105.8):c.8111G>A (p.R2704H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32056618C>T" "" "benign" "" "0000313458" "0" "10" "6" "32023903" "32023903" "subst" "0.0305645" "02329" "TNXB_000083" "g.32023903G>C" "" "" "" "TNXB(NM_019105.8):c.8192C>G (p.P2731R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32056126G>C" "" "benign" "" "0000313459" "0" "30" "6" "32021472" "32021472" "subst" "0.000377512" "02329" "TNXB_000082" "g.32021472T>G" "" "" "" "TNXB(NM_019105.8):c.8478A>C (p.A2826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32053695T>G" "" "likely benign" "" "0000313460" "0" "10" "6" "32021358" "32021358" "subst" "0.00617466" "02329" "TNXB_000080" "g.32021358G>A" "" "" "" "TNXB(NM_019105.8):c.8592C>T (p.V2864=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32053581G>A" "" "benign" "" "0000313461" "0" "10" "6" "32021355" "32021355" "subst" "0.00861079" "02329" "TNXB_000079" "g.32021355G>A" "" "" "" "TNXB(NM_019105.8):c.8595C>T (p.P2865=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32053578G>A" "" "benign" "" "0000313462" "0" "50" "6" "32065891" "32065891" "subst" "1.64909E-5" "02329" "TNXB_000012" "g.32065891G>A" "" "" "" "TNXB(NM_019105.8):c.85C>T (p.R29W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32098114G>A" "" "VUS" "" "0000313463" "0" "30" "6" "32021283" "32021283" "subst" "6.57365E-5" "02329" "TNXB_000078" "g.32021283C>T" "" "" "" "TNXB(NM_019105.8):c.8667G>A (p.P2889=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32053506C>T" "" "likely benign" "" "0000313464" "0" "30" "6" "32065890" "32065890" "subst" "0.00327608" "02329" "TNXB_000179" "g.32065890C>T" "" "" "" "TNXB(NM_019105.6):c.86G>A (p.(Arg29Gln)), TNXB(NM_019105.8):c.86G>A (p.R29Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32098113C>T" "" "likely benign" "" "0000313465" "0" "10" "6" "32020717" "32020717" "subst" "0.0156597" "02329" "TNXB_000077" "g.32020717G>T" "" "" "" "TNXB(NM_019105.8):c.8839C>A (p.P2947T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32052940G>T" "" "benign" "" "0000313466" "0" "90" "6" "32064727" "32064727" "del" "0" "02329" "TNXB_000031" "g.32064727del" "" "" "" "TNXB(NM_019105.8):c.903delC (p.Y301*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32096950del" "" "pathogenic" "" "0000313467" "0" "10" "6" "32020512" "32020512" "subst" "0.0239139" "02329" "TNXB_000076" "g.32020512T>C" "" "" "" "TNXB(NM_019105.8):c.9044A>G (p.K3015R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32052735T>C" "" "benign" "" "0000313468" "0" "30" "6" "32064721" "32064721" "subst" "0.0021383" "02329" "TNXB_000172" "g.32064721G>C" "" "" "" "TNXB(NM_019105.8):c.909C>G (p.G303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32096944G>C" "" "likely benign" "" "0000313469" "0" "30" "6" "32018111" "32018111" "subst" "0.000108102" "02329" "TNXB_000075" "g.32018111G>A" "" "" "" "TNXB(NM_019105.8):c.9110-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32050334G>A" "" "likely benign" "" "0000313470" "0" "30" "6" "32017900" "32017900" "subst" "0.00120446" "02329" "TNXB_000074" "g.32017900C>T" "" "" "" "TNXB(NM_019105.8):c.9308G>A (p.R3103Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32050123C>T" "" "likely benign" "" "0000313471" "0" "30" "6" "32017776" "32017776" "subst" "0.00308227" "02329" "TNXB_000073" "g.32017776C>T" "" "" "" "TNXB(NM_019105.8):c.9432G>A (p.T3144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32049999C>T" "" "likely benign" "" "0000313472" "0" "30" "6" "32017331" "32017331" "subst" "4.15531E-5" "02329" "TNXB_000072" "g.32017331G>A" "" "" "" "TNXB(NM_019105.8):c.9467C>T (p.T3156I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32049554G>A" "" "likely benign" "" "0000313473" "0" "30" "6" "32017243" "32017243" "subst" "0.000169171" "02329" "TNXB_000071" "g.32017243G>A" "" "" "" "TNXB(NM_019105.8):c.9555C>T (p.T3185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32049466G>A" "" "likely benign" "" "0000313474" "0" "10" "6" "32017242" "32017242" "subst" "0.0483891" "02329" "TNXB_000070" "g.32017242C>T" "" "" "" "TNXB(NM_019105.8):c.9556G>A (p.V3186I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32049465C>T" "" "benign" "" "0000313475" "0" "30" "6" "32017192" "32017192" "subst" "0.00324998" "02329" "TNXB_000069" "g.32017192G>A" "" "" "" "TNXB(NM_019105.6):c.9606C>T (p.D3202=), TNXB(NM_019105.8):c.9606C>T (p.D3202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32049415G>A" "" "likely benign" "" "0000313476" "0" "10" "6" "32017173" "32017173" "subst" "0.0396766" "02329" "TNXB_000068" "g.32017173G>C" "" "" "" "TNXB(NM_019105.8):c.9625C>G (p.R3209G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32049396G>C" "" "benign" "" "0000313477" "0" "10" "6" "32017161" "32017161" "subst" "0.00622116" "02329" "TNXB_000067" "g.32017161C>T" "" "" "" "TNXB(NM_019105.8):c.9637G>A (p.E3213K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32049384C>T" "" "benign" "" "0000313478" "0" "30" "6" "32017141" "32017141" "subst" "0.00199561" "02329" "TNXB_000065" "g.32017141C>T" "" "" "" "TNXB(NM_019105.8):c.9657G>A (p.V3219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32049364C>T" "" "likely benign" "" "0000313479" "0" "10" "6" "32017132" "32017132" "subst" "0.00694729" "02329" "TNXB_000064" "g.32017132C>T" "" "" "" "TNXB(NM_019105.8):c.9666G>A (p.L3222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32049355C>T" "" "benign" "" "0000316909" "0" "50" "6" "32063879" "32063879" "subst" "0" "01943" "TNXB_000163" "g.32063879T>A" "" "" "" "TNXB(NM_019105.6):c.1751A>T (p.D584V, p.(Asp584Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32096102T>A" "" "VUS" "" "0000316910" "0" "50" "6" "32052313" "32052313" "subst" "0.000800943" "01943" "TNXB_000014" "g.32052313C>T" "" "" "" "TNXB(NM_019105.6):c.3322G>A (p.V1108M, p.(Val1108Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32084536C>T" "" "VUS" "" "0000316911" "0" "30" "6" "32049982" "32049982" "subst" "1.65999E-5" "01943" "TNXB_000146" "g.32049982G>A" "" "" "" "TNXB(NM_019105.6):c.3567C>T (p.F1189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32082205G>A" "" "likely benign" "" "0000316912" "0" "30" "6" "32049424" "32049424" "subst" "0.000113088" "01943" "TNXB_000145" "g.32049424G>C" "" "" "" "TNXB(NM_019105.6):c.3763C>G (p.R1255G), TNXB(NM_019105.8):c.3763C>G (p.R1255G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32081647G>C" "" "likely benign" "" "0000316913" "0" "30" "6" "32049413" "32049413" "subst" "0" "01943" "TNXB_000144" "g.32049413G>A" "" "" "" "TNXB(NM_019105.6):c.3774C>T (p.F1258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32081636G>A" "" "likely benign" "" "0000316915" "0" "30" "6" "32032620" "32032620" "subst" "0.00051573" "01943" "TNXB_000112" "g.32032620G>A" "" "" "" "TNXB(NM_019105.6):c.6819C>T (p.P2273=), TNXB(NM_019105.8):c.6819C>T (p.P2273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32064843G>A" "" "likely benign" "" "0000316916" "0" "30" "6" "32030130" "32030130" "subst" "0.000713552" "01943" "TNXB_000110" "g.32030130C>T" "" "" "" "TNXB(NM_019105.6):c.6972G>A (p.T2324=), TNXB(NM_019105.8):c.6972G>A (p.T2324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32062353C>T" "" "likely benign" "" "0000316917" "0" "30" "6" "32030129" "32030129" "subst" "0.000562636" "01943" "TNXB_000109" "g.32030129C>T" "" "" "" "TNXB(NM_019105.6):c.6973G>A (p.V2325I), TNXB(NM_019105.8):c.6973G>A (p.V2325I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32062352C>T" "" "likely benign" "" "0000316918" "0" "50" "6" "32024560" "32024560" "subst" "0.000331489" "01943" "TNXB_000088" "g.32024560G>A" "" "" "" "TNXB(NM_019105.6):c.7946C>T (p.T2649M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32056783G>A" "" "VUS" "" "0000316919" "0" "30" "6" "32064691" "32064691" "subst" "7.15133E-5" "01943" "TNXB_000171" "g.32064691C>A" "" "" "" "TNXB(NM_019105.6):c.939G>T (p.R313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32096914C>A" "" "likely benign" "" "0000316920" "0" "30" "6" "32017192" "32017192" "subst" "0.00324998" "01943" "TNXB_000069" "g.32017192G>A" "" "" "" "TNXB(NM_019105.6):c.9606C>T (p.D3202=), TNXB(NM_019105.8):c.9606C>T (p.D3202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32049415G>A" "" "likely benign" "" "0000316921" "0" "10" "6" "32017143" "32017143" "subst" "0.00597038" "01943" "TNXB_000066" "g.32017143C>T" "" "" "" "TNXB(NM_019105.6):c.9655G>A (p.V3219M), TNXB(NM_019105.8):c.9655G>A (p.V3219M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32049366C>T" "" "benign" "" "0000316922" "0" "30" "6" "32016239" "32016239" "subst" "0.000963554" "01943" "TNXB_000062" "g.32016239C>T" "" "" "" "TNXB(NM_019105.6):c.9940G>A (p.A3314T), TNXB(NM_019105.8):c.9940G>A (p.A3314T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32048462C>T" "" "likely benign" "" "0000330904" "0" "50" "6" "32008870" "32008870" "subst" "0.000546001" "01804" "CYP21A2_000101" "g.32008870C>T" "" "" "" "CYP21A2(NM_000500.7):c.1447C>T (p.(Pro483Ser)), CYP21A2(NM_001128590.3):c.1357C>T (p.P453S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041093C>T" "" "VUS" "" "0000330906" "0" "50" "6" "32009137" "32009137" "subst" "0.000141906" "01804" "TNXB_000276" "g.32009137C>T" "" "" "" "TNXB(NM_019105.6):c.12718G>A (p.(Gly4240Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041360C>T" "" "VUS" "" "0000330907" "0" "50" "6" "32009651" "32009651" "subst" "0" "01804" "TNXB_000021" "g.32009651C>T" "" "" "" "TNXB(NM_019105.6):c.12524G>A (p.(Ser4175Asn)), TNXB(NM_019105.8):c.12524G>A (p.S4175N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041874C>T" "" "VUS" "" "0000330908" "0" "50" "6" "32010270" "32010270" "subst" "8.14724E-6" "01804" "TNXB_000293" "g.32010270C>T" "" "" "" "TNXB(NM_019105.6):c.12166G>A (p.(Val4056Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32042493C>T" "" "VUS" "" "0000330910" "0" "50" "6" "32012793" "32012793" "subst" "0" "01804" "TNXB_000054" "g.32012793C>A" "" "" "" "TNXB(NM_019105.6):c.10911G>T (p.(Glu3637Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32045016C>A" "" "VUS" "" "0000330911" "0" "50" "6" "32013033" "32013033" "subst" "0" "01804" "TNXB_000058" "g.32013033T>C" "" "" "" "TNXB(NM_019105.6):c.10671A>G (p.(=)), TNXB(NM_019105.8):c.10671A>G (p.L3557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32045256T>C" "" "VUS" "" "0000330914" "0" "50" "6" "32036404" "32036404" "subst" "5.28344E-5" "01804" "TNXB_000122" "g.32036404C>T" "" "" "" "TNXB(NM_019105.6):c.5983G>A (p.(Val1995Met)), TNXB(NM_019105.8):c.5983G>A (p.V1995M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32068627C>T" "" "VUS" "" "0000330916" "0" "50" "6" "32057030" "32057030" "subst" "0.0012725" "01804" "TNXB_000155" "g.32057030C>T" "" "" "" "TNXB(NM_001365276.2):c.2485G>A (p.(Gly829Ser)), TNXB(NM_019105.6):c.2485G>A (p.G829S), TNXB(NM_019105.8):c.2485G>A (p.G829S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32089253C>T" "" "VUS" "" "0000330917" "0" "50" "6" "32057149" "32057149" "subst" "0.000438549" "01804" "TNXB_000158" "g.32057149C>T" "" "" "" "TNXB(NM_001365276.2):c.2366G>A (p.(Gly789Glu)), TNXB(NM_019105.8):c.2366G>A (p.G789E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32089372C>T" "" "VUS" "" "0000330920" "0" "50" "6" "32064371" "32064371" "subst" "0.000698547" "01804" "TNXB_000168" "g.32064371A>G" "" "" "" "TNXB(NM_019105.6):c.1259T>C (p.(Val420Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32096594A>G" "" "VUS" "" "0000330921" "0" "50" "6" "32065890" "32065890" "subst" "0.00327608" "01804" "TNXB_000179" "g.32065890C>T" "" "" "" "TNXB(NM_019105.6):c.86G>A (p.(Arg29Gln)), TNXB(NM_019105.8):c.86G>A (p.R29Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32098113C>T" "" "VUS" "" "0000336826" "0" "30" "6" "32006118" "32006118" "subst" "0" "02327" "CYP21A2_000104" "g.32006118C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32038341C>T" "" "likely benign" "" "0000337694" "0" "30" "6" "32006058" "32006058" "subst" "0" "02327" "CYP21A2_000102" "g.32006058A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32038281A>C" "" "likely benign" "" "0000337695" "0" "70" "6" "32006087" "32006087" "subst" "0" "02327" "CYP21A2_000089" "g.32006087G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32038310G>A" "" "likely pathogenic" "" "0000337696" "0" "70" "6" "32006090" "32006090" "subst" "0" "02327" "CYP21A2_000090" "g.32006090T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32038313T>C" "" "likely pathogenic" "" "0000337697" "0" "30" "6" "32006196" "32006196" "subst" "0.0118497" "02327" "CYP21A2_000094" "g.32006196C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32038419C>T" "" "likely benign" "" "0000337698" "0" "10" "6" "32007624" "32007624" "subst" "0.130879" "02327" "CYP21A2_000046" "g.32007624A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32039847A>G" "" "benign" "" "0000337699" "0" "10" "6" "32007625" "32007625" "subst" "0.130879" "02327" "CYP21A2_000048" "g.32007625C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32039848C>T" "" "benign" "" "0000337700" "0" "10" "6" "32007992" "32007992" "subst" "0" "02327" "CYP21A2_000114" "g.32007992G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040215G>C" "" "benign" "" "0000337701" "0" "10" "6" "32007993" "32007993" "subst" "0.0142443" "02327" "CYP21A2_000070" "g.32007993G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040216G>C" "" "benign" "" "0000337702" "0" "10" "6" "32008924" "32008924" "subst" "0.0250359" "02327" "CYP21A2_000079" "g.32008924G>A" "" "" "" "CYP21A2(NM_000500.9):c.*13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041147G>A" "" "benign" "" "0000337703" "0" "10" "6" "32008963" "32008963" "subst" "0.550429" "02327" "CYP21A2_000055" "g.32008963C>T" "" "" "" "TNXB(NM_019105.8):c.*163G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041186C>T" "" "benign" "" "0000339193" "0" "10" "6" "32008896" "32008896" "subst" "2.96324E-5" "02327" "CYP21A2_000076" "g.32008896G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041119G>A" "" "benign" "" "0000339816" "0" "30" "6" "32006320" "32006320" "subst" "0" "02327" "CYP21A2_000106" "g.32006320C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32038543C>T" "" "likely benign" "" "0000339817" "0" "10" "6" "32006896" "32006896" "subst" "0.00189152" "02327" "CYP21A2_000108" "g.32006896G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32039119G>A" "" "benign" "" "0000339818" "0" "10" "6" "32007579" "32007579" "subst" "4.88707E-5" "02327" "CYP21A2_000041" "g.32007579T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32039802T>C" "" "benign" "" "0000339819" "0" "10" "6" "32007790" "32007790" "subst" "0.124898" "02327" "CYP21A2_000050" "g.32007790C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040013C>G" "" "benign" "" "0000339820" "0" "30" "6" "32008317" "32008317" "subst" "6.92419E-5" "02327" "CYP21A2_000072" "g.32008317C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040540C>T" "" "likely benign" "" "0000339821" "0" "10" "6" "32008451" "32008451" "subst" "0.180555" "02327" "CYP21A2_000074" "g.32008451C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040674C>T" "" "benign" "" "0000339822" "0" "30" "6" "32008711" "32008711" "subst" "0.000710028" "02327" "CYP21A2_000119" "g.32008711C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040934C>T" "" "likely benign" "" "0000341677" "0" "10" "6" "32006886" "32006886" "subst" "0.317914" "02327" "CYP21A2_000021" "g.32006886G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32039109G>A" "" "benign" "" "0000342619" "0" "90" "6" "32008192" "32008192" "subst" "0" "02327" "CYP21A2_000115" "g.32008192C>T" "" "" "" "CYP21A2(NM_000500.9):c.949C>T (p.R317*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040415C>T" "" "pathogenic" "" "0000342724" "0" "90" "6" "32008312" "32008312" "subst" "0" "02327" "CYP21A2_000116" "g.32008312C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040535C>T" "" "pathogenic" "" "0000342981" "0" "90" "6" "32008874" "32008874" "subst" "0.000315909" "02327" "CYP21A2_000075" "g.32008874G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041097G>C" "" "pathogenic" "" "0000343742" "0" "70" "6" "32008490" "32008490" "subst" "0" "02327" "CYP21A2_000118" "g.32008490C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040713C>A" "" "likely pathogenic" "" "0000343966" "0" "10" "6" "32007325" "32007325" "subst" "0.00139163" "02327" "CYP21A2_000028" "g.32007325C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32039548C>G" "" "benign" "" "0000344763" "0" "90" "6" "32008198" "32008198" "subst" "9.41589E-5" "02327" "CYP21A2_000071" "g.32008198C>T" "" "" "" "CYP21A2(NM_000500.7):c.955C>T (p.(Gln319*)), CYP21A2(NM_001128590.4):c.865C>T (p.Q289*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040421C>T" "" "pathogenic" "" "0000346039" "0" "90" "6" "32008452" "32008452" "subst" "4.34145E-6" "02327" "CYP21A2_000117" "g.32008452G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040675G>A" "" "pathogenic" "" "0000346074" "0" "70" "6" "32008714" "32008714" "subst" "0" "02327" "CYP21A2_000120" "g.32008714G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040937G>A" "" "likely pathogenic" "" "0000346173" "0" "70" "6" "32006368" "32006368" "subst" "6.18406E-6" "02327" "CYP21A2_000107" "g.32006368G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32038591G>A" "" "likely pathogenic" "" "0000347088" "0" "70" "6" "32007944" "32007944" "subst" "4.15093E-6" "02327" "CYP21A2_000052" "g.32007944C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040167C>T" "" "likely pathogenic" "" "0000347152" "0" "10" "6" "32006317" "32006317" "subst" "0.794572" "02327" "CYP21A2_000059" "g.32006317C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32038540C>T" "" "benign" "" "0000347802" "0" "70" "6" "32007893" "32007893" "subst" "3.72918E-5" "02327" "CYP21A2_000096" "g.32007893A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040116A>G" "" "likely pathogenic" "" "0000348689" "0" "90" "6" "32006955" "32006955" "subst" "0" "02327" "CYP21A2_000110" "g.32006955C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32039178C>G" "" "pathogenic" "" "0000348891" "0" "10" "6" "32007849" "32007849" "subst" "0.129387" "02327" "CYP21A2_000001" "g.32007849G>C" "" "" "" "CYP21A2(NM_000500.9):c.806G>C (p.S269T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040072G>C" "" "benign" "" "0000348922" "0" "90" "6" "32007948" "32007948" "subst" "0" "02327" "CYP21A2_000112" "g.32007948C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040171C>A" "" "pathogenic" "" "0000349055" "0" "10" "6" "32008904" "32008904" "subst" "0.000344502" "02327" "CYP21A2_000077" "g.32008904G>A" "" "" "" "CYP21A2(NM_000500.9):c.1481G>A (p.(Ser494Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32041127G>A" "" "benign" "" "0000349735" "0" "30" "6" "32006263" "32006263" "subst" "0" "02327" "CYP21A2_000105" "g.32006263T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32038486T>C" "" "likely benign" "" "0000350421" "0" "50" "6" "32007792" "32007792" "subst" "6.16873E-5" "02327" "CYP21A2_000111" "g.32007792T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040015T>C" "" "VUS" "" "0000351101" "0" "30" "6" "32006079" "32006079" "subst" "0" "02327" "CYP21A2_000103" "g.32006079C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32038302C>T" "" "likely benign" "" "0000351102" "0" "50" "6" "32006097" "32006097" "subst" "0" "02327" "CYP21A2_000091" "g.32006097A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32038320A>G" "" "VUS" "" "0000351103" "0" "10" "6" "32006337" "32006337" "subst" "0.688284" "02327" "CYP21A2_000060" "g.32006337C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32038560C>A" "" "benign" "" "0000351104" "0" "10" "6" "32006597" "32006597" "subst" "0.736774" "02327" "CYP21A2_000062" "g.32006597C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32038820C>T" "" "benign" "" "0000351106" "0" "50" "6" "32007987" "32007987" "subst" "2.90676E-5" "02327" "CYP21A2_000113" "g.32007987G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32040210G>A" "" "VUS" "" "0000470944" "3" "30" "6" "32024374" "32024374" "subst" "0.00997977" "00006" "TNXB_000084" "g.32024374A>G" "" "{PMID:van Kuilenburg 2018:2969193}, {DOI:van Kuilenburg 2018:10.1002/humu.23538}" "" "" "" "Germline" "" "rs28361051" "0" "" "" "g.32056597A>G" "" "likely benign" "" "0000528359" "0" "70" "6" "32006074" "32006074" "subst" "0" "02327" "CYP21A2_000088" "g.32006074C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32038297C>T" "" "likely pathogenic" "" "0000528360" "0" "30" "6" "32006192" "32006192" "subst" "0.00044458" "02327" "C4B_000013" "g.32006192G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32038415G>A" "" "likely benign" "" "0000528361" "0" "50" "6" "32006248" "32006248" "subst" "1.11057E-5" "01943" "C4B_000014" "g.32006248C>T" "" "" "" "CYP21A2(NM_000500.9):c.49C>T (p.R17C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32038471C>T" "" "VUS" "" "0000528362" "0" "90" "6" "32006259" "32006259" "subst" "0" "02327" "C4B_000015" "g.32006259G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32038482G>A" "" "pathogenic" "" "0000528364" "0" "30" "6" "32006341" "32006341" "subst" "0" "02327" "C4B_000017" "g.32006341T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32038564T>C" "" "likely benign" "" "0000528366" "0" "10" "6" "32006855" "32006855" "subst" "0" "02325" "C4B_000018" "g.32006855C>A" "" "" "" "CYP21A2(NM_000500.9):c.293-16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32039078C>A" "" "benign" "" "0000528367" "0" "50" "6" "32006864" "32006864" "subst" "6.66525E-5" "02327" "C4B_000019" "g.32006864C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32039087C>G" "" "VUS" "" "0000528369" "0" "90" "6" "32006999" "32006999" "subst" "5.09746E-6" "02327" "C4B_000020" "g.32006999G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32039222G>A" "" "pathogenic" "" "0000528372" "0" "90" "6" "32007359" "32007359" "subst" "0" "02327" "C4B_000021" "g.32007359C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32039582C>T" "" "pathogenic" "" "0000528373" "0" "50" "6" "32007548" "32007548" "subst" "1.22877E-5" "02327" "C4B_000022" "g.32007548G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32039771G>A" "" "VUS" "" "0000528374" "0" "90" "6" "32007782" "32007782" "subst" "0" "02327" "C4B_000023" "g.32007782G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32040005G>T" "" "pathogenic" "" "0000528375" "0" "90" "6" "32007887" "32007887" "subst" "0.00489488" "01804" "CYP21A2_000051" "g.32007887G>T" "" "" "" "CYP21A2(NM_000500.7):c.844G>T (p.(Val282Leu)), CYP21A2(NM_000500.9):c.844G>T (p.V282L), CYP21A2(NM_001368143.2):c.439G>T (p.V147L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32040110G>T" "" "pathogenic" "" "0000528376" "0" "90" "6" "32008192" "32008192" "subst" "0" "02325" "CYP21A2_000115" "g.32008192C>T" "" "" "" "CYP21A2(NM_000500.9):c.949C>T (p.R317*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32040415C>T" "" "pathogenic" "" "0000528377" "0" "90" "6" "32008198" "32008198" "subst" "9.41589E-5" "01804" "CYP21A2_000071" "g.32008198C>T" "" "" "" "CYP21A2(NM_000500.7):c.955C>T (p.(Gln319*)), CYP21A2(NM_001128590.4):c.865C>T (p.Q289*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32040421C>T" "" "pathogenic" "" "0000528378" "0" "50" "6" "32008262" "32008262" "subst" "0" "02327" "CYP21A2_000162" "g.32008262G>A" "" "" "" "CYP21A2(NM_000500.7):c.1019G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32040485G>A" "" "VUS" "" "0000528379" "0" "30" "6" "32008293" "32008293" "subst" "0.000505508" "01943" "TNXB_000186" "g.32008293C>T" "" "" "" "CYP21A2(NM_000500.9):c.1050C>T (p.I350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32040516C>T" "" "likely benign" "" "0000528382" "0" "90" "6" "32008342" "32008342" "subst" "0.000274437" "02327" "TNXB_000188" "g.32008342C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32040565C>T" "" "pathogenic" "" "0000528383" "0" "50" "6" "32008343" "32008343" "subst" "5.33377E-5" "02327" "TNXB_000189" "g.32008343G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32040566G>A" "" "VUS" "" "0000528384" "0" "70" "6" "32008481" "32008483" "del" "0" "02327" "TNXB_000190" "g.32008481_32008483del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32040704_32040706del" "" "likely pathogenic" "" "0000528385" "0" "50" "6" "32008500" "32008500" "subst" "0.00927294" "01804" "CYP21A2_000004" "g.32008500G>A" "" "" "" "CYP21A2(NM_000500.7):c.1174G>A (p.(Ala392Thr)), CYP21A2(NM_000500.9):c.1174G>A (p.A392T), CYP21A2(NM_001128590.3):c.1084G>A (p.A362T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32040723G>A" "" "VUS" "" "0000528386" "0" "10" "6" "32008505" "32008505" "subst" "0.00181759" "01943" "TNXB_000191" "g.32008505C>G" "" "" "" "CYP21A2(NM_000500.9):c.1179C>G (p.H393Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32040728C>G" "" "benign" "" "0000528387" "0" "50" "6" "32008505" "32008505" "subst" "0.00181759" "02327" "TNXB_000191" "g.32008505C>G" "" "" "" "CYP21A2(NM_000500.9):c.1179C>G (p.H393Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32040728C>G" "" "VUS" "" "0000528388" "0" "30" "6" "32008520" "32008520" "subst" "0" "01943" "TNXB_000192" "g.32008520C>T" "" "" "" "CYP21A2(NM_000500.9):c.1194C>T (p.V398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32040743C>T" "" "likely benign" "" "0000528389" "0" "90" "6" "32008544" "32008544" "subst" "0" "02327" "TNXB_000193" "g.32008544G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32040767G>A" "" "pathogenic" "" "0000528390" "0" "30" "6" "32008555" "32008555" "subst" "0.000242977" "01943" "TNXB_000194" "g.32008555G>A" "" "" "" "CYP21A2(NM_000500.9):c.1222+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32040778G>A" "" "likely benign" "" "0000528391" "0" "70" "6" "32008721" "32008721" "subst" "3.09713E-5" "02327" "TNXB_000195" "g.32008721C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32040944C>T" "" "likely pathogenic" "" "0000528394" "0" "50" "6" "32009589" "32009589" "subst" "0" "01804" "TNXB_000196" "g.32009589C>T" "" "" "" "TNXB(NM_019105.6):c.12586G>A (p.(Ala4196Thr)), TNXB(NM_019105.8):c.12586G>A (p.A4196T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32041812C>T" "" "VUS" "" "0000528395" "0" "10" "6" "32009787" "32009787" "subst" "0.0116124" "01943" "TNXB_000197" "g.32009787A>G" "" "" "" "TNXB(NM_019105.6):c.12463+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32042010A>G" "" "benign" "" "0000528396" "0" "50" "6" "32009787" "32009787" "subst" "0.0116124" "01804" "TNXB_000197" "g.32009787A>G" "" "" "" "TNXB(NM_019105.6):c.12463+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32042010A>G" "" "VUS" "" "0000528397" "0" "30" "6" "32009879" "32009879" "subst" "5.7006E-5" "02329" "TNXB_000198" "g.32009879C>T" "" "" "" "TNXB(NM_019105.8):c.12373G>A (p.E4125K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32042102C>T" "" "likely benign" "" "0000528398" "0" "10" "6" "32010016" "32010016" "subst" "0.102352" "02329" "TNXB_000199" "g.32010016G>C" "" "" "" "TNXB(NM_019105.8):c.12301+27C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32042239G>C" "" "benign" "" "0000528399" "0" "10" "6" "32010193" "32010193" "dup" "0" "02329" "TNXB_000200" "g.32010193dup" "" "" "" "TNXB(NM_019105.8):c.12204+39dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32042416dup" "" "benign" "" "0000528400" "0" "30" "6" "32010272" "32010272" "subst" "0.321001" "02329" "TNXB_000201" "g.32010272T>A" "" "" "" "TNXB(NM_019105.8):c.12164A>T (p.N4055I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32042495T>A" "" "likely benign" "" "0000528401" "0" "30" "6" "32010625" "32010625" "subst" "0.00184426" "02329" "TNXB_000202" "g.32010625G>C" "" "" "" "TNXB(NM_019105.8):c.11920-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32042848G>C" "" "likely benign" "" "0000528402" "0" "30" "6" "32010721" "32010721" "subst" "8.11129E-5" "02329" "TNXB_000203" "g.32010721G>A" "" "" "" "TNXB(NM_019105.8):c.11919+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32042944G>A" "" "likely benign" "" "0000528404" "0" "30" "6" "32011344" "32011344" "subst" "0" "02329" "TNXB_000204" "g.32011344G>A" "" "" "" "TNXB(NM_019105.8):c.11525-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32043567G>A" "" "likely benign" "" "0000528405" "0" "10" "6" "32011369" "32011369" "subst" "0.132905" "02329" "TNXB_000205" "g.32011369G>T" "" "" "" "TNXB(NM_019105.8):c.11525-36C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32043592G>T" "" "benign" "" "0000528406" "0" "50" "6" "32011883" "32011883" "subst" "0" "02329" "TNXB_000206" "g.32011883G>A" "" "" "" "TNXB(NM_019105.8):c.11281C>T (p.Q3761*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32044106G>A" "" "VUS" "" "0000528407" "0" "30" "6" "32012461" "32012461" "subst" "0.0385631" "02329" "TNXB_000207" "g.32012461A>C" "" "" "" "TNXB(NM_019105.8):c.10954T>G (p.S3652A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32044684A>C" "" "likely benign" "" "0000528408" "0" "30" "6" "32012771" "32012771" "subst" "8.59277E-5" "02329" "TNXB_000208" "g.32012771G>A" "" "" "" "TNXB(NM_019105.8):c.10921+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32044994G>A" "" "likely benign" "" "0000528409" "0" "50" "6" "32012816" "32012816" "subst" "0" "01943" "TNXB_000209" "g.32012816G>A" "" "" "" "TNXB(NM_019105.6):c.10888C>T (p.R3630C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32045039G>A" "" "VUS" "" "0000528410" "0" "30" "6" "32012898" "32012898" "subst" "0.00011222" "01943" "TNXB_000210" "g.32012898G>A" "" "" "" "TNXB(NM_019105.6):c.10806C>T (p.G3602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32045121G>A" "" "likely benign" "" "0000528411" "0" "50" "6" "32012932" "32012932" "subst" "4.98136E-5" "01943" "TNXB_000211" "g.32012932G>A" "" "" "" "TNXB(NM_019105.6):c.10772C>T (p.T3591M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32045155G>A" "" "VUS" "" "0000528412" "0" "30" "6" "32013037" "32013037" "subst" "0.0232457" "01804" "TNXB_000059" "g.32013037C>T" "" "" "" "TNXB(NM_019105.6):c.10667G>A (p.(Arg3556His)), TNXB(NM_019105.8):c.10667G>A (p.R3556H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32045260C>T" "" "likely benign" "" "0000528413" "0" "30" "6" "32014046" "32014046" "subst" "0" "02329" "TNXB_000212" "g.32014046T>C" "" "" "" "TNXB(NM_019105.8):c.10506A>G (p.V3502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32046269T>C" "" "likely benign" "" "0000528414" "0" "50" "6" "32014152" "32014152" "subst" "2.08158E-5" "01943" "TNXB_000213" "g.32014152C>A" "" "" "" "TNXB(NM_019105.6):c.10400G>T (p.W3467L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32046375C>A" "" "VUS" "" "0000528415" "0" "10" "6" "32017035" "32017035" "subst" "0.00635226" "02329" "TNXB_000214" "g.32017035C>T" "" "" "" "TNXB(NM_019105.8):c.9751+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32049258C>T" "" "benign" "" "0000528416" "0" "10" "6" "32017376" "32017378" "del" "0" "02329" "TNXB_000215" "g.32017376_32017378del" "" "" "" "TNXB(NM_019105.8):c.9434-12_9434-10delTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32049599_32049601del" "" "benign" "" "0000528417" "0" "30" "6" "32017767" "32017767" "subst" "0.000689029" "02329" "TNXB_000216" "g.32017767T>C" "" "" "" "TNXB(NM_019105.8):c.9433+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32049990T>C" "" "likely benign" "" "0000528418" "0" "30" "6" "32017869" "32017869" "subst" "0" "01943" "TNXB_000217" "g.32017869G>A" "" "" "" "TNXB(NM_019105.6):c.9339C>T (p.I3113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32050092G>A" "" "likely benign" "" "0000528419" "0" "30" "6" "32018110" "32018110" "subst" "0.0002204" "02329" "TNXB_000218" "g.32018110C>T" "" "" "" "TNXB(NM_019105.8):c.9110-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32050333C>T" "" "likely benign" "" "0000528421" "0" "10" "6" "32021414" "32021414" "subst" "0.0253053" "02329" "TNXB_000219" "g.32021414C>T" "" "" "" "TNXB(NM_019105.8):c.8536G>A (p.G2846R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32053637C>T" "" "benign" "" "0000528424" "0" "30" "6" "32023954" "32023954" "subst" "4.20062E-5" "01943" "TNXB_000221" "g.32023954G>A" "" "" "" "TNXB(NM_019105.6):c.8144-3C>T, TNXB(NM_019105.8):c.8144-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32056177G>A" "" "likely benign" "" "0000528425" "0" "30" "6" "32024369" "32024369" "subst" "4.13254E-6" "01943" "TNXB_000222" "g.32024369C>A" "" "" "" "TNXB(NM_019105.6):c.8137G>T (p.V2713L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32056592C>A" "" "likely benign" "" "0000528426" "0" "50" "6" "32024494" "32024494" "subst" "0.000366108" "01943" "TNXB_000223" "g.32024494G>A" "" "" "" "TNXB(NM_019105.6):c.8012C>T (p.A2671V), TNXB(NM_019105.8):c.8012C>T (p.A2671V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32056717G>A" "" "VUS" "" "0000528427" "0" "30" "6" "32024494" "32024494" "subst" "0.000366108" "02329" "TNXB_000223" "g.32024494G>A" "" "" "" "TNXB(NM_019105.6):c.8012C>T (p.A2671V), TNXB(NM_019105.8):c.8012C>T (p.A2671V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32056717G>A" "" "likely benign" "" "0000528428" "0" "30" "6" "32024617" "32024617" "subst" "0.000144124" "02329" "TNXB_000224" "g.32024617C>T" "" "" "" "TNXB(NM_019105.8):c.7889G>A (p.R2630H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32056840C>T" "" "likely benign" "" "0000528429" "0" "10" "6" "32025980" "32025980" "subst" "0.0819156" "02329" "TNXB_000225" "g.32025980G>A" "" "" "" "TNXB(NM_019105.8):c.7680C>T (p.D2560=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32058203G>A" "" "benign" "" "0000528430" "0" "10" "6" "32029166" "32029166" "subst" "0.00176396" "01943" "TNXB_000099" "g.32029166C>T" "" "" "" "TNXB(NM_019105.6):c.7492+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32061389C>T" "" "benign" "" "0000528431" "0" "50" "6" "32029396" "32029396" "subst" "0" "01943" "TNXB_000226" "g.32029396G>T" "" "" "" "TNXB(NM_019105.6):c.7270C>A (p.P2424T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32061619G>T" "" "VUS" "" "0000528433" "0" "30" "6" "32032629" "32032629" "subst" "2.49377E-5" "02329" "TNXB_000227" "g.32032629G>A" "" "" "" "TNXB(NM_019105.8):c.6810C>T (p.R2270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32064852G>A" "" "likely benign" "" "0000528434" "0" "50" "6" "32032790" "32032790" "subst" "0.00111308" "02327" "TNXB_000116" "g.32032790G>T" "" "" "" "TNXB(NM_019105.8):c.6649C>A (p.P2217T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32065013G>T" "" "VUS" "" "0000528435" "0" "10" "6" "32035634" "32035634" "subst" "0.00672559" "02329" "TNXB_000228" "g.32035634G>A" "" "" "" "TNXB(NM_019105.8):c.6348C>T (p.T2116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32067857G>A" "" "benign" "" "0000528437" "0" "30" "6" "32036157" "32036157" "subst" "0" "02329" "TNXB_000230" "g.32036157A>G" "" "" "" "TNXB(NM_019105.8):c.6220+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32068380A>G" "" "likely benign" "" "0000528438" "0" "30" "6" "32036303" "32036303" "subst" "0" "02329" "TNXB_000231" "g.32036303G>A" "" "" "" "TNXB(NM_019105.8):c.6084C>T (p.P2028=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32068526G>A" "" "likely benign" "" "0000528439" "0" "30" "6" "32036441" "32036441" "subst" "2.03522E-5" "02329" "TNXB_000232" "g.32036441G>A" "" "" "" "TNXB(NM_019105.8):c.5946C>T (p.P1982=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32068664G>A" "" "likely benign" "" "0000528440" "0" "30" "6" "32037429" "32037429" "subst" "0.00072866" "01943" "TNXB_000233" "g.32037429T>G" "" "" "" "TNXB(NM_019105.6):c.5488A>C (p.S1830R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32069652T>G" "" "likely benign" "" "0000528441" "0" "70" "6" "32038072" "32038073" "del" "0" "02329" "TNXB_000133" "g.32038072_32038073del" "" "" "" "TNXB(NM_019105.8):c.5111_5112delTT (p.F1704Cfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32070295_32070296del" "" "likely pathogenic" "" "0000528442" "0" "30" "6" "32039793" "32039793" "subst" "0" "01943" "TNXB_000234" "g.32039793C>T" "" "" "" "TNXB(NM_019105.6):c.4964G>A (p.S1655N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32072016C>T" "" "likely benign" "" "0000528444" "0" "30" "6" "32041431" "32041431" "subst" "1.6682E-5" "01943" "TNXB_000235" "g.32041431G>A" "" "" "" "TNXB(NM_019105.6):c.4674C>T (p.I1558=), TNXB(NM_019105.8):c.4674C>T (p.I1558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32073654G>A" "" "likely benign" "" "0000528445" "0" "70" "6" "32041555" "32041572" "del" "0" "02329" "TNXB_000236" "g.32041555_32041572del" "" "" "" "TNXB(NM_019105.8):c.4535_4552delACGGGCAGCCCCAGGTGG (p.D1512_V1517del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32073778_32073795del" "" "likely pathogenic" "" "0000528447" "0" "30" "6" "32046862" "32046862" "subst" "2.04646E-5" "01943" "TNXB_000238" "g.32046862G>A" "" "" "" "TNXB(NM_019105.6):c.4323C>T (p.Y1441=), TNXB(NM_019105.8):c.4323C>T (p.Y1441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32079085G>A" "" "likely benign" "" "0000528448" "0" "30" "6" "32046862" "32046862" "subst" "2.04646E-5" "02329" "TNXB_000238" "g.32046862G>A" "" "" "" "TNXB(NM_019105.6):c.4323C>T (p.Y1441=), TNXB(NM_019105.8):c.4323C>T (p.Y1441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32079085G>A" "" "likely benign" "" "0000528449" "0" "50" "6" "32049177" "32049177" "subst" "0.000350449" "02327" "TNXB_000239" "g.32049177C>T" "" "" "" "TNXB(NM_019105.8):c.4010G>A (p.R1337H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32081400C>T" "" "VUS" "" "0000528450" "0" "10" "6" "32049423" "32049423" "subst" "0.076951" "02329" "TNXB_000240" "g.32049423C>T" "" "" "" "TNXB(NM_019105.8):c.3764G>A (p.R1255H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32081646C>T" "" "benign" "" "0000528451" "0" "10" "6" "32052216" "32052216" "subst" "0.0155019" "02329" "TNXB_000241" "g.32052216C>T" "" "" "" "TNXB(NM_019105.8):c.3419G>A (p.G1140D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32084439C>T" "" "benign" "" "0000528452" "0" "50" "6" "32053892" "32053892" "subst" "0.000392691" "02329" "TNXB_000242" "g.32053892G>T" "" "" "" "TNXB(NM_019105.8):c.2783C>A (p.S928Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32086115G>T" "" "VUS" "" "0000528453" "0" "10" "6" "32056580" "32056580" "subst" "0.13592" "02329" "TNXB_000243" "g.32056580A>C" "" "" "" "TNXB(NM_019105.8):c.2761T>G (p.S921A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32088803A>C" "" "benign" "" "0000528454" "0" "90" "6" "32057054" "32057054" "subst" "2.04127E-5" "01943" "TNXB_000033" "g.32057054G>A" "" "" "" "TNXB(NM_019105.6):c.2461C>T (p.R821*), TNXB(NM_019105.8):c.2461C>T (p.R821*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32089277G>A" "" "pathogenic" "" "0000528455" "0" "30" "6" "32057142" "32057142" "subst" "0.00214118" "02329" "TNXB_000244" "g.32057142G>A" "" "" "" "TNXB(NM_019105.8):c.2373C>T (p.S791=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32089365G>A" "" "likely benign" "" "0000528456" "0" "30" "6" "32063600" "32063600" "subst" "0.00222458" "01943" "TNXB_000160" "g.32063600T>C" "" "" "" "TNXB(NM_019105.6):c.2030A>G (p.D677G), TNXB(NM_019105.8):c.2030A>G (p.D677G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32095823T>C" "" "likely benign" "" "0000528458" "0" "50" "6" "32063891" "32063891" "subst" "1.78784E-5" "01943" "TNXB_000245" "g.32063891T>C" "" "" "" "TNXB(NM_019105.6):c.1739A>G (p.Y580C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32096114T>C" "" "VUS" "" "0000528459" "0" "10" "6" "32064161" "32064161" "subst" "0.0114779" "02329" "TNXB_000246" "g.32064161C>T" "" "" "" "TNXB(NM_019105.8):c.1469G>A (p.R490Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32096384C>T" "" "benign" "" "0000528460" "0" "30" "6" "32064328" "32064328" "subst" "0.000529857" "02329" "TNXB_000247" "g.32064328G>C" "" "" "" "TNXB(NM_019105.8):c.1302C>G (p.A434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32096551G>C" "" "likely benign" "" "0000528461" "0" "50" "6" "32064572" "32064572" "subst" "0" "02329" "TNXB_000248" "g.32064572A>T" "" "" "" "TNXB(NM_019105.8):c.1058T>A (p.V353E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32096795A>T" "" "VUS" "" "0000528462" "0" "10" "6" "32064726" "32064726" "subst" "0.0589531" "02329" "TNXB_000249" "g.32064726T>C" "" "" "" "TNXB(NM_019105.8):c.904A>G (p.T302A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32096949T>C" "" "benign" "" "0000528463" "0" "50" "6" "32065025" "32065025" "dup" "0" "01943" "TNXB_000250" "g.32065025dup" "" "" "" "TNXB(NM_019105.6):c.605dupG (p.C202Wfs*59)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32097248dup" "" "VUS" "" "0000528464" "0" "10" "6" "32065113" "32065113" "subst" "0.0349207" "02329" "TNXB_000251" "g.32065113C>T" "" "" "" "TNXB(NM_019105.8):c.517G>A (p.A173T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32097336C>T" "" "benign" "" "0000528465" "0" "30" "6" "32065219" "32065219" "subst" "4.32006E-6" "02329" "TNXB_000252" "g.32065219T>C" "" "" "" "TNXB(NM_019105.8):c.411A>G (p.T137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32097442T>C" "" "likely benign" "" "0000591583" "3" "90" "6" "32037555" "32037555" "del" "0" "02284" "TNXB_000253" "g.32037555del" "" "{PMID:Rymen 2019:31731524}, {DOI:Rymen 2019:10.3390/genes10110843}" "" "" "qPCR analysis on cDNA obtained from patient’s dermal fibroblast showed that the transcript with the c.5362del, p.(Thr1788Profs*100) variant undergoes nonsense-mediated mRNA decay." "Germline" "" "" "0" "" "" "g.32069778del" "" "pathogenic" "ACMG" "0000598484" "0" "70" "6" "32023817" "32023817" "subst" "0" "02544" "TNXB_000022" "g.32023817G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.32056040G>A" "" "likely pathogenic" "" "0000598485" "20" "70" "6" "32056561" "32057157" "del" "0" "02544" "TNXB_000254" "g.(32053896_32056561)_(32057157_32062852)del" "" "" "" "2359_2779del" "" "Unknown" "" "" "0" "" "" "g.(32086119_32088784)_(32089380_32095075)del" "" "pathogenic" "" "0000598486" "20" "70" "6" "32064480" "32064480" "dup" "0" "02544" "TNXB_000024" "g.32064480dup" "" "" "" "1150dupG" "" "Germline" "" "" "0" "" "" "g.32096703dup" "" "pathogenic" "" "0000598487" "10" "70" "6" "32011499" "32011618" "del" "0" "02544" "TNXB_000025" "g.32011499_32011618del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.32043722_32043841del" "" "pathogenic" "" "0000610284" "0" "70" "6" "32006951" "32006951" "subst" "0.000107496" "02327" "C4B_000027" "g.32006951C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32039174C>T" "" "likely pathogenic" "" "0000610285" "0" "70" "6" "32007220" "32007220" "subst" "0" "02327" "C4B_000028" "g.32007220G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32039443G>A" "" "likely pathogenic" "" "0000610286" "0" "90" "6" "32008500" "32008500" "subst" "0.00927294" "02325" "CYP21A2_000004" "g.32008500G>A" "" "" "" "CYP21A2(NM_000500.7):c.1174G>A (p.(Ala392Thr)), CYP21A2(NM_000500.9):c.1174G>A (p.A392T), CYP21A2(NM_001128590.3):c.1084G>A (p.A362T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32040723G>A" "" "pathogenic" "" "0000610287" "0" "90" "6" "32008783" "32008783" "subst" "0.0045488" "01943" "CYP21A2_000005" "g.32008783C>T" "" "" "" "CYP21A2(NM_000500.9):c.1360C>T (p.P454S), CYP21A2(NM_001128590.4):c.1270C>T (p.P424S), CYP21A2(NM_001368143.2):c.955C>T (p.P319S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32041006C>T" "" "pathogenic" "" "0000610288" "0" "90" "6" "32008783" "32008783" "subst" "0.0045488" "02325" "CYP21A2_000005" "g.32008783C>T" "" "" "" "CYP21A2(NM_000500.9):c.1360C>T (p.P454S), CYP21A2(NM_001128590.4):c.1270C>T (p.P424S), CYP21A2(NM_001368143.2):c.955C>T (p.P319S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32041006C>T" "" "pathogenic" "" "0000610289" "0" "90" "6" "32009622" "32009622" "subst" "3.15124E-5" "02327" "TNXB_000029" "g.32009622G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32041845G>A" "" "pathogenic" "" "0000610290" "0" "50" "6" "32009814" "32009814" "subst" "0" "01943" "TNXB_000259" "g.32009814G>T" "" "" "" "TNXB(NM_019105.6):c.12438C>A (p.H4146Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32042037G>T" "" "VUS" "" "0000610291" "0" "30" "6" "32038118" "32038118" "subst" "0" "01943" "TNXB_000260" "g.32038118G>A" "" "" "" "TNXB(NM_019105.6):c.5064C>T (p.D1688=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32070341G>A" "" "likely benign" "" "0000610292" "0" "90" "6" "32056751" "32056751" "subst" "0" "02327" "TNXB_000030" "g.32056751G>A" "" "" "" "TNXB(NM_001365276.2):c.2590C>T (p.(Gln864*)), TNXB(NM_019105.8):c.2590C>T (p.Q864*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32088974G>A" "" "pathogenic" "" "0000621691" "0" "30" "6" "32006248" "32006248" "subst" "0" "01943" "C4B_000025" "g.32006248C>G" "" "" "" "CYP21A2(NM_001128590.3):c.49C>G (p.R17G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32038471C>G" "" "likely benign" "" "0000621692" "0" "50" "6" "32006303" "32006303" "subst" "0.000459926" "01943" "C4B_000026" "g.32006303C>T" "" "" "" "CYP21A2(NM_001128590.3):c.104C>T (p.P35L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32038526C>T" "" "VUS" "" "0000621693" "0" "30" "6" "32008536" "32008536" "subst" "0" "01943" "TNXB_000257" "g.32008536G>C" "" "" "" "CYP21A2(NM_001128590.3):c.1120G>C (p.E374Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32040759G>C" "" "likely benign" "" "0000621694" "0" "90" "6" "32008870" "32008870" "subst" "0.000546001" "01943" "CYP21A2_000101" "g.32008870C>T" "" "" "" "CYP21A2(NM_000500.7):c.1447C>T (p.(Pro483Ser)), CYP21A2(NM_001128590.3):c.1357C>T (p.P453S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32041093C>T" "" "pathogenic" "" "0000630992" "21" "70" "6" "32024681" "32024681" "subst" "1.24414E-5" "03524" "TNXB_000027" "g.32024681C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32056904C>G" "" "likely pathogenic (recessive)" "ACMG" "0000630993" "0" "70" "6" "32016182" "32016182" "dup" "0" "03524" "TNXB_000261" "g.32016182dup" "" "" "" "9998dupA" "" "Germline" "" "" "0" "" "" "g.32048405dup" "" "likely pathogenic (recessive)" "ACMG" "0000651925" "1" "10" "6" "32036788" "32036788" "subst" "0.0208209" "03575" "TNXB_000127" "g.32036788C>T" "34/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "34 heterozygous, no homozygous; {DB:CLININrs17207923}" "Germline" "" "rs17207923" "0" "" "" "g.32069011C>T" "" "benign" "" "0000651926" "1" "10" "6" "32052216" "32052216" "subst" "0.0155019" "03575" "TNXB_000241" "g.32052216C>T" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs149995364}" "Germline" "" "rs149995364" "0" "" "" "g.32084439C>T" "" "benign" "" "0000651928" "1" "10" "6" "32052444" "32052444" "subst" "0.0132986" "03575" "TNXB_000152" "g.32052444C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs61995676}" "Germline" "" "rs61995676" "0" "" "" "g.32084667C>T" "" "benign" "" "0000651929" "1" "50" "6" "32063600" "32063600" "subst" "0.00222458" "03575" "TNXB_000160" "g.32063600T>C" "23/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "23 heterozygous, no homozygous; {DB:CLININrs141190850}" "Germline" "" "rs141190850" "0" "" "" "g.32095823T>C" "" "VUS" "" "0000651930" "1" "10" "6" "32063896" "32063896" "subst" "0.0222477" "03575" "TNXB_000164" "g.32063896G>A" "93/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "93 heterozygous; {DB:CLININrs41270458}" "Germline" "" "rs41270458" "0" "" "" "g.32096119G>A" "" "benign" "" "0000655562" "0" "90" "6" "32008870" "32008870" "subst" "0.000546001" "02327" "CYP21A2_000101" "g.32008870C>T" "" "" "" "CYP21A2(NM_000500.7):c.1447C>T (p.(Pro483Ser)), CYP21A2(NM_001128590.3):c.1357C>T (p.P453S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32041093C>T" "" "pathogenic" "" "0000655563" "0" "10" "6" "32012359" "32012359" "subst" "0.0323759" "02326" "TNXB_000049" "g.32012359G>C" "" "" "" "TNXB(NM_019105.8):c.11056C>G (p.R3686G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32044582G>C" "" "benign" "" "0000655564" "0" "30" "6" "32013974" "32013974" "subst" "4.18074E-6" "02329" "TNXB_000262" "g.32013974C>T" "" "" "" "TNXB(NM_019105.8):c.10578G>A (p.P3526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32046197C>T" "" "likely benign" "" "0000655565" "0" "30" "6" "32017316" "32017316" "subst" "0.00101323" "01943" "TNXB_000263" "g.32017316G>C" "" "" "" "TNXB(NM_019105.6):c.9482C>G (p.A3161G), TNXB(NM_019105.8):c.9482C>G (p.A3161G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32049539G>C" "" "likely benign" "" "0000655566" "0" "30" "6" "32029458" "32029458" "subst" "4.15148E-6" "01943" "TNXB_000264" "g.32029458A>G" "" "" "" "TNXB(NM_019105.6):c.7208T>C (p.M2403T), TNXB(NM_019105.8):c.7208T>C (p.M2403T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32061681A>G" "" "likely benign" "" "0000655567" "0" "30" "6" "32030130" "32030130" "subst" "0.000713552" "02326" "TNXB_000110" "g.32030130C>T" "" "" "" "TNXB(NM_019105.6):c.6972G>A (p.T2324=), TNXB(NM_019105.8):c.6972G>A (p.T2324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32062353C>T" "" "likely benign" "" "0000655568" "0" "30" "6" "32063600" "32063600" "subst" "0.00222458" "02326" "TNXB_000160" "g.32063600T>C" "" "" "" "TNXB(NM_019105.6):c.2030A>G (p.D677G), TNXB(NM_019105.8):c.2030A>G (p.D677G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32095823T>C" "" "likely benign" "" "0000659785" "0" "50" "6" "32036313" "32036313" "subst" "0.000909992" "01164" "TNXB_000015" "g.32036313T>A" "" "" "" "" "" "Germline" "" "rs201397168" "0" "" "" "g.32068536T>A" "" "VUS" "ACMG" "0000660101" "0" "50" "6" "32029423" "32029423" "subst" "2.48433E-5" "01164" "TNXB_000266" "g.32029423C>G" "" "" "" "" "no second variant detected in TNXB" "Germline" "" "rs768462715" "0" "" "" "g.32061646C>G" "" "VUS" "" "0000664823" "0" "50" "6" "32016239" "32016239" "subst" "0.000963554" "01164" "TNXB_000062" "g.32016239C>T" "" "" "" "" "" "Germline" "" "rs201452909" "0" "" "" "g.32048462C>T" "" "VUS" "" "0000664824" "0" "50" "6" "32064972" "32064972" "subst" "0" "01164" "TNXB_000267" "g.32064972C>T" "" "" "" "" "" "Germline" "" "rs778734003" "0" "" "" "g.32097195C>T" "" "VUS" "" "0000669901" "3" "10" "6" "32063896" "32063896" "subst" "0.0222477" "03575" "TNXB_000164" "g.32063896G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs41270458}" "Germline" "" "rs41270458" "0" "" "" "g.32096119G>A" "" "benign" "" "0000677737" "0" "30" "6" "32011274" "32011274" "subst" "0" "01943" "TNXB_000268" "g.32011274G>A" "" "" "" "TNXB(NM_019105.6):c.11584C>T (p.H3862Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677738" "0" "50" "6" "32015577" "32015577" "subst" "4.58895E-5" "01943" "TNXB_000269" "g.32015577T>C" "" "" "" "TNXB(NM_019105.6):c.10252A>G (p.R3418G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677739" "0" "30" "6" "32017187" "32017187" "subst" "0.000151767" "01943" "TNXB_000270" "g.32017187T>C" "" "" "" "TNXB(NM_019105.6):c.9611A>G (p.Q3204R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677740" "0" "50" "6" "32029315" "32029315" "subst" "5.32704E-5" "01943" "TNXB_000271" "g.32029315G>A" "" "" "" "TNXB(NM_019105.6):c.7351C>T (p.R2451W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677741" "0" "30" "6" "32041543" "32041543" "subst" "0.00248104" "02326" "TNXB_000139" "g.32041543G>A" "" "" "" "TNXB(NM_019105.6):c.4562C>T (p.A1521V), TNXB(NM_019105.8):c.4562C>T (p.A1521V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689701" "0" "30" "6" "32007840" "32007840" "subst" "0.00188298" "02327" "CYP21A2_000155" "g.32007840C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689702" "0" "50" "6" "32008640" "32008640" "subst" "4.99515E-5" "02327" "TNXB_000272" "g.32008640C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689703" "0" "30" "6" "32010461" "32010461" "subst" "0.00300272" "02326" "TNXB_000273" "g.32010461C>T" "" "" "" "TNXB(NM_019105.8):c.12052+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689704" "0" "30" "6" "32017192" "32017192" "subst" "0.00324998" "02326" "TNXB_000069" "g.32017192G>A" "" "" "" "TNXB(NM_019105.6):c.9606C>T (p.D3202=), TNXB(NM_019105.8):c.9606C>T (p.D3202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689705" "0" "30" "6" "32024552" "32024552" "subst" "0.000556934" "02326" "TNXB_000087" "g.32024552C>T" "" "" "" "TNXB(NM_001365276.2):c.7954G>A (p.(Glu2652Lys)), TNXB(NM_019105.8):c.7954G>A (p.E2652K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689706" "0" "30" "6" "32032620" "32032620" "subst" "0.00051573" "02326" "TNXB_000112" "g.32032620G>A" "" "" "" "TNXB(NM_019105.6):c.6819C>T (p.P2273=), TNXB(NM_019105.8):c.6819C>T (p.P2273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699781" "0" "50" "6" "0" "0" "" "0" "00006" "TNXB_000000" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000699822" "0" "70" "6" "32065067" "32065067" "subst" "0" "00006" "TNXB_000309" "g.32065067G>A" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.32097290G>A" "" "VUS" "" "0000701814" "0" "30" "6" "32053805" "32053805" "subst" "0" "00006" "TNXB_000274" "g.32053805T>C" "" "{PMID:Hamada 2018:30256902}" "" "" "" "De novo" "" "" "0" "" "" "g.32086028T>C" "" "likely benign" "" "0000703410" "0" "77" "6" "32065891" "32065891" "subst" "1.64909E-5" "00085" "TNXB_000012" "g.32065891G>A" "" "{PMID:Zweers et al., 2005:15733269}" "" "" "" "Unknown" "" "rs368512272" "0" "" "" "" "" "likely pathogenic" "" "0000703411" "1" "99" "6" "32065868" "32065869" "delins" "0" "00085" "TNXB_000034" "g.32065868_32065869delinsT" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703412" "1" "77" "6" "32064727" "32064727" "del" "0" "00085" "TNXB_000031" "g.32064727del" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703413" "21" "97" "6" "32064480" "32064480" "dup" "0" "00085" "TNXB_000024" "g.32064480dup" "" "{PMID:Micale et al., 2019:31775249}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703414" "3" "99" "6" "32063523" "32063524" "dup" "0" "00085" "TNXB_000002" "g.32063523_32063524dup" "" "{PMID:Schalkwijk et al., 2001:11642233}" "" "insGT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.32095746_32095747dup" "" "pathogenic (recessive)" "" "0000703415" "21" "99" "6" "0" "0" "" "0" "00085" "TNXB_000023" "g.?" "" "{PMID:Micale et al., 2019:31775249}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703416" "1" "77" "6" "32057054" "32057054" "subst" "2.04127E-5" "00085" "TNXB_000033" "g.32057054G>A" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703417" "0" "53" "6" "32056810" "32056810" "subst" "0" "03713" "TNXB_000009" "g.32056810T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000703418" "1" "99" "6" "32056802" "32056802" "subst" "4.07637E-6" "00085" "TNXB_000005" "g.32056802G>A" "" "{PMID:Sakiyama et al., 2015:25772043}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703419" "2" "77" "6" "32056751" "32056751" "subst" "0" "00085" "TNXB_000030" "g.32056751G>A" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703420" "1" "77" "6" "32056751" "32056751" "subst" "0" "00085" "TNXB_000030" "g.32056751G>A" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703421" "0" "77" "6" "32056708" "32056708" "subst" "0.000720996" "00085" "TNXB_000037" "g.32056708C>T" "" "{PMID:Tokhmafshan et al., 2020:31702543}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703422" "3" "99" "6" "32052345" "32052346" "del" "0" "00085" "TNXB_000001" "g.32052345_32052346del" "" "{PMID:Schalkwijk et al., 2001:11642233}, {PMID:Voermans et al., 2007:17588758}, {PMID:Voermans et al., 2007:17702048}" "" "delAA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.32084568_32084569del" "" "pathogenic (recessive)" "" "0000703423" "3" "99" "6" "32052345" "32052346" "del" "0" "00085" "TNXB_000001" "g.32052345_32052346del" "" "{PMID:Schalkwijk et al., 2001:11642233}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.32084568_32084569del" "" "pathogenic (recessive)" "" "0000703424" "1" "77" "6" "32052345" "32052346" "del" "0" "00085" "TNXB_000001" "g.32052345_32052346del" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "g.32084568_32084569del" "" "likely pathogenic" "" "0000703425" "0" "77" "6" "32052313" "32052313" "subst" "0.000800943" "00085" "TNXB_000014" "g.32052313C>T" "" "{PMID:Zweers et al., 2005:15733269}" "" "" "" "Unknown" "" "rs121912575" "0" "" "" "" "" "likely pathogenic" "" "0000703426" "0" "71" "6" "32050061" "32050061" "subst" "0.000658273" "00085" "TNXB_000036" "g.32050061C>T" "" "{PMID:Tokhmafshan et al., 2020:31702543}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000703427" "2" "99" "6" "32049975" "32049975" "subst" "0" "00085" "TNXB_000006" "g.32049975G>A" "" "{PMID:Sakiyama et al., 2015:25772043}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703428" "21" "97" "6" "32049912" "32049912" "subst" "1.67692E-5" "00085" "TNXB_000010" "g.32049912C>T" "" "{PMID:Mackenroth et al., 2016:26799614}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703429" "0" "99" "6" "32049196" "32049196" "subst" "0" "00085" "TNXB_000007" "g.32049196C>T" "" "{PMID:Gbadegesin et al., 2013:23620400}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703430" "0" "77" "6" "32036313" "32036313" "subst" "0.000909992" "00085" "TNXB_000015" "g.32036313T>A" "" "{PMID:Lee et al., 2014:25326637}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703431" "0" "97" "6" "32036313" "32036313" "subst" "0.000909992" "00085" "TNXB_000015" "g.32036313T>A" "" "{PMID:Kaufman and Butler, 2016:28344932}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703432" "0" "77" "6" "32035762" "32035763" "delins" "0" "00085" "TNXB_000039" "g.32035762_32035763delinsTG" "" "{PMID:Tokhmafshan et al., 2020:31702543}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703433" "0" "71" "6" "32032790" "32032790" "subst" "0" "00085" "TNXB_000038" "g.32032790G>A" "" "{PMID:Tokhmafshan et al., 2020:31702543}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000703434" "0" "55" "6" "32029318" "32029318" "subst" "0.000245994" "03718" "TNXB_000017" "g.32029318C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000703435" "0" "99" "6" "32026100" "32026100" "dup" "0" "03718" "TNXB_000016" "g.32026100dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703436" "11" "97" "6" "32025886" "32025886" "subst" "1.22828E-5" "00085" "TNXB_000011" "g.32025886C>T" "" "{PMID:Mackenroth et al., 2016:26799614}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703437" "2" "51" "6" "32025858" "32025858" "subst" "0.000525128" "00085" "TNXB_000028" "g.32025858G>A" "" "{PMID:Wang et al., 2018:30115950}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000703438" "1" "51" "6" "32024684" "32024684" "subst" "4.14993E-6" "00085" "TNXB_000027" "g.32024684G>A" "" "{PMID:Wang et al., 2018:30115950}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000703439" "2" "11" "6" "32024681" "32024681" "subst" "1.24414E-5" "00085" "TNXB_000027" "g.32024681C>G" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703440" "11" "99" "6" "32023817" "32023817" "subst" "0" "00085" "TNXB_000022" "g.32023817G>A" "" "{PMID:Micale et al., 2019:31775249}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703441" "20" "99" "6" "32016415" "32016415" "subst" "1.6918E-5" "00085" "TNXB_000008" "g.32016415G>A" "" "{PMID:Gbadegesin et al., 2013:23620400}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703442" "0" "71" "6" "32015793" "32015793" "subst" "0.00108263" "00085" "TNXB_000040" "g.32015793G>A" "" "{PMID:Tokhmafshan et al., 2020:31702543}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000703443" "0" "57" "6" "32012260" "32012260" "subst" "0.013266" "03709" "TNXB_000004" "g.32012260G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703444" "0" "99" "6" "32012260" "32012260" "subst" "0.013266" "03710" "TNXB_000004" "g.32012260G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703445" "0" "77" "6" "32012260" "32012260" "subst" "0.013266" "00085" "TNXB_000004" "g.32012260G>A" "" "{PMID:Tokhmafshan et al., 2020:31702543}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703446" "11" "77" "6" "32011496" "32011615" "del" "0" "00085" "TNXB_000025" "g.32011496_32011615del" "" "{PMID:Micale et al., 2019:31775249}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703447" "1" "11" "6" "32011496" "32011615" "del" "0" "00085" "TNXB_000025" "g.32011496_32011615del" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703448" "3" "11" "6" "32011496" "32011615" "del" "0" "00085" "TNXB_000025" "g.32011496_32011615del" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703449" "2" "11" "6" "32011496" "32011615" "del" "0" "00085" "TNXB_000025" "g.32011496_32011615del" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703450" "2" "11" "6" "32011496" "32011615" "del" "0" "00085" "TNXB_000025" "g.32011496_32011615del" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703451" "2" "11" "6" "32011496" "32011615" "del" "0" "00085" "TNXB_000025" "g.32011496_32011615del" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703452" "0" "77" "6" "32011496" "32011615" "del" "0" "00085" "TNXB_000025" "g.32011496_32011615del" "" "{PMID:Lao et al., 2019:31229653}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703453" "0" "73" "6" "32010572" "32010572" "subst" "0" "00085" "TNXB_000013" "g.32010572G>T" "" "{PMID:Zweers et al., 2005:15733269}" "" "" "" "Unknown" "" "rs7742632" "0" "" "" "" "" "VUS" "" "0000703454" "11" "77" "6" "32010262" "32010262" "subst" "2.03538E-5" "00085" "TNXB_000018" "g.32010262G>C" "" "{PMID:Morissette et al., 2015:26075496}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703455" "21" "77" "6" "32010262" "32010262" "subst" "2.03538E-5" "00085" "TNXB_000018" "g.32010262G>C" "" "{PMID:Morissette et al., 2015:26075496}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703456" "21" "77" "6" "32010262" "32010262" "subst" "2.03538E-5" "00085" "TNXB_000018" "g.32010262G>C" "" "{PMID:Morissette et al., 2015:26075496}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703457" "11" "77" "6" "32010262" "32010262" "subst" "2.03538E-5" "00085" "TNXB_000018" "g.32010262G>C" "" "{PMID:Morissette et al., 2015:26075496}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703458" "11" "77" "6" "32010262" "32010262" "subst" "2.03538E-5" "00085" "TNXB_000018" "g.32010262G>C" "" "{PMID:Morissette et al., 2015:26075496}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703459" "21" "77" "6" "32010262" "32010262" "subst" "2.03538E-5" "00085" "TNXB_000018" "g.32010262G>C" "" "{PMID:Morissette et al., 2015:26075496}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703460" "21" "77" "6" "32010262" "32010262" "subst" "2.03538E-5" "00085" "TNXB_000018" "g.32010262G>C" "" "{PMID:Morissette et al., 2015:26075496}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703461" "0" "77" "6" "32010262" "32010262" "subst" "2.03538E-5" "00085" "TNXB_000018" "g.32010262G>C" "" "{PMID:Chen et al., 2016:27297501}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703462" "11" "77" "6" "32010262" "32010262" "subst" "2.03538E-5" "00085" "TNXB_000018" "g.32010262G>C" "" "{PMID:Chen et al., 2016:27297501}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703463" "3" "77" "6" "32010262" "32010262" "subst" "2.03538E-5" "00085" "TNXB_000018" "g.32010262G>C" "" "{PMID:Chen et al., 2016:27297501}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703464" "2" "71" "6" "32010262" "32010262" "subst" "2.03538E-5" "00085" "TNXB_000018" "g.32010262G>C" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000703465" "1" "11" "6" "32010262" "32010262" "subst" "2.03538E-5" "00085" "TNXB_000018" "g.32010262G>C" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703466" "2" "11" "6" "32010262" "32010262" "subst" "2.03538E-5" "00085" "TNXB_000018" "g.32010262G>C" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703467" "2" "11" "6" "32010262" "32010262" "subst" "2.03538E-5" "00085" "TNXB_000018" "g.32010262G>C" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703468" "3" "11" "6" "32010262" "32010262" "subst" "2.03538E-5" "00085" "TNXB_000018" "g.32010262G>C" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703469" "0" "77" "6" "32010262" "32010262" "subst" "2.03538E-5" "00085" "TNXB_000018" "g.32010262G>C" "" "{PMID:Lao et al., 2019:31229653}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703470" "11" "99" "6" "32010130" "32010130" "subst" "0" "00085" "TNXB_000003" "g.32010130G>A" "" "{PMID:Pénisson-Besnier et al., 2013:23768946}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703471" "0" "71" "6" "32010130" "32010130" "subst" "0" "00085" "TNXB_000003" "g.32010130G>A" "" "{PMID:Penisson-Besnier:23768946}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000703472" "3" "71" "6" "32010126" "32010126" "subst" "0.0328531" "00085" "TNXB_000019" "g.32010126C>T" "" "{PMID:Chen et al., 2016:27297501}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000703473" "3" "77" "6" "32010126" "32010126" "subst" "0.0328531" "00085" "TNXB_000019" "g.32010126C>T" "" "{PMID:Chen et al., 2016:27297501}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703474" "2" "11" "6" "32009712" "32009712" "subst" "0" "00085" "TNXB_000032" "g.32009712C>T" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703475" "0" "71" "6" "32009663" "32009663" "subst" "8.16875E-5" "00085" "TNXB_000035" "g.32009663C>T" "" "{PMID:Tokhmafshan et al., 2020:31702543}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000703476" "3" "77" "6" "32009661" "32009661" "subst" "0" "00085" "TNXB_000020" "g.32009661C>T" "" "{PMID:Chen et al., 2016:27297501}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703477" "11" "77" "6" "32009661" "32009661" "subst" "0" "00085" "TNXB_000020" "g.32009661C>T" "" "{PMID:Chen et al., 2016:27297501}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703478" "3" "77" "6" "32009651" "32009651" "subst" "0" "00085" "TNXB_000021" "g.32009651C>T" "" "{PMID:Chen et al., 2016:27297501}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703479" "11" "77" "6" "32009651" "32009651" "subst" "0" "00085" "TNXB_000021" "g.32009651C>T" "" "{PMID:Chen et al., 2016:27297501}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703480" "1" "77" "6" "32009622" "32009622" "subst" "3.15124E-5" "00085" "TNXB_000029" "g.32009622G>A" "" "{PMID:Demirdas et al., 2016:27582382}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000720843" "0" "50" "6" "32007370" "32007370" "subst" "0.000474859" "02327" "C4B_000031" "g.32007370A>T" "" "" "" "CYP21A2(NM_000500.7):c.597A>T (p.(Leu199Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720844" "0" "90" "6" "32008783" "32008783" "subst" "0.0045488" "02329" "CYP21A2_000005" "g.32008783C>T" "" "" "" "CYP21A2(NM_000500.9):c.1360C>T (p.P454S), CYP21A2(NM_001128590.4):c.1270C>T (p.P424S), CYP21A2(NM_001368143.2):c.955C>T (p.P319S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720845" "0" "50" "6" "32010333" "32010333" "subst" "2.58129E-5" "02326" "TNXB_000310" "g.32010333C>T" "" "" "" "TNXB(NM_019105.8):c.12103G>A (p.G4035R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720846" "0" "30" "6" "32011682" "32011682" "subst" "1.2192E-5" "02329" "TNXB_000311" "g.32011682G>A" "" "" "" "TNXB(NM_019105.8):c.11381-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720847" "0" "50" "6" "32016290" "32016290" "subst" "0" "01943" "TNXB_000312" "g.32016290C>T" "" "" "" "TNXB(NM_019105.6):c.9889G>A (p.A3297T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720848" "0" "30" "6" "32017141" "32017141" "subst" "0.00199561" "02326" "TNXB_000065" "g.32017141C>T" "" "" "" "TNXB(NM_019105.8):c.9657G>A (p.V3219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720849" "0" "30" "6" "32017900" "32017900" "subst" "0.00120446" "02326" "TNXB_000074" "g.32017900C>T" "" "" "" "TNXB(NM_019105.8):c.9308G>A (p.R3103Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720850" "0" "10" "6" "32020717" "32020717" "subst" "0.0156597" "02327" "TNXB_000077" "g.32020717G>T" "" "" "" "TNXB(NM_019105.8):c.8839C>A (p.P2947T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720851" "0" "30" "6" "32035615" "32035615" "subst" "0.000665545" "02326" "TNXB_000313" "g.32035615C>T" "" "" "" "TNXB(NM_019105.8):c.6367G>A (p.D2123N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720852" "0" "30" "6" "32037914" "32037914" "subst" "0.000153749" "01943" "TNXB_000314" "g.32037914G>A" "" "" "" "TNXB(NM_019105.6):c.5268C>T (p.D1756=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720853" "0" "30" "6" "32049424" "32049424" "subst" "0.000113088" "02326" "TNXB_000145" "g.32049424G>C" "" "" "" "TNXB(NM_019105.6):c.3763C>G (p.R1255G), TNXB(NM_019105.8):c.3763C>G (p.R1255G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720854" "0" "30" "6" "32052182" "32052182" "subst" "0.00368383" "02327" "TNXB_000315" "g.32052182T>C" "" "" "" "TNXB(NM_019105.6):c.3445+8A>G, TNXB(NM_019105.8):c.3445+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720855" "0" "30" "6" "32052182" "32052182" "subst" "0.00368383" "02326" "TNXB_000315" "g.32052182T>C" "" "" "" "TNXB(NM_019105.6):c.3445+8A>G, TNXB(NM_019105.8):c.3445+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720856" "0" "10" "6" "32055699" "32055699" "subst" "0" "02327" "TNXB_000316" "g.32055699G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720857" "0" "50" "6" "32057030" "32057030" "subst" "0.0012725" "01943" "TNXB_000155" "g.32057030C>T" "" "" "" "TNXB(NM_001365276.2):c.2485G>A (p.(Gly829Ser)), TNXB(NM_019105.6):c.2485G>A (p.G829S), TNXB(NM_019105.8):c.2485G>A (p.G829S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720858" "0" "30" "6" "32065012" "32065012" "subst" "0" "02326" "TNXB_000317" "g.32065012G>A" "" "" "" "TNXB(NM_019105.8):c.618C>T (p.P206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000789634" "11" "50" "6" "32038155" "32038155" "subst" "2.08118E-5" "00006" "TNXB_000318" "g.32038155C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32070378C>T" "" "VUS" "" "0000802510" "0" "90" "6" "32007887" "32007887" "subst" "0.00489488" "02327" "CYP21A2_000051" "g.32007887G>T" "" "" "" "CYP21A2(NM_000500.7):c.844G>T (p.(Val282Leu)), CYP21A2(NM_000500.9):c.844G>T (p.V282L), CYP21A2(NM_001368143.2):c.439G>T (p.V147L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802511" "0" "30" "6" "32008370" "32008370" "subst" "1.70321E-5" "01943" "TNXB_000320" "g.32008370C>T" "" "" "" "CYP21A2(NM_001128590.3):c.1028+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802512" "0" "90" "6" "32008873" "32008873" "subst" "2.24099E-5" "02327" "TNXB_000321" "g.32008873C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802513" "0" "30" "6" "32009793" "32009793" "subst" "1.55072E-5" "02329" "TNXB_000322" "g.32009793G>A" "" "" "" "TNXB(NM_019105.8):c.12459C>T (p.T4153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802514" "0" "50" "6" "32010227" "32010227" "subst" "0.00290361" "02327" "TNXB_000292" "g.32010227C>T" "" "" "" "TNXB(NM_019105.8):c.12204+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802515" "0" "30" "6" "32014190" "32014190" "subst" "0.000852039" "02326" "TNXB_000323" "g.32014190G>A" "" "" "" "TNXB(NM_019105.8):c.10362C>T (p.T3454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802516" "0" "30" "6" "32016406" "32016406" "subst" "8.26122E-5" "01943" "TNXB_000324" "g.32016406G>A" "" "" "" "TNXB(NM_001365276.2):c.9779C>T (p.(Pro3260Leu)), TNXB(NM_019105.6):c.9773C>T (p.P3258L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802517" "0" "30" "6" "32024600" "32024600" "subst" "0.000266647" "01943" "TNXB_000090" "g.32024600T>C" "" "" "" "TNXB(NM_019105.6):c.7906A>G (p.M2636V), TNXB(NM_019105.8):c.7906A>G (p.M2636V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802518" "0" "30" "6" "32032689" "32032689" "subst" "0.000476684" "02326" "TNXB_000325" "g.32032689C>T" "" "" "" "TNXB(NM_019105.8):c.6750G>A (p.S2250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802519" "0" "30" "6" "32035430" "32035430" "subst" "0.00331812" "01943" "TNXB_000326" "g.32035430A>T" "" "" "" "TNXB(NM_019105.6):c.6544+8T>A, TNXB(NM_019105.8):c.6544+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802520" "0" "30" "6" "32038166" "32038166" "subst" "0" "02329" "TNXB_000327" "g.32038166C>G" "" "" "" "TNXB(NM_019105.8):c.5016G>C (p.G1672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802521" "0" "30" "6" "32046832" "32046832" "subst" "0.000550903" "02326" "TNXB_000328" "g.32046832C>T" "" "" "" "TNXB(NM_019105.8):c.4353G>A (p.P1451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802522" "0" "30" "6" "32046976" "32046976" "subst" "0.000816819" "02326" "TNXB_000143" "g.32046976G>A" "" "" "" "TNXB(NM_019105.8):c.4209C>T (p.T1403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802523" "0" "90" "6" "32049161" "32049164" "dup" "0" "02327" "TNXB_000329" "g.32049161_32049164dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802524" "0" "30" "6" "32052363" "32052363" "subst" "0.000469413" "02326" "TNXB_000330" "g.32052363G>T" "" "" "" "TNXB(NM_019105.8):c.3272C>A (p.S1091Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802525" "0" "30" "6" "32053694" "32053694" "subst" "0.000145368" "02326" "TNXB_000153" "g.32053694C>T" "" "" "" "TNXB(NM_019105.6):c.2981G>A (p.(Arg994His)), TNXB(NM_019105.8):c.2981G>A (p.R994H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802526" "0" "50" "6" "32056708" "32056708" "subst" "0.000720996" "01943" "TNXB_000037" "g.32056708C>T" "" "" "" "TNXB(NM_001365276.2):c.2633G>A (p.(Gly878Asp)), TNXB(NM_019105.6):c.2633G>A (p.G878D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802527" "0" "30" "6" "32057030" "32057030" "subst" "0.0012725" "02326" "TNXB_000155" "g.32057030C>T" "" "" "" "TNXB(NM_001365276.2):c.2485G>A (p.(Gly829Ser)), TNXB(NM_019105.6):c.2485G>A (p.G829S), TNXB(NM_019105.8):c.2485G>A (p.G829S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802528" "0" "50" "6" "32064371" "32064371" "subst" "2.13297E-5" "01943" "TNXB_000331" "g.32064371A>T" "" "" "" "TNXB(NM_019105.6):c.1259T>A (p.V420E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802529" "0" "50" "6" "32065765" "32065765" "subst" "0.00027232" "01943" "TNXB_000176" "g.32065765C>A" "" "" "" "TNXB(NM_019105.6):c.211G>T (p.V71L, p.(Val71Leu)), TNXB(NM_019105.8):c.211G>T (p.V71L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000831098" "11" "95" "6" "32038155" "32038155" "subst" "2.08118E-5" "04074" "TNXB_000318" "g.32038155C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32070378C>T" "" "VUS" "" "0000851171" "0" "90" "6" "32008198" "32008198" "subst" "9.41589E-5" "02325" "CYP21A2_000071" "g.32008198C>T" "" "" "" "CYP21A2(NM_000500.7):c.955C>T (p.(Gln319*)), CYP21A2(NM_001128590.4):c.865C>T (p.Q289*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851172" "0" "30" "6" "32010461" "32010461" "subst" "0.00300272" "02329" "TNXB_000273" "g.32010461C>T" "" "" "" "TNXB(NM_019105.8):c.12052+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851173" "0" "70" "6" "32015622" "32015622" "subst" "0" "01943" "TNXB_000333" "g.32015622G>A" "" "" "" "TNXB(NM_019105.6):c.10207C>T (p.Q3403*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000851174" "0" "30" "6" "32017959" "32017959" "subst" "0.00038121" "02326" "TNXB_000334" "g.32017959G>C" "" "" "" "TNXB(NM_019105.8):c.9249C>G (p.G3083=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851175" "0" "10" "6" "32018046" "32018046" "subst" "0.000680379" "02326" "TNXB_000335" "g.32018046C>T" "" "" "" "TNXB(NM_019105.8):c.9162G>A (p.E3054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851176" "0" "10" "6" "32021276" "32021276" "subst" "0.000924754" "02326" "TNXB_000336" "g.32021276C>T" "" "" "" "TNXB(NM_019105.8):c.8674G>A (p.E2892K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851177" "0" "10" "6" "32041621" "32041621" "subst" "0.00437035" "02326" "TNXB_000140" "g.32041621G>A" "" "" "" "TNXB(NM_019105.8):c.4484C>T (p.T1495I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851178" "0" "30" "6" "32049423" "32049423" "subst" "0.076951" "02326" "TNXB_000240" "g.32049423C>T" "" "" "" "TNXB(NM_019105.8):c.3764G>A (p.R1255H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851179" "0" "30" "6" "32052182" "32052182" "subst" "0.00368383" "01943" "TNXB_000315" "g.32052182T>C" "" "" "" "TNXB(NM_019105.6):c.3445+8A>G, TNXB(NM_019105.8):c.3445+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851180" "0" "30" "6" "32052358" "32052358" "subst" "0.000261711" "02326" "TNXB_000338" "g.32052358C>T" "" "" "" "TNXB(NM_019105.6):c.3277G>A (p.(Val1093Met)), TNXB(NM_019105.8):c.3277G>A (p.V1093M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851181" "0" "10" "6" "32057130" "32057130" "subst" "0.000689163" "02326" "TNXB_000339" "g.32057130T>C" "" "" "" "TNXB(NM_019105.8):c.2385A>G (p.T795=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851182" "0" "50" "6" "32062932" "32062932" "subst" "1.31627E-5" "01943" "TNXB_000340" "g.32062932A>C" "" "" "" "TNXB(NM_019105.6):c.2279T>G (p.L760W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851183" "0" "30" "6" "32063460" "32063460" "subst" "0.00144398" "02326" "TNXB_000159" "g.32063460G>A" "" "" "" "TNXB(NM_019105.8):c.2170C>T (p.R724C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851184" "0" "10" "6" "32064726" "32064726" "subst" "0.0589531" "02326" "TNXB_000249" "g.32064726T>C" "" "" "" "TNXB(NM_019105.8):c.904A>G (p.T302A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851185" "0" "30" "6" "32064955" "32064955" "subst" "0.000493319" "02326" "TNXB_000341" "g.32064955A>G" "" "" "" "TNXB(NM_019105.8):c.675T>C (p.R225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851186" "0" "30" "6" "32065765" "32065765" "subst" "0.00027232" "02326" "TNXB_000176" "g.32065765C>A" "" "" "" "TNXB(NM_019105.6):c.211G>T (p.V71L, p.(Val71Leu)), TNXB(NM_019105.8):c.211G>T (p.V71L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860294" "0" "10" "6" "32006858" "32006858" "subst" "0.636295" "02326" "CYP21A2_000018" "g.32006858C>A" "" "" "" "CYP21A2(NM_000500.9):c.293-13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860295" "0" "50" "6" "32007203" "32007203" "subst" "0.000462005" "01943" "CYP21A2_000025" "g.32007203T>A" "" "" "" "CYP21A2(NM_000500.7):c.518T>A (p.(Ile173Asn)), CYP21A2(NM_001128590.3):c.428T>A (p.I143N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860297" "0" "90" "6" "32008500" "32008500" "subst" "0.00927294" "01943" "CYP21A2_000004" "g.32008500G>A" "" "" "" "CYP21A2(NM_000500.7):c.1174G>A (p.(Ala392Thr)), CYP21A2(NM_000500.9):c.1174G>A (p.A392T), CYP21A2(NM_001128590.3):c.1084G>A (p.A362T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860298" "0" "30" "6" "32011825" "32011825" "subst" "0.000282554" "01943" "TNXB_000332" "g.32011825C>A" "" "" "" "TNXB(NM_019105.6):c.11339G>T (p.R3780L), TNXB(NM_032470.3):c.632G>T (p.(Arg211Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860299" "0" "30" "6" "32024697" "32024697" "subst" "2.91349E-5" "02326" "TNXB_000337" "g.32024697A>C" "" "" "" "TNXB(NM_019105.8):c.7826-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860300" "0" "30" "6" "32041543" "32041543" "subst" "0.00248104" "01943" "TNXB_000139" "g.32041543G>A" "" "" "" "TNXB(NM_019105.6):c.4562C>T (p.A1521V), TNXB(NM_019105.8):c.4562C>T (p.A1521V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860301" "0" "30" "6" "32063959" "32063959" "subst" "0.000401548" "02326" "TNXB_000165" "g.32063959G>A" "" "" "" "TNXB(NM_019105.8):c.1671C>T (p.R557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860302" "0" "30" "6" "32064328" "32064328" "subst" "0.000529857" "02326" "TNXB_000247" "g.32064328G>C" "" "" "" "TNXB(NM_019105.8):c.1302C>G (p.A434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000872423" "11" "90" "6" "31982572" "32009447" "del" "0" "00006" "TNXB_000000" "g.(?_31982572)_(32009447_?)del" "" "{PMID:Burch 1997:9288108}" "" "30kb deletion" "deletion 21-hydroxylase gene (CYP21A2) and partial duplication TNXB, resulting in a nonfunctional fusion gene" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872424" "11" "90" "6" "31982572" "32009447" "del" "0" "00006" "TNXB_000000" "g.(?_31982572)_(32009447_?)del" "" "{PMID:Schalkwijk 2001:11642233}" "" "30kb deletion" "no variant 2nd chromosome found" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872425" "3" "90" "6" "31982572" "32009447" "del" "0" "00006" "TNXB_000000" "g.(?_31982572)_(32009447_?)del" "" "{PMID:Schalkwijk 2001:11642233}" "" "30kb deletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000872430" "3" "90" "6" "32041694" "32041694" "del" "0" "00006" "TNXB_000342" "g.32041694del" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "Germline" "" "" "0" "" "" "g.32073917del" "" "pathogenic (recessive)" "" "0000872431" "3" "90" "6" "31982572" "32009447" "del" "0" "00006" "TNXB_000000" "g.(?_31982572)_(32009447_?)del" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "30kb deletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000873582" "0" "70" "6" "32023898" "32023898" "dup" "0" "00000" "TNXB_000344" "g.32023898dup" "200" "{PMID:Sun 2018:30076350}" "" "GSN(NM_000177.4):c.444G>T(p.E148D); COL4A4(NM_000092.4):c.930+1G>A; TNXB(NM_019105.6):c.8201_8202insC(p.E2735Terfs*1)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.32056121dup" "" "likely pathogenic" "" "0000887157" "0" "90" "6" "32007887" "32007887" "subst" "0.00489488" "02326" "CYP21A2_000051" "g.32007887G>T" "" "" "" "CYP21A2(NM_000500.7):c.844G>T (p.(Val282Leu)), CYP21A2(NM_000500.9):c.844G>T (p.V282L), CYP21A2(NM_001368143.2):c.439G>T (p.V147L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887158" "0" "30" "6" "32009641" "32009641" "subst" "0.000672233" "02326" "TNXB_000286" "g.32009641G>A" "" "" "" "TNXB(NM_019105.8):c.12534C>T (p.I4178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887159" "0" "30" "6" "32009902" "32009902" "subst" "0" "02326" "TNXB_000288" "g.32009902C>T" "" "" "" "TNXB(NM_019105.8):c.12350G>A (p.R4117H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887160" "0" "30" "6" "32009965" "32009965" "subst" "0" "02326" "TNXB_000345" "g.32009965C>T" "" "" "" "TNXB(NM_019105.8):c.12302-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887161" "0" "30" "6" "32010286" "32010286" "subst" "0.00168426" "02326" "TNXB_000346" "g.32010286G>C" "" "" "" "TNXB(NM_019105.8):c.12150C>G (p.R4050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887162" "0" "30" "6" "32010456" "32010456" "subst" "3.8474E-5" "02329" "TNXB_000347" "g.32010456G>A" "" "" "" "TNXB(NM_019105.8):c.12052+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887163" "0" "30" "6" "32010626" "32010626" "subst" "0" "02329" "TNXB_000348" "g.32010626G>A" "" "" "" "TNXB(NM_019105.8):c.11920-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887164" "0" "30" "6" "32010720" "32010720" "subst" "0.000182667" "02329" "TNXB_000349" "g.32010720C>T" "" "" "" "TNXB(NM_019105.8):c.11919+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887165" "0" "30" "6" "32011061" "32011061" "subst" "0.000325375" "02329" "TNXB_000350" "g.32011061C>T" "" "" "" "TNXB(NM_019105.8):c.11679G>A (p.A3893=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887166" "0" "30" "6" "32012771" "32012771" "subst" "8.59277E-5" "02326" "TNXB_000208" "g.32012771G>A" "" "" "" "TNXB(NM_019105.8):c.10921+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887167" "0" "30" "6" "32012897" "32012897" "subst" "0.000103894" "02326" "TNXB_000351" "g.32012897C>T" "" "" "" "TNXB(NM_019105.8):c.10807G>A (p.D3603N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887168" "0" "30" "6" "32013975" "32013975" "subst" "0.00118686" "02326" "TNXB_000352" "g.32013975G>A" "" "" "" "TNXB(NM_019105.8):c.10577C>T (p.P3526L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887169" "0" "30" "6" "32014101" "32014101" "subst" "0.000128607" "02326" "TNXB_000353" "g.32014101G>A" "" "" "" "TNXB(NM_019105.6):c.10451C>T (p.(Thr3484Met)), TNXB(NM_019105.8):c.10451C>T (p.T3484M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887170" "0" "30" "6" "32015793" "32015793" "subst" "0.00108263" "02326" "TNXB_000040" "g.32015793G>A" "" "" "" "TNXB(NM_019105.8):c.10040-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887171" "0" "30" "6" "32016239" "32016239" "subst" "0.000963554" "02326" "TNXB_000062" "g.32016239C>T" "" "" "" "TNXB(NM_019105.6):c.9940G>A (p.A3314T), TNXB(NM_019105.8):c.9940G>A (p.A3314T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887172" "0" "30" "6" "32018110" "32018110" "subst" "0.0002204" "02326" "TNXB_000218" "g.32018110C>T" "" "" "" "TNXB(NM_019105.8):c.9110-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887173" "0" "30" "6" "32020522" "32020522" "subst" "0.00399408" "02326" "TNXB_000354" "g.32020522A>G" "" "" "" "TNXB(NM_001365276.2):c.9040T>C (p.(Cys3014Arg)), TNXB(NM_019105.8):c.9034T>C (p.C3012R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887174" "0" "30" "6" "32024494" "32024494" "subst" "0.000366108" "02326" "TNXB_000223" "g.32024494G>A" "" "" "" "TNXB(NM_019105.6):c.8012C>T (p.A2671V), TNXB(NM_019105.8):c.8012C>T (p.A2671V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887175" "0" "30" "6" "32025940" "32025940" "subst" "0.00245902" "02326" "TNXB_000355" "g.32025940T>C" "" "" "" "TNXB(NM_019105.8):c.7720A>G (p.K2574E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887176" "0" "30" "6" "32029369" "32029369" "subst" "0.00218405" "02326" "TNXB_000356" "g.32029369C>T" "" "" "" "TNXB(NM_019105.8):c.7297G>A (p.V2433I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887177" "0" "30" "6" "32029369" "32029369" "subst" "0.00218405" "02329" "TNXB_000356" "g.32029369C>T" "" "" "" "TNXB(NM_019105.8):c.7297G>A (p.V2433I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887178" "0" "30" "6" "32029458" "32029458" "subst" "4.15148E-6" "02326" "TNXB_000264" "g.32029458A>G" "" "" "" "TNXB(NM_019105.6):c.7208T>C (p.M2403T), TNXB(NM_019105.8):c.7208T>C (p.M2403T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887179" "0" "30" "6" "32032790" "32032790" "subst" "0.00111308" "02326" "TNXB_000116" "g.32032790G>T" "" "" "" "TNXB(NM_019105.8):c.6649C>A (p.P2217T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887180" "0" "30" "6" "32035554" "32035554" "subst" "6.90669E-5" "02326" "TNXB_000357" "g.32035554C>T" "" "" "" "TNXB(NM_019105.8):c.6428G>A (p.G2143D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887181" "0" "10" "6" "32036755" "32036755" "subst" "0.00182117" "02326" "TNXB_000126" "g.32036755T>C" "" "" "" "TNXB(NM_019105.8):c.5746A>G (p.T1916A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887182" "0" "30" "6" "32037369" "32037369" "subst" "0.00130915" "02326" "TNXB_000358" "g.32037369C>T" "" "" "" "TNXB(NM_019105.8):c.5548G>A (p.G1850S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887183" "0" "10" "6" "32041661" "32041661" "subst" "0.00175616" "02326" "TNXB_000359" "g.32041661C>T" "" "" "" "TNXB(NM_019105.8):c.4444G>A (p.V1482M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887184" "0" "30" "6" "32049177" "32049177" "subst" "0.000350449" "02326" "TNXB_000239" "g.32049177C>T" "" "" "" "TNXB(NM_019105.8):c.4010G>A (p.R1337H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887185" "0" "30" "6" "32049429" "32049429" "subst" "0.00017947" "02326" "TNXB_000360" "g.32049429G>T" "" "" "" "TNXB(NM_019105.8):c.3758C>A (p.P1253H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887186" "0" "90" "6" "32052345" "32052346" "del" "0" "02327" "TNXB_000001" "g.32052345_32052346del" "" "" "" "TNXB(NM_019105.6):c.3290_3291delAA (p.(Lys1097fs)), TNXB(NM_019105.8):c.3290_3291delAA (p.K1097Rfs*48)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887187" "0" "90" "6" "32052345" "32052346" "del" "0" "02326" "TNXB_000001" "g.32052345_32052346del" "" "" "" "TNXB(NM_019105.6):c.3290_3291delAA (p.(Lys1097fs)), TNXB(NM_019105.8):c.3290_3291delAA (p.K1097Rfs*48)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887188" "0" "30" "6" "32053864" "32053864" "subst" "0.000967379" "02329" "TNXB_000361" "g.32053864G>T" "" "" "" "TNXB(NM_019105.8):c.2811C>A (p.T937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887189" "0" "30" "6" "32056625" "32056625" "subst" "0.00067405" "02326" "TNXB_000362" "g.32056625C>A" "" "" "" "TNXB(NM_019105.8):c.2716G>T (p.V906L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887190" "0" "30" "6" "32057142" "32057142" "subst" "0.00214118" "02326" "TNXB_000244" "g.32057142G>A" "" "" "" "TNXB(NM_019105.8):c.2373C>T (p.S791=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887191" "0" "30" "6" "32063665" "32063665" "subst" "9.72261E-5" "02326" "TNXB_000363" "g.32063665G>C" "" "" "" "TNXB(NM_019105.8):c.1965C>G (p.D655E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887192" "0" "30" "6" "32064721" "32064721" "subst" "0.0021383" "02326" "TNXB_000172" "g.32064721G>C" "" "" "" "TNXB(NM_019105.8):c.909C>G (p.G303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912462" "0" "30" "6" "32008862" "32008862" "subst" "0.00492023" "02327" "CYP21A2_000003" "g.32008862G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912463" "0" "30" "6" "32016336" "32016336" "subst" "0.00203993" "02326" "TNXB_000364" "g.32016336C>T" "" "" "" "TNXB(NM_019105.8):c.9843G>A (p.T3281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912464" "0" "30" "6" "32017316" "32017316" "subst" "0.00101323" "02326" "TNXB_000263" "g.32017316G>C" "" "" "" "TNXB(NM_019105.6):c.9482C>G (p.A3161G), TNXB(NM_019105.8):c.9482C>G (p.A3161G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912465" "0" "30" "6" "32021415" "32021415" "subst" "2.0615E-5" "02326" "TNXB_000365" "g.32021415G>C" "" "" "" "TNXB(NM_019105.8):c.8535C>G (p.L2845=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912466" "0" "30" "6" "32029249" "32029249" "subst" "0.0019633" "02326" "TNXB_000366" "g.32029249G>A" "" "" "" "TNXB(NM_019105.8):c.7417C>T (p.R2473C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912467" "0" "30" "6" "32029295" "32029295" "subst" "0" "02326" "TNXB_000367" "g.32029295A>G" "" "" "" "TNXB(NM_019105.8):c.7371T>C (p.V2457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912468" "0" "50" "6" "32036404" "32036404" "subst" "5.28344E-5" "02325" "TNXB_000122" "g.32036404C>T" "" "" "" "TNXB(NM_019105.6):c.5983G>A (p.(Val1995Met)), TNXB(NM_019105.8):c.5983G>A (p.V1995M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912469" "0" "30" "6" "32037475" "32037475" "subst" "0.000102144" "02326" "TNXB_000368" "g.32037475G>A" "" "" "" "TNXB(NM_019105.8):c.5442C>T (p.D1814=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912470" "0" "30" "6" "32047123" "32047123" "subst" "0" "02329" "TNXB_000369" "g.32047123G>A" "" "" "" "TNXB(NM_019105.8):c.4062C>T (p.D1354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912471" "0" "30" "6" "32053603" "32053603" "subst" "4.18722E-6" "02329" "TNXB_000370" "g.32053603G>T" "" "" "" "TNXB(NM_019105.8):c.3072C>A (p.T1024=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912472" "0" "30" "6" "32057149" "32057149" "subst" "0.000438549" "02326" "TNXB_000158" "g.32057149C>T" "" "" "" "TNXB(NM_001365276.2):c.2366G>A (p.(Gly789Glu)), TNXB(NM_019105.8):c.2366G>A (p.G789E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912473" "0" "50" "6" "32064671" "32064671" "subst" "0" "02325" "TNXB_000371" "g.32064671C>A" "" "" "" "TNXB(NM_019105.8):c.959G>T (p.R320L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912474" "0" "30" "6" "32065779" "32065779" "subst" "0.000105644" "02326" "TNXB_000372" "g.32065779C>G" "" "" "" "TNXB(NM_019105.8):c.197G>C (p.G66A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912475" "0" "30" "6" "32065863" "32065863" "subst" "0.00198203" "02326" "TNXB_000373" "g.32065863C>T" "" "" "" "TNXB(NM_019105.8):c.113G>A (p.R38Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922740" "0" "11" "6" "32025863" "32025863" "subst" "0.0911327" "04419" "TNXB_000094" "g.32025863C>T" "" "{PMID:Fransen et al., 2021:33737726}" "" "" "Variant alleles in patients/ Total # of patient alleles = \r\n71/1046" "Germline" "yes" "" "0" "" "" "g.32058086C>T" "" "VUS" "" "0000924471" "0" "30" "6" "32011296" "32011296" "subst" "0" "02329" "TNXB_000374" "g.32011296C>T" "" "" "" "TNXB(NM_019105.8):c.11562G>A (p.L3854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924472" "0" "30" "6" "32012246" "32012246" "subst" "0.00178194" "02329" "TNXB_000375" "g.32012246G>A" "" "" "" "TNXB(NM_019105.8):c.11169C>T (p.S3723=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924473" "0" "30" "6" "32014004" "32014004" "subst" "0.00185962" "02326" "TNXB_000376" "g.32014004G>A" "" "" "" "TNXB(NM_019105.8):c.10548C>T (p.Y3516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924474" "0" "30" "6" "32015640" "32015640" "subst" "1.65854E-5" "02326" "TNXB_000377" "g.32015640C>A" "" "" "" "TNXB(NM_019105.6):c.10189G>T (p.(Val3397Leu)), TNXB(NM_019105.8):c.10189G>T (p.V3397L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924475" "0" "30" "6" "32017233" "32017233" "subst" "0.00182665" "02329" "TNXB_000378" "g.32017233C>T" "" "" "" "TNXB(NM_019105.8):c.9565G>A (p.G3189S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924476" "0" "30" "6" "32017959" "32017959" "subst" "0.00038121" "02329" "TNXB_000334" "g.32017959G>C" "" "" "" "TNXB(NM_019105.8):c.9249C>G (p.G3083=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924477" "0" "30" "6" "32025860" "32025860" "subst" "0" "02329" "TNXB_000379" "g.32025860G>A" "" "" "" "TNXB(NM_019105.8):c.7800C>T (p.G2600=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924478" "0" "30" "6" "32025949" "32025949" "subst" "0.00244756" "02326" "TNXB_000380" "g.32025949G>C" "" "" "" "TNXB(NM_019105.8):c.7711C>G (p.Q2571E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924479" "0" "30" "6" "32025956" "32025956" "subst" "0.00240867" "02326" "TNXB_000381" "g.32025956A>G" "" "" "" "TNXB(NM_019105.8):c.7704T>C (p.V2568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924480" "0" "30" "6" "32029253" "32029253" "subst" "0.00219773" "02326" "TNXB_000382" "g.32029253A>G" "" "" "" "TNXB(NM_019105.8):c.7413T>C (p.P2471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924481" "0" "30" "6" "32030131" "32030131" "subst" "0.00119882" "02329" "TNXB_000383" "g.32030131G>T" "" "" "" "TNXB(NM_019105.8):c.6971C>A (p.T2324K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924482" "0" "30" "6" "32036363" "32036363" "subst" "0.00254704" "02326" "TNXB_000384" "g.32036363T>C" "" "" "" "TNXB(NM_019105.8):c.6024A>G (p.T2008=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924483" "0" "10" "6" "32063370" "32063370" "subst" "0.00296015" "02326" "TNXB_000385" "g.32063370G>C" "" "" "" "TNXB(NM_019105.8):c.2242+18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924484" "0" "30" "6" "32065081" "32065081" "subst" "1.63192E-5" "02326" "TNXB_000386" "g.32065081G>A" "" "" "" "TNXB(NM_019105.8):c.549C>T (p.A183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929170" "0" "30" "6" "32012246" "32012246" "subst" "0.00178194" "02326" "TNXB_000375" "g.32012246G>A" "" "" "" "TNXB(NM_019105.8):c.11169C>T (p.S3723=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929171" "0" "50" "6" "32012278" "32012278" "subst" "0" "02329" "TNXB_000387" "g.32012278G>A" "" "" "" "TNXB(NM_019105.8):c.11137C>T (p.R3713W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929172" "0" "10" "6" "32017143" "32017143" "subst" "0.00597038" "02329" "TNXB_000066" "g.32017143C>T" "" "" "" "TNXB(NM_019105.6):c.9655G>A (p.V3219M), TNXB(NM_019105.8):c.9655G>A (p.V3219M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929173" "0" "30" "6" "32017233" "32017233" "subst" "0.00182665" "02326" "TNXB_000378" "g.32017233C>T" "" "" "" "TNXB(NM_019105.8):c.9565G>A (p.G3189S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931486" "3" "90" "6" "32064261" "32065976" "del" "0" "04335" "TNXB_000393" "g.(32063985_32064261)_(32065976_?)del" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000931487" "3" "90" "6" "32011499" "32011618" "del" "0" "04335" "TNXB_000025" "g.32011499_32011618del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32043722_32043841del" "" "pathogenic (recessive)" "ACMG" "0000931488" "3" "90" "6" "32063979" "32063980" "del" "0" "04335" "TNXB_000392" "g.32063979_32063980del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32096202_32096203del" "" "pathogenic (recessive)" "ACMG" "0000931489" "11" "90" "6" "32015555" "32015555" "subst" "0" "04335" "TNXB_000388" "g.32015555G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32047778G>C" "" "pathogenic (recessive)" "ACMG" "0000931491" "21" "90" "6" "32030154" "32030154" "del" "0" "04335" "TNXB_000391" "g.32030154del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32062377del" "" "pathogenic (recessive)" "ACMG" "0000931493" "3" "90" "6" "32010262" "32010262" "subst" "2.03538E-5" "04335" "TNXB_000018" "g.32010262G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32042485G>C" "" "likely pathogenic (recessive)" "ACMG" "0000931495" "2" "90" "6" "32010262" "32010262" "subst" "2.03538E-5" "04335" "TNXB_000018" "g.32010262G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32042485G>C" "" "likely pathogenic (recessive)" "ACMG" "0000931496" "21" "90" "6" "32021365" "32021365" "subst" "0" "04335" "TNXB_000390" "g.32021365C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32053588C>T" "" "pathogenic (maternal)" "ACMG" "0000931498" "1" "90" "6" "32017938" "32017938" "dup" "0" "04335" "TNXB_000389" "g.32017938dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32050161dup" "" "pathogenic (recessive)" "ACMG" "0000931529" "1" "90" "6" "32011499" "32011618" "del" "0" "04335" "TNXB_000025" "g.32011499_32011618del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32043722_32043841del" "" "pathogenic (recessive)" "" "0000931530" "21" "90" "6" "32011499" "32011618" "del" "0" "04335" "TNXB_000025" "g.32011499_32011618del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32043722_32043841del" "" "pathogenic (recessive)" "" "0000931531" "11" "90" "6" "32011499" "32011618" "del" "0" "04335" "TNXB_000025" "g.32011499_32011618del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32043722_32043841del" "" "pathogenic (recessive)" "ACMG" "0000931532" "11" "90" "6" "32011499" "32011618" "del" "0" "04335" "TNXB_000025" "g.32011499_32011618del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000931533" "2" "90" "6" "32011499" "32011618" "del" "0" "04335" "TNXB_000025" "g.32011499_32011618del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000948689" "0" "90" "6" "32006975" "32006975" "subst" "3.70552E-5" "02327" "C4B_000034" "g.32006975C>T" "" "" "" "CYP21A2(NM_000500.9):c.397C>T (p.R133C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948690" "0" "70" "6" "32006975" "32006975" "subst" "3.70552E-5" "02325" "C4B_000034" "g.32006975C>T" "" "" "" "CYP21A2(NM_000500.9):c.397C>T (p.R133C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948691" "0" "50" "6" "32008469" "32008469" "subst" "8.54401E-6" "02325" "TNXB_000394" "g.32008469G>C" "" "" "" "CYP21A2(NM_000500.9):c.1143G>C (p.E381D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948692" "0" "30" "6" "32017767" "32017767" "subst" "0.000689029" "02326" "TNXB_000216" "g.32017767T>C" "" "" "" "TNXB(NM_019105.8):c.9433+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948693" "0" "30" "6" "32017776" "32017776" "subst" "0.00308227" "02326" "TNXB_000073" "g.32017776C>T" "" "" "" "TNXB(NM_019105.8):c.9432G>A (p.T3144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948694" "0" "30" "6" "32017881" "32017881" "subst" "0.000509822" "02326" "TNXB_000395" "g.32017881G>A" "" "" "" "TNXB(NM_019105.8):c.9327C>T (p.D3109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948695" "0" "30" "6" "32021469" "32021469" "subst" "5.39142E-5" "02326" "TNXB_000396" "g.32021469C>T" "" "" "" "TNXB(NM_019105.8):c.8481G>A (p.E2827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948696" "0" "30" "6" "32030131" "32030131" "subst" "0.00119882" "02326" "TNXB_000383" "g.32030131G>T" "" "" "" "TNXB(NM_019105.8):c.6971C>A (p.T2324K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948697" "0" "30" "6" "32041431" "32041431" "subst" "1.6682E-5" "02329" "TNXB_000235" "g.32041431G>A" "" "" "" "TNXB(NM_019105.6):c.4674C>T (p.I1558=), TNXB(NM_019105.8):c.4674C>T (p.I1558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948698" "0" "50" "6" "32053848" "32053848" "subst" "0" "02326" "TNXB_000397" "g.32053848A>G" "" "" "" "TNXB(NM_019105.8):c.2827T>C (p.S943P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964004" "0" "50" "6" "32006949" "32006949" "subst" "0.000593125" "02327" "C4B_000035" "g.32006949C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964005" "0" "90" "6" "32007887" "32007887" "subst" "0.00489488" "02329" "CYP21A2_000051" "g.32007887G>T" "" "" "" "CYP21A2(NM_000500.7):c.844G>T (p.(Val282Leu)), CYP21A2(NM_000500.9):c.844G>T (p.V282L), CYP21A2(NM_001368143.2):c.439G>T (p.V147L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000964006" "0" "70" "6" "32008765" "32008765" "subst" "0" "02327" "TNXB_000398" "g.32008765C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000964007" "0" "50" "6" "32009589" "32009589" "subst" "0" "02329" "TNXB_000196" "g.32009589C>T" "" "" "" "TNXB(NM_019105.6):c.12586G>A (p.(Ala4196Thr)), TNXB(NM_019105.8):c.12586G>A (p.A4196T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964008" "0" "30" "6" "32009838" "32009838" "subst" "2.71983E-5" "02329" "TNXB_000399" "g.32009838C>T" "" "" "" "TNXB(NM_019105.8):c.12414G>A (p.S4138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964009" "0" "30" "6" "32010286" "32010286" "subst" "0.00168426" "02329" "TNXB_000346" "g.32010286G>C" "" "" "" "TNXB(NM_019105.8):c.12150C>G (p.R4050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964010" "0" "50" "6" "32012425" "32012425" "subst" "0" "02329" "TNXB_000400" "g.32012425C>T" "" "" "" "TNXB(NM_019105.8):c.10990G>A (p.V3664M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964011" "0" "30" "6" "32016239" "32016239" "subst" "0.000963554" "02329" "TNXB_000062" "g.32016239C>T" "" "" "" "TNXB(NM_019105.6):c.9940G>A (p.A3314T), TNXB(NM_019105.8):c.9940G>A (p.A3314T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964012" "0" "50" "6" "32018002" "32018002" "subst" "4.10533E-5" "02329" "TNXB_000401" "g.32018002G>A" "" "" "" "TNXB(NM_019105.8):c.9206C>T (p.A3069V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964013" "0" "30" "6" "32021489" "32021489" "subst" "0.000466041" "02326" "TNXB_000402" "g.32021489C>T" "" "" "" "TNXB(NM_019105.8):c.8468-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964015" "0" "30" "6" "32023884" "32023884" "subst" "1.66113E-5" "02329" "TNXB_000403" "g.32023884C>T" "" "" "" "TNXB(NM_019105.8):c.8211G>A (p.P2737=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964016" "0" "30" "6" "32029180" "32029180" "subst" "0.000189916" "02326" "TNXB_000404" "g.32029180C>T" "" "" "" "TNXB(NM_019105.8):c.7486G>A (p.V2496M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964017" "0" "50" "6" "32035624" "32035624" "subst" "0.000147231" "02327" "TNXB_000405" "g.32035624C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964018" "0" "50" "6" "32036422" "32036422" "subst" "8.54284E-5" "02327" "TNXB_000406" "g.32036422G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000971533" "0" "70" "6" "32057054" "32057054" "subst" "2.04127E-5" "00006" "TNXB_000033" "g.32057054G>A" "0.002 controls" "" "" "" "" "Unknown" "" "" "0" "" "" "g.32089277G>A" "373424" "pathogenic" "ACMG" "0000977169" "0" "90" "6" "32006858" "32006858" "subst" "0.00226392" "01804" "CYP21A2_000019" "g.32006858C>G" "" "" "" "CYP21A2(NM_000500.9):c.293-13C>G, CYP21A2(NM_001368143.2):c.-126C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000977170" "0" "90" "6" "32006858" "32006858" "subst" "0.00226392" "02329" "CYP21A2_000019" "g.32006858C>G" "" "" "" "CYP21A2(NM_000500.9):c.293-13C>G, CYP21A2(NM_001368143.2):c.-126C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000977171" "0" "90" "6" "32007203" "32007203" "subst" "0.000462005" "01804" "CYP21A2_000025" "g.32007203T>A" "" "" "" "CYP21A2(NM_000500.7):c.518T>A (p.(Ile173Asn)), CYP21A2(NM_001128590.3):c.428T>A (p.I143N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000977172" "0" "90" "6" "32008648" "32008648" "subst" "1.44101E-5" "02327" "TNXB_000407" "g.32008648C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000977173" "0" "50" "6" "32009663" "32009663" "subst" "8.16875E-5" "01804" "TNXB_000035" "g.32009663C>T" "" "" "" "TNXB(NM_001365276.2):c.12518G>A (p.(Arg4173Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977174" "0" "30" "6" "32009832" "32009832" "subst" "0" "02329" "TNXB_000408" "g.32009832C>T" "" "" "" "TNXB(NM_019105.8):c.12420G>A (p.A4140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977175" "0" "50" "6" "32010604" "32010604" "subst" "7.87005E-5" "01804" "TNXB_000409" "g.32010604A>T" "" "" "" "TNXB(NM_001365276.2):c.11930T>A (p.(Ile3977Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977176" "0" "30" "6" "32011239" "32011239" "subst" "0" "02329" "TNXB_000410" "g.32011239A>G" "" "" "" "TNXB(NM_019105.8):c.11619T>C (p.Y3873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977177" "0" "50" "6" "32012325" "32012325" "subst" "0.000724098" "02329" "TNXB_000411" "g.32012325G>A" "" "" "" "TNXB(NM_019105.8):c.11090C>T (p.P3697L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977178" "0" "50" "6" "32016406" "32016406" "subst" "8.26122E-5" "01804" "TNXB_000324" "g.32016406G>A" "" "" "" "TNXB(NM_001365276.2):c.9779C>T (p.(Pro3260Leu)), TNXB(NM_019105.6):c.9773C>T (p.P3258L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977179" "0" "50" "6" "32017079" "32017079" "subst" "5.77139E-5" "02329" "TNXB_000412" "g.32017079C>T" "" "" "" "TNXB(NM_019105.8):c.9719G>A (p.R3240H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977180" "0" "30" "6" "32020522" "32020522" "subst" "0.00399408" "01804" "TNXB_000354" "g.32020522A>G" "" "" "" "TNXB(NM_001365276.2):c.9040T>C (p.(Cys3014Arg)), TNXB(NM_019105.8):c.9034T>C (p.C3012R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977181" "0" "10" "6" "32024552" "32024552" "subst" "0.000556934" "01804" "TNXB_000087" "g.32024552C>T" "" "" "" "TNXB(NM_001365276.2):c.7954G>A (p.(Glu2652Lys)), TNXB(NM_019105.8):c.7954G>A (p.E2652K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977182" "0" "10" "6" "32029249" "32029249" "subst" "0.0019633" "02329" "TNXB_000366" "g.32029249G>A" "" "" "" "TNXB(NM_019105.8):c.7417C>T (p.R2473C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977183" "0" "10" "6" "32029253" "32029253" "subst" "0.00219773" "02329" "TNXB_000382" "g.32029253A>G" "" "" "" "TNXB(NM_019105.8):c.7413T>C (p.P2471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977184" "0" "50" "6" "32037938" "32037938" "subst" "5.79883E-5" "02329" "TNXB_000413" "g.32037938C>A" "" "" "" "TNXB(NM_001365276.2):c.5244G>T (p.(Lys1748Asn)), TNXB(NM_019105.8):c.5244G>T (p.K1748N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977185" "0" "50" "6" "32056708" "32056708" "subst" "0.000720996" "01804" "TNXB_000037" "g.32056708C>T" "" "" "" "TNXB(NM_001365276.2):c.2633G>A (p.(Gly878Asp)), TNXB(NM_019105.6):c.2633G>A (p.G878D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995663" "0" "50" "6" "32007370" "32007370" "subst" "0.000474859" "01804" "C4B_000031" "g.32007370A>T" "" "" "" "CYP21A2(NM_000500.7):c.597A>T (p.(Leu199Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995664" "0" "30" "6" "32010523" "32010523" "subst" "0.0741184" "02329" "TNXB_000414" "g.32010523A>G" "" "" "" "TNXB(NM_019105.8):c.12005T>C (p.M4002T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995665" "0" "50" "6" "32011316" "32011316" "subst" "0.0817484" "02329" "TNXB_000415" "g.32011316G>T" "" "" "" "TNXB(NM_019105.8):c.11542C>A (p.Q3848K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995666" "0" "30" "6" "32011317" "32011317" "subst" "0.0819325" "02329" "TNXB_000416" "g.32011317T>C" "" "" "" "TNXB(NM_019105.8):c.11541A>G (p.T3847=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995667" "0" "30" "6" "32011639" "32011639" "subst" "0.00518387" "02329" "TNXB_000307" "g.32011639T>C" "" "" "" "TNXB(NM_019105.8):c.11411A>G (p.Q3804R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995668" "0" "50" "6" "32011670" "32011670" "subst" "0" "01804" "TNXB_000417" "g.32011670C>T" "" "" "" "TNXB(NM_032470.3):c.674-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995669" "0" "30" "6" "32011825" "32011825" "subst" "0.000282554" "01804" "TNXB_000332" "g.32011825C>A" "" "" "" "TNXB(NM_019105.6):c.11339G>T (p.R3780L), TNXB(NM_032470.3):c.632G>T (p.(Arg211Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995670" "0" "30" "6" "32012318" "32012318" "subst" "0" "02329" "TNXB_000418" "g.32012318C>T" "" "" "" "TNXB(NM_019105.8):c.11097G>A (p.P3699=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995671" "0" "50" "6" "32012334" "32012334" "subst" "0" "02329" "TNXB_000419" "g.32012334G>A" "" "" "" "TNXB(NM_019105.8):c.11081C>T (p.T3694I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995672" "0" "30" "6" "32012817" "32012817" "subst" "0.0523076" "02329" "TNXB_000420" "g.32012817C>T" "" "" "" "TNXB(NM_019105.8):c.10887G>A (p.K3629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995673" "0" "30" "6" "32012928" "32012928" "subst" "0" "02329" "TNXB_000421" "g.32012928G>A" "" "" "" "TNXB(NM_019105.8):c.10776C>T (p.N3592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995674" "0" "30" "6" "32012987" "32012987" "subst" "0.112826" "02329" "TNXB_000422" "g.32012987A>G" "" "" "" "TNXB(NM_019105.8):c.10717T>C (p.S3573P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995675" "0" "50" "6" "32013058" "32013058" "subst" "1.29894E-5" "01804" "TNXB_000423" "g.32013058G>A" "" "" "" "TNXB(NM_019105.6):c.10646C>T (p.(Pro3549Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995676" "0" "30" "6" "32014101" "32014101" "subst" "0.000128607" "01804" "TNXB_000353" "g.32014101G>A" "" "" "" "TNXB(NM_019105.6):c.10451C>T (p.(Thr3484Met)), TNXB(NM_019105.8):c.10451C>T (p.T3484M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995677" "0" "30" "6" "32015640" "32015640" "subst" "1.65854E-5" "01804" "TNXB_000377" "g.32015640C>A" "" "" "" "TNXB(NM_019105.6):c.10189G>T (p.(Val3397Leu)), TNXB(NM_019105.8):c.10189G>T (p.V3397L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995678" "0" "30" "6" "32018115" "32018115" "subst" "2.49648E-5" "02329" "TNXB_000424" "g.32018115G>A" "" "" "" "TNXB(NM_019105.8):c.9110-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995679" "0" "30" "6" "32020477" "32020477" "subst" "2.89072E-5" "01804" "TNXB_000425" "g.32020477C>T" "" "" "" "TNXB(NM_019105.6):c.9079G>A (p.(Val3027Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995680" "0" "50" "6" "32020722" "32020722" "subst" "0" "02329" "TNXB_000426" "g.32020722G>A" "" "" "" "TNXB(NM_019105.8):c.8834C>T (p.P2945L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995681" "0" "30" "6" "32021296" "32021296" "subst" "9.0309E-5" "01804" "TNXB_000427" "g.32021296A>G" "" "" "" "TNXB(NM_019105.6):c.8654T>C (p.(Val2885Ala)), TNXB(NM_019105.8):c.8654T>C (p.V2885A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995682" "0" "50" "6" "32021296" "32021296" "subst" "9.0309E-5" "02329" "TNXB_000427" "g.32021296A>G" "" "" "" "TNXB(NM_019105.6):c.8654T>C (p.(Val2885Ala)), TNXB(NM_019105.8):c.8654T>C (p.V2885A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995683" "0" "30" "6" "32023810" "32023810" "subst" "0.000321549" "01804" "TNXB_000428" "g.32023810T>C" "" "" "" "TNXB(NM_019105.6):c.8285A>G (p.(His2762Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995684" "0" "50" "6" "32024678" "32024678" "subst" "0" "02329" "TNXB_000429" "g.32024678C>T" "" "" "" "TNXB(NM_019105.8):c.7828G>A (p.D2610N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995685" "0" "30" "6" "32025966" "32025966" "subst" "0.000155418" "01804" "TNXB_000097" "g.32025966G>A" "" "" "" "TNXB(NM_019105.6):c.7694C>T (p.(Ala2565Val)), TNXB(NM_019105.8):c.7694C>T (p.A2565V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995686" "0" "30" "6" "32026030" "32026030" "subst" "0.000164868" "01804" "TNXB_000430" "g.32026030C>T" "" "" "" "TNXB(NM_019105.6):c.7630G>A (p.(Val2544Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995687" "0" "30" "6" "32029288" "32029288" "subst" "2.85372E-5" "01804" "TNXB_000103" "g.32029288C>T" "" "" "" "TNXB(NM_019105.6):c.7378G>A (p.(Glu2460Lys)), TNXB(NM_019105.8):c.7378G>A (p.E2460K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995688" "0" "30" "6" "32032672" "32032672" "subst" "0" "01804" "TNXB_000431" "g.32032672T>A" "" "" "" "TNXB(NM_019105.6):c.6767A>T (p.(His2256Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995689" "0" "30" "6" "32035615" "32035615" "subst" "0.000665545" "02329" "TNXB_000313" "g.32035615C>T" "" "" "" "TNXB(NM_019105.8):c.6367G>A (p.D2123N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995690" "0" "30" "6" "32036896" "32036896" "subst" "0" "01804" "TNXB_000432" "g.32036896C>T" "" "" "" "TNXB(NM_019105.6):c.5605G>A (p.(Glu1869Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995691" "0" "30" "6" "32037475" "32037475" "subst" "0.000102144" "02329" "TNXB_000368" "g.32037475G>A" "" "" "" "TNXB(NM_019105.8):c.5442C>T (p.D1814=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995692" "0" "50" "6" "32038108" "32038108" "subst" "0" "01804" "TNXB_000433" "g.32038108G>A" "" "" "" "TNXB(NM_019105.6):c.5074C>T (p.(Leu1692Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995693" "0" "50" "6" "32046888" "32046888" "subst" "3.26595E-5" "01804" "TNXB_000434" "g.32046888C>T" "" "" "" "TNXB(NM_019105.6):c.4297G>A (p.(Gly1433Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995694" "0" "50" "6" "32052289" "32052289" "subst" "4.56579E-5" "02329" "TNXB_000435" "g.32052289C>T" "" "" "" "TNXB(NM_019105.8):c.3346G>A (p.V1116I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995695" "0" "30" "6" "32052290" "32052290" "subst" "0.000307141" "02329" "TNXB_000436" "g.32052290G>A" "" "" "" "TNXB(NM_019105.8):c.3345C>T (p.A1115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995696" "0" "30" "6" "32052313" "32052313" "subst" "0.000800943" "01804" "TNXB_000014" "g.32052313C>T" "" "" "" "TNXB(NM_019105.6):c.3322G>A (p.V1108M, p.(Val1108Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995697" "0" "90" "6" "32052345" "32052346" "del" "0" "01804" "TNXB_000001" "g.32052345_32052346del" "" "" "" "TNXB(NM_019105.6):c.3290_3291delAA (p.(Lys1097fs)), TNXB(NM_019105.8):c.3290_3291delAA (p.K1097Rfs*48)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000995698" "0" "50" "6" "32052358" "32052358" "subst" "0.000261711" "01804" "TNXB_000338" "g.32052358C>T" "" "" "" "TNXB(NM_019105.6):c.3277G>A (p.(Val1093Met)), TNXB(NM_019105.8):c.3277G>A (p.V1093M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995699" "0" "50" "6" "32052379" "32052379" "subst" "8.34397E-6" "01804" "TNXB_000437" "g.32052379C>T" "" "" "" "TNXB(NM_019105.6):c.3256G>A (p.(Glu1086Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995700" "0" "50" "6" "32053637" "32053637" "subst" "0.000120699" "01804" "TNXB_000438" "g.32053637C>T" "" "" "" "TNXB(NM_019105.6):c.3038G>A (p.(Arg1013His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995701" "0" "30" "6" "32053694" "32053694" "subst" "0.000145368" "01804" "TNXB_000153" "g.32053694C>T" "" "" "" "TNXB(NM_019105.6):c.2981G>A (p.(Arg994His)), TNXB(NM_019105.8):c.2981G>A (p.R994H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995702" "0" "50" "6" "32056709" "32056709" "subst" "2.184E-5" "01804" "TNXB_000439" "g.32056709C>T" "" "" "" "TNXB(NM_019105.6):c.2632G>A (p.(Gly878Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995703" "0" "30" "6" "32063879" "32063879" "subst" "0" "01804" "TNXB_000163" "g.32063879T>A" "" "" "" "TNXB(NM_019105.6):c.1751A>T (p.D584V, p.(Asp584Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995704" "0" "50" "6" "32064245" "32064245" "subst" "4.52653E-6" "01804" "TNXB_000440" "g.32064245C>T" "" "" "" "TNXB(NM_019105.6):c.1385G>A (p.(Gly462Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995705" "0" "50" "6" "32065765" "32065765" "subst" "0.00027232" "01804" "TNXB_000176" "g.32065765C>A" "" "" "" "TNXB(NM_019105.6):c.211G>T (p.V71L, p.(Val71Leu)), TNXB(NM_019105.8):c.211G>T (p.V71L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014202" "0" "50" "6" "32008241" "32008241" "subst" "0" "02327" "TNXB_000441" "g.32008241C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014203" "0" "50" "6" "32008352" "32008352" "subst" "3.31389E-5" "02327" "TNXB_000442" "g.32008352G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014204" "0" "30" "6" "32014190" "32014190" "subst" "0.000852039" "02329" "TNXB_000323" "g.32014190G>A" "" "" "" "TNXB(NM_019105.8):c.10362C>T (p.T3454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014205" "0" "30" "6" "32015689" "32015689" "subst" "3.71517E-5" "02329" "TNXB_000443" "g.32015689G>A" "" "" "" "TNXB(NM_019105.8):c.10140C>T (p.F3380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014206" "0" "50" "6" "32017349" "32017349" "subst" "1.24982E-5" "02329" "TNXB_000444" "g.32017349C>G" "" "" "" "TNXB(NM_019105.8):c.9449G>C (p.S3150T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014207" "0" "50" "6" "32017770" "32017770" "subst" "8.24763E-6" "02325" "TNXB_000445" "g.32017770C>T" "" "" "" "TNXB(NM_019105.8):c.9433+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014208" "0" "30" "6" "32017881" "32017881" "subst" "0.000509822" "02329" "TNXB_000395" "g.32017881G>A" "" "" "" "TNXB(NM_019105.8):c.9327C>T (p.D3109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014209" "0" "30" "6" "32023954" "32023954" "subst" "4.20062E-5" "02329" "TNXB_000221" "g.32023954G>A" "" "" "" "TNXB(NM_019105.6):c.8144-3C>T, TNXB(NM_019105.8):c.8144-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014210" "0" "50" "6" "32029207" "32029207" "subst" "5.35866E-5" "02329" "TNXB_000446" "g.32029207G>A" "" "" "" "TNXB(NM_019105.8):c.7459C>T (p.R2487C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014211" "0" "50" "6" "32036218" "32036218" "subst" "2.4423E-5" "02329" "TNXB_000447" "g.32036218C>T" "" "" "" "TNXB(NM_019105.8):c.6169G>A (p.G2057S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014212" "0" "10" "6" "32041661" "32041661" "subst" "0.00175616" "02329" "TNXB_000359" "g.32041661C>T" "" "" "" "TNXB(NM_019105.8):c.4444G>A (p.V1482M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025204" "0" "50" "6" "32006357" "32006357" "subst" "0" "02325" "C4B_000037" "g.32006357C>G" "" "" "" "CYP21A2(NM_000500.9):c.158C>G (p.T53S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025205" "0" "30" "6" "32009965" "32009965" "subst" "0" "02329" "TNXB_000345" "g.32009965C>T" "" "" "" "TNXB(NM_019105.8):c.12302-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025206" "0" "50" "6" "32010375" "32010375" "subst" "0" "02329" "TNXB_000448" "g.32010375G>A" "" "" "" "TNXB(NM_019105.8):c.12061C>T (p.R4021W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025207" "0" "30" "6" "32010465" "32010465" "subst" "0.010187" "02329" "TNXB_000449" "g.32010465C>T" "" "" "" "TNXB(NM_019105.8):c.12052+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025208" "0" "30" "6" "32010722" "32010722" "subst" "0" "02329" "TNXB_000450" "g.32010722G>C" "" "" "" "TNXB(NM_019105.8):c.11919+6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025209" "0" "50" "6" "32011825" "32011825" "subst" "6.80222E-5" "02329" "TNXB_000451" "g.32011825C>T" "" "" "" "TNXB(NM_019105.8):c.11339G>A (p.R3780Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025210" "0" "30" "6" "32011926" "32011926" "subst" "0.0185601" "02329" "TNXB_000452" "g.32011926C>T" "" "" "" "TNXB(NM_019105.8):c.11258-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025211" "0" "50" "6" "32012166" "32012166" "subst" "0" "02329" "TNXB_000453" "g.32012166A>T" "" "" "" "TNXB(NM_019105.8):c.11249T>A (p.L3750H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025212" "0" "30" "6" "32012254" "32012254" "subst" "0" "02326" "TNXB_000044" "g.32012254G>A" "" "" "" "TNXB(NM_019105.8):c.11161C>T (p.L3721=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025213" "0" "30" "6" "32017163" "32017163" "subst" "0.0200475" "02329" "TNXB_000454" "g.32017163C>A" "" "" "" "TNXB(NM_019105.8):c.9635G>T (p.G3212V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025214" "0" "30" "6" "32018046" "32018046" "subst" "0.000680379" "02329" "TNXB_000335" "g.32018046C>T" "" "" "" "TNXB(NM_019105.8):c.9162G>A (p.E3054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025215" "0" "30" "6" "32029430" "32029430" "subst" "1.65704E-5" "02329" "TNXB_000455" "g.32029430C>T" "" "" "" "TNXB(NM_019105.8):c.7236G>A (p.P2412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025216" "0" "30" "6" "32030058" "32030058" "subst" "0" "02329" "TNXB_000456" "g.32030058C>G" "" "" "" "TNXB(NM_019105.8):c.7044G>C (p.R2348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025217" "0" "30" "6" "32035430" "32035430" "subst" "0.00331812" "02329" "TNXB_000326" "g.32035430A>T" "" "" "" "TNXB(NM_019105.6):c.6544+8T>A, TNXB(NM_019105.8):c.6544+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025218" "0" "30" "6" "32052182" "32052182" "subst" "0.00368383" "02329" "TNXB_000315" "g.32052182T>C" "" "" "" "TNXB(NM_019105.6):c.3445+8A>G, TNXB(NM_019105.8):c.3445+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025219" "0" "30" "6" "32057130" "32057130" "subst" "0.000689163" "02329" "TNXB_000339" "g.32057130T>C" "" "" "" "TNXB(NM_019105.8):c.2385A>G (p.T795=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035689" "0" "70" "6" "32008181" "32008181" "subst" "0" "02327" "C4B_000038" "g.32008181A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001035690" "0" "30" "6" "32008904" "32008904" "subst" "0.000344502" "01804" "CYP21A2_000077" "g.32008904G>A" "" "" "" "CYP21A2(NM_000500.9):c.1481G>A (p.(Ser494Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035691" "0" "50" "6" "32010258" "32010258" "subst" "0" "01804" "TNXB_000457" "g.32010258T>C" "" "" "" "TNXB(NM_001365276.2):c.12184A>G (p.(Met4062Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035692" "0" "50" "6" "32011527" "32011527" "subst" "3.66883E-5" "02329" "TNXB_000458" "g.32011527C>T" "" "" "" "TNXB(NM_019105.8):c.11523G>A (p.T3841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035693" "0" "30" "6" "32029923" "32029923" "subst" "0.00049018" "02329" "TNXB_000459" "g.32029923C>T" "" "" "" "TNXB(NM_019105.8):c.7168+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035694" "0" "30" "6" "32030004" "32030004" "subst" "4.09299E-6" "01804" "TNXB_000460" "g.32030004C>T" "" "" "" "TNXB(NM_001365276.2):c.7098G>A (p.(Lys2366=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035695" "0" "30" "6" "32035430" "32035430" "subst" "0.00331812" "02326" "TNXB_000326" "g.32035430A>T" "" "" "" "TNXB(NM_019105.6):c.6544+8T>A, TNXB(NM_019105.8):c.6544+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035696" "0" "50" "6" "32037938" "32037938" "subst" "5.79883E-5" "01804" "TNXB_000413" "g.32037938C>A" "" "" "" "TNXB(NM_001365276.2):c.5244G>T (p.(Lys1748Asn)), TNXB(NM_019105.8):c.5244G>T (p.K1748N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035697" "0" "30" "6" "32052444" "32052444" "subst" "0.0132986" "01804" "TNXB_000152" "g.32052444C>T" "" "" "" "TNXB(NM_001365276.2):c.3191G>A (p.(Arg1064His)), TNXB(NM_019105.8):c.3191G>A (p.R1064H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046062" "0" "90" "6" "32006970" "32006970" "subst" "0" "02327" "C4B_000039" "g.32006970G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001052306" "0" "50" "6" "32008730" "32008730" "subst" "3.08971E-5" "01804" "TNXB_000461" "g.32008730G>A" "" "" "" "CYP21A2(NM_000500.9):c.1307G>A (p.(Arg436His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052307" "0" "50" "6" "32010361" "32010361" "subst" "0" "01804" "TNXB_000462" "g.32010361G>A" "" "" "" "TNXB(NM_001365276.2):c.12081C>T (p.(Pro4027=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052308" "0" "50" "6" "32017295" "32017295" "subst" "4.14309E-6" "01804" "TNXB_000463" "g.32017295C>G" "" "" "" "TNXB(NM_001365276.2):c.9509G>C (p.(Gly3170Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052309" "0" "90" "6" "32056751" "32056751" "subst" "0" "01804" "TNXB_000030" "g.32056751G>A" "" "" "" "TNXB(NM_001365276.2):c.2590C>T (p.(Gln864*)), TNXB(NM_019105.8):c.2590C>T (p.Q864*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 TNXB ## Count = 726 "{{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}}" "{{VariantOnTranscript/Variant/Type}}" "{{VariantOnTranscript/Consequence/Predicted}}" "0000248301" "00021614" "10" "9693" "0" "9693" "0" "c.9693T>C" "r.(?)" "p.(His3231=)" "" "" "" "0000250036" "00021614" "10" "9693" "0" "9693" "0" "c.9693T>C" "r.(?)" "p.(His3231=)" "" "" "" "0000250100" "00021614" "30" "11406" "0" "11406" "0" "c.11406T>C" "r.(?)" "p.(Asp3802=)" "" "" "" "0000250101" "00021614" "30" "11082" "0" "11082" "0" "c.11082T>A" "r.(?)" "p.(Thr3694=)" "" "" "" "0000250102" "00021614" "10" "7440" "0" "7440" "0" "c.7440T>C" "r.(?)" "p.(Tyr2480=)" "" "" "" "0000250136" "00021614" "10" "6683" "0" "6683" "0" "c.6683T>A" "r.(?)" "p.(Phe2228Tyr)" "" "" "" "0000250158" "00021614" "10" "8588" "0" "8588" "0" "c.8588T>C" "r.(?)" "p.(Met2863Thr)" "" "" "" "0000250201" "00021614" "10" "12628" "-74" "12628" "-74" "c.12628-74T>C" "r.(=)" "p.(=)" "" "" "" "0000250202" "00021614" "10" "12627" "92" "12627" "92" "c.12627+92T>C" "r.(=)" "p.(=)" "" "" "" "0000250203" "00021614" "10" "12204" "43" "12204" "43" "c.12204+43T>G" "r.(=)" "p.(=)" "" "" "" "0000250204" "00021614" "10" "11525" "-25" "11525" "-25" "c.11525-25T>C" "r.(=)" "p.(=)" "" "" "" "0000250205" "00021614" "10" "11381" "-9" "11381" "-9" "c.11381-9T>C" "r.(=)" "p.(=)" "" "" "" "0000250206" "00021614" "10" "11381" "-45" "11381" "-45" "c.11381-45T>C" "r.(=)" "p.(=)" "" "" "" "0000250207" "00021614" "10" "11258" "-55" "11258" "-55" "c.11258-55T>C" "r.(=)" "p.(=)" "" "" "" "0000250208" "00021614" "10" "10040" "-7" "10040" "-7" "c.10040-7T>C" "r.(=)" "p.(=)" "" "" "" "0000250288" "00021614" "30" "4614" "0" "4614" "0" "c.4614T>C" "r.(?)" "p.(Tyr1538=)" "" "" "" "0000250350" "00021614" "30" "5780" "0" "5780" "0" "c.5780T>C" "r.(?)" "p.(Ile1927Thr)" "" "" "" "0000250354" "00021614" "30" "8132" "0" "8132" "0" "c.8132T>C" "r.(?)" "p.(Ile2711Thr)" "" "" "" "0000250435" "00021614" "30" "12627" "9" "12627" "9" "c.12627+9T>G" "r.(=)" "p.(=)" "" "" "" "0000250436" "00021614" "30" "11258" "-14" "11258" "-14" "c.11258-14T>C" "r.(=)" "p.(=)" "" "" "" "0000267242" "00021614" "30" "12931" "0" "12931" "0" "c.*202C>T" "r.(=)" "p.(=)" "" "" "" "0000267243" "00021614" "10" "15541" "0" "15541" "0" "c.*2812G>A" "r.(=)" "p.(=)" "" "" "" "0000267244" "00021614" "10" "15521" "0" "15521" "0" "c.*2792G>T" "r.(=)" "p.(=)" "" "" "" "0000267246" "00021614" "10" "14997" "0" "14997" "0" "c.*2268G>T" "r.(=)" "p.(=)" "" "" "" "0000267247" "00021614" "30" "14006" "0" "14006" "0" "c.*1277C>G" "r.(=)" "p.(=)" "" "" "" "0000311970" "00021614" "30" "2366" "0" "2366" "0" "c.2366G>A" "r.(?)" "p.(Gly789Glu)" "" "" "" "0000311971" "00021614" "50" "5276" "0" "5276" "0" "c.5276C>G" "r.(?)" "p.(Thr1759Arg)" "" "" "" "0000311972" "00021614" "10" "7553" "0" "7553" "0" "c.7553G>A" "r.(?)" "p.(Gly2518Glu)" "" "" "" "0000313337" "00021614" "10" "12892" "0" "12892" "0" "c.*163G>A" "r.(=)" "p.(=)" "" "" "" "0000313338" "00021614" "30" "10040" "-4" "10040" "-4" "c.10040-4C>T" "r.spl?" "p.?" "" "" "" "0000313339" "00021614" "30" "10601" "-19" "10601" "-19" "c.10601-19C>A" "r.(=)" "p.(=)" "" "" "" "0000313340" "00021614" "30" "10667" "0" "10667" "0" "c.10667G>A" "r.(?)" "p.(Arg3556His)" "" "" "" "0000313341" "00021614" "30" "10671" "0" "10671" "0" "c.10671A>G" "r.(?)" "p.(Leu3557=)" "" "" "" "0000313342" "00021614" "30" "10707" "0" "10707" "0" "c.10707C>T" "r.(?)" "p.(Ser3569=)" "" "" "" "0000313343" "00021614" "30" "10719" "0" "10719" "0" "c.10719G>A" "r.(?)" "p.(Ser3573=)" "" "" "" "0000313344" "00021614" "30" "107" "0" "107" "0" "c.107C>A" "r.(?)" "p.(Ala36Asp)" "" "" "" "0000313345" "00021614" "30" "1083" "0" "1083" "0" "c.1083C>G" "r.(?)" "p.(Pro361=)" "" "" "" "0000313346" "00021614" "30" "10850" "0" "10850" "0" "c.10850C>G" "r.(?)" "p.(Pro3617Arg)" "" "" "" "0000313347" "00021614" "10" "10921" "28" "10921" "28" "c.10921+28C>T" "r.(=)" "p.(=)" "" "" "" "0000313348" "00021614" "10" "10922" "-16" "10922" "-16" "c.10922-16C>T" "r.(=)" "p.(=)" "" "" "" "0000313349" "00021614" "10" "10922" "-82" "10922" "-82" "c.10922-82G>C" "r.(=)" "p.(=)" "" "" "" "0000313350" "00021614" "10" "10922" "-94" "10922" "-94" "c.10922-94G>A" "r.(=)" "p.(=)" "" "" "" "0000313351" "00021614" "30" "1092" "0" "1092" "0" "c.1092A>T" "r.(?)" "p.(Thr364=)" "" "" "" "0000313352" "00021614" "50" "11056" "0" "11056" "0" "c.11056C>G" "r.(?)" "p.(Arg3686Gly)" "" "" "" "0000313353" "00021614" "30" "11112" "0" "11112" "0" "c.11112G>A" "r.(?)" "p.(Gln3704=)" "" "" "" "0000313354" "00021614" "30" "11136" "0" "11136" "0" "c.11136G>A" "r.(?)" "p.(Thr3712=)" "" "" "" "0000313355" "00021614" "50" "11155" "0" "11155" "0" "c.11155C>T" "r.(?)" "p.(Arg3719Trp)" "" "" "" "0000313356" "00021614" "30" "11161" "0" "11161" "0" "c.11161C>T" "r.(?)" "p.(Leu3721=)" "" "" "" "0000313357" "00021614" "10" "11258" "-48" "11258" "-48" "c.11258-48A>G" "r.(=)" "p.(=)" "" "" "" "0000313358" "00021614" "90" "112" "0" "112" "0" "c.112del" "r.(?)" "p.(Arg38GlyfsTer66)" "" "" "" "0000313359" "00021614" "90" "11435" "0" "11524" "30" "c.11435_11524+30del" "r.spl?" "p.?" "" "" "" "0000313360" "00021614" "50" "11525" "-14" "11525" "-3" "c.11525-14_11525-3del" "r.spl?" "p.?" "" "" "" "0000313361" "00021614" "10" "11525" "-88" "11525" "-88" "c.11525-88G>A" "r.(=)" "p.(=)" "" "" "" "0000313362" "00021614" "50" "11533" "0" "11533" "0" "c.11533G>A" "r.(?)" "p.(Gly3845Ser)" "" "" "" "0000313363" "00021614" "30" "11565" "0" "11565" "0" "c.11565C>T" "r.(?)" "p.(Thr3855=)" "" "" "" "0000313364" "00021614" "30" "11610" "0" "11610" "0" "c.11610G>A" "r.(?)" "p.(Val3870=)" "" "" "" "0000313365" "00021614" "30" "11623" "0" "11623" "0" "c.11623G>A" "r.(?)" "p.(Val3875Ile)" "" "" "" "0000313366" "00021614" "10" "11644" "10" "11644" "10" "c.11644+10C>G" "r.(=)" "p.(=)" "" "" "" "0000313367" "00021614" "30" "11804" "0" "11804" "0" "c.11804G>A" "r.(?)" "p.(Arg3935Gln)" "" "" "" "0000313368" "00021614" "30" "11829" "0" "11829" "0" "c.11829C>T" "r.(?)" "p.(Thr3943=)" "" "" "" "0000313369" "00021614" "30" "11915" "0" "11915" "0" "c.11915A>C" "r.(?)" "p.(Asn3972Thr)" "" "" "" "0000313370" "00021614" "30" "11956" "0" "11956" "0" "c.11956C>A" "r.(?)" "p.(Leu3986Ile)" "" "" "" "0000313371" "00021614" "30" "12058" "0" "12058" "0" "c.12058C>T" "r.(?)" "p.(Leu4020=)" "" "" "" "0000313372" "00021614" "30" "12149" "0" "12149" "0" "c.12149G>A" "r.(?)" "p.(Arg4050His)" "" "" "" "0000313373" "00021614" "50" "12154" "0" "12154" "0" "c.12154C>T" "r.(?)" "p.(Arg4052Trp)" "" "" "" "0000313374" "00021614" "90" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "" "" "" "0000313376" "00021614" "50" "12204" "5" "12204" "5" "c.12204+5G>A" "r.spl?" "p.?" "" "" "" "0000313377" "00021614" "50" "12218" "0" "12218" "0" "c.12218G>A" "r.(?)" "p.(Arg4073His)" "" "" "" "0000313378" "00021614" "30" "12246" "0" "12246" "0" "c.12246G>A" "r.(?)" "p.(Arg4082=)" "" "" "" "0000313379" "00021614" "30" "12350" "0" "12350" "0" "c.12350G>A" "r.(?)" "p.(Arg4117His)" "" "" "" "0000313380" "00021614" "30" "12372" "0" "12372" "0" "c.12372C>T" "r.(?)" "p.(Asp4124=)" "" "" "" "0000313381" "00021614" "50" "12514" "0" "12514" "0" "c.12514G>A" "r.(?)" "p.(Asp4172Asn)" "" "" "" "0000313382" "00021614" "30" "12524" "0" "12524" "0" "c.12524G>A" "r.(?)" "p.(Ser4175Asn)" "" "" "" "0000313383" "00021614" "30" "12534" "0" "12534" "0" "c.12534C>T" "r.(?)" "p.(Ile4178=)" "" "" "" "0000313384" "00021614" "50" "12541" "0" "12541" "0" "c.12541G>A" "r.(?)" "p.(Ala4181Thr)" "" "" "" "0000313385" "00021614" "10" "12628" "-124" "12628" "-124" "c.12628-124G>A" "r.(=)" "p.(=)" "" "" "" "0000313386" "00021614" "10" "12628" "-127" "12628" "-127" "c.12628-127A>G" "r.(=)" "p.(=)" "" "" "" "0000313387" "00021614" "10" "12628" "-148" "12628" "-148" "c.12628-148A>G" "r.(=)" "p.(=)" "" "" "" "0000313388" "00021614" "10" "12628" "-158" "12628" "-158" "c.12628-158G>A" "r.(=)" "p.(=)" "" "" "" "0000313389" "00021614" "10" "12628" "-52" "12628" "-52" "c.12628-52A>G" "r.(=)" "p.(=)" "" "" "" "0000313390" "00021614" "10" "12628" "-80" "12628" "-80" "c.12628-80G>C" "r.(=)" "p.(=)" "" "" "" "0000313391" "00021614" "30" "12722" "0" "12722" "0" "c.12722G>T" "r.(?)" "p.(Gly4241Val)" "" "" "" "0000313392" "00021614" "10" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" "" "" "" "0000313393" "00021614" "30" "1671" "0" "1671" "0" "c.1671C>T" "r.(?)" "p.(Arg557=)" "" "" "" "0000313394" "00021614" "10" "1734" "0" "1734" "0" "c.1734C>T" "r.(?)" "p.(Asp578=)" "" "" "" "0000313395" "00021614" "10" "1837" "0" "1837" "0" "c.1837A>G" "r.(?)" "p.(Ser613Gly)" "" "" "" "0000313396" "00021614" "10" "1949" "0" "1949" "0" "c.1949G>A" "r.(?)" "p.(Arg650His)" "" "" "" "0000313397" "00021614" "30" "2030" "0" "2030" "0" "c.2030A>G" "r.(?)" "p.(Asp677Gly)" "" "" "" "0000313398" "00021614" "30" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Leu)" "" "" "" "0000313399" "00021614" "30" "2170" "0" "2170" "0" "c.2170C>T" "r.(?)" "p.(Arg724Cys)" "" "" "" "0000313400" "00021614" "10" "2367" "0" "2367" "0" "c.2367G>A" "r.(?)" "p.(Gly789=)" "" "" "" "0000313401" "00021614" "90" "2461" "0" "2461" "0" "c.2461C>T" "r.(?)" "p.(Arg821Ter)" "" "" "" "0000313402" "00021614" "90" "2590" "0" "2590" "0" "c.2590C>T" "r.(?)" "p.(Gln864Ter)" "" "" "" "0000313403" "00021614" "30" "2981" "0" "2981" "0" "c.2981G>A" "r.(?)" "p.(Arg994His)" "" "" "" "0000313404" "00021614" "10" "3191" "0" "3191" "0" "c.3191G>A" "r.(?)" "p.(Arg1064His)" "" "" "" "0000313405" "00021614" "90" "3290" "0" "3291" "0" "c.3290_3291del" "r.(?)" "p.(Lys1097ArgfsTer48)" "" "" "" "0000313406" "00021614" "30" "3380" "0" "3380" "0" "c.3380A>G" "r.(?)" "p.(Lys1127Arg)" "" "" "" "0000313407" "00021614" "10" "3482" "0" "3482" "0" "c.3482A>G" "r.(?)" "p.(His1161Arg)" "" "" "" "0000313408" "00021614" "30" "3488" "0" "3488" "0" "c.3488G>A" "r.(?)" "p.(Gly1163Glu)" "" "" "" "0000313409" "00021614" "30" "4209" "0" "4209" "0" "c.4209C>T" "r.(?)" "p.(Thr1403=)" "" "" "" "0000313410" "00021614" "10" "4241" "0" "4241" "0" "c.4241G>A" "r.(?)" "p.(Arg1414Gln)" "" "" "" "0000313411" "00021614" "10" "4332" "0" "4332" "0" "c.4332C>T" "r.(?)" "p.(His1444=)" "" "" "" "0000313412" "00021614" "10" "4484" "0" "4484" "0" "c.4484C>T" "r.(?)" "p.(Thr1495Ile)" "" "" "" "0000313413" "00021614" "30" "4562" "0" "4562" "0" "c.4562C>T" "r.(?)" "p.(Ala1521Val)" "" "" "" "0000313414" "00021614" "50" "4681" "5" "4681" "5" "c.4681+5G>A" "r.spl?" "p.?" "" "" "" "0000313415" "00021614" "10" "4848" "0" "4848" "0" "c.4848G>A" "r.(?)" "p.(Gly1616=)" "" "" "" "0000313416" "00021614" "10" "4885" "0" "4885" "0" "c.4885G>A" "r.(?)" "p.(Glu1629Lys)" "" "" "" "0000313417" "00021614" "30" "5084" "0" "5084" "0" "c.5084C>T" "r.(?)" "p.(Thr1695Met)" "" "" "" "0000313418" "00021614" "30" "5136" "0" "5136" "0" "c.5136C>T" "r.(?)" "p.(Asp1712=)" "" "" "" "0000313419" "00021614" "30" "5491" "0" "5491" "0" "c.5491G>A" "r.(?)" "p.(Val1831Met)" "" "" "" "0000313420" "00021614" "30" "5595" "0" "5595" "0" "c.5595G>A" "r.(?)" "p.(Arg1865=)" "" "" "" "0000313421" "00021614" "10" "5679" "0" "5679" "0" "c.5679G>A" "r.(?)" "p.(Thr1893=)" "" "" "" "0000313422" "00021614" "10" "5713" "0" "5713" "0" "c.5713G>A" "r.(?)" "p.(Glu1905Lys)" "" "" "" "0000313423" "00021614" "10" "5746" "0" "5746" "0" "c.5746A>G" "r.(?)" "p.(Thr1916Ala)" "" "" "" "0000313424" "00021614" "10" "5823" "0" "5823" "0" "c.5823C>T" "r.(?)" "p.(Ser1941=)" "" "" "" "0000313425" "00021614" "10" "5937" "0" "5937" "0" "c.5937C>T" "r.(?)" "p.(Thr1979=)" "" "" "" "0000313426" "00021614" "10" "6030" "0" "6030" "0" "c.6030C>T" "r.(?)" "p.(Pro2010=)" "" "" "" "0000313427" "00021614" "10" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Val203Met)" "" "" "" "0000313428" "00021614" "10" "6288" "0" "6288" "0" "c.6288G>A" "r.(?)" "p.(Pro2096=)" "" "" "" "0000313429" "00021614" "10" "6379" "0" "6379" "0" "c.6379G>A" "r.(?)" "p.(Val2127Met)" "" "" "" "0000313430" "00021614" "10" "6513" "0" "6513" "0" "c.6513C>T" "r.(?)" "p.(Arg2171=)" "" "" "" "0000313431" "00021614" "10" "6544" "11" "6544" "11" "c.6544+11A>G" "r.(=)" "p.(=)" "" "" "" "0000313432" "00021614" "30" "6649" "0" "6649" "0" "c.6649C>A" "r.(?)" "p.(Pro2217Thr)" "" "" "" "0000313433" "00021614" "10" "6696" "0" "6696" "0" "c.6696C>T" "r.(?)" "p.(Asp2232=)" "" "" "" "0000313434" "00021614" "10" "6811" "0" "6811" "0" "c.6811G>C" "r.(?)" "p.(Val2271Leu)" "" "" "" "0000313435" "00021614" "30" "6819" "0" "6819" "0" "c.6819C>T" "r.(?)" "p.(Pro2273=)" "" "" "" "0000313436" "00021614" "10" "6902" "0" "6902" "0" "c.6902C>A" "r.(?)" "p.(Pro2301His)" "" "" "" "0000313437" "00021614" "30" "6973" "0" "6973" "0" "c.6973G>A" "r.(?)" "p.(Val2325Ile)" "" "" "" "0000313438" "00021614" "10" "7168" "19" "7168" "19" "c.7168+19C>A" "r.(=)" "p.(=)" "" "" "" "0000313439" "00021614" "10" "7168" "5" "7168" "5" "c.7168+5G>A" "r.spl?" "p.?" "" "" "" "0000313440" "00021614" "10" "7235" "0" "7235" "0" "c.7235C>T" "r.(?)" "p.(Pro2412Leu)" "" "" "" "0000313441" "00021614" "10" "7251" "0" "7251" "0" "c.7251A>G" "r.(?)" "p.(Leu2417=)" "" "" "" "0000313442" "00021614" "30" "7377" "0" "7377" "0" "c.7377C>T" "r.(?)" "p.(Gly2459=)" "" "" "" "0000313443" "00021614" "30" "7378" "0" "7378" "0" "c.7378G>A" "r.(?)" "p.(Glu2460Lys)" "" "" "" "0000313444" "00021614" "10" "7461" "0" "7461" "0" "c.7461C>T" "r.(?)" "p.(Arg2487=)" "" "" "" "0000313445" "00021614" "10" "7483" "0" "7483" "0" "c.7483G>A" "r.(?)" "p.(Gly2495Ser)" "" "" "" "0000313446" "00021614" "10" "7553" "0" "7553" "0" "c.7553G>A" "r.(?)" "p.(Gly2518Glu)" "" "" "" "0000313447" "00021614" "30" "7694" "0" "7694" "0" "c.7694C>T" "r.(?)" "p.(Ala2565Val)" "" "" "" "0000313448" "00021614" "30" "7718" "0" "7718" "0" "c.7718G>A" "r.(?)" "p.(Ser2573Asn)" "" "" "" "0000313449" "00021614" "10" "7790" "0" "7790" "0" "c.7790G>A" "r.(?)" "p.(Arg2597Gln)" "" "" "" "0000313450" "00021614" "10" "7797" "0" "7797" "0" "c.7797G>A" "r.(?)" "p.(Leu2599=)" "" "" "" "0000313451" "00021614" "90" "7826" "-1" "7826" "-1" "c.7826-1G>C" "r.spl?" "p.?" "" "" "" "0000313452" "00021614" "30" "7856" "0" "7856" "0" "c.7856C>T" "r.(?)" "p.(Pro2619Leu)" "" "" "" "0000313453" "00021614" "30" "7906" "0" "7906" "0" "c.7906A>G" "r.(?)" "p.(Met2636Val)" "" "" "" "0000313454" "00021614" "30" "7919" "0" "7919" "0" "c.7919C>G" "r.(?)" "p.(Thr2640Ser)" "" "" "" "0000313455" "00021614" "30" "7954" "0" "7954" "0" "c.7954G>A" "r.(?)" "p.(Glu2652Lys)" "" "" "" "0000313456" "00021614" "30" "7995" "0" "7995" "0" "c.7995G>A" "r.(?)" "p.(Gly2665=)" "" "" "" "0000313457" "00021614" "10" "8111" "0" "8111" "0" "c.8111G>A" "r.(?)" "p.(Arg2704His)" "" "" "" "0000313458" "00021614" "10" "8192" "0" "8192" "0" "c.8192C>G" "r.(?)" "p.(Pro2731Arg)" "" "" "" "0000313459" "00021614" "30" "8478" "0" "8478" "0" "c.8478A>C" "r.(?)" "p.(Ala2826=)" "" "" "" "0000313460" "00021614" "10" "8592" "0" "8592" "0" "c.8592C>T" "r.(?)" "p.(Val2864=)" "" "" "" "0000313461" "00021614" "10" "8595" "0" "8595" "0" "c.8595C>T" "r.(?)" "p.(Pro2865=)" "" "" "" "0000313462" "00021614" "50" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Arg29Trp)" "" "" "" "0000313463" "00021614" "30" "8667" "0" "8667" "0" "c.8667G>A" "r.(?)" "p.(Pro2889=)" "" "" "" "0000313464" "00021614" "30" "86" "0" "86" "0" "c.86G>A" "r.(?)" "p.(Arg29Gln)" "" "" "" "0000313465" "00021614" "10" "8839" "0" "8839" "0" "c.8839C>A" "r.(?)" "p.(Pro2947Thr)" "" "" "" "0000313466" "00021614" "90" "903" "0" "903" "0" "c.903del" "r.(?)" "p.(Tyr301Ter)" "" "" "" "0000313467" "00021614" "10" "9044" "0" "9044" "0" "c.9044A>G" "r.(?)" "p.(Lys3015Arg)" "" "" "" "0000313468" "00021614" "30" "909" "0" "909" "0" "c.909C>G" "r.(?)" "p.(Gly303=)" "" "" "" "0000313469" "00021614" "30" "9110" "-13" "9110" "-13" "c.9110-13C>T" "r.(=)" "p.(=)" "" "" "" "0000313470" "00021614" "30" "9308" "0" "9308" "0" "c.9308G>A" "r.(?)" "p.(Arg3103Gln)" "" "" "" "0000313471" "00021614" "30" "9432" "0" "9432" "0" "c.9432G>A" "r.(?)" "p.(Thr3144=)" "" "" "" "0000313472" "00021614" "30" "9467" "0" "9467" "0" "c.9467C>T" "r.(?)" "p.(Thr3156Ile)" "" "" "" "0000313473" "00021614" "30" "9555" "0" "9555" "0" "c.9555C>T" "r.(?)" "p.(Thr3185=)" "" "" "" "0000313474" "00021614" "10" "9556" "0" "9556" "0" "c.9556G>A" "r.(?)" "p.(Val3186Ile)" "" "" "" "0000313475" "00021614" "30" "9606" "0" "9606" "0" "c.9606C>T" "r.(?)" "p.(Asp3202=)" "" "" "" "0000313476" "00021614" "10" "9625" "0" "9625" "0" "c.9625C>G" "r.(?)" "p.(Arg3209Gly)" "" "" "" "0000313477" "00021614" "10" "9637" "0" "9637" "0" "c.9637G>A" "r.(?)" "p.(Glu3213Lys)" "" "" "" "0000313478" "00021614" "30" "9657" "0" "9657" "0" "c.9657G>A" "r.(?)" "p.(Val3219=)" "" "" "" "0000313479" "00021614" "10" "9666" "0" "9666" "0" "c.9666G>A" "r.(?)" "p.(Leu3222=)" "" "" "" "0000316909" "00021614" "50" "1751" "0" "1751" "0" "c.1751A>T" "r.(?)" "p.(Asp584Val)" "" "" "" "0000316910" "00021614" "50" "3322" "0" "3322" "0" "c.3322G>A" "r.(?)" "p.(Val1108Met)" "" "" "" "0000316911" "00021614" "30" "3567" "0" "3567" "0" "c.3567C>T" "r.(?)" "p.(Phe1189=)" "" "" "" "0000316912" "00021614" "30" "3763" "0" "3763" "0" "c.3763C>G" "r.(?)" "p.(Arg1255Gly)" "" "" "" "0000316913" "00021614" "30" "3774" "0" "3774" "0" "c.3774C>T" "r.(?)" "p.(Phe1258=)" "" "" "" "0000316915" "00021614" "30" "6819" "0" "6819" "0" "c.6819C>T" "r.(?)" "p.(Pro2273=)" "" "" "" "0000316916" "00021614" "30" "6972" "0" "6972" "0" "c.6972G>A" "r.(?)" "p.(Thr2324=)" "" "" "" "0000316917" "00021614" "30" "6973" "0" "6973" "0" "c.6973G>A" "r.(?)" "p.(Val2325Ile)" "" "" "" "0000316918" "00021614" "50" "7946" "0" "7946" "0" "c.7946C>T" "r.(?)" "p.(Thr2649Met)" "" "" "" "0000316919" "00021614" "30" "939" "0" "939" "0" "c.939G>T" "r.(?)" "p.(Arg313=)" "" "" "" "0000316920" "00021614" "30" "9606" "0" "9606" "0" "c.9606C>T" "r.(?)" "p.(Asp3202=)" "" "" "" "0000316921" "00021614" "10" "9655" "0" "9655" "0" "c.9655G>A" "r.(?)" "p.(Val3219Met)" "" "" "" "0000316922" "00021614" "30" "9940" "0" "9940" "0" "c.9940G>A" "r.(?)" "p.(Ala3314Thr)" "" "" "" "0000330904" "00021614" "50" "12985" "0" "12985" "0" "c.*256G>A" "r.(=)" "p.(=)" "" "" "" "0000330906" "00021614" "50" "12718" "0" "12718" "0" "c.12718G>A" "r.(?)" "p.(Gly4240Arg)" "" "" "" "0000330907" "00021614" "50" "12524" "0" "12524" "0" "c.12524G>A" "r.(?)" "p.(Ser4175Asn)" "" "" "" "0000330908" "00021614" "50" "12166" "0" "12166" "0" "c.12166G>A" "r.(?)" "p.(Val4056Met)" "" "" "" "0000330910" "00021614" "50" "10911" "0" "10911" "0" "c.10911G>T" "r.(?)" "p.(Glu3637Asp)" "" "" "" "0000330911" "00021614" "50" "10671" "0" "10671" "0" "c.10671A>G" "r.(?)" "p.(Leu3557=)" "" "" "" "0000330914" "00021614" "50" "5983" "0" "5983" "0" "c.5983G>A" "r.(?)" "p.(Val1995Met)" "" "" "" "0000330916" "00021614" "50" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Gly829Ser)" "" "" "" "0000330917" "00021614" "50" "2366" "0" "2366" "0" "c.2366G>A" "r.(?)" "p.(Gly789Glu)" "" "" "" "0000330920" "00021614" "50" "1259" "0" "1259" "0" "c.1259T>C" "r.(?)" "p.(Val420Ala)" "" "" "" "0000330921" "00021614" "50" "86" "0" "86" "0" "c.86G>A" "r.(?)" "p.(Arg29Gln)" "" "" "" "0000336826" "00021614" "30" "15737" "0" "15737" "0" "c.*3008G>A" "r.(=)" "p.(=)" "" "" "" "0000337694" "00021614" "30" "15797" "0" "15797" "0" "c.*3068T>G" "r.(=)" "p.(=)" "" "" "" "0000337695" "00021614" "70" "15768" "0" "15768" "0" "c.*3039C>T" "r.(=)" "p.(=)" "" "" "" "0000337696" "00021614" "70" "15765" "0" "15765" "0" "c.*3036A>G" "r.(=)" "p.(=)" "" "" "" "0000337697" "00021614" "30" "15659" "0" "15659" "0" "c.*2930G>A" "r.(=)" "p.(=)" "" "" "" "0000337698" "00021614" "10" "14231" "0" "14231" "0" "c.*1502T>C" "r.(=)" "p.(=)" "" "" "" "0000337699" "00021614" "10" "14230" "0" "14230" "0" "c.*1501G>A" "r.(=)" "p.(=)" "" "" "" "0000337700" "00021614" "10" "13863" "0" "13863" "0" "c.*1134C>G" "r.(=)" "p.(=)" "" "" "" "0000337701" "00021614" "10" "13862" "0" "13862" "0" "c.*1133C>G" "r.(=)" "p.(=)" "" "" "" "0000337702" "00021614" "10" "12931" "0" "12931" "0" "c.*202C>T" "r.(=)" "p.(=)" "" "" "" "0000337703" "00021614" "10" "12892" "0" "12892" "0" "c.*163G>A" "r.(=)" "p.(=)" "" "" "" "0000339193" "00021614" "10" "12959" "0" "12959" "0" "c.*230C>T" "r.(=)" "p.(=)" "" "" "" "0000339816" "00021614" "30" "15535" "0" "15535" "0" "c.*2806G>A" "r.(=)" "p.(=)" "" "" "" "0000339817" "00021614" "10" "14959" "0" "14959" "0" "c.*2230C>T" "r.(=)" "p.(=)" "" "" "" "0000339818" "00021614" "10" "14276" "0" "14276" "0" "c.*1547A>G" "r.(=)" "p.(=)" "" "" "" "0000339819" "00021614" "10" "14065" "0" "14065" "0" "c.*1336G>C" "r.(=)" "p.(=)" "" "" "" "0000339820" "00021614" "30" "13538" "0" "13538" "0" "c.*809G>A" "r.(=)" "p.(=)" "" "" "" "0000339821" "00021614" "10" "13404" "0" "13404" "0" "c.*675G>A" "r.(=)" "p.(=)" "" "" "" "0000339822" "00021614" "30" "13144" "0" "13144" "0" "c.*415G>A" "r.(=)" "p.(=)" "" "" "" "0000341677" "00021614" "10" "14969" "0" "14969" "0" "c.*2240C>T" "r.(=)" "p.(=)" "" "" "" "0000342619" "00021614" "90" "13663" "0" "13663" "0" "c.*934G>A" "r.(=)" "p.(=)" "" "" "" "0000342724" "00021614" "90" "13543" "0" "13543" "0" "c.*814G>A" "r.(=)" "p.(=)" "" "" "" "0000342981" "00021614" "90" "12981" "0" "12981" "0" "c.*252C>G" "r.(=)" "p.(=)" "" "" "" "0000343742" "00021614" "70" "13365" "0" "13365" "0" "c.*636G>T" "r.(=)" "p.(=)" "" "" "" "0000343966" "00021614" "10" "14530" "0" "14530" "0" "c.*1801G>C" "r.(=)" "p.(=)" "" "" "" "0000344763" "00021614" "90" "13657" "0" "13657" "0" "c.*928G>A" "r.(=)" "p.(=)" "" "" "" "0000346039" "00021614" "90" "13403" "0" "13403" "0" "c.*674C>T" "r.(=)" "p.(=)" "" "" "" "0000346074" "00021614" "70" "13141" "0" "13141" "0" "c.*412C>T" "r.(=)" "p.(=)" "" "" "" "0000346173" "00021614" "70" "15487" "0" "15487" "0" "c.*2758C>T" "r.(=)" "p.(=)" "" "" "" "0000347088" "00021614" "70" "13911" "0" "13911" "0" "c.*1182G>A" "r.(=)" "p.(=)" "" "" "" "0000347152" "00021614" "10" "15538" "0" "15538" "0" "c.*2809G>A" "r.(=)" "p.(=)" "" "" "" "0000347802" "00021614" "70" "13962" "0" "13962" "0" "c.*1233T>C" "r.(=)" "p.(=)" "" "" "" "0000348689" "00021614" "90" "14900" "0" "14900" "0" "c.*2171G>C" "r.(=)" "p.(=)" "" "" "" "0000348891" "00021614" "10" "14006" "0" "14006" "0" "c.*1277C>G" "r.(=)" "p.(=)" "" "" "" "0000348922" "00021614" "90" "13907" "0" "13907" "0" "c.*1178G>T" "r.(=)" "p.(=)" "" "" "" "0000349055" "00021614" "10" "12951" "0" "12951" "0" "c.*222C>T" "r.(=)" "p.(=)" "" "" "" "0000349735" "00021614" "30" "15592" "0" "15592" "0" "c.*2863A>G" "r.(=)" "p.(=)" "" "" "" "0000350421" "00021614" "50" "14063" "0" "14063" "0" "c.*1334A>G" "r.(=)" "p.(=)" "" "" "" "0000351101" "00021614" "30" "15776" "0" "15776" "0" "c.*3047G>A" "r.(=)" "p.(=)" "" "" "" "0000351102" "00021614" "50" "15758" "0" "15758" "0" "c.*3029T>C" "r.(=)" "p.(=)" "" "" "" "0000351103" "00021614" "10" "15518" "0" "15518" "0" "c.*2789G>T" "r.(=)" "p.(=)" "" "" "" "0000351104" "00021614" "10" "15258" "0" "15258" "0" "c.*2529G>A" "r.(=)" "p.(=)" "" "" "" "0000351106" "00021614" "50" "13868" "0" "13868" "0" "c.*1139C>T" "r.(=)" "p.(=)" "" "" "" "0000470944" "00021614" "30" "8132" "0" "8132" "0" "c.8132T>C" "r.(?)" "p.(Ile2711Thr)" "" "" "" "0000528359" "00021614" "70" "15781" "0" "15781" "0" "c.*3052G>A" "r.(=)" "p.(=)" "" "" "" "0000528360" "00021614" "30" "15663" "0" "15663" "0" "c.*2934C>T" "r.(=)" "p.(=)" "" "" "" "0000528361" "00021614" "50" "15607" "0" "15607" "0" "c.*2878G>A" "r.(=)" "p.(=)" "" "" "" "0000528362" "00021614" "90" "15596" "0" "15596" "0" "c.*2867C>T" "r.(=)" "p.(=)" "" "" "" "0000528364" "00021614" "30" "15514" "0" "15514" "0" "c.*2785A>G" "r.(=)" "p.(=)" "" "" "" "0000528366" "00021614" "10" "15000" "0" "15000" "0" "c.*2271G>T" "r.(=)" "p.(=)" "" "" "" "0000528367" "00021614" "50" "14991" "0" "14991" "0" "c.*2262G>C" "r.(=)" "p.(=)" "" "" "" "0000528369" "00021614" "90" "14856" "0" "14856" "0" "c.*2127C>T" "r.(=)" "p.(=)" "" "" "" "0000528372" "00021614" "90" "14496" "0" "14496" "0" "c.*1767G>A" "r.(=)" "p.(=)" "" "" "" "0000528373" "00021614" "50" "14307" "0" "14307" "0" "c.*1578C>T" "r.(=)" "p.(=)" "" "" "" "0000528374" "00021614" "90" "14073" "0" "14073" "0" "c.*1344C>A" "r.(=)" "p.(=)" "" "" "" "0000528375" "00021614" "90" "13968" "0" "13968" "0" "c.*1239C>A" "r.(=)" "p.(=)" "" "" "" "0000528376" "00021614" "90" "13663" "0" "13663" "0" "c.*934G>A" "r.(=)" "p.(=)" "" "" "" "0000528377" "00021614" "90" "13657" "0" "13657" "0" "c.*928G>A" "r.(=)" "p.(=)" "" "" "" "0000528378" "00021614" "50" "13593" "0" "13593" "0" "c.*864C>T" "r.(=)" "p.(=)" "" "" "" "0000528379" "00021614" "30" "13562" "0" "13562" "0" "c.*833G>A" "r.(=)" "p.(=)" "" "" "" "0000528382" "00021614" "90" "13513" "0" "13513" "0" "c.*784G>A" "r.(=)" "p.(=)" "" "" "" "0000528383" "00021614" "50" "13512" "0" "13512" "0" "c.*783C>T" "r.(=)" "p.(=)" "" "" "" "0000528384" "00021614" "70" "13376" "0" "13378" "0" "c.*647_*649del" "r.(=)" "p.(=)" "" "" "" "0000528385" "00021614" "50" "13355" "0" "13355" "0" "c.*626C>T" "r.(=)" "p.(=)" "" "" "" "0000528386" "00021614" "10" "13350" "0" "13350" "0" "c.*621G>C" "r.(=)" "p.(=)" "" "" "" "0000528387" "00021614" "50" "13350" "0" "13350" "0" "c.*621G>C" "r.(=)" "p.(=)" "" "" "" "0000528388" "00021614" "30" "13335" "0" "13335" "0" "c.*606G>A" "r.(=)" "p.(=)" "" "" "" "0000528389" "00021614" "90" "13311" "0" "13311" "0" "c.*582C>T" "r.(=)" "p.(=)" "" "" "" "0000528390" "00021614" "30" "13300" "0" "13300" "0" "c.*571C>T" "r.(=)" "p.(=)" "" "" "" "0000528391" "00021614" "70" "13134" "0" "13134" "0" "c.*405G>A" "r.(=)" "p.(=)" "" "" "" "0000528394" "00021614" "50" "12586" "0" "12586" "0" "c.12586G>A" "r.(?)" "p.(Ala4196Thr)" "" "" "" "0000528395" "00021614" "10" "12463" "2" "12463" "2" "c.12463+2T>C" "r.spl?" "p.?" "" "" "" "0000528396" "00021614" "50" "12463" "2" "12463" "2" "c.12463+2T>C" "r.spl?" "p.?" "" "" "" "0000528397" "00021614" "30" "12373" "0" "12373" "0" "c.12373G>A" "r.(?)" "p.(Glu4125Lys)" "" "" "" "0000528398" "00021614" "10" "12301" "27" "12301" "27" "c.12301+27C>G" "r.(=)" "p.(=)" "" "" "" "0000528399" "00021614" "10" "12204" "39" "12204" "39" "c.12204+39dup" "r.(=)" "p.(=)" "" "" "" "0000528400" "00021614" "30" "12164" "0" "12164" "0" "c.12164A>T" "r.(?)" "p.(Asn4055Ile)" "" "" "" "0000528401" "00021614" "30" "11920" "-17" "11920" "-17" "c.11920-17C>G" "r.(=)" "p.(=)" "" "" "" "0000528402" "00021614" "30" "11919" "7" "11919" "7" "c.11919+7C>T" "r.(=)" "p.(=)" "" "" "" "0000528404" "00021614" "30" "11525" "-11" "11525" "-11" "c.11525-11C>T" "r.(=)" "p.(=)" "" "" "" "0000528405" "00021614" "10" "11525" "-36" "11525" "-36" "c.11525-36C>A" "r.(=)" "p.(=)" "" "" "" "0000528406" "00021614" "50" "11281" "0" "11281" "0" "c.11281C>T" "r.(?)" "p.(Gln3761Ter)" "" "" "" "0000528407" "00021614" "30" "10954" "0" "10954" "0" "c.10954T>G" "r.(?)" "p.(Ser3652Ala)" "" "" "" "0000528408" "00021614" "30" "10921" "12" "10921" "12" "c.10921+12C>T" "r.(=)" "p.(=)" "" "" "" "0000528409" "00021614" "50" "10888" "0" "10888" "0" "c.10888C>T" "r.(?)" "p.(Arg3630Cys)" "" "" "" "0000528410" "00021614" "30" "10806" "0" "10806" "0" "c.10806C>T" "r.(?)" "p.(Gly3602=)" "" "" "" "0000528411" "00021614" "50" "10772" "0" "10772" "0" "c.10772C>T" "r.(?)" "p.(Thr3591Met)" "" "" "" "0000528412" "00021614" "30" "10667" "0" "10667" "0" "c.10667G>A" "r.(?)" "p.(Arg3556His)" "" "" "" "0000528413" "00021614" "30" "10506" "0" "10506" "0" "c.10506A>G" "r.(?)" "p.(Val3502=)" "" "" "" "0000528414" "00021614" "50" "10400" "0" "10400" "0" "c.10400G>T" "r.(?)" "p.(Trp3467Leu)" "" "" "" "0000528415" "00021614" "10" "9751" "12" "9751" "12" "c.9751+12G>A" "r.(=)" "p.(=)" "" "" "" "0000528416" "00021614" "10" "9434" "-12" "9434" "-10" "c.9434-12_9434-10del" "r.(=)" "p.(=)" "" "" "" "0000528417" "00021614" "30" "9433" "8" "9433" "8" "c.9433+8A>G" "r.(=)" "p.(=)" "" "" "" "0000528418" "00021614" "30" "9339" "0" "9339" "0" "c.9339C>T" "r.(?)" "p.(Ile3113=)" "" "" "" "0000528419" "00021614" "30" "9110" "-12" "9110" "-12" "c.9110-12G>A" "r.(=)" "p.(=)" "" "" "" "0000528421" "00021614" "10" "8536" "0" "8536" "0" "c.8536G>A" "r.(?)" "p.(Gly2846Arg)" "" "" "" "0000528424" "00021614" "30" "8144" "-3" "8144" "-3" "c.8144-3C>T" "r.spl?" "p.?" "" "" "" "0000528425" "00021614" "30" "8137" "0" "8137" "0" "c.8137G>T" "r.(?)" "p.(Val2713Leu)" "" "" "" "0000528426" "00021614" "50" "8012" "0" "8012" "0" "c.8012C>T" "r.(?)" "p.(Ala2671Val)" "" "" "" "0000528427" "00021614" "30" "8012" "0" "8012" "0" "c.8012C>T" "r.(?)" "p.(Ala2671Val)" "" "" "" "0000528428" "00021614" "30" "7889" "0" "7889" "0" "c.7889G>A" "r.(?)" "p.(Arg2630His)" "" "" "" "0000528429" "00021614" "10" "7680" "0" "7680" "0" "c.7680C>T" "r.(?)" "p.(Asp2560=)" "" "" "" "0000528430" "00021614" "10" "7492" "8" "7492" "8" "c.7492+8G>A" "r.(=)" "p.(=)" "" "" "" "0000528431" "00021614" "50" "7270" "0" "7270" "0" "c.7270C>A" "r.(?)" "p.(Pro2424Thr)" "" "" "" "0000528433" "00021614" "30" "6810" "0" "6810" "0" "c.6810C>T" "r.(?)" "p.(Arg2270=)" "" "" "" "0000528434" "00021614" "50" "6649" "0" "6649" "0" "c.6649C>A" "r.(?)" "p.(Pro2217Thr)" "" "" "" "0000528435" "00021614" "10" "6348" "0" "6348" "0" "c.6348C>T" "r.(?)" "p.(Thr2116=)" "" "" "" "0000528437" "00021614" "30" "6220" "10" "6220" "10" "c.6220+10T>C" "r.(=)" "p.(=)" "" "" "" "0000528438" "00021614" "30" "6084" "0" "6084" "0" "c.6084C>T" "r.(?)" "p.(Pro2028=)" "" "" "" "0000528439" "00021614" "30" "5946" "0" "5946" "0" "c.5946C>T" "r.(?)" "p.(Pro1982=)" "" "" "" "0000528440" "00021614" "30" "5488" "0" "5488" "0" "c.5488A>C" "r.(?)" "p.(Ser1830Arg)" "" "" "" "0000528441" "00021614" "70" "5111" "0" "5112" "0" "c.5111_5112del" "r.(?)" "p.(Phe1704CysfsTer19)" "" "" "" "0000528442" "00021614" "30" "4964" "0" "4964" "0" "c.4964G>A" "r.(?)" "p.(Ser1655Asn)" "" "" "" "0000528444" "00021614" "30" "4674" "0" "4674" "0" "c.4674C>T" "r.(?)" "p.(Ile1558=)" "" "" "" "0000528445" "00021614" "70" "4535" "0" "4552" "0" "c.4535_4552del" "r.(?)" "p.(Asp1512_Val1517del)" "" "" "" "0000528447" "00021614" "30" "4323" "0" "4323" "0" "c.4323C>T" "r.(?)" "p.(Tyr1441=)" "" "" "" "0000528448" "00021614" "30" "4323" "0" "4323" "0" "c.4323C>T" "r.(?)" "p.(Tyr1441=)" "" "" "" "0000528449" "00021614" "50" "4010" "0" "4010" "0" "c.4010G>A" "r.(?)" "p.(Arg1337His)" "" "" "" "0000528450" "00021614" "10" "3764" "0" "3764" "0" "c.3764G>A" "r.(?)" "p.(Arg1255His)" "" "" "" "0000528451" "00021614" "10" "3419" "0" "3419" "0" "c.3419G>A" "r.(?)" "p.(Gly1140Asp)" "" "" "" "0000528452" "00021614" "50" "2783" "0" "2783" "0" "c.2783C>A" "r.(?)" "p.(Ser928Tyr)" "" "" "" "0000528453" "00021614" "10" "2761" "0" "2761" "0" "c.2761T>G" "r.(?)" "p.(Ser921Ala)" "" "" "" "0000528454" "00021614" "90" "2461" "0" "2461" "0" "c.2461C>T" "r.(?)" "p.(Arg821Ter)" "" "" "" "0000528455" "00021614" "30" "2373" "0" "2373" "0" "c.2373C>T" "r.(?)" "p.(Ser791=)" "" "" "" "0000528456" "00021614" "30" "2030" "0" "2030" "0" "c.2030A>G" "r.(?)" "p.(Asp677Gly)" "" "" "" "0000528458" "00021614" "50" "1739" "0" "1739" "0" "c.1739A>G" "r.(?)" "p.(Tyr580Cys)" "" "" "" "0000528459" "00021614" "10" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Arg490Gln)" "" "" "" "0000528460" "00021614" "30" "1302" "0" "1302" "0" "c.1302C>G" "r.(?)" "p.(Ala434=)" "" "" "" "0000528461" "00021614" "50" "1058" "0" "1058" "0" "c.1058T>A" "r.(?)" "p.(Val353Glu)" "" "" "" "0000528462" "00021614" "10" "904" "0" "904" "0" "c.904A>G" "r.(?)" "p.(Thr302Ala)" "" "" "" "0000528463" "00021614" "50" "605" "0" "605" "0" "c.605dup" "r.(?)" "p.(Cys202TrpfsTer59)" "" "" "" "0000528464" "00021614" "10" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Ala173Thr)" "" "" "" "0000528465" "00021614" "30" "411" "0" "411" "0" "c.411A>G" "r.(?)" "p.(Thr137=)" "" "" "" "0000591583" "00021614" "90" "5362" "0" "5362" "0" "c.5362del" "r.5362del" "p.Thr1788Profs*100" "15" "deletion" "nonsense" "0000598484" "00021614" "70" "8278" "0" "8278" "0" "c.8278C>T" "r.(?)" "p.(Gln2760*)" "24" "" "" "0000598485" "00021614" "70" "2359" "-1" "2779" "1" "c.(2358+1_2359-1)_(2779+1_2780-1)del" "r.(?)" "p.(Thr787Glyfs*40)" "5-6" "" "" "0000598486" "00021614" "70" "1150" "0" "1150" "0" "c.1150dup" "r.(?)" "p.(Glu384Glyfs*57)" "3" "" "" "0000598487" "00021614" "70" "11435" "0" "11524" "30" "c.11435_11524+30del" "r.spl?" "p.?" "35" "" "" "0000610284" "00021614" "70" "14904" "0" "14904" "0" "c.*2175G>A" "r.(=)" "p.(=)" "" "" "" "0000610285" "00021614" "70" "14635" "0" "14635" "0" "c.*1906C>T" "r.(=)" "p.(=)" "" "" "" "0000610286" "00021614" "90" "13355" "0" "13355" "0" "c.*626C>T" "r.(=)" "p.(=)" "" "" "" "0000610287" "00021614" "90" "13072" "0" "13072" "0" "c.*343G>A" "r.(=)" "p.(=)" "" "" "" "0000610288" "00021614" "90" "13072" "0" "13072" "0" "c.*343G>A" "r.(=)" "p.(=)" "" "" "" "0000610289" "00021614" "90" "12553" "0" "12553" "0" "c.12553C>T" "r.(?)" "p.(Arg4185Ter)" "" "" "" "0000610290" "00021614" "50" "12438" "0" "12438" "0" "c.12438C>A" "r.(?)" "p.(His4146Gln)" "" "" "" "0000610291" "00021614" "30" "5064" "0" "5064" "0" "c.5064C>T" "r.(?)" "p.(Asp1688=)" "" "" "" "0000610292" "00021614" "90" "2590" "0" "2590" "0" "c.2590C>T" "r.(?)" "p.(Gln864Ter)" "" "" "" "0000621691" "00021614" "30" "15607" "0" "15607" "0" "c.*2878G>C" "r.(=)" "p.(=)" "" "" "" "0000621692" "00021614" "50" "15552" "0" "15552" "0" "c.*2823G>A" "r.(=)" "p.(=)" "" "" "" "0000621693" "00021614" "30" "13319" "0" "13319" "0" "c.*590C>G" "r.(=)" "p.(=)" "" "" "" "0000621694" "00021614" "90" "12985" "0" "12985" "0" "c.*256G>A" "r.(=)" "p.(=)" "" "" "" "0000630992" "00021614" "70" "7826" "-1" "7826" "-1" "c.7826-1G>C" "r.spl" "p.?" "22" "" "" "0000630993" "00021614" "70" "9998" "0" "9998" "0" "c.9998dup" "r.(?)" "p.(Asn3333Lysfs*35)" "29" "" "" "0000651925" "00021614" "10" "5713" "0" "5713" "0" "c.5713G>A" "r.(?)" "p.(Glu1905Lys)" "" "" "" "0000651926" "00021614" "10" "3419" "0" "3419" "0" "c.3419G>A" "r.(?)" "p.(Gly1140Asp)" "" "" "" "0000651928" "00021614" "10" "3191" "0" "3191" "0" "c.3191G>A" "r.(?)" "p.(Arg1064His)" "" "" "" "0000651929" "00021614" "50" "2030" "0" "2030" "0" "c.2030A>G" "r.(?)" "p.(Asp677Gly)" "" "" "" "0000651930" "00021614" "10" "1734" "0" "1734" "0" "c.1734C>T" "r.(=)" "p.(=)" "" "" "" "0000655562" "00021614" "90" "12985" "0" "12985" "0" "c.*256G>A" "r.(=)" "p.(=)" "" "" "" "0000655563" "00021614" "10" "11056" "0" "11056" "0" "c.11056C>G" "r.(?)" "p.(Arg3686Gly)" "" "" "" "0000655564" "00021614" "30" "10578" "0" "10578" "0" "c.10578G>A" "r.(?)" "p.(Pro3526=)" "" "" "" "0000655565" "00021614" "30" "9482" "0" "9482" "0" "c.9482C>G" "r.(?)" "p.(Ala3161Gly)" "" "" "" "0000655566" "00021614" "30" "7208" "0" "7208" "0" "c.7208T>C" "r.(?)" "p.(Met2403Thr)" "" "" "" "0000655567" "00021614" "30" "6972" "0" "6972" "0" "c.6972G>A" "r.(?)" "p.(Thr2324=)" "" "" "" "0000655568" "00021614" "30" "2030" "0" "2030" "0" "c.2030A>G" "r.(?)" "p.(Asp677Gly)" "" "" "" "0000659785" "00021614" "50" "6074" "0" "6074" "0" "c.6074A>T" "r.(?)" "p.(Asp2025Val)" "" "" "" "0000660101" "00021614" "50" "7243" "0" "7243" "0" "c.7243G>C" "r.(?)" "p.(Gly2415Arg)" "" "" "" "0000664823" "00021614" "50" "9940" "0" "9940" "0" "c.9940G>A" "r.(?)" "p.(Ala3314Thr)" "" "" "" "0000664824" "00021614" "50" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Gly220Arg)" "" "" "" "0000669901" "00021614" "10" "1734" "0" "1734" "0" "c.1734C>T" "r.(=)" "p.(=)" "" "" "" "0000677737" "00021614" "30" "11584" "0" "11584" "0" "c.11584C>T" "r.(?)" "p.(His3862Tyr)" "" "" "" "0000677738" "00021614" "50" "10252" "0" "10252" "0" "c.10252A>G" "r.(?)" "p.(Arg3418Gly)" "" "" "" "0000677739" "00021614" "30" "9611" "0" "9611" "0" "c.9611A>G" "r.(?)" "p.(Gln3204Arg)" "" "" "" "0000677740" "00021614" "50" "7351" "0" "7351" "0" "c.7351C>T" "r.(?)" "p.(Arg2451Trp)" "" "" "" "0000677741" "00021614" "30" "4562" "0" "4562" "0" "c.4562C>T" "r.(?)" "p.(Ala1521Val)" "" "" "" "0000689701" "00021614" "30" "14015" "0" "14015" "0" "c.*1286G>A" "r.(=)" "p.(=)" "" "" "" "0000689702" "00021614" "50" "13215" "0" "13215" "0" "c.*486G>C" "r.(=)" "p.(=)" "" "" "" "0000689703" "00021614" "30" "12052" "15" "12052" "15" "c.12052+15G>A" "r.(=)" "p.(=)" "" "" "" "0000689704" "00021614" "30" "9606" "0" "9606" "0" "c.9606C>T" "r.(?)" "p.(Asp3202=)" "" "" "" "0000689705" "00021614" "30" "7954" "0" "7954" "0" "c.7954G>A" "r.(?)" "p.(Glu2652Lys)" "" "" "" "0000689706" "00021614" "30" "6819" "0" "6819" "0" "c.6819C>T" "r.(?)" "p.(Pro2273=)" "" "" "" "0000699781" "00021614" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Pro2490Arg)" "" "" "" "0000699822" "00021614" "70" "563" "0" "563" "0" "c.563C>T" "r.(?)" "p.(Pro188Leu)" "" "" "" "0000701814" "00021614" "30" "2870" "0" "2870" "0" "c.2870A>G" "r.(?)" "p.(Gln957Arg)" "" "" "" "0000703410" "00021614" "77" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Arg29Trp)" "2" "substitution" "missense" "0000703411" "00021614" "99" "107" "0" "108" "0" "c.107_108delinsA" "r.(?)" "p.(Ala36Aspfs*68)" "2" "delins" "nonsense" "0000703412" "00021614" "77" "903" "0" "903" "0" "c.903del" "r.(?)" "p.(Tyr301*)" "3" "deletion" "nonsense" "0000703413" "00021614" "97" "1150" "0" "1150" "0" "c.1150dup" "r.(?)" "p.(Glu384Glyfs*57)" "3" "duplication" "nonsense" "0000703414" "00021614" "99" "2116" "0" "2117" "0" "c.2116_2117dup" "r.(?)" "p.(Glu707*)" "3" "duplication" "frameshift" "0000703415" "00021614" "99" "2359" "-1" "2779" "1" "c.(2358+1_2359-1)_(2779+1_2780-1)del" "r.(?)" "p.(Thr787Glyfs*40)" "5-6" "deletion" "nonsense" "0000703416" "00021614" "77" "2461" "0" "2461" "0" "c.2461C>T" "r.(?)" "p.(Arg821*)" "5" "substitution" "nonsense" "0000703417" "00021614" "53" "2531" "0" "2531" "0" "c.2531A>G" "r.(?)" "p.(Gln844Arg)" "6" "substitution" "missense" "0000703418" "00021614" "99" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847*)" "6" "substitution" "nonsense" "0000703419" "00021614" "77" "2590" "0" "2590" "0" "c.2590C>T" "r.(?)" "p.(Gln864*)" "6" "substitution" "nonsense" "0000703420" "00021614" "77" "2590" "0" "2590" "0" "c.2590C>T" "r.(?)" "p.(Gln864*)" "6" "substitution" "nonsense" "0000703421" "00021614" "77" "2633" "0" "2633" "0" "c.2633G>A" "r.(?)" "p.(Gly878Asp)" "6" "substitution" "missense" "0000703422" "00021614" "99" "3290" "0" "3291" "0" "c.3290_3291del" "r.(?)" "p.(Lys1097Argfs*48)" "8" "deletion" "frameshift" "0000703423" "00021614" "99" "3290" "0" "3291" "0" "c.3290_3291del" "r.(?)" "p.(Lys1097Argfs*48)" "8" "deletion" "frameshift" "0000703424" "00021614" "77" "3290" "0" "3291" "0" "c.3290_3291del" "r.(?)" "p.(Lys1097Argfs*48)" "8" "deletion" "frameshift" "0000703425" "00021614" "77" "3322" "0" "3322" "0" "c.3322G>A" "r.(?)" "p.(Val1108Met)" "8" "substitution" "missense" "0000703426" "00021614" "71" "3488" "0" "3488" "0" "c.3488G>A" "r.(?)" "p.(Gly1163Glu)" "9" "substitution" "missense" "0000703427" "00021614" "99" "3574" "0" "3574" "0" "c.3574C>T" "r.(?)" "p.(Gln1192*)" "9" "substitution" "nonsense" "0000703428" "00021614" "97" "3637" "0" "3637" "0" "c.3637G>A" "r.(?)" "p.(Val1213Ile)" "9" "substitution" "missense" "0000703429" "00021614" "99" "3991" "0" "3991" "0" "c.3991G>A" "r.(?)" "p.(Gly1331Arg)" "10" "substitution" "missense" "0000703430" "00021614" "77" "6074" "0" "6074" "0" "c.6074A>T" "r.(?)" "p.(Asp2025Val)" "17" "substitution" "missense" "0000703431" "00021614" "97" "6074" "0" "6074" "0" "c.6074A>T" "r.(?)" "p.(Asp2025Val)" "17" "substitution" "missense" "0000703432" "00021614" "77" "6221" "-2" "6221" "-1" "c.6221-2_6221-1delinsCA" "r.spl" "p.?" "17i" "delins" "splicing affected?" "0000703433" "00021614" "71" "6649" "0" "6649" "0" "c.6649C>T" "r.(?)" "p.(Pro2217Ser)" "19" "substitution" "missense" "0000703434" "00021614" "55" "7348" "0" "7348" "0" "c.7348G>A" "r.(?)" "p.(Gly2450Arg)" "21" "substitution" "missense" "0000703435" "00021614" "99" "7560" "0" "7560" "0" "c.7560dup" "r.(?)" "p.(Glu2521Argfs*16)" "22" "duplication" "frameshift" "0000703436" "00021614" "97" "7774" "0" "7774" "0" "c.7774G>A" "r.(?)" "p.(Gly2592Ser)" "22" "substitution" "missense" "0000703437" "00021614" "51" "7802" "0" "7802" "0" "c.7802C>T" "r.(?)" "p.(Pro2601Leu)" "22" "substitution" "missense" "0000703438" "00021614" "51" "7826" "-4" "7826" "-4" "c.7826-4C>T" "r.spl" "p.?" "22i" "substitution" "splicing affected?" "0000703439" "00021614" "11" "7826" "-1" "7826" "-1" "c.7826-1G>C" "r.spl" "p.?" "22i" "substitution" "splicing affected?" "0000703440" "00021614" "99" "8278" "0" "8278" "0" "c.8278C>T" "r.(?)" "p.(Gln2760*)" "24" "substitution" "nonsense" "0000703441" "00021614" "99" "9764" "0" "9764" "0" "c.9764C>T" "r.(?)" "p.(Thr3255Ile)" "29" "substitution" "missense" "0000703442" "00021614" "71" "10040" "-4" "10040" "-4" "c.10040-4C>T" "r.(?)" "p.?" "29i" "substitution" "splicing affected?" "0000703443" "00021614" "57" "11155" "0" "11155" "0" "c.11155C>T" "r.(?)" "p.(Arg3719Trp)" "33" "substitution" "missense" "0000703444" "00021614" "99" "11155" "0" "11155" "0" "c.11155C>T" "r.(?)" "p.(Arg3719Trp)" "33" "substitution" "missense" "0000703445" "00021614" "77" "11155" "0" "11155" "0" "c.11155C>T" "r.(?)" "p.(Arg3719Trp)" "33" "substitution" "missense" "0000703446" "00021614" "77" "11435" "0" "11524" "30" "c.11435_11524+30del" "r.spl" "p.?" "35i" "deletion" "splicing affected?" "0000703447" "00021614" "11" "11435" "0" "11524" "30" "c.11435_11524+30del" "r.spl" "p.?" "35i" "deletion" "splicing affected?" "0000703448" "00021614" "11" "11435" "0" "11524" "30" "c.11435_11524+30del" "r.spl" "p.?" "35i" "deletion" "splicing affected?" "0000703449" "00021614" "11" "11435" "0" "11524" "30" "c.11435_11524+30del" "r.spl" "p.?" "35i" "deletion" "splicing affected?" "0000703450" "00021614" "11" "11435" "0" "11524" "30" "c.11435_11524+30del" "r.spl" "p.?" "35i" "deletion" "splicing affected?" "0000703451" "00021614" "11" "11435" "0" "11524" "30" "c.11435_11524+30del" "r.spl" "p.?" "35i" "deletion" "splicing affected?" "0000703452" "00021614" "77" "11435" "0" "11524" "30" "c.11435_11524+30del" "r.spl" "p.?" "35i" "deletion" "splicing affected?" "0000703453" "00021614" "73" "11956" "0" "11956" "0" "c.11956C>A" "r.(?)" "p.(Leu3986Ile)" "39" "substitution" "missense" "0000703454" "00021614" "77" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "40" "substitution" "missense" "0000703455" "00021614" "77" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "40" "substitution" "missense" "0000703456" "00021614" "77" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "40" "substitution" "missense" "0000703457" "00021614" "77" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "40" "substitution" "missense" "0000703458" "00021614" "77" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "40" "substitution" "missense" "0000703459" "00021614" "77" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "40" "substitution" "missense" "0000703460" "00021614" "77" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "40" "substitution" "missense" "0000703461" "00021614" "77" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "40" "substitution" "missense" "0000703462" "00021614" "77" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "40" "substitution" "missense" "0000703463" "00021614" "77" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "40" "substitution" "missense" "0000703464" "00021614" "71" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "40" "substitution" "missense" "0000703465" "00021614" "11" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "40" "substitution" "missense" "0000703466" "00021614" "11" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "40" "substitution" "missense" "0000703467" "00021614" "11" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "40" "substitution" "missense" "0000703468" "00021614" "11" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "40" "substitution" "missense" "0000703469" "00021614" "77" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "40" "substitution" "missense" "0000703470" "00021614" "99" "12214" "0" "12214" "0" "c.12214C>T" "r.(?)" "p.(Arg4072Cys)" "41" "substitution" "missense" "0000703471" "00021614" "71" "12214" "0" "12214" "0" "c.12214C>T" "r.(?)" "p.(Arg4072Cys)" "41" "substitution" "missense" "0000703472" "00021614" "71" "12218" "0" "12218" "0" "c.12218G>A" "r.(?)" "p.(Arg4073His)" "41" "substitution" "missense" "0000703473" "00021614" "77" "12218" "0" "12218" "0" "c.12218G>A" "r.(?)" "p.(Arg4073His)" "41" "substitution" "missense" "0000703474" "00021614" "11" "12464" "-1" "12464" "-1" "c.12464-1G>A" "r.spl" "p.?" "42i" "substitution" "splicing affected?" "0000703475" "00021614" "71" "12512" "0" "12512" "0" "c.12512G>A" "r.(?)" "p.(Arg4171Gln)" "43" "substitution" "missense" "0000703476" "00021614" "77" "12514" "0" "12514" "0" "c.12514G>A" "r.(?)" "p.(Asp4172Asn)" "43" "substitution" "missense" "0000703477" "00021614" "77" "12514" "0" "12514" "0" "c.12514G>A" "r.(?)" "p.(Asp4172Asn)" "43" "substitution" "missense" "0000703478" "00021614" "77" "12524" "0" "12524" "0" "c.12524G>A" "r.(?)" "p.(Ser4175Asn)" "43" "substitution" "missense" "0000703479" "00021614" "77" "12524" "0" "12524" "0" "c.12524G>A" "r.(?)" "p.(Ser4175Asn)" "43" "substitution" "missense" "0000703480" "00021614" "77" "12553" "0" "12553" "0" "c.12553C>T" "r.(?)" "p.(Arg4185*)" "43" "substitution" "nonsense" "0000720843" "00021614" "50" "14485" "0" "14485" "0" "c.*1756T>A" "r.(=)" "p.(=)" "" "" "" "0000720844" "00021614" "90" "13072" "0" "13072" "0" "c.*343G>A" "r.(=)" "p.(=)" "" "" "" "0000720845" "00021614" "50" "12103" "0" "12103" "0" "c.12103G>A" "r.(?)" "p.(Gly4035Arg)" "" "" "" "0000720846" "00021614" "30" "11381" "-13" "11381" "-13" "c.11381-13C>T" "r.(=)" "p.(=)" "" "" "" "0000720847" "00021614" "50" "9889" "0" "9889" "0" "c.9889G>A" "r.(?)" "p.(Ala3297Thr)" "" "" "" "0000720848" "00021614" "30" "9657" "0" "9657" "0" "c.9657G>A" "r.(?)" "p.(Val3219=)" "" "" "" "0000720849" "00021614" "30" "9308" "0" "9308" "0" "c.9308G>A" "r.(?)" "p.(Arg3103Gln)" "" "" "" "0000720850" "00021614" "10" "8839" "0" "8839" "0" "c.8839C>A" "r.(?)" "p.(Pro2947Thr)" "" "" "" "0000720851" "00021614" "30" "6367" "0" "6367" "0" "c.6367G>A" "r.(?)" "p.(Asp2123Asn)" "" "" "" "0000720852" "00021614" "30" "5268" "0" "5268" "0" "c.5268C>T" "r.(?)" "p.(Asp1756=)" "" "" "" "0000720853" "00021614" "30" "3763" "0" "3763" "0" "c.3763C>G" "r.(?)" "p.(Arg1255Gly)" "" "" "" "0000720854" "00021614" "30" "3445" "8" "3445" "8" "c.3445+8A>G" "r.(=)" "p.(=)" "" "" "" "0000720855" "00021614" "30" "3445" "8" "3445" "8" "c.3445+8A>G" "r.(=)" "p.(=)" "" "" "" "0000720856" "00021614" "10" "2779" "863" "2779" "863" "c.2779+863C>A" "r.(=)" "p.(=)" "" "" "" "0000720857" "00021614" "50" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Gly829Ser)" "" "" "" "0000720858" "00021614" "30" "618" "0" "618" "0" "c.618C>T" "r.(?)" "p.(Pro206=)" "" "" "" "0000789634" "00021614" "50" "5027" "0" "5027" "0" "c.5027G>A" "r.(?)" "p.(Arg1676His)" "14" "substitution" "missense" "0000802510" "00021614" "90" "13968" "0" "13968" "0" "c.*1239C>A" "r.(=)" "p.(=)" "" "" "" "0000802511" "00021614" "30" "13485" "0" "13485" "0" "c.*756G>A" "r.(=)" "p.(=)" "" "" "" "0000802512" "00021614" "90" "12982" "0" "12982" "0" "c.*253G>A" "r.(=)" "p.(=)" "" "" "" "0000802513" "00021614" "30" "12459" "0" "12459" "0" "c.12459C>T" "r.(?)" "p.(Thr4153=)" "" "" "" "0000802514" "00021614" "50" "12204" "5" "12204" "5" "c.12204+5G>A" "r.spl?" "p.?" "" "" "" "0000802515" "00021614" "30" "10362" "0" "10362" "0" "c.10362C>T" "r.(?)" "p.(Thr3454=)" "" "" "" "0000802516" "00021614" "30" "9773" "0" "9773" "0" "c.9773C>T" "r.(?)" "p.(Pro3258Leu)" "" "" "" "0000802517" "00021614" "30" "7906" "0" "7906" "0" "c.7906A>G" "r.(?)" "p.(Met2636Val)" "" "" "" "0000802518" "00021614" "30" "6750" "0" "6750" "0" "c.6750G>A" "r.(?)" "p.(Ser2250=)" "" "" "" "0000802519" "00021614" "30" "6544" "8" "6544" "8" "c.6544+8T>A" "r.(=)" "p.(=)" "" "" "" "0000802520" "00021614" "30" "5016" "0" "5016" "0" "c.5016G>C" "r.(?)" "p.(Gly1672=)" "" "" "" "0000802521" "00021614" "30" "4353" "0" "4353" "0" "c.4353G>A" "r.(?)" "p.(Pro1451=)" "" "" "" "0000802522" "00021614" "30" "4209" "0" "4209" "0" "c.4209C>T" "r.(?)" "p.(Thr1403=)" "" "" "" "0000802523" "00021614" "90" "4025" "0" "4028" "0" "c.4025_4028dup" "r.(?)" "p.(Val1344Cysfs*44)" "" "" "" "0000802524" "00021614" "30" "3272" "0" "3272" "0" "c.3272C>A" "r.(?)" "p.(Ser1091Tyr)" "" "" "" "0000802525" "00021614" "30" "2981" "0" "2981" "0" "c.2981G>A" "r.(?)" "p.(Arg994His)" "" "" "" "0000802526" "00021614" "50" "2633" "0" "2633" "0" "c.2633G>A" "r.(?)" "p.(Gly878Asp)" "" "" "" "0000802527" "00021614" "30" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Gly829Ser)" "" "" "" "0000802528" "00021614" "50" "1259" "0" "1259" "0" "c.1259T>A" "r.(?)" "p.(Val420Glu)" "" "" "" "0000802529" "00021614" "50" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Leu)" "" "" "" "0000831098" "00021614" "95" "5027" "0" "5027" "0" "c.5027G>A" "r.(?)" "p.(Arg1676His)" "14" "substitution" "missense" "0000851171" "00021614" "90" "13657" "0" "13657" "0" "c.*928G>A" "r.(=)" "p.(=)" "" "" "" "0000851172" "00021614" "30" "12052" "15" "12052" "15" "c.12052+15G>A" "r.(=)" "p.(=)" "" "" "" "0000851173" "00021614" "70" "10207" "0" "10207" "0" "c.10207C>T" "r.(?)" "p.(Gln3403*)" "" "" "" "0000851174" "00021614" "30" "9249" "0" "9249" "0" "c.9249C>G" "r.(?)" "p.(Gly3083=)" "" "" "" "0000851175" "00021614" "10" "9162" "0" "9162" "0" "c.9162G>A" "r.(?)" "p.(Glu3054=)" "" "" "" "0000851176" "00021614" "10" "8674" "0" "8674" "0" "c.8674G>A" "r.(?)" "p.(Glu2892Lys)" "" "" "" "0000851177" "00021614" "10" "4484" "0" "4484" "0" "c.4484C>T" "r.(?)" "p.(Thr1495Ile)" "" "" "" "0000851178" "00021614" "30" "3764" "0" "3764" "0" "c.3764G>A" "r.(?)" "p.(Arg1255His)" "" "" "" "0000851179" "00021614" "30" "3445" "8" "3445" "8" "c.3445+8A>G" "r.(=)" "p.(=)" "" "" "" "0000851180" "00021614" "30" "3277" "0" "3277" "0" "c.3277G>A" "r.(?)" "p.(Val1093Met)" "" "" "" "0000851181" "00021614" "10" "2385" "0" "2385" "0" "c.2385A>G" "r.(?)" "p.(Thr795=)" "" "" "" "0000851182" "00021614" "50" "2279" "0" "2279" "0" "c.2279T>G" "r.(?)" "p.(Leu760Trp)" "" "" "" "0000851183" "00021614" "30" "2170" "0" "2170" "0" "c.2170C>T" "r.(?)" "p.(Arg724Cys)" "" "" "" "0000851184" "00021614" "10" "904" "0" "904" "0" "c.904A>G" "r.(?)" "p.(Thr302Ala)" "" "" "" "0000851185" "00021614" "30" "675" "0" "675" "0" "c.675T>C" "r.(?)" "p.(Arg225=)" "" "" "" "0000851186" "00021614" "30" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Leu)" "" "" "" "0000860294" "00021614" "10" "14997" "0" "14997" "0" "c.*2268G>T" "r.(=)" "p.(=)" "" "" "" "0000860295" "00021614" "50" "14652" "0" "14652" "0" "c.*1923A>T" "r.(=)" "p.(=)" "" "" "" "0000860297" "00021614" "90" "13355" "0" "13355" "0" "c.*626C>T" "r.(=)" "p.(=)" "" "" "" "0000860298" "00021614" "30" "11339" "0" "11339" "0" "c.11339G>T" "r.(?)" "p.(Arg3780Leu)" "" "" "" "0000860299" "00021614" "30" "7826" "-17" "7826" "-17" "c.7826-17T>G" "r.(=)" "p.(=)" "" "" "" "0000860300" "00021614" "30" "4562" "0" "4562" "0" "c.4562C>T" "r.(?)" "p.(Ala1521Val)" "" "" "" "0000860301" "00021614" "30" "1671" "0" "1671" "0" "c.1671C>T" "r.(?)" "p.(Arg557=)" "" "" "" "0000860302" "00021614" "30" "1302" "0" "1302" "0" "c.1302C>G" "r.(?)" "p.(Ala434=)" "" "" "" "0000872423" "00021614" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "" "0000872424" "00021614" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "" "0000872425" "00021614" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "" "0000872430" "00021614" "90" "4411" "0" "4411" "0" "c.4411del" "r.(?)" "p.(Ser1471ProfsTer7)" "" "" "" "0000872431" "00021614" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "" "0000873582" "00021614" "70" "8201" "0" "8201" "0" "c.8201dup" "r.(?)" "p.(Glu2735*)" "" "" "" "0000887157" "00021614" "90" "13968" "0" "13968" "0" "c.*1239C>A" "r.(=)" "p.(=)" "" "" "" "0000887158" "00021614" "30" "12534" "0" "12534" "0" "c.12534C>T" "r.(?)" "p.(Ile4178=)" "" "" "" "0000887159" "00021614" "30" "12350" "0" "12350" "0" "c.12350G>A" "r.(?)" "p.(Arg4117His)" "" "" "" "0000887160" "00021614" "30" "12302" "-15" "12302" "-15" "c.12302-15G>A" "r.(=)" "p.(=)" "" "" "" "0000887161" "00021614" "30" "12150" "0" "12150" "0" "c.12150C>G" "r.(?)" "p.(Arg4050=)" "" "" "" "0000887162" "00021614" "30" "12052" "20" "12052" "20" "c.12052+20C>T" "r.(=)" "p.(=)" "" "" "" "0000887163" "00021614" "30" "11920" "-18" "11920" "-18" "c.11920-18C>T" "r.(=)" "p.(=)" "" "" "" "0000887164" "00021614" "30" "11919" "8" "11919" "8" "c.11919+8G>A" "r.(=)" "p.(=)" "" "" "" "0000887165" "00021614" "30" "11679" "0" "11679" "0" "c.11679G>A" "r.(?)" "p.(Ala3893=)" "" "" "" "0000887166" "00021614" "30" "10921" "12" "10921" "12" "c.10921+12C>T" "r.(=)" "p.(=)" "" "" "" "0000887167" "00021614" "30" "10807" "0" "10807" "0" "c.10807G>A" "r.(?)" "p.(Asp3603Asn)" "" "" "" "0000887168" "00021614" "30" "10577" "0" "10577" "0" "c.10577C>T" "r.(?)" "p.(Pro3526Leu)" "" "" "" "0000887169" "00021614" "30" "10451" "0" "10451" "0" "c.10451C>T" "r.(?)" "p.(Thr3484Met)" "" "" "" "0000887170" "00021614" "30" "10040" "-4" "10040" "-4" "c.10040-4C>T" "r.spl?" "p.?" "" "" "" "0000887171" "00021614" "30" "9940" "0" "9940" "0" "c.9940G>A" "r.(?)" "p.(Ala3314Thr)" "" "" "" "0000887172" "00021614" "30" "9110" "-12" "9110" "-12" "c.9110-12G>A" "r.(=)" "p.(=)" "" "" "" "0000887173" "00021614" "30" "9034" "0" "9034" "0" "c.9034T>C" "r.(?)" "p.(Cys3012Arg)" "" "" "" "0000887174" "00021614" "30" "8012" "0" "8012" "0" "c.8012C>T" "r.(?)" "p.(Ala2671Val)" "" "" "" "0000887175" "00021614" "30" "7720" "0" "7720" "0" "c.7720A>G" "r.(?)" "p.(Lys2574Glu)" "" "" "" "0000887176" "00021614" "30" "7297" "0" "7297" "0" "c.7297G>A" "r.(?)" "p.(Val2433Ile)" "" "" "" "0000887177" "00021614" "30" "7297" "0" "7297" "0" "c.7297G>A" "r.(?)" "p.(Val2433Ile)" "" "" "" "0000887178" "00021614" "30" "7208" "0" "7208" "0" "c.7208T>C" "r.(?)" "p.(Met2403Thr)" "" "" "" "0000887179" "00021614" "30" "6649" "0" "6649" "0" "c.6649C>A" "r.(?)" "p.(Pro2217Thr)" "" "" "" "0000887180" "00021614" "30" "6428" "0" "6428" "0" "c.6428G>A" "r.(?)" "p.(Gly2143Asp)" "" "" "" "0000887181" "00021614" "10" "5746" "0" "5746" "0" "c.5746A>G" "r.(?)" "p.(Thr1916Ala)" "" "" "" "0000887182" "00021614" "30" "5548" "0" "5548" "0" "c.5548G>A" "r.(?)" "p.(Gly1850Ser)" "" "" "" "0000887183" "00021614" "10" "4444" "0" "4444" "0" "c.4444G>A" "r.(?)" "p.(Val1482Met)" "" "" "" "0000887184" "00021614" "30" "4010" "0" "4010" "0" "c.4010G>A" "r.(?)" "p.(Arg1337His)" "" "" "" "0000887185" "00021614" "30" "3758" "0" "3758" "0" "c.3758C>A" "r.(?)" "p.(Pro1253His)" "" "" "" "0000887186" "00021614" "90" "3290" "0" "3291" "0" "c.3290_3291del" "r.(?)" "p.(Lys1097ArgfsTer48)" "" "" "" "0000887187" "00021614" "90" "3290" "0" "3291" "0" "c.3290_3291del" "r.(?)" "p.(Lys1097ArgfsTer48)" "" "" "" "0000887188" "00021614" "30" "2811" "0" "2811" "0" "c.2811C>A" "r.(?)" "p.(Thr937=)" "" "" "" "0000887189" "00021614" "30" "2716" "0" "2716" "0" "c.2716G>T" "r.(?)" "p.(Val906Leu)" "" "" "" "0000887190" "00021614" "30" "2373" "0" "2373" "0" "c.2373C>T" "r.(?)" "p.(Ser791=)" "" "" "" "0000887191" "00021614" "30" "1965" "0" "1965" "0" "c.1965C>G" "r.(?)" "p.(Asp655Glu)" "" "" "" "0000887192" "00021614" "30" "909" "0" "909" "0" "c.909C>G" "r.(?)" "p.(Gly303=)" "" "" "" "0000912462" "00021614" "30" "12993" "0" "12993" "0" "c.*264C>A" "r.(=)" "p.(=)" "" "" "" "0000912463" "00021614" "30" "9843" "0" "9843" "0" "c.9843G>A" "r.(?)" "p.(Thr3281=)" "" "" "" "0000912464" "00021614" "30" "9482" "0" "9482" "0" "c.9482C>G" "r.(?)" "p.(Ala3161Gly)" "" "" "" "0000912465" "00021614" "30" "8535" "0" "8535" "0" "c.8535C>G" "r.(?)" "p.(Leu2845=)" "" "" "" "0000912466" "00021614" "30" "7417" "0" "7417" "0" "c.7417C>T" "r.(?)" "p.(Arg2473Cys)" "" "" "" "0000912467" "00021614" "30" "7371" "0" "7371" "0" "c.7371T>C" "r.(?)" "p.(Val2457=)" "" "" "" "0000912468" "00021614" "50" "5983" "0" "5983" "0" "c.5983G>A" "r.(?)" "p.(Val1995Met)" "" "" "" "0000912469" "00021614" "30" "5442" "0" "5442" "0" "c.5442C>T" "r.(?)" "p.(Asp1814=)" "" "" "" "0000912470" "00021614" "30" "4062" "0" "4062" "0" "c.4062C>T" "r.(?)" "p.(Asp1354=)" "" "" "" "0000912471" "00021614" "30" "3072" "0" "3072" "0" "c.3072C>A" "r.(?)" "p.(Thr1024=)" "" "" "" "0000912472" "00021614" "30" "2366" "0" "2366" "0" "c.2366G>A" "r.(?)" "p.(Gly789Glu)" "" "" "" "0000912473" "00021614" "50" "959" "0" "959" "0" "c.959G>T" "r.(?)" "p.(Arg320Leu)" "" "" "" "0000912474" "00021614" "30" "197" "0" "197" "0" "c.197G>C" "r.(?)" "p.(Gly66Ala)" "" "" "" "0000912475" "00021614" "30" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "" "" "0000922740" "00021614" "11" "7797" "0" "7797" "0" "c.7797G>A" "r.(?)" "p.(Leu2599=)" "" "substitution" "silent" "0000924471" "00021614" "30" "11562" "0" "11562" "0" "c.11562G>A" "r.(?)" "p.(Leu3854=)" "" "" "" "0000924472" "00021614" "30" "11169" "0" "11169" "0" "c.11169C>T" "r.(?)" "p.(Ser3723=)" "" "" "" "0000924473" "00021614" "30" "10548" "0" "10548" "0" "c.10548C>T" "r.(?)" "p.(Tyr3516=)" "" "" "" "0000924474" "00021614" "30" "10189" "0" "10189" "0" "c.10189G>T" "r.(?)" "p.(Val3397Leu)" "" "" "" "0000924475" "00021614" "30" "9565" "0" "9565" "0" "c.9565G>A" "r.(?)" "p.(Gly3189Ser)" "" "" "" "0000924476" "00021614" "30" "9249" "0" "9249" "0" "c.9249C>G" "r.(?)" "p.(Gly3083=)" "" "" "" "0000924477" "00021614" "30" "7800" "0" "7800" "0" "c.7800C>T" "r.(?)" "p.(Gly2600=)" "" "" "" "0000924478" "00021614" "30" "7711" "0" "7711" "0" "c.7711C>G" "r.(?)" "p.(Gln2571Glu)" "" "" "" "0000924479" "00021614" "30" "7704" "0" "7704" "0" "c.7704T>C" "r.(?)" "p.(Val2568=)" "" "" "" "0000924480" "00021614" "30" "7413" "0" "7413" "0" "c.7413T>C" "r.(?)" "p.(Pro2471=)" "" "" "" "0000924481" "00021614" "30" "6971" "0" "6971" "0" "c.6971C>A" "r.(?)" "p.(Thr2324Lys)" "" "" "" "0000924482" "00021614" "30" "6024" "0" "6024" "0" "c.6024A>G" "r.(?)" "p.(Thr2008=)" "" "" "" "0000924483" "00021614" "10" "2242" "18" "2242" "18" "c.2242+18C>G" "r.(=)" "p.(=)" "" "" "" "0000924484" "00021614" "30" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(Ala183=)" "" "" "" "0000929170" "00021614" "30" "11169" "0" "11169" "0" "c.11169C>T" "r.(?)" "p.(Ser3723=)" "" "" "" "0000929171" "00021614" "50" "11137" "0" "11137" "0" "c.11137C>T" "r.(?)" "p.(Arg3713Trp)" "" "" "" "0000929172" "00021614" "10" "9655" "0" "9655" "0" "c.9655G>A" "r.(?)" "p.(Val3219Met)" "" "" "" "0000929173" "00021614" "30" "9565" "0" "9565" "0" "c.9565G>A" "r.(?)" "p.(Gly3189Ser)" "" "" "" "0000931486" "00021614" "90" "-1" "0" "1571" "0" "c.(?_-1)_(1571_1847)del" "r.(?)" "p.(?)" "" "" "deletion, multi exon" "0000931487" "00021614" "90" "11435" "0" "11524" "30" "c.11435_11524+30del" "r.?" "p.?" "" "" "deletion" "0000931488" "00021614" "90" "1650" "0" "1651" "0" "c.1650_1651del" "r.(?)" "p.(Glu552Argfs*41)" "" "" "deletion" "0000931489" "00021614" "90" "10274" "0" "10274" "0" "c.10274C>G" "r.(?)" "p.(Ser3425*)" "" "" "nonsense" "0000931491" "00021614" "90" "6948" "0" "6948" "0" "c.6948del" "r.(?)" "p.(Asp2317Thrfs*53)" "" "" "deletion" "0000931493" "00021614" "90" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "" "" "missense" "0000931495" "00021614" "90" "12174" "0" "12174" "0" "c.12174C>G" "r.(?)" "p.(Cys4058Trp)" "" "substitution" "missense" "0000931496" "00021614" "90" "8585" "0" "8585" "0" "c.8585G>A" "r.(?)" "p.(Trp2862*)" "" "substitution" "nonsense" "0000931498" "00021614" "90" "9271" "0" "9271" "0" "c.9271dup" "r.(?)" "p.(Gln3091Profs*31)" "" "duplication" "frameshift" "0000931529" "00021614" "90" "11435" "0" "11524" "30" "c.11435_11524+30del" "r.?" "p.?" "" "" "deletion" "0000931530" "00021614" "90" "11435" "0" "11524" "30" "c.11435_11524+30del" "r.?" "p.?" "" "" "" "0000931531" "00021614" "90" "11435" "0" "11524" "30" "c.11435_11524+30del" "r.?" "p.?" "" "" "" "0000931532" "00021614" "90" "11435" "0" "11524" "30" "c.11435_11524+30del" "r.?" "p.?" "" "" "deletion" "0000931533" "00021614" "90" "11432" "0" "11524" "27" "c.11432_11524+27del" "r.?" "p.?" "" "" "" "0000948689" "00021614" "90" "14880" "0" "14880" "0" "c.*2151G>A" "r.(=)" "p.(=)" "" "" "" "0000948690" "00021614" "70" "14880" "0" "14880" "0" "c.*2151G>A" "r.(=)" "p.(=)" "" "" "" "0000948691" "00021614" "50" "13386" "0" "13386" "0" "c.*657C>G" "r.(=)" "p.(=)" "" "" "" "0000948692" "00021614" "30" "9433" "8" "9433" "8" "c.9433+8A>G" "r.(=)" "p.(=)" "" "" "" "0000948693" "00021614" "30" "9432" "0" "9432" "0" "c.9432G>A" "r.(?)" "p.(Thr3144=)" "" "" "" "0000948694" "00021614" "30" "9327" "0" "9327" "0" "c.9327C>T" "r.(?)" "p.(=)" "" "" "" "0000948695" "00021614" "30" "8481" "0" "8481" "0" "c.8481G>A" "r.(?)" "p.(=)" "" "" "" "0000948696" "00021614" "30" "6971" "0" "6971" "0" "c.6971C>A" "r.(?)" "p.(Thr2324Lys)" "" "" "" "0000948697" "00021614" "30" "4674" "0" "4674" "0" "c.4674C>T" "r.(?)" "p.(Ile1558=)" "" "" "" "0000948698" "00021614" "50" "2827" "0" "2827" "0" "c.2827T>C" "r.(?)" "p.(Ser943Pro)" "" "" "" "0000964004" "00021614" "50" "14906" "0" "14906" "0" "c.*2177G>A" "r.(=)" "p.(=)" "" "" "" "0000964005" "00021614" "90" "13968" "0" "13968" "0" "c.*1239C>A" "r.(=)" "p.(=)" "" "" "" "0000964006" "00021614" "70" "13090" "0" "13090" "0" "c.*361G>A" "r.(=)" "p.(=)" "" "" "" "0000964007" "00021614" "50" "12586" "0" "12586" "0" "c.12586G>A" "r.(?)" "p.(Ala4196Thr)" "" "" "" "0000964008" "00021614" "30" "12414" "0" "12414" "0" "c.12414G>A" "r.(?)" "p.(=)" "" "" "" "0000964009" "00021614" "30" "12150" "0" "12150" "0" "c.12150C>G" "r.(?)" "p.(Arg4050=)" "" "" "" "0000964010" "00021614" "50" "10990" "0" "10990" "0" "c.10990G>A" "r.(?)" "p.(Val3664Met)" "" "" "" "0000964011" "00021614" "30" "9940" "0" "9940" "0" "c.9940G>A" "r.(?)" "p.(Ala3314Thr)" "" "" "" "0000964012" "00021614" "50" "9206" "0" "9206" "0" "c.9206C>T" "r.(?)" "p.(Ala3069Val)" "" "" "" "0000964013" "00021614" "30" "8468" "-7" "8468" "-7" "c.8468-7G>A" "r.(=)" "p.(=)" "" "" "" "0000964015" "00021614" "30" "8211" "0" "8211" "0" "c.8211G>A" "r.(?)" "p.(=)" "" "" "" "0000964016" "00021614" "30" "7486" "0" "7486" "0" "c.7486G>A" "r.(?)" "p.(Val2496Met)" "" "" "" "0000964017" "00021614" "50" "6358" "0" "6358" "0" "c.6358G>A" "r.(?)" "p.(Gly2120Ser)" "" "" "" "0000964018" "00021614" "50" "5965" "0" "5965" "0" "c.5965C>T" "r.(?)" "p.(Arg1989Cys)" "" "" "" "0000971533" "00021614" "70" "2461" "0" "2461" "0" "c.2461C>T" "r.(?)" "p.(Arg821*)" "" "" "" "0000977169" "00021614" "90" "14997" "0" "14997" "0" "c.*2268G>C" "r.(=)" "p.(=)" "" "" "" "0000977170" "00021614" "90" "14997" "0" "14997" "0" "c.*2268G>C" "r.(=)" "p.(=)" "" "" "" "0000977171" "00021614" "90" "14652" "0" "14652" "0" "c.*1923A>T" "r.(=)" "p.(=)" "" "" "" "0000977172" "00021614" "90" "13207" "0" "13207" "0" "c.*478G>A" "r.(=)" "p.(=)" "" "" "" "0000977173" "00021614" "50" "12512" "0" "12512" "0" "c.12512G>A" "r.(?)" "p.(Arg4171Gln)" "" "" "" "0000977174" "00021614" "30" "12420" "0" "12420" "0" "c.12420G>A" "r.(?)" "p.(=)" "" "" "" "0000977175" "00021614" "50" "11924" "0" "11924" "0" "c.11924T>A" "r.(?)" "p.(Ile3975Asn)" "" "" "" "0000977176" "00021614" "30" "11619" "0" "11619" "0" "c.11619T>C" "r.(?)" "p.(=)" "" "" "" "0000977177" "00021614" "50" "11090" "0" "11090" "0" "c.11090C>T" "r.(?)" "p.(Pro3697Leu)" "" "" "" "0000977178" "00021614" "50" "9773" "0" "9773" "0" "c.9773C>T" "r.(?)" "p.(Pro3258Leu)" "" "" "" "0000977179" "00021614" "50" "9719" "0" "9719" "0" "c.9719G>A" "r.(?)" "p.(Arg3240His)" "" "" "" "0000977180" "00021614" "30" "9034" "0" "9034" "0" "c.9034T>C" "r.(?)" "p.(Cys3012Arg)" "" "" "" "0000977181" "00021614" "10" "7954" "0" "7954" "0" "c.7954G>A" "r.(?)" "p.(Glu2652Lys)" "" "" "" "0000977182" "00021614" "10" "7417" "0" "7417" "0" "c.7417C>T" "r.(?)" "p.(Arg2473Cys)" "" "" "" "0000977183" "00021614" "10" "7413" "0" "7413" "0" "c.7413T>C" "r.(?)" "p.(Pro2471=)" "" "" "" "0000977184" "00021614" "50" "5244" "0" "5244" "0" "c.5244G>T" "r.(?)" "p.(Lys1748Asn)" "" "" "" "0000977185" "00021614" "50" "2633" "0" "2633" "0" "c.2633G>A" "r.(?)" "p.(Gly878Asp)" "" "" "" "0000995663" "00021614" "50" "14485" "0" "14485" "0" "c.*1756T>A" "r.(=)" "p.(=)" "" "" "" "0000995664" "00021614" "30" "12005" "0" "12005" "0" "c.12005T>C" "r.(?)" "p.(Met4002Thr)" "" "" "" "0000995665" "00021614" "50" "11542" "0" "11542" "0" "c.11542C>A" "r.(?)" "p.(Gln3848Lys)" "" "" "" "0000995666" "00021614" "30" "11541" "0" "11541" "0" "c.11541A>G" "r.(?)" "p.(=)" "" "" "" "0000995667" "00021614" "30" "11411" "0" "11411" "0" "c.11411A>G" "r.(?)" "p.(Gln3804Arg)" "" "" "" "0000995668" "00021614" "50" "11381" "-1" "11381" "-1" "c.11381-1G>A" "r.spl?" "p.?" "" "" "" "0000995669" "00021614" "30" "11339" "0" "11339" "0" "c.11339G>T" "r.(?)" "p.(Arg3780Leu)" "" "" "" "0000995670" "00021614" "30" "11097" "0" "11097" "0" "c.11097G>A" "r.(?)" "p.(=)" "" "" "" "0000995671" "00021614" "50" "11081" "0" "11081" "0" "c.11081C>T" "r.(?)" "p.(Thr3694Ile)" "" "" "" "0000995672" "00021614" "30" "10887" "0" "10887" "0" "c.10887G>A" "r.(?)" "p.(=)" "" "" "" "0000995673" "00021614" "30" "10776" "0" "10776" "0" "c.10776C>T" "r.(?)" "p.(=)" "" "" "" "0000995674" "00021614" "30" "10717" "0" "10717" "0" "c.10717T>C" "r.(?)" "p.(Ser3573Pro)" "" "" "" "0000995675" "00021614" "50" "10646" "0" "10646" "0" "c.10646C>T" "r.(?)" "p.(Pro3549Leu)" "" "" "" "0000995676" "00021614" "30" "10451" "0" "10451" "0" "c.10451C>T" "r.(?)" "p.(Thr3484Met)" "" "" "" "0000995677" "00021614" "30" "10189" "0" "10189" "0" "c.10189G>T" "r.(?)" "p.(Val3397Leu)" "" "" "" "0000995678" "00021614" "30" "9110" "-17" "9110" "-17" "c.9110-17C>T" "r.(=)" "p.(=)" "" "" "" "0000995679" "00021614" "30" "9079" "0" "9079" "0" "c.9079G>A" "r.(?)" "p.(Val3027Met)" "" "" "" "0000995680" "00021614" "50" "8834" "0" "8834" "0" "c.8834C>T" "r.(?)" "p.(Pro2945Leu)" "" "" "" "0000995681" "00021614" "30" "8654" "0" "8654" "0" "c.8654T>C" "r.(?)" "p.(Val2885Ala)" "" "" "" "0000995682" "00021614" "50" "8654" "0" "8654" "0" "c.8654T>C" "r.(?)" "p.(Val2885Ala)" "" "" "" "0000995683" "00021614" "30" "8285" "0" "8285" "0" "c.8285A>G" "r.(?)" "p.(His2762Arg)" "" "" "" "0000995684" "00021614" "50" "7828" "0" "7828" "0" "c.7828G>A" "r.(?)" "p.(Asp2610Asn)" "" "" "" "0000995685" "00021614" "30" "7694" "0" "7694" "0" "c.7694C>T" "r.(?)" "p.(Ala2565Val)" "" "" "" "0000995686" "00021614" "30" "7630" "0" "7630" "0" "c.7630G>A" "r.(?)" "p.(Val2544Ile)" "" "" "" "0000995687" "00021614" "30" "7378" "0" "7378" "0" "c.7378G>A" "r.(?)" "p.(Glu2460Lys)" "" "" "" "0000995688" "00021614" "30" "6767" "0" "6767" "0" "c.6767A>T" "r.(?)" "p.(His2256Leu)" "" "" "" "0000995689" "00021614" "30" "6367" "0" "6367" "0" "c.6367G>A" "r.(?)" "p.(Asp2123Asn)" "" "" "" "0000995690" "00021614" "30" "5605" "0" "5605" "0" "c.5605G>A" "r.(?)" "p.(Glu1869Lys)" "" "" "" "0000995691" "00021614" "30" "5442" "0" "5442" "0" "c.5442C>T" "r.(?)" "p.(Asp1814=)" "" "" "" "0000995692" "00021614" "50" "5074" "0" "5074" "0" "c.5074C>T" "r.(?)" "p.(Leu1692Phe)" "" "" "" "0000995693" "00021614" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Gly1433Arg)" "" "" "" "0000995694" "00021614" "50" "3346" "0" "3346" "0" "c.3346G>A" "r.(?)" "p.(Val1116Ile)" "" "" "" "0000995695" "00021614" "30" "3345" "0" "3345" "0" "c.3345C>T" "r.(?)" "p.(=)" "" "" "" "0000995696" "00021614" "30" "3322" "0" "3322" "0" "c.3322G>A" "r.(?)" "p.(Val1108Met)" "" "" "" "0000995697" "00021614" "90" "3290" "0" "3291" "0" "c.3290_3291del" "r.(?)" "p.(Lys1097ArgfsTer48)" "" "" "" "0000995698" "00021614" "50" "3277" "0" "3277" "0" "c.3277G>A" "r.(?)" "p.(Val1093Met)" "" "" "" "0000995699" "00021614" "50" "3256" "0" "3256" "0" "c.3256G>A" "r.(?)" "p.(Glu1086Lys)" "" "" "" "0000995700" "00021614" "50" "3038" "0" "3038" "0" "c.3038G>A" "r.(?)" "p.(Arg1013His)" "" "" "" "0000995701" "00021614" "30" "2981" "0" "2981" "0" "c.2981G>A" "r.(?)" "p.(Arg994His)" "" "" "" "0000995702" "00021614" "50" "2632" "0" "2632" "0" "c.2632G>A" "r.(?)" "p.(Gly878Ser)" "" "" "" "0000995703" "00021614" "30" "1751" "0" "1751" "0" "c.1751A>T" "r.(?)" "p.(Asp584Val)" "" "" "" "0000995704" "00021614" "50" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Gly462Asp)" "" "" "" "0000995705" "00021614" "50" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Leu)" "" "" "" "0001014202" "00021614" "50" "13614" "0" "13614" "0" "c.*885G>A" "r.(=)" "p.(=)" "" "" "" "0001014203" "00021614" "50" "13503" "0" "13503" "0" "c.*774C>T" "r.(=)" "p.(=)" "" "" "" "0001014204" "00021614" "30" "10362" "0" "10362" "0" "c.10362C>T" "r.(?)" "p.(Thr3454=)" "" "" "" "0001014205" "00021614" "30" "10140" "0" "10140" "0" "c.10140C>T" "r.(?)" "p.(=)" "" "" "" "0001014206" "00021614" "50" "9449" "0" "9449" "0" "c.9449G>C" "r.(?)" "p.(Ser3150Thr)" "" "" "" "0001014207" "00021614" "50" "9433" "5" "9433" "5" "c.9433+5G>A" "r.spl?" "p.?" "" "" "" "0001014208" "00021614" "30" "9327" "0" "9327" "0" "c.9327C>T" "r.(?)" "p.(=)" "" "" "" "0001014209" "00021614" "30" "8144" "-3" "8144" "-3" "c.8144-3C>T" "r.spl?" "p.?" "" "" "" "0001014210" "00021614" "50" "7459" "0" "7459" "0" "c.7459C>T" "r.(?)" "p.(Arg2487Cys)" "" "" "" "0001014211" "00021614" "50" "6169" "0" "6169" "0" "c.6169G>A" "r.(?)" "p.(Gly2057Ser)" "" "" "" "0001014212" "00021614" "10" "4444" "0" "4444" "0" "c.4444G>A" "r.(?)" "p.(Val1482Met)" "" "" "" "0001025204" "00021614" "50" "15498" "0" "15498" "0" "c.*2769G>C" "r.(=)" "p.(=)" "" "" "" "0001025205" "00021614" "30" "12302" "-15" "12302" "-15" "c.12302-15G>A" "r.(=)" "p.(=)" "" "" "" "0001025206" "00021614" "50" "12061" "0" "12061" "0" "c.12061C>T" "r.(?)" "p.(Arg4021Trp)" "" "" "" "0001025207" "00021614" "30" "12052" "11" "12052" "11" "c.12052+11G>A" "r.(=)" "p.(=)" "" "" "" "0001025208" "00021614" "30" "11919" "6" "11919" "6" "c.11919+6C>G" "r.(=)" "p.(=)" "" "" "" "0001025209" "00021614" "50" "11339" "0" "11339" "0" "c.11339G>A" "r.(?)" "p.(Arg3780Gln)" "" "" "" "0001025210" "00021614" "30" "11258" "-20" "11258" "-20" "c.11258-20G>A" "r.(=)" "p.(=)" "" "" "" "0001025211" "00021614" "50" "11249" "0" "11249" "0" "c.11249T>A" "r.(?)" "p.(Leu3750His)" "" "" "" "0001025212" "00021614" "30" "11161" "0" "11161" "0" "c.11161C>T" "r.(?)" "p.(Leu3721=)" "" "" "" "0001025213" "00021614" "30" "9635" "0" "9635" "0" "c.9635G>T" "r.(?)" "p.(Gly3212Val)" "" "" "" "0001025214" "00021614" "30" "9162" "0" "9162" "0" "c.9162G>A" "r.(?)" "p.(Glu3054=)" "" "" "" "0001025215" "00021614" "30" "7236" "0" "7236" "0" "c.7236G>A" "r.(?)" "p.(=)" "" "" "" "0001025216" "00021614" "30" "7044" "0" "7044" "0" "c.7044G>C" "r.(?)" "p.(=)" "" "" "" "0001025217" "00021614" "30" "6544" "8" "6544" "8" "c.6544+8T>A" "r.(=)" "p.(=)" "" "" "" "0001025218" "00021614" "30" "3445" "8" "3445" "8" "c.3445+8A>G" "r.(=)" "p.(=)" "" "" "" "0001025219" "00021614" "30" "2385" "0" "2385" "0" "c.2385A>G" "r.(?)" "p.(Thr795=)" "" "" "" "0001035689" "00021614" "70" "13674" "0" "13674" "0" "c.*945T>G" "r.(=)" "p.(=)" "" "" "" "0001035690" "00021614" "30" "12951" "0" "12951" "0" "c.*222C>T" "r.(=)" "p.(=)" "" "" "" "0001035691" "00021614" "50" "12178" "0" "12178" "0" "c.12178A>G" "r.(?)" "p.(Met4060Val)" "" "" "" "0001035692" "00021614" "50" "11523" "0" "11523" "0" "c.11523G>A" "r.(?)" "p.(=)" "" "" "" "0001035693" "00021614" "30" "7168" "11" "7168" "11" "c.7168+11G>A" "r.(=)" "p.(=)" "" "" "" "0001035694" "00021614" "30" "7098" "0" "7098" "0" "c.7098G>A" "r.(?)" "p.(=)" "" "" "" "0001035695" "00021614" "30" "6544" "8" "6544" "8" "c.6544+8T>A" "r.(=)" "p.(=)" "" "" "" "0001035696" "00021614" "50" "5244" "0" "5244" "0" "c.5244G>T" "r.(?)" "p.(Lys1748Asn)" "" "" "" "0001035697" "00021614" "30" "3191" "0" "3191" "0" "c.3191G>A" "r.(?)" "p.(Arg1064His)" "" "" "" "0001046062" "00021614" "90" "14885" "0" "14885" "0" "c.*2156C>T" "r.(=)" "p.(=)" "" "" "" "0001052306" "00021614" "50" "13125" "0" "13125" "0" "c.*396C>T" "r.(=)" "p.(=)" "" "" "" "0001052307" "00021614" "50" "12075" "0" "12075" "0" "c.12075C>T" "r.(?)" "p.(=)" "" "" "" "0001052308" "00021614" "50" "9503" "0" "9503" "0" "c.9503G>C" "r.(?)" "p.(Gly3168Ala)" "" "" "" "0001052309" "00021614" "90" "2590" "0" "2590" "0" "c.2590C>T" "r.(?)" "p.(Gln864Ter)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 116 "{{screeningid}}" "{{variantid}}" "0000229755" "0000470944" "0000261762" "0000591583" "0000267426" "0000598484" "0000267426" "0000598485" "0000267427" "0000598486" "0000267427" "0000598487" "0000276843" "0000630992" "0000276843" "0000630993" "0000295236" "0000651925" "0000295237" "0000651926" "0000295239" "0000651928" "0000295240" "0000651929" "0000295241" "0000651930" "0000297160" "0000659785" "0000297499" "0000660101" "0000301753" "0000664823" "0000301753" "0000664824" "0000306213" "0000669901" "0000317257" "0000699781" "0000317298" "0000699822" "0000319161" "0000701814" "0000320678" "0000703410" "0000320679" "0000703411" "0000320679" "0000703439" "0000320680" "0000703412" "0000320680" "0000703474" "0000320681" "0000703413" "0000320681" "0000703446" "0000320682" "0000703414" "0000320683" "0000703415" "0000320683" "0000703440" "0000320684" "0000703416" "0000320684" "0000703451" "0000320685" "0000703417" "0000320686" "0000703418" "0000320686" "0000703427" "0000320687" "0000703419" "0000320687" "0000703480" "0000320688" "0000703420" "0000320688" "0000703450" "0000320688" "0000703467" "0000320689" "0000703421" "0000320690" "0000703422" "0000320691" "0000703423" "0000320692" "0000703424" "0000320692" "0000703449" "0000320692" "0000703466" "0000320693" "0000703425" "0000320694" "0000703426" "0000320695" "0000703428" "0000320695" "0000703436" "0000320696" "0000703429" "0000320697" "0000703430" "0000320698" "0000703431" "0000320699" "0000703432" "0000320700" "0000703433" "0000320701" "0000703434" "0000320701" "0000703435" "0000320702" "0000703437" "0000320702" "0000703438" "0000320703" "0000703441" "0000320704" "0000703442" "0000320705" "0000703443" "0000320706" "0000703444" "0000320707" "0000703445" "0000320708" "0000703447" "0000320708" "0000703464" "0000320709" "0000703448" "0000320709" "0000703465" "0000320710" "0000703452" "0000320711" "0000703453" "0000320712" "0000703454" "0000320713" "0000703455" "0000320714" "0000703456" "0000320715" "0000703457" "0000320716" "0000703458" "0000320717" "0000703459" "0000320718" "0000703460" "0000320719" "0000703461" "0000320719" "0000703472" "0000320719" "0000703476" "0000320719" "0000703478" "0000320720" "0000703462" "0000320720" "0000703473" "0000320720" "0000703477" "0000320720" "0000703479" "0000320721" "0000703463" "0000320722" "0000703468" "0000320723" "0000703469" "0000320724" "0000703470" "0000320725" "0000703471" "0000320726" "0000703475" "0000377325" "0000789634" "0000398831" "0000831098" "0000414718" "0000872423" "0000414719" "0000872424" "0000414720" "0000872425" "0000414725" "0000872430" "0000414726" "0000872431" "0000415713" "0000873582" "0000436369" "0000922740" "0000436819" "0000931486" "0000436820" "0000931487" "0000436821" "0000931488" "0000436822" "0000931489" "0000436822" "0000931530" "0000436824" "0000931491" "0000436824" "0000931531" "0000436826" "0000931493" "0000436828" "0000931495" "0000436828" "0000931529" "0000436829" "0000931496" "0000436829" "0000931532" "0000436831" "0000931498" "0000436831" "0000931533" "0000449946" "0000971533"