### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ALK) # 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}}" "ALK" "anaplastic lymphoma receptor tyrosine kinase" "2" "p23" "unknown" "NC_000002.11" "UD_132118722448" "" "https://www.LOVD.nl/ALK" "" "1" "427" "238" "105590" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ALK_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2023-01-05 15:56:50" "00000" "2026-01-20 18:57:21" ## 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}}" "00001412" "ALK" "anaplastic lymphoma receptor tyrosine kinase" "001" "NM_004304.4" "" "NP_004295.2" "" "" "" "-952" "5313" "4863" "29415640" "30144477" "00000" "2012-09-13 13:31:27" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "03229" "NBLST3" "neuroblastoma, susceptibility to, type 3 (NBLST-3)" "" "613014" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "05202" "neuroblastoma" "neuroblastoma" "" "" "" "" "" "00006" "2016-11-27 12:33:41" "" "" "06994" "GINGF" "fibromatosis, gingival" "" "" "" "" "" "00006" "2023-01-05 14:47:04" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ALK" "03229" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00104011" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-511A" "00204579" "" "" "" "1" "" "00000" "{DOI:de Pontual et al 2011:10.1002/humu.21442}" "" "F" "" "France" "" "0" "" "" "" "" "00204580" "" "" "" "1" "" "00000" "{DOI:de Pontual et al 2011:10.1002/humu.21442}" "" "F" "" "France" "" "0" "" "" "" "" "00292710" "" "" "" "80" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292711" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292712" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292714" "" "" "" "23" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292715" "" "" "" "103" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304816" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307257" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "0" "" "" "" "Patient 62" "00428664" "" "" "" "3" "" "00006" "{PMID:Machado 2022:35665929}, {DOI:Machado 2022:10.1002/JPER.22-0219}" "3-generation family, 3 affected (3F), grandmother/mother/daughter" "F" "" "Brazil" "" "0" "" "" "" "FamA" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00104011" "03381" "00204579" "05202" "00204580" "05202" "00292710" "00198" "00292711" "00198" "00292712" "00198" "00292714" "00198" "00292715" "00198" "00304816" "00198" "00307257" "01544" "00428664" "06994" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 01544, 03229, 03381, 05202, 06994 ## Count = 4 "{{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}}" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000081945" "03381" "00104011" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000233061" "01544" "00307257" "03753" "Unknown" "" "Unilateral" "" "00y22m" "HP:0000486" "" "" "" "" "" "" "" "" "0000319569" "06994" "00428664" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "gingival fibromatosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000104482" "00104011" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000205608" "00204579" "1" "00000" "00002" "2011-06-15 08:16:15" "00006" "2011-08-19 14:01:41" "SEQ" "DNA" "" "" "0000205609" "00204580" "1" "00000" "00002" "2011-06-15 08:16:15" "00006" "2011-08-19 14:02:47" "SEQ" "DNA" "" "" "0000293878" "00292710" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293879" "00292711" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293880" "00292712" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293882" "00292714" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293883" "00292715" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305945" "00304816" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308399" "00307257" "1" "03753" "03753" "2020-08-06 23:25:39" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000430076" "00428664" "1" "00006" "00006" "2023-01-05 15:53:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000205608" "ALK" "0000205609" "ALK" ## 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 = 139 "{{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}}" "0000011608" "3" "50" "2" "29550841" "29550841" "subst" "0" "00037" "ALK_000002" "g.29550841G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.29327975G>C" "" "VUS" "" "0000011609" "0" "50" "2" "29795988" "29795988" "subst" "0" "00037" "ALK_000001" "g.29795988T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.29573122T>G" "" "VUS" "" "0000169223" "0" "70" "2" "29551215" "29551215" "subst" "1.62876E-5" "00587" "ALK_000003" "g.29551215C>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_004304.4(ALK):c.1414+1G>A r.spl p.?" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.29328349C>T" "" "likely pathogenic" "" "0000247941" "0" "10" "2" "29940529" "29940529" "subst" "0.741718" "02325" "ALK_000067" "g.29940529A>T" "" "" "" "ALK(NM_004304.3):c.702T>A (p.P234=), ALK(NM_004304.5):c.702T>A (p.P234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29717663A>T" "" "benign" "" "0000249359" "0" "30" "2" "29450501" "29450501" "subst" "4.06078E-6" "02325" "ALK_000066" "g.29450501A>G" "" "" "" "ALK(NM_004304.5):c.2853T>C (p.D951=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29227635A>G" "" "likely benign" "" "0000249919" "0" "10" "2" "29543736" "29543736" "subst" "0.0285806" "02329" "ALK_000053" "g.29543736A>G" "" "" "" "ALK(NM_004304.3):c.1427T>C (p.V476A), ALK(NM_004304.5):c.1427T>C (p.V476A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29320870A>G" "" "benign" "" "0000250083" "0" "10" "2" "29416750" "29416750" "subst" "0.00435187" "02329" "ALK_000011" "g.29416750A>G" "" "" "" "ALK(NM_004304.5):c.4203T>C (p.Y1401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193884A>G" "" "benign" "" "0000250270" "0" "30" "2" "29451793" "29451793" "subst" "0" "02329" "ALK_000034" "g.29451793A>C" "" "" "" "ALK(NM_004304.5):c.2772T>G (p.G924=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29228927A>C" "" "likely benign" "" "0000253143" "0" "10" "2" "29543736" "29543736" "subst" "0.0285806" "01943" "ALK_000053" "g.29543736A>G" "" "" "" "ALK(NM_004304.3):c.1427T>C (p.V476A), ALK(NM_004304.5):c.1427T>C (p.V476A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29320870A>G" "" "benign" "" "0000253202" "0" "10" "2" "29940529" "29940529" "subst" "0.741718" "01943" "ALK_000067" "g.29940529A>T" "" "" "" "ALK(NM_004304.3):c.702T>A (p.P234=), ALK(NM_004304.5):c.702T>A (p.P234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29717663A>T" "" "benign" "" "0000259043" "0" "10" "2" "29543663" "29543663" "subst" "0.878278" "02325" "ALK_000051" "g.29543663T>C" "" "" "" "ALK(NM_004304.3):c.1500A>G (p.Q500=), ALK(NM_004304.5):c.1500A>G (p.Q500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29320797T>C" "" "benign" "" "0000259044" "0" "10" "2" "30143499" "30143499" "subst" "0.906623" "02325" "ALK_000065" "g.30143499G>C" "" "" "" "ALK(NM_004304.3):c.27C>G (p.L9=), ALK(NM_004304.5):c.27C>G (p.L9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29920633G>C" "" "benign" "" "0000259045" "0" "10" "2" "29446202" "29446202" "subst" "0.286475" "02325" "ALK_000026" "g.29446202G>A" "" "" "" "ALK(NM_004304.3):c.3359+6C>T, ALK(NM_004304.5):c.3359+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29223336G>A" "" "benign" "" "0000259046" "0" "10" "2" "29445458" "29445458" "subst" "0.336333" "02325" "ALK_000023" "g.29445458G>T" "" "" "" "ALK(NM_004304.3):c.3375C>A (p.G1125=), ALK(NM_004304.5):c.3375C>A (p.G1125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29222592G>T" "" "benign" "" "0000259047" "0" "10" "2" "29444076" "29444076" "subst" "0" "02325" "ALK_000019" "g.29444076G>T" "" "" "" "ALK(NM_004304.5):c.3516-375C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29221210G>T" "" "benign" "" "0000259048" "0" "10" "2" "29444095" "29444095" "subst" "0" "02325" "ALK_000020" "g.29444095C>T" "" "" "" "ALK(NM_004304.5):c.3516-394G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29221229C>T" "" "benign" "" "0000259049" "0" "10" "2" "29416572" "29416572" "subst" "0.997558" "02325" "ALK_000009" "g.29416572T>C" "" "" "" "ALK(NM_004304.3):c.4381A>G (p.I1461V), ALK(NM_004304.5):c.4381A>G (p.(Ile1461Val), p.I1461V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193706T>C" "" "benign" "" "0000259050" "0" "10" "2" "29416481" "29416481" "subst" "0.343097" "02325" "ALK_000008" "g.29416481T>C" "" "" "" "ALK(NM_004304.3):c.4472A>G (p.K1491R), ALK(NM_004304.5):c.4472A>G (p.K1491R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193615T>C" "" "benign" "" "0000259051" "0" "10" "2" "29416366" "29416366" "subst" "0.467736" "02325" "ALK_000007" "g.29416366G>C" "" "" "" "ALK(NM_004304.3):c.4587C>G (p.D1529E), ALK(NM_004304.5):c.4587C>G (p.D1529E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193500G>C" "" "benign" "" "0000259463" "0" "30" "2" "29551313" "29551313" "subst" "1.22029E-5" "02325" "ALK_000054" "g.29551313G>A" "" "" "" "ALK(NM_004304.5):c.1317C>T (p.S439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29328447G>A" "" "likely benign" "" "0000259464" "0" "30" "2" "29462651" "29462651" "subst" "0" "02325" "ALK_000043" "g.29462651G>C" "" "" "" "ALK(NM_004304.5):c.2250C>G (p.T750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29239785G>C" "" "likely benign" "" "0000259465" "0" "30" "2" "29455322" "29455322" "subst" "1.21858E-5" "02325" "ALK_000039" "g.29455322G>C" "" "" "" "ALK(NM_004304.5):c.2488-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29232456G>C" "" "likely benign" "" "0000259466" "0" "30" "2" "29455153" "29455153" "subst" "4.87773E-5" "02325" "ALK_000037" "g.29455153C>T" "" "" "" "ALK(NM_004304.5):c.2632+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29232287C>T" "" "likely benign" "" "0000259467" "0" "30" "2" "29450541" "29450541" "subst" "1.21858E-5" "02325" "ALK_000031" "g.29450541G>A" "" "" "" "ALK(NM_004304.5):c.2816-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29227675G>A" "" "likely benign" "" "0000259468" "0" "30" "2" "29443623" "29443623" "subst" "0.00137875" "02325" "ALK_000018" "g.29443623G>A" "" "" "" "ALK(NM_004304.3):c.3594C>T (p.L1198=), ALK(NM_004304.5):c.3594C>T (p.L1198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29220757G>A" "" "likely benign" "" "0000259469" "0" "30" "2" "29416168" "29416168" "subst" "0.000716006" "02325" "ALK_000006" "g.29416168G>A" "" "" "" "ALK(NM_004304.3):c.4785C>T (p.A1595=), ALK(NM_004304.5):c.4785C>T (p.A1595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193302G>A" "" "likely benign" "" "0000259470" "0" "30" "2" "30142911" "30142911" "subst" "4.06898E-6" "02325" "ALK_000062" "g.30142911G>T" "" "" "" "ALK(NM_004304.5):c.615C>A (p.S205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29920045G>T" "" "likely benign" "" "0000259471" "0" "30" "2" "29917777" "29917777" "subst" "4.07335E-6" "02325" "ALK_000060" "g.29917777C>T" "" "" "" "ALK(NM_004304.5):c.891G>A (p.E297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29694911C>T" "" "likely benign" "" "0000259639" "0" "50" "2" "29456502" "29456502" "subst" "3.65458E-5" "02325" "ALK_000041" "g.29456502G>A" "" "" "" "ALK(NM_004304.5):c.2416C>T (p.R806C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29233636G>A" "" "VUS" "" "0000260056" "0" "10" "2" "29606746" "29606747" "del" "0" "02329" "ALK_000056" "g.29606746_29606747del" "" "" "" "ALK(NM_004304.5):c.1155-20_1155-19delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29383880_29383881del" "" "benign" "" "0000260057" "0" "50" "2" "29606646" "29606646" "subst" "0.000491898" "02329" "ALK_000055" "g.29606646G>A" "" "" "" "ALK(NM_004304.5):c.1234C>T (p.R412C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29383780G>A" "" "VUS" "" "0000260058" "0" "10" "2" "29543699" "29543699" "subst" "0.00604034" "02329" "ALK_000052" "g.29543699G>A" "" "" "" "ALK(NM_004304.5):c.1464C>T (p.G488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29320833G>A" "" "benign" "" "0000260059" "0" "50" "2" "29519881" "29519881" "subst" "8.13683E-6" "02329" "ALK_000049" "g.29519881C>T" "" "" "" "ALK(NM_004304.5):c.1690G>A (p.V564M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29297015C>T" "" "VUS" "" "0000260060" "0" "10" "2" "29497967" "29497967" "subst" "0.0164311" "02329" "ALK_000044" "g.29497967G>A" "" "" "" "ALK(NM_004304.3):c.2039C>T (p.T680I), ALK(NM_004304.5):c.2039C>T (p.T680I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29275101G>A" "" "benign" "" "0000260061" "0" "30" "2" "29456440" "29456440" "subst" "0.000117797" "02329" "ALK_000040" "g.29456440G>A" "" "" "" "ALK(NM_004304.5):c.2478C>T (p.Y826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29233574G>A" "" "likely benign" "" "0000260062" "0" "30" "2" "29455276" "29455276" "subst" "0.000690333" "02329" "ALK_000038" "g.29455276G>A" "" "" "" "ALK(NM_004304.5):c.2526C>T (p.A842=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29232410G>A" "" "likely benign" "" "0000260063" "0" "30" "2" "30143264" "30143264" "subst" "0" "02329" "ALK_000064" "g.30143264G>T" "" "" "" "ALK(NM_004304.5):c.262C>A (p.R88S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29920398G>T" "" "likely benign" "" "0000260064" "0" "30" "2" "29451811" "29451811" "subst" "0.0026364" "02329" "ALK_000036" "g.29451811T>C" "" "" "" "ALK(NM_004304.5):c.2754A>G (p.R918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29228945T>C" "" "likely benign" "" "0000260065" "0" "30" "2" "29451799" "29451799" "subst" "0" "02329" "ALK_000035" "g.29451799T>C" "" "" "" "ALK(NM_004304.5):c.2766A>G (p.G922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29228933T>C" "" "likely benign" "" "0000260066" "0" "30" "2" "29451790" "29451790" "subst" "0" "02329" "ALK_000033" "g.29451790T>C" "" "" "" "ALK(NM_004304.5):c.2775A>G (p.G925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29228924T>C" "" "likely benign" "" "0000260067" "0" "10" "2" "29449798" "29449798" "subst" "0.00259623" "02329" "ALK_000028" "g.29449798G>T" "" "" "" "ALK(NM_004304.5):c.3057C>A (p.V1019=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29226932G>T" "" "benign" "" "0000260068" "0" "30" "2" "29446201" "29446201" "subst" "2.85486E-5" "02329" "ALK_000025" "g.29446201C>T" "" "" "" "ALK(NM_004304.5):c.3359+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29223335C>T" "" "likely benign" "" "0000260069" "0" "10" "2" "29445425" "29445425" "subst" "0.00646385" "02329" "ALK_000022" "g.29445425G>A" "" "" "" "ALK(NM_004304.5):c.3408C>T (p.S1136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29222559G>A" "" "benign" "" "0000260070" "0" "10" "2" "29445192" "29445192" "subst" "0.00492013" "02329" "ALK_000021" "g.29445192G>A" "" "" "" "ALK(NM_004304.5):c.3515+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29222326G>A" "" "benign" "" "0000260071" "0" "10" "2" "29443623" "29443623" "subst" "0.00137875" "02329" "ALK_000018" "g.29443623G>A" "" "" "" "ALK(NM_004304.3):c.3594C>T (p.L1198=), ALK(NM_004304.5):c.3594C>T (p.L1198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29220757G>A" "" "benign" "" "0000260072" "0" "30" "2" "29443584" "29443584" "subst" "0.000313968" "02329" "ALK_000016" "g.29443584G>T" "" "" "" "ALK(NM_004304.3):c.3633C>A (p.T1211=), ALK(NM_004304.5):c.3633C>A (p.T1211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29220718G>T" "" "likely benign" "" "0000260073" "0" "30" "2" "29416759" "29416759" "subst" "4.07777E-6" "02329" "ALK_000013" "g.29416759C>G" "" "" "" "ALK(NM_004304.5):c.4194G>C (p.P1398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193893C>G" "" "likely benign" "" "0000260074" "0" "30" "2" "29416753" "29416753" "subst" "0.000126332" "02329" "ALK_000012" "g.29416753T>G" "" "" "" "ALK(NM_004304.5):c.4200A>C (p.E1400D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193887T>G" "" "likely benign" "" "0000260075" "0" "10" "2" "29416572" "29416572" "subst" "0.997558" "02329" "ALK_000009" "g.29416572T>C" "" "" "" "ALK(NM_004304.3):c.4381A>G (p.I1461V), ALK(NM_004304.5):c.4381A>G (p.(Ile1461Val), p.I1461V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193706T>C" "" "benign" "" "0000260076" "0" "10" "2" "29416366" "29416366" "subst" "0.467736" "02329" "ALK_000007" "g.29416366G>C" "" "" "" "ALK(NM_004304.3):c.4587C>G (p.D1529E), ALK(NM_004304.5):c.4587C>G (p.D1529E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193500G>C" "" "benign" "" "0000260077" "0" "30" "2" "29416168" "29416168" "subst" "0.000716006" "02329" "ALK_000006" "g.29416168G>A" "" "" "" "ALK(NM_004304.3):c.4785C>T (p.A1595=), ALK(NM_004304.5):c.4785C>T (p.A1595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193302G>A" "" "likely benign" "" "0000260078" "0" "10" "2" "29917700" "29917700" "subst" "0.00312777" "02329" "ALK_000058" "g.29917700G>A" "" "" "" "ALK(NM_004304.3):c.952+16C>T, ALK(NM_004304.5):c.952+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29694834G>A" "" "benign" "" "0000262228" "0" "30" "2" "29416037" "29416037" "subst" "0" "01943" "ALK_000005" "g.29416037C>G" "" "" "" "ALK(NM_004304.3):c.*53G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193171C>G" "" "likely benign" "" "0000262230" "0" "10" "2" "29543663" "29543663" "subst" "0.878278" "01943" "ALK_000051" "g.29543663T>C" "" "" "" "ALK(NM_004304.3):c.1500A>G (p.Q500=), ALK(NM_004304.5):c.1500A>G (p.Q500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29320797T>C" "" "benign" "" "0000262231" "0" "10" "2" "29541299" "29541299" "subst" "0.0155077" "01943" "ALK_000050" "g.29541299C>T" "" "" "" "ALK(NM_004304.3):c.1547-29G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29318433C>T" "" "benign" "" "0000262232" "0" "10" "2" "29519631" "29519631" "subst" "0" "01943" "ALK_000048" "g.29519631C>T" "" "" "" "ALK(NM_004304.3):c.1817+123G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29296765C>T" "" "benign" "" "0000262233" "0" "10" "2" "29519622" "29519622" "subst" "0" "01943" "ALK_000047" "g.29519622C>T" "" "" "" "ALK(NM_004304.3):c.1817+132G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29296756C>T" "" "benign" "" "0000262236" "0" "30" "2" "29497967" "29497967" "subst" "0.0164311" "01943" "ALK_000044" "g.29497967G>A" "" "" "" "ALK(NM_004304.3):c.2039C>T (p.T680I), ALK(NM_004304.5):c.2039C>T (p.T680I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29275101G>A" "" "likely benign" "" "0000262237" "0" "10" "2" "29462520" "29462520" "subst" "0.0836264" "01943" "ALK_000042" "g.29462520G>A" "" "" "" "ALK(NM_004304.3):c.2355+26C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29239654G>A" "" "benign" "" "0000262238" "0" "10" "2" "30143499" "30143499" "subst" "0.906623" "01943" "ALK_000065" "g.30143499G>C" "" "" "" "ALK(NM_004304.3):c.27C>G (p.L9=), ALK(NM_004304.5):c.27C>G (p.L9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29920633G>C" "" "benign" "" "0000262240" "0" "30" "2" "29449825" "29449825" "subst" "5.68569E-5" "01943" "ALK_000030" "g.29449825G>A" "" "" "" "ALK(NM_004304.3):c.3030C>T (p.H1010=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29226959G>A" "" "likely benign" "" "0000262241" "0" "10" "2" "29449819" "29449819" "subst" "0.155965" "01943" "ALK_000029" "g.29449819C>T" "" "" "" "ALK(NM_004304.3):c.3036G>A (p.T1012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29226953C>T" "" "benign" "" "0000262242" "0" "10" "2" "29446184" "29446184" "subst" "0.341757" "01943" "ALK_000024" "g.29446184C>G" "" "" "" "ALK(NM_004304.3):c.3359+24G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29223318C>G" "" "benign" "" "0000262243" "0" "10" "2" "29446202" "29446202" "subst" "0.286475" "01943" "ALK_000026" "g.29446202G>A" "" "" "" "ALK(NM_004304.3):c.3359+6C>T, ALK(NM_004304.5):c.3359+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29223336G>A" "" "benign" "" "0000262244" "0" "10" "2" "29445458" "29445458" "subst" "0.336333" "01943" "ALK_000023" "g.29445458G>T" "" "" "" "ALK(NM_004304.3):c.3375C>A (p.G1125=), ALK(NM_004304.5):c.3375C>A (p.G1125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29222592G>T" "" "benign" "" "0000262245" "0" "10" "2" "29443617" "29443617" "subst" "0.00400795" "01943" "ALK_000017" "g.29443617C>G" "" "" "" "ALK(NM_004304.3):c.3600G>C (p.A1200=), ALK(NM_004304.5):c.3600G>C (p.A1200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29220751C>G" "" "benign" "" "0000262246" "0" "30" "2" "29443584" "29443584" "subst" "0.000313968" "01943" "ALK_000016" "g.29443584G>T" "" "" "" "ALK(NM_004304.3):c.3633C>A (p.T1211=), ALK(NM_004304.5):c.3633C>A (p.T1211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29220718G>T" "" "likely benign" "" "0000262247" "0" "10" "2" "29432625" "29432625" "subst" "0.0264877" "01943" "ALK_000015" "g.29432625C>A" "" "" "" "ALK(NM_004304.3):c.3836+27G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29209759C>A" "" "benign" "" "0000262248" "0" "10" "2" "29416794" "29416794" "subst" "0.125097" "01943" "ALK_000014" "g.29416794G>A" "" "" "" "ALK(NM_004304.3):c.4165-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193928G>A" "" "benign" "" "0000262249" "0" "30" "2" "29416678" "29416678" "subst" "5.91101E-5" "01943" "ALK_000010" "g.29416678C>T" "" "" "" "ALK(NM_004304.3):c.4275G>A (p.L1425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193812C>T" "" "likely benign" "" "0000262250" "0" "10" "2" "29416572" "29416572" "subst" "0.997558" "01943" "ALK_000009" "g.29416572T>C" "" "" "" "ALK(NM_004304.3):c.4381A>G (p.I1461V), ALK(NM_004304.5):c.4381A>G (p.(Ile1461Val), p.I1461V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193706T>C" "" "benign" "" "0000262251" "0" "10" "2" "29416481" "29416481" "subst" "0.343097" "01943" "ALK_000008" "g.29416481T>C" "" "" "" "ALK(NM_004304.3):c.4472A>G (p.K1491R), ALK(NM_004304.5):c.4472A>G (p.K1491R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193615T>C" "" "benign" "" "0000262252" "0" "10" "2" "29416366" "29416366" "subst" "0.467736" "01943" "ALK_000007" "g.29416366G>C" "" "" "" "ALK(NM_004304.3):c.4587C>G (p.D1529E), ALK(NM_004304.5):c.4587C>G (p.D1529E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193500G>C" "" "benign" "" "0000262253" "0" "30" "2" "30143057" "30143057" "subst" "0.000216999" "01943" "ALK_000063" "g.30143057G>A" "" "" "" "ALK(NM_004304.3):c.469C>T (p.P157S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29920191G>A" "" "likely benign" "" "0000262254" "0" "30" "2" "30142872" "30142872" "subst" "0" "01943" "ALK_000061" "g.30142872C>T" "" "" "" "ALK(NM_004304.3):c.654G>A (p.Q218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29920006C>T" "" "likely benign" "" "0000262255" "0" "30" "2" "29917743" "29917743" "subst" "1.22155E-5" "01943" "ALK_000059" "g.29917743C>T" "" "" "" "ALK(NM_004304.3):c.925G>A (p.A309T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29694877C>T" "" "likely benign" "" "0000262256" "0" "10" "2" "29917700" "29917700" "subst" "0.00312777" "01943" "ALK_000058" "g.29917700G>A" "" "" "" "ALK(NM_004304.3):c.952+16C>T, ALK(NM_004304.5):c.952+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29694834G>A" "" "benign" "" "0000262257" "0" "10" "2" "29755003" "29755003" "subst" "0.0163256" "01943" "ALK_000057" "g.29755003C>T" "" "" "" "ALK(NM_004304.3):c.953-21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29532137C>T" "" "benign" "" "0000343929" "0" "10" "2" "29416366" "29416366" "subst" "0.467736" "02327" "ALK_000007" "g.29416366G>C" "" "" "" "ALK(NM_004304.3):c.4587C>G (p.D1529E), ALK(NM_004304.5):c.4587C>G (p.D1529E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193500G>C" "" "benign" "" "0000346583" "0" "10" "2" "29416572" "29416572" "subst" "0.997558" "02327" "ALK_000009" "g.29416572T>C" "" "" "" "ALK(NM_004304.3):c.4381A>G (p.I1461V), ALK(NM_004304.5):c.4381A>G (p.(Ile1461Val), p.I1461V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193706T>C" "" "benign" "" "0000347424" "0" "10" "2" "29416481" "29416481" "subst" "0.343097" "02327" "ALK_000008" "g.29416481T>C" "" "" "" "ALK(NM_004304.3):c.4472A>G (p.K1491R), ALK(NM_004304.5):c.4472A>G (p.K1491R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29193615T>C" "" "benign" "" "0000435006" "0" "95" "2" "29443697" "29443697" "subst" "0" "00000" "ALK_000069" "g.29443697A>C" "" "{DOI:de Pontual et al 2011:10.1002/humu.21442}" "" "" "" "De novo" "" "" "0" "" "" "g.29220831A>C" "" "pathogenic" "" "0000435007" "0" "95" "2" "29436860" "29436860" "subst" "0" "00000" "ALK_000068" "g.29436860A>C" "" "{DOI:de Pontual et al 2011:10.1002/humu.21442}" "" "" "" "De novo" "" "" "0" "" "" "g.29213994A>C" "" "pathogenic" "" "0000515658" "0" "30" "2" "29416026" "29416029" "dup" "0" "01943" "ALK_000070" "g.29416026_29416029dup" "" "" "" "ALK(NM_004304.3):c.*61_*64dupCAAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29193160_29193163dup" "" "likely benign" "" "0000515659" "0" "50" "2" "29416157" "29416157" "subst" "0.000207337" "01943" "ALK_000071" "g.29416157G>T" "" "" "" "ALK(NM_004304.3):c.4796C>A (p.P1599H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29193291G>T" "" "VUS" "" "0000515660" "0" "10" "2" "29416615" "29416615" "subst" "0.0935028" "01943" "ALK_000072" "g.29416615G>A" "" "" "" "ALK(NM_004304.3):c.4338C>T (p.T1446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29193749G>A" "" "benign" "" "0000515661" "0" "30" "2" "29443623" "29443623" "subst" "0.00137875" "01943" "ALK_000018" "g.29443623G>A" "" "" "" "ALK(NM_004304.3):c.3594C>T (p.L1198=), ALK(NM_004304.5):c.3594C>T (p.L1198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29220757G>A" "" "likely benign" "" "0000515662" "0" "30" "2" "29449927" "29449927" "subst" "0.00032902" "01943" "ALK_000073" "g.29449927G>A" "" "" "" "ALK(NM_004304.3):c.2928C>T (p.H976=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29227061G>A" "" "likely benign" "" "0000515663" "0" "10" "2" "29451679" "29451680" "ins" "0" "01943" "ALK_000074" "g.29451679_29451680insGGGGC" "" "" "" "ALK(NM_004304.3):c.2815+74_2815+75insCGCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29228813_29228814insGGGGC" "" "benign" "" "0000515664" "0" "30" "2" "29451789" "29451789" "dup" "0" "01804" "ALK_000075" "g.29451789dup" "" "" "" "ALK(NM_004304.4):c.2781dup (p.(Cys928ValfsTer20))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29228923dup" "" "likely benign" "" "0000515666" "0" "10" "2" "29451802" "29451802" "subst" "0" "02329" "ALK_000076" "g.29451802G>C" "" "" "" "ALK(NM_004304.5):c.2763C>G (p.F921L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29228936G>C" "" "benign" "" "0000515669" "0" "10" "2" "29455267" "29455267" "subst" "0.608322" "01943" "ALK_000079" "g.29455267A>G" "" "" "" "ALK(NM_004304.3):c.2535T>C (p.G845=), ALK(NM_004304.5):c.2535T>C (p.G845=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29232401A>G" "" "benign" "" "0000515670" "0" "10" "2" "29455267" "29455267" "subst" "0.608322" "02325" "ALK_000079" "g.29455267A>G" "" "" "" "ALK(NM_004304.3):c.2535T>C (p.G845=), ALK(NM_004304.5):c.2535T>C (p.G845=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29232401A>G" "" "benign" "" "0000515671" "0" "10" "2" "29519604" "29519607" "dup" "0" "01943" "ALK_000080" "g.29519604_29519607dup" "" "" "" "ALK(NM_004304.3):c.1817+162_1817+165dupACAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29296738_29296741dup" "" "benign" "" "0000515672" "0" "10" "2" "29519606" "29519607" "dup" "0" "01943" "ALK_000081" "g.29519606_29519607dup" "" "" "" "ALK(NM_004304.3):c.1817+164_1817+165dupAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29296740_29296741dup" "" "benign" "" "0000515673" "0" "50" "2" "29917715" "29917715" "subst" "0" "02327" "ALK_000082" "g.29917715C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29694849C>T" "" "VUS" "" "0000515674" "0" "30" "2" "30142865" "30142865" "subst" "0.000159232" "01943" "ALK_000083" "g.30142865C>G" "" "" "" "ALK(NM_004304.3):c.661G>C (p.G221R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29919999C>G" "" "likely benign" "" "0000607901" "0" "50" "2" "29416760" "29416760" "subst" "6.11556E-5" "01943" "ALK_000084" "g.29416760G>A" "" "" "" "ALK(NM_004304.3):c.4193C>T (p.P1398L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29193894G>A" "" "VUS" "" "0000607902" "0" "30" "2" "29519816" "29519816" "subst" "0.000215501" "01943" "ALK_000086" "g.29519816G>A" "" "" "" "ALK(NM_004304.3):c.1755C>T (p.A585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29296950G>A" "" "likely benign" "" "0000621029" "0" "30" "2" "29416168" "29416168" "subst" "0.000716006" "01943" "ALK_000006" "g.29416168G>A" "" "" "" "ALK(NM_004304.3):c.4785C>T (p.A1595=), ALK(NM_004304.5):c.4785C>T (p.A1595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29193302G>A" "" "likely benign" "" "0000621030" "0" "30" "2" "29474102" "29474102" "subst" "4.09015E-6" "01943" "ALK_000085" "g.29474102G>C" "" "" "" "ALK(NM_004304.3):c.2073C>G (p.S691R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29251236G>C" "" "likely benign" "" "0000650567" "1" "90" "2" "29445273" "29445273" "subst" "3.65613E-5" "03575" "ALK_000087" "g.29445273G>A" "80/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "risk factor; 80 heterozygous, no homozygous; {DB:CLININrs113994091}" "Germline" "" "rs113994091" "0" "" "" "g.29222407G>A" "" "pathogenic" "" "0000650568" "1" "30" "2" "29446231" "29446231" "subst" "0.000487856" "03575" "ALK_000088" "g.29446231C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs146074150}" "Germline" "" "rs146074150" "0" "" "" "g.29223365C>T" "" "likely benign" "" "0000650569" "1" "30" "2" "29449820" "29449820" "subst" "0.00066202" "03575" "ALK_000089" "g.29449820G>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs35073634}" "Germline" "" "rs35073634" "0" "" "" "g.29226954G>A" "" "likely benign" "" "0000650571" "1" "30" "2" "29497967" "29497967" "subst" "0.0164311" "03575" "ALK_000044" "g.29497967G>A" "23/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "23 heterozygous, no homozygous; {DB:CLININrs35228363}" "Germline" "" "rs35228363" "0" "" "" "g.29275101G>A" "" "likely benign" "" "0000650572" "1" "30" "2" "29543736" "29543736" "subst" "0.0285806" "03575" "ALK_000053" "g.29543736A>G" "103/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "103 heterozygous; {DB:CLININrs35093491}" "Germline" "" "rs35093491" "0" "" "" "g.29320870A>G" "" "likely benign" "" "0000654621" "0" "10" "2" "29443623" "29443623" "subst" "0.00137875" "02327" "ALK_000018" "g.29443623G>A" "" "" "" "ALK(NM_004304.3):c.3594C>T (p.L1198=), ALK(NM_004304.5):c.3594C>T (p.L1198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29220757G>A" "" "benign" "" "0000654622" "0" "30" "2" "29456488" "29456488" "subst" "0.000312668" "01943" "ALK_000090" "g.29456488G>A" "" "" "" "ALK(NM_004304.3):c.2430C>T (p.S810=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29233622G>A" "" "likely benign" "" "0000669633" "3" "30" "2" "29543736" "29543736" "subst" "0.0285806" "03575" "ALK_000053" "g.29543736A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs35093491}" "Germline" "" "rs35093491" "0" "" "" "g.29320870A>G" "" "likely benign" "" "0000676620" "0" "50" "2" "29462632" "29462632" "subst" "1.2195E-5" "01943" "ALK_000092" "g.29462632C>T" "" "" "" "ALK(NM_004304.3):c.2269G>A (p.V757M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682711" "0" "70" "2" "29419635" "29419635" "subst" "0" "03753" "ALK_000091" "g.29419635C>T" "0.053" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000688738" "0" "10" "2" "29443617" "29443617" "subst" "0.00400795" "02329" "ALK_000017" "g.29443617C>G" "" "" "" "ALK(NM_004304.3):c.3600G>C (p.A1200=), ALK(NM_004304.5):c.3600G>C (p.A1200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688739" "0" "50" "2" "29474026" "29474026" "subst" "0.000231928" "01943" "ALK_000093" "g.29474026C>T" "" "" "" "ALK(NM_004304.3):c.2149G>A (p.E717K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688740" "0" "30" "2" "30143454" "30143454" "subst" "2.32664E-5" "01943" "ALK_000094" "g.30143454C>T" "" "" "" "ALK(NM_004304.3):c.72G>A (p.G24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718745" "0" "10" "2" "29416366" "29416366" "subst" "0.467736" "02326" "ALK_000007" "g.29416366G>C" "" "" "" "ALK(NM_004304.3):c.4587C>G (p.D1529E), ALK(NM_004304.5):c.4587C>G (p.D1529E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718746" "0" "10" "2" "29416481" "29416481" "subst" "0.343097" "02326" "ALK_000008" "g.29416481T>C" "" "" "" "ALK(NM_004304.3):c.4472A>G (p.K1491R), ALK(NM_004304.5):c.4472A>G (p.K1491R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718747" "0" "10" "2" "29416572" "29416572" "subst" "0.997558" "02326" "ALK_000009" "g.29416572T>C" "" "" "" "ALK(NM_004304.3):c.4381A>G (p.I1461V), ALK(NM_004304.5):c.4381A>G (p.(Ile1461Val), p.I1461V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000829418" "0" "50" "2" "27600408" "62081181" "dup" "0" "00000" "FSHR_000025" "g.27600408_62081181dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:27600408–62081181" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000869811" "0" "50" "2" "29416210" "29416210" "subst" "0" "03779" "ALK_000095" "g.29416210A>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000876574" "0" "90" "2" "29443613" "29443613" "subst" "0" "03779" "ALK_000096" "g.29443613C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1057519783" "0" "" "" "" "" "pathogenic" "" "0000885124" "0" "50" "2" "29498101" "29498101" "subst" "0" "02327" "ALK_000097" "g.29498101A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000909804" "21" "70" "2" "30143165" "30143165" "subst" "0" "00006" "ALK_000098" "g.30143165G>A" "" "{PMID:Machado 2022:35665929}, {DOI:Machado 2022:10.1002/JPER.22-0219}" "" "" "candidate disease gene" "Germline" "yes" "" "0" "" "" "g.29920299G>A" "" "VUS" "" "0000911686" "0" "10" "2" "29446191" "29446191" "subst" "0.000531306" "02329" "ALK_000099" "g.29446191G>A" "" "" "" "ALK(NM_004304.5):c.3359+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947828" "0" "50" "2" "29419646" "29419646" "subst" "0" "02329" "ALK_000100" "g.29419646T>C" "" "" "" "ALK(NM_004304.5):c.4154A>G (p.Y1385C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000952502" "0" "50" "2" "29436847" "29436847" "subst" "0" "03779" "ALK_000101" "g.29436847C>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1669532102" "0" "" "" "" "" "VUS" "" "0000962070" "0" "10" "2" "29416481" "29416481" "subst" "0.343097" "02329" "ALK_000008" "g.29416481T>C" "" "" "" "ALK(NM_004304.3):c.4472A>G (p.K1491R), ALK(NM_004304.5):c.4472A>G (p.K1491R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000975220" "0" "30" "2" "29416759" "29416759" "subst" "1.63111E-5" "02329" "ALK_000102" "g.29416759C>T" "" "" "" "ALK(NM_004304.5):c.4194G>A (p.P1398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975221" "0" "30" "2" "29474048" "29474048" "subst" "0.00108194" "01804" "ALK_000103" "g.29474048G>T" "" "" "" "ALK(NM_004304.5):c.2127C>A (p.(Asn709Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992807" "0" "50" "2" "29416472" "29416472" "subst" "3.65551E-5" "02327" "ALK_000104" "g.29416472C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013721" "0" "30" "2" "29416655" "29416657" "del" "0" "02329" "ALK_000105" "g.29416655_29416657del" "" "" "" "ALK(NM_004304.5):c.4303_4305delGAG (p.E1435del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013722" "0" "50" "2" "29432695" "29432695" "subst" "0" "02329" "ALK_000106" "g.29432695C>G" "" "" "" "ALK(NM_004304.5):c.3793G>C (p.V1265L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001022241" "0" "50" "2" "29498101" "29498101" "subst" "0" "04796" "ALK_000097" "g.29498101A>C" "" "" "" "" "in vitro analysis 293T cells mini-gene exon trapping assay: effect on RNA inclusion of intron sequences" "CLASSIFICATION record" "" "" "0" "" "" "g.29275235A>C" "" "VUS" "" "0001030022" "0" "50" "2" "29448411" "29448411" "subst" "0" "03779" "ALK_000107" "g.29448411G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001030034" "0" "50" "2" "29498088" "29498088" "subst" "4.46809E-5" "03779" "ALK_000108" "g.29498088C>T" "" "" "" "" "" "Unknown" "" "rs144453491" "0" "" "" "" "" "VUS" "" "0001033283" "0" "10" "2" "29416572" "29416572" "subst" "0.997558" "01804" "ALK_000009" "g.29416572T>C" "" "" "" "ALK(NM_004304.3):c.4381A>G (p.I1461V), ALK(NM_004304.5):c.4381A>G (p.(Ile1461Val), p.I1461V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001045351" "0" "50" "2" "29917798" "29917798" "subst" "0" "03779" "ALK_000109" "g.29917798C>T" "" "" "" "" "" "Unknown" "" "rs1558446122" "0" "" "" "" "" "VUS" "" "0001050570" "0" "30" "2" "29445473" "29445473" "subst" "0" "01804" "ALK_000110" "g.29445473C>A" "" "" "" "ALK(NM_004304.5):c.3360G>T (p.(Arg1120=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001063378" "0" "50" "2" "29917736" "29917736" "subst" "0.000451962" "02325" "ALK_000111" "g.29917736C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063379" "0" "50" "2" "30143500" "30143500" "subst" "0" "02325" "ALK_000112" "g.30143500A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 ALK ## Count = 139 "{{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}}" "0000011608" "00001412" "50" "1414" "375" "1414" "375" "c.1414+375C>G" "r.(=)" "p.(=)" "" "0000011609" "00001412" "50" "953" "-41006" "953" "-41006" "c.953-41006A>C" "r.(=)" "p.(=)" "" "0000169223" "00001412" "00" "1414" "1" "1414" "1" "c.1414+1G>A" "r.spl?" "p.?" "" "0000247941" "00001412" "10" "702" "0" "702" "0" "c.702T>A" "r.(?)" "p.(Pro234=)" "" "0000249359" "00001412" "30" "2853" "0" "2853" "0" "c.2853T>C" "r.(?)" "p.(Asp951=)" "" "0000249919" "00001412" "10" "1427" "0" "1427" "0" "c.1427T>C" "r.(?)" "p.(Val476Ala)" "" "0000250083" "00001412" "10" "4203" "0" "4203" "0" "c.4203T>C" "r.(?)" "p.(Tyr1401=)" "" "0000250270" "00001412" "30" "2772" "0" "2772" "0" "c.2772T>G" "r.(?)" "p.(Gly924=)" "" "0000253143" "00001412" "10" "1427" "0" "1427" "0" "c.1427T>C" "r.(?)" "p.(Val476Ala)" "" "0000253202" "00001412" "10" "702" "0" "702" "0" "c.702T>A" "r.(?)" "p.(Pro234=)" "" "0000259043" "00001412" "10" "1500" "0" "1500" "0" "c.1500A>G" "r.(?)" "p.(Gln500=)" "" "0000259044" "00001412" "10" "27" "0" "27" "0" "c.27C>G" "r.(?)" "p.(Leu9=)" "" "0000259045" "00001412" "10" "3359" "6" "3359" "6" "c.3359+6C>T" "r.(=)" "p.(=)" "" "0000259046" "00001412" "10" "3375" "0" "3375" "0" "c.3375C>A" "r.(?)" "p.(Gly1125=)" "" "0000259047" "00001412" "10" "3516" "-375" "3516" "-375" "c.3516-375C>A" "r.(=)" "p.(=)" "" "0000259048" "00001412" "10" "3516" "-394" "3516" "-394" "c.3516-394G>A" "r.(=)" "p.(=)" "" "0000259049" "00001412" "10" "4381" "0" "4381" "0" "c.4381A>G" "r.(?)" "p.(Ile1461Val)" "" "0000259050" "00001412" "10" "4472" "0" "4472" "0" "c.4472A>G" "r.(?)" "p.(Lys1491Arg)" "" "0000259051" "00001412" "10" "4587" "0" "4587" "0" "c.4587C>G" "r.(?)" "p.(Asp1529Glu)" "" "0000259463" "00001412" "30" "1317" "0" "1317" "0" "c.1317C>T" "r.(?)" "p.(Ser439=)" "" "0000259464" "00001412" "30" "2250" "0" "2250" "0" "c.2250C>G" "r.(?)" "p.(Thr750=)" "" "0000259465" "00001412" "30" "2488" "-8" "2488" "-8" "c.2488-8C>G" "r.(=)" "p.(=)" "" "0000259466" "00001412" "30" "2632" "17" "2632" "17" "c.2632+17G>A" "r.(=)" "p.(=)" "" "0000259467" "00001412" "30" "2816" "-3" "2816" "-3" "c.2816-3C>T" "r.spl?" "p.?" "" "0000259468" "00001412" "30" "3594" "0" "3594" "0" "c.3594C>T" "r.(?)" "p.(Leu1198=)" "" "0000259469" "00001412" "30" "4785" "0" "4785" "0" "c.4785C>T" "r.(?)" "p.(Ala1595=)" "" "0000259470" "00001412" "30" "615" "0" "615" "0" "c.615C>A" "r.(?)" "p.(Ser205=)" "" "0000259471" "00001412" "30" "891" "0" "891" "0" "c.891G>A" "r.(?)" "p.(Glu297=)" "" "0000259639" "00001412" "50" "2416" "0" "2416" "0" "c.2416C>T" "r.(?)" "p.(Arg806Cys)" "" "0000260056" "00001412" "10" "1155" "-20" "1155" "-19" "c.1155-20_1155-19del" "r.(=)" "p.(=)" "" "0000260057" "00001412" "50" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Cys)" "" "0000260058" "00001412" "10" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Gly488=)" "" "0000260059" "00001412" "50" "1690" "0" "1690" "0" "c.1690G>A" "r.(?)" "p.(Val564Met)" "" "0000260060" "00001412" "10" "2039" "0" "2039" "0" "c.2039C>T" "r.(?)" "p.(Thr680Ile)" "" "0000260061" "00001412" "30" "2478" "0" "2478" "0" "c.2478C>T" "r.(?)" "p.(Tyr826=)" "" "0000260062" "00001412" "30" "2526" "0" "2526" "0" "c.2526C>T" "r.(?)" "p.(Ala842=)" "" "0000260063" "00001412" "30" "262" "0" "262" "0" "c.262C>A" "r.(?)" "p.(Arg88Ser)" "" "0000260064" "00001412" "30" "2754" "0" "2754" "0" "c.2754A>G" "r.(?)" "p.(Arg918=)" "" "0000260065" "00001412" "30" "2766" "0" "2766" "0" "c.2766A>G" "r.(?)" "p.(Gly922=)" "" "0000260066" "00001412" "30" "2775" "0" "2775" "0" "c.2775A>G" "r.(?)" "p.(Gly925=)" "" "0000260067" "00001412" "10" "3057" "0" "3057" "0" "c.3057C>A" "r.(?)" "p.(Val1019=)" "" "0000260068" "00001412" "30" "3359" "7" "3359" "7" "c.3359+7G>A" "r.(=)" "p.(=)" "" "0000260069" "00001412" "10" "3408" "0" "3408" "0" "c.3408C>T" "r.(?)" "p.(Ser1136=)" "" "0000260070" "00001412" "10" "3515" "18" "3515" "18" "c.3515+18C>T" "r.(=)" "p.(=)" "" "0000260071" "00001412" "10" "3594" "0" "3594" "0" "c.3594C>T" "r.(?)" "p.(Leu1198=)" "" "0000260072" "00001412" "30" "3633" "0" "3633" "0" "c.3633C>A" "r.(?)" "p.(Thr1211=)" "" "0000260073" "00001412" "30" "4194" "0" "4194" "0" "c.4194G>C" "r.(?)" "p.(Pro1398=)" "" "0000260074" "00001412" "30" "4200" "0" "4200" "0" "c.4200A>C" "r.(?)" "p.(Glu1400Asp)" "" "0000260075" "00001412" "10" "4381" "0" "4381" "0" "c.4381A>G" "r.(?)" "p.(Ile1461Val)" "" "0000260076" "00001412" "10" "4587" "0" "4587" "0" "c.4587C>G" "r.(?)" "p.(Asp1529Glu)" "" "0000260077" "00001412" "30" "4785" "0" "4785" "0" "c.4785C>T" "r.(?)" "p.(Ala1595=)" "" "0000260078" "00001412" "10" "952" "16" "952" "16" "c.952+16C>T" "r.(=)" "p.(=)" "" "0000262228" "00001412" "30" "4916" "0" "4916" "0" "c.*53G>C" "r.(=)" "p.(=)" "" "0000262230" "00001412" "10" "1500" "0" "1500" "0" "c.1500A>G" "r.(?)" "p.(Gln500=)" "" "0000262231" "00001412" "10" "1547" "-29" "1547" "-29" "c.1547-29G>A" "r.(=)" "p.(=)" "" "0000262232" "00001412" "10" "1817" "123" "1817" "123" "c.1817+123G>A" "r.(=)" "p.(=)" "" "0000262233" "00001412" "10" "1817" "132" "1817" "132" "c.1817+132G>A" "r.(=)" "p.(=)" "" "0000262236" "00001412" "30" "2039" "0" "2039" "0" "c.2039C>T" "r.(?)" "p.(Thr680Ile)" "" "0000262237" "00001412" "10" "2355" "26" "2355" "26" "c.2355+26C>T" "r.(=)" "p.(=)" "" "0000262238" "00001412" "10" "27" "0" "27" "0" "c.27C>G" "r.(?)" "p.(Leu9=)" "" "0000262240" "00001412" "30" "3030" "0" "3030" "0" "c.3030C>T" "r.(?)" "p.(His1010=)" "" "0000262241" "00001412" "10" "3036" "0" "3036" "0" "c.3036G>A" "r.(?)" "p.(Thr1012=)" "" "0000262242" "00001412" "10" "3359" "24" "3359" "24" "c.3359+24G>C" "r.(=)" "p.(=)" "" "0000262243" "00001412" "10" "3359" "6" "3359" "6" "c.3359+6C>T" "r.(=)" "p.(=)" "" "0000262244" "00001412" "10" "3375" "0" "3375" "0" "c.3375C>A" "r.(?)" "p.(Gly1125=)" "" "0000262245" "00001412" "10" "3600" "0" "3600" "0" "c.3600G>C" "r.(?)" "p.(Ala1200=)" "" "0000262246" "00001412" "30" "3633" "0" "3633" "0" "c.3633C>A" "r.(?)" "p.(Thr1211=)" "" "0000262247" "00001412" "10" "3836" "27" "3836" "27" "c.3836+27G>T" "r.(=)" "p.(=)" "" "0000262248" "00001412" "10" "4165" "-6" "4165" "-6" "c.4165-6C>T" "r.(=)" "p.(=)" "" "0000262249" "00001412" "30" "4275" "0" "4275" "0" "c.4275G>A" "r.(?)" "p.(Leu1425=)" "" "0000262250" "00001412" "10" "4381" "0" "4381" "0" "c.4381A>G" "r.(?)" "p.(Ile1461Val)" "" "0000262251" "00001412" "10" "4472" "0" "4472" "0" "c.4472A>G" "r.(?)" "p.(Lys1491Arg)" "" "0000262252" "00001412" "10" "4587" "0" "4587" "0" "c.4587C>G" "r.(?)" "p.(Asp1529Glu)" "" "0000262253" "00001412" "30" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Pro157Ser)" "" "0000262254" "00001412" "30" "654" "0" "654" "0" "c.654G>A" "r.(?)" "p.(Gln218=)" "" "0000262255" "00001412" "30" "925" "0" "925" "0" "c.925G>A" "r.(?)" "p.(Ala309Thr)" "" "0000262256" "00001412" "10" "952" "16" "952" "16" "c.952+16C>T" "r.(=)" "p.(=)" "" "0000262257" "00001412" "10" "953" "-21" "953" "-21" "c.953-21G>A" "r.(=)" "p.(=)" "" "0000343929" "00001412" "10" "4587" "0" "4587" "0" "c.4587C>G" "r.(?)" "p.(Asp1529Glu)" "" "0000346583" "00001412" "10" "4381" "0" "4381" "0" "c.4381A>G" "r.(?)" "p.(Ile1461Val)" "" "0000347424" "00001412" "10" "4472" "0" "4472" "0" "c.4472A>G" "r.(?)" "p.(Lys1491Arg)" "" "0000435006" "00001412" "95" "3520" "0" "3520" "0" "c.3520T>G" "r.(?)" "p.(Phe1147Val)" "23" "0000435007" "00001412" "95" "3733" "0" "3733" "0" "c.3733T>G" "r.(?)" "p.(Phe1245Val)" "24" "0000515658" "00001412" "30" "4924" "0" "4927" "0" "c.*61_*64dup" "r.(=)" "p.(=)" "" "0000515659" "00001412" "50" "4796" "0" "4796" "0" "c.4796C>A" "r.(?)" "p.(Pro1599His)" "" "0000515660" "00001412" "10" "4338" "0" "4338" "0" "c.4338C>T" "r.(?)" "p.(Thr1446=)" "" "0000515661" "00001412" "30" "3594" "0" "3594" "0" "c.3594C>T" "r.(?)" "p.(Leu1198=)" "" "0000515662" "00001412" "30" "2928" "0" "2928" "0" "c.2928C>T" "r.(?)" "p.(His976=)" "" "0000515663" "00001412" "10" "2815" "74" "2815" "75" "c.2815+74_2815+75insCGCCC" "r.(=)" "p.(=)" "" "0000515664" "00001412" "30" "2781" "0" "2781" "0" "c.2781dup" "r.(?)" "p.(Cys928ValfsTer20)" "" "0000515666" "00001412" "10" "2763" "0" "2763" "0" "c.2763C>G" "r.(?)" "p.(Phe921Leu)" "" "0000515669" "00001412" "10" "2535" "0" "2535" "0" "c.2535T>C" "r.(?)" "p.(Gly845=)" "" "0000515670" "00001412" "10" "2535" "0" "2535" "0" "c.2535T>C" "r.(?)" "p.(Gly845=)" "" "0000515671" "00001412" "10" "1817" "162" "1817" "165" "c.1817+162_1817+165dup" "r.(=)" "p.(=)" "" "0000515672" "00001412" "10" "1817" "164" "1817" "165" "c.1817+164_1817+165dup" "r.(=)" "p.(=)" "" "0000515673" "00001412" "50" "952" "1" "952" "1" "c.952+1G>A" "r.spl?" "p.?" "" "0000515674" "00001412" "30" "661" "0" "661" "0" "c.661G>C" "r.(?)" "p.(Gly221Arg)" "" "0000607901" "00001412" "50" "4193" "0" "4193" "0" "c.4193C>T" "r.(?)" "p.(Pro1398Leu)" "" "0000607902" "00001412" "30" "1755" "0" "1755" "0" "c.1755C>T" "r.(?)" "p.(Ala585=)" "" "0000621029" "00001412" "30" "4785" "0" "4785" "0" "c.4785C>T" "r.(?)" "p.(Ala1595=)" "" "0000621030" "00001412" "30" "2073" "0" "2073" "0" "c.2073C>G" "r.(?)" "p.(Ser691Arg)" "" "0000650567" "00001412" "90" "3452" "0" "3452" "0" "c.3452C>T" "r.(?)" "p.(Thr1151Met)" "" "0000650568" "00001412" "30" "3336" "0" "3336" "0" "c.3336G>A" "r.(?)" "p.(Pro1112=)" "" "0000650569" "00001412" "30" "3035" "0" "3035" "0" "c.3035C>T" "r.(?)" "p.(Thr1012Met)" "" "0000650571" "00001412" "30" "2039" "0" "2039" "0" "c.2039C>T" "r.(?)" "p.(Thr680Ile)" "" "0000650572" "00001412" "30" "1427" "0" "1427" "0" "c.1427T>C" "r.(?)" "p.(Val476Ala)" "" "0000654621" "00001412" "10" "3594" "0" "3594" "0" "c.3594C>T" "r.(?)" "p.(Leu1198=)" "" "0000654622" "00001412" "30" "2430" "0" "2430" "0" "c.2430C>T" "r.(?)" "p.(Ser810=)" "" "0000669633" "00001412" "30" "1427" "0" "1427" "0" "c.1427T>C" "r.(?)" "p.(Val476Ala)" "" "0000676620" "00001412" "50" "2269" "0" "2269" "0" "c.2269G>A" "r.(?)" "p.(Val757Met)" "" "0000682711" "00001412" "70" "4164" "1" "4164" "1" "c.4164+1G>A" "r.spl?" "p.?" "" "0000688738" "00001412" "10" "3600" "0" "3600" "0" "c.3600G>C" "r.(?)" "p.(Ala1200=)" "" "0000688739" "00001412" "50" "2149" "0" "2149" "0" "c.2149G>A" "r.(?)" "p.(Glu717Lys)" "" "0000688740" "00001412" "30" "72" "0" "72" "0" "c.72G>A" "r.(?)" "p.(Gly24=)" "" "0000718745" "00001412" "10" "4587" "0" "4587" "0" "c.4587C>G" "r.(?)" "p.(Asp1529Glu)" "" "0000718746" "00001412" "10" "4472" "0" "4472" "0" "c.4472A>G" "r.(?)" "p.(Lys1491Arg)" "" "0000718747" "00001412" "10" "4381" "0" "4381" "0" "c.4381A>G" "r.(?)" "p.(Ile1461Val)" "" "0000829418" "00001412" "50" "-8388608" "0" "1820545" "0" "c.-31937656_*1815682dup" "r.0?" "p.0?" "" "0000869811" "00001412" "50" "4743" "0" "4743" "0" "c.4743T>A" "r.(?)" "p.(Asn1581Lys)" "" "0000876574" "00001412" "90" "3604" "0" "3604" "0" "c.3604G>A" "r.(?)" "p.(Gly1202Arg)" "" "0000885124" "00001412" "50" "1913" "-8" "1913" "-8" "c.1913-8T>G" "r.(=)" "p.(=)" "" "0000909804" "00001412" "70" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "" "0000911686" "00001412" "10" "3359" "17" "3359" "17" "c.3359+17C>T" "r.(=)" "p.(=)" "" "0000947828" "00001412" "50" "4154" "0" "4154" "0" "c.4154A>G" "r.(?)" "p.(Tyr1385Cys)" "" "0000952502" "00001412" "50" "3743" "3" "3743" "3" "c.3743+3G>C" "r.(?)" "p.(?)" "" "0000962070" "00001412" "10" "4472" "0" "4472" "0" "c.4472A>G" "r.(?)" "p.(Lys1491Arg)" "" "0000975220" "00001412" "30" "4194" "0" "4194" "0" "c.4194G>A" "r.(?)" "p.(=)" "" "0000975221" "00001412" "30" "2127" "0" "2127" "0" "c.2127C>A" "r.(?)" "p.(Asn709Lys)" "" "0000992807" "00001412" "50" "4481" "0" "4481" "0" "c.4481G>A" "r.(?)" "p.(Gly1494Glu)" "" "0001013721" "00001412" "30" "4303" "0" "4305" "0" "c.4303_4305del" "r.(?)" "p.(Glu1435del)" "" "0001013722" "00001412" "50" "3793" "0" "3793" "0" "c.3793G>C" "r.(?)" "p.(Val1265Leu)" "" "0001022241" "00001412" "50" "1913" "-8" "1913" "-8" "c.1913-8T>G" "r.[1912_1913ins[913-69_913-9;G;913-7_913-1],=]" "p.Thr637_Ile638insMetTer" "10i" "0001030022" "00001412" "50" "3088" "0" "3088" "0" "c.3088C>A" "r.(?)" "p.(His1030Asn)" "" "0001030034" "00001412" "50" "1918" "0" "1918" "0" "c.1918G>A" "r.(?)" "p.(Gly640Arg)" "" "0001033283" "00001412" "10" "4381" "0" "4381" "0" "c.4381A>G" "r.(?)" "p.(Ile1461Val)" "" "0001045351" "00001412" "50" "870" "0" "870" "0" "c.870G>A" "r.(?)" "p.(Trp290Ter)" "" "0001050570" "00001412" "30" "3360" "0" "3360" "0" "c.3360G>T" "r.(?)" "p.(=)" "" "0001063378" "00001412" "50" "932" "0" "932" "0" "c.932G>A" "r.(?)" "p.(Arg311His)" "" "0001063379" "00001412" "50" "26" "0" "26" "0" "c.26T>G" "r.(?)" "p.(Leu9Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000000210" "0000011608" "0000000210" "0000011609" "0000104482" "0000169223" "0000205608" "0000435006" "0000205609" "0000435007" "0000293878" "0000650567" "0000293879" "0000650568" "0000293880" "0000650569" "0000293882" "0000650571" "0000293883" "0000650572" "0000305945" "0000669633" "0000308399" "0000682711" "0000430076" "0000909804"