### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PCNT) # 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}}" "PCNT" "pericentrin" "21" "q22.3" "unknown" "NG_008961.1" "UD_132118824057" "" "https://www.LOVD.nl/PCNT" "" "1" "16068" "5116" "605925" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PCNT_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-03-31 00:00:00" "00006" "2017-08-07 14:33:40" "00000" "2025-05-05 21:14:00" ## 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}}" "00015829" "PCNT" "pericentrin" "001" "NM_006031.5" "" "NP_006022.3" "" "" "" "-107" "10453" "10011" "47744036" "47865682" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00126" "SCKL" "Seckel syndrome (SCKL)" "" "" "" "" "" "00006" "2013-05-07 07:32:22" "00006" "2023-03-14 15:38:11" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00275" "MOPD2" "dwarfism, primordial, osteodysplastic, microcephalic type II" "AR" "210720" "" "autosomal recessive" "" "00006" "2013-11-22 15:29:13" "00006" "2025-01-18 11:41:34" "00277" "DWFP" "dwarfism, primordial (DWFP)" "" "" "" "" "" "00006" "2013-11-22 16:21:08" "00006" "2015-12-07 07:11:25" "05268" "SCKL1" "Seckel syndrome, type 1" "AR" "210600" "" "" "" "00006" "2017-05-18 15:07:04" "00006" "2023-03-14 15:38:48" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05525" "MOPD" "dwarfism, primordial, osteodysplastic, microcephalic (MOPD)" "" "" "" "" "" "00006" "2018-12-01 16:39:22" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "PCNT" "00139" "PCNT" "00275" "PCNT" "05525" ## Individuals ## Do not remove or alter this header ## ## Count = 65 "{{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}}" "00004045" "" "" "" "1" "" "00549" "{PMID:Shaheen 2014:24389050}, {DOI:Shaheen 2014:10.1101/gr.160572.113}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00080951" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00114686" "" "" "" "2" "" "01533" "{PMID:Griffith 2008:18157127}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "Saudi Arabia" "" "0" "" "" "" "Fam1Pat1" "00114687" "" "" "00114686" "1" "" "01533" "{PMID:Griffith 2008:18157127}" "sister" "F" "" "Saudi Arabia" "" "0" "" "" "" "Fam1Pat2" "00114688" "" "" "" "1" "" "01533" "{PMID:Willems 2010:19643772}" "Microdontia, Pyelic ectasia" "F" "" "Morocco" "" "0" "" "" "" "" "00114689" "" "" "" "1" "" "01533" "{PMID:Griffith 2008:18157127}" "2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents" "F" "yes" "Kuwait" "" "0" "" "" "" "Fam3" "00114690" "" "" "" "1" "" "01533" "{PMID:Willems 2010:19643772}" "Cafe au lait spots. Moyamoya disease complicated with rupture of CNS vessels." "M" "" "Algeria" "" "0" "" "" "" "" "00114691" "" "" "" "1" "" "01533" "{PMID:Willems 2010:19643772}" "Poor sucking.Vomiting. Hyperlaxity. Horseshoe kidney.Hypertonia. Subglottic stenosis. Recurrent upper respiratory tract infections. Micropenis High squeaky, nasal voice" "M" "" "Turkey" "" "0" "" "" "" "" "00114692" "" "" "" "1" "" "01533" "{PMID:Willems 2010:19643772}" "Horseshoe kidney. Clinodactyly of fifth finger. Rupture of CNS vessels leading to death (20 years)" "M" "" "France" "" "0" "" "" "" "" "00114693" "" "" "" "1" "" "01533" "{PMID:Willems 2010:19643772}" "" "F" "" "Morocco" "" "0" "" "" "" "" "00114694" "" "" "" "1" "" "01533" "{PMID:Griffith 2008:18157127}" "2-generation family, 1 affected, unaffected heterozygous carrier 1st-cousin parents" "M" "yes" "Morocco" "" "0" "" "" "" "Fam4" "00114695" "" "" "" "1" "" "01533" "{PMID:Willems 2010:19643772}" "Micropenis. Cafe au lait spots. Livedo reticularis. Cirrhosis. High squeaky, nasal voice" "M" "" "Italy" "" "0" "" "" "" "" "00114696" "" "" "" "1" "" "01533" "{PMID:Willems 2010:19643772}" "Cafe au lait spots, areas of depigmention Hepatic cytolysis. Subglottic stenosis Recurrent upper respiratory tract infections" "F" "" "Morocco" "" "0" "" "" "" "" "00114697" "" "" "" "1" "" "01533" "{PMID:Willems 2010:19643772}" "Sparse scalp hair. Receding forehead. Prominent curved nose, Micrognatia. Low set ears. Clinodactyly. Highpitched voice. Stridor. Upper respiratory tract infections" "M" "" "Lebanon" "" "0" "" "" "" "" "00114698" "" "" "" "1" "" "01533" "{PMID:Willems 2010:19643772}" "Anemia. Body asymmetry Radial head dislocation" "M" "" "France" "" "0" "" "" "" "" "00114699" "" "" "" "1" "" "01533" "{PMID:Willems 2010:19643772}" "Cafe au lait spots, area of depigmentation. Polycystic ovaries. Chromosomal breakage" "F" "" "Pakistan" "" "0" "" "" "" "" "00114700" "" "" "" "1" "" "01533" "{PMID:Willems 2010:19643772}" "Hypertonia. Micropenis." "?" "" "Morocco" "" "0" "" "" "" "" "00114701" "" "" "" "1" "" "01533" "{PMID:Willems 2010:19643772}" "High squeaky voice. Cafe au lait spots." "F" "" "Morocco" "" "0" "" "" "" "" "00114702" "" "" "" "1" "" "01533" "{PMID:Willems 2010:19643772}" "Poïkilodermia. Atrial septal defect." "M" "" "Sri Lanka" "" "0" "" "" "" "" "00293050" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293051" "" "" "" "52" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293052" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293054" "" "" "" "26" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293055" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293056" "" "" "" "228" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295453" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304884" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304885" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304886" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307960" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "familial" "F" "" "" "" "0" "" "" "" "17DG0772" "00331541" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "17DG0808" "00359446" "" "" "" "1" "" "01709" "" "" "" "" "(Brazil)" "" "0" "" "" "" "" "00374435" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4839" "00390054" "" "" "" "1" "" "00006" "{PMID:Kritioti 2021:34324503}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "F" "yes" "Cyprus" "" "0" "" "" "Greece" "Pat1" "00460130" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "F" "yes" "Turkey" "" "0" "" "" "" "Pat1" "00460131" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "F" "yes" "" "" "0" "" "" "Kurdish" "Pat2" "00460132" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "M" "yes" "Oman" "" "0" "" "" "" "Pat3" "00460133" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "Pat4" "00460134" "" "" "" "1" "" "00006" "{PMID:Majewski 1998:9800908}, {PMID:Rauch 2008:18174396}" "" "M" "no" "Turkey" "" "0" "" "" "" "Pat1;Pat5" "00460135" "" "" "" "1" "" "00006" "{PMID:Young 2004:15108216}, {PMID:Rauch 2008:18174396}" "" "F" "yes" "India" "" "0" "" "" "" "patient;Pat6" "00460136" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "M" "yes" "India" "" "0" "" "" "" "Pat7" "00460137" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "F" "yes" "Portugal" "" "0" "" "" "" "Pat8" "00460138" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "M" "no" "Belgium" "" "0" "" "" "" "Pat9" "00460139" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "F" "yes" "Oman" "" "0" "" "" "" "Pat10" "00460140" "" "" "" "1" "" "00006" "{PMID:Majewski 1998:9800908}, {PMID:Rauch 2008:18174396}" "" "M" "no" "Turkey" "" "0" "" "" "" "Pat3;Pat11" "00460141" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "M" "no" "Germany" "" "0" "" "" "" "Pat12" "00460142" "" "" "" "1" "" "00006" "{PMID:Majewski 1998:9800908}, {PMID:Rauch 2008:18174396}" "" "M" "yes" "Turkey" "" "0" "" "" "" "PPat2;at13" "00460143" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "M" "yes" "Palestine" "" "0" "" "" "" "Pat14" "00460144" "" "" "" "2" "" "00006" "{PMID:Rauch 2008:18174396}" "4-generation family, 2 affected brothers" "M" "yes" "Netherlands" "" "0" "" "" "" "Pat15a" "00460145" "" "" "00460144" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "brother" "M" "yes" "Netherlands" "" "0" "" "" "" "Pat15b" "00460146" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "M" "yes" "(Iraq)" "" "0" "" "" "" "Pat16" "00460147" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "F" "yes" "Lebanon" "" "0" "" "" "" "Pat17" "00460148" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "F" "no" "Poland" "" "0" "" "" "" "Pat18" "00460149" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "F" "no" "Netherlands" "" "0" "" "" "" "Pat19" "00460150" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "F" "no" "England" "" "0" "" "" "" "Pat20" "00460151" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "M" "no" "England" "" "0" "" "" "" "Pat21" "00460152" "" "" "" "1" "" "00006" "{PMID:Brancati 2005:16278902}, {PMID:Rauch 2008:18174396}" "" "M" "no" "Italy" "" "0" "" "" "" "patient;Pat22" "00460153" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "M" "no" "Ireland" "" "0" "" "" "" "Pat23" "00460154" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "M" "no" "Germany" "" "0" "" "" "" "Pat24" "00460155" "" "" "" "1" "" "00006" "{PMID:Rauch 2008:18174396}" "" "F" "no" "England" "" "0" "" "" "" "Pat25" "00460156" "" "" "" "2" "" "00006" "{PMID:Kantaputra 2011:21567919}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "" "Thailand" "" "0" "" "" "" "FamPatII1/2" "00460157" "" "" "" "2" "" "00006" "{PMID:Kantaputra 2011:21567919}" "5-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "F;M" "" "Thailand" "" "0" "" "" "" "Fam2PatII1/2" "00460158" "" "" "" "1" "" "00006" "{PMID:Piane 2009:19839044}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "" "patient" "00460159" "" "" "" "1" "" "00006" "{PMID:Weiss 2020:30922925}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Israel" "" "0" "" "" "Druze" "Fam1" "00460160" "" "" "" "1" "" "00006" "{PMID:Weiss 2020:30922925}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Israel" "" "0" "" "" "Druze" "Fam2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 65 "{{individualid}}" "{{diseaseid}}" "00004045" "00275" "00080951" "00275" "00114686" "00126" "00114687" "00126" "00114688" "05268" "00114689" "00126" "00114690" "00275" "00114691" "00275" "00114692" "05268" "00114693" "00275" "00114694" "00126" "00114695" "00275" "00114696" "05268" "00114697" "05268" "00114698" "00275" "00114699" "05268" "00114700" "00275" "00114701" "00275" "00114702" "00275" "00293050" "00198" "00293051" "00198" "00293052" "00198" "00293054" "00198" "00293055" "00198" "00293056" "00198" "00295453" "00198" "00304884" "00198" "00304885" "00198" "00304886" "00198" "00307960" "00139" "00331541" "05517" "00359446" "05525" "00374435" "00198" "00390054" "00198" "00460130" "00277" "00460131" "00277" "00460132" "00277" "00460133" "00277" "00460134" "00277" "00460135" "00277" "00460136" "00277" "00460137" "00277" "00460138" "00277" "00460139" "00277" "00460140" "00277" "00460141" "00277" "00460142" "00277" "00460143" "00277" "00460144" "00277" "00460145" "00277" "00460146" "00277" "00460147" "00277" "00460148" "00277" "00460149" "00277" "00460150" "00277" "00460151" "00277" "00460152" "00277" "00460153" "00277" "00460154" "00277" "00460155" "00277" "00460156" "05525" "00460157" "05525" "00460158" "00126" "00460159" "05525" "00460160" "05525" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00126, 00139, 00198, 00275, 00277, 05268, 05517, 05525 ## Count = 55 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Growth/Height_SDS}}" "{{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}}" "0000002839" "00198" "00004045" "00549" "Familial, autosomal recessive" "" "preterm, IUGR, delayed motor and speech development, high-pitched voice and recurrent chest infections" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060520" "00275" "00080951" "01758" "Familial, autosomal recessive" "" "Microcephalic osteodysplastic primordial dwarfism, type II (OMIM:210720)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090170" "05268" "00114688" "01533" "Unknown" "" "Mild intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090172" "00275" "00114690" "01533" "Unknown" "" "Mild intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090173" "00275" "00114691" "01533" "Unknown" "" "Mild intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090174" "05268" "00114692" "01533" "Unknown" "" "Mild intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090175" "00275" "00114693" "01533" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090177" "00275" "00114695" "01533" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090178" "05268" "00114696" "01533" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090179" "05268" "00114697" "01533" "Unknown" "" "intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090180" "00275" "00114698" "01533" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090181" "05268" "00114699" "01533" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090182" "00275" "00114700" "01533" "Unknown" "" "Severe intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090183" "00275" "00114701" "01533" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090184" "00275" "00114702" "01533" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233383" "00139" "00307960" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., Attention deficit hyperactivity disorder, Microcephaly, Autism, Sloping forehead, Brittle hair, Esotropia, Failure to thrive" "" "" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000249733" "05517" "00331541" "00000" "Familial, autosomal recessive" "" "Developmental regression, Failure to thrive, Short stature, Microcephaly, Delayed speech No" "" "" "" "" "" "" "" "" "" "" "Slender bone dysplasia group" "skeletal dysplasia" "" "0000254687" "05525" "00359446" "01709" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "MOPD" "" "0000269645" "00198" "00374435" "00006" "Familial, autosomal recessive" "" "Delayed motor development, obesity, global developmental delay, mild ID, microcephaly, hypertelorism, bilateral epicanthic fold, hirsutism, thick ear lobes, depressed nasal bridge and short neck with elevated total cholesterol, LDL and TSH levels" "" "" "" "" "" "" "" "" "" "" "" "microcephaly, intellectual disability" "" "0000283593" "00198" "00390054" "00006" "Familial, autosomal recessive" "8y" "Microcephaly, microsomia, dwarfism, mild-moderate intellectual disability, mild-moderate developmental delay, failure to thrive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000347851" "00126" "00114686" "00006" "Familial, autosomal recessive" "03y" "Normal skeletal survey. Receding forehead, high nasal bridge, prominent nose, retrognathia. 5th finger clinodactyly. Proportionate short stature. Motor delay; MRI thin corpus callosum, increased extra-axial spaces, reduced white matter; 46XY" "" "" "" "" "" "" "" "" "" "" "MOPD2" "Seckel syndrome" "" "0000347852" "00126" "00114687" "00006" "Familial, autosomal recessive" "13y" "Receding forehead, peaked prominent nose, microretrognathia. Short neck, low posterior hairline. Some areas of skin hyperpigmentation. Significant learning difficulties. Dysplastic hips, unequal femur length. Myopia. Short mid-phalanges. Diabetes Mellitus. 46XX." "" "" "" "" "" "" "" "" "" "" "MOPD2" "Seckel syndrome" "" "0000347853" "00126" "00114689" "00006" "Familial, autosomal recessive" "13y" "Prominent nose, small ears, receding forehead and chin. Short philtrum. Deep voice, small broken?? teeth. No abnormal pigmentation. Proportionate short stature. Normal skeletal survey with minor scoliosis. Slightly advanced bone age. 46XX. IQ 44. Growth Hormone levels normal" "" "" "" "" "" "" "" "" "" "" "MOPD2" "Seckel syndrome" "" "0000347854" "00126" "00114694" "00006" "Familial, autosomal recessive" "03y" "Sloping forehead, prominent nose, retrognathia. Normal skeletal xrays, though significantly retarded bone age. IQ 50. Normal MRI brain." "" "" "" "" "" "" "" "" "" "" "MOPD2" "Seckel syndrome" "" "0000347855" "00277" "00460130" "00006" "Familial, autosomal recessive" "12y6m" "see paper; ..., mild developmental delay; multiple aneurysms, Moyamoya disease" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347856" "00277" "00460131" "00006" "Familial, autosomal recessive" "12y6m" "see paper; ..., no developmental dealy; Moyamoya disease" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347857" "00277" "00460132" "00006" "Familial, autosomal recessive" "5y6m" "see paper; ..., mild developmental delay" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347858" "00277" "00460133" "00006" "Familial, autosomal recessive" "1y6m" "see paper; ..., mild developmental delay" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347859" "00277" "00460134" "00006" "Familial, autosomal recessive" "7y11m" "see paper; ..., mild developmental delay" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347860" "00277" "00460135" "00006" "Familial, autosomal recessive" "6y9m" "see paper; ..., severe developmental delay (normal until strokes); Moyamoya disease, multiple infarcts" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347861" "00277" "00460136" "00006" "Familial, autosomal recessive" "4y4m" "see paper; ..., moderate developmental delay; frontal atrophy" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347862" "00277" "00460137" "00006" "Familial, autosomal recessive" "5y2m" "see paper; ..., mild-moderate developmental dealy; ischemic lesion, stroke" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347863" "00277" "00460138" "00006" "Familial, autosomal recessive" "8y4m" "see paper; ..., mild developmental delay (VIQ78, PIQ53, FSIQ60); sub-arachnoid bleeding" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347864" "00277" "00460139" "00006" "Familial, autosomal recessive" "4m" "see paper; ..., mild developmental delay" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347865" "00277" "00460140" "00006" "Familial, autosomal recessive" "11y8m" "see paper; ..., mild developmental delay" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347866" "00277" "00460141" "00006" "Familial, autosomal recessive" "6y9m" "see paper; ..., mild developmental delay" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347867" "00277" "00460142" "00006" "Familial, autosomal recessive" "5y6m" "see paper; ..., mild developmental delay" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347868" "00277" "00460143" "00006" "Familial, autosomal recessive" "1y3m" "see paper; ..., mild developmental delay; Moyamoya disease, multiple infarcts" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347869" "00277" "00460144" "00006" "Familial, autosomal recessive" "6y6m" "see paper; ..., severe developmental delay; enlarged ventricles" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347870" "00277" "00460145" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., severe developmental delay; hydrocephalus" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347871" "00277" "00460146" "00006" "Familial, autosomal recessive" "3y9m" "see paper; ..., mild-moderate developmental dealy" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347872" "00277" "00460147" "00006" "Familial, autosomal recessive" "1y4m" "see paper; ..., mild developmental delay" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347873" "00277" "00460148" "00006" "Familial, autosomal recessive" "8y3m" "see paper; ..., borderline developmental delay (VIQ 81, PIQ 80, FSIQ 79)" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347874" "00277" "00460149" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., mild developmental delay (IQ60-65)" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347875" "00277" "00460150" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., no developmental dealy; Moyamoya disease, epilepsy" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347876" "00277" "00460151" "00006" "Familial, autosomal recessive" "2y7m" "see paper; ..., mild developmental delay" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347877" "00277" "00460152" "00006" "Familial, autosomal recessive" "2y9m" "see paper; ..., mild developmental delay; Moyamoya disease, ischemic lesion" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347878" "00277" "00460153" "00006" "Familial, autosomal recessive" "29y" "see paper; ..., no developmental dealy" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347879" "00277" "00460154" "00006" "Familial, autosomal recessive" "2y1m" "see paper; ..., mild developmental delay" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347880" "00277" "00460155" "00006" "Familial, autosomal recessive" "2y3m" "see paper; ..., mild developmental delay" "" "" "" "" "" "" "" "" "" "" "MOPD2" "primordial dwarfism" "" "0000347881" "05525" "00460156" "00006" "Familial, autosomal recessive" "" "see paper; ..., intra-uterine growth retardation, microcephaly, prominent nose/nasal bridge, small pinnae, short stature, cone-shaped and ivory-epiphyses, delayed bone age, slender long bones, abnormal pelvis; severe microdontia, opalescent teeth, abnormally shaped teeth, rootless molars, all teeth small, mandibular premolars unusually small/malformed, teeth loose, occlusal/incisal surfaces wore off very quickly" "" "" "" "" "" "" "" "" "" "" "MOPD2" "microcephalic osteodysplastic primordial dwarfism" "" "0000347882" "05525" "00460157" "00006" "Familial, autosomal recessive" "" "see paper; ..., IUGR, microcephaly, prominent nose/nasal bridge, small pinnae, short stature, cone-shaped ivory-epiphyses, delayed bone age, slender long bones, abnormal pelvis; severe microdontia; skin anomalies" "" "" "" "" "" "" "" "" "" "" "MOPD2" "microcephalic osteodysplastic primordial dwarfism" "" "0000347883" "00126" "00460158" "00006" "Familial, autosomal recessive" "03y" "see paper; ..., prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead, receded hairline, sparse scalp hair, beaked nose, mild retrognathia, hypotonia; 3y-paralyzed due to cerebrovascular malformation; X-ray 3y-high iliac wings, narrow ischia/pubis, overtubulated long bones, delta-shaped distal femoral metaphysis,marked widening" "" "" "" "" "" "" "" "" "" "" "MOPD2" "Seckel syndrome" "" "0000347884" "05525" "00460159" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "mopd2" "" "" "0000347885" "05525" "00460160" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "mopd2" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 65 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000003967" "00004045" "1" "00549" "00549" "2013-11-21 11:56:01" "00549" "2013-11-21 12:14:52" "PCR" "DNA" "" "" "0000081063" "00080951" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000115143" "00114686" "0" "01533" "01533" "2010-04-14 09:15:59" "00006" "2017-08-07 11:43:59" "SEQ" "DNA" "" "" "0000115144" "00114687" "0" "01533" "01533" "2010-04-14 09:23:17" "00006" "2010-12-08 17:36:21" "SEQ" "DNA" "" "" "0000115145" "00114688" "0" "01533" "00006" "2010-04-13 14:18:34" "00006" "2010-04-15 17:30:23" "SEQ" "DNA" "" "" "0000115146" "00114689" "0" "01533" "01533" "2010-04-14 09:30:34" "00006" "2010-12-08 17:37:06" "SEQ" "DNA" "" "" "0000115147" "00114690" "0" "01533" "00006" "2010-04-13 14:18:34" "00006" "2010-04-15 17:30:23" "SEQ" "DNA" "" "" "0000115148" "00114691" "0" "01533" "00006" "2010-04-13 14:18:34" "00006" "2010-04-15 17:30:23" "SEQ" "DNA" "" "" "0000115149" "00114692" "0" "01533" "00006" "2010-04-13 14:18:34" "00006" "2010-04-15 17:30:23" "SEQ" "DNA" "" "" "0000115150" "00114693" "0" "01533" "00006" "2010-04-13 14:18:34" "00006" "2010-04-15 17:30:23" "SEQ" "DNA" "" "" "0000115151" "00114694" "0" "01533" "01533" "2010-04-14 09:34:33" "00006" "2017-08-07 11:43:59" "SEQ" "DNA" "" "" "0000115152" "00114695" "0" "01533" "00006" "2010-04-13 14:18:34" "00006" "2010-04-15 17:30:23" "SEQ" "DNA" "" "" "0000115153" "00114696" "0" "01533" "00006" "2010-04-13 14:18:34" "00006" "2010-04-15 17:30:23" "SEQ" "DNA" "" "" "0000115154" "00114697" "0" "01533" "00006" "2010-04-13 14:18:34" "00006" "2010-04-15 17:30:23" "SEQ" "DNA" "" "" "0000115155" "00114698" "0" "01533" "00006" "2010-04-13 14:18:34" "00006" "2010-04-15 17:30:23" "SEQ" "DNA" "" "" "0000115156" "00114699" "0" "01533" "00006" "2010-04-13 14:18:34" "00006" "2010-04-15 17:30:23" "SEQ" "DNA" "" "" "0000115157" "00114700" "0" "01533" "00006" "2010-04-13 14:18:34" "00006" "2010-04-15 17:30:23" "SEQ" "DNA" "" "" "0000115158" "00114701" "0" "01533" "00006" "2010-04-13 14:18:34" "00006" "2010-04-15 17:30:23" "SEQ" "DNA" "" "" "0000115159" "00114702" "0" "01533" "00006" "2010-04-13 14:18:34" "00006" "2010-04-15 17:30:23" "SEQ" "DNA" "" "" "0000294218" "00293050" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294219" "00293051" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294220" "00293052" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294222" "00293054" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294223" "00293055" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294224" "00293056" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296621" "00295453" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306013" "00304884" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306014" "00304885" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306015" "00304886" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309104" "00307960" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000332760" "00331541" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360676" "00359446" "1" "01709" "00006" "2021-03-22 12:01:49" "" "" "SEQ" "DNA" "" "" "0000375629" "00374435" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000391295" "00390054" "1" "00006" "00006" "2021-11-09 16:34:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461760" "00460130" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461761" "00460131" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461762" "00460132" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461763" "00460133" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461764" "00460134" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461765" "00460135" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461766" "00460136" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461767" "00460137" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461768" "00460138" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461769" "00460139" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461770" "00460140" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461771" "00460141" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461772" "00460142" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461773" "00460143" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461774" "00460144" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461775" "00460145" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461776" "00460146" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461777" "00460147" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461778" "00460148" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461779" "00460149" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461780" "00460150" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461781" "00460151" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461782" "00460152" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461783" "00460153" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461784" "00460154" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461785" "00460155" "1" "00006" "00006" "2025-01-18 14:24:14" "" "" "SEQ" "DNA" "" "" "0000461786" "00460156" "1" "00006" "00006" "2025-01-18 14:44:01" "" "" "SEQ" "DNA" "" "" "0000461787" "00460157" "1" "00006" "00006" "2025-01-18 14:52:04" "" "" "SEQ" "DNA" "" "" "0000461788" "00460158" "1" "00006" "00006" "2025-01-18 15:09:10" "" "" "SEQ" "DNA" "" "" "0000461789" "00460159" "1" "00006" "00006" "2025-01-18 15:16:24" "00006" "2025-01-18 15:22:25" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000461790" "00460160" "1" "00006" "00006" "2025-01-18 15:16:24" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 53 "{{screeningid}}" "{{geneid}}" "0000003967" "PCNT" "0000081063" "PCNT" "0000115143" "PCNT" "0000115144" "PCNT" "0000115145" "PCNT" "0000115146" "PCNT" "0000115147" "PCNT" "0000115148" "PCNT" "0000115149" "PCNT" "0000115150" "PCNT" "0000115151" "PCNT" "0000115152" "PCNT" "0000115153" "PCNT" "0000115154" "PCNT" "0000115155" "PCNT" "0000115156" "PCNT" "0000115157" "PCNT" "0000115158" "PCNT" "0000115159" "PCNT" "0000309104" "PCNT" "0000332760" "PCNT" "0000375629" "PCNT" "0000461760" "PCNT" "0000461761" "PCNT" "0000461762" "PCNT" "0000461763" "PCNT" "0000461764" "PCNT" "0000461765" "PCNT" "0000461766" "PCNT" "0000461767" "PCNT" "0000461768" "PCNT" "0000461769" "PCNT" "0000461770" "PCNT" "0000461771" "PCNT" "0000461772" "PCNT" "0000461773" "PCNT" "0000461774" "PCNT" "0000461775" "PCNT" "0000461776" "PCNT" "0000461777" "PCNT" "0000461778" "PCNT" "0000461779" "PCNT" "0000461780" "PCNT" "0000461781" "PCNT" "0000461782" "PCNT" "0000461783" "PCNT" "0000461784" "PCNT" "0000461785" "PCNT" "0000461786" "PCNT" "0000461787" "PCNT" "0000461788" "PCNT" "0000461789" "PCNT" "0000461790" "PCNT" ## 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 = 532 "{{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}}" "0000022844" "3" "95" "21" "47746432" "47746432" "subst" "0" "00549" "PCNT_000017" "g.47746432G>T" "" "{PMID:Shaheen 2014:24389050}, {DOI:Shaheen 2014:10.1101/gr.160572.113}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46326518G>T" "" "pathogenic" "" "0000130149" "3" "90" "21" "47766060" "47766060" "subst" "0" "01758" "PCNT_000014" "g.47766060G>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.46346146G>T" "" "pathogenic" "ACMG" "0000184485" "3" "95" "21" "47766060" "47766060" "subst" "0" "01533" "PCNT_000014" "g.47766060G>T" "" "{PMID:Elen Griffith 2008:18157127}" "" "" "" "Unknown" "" "" "0" "" "" "g.46346146G>T" "" "pathogenic" "" "0000184486" "3" "95" "21" "47766060" "47766060" "subst" "0" "01533" "PCNT_000014" "g.47766060G>T" "" "{PMID:Elen Griffith 2008:18157127}" "" "" "" "Unknown" "" "" "0" "" "" "g.46346146G>T" "" "pathogenic" "" "0000184487" "3" "95" "21" "47773974" "47773974" "subst" "4.06227E-6" "01533" "PCNT_000001" "g.47773974C>T" "" "{PMID:Willems 2010:19643772}" "Tsp45I+;Bpu10I-" "" "" "Unknown" "" "" "0" "" "" "g.46354060C>T" "" "pathogenic" "" "0000184488" "3" "95" "21" "47775492" "47775492" "del" "0" "01533" "PCNT_000015" "g.47775492del" "" "{PMID:Elen Griffith 2008:18157127}" "" "" "" "Unknown" "" "" "0" "" "" "g.46355577del" "" "pathogenic" "" "0000184489" "3" "95" "21" "47783566" "47783567" "del" "0" "01533" "PCNT_000002" "g.47783566_47783567del" "" "{PMID:Willems 2010:19643772}" "" "2326_2327delGA" "" "Unknown" "" "" "0" "" "" "g.46363651_46363652del" "" "pathogenic" "" "0000184490" "3" "95" "21" "47786998" "47786998" "subst" "0" "01533" "PCNT_000003" "g.47786998G>T" "" "{PMID:Willems 2010:19643772}" "DdeI+" "Glu1037X" "" "Unknown" "" "" "0" "" "" "g.46367083G>T" "" "pathogenic" "" "0000184491" "3" "95" "21" "47801714" "47801715" "del" "0" "01533" "PCNT_000004" "g.47801714_47801715del" "" "{PMID:Willems 2010:19643772}" "" "3271_3272delTT (Leu1091Valfs*101)" "" "Unknown" "" "" "0" "" "" "g.46381799_46381800del" "" "pathogenic" "" "0000184492" "3" "95" "21" "47805816" "47805816" "subst" "0" "01533" "PCNT_000005" "g.47805816C>G" "" "{PMID:Willems 2010:19643772}" "" "" "" "Unknown" "" "" "0" "" "" "g.46385901C>G" "" "pathogenic" "" "0000184493" "3" "95" "21" "47808760" "47808760" "dup" "0" "01533" "PCNT_000016" "g.47808760dup" "" "{PMID:Elen Griffith 2008:18157127}" "" "3568_3569insT" "" "Unknown" "" "" "0" "" "" "g.46388845dup" "" "pathogenic" "" "0000184494" "3" "55" "21" "47809112" "47809112" "subst" "0" "01533" "PCNT_000012" "g.47809112A>G" "" "{PMID:Willems 2010:19643772}" "NlaIV+;AluI-" "" "probably affecting splicing" "Unknown" "" "" "0" "" "" "g.46389197A>G" "" "VUS" "" "0000184495" "3" "90" "21" "47809346" "47809346" "subst" "0" "01533" "PCNT_000006" "g.47809346G>C" "" "{PMID:Willems 2010:19643772}" "BsaAI+;HphI-" "" "" "Germline" "" "" "0" "" "" "g.46389431G>C" "" "pathogenic (recessive)" "" "0000184496" "3" "95" "21" "47831253" "47831253" "dup" "0" "01533" "PCNT_000007" "g.47831253dup" "" "{PMID:Willems 2010:19643772}" "FatI-" "" "" "Unknown" "" "" "0" "" "" "g.46411339dup" "" "pathogenic" "" "0000184497" "3" "95" "21" "47831565" "47831565" "subst" "8.25137E-6" "01533" "PCNT_000008" "g.47831565G>T" "" "{PMID:Willems 2010:19643772}" "DdeI+;BstBI-" "" "" "Unknown" "" "" "0" "" "" "g.46411651G>T" "" "pathogenic" "" "0000184498" "3" "95" "21" "47836011" "47836024" "del" "0" "01533" "PCNT_000009" "g.47836011_47836024del" "" "{PMID:Willems 2010:19643772}" "TseI-" "6176_6189delGTCAGCTGCCGAAG" "" "Unknown" "" "" "0" "" "" "g.46416097_46416110del" "" "pathogenic" "" "0000184499" "3" "90" "21" "47836148" "47836158" "del" "0" "01533" "PCNT_000010" "g.47836148_47836158del" "" "{PMID:Willems 2010:19643772}" "MwoI+;Fnu4HI-" "6316_6325delGTTTGGAGAGCA" "GTTTGGAGAGCA first 2 nucleotides not in reference sequence" "Germline" "" "" "0" "" "" "g.46416234_46416244del" "" "pathogenic" "" "0000184500" "3" "95" "21" "47847553" "47847553" "subst" "0" "01533" "PCNT_000011" "g.47847553C>A" "" "{PMID:Willems 2010:19643772}" "Tsp45I+;Cac8I-" "" "" "Unknown" "" "" "0" "" "" "g.46427639C>A" "" "pathogenic" "" "0000184501" "3" "55" "21" "47856996" "47856996" "subst" "4.06964E-6" "01533" "PCNT_000013" "g.47856996T>C" "" "{PMID:Willems 2010:19643772}" "" "" "probably affecting splicing" "Unknown" "" "" "0" "" "" "g.46437083T>C" "" "VUS" "" "0000248002" "0" "10" "21" "47851753" "47851753" "subst" "0.626501" "02325" "PCNT_000359" "g.47851753A>G" "" "" "" "PCNT(NM_006031.5):c.8375A>G (p.Q2792R), PCNT(NM_006031.6):c.8375A>G (p.Q2792R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46431839A>G" "" "benign" "" "0000248004" "0" "10" "21" "47863757" "47863757" "subst" "0.224811" "02325" "PCNT_000388" "g.47863757A>C" "" "" "" "PCNT(NM_006031.5):c.9735A>C (p.R3245S), PCNT(NM_006031.6):c.9735A>C (p.R3245S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46443844A>C" "" "benign" "" "0000248058" "0" "30" "21" "47836216" "47836216" "subst" "0.0953017" "02325" "PCNT_000302" "g.47836216A>G" "" "" "" "PCNT(NM_006031.5):c.6384A>G (p.T2128=), PCNT(NM_006031.6):c.6384A>G (p.T2128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416302A>G" "" "likely benign" "" "0000248064" "0" "30" "21" "47855812" "47855812" "subst" "0.00757" "02325" "PCNT_000366" "g.47855812A>C" "" "" "" "PCNT(NM_001315529.1):c.8161-5A>C (p.?), PCNT(NM_006031.5):c.8752-5A>C, PCNT(NM_006031.6):c.8752-5A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46435899A>C" "" "likely benign" "" "0000253263" "0" "10" "21" "47851753" "47851753" "subst" "0.626501" "01943" "PCNT_000359" "g.47851753A>G" "" "" "" "PCNT(NM_006031.5):c.8375A>G (p.Q2792R), PCNT(NM_006031.6):c.8375A>G (p.Q2792R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46431839A>G" "" "benign" "" "0000253265" "0" "10" "21" "47863757" "47863757" "subst" "0.224811" "01943" "PCNT_000388" "g.47863757A>C" "" "" "" "PCNT(NM_006031.5):c.9735A>C (p.R3245S), PCNT(NM_006031.6):c.9735A>C (p.R3245S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46443844A>C" "" "benign" "" "0000253319" "0" "10" "21" "47836216" "47836216" "subst" "0.0953017" "01943" "PCNT_000302" "g.47836216A>G" "" "" "" "PCNT(NM_006031.5):c.6384A>G (p.T2128=), PCNT(NM_006031.6):c.6384A>G (p.T2128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416302A>G" "" "benign" "" "0000253325" "0" "10" "21" "47855812" "47855812" "subst" "0.00757" "01943" "PCNT_000366" "g.47855812A>C" "" "" "" "PCNT(NM_001315529.1):c.8161-5A>C (p.?), PCNT(NM_006031.5):c.8752-5A>C, PCNT(NM_006031.6):c.8752-5A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46435899A>C" "" "benign" "" "0000253504" "0" "10" "21" "47754541" "47754541" "subst" "0.0320809" "01943" "PCNT_000191" "g.47754541A>G" "" "" "" "PCNT(NM_006031.5):c.498A>G (p.P166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46334627A>G" "" "benign" "" "0000253545" "0" "10" "21" "47754510" "47754510" "subst" "0.00139965" "01943" "PCNT_000188" "g.47754510A>G" "" "" "" "PCNT(NM_006031.5):c.467A>G (p.H156R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46334596A>G" "" "benign" "" "0000253546" "0" "10" "21" "47836206" "47836206" "subst" "0.0952835" "01943" "PCNT_000301" "g.47836206A>C" "" "" "" "PCNT(NM_006031.5):c.6374A>C (p.H2125P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416292A>C" "" "benign" "" "0000253556" "0" "10" "21" "47821588" "47821588" "subst" "0.241845" "01943" "PCNT_000266" "g.47821588A>G" "" "" "" "PCNT(NM_006031.5):c.4915A>G (p.I1639V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46401674A>G" "" "benign" "" "0000253558" "0" "10" "21" "47754563" "47754563" "subst" "0.0321293" "01943" "PCNT_000195" "g.47754563A>G" "" "" "" "PCNT(NM_006031.5):c.520A>G (p.I174V, p.(Ile174Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46334649A>G" "" "benign" "" "0000253584" "0" "10" "21" "47838123" "47838123" "subst" "0.093751" "01943" "PCNT_000319" "g.47838123A>G" "" "" "" "PCNT(NM_006031.5):c.6927A>G (p.K2309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46418209A>G" "" "benign" "" "0000253639" "0" "10" "21" "47831509" "47831509" "subst" "0.132231" "01943" "PCNT_000271" "g.47831509A>G" "" "" "" "PCNT(NM_006031.5):c.5522A>G (p.N1841S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411595A>G" "" "benign" "" "0000253662" "0" "10" "21" "47841941" "47841941" "subst" "0.0953681" "01943" "PCNT_000325" "g.47841941A>G" "" "" "" "PCNT(NM_006031.5):c.7082A>G (p.Q2361R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46422027A>G" "" "benign" "" "0000253698" "0" "10" "21" "47855876" "47855876" "subst" "0.142983" "01943" "PCNT_000368" "g.47855876A>G" "" "" "" "PCNT(NM_006031.5):c.8811A>G (p.T2937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46435963A>G" "" "benign" "" "0000253705" "0" "10" "21" "47786524" "47786524" "subst" "0.197625" "01943" "PCNT_000229" "g.47786524A>G" "" "" "" "PCNT(NM_006031.5):c.2635A>G (p.T879A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46366609A>G" "" "benign" "" "0000254382" "0" "30" "21" "47775519" "47775519" "subst" "0" "01943" "PCNT_000213" "g.47775519A>C" "" "" "" "PCNT(NM_006031.5):c.1914A>C (p.E638D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46355604A>C" "" "likely benign" "" "0000254619" "0" "30" "21" "47776985" "47776985" "subst" "0.00173386" "01943" "PCNT_000216" "g.47776985A>G" "" "" "" "PCNT(NM_006031.5):c.2033A>G (p.K678R, p.(Lys678Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46357070A>G" "" "likely benign" "" "0000254717" "0" "30" "21" "47819594" "47819594" "subst" "0.000925843" "01943" "PCNT_000260" "g.47819594A>T" "" "" "" "PCNT(NM_006031.5):c.4675A>T (p.M1559L, p.(Met1559Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46399680A>T" "" "likely benign" "" "0000254744" "0" "30" "21" "47783548" "47783548" "subst" "4.06062E-6" "01943" "PCNT_000222" "g.47783548A>G" "" "" "" "PCNT(NM_006031.5):c.2308A>G (p.M770V, p.(Met770Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46363633A>G" "" "likely benign" "" "0000254904" "0" "30" "21" "47832836" "47832836" "subst" "0.00176505" "01943" "PCNT_000292" "g.47832836A>G" "" "" "" "PCNT(NM_006031.5):c.6080A>G (p.Q2027R, p.(Gln2027Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46412922A>G" "" "likely benign" "" "0000254996" "0" "30" "21" "47858248" "47858248" "subst" "0.0338748" "01943" "PCNT_000391" "g.47858248A>G" "" "" "" "PCNT(NM_006031.5):c.9271A>G (p.S3091G, p.(Ser3091Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46438335A>G" "" "likely benign" "" "0000255841" "0" "50" "21" "47775540" "47775540" "subst" "0" "01943" "PCNT_000214" "g.47775540A>G" "" "" "" "PCNT(NM_006031.5):c.1935A>G (p.Q645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46355625A>G" "" "VUS" "" "0000256544" "0" "10" "21" "47836448" "47836448" "subst" "0.0020349" "01943" "PCNT_000307" "g.47836448A>G" "" "" "" "PCNT(NM_006031.5):c.6616A>G (p.T2206A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416534A>G" "" "benign" "" "0000296805" "0" "30" "21" "47773080" "47773080" "subst" "0.000406293" "02325" "PCNT_000207" "g.47773080C>G" "" "" "" "PCNT(NM_006031.5):c.1519C>G (p.R507G), PCNT(NM_006031.6):c.1519C>G (p.R507G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46353166C>G" "" "likely benign" "" "0000296806" "0" "10" "21" "47773103" "47773103" "subst" "0.313543" "02325" "PCNT_000208" "g.47773103C>A" "" "" "" "PCNT(NM_006031.5):c.1542C>A (p.S514=), PCNT(NM_006031.6):c.1542C>A (p.S514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46353189C>A" "" "benign" "" "0000296807" "0" "10" "21" "47777063" "47777063" "subst" "0.854376" "02325" "PCNT_000219" "g.47777063G>A" "" "" "" "PCNT(NM_006031.5):c.2111G>A (p.G704E), PCNT(NM_006031.6):c.2111G>A (p.G704E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46357148G>A" "" "benign" "" "0000296808" "0" "10" "21" "47783796" "47783796" "subst" "0.853401" "02325" "PCNT_000226" "g.47783796T>C" "" "" "" "PCNT(NM_006031.5):c.2556T>C (p.A852=), PCNT(NM_006031.6):c.2556T>C (p.A852=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46363881T>C" "" "benign" "" "0000296809" "0" "10" "21" "47786494" "47786494" "subst" "0.755859" "02325" "PCNT_000228" "g.47786494C>T" "" "" "" "PCNT(NM_006031.5):c.2610-5C>T, PCNT(NM_006031.6):c.2610-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46366579C>T" "" "benign" "" "0000296810" "0" "10" "21" "47786817" "47786817" "subst" "0.851827" "02325" "PCNT_000233" "g.47786817C>G" "" "" "" "PCNT(NM_006031.5):c.2928C>G (p.L976=), PCNT(NM_006031.6):c.2928C>G (p.L976=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46366902C>G" "" "benign" "" "0000296811" "0" "10" "21" "47787002" "47787002" "subst" "0.85189" "02325" "PCNT_000235" "g.47787002T>C" "" "" "" "PCNT(NM_006031.5):c.3113T>C (p.V1038A), PCNT(NM_006031.6):c.3113T>C (p.V1038A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46367087T>C" "" "benign" "" "0000296812" "0" "10" "21" "47805773" "47805773" "subst" "0.0357331" "02325" "PCNT_000237" "g.47805773T>C" "" "" "" "PCNT(NM_006031.5):c.3339T>C (p.S1113=), PCNT(NM_006031.6):c.3339T>C (p.S1113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46385858T>C" "" "benign" "" "0000296813" "0" "30" "21" "47754449" "47754449" "subst" "2.52442E-5" "02325" "PCNT_000181" "g.47754449G>A" "" "" "" "PCNT(NM_006031.5):c.406G>A (p.G136S), PCNT(NM_006031.6):c.406G>A (p.G136S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46334535G>A" "" "likely benign" "" "0000296814" "0" "30" "21" "47817307" "47817307" "subst" "0.0033881" "02325" "PCNT_000254" "g.47817307C>G" "" "" "" "PCNT(NM_001315529.1):c.3991C>G (p.(Gln1331Glu)), PCNT(NM_006031.5):c.4345C>G (p.Q1449E), PCNT(NM_006031.6):c.4345C>G (p.Q1449E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46397393C>G" "" "likely benign" "" "0000296815" "0" "30" "21" "47754510" "47754548" "del" "0" "02325" "PCNT_000185" "g.47754510_47754548del" "" "" "" "PCNT(NM_001315529.1):c.113_151del (p.(His38_Gln50del)), PCNT(NM_006031.5):c.467_505del (p.H156_Q168del), PCNT(NM_006031.6):c.467_505del (p.H156_Q1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46334596_46334634del" "" "likely benign" "" "0000296817" "0" "30" "21" "47821552" "47821552" "subst" "4.87397E-5" "02325" "PCNT_000264" "g.47821552G>A" "" "" "" "PCNT(NM_006031.6):c.4879G>A (p.E1627K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46401638G>A" "" "likely benign" "" "0000296818" "0" "30" "21" "47754634" "47754634" "subst" "8.12255E-6" "02325" "PCNT_000197" "g.47754634C>G" "" "" "" "PCNT(NM_006031.6):c.591C>G (p.I197M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46334720C>G" "" "likely benign" "" "0000296819" "0" "30" "21" "47754666" "47754666" "subst" "0.000211156" "02325" "PCNT_000199" "g.47754666G>A" "" "" "" "PCNT(NM_006031.5):c.623G>A (p.(Arg208His)), PCNT(NM_006031.6):c.623G>A (p.R208H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46334752G>A" "" "likely benign" "" "0000296820" "0" "50" "21" "47836551" "47836551" "subst" "0" "02325" "PCNT_000309" "g.47836551C>G" "" "" "" "PCNT(NM_006031.6):c.6719C>G (p.P2240R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416637C>G" "" "VUS" "" "0000296821" "0" "10" "21" "47836653" "47836653" "subst" "0.268712" "02325" "PCNT_000313" "g.47836653C>T" "" "" "" "PCNT(NM_006031.5):c.6821C>T (p.P2274L), PCNT(NM_006031.6):c.6821C>T (p.P2274L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416739C>T" "" "benign" "" "0000296823" "0" "10" "21" "47766139" "47766139" "subst" "0.627896" "02325" "PCNT_000200" "g.47766139T>C" "" "" "" "PCNT(NM_006031.5):c.720+17T>C, PCNT(NM_006031.6):c.720+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46346225T>C" "" "benign" "" "0000296824" "0" "10" "21" "47766650" "47766650" "subst" "0.339229" "02325" "PCNT_000201" "g.47766650G>A" "" "" "" "PCNT(NM_006031.5):c.721-7G>A, PCNT(NM_006031.6):c.721-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46346736G>A" "" "benign" "" "0000296825" "0" "10" "21" "47850405" "47850405" "subst" "0.619422" "02325" "PCNT_000351" "g.47850405C>T" "" "" "" "PCNT(NM_006031.5):c.7914-16C>T, PCNT(NM_006031.6):c.7914-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46430491C>T" "" "benign" "" "0000296826" "0" "10" "21" "47850484" "47850484" "subst" "0.525467" "02325" "PCNT_000354" "g.47850484G>C" "" "" "" "PCNT(NM_006031.5):c.7977G>C (p.Q2659H), PCNT(NM_006031.6):c.7977G>C (p.Q2659H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46430570G>C" "" "benign" "" "0000298804" "0" "90" "21" "47783647" "47783647" "subst" "0" "02329" "PCNT_000223" "g.47783647C>T" "" "" "" "PCNT(NM_006031.6):c.2407C>T (p.Q803*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46363732C>T" "" "pathogenic" "" "0000300667" "0" "30" "21" "47852049" "47852049" "subst" "0.00706249" "02326" "PCNT_000363" "g.47852049G>A" "" "" "" "PCNT(NM_006031.5):c.8671G>A (p.A2891T, p.(Ala2891Thr)), PCNT(NM_006031.6):c.8671G>A (p.A2891T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46432135G>A" "" "likely benign" "" "0000305162" "0" "10" "21" "47744127" "47744127" "subst" "0.0440867" "01943" "PCNT_000175" "g.47744127G>T" "" "" "" "PCNT(NM_006031.5):c.-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46324213G>T" "" "benign" "" "0000305163" "0" "10" "21" "47773103" "47773103" "subst" "0.313543" "01943" "PCNT_000208" "g.47773103C>A" "" "" "" "PCNT(NM_006031.5):c.1542C>A (p.S514=), PCNT(NM_006031.6):c.1542C>A (p.S514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46353189C>A" "" "benign" "" "0000305164" "0" "30" "21" "47773151" "47773151" "subst" "5.27923E-5" "01943" "PCNT_000209" "g.47773151T>C" "" "" "" "PCNT(NM_006031.5):c.1590T>C (p.A530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46353237T>C" "" "likely benign" "" "0000305165" "0" "10" "21" "47773177" "47773177" "subst" "0.147654" "01943" "PCNT_000210" "g.47773177C>T" "" "" "" "PCNT(NM_006031.5):c.1616C>T (p.T539I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46353263C>T" "" "benign" "" "0000305166" "0" "30" "21" "47775389" "47775389" "subst" "0.000617931" "01943" "PCNT_000212" "g.47775389C>T" "" "" "" "PCNT(NM_006031.5):c.1784C>T (p.A595V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46355474C>T" "" "likely benign" "" "0000305167" "0" "30" "21" "47775559" "47775559" "subst" "5.75952E-5" "01943" "PCNT_000215" "g.47775559C>T" "" "" "" "PCNT(NM_006031.5):c.1936+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46355644C>T" "" "likely benign" "" "0000305168" "0" "50" "21" "47777014" "47777014" "subst" "5.27906E-5" "01943" "PCNT_000218" "g.47777014C>T" "" "" "" "PCNT(NM_006031.5):c.2062C>T (p.L688F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46357099C>T" "" "VUS" "" "0000305169" "0" "10" "21" "47777063" "47777063" "subst" "0.854376" "01943" "PCNT_000219" "g.47777063G>A" "" "" "" "PCNT(NM_006031.5):c.2111G>A (p.G704E), PCNT(NM_006031.6):c.2111G>A (p.G704E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46357148G>A" "" "benign" "" "0000305170" "0" "30" "21" "47783389" "47783389" "subst" "0" "01943" "PCNT_000220" "g.47783389C>T" "" "" "" "PCNT(NM_006031.5):c.2155-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46363474C>T" "" "likely benign" "" "0000305171" "0" "30" "21" "47783512" "47783512" "subst" "1.21824E-5" "01943" "PCNT_000221" "g.47783512G>A" "" "" "" "PCNT(NM_006031.5):c.2272G>A (p.E758K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46363597G>A" "" "likely benign" "" "0000305172" "0" "10" "21" "47783655" "47783655" "subst" "0.0492961" "01943" "PCNT_000224" "g.47783655C>G" "" "" "" "PCNT(NM_006031.5):c.2415C>G (p.A805=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46363740C>G" "" "benign" "" "0000305173" "0" "30" "21" "47746483" "47746483" "subst" "4.06217E-6" "01943" "PCNT_000178" "g.47746483G>C" "" "" "" "PCNT(NM_006031.5):c.247G>C (p.G83R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46326569G>C" "" "likely benign" "" "0000305174" "0" "10" "21" "47783796" "47783796" "subst" "0.853401" "01943" "PCNT_000226" "g.47783796T>C" "" "" "" "PCNT(NM_006031.5):c.2556T>C (p.A852=), PCNT(NM_006031.6):c.2556T>C (p.A852=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46363881T>C" "" "benign" "" "0000305175" "0" "10" "21" "47786494" "47786494" "subst" "0.755859" "01943" "PCNT_000228" "g.47786494C>T" "" "" "" "PCNT(NM_006031.5):c.2610-5C>T, PCNT(NM_006031.6):c.2610-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46366579C>T" "" "benign" "" "0000305176" "0" "50" "21" "47786722" "47786722" "subst" "0.000504981" "01943" "PCNT_000231" "g.47786722C>T" "" "" "" "PCNT(NM_001315529.1):c.2479C>T (p.(Arg827Cys)), PCNT(NM_001315529.2):c.2479C>T (p.R827C), PCNT(NM_006031.5):c.2833C>T (p.R945C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46366807C>T" "" "VUS" "" "0000305177" "0" "30" "21" "47786723" "47786723" "subst" "3.66449E-5" "01943" "PCNT_000232" "g.47786723G>A" "" "" "" "PCNT(NM_006031.5):c.2834G>A (p.R945H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46366808G>A" "" "likely benign" "" "0000305178" "0" "10" "21" "47786817" "47786817" "subst" "0.851827" "01943" "PCNT_000233" "g.47786817C>G" "" "" "" "PCNT(NM_006031.5):c.2928C>G (p.L976=), PCNT(NM_006031.6):c.2928C>G (p.L976=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46366902C>G" "" "benign" "" "0000305179" "0" "30" "21" "47786981" "47786981" "subst" "5.70776E-5" "01943" "PCNT_000234" "g.47786981G>A" "" "" "" "PCNT(NM_006031.5):c.3092G>A (p.R1031Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46367066G>A" "" "likely benign" "" "0000305180" "0" "10" "21" "47787002" "47787002" "subst" "0.85189" "01943" "PCNT_000235" "g.47787002T>C" "" "" "" "PCNT(NM_006031.5):c.3113T>C (p.V1038A), PCNT(NM_006031.6):c.3113T>C (p.V1038A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46367087T>C" "" "benign" "" "0000305181" "0" "30" "21" "47787033" "47787033" "subst" "0.000136688" "01943" "PCNT_000236" "g.47787033C>T" "" "" "" "PCNT(NM_006031.5):c.3144C>T (p.H1048=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46367118C>T" "" "likely benign" "" "0000305182" "0" "10" "21" "47805773" "47805773" "subst" "0.0357331" "01943" "PCNT_000237" "g.47805773T>C" "" "" "" "PCNT(NM_006031.5):c.3339T>C (p.S1113=), PCNT(NM_006031.6):c.3339T>C (p.S1113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46385858T>C" "" "benign" "" "0000305183" "0" "50" "21" "47805792" "47805792" "subst" "2.43635E-5" "01943" "PCNT_000238" "g.47805792C>T" "" "" "" "PCNT(NM_006031.5):c.3358C>T (p.R1120C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46385877C>T" "" "VUS" "" "0000305184" "0" "30" "21" "47805857" "47805857" "subst" "0.000142126" "01943" "PCNT_000239" "g.47805857C>T" "" "" "" "PCNT(NM_006031.5):c.3423C>T (p.L1141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46385942C>T" "" "likely benign" "" "0000305185" "0" "50" "21" "47805894" "47805894" "subst" "6.09622E-5" "01943" "PCNT_000240" "g.47805894G>A" "" "" "" "PCNT(NM_006031.5):c.3460G>A (p.E1154K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46385979G>A" "" "VUS" "" "0000305186" "0" "30" "21" "47808673" "47808673" "subst" "0.000170923" "01943" "PCNT_000241" "g.47808673G>A" "" "" "" "PCNT(NM_006031.5):c.3481G>A (p.A1161T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46388758G>A" "" "likely benign" "" "0000305187" "0" "10" "21" "47808679" "47808679" "subst" "0.148395" "01943" "PCNT_000242" "g.47808679C>T" "" "" "" "PCNT(NM_006031.5):c.3487C>T (p.R1163C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46388764C>T" "" "benign" "" "0000305188" "0" "10" "21" "47808772" "47808772" "subst" "0.0358494" "01943" "PCNT_000243" "g.47808772G>A" "" "" "" "PCNT(NM_006031.5):c.3580G>A (p.A1194T, p.(Ala1194Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46388857G>A" "" "benign" "" "0000305189" "0" "50" "21" "47809254" "47809254" "subst" "0.00239592" "01943" "PCNT_000244" "g.47809254C>T" "" "" "" "PCNT(NM_006031.5):c.3748C>T (p.R1250W, p.(Arg1250Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46389339C>T" "" "VUS" "" "0000305190" "0" "30" "21" "47809365" "47809365" "subst" "0.000320084" "01943" "PCNT_000245" "g.47809365G>C" "" "" "" "PCNT(NM_006031.5):c.3840+19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46389450G>C" "" "likely benign" "" "0000305191" "0" "30" "21" "47754449" "47754449" "subst" "2.52442E-5" "01943" "PCNT_000181" "g.47754449G>A" "" "" "" "PCNT(NM_006031.5):c.406G>A (p.G136S), PCNT(NM_006031.6):c.406G>A (p.G136S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46334535G>A" "" "likely benign" "" "0000305192" "0" "30" "21" "47811183" "47811183" "subst" "0" "01943" "PCNT_000246" "g.47811183C>T" "" "" "" "PCNT(NM_006031.5):c.4108C>T (p.R1370W, p.(Arg1370Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46391268C>T" "" "likely benign" "" "0000305193" "0" "30" "21" "47811215" "47811215" "subst" "0.000737368" "01943" "PCNT_000247" "g.47811215G>A" "" "" "" "PCNT(NM_006031.5):c.4140G>A (p.A1380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46391300G>A" "" "likely benign" "" "0000305194" "0" "30" "21" "47811230" "47811230" "subst" "0" "01943" "PCNT_000248" "g.47811230G>T" "" "" "" "PCNT(NM_006031.5):c.4155G>T (p.E1385D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46391315G>T" "" "likely benign" "" "0000305195" "0" "30" "21" "47811250" "47811250" "subst" "0.000569755" "01943" "PCNT_000249" "g.47811250G>A" "" "" "" "PCNT(NM_006031.5):c.4175G>A (p.R1392Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46391335G>A" "" "likely benign" "" "0000305196" "0" "10" "21" "47811272" "47811272" "subst" "0.337173" "01943" "PCNT_000250" "g.47811272C>T" "" "" "" "PCNT(NM_006031.5):c.4197C>T (p.D1399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46391357C>T" "" "benign" "" "0000305197" "0" "30" "21" "47811308" "47811308" "subst" "2.16269E-5" "01943" "PCNT_000251" "g.47811308G>C" "" "" "" "PCNT(NM_006031.5):c.4216+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46391393G>C" "" "likely benign" "" "0000305198" "0" "50" "21" "47817247" "47817247" "subst" "0.00386916" "01943" "PCNT_000252" "g.47817247C>T" "" "" "" "PCNT(NM_001315529.1):c.3931C>T (p.(Arg1311Cys)), PCNT(NM_006031.5):c.4285C>T (p.R1429C), PCNT(NM_006031.6):c.4285C>T (p.R1429C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46397333C>T" "" "VUS" "" "0000305199" "0" "30" "21" "47817307" "47817307" "subst" "0.0033881" "01943" "PCNT_000254" "g.47817307C>G" "" "" "" "PCNT(NM_001315529.1):c.3991C>G (p.(Gln1331Glu)), PCNT(NM_006031.5):c.4345C>G (p.Q1449E), PCNT(NM_006031.6):c.4345C>G (p.Q1449E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46397393C>G" "" "likely benign" "" "0000305200" "0" "30" "21" "47817314" "47817314" "subst" "0.00018687" "01943" "PCNT_000255" "g.47817314G>A" "" "" "" "PCNT(NM_006031.5):c.4352G>A (p.R1451H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46397400G>A" "" "likely benign" "" "0000305201" "0" "30" "21" "47818055" "47818055" "subst" "0.000305263" "01943" "PCNT_000256" "g.47818055G>A" "" "" "" "PCNT(NM_006031.5):c.4563+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46398141G>A" "" "likely benign" "" "0000305202" "0" "30" "21" "47818156" "47818156" "subst" "0.00219715" "01943" "PCNT_000257" "g.47818156C>G" "" "" "" "PCNT(NM_001315529.1):c.4217C>G (p.(Pro1406Arg)), PCNT(NM_006031.5):c.4571C>G (p.P1524R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46398242C>G" "" "likely benign" "" "0000305203" "0" "30" "21" "47818157" "47818157" "subst" "0.00198945" "01943" "PCNT_000258" "g.47818157G>A" "" "" "" "PCNT(NM_006031.5):c.4572G>A (p.P1524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46398243G>A" "" "likely benign" "" "0000305204" "0" "90" "21" "47819503" "47819503" "subst" "0" "01943" "PCNT_000259" "g.47819503G>A" "" "" "" "PCNT(NM_006031.5):c.4585-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46399589G>A" "" "pathogenic" "" "0000305205" "0" "30" "21" "47754510" "47754548" "del" "0" "01943" "PCNT_000185" "g.47754510_47754548del" "" "" "" "PCNT(NM_001315529.1):c.113_151del (p.(His38_Gln50del)), PCNT(NM_006031.5):c.467_505del (p.H156_Q168del), PCNT(NM_006031.6):c.467_505del (p.H156_Q1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46334596_46334634del" "" "likely benign" "" "0000305207" "0" "30" "21" "47819615" "47819615" "subst" "0" "01943" "PCNT_000261" "g.47819615C>A" "" "" "" "PCNT(NM_006031.5):c.4696C>A (p.R1566S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46399701C>A" "" "likely benign" "" "0000305208" "0" "30" "21" "47754514" "47754514" "subst" "0" "01943" "PCNT_000189" "g.47754514G>A" "" "" "" "PCNT(NM_006031.5):c.471G>A (p.G157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46334600G>A" "" "likely benign" "" "0000305209" "0" "10" "21" "47821583" "47821583" "subst" "0.00167795" "01943" "PCNT_000265" "g.47821583C>T" "" "" "" "PCNT(NM_001315529.1):c.4556C>T (p.(Pro1519Leu)), PCNT(NM_006031.5):c.4910C>T (p.P1637L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46401669C>T" "" "benign" "" "0000305210" "0" "10" "21" "47754549" "47754549" "subst" "0" "01943" "PCNT_000193" "g.47754549G>A" "" "" "" "PCNT(NM_006031.5):c.506G>A (p.R169H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46334635G>A" "" "benign" "" "0000305211" "0" "10" "21" "47831240" "47831240" "subst" "0.000710839" "01943" "PCNT_000268" "g.47831240C>G" "" "" "" "PCNT(NM_006031.5):c.5253C>G (p.H1751Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411326C>G" "" "benign" "" "0000305212" "0" "30" "21" "47744207" "47744207" "subst" "0" "01943" "PCNT_000177" "g.47744207G>A" "" "" "" "PCNT(NM_006031.5):c.54+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46324293G>A" "" "likely benign" "" "0000305213" "0" "10" "21" "47744202" "47744202" "subst" "0.0444337" "01943" "PCNT_000176" "g.47744202C>T" "" "" "" "PCNT(NM_006031.5):c.54+6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46324288C>T" "" "benign" "" "0000305214" "0" "50" "21" "47831479" "47831479" "subst" "7.87499E-5" "01943" "PCNT_000269" "g.47831479C>T" "" "" "" "PCNT(NM_006031.5):c.5492C>T (p.A1831V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411565C>T" "" "VUS" "" "0000305215" "0" "30" "21" "47831492" "47831492" "subst" "2.4717E-5" "01943" "PCNT_000270" "g.47831492G>A" "" "" "" "PCNT(NM_006031.5):c.5505G>A (p.L1835=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411578G>A" "" "likely benign" "" "0000305216" "0" "10" "21" "47831522" "47831522" "subst" "0.0315996" "01943" "PCNT_000272" "g.47831522G>A" "" "" "" "PCNT(NM_006031.5):c.5535G>A (p.R1845=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411608G>A" "" "benign" "" "0000305217" "0" "10" "21" "47831618" "47831618" "subst" "0.0945311" "01943" "PCNT_000273" "g.47831618C>T" "" "" "" "PCNT(NM_006031.5):c.5631C>T (p.I1877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411704C>T" "" "benign" "" "0000305218" "0" "10" "21" "47831621" "47831621" "subst" "0.0456727" "01943" "PCNT_000274" "g.47831621C>T" "" "" "" "PCNT(NM_006031.5):c.5634C>T (p.D1878=), PCNT(NM_006031.6):c.5634C>T (p.(Asp1878=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411707C>T" "" "benign" "" "0000305219" "0" "50" "21" "47831623" "47831623" "subst" "8.36113E-6" "01943" "PCNT_000275" "g.47831623C>G" "" "" "" "PCNT(NM_006031.5):c.5636C>G (p.A1879G, p.(Ala1879Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411709C>G" "" "VUS" "" "0000305220" "0" "30" "21" "47831642" "47831642" "subst" "0" "01943" "PCNT_000276" "g.47831642G>A" "" "" "" "PCNT(NM_006031.5):c.5655G>A (p.A1885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411728G>A" "" "likely benign" "" "0000305221" "0" "30" "21" "47831713" "47831713" "subst" "0.000218719" "01943" "PCNT_000277" "g.47831713C>T" "" "" "" "PCNT(NM_006031.5):c.5726C>T (p.P1909L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411799C>T" "" "likely benign" "" "0000305222" "0" "30" "21" "47831729" "47831729" "subst" "0.00384249" "01943" "PCNT_000280" "g.47831729G>A" "" "" "" "PCNT(NM_006031.5):c.5742G>A (p.A1914=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411815G>A" "" "likely benign" "" "0000305223" "0" "30" "21" "47831730" "47831730" "subst" "0.00121926" "01943" "PCNT_000281" "g.47831730G>A" "" "" "" "PCNT(NM_006031.5):c.5743G>A (p.A1915T, p.(Ala1915Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411816G>A" "" "likely benign" "" "0000305224" "0" "30" "21" "47831758" "47831758" "subst" "0.00601594" "01943" "PCNT_000282" "g.47831758C>T" "" "" "" "PCNT(NM_001315529.1):c.5417C>T (p.(Ala1806Val)), PCNT(NM_006031.5):c.5771C>T (p.A1924V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411844C>T" "" "likely benign" "" "0000305225" "0" "10" "21" "47831802" "47831802" "subst" "0.00215672" "01943" "PCNT_000284" "g.47831802C>T" "" "" "" "PCNT(NM_006031.5):c.5815C>T (p.R1939W, p.(Arg1939Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411888C>T" "" "benign" "" "0000305226" "0" "10" "21" "47831845" "47831845" "subst" "0.0442461" "01943" "PCNT_000285" "g.47831845G>A" "" "" "" "PCNT(NM_006031.5):c.5858G>A (p.R1953H, p.(Arg1953His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411931G>A" "" "benign" "" "0000305227" "0" "10" "21" "47831866" "47831866" "subst" "0.00515577" "01943" "PCNT_000286" "g.47831866G>A" "" "" "" "PCNT(NM_001315529.1):c.5525G>A (p.(Arg1842Gln)), PCNT(NM_006031.5):c.5879G>A (p.R1960Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411952G>A" "" "benign" "" "0000305228" "0" "30" "21" "47831925" "47831925" "subst" "3.02415E-5" "01943" "PCNT_000287" "g.47831925G>A" "" "" "" "PCNT(NM_006031.5):c.5938G>A (p.G1980S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46412011G>A" "" "likely benign" "" "0000305229" "0" "30" "21" "47831969" "47831969" "subst" "0.000664349" "01943" "PCNT_000288" "g.47831969C>G" "" "" "" "PCNT(NM_006031.5):c.5982C>G (p.V1994=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46412055C>G" "" "likely benign" "" "0000305230" "0" "10" "21" "47831994" "47831994" "subst" "3.5049E-5" "01943" "PCNT_000290" "g.47831994C>T" "" "" "" "PCNT(NM_006031.5):c.5994+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46412080C>T" "" "benign" "" "0000305231" "0" "30" "21" "47832809" "47832809" "subst" "0" "01943" "PCNT_000291" "g.47832809G>T" "" "" "" "PCNT(NM_006031.5):c.6053G>T (p.G2018V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46412895G>T" "" "likely benign" "" "0000305232" "0" "30" "21" "47832881" "47832881" "subst" "0.000470849" "01943" "PCNT_000293" "g.47832881G>A" "" "" "" "PCNT(NM_006031.5):c.6125G>A (p.R2042H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46412967G>A" "" "likely benign" "" "0000305233" "0" "50" "21" "47836027" "47836027" "subst" "0.000207103" "01943" "PCNT_000295" "g.47836027T>G" "" "" "" "PCNT(NM_006031.5):c.6195T>G (p.D2065E, p.(Asp2065Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416113T>G" "" "VUS" "" "0000305234" "0" "30" "21" "47836030" "47836030" "subst" "1.21832E-5" "01943" "PCNT_000296" "g.47836030C>T" "" "" "" "PCNT(NM_006031.5):c.6198C>T (p.L2066=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416116C>T" "" "likely benign" "" "0000305235" "0" "10" "21" "47836122" "47836122" "subst" "0.0953578" "01943" "PCNT_000298" "g.47836122T>C" "" "" "" "PCNT(NM_006031.5):c.6290T>C (p.L2097P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416208T>C" "" "benign" "" "0000305236" "0" "30" "21" "47836142" "47836142" "subst" "4.06062E-6" "01943" "PCNT_000300" "g.47836142C>T" "" "" "" "PCNT(NM_001315529.1):c.5956C>T (p.(His1986Tyr)), PCNT(NM_006031.5):c.6310C>T (p.H2104Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416228C>T" "" "likely benign" "" "0000305237" "0" "30" "21" "47836257" "47836257" "subst" "0.000150249" "01943" "PCNT_000303" "g.47836257T>C" "" "" "" "PCNT(NM_006031.5):c.6425T>C (p.I2142T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416343T>C" "" "likely benign" "" "0000305238" "0" "10" "21" "47836395" "47836395" "subst" "0.0954767" "01943" "PCNT_000304" "g.47836395T>G" "" "" "" "PCNT(NM_006031.5):c.6563T>G (p.M2188R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416481T>G" "" "benign" "" "0000305239" "0" "10" "21" "47836403" "47836403" "subst" "0.0366977" "01943" "PCNT_000305" "g.47836403T>C" "" "" "" "PCNT(NM_006031.5):c.6571T>C (p.S2191P, p.(Ser2191Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416489T>C" "" "benign" "" "0000305240" "0" "10" "21" "47836426" "47836426" "subst" "0.049486" "01943" "PCNT_000306" "g.47836426T>C" "" "" "" "PCNT(NM_006031.5):c.6594T>C (p.G2198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416512T>C" "" "benign" "" "0000305241" "0" "10" "21" "47836547" "47836547" "subst" "0.0968301" "01943" "PCNT_000308" "g.47836547T>C" "" "" "" "PCNT(NM_006031.5):c.6715T>C (p.W2239R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416633T>C" "" "benign" "" "0000305242" "0" "50" "21" "47836571" "47836571" "subst" "0.0118108" "01943" "PCNT_000310" "g.47836571C>T" "" "" "" "PCNT(NM_001315529.1):c.6385C>T (p.(His2129Tyr)), PCNT(NM_006031.5):c.6739C>T (p.H2247Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416657C>T" "" "VUS" "" "0000305243" "0" "30" "21" "47836575" "47836575" "subst" "5.01208E-5" "01943" "PCNT_000311" "g.47836575C>T" "" "" "" "PCNT(NM_006031.5):c.6743C>T (p.S2248L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416661C>T" "" "likely benign" "" "0000305244" "0" "50" "21" "47836652" "47836652" "subst" "8.68719E-6" "01943" "PCNT_000312" "g.47836652C>T" "" "" "" "PCNT(NM_006031.5):c.6820C>T (p.P2274S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416738C>T" "" "VUS" "" "0000305245" "0" "10" "21" "47836653" "47836653" "subst" "0.268712" "01943" "PCNT_000313" "g.47836653C>T" "" "" "" "PCNT(NM_006031.5):c.6821C>T (p.P2274L), PCNT(NM_006031.6):c.6821C>T (p.P2274L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416739C>T" "" "benign" "" "0000305246" "0" "30" "21" "47836654" "47836654" "subst" "0.00362877" "01943" "PCNT_000314" "g.47836654G>A" "" "" "" "PCNT(NM_006031.5):c.6822G>A (p.P2274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416740G>A" "" "likely benign" "" "0000305247" "0" "10" "21" "47836750" "47836750" "subst" "0.037716" "01943" "PCNT_000316" "g.47836750T>C" "" "" "" "PCNT(NM_006031.5):c.6918T>C (p.A2306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416836T>C" "" "benign" "" "0000305250" "0" "10" "21" "47841933" "47841933" "subst" "0.0460251" "01943" "PCNT_000324" "g.47841933T>C" "" "" "" "PCNT(NM_006031.5):c.7074T>C (p.P2358=), PCNT(NM_006031.6):c.7074T>C (p.(Pro2358=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46422019T>C" "" "benign" "" "0000305251" "0" "10" "21" "47841989" "47841989" "subst" "0.0431561" "01943" "PCNT_000326" "g.47841989C>T" "" "" "" "PCNT(NM_006031.5):c.7130C>T (p.P2377L, p.(Pro2377Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46422075C>T" "" "benign" "" "0000305252" "0" "10" "21" "47842018" "47842018" "subst" "0.00173549" "01943" "PCNT_000327" "g.47842018G>A" "" "" "" "PCNT(NM_001315529.1):c.6805G>A (p.(Val2269Met)), PCNT(NM_006031.5):c.7159G>A (p.V2387M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46422104G>A" "" "benign" "" "0000305253" "0" "10" "21" "47766139" "47766139" "subst" "0.627896" "01943" "PCNT_000200" "g.47766139T>C" "" "" "" "PCNT(NM_006031.5):c.720+17T>C, PCNT(NM_006031.6):c.720+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46346225T>C" "" "benign" "" "0000305254" "0" "10" "21" "47766650" "47766650" "subst" "0.339229" "01943" "PCNT_000201" "g.47766650G>A" "" "" "" "PCNT(NM_006031.5):c.721-7G>A, PCNT(NM_006031.6):c.721-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46346736G>A" "" "benign" "" "0000305255" "0" "50" "21" "47766660" "47766660" "subst" "0.000320166" "01943" "PCNT_000202" "g.47766660G>A" "" "" "" "PCNT(NM_006031.5):c.724G>A (p.V242M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46346746G>A" "" "VUS" "" "0000305256" "0" "30" "21" "47847547" "47847547" "subst" "0.000463061" "01943" "PCNT_000330" "g.47847547C>T" "" "" "" "PCNT(NM_006031.5):c.7332C>T (p.T2444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46427633C>T" "" "likely benign" "" "0000305257" "0" "30" "21" "47847552" "47847552" "subst" "0" "01943" "PCNT_000331" "g.47847552G>T" "" "" "" "PCNT(NM_006031.5):c.7337G>T (p.C2446F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46427638G>T" "" "likely benign" "" "0000305258" "0" "10" "21" "47847568" "47847568" "subst" "0.00200645" "01943" "PCNT_000332" "g.47847568G>A" "" "" "" "PCNT(NM_006031.5):c.7353G>A (p.G2451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46427654G>A" "" "benign" "" "0000305259" "0" "10" "21" "47847619" "47847619" "subst" "0.00174263" "01943" "PCNT_000333" "g.47847619G>C" "" "" "" "PCNT(NM_001315529.1):c.7050G>C (p.(Gln2350His)), PCNT(NM_006031.5):c.7404G>C (p.Q2468H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46427705G>C" "" "benign" "" "0000305260" "0" "10" "21" "47847700" "47847700" "subst" "0.0431764" "01943" "PCNT_000334" "g.47847700C>T" "" "" "" "PCNT(NM_006031.5):c.7485C>T (p.I2495=), PCNT(NM_006031.6):c.7485C>T (p.(Ile2495=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46427786C>T" "" "benign" "" "0000305261" "0" "30" "21" "47848299" "47848299" "subst" "4.14989E-6" "01943" "PCNT_000335" "g.47848299G>A" "" "" "" "PCNT(NM_006031.5):c.7495-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46428385G>A" "" "likely benign" "" "0000305262" "0" "10" "21" "47848350" "47848350" "subst" "0.0459278" "01943" "PCNT_000336" "g.47848350G>A" "" "" "" "PCNT(NM_006031.5):c.7536G>A (p.P2512=), PCNT(NM_006031.6):c.7536G>A (p.(Pro2512=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46428436G>A" "" "benign" "" "0000305263" "0" "30" "21" "47848446" "47848446" "subst" "9.25388E-5" "01943" "PCNT_000337" "g.47848446G>A" "" "" "" "PCNT(NM_006031.5):c.7632G>A (p.T2544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46428532G>A" "" "likely benign" "" "0000305264" "0" "50" "21" "47848448" "47848448" "subst" "4.65589E-5" "01943" "PCNT_000338" "g.47848448C>T" "" "" "" "PCNT(NM_006031.5):c.7634C>T (p.A2545V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46428534C>T" "" "VUS" "" "0000305265" "0" "10" "21" "47848459" "47848459" "subst" "0.09502" "01943" "PCNT_000339" "g.47848459G>A" "" "" "" "PCNT(NM_006031.5):c.7645G>A (p.A2549T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46428545G>A" "" "benign" "" "0000305266" "0" "30" "21" "47848466" "47848466" "subst" "0.0140774" "01943" "PCNT_000340" "g.47848466C>T" "" "" "" "PCNT(NM_001315529.1):c.7298C>T (p.(Ala2433Val)), PCNT(NM_006031.5):c.7652C>T (p.A2551V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46428552C>T" "" "likely benign" "" "0000305267" "0" "30" "21" "47848469" "47848469" "subst" "0.00019119" "01943" "PCNT_000341" "g.47848469G>A" "" "" "" "PCNT(NM_006031.5):c.7655G>A (p.R2552H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46428555G>A" "" "likely benign" "" "0000305268" "0" "30" "21" "47848470" "47848470" "subst" "0.00305058" "01943" "PCNT_000342" "g.47848470C>T" "" "" "" "PCNT(NM_006031.5):c.7656C>T (p.R2552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46428556C>T" "" "likely benign" "" "0000305269" "0" "10" "21" "47850033" "47850033" "subst" "0.013742" "01943" "PCNT_000345" "g.47850033G>A" "" "" "" "PCNT(NM_006031.5):c.7800G>A (p.A2600=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46430119G>A" "" "benign" "" "0000305270" "0" "30" "21" "47850036" "47850036" "subst" "0.00151468" "01943" "PCNT_000346" "g.47850036G>A" "" "" "" "PCNT(NM_006031.5):c.7803G>A (p.A2601=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46430122G>A" "" "likely benign" "" "0000305271" "0" "50" "21" "47850083" "47850083" "subst" "2.43675E-5" "01943" "PCNT_000347" "g.47850083G>A" "" "" "" "PCNT(NM_006031.5):c.7850G>A (p.R2617K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46430169G>A" "" "VUS" "" "0000305272" "0" "10" "21" "47850100" "47850100" "subst" "0.00513881" "01943" "PCNT_000348" "g.47850100C>T" "" "" "" "PCNT(NM_006031.5):c.7867C>T (p.L2623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46430186C>T" "" "benign" "" "0000305273" "0" "10" "21" "47850107" "47850107" "subst" "0.0154293" "01943" "PCNT_000349" "g.47850107G>A" "" "" "" "PCNT(NM_006031.5):c.7874G>A (p.R2625Q, p.(Arg2625Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46430193G>A" "" "benign" "" "0000305274" "0" "10" "21" "47850155" "47850155" "subst" "0.0953697" "01943" "PCNT_000350" "g.47850155G>C" "" "" "" "PCNT(NM_006031.5):c.7913+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46430241G>C" "" "benign" "" "0000305275" "0" "10" "21" "47850405" "47850405" "subst" "0.619422" "01943" "PCNT_000351" "g.47850405C>T" "" "" "" "PCNT(NM_006031.5):c.7914-16C>T, PCNT(NM_006031.6):c.7914-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46430491C>T" "" "benign" "" "0000305276" "0" "10" "21" "47850417" "47850417" "subst" "0.00132802" "01943" "PCNT_000352" "g.47850417G>A" "" "" "" "PCNT(NM_001315529.1):c.7560-4G>A (p.?), PCNT(NM_006031.5):c.7914-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46430503G>A" "" "benign" "" "0000305277" "0" "50" "21" "47850422" "47850422" "subst" "0" "01943" "PCNT_000353" "g.47850422T>G" "" "" "" "PCNT(NM_006031.5):c.7915T>G (p.S2639A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46430508T>G" "" "VUS" "" "0000305278" "0" "10" "21" "47850484" "47850484" "subst" "0.525467" "01943" "PCNT_000354" "g.47850484G>C" "" "" "" "PCNT(NM_006031.5):c.7977G>C (p.Q2659H), PCNT(NM_006031.6):c.7977G>C (p.Q2659H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46430570G>C" "" "benign" "" "0000305279" "0" "30" "21" "47850493" "47850493" "subst" "0" "01943" "PCNT_000355" "g.47850493G>T" "" "" "" "PCNT(NM_006031.5):c.7986G>T (p.G2662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46430579G>T" "" "likely benign" "" "0000305280" "0" "10" "21" "47851424" "47851424" "subst" "0.00693058" "01943" "PCNT_000356" "g.47851424G>A" "" "" "" "PCNT(NM_006031.5):c.8065-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46431510G>A" "" "benign" "" "0000305281" "0" "30" "21" "47851470" "47851470" "subst" "0" "01943" "PCNT_000357" "g.47851470C>T" "" "" "" "PCNT(NM_006031.5):c.8092C>T (p.R2698C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46431556C>T" "" "likely benign" "" "0000305282" "0" "10" "21" "47851636" "47851636" "subst" "0.046176" "01943" "PCNT_000358" "g.47851636G>A" "" "" "" "PCNT(NM_006031.5):c.8258G>A (p.R2753H, p.(Arg2753His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46431722G>A" "" "benign" "" "0000305283" "0" "10" "21" "47851796" "47851796" "subst" "0.142275" "01943" "PCNT_000362" "g.47851796G>A" "" "" "" "PCNT(NM_006031.5):c.8418G>A (p.A2806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46431882G>A" "" "benign" "" "0000305284" "0" "30" "21" "47852049" "47852049" "subst" "0.00706249" "01943" "PCNT_000363" "g.47852049G>A" "" "" "" "PCNT(NM_006031.5):c.8671G>A (p.A2891T, p.(Ala2891Thr)), PCNT(NM_006031.6):c.8671G>A (p.A2891T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46432135G>A" "" "likely benign" "" "0000305285" "0" "30" "21" "47852080" "47852080" "subst" "0.000361269" "01943" "PCNT_000364" "g.47852080C>T" "" "" "" "PCNT(NM_006031.5):c.8702C>T (p.P2901L, p.(Pro2901Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46432166C>T" "" "likely benign" "" "0000305286" "0" "10" "21" "47852085" "47852085" "subst" "0.0612123" "01943" "PCNT_000365" "g.47852085G>A" "" "" "" "PCNT(NM_006031.5):c.8707G>A (p.A2903T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46432171G>A" "" "benign" "" "0000305287" "0" "10" "21" "47855960" "47855960" "subst" "0.00222942" "01943" "PCNT_000370" "g.47855960G>A" "" "" "" "PCNT(NM_006031.5):c.8895G>A (p.A2965=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46436047G>A" "" "benign" "" "0000305288" "0" "10" "21" "47856909" "47856909" "subst" "0.00478801" "01943" "PCNT_000372" "g.47856909C>T" "" "" "" "PCNT(NM_001315529.1):c.8423C>T (p.(Thr2808Met)), PCNT(NM_006031.5):c.9014C>T (p.T3005M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46436996C>T" "" "benign" "" "0000305289" "0" "30" "21" "47766840" "47766840" "subst" "0.00140775" "01943" "PCNT_000204" "g.47766840G>A" "" "" "" "PCNT(NM_006031.5):c.904G>A (p.E302K, p.(Glu302Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46346926G>A" "" "likely benign" "" "0000305290" "0" "50" "21" "47856948" "47856948" "subst" "3.24921E-5" "01943" "PCNT_000373" "g.47856948C>T" "" "" "" "PCNT(NM_006031.5):c.9053C>T (p.T3018M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46437035C>T" "" "VUS" "" "0000305291" "0" "10" "21" "47857006" "47857006" "subst" "0.0011112" "01943" "PCNT_000375" "g.47857006G>A" "" "" "" "PCNT(NM_006031.5):c.9099+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46437093G>A" "" "benign" "" "0000305292" "0" "30" "21" "47857008" "47857008" "subst" "0.000249898" "01943" "PCNT_000376" "g.47857008G>A" "" "" "" "PCNT(NM_006031.5):c.9099+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46437095G>A" "" "likely benign" "" "0000305293" "0" "10" "21" "47858272" "47858272" "subst" "0.306598" "01943" "PCNT_000378" "g.47858272T>C" "" "" "" "PCNT(NM_006031.5):c.9273+22T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46438359T>C" "" "benign" "" "0000305294" "0" "30" "21" "47859993" "47859993" "subst" "0.00605982" "01943" "PCNT_000379" "g.47859993C>T" "" "" "" "PCNT(NM_001315529.1):c.8683-3C>T (p.?), PCNT(NM_006031.5):c.9274-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46440080C>T" "" "likely benign" "" "0000305295" "0" "30" "21" "47860007" "47860007" "subst" "8.12876E-6" "01943" "PCNT_000380" "g.47860007G>A" "" "" "" "PCNT(NM_006031.5):c.9285G>A (p.R3095=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46440094G>A" "" "likely benign" "" "0000305296" "0" "50" "21" "47860054" "47860054" "subst" "0.00019512" "01943" "PCNT_000382" "g.47860054G>A" "" "" "" "PCNT(NM_006031.5):c.9332G>A (p.R3111H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46440141G>A" "" "VUS" "" "0000305297" "0" "50" "21" "47766871" "47766871" "subst" "0" "01943" "PCNT_000205" "g.47766871G>A" "" "" "" "PCNT(NM_006031.5):c.935G>A (p.R312Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46346957G>A" "" "VUS" "" "0000305298" "0" "30" "21" "47860089" "47860089" "subst" "1.62664E-5" "01943" "PCNT_000383" "g.47860089G>A" "" "" "" "PCNT(NM_006031.5):c.9367G>A (p.E3123K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46440176G>A" "" "likely benign" "" "0000305299" "0" "10" "21" "47860764" "47860764" "subst" "0.123939" "01943" "PCNT_000384" "g.47860764T>C" "" "" "" "PCNT(NM_006031.5):c.9394-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46440851T>C" "" "benign" "" "0000305300" "0" "50" "21" "47860783" "47860783" "subst" "0" "01943" "PCNT_000385" "g.47860783C>G" "" "" "" "PCNT(NM_006031.5):c.9409C>G (p.L3137V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46440870C>G" "" "VUS" "" "0000305301" "0" "30" "21" "47863729" "47863729" "subst" "0.00217891" "01943" "PCNT_000386" "g.47863729G>A" "" "" "" "PCNT(NM_006031.5):c.9707G>A (p.R3236Q, p.(Arg3236Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46443816G>A" "" "likely benign" "" "0000305302" "0" "10" "21" "47863742" "47863742" "subst" "0.000678602" "01943" "PCNT_000387" "g.47863742G>A" "" "" "" "PCNT(NM_006031.5):c.9720G>A (p.P3240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46443829G>A" "" "benign" "" "0000305303" "0" "30" "21" "47863781" "47863781" "subst" "8.13345E-6" "01943" "PCNT_000389" "g.47863781G>T" "" "" "" "PCNT(NM_006031.5):c.9759G>T (p.R3253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46443868G>T" "" "likely benign" "" "0000305304" "0" "10" "21" "47864752" "47864752" "subst" "0.000182784" "01943" "PCNT_000390" "g.47864752C>T" "" "" "" "PCNT(NM_006031.5):c.9967+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46444839C>T" "" "benign" "" "0000328770" "0" "30" "21" "47742583" "47742583" "subst" "0" "01804" "C21orf58_000002" "g.47742583A>T" "" "" "" "C21orf58(NM_058180.3):c.70T>A (p.(Ser24Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46322669A>T" "" "likely benign" "" "0000328771" "0" "50" "21" "47742628" "47742628" "subst" "7.32898E-5" "01804" "C21orf58_000003" "g.47742628T>C" "" "" "" "C21orf58(NM_058180.3):c.25A>G (p.(Thr9Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46322714T>C" "" "VUS" "" "0000328774" "0" "50" "21" "47754471" "47754509" "del" "0" "01804" "PCNT_000182" "g.47754471_47754509del" "" "" "" "PCNT(NM_006031.5):c.407_445del (p.(His138_Asp150del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46334557_46334595del" "" "VUS" "" "0000328775" "0" "30" "21" "47754510" "47754548" "dup" "0" "01804" "PCNT_000184" "g.47754510_47754548dup" "" "" "" "PCNT(NM_001315529.1):c.113_151dup (p.(His38_Gln50dup)), PCNT(NM_006031.5):c.467_505dup (p.H156_Q168dup), PCNT(NM_006031.6):c.467_505dup (p.H156_Q1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46334596_46334634dup" "" "likely benign" "" "0000328777" "0" "30" "21" "47754510" "47754548" "del" "0" "01804" "PCNT_000185" "g.47754510_47754548del" "" "" "" "PCNT(NM_001315529.1):c.113_151del (p.(His38_Gln50del)), PCNT(NM_006031.5):c.467_505del (p.H156_Q168del), PCNT(NM_006031.6):c.467_505del (p.H156_Q1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46334596_46334634del" "" "likely benign" "" "0000328778" "0" "50" "21" "47754488" "47754488" "subst" "4.07727E-5" "01804" "PCNT_000186" "g.47754488A>G" "" "" "" "PCNT(NM_006031.5):c.445A>G (p.(Ser149Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46334574A>G" "" "VUS" "" "0000328779" "0" "50" "21" "47754524" "47754524" "subst" "4.08941E-6" "01804" "PCNT_000190" "g.47754524G>A" "" "" "" "PCNT(NM_006031.5):c.481G>A (p.(Val161Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46334610G>A" "" "VUS" "" "0000328781" "0" "50" "21" "47754560" "47754560" "subst" "6.90355E-5" "01804" "PCNT_000194" "g.47754560A>G" "" "" "" "PCNT(NM_006031.5):c.517A>G (p.(Thr173Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46334646A>G" "" "VUS" "" "0000328782" "0" "30" "21" "47754576" "47754576" "subst" "4.06388E-6" "01804" "PCNT_000196" "g.47754576A>C" "" "" "" "PCNT(NM_001315529.1):c.179A>C (p.(Gln60Pro)), PCNT(NM_006031.6):c.533A>C (p.Q178P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46334662A>C" "" "likely benign" "" "0000328784" "0" "50" "21" "47766760" "47766760" "subst" "0" "01804" "PCNT_000203" "g.47766760C>T" "" "" "" "PCNT(NM_006031.5):c.824C>T (p.(Thr275Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46346846C>T" "" "VUS" "" "0000328785" "0" "30" "21" "47766840" "47766840" "subst" "0.00140775" "01804" "PCNT_000204" "g.47766840G>A" "" "" "" "PCNT(NM_006031.5):c.904G>A (p.E302K, p.(Glu302Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46346926G>A" "" "likely benign" "" "0000328788" "0" "50" "21" "47777009" "47777009" "subst" "2.84248E-5" "01804" "PCNT_000217" "g.47777009C>A" "" "" "" "PCNT(NM_006031.5):c.2057C>A (p.(Thr686Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46357094C>A" "" "VUS" "" "0000328789" "0" "30" "21" "47783548" "47783548" "subst" "4.06062E-6" "01804" "PCNT_000222" "g.47783548A>G" "" "" "" "PCNT(NM_006031.5):c.2308A>G (p.M770V, p.(Met770Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46363633A>G" "" "likely benign" "" "0000328791" "0" "30" "21" "47786491" "47786491" "subst" "0.000617648" "01804" "PCNT_000227" "g.47786491T>C" "" "" "" "PCNT(NM_001315529.1):c.2256-8T>C (p.(=)), PCNT(NM_006031.5):c.2610-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46366576T>C" "" "likely benign" "" "0000328793" "0" "30" "21" "47809254" "47809254" "subst" "0.00239592" "01804" "PCNT_000244" "g.47809254C>T" "" "" "" "PCNT(NM_006031.5):c.3748C>T (p.R1250W, p.(Arg1250Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46389339C>T" "" "likely benign" "" "0000328794" "0" "50" "21" "47817263" "47817263" "subst" "0" "01804" "PCNT_000253" "g.47817263C>T" "" "" "" "PCNT(NM_006031.5):c.4301C>T (p.(Ser1434Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46397349C>T" "" "VUS" "" "0000328795" "0" "30" "21" "47817307" "47817307" "subst" "0.0033881" "01804" "PCNT_000254" "g.47817307C>G" "" "" "" "PCNT(NM_001315529.1):c.3991C>G (p.(Gln1331Glu)), PCNT(NM_006031.5):c.4345C>G (p.Q1449E), PCNT(NM_006031.6):c.4345C>G (p.Q1449E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46397393C>G" "" "likely benign" "" "0000328797" "0" "30" "21" "47818156" "47818156" "subst" "0.00219715" "01804" "PCNT_000257" "g.47818156C>G" "" "" "" "PCNT(NM_001315529.1):c.4217C>G (p.(Pro1406Arg)), PCNT(NM_006031.5):c.4571C>G (p.P1524R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46398242C>G" "" "likely benign" "" "0000328800" "0" "30" "21" "47821583" "47821583" "subst" "0.00167795" "01804" "PCNT_000265" "g.47821583C>T" "" "" "" "PCNT(NM_001315529.1):c.4556C>T (p.(Pro1519Leu)), PCNT(NM_006031.5):c.4910C>T (p.P1637L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46401669C>T" "" "likely benign" "" "0000328801" "0" "50" "21" "47821622" "47821622" "subst" "0" "01804" "PCNT_000267" "g.47821622G>A" "" "" "" "PCNT(NM_006031.5):c.4949G>A (p.(Arg1650Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46401708G>A" "" "VUS" "" "0000328803" "0" "50" "21" "47831724" "47831724" "subst" "4.61586E-5" "01804" "PCNT_000278" "g.47831724G>A" "" "" "" "PCNT(NM_006031.5):c.5737G>A (p.(Gly1913Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411810G>A" "" "VUS" "" "0000328804" "0" "50" "21" "47831728" "47831728" "subst" "7.60316E-5" "01804" "PCNT_000279" "g.47831728C>T" "" "" "" "PCNT(NM_006031.5):c.5741C>T (p.(Ala1914Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411814C>T" "" "VUS" "" "0000328805" "0" "50" "21" "47831730" "47831730" "subst" "0.00121926" "01804" "PCNT_000281" "g.47831730G>A" "" "" "" "PCNT(NM_006031.5):c.5743G>A (p.A1915T, p.(Ala1915Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411816G>A" "" "VUS" "" "0000328807" "0" "30" "21" "47831802" "47831802" "subst" "0.00215672" "01804" "PCNT_000284" "g.47831802C>T" "" "" "" "PCNT(NM_006031.5):c.5815C>T (p.R1939W, p.(Arg1939Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46411888C>T" "" "likely benign" "" "0000328808" "0" "30" "21" "47831985" "47831985" "subst" "0.000100089" "01804" "PCNT_000289" "g.47831985G>A" "" "" "" "PCNT(NM_006031.5):c.5994+4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46412071G>A" "" "likely benign" "" "0000328810" "0" "30" "21" "47835979" "47835979" "subst" "0" "01804" "PCNT_000294" "g.47835979G>A" "" "" "" "PCNT(NM_006031.5):c.6151-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416065G>A" "" "likely benign" "" "0000328811" "0" "30" "21" "47836027" "47836027" "subst" "0.000207103" "01804" "PCNT_000295" "g.47836027T>G" "" "" "" "PCNT(NM_006031.5):c.6195T>G (p.D2065E, p.(Asp2065Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416113T>G" "" "likely benign" "" "0000328813" "0" "50" "21" "47836127" "47836127" "subst" "5.68496E-5" "01804" "PCNT_000299" "g.47836127C>T" "" "" "" "PCNT(NM_006031.5):c.6295C>T (p.P2099S, p.(Pro2099Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416213C>T" "" "VUS" "" "0000328814" "0" "30" "21" "47836571" "47836571" "subst" "0.0118108" "01804" "PCNT_000310" "g.47836571C>T" "" "" "" "PCNT(NM_001315529.1):c.6385C>T (p.(His2129Tyr)), PCNT(NM_006031.5):c.6739C>T (p.H2247Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416657C>T" "" "likely benign" "" "0000328815" "0" "30" "21" "47836676" "47836676" "subst" "8.61824E-5" "01804" "PCNT_000315" "g.47836676G>A" "" "" "" "PCNT(NM_006031.5):c.6844G>A (p.(Val2282Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46416762G>A" "" "likely benign" "" "0000328816" "0" "30" "21" "47838153" "47838153" "subst" "0.00175484" "01804" "PCNT_000320" "g.47838153T>G" "" "" "" "PCNT(NM_001315529.1):c.6603T>G (p.(Phe2201Leu)), PCNT(NM_006031.5):c.6957T>G (p.F2319L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46418239T>G" "" "likely benign" "" "0000328817" "0" "30" "21" "47838182" "47838182" "subst" "0.00282743" "01804" "PCNT_000321" "g.47838182C>G" "" "" "" "PCNT(NM_001315529.1):c.6632C>G (p.(Pro2211Arg)), PCNT(NM_006031.5):c.6986C>G (p.P2329R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46418268C>G" "" "likely benign" "" "0000328818" "0" "30" "21" "47838209" "47838209" "subst" "0" "01804" "PCNT_000322" "g.47838209G>A" "" "" "" "PCNT(NM_006031.5):c.7013G>A (p.(Arg2338Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46418295G>A" "" "likely benign" "" "0000328821" "0" "30" "21" "47845836" "47845836" "subst" "4.06108E-6" "01804" "PCNT_000329" "g.47845836G>A" "" "" "" "PCNT(NM_006031.5):c.7271G>A (p.(Arg2424Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46425922G>A" "" "likely benign" "" "0000328823" "0" "30" "21" "47847619" "47847619" "subst" "0.00174263" "01804" "PCNT_000333" "g.47847619G>C" "" "" "" "PCNT(NM_001315529.1):c.7050G>C (p.(Gln2350His)), PCNT(NM_006031.5):c.7404G>C (p.Q2468H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46427705G>C" "" "likely benign" "" "0000328824" "0" "50" "21" "47849921" "47849921" "subst" "4.06283E-6" "01804" "PCNT_000343" "g.47849921C>T" "" "" "" "PCNT(NM_006031.5):c.7691-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46430007C>T" "" "VUS" "" "0000328826" "0" "30" "21" "47850417" "47850417" "subst" "0.00132802" "01804" "PCNT_000352" "g.47850417G>A" "" "" "" "PCNT(NM_001315529.1):c.7560-4G>A (p.?), PCNT(NM_006031.5):c.7914-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46430503G>A" "" "likely benign" "" "0000328827" "0" "30" "21" "47851776" "47851776" "subst" "0.000138268" "01804" "PCNT_000360" "g.47851776C>T" "" "" "" "PCNT(NM_006031.5):c.8398C>T (p.(Arg2800Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46431862C>T" "" "likely benign" "" "0000328829" "0" "30" "21" "47855812" "47855812" "subst" "0.00757" "01804" "PCNT_000366" "g.47855812A>C" "" "" "" "PCNT(NM_001315529.1):c.8161-5A>C (p.?), PCNT(NM_006031.5):c.8752-5A>C, PCNT(NM_006031.6):c.8752-5A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46435899A>C" "" "likely benign" "" "0000328830" "0" "30" "21" "47855836" "47855836" "subst" "7.33586E-5" "01804" "PCNT_000367" "g.47855836G>A" "" "" "" "PCNT(NM_006031.5):c.8771G>A (p.(Arg2924His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46435923G>A" "" "likely benign" "" "0000328832" "0" "30" "21" "47855989" "47855989" "subst" "0.00283417" "01804" "PCNT_000371" "g.47855989T>C" "" "" "" "PCNT(NM_001315529.1):c.8333T>C (p.(Leu2778Pro)), PCNT(NM_006031.5):c.8924T>C (p.L2975P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46436076T>C" "" "likely benign" "" "0000328835" "0" "30" "21" "47859993" "47859993" "subst" "0.00605982" "01804" "PCNT_000379" "g.47859993C>T" "" "" "" "PCNT(NM_001315529.1):c.8683-3C>T (p.?), PCNT(NM_006031.5):c.9274-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46440080C>T" "" "likely benign" "" "0000328836" "0" "30" "21" "47860026" "47860026" "subst" "3.65687E-5" "01804" "PCNT_000381" "g.47860026G>A" "" "" "" "PCNT(NM_006031.5):c.9304G>A (p.(Glu3102Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46440113G>A" "" "likely benign" "" "0000328837" "0" "30" "21" "47863729" "47863729" "subst" "0.00217891" "01804" "PCNT_000386" "g.47863729G>A" "" "" "" "PCNT(NM_006031.5):c.9707G>A (p.R3236Q, p.(Arg3236Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46443816G>A" "" "likely benign" "" "0000571094" "0" "30" "21" "47744202" "47744202" "subst" "0.0444337" "01804" "PCNT_000176" "g.47744202C>T" "" "" "" "PCNT(NM_006031.5):c.54+6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46324288C>T" "" "likely benign" "" "0000571095" "0" "50" "21" "47746325" "47746325" "subst" "3.24844E-5" "01804" "C21orf58_000006" "g.47746325A>G" "" "" "" "PCNT(NM_006031.5):c.89A>G (p.(Asp30Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46326411A>G" "" "VUS" "" "0000571097" "0" "30" "21" "47754380" "47754380" "subst" "8.12163E-6" "01804" "PCNT_000392" "g.47754380C>A" "" "" "" "PCNT(NM_006031.5):c.337C>A (p.(Pro113Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46334466C>A" "" "likely benign" "" "0000571098" "0" "30" "21" "47754400" "47754400" "subst" "0" "01804" "PCNT_000393" "g.47754400G>T" "" "" "" "PCNT(NM_006031.5):c.357G>T (p.(Met119Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46334486G>T" "" "likely benign" "" "0000571099" "0" "30" "21" "47754432" "47754432" "subst" "1.23064E-5" "01804" "PCNT_000394" "g.47754432A>G" "" "" "" "PCNT(NM_006031.5):c.389A>G (p.(His130Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46334518A>G" "" "likely benign" "" "0000571100" "0" "30" "21" "47754461" "47754461" "subst" "6.4973E-5" "01804" "PCNT_000395" "g.47754461C>T" "" "" "" "PCNT(NM_006031.5):c.418C>T (p.(Pro140Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46334547C>T" "" "likely benign" "" "0000571104" "0" "30" "21" "47754510" "47754548" "dup" "0" "01943" "PCNT_000184" "g.47754510_47754548dup" "" "" "" "PCNT(NM_001315529.1):c.113_151dup (p.(His38_Gln50dup)), PCNT(NM_006031.5):c.467_505dup (p.H156_Q168dup), PCNT(NM_006031.6):c.467_505dup (p.H156_Q1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46334596_46334634dup" "" "likely benign" "" "0000571105" "0" "30" "21" "47754510" "47754548" "dup" "0" "02325" "PCNT_000184" "g.47754510_47754548dup" "" "" "" "PCNT(NM_001315529.1):c.113_151dup (p.(His38_Gln50dup)), PCNT(NM_006031.5):c.467_505dup (p.H156_Q168dup), PCNT(NM_006031.6):c.467_505dup (p.H156_Q1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46334596_46334634dup" "" "likely benign" "" "0000571106" "0" "30" "21" "47754563" "47754563" "subst" "0.0321293" "01804" "PCNT_000195" "g.47754563A>G" "" "" "" "PCNT(NM_006031.5):c.520A>G (p.I174V, p.(Ile174Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46334649A>G" "" "likely benign" "" "0000571107" "0" "30" "21" "47754576" "47754576" "subst" "4.06388E-6" "02325" "PCNT_000196" "g.47754576A>C" "" "" "" "PCNT(NM_001315529.1):c.179A>C (p.(Gln60Pro)), PCNT(NM_006031.6):c.533A>C (p.Q178P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46334662A>C" "" "likely benign" "" "0000571108" "0" "30" "21" "47754666" "47754666" "subst" "0.000211156" "01804" "PCNT_000199" "g.47754666G>A" "" "" "" "PCNT(NM_006031.5):c.623G>A (p.(Arg208His)), PCNT(NM_006031.6):c.623G>A (p.R208H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46334752G>A" "" "likely benign" "" "0000571109" "0" "30" "21" "47766046" "47766046" "subst" "0.000239582" "01943" "PCNT_000397" "g.47766046G>A" "" "" "" "PCNT(NM_006031.5):c.644G>A (p.C215Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46346132G>A" "" "likely benign" "" "0000571110" "0" "10" "21" "47766113" "47766113" "subst" "0.0459763" "01943" "PCNT_000398" "g.47766113T>G" "" "" "" "PCNT(NM_006031.5):c.711T>G (p.H237Q, p.(His237Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46346199T>G" "" "benign" "" "0000571111" "0" "30" "21" "47766113" "47766113" "subst" "0.0459763" "01804" "PCNT_000398" "g.47766113T>G" "" "" "" "PCNT(NM_006031.5):c.711T>G (p.H237Q, p.(His237Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46346199T>G" "" "likely benign" "" "0000571112" "0" "30" "21" "47766895" "47766895" "subst" "0.000113351" "01943" "PCNT_000399" "g.47766895G>A" "" "" "" "PCNT(NM_006031.5):c.959G>A (p.R320K, p.(Arg320Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46346981G>A" "" "likely benign" "" "0000571113" "0" "30" "21" "47766895" "47766895" "subst" "0.000113351" "01804" "PCNT_000399" "g.47766895G>A" "" "" "" "PCNT(NM_006031.5):c.959G>A (p.R320K, p.(Arg320Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46346981G>A" "" "likely benign" "" "0000571117" "0" "50" "21" "47769071" "47769073" "del" "0" "01804" "PCNT_000403" "g.47769071_47769073del" "" "" "" "PCNT(NM_006031.5):c.1175_1177del (p.(Lys393del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46349157_46349159del" "" "VUS" "" "0000571119" "0" "30" "21" "47776895" "47776895" "subst" "9.34678E-5" "01804" "PCNT_000405" "g.47776895C>G" "" "" "" "PCNT(NM_006031.5):c.1943C>G (p.(Pro648Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46356980C>G" "" "likely benign" "" "0000571120" "0" "30" "21" "47776923" "47776923" "subst" "8.52833E-5" "01943" "PCNT_000406" "g.47776923C>G" "" "" "" "PCNT(NM_006031.5):c.1971C>G (p.D657E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46357008C>G" "" "likely benign" "" "0000571123" "0" "30" "21" "47776985" "47776985" "subst" "0.00173386" "01804" "PCNT_000216" "g.47776985A>G" "" "" "" "PCNT(NM_006031.5):c.2033A>G (p.K678R, p.(Lys678Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46357070A>G" "" "likely benign" "" "0000571126" "0" "30" "21" "47786491" "47786491" "subst" "0.000617648" "01943" "PCNT_000227" "g.47786491T>C" "" "" "" "PCNT(NM_001315529.1):c.2256-8T>C (p.(=)), PCNT(NM_006031.5):c.2610-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46366576T>C" "" "likely benign" "" "0000571127" "0" "30" "21" "47786568" "47786568" "subst" "0" "01943" "PCNT_000411" "g.47786568C>T" "" "" "" "PCNT(NM_006031.5):c.2679C>T (p.A893=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46366653C>T" "" "likely benign" "" "0000571128" "0" "30" "21" "47786581" "47786581" "subst" "2.44105E-5" "01943" "PCNT_000412" "g.47786581G>A" "" "" "" "PCNT(NM_006031.5):c.2692G>A (p.A898T), PCNT(NM_006031.6):c.2692G>A (p.A898T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46366666G>A" "" "likely benign" "" "0000571129" "0" "50" "21" "47786581" "47786581" "subst" "2.44105E-5" "02325" "PCNT_000412" "g.47786581G>A" "" "" "" "PCNT(NM_006031.5):c.2692G>A (p.A898T), PCNT(NM_006031.6):c.2692G>A (p.A898T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46366666G>A" "" "VUS" "" "0000571130" "0" "30" "21" "47786639" "47786639" "subst" "0.000130421" "01804" "PCNT_000413" "g.47786639C>T" "" "" "" "PCNT(NM_006031.5):c.2750C>T (p.(Ala917Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46366724C>T" "" "likely benign" "" "0000571132" "0" "90" "21" "47786707" "47786707" "dup" "0" "02329" "PCNT_000415" "g.47786707dup" "" "" "" "PCNT(NM_006031.6):c.2818dupG (p.A940Gfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46366792dup" "" "pathogenic" "" "0000571133" "0" "30" "21" "47786722" "47786722" "subst" "0.000504981" "01804" "PCNT_000231" "g.47786722C>T" "" "" "" "PCNT(NM_001315529.1):c.2479C>T (p.(Arg827Cys)), PCNT(NM_001315529.2):c.2479C>T (p.R827C), PCNT(NM_006031.5):c.2833C>T (p.R945C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46366807C>T" "" "likely benign" "" "0000571134" "0" "30" "21" "47787032" "47787032" "subst" "0" "01804" "PCNT_000416" "g.47787032A>G" "" "" "" "PCNT(NM_006031.5):c.3143A>G (p.(His1048Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46367117A>G" "" "likely benign" "" "0000571135" "0" "30" "21" "47805774" "47805774" "subst" "8.12123E-6" "01943" "PCNT_000417" "g.47805774C>T" "" "" "" "PCNT(NM_006031.5):c.3340C>T (p.H1114Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46385859C>T" "" "likely benign" "" "0000571138" "0" "30" "21" "47808772" "47808772" "subst" "0.0358494" "01804" "PCNT_000243" "g.47808772G>A" "" "" "" "PCNT(NM_006031.5):c.3580G>A (p.A1194T, p.(Ala1194Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46388857G>A" "" "likely benign" "" "0000571139" "0" "30" "21" "47809236" "47809236" "subst" "2.84241E-5" "01943" "PCNT_000419" "g.47809236A>G" "" "" "" "PCNT(NM_006031.5):c.3730A>G (p.M1244V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46389321A>G" "" "likely benign" "" "0000571141" "0" "50" "21" "47809305" "47809305" "subst" "4.06501E-6" "01804" "PCNT_000421" "g.47809305G>T" "" "" "" "PCNT(NM_006031.5):c.3799G>T (p.(Val1267Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46389390G>T" "" "VUS" "" "0000571142" "0" "30" "21" "47811183" "47811183" "subst" "0" "01804" "PCNT_000246" "g.47811183C>T" "" "" "" "PCNT(NM_006031.5):c.4108C>T (p.R1370W, p.(Arg1370Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46391268C>T" "" "likely benign" "" "0000571143" "0" "30" "21" "47811217" "47811217" "subst" "0.000524579" "01804" "PCNT_000422" "g.47811217C>T" "" "" "" "PCNT(NM_001315529.1):c.3788C>T (p.(Ala1263Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46391302C>T" "" "likely benign" "" "0000571145" "0" "30" "21" "47811302" "47811302" "subst" "7.13043E-5" "02325" "PCNT_000424" "g.47811302C>T" "" "" "" "PCNT(NM_006031.6):c.4216+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46391387C>T" "" "likely benign" "" "0000571146" "0" "30" "21" "47817247" "47817247" "subst" "0.00386916" "01804" "PCNT_000252" "g.47817247C>T" "" "" "" "PCNT(NM_001315529.1):c.3931C>T (p.(Arg1311Cys)), PCNT(NM_006031.5):c.4285C>T (p.R1429C), PCNT(NM_006031.6):c.4285C>T (p.R1429C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46397333C>T" "" "likely benign" "" "0000571147" "0" "10" "21" "47817316" "47817316" "subst" "0.00283971" "01943" "PCNT_000425" "g.47817316G>A" "" "" "" "PCNT(NM_001315529.1):c.4000G>A (p.(Gly1334Arg)), PCNT(NM_006031.5):c.4354G>A (p.G1452R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46397402G>A" "" "benign" "" "0000571148" "0" "30" "21" "47817316" "47817316" "subst" "0.00283971" "01804" "PCNT_000425" "g.47817316G>A" "" "" "" "PCNT(NM_001315529.1):c.4000G>A (p.(Gly1334Arg)), PCNT(NM_006031.5):c.4354G>A (p.G1452R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46397402G>A" "" "likely benign" "" "0000571149" "0" "50" "21" "47817956" "47817956" "subst" "0" "01804" "PCNT_000426" "g.47817956G>A" "" "" "" "PCNT(NM_006031.6):c.4475G>A (p.(Arg1492His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46398042G>A" "" "VUS" "" "0000571151" "0" "30" "21" "47819594" "47819594" "subst" "0.000925843" "01804" "PCNT_000260" "g.47819594A>T" "" "" "" "PCNT(NM_006031.5):c.4675A>T (p.M1559L, p.(Met1559Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46399680A>T" "" "likely benign" "" "0000571155" "0" "10" "21" "47831309" "47831309" "subst" "0.0954606" "01943" "PCNT_000430" "g.47831309G>A" "" "" "" "PCNT(NM_006031.5):c.5322G>A (p.E1774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46411395G>A" "" "benign" "" "0000571158" "0" "50" "21" "47831535" "47831535" "subst" "1.64536E-5" "01804" "PCNT_000433" "g.47831535G>A" "" "" "" "PCNT(NM_006031.5):c.5548G>A (p.(Glu1850Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46411621G>A" "" "VUS" "" "0000571159" "0" "30" "21" "47831623" "47831623" "subst" "8.36113E-6" "01804" "PCNT_000275" "g.47831623C>G" "" "" "" "PCNT(NM_006031.5):c.5636C>G (p.A1879G, p.(Ala1879Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46411709C>G" "" "likely benign" "" "0000571160" "0" "30" "21" "47831758" "47831758" "subst" "0.00601594" "01804" "PCNT_000282" "g.47831758C>T" "" "" "" "PCNT(NM_001315529.1):c.5417C>T (p.(Ala1806Val)), PCNT(NM_006031.5):c.5771C>T (p.A1924V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46411844C>T" "" "likely benign" "" "0000571162" "0" "30" "21" "47831845" "47831845" "subst" "0.0442461" "01804" "PCNT_000285" "g.47831845G>A" "" "" "" "PCNT(NM_006031.5):c.5858G>A (p.R1953H, p.(Arg1953His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46411931G>A" "" "likely benign" "" "0000571163" "0" "10" "21" "47831866" "47831866" "subst" "0.00515577" "01804" "PCNT_000286" "g.47831866G>A" "" "" "" "PCNT(NM_001315529.1):c.5525G>A (p.(Arg1842Gln)), PCNT(NM_006031.5):c.5879G>A (p.R1960Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46411952G>A" "" "benign" "" "0000571164" "0" "30" "21" "47832828" "47832828" "subst" "0.000375829" "01943" "PCNT_000435" "g.47832828C>T" "" "" "" "PCNT(NM_006031.5):c.6072C>T (p.T2024=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46412914C>T" "" "likely benign" "" "0000571165" "0" "30" "21" "47832836" "47832836" "subst" "0.00176505" "01804" "PCNT_000292" "g.47832836A>G" "" "" "" "PCNT(NM_006031.5):c.6080A>G (p.Q2027R, p.(Gln2027Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46412922A>G" "" "likely benign" "" "0000571167" "0" "10" "21" "47832917" "47832917" "subst" "0.0041809" "01943" "PCNT_000437" "g.47832917G>C" "" "" "" "PCNT(NM_006031.5):c.6150+11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46413003G>C" "" "benign" "" "0000571169" "0" "30" "21" "47836403" "47836403" "subst" "0.0366977" "01804" "PCNT_000305" "g.47836403T>C" "" "" "" "PCNT(NM_006031.5):c.6571T>C (p.S2191P, p.(Ser2191Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46416489T>C" "" "likely benign" "" "0000571170" "0" "30" "21" "47836457" "47836457" "subst" "8.14637E-5" "01804" "PCNT_000439" "g.47836457G>A" "" "" "" "PCNT(NM_006031.5):c.6625G>A (p.(Ala2209Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46416543G>A" "" "likely benign" "" "0000571171" "0" "30" "21" "47836466" "47836466" "subst" "0.00551099" "01804" "PCNT_000440" "g.47836466C>T" "" "" "" "PCNT(NM_001315529.1):c.6280C>T (p.(Arg2094Trp)), PCNT(NM_006031.5):c.6634C>T (p.R2212W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46416552C>T" "" "likely benign" "" "0000571172" "0" "30" "21" "47836727" "47836727" "subst" "0.000286768" "01943" "PCNT_000441" "g.47836727G>A" "" "" "" "PCNT(NM_001315529.1):c.6541G>A (p.(Asp2181Asn)), PCNT(NM_006031.5):c.6895G>A (p.D2299N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46416813G>A" "" "likely benign" "" "0000571173" "0" "30" "21" "47836727" "47836727" "subst" "0.000286768" "01804" "PCNT_000441" "g.47836727G>A" "" "" "" "PCNT(NM_001315529.1):c.6541G>A (p.(Asp2181Asn)), PCNT(NM_006031.5):c.6895G>A (p.D2299N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46416813G>A" "" "likely benign" "" "0000571174" "0" "10" "21" "47838113" "47838114" "ins" "0.0909408" "01943" "PCNT_000442" "g.47838113_47838114insTCTGA" "" "" "" "PCNT(NM_006031.5):c.6922-5_6922-4insTCTGA, PCNT(NM_006031.5):c.6922-6_6922-5insATCTG, PCNT(NM_006031.5):c.6922-6_6922-5insATCTG (p.?), PCNT(NM_006...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46418199_46418200insTCTGA" "" "benign" "" "0000571175" "0" "10" "21" "47838113" "47838114" "ins" "0.0909408" "02325" "PCNT_000442" "g.47838113_47838114insTCTGA" "" "" "" "PCNT(NM_006031.5):c.6922-5_6922-4insTCTGA, PCNT(NM_006031.5):c.6922-6_6922-5insATCTG, PCNT(NM_006031.5):c.6922-6_6922-5insATCTG (p.?), PCNT(NM_006...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46418199_46418200insTCTGA" "" "benign" "" "0000571177" "0" "30" "21" "47841888" "47841888" "subst" "8.12499E-5" "01804" "PCNT_000444" "g.47841888C>T" "" "" "" "PCNT(NM_006031.5):c.7029C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46421974C>T" "" "likely benign" "" "0000571178" "0" "30" "21" "47841899" "47841899" "subst" "0.000755539" "01943" "PCNT_000323" "g.47841899T>C" "" "" "" "PCNT(NM_006031.5):c.7040T>C (p.F2347S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46421985T>C" "" "likely benign" "" "0000571179" "0" "30" "21" "47841987" "47841987" "subst" "0" "01943" "PCNT_000445" "g.47841987G>T" "" "" "" "PCNT(NM_006031.5):c.7128G>T (p.Q2376H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46422073G>T" "" "likely benign" "" "0000571180" "0" "30" "21" "47841989" "47841989" "subst" "0.0431561" "01804" "PCNT_000326" "g.47841989C>T" "" "" "" "PCNT(NM_006031.5):c.7130C>T (p.P2377L, p.(Pro2377Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46422075C>T" "" "likely benign" "" "0000571181" "0" "30" "21" "47845737" "47845737" "subst" "0.00158667" "01804" "PCNT_000446" "g.47845737C>T" "" "" "" "PCNT(NM_001315529.1):c.6826-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46425823C>T" "" "likely benign" "" "0000571184" "0" "90" "21" "47847638" "47847638" "subst" "4.0624E-6" "01943" "PCNT_000449" "g.47847638C>T" "" "" "" "PCNT(NM_006031.5):c.7423C>T (p.R2475*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46427724C>T" "" "pathogenic" "" "0000571185" "0" "30" "21" "47847674" "47847674" "subst" "0.000434839" "01804" "PCNT_000450" "g.47847674C>G" "" "" "" "PCNT(NM_006031.5):c.7459C>G (p.L2487V, p.(Leu2487Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46427760C>G" "" "likely benign" "" "0000571186" "0" "30" "21" "47848466" "47848466" "subst" "0.0140774" "01804" "PCNT_000340" "g.47848466C>T" "" "" "" "PCNT(NM_001315529.1):c.7298C>T (p.(Ala2433Val)), PCNT(NM_006031.5):c.7652C>T (p.A2551V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46428552C>T" "" "likely benign" "" "0000571187" "0" "90" "21" "47850019" "47850019" "subst" "0" "02327" "PCNT_000344" "g.47850019C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46430105C>T" "" "pathogenic" "" "0000571189" "0" "30" "21" "47851486" "47851486" "subst" "4.06428E-6" "01804" "PCNT_000451" "g.47851486G>A" "" "" "" "PCNT(NM_006031.5):c.8108G>A (p.(Arg2703Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46431572G>A" "" "likely benign" "" "0000571190" "0" "50" "21" "47851561" "47851561" "subst" "0" "01804" "PCNT_000452" "g.47851561G>T" "" "" "" "PCNT(NM_006031.5):c.8183G>T (p.(Arg2728Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46431647G>T" "" "VUS" "" "0000571191" "0" "30" "21" "47851636" "47851636" "subst" "0.046176" "01804" "PCNT_000358" "g.47851636G>A" "" "" "" "PCNT(NM_006031.5):c.8258G>A (p.R2753H, p.(Arg2753His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46431722G>A" "" "likely benign" "" "0000571192" "0" "50" "21" "47851672" "47851672" "subst" "2.05263E-5" "01943" "PCNT_000453" "g.47851672G>A" "" "" "" "PCNT(NM_006031.5):c.8294G>A (p.R2765Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46431758G>A" "" "VUS" "" "0000571193" "0" "30" "21" "47851809" "47851809" "subst" "0.000528455" "01804" "PCNT_000454" "g.47851809G>T" "" "" "" "PCNT(NM_006031.5):c.8431G>T (p.(Val2811Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46431895G>T" "" "likely benign" "" "0000571194" "0" "50" "21" "47852011" "47852011" "subst" "0" "02329" "PCNT_000455" "g.47852011C>G" "" "" "" "PCNT(NM_006031.6):c.8633C>G (p.S2878*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46432097C>G" "" "VUS" "" "0000571195" "0" "30" "21" "47852049" "47852049" "subst" "0.00706249" "01804" "PCNT_000363" "g.47852049G>A" "" "" "" "PCNT(NM_006031.5):c.8671G>A (p.A2891T, p.(Ala2891Thr)), PCNT(NM_006031.6):c.8671G>A (p.A2891T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46432135G>A" "" "likely benign" "" "0000571197" "0" "30" "21" "47852080" "47852080" "subst" "0.000361269" "01804" "PCNT_000364" "g.47852080C>T" "" "" "" "PCNT(NM_006031.5):c.8702C>T (p.P2901L, p.(Pro2901Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46432166C>T" "" "likely benign" "" "0000571199" "0" "10" "21" "47852151" "47852152" "ins" "0.999995" "01943" "PCNT_000458" "g.47852151_47852152insG" "" "" "" "PCNT(NM_006031.5):c.8751+24dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46432237_46432238insG" "" "benign" "" "0000571200" "0" "50" "21" "47855938" "47855938" "subst" "5.29394E-5" "01943" "PCNT_000459" "g.47855938G>A" "" "" "" "PCNT(NM_006031.5):c.8873G>A (p.R2958H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46436025G>A" "" "VUS" "" "0000571201" "0" "30" "21" "47855971" "47855971" "subst" "3.28386E-5" "01943" "PCNT_000460" "g.47855971G>A" "" "" "" "PCNT(NM_006031.5):c.8906G>A (p.R2969Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46436058G>A" "" "likely benign" "" "0000571202" "0" "30" "21" "47855983" "47855983" "subst" "1.64927E-5" "01943" "PCNT_000461" "g.47855983G>A" "" "" "" "PCNT(NM_006031.5):c.8918G>A (p.R2973Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46436070G>A" "" "likely benign" "" "0000571203" "0" "50" "21" "47856012" "47856012" "subst" "0.000130961" "01943" "PCNT_000462" "g.47856012C>T" "" "" "" "PCNT(NM_006031.5):c.8947C>T (p.L2983F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46436099C>T" "" "VUS" "" "0000571204" "0" "10" "21" "47856053" "47856053" "subst" "0.0267506" "01943" "PCNT_000463" "g.47856053C>T" "" "" "" "PCNT(NM_006031.5):c.8988C>T (p.A2996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46436140C>T" "" "benign" "" "0000571205" "0" "30" "21" "47856909" "47856909" "subst" "0.00478801" "01804" "PCNT_000372" "g.47856909C>T" "" "" "" "PCNT(NM_001315529.1):c.8423C>T (p.(Thr2808Met)), PCNT(NM_006031.5):c.9014C>T (p.T3005M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46436996C>T" "" "likely benign" "" "0000571206" "0" "90" "21" "47856973" "47856973" "del" "4.06273E-6" "01804" "PCNT_000464" "g.47856973del" "" "" "" "PCNT(NM_001315529.1):c.8487del (p.(Ser2830AlafsTer23))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46437060del" "" "pathogenic" "" "0000571209" "0" "30" "21" "47858248" "47858248" "subst" "0.0338748" "01804" "PCNT_000391" "g.47858248A>G" "" "" "" "PCNT(NM_006031.5):c.9271A>G (p.S3091G, p.(Ser3091Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46438335A>G" "" "likely benign" "" "0000571210" "0" "30" "21" "47860056" "47860056" "subst" "5.6911E-5" "01804" "PCNT_000467" "g.47860056C>T" "" "" "" "PCNT(NM_006031.5):c.9334C>T (p.(Pro3112Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46440143C>T" "" "likely benign" "" "0000571212" "0" "10" "21" "47861005" "47861005" "subst" "0.000824928" "01804" "PCNT_000469" "g.47861005C>T" "" "" "" "PCNT(NM_001315529.1):c.9032+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46441092C>T" "" "benign" "" "0000571213" "0" "50" "21" "47862447" "47862447" "subst" "7.7163E-5" "01943" "PCNT_000470" "g.47862447C>T" "" "" "" "PCNT(NM_006031.5):c.9661C>T (p.R3221W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46442534C>T" "" "VUS" "" "0000571214" "0" "30" "21" "47863780" "47863780" "subst" "0.00014234" "01804" "PCNT_000471" "g.47863780G>A" "" "" "" "PCNT(NM_006031.5):c.9758G>A (p.(Arg3253Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46443867G>A" "" "likely benign" "" "0000571216" "0" "30" "21" "47864633" "47864633" "subst" "9.34041E-5" "01943" "PCNT_000473" "g.47864633T>C" "" "" "" "PCNT(NM_001315529.1):c.9275T>C (p.(Leu3092Ser)), PCNT(NM_006031.5):c.9866T>C (p.L3289S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46444720T>C" "" "likely benign" "" "0000618430" "0" "50" "21" "47746473" "47746473" "del" "4.06171E-6" "01804" "C21orf58_000008" "g.47746473del" "" "" "" "PCNT(NM_006031.5):c.237del (p.(Asp80MetfsTer173))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46326559del" "" "VUS" "" "0000618431" "0" "30" "21" "47769636" "47769636" "subst" "0.000207088" "01804" "PCNT_000474" "g.47769636A>G" "" "" "" "PCNT(NM_006031.5):c.1246A>G (p.(Ile416Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46349722A>G" "" "likely benign" "" "0000618432" "0" "30" "21" "47786584" "47786584" "subst" "0" "01804" "PCNT_000477" "g.47786584C>T" "" "" "" "PCNT(NM_006031.5):c.2695C>T (p.(Arg899Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46366669C>T" "" "likely benign" "" "0000618433" "0" "30" "21" "47818143" "47818143" "subst" "0" "01943" "PCNT_000479" "g.47818143C>G" "" "" "" "PCNT(NM_006031.5):c.4564-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46398229C>G" "" "likely benign" "" "0000618434" "0" "50" "21" "47831694" "47831694" "subst" "0.00105786" "01943" "PCNT_000480" "g.47831694C>T" "" "" "" "PCNT(NM_001315529.1):c.5353C>T (p.(Arg1785Cys)), PCNT(NM_006031.5):c.5707C>T (p.R1903C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46411780C>T" "" "VUS" "" "0000618435" "0" "50" "21" "47831695" "47831695" "subst" "0.00102519" "01943" "PCNT_000481" "g.47831695G>T" "" "" "" "PCNT(NM_001315529.1):c.5354G>T (p.(Arg1785Leu)), PCNT(NM_006031.5):c.5708G>T (p.R1903L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46411781G>T" "" "VUS" "" "0000618437" "0" "30" "21" "47838113" "47838114" "ins" "0.0909408" "01804" "PCNT_000442" "g.47838113_47838114insTCTGA" "" "" "" "PCNT(NM_006031.5):c.6922-5_6922-4insTCTGA, PCNT(NM_006031.5):c.6922-6_6922-5insATCTG, PCNT(NM_006031.5):c.6922-6_6922-5insATCTG (p.?), PCNT(NM_006...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46418199_46418200insTCTGA" "" "likely benign" "" "0000618438" "0" "30" "21" "47845847" "47845847" "subst" "1.21828E-5" "01943" "PCNT_000485" "g.47845847G>A" "" "" "" "PCNT(NM_006031.5):c.7282G>A (p.E2428K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46425933G>A" "" "likely benign" "" "0000624244" "0" "30" "21" "47775430" "47775430" "subst" "0" "01943" "PCNT_000475" "g.47775430G>A" "" "" "" "PCNT(NM_006031.5):c.1825G>A (p.E609K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46355515G>A" "" "likely benign" "" "0000624245" "0" "30" "21" "47783616" "47783616" "subst" "0.000219289" "01943" "PCNT_000476" "g.47783616A>C" "" "" "" "PCNT(NM_006031.5):c.2376A>C (p.R792=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46363701A>C" "" "likely benign" "" "0000624246" "0" "30" "21" "47805838" "47805838" "subst" "0.000361401" "01943" "PCNT_000478" "g.47805838G>A" "" "" "" "PCNT(NM_006031.5):c.3404G>A (p.R1135Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46385923G>A" "" "likely benign" "" "0000624247" "0" "30" "21" "47831892" "47831892" "subst" "1.76084E-5" "01943" "PCNT_000482" "g.47831892C>T" "" "" "" "PCNT(NM_006031.5):c.5905C>T (p.R1969C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46411978C>T" "" "likely benign" "" "0000624248" "0" "30" "21" "47838129" "47838129" "subst" "0.00378794" "01943" "PCNT_000484" "g.47838129C>T" "" "" "" "PCNT(NM_006031.5):c.6933C>T (p.V2311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46418215C>T" "" "likely benign" "" "0000624249" "0" "30" "21" "47847674" "47847674" "subst" "0.000434839" "01943" "PCNT_000450" "g.47847674C>G" "" "" "" "PCNT(NM_006031.5):c.7459C>G (p.L2487V, p.(Leu2487Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46427760C>G" "" "likely benign" "" "0000624250" "0" "30" "21" "47848496" "47848496" "subst" "3.22026E-5" "01943" "PCNT_000486" "g.47848496G>A" "" "" "" "PCNT(NM_006031.5):c.7682G>A (p.R2561H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46428582G>A" "" "likely benign" "" "0000650907" "1" "50" "21" "47766840" "47766840" "subst" "0.00140775" "03575" "PCNT_000204" "g.47766840G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs186701249}" "Germline" "" "rs186701249" "0" "" "" "g.46346926G>A" "" "VUS" "" "0000650908" "1" "30" "21" "47808772" "47808772" "subst" "0.0358494" "03575" "PCNT_000243" "g.47808772G>A" "52/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "52 heterozygous; {DB:CLININrs35044802}" "Germline" "" "rs35044802" "0" "" "" "g.46388857G>A" "" "likely benign" "" "0000650909" "1" "50" "21" "47832836" "47832836" "subst" "0.00176505" "03575" "PCNT_000292" "g.47832836A>G" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 9 heterozygous, no homozygous; {DB:CLININrs147189224}" "Germline" "" "rs147189224" "0" "" "" "g.46412922A>G" "" "VUS" "" "0000650911" "1" "30" "21" "47836571" "47836571" "subst" "0.0118108" "03575" "PCNT_000310" "g.47836571C>T" "26/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "26 heterozygous, no homozygous; {DB:CLININrs61735812}" "Germline" "" "rs61735812" "0" "" "" "g.46416657C>T" "" "likely benign" "" "0000650912" "1" "50" "21" "47850033" "47850033" "subst" "0.013742" "03575" "PCNT_000345" "g.47850033G>A" "18/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 18 heterozygous, no homozygous; {DB:CLININrs61735820}" "Germline" "" "rs61735820" "0" "" "" "g.46430119G>A" "" "VUS" "" "0000650913" "1" "30" "21" "47852085" "47852085" "subst" "0.0612123" "03575" "PCNT_000365" "g.47852085G>A" "228/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "228 heterozygous; {DB:CLININrs35147998}" "Germline" "" "rs35147998" "0" "" "" "g.46432171G>A" "" "likely benign" "" "0000653310" "1" "90" "21" "47855932" "47855932" "dup" "0" "03575" "PCNT_000487" "g.47855932dup" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587784320}\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs587784320" "0" "" "" "g.46436020dup" "" "pathogenic" "" "0000658862" "0" "30" "21" "47754487" "47754488" "ins" "0" "02325" "PCNT_000488" "g.47754487_47754488insGGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTC" "" "" "" "PCNT(NM_006031.6):c.444_445ins39 (p.V148_S149ins13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46334573_46334574insGGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTC" "" "likely benign" "" "0000658863" "0" "50" "21" "47754537" "47754575" "del" "0" "02325" "PCNT_000489" "g.47754537_47754575del" "" "" "" "PCNT(NM_006031.6):c.494_532del (p.P165_H177del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46334623_46334661del" "" "VUS" "" "0000658864" "0" "30" "21" "47821638" "47821638" "subst" "8.15707E-6" "02325" "PCNT_000490" "g.47821638G>A" "" "" "" "PCNT(NM_006031.6):c.4962+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46401724G>A" "" "likely benign" "" "0000658865" "0" "50" "21" "47858194" "47858194" "subst" "8.93394E-5" "01943" "PCNT_000491" "g.47858194G>A" "" "" "" "PCNT(NM_006031.5):c.9217G>A (p.V3073M), PCNT(NM_006031.6):c.9217G>A (p.(Val3073Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46438281G>A" "" "VUS" "" "0000669701" "3" "30" "21" "47808772" "47808772" "subst" "0.0358494" "03575" "PCNT_000243" "g.47808772G>A" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs35044802}" "Germline" "" "rs35044802" "0" "" "" "g.46388857G>A" "" "likely benign" "" "0000669702" "3" "30" "21" "47836403" "47836403" "subst" "0.0366977" "03575" "PCNT_000305" "g.47836403T>C" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs34151633}" "Germline" "" "rs34151633" "0" "" "" "g.46416489T>C" "" "likely benign" "" "0000669703" "3" "30" "21" "47852085" "47852085" "subst" "0.0612123" "03575" "PCNT_000365" "g.47852085G>A" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs35147998}" "Germline" "" "rs35147998" "0" "" "" "g.46432171G>A" "" "likely benign" "" "0000681762" "0" "30" "21" "47773050" "47773050" "subst" "0" "01804" "PCNT_000492" "g.47773050C>A" "" "" "" "PCNT(NM_006031.5):c.1489C>A (p.(Arg497Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681763" "0" "30" "21" "47809107" "47809107" "subst" "4.06981E-6" "01804" "PCNT_000493" "g.47809107C>T" "" "" "" "PCNT(NM_006031.5):c.3608-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681764" "0" "30" "21" "47811301" "47811301" "subst" "2.13785E-5" "01943" "PCNT_000494" "g.47811301G>A" "" "" "" "PCNT(NM_006031.5):c.4216+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681765" "0" "30" "21" "47831590" "47831590" "subst" "0.000207495" "01943" "PCNT_000495" "g.47831590C>T" "" "" "" "PCNT(NM_006031.5):c.5603C>T (p.A1868V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681766" "0" "30" "21" "47831877" "47831877" "subst" "2.23584E-5" "01943" "PCNT_000496" "g.47831877G>A" "" "" "" "PCNT(NM_006031.5):c.5890G>A (p.A1964T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681767" "0" "50" "21" "47836290" "47836290" "subst" "2.84252E-5" "01804" "PCNT_000497" "g.47836290A>G" "" "" "" "PCNT(NM_006031.5):c.6458A>G (p.(Asn2153Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683567" "3" "70" "21" "47775484" "47775484" "subst" "0" "00006" "PCNT_000498" "g.47775484G>C" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PS4,PM2" "Germline" "" "" "0" "" "" "g.46355569G>C" "" "likely pathogenic (recessive)" "ACMG" "0000693086" "0" "30" "21" "47783698" "47783698" "subst" "0.000113871" "01804" "PCNT_000499" "g.47783698C>T" "" "" "" "PCNT(NM_001315529.1):c.2104C>T (p.(Arg702Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693087" "0" "30" "21" "47783798" "47783798" "subst" "0.000111868" "01943" "PCNT_000500" "g.47783798C>T" "" "" "" "PCNT(NM_006031.5):c.2558C>T (p.A853V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693088" "0" "90" "21" "47786707" "47786707" "dup" "0" "02325" "PCNT_000415" "g.47786707dup" "" "" "" "PCNT(NM_006031.6):c.2818dupG (p.A940Gfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000693089" "0" "30" "21" "47809117" "47809117" "subst" "2.84585E-5" "01804" "PCNT_000501" "g.47809117C>T" "" "" "" "PCNT(NM_006031.5):c.3611C>T (p.(Pro1204Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693090" "0" "30" "21" "47842018" "47842018" "subst" "0.00173549" "01804" "PCNT_000327" "g.47842018G>A" "" "" "" "PCNT(NM_001315529.1):c.6805G>A (p.(Val2269Met)), PCNT(NM_006031.5):c.7159G>A (p.V2387M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693091" "0" "30" "21" "47845763" "47845763" "subst" "3.25095E-5" "01943" "PCNT_000447" "g.47845763C>T" "" "" "" "PCNT(NM_006031.5):c.7198C>T (p.R2400C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693092" "0" "50" "21" "47848471" "47848471" "subst" "6.49671E-5" "01943" "PCNT_000502" "g.47848471G>C" "" "" "" "PCNT(NM_006031.5):c.7657G>C (p.G2553R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693093" "0" "30" "21" "47858151" "47858151" "subst" "0.000775628" "01943" "PCNT_000503" "g.47858151G>A" "" "" "" "PCNT(NM_006031.5):c.9174G>A (p.A3058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693094" "0" "50" "21" "47860930" "47860930" "subst" "7.71505E-5" "01943" "PCNT_000504" "g.47860930C>T" "" "" "" "PCNT(NM_006031.5):c.9556C>T (p.R3186W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728004" "0" "30" "21" "47766130" "47766130" "subst" "0" "01943" "PCNT_000505" "g.47766130G>A" "" "" "" "PCNT(NM_006031.5):c.720+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728005" "0" "30" "21" "47786694" "47786694" "subst" "0" "01943" "PCNT_000506" "g.47786694G>A" "" "" "" "PCNT(NM_006031.5):c.2805G>A (p.E935=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728006" "0" "50" "21" "47786980" "47786980" "subst" "8.15109E-6" "01804" "PCNT_000508" "g.47786980C>T" "" "" "" "PCNT(NM_006031.5):c.3091C>T (p.(Arg1031Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728007" "0" "30" "21" "47808741" "47808741" "subst" "0.000355357" "01943" "PCNT_000509" "g.47808741C>T" "" "" "" "PCNT(NM_006031.5):c.3549C>T (p.I1183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728008" "0" "30" "21" "47811184" "47811184" "subst" "0.000336076" "01943" "PCNT_000510" "g.47811184G>A" "" "" "" "PCNT(NM_006031.5):c.4109G>A (p.R1370Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728009" "0" "50" "21" "47817966" "47817966" "subst" "0" "01943" "PCNT_000511" "g.47817966C>G" "" "" "" "PCNT(NM_006031.5):c.4485C>G (p.F1495L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728010" "0" "30" "21" "47831928" "47831928" "subst" "0" "01804" "PCNT_000512" "g.47831928G>A" "" "" "" "PCNT(NM_006031.5):c.5941G>A (p.(Asp1981Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728011" "0" "30" "21" "47845869" "47845869" "subst" "8.93437E-5" "01804" "PCNT_000513" "g.47845869A>G" "" "" "" "PCNT(NM_006031.5):c.7304A>G (p.(His2435Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728012" "0" "50" "21" "47850150" "47850150" "subst" "6.96128E-5" "01804" "PCNT_000514" "g.47850150C>T" "" "" "" "PCNT(NM_001315529.1):c.7559+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728013" "0" "50" "21" "47851587" "47851587" "subst" "0.000143004" "01943" "PCNT_000515" "g.47851587C>T" "" "" "" "PCNT(NM_006031.5):c.8209C>T (p.R2737W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728014" "0" "30" "21" "47855954" "47855954" "subst" "0.000882526" "01943" "PCNT_000516" "g.47855954G>A" "" "" "" "PCNT(NM_006031.5):c.8889G>A (p.S2963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728015" "0" "90" "21" "47860844" "47860844" "dup" "0" "02325" "PCNT_000517" "g.47860844dup" "" "" "" "PCNT(NM_006031.6):c.9470dupT (p.L3157Ffs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728016" "0" "30" "21" "47862480" "47862480" "subst" "0.000227492" "01804" "PCNT_000518" "g.47862480C>T" "" "" "" "PCNT(NM_001315529.1):c.9103C>T (p.(Arg3035Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730042" "3" "90" "21" "47786701" "47786701" "subst" "0" "00000" "PCNT_000507" "g.47786701C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_006031.5:c.2812C>T:(p.Gln938*)" "" "Germline" "" "" "0" "" "" "g.46366786C>T" "" "likely pathogenic (recessive)" "" "0000760750" "3" "70" "21" "47845864" "47845867" "del" "0" "01709" "PCNT_000519" "g.47845864_47845867del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.46425950_46425953del" "" "pathogenic (recessive)" "ACMG" "0000786980" "0" "90" "21" "47831754" "47831754" "subst" "6.29073E-6" "00006" "PCNT_000520" "g.47831754C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.46411840C>T" "" "pathogenic" "" "0000809452" "0" "30" "21" "47773080" "47773080" "subst" "0.000406293" "01943" "PCNT_000207" "g.47773080C>G" "" "" "" "PCNT(NM_006031.5):c.1519C>G (p.R507G), PCNT(NM_006031.6):c.1519C>G (p.R507G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809453" "0" "50" "21" "47786722" "47786722" "subst" "0.000504981" "02329" "PCNT_000231" "g.47786722C>T" "" "" "" "PCNT(NM_001315529.1):c.2479C>T (p.(Arg827Cys)), PCNT(NM_001315529.2):c.2479C>T (p.R827C), PCNT(NM_006031.5):c.2833C>T (p.R945C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809454" "0" "50" "21" "47786755" "47786755" "subst" "0.000117885" "01943" "PCNT_000521" "g.47786755G>A" "" "" "" "PCNT(NM_006031.5):c.2866G>A (p.D956N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809455" "0" "50" "21" "47821619" "47821619" "subst" "8.54478E-5" "01943" "PCNT_000522" "g.47821619T>C" "" "" "" "PCNT(NM_006031.5):c.4946T>C (p.L1649P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809456" "0" "70" "21" "47831430" "47831430" "del" "0" "01943" "PCNT_000523" "g.47831430del" "" "" "" "PCNT(NM_006031.5):c.5443delC (p.Q1815Rfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000809457" "0" "30" "21" "47832776" "47832776" "subst" "2.85889E-5" "01943" "PCNT_000524" "g.47832776C>T" "" "" "" "PCNT(NM_006031.5):c.6020C>T (p.T2007M), PCNT(NM_006031.6):c.6020C>T (p.(Thr2007Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809458" "0" "30" "21" "47836127" "47836127" "subst" "5.68496E-5" "01943" "PCNT_000299" "g.47836127C>T" "" "" "" "PCNT(NM_006031.5):c.6295C>T (p.P2099S, p.(Pro2099Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809459" "0" "50" "21" "47841889" "47841889" "subst" "1.62491E-5" "01943" "PCNT_000525" "g.47841889G>A" "" "" "" "PCNT(NM_006031.5):c.7030G>A (p.G2344S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809460" "0" "90" "21" "47847701" "47847707" "del" "0" "02329" "PCNT_000526" "g.47847701_47847707del" "" "" "" "PCNT(NM_001315529.2):c.7132_7138delCGTGAGC (p.Q2380Tfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000809461" "0" "30" "21" "47852020" "47852020" "subst" "2.44238E-5" "01804" "PCNT_000527" "g.47852020G>A" "" "" "" "PCNT(NM_006031.5):c.8642G>A (p.(Arg2881Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809462" "0" "30" "21" "47858115" "47858115" "subst" "0.000174635" "01943" "PCNT_000528" "g.47858115C>T" "" "" "" "PCNT(NM_006031.5):c.9138C>T (p.D3046=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000821033" "3" "90" "21" "47783647" "47783647" "subst" "0" "00006" "PCNT_000223" "g.47783647C>T" "" "{PMID:Kritioti 2021:34324503}" "" "" "ACMG PVS1, PM2, PP3, PP4" "Germline" "" "" "0" "" "" "g.46363732C>T" "" "pathogenic (recessive)" "ACMG" "0000856048" "0" "30" "21" "47817307" "47817307" "subst" "0.0033881" "02326" "PCNT_000254" "g.47817307C>G" "" "" "" "PCNT(NM_001315529.1):c.3991C>G (p.(Gln1331Glu)), PCNT(NM_006031.5):c.4345C>G (p.Q1449E), PCNT(NM_006031.6):c.4345C>G (p.Q1449E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856049" "0" "30" "21" "47851779" "47851779" "subst" "0.000195158" "01943" "PCNT_000361" "g.47851779G>C" "" "" "" "PCNT(NM_006031.5):c.8401G>C (p.V2801L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866698" "0" "30" "21" "47746441" "47746441" "subst" "8.12156E-6" "01804" "C21orf58_000013" "g.47746441A>G" "" "" "" "PCNT(NM_006031.5):c.205A>G (p.(Ile69Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866699" "0" "30" "21" "47769100" "47769100" "subst" "2.03077E-5" "01943" "PCNT_000529" "g.47769100C>T" "" "" "" "PCNT(NM_006031.5):c.1207C>T (p.R403W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866700" "0" "30" "21" "47783404" "47783404" "subst" "1.62615E-5" "01804" "PCNT_000530" "g.47783404A>G" "" "" "" "PCNT(NM_006031.5):c.2164A>G (p.(Asn722Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866701" "0" "30" "21" "47787061" "47787061" "subst" "2.54745E-5" "01804" "PCNT_000531" "g.47787061C>T" "" "" "" "PCNT(NM_001315529.1):c.2811+7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866702" "0" "50" "21" "47821627" "47821627" "subst" "1.62906E-5" "01804" "PCNT_000532" "g.47821627G>A" "" "" "" "PCNT(NM_006031.5):c.4954G>A (p.(Glu1652Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866703" "0" "50" "21" "47831163" "47831163" "subst" "0" "01804" "PCNT_000533" "g.47831163G>C" "" "" "" "PCNT(NM_006031.5):c.5176G>C (p.(Glu1726Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866704" "0" "30" "21" "47831685" "47831685" "subst" "5.75211E-5" "01804" "PCNT_000534" "g.47831685C>T" "" "" "" "PCNT(NM_001315529.1):c.5344C>T (p.(Arg1782Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866705" "0" "30" "21" "47832867" "47832867" "subst" "0" "01943" "PCNT_000535" "g.47832867G>A" "" "" "" "PCNT(NM_006031.5):c.6111G>A (p.V2037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866706" "0" "90" "21" "47836148" "47836157" "del" "0" "01943" "PCNT_000536" "g.47836148_47836157del" "" "" "" "PCNT(NM_006031.5):c.6316_6325delTTGGAGAGCA (p.L2106Afs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866707" "0" "30" "21" "47841952" "47841952" "subst" "0" "01943" "PCNT_000537" "g.47841952C>T" "" "" "" "PCNT(NM_006031.5):c.7093C>T (p.P2365S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866708" "0" "30" "21" "47841977" "47841977" "subst" "0.000418464" "01804" "PCNT_000538" "g.47841977G>A" "" "" "" "PCNT(NM_001315529.1):c.6764G>A (p.(Gly2255Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866709" "0" "30" "21" "47848382" "47848382" "subst" "0.000156533" "01943" "PCNT_000539" "g.47848382C>T" "" "" "" "PCNT(NM_006031.5):c.7568C>T (p.A2523V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866710" "0" "30" "21" "47848428" "47848428" "subst" "0" "01943" "PCNT_000540" "g.47848428G>A" "" "" "" "PCNT(NM_006031.5):c.7614G>A (p.K2538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866711" "0" "30" "21" "47849992" "47849992" "subst" "8.1213E-6" "01943" "PCNT_000541" "g.47849992G>A" "" "" "" "PCNT(NM_006031.5):c.7759G>A (p.E2587K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866712" "0" "10" "21" "47850107" "47850107" "subst" "0.0154293" "01804" "PCNT_000349" "g.47850107G>A" "" "" "" "PCNT(NM_006031.5):c.7874G>A (p.R2625Q, p.(Arg2625Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866713" "0" "30" "21" "47852090" "47852090" "subst" "2.06439E-5" "01943" "PCNT_000542" "g.47852090G>A" "" "" "" "PCNT(NM_006031.5):c.8712G>A (p.A2904=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866714" "0" "30" "21" "47858079" "47858079" "subst" "1.62692E-5" "01804" "PCNT_000543" "g.47858079A>G" "" "" "" "PCNT(NM_006031.5):c.9102A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895563" "0" "50" "21" "47771443" "47771443" "subst" "4.06349E-6" "01804" "PCNT_000544" "g.47771443A>G" "" "" "" "PCNT(NM_006031.5):c.1445A>G (p.(Gln482Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895564" "0" "30" "21" "47783487" "47783487" "subst" "0.000227433" "01804" "PCNT_000545" "g.47783487A>C" "" "" "" "PCNT(NM_006031.5):c.2247A>C (p.(Glu749Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895565" "0" "30" "21" "47817184" "47817184" "subst" "0.000288968" "01804" "PCNT_000546" "g.47817184C>T" "" "" "" "PCNT(NM_006031.5):c.4222C>T (p.(Arg1408Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895566" "0" "30" "21" "47819588" "47819588" "subst" "4.46697E-5" "01804" "PCNT_000547" "g.47819588G>A" "" "" "" "PCNT(NM_006031.5):c.4669G>A (p.(Val1557Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895567" "0" "30" "21" "47822322" "47822322" "subst" "4.06068E-5" "01804" "PCNT_000548" "g.47822322C>G" "" "" "" "PCNT(NM_006031.5):c.5040C>G (p.(Asn1680Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895568" "0" "30" "21" "47836463" "47836463" "subst" "2.85156E-5" "01804" "PCNT_000549" "g.47836463C>T" "" "" "" "PCNT(NM_006031.5):c.6631C>T (p.(Pro2211Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915475" "0" "50" "21" "47783581" "47783581" "subst" "8.12163E-6" "01804" "PCNT_000550" "g.47783581G>A" "" "" "" "PCNT(NM_006031.5):c.2341G>A (p.(Glu781Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915476" "0" "30" "21" "47822309" "47822309" "subst" "0.0002477" "01804" "PCNT_000551" "g.47822309T>C" "" "" "" "PCNT(NM_006031.5):c.5027T>C (p.(Ile1676Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915477" "0" "30" "21" "47851668" "47851668" "subst" "2.87819E-5" "01804" "PCNT_000552" "g.47851668G>C" "" "" "" "PCNT(NM_001315529.1):c.7936G>C (p.(Glu2646Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915478" "0" "30" "21" "47864633" "47864633" "subst" "9.34041E-5" "01804" "PCNT_000473" "g.47864633T>C" "" "" "" "PCNT(NM_001315529.1):c.9275T>C (p.(Leu3092Ser)), PCNT(NM_006031.5):c.9866T>C (p.L3289S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927105" "0" "30" "21" "47817247" "47817247" "subst" "0.00386916" "02326" "PCNT_000252" "g.47817247C>T" "" "" "" "PCNT(NM_001315529.1):c.3931C>T (p.(Arg1311Cys)), PCNT(NM_006031.5):c.4285C>T (p.R1429C), PCNT(NM_006031.6):c.4285C>T (p.R1429C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931235" "0" "30" "21" "47831770" "47831770" "subst" "0" "01804" "PCNT_000553" "g.47831770G>A" "" "" "" "PCNT(NM_001315529.1):c.5429G>A (p.(Arg1810His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931236" "0" "30" "21" "47863822" "47863822" "subst" "0.000167608" "01804" "PCNT_000554" "g.47863822G>A" "" "" "" "PCNT(NM_001315529.1):c.9209G>A (p.(Arg3070His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951526" "0" "30" "21" "47783768" "47783768" "subst" "8.25123E-5" "01804" "PCNT_000555" "g.47783768C>T" "" "" "" "PCNT(NM_001315529.1):c.2174C>T (p.(Pro725Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951527" "0" "30" "21" "47831694" "47831694" "subst" "0.00105786" "01804" "PCNT_000480" "g.47831694C>T" "" "" "" "PCNT(NM_001315529.1):c.5353C>T (p.(Arg1785Cys)), PCNT(NM_006031.5):c.5707C>T (p.R1903C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951528" "0" "30" "21" "47831695" "47831695" "subst" "0.00102519" "01804" "PCNT_000481" "g.47831695G>T" "" "" "" "PCNT(NM_001315529.1):c.5354G>T (p.(Arg1785Leu)), PCNT(NM_006031.5):c.5708G>T (p.R1903L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951529" "0" "30" "21" "47836142" "47836142" "subst" "4.06062E-6" "01804" "PCNT_000300" "g.47836142C>T" "" "" "" "PCNT(NM_001315529.1):c.5956C>T (p.(His1986Tyr)), PCNT(NM_006031.5):c.6310C>T (p.H2104Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951530" "0" "30" "21" "47863823" "47863823" "subst" "0" "01804" "PCNT_000556" "g.47863823C>T" "" "" "" "PCNT(NM_001315529.1):c.9210C>T (p.(Arg3070=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984060" "0" "50" "21" "47746375" "47746375" "subst" "5.68496E-5" "01804" "C21orf58_000015" "g.47746375G>C" "" "" "" "PCNT(NM_006031.6):c.139G>C (p.(Asp47His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984061" "0" "50" "21" "47746498" "47746498" "subst" "8.1275E-5" "01804" "C21orf58_000016" "g.47746498G>A" "" "" "" "PCNT(NM_006031.6):c.262G>A (p.(Ala88Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984062" "0" "50" "21" "47746506" "47746506" "subst" "2.84523E-5" "01804" "C21orf58_000017" "g.47746506A>G" "" "" "" "PCNT(NM_006031.6):c.267+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984063" "0" "30" "21" "47775544" "47775544" "subst" "0" "01804" "PCNT_000557" "g.47775544G>T" "" "" "" "PCNT(NM_006031.6):c.1936+3G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984064" "0" "50" "21" "47801602" "47801602" "subst" "0" "01804" "PCNT_000558" "g.47801602T>G" "" "" "" "PCNT(NM_006031.6):c.3166-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984065" "0" "50" "21" "47817943" "47817943" "subst" "0" "01804" "PCNT_000559" "g.47817943C>T" "" "" "" "PCNT(NM_006031.6):c.4462C>T (p.(Arg1488Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984066" "0" "50" "21" "47817952" "47817952" "subst" "0" "01804" "PCNT_000560" "g.47817952G>T" "" "" "" "PCNT(NM_006031.6):c.4471G>T (p.(Glu1491Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984067" "0" "30" "21" "47818143" "47818143" "subst" "0" "01804" "PCNT_000561" "g.47818143C>T" "" "" "" "PCNT(NM_006031.6):c.4564-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984068" "0" "10" "21" "47831621" "47831621" "subst" "0.0456727" "01804" "PCNT_000274" "g.47831621C>T" "" "" "" "PCNT(NM_006031.5):c.5634C>T (p.D1878=), PCNT(NM_006031.6):c.5634C>T (p.(Asp1878=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000984069" "0" "50" "21" "47832776" "47832776" "subst" "2.85889E-5" "01804" "PCNT_000524" "g.47832776C>T" "" "" "" "PCNT(NM_006031.5):c.6020C>T (p.T2007M), PCNT(NM_006031.6):c.6020C>T (p.(Thr2007Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984070" "0" "10" "21" "47841933" "47841933" "subst" "0.0460251" "01804" "PCNT_000324" "g.47841933T>C" "" "" "" "PCNT(NM_006031.5):c.7074T>C (p.P2358=), PCNT(NM_006031.6):c.7074T>C (p.(Pro2358=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000984071" "0" "10" "21" "47847700" "47847700" "subst" "0.0431764" "01804" "PCNT_000334" "g.47847700C>T" "" "" "" "PCNT(NM_006031.5):c.7485C>T (p.I2495=), PCNT(NM_006031.6):c.7485C>T (p.(Ile2495=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000984072" "0" "10" "21" "47848350" "47848350" "subst" "0.0459278" "01804" "PCNT_000336" "g.47848350G>A" "" "" "" "PCNT(NM_006031.5):c.7536G>A (p.P2512=), PCNT(NM_006031.6):c.7536G>A (p.(Pro2512=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000984073" "0" "70" "21" "47852058" "47852067" "del" "0" "01804" "PCNT_000562" "g.47852058_47852067del" "" "" "" "PCNT(NM_006031.6):c.8680_8689del (p.(Ser2894Profs*24))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984074" "0" "50" "21" "47856959" "47856959" "subst" "8.12394E-6" "01804" "PCNT_000563" "g.47856959C>G" "" "" "" "PCNT(NM_006031.5):c.9064C>G (p.(Leu3022Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984075" "0" "50" "21" "47858194" "47858194" "subst" "8.93394E-5" "01804" "PCNT_000491" "g.47858194G>A" "" "" "" "PCNT(NM_006031.5):c.9217G>A (p.V3073M), PCNT(NM_006031.6):c.9217G>A (p.(Val3073Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005854" "0" "30" "21" "47746393" "47746395" "del" "0" "01804" "C21orf58_000020" "g.47746393_47746395del" "" "" "" "PCNT(NM_006031.5):c.157_159delGAG (p.(Glu53del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005855" "0" "50" "21" "47766090" "47766090" "subst" "0.000158374" "01804" "PCNT_000564" "g.47766090C>T" "" "" "" "PCNT(NM_006031.5):c.688C>T (p.(Arg230Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005856" "0" "30" "21" "47821621" "47821621" "subst" "6.91906E-5" "01804" "PCNT_000565" "g.47821621C>T" "" "" "" "PCNT(NM_006031.5):c.4948C>T (p.(Arg1650Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005857" "0" "30" "21" "47831667" "47831667" "subst" "0.000110598" "01804" "PCNT_000566" "g.47831667G>A" "" "" "" "PCNT(NM_006031.5):c.5680G>A (p.(Val1894Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005858" "0" "30" "21" "47841917" "47841917" "subst" "6.49878E-5" "01804" "PCNT_000567" "g.47841917C>G" "" "" "" "PCNT(NM_006031.5):c.7058C>G (p.(Pro2353Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005859" "0" "30" "21" "47845865" "47845865" "subst" "4.87318E-5" "01804" "PCNT_000568" "g.47845865C>A" "" "" "" "PCNT(NM_006031.5):c.7300C>A (p.(Leu2434Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005860" "0" "50" "21" "47847548" "47847548" "subst" "1.21862E-5" "01804" "PCNT_000569" "g.47847548G>A" "" "" "" "PCNT(NM_006031.5):c.7333G>A (p.(Ala2445Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005861" "0" "30" "21" "47850005" "47850005" "subst" "0" "01804" "PCNT_000570" "g.47850005A>G" "" "" "" "PCNT(NM_006031.5):c.7772A>G (p.(Lys2591Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005862" "0" "50" "21" "47851638" "47851638" "subst" "7.44608E-5" "01804" "PCNT_000571" "g.47851638A>G" "" "" "" "PCNT(NM_006031.5):c.8260A>G (p.(Thr2754Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005863" "0" "50" "21" "47851954" "47851954" "subst" "0" "01804" "PCNT_000572" "g.47851954G>C" "" "" "" "PCNT(NM_006031.5):c.8576G>C (p.(Cys2859Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005864" "0" "30" "21" "47855959" "47855959" "subst" "3.68267E-5" "01804" "PCNT_000573" "g.47855959C>T" "" "" "" "PCNT(NM_006031.5):c.8894C>T (p.(Ala2965Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005865" "0" "50" "21" "47860019" "47860019" "subst" "0" "01804" "PCNT_000574" "g.47860019G>T" "" "" "" "PCNT(NM_006031.5):c.9297G>T (p.(Lys3099Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005866" "0" "50" "21" "47860020" "47860020" "subst" "0" "01804" "PCNT_000575" "g.47860020C>T" "" "" "" "PCNT(NM_006031.5):c.9298C>T (p.(Pro3100Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001021109" "3" "90" "21" "47786998" "47786998" "subst" "0" "00006" "PCNT_000003" "g.47786998G>T" "" "{PMID:Rauch 2008:18174396}" "" "" "" "Germline" "" "" "0" "" "" "g.46367083G>T" "" "pathogenic (recessive)" "" "0001021110" "3" "90" "21" "47838034" "47841315" "del" "0" "00006" "PCNT_000602" "g.47838034_47841315del" "" "{PMID:Rauch 2008:18174396}" "" "IVS30-84_IVS31-569del" "" "Germline" "" "" "0" "" "" "g.46418120_46421401del" "" "pathogenic (recessive)" "" "0001021111" "3" "90" "21" "47831754" "47831754" "subst" "6.29073E-6" "00006" "PCNT_000520" "g.47831754C>T" "" "{PMID:Rauch 2008:18174396}" "" "" "" "Germline" "" "" "0" "" "" "g.46411840C>T" "" "pathogenic (recessive)" "" "0001021112" "3" "90" "21" "47831754" "47831754" "subst" "6.29073E-6" "00006" "PCNT_000520" "g.47831754C>T" "" "{PMID:Rauch 2008:18174396}" "" "" "" "Germline" "" "" "0" "" "" "g.46411840C>T" "" "pathogenic (recessive)" "" "0001021113" "1" "90" "21" "47776888" "47776888" "subst" "1.62566E-5" "00006" "PCNT_000590" "g.47776888G>C" "" "{PMID:Rauch 2008:18174396}" "" "IVS12-1G>C" "" "Germline" "" "" "0" "" "" "g.46356973G>C" "" "pathogenic (recessive)" "" "0001021114" "3" "90" "21" "47836161" "47836161" "subst" "0" "00006" "PCNT_000599" "g.47836161G>A" "" "{PMID:Rauch 2008:18174396}" "" "" "" "Germline" "" "" "0" "" "" "g.46416247G>A" "" "pathogenic (recessive)" "" "0001021115" "3" "90" "21" "47821486" "47821486" "subst" "0" "00006" "PCNT_000595" "g.47821486C>T" "" "{PMID:Rauch 2008:18174396}" "" "7813C>T (Q1605X)" "" "Germline" "" "" "0" "" "" "g.46401572C>T" "" "pathogenic (recessive)" "" "0001021116" "3" "90" "21" "47848505" "47848505" "subst" "0" "00006" "PCNT_000603" "g.47848505G>A" "" "{PMID:Rauch 2008:18174396}" "" "IVS35+1G>A" "" "Germline" "" "" "0" "" "" "g.46428591G>A" "" "pathogenic (recessive)" "" "0001021117" "1" "90" "21" "47773900" "47773900" "subst" "0" "00006" "PCNT_000589" "g.47773900G>C" "" "{PMID:Rauch 2008:18174396}" "" "IVS10-1G>C" "" "Germline" "" "" "0" "" "" "g.46353986G>C" "" "pathogenic (recessive)" "" "0001021118" "3" "90" "21" "47769726" "47769726" "subst" "0" "00006" "PCNT_000586" "g.47769726C>T" "" "{PMID:Rauch 2008:18174396}" "" "" "" "Germline" "" "" "0" "" "" "g.46349812C>T" "" "pathogenic (recessive)" "" "0001021119" "3" "90" "21" "47766780" "47766780" "dup" "0" "00006" "PCNT_000582" "g.47766780dup" "" "{PMID:Rauch 2008:18174396}" "" "841_842insG" "" "Germline" "" "" "0" "" "" "g.46346866dup" "" "pathogenic (recessive)" "" "0001021120" "1" "90" "21" "47754409" "47754412" "del" "0" "00006" "PCNT_000580" "g.47754409_47754412del" "" "{PMID:Rauch 2008:18174396}" "" "366_369delCAGT" "" "Germline" "" "" "0" "" "" "g.46334495_46334498del" "" "pathogenic (recessive)" "" "0001021121" "3" "90" "21" "47766780" "47766780" "dup" "0" "00006" "PCNT_000582" "g.47766780dup" "" "{PMID:Rauch 2008:18174396}" "" "841_842insG" "" "Germline" "" "" "0" "" "" "g.46346866dup" "" "pathogenic (recessive)" "" "0001021122" "3" "90" "21" "47786873" "47786883" "del" "0" "00006" "PCNT_000592" "g.47786873_47786883del" "" "{PMID:Rauch 2008:18174396}" "" "2980_2992delGAGCAGACTTT (R994fsX1053)" "" "Germline" "" "" "0" "" "" "g.46366958_46366968del" "" "pathogenic (recessive)" "" "0001021123" "3" "90" "21" "47855817" "47855817" "subst" "0" "00006" "PCNT_000604" "g.47855817C>T" "" "{PMID:Rauch 2008:18174396}" "" "" "" "Germline" "" "" "0" "" "" "g.46435904C>T" "" "pathogenic (recessive)" "" "0001021124" "3" "90" "21" "47855817" "47855817" "subst" "0" "00006" "PCNT_000604" "g.47855817C>T" "" "{PMID:Rauch 2008:18174396}" "" "" "" "Germline" "" "" "0" "" "" "g.46435904C>T" "" "pathogenic (recessive)" "" "0001021125" "3" "90" "21" "47768935" "47768935" "subst" "0" "00006" "PCNT_000584" "g.47768935G>T" "" "{PMID:Rauch 2008:18174396}" "" "" "" "Germline" "" "" "0" "" "" "g.46349021G>T" "" "pathogenic (recessive)" "" "0001021126" "3" "90" "21" "47822258" "47822262" "del" "0" "00006" "PCNT_000596" "g.47822258_47822262del" "" "{PMID:Rauch 2008:18174396}" "" "4974_4978delAAAAG" "" "Germline" "" "" "0" "" "" "g.46402344_46402348del" "" "pathogenic (recessive)" "" "0001021127" "3" "90" "21" "47836543" "47836543" "del" "0" "00006" "PCNT_000601" "g.47836543del" "" "{PMID:Rauch 2008:18174396}" "" "6711delG" "" "Germline" "" "" "0" "" "" "g.46416629del" "" "pathogenic (recessive)" "" "0001021128" "1" "90" "21" "47754648" "47754648" "del" "0" "00006" "PCNT_000581" "g.47754648del" "" "{PMID:Rauch 2008:18174396}" "" "" "" "Germline" "" "" "0" "" "" "g.46334734del" "" "pathogenic (recessive)" "" "0001021129" "3" "90" "21" "47836216" "47836217" "del" "0" "00006" "PCNT_000600" "g.47836216_47836217del" "" "{PMID:Rauch 2008:18174396}" "" "234_235delAT (T2128fsX2129)" "" "Germline" "" "" "0" "" "" "g.46416302_46416303del" "" "pathogenic (recessive)" "" "0001021130" "3" "90" "21" "47786908" "47786909" "del" "0" "00006" "PCNT_000593" "g.47786908_47786909del" "" "{PMID:Rauch 2008:18174396}" "" "3015_3016delCT" "" "Germline" "" "" "0" "" "" "g.46366993_46366994del" "" "pathogenic (recessive)" "" "0001021131" "3" "90" "21" "47771386" "47771386" "subst" "8.12216E-6" "00006" "PCNT_000588" "g.47771386C>G" "" "{PMID:Rauch 2008:18174396}" "" "" "" "Germline" "" "" "0" "" "" "g.46351472C>G" "" "pathogenic (recessive)" "" "0001021132" "1" "90" "21" "47831979" "47831979" "subst" "1.29949E-5" "00006" "PCNT_000598" "g.47831979C>T" "" "{PMID:Rauch 2008:18174396}" "" "" "" "Germline" "" "" "0" "" "" "g.46412065C>T" "" "pathogenic (recessive)" "" "0001021133" "1" "90" "21" "47766822" "47766822" "subst" "0" "00006" "PCNT_000583" "g.47766822C>T" "" "{PMID:Rauch 2008:18174396}" "" "" "" "Germline" "" "" "0" "" "" "g.46346908C>T" "" "pathogenic (recessive)" "" "0001021134" "1" "90" "21" "47769597" "47769597" "subst" "0" "00006" "PCNT_000585" "g.47769597G>A" "" "{PMID:Rauch 2008:18174396}" "" "IVS8-1G>A" "" "Germline" "" "" "0" "" "" "g.46349683G>A" "" "pathogenic (recessive)" "" "0001021135" "2" "90" "21" "47855911" "47855911" "del" "0" "00006" "PCNT_000605" "g.47855911del" "" "{PMID:Rauch 2008:18174396}" "" "8846delG" "" "Germline" "" "" "0" "" "" "g.46435998del" "" "pathogenic (recessive)" "" "0001021136" "2" "90" "21" "47831352" "47831352" "subst" "4.14168E-6" "00006" "PCNT_000597" "g.47831352C>T" "" "{PMID:Rauch 2008:18174396}" "" "" "" "Germline" "" "" "0" "" "" "g.46411438C>T" "" "pathogenic (recessive)" "" "0001021137" "2" "90" "21" "47818023" "47818023" "del" "0" "00006" "PCNT_000594" "g.47818023del" "" "{PMID:Rauch 2008:18174396}" "" "4542delC" "" "Germline" "" "" "0" "" "" "g.46398109del" "" "pathogenic (recessive)" "" "0001021138" "2" "90" "21" "47856973" "47856973" "del" "4.06273E-6" "00006" "PCNT_000464" "g.47856973del" "" "{PMID:Rauch 2008:18174396}" "" "9078delG" "" "Germline" "" "" "0" "" "" "g.46437060del" "" "pathogenic (recessive)" "" "0001021139" "2" "90" "21" "47860038" "47860038" "subst" "0" "00006" "PCNT_000606" "g.47860038C>T" "" "{PMID:Rauch 2008:18174396}" "" "" "" "Germline" "" "" "0" "" "" "g.46440125C>T" "" "pathogenic (recessive)" "" "0001021140" "2" "90" "21" "47769739" "47769739" "subst" "0" "00006" "PCNT_000587" "g.47769739G>A" "" "{PMID:Rauch 2008:18174396}" "" "IVS9+5G>A" "" "Germline" "" "" "0" "" "" "g.46349825G>A" "" "pathogenic (recessive)" "" "0001021141" "2" "90" "21" "47783587" "47783587" "dup" "0" "00006" "PCNT_000591" "g.47783587dup" "" "{PMID:Rauch 2008:18174396}" "" "2346insC (Q789fsX796)" "" "Germline" "" "" "0" "" "" "g.46363672dup" "" "pathogenic (recessive)" "" "0001021142" "21" "90" "21" "47860834" "47860836" "del" "0" "00006" "PCNT_000576" "g.47860834_47860836del" "" "{PMID:Kantaputra 2011:21567919}" "" "9460_9462delAAG" "" "Germline" "yes" "" "0" "" "" "g.46440921_46440923del" "" "pathogenic (recessive)" "" "0001021143" "11" "90" "21" "47831754" "47831754" "subst" "6.29073E-6" "00006" "PCNT_000520" "g.47831754C>T" "" "{PMID:Kantaputra 2011:21567919}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46411840C>T" "" "pathogenic (recessive)" "" "0001021144" "3" "90" "21" "47805894" "47805894" "subst" "0" "00006" "PCNT_000577" "g.47805894G>T" "" "{PMID:Kantaputra 2011:21567919}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46385979G>T" "" "pathogenic (recessive)" "" "0001021146" "3" "90" "21" "47773089" "47773089" "dup" "0" "00006" "PCNT_000578" "g.47773089dup" "" "{PMID:Piane 2009:19839044}" "" "1527_1528insA" "" "Germline" "" "" "0" "" "" "g.46353175dup" "" "pathogenic (recessive)" "" "0001021147" "3" "90" "21" "47808656" "47808656" "subst" "1.62937E-5" "00006" "PCNT_000579" "g.47808656G>A" "" "{PMID:Weiss 2020:30922925}" "" "" "" "Germline" "" "" "0" "" "" "g.46388741G>A" "" "pathogenic (recessive)" "" "0001021148" "3" "90" "21" "47808656" "47808656" "subst" "1.62937E-5" "00006" "PCNT_000579" "g.47808656G>A" "" "{PMID:Weiss 2020:30922925}" "" "" "" "Germline" "" "" "0" "" "" "g.46388741G>A" "" "pathogenic (recessive)" "" "0001027353" "0" "50" "21" "47754471" "47754471" "subst" "0" "01943" "PCNT_000607" "g.47754471G>A" "" "" "" "PCNT(NM_006031.5):c.428G>A (p.R143H), PCNT(NM_006031.6):c.428G>A (p.(Arg143His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027354" "0" "50" "21" "47754548" "47754548" "subst" "4.46784E-5" "01943" "PCNT_000192" "g.47754548C>T" "" "" "" "PCNT(NM_006031.5):c.505C>T (p.R169C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027355" "0" "50" "21" "47831985" "47831985" "subst" "0.000100089" "01943" "PCNT_000289" "g.47831985G>A" "" "" "" "PCNT(NM_006031.5):c.5994+4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027356" "0" "30" "21" "47836411" "47836411" "subst" "0.00868855" "01943" "PCNT_000608" "g.47836411G>A" "" "" "" "PCNT(NM_006031.5):c.6579G>A (p.P2193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027357" "0" "50" "21" "47836466" "47836466" "subst" "0.00551099" "01943" "PCNT_000440" "g.47836466C>T" "" "" "" "PCNT(NM_001315529.1):c.6280C>T (p.(Arg2094Trp)), PCNT(NM_006031.5):c.6634C>T (p.R2212W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027358" "0" "30" "21" "47838153" "47838153" "subst" "0.00175484" "01943" "PCNT_000320" "g.47838153T>G" "" "" "" "PCNT(NM_001315529.1):c.6603T>G (p.(Phe2201Leu)), PCNT(NM_006031.5):c.6957T>G (p.F2319L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027359" "0" "50" "21" "47838182" "47838182" "subst" "0.00282743" "01943" "PCNT_000321" "g.47838182C>G" "" "" "" "PCNT(NM_001315529.1):c.6632C>G (p.(Pro2211Arg)), PCNT(NM_006031.5):c.6986C>G (p.P2329R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027360" "0" "50" "21" "47855874" "47855874" "subst" "3.25322E-5" "01943" "PCNT_000609" "g.47855874A>T" "" "" "" "PCNT(NM_006031.5):c.8809A>T (p.T2937S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027361" "0" "50" "21" "47855989" "47855989" "subst" "0.00283417" "01943" "PCNT_000371" "g.47855989T>C" "" "" "" "PCNT(NM_001315529.1):c.8333T>C (p.(Leu2778Pro)), PCNT(NM_006031.5):c.8924T>C (p.L2975P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043675" "0" "30" "21" "47754471" "47754471" "subst" "0" "01804" "PCNT_000607" "g.47754471G>A" "" "" "" "PCNT(NM_006031.5):c.428G>A (p.R143H), PCNT(NM_006031.6):c.428G>A (p.(Arg143His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043676" "0" "30" "21" "47773898" "47773898" "subst" "0" "01804" "PCNT_000610" "g.47773898C>T" "" "" "" "PCNT(NM_006031.6):c.1680-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043677" "0" "30" "21" "47773992" "47773992" "subst" "8.13074E-6" "01804" "PCNT_000611" "g.47773992C>T" "" "" "" "PCNT(NM_006031.6):c.1761+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043678" "0" "30" "21" "47818172" "47818178" "delins" "0" "01804" "PCNT_000612" "g.47818172_47818178delinsAAGGAGT" "" "" "" "PCNT(NM_006031.6):c.4584+3_4584+9delinsAAGGAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043679" "0" "30" "21" "47855814" "47855814" "subst" "0" "01804" "PCNT_000613" "g.47855814C>T" "" "" "" "PCNT(NM_006031.6):c.8752-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043680" "0" "50" "21" "47863842" "47863842" "del" "6.53851E-5" "01804" "PCNT_000614" "g.47863842del" "" "" "" "PCNT(NM_006031.6):c.9820del (p.(Ser3274Profs*16))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043681" "0" "30" "21" "47865194" "47865194" "subst" "0.00030498" "01804" "PCNT_000615" "g.47865194C>T" "" "" "" "PCNT(NM_006031.6):c.9968-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PCNT ## Count = 532 "{{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}}" "0000022844" "00015829" "95" "196" "0" "196" "0" "c.196G>T" "r.(?)" "p.(Gly66*)" "2" "0000130149" "00015829" "90" "658" "0" "658" "0" "c.658G>T" "r.(?)" "p.(Glu220*)" "" "0000184485" "00015829" "95" "658" "0" "658" "0" "c.658G>T" "r.(?)" "p.(Glu220*)" "4" "0000184486" "00015829" "95" "658" "0" "658" "0" "c.658G>T" "r.(?)" "p.(Glu220*)" "4" "0000184487" "00015829" "95" "1753" "0" "1753" "0" "c.1753C>T" "r.(?)" "p.(Arg585*)" "11" "0000184488" "00015829" "95" "1887" "0" "1887" "0" "c.1887del" "r.(?)" "p.(Ala630Hisfs*66)" "12" "0000184489" "00015829" "95" "2326" "0" "2327" "0" "c.2326_2327del" "r.(?)" "p.(Glu776Lysfs*3)" "14" "0000184490" "00015829" "95" "3109" "0" "3109" "0" "c.3109G>T" "r.(?)" "p.(Glu1037*)" "15" "0000184491" "00015829" "95" "3271" "0" "3272" "0" "c.3271_3272del" "r.(?)" "p.(Leu1091Valfs*102)" "16" "0000184492" "00015829" "95" "3382" "0" "3382" "0" "c.3382C>G" "r.(?)" "p.(Gln1128Glu )" "17" "0000184493" "00015829" "95" "3568" "0" "3568" "0" "c.3568dup" "r.(?)" "p.(Cys1190Leufs*4)" "18" "0000184494" "00015829" "55" "3608" "-2" "3608" "-2" "c.3608-2A>G" "r.spl?" "p.(?)" "18i" "0000184495" "00015829" "90" "3840" "0" "3840" "0" "c.3840G>C" "r.(3608_3840del)" "p.(Pro1204Glyfs11)" "19" "0000184496" "00015829" "95" "5266" "0" "5266" "0" "c.5266dup" "r.(?)" "p.(Met1756Asnfs*53)" "28" "0000184497" "00015829" "95" "5578" "0" "5578" "0" "c.5578G>T" "r.(?)" "p.(Glu1860*)" "28" "0000184498" "00015829" "95" "6179" "0" "6192" "0" "c.6179_6192del" "r.(?)" "p.(Gln2060Argfs*48)" "30" "0000184499" "00015829" "90" "6316" "0" "6326" "0" "c.6316_6326del" "r.(?)" "p.(Ser2108*)" "30" "0000184500" "00015829" "95" "7338" "0" "7338" "0" "c.7338C>A" "r.(?)" "p.(Cys2446*)" "34" "0000184501" "00015829" "55" "9099" "2" "9099" "2" "c.9099+2T>C" "r.spl?" "p.(?)" "40i" "0000248002" "00015829" "10" "8375" "0" "8375" "0" "c.8375A>G" "r.(?)" "p.(Gln2792Arg)" "" "0000248004" "00015829" "10" "9735" "0" "9735" "0" "c.9735A>C" "r.(?)" "p.(Arg3245Ser)" "" "0000248058" "00015829" "30" "6384" "0" "6384" "0" "c.6384A>G" "r.(?)" "p.(Thr2128=)" "" "0000248064" "00015829" "30" "8752" "-5" "8752" "-5" "c.8752-5A>C" "r.spl?" "p.?" "" "0000253263" "00015829" "10" "8375" "0" "8375" "0" "c.8375A>G" "r.(?)" "p.(Gln2792Arg)" "" "0000253265" "00015829" "10" "9735" "0" "9735" "0" "c.9735A>C" "r.(?)" "p.(Arg3245Ser)" "" "0000253319" "00015829" "10" "6384" "0" "6384" "0" "c.6384A>G" "r.(?)" "p.(Thr2128=)" "" "0000253325" "00015829" "10" "8752" "-5" "8752" "-5" "c.8752-5A>C" "r.spl?" "p.?" "" "0000253504" "00015829" "10" "498" "0" "498" "0" "c.498A>G" "r.(?)" "p.(Pro166=)" "" "0000253545" "00015829" "10" "467" "0" "467" "0" "c.467A>G" "r.(?)" "p.(His156Arg)" "" "0000253546" "00015829" "10" "6374" "0" "6374" "0" "c.6374A>C" "r.(?)" "p.(His2125Pro)" "" "0000253556" "00015829" "10" "4915" "0" "4915" "0" "c.4915A>G" "r.(?)" "p.(Ile1639Val)" "" "0000253558" "00015829" "10" "520" "0" "520" "0" "c.520A>G" "r.(?)" "p.(Ile174Val)" "" "0000253584" "00015829" "10" "6927" "0" "6927" "0" "c.6927A>G" "r.(?)" "p.(Lys2309=)" "" "0000253639" "00015829" "10" "5522" "0" "5522" "0" "c.5522A>G" "r.(?)" "p.(Asn1841Ser)" "" "0000253662" "00015829" "10" "7082" "0" "7082" "0" "c.7082A>G" "r.(?)" "p.(Gln2361Arg)" "" "0000253698" "00015829" "10" "8811" "0" "8811" "0" "c.8811A>G" "r.(?)" "p.(Thr2937=)" "" "0000253705" "00015829" "10" "2635" "0" "2635" "0" "c.2635A>G" "r.(?)" "p.(Thr879Ala)" "" "0000254382" "00015829" "30" "1914" "0" "1914" "0" "c.1914A>C" "r.(?)" "p.(Glu638Asp)" "" "0000254619" "00015829" "30" "2033" "0" "2033" "0" "c.2033A>G" "r.(?)" "p.(Lys678Arg)" "" "0000254717" "00015829" "30" "4675" "0" "4675" "0" "c.4675A>T" "r.(?)" "p.(Met1559Leu)" "" "0000254744" "00015829" "30" "2308" "0" "2308" "0" "c.2308A>G" "r.(?)" "p.(Met770Val)" "" "0000254904" "00015829" "30" "6080" "0" "6080" "0" "c.6080A>G" "r.(?)" "p.(Gln2027Arg)" "" "0000254996" "00015829" "30" "9271" "0" "9271" "0" "c.9271A>G" "r.(?)" "p.(Ser3091Gly)" "" "0000255841" "00015829" "50" "1935" "0" "1935" "0" "c.1935A>G" "r.(?)" "p.(Gln645=)" "" "0000256544" "00015829" "10" "6616" "0" "6616" "0" "c.6616A>G" "r.(?)" "p.(Thr2206Ala)" "" "0000296805" "00015829" "30" "1519" "0" "1519" "0" "c.1519C>G" "r.(?)" "p.(Arg507Gly)" "" "0000296806" "00015829" "10" "1542" "0" "1542" "0" "c.1542C>A" "r.(?)" "p.(Ser514=)" "" "0000296807" "00015829" "10" "2111" "0" "2111" "0" "c.2111G>A" "r.(?)" "p.(Gly704Glu)" "" "0000296808" "00015829" "10" "2556" "0" "2556" "0" "c.2556T>C" "r.(?)" "p.(Ala852=)" "" "0000296809" "00015829" "10" "2610" "-5" "2610" "-5" "c.2610-5C>T" "r.spl?" "p.?" "" "0000296810" "00015829" "10" "2928" "0" "2928" "0" "c.2928C>G" "r.(?)" "p.(Leu976=)" "" "0000296811" "00015829" "10" "3113" "0" "3113" "0" "c.3113T>C" "r.(?)" "p.(Val1038Ala)" "" "0000296812" "00015829" "10" "3339" "0" "3339" "0" "c.3339T>C" "r.(?)" "p.(Ser1113=)" "" "0000296813" "00015829" "30" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Gly136Ser)" "" "0000296814" "00015829" "30" "4345" "0" "4345" "0" "c.4345C>G" "r.(?)" "p.(Gln1449Glu)" "" "0000296815" "00015829" "30" "467" "0" "505" "0" "c.467_505del" "r.(?)" "p.(His156_Gln168del)" "" "0000296817" "00015829" "30" "4879" "0" "4879" "0" "c.4879G>A" "r.(?)" "p.(Glu1627Lys)" "" "0000296818" "00015829" "30" "591" "0" "591" "0" "c.591C>G" "r.(?)" "p.(Ile197Met)" "" "0000296819" "00015829" "30" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Arg208His)" "" "0000296820" "00015829" "50" "6719" "0" "6719" "0" "c.6719C>G" "r.(?)" "p.(Pro2240Arg)" "" "0000296821" "00015829" "10" "6821" "0" "6821" "0" "c.6821C>T" "r.(?)" "p.(Pro2274Leu)" "" "0000296823" "00015829" "10" "720" "17" "720" "17" "c.720+17T>C" "r.(=)" "p.(=)" "" "0000296824" "00015829" "10" "721" "-7" "721" "-7" "c.721-7G>A" "r.(=)" "p.(=)" "" "0000296825" "00015829" "10" "7914" "-16" "7914" "-16" "c.7914-16C>T" "r.(=)" "p.(=)" "" "0000296826" "00015829" "10" "7977" "0" "7977" "0" "c.7977G>C" "r.(?)" "p.(Gln2659His)" "" "0000298804" "00015829" "90" "2407" "0" "2407" "0" "c.2407C>T" "r.(?)" "p.(Gln803Ter)" "" "0000300667" "00015829" "30" "8671" "0" "8671" "0" "c.8671G>A" "r.(?)" "p.(Ala2891Thr)" "" "0000305162" "00015829" "10" "-16" "0" "-16" "0" "c.-16G>T" "r.(?)" "p.(=)" "" "0000305163" "00015829" "10" "1542" "0" "1542" "0" "c.1542C>A" "r.(?)" "p.(Ser514=)" "" "0000305164" "00015829" "30" "1590" "0" "1590" "0" "c.1590T>C" "r.(?)" "p.(Ala530=)" "" "0000305165" "00015829" "10" "1616" "0" "1616" "0" "c.1616C>T" "r.(?)" "p.(Thr539Ile)" "" "0000305166" "00015829" "30" "1784" "0" "1784" "0" "c.1784C>T" "r.(?)" "p.(Ala595Val)" "" "0000305167" "00015829" "30" "1936" "18" "1936" "18" "c.1936+18C>T" "r.(=)" "p.(=)" "" "0000305168" "00015829" "50" "2062" "0" "2062" "0" "c.2062C>T" "r.(?)" "p.(Leu688Phe)" "" "0000305169" "00015829" "10" "2111" "0" "2111" "0" "c.2111G>A" "r.(?)" "p.(Gly704Glu)" "" "0000305170" "00015829" "30" "2155" "-6" "2155" "-6" "c.2155-6C>T" "r.(=)" "p.(=)" "" "0000305171" "00015829" "30" "2272" "0" "2272" "0" "c.2272G>A" "r.(?)" "p.(Glu758Lys)" "" "0000305172" "00015829" "10" "2415" "0" "2415" "0" "c.2415C>G" "r.(?)" "p.(Ala805=)" "" "0000305173" "00015829" "30" "247" "0" "247" "0" "c.247G>C" "r.(?)" "p.(Gly83Arg)" "" "0000305174" "00015829" "10" "2556" "0" "2556" "0" "c.2556T>C" "r.(?)" "p.(Ala852=)" "" "0000305175" "00015829" "10" "2610" "-5" "2610" "-5" "c.2610-5C>T" "r.spl?" "p.?" "" "0000305176" "00015829" "50" "2833" "0" "2833" "0" "c.2833C>T" "r.(?)" "p.(Arg945Cys)" "" "0000305177" "00015829" "30" "2834" "0" "2834" "0" "c.2834G>A" "r.(?)" "p.(Arg945His)" "" "0000305178" "00015829" "10" "2928" "0" "2928" "0" "c.2928C>G" "r.(?)" "p.(Leu976=)" "" "0000305179" "00015829" "30" "3092" "0" "3092" "0" "c.3092G>A" "r.(?)" "p.(Arg1031Gln)" "" "0000305180" "00015829" "10" "3113" "0" "3113" "0" "c.3113T>C" "r.(?)" "p.(Val1038Ala)" "" "0000305181" "00015829" "30" "3144" "0" "3144" "0" "c.3144C>T" "r.(?)" "p.(His1048=)" "" "0000305182" "00015829" "10" "3339" "0" "3339" "0" "c.3339T>C" "r.(?)" "p.(Ser1113=)" "" "0000305183" "00015829" "50" "3358" "0" "3358" "0" "c.3358C>T" "r.(?)" "p.(Arg1120Cys)" "" "0000305184" "00015829" "30" "3423" "0" "3423" "0" "c.3423C>T" "r.(?)" "p.(Leu1141=)" "" "0000305185" "00015829" "50" "3460" "0" "3460" "0" "c.3460G>A" "r.(?)" "p.(Glu1154Lys)" "" "0000305186" "00015829" "30" "3481" "0" "3481" "0" "c.3481G>A" "r.(?)" "p.(Ala1161Thr)" "" "0000305187" "00015829" "10" "3487" "0" "3487" "0" "c.3487C>T" "r.(?)" "p.(Arg1163Cys)" "" "0000305188" "00015829" "10" "3580" "0" "3580" "0" "c.3580G>A" "r.(?)" "p.(Ala1194Thr)" "" "0000305189" "00015829" "50" "3748" "0" "3748" "0" "c.3748C>T" "r.(?)" "p.(Arg1250Trp)" "" "0000305190" "00015829" "30" "3840" "19" "3840" "19" "c.3840+19G>C" "r.(=)" "p.(=)" "" "0000305191" "00015829" "30" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Gly136Ser)" "" "0000305192" "00015829" "30" "4108" "0" "4108" "0" "c.4108C>T" "r.(?)" "p.(Arg1370Trp)" "" "0000305193" "00015829" "30" "4140" "0" "4140" "0" "c.4140G>A" "r.(?)" "p.(Ala1380=)" "" "0000305194" "00015829" "30" "4155" "0" "4155" "0" "c.4155G>T" "r.(?)" "p.(Glu1385Asp)" "" "0000305195" "00015829" "30" "4175" "0" "4175" "0" "c.4175G>A" "r.(?)" "p.(Arg1392Gln)" "" "0000305196" "00015829" "10" "4197" "0" "4197" "0" "c.4197C>T" "r.(?)" "p.(Asp1399=)" "" "0000305197" "00015829" "30" "4216" "17" "4216" "17" "c.4216+17G>C" "r.(=)" "p.(=)" "" "0000305198" "00015829" "50" "4285" "0" "4285" "0" "c.4285C>T" "r.(?)" "p.(Arg1429Cys)" "" "0000305199" "00015829" "30" "4345" "0" "4345" "0" "c.4345C>G" "r.(?)" "p.(Gln1449Glu)" "" "0000305200" "00015829" "30" "4352" "0" "4352" "0" "c.4352G>A" "r.(?)" "p.(Arg1451His)" "" "0000305201" "00015829" "30" "4563" "11" "4563" "11" "c.4563+11G>A" "r.(=)" "p.(=)" "" "0000305202" "00015829" "30" "4571" "0" "4571" "0" "c.4571C>G" "r.(?)" "p.(Pro1524Arg)" "" "0000305203" "00015829" "30" "4572" "0" "4572" "0" "c.4572G>A" "r.(?)" "p.(Pro1524=)" "" "0000305204" "00015829" "90" "4585" "-1" "4585" "-1" "c.4585-1G>A" "r.spl?" "p.?" "" "0000305205" "00015829" "30" "467" "0" "505" "0" "c.467_505del" "r.(?)" "p.(His156_Gln168del)" "" "0000305207" "00015829" "30" "4696" "0" "4696" "0" "c.4696C>A" "r.(?)" "p.(Arg1566Ser)" "" "0000305208" "00015829" "30" "471" "0" "471" "0" "c.471G>A" "r.(?)" "p.(Gly157=)" "" "0000305209" "00015829" "10" "4910" "0" "4910" "0" "c.4910C>T" "r.(?)" "p.(Pro1637Leu)" "" "0000305210" "00015829" "10" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000305211" "00015829" "10" "5253" "0" "5253" "0" "c.5253C>G" "r.(?)" "p.(His1751Gln)" "" "0000305212" "00015829" "30" "54" "11" "54" "11" "c.54+11G>A" "r.(=)" "p.(=)" "" "0000305213" "00015829" "10" "54" "6" "54" "6" "c.54+6C>T" "r.(=)" "p.(=)" "" "0000305214" "00015829" "50" "5492" "0" "5492" "0" "c.5492C>T" "r.(?)" "p.(Ala1831Val)" "" "0000305215" "00015829" "30" "5505" "0" "5505" "0" "c.5505G>A" "r.(?)" "p.(Leu1835=)" "" "0000305216" "00015829" "10" "5535" "0" "5535" "0" "c.5535G>A" "r.(?)" "p.(Arg1845=)" "" "0000305217" "00015829" "10" "5631" "0" "5631" "0" "c.5631C>T" "r.(?)" "p.(Ile1877=)" "" "0000305218" "00015829" "10" "5634" "0" "5634" "0" "c.5634C>T" "r.(?)" "p.(Asp1878=)" "" "0000305219" "00015829" "50" "5636" "0" "5636" "0" "c.5636C>G" "r.(?)" "p.(Ala1879Gly)" "" "0000305220" "00015829" "30" "5655" "0" "5655" "0" "c.5655G>A" "r.(?)" "p.(Ala1885=)" "" "0000305221" "00015829" "30" "5726" "0" "5726" "0" "c.5726C>T" "r.(?)" "p.(Pro1909Leu)" "" "0000305222" "00015829" "30" "5742" "0" "5742" "0" "c.5742G>A" "r.(?)" "p.(Ala1914=)" "" "0000305223" "00015829" "30" "5743" "0" "5743" "0" "c.5743G>A" "r.(?)" "p.(Ala1915Thr)" "" "0000305224" "00015829" "30" "5771" "0" "5771" "0" "c.5771C>T" "r.(?)" "p.(Ala1924Val)" "" "0000305225" "00015829" "10" "5815" "0" "5815" "0" "c.5815C>T" "r.(?)" "p.(Arg1939Trp)" "" "0000305226" "00015829" "10" "5858" "0" "5858" "0" "c.5858G>A" "r.(?)" "p.(Arg1953His)" "" "0000305227" "00015829" "10" "5879" "0" "5879" "0" "c.5879G>A" "r.(?)" "p.(Arg1960Gln)" "" "0000305228" "00015829" "30" "5938" "0" "5938" "0" "c.5938G>A" "r.(?)" "p.(Gly1980Ser)" "" "0000305229" "00015829" "30" "5982" "0" "5982" "0" "c.5982C>G" "r.(?)" "p.(Val1994=)" "" "0000305230" "00015829" "10" "5994" "13" "5994" "13" "c.5994+13C>T" "r.(=)" "p.(=)" "" "0000305231" "00015829" "30" "6053" "0" "6053" "0" "c.6053G>T" "r.(?)" "p.(Gly2018Val)" "" "0000305232" "00015829" "30" "6125" "0" "6125" "0" "c.6125G>A" "r.(?)" "p.(Arg2042His)" "" "0000305233" "00015829" "50" "6195" "0" "6195" "0" "c.6195T>G" "r.(?)" "p.(Asp2065Glu)" "" "0000305234" "00015829" "30" "6198" "0" "6198" "0" "c.6198C>T" "r.(?)" "p.(Leu2066=)" "" "0000305235" "00015829" "10" "6290" "0" "6290" "0" "c.6290T>C" "r.(?)" "p.(Leu2097Pro)" "" "0000305236" "00015829" "30" "6310" "0" "6310" "0" "c.6310C>T" "r.(?)" "p.(His2104Tyr)" "" "0000305237" "00015829" "30" "6425" "0" "6425" "0" "c.6425T>C" "r.(?)" "p.(Ile2142Thr)" "" "0000305238" "00015829" "10" "6563" "0" "6563" "0" "c.6563T>G" "r.(?)" "p.(Met2188Arg)" "" "0000305239" "00015829" "10" "6571" "0" "6571" "0" "c.6571T>C" "r.(?)" "p.(Ser2191Pro)" "" "0000305240" "00015829" "10" "6594" "0" "6594" "0" "c.6594T>C" "r.(?)" "p.(Gly2198=)" "" "0000305241" "00015829" "10" "6715" "0" "6715" "0" "c.6715T>C" "r.(?)" "p.(Trp2239Arg)" "" "0000305242" "00015829" "50" "6739" "0" "6739" "0" "c.6739C>T" "r.(?)" "p.(His2247Tyr)" "" "0000305243" "00015829" "30" "6743" "0" "6743" "0" "c.6743C>T" "r.(?)" "p.(Ser2248Leu)" "" "0000305244" "00015829" "50" "6820" "0" "6820" "0" "c.6820C>T" "r.(?)" "p.(Pro2274Ser)" "" "0000305245" "00015829" "10" "6821" "0" "6821" "0" "c.6821C>T" "r.(?)" "p.(Pro2274Leu)" "" "0000305246" "00015829" "30" "6822" "0" "6822" "0" "c.6822G>A" "r.(?)" "p.(Pro2274=)" "" "0000305247" "00015829" "10" "6918" "0" "6918" "0" "c.6918T>C" "r.(?)" "p.(Ala2306=)" "" "0000305250" "00015829" "10" "7074" "0" "7074" "0" "c.7074T>C" "r.(?)" "p.(Pro2358=)" "" "0000305251" "00015829" "10" "7130" "0" "7130" "0" "c.7130C>T" "r.(?)" "p.(Pro2377Leu)" "" "0000305252" "00015829" "10" "7159" "0" "7159" "0" "c.7159G>A" "r.(?)" "p.(Val2387Met)" "" "0000305253" "00015829" "10" "720" "17" "720" "17" "c.720+17T>C" "r.(=)" "p.(=)" "" "0000305254" "00015829" "10" "721" "-7" "721" "-7" "c.721-7G>A" "r.(=)" "p.(=)" "" "0000305255" "00015829" "50" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Val242Met)" "" "0000305256" "00015829" "30" "7332" "0" "7332" "0" "c.7332C>T" "r.(?)" "p.(Thr2444=)" "" "0000305257" "00015829" "30" "7337" "0" "7337" "0" "c.7337G>T" "r.(?)" "p.(Cys2446Phe)" "" "0000305258" "00015829" "10" "7353" "0" "7353" "0" "c.7353G>A" "r.(?)" "p.(Gly2451=)" "" "0000305259" "00015829" "10" "7404" "0" "7404" "0" "c.7404G>C" "r.(?)" "p.(Gln2468His)" "" "0000305260" "00015829" "10" "7485" "0" "7485" "0" "c.7485C>T" "r.(?)" "p.(Ile2495=)" "" "0000305261" "00015829" "30" "7495" "-10" "7495" "-10" "c.7495-10G>A" "r.(=)" "p.(=)" "" "0000305262" "00015829" "10" "7536" "0" "7536" "0" "c.7536G>A" "r.(?)" "p.(Pro2512=)" "" "0000305263" "00015829" "30" "7632" "0" "7632" "0" "c.7632G>A" "r.(?)" "p.(Thr2544=)" "" "0000305264" "00015829" "50" "7634" "0" "7634" "0" "c.7634C>T" "r.(?)" "p.(Ala2545Val)" "" "0000305265" "00015829" "10" "7645" "0" "7645" "0" "c.7645G>A" "r.(?)" "p.(Ala2549Thr)" "" "0000305266" "00015829" "30" "7652" "0" "7652" "0" "c.7652C>T" "r.(?)" "p.(Ala2551Val)" "" "0000305267" "00015829" "30" "7655" "0" "7655" "0" "c.7655G>A" "r.(?)" "p.(Arg2552His)" "" "0000305268" "00015829" "30" "7656" "0" "7656" "0" "c.7656C>T" "r.(?)" "p.(Arg2552=)" "" "0000305269" "00015829" "10" "7800" "0" "7800" "0" "c.7800G>A" "r.(?)" "p.(Ala2600=)" "" "0000305270" "00015829" "30" "7803" "0" "7803" "0" "c.7803G>A" "r.(?)" "p.(Ala2601=)" "" "0000305271" "00015829" "50" "7850" "0" "7850" "0" "c.7850G>A" "r.(?)" "p.(Arg2617Lys)" "" "0000305272" "00015829" "10" "7867" "0" "7867" "0" "c.7867C>T" "r.(?)" "p.(Leu2623=)" "" "0000305273" "00015829" "10" "7874" "0" "7874" "0" "c.7874G>A" "r.(?)" "p.(Arg2625Gln)" "" "0000305274" "00015829" "10" "7913" "9" "7913" "9" "c.7913+9G>C" "r.(=)" "p.(=)" "" "0000305275" "00015829" "10" "7914" "-16" "7914" "-16" "c.7914-16C>T" "r.(=)" "p.(=)" "" "0000305276" "00015829" "10" "7914" "-4" "7914" "-4" "c.7914-4G>A" "r.spl?" "p.?" "" "0000305277" "00015829" "50" "7915" "0" "7915" "0" "c.7915T>G" "r.(?)" "p.(Ser2639Ala)" "" "0000305278" "00015829" "10" "7977" "0" "7977" "0" "c.7977G>C" "r.(?)" "p.(Gln2659His)" "" "0000305279" "00015829" "30" "7986" "0" "7986" "0" "c.7986G>T" "r.(?)" "p.(Gly2662=)" "" "0000305280" "00015829" "10" "8065" "-19" "8065" "-19" "c.8065-19G>A" "r.(=)" "p.(=)" "" "0000305281" "00015829" "30" "8092" "0" "8092" "0" "c.8092C>T" "r.(?)" "p.(Arg2698Cys)" "" "0000305282" "00015829" "10" "8258" "0" "8258" "0" "c.8258G>A" "r.(?)" "p.(Arg2753His)" "" "0000305283" "00015829" "10" "8418" "0" "8418" "0" "c.8418G>A" "r.(?)" "p.(Ala2806=)" "" "0000305284" "00015829" "30" "8671" "0" "8671" "0" "c.8671G>A" "r.(?)" "p.(Ala2891Thr)" "" "0000305285" "00015829" "30" "8702" "0" "8702" "0" "c.8702C>T" "r.(?)" "p.(Pro2901Leu)" "" "0000305286" "00015829" "10" "8707" "0" "8707" "0" "c.8707G>A" "r.(?)" "p.(Ala2903Thr)" "" "0000305287" "00015829" "10" "8895" "0" "8895" "0" "c.8895G>A" "r.(?)" "p.(Ala2965=)" "" "0000305288" "00015829" "10" "9014" "0" "9014" "0" "c.9014C>T" "r.(?)" "p.(Thr3005Met)" "" "0000305289" "00015829" "30" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Glu302Lys)" "" "0000305290" "00015829" "50" "9053" "0" "9053" "0" "c.9053C>T" "r.(?)" "p.(Thr3018Met)" "" "0000305291" "00015829" "10" "9099" "12" "9099" "12" "c.9099+12G>A" "r.(=)" "p.(=)" "" "0000305292" "00015829" "30" "9099" "14" "9099" "14" "c.9099+14G>A" "r.(=)" "p.(=)" "" "0000305293" "00015829" "10" "9273" "22" "9273" "22" "c.9273+22T>C" "r.(=)" "p.(=)" "" "0000305294" "00015829" "30" "9274" "-3" "9274" "-3" "c.9274-3C>T" "r.spl?" "p.?" "" "0000305295" "00015829" "30" "9285" "0" "9285" "0" "c.9285G>A" "r.(?)" "p.(Arg3095=)" "" "0000305296" "00015829" "50" "9332" "0" "9332" "0" "c.9332G>A" "r.(?)" "p.(Arg3111His)" "" "0000305297" "00015829" "50" "935" "0" "935" "0" "c.935G>A" "r.(?)" "p.(Arg312Gln)" "" "0000305298" "00015829" "30" "9367" "0" "9367" "0" "c.9367G>A" "r.(?)" "p.(Glu3123Lys)" "" "0000305299" "00015829" "10" "9394" "-4" "9394" "-4" "c.9394-4T>C" "r.spl?" "p.?" "" "0000305300" "00015829" "50" "9409" "0" "9409" "0" "c.9409C>G" "r.(?)" "p.(Leu3137Val)" "" "0000305301" "00015829" "30" "9707" "0" "9707" "0" "c.9707G>A" "r.(?)" "p.(Arg3236Gln)" "" "0000305302" "00015829" "10" "9720" "0" "9720" "0" "c.9720G>A" "r.(?)" "p.(Pro3240=)" "" "0000305303" "00015829" "30" "9759" "0" "9759" "0" "c.9759G>T" "r.(?)" "p.(Arg3253=)" "" "0000305304" "00015829" "10" "9967" "18" "9967" "18" "c.9967+18C>T" "r.(=)" "p.(=)" "" "0000328770" "00015829" "30" "-1560" "0" "-1560" "0" "c.-1560A>T" "r.(?)" "p.(=)" "" "0000328771" "00015829" "50" "-1515" "0" "-1515" "0" "c.-1515T>C" "r.(?)" "p.(=)" "" "0000328774" "00015829" "50" "428" "0" "466" "0" "c.428_466del" "r.(?)" "p.(Arg143_Gln155del)" "" "0000328775" "00015829" "30" "467" "0" "505" "0" "c.467_505dup" "r.(?)" "p.(His156_Gln168dup)" "" "0000328777" "00015829" "30" "467" "0" "505" "0" "c.467_505del" "r.(?)" "p.(His156_Gln168del)" "" "0000328778" "00015829" "50" "445" "0" "445" "0" "c.445A>G" "r.(?)" "p.(Ser149Gly)" "" "0000328779" "00015829" "50" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Val161Ile)" "" "0000328781" "00015829" "50" "517" "0" "517" "0" "c.517A>G" "r.(?)" "p.(Thr173Ala)" "" "0000328782" "00015829" "30" "533" "0" "533" "0" "c.533A>C" "r.(?)" "p.(Gln178Pro)" "" "0000328784" "00015829" "50" "824" "0" "824" "0" "c.824C>T" "r.(?)" "p.(Thr275Met)" "" "0000328785" "00015829" "30" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Glu302Lys)" "" "0000328788" "00015829" "50" "2057" "0" "2057" "0" "c.2057C>A" "r.(?)" "p.(Thr686Asn)" "" "0000328789" "00015829" "30" "2308" "0" "2308" "0" "c.2308A>G" "r.(?)" "p.(Met770Val)" "" "0000328791" "00015829" "30" "2610" "-8" "2610" "-8" "c.2610-8T>C" "r.(=)" "p.(=)" "" "0000328793" "00015829" "30" "3748" "0" "3748" "0" "c.3748C>T" "r.(?)" "p.(Arg1250Trp)" "" "0000328794" "00015829" "50" "4301" "0" "4301" "0" "c.4301C>T" "r.(?)" "p.(Ser1434Phe)" "" "0000328795" "00015829" "30" "4345" "0" "4345" "0" "c.4345C>G" "r.(?)" "p.(Gln1449Glu)" "" "0000328797" "00015829" "30" "4571" "0" "4571" "0" "c.4571C>G" "r.(?)" "p.(Pro1524Arg)" "" "0000328800" "00015829" "30" "4910" "0" "4910" "0" "c.4910C>T" "r.(?)" "p.(Pro1637Leu)" "" "0000328801" "00015829" "50" "4949" "0" "4949" "0" "c.4949G>A" "r.(?)" "p.(Arg1650Gln)" "" "0000328803" "00015829" "50" "5737" "0" "5737" "0" "c.5737G>A" "r.(?)" "p.(Gly1913Arg)" "" "0000328804" "00015829" "50" "5741" "0" "5741" "0" "c.5741C>T" "r.(?)" "p.(Ala1914Val)" "" "0000328805" "00015829" "50" "5743" "0" "5743" "0" "c.5743G>A" "r.(?)" "p.(Ala1915Thr)" "" "0000328807" "00015829" "30" "5815" "0" "5815" "0" "c.5815C>T" "r.(?)" "p.(Arg1939Trp)" "" "0000328808" "00015829" "30" "5994" "4" "5994" "4" "c.5994+4G>A" "r.spl?" "p.?" "" "0000328810" "00015829" "30" "6151" "-4" "6151" "-4" "c.6151-4G>A" "r.spl?" "p.?" "" "0000328811" "00015829" "30" "6195" "0" "6195" "0" "c.6195T>G" "r.(?)" "p.(Asp2065Glu)" "" "0000328813" "00015829" "50" "6295" "0" "6295" "0" "c.6295C>T" "r.(?)" "p.(Pro2099Ser)" "" "0000328814" "00015829" "30" "6739" "0" "6739" "0" "c.6739C>T" "r.(?)" "p.(His2247Tyr)" "" "0000328815" "00015829" "30" "6844" "0" "6844" "0" "c.6844G>A" "r.(?)" "p.(Val2282Met)" "" "0000328816" "00015829" "30" "6957" "0" "6957" "0" "c.6957T>G" "r.(?)" "p.(Phe2319Leu)" "" "0000328817" "00015829" "30" "6986" "0" "6986" "0" "c.6986C>G" "r.(?)" "p.(Pro2329Arg)" "" "0000328818" "00015829" "30" "7013" "0" "7013" "0" "c.7013G>A" "r.(?)" "p.(Arg2338Lys)" "" "0000328821" "00015829" "30" "7271" "0" "7271" "0" "c.7271G>A" "r.(?)" "p.(Arg2424Gln)" "" "0000328823" "00015829" "30" "7404" "0" "7404" "0" "c.7404G>C" "r.(?)" "p.(Gln2468His)" "" "0000328824" "00015829" "50" "7691" "-3" "7691" "-3" "c.7691-3C>T" "r.spl?" "p.?" "" "0000328826" "00015829" "30" "7914" "-4" "7914" "-4" "c.7914-4G>A" "r.spl?" "p.?" "" "0000328827" "00015829" "30" "8398" "0" "8398" "0" "c.8398C>T" "r.(?)" "p.(Arg2800Trp)" "" "0000328829" "00015829" "30" "8752" "-5" "8752" "-5" "c.8752-5A>C" "r.spl?" "p.?" "" "0000328830" "00015829" "30" "8771" "0" "8771" "0" "c.8771G>A" "r.(?)" "p.(Arg2924His)" "" "0000328832" "00015829" "30" "8924" "0" "8924" "0" "c.8924T>C" "r.(?)" "p.(Leu2975Pro)" "" "0000328835" "00015829" "30" "9274" "-3" "9274" "-3" "c.9274-3C>T" "r.spl?" "p.?" "" "0000328836" "00015829" "30" "9304" "0" "9304" "0" "c.9304G>A" "r.(?)" "p.(Glu3102Lys)" "" "0000328837" "00015829" "30" "9707" "0" "9707" "0" "c.9707G>A" "r.(?)" "p.(Arg3236Gln)" "" "0000571094" "00015829" "30" "54" "6" "54" "6" "c.54+6C>T" "r.(=)" "p.(=)" "" "0000571095" "00015829" "50" "89" "0" "89" "0" "c.89A>G" "r.(?)" "p.(Asp30Gly)" "" "0000571097" "00015829" "30" "337" "0" "337" "0" "c.337C>A" "r.(?)" "p.(Pro113Thr)" "" "0000571098" "00015829" "30" "357" "0" "357" "0" "c.357G>T" "r.(?)" "p.(Met119Ile)" "" "0000571099" "00015829" "30" "389" "0" "389" "0" "c.389A>G" "r.(?)" "p.(His130Arg)" "" "0000571100" "00015829" "30" "418" "0" "418" "0" "c.418C>T" "r.(?)" "p.(Pro140Ser)" "" "0000571104" "00015829" "30" "467" "0" "505" "0" "c.467_505dup" "r.(?)" "p.(His156_Gln168dup)" "" "0000571105" "00015829" "30" "467" "0" "505" "0" "c.467_505dup" "r.(?)" "p.(His156_Gln168dup)" "" "0000571106" "00015829" "30" "520" "0" "520" "0" "c.520A>G" "r.(?)" "p.(Ile174Val)" "" "0000571107" "00015829" "30" "533" "0" "533" "0" "c.533A>C" "r.(?)" "p.(Gln178Pro)" "" "0000571108" "00015829" "30" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Arg208His)" "" "0000571109" "00015829" "30" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Cys215Tyr)" "" "0000571110" "00015829" "10" "711" "0" "711" "0" "c.711T>G" "r.(?)" "p.(His237Gln)" "" "0000571111" "00015829" "30" "711" "0" "711" "0" "c.711T>G" "r.(?)" "p.(His237Gln)" "" "0000571112" "00015829" "30" "959" "0" "959" "0" "c.959G>A" "r.(?)" "p.(Arg320Lys)" "" "0000571113" "00015829" "30" "959" "0" "959" "0" "c.959G>A" "r.(?)" "p.(Arg320Lys)" "" "0000571117" "00015829" "50" "1178" "0" "1180" "0" "c.1178_1180del" "r.(?)" "p.(Lys393del)" "" "0000571119" "00015829" "30" "1943" "0" "1943" "0" "c.1943C>G" "r.(?)" "p.(Pro648Arg)" "" "0000571120" "00015829" "30" "1971" "0" "1971" "0" "c.1971C>G" "r.(?)" "p.(Asp657Glu)" "" "0000571123" "00015829" "30" "2033" "0" "2033" "0" "c.2033A>G" "r.(?)" "p.(Lys678Arg)" "" "0000571126" "00015829" "30" "2610" "-8" "2610" "-8" "c.2610-8T>C" "r.(=)" "p.(=)" "" "0000571127" "00015829" "30" "2679" "0" "2679" "0" "c.2679C>T" "r.(?)" "p.(Ala893=)" "" "0000571128" "00015829" "30" "2692" "0" "2692" "0" "c.2692G>A" "r.(?)" "p.(Ala898Thr)" "" "0000571129" "00015829" "50" "2692" "0" "2692" "0" "c.2692G>A" "r.(?)" "p.(Ala898Thr)" "" "0000571130" "00015829" "30" "2750" "0" "2750" "0" "c.2750C>T" "r.(?)" "p.(Ala917Val)" "" "0000571132" "00015829" "90" "2818" "0" "2818" "0" "c.2818dup" "r.(?)" "p.(Ala940GlyfsTer30)" "" "0000571133" "00015829" "30" "2833" "0" "2833" "0" "c.2833C>T" "r.(?)" "p.(Arg945Cys)" "" "0000571134" "00015829" "30" "3143" "0" "3143" "0" "c.3143A>G" "r.(?)" "p.(His1048Arg)" "" "0000571135" "00015829" "30" "3340" "0" "3340" "0" "c.3340C>T" "r.(?)" "p.(His1114Tyr)" "" "0000571138" "00015829" "30" "3580" "0" "3580" "0" "c.3580G>A" "r.(?)" "p.(Ala1194Thr)" "" "0000571139" "00015829" "30" "3730" "0" "3730" "0" "c.3730A>G" "r.(?)" "p.(Met1244Val)" "" "0000571141" "00015829" "50" "3799" "0" "3799" "0" "c.3799G>T" "r.(?)" "p.(Val1267Leu)" "" "0000571142" "00015829" "30" "4108" "0" "4108" "0" "c.4108C>T" "r.(?)" "p.(Arg1370Trp)" "" "0000571143" "00015829" "30" "4142" "0" "4142" "0" "c.4142C>T" "r.(?)" "p.(Ala1381Val)" "" "0000571145" "00015829" "30" "4216" "11" "4216" "11" "c.4216+11C>T" "r.(=)" "p.(=)" "" "0000571146" "00015829" "30" "4285" "0" "4285" "0" "c.4285C>T" "r.(?)" "p.(Arg1429Cys)" "" "0000571147" "00015829" "10" "4354" "0" "4354" "0" "c.4354G>A" "r.(?)" "p.(Gly1452Arg)" "" "0000571148" "00015829" "30" "4354" "0" "4354" "0" "c.4354G>A" "r.(?)" "p.(Gly1452Arg)" "" "0000571149" "00015829" "50" "4475" "0" "4475" "0" "c.4475G>A" "r.(?)" "p.(Arg1492His)" "" "0000571151" "00015829" "30" "4675" "0" "4675" "0" "c.4675A>T" "r.(?)" "p.(Met1559Leu)" "" "0000571155" "00015829" "10" "5322" "0" "5322" "0" "c.5322G>A" "r.(?)" "p.(Glu1774=)" "" "0000571158" "00015829" "50" "5548" "0" "5548" "0" "c.5548G>A" "r.(?)" "p.(Glu1850Lys)" "" "0000571159" "00015829" "30" "5636" "0" "5636" "0" "c.5636C>G" "r.(?)" "p.(Ala1879Gly)" "" "0000571160" "00015829" "30" "5771" "0" "5771" "0" "c.5771C>T" "r.(?)" "p.(Ala1924Val)" "" "0000571162" "00015829" "30" "5858" "0" "5858" "0" "c.5858G>A" "r.(?)" "p.(Arg1953His)" "" "0000571163" "00015829" "10" "5879" "0" "5879" "0" "c.5879G>A" "r.(?)" "p.(Arg1960Gln)" "" "0000571164" "00015829" "30" "6072" "0" "6072" "0" "c.6072C>T" "r.(?)" "p.(Thr2024=)" "" "0000571165" "00015829" "30" "6080" "0" "6080" "0" "c.6080A>G" "r.(?)" "p.(Gln2027Arg)" "" "0000571167" "00015829" "10" "6150" "11" "6150" "11" "c.6150+11G>C" "r.(=)" "p.(=)" "" "0000571169" "00015829" "30" "6571" "0" "6571" "0" "c.6571T>C" "r.(?)" "p.(Ser2191Pro)" "" "0000571170" "00015829" "30" "6625" "0" "6625" "0" "c.6625G>A" "r.(?)" "p.(Ala2209Thr)" "" "0000571171" "00015829" "30" "6634" "0" "6634" "0" "c.6634C>T" "r.(?)" "p.(Arg2212Trp)" "" "0000571172" "00015829" "30" "6895" "0" "6895" "0" "c.6895G>A" "r.(?)" "p.(Asp2299Asn)" "" "0000571173" "00015829" "30" "6895" "0" "6895" "0" "c.6895G>A" "r.(?)" "p.(Asp2299Asn)" "" "0000571174" "00015829" "10" "6922" "-5" "6922" "-4" "c.6922-5_6922-4insTCTGA" "r.spl?" "p.?" "" "0000571175" "00015829" "10" "6922" "-5" "6922" "-4" "c.6922-5_6922-4insTCTGA" "r.spl?" "p.?" "" "0000571177" "00015829" "30" "7029" "0" "7029" "0" "c.7029C>T" "r.(?)" "p.(Asp2343=)" "" "0000571178" "00015829" "30" "7040" "0" "7040" "0" "c.7040T>C" "r.(?)" "p.(Phe2347Ser)" "" "0000571179" "00015829" "30" "7128" "0" "7128" "0" "c.7128G>T" "r.(?)" "p.(Gln2376His)" "" "0000571180" "00015829" "30" "7130" "0" "7130" "0" "c.7130C>T" "r.(?)" "p.(Pro2377Leu)" "" "0000571181" "00015829" "30" "7180" "-8" "7180" "-8" "c.7180-8C>T" "r.(=)" "p.(=)" "" "0000571184" "00015829" "90" "7423" "0" "7423" "0" "c.7423C>T" "r.(?)" "p.(Arg2475Ter)" "" "0000571185" "00015829" "30" "7459" "0" "7459" "0" "c.7459C>G" "r.(?)" "p.(Leu2487Val)" "" "0000571186" "00015829" "30" "7652" "0" "7652" "0" "c.7652C>T" "r.(?)" "p.(Ala2551Val)" "" "0000571187" "00015829" "90" "7786" "0" "7786" "0" "c.7786C>T" "r.(?)" "p.(Gln2596Ter)" "" "0000571189" "00015829" "30" "8108" "0" "8108" "0" "c.8108G>A" "r.(?)" "p.(Arg2703Gln)" "" "0000571190" "00015829" "50" "8183" "0" "8183" "0" "c.8183G>T" "r.(?)" "p.(Arg2728Leu)" "" "0000571191" "00015829" "30" "8258" "0" "8258" "0" "c.8258G>A" "r.(?)" "p.(Arg2753His)" "" "0000571192" "00015829" "50" "8294" "0" "8294" "0" "c.8294G>A" "r.(?)" "p.(Arg2765Gln)" "" "0000571193" "00015829" "30" "8431" "0" "8431" "0" "c.8431G>T" "r.(?)" "p.(Val2811Leu)" "" "0000571194" "00015829" "50" "8633" "0" "8633" "0" "c.8633C>G" "r.(?)" "p.(Ser2878Ter)" "" "0000571195" "00015829" "30" "8671" "0" "8671" "0" "c.8671G>A" "r.(?)" "p.(Ala2891Thr)" "" "0000571197" "00015829" "30" "8702" "0" "8702" "0" "c.8702C>T" "r.(?)" "p.(Pro2901Leu)" "" "0000571199" "00015829" "10" "8751" "22" "8751" "23" "c.8751+22_8751+23insG" "r.(=)" "p.(=)" "" "0000571200" "00015829" "50" "8873" "0" "8873" "0" "c.8873G>A" "r.(?)" "p.(Arg2958His)" "" "0000571201" "00015829" "30" "8906" "0" "8906" "0" "c.8906G>A" "r.(?)" "p.(Arg2969Gln)" "" "0000571202" "00015829" "30" "8918" "0" "8918" "0" "c.8918G>A" "r.(?)" "p.(Arg2973Gln)" "" "0000571203" "00015829" "50" "8947" "0" "8947" "0" "c.8947C>T" "r.(?)" "p.(Leu2983Phe)" "" "0000571204" "00015829" "10" "8988" "0" "8988" "0" "c.8988C>T" "r.(?)" "p.(Ala2996=)" "" "0000571205" "00015829" "30" "9014" "0" "9014" "0" "c.9014C>T" "r.(?)" "p.(Thr3005Met)" "" "0000571206" "00015829" "90" "9078" "0" "9078" "0" "c.9078del" "r.(?)" "p.(Ser3027AlafsTer23)" "" "0000571209" "00015829" "30" "9271" "0" "9271" "0" "c.9271A>G" "r.(?)" "p.(Ser3091Gly)" "" "0000571210" "00015829" "30" "9334" "0" "9334" "0" "c.9334C>T" "r.(?)" "p.(Pro3112Ser)" "" "0000571212" "00015829" "10" "9623" "8" "9623" "8" "c.9623+8C>T" "r.(=)" "p.(=)" "" "0000571213" "00015829" "50" "9661" "0" "9661" "0" "c.9661C>T" "r.(?)" "p.(Arg3221Trp)" "" "0000571214" "00015829" "30" "9758" "0" "9758" "0" "c.9758G>A" "r.(?)" "p.(Arg3253Gln)" "" "0000571216" "00015829" "30" "9866" "0" "9866" "0" "c.9866T>C" "r.(?)" "p.(Leu3289Ser)" "" "0000618430" "00015829" "50" "237" "0" "237" "0" "c.237del" "r.(?)" "p.(Asp80MetfsTer173)" "" "0000618431" "00015829" "30" "1246" "0" "1246" "0" "c.1246A>G" "r.(?)" "p.(Ile416Val)" "" "0000618432" "00015829" "30" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899Cys)" "" "0000618433" "00015829" "30" "4564" "-6" "4564" "-6" "c.4564-6C>G" "r.(=)" "p.(=)" "" "0000618434" "00015829" "50" "5707" "0" "5707" "0" "c.5707C>T" "r.(?)" "p.(Arg1903Cys)" "" "0000618435" "00015829" "50" "5708" "0" "5708" "0" "c.5708G>T" "r.(?)" "p.(Arg1903Leu)" "" "0000618437" "00015829" "30" "6922" "-5" "6922" "-4" "c.6922-5_6922-4insTCTGA" "r.spl?" "p.?" "" "0000618438" "00015829" "30" "7282" "0" "7282" "0" "c.7282G>A" "r.(?)" "p.(Glu2428Lys)" "" "0000624244" "00015829" "30" "1825" "0" "1825" "0" "c.1825G>A" "r.(?)" "p.(Glu609Lys)" "" "0000624245" "00015829" "30" "2376" "0" "2376" "0" "c.2376A>C" "r.(?)" "p.(Arg792=)" "" "0000624246" "00015829" "30" "3404" "0" "3404" "0" "c.3404G>A" "r.(?)" "p.(Arg1135Gln)" "" "0000624247" "00015829" "30" "5905" "0" "5905" "0" "c.5905C>T" "r.(?)" "p.(Arg1969Cys)" "" "0000624248" "00015829" "30" "6933" "0" "6933" "0" "c.6933C>T" "r.(?)" "p.(Val2311=)" "" "0000624249" "00015829" "30" "7459" "0" "7459" "0" "c.7459C>G" "r.(?)" "p.(Leu2487Val)" "" "0000624250" "00015829" "30" "7682" "0" "7682" "0" "c.7682G>A" "r.(?)" "p.(Arg2561His)" "" "0000650907" "00015829" "50" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Glu302Lys)" "" "0000650908" "00015829" "30" "3580" "0" "3580" "0" "c.3580G>A" "r.(?)" "p.(Ala1194Thr)" "" "0000650909" "00015829" "50" "6080" "0" "6080" "0" "c.6080A>G" "r.(?)" "p.(Gln2027Arg)" "" "0000650911" "00015829" "30" "6739" "0" "6739" "0" "c.6739C>T" "r.(?)" "p.(His2247Tyr)" "" "0000650912" "00015829" "50" "7800" "0" "7800" "0" "c.7800G>A" "r.(=)" "p.(=)" "" "0000650913" "00015829" "30" "8707" "0" "8707" "0" "c.8707G>A" "r.(?)" "p.(Ala2903Thr)" "" "0000653310" "00015829" "90" "8867" "0" "8867" "0" "c.8867dup" "r.(?)" "p.(Ala2957Cysfs*46)" "" "0000658862" "00015829" "30" "444" "0" "445" "0" "c.444_445insGGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTC" "r.(?)" "p.(Val148_Ser149insGlyAspHisProProGluGlnHisGlyMetPheThrVal)" "" "0000658863" "00015829" "50" "494" "0" "532" "0" "c.494_532del" "r.(?)" "p.(Pro165_His177del)" "" "0000658864" "00015829" "30" "4962" "3" "4962" "3" "c.4962+3G>A" "r.spl?" "p.?" "" "0000658865" "00015829" "50" "9217" "0" "9217" "0" "c.9217G>A" "r.(?)" "p.(Val3073Met)" "" "0000669701" "00015829" "30" "3580" "0" "3580" "0" "c.3580G>A" "r.(?)" "p.(Ala1194Thr)" "" "0000669702" "00015829" "30" "6571" "0" "6571" "0" "c.6571T>C" "r.(?)" "p.(Ser2191Pro)" "" "0000669703" "00015829" "30" "8707" "0" "8707" "0" "c.8707G>A" "r.(?)" "p.(Ala2903Thr)" "" "0000681762" "00015829" "30" "1489" "0" "1489" "0" "c.1489C>A" "r.(?)" "p.(Arg497Ser)" "" "0000681763" "00015829" "30" "3608" "-7" "3608" "-7" "c.3608-7C>T" "r.(=)" "p.(=)" "" "0000681764" "00015829" "30" "4216" "10" "4216" "10" "c.4216+10G>A" "r.(=)" "p.(=)" "" "0000681765" "00015829" "30" "5603" "0" "5603" "0" "c.5603C>T" "r.(?)" "p.(Ala1868Val)" "" "0000681766" "00015829" "30" "5890" "0" "5890" "0" "c.5890G>A" "r.(?)" "p.(Ala1964Thr)" "" "0000681767" "00015829" "50" "6458" "0" "6458" "0" "c.6458A>G" "r.(?)" "p.(Asn2153Ser)" "" "0000683567" "00015829" "70" "1879" "0" "1879" "0" "c.1879G>C" "r.(?)" "p.(Glu627Gln)" "" "0000693086" "00015829" "30" "2458" "0" "2458" "0" "c.2458C>T" "r.(?)" "p.(Arg820Cys)" "" "0000693087" "00015829" "30" "2558" "0" "2558" "0" "c.2558C>T" "r.(?)" "p.(Ala853Val)" "" "0000693088" "00015829" "90" "2818" "0" "2818" "0" "c.2818dup" "r.(?)" "p.(Ala940GlyfsTer30)" "" "0000693089" "00015829" "30" "3611" "0" "3611" "0" "c.3611C>T" "r.(?)" "p.(Pro1204Leu)" "" "0000693090" "00015829" "30" "7159" "0" "7159" "0" "c.7159G>A" "r.(?)" "p.(Val2387Met)" "" "0000693091" "00015829" "30" "7198" "0" "7198" "0" "c.7198C>T" "r.(?)" "p.(Arg2400Cys)" "" "0000693092" "00015829" "50" "7657" "0" "7657" "0" "c.7657G>C" "r.(?)" "p.(Gly2553Arg)" "" "0000693093" "00015829" "30" "9174" "0" "9174" "0" "c.9174G>A" "r.(?)" "p.(Ala3058=)" "" "0000693094" "00015829" "50" "9556" "0" "9556" "0" "c.9556C>T" "r.(?)" "p.(Arg3186Trp)" "" "0000728004" "00015829" "30" "720" "8" "720" "8" "c.720+8G>A" "r.(=)" "p.(=)" "" "0000728005" "00015829" "30" "2805" "0" "2805" "0" "c.2805G>A" "r.(?)" "p.(Glu935=)" "" "0000728006" "00015829" "50" "3091" "0" "3091" "0" "c.3091C>T" "r.(?)" "p.(Arg1031Trp)" "" "0000728007" "00015829" "30" "3549" "0" "3549" "0" "c.3549C>T" "r.(?)" "p.(Ile1183=)" "" "0000728008" "00015829" "30" "4109" "0" "4109" "0" "c.4109G>A" "r.(?)" "p.(Arg1370Gln)" "" "0000728009" "00015829" "50" "4485" "0" "4485" "0" "c.4485C>G" "r.(?)" "p.(Phe1495Leu)" "" "0000728010" "00015829" "30" "5941" "0" "5941" "0" "c.5941G>A" "r.(?)" "p.(Asp1981Asn)" "" "0000728011" "00015829" "30" "7304" "0" "7304" "0" "c.7304A>G" "r.(?)" "p.(His2435Arg)" "" "0000728012" "00015829" "50" "7913" "4" "7913" "4" "c.7913+4C>T" "r.spl?" "p.?" "" "0000728013" "00015829" "50" "8209" "0" "8209" "0" "c.8209C>T" "r.(?)" "p.(Arg2737Trp)" "" "0000728014" "00015829" "30" "8889" "0" "8889" "0" "c.8889G>A" "r.(?)" "p.(Ser2963=)" "" "0000728015" "00015829" "90" "9470" "0" "9470" "0" "c.9470dup" "r.(?)" "p.(Leu3157Phefs*11)" "" "0000728016" "00015829" "30" "9694" "0" "9694" "0" "c.9694C>T" "r.(?)" "p.(Arg3232Cys)" "" "0000730042" "00015829" "90" "2812" "0" "2812" "0" "c.2812C>T" "r.(?)" "p.(Gln938*)" "" "0000760750" "00015829" "70" "7299" "0" "7302" "0" "c.7299_7302del" "r.(?)" "p.(Leu2434Metfs*96)" "" "0000786980" "00015829" "90" "5767" "0" "5767" "0" "c.5767C>T" "r.(?)" "p.(Arg1923Ter)" "28" "0000809452" "00015829" "30" "1519" "0" "1519" "0" "c.1519C>G" "r.(?)" "p.(Arg507Gly)" "" "0000809453" "00015829" "50" "2833" "0" "2833" "0" "c.2833C>T" "r.(?)" "p.(Arg945Cys)" "" "0000809454" "00015829" "50" "2866" "0" "2866" "0" "c.2866G>A" "r.(?)" "p.(Asp956Asn)" "" "0000809455" "00015829" "50" "4946" "0" "4946" "0" "c.4946T>C" "r.(?)" "p.(Leu1649Pro)" "" "0000809456" "00015829" "70" "5443" "0" "5443" "0" "c.5443del" "r.(?)" "p.(Gln1815Argfs*28)" "" "0000809457" "00015829" "30" "6020" "0" "6020" "0" "c.6020C>T" "r.(?)" "p.(Thr2007Met)" "" "0000809458" "00015829" "30" "6295" "0" "6295" "0" "c.6295C>T" "r.(?)" "p.(Pro2099Ser)" "" "0000809459" "00015829" "50" "7030" "0" "7030" "0" "c.7030G>A" "r.(?)" "p.(Gly2344Ser)" "" "0000809460" "00015829" "90" "7486" "0" "7492" "0" "c.7486_7492del" "r.(?)" "p.(Gln2498Thrfs*31)" "" "0000809461" "00015829" "30" "8642" "0" "8642" "0" "c.8642G>A" "r.(?)" "p.(Arg2881Gln)" "" "0000809462" "00015829" "30" "9138" "0" "9138" "0" "c.9138C>T" "r.(?)" "p.(Asp3046=)" "" "0000821033" "00015829" "90" "2407" "0" "2407" "0" "c.2407C>T" "r.(?)" "p.(Gln803Ter)" "14" "0000856048" "00015829" "30" "4345" "0" "4345" "0" "c.4345C>G" "r.(?)" "p.(Gln1449Glu)" "" "0000856049" "00015829" "30" "8401" "0" "8401" "0" "c.8401G>C" "r.(?)" "p.(Val2801Leu)" "" "0000866698" "00015829" "30" "205" "0" "205" "0" "c.205A>G" "r.(?)" "p.(Ile69Val)" "" "0000866699" "00015829" "30" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Arg403Trp)" "" "0000866700" "00015829" "30" "2164" "0" "2164" "0" "c.2164A>G" "r.(?)" "p.(Asn722Asp)" "" "0000866701" "00015829" "30" "3165" "7" "3165" "7" "c.3165+7C>T" "r.(=)" "p.(=)" "" "0000866702" "00015829" "50" "4954" "0" "4954" "0" "c.4954G>A" "r.(?)" "p.(Glu1652Lys)" "" "0000866703" "00015829" "50" "5176" "0" "5176" "0" "c.5176G>C" "r.(?)" "p.(Glu1726Gln)" "" "0000866704" "00015829" "30" "5698" "0" "5698" "0" "c.5698C>T" "r.(?)" "p.(Arg1900Cys)" "" "0000866705" "00015829" "30" "6111" "0" "6111" "0" "c.6111G>A" "r.(?)" "p.(Val2037=)" "" "0000866706" "00015829" "90" "6316" "0" "6325" "0" "c.6316_6325del" "r.(?)" "p.(Leu2106Alafs*18)" "" "0000866707" "00015829" "30" "7093" "0" "7093" "0" "c.7093C>T" "r.(?)" "p.(Pro2365Ser)" "" "0000866708" "00015829" "30" "7118" "0" "7118" "0" "c.7118G>A" "r.(?)" "p.(Gly2373Glu)" "" "0000866709" "00015829" "30" "7568" "0" "7568" "0" "c.7568C>T" "r.(?)" "p.(Ala2523Val)" "" "0000866710" "00015829" "30" "7614" "0" "7614" "0" "c.7614G>A" "r.(?)" "p.(Lys2538=)" "" "0000866711" "00015829" "30" "7759" "0" "7759" "0" "c.7759G>A" "r.(?)" "p.(Glu2587Lys)" "" "0000866712" "00015829" "10" "7874" "0" "7874" "0" "c.7874G>A" "r.(?)" "p.(Arg2625Gln)" "" "0000866713" "00015829" "30" "8712" "0" "8712" "0" "c.8712G>A" "r.(?)" "p.(Ala2904=)" "" "0000866714" "00015829" "30" "9102" "0" "9102" "0" "c.9102A>G" "r.(?)" "p.(Lys3034=)" "" "0000895563" "00015829" "50" "1445" "0" "1445" "0" "c.1445A>G" "r.(?)" "p.(Gln482Arg)" "" "0000895564" "00015829" "30" "2247" "0" "2247" "0" "c.2247A>C" "r.(?)" "p.(Glu749Asp)" "" "0000895565" "00015829" "30" "4222" "0" "4222" "0" "c.4222C>T" "r.(?)" "p.(Arg1408Trp)" "" "0000895566" "00015829" "30" "4669" "0" "4669" "0" "c.4669G>A" "r.(?)" "p.(Val1557Met)" "" "0000895567" "00015829" "30" "5040" "0" "5040" "0" "c.5040C>G" "r.(?)" "p.(Asn1680Lys)" "" "0000895568" "00015829" "30" "6631" "0" "6631" "0" "c.6631C>T" "r.(?)" "p.(Pro2211Ser)" "" "0000915475" "00015829" "50" "2341" "0" "2341" "0" "c.2341G>A" "r.(?)" "p.(Glu781Lys)" "" "0000915476" "00015829" "30" "5027" "0" "5027" "0" "c.5027T>C" "r.(?)" "p.(Ile1676Thr)" "" "0000915477" "00015829" "30" "8290" "0" "8290" "0" "c.8290G>C" "r.(?)" "p.(Glu2764Gln)" "" "0000915478" "00015829" "30" "9866" "0" "9866" "0" "c.9866T>C" "r.(?)" "p.(Leu3289Ser)" "" "0000927105" "00015829" "30" "4285" "0" "4285" "0" "c.4285C>T" "r.(?)" "p.(Arg1429Cys)" "" "0000931235" "00015829" "30" "5783" "0" "5783" "0" "c.5783G>A" "r.(?)" "p.(Arg1928His)" "" "0000931236" "00015829" "30" "9800" "0" "9800" "0" "c.9800G>A" "r.(?)" "p.(Arg3267His)" "" "0000951526" "00015829" "30" "2528" "0" "2528" "0" "c.2528C>T" "r.(?)" "p.(Pro843Leu)" "" "0000951527" "00015829" "30" "5707" "0" "5707" "0" "c.5707C>T" "r.(?)" "p.(Arg1903Cys)" "" "0000951528" "00015829" "30" "5708" "0" "5708" "0" "c.5708G>T" "r.(?)" "p.(Arg1903Leu)" "" "0000951529" "00015829" "30" "6310" "0" "6310" "0" "c.6310C>T" "r.(?)" "p.(His2104Tyr)" "" "0000951530" "00015829" "30" "9801" "0" "9801" "0" "c.9801C>T" "r.(?)" "p.(=)" "" "0000984060" "00015829" "50" "139" "0" "139" "0" "c.139G>C" "r.(?)" "p.(Asp47His)" "" "0000984061" "00015829" "50" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Ala88Thr)" "" "0000984062" "00015829" "50" "267" "3" "267" "3" "c.267+3A>G" "r.spl?" "p.?" "" "0000984063" "00015829" "30" "1936" "3" "1936" "3" "c.1936+3G>T" "r.spl?" "p.?" "" "0000984064" "00015829" "50" "3166" "-7" "3166" "-7" "c.3166-7T>G" "r.(=)" "p.(=)" "" "0000984065" "00015829" "50" "4462" "0" "4462" "0" "c.4462C>T" "r.(?)" "p.(Arg1488Trp)" "" "0000984066" "00015829" "50" "4471" "0" "4471" "0" "c.4471G>T" "r.(?)" "p.(Glu1491*)" "" "0000984067" "00015829" "30" "4564" "-6" "4564" "-6" "c.4564-6C>T" "r.(=)" "p.(=)" "" "0000984068" "00015829" "10" "5634" "0" "5634" "0" "c.5634C>T" "r.(?)" "p.(Asp1878=)" "" "0000984069" "00015829" "50" "6020" "0" "6020" "0" "c.6020C>T" "r.(?)" "p.(Thr2007Met)" "" "0000984070" "00015829" "10" "7074" "0" "7074" "0" "c.7074T>C" "r.(?)" "p.(Pro2358=)" "" "0000984071" "00015829" "10" "7485" "0" "7485" "0" "c.7485C>T" "r.(?)" "p.(Ile2495=)" "" "0000984072" "00015829" "10" "7536" "0" "7536" "0" "c.7536G>A" "r.(?)" "p.(Pro2512=)" "" "0000984073" "00015829" "70" "8680" "0" "8689" "0" "c.8680_8689del" "r.(?)" "p.(Ser2894Profs*24)" "" "0000984074" "00015829" "50" "9064" "0" "9064" "0" "c.9064C>G" "r.(?)" "p.(Leu3022Val)" "" "0000984075" "00015829" "50" "9217" "0" "9217" "0" "c.9217G>A" "r.(?)" "p.(Val3073Met)" "" "0001005854" "00015829" "30" "157" "0" "159" "0" "c.157_159del" "r.(?)" "p.(Glu53del)" "" "0001005855" "00015829" "50" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Cys)" "" "0001005856" "00015829" "30" "4948" "0" "4948" "0" "c.4948C>T" "r.(?)" "p.(Arg1650Trp)" "" "0001005857" "00015829" "30" "5680" "0" "5680" "0" "c.5680G>A" "r.(?)" "p.(Val1894Ile)" "" "0001005858" "00015829" "30" "7058" "0" "7058" "0" "c.7058C>G" "r.(?)" "p.(Pro2353Arg)" "" "0001005859" "00015829" "30" "7300" "0" "7300" "0" "c.7300C>A" "r.(?)" "p.(Leu2434Ile)" "" "0001005860" "00015829" "50" "7333" "0" "7333" "0" "c.7333G>A" "r.(?)" "p.(Ala2445Thr)" "" "0001005861" "00015829" "30" "7772" "0" "7772" "0" "c.7772A>G" "r.(?)" "p.(Lys2591Arg)" "" "0001005862" "00015829" "50" "8260" "0" "8260" "0" "c.8260A>G" "r.(?)" "p.(Thr2754Ala)" "" "0001005863" "00015829" "50" "8576" "0" "8576" "0" "c.8576G>C" "r.(?)" "p.(Cys2859Ser)" "" "0001005864" "00015829" "30" "8894" "0" "8894" "0" "c.8894C>T" "r.(?)" "p.(Ala2965Val)" "" "0001005865" "00015829" "50" "9297" "0" "9297" "0" "c.9297G>T" "r.(?)" "p.(Lys3099Asn)" "" "0001005866" "00015829" "50" "9298" "0" "9298" "0" "c.9298C>T" "r.(?)" "p.(Pro3100Ser)" "" "0001021109" "00015829" "90" "3109" "0" "3109" "0" "c.3109G>T" "r.(?)" "p.(Glu1037Ter)" "15" "0001021110" "00015829" "90" "6922" "-84" "7025" "-569" "c.6922-84_7025-569del" "r.?" "p.?" "30i_31i" "0001021111" "00015829" "90" "5767" "0" "5767" "0" "c.5767C>T" "r.(?)" "p.(Arg1923Ter)" "28" "0001021112" "00015829" "90" "5767" "0" "5767" "0" "c.5767C>T" "r.(?)" "p.(Arg1923Ter)" "28" "0001021113" "00015829" "90" "1937" "-1" "1937" "-1" "c.1937-1G>C" "r.spl" "p.?" "12i" "0001021114" "00015829" "90" "6329" "0" "6329" "0" "c.6329G>A" "r.(?)" "p.(Trp2110Ter)" "30" "0001021115" "00015829" "90" "4813" "0" "4813" "0" "c.4813C>T" "r.(?)" "p.(Gln1605Ter)" "26" "0001021116" "00015829" "90" "7690" "1" "7690" "1" "c.7690+1G>A" "r.spl" "p.?" "35i" "0001021117" "00015829" "90" "1680" "-1" "1680" "-1" "c.1680-1G>C" "r.spl" "p.?" "10i" "0001021118" "00015829" "90" "1336" "0" "1336" "0" "c.1336C>T" "r.(?)" "p.(Gln446Ter)" "8" "0001021119" "00015829" "90" "844" "0" "844" "0" "c.844dup" "r.(?)" "p.(Glu282GlyfsTer46)" "5" "0001021120" "00015829" "90" "366" "0" "369" "0" "c.366_369del" "r.(?)" "p.(Ser123ThrfsTer129)" "3" "0001021121" "00015829" "90" "844" "0" "844" "0" "c.844dup" "r.(?)" "p.(Glu282GlyfsTer46)" "5" "0001021122" "00015829" "90" "2980" "0" "2992" "0" "c.2980_2992del" "r.(?)" "p.(Ala995GlyfsTer59)" "15" "0001021123" "00015829" "90" "8752" "0" "8752" "0" "c.8752C>T" "r.(?)" "p.(Arg2918Ter)" "39" "0001021124" "00015829" "90" "8752" "0" "8752" "0" "c.8752C>T" "r.(?)" "p.(Arg2918Ter)" "39" "0001021125" "00015829" "90" "1042" "0" "1042" "0" "c.1042G>T" "r.(?)" "p.(Glu348Ter)" "7" "0001021126" "00015829" "90" "4976" "0" "4980" "0" "c.4976_4980del" "r.(?)" "p.(Lys1659ThrfsTer8)" "27" "0001021127" "00015829" "90" "6711" "0" "6711" "0" "c.6711del" "r.(?)" "p.(Glu2237AspfsTer8)" "30" "0001021128" "00015829" "90" "605" "0" "605" "0" "c.605del" "r.(?)" "p.(Asp202AlafsTer51)" "3" "0001021129" "00015829" "90" "6384" "0" "6385" "0" "c.6384_6385del" "r.(?)" "p.(Cys2129Ter)" "30" "0001021130" "00015829" "90" "3019" "0" "3020" "0" "c.3019_3020del" "r.(?)" "p.(Leu1007SerfsTer50)" "15" "0001021131" "00015829" "90" "1388" "0" "1388" "0" "c.1388C>G" "r.(?)" "p.(Ser463Ter)" "9" "0001021132" "00015829" "90" "5992" "0" "5992" "0" "c.5992C>T" "r.(?)" "p.(Gln1998Ter)" "28" "0001021133" "00015829" "90" "886" "0" "886" "0" "c.886C>T" "r.(?)" "p.(Gln296Ter)" "5" "0001021134" "00015829" "90" "1208" "-1" "1208" "-1" "c.1208-1G>A" "r.spl" "p.?" "8i" "0001021135" "00015829" "90" "8846" "0" "8846" "0" "c.8846del" "r.(?)" "p.(Gly2949AlafsTer6)" "39" "0001021136" "00015829" "90" "5365" "0" "5365" "0" "c.5365C>T" "r.(?)" "p.(Gln1789Ter)" "28" "0001021137" "00015829" "90" "4542" "0" "4542" "0" "c.4542del" "r.(?)" "p.(Trp1515GlyfsTer22)" "23" "0001021138" "00015829" "90" "9078" "0" "9078" "0" "c.9078del" "r.(?)" "p.(Ser3027AlafsTer23)" "40" "0001021139" "00015829" "90" "9316" "0" "9316" "0" "c.9316C>T" "r.(?)" "p.(Gln3106Ter)" "42" "0001021140" "00015829" "90" "1344" "5" "1344" "5" "c.1344+5G>A" "r.spl" "p.?" "9i" "0001021141" "00015829" "90" "2347" "0" "2347" "0" "c.2347dup" "r.(?)" "p.(Gln783ProfsTer8)" "14" "0001021142" "00015829" "90" "9460" "0" "9462" "0" "c.9460_9462del" "r.(9460_9462del)" "p.(Lys3154del)" "" "0001021143" "00015829" "90" "5767" "0" "5767" "0" "c.5767C>T" "r.(5767C>T)" "p.(Arg1923Ter)" "" "0001021144" "00015829" "90" "3460" "0" "3460" "0" "c.3460G>T" "r.(?)" "p.(Glu1154*)" "" "0001021146" "00015829" "90" "1528" "0" "1528" "0" "c.1528dup" "r.(1528dup)" "p.(Thr510Asnfs*4)" "" "0001021147" "00015829" "90" "3465" "-1" "3465" "-1" "c.3465-1G>A" "r.3465_3466del" "p.Ala1157ProfsTer36" "17i" "0001021148" "00015829" "90" "3465" "-1" "3465" "-1" "c.3465-1G>A" "r.(3465_3466del)" "p.(Ala1157ProfsTer36)" "17i" "0001027353" "00015829" "50" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Arg143His)" "" "0001027354" "00015829" "50" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169Cys)" "" "0001027355" "00015829" "50" "5994" "4" "5994" "4" "c.5994+4G>A" "r.spl?" "p.?" "" "0001027356" "00015829" "30" "6579" "0" "6579" "0" "c.6579G>A" "r.(?)" "p.(=)" "" "0001027357" "00015829" "50" "6634" "0" "6634" "0" "c.6634C>T" "r.(?)" "p.(Arg2212Trp)" "" "0001027358" "00015829" "30" "6957" "0" "6957" "0" "c.6957T>G" "r.(?)" "p.(Phe2319Leu)" "" "0001027359" "00015829" "50" "6986" "0" "6986" "0" "c.6986C>G" "r.(?)" "p.(Pro2329Arg)" "" "0001027360" "00015829" "50" "8809" "0" "8809" "0" "c.8809A>T" "r.(?)" "p.(Thr2937Ser)" "" "0001027361" "00015829" "50" "8924" "0" "8924" "0" "c.8924T>C" "r.(?)" "p.(Leu2975Pro)" "" "0001043675" "00015829" "30" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Arg143His)" "" "0001043676" "00015829" "30" "1680" "-3" "1680" "-3" "c.1680-3C>T" "r.spl?" "p.?" "" "0001043677" "00015829" "30" "1761" "10" "1761" "10" "c.1761+10C>T" "r.(=)" "p.(=)" "" "0001043678" "00015829" "30" "4584" "3" "4584" "9" "c.4584+3_4584+9delinsAAGGAGT" "r.spl?" "p.?" "" "0001043679" "00015829" "30" "8752" "-3" "8752" "-3" "c.8752-3C>T" "r.spl?" "p.?" "" "0001043680" "00015829" "50" "9820" "0" "9820" "0" "c.9820del" "r.(?)" "p.(Ser3274Profs*16)" "" "0001043681" "00015829" "30" "9968" "-3" "9968" "-3" "c.9968-3C>T" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 73 "{{screeningid}}" "{{variantid}}" "0000003967" "0000022844" "0000081063" "0000130149" "0000115143" "0000184485" "0000115144" "0000184486" "0000115145" "0000184487" "0000115146" "0000184488" "0000115147" "0000184489" "0000115148" "0000184490" "0000115149" "0000184491" "0000115150" "0000184492" "0000115151" "0000184493" "0000115152" "0000184494" "0000115153" "0000184495" "0000115154" "0000184496" "0000115155" "0000184497" "0000115156" "0000184498" "0000115157" "0000184499" "0000115158" "0000184500" "0000115159" "0000184501" "0000294218" "0000650907" "0000294219" "0000650908" "0000294220" "0000650909" "0000294222" "0000650911" "0000294223" "0000650912" "0000294224" "0000650913" "0000296621" "0000653310" "0000306013" "0000669701" "0000306014" "0000669702" "0000306015" "0000669703" "0000309104" "0000683567" "0000332760" "0000730042" "0000360676" "0000760750" "0000375629" "0000786980" "0000391295" "0000821033" "0000461760" "0001021109" "0000461761" "0001021110" "0000461762" "0001021111" "0000461763" "0001021112" "0000461764" "0001021113" "0000461764" "0001021135" "0000461765" "0001021114" "0000461766" "0001021115" "0000461767" "0001021116" "0000461768" "0001021117" "0000461768" "0001021136" "0000461769" "0001021118" "0000461770" "0001021119" "0000461771" "0001021120" "0000461771" "0001021137" "0000461772" "0001021121" "0000461773" "0001021122" "0000461774" "0001021123" "0000461775" "0001021124" "0000461776" "0001021125" "0000461777" "0001021126" "0000461778" "0001021127" "0000461779" "0001021128" "0000461779" "0001021138" "0000461780" "0001021129" "0000461781" "0001021130" "0000461782" "0001021131" "0000461783" "0001021132" "0000461783" "0001021139" "0000461784" "0001021133" "0000461784" "0001021140" "0000461785" "0001021134" "0000461785" "0001021141" "0000461786" "0001021142" "0000461786" "0001021143" "0000461787" "0001021144" "0000461788" "0001021146" "0000461789" "0001021147" "0000461790" "0001021148"