### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TH) # 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}}" "TH" "tyrosine hydroxylase" "11" "p15.5" "unknown" "NG_008128.1" "UD_132118568360" "" "http://www.LOVD.nl/TH" "" "1" "11782" "7054" "191290" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/TH_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-12-01 08:08:34" "00006" "2025-11-13 13:04:16" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00024080" "TH" "transcript variant 1" "004" "NM_199292.2" "" "NP_954986.2" "" "" "" "-19" "1891" "1587" "2193035" "2185159" "00006" "2015-12-01 08:07:55" "" "" "00025711" "TH" "transcript variant 2" "002" "NM_000360.3" "" "NP_000351.2" "" "" "" "-19" "1798" "1494" "2193035" "2185159" "00006" "2022-06-20 08:24:27" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01296" "DYT5" "dystonia, type 5, dopa-responsive type (DYT-5)" "AD;AR" "128230" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02549" "Segawa" "Segawa syndrome" "AR" "605407" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-06-20 08:22:59" "05613" "PARK" "Parkinson disease (PARK)" "" "" "" "" "" "00006" "2019-06-19 16:46:42" "00006" "2019-06-19 16:46:58" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TH" "02549" ## Individuals ## Do not remove or alter this header ## ## Count = 29 "{{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}}" "00054876" "" "" "" "1" "" "01479" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "M" "" "" "" "0" "" "" "" "Pat20" "00290342" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290343" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308031" "" "" "" "2" "" "00006" "{PMID:Mahler 2019:31056085}" "2-generation family, several affected, unaffected heterozygous carrier parents" "" "no" "Germany" "" "0" "" "" "" "Pat10" "00361539" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "15DG1573" "00372033" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "178193" "00374345" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2482" "00374873" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5861" "00411611" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00411991" "" "" "" "2" "" "00006" "{PMID:Ludecke 1995:7814018}" "2-generation family, 2 affected, unaffected heterozygous carrier parents/relatives" "" "" "Germany" "" "0" "" "" "" "family" "00412080" "" "" "" "1" "" "00006" "{PMID:Ludecke 1996:8817341}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "no" "Greece" "" "0" "" "" "" "patient" "00412081" "" "" "" "1" "" "00006" "{PMID:Van Den Heuvel 1998:9703425}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "no" "Netherlands" "" "0" "" "" "" "Fam1" "00412082" "" "" "" "1" "" "00006" "{PMID:Van Den Heuvel 1998:9703425}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "no" "Netherlands" "" "0" "" "" "" "Fam2" "00412083" "" "" "" "1" "" "00006" "{PMID:Van Den Heuvel 1998:9703425}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "no" "Netherlands" "" "0" "" "" "" "Fam3" "00412084" "" "" "" "1" "" "00006" "{PMID:Brautigam 1998:9732974}, {PMID:Wevers 1999:10407773}" "parents" "F" "no" "Netherlands" "" "0" "" "" "" "PatII" "00412085" "" "" "" "1" "" "00006" "{PMID:Brautigam 1998:9732974}, {PMID:Wevers 1999:10407773}" "parents" "M" "no" "Netherlands" "" "0" "" "" "" "PatIII" "00412086" "" "" "" "1" "" "00006" "{PMID:Brautigam 1998:9732974}, {PMID:Wevers 1999:10407773}" "parents" "F" "no" "Netherlands" "" "0" "" "" "" "PatIV" "00412087" "" "" "" "1" "" "00006" "{PMID:Brautigam 1998:9732974}, {PMID:Wevers 1999:10407773}" "parents" "M" "no" "Netherlands" "" "0" "" "" "" "PatI" "00412088" "" "" "" "2" "" "00006" "PMID:Swaans 2000:11246459}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "" "" "" "0" "" "" "" "FamA" "00412089" "" "" "" "1" "" "00006" "{PMID:Swaans 2000:11246459}" "" "M" "" "Belgium" "" "0" "" "" "" "FamB" "00412090" "" "" "" "1" "" "00006" "{PMID:Janssen 2000:11281275}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "" "Germany" "" "0" "" "" "white" "fa" "00412107" "" "" "" "1" "" "00006" "{PMID:Verbeek 2007:17696123}" "" "M" "yes" "Italy" "" "0" "" "" "" "Fam1Pat1" "00412108" "" "" "" "1" "" "00006" "{PMID:Verbeek 2007:17696123}" "" "M" "no" "Netherlands" "" "0" "" "" "" "Fam2Pat1" "00412109" "" "" "" "2" "" "00006" "{PMID:Verbeek 2007:17696123}" "2-generation family, affected brother/sister" "F;M" "yes" "Turkey" "" "0" "" "" "" "Fam3Pat1/2" "00412110" "" "" "" "2" "" "00006" "{PMID:Verbeek 2007:17696123}" "2-generation family, affected brother/sister" "F;M" "yes" "Lebanon" "" "0" "" "" "" "Fam4Pat1/2" "00412111" "" "" "" "1" "" "00006" "{PMID:Verbeek 2007:17696123}" "" "M" "no" "Fiji;India" "" "0" "" "" "" "Fam5Pat1" "00412174" "" "" "" "1" "" "00006" "{PMID:Brautigam 1999:10585338}" "" "M" "yes" "Italy" "" "0" "" "" "" "patient" "00412175" "" "" "" "3" "" "00006" "{PMID:Najmabadi 2011:21937992}" "family, 3 affected sibs" "" "yes" "Iran" "" "0" "" "" "" "Fam8600041" "00469455" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 29 "{{individualid}}" "{{diseaseid}}" "00054876" "01296" "00290342" "00198" "00290343" "00198" "00308031" "00198" "00361539" "00139" "00372033" "02549" "00374345" "00198" "00374873" "00198" "00411611" "02549" "00411991" "02549" "00412080" "05613" "00412081" "00108" "00412082" "00108" "00412083" "00108" "00412084" "00108" "00412085" "00108" "00412086" "00108" "00412087" "00108" "00412088" "00108" "00412089" "00108" "00412090" "00198" "00412107" "00108" "00412108" "00108" "00412109" "00108" "00412110" "00108" "00412111" "00108" "00412174" "00198" "00412175" "00139" "00469455" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00108, 00139, 00198, 01296, 02549, 05613 ## Count = 26 "{{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}}" "0000041541" "01296" "00054876" "01479" "Familial, autosomal recessive" "" "pure hereditary spastic paraplegia" "20y" "" "" "" "" "" "" "" "THD" "hereditary spastic paraplegia" "" "0000233457" "00198" "00308031" "00006" "Familial, autosomal recessive" "" "mild global developmental delay, regression, hypotonia" "" "" "" "" "" "" "" "" "Segawa" "developmental delay" "" "0000256944" "00139" "00361539" "00006" "Familial, autosomal recessive" "1y5m" "not syndromic; global developmental delay, axial hypotonia, appendicular hypertonia" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000267371" "02549" "00372033" "01164" "Unknown" "" "Clinical Segawa syndrome; Dopa-responsive Dystonia" "" "12y" "" "" "" "" "" "" "" "" "" "0000269555" "00198" "00374345" "00006" "Familial, X-linked" "" "Features suggestive of dystonia" "" "" "" "" "" "" "" "" "" "dystonia" "" "0000270083" "00198" "00374873" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "dystonia" "" "0000304006" "02549" "00411991" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Segawa syndrome" "" "0000304096" "05613" "00412080" "00006" "Familial, autosomal recessive" "00y03m" "see paper; ..." "" "" "" "" "" "" "" "" "Segawa" "Parkinsonism" "" "0000304097" "00108" "00412081" "00006" "Familial, autosomal recessive" "" "see paper; ..., L-DOPA-responsive dystonia" "" "" "" "" "" "" "" "" "" "dystonia" "" "0000304098" "00108" "00412082" "00006" "Familial, autosomal recessive" "" "see paper; ..., L-DOPA-responsive dystonia" "" "" "" "" "" "" "" "" "" "dystonia" "" "0000304099" "00108" "00412083" "00006" "Familial, autosomal recessive" "" "see paper; ..., L-DOPA-responsive dystonia" "" "" "" "" "" "" "" "" "" "dystonia" "" "0000304100" "00108" "00412084" "00006" "Familial, autosomal recessive" "" "see paper; ..., L-DOPA-responsive dystonia" "" "" "" "" "" "" "" "" "" "Segawa’s disease" "" "0000304101" "00108" "00412085" "00006" "Familial, autosomal recessive" "" "see paper; ..., L-DOPA-responsive dystonia" "" "" "" "" "" "" "" "" "" "Segawa’s disease" "" "0000304102" "00108" "00412086" "00006" "Familial, autosomal recessive" "" "see paper; ..., L-DOPA-responsive dystonia" "" "" "" "" "" "" "" "" "" "Segawa’s disease" "" "0000304103" "00108" "00412087" "00006" "Familial, autosomal recessive" "" "see paper; ..., L-DOPA-responsive dystonia" "" "" "" "" "" "" "" "" "" "Segawa’s disease" "" "0000304104" "00108" "00412088" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "dysopnia" "" "0000304105" "00108" "00412089" "00006" "Familial, autosomal recessive" "34y" "see paper; ..." "" "" "" "" "" "" "" "" "" "dystonia" "" "0000304106" "00198" "00412090" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe extrapyramidal movement disorder" "" "" "" "" "" "" "" "" "" "severe extrapyramidal movement disorder" "" "0000304123" "00108" "00412107" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "dystonia" "" "0000304124" "00108" "00412108" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "dystonia" "" "0000304125" "00108" "00412109" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "dystonia" "" "0000304126" "00108" "00412110" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "dystonia" "" "0000304127" "00108" "00412111" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "dystonia" "" "0000304189" "00198" "00412174" "00006" "Familial, autosomal recessive" "" "see paper; ..., respiratory distress, progressive hypotonia, dysphagia, hypokinesia, reduced facial mimicry" "" "" "" "" "" "" "" "" "" "tyrosine hydroxylase deficiency" "" "0000304190" "00139" "00412175" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe intellectual disability, infantile parkinsonism, Segawa’s syndrome" "" "" "" "" "" "" "" "" "Segawa" "intellectual disability" "" "0000354608" "00198" "00469455" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of metabolism/homeostasis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 29 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000054828" "00054876" "1" "01479" "01479" "2015-11-30 16:29:19" "" "" "SEQ-NG" "DNA" "" "" "0000291510" "00290342" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291511" "00290343" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309175" "00308031" "1" "00006" "00006" "2020-08-25 19:47:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000362767" "00361539" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000373261" "00372033" "1" "01164" "01164" "2021-05-05 16:23:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000375539" "00374345" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376067" "00374873" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000412883" "00411611" "1" "01741" "01741" "2022-06-17 14:53:26" "" "" "SEQ-NG" "DNA" "" "" "0000413263" "00411991" "1" "00006" "00006" "2022-06-20 17:54:42" "" "" "DGGE;SEQ" "DNA" "" "" "0000413353" "00412080" "1" "00006" "00006" "2022-06-21 15:39:36" "" "" "SEQ" "DNA" "" "" "0000413354" "00412081" "1" "00006" "00006" "2022-06-21 15:46:50" "" "" "SEQ;SSCA" "DNA" "" "" "0000413355" "00412082" "1" "00006" "00006" "2022-06-21 15:46:50" "" "" "SEQ;SSCA" "DNA" "" "" "0000413356" "00412083" "1" "00006" "00006" "2022-06-21 15:46:50" "" "" "SEQ;SSCA" "DNA" "" "" "0000413357" "00412084" "1" "00006" "00006" "2022-06-21 15:46:50" "" "" "SEQ;SSCA" "DNA" "" "" "0000413358" "00412085" "1" "00006" "00006" "2022-06-21 15:46:50" "" "" "SEQ;SSCA" "DNA" "" "" "0000413359" "00412086" "1" "00006" "00006" "2022-06-21 15:46:50" "" "" "SEQ;SSCA" "DNA" "" "" "0000413360" "00412087" "1" "00006" "00006" "2022-06-21 15:46:50" "" "" "SEQ;SSCA" "DNA" "" "" "0000413361" "00412088" "1" "00006" "00006" "2022-06-21 16:23:22" "" "" "SEQ;SSCA" "DNA" "" "" "0000413362" "00412089" "1" "00006" "00006" "2022-06-21 16:27:46" "" "" "SEQ;SSCA" "DNA" "" "" "0000413363" "00412090" "1" "00006" "00006" "2022-06-21 16:35:37" "" "" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000413380" "00412107" "1" "00006" "00006" "2022-06-21 17:25:53" "" "" "SEQ" "DNA" "" "" "0000413381" "00412108" "1" "00006" "00006" "2022-06-21 17:25:53" "" "" "SEQ" "DNA" "" "" "0000413382" "00412109" "1" "00006" "00006" "2022-06-21 17:25:53" "" "" "SEQ" "DNA" "" "" "0000413383" "00412110" "1" "00006" "00006" "2022-06-21 17:25:53" "" "" "SEQ" "DNA" "" "" "0000413384" "00412111" "1" "00006" "00006" "2022-06-21 17:25:53" "" "" "SEQ" "DNA" "" "" "0000413447" "00412174" "1" "00006" "00006" "2022-06-23 10:15:10" "" "" "SEQ;SSCA" "DNA" "" "" "0000413448" "00412175" "1" "00006" "00006" "2022-06-23 10:24:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471123" "00469455" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{geneid}}" "0000054828" "TH" "0000309175" "TH" "0000362767" "TH" "0000373261" "TH" "0000375539" "HPRT1" "0000376067" "TH" "0000412883" "TH" "0000413263" "TH" "0000413353" "TH" "0000413354" "TH" "0000413355" "TH" "0000413356" "TH" "0000413357" "TH" "0000413358" "TH" "0000413359" "TH" "0000413360" "TH" "0000413361" "TH" "0000413362" "TH" "0000413363" "TH" "0000413380" "TH" "0000413381" "TH" "0000413382" "TH" "0000413383" "TH" "0000413384" "TH" "0000413447" "TH" ## 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 = 185 "{{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}}" "0000084845" "3" "50" "11" "2188681" "2188681" "subst" "0.00102536" "01479" "TH_000001" "g.2188681C>T" "" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "" "Germline" "" "" "0" "" "" "g.2167451C>T" "" "VUS" "" "0000249153" "0" "10" "11" "2182004" "2182004" "subst" "0.984074" "02325" "INS_000003" "g.2182004A>G" "" "" "" "INS(NM_001185098.2):c.187+11T>C, INS-IGF2(NM_001042376.3):c.187+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2160774A>G" "" "benign" "" "0000281549" "0" "10" "11" "2181060" "2181060" "subst" "0.734296" "02325" "INS_000001" "g.2181060T>G" "" "" "" "INS(NM_001185098.2):c.*22A>C, INS-IGF2(NM_001042376.3):c.187+955A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2159830T>G" "" "benign" "" "0000311833" "0" "50" "11" "2191979" "2191979" "subst" "0" "02325" "TH_000029" "g.2191979T>G" "" "" "" "TH(NM_199292.3):c.124A>C (p.T42P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2170749T>G" "" "VUS" "" "0000311834" "0" "30" "11" "2186541" "2186541" "subst" "0.000452555" "02325" "TH_000008" "g.2186541C>T" "" "" "" "TH(NM_000360.3):c.1255G>A (p.(Val419Met)), TH(NM_199292.3):c.1348G>A (p.V450M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165311C>T" "" "likely benign" "" "0000311835" "0" "50" "11" "2186495" "2186495" "subst" "2.03414E-5" "02325" "TH_000006" "g.2186495G>C" "" "" "" "TH(NM_199292.3):c.1394C>G (p.S465C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165265G>C" "" "VUS" "" "0000311836" "0" "30" "11" "2185589" "2185589" "subst" "0.000280076" "02325" "TH_000004" "g.2185589G>A" "" "" "" "TH(NM_199292.2):c.1461C>T (p.S487=), TH(NM_199292.3):c.1461C>T (p.S487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2164359G>A" "" "likely benign" "" "0000311837" "0" "30" "11" "2185534" "2185534" "subst" "0.000208672" "02325" "TH_000003" "g.2185534C>T" "" "" "" "TH(NM_000360.4):c.1423G>A (p.(Val475Met)), TH(NM_199292.3):c.1516G>A (p.V506M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2164304C>T" "" "likely benign" "" "0000311838" "0" "30" "11" "2193001" "2193001" "subst" "0.00426569" "02325" "TH_000032" "g.2193001C>T" "" "" "" "TH(NM_199292.2):c.16G>A (p.A6T), TH(NM_199292.3):c.16G>A (p.A6T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2171771C>T" "" "likely benign" "" "0000311839" "0" "30" "11" "2190925" "2190925" "subst" "0.00955318" "02325" "TH_000026" "g.2190925C>T" "" "" "" "TH(NM_199292.2):c.360G>A (p.R120=), TH(NM_199292.3):c.360G>A (p.R120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2169695C>T" "" "likely benign" "" "0000311840" "0" "30" "11" "2189904" "2189904" "subst" "0.00163011" "02325" "TH_000025" "g.2189904G>A" "" "" "" "TH(NM_199292.3):c.406-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2168674G>A" "" "likely benign" "" "0000311841" "0" "30" "11" "2189413" "2189413" "subst" "1.62709E-5" "02325" "TH_000023" "g.2189413T>C" "" "" "" "TH(NM_199292.3):c.581-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2168183T>C" "" "likely benign" "" "0000311842" "0" "30" "11" "2189308" "2189308" "subst" "0.000162751" "02325" "TH_000022" "g.2189308G>A" "" "" "" "TH(NM_199292.3):c.669+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2168078G>A" "" "likely benign" "" "0000311843" "0" "50" "11" "2189124" "2189124" "subst" "0" "02325" "TH_000020" "g.2189124T>G" "" "" "" "TH(NM_199292.3):c.709A>C (p.I237L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2167894T>G" "" "VUS" "" "0000311844" "0" "30" "11" "2188676" "2188676" "subst" "0.005561" "02325" "TH_000018" "g.2188676C>T" "" "" "" "TH(NM_199292.2):c.777G>A (p.E259=), TH(NM_199292.3):c.777G>A (p.E259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2167446C>T" "" "likely benign" "" "0000311845" "0" "50" "11" "2192936" "2192936" "subst" "0.000471308" "02325" "TH_000031" "g.2192936C>A" "" "" "" "TH(NM_199292.3):c.81G>T (p.E27D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2171706C>A" "" "VUS" "" "0000313314" "0" "30" "11" "2186970" "2186970" "subst" "0.000102041" "02329" "TH_000014" "g.2186970G>A" "" "" "" "TH(NM_199292.3):c.1221C>T (p.F407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165740G>A" "" "likely benign" "" "0000313315" "0" "30" "11" "2186889" "2186889" "subst" "0.00972359" "02329" "TH_000011" "g.2186889G>A" "" "" "" "TH(NM_000360.3):c.1200+9C>T (p.(=)), TH(NM_199292.2):c.1293+9C>T, TH(NM_199292.3):c.1293+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165659G>A" "" "likely benign" "" "0000313316" "0" "10" "11" "2190951" "2190951" "subst" "0.42844" "02329" "TH_000027" "g.2190951C>T" "" "" "" "TH(NM_199292.2):c.334G>A (p.V112M), TH(NM_199292.3):c.334G>A (p.V112M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2169721C>T" "" "benign" "" "0000313317" "0" "30" "11" "2190925" "2190925" "subst" "0.00955318" "02329" "TH_000026" "g.2190925C>T" "" "" "" "TH(NM_199292.2):c.360G>A (p.R120=), TH(NM_199292.3):c.360G>A (p.R120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2169695C>T" "" "likely benign" "" "0000313318" "0" "30" "11" "2189843" "2189843" "subst" "6.71569E-5" "02329" "TH_000024" "g.2189843C>T" "" "" "" "TH(NM_199292.3):c.458G>A (p.R153Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2168613C>T" "" "likely benign" "" "0000313319" "0" "10" "11" "2188238" "2188238" "subst" "0.229048" "02329" "TH_000017" "g.2188238C>T" "" "" "" "TH(NM_199292.2):c.813G>A (p.K271=), TH(NM_199292.3):c.813G>A (p.K271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2167008C>T" "" "benign" "" "0000316581" "0" "30" "11" "2191997" "2191997" "subst" "0.000273694" "01943" "TH_000030" "g.2191997C>T" "" "" "" "TH(NM_199292.2):c.106G>A (p.A36T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2170767C>T" "" "likely benign" "" "0000316582" "0" "50" "11" "2186928" "2186928" "subst" "0.000240604" "01943" "TH_000012" "g.2186928G>C" "" "" "" "TH(NM_000360.3):c.1170C>G (p.(=)), TH(NM_199292.2):c.1263C>G (p.A421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165698G>C" "" "VUS" "" "0000316583" "0" "30" "11" "2186889" "2186889" "subst" "0.00972359" "01943" "TH_000011" "g.2186889G>A" "" "" "" "TH(NM_000360.3):c.1200+9C>T (p.(=)), TH(NM_199292.2):c.1293+9C>T, TH(NM_199292.3):c.1293+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165659G>A" "" "likely benign" "" "0000316584" "0" "50" "11" "2186478" "2186478" "subst" "8.95124E-5" "01943" "TH_000005" "g.2186478C>A" "" "" "" "TH(NM_199292.2):c.1411G>T (p.A471S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165248C>A" "" "VUS" "" "0000316585" "0" "10" "11" "2193001" "2193001" "subst" "0.00426569" "01943" "TH_000032" "g.2193001C>T" "" "" "" "TH(NM_199292.2):c.16G>A (p.A6T), TH(NM_199292.3):c.16G>A (p.A6T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2171771C>T" "" "benign" "" "0000316586" "0" "30" "11" "2190961" "2190961" "subst" "0" "01943" "TH_000028" "g.2190961C>G" "" "" "" "TH(NM_199292.2):c.324G>C (p.E108D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2169731C>G" "" "likely benign" "" "0000316587" "0" "10" "11" "2190951" "2190951" "subst" "0.42844" "01943" "TH_000027" "g.2190951C>T" "" "" "" "TH(NM_199292.2):c.334G>A (p.V112M), TH(NM_199292.3):c.334G>A (p.V112M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2169721C>T" "" "benign" "" "0000316588" "0" "30" "11" "2190925" "2190925" "subst" "0.00955318" "01943" "TH_000026" "g.2190925C>T" "" "" "" "TH(NM_199292.2):c.360G>A (p.R120=), TH(NM_199292.3):c.360G>A (p.R120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2169695C>T" "" "likely benign" "" "0000316589" "0" "30" "11" "2189185" "2189185" "subst" "0" "01943" "TH_000021" "g.2189185G>C" "" "" "" "TH(NM_199292.2):c.670-22C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2167955G>C" "" "likely benign" "" "0000316590" "0" "30" "11" "2189081" "2189081" "subst" "0.000856429" "01943" "TH_000019" "g.2189081G>T" "" "" "" "TH(NM_199292.2):c.737+15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2167851G>T" "" "likely benign" "" "0000316591" "0" "30" "11" "2188676" "2188676" "subst" "0.005561" "01943" "TH_000018" "g.2188676C>T" "" "" "" "TH(NM_199292.2):c.777G>A (p.E259=), TH(NM_199292.3):c.777G>A (p.E259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2167446C>T" "" "likely benign" "" "0000316592" "0" "10" "11" "2188238" "2188238" "subst" "0.229048" "01943" "TH_000017" "g.2188238C>T" "" "" "" "TH(NM_199292.2):c.813G>A (p.K271=), TH(NM_199292.3):c.813G>A (p.K271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2167008C>T" "" "benign" "" "0000321921" "0" "50" "11" "2182107" "2182107" "subst" "0" "01804" "INS_000005" "g.2182107C>A" "" "" "" "INS(NM_000207.2):c.95G>T (p.(Gly32Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2160877C>A" "" "VUS" "" "0000321922" "0" "30" "11" "2182139" "2182139" "subst" "0.0013956" "01804" "INS_000006" "g.2182139T>C" "" "" "" "INS(NM_000207.2):c.63A>G (p.(Pro21=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2160909T>C" "" "likely benign" "" "0000321923" "0" "30" "11" "2182166" "2182166" "subst" "0.00374911" "01804" "INS_000007" "g.2182166C>T" "" "" "" "INS(NM_000207.2):c.36G>A (p.(Ala12=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2160936C>T" "" "likely benign" "" "0000321927" "0" "30" "11" "2186518" "2186518" "subst" "0.00317916" "01804" "TH_000007" "g.2186518C>T" "" "" "" "TH(NM_000360.3):c.1278G>A (p.(Thr426=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165288C>T" "" "likely benign" "" "0000321930" "0" "30" "11" "2186605" "2186605" "subst" "1.66585E-5" "01804" "TH_000010" "g.2186605G>A" "" "" "" "TH(NM_000360.3):c.1201-10C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165375G>A" "" "likely benign" "" "0000321931" "0" "30" "11" "2186889" "2186889" "subst" "0.00972359" "01804" "TH_000011" "g.2186889G>A" "" "" "" "TH(NM_000360.3):c.1200+9C>T (p.(=)), TH(NM_199292.2):c.1293+9C>T, TH(NM_199292.3):c.1293+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2165659G>A" "" "likely benign" "" "0000321934" "0" "50" "11" "2187243" "2187243" "subst" "0" "01804" "TH_000015" "g.2187243T>G" "" "" "" "TH(NM_000360.3):c.1093A>C (p.(Lys365Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2166013T>G" "" "VUS" "" "0000339671" "0" "10" "11" "2185574" "2185574" "subst" "0" "02327" "TH_000033" "g.2185574C>T" "" "" "" "TH(NM_000360.3):c.1383G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2164344C>T" "" "benign" "" "0000344694" "0" "70" "11" "2189105" "2189105" "subst" "0" "02327" "TH_000034" "g.2189105T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2167875T>G" "" "likely pathogenic" "" "0000347017" "0" "90" "11" "2189126" "2189126" "subst" "1.25E-5" "02327" "TH_000035" "g.2189126A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2167896A>G" "" "pathogenic" "" "0000543455" "0" "90" "11" "2182104" "2182104" "subst" "0" "01804" "IGF2_000043" "g.2182104G>C" "" "" "" "INS(NM_000207.2):c.98C>G (p.(Ser33*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2160874G>C" "" "pathogenic" "" "0000543456" "0" "30" "11" "2182135" "2182135" "subst" "0.000399272" "01804" "IGF2_000044" "g.2182135C>T" "" "" "" "INS(NM_000207.2):c.67G>A (p.(Ala23Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2160905C>T" "" "likely benign" "" "0000543457" "0" "70" "11" "2182185" "2182185" "subst" "9.49378E-5" "01804" "IGF2_000045" "g.2182185C>T" "" "" "" "INS(NM_000207.2):c.17G>A (p.(Arg6His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2160955C>T" "" "likely pathogenic" "" "0000543458" "0" "30" "11" "2182196" "2182196" "subst" "8.2661E-6" "01804" "IGF2_000046" "g.2182196G>A" "" "" "" "INS(NM_000207.2):c.6C>T (p.(Ala2=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2160966G>A" "" "likely benign" "" "0000543462" "0" "50" "11" "2185517" "2185517" "del" "0" "01943" "IGF2_000050" "g.2185517del" "" "" "" "TH(NM_199292.2):c.1535delG (p.G512Vfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2164287del" "" "VUS" "" "0000543463" "0" "50" "11" "2185534" "2185534" "subst" "0.000208672" "01804" "TH_000003" "g.2185534C>T" "" "" "" "TH(NM_000360.4):c.1423G>A (p.(Val475Met)), TH(NM_199292.3):c.1516G>A (p.V506M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2164304C>T" "" "VUS" "" "0000543464" "0" "30" "11" "2185559" "2185559" "subst" "0.000424957" "01943" "IGF2_000051" "g.2185559G>A" "" "" "" "TH(NM_199292.2):c.1491C>T (p.I497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2164329G>A" "" "likely benign" "" "0000543466" "0" "70" "11" "2185575" "2185575" "subst" "0" "02327" "IGF2_000052" "g.2185575G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2164345G>A" "" "likely pathogenic" "" "0000543467" "0" "50" "11" "2186459" "2186459" "subst" "0.00018314" "01943" "IGF2_000053" "g.2186459C>G" "" "" "" "TH(NM_000360.3):c.1334+3G>C (p.?), TH(NM_199292.2):c.1427+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2165229C>G" "" "VUS" "" "0000543468" "0" "50" "11" "2186459" "2186459" "subst" "0.00018314" "01804" "IGF2_000053" "g.2186459C>G" "" "" "" "TH(NM_000360.3):c.1334+3G>C (p.?), TH(NM_199292.2):c.1427+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2165229C>G" "" "VUS" "" "0000543469" "0" "50" "11" "2186499" "2186499" "subst" "2.03416E-5" "02325" "IGF2_000054" "g.2186499C>T" "" "" "" "TH(NM_199292.3):c.1390G>A (p.V464M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2165269C>T" "" "VUS" "" "0000543470" "0" "50" "11" "2186500" "2186500" "subst" "0" "02327" "IGF2_000055" "g.2186500G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2165270G>C" "" "VUS" "" "0000543472" "0" "30" "11" "2186541" "2186541" "subst" "0.000452555" "01804" "TH_000008" "g.2186541C>T" "" "" "" "TH(NM_000360.3):c.1255G>A (p.(Val419Met)), TH(NM_199292.3):c.1348G>A (p.V450M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2165311C>T" "" "likely benign" "" "0000543473" "0" "30" "11" "2186563" "2186563" "subst" "4.08868E-6" "01804" "IGF2_000057" "g.2186563G>A" "" "" "" "TH(NM_000360.3):c.1233C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2165333G>A" "" "likely benign" "" "0000543474" "0" "30" "11" "2186998" "2186998" "subst" "9.96041E-5" "01943" "IGF2_000058" "g.2186998G>C" "" "" "" "TH(NM_199292.2):c.1198-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2165768G>C" "" "likely benign" "" "0000543475" "0" "30" "11" "2187005" "2187005" "subst" "0.000188773" "01804" "IGF2_000059" "g.2187005C>G" "" "" "" "TH(NM_000360.3):c.1105-12G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2165775C>G" "" "likely benign" "" "0000543476" "0" "10" "11" "2187071" "2187071" "subst" "0" "02327" "IGF2_000060" "g.2187071T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2165841T>C" "" "benign" "" "0000543477" "0" "50" "11" "2187234" "2187234" "subst" "0" "01804" "IGF2_000061" "g.2187234T>A" "" "" "" "TH(NM_000360.3):c.1102A>T (p.(Thr368Ser)), TH(NM_199292.2):c.1195A>T (p.T399S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2166004T>A" "" "VUS" "" "0000543478" "0" "50" "11" "2187234" "2187234" "subst" "0" "01943" "IGF2_000061" "g.2187234T>A" "" "" "" "TH(NM_000360.3):c.1102A>T (p.(Thr368Ser)), TH(NM_199292.2):c.1195A>T (p.T399S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2166004T>A" "" "VUS" "" "0000543479" "0" "50" "11" "2187260" "2187260" "subst" "0" "01943" "IGF2_000062" "g.2187260G>A" "" "" "" "TH(NM_199292.2):c.1169C>T (p.S390L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2166030G>A" "" "VUS" "" "0000543480" "0" "10" "11" "2187855" "2187855" "subst" "0.278481" "01943" "TH_000037" "g.2187855G>C" "" "" "" "TH(NM_199292.2):c.1070+8C>G, TH(NM_199292.3):c.1070+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2166625G>C" "" "benign" "" "0000543481" "0" "10" "11" "2187855" "2187855" "subst" "0.278481" "02327" "TH_000037" "g.2187855G>C" "" "" "" "TH(NM_199292.2):c.1070+8C>G, TH(NM_199292.3):c.1070+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2166625G>C" "" "benign" "" "0000543482" "0" "10" "11" "2187855" "2187855" "subst" "0.278481" "02329" "TH_000037" "g.2187855G>C" "" "" "" "TH(NM_199292.2):c.1070+8C>G, TH(NM_199292.3):c.1070+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2166625G>C" "" "benign" "" "0000543483" "0" "10" "11" "2188238" "2188238" "subst" "0.229048" "02327" "TH_000017" "g.2188238C>T" "" "" "" "TH(NM_199292.2):c.813G>A (p.K271=), TH(NM_199292.3):c.813G>A (p.K271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2167008C>T" "" "benign" "" "0000543484" "0" "30" "11" "2188265" "2188265" "subst" "0" "01943" "TH_000038" "g.2188265G>A" "" "" "" "TH(NM_199292.2):c.789-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2167035G>A" "" "likely benign" "" "0000543485" "0" "50" "11" "2189135" "2189135" "subst" "0.000108243" "01943" "TH_000036" "g.2189135C>T" "" "" "" "TH(NM_199292.2):c.698G>A (p.R233H), TH(NM_199292.3):c.698G>A (p.R233H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2167905C>T" "" "VUS" "" "0000543486" "0" "90" "11" "2189135" "2189135" "subst" "0.000108243" "02325" "TH_000036" "g.2189135C>T" "" "" "" "TH(NM_199292.2):c.698G>A (p.R233H), TH(NM_199292.3):c.698G>A (p.R233H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2167905C>T" "" "pathogenic" "" "0000543487" "0" "70" "11" "2189135" "2189135" "subst" "0.000108243" "02329" "TH_000036" "g.2189135C>T" "" "" "" "TH(NM_199292.2):c.698G>A (p.R233H), TH(NM_199292.3):c.698G>A (p.R233H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2167905C>T" "" "likely pathogenic" "" "0000543488" "0" "30" "11" "2189307" "2189315" "del" "5.28954E-5" "01943" "TH_000039" "g.2189307_2189315del" "" "" "" "TH(NM_199292.2):c.669+6_669+14delTGGTGCGCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2168077_2168085del" "" "likely benign" "" "0000543489" "0" "30" "11" "2189321" "2189321" "subst" "2.84713E-5" "02325" "TH_000040" "g.2189321C>T" "" "" "" "TH(NM_199292.3):c.669G>A (p.P223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2168091C>T" "" "likely benign" "" "0000543491" "0" "30" "11" "2189718" "2189718" "subst" "0.00957289" "02325" "TH_000041" "g.2189718C>T" "" "" "" "TH(NM_199292.3):c.580+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2168488C>T" "" "likely benign" "" "0000543492" "0" "50" "11" "2189802" "2189802" "subst" "0.000104836" "01943" "TH_000042" "g.2189802C>T" "" "" "" "TH(NM_199292.2):c.499G>A (p.V167M), TH(NM_199292.3):c.499G>A (p.V167M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2168572C>T" "" "VUS" "" "0000543493" "0" "50" "11" "2189802" "2189802" "subst" "0.000104836" "02325" "TH_000042" "g.2189802C>T" "" "" "" "TH(NM_199292.2):c.499G>A (p.V167M), TH(NM_199292.3):c.499G>A (p.V167M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2168572C>T" "" "VUS" "" "0000543494" "0" "50" "11" "2189817" "2189817" "subst" "0.000176185" "01943" "TH_000043" "g.2189817A>C" "" "" "" "TH(NM_199292.2):c.484T>G (p.F162V), TH(NM_199292.3):c.484T>G (p.F162V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2168587A>C" "" "VUS" "" "0000543495" "0" "90" "11" "2190994" "2190994" "del" "0" "02327" "TH_000044" "g.2190994del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2169764del" "" "pathogenic" "" "0000543496" "0" "50" "11" "2191083" "2191083" "subst" "4.70463E-5" "02327" "TH_000045" "g.2191083G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2169853G>A" "" "VUS" "" "0000543497" "0" "30" "11" "2191088" "2191088" "subst" "4.7184E-5" "01943" "TH_000046" "g.2191088A>G" "" "" "" "TH(NM_199292.2):c.197T>C (p.I66T), TH(NM_199292.3):c.197T>C (p.I66T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2169858A>G" "" "likely benign" "" "0000543498" "0" "30" "11" "2191088" "2191088" "subst" "4.7184E-5" "02329" "TH_000046" "g.2191088A>G" "" "" "" "TH(NM_199292.2):c.197T>C (p.I66T), TH(NM_199292.3):c.197T>C (p.I66T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2169858A>G" "" "likely benign" "" "0000543499" "0" "30" "11" "2192950" "2192950" "subst" "0.000233519" "01943" "TH_000047" "g.2192950C>T" "" "" "" "TH(NM_000360.4):c.67G>A (p.(Ala23Thr)), TH(NM_199292.2):c.67G>A (p.A23T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2171720C>T" "" "likely benign" "" "0000543500" "0" "50" "11" "2192974" "2192974" "subst" "9.85254E-5" "01943" "TH_000048" "g.2192974G>A" "" "" "" "TH(NM_199292.2):c.43C>T (p.R15C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2171744G>A" "" "VUS" "" "0000543501" "0" "30" "11" "2193005" "2193005" "subst" "0.000132689" "01943" "TH_000049" "g.2193005G>A" "" "" "" "TH(NM_199292.2):c.12C>T (p.P4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2171775G>A" "" "likely benign" "" "0000613242" "0" "50" "11" "2185555" "2185555" "subst" "0.000122431" "02325" "IGF2_000065" "g.2185555C>T" "" "" "" "TH(NM_199292.3):c.1495G>A (p.V499M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2164325C>T" "" "VUS" "" "0000613243" "0" "30" "11" "2187267" "2187267" "subst" "0" "01804" "IGF2_000066" "g.2187267C>T" "" "" "" "TH(NM_000360.3):c.1069G>A (p.(Gly357Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2166037C>T" "" "likely benign" "" "0000613244" "0" "10" "11" "2189185" "2189185" "subst" "0.72111" "02327" "TH_000050" "g.2189185G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2167955G>A" "" "benign" "" "0000613245" "0" "50" "11" "2189814" "2189814" "subst" "4.61843E-5" "01943" "TH_000051" "g.2189814C>T" "" "" "" "TH(NM_000360.4):c.394G>A (p.(Val132Met)), TH(NM_199292.2):c.487G>A (p.V163M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2168584C>T" "" "VUS" "" "0000613246" "0" "50" "11" "2189817" "2189817" "subst" "0.000176185" "02325" "TH_000043" "g.2189817A>C" "" "" "" "TH(NM_199292.2):c.484T>G (p.F162V), TH(NM_199292.3):c.484T>G (p.F162V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2168587A>C" "" "VUS" "" "0000613247" "0" "10" "11" "2190951" "2190951" "subst" "0.42844" "02327" "TH_000027" "g.2190951C>T" "" "" "" "TH(NM_199292.2):c.334G>A (p.V112M), TH(NM_199292.3):c.334G>A (p.V112M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2169721C>T" "" "benign" "" "0000622613" "0" "30" "11" "2191969" "2191969" "subst" "0.000149948" "01943" "TH_000052" "g.2191969G>A" "" "" "" "TH(NM_199292.2):c.134C>T (p.P45L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2170739G>A" "" "likely benign" "" "0000648199" "1" "50" "11" "2185569" "2185569" "subst" "0" "03575" "TH_000053" "g.2185569G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; {DB:CLININrs45471299}" "Germline" "" "rs45471299" "0" "" "" "g.2164339G>A" "" "VUS" "" "0000648200" "1" "90" "11" "2189135" "2189135" "subst" "0.000108243" "03575" "TH_000036" "g.2189135C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs80338892}" "Germline" "" "rs80338892" "0" "" "" "g.2167905C>T" "" "pathogenic" "" "0000656755" "0" "30" "11" "2188715" "2188715" "subst" "0" "01943" "TH_000054" "g.2188715G>A" "" "" "" "TH(NM_199292.2):c.738C>T (p.H246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2167485G>A" "" "likely benign" "" "0000656756" "0" "30" "11" "2189146" "2189146" "subst" "0.000211488" "01943" "TH_000055" "g.2189146C>A" "" "" "" "TH(NM_199292.2):c.687G>T (p.V229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2167916C>A" "" "likely benign" "" "0000656757" "0" "30" "11" "2190888" "2190888" "subst" "3.69031E-5" "01943" "TH_000056" "g.2190888C>A" "" "" "" "TH(NM_199292.2):c.397G>T (p.V133L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2169658C>A" "" "likely benign" "" "0000656758" "0" "50" "11" "2193012" "2193012" "subst" "0.000345126" "01943" "TH_000057" "g.2193012G>A" "" "" "" "TH(NM_199292.2):c.5C>T (p.P2L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2171782G>A" "" "VUS" "" "0000679139" "0" "30" "11" "2185527" "2185527" "subst" "0" "01943" "IGF2_000067" "g.2185527C>T" "" "" "" "TH(NM_199292.2):c.1523G>A (p.R508H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679140" "0" "90" "11" "2186957" "2186957" "subst" "4.07877E-6" "01943" "TH_000013" "g.2186957G>T" "" "" "" "TH(NM_199292.2):c.1234C>A (p.Q412K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679141" "0" "50" "11" "2189365" "2189365" "subst" "8.13028E-6" "01943" "TH_000058" "g.2189365G>A" "" "" "" "TH(NM_199292.2):c.625C>T (p.H209Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679142" "0" "50" "11" "2190899" "2190899" "subst" "2.0496E-5" "02325" "TH_000059" "g.2190899C>T" "" "" "" "TH(NM_199292.3):c.386G>A (p.R129Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679143" "0" "30" "11" "2190928" "2190928" "subst" "0.00044213" "01943" "TH_000060" "g.2190928C>T" "" "" "" "TH(NM_199292.2):c.357G>A (p.P119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683675" "1" "90" "11" "2186906" "2186906" "subst" "8.1638E-6" "00006" "TH_000062" "g.2186906C>T" "" "{PMID:Mahler 2019:31056085}" "" "c.1273C>T (Glu425Lys)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000683687" "2" "90" "11" "2187742" "2187742" "subst" "0" "00006" "TH_000061" "g.2187742G>T" "" "{PMID:Mahler 2019:31056085}" "" "1096G>T (Leu366Met)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000723364" "0" "50" "11" "2185588" "2185588" "subst" "0" "02325" "IGF2_000069" "g.2185588C>T" "" "" "" "TH(NM_199292.3):c.1462G>A (p.V488M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723365" "0" "50" "11" "2187275" "2187275" "subst" "0" "02329" "TH_000016" "g.2187275G>A" "" "" "" "TH(NM_199292.3):c.1154C>T (p.A385V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723366" "0" "50" "11" "2187718" "2187718" "subst" "0" "02325" "TH_000063" "g.2187718A>C" "" "" "" "TH(NM_199292.3):c.1132T>G (p.F378V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723367" "0" "50" "11" "2188714" "2188714" "subst" "6.90781E-5" "01943" "TH_000064" "g.2188714C>T" "" "" "" "TH(NM_199292.2):c.739G>A (p.G247S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763141" "3" "70" "11" "2188171" "2188171" "subst" "1.85903E-5" "00006" "TH_000065" "g.2188171C>G" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.2166941C>G" "" "likely pathogenic" "ACMG" "0000783229" "1" "70" "11" "2187284" "2187284" "subst" "0" "01164" "TH_000066" "g.2187284A>G" "" "PMID: 22264700" "" "p.(Ile351Thr)" "ACMG: PM3, PM2_SUP, PP3, PP4" "Germline" "?" "" "" "" "" "" "VCV000553397.1" "VUS (!)" "ACMG" "0000783230" "2" "70" "11" "2187275" "2187275" "subst" "0" "01164" "TH_000016" "g.2187275G>A" "" "PMID: 22583432" "" "c.1061C>T p.(Ala354Val)" "ACMG: PM3, PM2_SUP, PP3, PP4)" "Germline" "?" "" "" "" "" "" "" "VUS (!)" "ACMG" "0000787418" "3" "50" "11" "2188132" "2188132" "subst" "4.41649E-6" "00006" "TH_000068" "g.2188132A>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.2166902A>C" "" "VUS" "" "0000787488" "1" "50" "11" "2189898" "2189898" "subst" "8.46246E-6" "00000" "TH_000069" "g.2189898T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs747848885" "0" "" "" "g.2168668T>C" "" "VUS" "" "0000787489" "2" "50" "11" "2185558" "2185558" "subst" "1.02733E-5" "00000" "TH_000067" "g.2185558C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs200751977" "0" "" "" "g.2164328C>T" "" "VUS" "" "0000805062" "0" "90" "11" "2186951" "2186951" "subst" "1.63163E-5" "02327" "IGF2_000071" "g.2186951C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805063" "0" "90" "11" "2187233" "2187233" "subst" "0" "02327" "IGF2_000072" "g.2187233G>A" "" "" "" "TH(NM_000360.4):c.1103C>T (p.(Thr368Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805064" "0" "50" "11" "2189814" "2189814" "subst" "4.19858E-6" "01943" "TH_000070" "g.2189814C>A" "" "" "" "TH(NM_199292.2):c.487G>T (p.V163L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852854" "0" "30" "11" "2185589" "2185589" "subst" "0.000280076" "01943" "TH_000004" "g.2185589G>A" "" "" "" "TH(NM_199292.2):c.1461C>T (p.S487=), TH(NM_199292.3):c.1461C>T (p.S487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862473" "0" "30" "11" "2181205" "2181205" "subst" "2.47687E-5" "01804" "IGF2_000075" "g.2181205C>T" "" "" "" "INS(NM_000207.2):c.210G>A (p.(Gly70=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862474" "0" "30" "11" "2181237" "2181237" "subst" "0.00238929" "01804" "IGF2_000076" "g.2181237C>T" "" "" "" "INS(NM_000207.2):c.188-10G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862475" "0" "10" "11" "2181243" "2181243" "subst" "0.00124592" "01804" "IGF2_000077" "g.2181243G>A" "" "" "" "INS(NM_000207.2):c.188-16C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862476" "0" "50" "11" "2182036" "2182036" "subst" "1.23466E-5" "01804" "IGF2_000078" "g.2182036G>A" "" "" "" "INS(NM_000207.2):c.166C>T (p.(Arg56Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862477" "0" "70" "11" "2182076" "2182076" "del" "0" "01804" "IGF2_000079" "g.2182076del" "" "" "" "INS(NM_000207.2):c.126del (p.(Cys43Alafs*88))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862478" "0" "70" "11" "2182079" "2182079" "del" "0" "01804" "IGF2_000080" "g.2182079del" "" "" "" "INS(NM_000207.2):c.123del (p.(Val42Cysfs*89))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862479" "0" "50" "11" "2189158" "2189158" "subst" "0.000256842" "01943" "TH_000071" "g.2189158G>T" "" "" "" "TH(NM_199292.2):c.675C>A (p.F225L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000870257" "0" "50" "11" "2187917" "2187917" "subst" "0" "01741" "TH_000072" "g.2187917A>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2166687A>C" "" "VUS" "" "0000870707" "3" "90" "11" "2186957" "2186957" "subst" "4.07877E-6" "00006" "TH_000013" "g.2186957G>T" "" "{PMID:Ludecke 1995:7814018}, {PMID:Knappskog 1995:8528210}" "" "Gln381Lys" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870799" "3" "90" "11" "2189126" "2189126" "subst" "1.25E-5" "00006" "TH_000035" "g.2189126A>G" "" "{PMID:Ludecke 1996:8817341}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870800" "3" "90" "11" "2189135" "2189135" "subst" "0.000108243" "00006" "TH_000036" "g.2189135C>T" "" "{PMID:Van Den Heuvel 1998:9703425}" "" "g698a (Arg233His)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870801" "3" "90" "11" "2189135" "2189135" "subst" "0.000108243" "00006" "TH_000036" "g.2189135C>T" "" "{PMID:Van Den Heuvel 1998:9703425}" "" "g698a (Arg233His)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870802" "3" "90" "11" "2189135" "2189135" "subst" "0.000108243" "00006" "TH_000036" "g.2189135C>T" "" "{PMID:Van Den Heuvel 1998:9703425}" "" "g698a (Arg233His)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870803" "3" "90" "11" "2189135" "2189135" "subst" "0.000108243" "00006" "TH_000036" "g.2189135C>T" "" "{PMID:Brautigam 1998:9732974}, {PMID:Wevers 1999:10407773}" "" "g698a (Arg233His)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870804" "3" "90" "11" "2189135" "2189135" "subst" "0.000108243" "00006" "TH_000036" "g.2189135C>T" "" "{PMID:Brautigam 1998:9732974}, {PMID:Wevers 1999:10407773}" "" "g698a (Arg233His)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870805" "3" "90" "11" "2189135" "2189135" "subst" "0.000108243" "00006" "TH_000036" "g.2189135C>T" "" "{PMID:Brautigam 1998:9732974}, {PMID:Wevers 1999:10407773}" "" "g698a (Arg233His)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870806" "1" "90" "11" "2189135" "2189135" "subst" "0.000108243" "00006" "TH_000036" "g.2189135C>T" "" "{PMID:Brautigam 1998:9732974}, {PMID:Wevers 1999:10407773}" "" "g698a (Arg233His)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870807" "2" "90" "11" "2190994" "2190994" "del" "0" "00006" "TH_000044" "g.2190994del" "" "{PMID:Brautigam 1998:9732974}, {PMID:Wevers 1999:10407773}" "" "291delC" "" "Germline" "" "" "0" "" "" "g.2169764del" "" "pathogenic (recessive)" "" "0000870808" "21" "90" "11" "2187923" "2187923" "subst" "0" "00006" "TH_000073" "g.2187923C>T" "" "{PMID:Swaans 2000:11246459}" "" "1010G>A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870810" "11" "90" "11" "2185569" "2185569" "subst" "0" "00006" "TH_000053" "g.2185569G>A" "" "{PMID:Swaans 2000:11246459}" "" "1481C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870811" "1" "90" "11" "2188225" "2188225" "subst" "1.49507E-5" "00006" "TH_000074" "g.2188225T>G" "" "{PMID:Swaans 2000:11246459}" "" "826A>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870813" "2" "90" "11" "2187992" "2187992" "subst" "0" "00006" "TH_000075" "g.2187992G>A" "" "{PMID:Swaans 2000:11246459}" "" "941C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870814" "21" "90" "11" "2189135" "2189135" "subst" "0.000108243" "00006" "TH_000036" "g.2189135C>T" "" "{PMID:Janssen 2000:11281275}" "" "698G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870817" "11" "90" "11" "2187017" "2187017" "subst" "0" "00006" "TH_000076" "g.2187017A>T" "" "{PMID:Janssen 2000:11281275}" "" "IVS11-24t>a" "variant affects branch point" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870833" "3" "90" "11" "2193085" "2193085" "subst" "0" "00006" "TH_000079" "g.2193085A>T" "" "{PMID:Verbeek 2007:17696123}" "" "c.-69T>A" "variant in conserved consensus sequence cAMP response element predicted to reduce mRNA expression" "Germline" "" "" "0" "" "" "g.2171855A>T" "" "pathogenic (recessive)" "" "0000870834" "1" "90" "11" "2187270" "2187270" "subst" "0" "00006" "TH_000077" "g.2187270G>T" "" "{PMID:Verbeek 2007:17696123}" "" "" "" "Germline" "" "" "0" "" "" "g.2166040G>T" "" "pathogenic (recessive)" "" "0000870835" "3" "90" "11" "2193086" "2193086" "subst" "0" "00006" "TH_000080" "g.2193086C>T" "" "{PMID:Verbeek 2007:17696123}" "" "c.-70G>A" "variant in conserved consensus sequence cAMP response element predicted to reduce mRNA expression" "Germline" "" "" "0" "" "" "g.2171856C>T" "" "pathogenic (recessive)" "" "0000870836" "3" "90" "11" "2193086" "2193086" "subst" "0" "00006" "TH_000080" "g.2193086C>T" "" "{PMID:Verbeek 2007:17696123}" "" "c.-70G>A" "variant in conserved consensus sequence cAMP response element predicted to reduce mRNA expression" "Germline" "" "" "0" "" "" "g.2171856C>T" "" "pathogenic (recessive)" "" "0000870837" "1" "90" "11" "2185575" "2185575" "subst" "0" "00006" "IGF2_000052" "g.2185575G>A" "" "{PMID:Verbeek 2007:17696123}" "" "" "" "Germline" "" "" "0" "" "" "g.2164345G>A" "" "pathogenic (recessive)" "" "0000870838" "2" "90" "11" "2193087" "2193087" "subst" "0" "00006" "TH_000081" "g.2193087G>A" "" "{PMID:Verbeek 2007:17696123}" "" "c.-71C>T" "variant in conserved consensus sequence cAMP response element predicted to reduce mRNA expression" "Germline" "" "" "0" "" "" "g.2171857G>A" "" "pathogenic (recessive)" "" "0000870839" "2" "90" "11" "2193086" "2193086" "subst" "0" "00006" "TH_000080" "g.2193086C>T" "" "{PMID:Verbeek 2007:17696123}" "" "c.-70G>A" "variant in conserved consensus sequence cAMP response element predicted to reduce mRNA expression" "Germline" "" "" "0" "" "" "g.2171856C>T" "" "pathogenic (recessive)" "" "0000870942" "3" "90" "11" "2187774" "2187774" "subst" "0" "00006" "TH_000078" "g.2187774C>A" "" "{PMID:Brautigam 1999:10585338}" "ItaI-" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000870943" "3" "10" "11" "2190951" "2190951" "subst" "0.42844" "00006" "TH_000027" "g.2190951C>T" "" "{PMID:Brautigam 1999:10585338}" "" "V112M" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000870944" "3" "90" "11" "2189135" "2189135" "subst" "0.000108243" "00006" "TH_000036" "g.2189135C>T" "" "{PMID:Najmabadi 2011:21937992}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000889758" "0" "30" "11" "2181169" "2181169" "subst" "0" "01804" "IGF2_000083" "g.2181169C>T" "" "" "" "INS(NM_000207.2):c.246G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889759" "0" "50" "11" "2181243" "2181243" "subst" "0" "01804" "IGF2_000084" "g.2181243G>T" "" "" "" "INS(NM_000207.2):c.188-16C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889760" "0" "90" "11" "2188229" "2188229" "subst" "0" "02325" "TH_000082" "g.2188229G>T" "" "" "" "TH(NM_199292.3):c.822C>A (p.Y274*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913551" "0" "50" "11" "2181179" "2181179" "subst" "0" "01804" "IGF2_000088" "g.2181179G>A" "" "" "" "INS(NM_000207.2):c.236C>T (p.(Pro79Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929840" "0" "70" "11" "2181258" "2181258" "subst" "0" "01804" "INS_000010" "g.2181258C>T" "" "" "" "INS(NM_000207.2):c.188-31G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000949641" "0" "10" "11" "2185556" "2185556" "subst" "0.00662589" "01804" "IGF2_000094" "g.2185556G>A" "" "" "" "TH(NM_000360.3):c.1401C>T (p.(Asp467=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000966299" "0" "10" "11" "2182210" "2182210" "subst" "0.00869396" "01804" "IGF2_000097" "g.2182210G>A" "" "" "" "INS-IGF2(NM_001042376.2):c.-9C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000966301" "0" "50" "11" "2185568" "2185568" "subst" "0" "01804" "IGF2_000098" "g.2185568C>A" "" "" "" "TH(NM_000360.3):c.1389G>T (p.(Thr463=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966302" "0" "50" "11" "2185580" "2185580" "subst" "4.96199E-5" "01804" "IGF2_000099" "g.2185580G>A" "" "" "" "TH(NM_000360.3):c.1377C>T (p.(Phe459=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966303" "0" "30" "11" "2186928" "2186928" "subst" "4.48584E-5" "01804" "IGF2_000100" "g.2186928G>A" "" "" "" "INS(NM_000207.2):c.-4548C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966304" "0" "30" "11" "2186998" "2186998" "subst" "8.30034E-6" "01804" "IGF2_000101" "g.2186998G>A" "" "" "" "INS(NM_000207.2):c.-4618C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966305" "0" "70" "11" "2187270" "2187270" "subst" "0" "02327" "TH_000077" "g.2187270G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000966306" "0" "90" "11" "2193087" "2193087" "subst" "0" "02327" "TH_000081" "g.2193087G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979513" "0" "50" "11" "2185608" "2185608" "subst" "0" "01804" "IGF2_000102" "g.2185608C>T" "" "" "" "TH(NM_000360.3):c.1349G>A (p.(Arg450His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979514" "0" "50" "11" "2185609" "2185609" "subst" "0" "01804" "IGF2_000103" "g.2185609G>A" "" "" "" "TH(NM_000360.4):c.1348C>T (p.(Arg450Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979515" "0" "30" "11" "2185633" "2185633" "subst" "5.35452E-6" "01804" "IGF2_000104" "g.2185633G>C" "" "" "" "INS(NM_000207.2):c.-3253C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979516" "0" "30" "11" "2186488" "2186488" "subst" "0" "01804" "IGF2_000105" "g.2186488G>A" "" "" "" "INS(NM_000207.2):c.-4108C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979517" "0" "30" "11" "2186928" "2186928" "subst" "0.000240604" "01804" "TH_000012" "g.2186928G>C" "" "" "" "TH(NM_000360.3):c.1170C>G (p.(=)), TH(NM_199292.2):c.1263C>G (p.A421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979518" "0" "90" "11" "2187233" "2187233" "subst" "0" "01804" "IGF2_000072" "g.2187233G>A" "" "" "" "TH(NM_000360.4):c.1103C>T (p.(Thr368Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979519" "0" "50" "11" "2189156" "2189156" "subst" "0" "01804" "TH_000083" "g.2189156G>A" "" "" "" "TH(NM_000360.4):c.584C>T (p.(Ser195Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979520" "0" "50" "11" "2190969" "2190969" "subst" "4.0992E-6" "01804" "TH_000084" "g.2190969C>T" "" "" "" "TH(NM_000360.4):c.223G>A (p.(Glu75Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979521" "0" "50" "11" "2192950" "2192950" "subst" "0.000233519" "01804" "TH_000047" "g.2192950C>T" "" "" "" "TH(NM_000360.4):c.67G>A (p.(Ala23Thr)), TH(NM_199292.2):c.67G>A (p.A23T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998951" "0" "90" "11" "2181150" "2181150" "subst" "0" "02329" "INS_000011" "g.2181150G>A" "" "" "" "INS(NM_001185098.2):c.265C>T (p.R89C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014780" "0" "30" "11" "2185574" "2185574" "subst" "0" "01804" "TH_000033" "g.2185574C>T" "" "" "" "TH(NM_000360.3):c.1383G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014781" "0" "50" "11" "2187001" "2187001" "subst" "0" "01804" "IGF2_000110" "g.2187001G>A" "" "" "" "INS(NM_000207.2):c.-4621C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025957" "0" "30" "11" "2182003" "2182003" "subst" "2.06349E-5" "01804" "IGF2_000113" "g.2182003C>T" "" "" "" "INS(NM_000207.2):c.187+12G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025958" "0" "90" "11" "2182108" "2182108" "subst" "0" "01804" "INS_000012" "g.2182108C>T" "" "" "" "INS(NM_000207.2):c.94G>A (p.(Gly32Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038398" "0" "50" "11" "2189814" "2189814" "subst" "4.61843E-5" "01804" "TH_000051" "g.2189814C>T" "" "" "" "TH(NM_000360.4):c.394G>A (p.(Val132Met)), TH(NM_199292.2):c.487G>A (p.V163M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038399" "0" "70" "11" "2192914" "2192914" "subst" "2.05809E-5" "01804" "TH_000085" "g.2192914C>T" "" "" "" "TH(NM_199292.3):c.102+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046305" "0" "70" "11" "2182082" "2182082" "subst" "0" "01804" "IGF2_000117" "g.2182082G>C" "" "" "" "INS(NM_000207.2):c.120C>G (p.(Tyr40Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001053767" "0" "50" "11" "2192973" "2192973" "subst" "0.000102602" "01804" "TH_000086" "g.2192973C>T" "" "" "" "TH(NM_000360.4):c.44G>A (p.(Arg15His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059245" "0" "90" "11" "2187725" "2187725" "subst" "4.80714E-6" "00006" "chr11_008624" "g.2187725G>C" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.2166495G>C" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TH ## Count = 355 "{{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}}" "0000084845" "00024080" "50" "772" "0" "772" "0" "c.772G>A" "r.(?)" "p.(Glu258Lys)" "7" "0000249153" "00024080" "10" "5046" "0" "5046" "0" "c.*3459T>C" "r.(=)" "p.(=)" "" "0000249153" "00025711" "10" "4953" "0" "4953" "0" "c.*3459T>C" "r.(=)" "p.(=)" "" "0000281549" "00024080" "10" "5990" "0" "5990" "0" "c.*4403A>C" "r.(=)" "p.(=)" "" "0000281549" "00025711" "10" "5897" "0" "5897" "0" "c.*4403A>C" "r.(=)" "p.(=)" "" "0000311833" "00024080" "50" "124" "0" "124" "0" "c.124A>C" "r.(?)" "p.(Thr42Pro)" "" "0000311833" "00025711" "50" "91" "-878" "91" "-878" "c.91-878A>C" "r.(=)" "p.(=)" "" "0000311834" "00024080" "30" "1348" "0" "1348" "0" "c.1348G>A" "r.(?)" "p.(Val450Met)" "" "0000311834" "00025711" "30" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Val419Met)" "" "0000311835" "00024080" "50" "1394" "0" "1394" "0" "c.1394C>G" "r.(?)" "p.(Ser465Cys)" "" "0000311835" "00025711" "50" "1301" "0" "1301" "0" "c.1301C>G" "r.(?)" "p.(Ser434Cys)" "" "0000311836" "00024080" "30" "1461" "0" "1461" "0" "c.1461C>T" "r.(?)" "p.(Ser487=)" "" "0000311836" "00025711" "30" "1368" "0" "1368" "0" "c.1368C>T" "r.(?)" "p.(Ser456=)" "" "0000311837" "00024080" "30" "1516" "0" "1516" "0" "c.1516G>A" "r.(?)" "p.(Val506Met)" "" "0000311837" "00025711" "30" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Val475Met)" "" "0000311838" "00024080" "30" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Ala6Thr)" "" "0000311838" "00025711" "30" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Ala6Thr)" "" "0000311839" "00024080" "30" "360" "0" "360" "0" "c.360G>A" "r.(?)" "p.(Arg120=)" "" "0000311839" "00025711" "30" "267" "0" "267" "0" "c.267G>A" "r.(?)" "p.(Arg89=)" "" "0000311840" "00024080" "30" "406" "-9" "406" "-9" "c.406-9C>T" "r.(=)" "p.(=)" "" "0000311840" "00025711" "30" "313" "-9" "313" "-9" "c.313-9C>T" "r.(=)" "p.(=)" "" "0000311841" "00024080" "30" "581" "-4" "581" "-4" "c.581-4A>G" "r.spl?" "p.?" "" "0000311841" "00025711" "30" "488" "-4" "488" "-4" "c.488-4A>G" "r.spl?" "p.?" "" "0000311842" "00024080" "30" "669" "13" "669" "13" "c.669+13C>T" "r.(=)" "p.(=)" "" "0000311842" "00025711" "30" "576" "13" "576" "13" "c.576+13C>T" "r.(=)" "p.(=)" "" "0000311843" "00024080" "50" "709" "0" "709" "0" "c.709A>C" "r.(?)" "p.(Ile237Leu)" "" "0000311843" "00025711" "50" "616" "0" "616" "0" "c.616A>C" "r.(?)" "p.(Ile206Leu)" "" "0000311844" "00024080" "30" "777" "0" "777" "0" "c.777G>A" "r.(?)" "p.(Glu259=)" "" "0000311844" "00025711" "30" "684" "0" "684" "0" "c.684G>A" "r.(?)" "p.(Glu228=)" "" "0000311845" "00024080" "50" "81" "0" "81" "0" "c.81G>T" "r.(?)" "p.(Glu27Asp)" "" "0000311845" "00025711" "50" "81" "0" "81" "0" "c.81G>T" "r.(?)" "p.(Glu27Asp)" "" "0000313314" "00024080" "30" "1221" "0" "1221" "0" "c.1221C>T" "r.(?)" "p.(Phe407=)" "" "0000313314" "00025711" "30" "1128" "0" "1128" "0" "c.1128C>T" "r.(?)" "p.(Phe376=)" "" "0000313315" "00024080" "30" "1293" "9" "1293" "9" "c.1293+9C>T" "r.(=)" "p.(=)" "" "0000313315" "00025711" "30" "1200" "9" "1200" "9" "c.1200+9C>T" "r.(=)" "p.(=)" "" "0000313316" "00024080" "10" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Val112Met)" "" "0000313316" "00025711" "10" "241" "0" "241" "0" "c.241G>A" "r.(?)" "p.(Val81Met)" "" "0000313317" "00024080" "30" "360" "0" "360" "0" "c.360G>A" "r.(?)" "p.(Arg120=)" "" "0000313317" "00025711" "30" "267" "0" "267" "0" "c.267G>A" "r.(?)" "p.(Arg89=)" "" "0000313318" "00024080" "30" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Arg153Gln)" "" "0000313318" "00025711" "30" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122Gln)" "" "0000313319" "00024080" "10" "813" "0" "813" "0" "c.813G>A" "r.(?)" "p.(Lys271=)" "" "0000313319" "00025711" "10" "720" "0" "720" "0" "c.720G>A" "r.(?)" "p.(Lys240=)" "" "0000316581" "00024080" "30" "106" "0" "106" "0" "c.106G>A" "r.(?)" "p.(Ala36Thr)" "" "0000316581" "00025711" "30" "91" "-896" "91" "-896" "c.91-896G>A" "r.(=)" "p.(=)" "" "0000316582" "00024080" "50" "1263" "0" "1263" "0" "c.1263C>G" "r.(?)" "p.(Ala421=)" "" "0000316582" "00025711" "50" "1170" "0" "1170" "0" "c.1170C>G" "r.(?)" "p.(Ala390=)" "" "0000316583" "00024080" "30" "1293" "9" "1293" "9" "c.1293+9C>T" "r.(=)" "p.(=)" "" "0000316583" "00025711" "30" "1200" "9" "1200" "9" "c.1200+9C>T" "r.(=)" "p.(=)" "" "0000316584" "00024080" "50" "1411" "0" "1411" "0" "c.1411G>T" "r.(?)" "p.(Ala471Ser)" "" "0000316584" "00025711" "50" "1318" "0" "1318" "0" "c.1318G>T" "r.(?)" "p.(Ala440Ser)" "" "0000316585" "00024080" "10" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Ala6Thr)" "" "0000316585" "00025711" "10" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Ala6Thr)" "" "0000316586" "00024080" "30" "324" "0" "324" "0" "c.324G>C" "r.(?)" "p.(Glu108Asp)" "" "0000316586" "00025711" "30" "231" "0" "231" "0" "c.231G>C" "r.(?)" "p.(Glu77Asp)" "" "0000316587" "00024080" "10" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Val112Met)" "" "0000316587" "00025711" "10" "241" "0" "241" "0" "c.241G>A" "r.(?)" "p.(Val81Met)" "" "0000316588" "00024080" "30" "360" "0" "360" "0" "c.360G>A" "r.(?)" "p.(Arg120=)" "" "0000316588" "00025711" "30" "267" "0" "267" "0" "c.267G>A" "r.(?)" "p.(Arg89=)" "" "0000316589" "00024080" "30" "670" "-22" "670" "-22" "c.670-22C>G" "r.(=)" "p.(=)" "" "0000316589" "00025711" "30" "577" "-22" "577" "-22" "c.577-22C>G" "r.(=)" "p.(=)" "" "0000316590" "00024080" "30" "737" "15" "737" "15" "c.737+15C>A" "r.(=)" "p.(=)" "" "0000316590" "00025711" "30" "644" "15" "644" "15" "c.644+15C>A" "r.(=)" "p.(=)" "" "0000316591" "00024080" "30" "777" "0" "777" "0" "c.777G>A" "r.(?)" "p.(Glu259=)" "" "0000316591" "00025711" "30" "684" "0" "684" "0" "c.684G>A" "r.(?)" "p.(Glu228=)" "" "0000316592" "00024080" "10" "813" "0" "813" "0" "c.813G>A" "r.(?)" "p.(Lys271=)" "" "0000316592" "00025711" "10" "720" "0" "720" "0" "c.720G>A" "r.(?)" "p.(Lys240=)" "" "0000321921" "00024080" "50" "4943" "0" "4943" "0" "c.*3356G>T" "r.(=)" "p.(=)" "" "0000321921" "00025711" "50" "4850" "0" "4850" "0" "c.*3356G>T" "r.(=)" "p.(=)" "" "0000321922" "00024080" "30" "4911" "0" "4911" "0" "c.*3324A>G" "r.(=)" "p.(=)" "" "0000321922" "00025711" "30" "4818" "0" "4818" "0" "c.*3324A>G" "r.(=)" "p.(=)" "" "0000321923" "00024080" "30" "4884" "0" "4884" "0" "c.*3297G>A" "r.(=)" "p.(=)" "" "0000321923" "00025711" "30" "4791" "0" "4791" "0" "c.*3297G>A" "r.(=)" "p.(=)" "" "0000321927" "00024080" "30" "1371" "0" "1371" "0" "c.1371G>A" "r.(?)" "p.(Thr457=)" "" "0000321927" "00025711" "30" "1278" "0" "1278" "0" "c.1278G>A" "r.(?)" "p.(Thr426=)" "" "0000321930" "00024080" "30" "1294" "-10" "1294" "-10" "c.1294-10C>T" "r.(=)" "p.(=)" "" "0000321930" "00025711" "30" "1201" "-10" "1201" "-10" "c.1201-10C>T" "r.(=)" "p.(=)" "" "0000321931" "00024080" "30" "1293" "9" "1293" "9" "c.1293+9C>T" "r.(=)" "p.(=)" "" "0000321931" "00025711" "30" "1200" "9" "1200" "9" "c.1200+9C>T" "r.(=)" "p.(=)" "" "0000321934" "00024080" "50" "1186" "0" "1186" "0" "c.1186A>C" "r.(?)" "p.(Lys396Gln)" "" "0000321934" "00025711" "50" "1093" "0" "1093" "0" "c.1093A>C" "r.(?)" "p.(Lys365Gln)" "" "0000339671" "00024080" "10" "1476" "0" "1476" "0" "c.1476G>A" "r.(?)" "p.(Pro492=)" "" "0000339671" "00025711" "10" "1383" "0" "1383" "0" "c.1383G>A" "r.(?)" "p.(Pro461=)" "" "0000344694" "00024080" "70" "728" "0" "728" "0" "c.728A>C" "r.(?)" "p.(Gln243Pro)" "" "0000344694" "00025711" "70" "635" "0" "635" "0" "c.635A>C" "r.(?)" "p.(Gln212Pro)" "" "0000347017" "00024080" "90" "707" "0" "707" "0" "c.707T>C" "r.(?)" "p.(Leu236Pro)" "" "0000347017" "00025711" "90" "614" "0" "614" "0" "c.614T>C" "r.(?)" "p.(Leu205Pro)" "" "0000543455" "00024080" "90" "4946" "0" "4946" "0" "c.*3359C>G" "r.(=)" "p.(=)" "" "0000543455" "00025711" "90" "4853" "0" "4853" "0" "c.*3359C>G" "r.(=)" "p.(=)" "" "0000543456" "00024080" "30" "4915" "0" "4915" "0" "c.*3328G>A" "r.(=)" "p.(=)" "" "0000543456" "00025711" "30" "4822" "0" "4822" "0" "c.*3328G>A" "r.(=)" "p.(=)" "" "0000543457" "00024080" "70" "4865" "0" "4865" "0" "c.*3278G>A" "r.(=)" "p.(=)" "" "0000543457" "00025711" "70" "4772" "0" "4772" "0" "c.*3278G>A" "r.(=)" "p.(=)" "" "0000543458" "00024080" "30" "4854" "0" "4854" "0" "c.*3267C>T" "r.(=)" "p.(=)" "" "0000543458" "00025711" "30" "4761" "0" "4761" "0" "c.*3267C>T" "r.(=)" "p.(=)" "" "0000543462" "00024080" "50" "1535" "0" "1535" "0" "c.1535del" "r.(?)" "p.(Gly512ValfsTer13)" "" "0000543462" "00025711" "50" "1442" "0" "1442" "0" "c.1442del" "r.(?)" "p.(Gly481ValfsTer13)" "" "0000543463" "00024080" "50" "1516" "0" "1516" "0" "c.1516G>A" "r.(?)" "p.(Val506Met)" "" "0000543463" "00025711" "50" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Val475Met)" "" "0000543464" "00024080" "30" "1491" "0" "1491" "0" "c.1491C>T" "r.(?)" "p.(Ile497=)" "" "0000543464" "00025711" "30" "1398" "0" "1398" "0" "c.1398C>T" "r.(?)" "p.(Ile466=)" "" "0000543466" "00024080" "70" "1475" "0" "1475" "0" "c.1475C>T" "r.(?)" "p.(Pro492Leu)" "" "0000543466" "00025711" "70" "1382" "0" "1382" "0" "c.1382C>T" "r.(?)" "p.(Pro461Leu)" "" "0000543467" "00024080" "50" "1427" "3" "1427" "3" "c.1427+3G>C" "r.spl?" "p.?" "" "0000543467" "00025711" "50" "1334" "3" "1334" "3" "c.1334+3G>C" "r.spl?" "p.?" "" "0000543468" "00024080" "50" "1427" "3" "1427" "3" "c.1427+3G>C" "r.spl?" "p.?" "" "0000543468" "00025711" "50" "1334" "3" "1334" "3" "c.1334+3G>C" "r.spl?" "p.?" "" "0000543469" "00024080" "50" "1390" "0" "1390" "0" "c.1390G>A" "r.(?)" "p.(Val464Met)" "" "0000543469" "00025711" "50" "1297" "0" "1297" "0" "c.1297G>A" "r.(?)" "p.(Val433Met)" "" "0000543470" "00024080" "50" "1389" "0" "1389" "0" "c.1389C>G" "r.(?)" "p.(Phe463Leu)" "" "0000543470" "00025711" "50" "1296" "0" "1296" "0" "c.1296C>G" "r.(?)" "p.(Phe432Leu)" "" "0000543472" "00024080" "30" "1348" "0" "1348" "0" "c.1348G>A" "r.(?)" "p.(Val450Met)" "" "0000543472" "00025711" "30" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Val419Met)" "" "0000543473" "00024080" "30" "1326" "0" "1326" "0" "c.1326C>T" "r.(?)" "p.(Ala442=)" "" "0000543473" "00025711" "30" "1233" "0" "1233" "0" "c.1233C>T" "r.(?)" "p.(Ala411=)" "" "0000543474" "00024080" "30" "1198" "-5" "1198" "-5" "c.1198-5C>G" "r.spl?" "p.?" "" "0000543474" "00025711" "30" "1105" "-5" "1105" "-5" "c.1105-5C>G" "r.spl?" "p.?" "" "0000543475" "00024080" "30" "1198" "-12" "1198" "-12" "c.1198-12G>C" "r.(=)" "p.(=)" "" "0000543475" "00025711" "30" "1105" "-12" "1105" "-12" "c.1105-12G>C" "r.(=)" "p.(=)" "" "0000543476" "00024080" "10" "1198" "-78" "1198" "-78" "c.1198-78A>G" "r.(=)" "p.(=)" "" "0000543476" "00025711" "10" "1105" "-78" "1105" "-78" "c.1105-78A>G" "r.(=)" "p.(=)" "" "0000543477" "00024080" "50" "1195" "0" "1195" "0" "c.1195A>T" "r.(?)" "p.(Thr399Ser)" "" "0000543477" "00025711" "50" "1102" "0" "1102" "0" "c.1102A>T" "r.(?)" "p.(Thr368Ser)" "" "0000543478" "00024080" "50" "1195" "0" "1195" "0" "c.1195A>T" "r.(?)" "p.(Thr399Ser)" "" "0000543478" "00025711" "50" "1102" "0" "1102" "0" "c.1102A>T" "r.(?)" "p.(Thr368Ser)" "" "0000543479" "00024080" "50" "1169" "0" "1169" "0" "c.1169C>T" "r.(?)" "p.(Ser390Leu)" "" "0000543479" "00025711" "50" "1076" "0" "1076" "0" "c.1076C>T" "r.(?)" "p.(Ser359Leu)" "" "0000543480" "00024080" "10" "1070" "8" "1070" "8" "c.1070+8C>G" "r.(=)" "p.(=)" "" "0000543480" "00025711" "10" "977" "8" "977" "8" "c.977+8C>G" "r.(=)" "p.(=)" "" "0000543481" "00024080" "10" "1070" "8" "1070" "8" "c.1070+8C>G" "r.(=)" "p.(=)" "" "0000543481" "00025711" "10" "977" "8" "977" "8" "c.977+8C>G" "r.(=)" "p.(=)" "" "0000543482" "00024080" "10" "1070" "8" "1070" "8" "c.1070+8C>G" "r.(=)" "p.(=)" "" "0000543482" "00025711" "10" "977" "8" "977" "8" "c.977+8C>G" "r.(=)" "p.(=)" "" "0000543483" "00024080" "10" "813" "0" "813" "0" "c.813G>A" "r.(?)" "p.(Lys271=)" "" "0000543483" "00025711" "10" "720" "0" "720" "0" "c.720G>A" "r.(?)" "p.(Lys240=)" "" "0000543484" "00024080" "30" "789" "-3" "789" "-3" "c.789-3C>T" "r.spl?" "p.?" "" "0000543484" "00025711" "30" "696" "-3" "696" "-3" "c.696-3C>T" "r.spl?" "p.?" "" "0000543485" "00024080" "50" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "" "0000543485" "00025711" "50" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202His)" "" "0000543486" "00024080" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "" "0000543486" "00025711" "90" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202His)" "" "0000543487" "00024080" "70" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "" "0000543487" "00025711" "70" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202His)" "" "0000543488" "00024080" "30" "669" "6" "669" "14" "c.669+6_669+14del" "r.(=)" "p.(=)" "" "0000543488" "00025711" "30" "576" "6" "576" "14" "c.576+6_576+14del" "r.(=)" "p.(=)" "" "0000543489" "00024080" "30" "669" "0" "669" "0" "c.669G>A" "r.(?)" "p.(Pro223=)" "" "0000543489" "00025711" "30" "576" "0" "576" "0" "c.576G>A" "r.(?)" "p.(Pro192=)" "" "0000543491" "00024080" "30" "580" "3" "580" "3" "c.580+3G>A" "r.spl?" "p.?" "" "0000543491" "00025711" "30" "487" "3" "487" "3" "c.487+3G>A" "r.spl?" "p.?" "" "0000543492" "00024080" "50" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Val167Met)" "" "0000543492" "00025711" "50" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Val136Met)" "" "0000543493" "00024080" "50" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Val167Met)" "" "0000543493" "00025711" "50" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Val136Met)" "" "0000543494" "00024080" "50" "484" "0" "484" "0" "c.484T>G" "r.(?)" "p.(Phe162Val)" "" "0000543494" "00025711" "50" "391" "0" "391" "0" "c.391T>G" "r.(?)" "p.(Phe131Val)" "" "0000543495" "00024080" "90" "295" "0" "295" "0" "c.295del" "r.(?)" "p.(Leu99TrpfsTer15)" "" "0000543495" "00025711" "90" "202" "0" "202" "0" "c.202del" "r.(?)" "p.(Leu68TrpfsTer15)" "" "0000543496" "00024080" "50" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68Cys)" "" "0000543496" "00025711" "50" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Arg37Cys)" "" "0000543497" "00024080" "30" "197" "0" "197" "0" "c.197T>C" "r.(?)" "p.(Ile66Thr)" "" "0000543497" "00025711" "30" "104" "0" "104" "0" "c.104T>C" "r.(?)" "p.(Ile35Thr)" "" "0000543498" "00024080" "30" "197" "0" "197" "0" "c.197T>C" "r.(?)" "p.(Ile66Thr)" "" "0000543498" "00025711" "30" "104" "0" "104" "0" "c.104T>C" "r.(?)" "p.(Ile35Thr)" "" "0000543499" "00024080" "30" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Ala23Thr)" "" "0000543499" "00025711" "30" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Ala23Thr)" "" "0000543500" "00024080" "50" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15Cys)" "" "0000543500" "00025711" "50" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15Cys)" "" "0000543501" "00024080" "30" "12" "0" "12" "0" "c.12C>T" "r.(?)" "p.(Pro4=)" "" "0000543501" "00025711" "30" "12" "0" "12" "0" "c.12C>T" "r.(?)" "p.(Pro4=)" "" "0000613242" "00024080" "50" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Val499Met)" "" "0000613242" "00025711" "50" "1402" "0" "1402" "0" "c.1402G>A" "r.(?)" "p.(Val468Met)" "" "0000613243" "00024080" "30" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Gly388Arg)" "" "0000613243" "00025711" "30" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Gly357Arg)" "" "0000613244" "00024080" "10" "670" "-22" "670" "-22" "c.670-22C>T" "r.(=)" "p.(=)" "" "0000613244" "00025711" "10" "577" "-22" "577" "-22" "c.577-22C>T" "r.(=)" "p.(=)" "" "0000613245" "00024080" "50" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Val163Met)" "" "0000613245" "00025711" "50" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Val132Met)" "" "0000613246" "00024080" "50" "484" "0" "484" "0" "c.484T>G" "r.(?)" "p.(Phe162Val)" "" "0000613246" "00025711" "50" "391" "0" "391" "0" "c.391T>G" "r.(?)" "p.(Phe131Val)" "" "0000613247" "00024080" "10" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Val112Met)" "" "0000613247" "00025711" "10" "241" "0" "241" "0" "c.241G>A" "r.(?)" "p.(Val81Met)" "" "0000622613" "00024080" "30" "134" "0" "134" "0" "c.134C>T" "r.(?)" "p.(Pro45Leu)" "" "0000622613" "00025711" "30" "91" "-868" "91" "-868" "c.91-868C>T" "r.(=)" "p.(=)" "" "0000648199" "00024080" "50" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Thr494Met)" "" "0000648199" "00025711" "50" "1388" "0" "1388" "0" "c.1388C>T" "r.(?)" "p.(Thr463Met)" "" "0000648200" "00024080" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "" "0000648200" "00025711" "90" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202His)" "" "0000656755" "00024080" "30" "738" "0" "738" "0" "c.738C>T" "r.(?)" "p.(His246=)" "" "0000656755" "00025711" "30" "645" "0" "645" "0" "c.645C>T" "r.(?)" "p.(His215=)" "" "0000656756" "00024080" "30" "687" "0" "687" "0" "c.687G>T" "r.(?)" "p.(Val229=)" "" "0000656756" "00025711" "30" "594" "0" "594" "0" "c.594G>T" "r.(?)" "p.(Val198=)" "" "0000656757" "00024080" "30" "397" "0" "397" "0" "c.397G>T" "r.(?)" "p.(Val133Leu)" "" "0000656757" "00025711" "30" "304" "0" "304" "0" "c.304G>T" "r.(?)" "p.(Val102Leu)" "" "0000656758" "00024080" "50" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Pro2Leu)" "" "0000656758" "00025711" "50" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Pro2Leu)" "" "0000679139" "00024080" "30" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Arg508His)" "" "0000679139" "00025711" "30" "1430" "0" "1430" "0" "c.1430G>A" "r.(?)" "p.(Arg477His)" "" "0000679140" "00024080" "90" "1234" "0" "1234" "0" "c.1234C>A" "r.(?)" "p.(Gln412Lys)" "" "0000679140" "00025711" "90" "1141" "0" "1141" "0" "c.1141C>A" "r.(?)" "p.(Gln381Lys)" "" "0000679141" "00024080" "50" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(His209Tyr)" "" "0000679141" "00025711" "50" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(His178Tyr)" "" "0000679142" "00024080" "50" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Arg129Gln)" "" "0000679142" "00025711" "50" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Arg98Gln)" "" "0000679143" "00024080" "30" "357" "0" "357" "0" "c.357G>A" "r.(?)" "p.(Pro119=)" "" "0000679143" "00025711" "30" "264" "0" "264" "0" "c.264G>A" "r.(?)" "p.(Pro88=)" "" "0000683675" "00024080" "90" "1285" "0" "1285" "0" "c.1285G>A" "r.(?)" "p.(Glu429Lys)" "" "0000683687" "00024080" "90" "1108" "0" "1108" "0" "c.1108C>A" "r.(?)" "p.(Leu370Met)" "" "0000723364" "00024080" "50" "1462" "0" "1462" "0" "c.1462G>A" "r.(?)" "p.(Val488Met)" "" "0000723364" "00025711" "50" "1369" "0" "1369" "0" "c.1369G>A" "r.(?)" "p.(Val457Met)" "" "0000723365" "00024080" "50" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Ala385Val)" "" "0000723365" "00025711" "50" "1061" "0" "1061" "0" "c.1061C>T" "r.(?)" "p.(Ala354Val)" "" "0000723366" "00024080" "50" "1132" "0" "1132" "0" "c.1132T>G" "r.(?)" "p.(Phe378Val)" "" "0000723366" "00025711" "50" "1039" "0" "1039" "0" "c.1039T>G" "r.(?)" "p.(Phe347Val)" "" "0000723367" "00024080" "50" "739" "0" "739" "0" "c.739G>A" "r.(?)" "p.(Gly247Ser)" "" "0000723367" "00025711" "50" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Gly216Ser)" "" "0000763141" "00024080" "70" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Gly294Arg)" "" "0000783229" "00024080" "70" "1145" "0" "1145" "0" "c.1145T>C" "r.(?)" "p.(Ile382Thr)" "" "0000783230" "00024080" "70" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Ala385Val)" "" "0000787418" "00024080" "50" "919" "0" "919" "0" "c.919T>G" "r.(?)" "p.(Ser307Ala)" "8" "0000787488" "00024080" "50" "406" "-3" "406" "-3" "c.406-3A>G" "r.spl" "p.?" "3i" "0000787489" "00024080" "50" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Asp498Asn)" "14" "0000805062" "00024080" "90" "1240" "0" "1240" "0" "c.1240G>A" "r.(?)" "p.(Gly414Arg)" "" "0000805062" "00025711" "90" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Gly383Arg)" "" "0000805063" "00024080" "90" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Thr399Met)" "" "0000805063" "00025711" "90" "1103" "0" "1103" "0" "c.1103C>T" "r.(?)" "p.(Thr368Met)" "" "0000805064" "00024080" "50" "487" "0" "487" "0" "c.487G>T" "r.(?)" "p.(Val163Leu)" "" "0000805064" "00025711" "50" "394" "0" "394" "0" "c.394G>T" "r.(?)" "p.(Val132Leu)" "" "0000852854" "00024080" "30" "1461" "0" "1461" "0" "c.1461C>T" "r.(?)" "p.(Ser487=)" "" "0000852854" "00025711" "30" "1368" "0" "1368" "0" "c.1368C>T" "r.(?)" "p.(Ser456=)" "" "0000862473" "00024080" "30" "5845" "0" "5845" "0" "c.*4258G>A" "r.(=)" "p.(=)" "" "0000862473" "00025711" "30" "5752" "0" "5752" "0" "c.*4258G>A" "r.(=)" "p.(=)" "" "0000862474" "00024080" "30" "5813" "0" "5813" "0" "c.*4226G>A" "r.(=)" "p.(=)" "" "0000862474" "00025711" "30" "5720" "0" "5720" "0" "c.*4226G>A" "r.(=)" "p.(=)" "" "0000862475" "00024080" "10" "5807" "0" "5807" "0" "c.*4220C>T" "r.(=)" "p.(=)" "" "0000862475" "00025711" "10" "5714" "0" "5714" "0" "c.*4220C>T" "r.(=)" "p.(=)" "" "0000862476" "00024080" "50" "5014" "0" "5014" "0" "c.*3427C>T" "r.(=)" "p.(=)" "" "0000862476" "00025711" "50" "4921" "0" "4921" "0" "c.*3427C>T" "r.(=)" "p.(=)" "" "0000862477" "00024080" "70" "4974" "0" "4974" "0" "c.*3387del" "r.(?)" "p.(=)" "" "0000862477" "00025711" "70" "4881" "0" "4881" "0" "c.*3387del" "r.(?)" "p.(=)" "" "0000862478" "00024080" "70" "4971" "0" "4971" "0" "c.*3384del" "r.(?)" "p.(=)" "" "0000862478" "00025711" "70" "4878" "0" "4878" "0" "c.*3384del" "r.(?)" "p.(=)" "" "0000862479" "00024080" "50" "675" "0" "675" "0" "c.675C>A" "r.(?)" "p.(Phe225Leu)" "" "0000862479" "00025711" "50" "582" "0" "582" "0" "c.582C>A" "r.(?)" "p.(Phe194Leu)" "" "0000870257" "00024080" "50" "1016" "0" "1016" "0" "c.1016T>G" "r.(?)" "p.(Phe339Cys)" "" "0000870257" "00025711" "50" "923" "0" "923" "0" "c.923T>G" "r.(?)" "p.(Phe308Cys)" "" "0000870707" "00024080" "90" "1234" "0" "1234" "0" "c.1234C>A" "r.(?)" "p.(Gln412Lys)" "" "0000870707" "00025711" "90" "1141" "0" "1141" "0" "c.1141C>A" "r.(?)" "p.(Gln381Lys)" "" "0000870799" "00024080" "90" "707" "0" "707" "0" "c.707T>C" "r.(?)" "p.(Leu236Pro)" "" "0000870799" "00025711" "90" "614" "0" "614" "0" "c.614T>C" "r.(?)" "p.(Leu205Pro)" "" "0000870800" "00024080" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "" "0000870800" "00025711" "90" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202His)" "" "0000870801" "00024080" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "" "0000870801" "00025711" "90" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202His)" "" "0000870802" "00024080" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "" "0000870802" "00025711" "90" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202His)" "" "0000870803" "00024080" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "" "0000870803" "00025711" "90" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202His)" "" "0000870804" "00024080" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "" "0000870804" "00025711" "90" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202His)" "" "0000870805" "00024080" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "" "0000870805" "00025711" "90" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202His)" "" "0000870806" "00024080" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "" "0000870806" "00025711" "90" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202His)" "" "0000870807" "00024080" "90" "295" "0" "295" "0" "c.295del" "r.(?)" "p.(Leu99Trpfs*15)" "3" "0000870807" "00025711" "90" "202" "0" "202" "0" "c.202del" "r.(?)" "p.(Leu68Trpfs*15)" "" "0000870808" "00024080" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Arg337His)" "" "0000870808" "00025711" "90" "917" "0" "917" "0" "c.917G>A" "r.(?)" "p.(Arg306His)" "" "0000870810" "00024080" "90" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Thr494Met)" "" "0000870810" "00025711" "90" "1388" "0" "1388" "0" "c.1388C>T" "r.(?)" "p.(Thr463Met)" "" "0000870811" "00024080" "90" "826" "0" "826" "0" "c.826A>C" "r.(?)" "p.(Thr276Pro)" "" "0000870811" "00025711" "90" "733" "0" "733" "0" "c.733A>C" "r.(?)" "p.(Thr245Pro)" "" "0000870813" "00024080" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Thr314Met)" "" "0000870813" "00025711" "90" "848" "0" "848" "0" "c.848C>T" "r.(?)" "p.(Thr283Met)" "" "0000870814" "00024080" "90" "698" "0" "698" "0" "c.698G>A" "r.(698g>a)" "p.(Arg233His)" "" "0000870814" "00025711" "90" "605" "0" "605" "0" "c.605G>A" "r.(605g>a)" "p.(Arg202His)" "" "0000870817" "00024080" "90" "1198" "-24" "1198" "-24" "c.1198-24T>A" "r.[1197_1198ins[1198-36_1198-25;a;1198-23_1198-1],1198_1293del]" "p.[Thr399_Leu400insLeuSerLeuGlyArgCysCysProAlaSerProGln,Leu400_Leu431del]" "11i" "0000870817" "00025711" "90" "1105" "-24" "1105" "-24" "c.1105-24T>A" "r.[1104_1105ins[1105-36_1105-25;a;1105-23_1105-1],1105_1200del]" "p.[Thr368_Leu369insLeuSerLeuGlyArgCysCysProAlaSerProGln,Leu369_Leu400del]" "10i" "0000870833" "00024080" "90" "-69" "0" "-69" "0" "c.-69T>A" "r.?" "p.?" "_1" "0000870834" "00024080" "90" "1159" "0" "1159" "0" "c.1159C>A" "r.(?)" "p.(Leu387Met)" "" "0000870834" "00025711" "90" "1066" "0" "1066" "0" "c.1066C>A" "r.(?)" "p.(Leu356Met)" "" "0000870835" "00024080" "90" "-70" "0" "-70" "0" "c.-70G>A" "r.?" "p.?" "_1" "0000870836" "00024080" "90" "-70" "0" "-70" "0" "c.-70G>A" "r.?" "p.?" "_1" "0000870837" "00024080" "90" "1475" "0" "1475" "0" "c.1475C>T" "r.(?)" "p.(Pro492Leu)" "" "0000870837" "00025711" "90" "1382" "0" "1382" "0" "c.1382C>T" "r.(?)" "p.(Pro461Leu)" "" "0000870838" "00024080" "90" "-71" "0" "-71" "0" "c.-71C>T" "r.?" "p.?" "_1" "0000870839" "00024080" "90" "-70" "0" "-70" "0" "c.-70G>A" "r.?" "p.?" "_1" "0000870942" "00024080" "90" "1076" "0" "1076" "0" "c.1076G>T" "r.(?)" "p.(Cys359Phe)" "" "0000870942" "00025711" "90" "983" "0" "983" "0" "c.983G>T" "r.(?)" "p.(Cys328Phe)" "" "0000870943" "00024080" "10" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Val112Met)" "" "0000870943" "00025711" "10" "241" "0" "241" "0" "c.241G>A" "r.(?)" "p.(Val81Met)" "" "0000870944" "00024080" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "" "0000870944" "00025711" "90" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202His)" "" "0000889758" "00024080" "30" "5881" "0" "5881" "0" "c.*4294G>A" "r.(=)" "p.(=)" "" "0000889758" "00025711" "30" "5788" "0" "5788" "0" "c.*4294G>A" "r.(=)" "p.(=)" "" "0000889759" "00024080" "50" "5807" "0" "5807" "0" "c.*4220C>A" "r.(=)" "p.(=)" "" "0000889759" "00025711" "50" "5714" "0" "5714" "0" "c.*4220C>A" "r.(=)" "p.(=)" "" "0000889760" "00024080" "90" "822" "0" "822" "0" "c.822C>A" "r.(?)" "p.(Tyr274*)" "" "0000889760" "00025711" "90" "729" "0" "729" "0" "c.729C>A" "r.(?)" "p.(Tyr243*)" "" "0000913551" "00024080" "50" "5871" "0" "5871" "0" "c.*4284C>T" "r.(=)" "p.(=)" "" "0000913551" "00025711" "50" "5778" "0" "5778" "0" "c.*4284C>T" "r.(=)" "p.(=)" "" "0000929840" "00024080" "70" "5792" "0" "5792" "0" "c.*4205G>A" "r.(=)" "p.(=)" "" "0000929840" "00025711" "70" "5699" "0" "5699" "0" "c.*4205G>A" "r.(=)" "p.(=)" "" "0000949641" "00024080" "10" "1494" "0" "1494" "0" "c.1494C>T" "r.(?)" "p.(=)" "" "0000949641" "00025711" "10" "1401" "0" "1401" "0" "c.1401C>T" "r.(?)" "p.(=)" "" "0000966299" "00024080" "10" "4840" "0" "4840" "0" "c.*3253C>T" "r.(=)" "p.(=)" "" "0000966299" "00025711" "10" "4747" "0" "4747" "0" "c.*3253C>T" "r.(=)" "p.(=)" "" "0000966301" "00024080" "50" "1482" "0" "1482" "0" "c.1482G>T" "r.(?)" "p.(=)" "" "0000966301" "00025711" "50" "1389" "0" "1389" "0" "c.1389G>T" "r.(?)" "p.(=)" "" "0000966302" "00024080" "50" "1470" "0" "1470" "0" "c.1470C>T" "r.(?)" "p.(=)" "" "0000966302" "00025711" "50" "1377" "0" "1377" "0" "c.1377C>T" "r.(?)" "p.(=)" "" "0000966303" "00024080" "30" "1263" "0" "1263" "0" "c.1263C>T" "r.(?)" "p.(=)" "" "0000966303" "00025711" "30" "1170" "0" "1170" "0" "c.1170C>T" "r.(?)" "p.(=)" "" "0000966304" "00024080" "30" "1198" "-5" "1198" "-5" "c.1198-5C>T" "r.spl?" "p.?" "" "0000966304" "00025711" "30" "1105" "-5" "1105" "-5" "c.1105-5C>T" "r.spl?" "p.?" "" "0000966305" "00024080" "70" "1159" "0" "1159" "0" "c.1159C>A" "r.(?)" "p.(Leu387Met)" "" "0000966305" "00025711" "70" "1066" "0" "1066" "0" "c.1066C>A" "r.(?)" "p.(Leu356Met)" "" "0000966306" "00024080" "90" "-71" "0" "-71" "0" "c.-71C>T" "r.(?)" "p.(=)" "" "0000966306" "00025711" "90" "-71" "0" "-71" "0" "c.-71C>T" "r.(?)" "p.(=)" "" "0000979513" "00024080" "50" "1442" "0" "1442" "0" "c.1442G>A" "r.(?)" "p.(Arg481His)" "" "0000979513" "00025711" "50" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" "" "0000979514" "00024080" "50" "1441" "0" "1441" "0" "c.1441C>T" "r.(?)" "p.(Arg481Cys)" "" "0000979514" "00025711" "50" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Arg450Cys)" "" "0000979515" "00024080" "30" "1428" "-11" "1428" "-11" "c.1428-11C>G" "r.(=)" "p.(=)" "" "0000979515" "00025711" "30" "1335" "-11" "1335" "-11" "c.1335-11C>G" "r.(=)" "p.(=)" "" "0000979516" "00024080" "30" "1401" "0" "1401" "0" "c.1401C>T" "r.(?)" "p.(=)" "" "0000979516" "00025711" "30" "1308" "0" "1308" "0" "c.1308C>T" "r.(?)" "p.(=)" "" "0000979517" "00024080" "30" "1263" "0" "1263" "0" "c.1263C>G" "r.(?)" "p.(Ala421=)" "" "0000979517" "00025711" "30" "1170" "0" "1170" "0" "c.1170C>G" "r.(?)" "p.(Ala390=)" "" "0000979518" "00024080" "90" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Thr399Met)" "" "0000979518" "00025711" "90" "1103" "0" "1103" "0" "c.1103C>T" "r.(?)" "p.(Thr368Met)" "" "0000979519" "00024080" "50" "677" "0" "677" "0" "c.677C>T" "r.(?)" "p.(Ser226Leu)" "" "0000979519" "00025711" "50" "584" "0" "584" "0" "c.584C>T" "r.(?)" "p.(Ser195Leu)" "" "0000979520" "00024080" "50" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Glu106Lys)" "" "0000979520" "00025711" "50" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Glu75Lys)" "" "0000979521" "00024080" "50" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Ala23Thr)" "" "0000979521" "00025711" "50" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Ala23Thr)" "" "0000998951" "00024080" "90" "5900" "0" "5900" "0" "c.*4313C>T" "r.(=)" "p.(=)" "" "0000998951" "00025711" "90" "5807" "0" "5807" "0" "c.*4313C>T" "r.(=)" "p.(=)" "" "0001014780" "00024080" "30" "1476" "0" "1476" "0" "c.1476G>A" "r.(?)" "p.(Pro492=)" "" "0001014780" "00025711" "30" "1383" "0" "1383" "0" "c.1383G>A" "r.(?)" "p.(Pro461=)" "" "0001014781" "00024080" "50" "1198" "-8" "1198" "-8" "c.1198-8C>T" "r.(=)" "p.(=)" "" "0001014781" "00025711" "50" "1105" "-8" "1105" "-8" "c.1105-8C>T" "r.(=)" "p.(=)" "" "0001025957" "00024080" "30" "5047" "0" "5047" "0" "c.*3460G>A" "r.(=)" "p.(=)" "" "0001025957" "00025711" "30" "4954" "0" "4954" "0" "c.*3460G>A" "r.(=)" "p.(=)" "" "0001025958" "00024080" "90" "4942" "0" "4942" "0" "c.*3355G>A" "r.(=)" "p.(=)" "" "0001025958" "00025711" "90" "4849" "0" "4849" "0" "c.*3355G>A" "r.(=)" "p.(=)" "" "0001038398" "00024080" "50" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Val163Met)" "" "0001038398" "00025711" "50" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Val132Met)" "" "0001038399" "00024080" "70" "102" "1" "102" "1" "c.102+1G>A" "r.spl?" "p.?" "" "0001038399" "00025711" "70" "90" "13" "90" "13" "c.90+13G>A" "r.(=)" "p.(=)" "" "0001046305" "00024080" "70" "4968" "0" "4968" "0" "c.*3381C>G" "r.(=)" "p.(=)" "" "0001046305" "00025711" "70" "4875" "0" "4875" "0" "c.*3381C>G" "r.(=)" "p.(=)" "" "0001053767" "00024080" "50" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.(Arg15His)" "" "0001053767" "00025711" "50" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.(Arg15His)" "" "0001059245" "00024080" "90" "1125" "0" "1125" "0" "c.1125C>G" "r.(?)" "p.(Phe375Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 39 "{{screeningid}}" "{{variantid}}" "0000054828" "0000084845" "0000291510" "0000648199" "0000291511" "0000648200" "0000309175" "0000683675" "0000309175" "0000683687" "0000362767" "0000763141" "0000373261" "0000783229" "0000373261" "0000783230" "0000375539" "0000787488" "0000375539" "0000787489" "0000376067" "0000787418" "0000412883" "0000870257" "0000413263" "0000870707" "0000413353" "0000870799" "0000413354" "0000870800" "0000413355" "0000870801" "0000413356" "0000870802" "0000413357" "0000870803" "0000413358" "0000870804" "0000413359" "0000870805" "0000413360" "0000870806" "0000413360" "0000870807" "0000413361" "0000870808" "0000413361" "0000870810" "0000413362" "0000870811" "0000413362" "0000870813" "0000413363" "0000870814" "0000413363" "0000870817" "0000413380" "0000870833" "0000413381" "0000870834" "0000413381" "0000870838" "0000413382" "0000870835" "0000413383" "0000870836" "0000413384" "0000870837" "0000413384" "0000870839" "0000413447" "0000870942" "0000413447" "0000870943" "0000413448" "0000870944" "0000471123" "0001059245"