### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NEBL) # 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}}" "NEBL" "nebulette" "10" "p12" "unknown" "LRG_411" "UD_132085224887" "" "http://www.LOVD.nl/NEBL" "" "1" "16932" "10529" "605491" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-19 21:24:05" "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}}" "00014445" "NEBL" "transcript variant 1" "003" "NM_006393.2" "" "NP_006384.1" "" "" "" "-397" "8819" "3045" "21186531" "21068902" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04203" "ATFB" "fibrillation, atrial (ATFB)" "" "" "" "" "" "00006" "2015-02-20 20:57:29" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00065156" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "M" "?" "Switzerland" "00y04m" "0" "" "" "Europe" "SIDS227" "00128355" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "?" "Sweden" "0" "" "" "" "" "5" "00128443" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "197" "00128471" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "256" "00155287" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00290021" "" "" "" "72" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290022" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304238" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00417688" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00433879" "" "" "" "4" "" "00006" "{PMID:Malakootian 2022:35148685}" "2-generation family, 4 affected (2F, 2M)" "M" "" "Iran" "" "0" "" "" "" "FamPatIII5" "00453233" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam234Pat251" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00065156" "02087" "00128355" "00198" "00128443" "00198" "00128471" "00198" "00155287" "00198" "00290021" "00198" "00290022" "00198" "00304238" "00198" "00417688" "00352" "00433879" "04203" "00453233" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00352, 02087, 04172, 04203 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{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}}" "0000051261" "02087" "00065156" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000100573" "00198" "00128355" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100662" "00198" "00128443" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100693" "00198" "00128471" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000127790" "00198" "00155287" "01807" "Unknown" "" "HP:0001644 (Dilated cardiomyopathy)" "" "" "" "" "" "" "" "" "" "" "" "0000324257" "04203" "00433879" "00006" "Familial, autosomal dominant" "" "see paper; ..., early onset atrial fibrillation" "" "" "" "" "" "" "" "" "ATFB" "atrial fibrillation" "" "0000341879" "04172" "00453233" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065307" "00065156" "1" "01602" "01602" "2016-05-19 14:57:27" "" "" "SEQ-NG-I" "DNA" "" "" "0000128824" "00128355" "1" "02244" "02244" "2017-09-15 13:29:16" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129281" "00128443" "1" "02244" "02244" "2017-09-15 17:23:19" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129309" "00128471" "1" "02244" "02244" "2017-09-15 18:24:23" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000156151" "00155287" "1" "01807" "01807" "2018-03-21 04:48:28" "" "" "SEQ" "DNA" "" "" "0000291189" "00290021" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291190" "00290022" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305367" "00304238" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000418982" "00417688" "1" "04384" "04384" "2022-09-21 16:57:09" "" "" "SEQ-NG" "DNA" "" "" "0000435342" "00433879" "1" "00006" "00006" "2023-03-15 17:22:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000454844" "00453233" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000418982" "NEBL" ## 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 = 143 "{{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}}" "0000096984" "0" "50" "10" "21097546" "21097546" "subst" "0.00243333" "01602" "NEBL_000001" "g.21097546G>A" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs143584663" "0" "" "" "g.20808617G>A" "" "VUS" "" "0000217953" "0" "50" "10" "21106569" "21106569" "subst" "0" "02244" "NEBL_000002" "g.21106569T>C" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.20817640T>C" "" "VUS" "" "0000218434" "0" "50" "10" "21185924" "21185924" "subst" "2.43688E-5" "02244" "NEBL_000004" "g.21185924A>G" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.20896995A>G" "" "VUS" "" "0000218474" "0" "90" "10" "21157673" "21157673" "subst" "0.00209082" "02244" "NEBL_000003" "g.21157673C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.20868744C>T" "" "pathogenic" "" "0000251163" "0" "10" "10" "21106620" "21106620" "subst" "0.00240132" "02326" "NEBL_000009" "g.21106620A>G" "" "" "" "NEBL(NM_006393.2):c.2057T>C (p.V686A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20817691A>G" "" "benign" "" "0000251468" "0" "10" "10" "21120521" "21120521" "subst" "0.00139452" "02326" "NEBL_000014" "g.21120521A>C" "" "" "" "NEBL(NM_006393.2):c.1450-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20831592A>C" "" "benign" "" "0000251469" "0" "10" "10" "21461424" "21461424" "del" "0" "02326" "C10orf113_000027" "g.21461424del" "" "" "" "NEBL(NM_213569.2):c.70-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21172495del" "" "benign" "" "0000251798" "0" "30" "10" "21185931" "21185931" "subst" "0.00248152" "02326" "NEBL_000029" "g.21185931A>G" "" "" "" "NEBL(NM_006393.2):c.109T>C (p.L37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20897002A>G" "" "likely benign" "" "0000251877" "0" "30" "10" "21124452" "21124452" "subst" "0.000138742" "02326" "NEBL_000015" "g.21124452A>G" "" "" "" "NEBL(NM_006393.2):c.1439T>C (p.I480T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20835523A>G" "" "likely benign" "" "0000252183" "0" "30" "10" "21141582" "21141582" "subst" "0" "02326" "NEBL_000018" "g.21141582A>C" "" "" "" "NEBL(NM_006393.2):c.904-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20852653A>C" "" "likely benign" "" "0000252184" "0" "30" "10" "21158660" "21158660" "subst" "0.000162745" "02326" "NEBL_000021" "g.21158660A>G" "" "" "" "NEBL(NM_006393.2):c.582+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20869731A>G" "" "likely benign" "" "0000252185" "0" "30" "10" "21177152" "21177152" "del" "0" "02326" "NEBL_000025" "g.21177152del" "" "" "" "NEBL(NM_006393.2):c.259-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20888223del" "" "likely benign" "" "0000252733" "0" "50" "10" "21104609" "21104609" "subst" "0" "02326" "NEBL_000006" "g.21104609A>C" "" "" "" "NEBL(NM_006393.2):c.2186T>G (p.L729*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20815680A>C" "" "VUS" "" "0000299990" "0" "50" "10" "21129699" "21129699" "subst" "4.08223E-6" "02326" "NEBL_000016" "g.21129699C>T" "" "" "" "NEBL(NM_006393.2):c.1307G>A (p.R436K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20840770C>T" "" "VUS" "" "0000299991" "0" "10" "10" "21178889" "21178889" "subst" "0.00295883" "02326" "NEBL_000028" "g.21178889G>T" "" "" "" "NEBL(NM_006393.2):c.154-11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20889960G>T" "" "benign" "" "0000299993" "0" "30" "10" "21117460" "21117460" "subst" "0.000261466" "02326" "NEBL_000011" "g.21117460G>T" "" "" "" "NEBL(NM_006393.2):c.1775C>A (p.A592E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20828531G>T" "" "likely benign" "" "0000299994" "0" "30" "10" "21117460" "21117460" "subst" "7.35372E-5" "02326" "NEBL_000012" "g.21117460G>A" "" "" "" "NEBL(NM_006393.2):c.1775C>T (p.A592V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20828531G>A" "" "likely benign" "" "0000299995" "0" "30" "10" "21178852" "21178852" "subst" "0.00407359" "02326" "NEBL_000027" "g.21178852C>G" "" "" "" "NEBL(NM_006393.2):c.180G>C (p.K60N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20889923C>G" "" "likely benign" "" "0000299996" "0" "10" "10" "21178841" "21178841" "subst" "0.0017754" "02326" "NEBL_000026" "g.21178841T>C" "" "" "" "NEBL(NM_006393.2):c.191A>G (p.K64R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20889912T>C" "" "benign" "" "0000299997" "0" "30" "10" "21104651" "21104651" "subst" "0.00742592" "02326" "NEBL_000008" "g.21104651C>T" "" "" "" "NEBL(NM_006393.2):c.2149-5G>A, NEBL(NM_006393.3):c.2149-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20815722C>T" "" "likely benign" "" "0000299998" "0" "30" "10" "21104613" "21104613" "subst" "0.0198898" "02326" "NEBL_000007" "g.21104613T>C" "" "" "" "NEBL(NM_006393.2):c.2182A>G (p.T728A), NEBL(NM_006393.3):c.2182A>G (p.(Thr728Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20815684T>C" "" "likely benign" "" "0000299999" "0" "50" "10" "21102870" "21102870" "subst" "0.000142337" "02326" "NEBL_000005" "g.21102870T>C" "" "" "" "NEBL(NM_006393.2):c.2344A>G (p.M782V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20813941T>C" "" "VUS" "" "0000300001" "0" "10" "10" "21097546" "21097546" "subst" "0.00243333" "02326" "NEBL_000001" "g.21097546G>A" "" "" "" "NEBL(NM_006393.2):c.2654C>T (p.S885F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20808617G>A" "" "benign" "" "0000300002" "0" "50" "10" "21250605" "21250605" "subst" "0" "02326" "C10orf113_000024" "g.21250605C>T" "" "" "" "NEBL(NM_213569.2):c.353G>A (p.S118N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20961676C>T" "" "VUS" "" "0000300003" "0" "30" "10" "21169720" "21169720" "subst" "0.00322612" "02326" "NEBL_000023" "g.21169720T>C" "" "" "" "NEBL(NM_006393.2):c.480+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20880791T>C" "" "likely benign" "" "0000300004" "0" "30" "10" "21158728" "21158728" "subst" "9.34617E-5" "02326" "NEBL_000022" "g.21158728C>T" "" "" "" "NEBL(NM_006393.2):c.523G>A (p.A175T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20869799C>T" "" "likely benign" "" "0000300005" "0" "50" "10" "21186077" "21186077" "subst" "0" "02326" "NEBL_000030" "g.21186077C>T" "" "" "" "NEBL(NM_006393.2):c.58G>A (p.E20K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20897148C>T" "" "VUS" "" "0000300006" "0" "30" "10" "21157673" "21157673" "subst" "0.00209082" "02326" "NEBL_000003" "g.21157673C>T" "" "" "" "NEBL(NM_006393.2):c.604G>A (p.G202R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20868744C>T" "" "likely benign" "" "0000300007" "0" "10" "10" "21157621" "21157621" "subst" "0.0195" "02326" "NEBL_000020" "g.21157621G>T" "" "" "" "NEBL(NM_006393.2):c.656C>A (p.A219D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20868692G>T" "" "benign" "" "0000300008" "0" "10" "10" "21461423" "21461424" "del" "0" "02326" "C10orf113_000025" "g.21461423_21461424del" "" "" "" "NEBL(NM_213569.2):c.70-6_70-5delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21172494_21172495del" "" "benign" "" "0000300009" "0" "10" "10" "21461424" "21461424" "dup" "0" "02326" "C10orf113_000028" "g.21461424dup" "" "" "" "NEBL(NM_213569.2):c.70-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21172495dup" "" "benign" "" "0000300010" "0" "10" "10" "21461423" "21461424" "dup" "0" "02326" "C10orf113_000026" "g.21461423_21461424dup" "" "" "" "NEBL(NM_213569.2):c.70-6_70-5dupTT, NEBL(NM_213569.2):c.70-7_70-6dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21172494_21172495dup" "" "benign" "" "0000300012" "0" "50" "10" "21147192" "21147192" "del" "0" "02326" "NEBL_000019" "g.21147192del" "" "" "" "NEBL(NM_006393.2):c.882delA (p.A295Pfs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20858263del" "" "VUS" "" "0000300013" "0" "50" "10" "21141496" "21141496" "subst" "2.44137E-5" "02326" "NEBL_000017" "g.21141496C>A" "" "" "" "NEBL(NM_006393.2):c.986G>T (p.G329V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20852567C>A" "" "VUS" "" "0000358053" "0" "50" "10" "21108393" "21108393" "subst" "0" "01807" "NEBL_000031" "g.21108393T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.20819464T>A" "" "VUS" "" "0000539698" "0" "30" "10" "21074754" "21074754" "subst" "0" "01943" "C10orf113_000001" "g.21074754A>G" "" "" "" "NEBL(NM_006393.2):c.2967T>C (p.D989=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20785825A>G" "" "likely benign" "" "0000539699" "0" "50" "10" "21074842" "21074842" "subst" "0" "01804" "C10orf113_000002" "g.21074842C>G" "" "" "" "NEBL(NM_001173484.1):c.645G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20785913C>G" "" "VUS" "" "0000539700" "0" "30" "10" "21076179" "21076179" "subst" "0.00055032" "01943" "C10orf113_000003" "g.21076179G>A" "" "" "" "NEBL(NM_006393.2):c.2820C>T (p.H940=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20787250G>A" "" "likely benign" "" "0000539701" "0" "30" "10" "21076224" "21076224" "subst" "9.81507E-5" "02326" "C10orf113_000004" "g.21076224G>A" "" "" "" "NEBL(NM_006393.2):c.2775C>T (p.P925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20787295G>A" "" "likely benign" "" "0000539702" "0" "30" "10" "21097515" "21097515" "subst" "0.000362272" "01943" "C10orf113_000005" "g.21097515G>A" "" "" "" "NEBL(NM_006393.2):c.2685C>T (p.D895=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20808586G>A" "" "likely benign" "" "0000539703" "0" "30" "10" "21097546" "21097546" "subst" "0.00243333" "01943" "NEBL_000001" "g.21097546G>A" "" "" "" "NEBL(NM_006393.2):c.2654C>T (p.S885F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20808617G>A" "" "likely benign" "" "0000539704" "0" "30" "10" "21117460" "21117460" "subst" "7.35372E-5" "01943" "NEBL_000012" "g.21117460G>A" "" "" "" "NEBL(NM_006393.2):c.1775C>T (p.A592V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20828531G>A" "" "likely benign" "" "0000539705" "0" "30" "10" "21120394" "21120396" "dup" "0" "02326" "C10orf113_000006" "g.21120394_21120396dup" "" "" "" "NEBL(NM_006393.2):c.1560+6_1560+8dupACA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20831465_20831467dup" "" "likely benign" "" "0000539706" "0" "50" "10" "21120491" "21120491" "subst" "0" "02326" "C10orf113_000007" "g.21120491C>T" "" "" "" "NEBL(NM_006393.2):c.1471G>A (p.E491K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20831562C>T" "" "VUS" "" "0000539707" "0" "30" "10" "21120521" "21120521" "subst" "0.00139452" "01943" "NEBL_000014" "g.21120521A>C" "" "" "" "NEBL(NM_006393.2):c.1450-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20831592A>C" "" "likely benign" "" "0000539708" "0" "50" "10" "21129691" "21129691" "subst" "1.63968E-5" "01943" "C10orf113_000008" "g.21129691G>A" "" "" "" "NEBL(NM_006393.2):c.1315C>T (p.R439*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20840762G>A" "" "VUS" "" "0000539709" "0" "30" "10" "21139327" "21139327" "subst" "0" "02326" "C10orf113_000009" "g.21139327A>G" "" "" "" "NEBL(NM_006393.2):c.1113T>C (p.S371=), NEBL(NM_006393.3):c.1113T>C (p.(Ser371=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20850398A>G" "" "likely benign" "" "0000539710" "0" "10" "10" "21141470" "21141470" "subst" "0.0011102" "02326" "C10orf113_000010" "g.21141470G>A" "" "" "" "NEBL(NM_006393.2):c.1008+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20852541G>A" "" "benign" "" "0000539711" "0" "30" "10" "21141496" "21141496" "subst" "2.44137E-5" "01943" "NEBL_000017" "g.21141496C>A" "" "" "" "NEBL(NM_006393.2):c.986G>T (p.G329V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20852567C>A" "" "likely benign" "" "0000539712" "0" "30" "10" "21141510" "21141510" "subst" "5.69337E-5" "01943" "C10orf113_000011" "g.21141510A>G" "" "" "" "NEBL(NM_006393.2):c.972T>C (p.H324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20852581A>G" "" "likely benign" "" "0000539713" "0" "50" "10" "21147194" "21147194" "subst" "0" "02326" "C10orf113_000012" "g.21147194A>C" "" "" "" "NEBL(NM_006393.2):c.878T>G (p.L293W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20858265A>C" "" "VUS" "" "0000539714" "0" "50" "10" "21147214" "21147214" "dup" "0" "02326" "C10orf113_000013" "g.21147214dup" "" "" "" "NEBL(NM_006393.2):c.858dupG (p.L287Vfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20858285dup" "" "VUS" "" "0000539715" "0" "30" "10" "21148648" "21148648" "subst" "2.87151E-5" "01943" "C10orf113_000014" "g.21148648C>T" "" "" "" "NEBL(NM_006393.2):c.792G>A (p.A264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20859719C>T" "" "likely benign" "" "0000539716" "0" "50" "10" "21148709" "21148709" "del" "4.09316E-6" "01943" "C10orf113_000015" "g.21148709del" "" "" "" "NEBL(NM_006393.2):c.731delA (p.H244Lfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20859780del" "" "VUS" "" "0000539717" "0" "50" "10" "21158716" "21158716" "subst" "1.62537E-5" "02326" "C10orf113_000016" "g.21158716G>A" "" "" "" "NEBL(NM_006393.2):c.535C>T (p.R179*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20869787G>A" "" "VUS" "" "0000539718" "0" "30" "10" "21158762" "21158762" "subst" "0.000101638" "02326" "C10orf113_000017" "g.21158762A>G" "" "" "" "NEBL(NM_006393.2):c.489T>C (p.Y163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20869833A>G" "" "likely benign" "" "0000539719" "0" "30" "10" "21169720" "21169720" "subst" "0.00322612" "01943" "NEBL_000023" "g.21169720T>C" "" "" "" "NEBL(NM_006393.2):c.480+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20880791T>C" "" "likely benign" "" "0000539721" "0" "30" "10" "21177084" "21177084" "subst" "3.6566E-5" "02326" "C10orf113_000018" "g.21177084C>T" "" "" "" "NEBL(NM_006393.2):c.311G>A (p.R104Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20888155C>T" "" "likely benign" "" "0000539722" "0" "30" "10" "21177128" "21177128" "subst" "0.00125265" "02325" "C10orf113_000019" "g.21177128G>C" "" "" "" "NEBL(NM_006393.2):c.267C>G (p.Y89*), NEBL(NM_006393.3):c.267C>G (p.Y89*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20888199G>C" "" "likely benign" "" "0000539723" "0" "10" "10" "21177152" "21177152" "dup" "0" "02326" "C10orf113_000020" "g.21177152dup" "" "" "" "NEBL(NM_006393.2):c.259-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20888223dup" "" "benign" "" "0000539724" "0" "50" "10" "21178818" "21178818" "subst" "5.28219E-5" "02326" "C10orf113_000021" "g.21178818G>T" "" "" "" "NEBL(NM_006393.2):c.214C>A (p.P72T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20889889G>T" "" "VUS" "" "0000539725" "0" "30" "10" "21178850" "21178850" "subst" "8.16493E-6" "02326" "C10orf113_000022" "g.21178850G>A" "" "" "" "NEBL(NM_006393.2):c.182C>T (p.S61F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20889921G>A" "" "likely benign" "" "0000539727" "0" "10" "10" "21461423" "21461424" "dup" "0" "01943" "C10orf113_000026" "g.21461423_21461424dup" "" "" "" "NEBL(NM_213569.2):c.70-6_70-5dupTT, NEBL(NM_213569.2):c.70-7_70-6dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21172494_21172495dup" "" "benign" "" "0000539728" "0" "10" "10" "21461424" "21461424" "dup" "0" "01943" "C10orf113_000028" "g.21461424dup" "" "" "" "NEBL(NM_213569.2):c.70-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21172495dup" "" "benign" "" "0000612412" "0" "30" "10" "21074757" "21074757" "subst" "0.000203482" "02327" "C10orf113_000029" "g.21074757G>A" "" "" "" "NEBL(NM_006393.2):c.2964C>T (p.D988=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20785828G>A" "" "likely benign" "" "0000612413" "0" "50" "10" "21074787" "21074787" "subst" "3.25704E-5" "02327" "C10orf113_000030" "g.21074787G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20785858G>A" "" "VUS" "" "0000612414" "0" "50" "10" "21097594" "21097594" "subst" "8.56171E-5" "01943" "C10orf113_000031" "g.21097594T>C" "" "" "" "NEBL(NM_006393.2):c.2612-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20808665T>C" "" "VUS" "" "0000612415" "0" "50" "10" "21097594" "21097594" "subst" "8.56171E-5" "02327" "C10orf113_000031" "g.21097594T>C" "" "" "" "NEBL(NM_006393.2):c.2612-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20808665T>C" "" "VUS" "" "0000612416" "0" "30" "10" "21098826" "21098826" "subst" "0" "02327" "C10orf113_000032" "g.21098826G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20809897G>A" "" "likely benign" "" "0000612417" "0" "30" "10" "21102907" "21102907" "subst" "0.000126004" "01943" "C10orf113_000033" "g.21102907A>G" "" "" "" "NEBL(NM_006393.2):c.2307T>C (p.A769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20813978A>G" "" "likely benign" "" "0000612418" "0" "30" "10" "21102947" "21102947" "subst" "1.21948E-5" "02327" "C10orf113_000034" "g.21102947T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20814018T>G" "" "likely benign" "" "0000612419" "0" "30" "10" "21104626" "21104626" "subst" "0" "02326" "C10orf113_000035" "g.21104626C>T" "" "" "" "NEBL(NM_006393.2):c.2169G>A (p.L723=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20815697C>T" "" "likely benign" "" "0000612420" "0" "30" "10" "21106636" "21106636" "subst" "8.14598E-6" "02327" "C10orf113_000036" "g.21106636T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20817707T>C" "" "likely benign" "" "0000612421" "0" "30" "10" "21108365" "21108365" "subst" "1.62569E-5" "02327" "C10orf113_000037" "g.21108365C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20819436C>T" "" "likely benign" "" "0000612422" "0" "30" "10" "21108395" "21108395" "subst" "7.72163E-5" "02327" "C10orf113_000038" "g.21108395C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20819466C>T" "" "likely benign" "" "0000612423" "0" "30" "10" "21108410" "21108410" "subst" "4.06398E-5" "02327" "C10orf113_000039" "g.21108410C>T" "" "" "" "NEBL(NM_006393.2):c.1998G>A (p.P666=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20819481C>T" "" "likely benign" "" "0000612424" "0" "50" "10" "21120192" "21120192" "subst" "0" "02327" "C10orf113_000040" "g.21120192C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20831263C>T" "" "VUS" "" "0000612425" "0" "70" "10" "21120469" "21120469" "subst" "0" "02327" "C10orf113_000041" "g.21120469C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20831540C>T" "" "likely pathogenic" "" "0000612426" "0" "50" "10" "21134189" "21134189" "subst" "0" "01943" "C10orf113_000042" "g.21134189C>A" "" "" "" "NEBL(NM_006393.2):c.1225G>T (p.E409*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20845260C>A" "" "VUS" "" "0000612427" "0" "30" "10" "21134257" "21134257" "subst" "0" "02327" "C10orf113_000043" "g.21134257C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20845328C>T" "" "likely benign" "" "0000612428" "0" "30" "10" "21141466" "21141466" "subst" "4.90084E-5" "01943" "C10orf113_000045" "g.21141466G>C" "" "" "" "NEBL(NM_006393.2):c.1008+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20852537G>C" "" "likely benign" "" "0000612430" "0" "30" "10" "21177128" "21177128" "subst" "0.00125265" "01943" "C10orf113_000019" "g.21177128G>C" "" "" "" "NEBL(NM_006393.2):c.267C>G (p.Y89*), NEBL(NM_006393.3):c.267C>G (p.Y89*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20888199G>C" "" "likely benign" "" "0000612431" "0" "30" "10" "21185962" "21185962" "subst" "0.000243827" "01943" "C10orf113_000046" "g.21185962T>C" "" "" "" "NEBL(NM_006393.2):c.82-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20897033T>C" "" "likely benign" "" "0000612432" "0" "10" "10" "21250601" "21250601" "subst" "0.00175718" "02327" "C10orf113_000023" "g.21250601A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20961672A>G" "" "benign" "" "0000612433" "0" "10" "10" "21414816" "21414816" "subst" "0.000166646" "02327" "C10orf113_000047" "g.21414816T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21125887T>C" "" "benign" "" "0000612434" "0" "10" "10" "21461424" "21461424" "dup" "0" "02327" "C10orf113_000028" "g.21461424dup" "" "" "" "NEBL(NM_213569.2):c.70-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21172495dup" "" "benign" "" "0000622365" "0" "30" "10" "21102907" "21102907" "subst" "0.000126004" "02326" "C10orf113_000033" "g.21102907A>G" "" "" "" "NEBL(NM_006393.2):c.2307T>C (p.A769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20813978A>G" "" "likely benign" "" "0000622366" "0" "50" "10" "21139332" "21139332" "subst" "0.000910562" "01943" "C10orf113_000044" "g.21139332G>T" "" "" "" "NEBL(NM_006393.2):c.1108C>A (p.Q370K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20850403G>T" "" "VUS" "" "0000622367" "0" "30" "10" "21177128" "21177128" "subst" "0.00125265" "02326" "C10orf113_000019" "g.21177128G>C" "" "" "" "NEBL(NM_006393.2):c.267C>G (p.Y89*), NEBL(NM_006393.3):c.267C>G (p.Y89*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20888199G>C" "" "likely benign" "" "0000622368" "0" "30" "10" "21185931" "21185931" "subst" "0.00248152" "01943" "NEBL_000029" "g.21185931A>G" "" "" "" "NEBL(NM_006393.2):c.109T>C (p.L37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20897002A>G" "" "likely benign" "" "0000647878" "1" "10" "10" "21157621" "21157621" "subst" "0.0195" "03575" "NEBL_000020" "g.21157621G>T" "72/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "72 heterozygous; {DB:CLININrs2296610}" "Germline" "" "rs2296610" "0" "" "" "g.20868692G>T" "" "benign" "" "0000647879" "1" "50" "10" "21178852" "21178852" "subst" "0.00407359" "03575" "NEBL_000027" "g.21178852C>G" "5/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs41277374}" "Germline" "" "rs41277374" "0" "" "" "g.20889923C>G" "" "VUS" "" "0000656458" "0" "30" "10" "21097599" "21097599" "subst" "9.38791E-5" "02326" "C10orf113_000048" "g.21097599G>A" "" "" "" "NEBL(NM_006393.2):c.2612-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20808670G>A" "" "likely benign" "" "0000656459" "0" "30" "10" "21101734" "21101734" "subst" "0.00105313" "01943" "C10orf113_000049" "g.21101734T>C" "" "" "" "NEBL(NM_006393.2):c.2482A>G (p.I828V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20812805T>C" "" "likely benign" "" "0000656460" "0" "30" "10" "21102862" "21102862" "subst" "0.000561368" "01943" "C10orf113_000050" "g.21102862C>T" "" "" "" "NEBL(NM_006393.2):c.2346+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20813933C>T" "" "likely benign" "" "0000656461" "0" "50" "10" "21115408" "21115408" "subst" "0.000146638" "01943" "C10orf113_000051" "g.21115408G>A" "" "" "" "NEBL(NM_006393.2):c.1837C>T (p.R613*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20826479G>A" "" "VUS" "" "0000656462" "0" "30" "10" "21141489" "21141489" "subst" "0.000403131" "02326" "C10orf113_000052" "g.21141489G>A" "" "" "" "NEBL(NM_006393.2):c.993C>T (p.A331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20852560G>A" "" "likely benign" "" "0000656463" "0" "30" "10" "21169712" "21169712" "subst" "4.06379E-6" "02326" "C10orf113_000053" "g.21169712C>A" "" "" "" "NEBL(NM_006393.2):c.480+11G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20880783C>A" "" "likely benign" "" "0000669055" "3" "10" "10" "21157621" "21157621" "subst" "0.0195" "03575" "NEBL_000020" "g.21157621G>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs2296610}" "Germline" "" "rs2296610" "0" "" "" "g.20868692G>T" "" "benign" "" "0000678823" "0" "30" "10" "21074757" "21074757" "subst" "0.000203482" "02326" "C10orf113_000029" "g.21074757G>A" "" "" "" "NEBL(NM_006393.2):c.2964C>T (p.D988=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678824" "0" "50" "10" "21129774" "21129774" "subst" "8.44587E-6" "01943" "C10orf113_000054" "g.21129774T>G" "" "" "" "NEBL(NM_006393.2):c.1232A>C (p.E411A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678825" "0" "50" "10" "21141578" "21141578" "subst" "4.50742E-5" "02326" "C10orf113_000055" "g.21141578G>A" "" "" "" "NEBL(NM_006393.2):c.904C>T (p.R302*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678826" "0" "30" "10" "21157670" "21157670" "subst" "4.06716E-6" "01943" "C10orf113_000056" "g.21157670T>A" "" "" "" "NEBL(NM_006393.2):c.607A>T (p.I203L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678827" "0" "30" "10" "21186096" "21186096" "subst" "2.07209E-5" "01943" "C10orf113_000057" "g.21186096A>G" "" "" "" "NEBL(NM_006393.2):c.39T>C (p.T13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678828" "0" "30" "10" "21186108" "21186108" "subst" "0.000270925" "02326" "C10orf113_000058" "g.21186108T>G" "" "" "" "NEBL(NM_006393.2):c.27A>C (p.I9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678829" "0" "30" "10" "21186121" "21186121" "subst" "3.5859E-5" "02326" "C10orf113_000059" "g.21186121A>G" "" "" "" "NEBL(NM_006393.2):c.14T>C (p.V5A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690702" "0" "30" "10" "21098832" "21098832" "del" "0" "02325" "C10orf113_000060" "g.21098832del" "" "" "" "NEBL(NM_006393.2):c.2519-2delA, NEBL(NM_006393.3):c.2519-2delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690703" "0" "30" "10" "21117444" "21117444" "subst" "5.72686E-5" "02326" "C10orf113_000061" "g.21117444G>C" "" "" "" "NEBL(NM_006393.2):c.1776+15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690704" "0" "50" "10" "21148647" "21148647" "subst" "0" "02326" "C10orf113_000062" "g.21148647T>G" "" "" "" "NEBL(NM_006393.2):c.793A>C (p.S265R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690705" "0" "30" "10" "21157673" "21157673" "subst" "0.00209082" "01943" "NEBL_000003" "g.21157673C>T" "" "" "" "NEBL(NM_006393.2):c.604G>A (p.G202R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722778" "0" "30" "10" "21074757" "21074757" "subst" "0.000203482" "01943" "C10orf113_000029" "g.21074757G>A" "" "" "" "NEBL(NM_006393.2):c.2964C>T (p.D988=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722779" "0" "30" "10" "21098832" "21098832" "del" "0" "01943" "C10orf113_000060" "g.21098832del" "" "" "" "NEBL(NM_006393.2):c.2519-2delA, NEBL(NM_006393.3):c.2519-2delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722780" "0" "30" "10" "21108410" "21108410" "subst" "4.06398E-5" "01943" "C10orf113_000039" "g.21108410C>T" "" "" "" "NEBL(NM_006393.2):c.1998G>A (p.P666=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722781" "0" "30" "10" "21108455" "21108455" "subst" "0" "01943" "C10orf113_000063" "g.21108455A>C" "" "" "" "NEBL(NM_006393.2):c.1963-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722782" "0" "30" "10" "21117460" "21117460" "subst" "0.000261466" "01943" "NEBL_000011" "g.21117460G>T" "" "" "" "NEBL(NM_006393.2):c.1775C>A (p.A592E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722783" "0" "30" "10" "21148633" "21148633" "subst" "8.26003E-6" "02326" "C10orf113_000064" "g.21148633A>G" "" "" "" "NEBL(NM_006393.2):c.798+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722784" "0" "30" "10" "21157653" "21157653" "subst" "0.000272455" "02326" "C10orf113_000065" "g.21157653G>A" "" "" "" "NEBL(NM_006393.2):c.624C>T (p.P208=), NEBL(NM_006393.3):c.624C>T (p.P208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722785" "0" "50" "10" "21309059" "21309059" "subst" "0" "01943" "C10orf113_000066" "g.21309059T>C" "" "" "" "NEBL(NM_213569.2):c.236A>G (p.E79G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804385" "0" "30" "10" "21101734" "21101734" "subst" "0.00105313" "02326" "C10orf113_000049" "g.21101734T>C" "" "" "" "NEBL(NM_006393.2):c.2482A>G (p.I828V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804386" "0" "30" "10" "21101810" "21101810" "subst" "5.28485E-5" "01943" "C10orf113_000067" "g.21101810G>A" "" "" "" "NEBL(NM_006393.2):c.2406C>T (p.D802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804387" "0" "50" "10" "21102891" "21102891" "del" "4.06511E-5" "02325" "C10orf113_000068" "g.21102891del" "" "" "" "NEBL(NM_006393.3):c.2323delG (p.E775Kfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804388" "0" "30" "10" "21112221" "21112221" "subst" "2.45825E-5" "01943" "C10orf113_000069" "g.21112221G>A" "" "" "" "NEBL(NM_006393.2):c.1878C>T (p.Y626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804389" "0" "30" "10" "21120395" "21120395" "subst" "4.07186E-6" "02326" "C10orf113_000070" "g.21120395G>C" "" "" "" "NEBL(NM_006393.2):c.1560+7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804390" "0" "50" "10" "21120483" "21120483" "subst" "4.0708E-6" "02326" "C10orf113_000071" "g.21120483T>A" "" "" "" "NEBL(NM_006393.2):c.1479A>T (p.E493D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804391" "0" "30" "10" "21177084" "21177084" "subst" "3.6566E-5" "01943" "C10orf113_000018" "g.21177084C>T" "" "" "" "NEBL(NM_006393.2):c.311G>A (p.R104Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852470" "0" "30" "10" "21076224" "21076224" "subst" "9.81507E-5" "01943" "C10orf113_000004" "g.21076224G>A" "" "" "" "NEBL(NM_006393.2):c.2775C>T (p.P925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852471" "0" "50" "10" "21108396" "21108396" "subst" "7.31571E-5" "01943" "C10orf113_000072" "g.21108396G>A" "" "" "" "NEBL(NM_006393.2):c.2012C>T (p.P671L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852472" "0" "10" "10" "21177152" "21177152" "dup" "0" "01943" "C10orf113_000020" "g.21177152dup" "" "" "" "NEBL(NM_006393.2):c.259-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852473" "0" "50" "10" "21186066" "21186071" "del" "0" "01943" "C10orf113_000074" "g.21186066_21186071del" "" "" "" "NEBL(NM_006393.2):c.67_72delAATGAA (p.N23_E24del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861883" "0" "30" "10" "21120392" "21120392" "subst" "2.03654E-5" "01943" "C10orf113_000073" "g.21120392G>T" "" "" "" "NEBL(NM_006393.2):c.1560+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000878904" "0" "70" "10" "21157678" "21157678" "subst" "4.06772E-5" "04384" "NEBL_000032" "g.21157678C>G" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "0" "" "" "g.20868749C>G" "" "VUS" "" "0000889113" "0" "50" "10" "21169820" "21169820" "subst" "2.84451E-5" "02325" "C10orf113_000075" "g.21169820T>C" "" "" "" "NEBL(NM_006393.3):c.383A>G (p.Q128R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913262" "0" "10" "10" "21112137" "21112137" "subst" "0.0559467" "02325" "C10orf113_000076" "g.21112137A>T" "" "" "" "NEBL(NM_006393.3):c.1962T>A (p.N654K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913263" "0" "10" "10" "21120116" "21120116" "subst" "0.384626" "02325" "C10orf113_000077" "g.21120116A>G" "" "" "" "NEBL(NM_006393.3):c.1671+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913264" "0" "10" "10" "21141469" "21141469" "subst" "0.964389" "02325" "C10orf113_000078" "g.21141469T>C" "" "" "" "NEBL(NM_006393.3):c.1008+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913265" "0" "30" "10" "21157653" "21157653" "subst" "0.000272455" "02325" "C10orf113_000065" "g.21157653G>A" "" "" "" "NEBL(NM_006393.2):c.624C>T (p.P208=), NEBL(NM_006393.3):c.624C>T (p.P208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000921316" "0" "70" "10" "21177097" "21177097" "subst" "0" "00006" "NEBL_000033" "g.21177097A>G" "" "{PMID:Malakootian 2022:35148685}" "" "" "" "Germline" "no" "" "0" "" "" "g.20888168A>G" "" "VUS" "" "0000978990" "0" "30" "10" "21104613" "21104613" "subst" "0.0198898" "01804" "NEBL_000007" "g.21104613T>C" "" "" "" "NEBL(NM_006393.2):c.2182A>G (p.T728A), NEBL(NM_006393.3):c.2182A>G (p.(Thr728Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978991" "0" "30" "10" "21104651" "21104651" "subst" "0.00742592" "01804" "NEBL_000008" "g.21104651C>T" "" "" "" "NEBL(NM_006393.2):c.2149-5G>A, NEBL(NM_006393.3):c.2149-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987850" "0" "50" "10" "21148709" "21148709" "del" "4.09316E-6" "03779" "C10orf113_000015" "g.21148709del" "" "" "" "" "" "CLASSIFICATION record" "" "rs1307717293" "0" "" "" "" "" "VUS" "" "0000989745" "0" "50" "10" "21120212" "21120212" "subst" "0" "02515" "NEBL_000034" "g.21120212T>G" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "" "0" "" "" "g.20831283T>G" "" "VUS" "" "0000998234" "0" "50" "10" "21098733" "21098733" "subst" "0" "01804" "C10orf113_000079" "g.21098733A>G" "" "" "" "NEBL(NM_006393.2):c.2611+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037856" "0" "30" "10" "21139327" "21139327" "subst" "0" "01804" "C10orf113_000009" "g.21139327A>G" "" "" "" "NEBL(NM_006393.2):c.1113T>C (p.S371=), NEBL(NM_006393.3):c.1113T>C (p.(Ser371=))" "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 NEBL ## Count = 143 "{{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}}" "0000096984" "00014445" "50" "2654" "0" "2654" "0" "c.2654C>T" "r.(?)" "p.(Ser885Phe)" "" "0000217953" "00014445" "50" "2108" "0" "2108" "0" "c.2108A>G" "r.(?)" "p.(Glu703Gly)" "" "0000218434" "00014445" "50" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Met39Thr)" "" "0000218474" "00014445" "90" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Gly202Arg)" "" "0000251163" "00014445" "10" "2057" "0" "2057" "0" "c.2057T>C" "r.(?)" "p.(Val686Ala)" "" "0000251468" "00014445" "10" "1450" "-9" "1450" "-9" "c.1450-9T>G" "r.(=)" "p.(=)" "" "0000251469" "00014445" "10" "-275277" "0" "-275277" "0" "c.-275277del" "r.(?)" "p.(=)" "" "0000251798" "00014445" "30" "109" "0" "109" "0" "c.109T>C" "r.(?)" "p.(Leu37=)" "" "0000251877" "00014445" "30" "1439" "0" "1439" "0" "c.1439T>C" "r.(?)" "p.(Ile480Thr)" "" "0000252183" "00014445" "30" "904" "-4" "904" "-4" "c.904-4T>G" "r.spl?" "p.?" "" "0000252184" "00014445" "30" "582" "9" "582" "9" "c.582+9T>C" "r.(=)" "p.(=)" "" "0000252185" "00014445" "30" "259" "-8" "259" "-8" "c.259-8del" "r.(=)" "p.(=)" "" "0000252733" "00014445" "50" "2186" "0" "2186" "0" "c.2186T>G" "r.(?)" "p.(Leu729Ter)" "" "0000299990" "00014445" "50" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Arg436Lys)" "" "0000299991" "00014445" "10" "154" "-11" "154" "-11" "c.154-11C>A" "r.(=)" "p.(=)" "" "0000299993" "00014445" "30" "1775" "0" "1775" "0" "c.1775C>A" "r.(?)" "p.(Ala592Glu)" "" "0000299994" "00014445" "30" "1775" "0" "1775" "0" "c.1775C>T" "r.(?)" "p.(Ala592Val)" "" "0000299995" "00014445" "30" "180" "0" "180" "0" "c.180G>C" "r.(?)" "p.(Lys60Asn)" "" "0000299996" "00014445" "10" "191" "0" "191" "0" "c.191A>G" "r.(?)" "p.(Lys64Arg)" "" "0000299997" "00014445" "30" "2149" "-5" "2149" "-5" "c.2149-5G>A" "r.spl?" "p.?" "" "0000299998" "00014445" "30" "2182" "0" "2182" "0" "c.2182A>G" "r.(?)" "p.(Thr728Ala)" "" "0000299999" "00014445" "50" "2344" "0" "2344" "0" "c.2344A>G" "r.(?)" "p.(Met782Val)" "" "0000300001" "00014445" "10" "2654" "0" "2654" "0" "c.2654C>T" "r.(?)" "p.(Ser885Phe)" "" "0000300002" "00014445" "50" "-64471" "0" "-64471" "0" "c.-64471G>A" "r.(?)" "p.(=)" "" "0000300003" "00014445" "30" "480" "3" "480" "3" "c.480+3A>G" "r.spl?" "p.?" "" "0000300004" "00014445" "30" "523" "0" "523" "0" "c.523G>A" "r.(?)" "p.(Ala175Thr)" "" "0000300005" "00014445" "50" "58" "0" "58" "0" "c.58G>A" "r.(?)" "p.(Glu20Lys)" "" "0000300006" "00014445" "30" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Gly202Arg)" "" "0000300007" "00014445" "10" "656" "0" "656" "0" "c.656C>A" "r.(?)" "p.(Ala219Asp)" "" "0000300008" "00014445" "10" "-275278" "0" "-275277" "0" "c.-275278_-275277del" "r.(?)" "p.(=)" "" "0000300009" "00014445" "10" "-275277" "0" "-275277" "0" "c.-275277dup" "r.(?)" "p.(=)" "" "0000300010" "00014445" "10" "-275278" "0" "-275277" "0" "c.-275278_-275277dup" "r.(?)" "p.(=)" "" "0000300012" "00014445" "50" "882" "0" "882" "0" "c.882del" "r.(?)" "p.(Ala295ProfsTer43)" "" "0000300013" "00014445" "50" "986" "0" "986" "0" "c.986G>T" "r.(?)" "p.(Gly329Val)" "" "0000358053" "00014445" "50" "2015" "0" "2015" "0" "c.2015A>T" "r.(?)" "p.(Glu672Val)" "" "0000539698" "00014445" "30" "2967" "0" "2967" "0" "c.2967T>C" "r.(?)" "p.(Asp989=)" "" "0000539699" "00014445" "50" "2879" "0" "2879" "0" "c.2879G>C" "r.(?)" "p.(Arg960Pro)" "" "0000539700" "00014445" "30" "2820" "0" "2820" "0" "c.2820C>T" "r.(?)" "p.(His940=)" "" "0000539701" "00014445" "30" "2775" "0" "2775" "0" "c.2775C>T" "r.(?)" "p.(Pro925=)" "" "0000539702" "00014445" "30" "2685" "0" "2685" "0" "c.2685C>T" "r.(?)" "p.(Asp895=)" "" "0000539703" "00014445" "30" "2654" "0" "2654" "0" "c.2654C>T" "r.(?)" "p.(Ser885Phe)" "" "0000539704" "00014445" "30" "1775" "0" "1775" "0" "c.1775C>T" "r.(?)" "p.(Ala592Val)" "" "0000539705" "00014445" "30" "1560" "6" "1560" "8" "c.1560+6_1560+8dup" "r.(=)" "p.(=)" "" "0000539706" "00014445" "50" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Glu491Lys)" "" "0000539707" "00014445" "30" "1450" "-9" "1450" "-9" "c.1450-9T>G" "r.(=)" "p.(=)" "" "0000539708" "00014445" "50" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Ter)" "" "0000539709" "00014445" "30" "1113" "0" "1113" "0" "c.1113T>C" "r.(?)" "p.(Ser371=)" "" "0000539710" "00014445" "10" "1008" "4" "1008" "4" "c.1008+4C>T" "r.spl?" "p.?" "" "0000539711" "00014445" "30" "986" "0" "986" "0" "c.986G>T" "r.(?)" "p.(Gly329Val)" "" "0000539712" "00014445" "30" "972" "0" "972" "0" "c.972T>C" "r.(?)" "p.(His324=)" "" "0000539713" "00014445" "50" "878" "0" "878" "0" "c.878T>G" "r.(?)" "p.(Leu293Trp)" "" "0000539714" "00014445" "50" "858" "0" "858" "0" "c.858dup" "r.(?)" "p.(Leu287ValfsTer19)" "" "0000539715" "00014445" "30" "792" "0" "792" "0" "c.792G>A" "r.(?)" "p.(Ala264=)" "" "0000539716" "00014445" "50" "731" "0" "731" "0" "c.731del" "r.(?)" "p.(His244LeufsTer24)" "" "0000539717" "00014445" "50" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Ter)" "" "0000539718" "00014445" "30" "489" "0" "489" "0" "c.489T>C" "r.(?)" "p.(Tyr163=)" "" "0000539719" "00014445" "30" "480" "3" "480" "3" "c.480+3A>G" "r.spl?" "p.?" "" "0000539721" "00014445" "30" "311" "0" "311" "0" "c.311G>A" "r.(?)" "p.(Arg104Gln)" "" "0000539722" "00014445" "30" "267" "0" "267" "0" "c.267C>G" "r.(?)" "p.(Tyr89Ter)" "" "0000539723" "00014445" "10" "259" "-8" "259" "-8" "c.259-8dup" "r.(=)" "p.(=)" "" "0000539724" "00014445" "50" "214" "0" "214" "0" "c.214C>A" "r.(?)" "p.(Pro72Thr)" "" "0000539725" "00014445" "30" "182" "0" "182" "0" "c.182C>T" "r.(?)" "p.(Ser61Phe)" "" "0000539727" "00014445" "10" "-275278" "0" "-275277" "0" "c.-275278_-275277dup" "r.(?)" "p.(=)" "" "0000539728" "00014445" "10" "-275277" "0" "-275277" "0" "c.-275277dup" "r.(?)" "p.(=)" "" "0000612412" "00014445" "30" "2964" "0" "2964" "0" "c.2964C>T" "r.(?)" "p.(Asp988=)" "" "0000612413" "00014445" "50" "2934" "0" "2934" "0" "c.2934C>T" "r.(?)" "p.(Gly978=)" "" "0000612414" "00014445" "50" "2612" "-6" "2612" "-6" "c.2612-6A>G" "r.(=)" "p.(=)" "" "0000612415" "00014445" "50" "2612" "-6" "2612" "-6" "c.2612-6A>G" "r.(=)" "p.(=)" "" "0000612416" "00014445" "30" "2520" "0" "2520" "0" "c.2520C>T" "r.(?)" "p.(Asp840=)" "" "0000612417" "00014445" "30" "2307" "0" "2307" "0" "c.2307T>C" "r.(?)" "p.(Ala769=)" "" "0000612418" "00014445" "30" "2267" "0" "2267" "0" "c.2267A>C" "r.(?)" "p.(Gln756Pro)" "" "0000612419" "00014445" "30" "2169" "0" "2169" "0" "c.2169G>A" "r.(?)" "p.(Leu723=)" "" "0000612420" "00014445" "30" "2056" "-15" "2056" "-15" "c.2056-15A>G" "r.(=)" "p.(=)" "" "0000612421" "00014445" "30" "2043" "0" "2043" "0" "c.2043G>A" "r.(?)" "p.(Glu681=)" "" "0000612422" "00014445" "30" "2013" "0" "2013" "0" "c.2013G>A" "r.(?)" "p.(Pro671=)" "" "0000612423" "00014445" "30" "1998" "0" "1998" "0" "c.1998G>A" "r.(?)" "p.(Pro666=)" "" "0000612424" "00014445" "50" "1604" "0" "1604" "0" "c.1604G>A" "r.(?)" "p.(Gly535Glu)" "" "0000612425" "00014445" "70" "1493" "0" "1493" "0" "c.1493G>A" "r.(?)" "p.(Gly498Glu)" "" "0000612426" "00014445" "50" "1225" "0" "1225" "0" "c.1225G>T" "r.(?)" "p.(Glu409Ter)" "" "0000612427" "00014445" "30" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Arg386Lys)" "" "0000612428" "00014445" "30" "1008" "8" "1008" "8" "c.1008+8C>G" "r.(=)" "p.(=)" "" "0000612430" "00014445" "30" "267" "0" "267" "0" "c.267C>G" "r.(?)" "p.(Tyr89Ter)" "" "0000612431" "00014445" "30" "82" "-4" "82" "-4" "c.82-4A>G" "r.spl?" "p.?" "" "0000612432" "00014445" "10" "-64467" "0" "-64467" "0" "c.-64467T>C" "r.(?)" "p.(=)" "" "0000612433" "00014445" "10" "-228682" "0" "-228682" "0" "c.-228682A>G" "r.(?)" "p.(=)" "" "0000612434" "00014445" "10" "-275277" "0" "-275277" "0" "c.-275277dup" "r.(?)" "p.(=)" "" "0000622365" "00014445" "30" "2307" "0" "2307" "0" "c.2307T>C" "r.(?)" "p.(Ala769=)" "" "0000622366" "00014445" "50" "1108" "0" "1108" "0" "c.1108C>A" "r.(?)" "p.(Gln370Lys)" "" "0000622367" "00014445" "30" "267" "0" "267" "0" "c.267C>G" "r.(?)" "p.(Tyr89Ter)" "" "0000622368" "00014445" "30" "109" "0" "109" "0" "c.109T>C" "r.(?)" "p.(Leu37=)" "" "0000647878" "00014445" "10" "656" "0" "656" "0" "c.656C>A" "r.(?)" "p.(Ala219Asp)" "" "0000647879" "00014445" "50" "180" "0" "180" "0" "c.180G>C" "r.(?)" "p.(Lys60Asn)" "" "0000656458" "00014445" "30" "2612" "-11" "2612" "-11" "c.2612-11C>T" "r.(=)" "p.(=)" "" "0000656459" "00014445" "30" "2482" "0" "2482" "0" "c.2482A>G" "r.(?)" "p.(Ile828Val)" "" "0000656460" "00014445" "30" "2346" "6" "2346" "6" "c.2346+6G>A" "r.(=)" "p.(=)" "" "0000656461" "00014445" "50" "1837" "0" "1837" "0" "c.1837C>T" "r.(?)" "p.(Arg613Ter)" "" "0000656462" "00014445" "30" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Ala331=)" "" "0000656463" "00014445" "30" "480" "11" "480" "11" "c.480+11G>T" "r.(=)" "p.(=)" "" "0000669055" "00014445" "10" "656" "0" "656" "0" "c.656C>A" "r.(?)" "p.(Ala219Asp)" "" "0000678823" "00014445" "30" "2964" "0" "2964" "0" "c.2964C>T" "r.(?)" "p.(Asp988=)" "" "0000678824" "00014445" "50" "1232" "0" "1232" "0" "c.1232A>C" "r.(?)" "p.(Glu411Ala)" "" "0000678825" "00014445" "50" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Arg302Ter)" "" "0000678826" "00014445" "30" "607" "0" "607" "0" "c.607A>T" "r.(?)" "p.(Ile203Leu)" "" "0000678827" "00014445" "30" "39" "0" "39" "0" "c.39T>C" "r.(?)" "p.(Thr13=)" "" "0000678828" "00014445" "30" "27" "0" "27" "0" "c.27A>C" "r.(?)" "p.(Ile9=)" "" "0000678829" "00014445" "30" "14" "0" "14" "0" "c.14T>C" "r.(?)" "p.(Val5Ala)" "" "0000690702" "00014445" "30" "2519" "-2" "2519" "-2" "c.2519-2del" "r.spl?" "p.?" "" "0000690703" "00014445" "30" "1776" "15" "1776" "15" "c.1776+15C>G" "r.(=)" "p.(=)" "" "0000690704" "00014445" "50" "793" "0" "793" "0" "c.793A>C" "r.(?)" "p.(Ser265Arg)" "" "0000690705" "00014445" "30" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Gly202Arg)" "" "0000722778" "00014445" "30" "2964" "0" "2964" "0" "c.2964C>T" "r.(?)" "p.(Asp988=)" "" "0000722779" "00014445" "30" "2519" "-2" "2519" "-2" "c.2519-2del" "r.spl?" "p.?" "" "0000722780" "00014445" "30" "1998" "0" "1998" "0" "c.1998G>A" "r.(?)" "p.(Pro666=)" "" "0000722781" "00014445" "30" "1963" "-10" "1963" "-10" "c.1963-10T>G" "r.(=)" "p.(=)" "" "0000722782" "00014445" "30" "1775" "0" "1775" "0" "c.1775C>A" "r.(?)" "p.(Ala592Glu)" "" "0000722783" "00014445" "30" "798" "9" "798" "9" "c.798+9T>C" "r.(=)" "p.(=)" "" "0000722784" "00014445" "30" "624" "0" "624" "0" "c.624C>T" "r.(?)" "p.(Pro208=)" "" "0000722785" "00014445" "50" "-122925" "0" "-122925" "0" "c.-122925A>G" "r.(?)" "p.(=)" "" "0000804385" "00014445" "30" "2482" "0" "2482" "0" "c.2482A>G" "r.(?)" "p.(Ile828Val)" "" "0000804386" "00014445" "30" "2406" "0" "2406" "0" "c.2406C>T" "r.(?)" "p.(Asp802=)" "" "0000804387" "00014445" "50" "2323" "0" "2323" "0" "c.2323del" "r.(?)" "p.(Glu775Lysfs*9)" "" "0000804388" "00014445" "30" "1878" "0" "1878" "0" "c.1878C>T" "r.(?)" "p.(Tyr626=)" "" "0000804389" "00014445" "30" "1560" "7" "1560" "7" "c.1560+7C>G" "r.(=)" "p.(=)" "" "0000804390" "00014445" "50" "1479" "0" "1479" "0" "c.1479A>T" "r.(?)" "p.(Glu493Asp)" "" "0000804391" "00014445" "30" "311" "0" "311" "0" "c.311G>A" "r.(?)" "p.(Arg104Gln)" "" "0000852470" "00014445" "30" "2775" "0" "2775" "0" "c.2775C>T" "r.(?)" "p.(Pro925=)" "" "0000852471" "00014445" "50" "2012" "0" "2012" "0" "c.2012C>T" "r.(?)" "p.(Pro671Leu)" "" "0000852472" "00014445" "10" "259" "-8" "259" "-8" "c.259-8dup" "r.(=)" "p.(=)" "" "0000852473" "00014445" "50" "67" "0" "72" "0" "c.67_72del" "r.(?)" "p.(Asn23_Glu24del)" "" "0000861883" "00014445" "30" "1560" "10" "1560" "10" "c.1560+10C>A" "r.(=)" "p.(=)" "" "0000878904" "00014445" "70" "599" "0" "599" "0" "c.599G>C" "r.(?)" "p.(Gly200Ala)" "7" "0000889113" "00014445" "50" "383" "0" "383" "0" "c.383A>G" "r.(?)" "p.(Gln128Arg)" "" "0000913262" "00014445" "10" "1962" "0" "1962" "0" "c.1962T>A" "r.(?)" "p.(Asn654Lys)" "" "0000913263" "00014445" "10" "1671" "9" "1671" "9" "c.1671+9T>C" "r.(=)" "p.(=)" "" "0000913264" "00014445" "10" "1008" "5" "1008" "5" "c.1008+5A>G" "r.spl?" "p.?" "" "0000913265" "00014445" "30" "624" "0" "624" "0" "c.624C>T" "r.(?)" "p.(Pro208=)" "" "0000921316" "00014445" "70" "298" "0" "298" "0" "c.298T>C" "r.(?)" "p.(Ser100Pro)" "" "0000978990" "00014445" "30" "2182" "0" "2182" "0" "c.2182A>G" "r.(?)" "p.(Thr728Ala)" "" "0000978991" "00014445" "30" "2149" "-5" "2149" "-5" "c.2149-5G>A" "r.spl?" "p.?" "" "0000987850" "00014445" "50" "731" "0" "731" "0" "c.731del" "r.(?)" "p.(His244LeufsTer24)" "" "0000989745" "00014445" "50" "1584" "0" "1584" "0" "c.1584A>C" "r.(?)" "p.(Glu528Asp)" "" "0000998234" "00014445" "50" "2611" "2" "2611" "2" "c.2611+2T>C" "r.spl?" "p.?" "" "0001037856" "00014445" "30" "1113" "0" "1113" "0" "c.1113T>C" "r.(?)" "p.(Ser371=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000065307" "0000096984" "0000128824" "0000217953" "0000129281" "0000218434" "0000129309" "0000218474" "0000156151" "0000358053" "0000291189" "0000647878" "0000291190" "0000647879" "0000305367" "0000669055" "0000418982" "0000878904" "0000435342" "0000921316" "0000454844" "0000989745"