### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = INSR) # 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}}" "INSR" "insulin receptor" "19" "p13.3-p13.2" "unknown" "NG_008852.2" "UD_132118620192" "" "https://www.LOVD.nl/INSR" "" "1" "6091" "3643" "147670" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/INSR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-01-23 14:11:36" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00010071" "INSR" "transcript variant 1" "002" "NM_000208.2" "" "NP_000199.2" "" "" "" "-109" "8950" "4149" "7294011" "7112266" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01893" "LEPRECHAUNISM" "Leprechaunism (Donohue syndrome)" "AR" "246200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02015" "-" "Rabson-Mendenhall syndrome" "AR" "262190" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02888" "HHF5" "Hyperinsulinemic hypoglycemia familial 5" "AD" "609968" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02957" "-" "Insulin-resistant diabetes mellitus and acanthosis nigricans" "" "610549" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:51:33" "04509" "IMD28" "immunodeficiency, type 28, mycobacteriosis (IMD-28)" "AR" "614889" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "INSR" "01893" "INSR" "02015" "INSR" "02888" "INSR" "02957" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00080794" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00080809" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00292205" "" "" "" "26" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292206" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292207" "" "" "" "120" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304678" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00359590" "" "" "" "1" "" "01482" "" "" "M" "no" "China" "" "" "" "" "" "" "00359591" "" "" "" "1" "" "01482" "" "" "M" "no" "China" "" "" "" "" "Asian" "" "00359592" "" "" "" "2" "" "01482" "" "" "F" "" "China" "" "" "" "" "Asian" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00080794" "02015" "00080794" "04509" "00080809" "02015" "00292205" "00198" "00292206" "00198" "00292207" "00198" "00304678" "00198" "00359590" "02957" "00359591" "02957" "00359592" "02957" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01893, 02015, 02888, 02957, 04509 ## Count = 6 "{{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}}" "0000060363" "02015" "00080794" "01758" "Familial, autosomal recessive" "" "Rabson-Mendenhall syndrome (OMIM:262190)" "" "" "" "" "" "" "" "" "" "" "" "0000060378" "02015" "00080809" "01758" "Familial, autosomal recessive" "" "Rabson-Mendenhall syndrome (OMIM:262190)" "" "" "" "" "" "" "" "" "" "" "" "0000060672" "04509" "00080794" "01758" "Familial, autosomal recessive" "" "Immunodeficiency 28, mycobacteriosis (OMIM:614889)" "" "" "" "" "" "" "" "" "" "" "" "0000254862" "02957" "00359590" "01482" "Familial, autosomal recessive" "" "HP:0000842 Hyperinsulinemia\r\nHP:0000369 Low-set ears\r\nHP:0001525 Severe failure to thrive\r\nHP:0001511 Intrauterine growth retardation\r\nHP:0000956 Acanthosis nigricans\r\nHP:0004428 Elfin facies\r\nHP:0008850 Severe postnatal growth retardation\r\nHP:0003162 Fasting hypoglycemia\r\nHP:0003758 Reduced subcutaneous adipose tissue\r\nHP:0000121 Nephrocalcinosis\r\nHP:0011344 Severe global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000254863" "02957" "00359591" "01482" "Familial, autosomal recessive" "" "HP:0000842 Hyperinsulinemia\r\nHP:0000956 Acanthosis nigricans\r\nHP:0008850 Severe postnatal growth retardation" "" "03y06m" "HP:0000956 Acanthosis nigricans" "" "" "" "" "" "" "" "" "0000254864" "02957" "00359592" "01482" "Familial, autosomal dominant" "09y08m" "HP:0000842 Hyperinsulinemia\r\nHP:0000956 Acanthosis nigricans\r\nHP:0005978 Type II diabetes mellitus" "" "09y08m" "HP:0000956 Acanthosis nigricans" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080906" "00080794" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000080921" "00080809" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000293373" "00292205" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293374" "00292206" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293375" "00292207" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305807" "00304678" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000360820" "00359590" "1" "01482" "01482" "2021-03-28 15:02:22" "" "" "SEQ-NG" "RNA" "" "" "0000360821" "00359591" "1" "01482" "01482" "2021-03-28 15:38:43" "" "" "SEQ-NG" "DNA" "" "" "0000360822" "00359592" "1" "01482" "01482" "2021-03-28 16:02:07" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000080906" "IFNGR2" "0000080906" "INSR" "0000080921" "INSR" "0000360820" "INSR" "0000360821" "INSR" "0000360822" "INSR" ## 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 = 249 "{{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}}" "0000129980" "3" "90" "19" "7267575" "7267575" "subst" "0" "01758" "INSR_000001" "g.7267575G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.7267564G>A" "" "pathogenic" "ACMG" "0000130007" "3" "90" "19" "7267575" "7267575" "subst" "0" "01758" "INSR_000001" "g.7267575G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.7267564G>A" "" "pathogenic" "ACMG" "0000281552" "0" "10" "19" "7166376" "7166376" "subst" "0.256878" "02325" "INSR_000007" "g.7166376C>T" "" "" "" "INSR(NM_000208.4):c.1650G>A (p.A550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7166365C>T" "" "benign" "" "0000281553" "0" "50" "19" "7132189" "7132189" "subst" "8.12401E-6" "02325" "INSR_000003" "g.7132189T>C" "" "" "" "INSR(NM_000208.4):c.2822A>G (p.Y941C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7132178T>C" "" "VUS" "" "0000281554" "0" "10" "19" "7184671" "7184672" "del" "0" "02325" "INSR_000010" "g.7184671_7184672del" "" "" "" "INSR(NM_000208.2):c.653-5_653-4del (p.?), INSR(NM_000208.3):c.653-5_653-4delTC, INSR(NM_000208.4):c.653-5_653-4delTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7184660_7184661del" "" "benign" "" "0000289654" "0" "30" "19" "7150532" "7150532" "subst" "0.000800644" "01943" "INSR_000006" "g.7150532G>A" "" "" "" "INSR(NM_000208.2):c.2243C>T (p.(Ser748Leu)), INSR(NM_000208.3):c.2243C>T (p.S748L), INSR(NM_000208.4):c.2243C>T (p.S748L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7150521G>A" "" "likely benign" "" "0000289655" "0" "30" "19" "7143074" "7143074" "subst" "0.000776606" "01943" "INSR_000005" "g.7143074G>A" "" "" "" "INSR(NM_000208.2):c.2295C>T (p.(Gly765=)), INSR(NM_000208.3):c.2295C>T (p.G765=), INSR(NM_000208.4):c.2295C>T (p.G765=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7143063G>A" "" "likely benign" "" "0000289656" "0" "30" "19" "7132245" "7132245" "subst" "0.000101553" "01943" "INSR_000004" "g.7132245G>A" "" "" "" "INSR(NM_000208.2):c.2766C>T (p.(Ser922=)), INSR(NM_000208.3):c.2766C>T (p.S922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7132234G>A" "" "likely benign" "" "0000289657" "0" "10" "19" "7184671" "7184672" "del" "0" "01943" "INSR_000010" "g.7184671_7184672del" "" "" "" "INSR(NM_000208.2):c.653-5_653-4del (p.?), INSR(NM_000208.3):c.653-5_653-4delTC, INSR(NM_000208.4):c.653-5_653-4delTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7184660_7184661del" "" "benign" "" "0000326097" "0" "50" "19" "7117297" "7117297" "subst" "4.46697E-5" "01804" "INSR_000002" "g.7117297C>T" "" "" "" "INSR(NM_000208.2):c.3919G>A (p.(Glu1307Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7117286C>T" "" "VUS" "" "0000326098" "0" "30" "19" "7184345" "7184345" "subst" "0" "01804" "INSR_000008" "g.7184345T>A" "" "" "" "INSR(NM_000208.2):c.956A>T (p.(Tyr319Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7184334T>A" "" "likely benign" "" "0000341938" "0" "90" "19" "7267575" "7267575" "subst" "0" "02327" "INSR_000001" "g.7267575G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7267564G>A" "" "pathogenic" "" "0000568693" "0" "30" "19" "7117079" "7117079" "subst" "1.21867E-5" "01804" "INSR_000011" "g.7117079G>A" "" "" "" "INSR(NM_000208.2):c.4137C>T (p.(Ser1379=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7117068G>A" "" "likely benign" "" "0000568694" "0" "10" "19" "7117426" "7117426" "subst" "0.0264355" "01804" "INSR_000012" "g.7117426G>A" "" "" "" "INSR(NM_000208.2):c.3795-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7117415G>A" "" "benign" "" "0000568695" "0" "30" "19" "7120766" "7120766" "subst" "0" "01804" "INSR_000013" "g.7120766A>G" "" "" "" "INSR(NM_000208.2):c.3530-6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7120755A>G" "" "likely benign" "" "0000568696" "0" "30" "19" "7122796" "7122796" "subst" "0.000268062" "01804" "INSR_000014" "g.7122796A>C" "" "" "" "INSR(NM_000208.2):c.3370-12T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7122785A>C" "" "likely benign" "" "0000568697" "0" "30" "19" "7122799" "7122799" "subst" "0.00707189" "01804" "INSR_000015" "g.7122799C>T" "" "" "" "INSR(NM_000208.2):c.3370-15G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7122788C>T" "" "likely benign" "" "0000568698" "0" "30" "19" "7122935" "7122935" "subst" "3.7912E-5" "01943" "INSR_000016" "g.7122935G>A" "" "" "" "INSR(NM_000208.3):c.3324C>T (p.H1108=), INSR(NM_000208.4):c.3324C>T (p.H1108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7122924G>A" "" "likely benign" "" "0000568699" "0" "30" "19" "7125278" "7125278" "subst" "0.000307261" "01804" "INSR_000017" "g.7125278C>T" "" "" "" "INSR(NM_000208.2):c.3258+16G>A (p.(=)), INSR(NM_000208.4):c.3258+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7125267C>T" "" "likely benign" "" "0000568700" "0" "50" "19" "7125349" "7125349" "subst" "5.28808E-5" "01804" "INSR_000018" "g.7125349C>T" "" "" "" "INSR(NM_000208.2):c.3203G>A (p.(Arg1068Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7125338C>T" "" "VUS" "" "0000568701" "0" "30" "19" "7125394" "7125394" "subst" "4.87484E-5" "01804" "INSR_000019" "g.7125394C>T" "" "" "" "INSR(NM_000208.2):c.3158G>A (p.(Arg1053His)), INSR(NM_000208.4):c.3158G>A (p.R1053H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7125383C>T" "" "likely benign" "" "0000568702" "0" "50" "19" "7125459" "7125459" "subst" "0" "01804" "INSR_000020" "g.7125459C>G" "" "" "" "INSR(NM_000208.2):c.3093G>C (p.(Gln1031His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7125448C>G" "" "VUS" "" "0000568703" "0" "50" "19" "7125460" "7125460" "subst" "0" "01804" "INSR_000021" "g.7125460T>G" "" "" "" "INSR(NM_000208.2):c.3092A>C (p.(Gln1031Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7125449T>G" "" "VUS" "" "0000568705" "0" "30" "19" "7125518" "7125518" "subst" "0.00847919" "01804" "INSR_000023" "g.7125518C>T" "" "" "" "INSR(NM_000208.2):c.3034G>A (p.(Val1012Met)), INSR(NM_000208.4):c.3034G>A (p.V1012M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7125507C>T" "" "likely benign" "" "0000568706" "0" "10" "19" "7125518" "7125518" "subst" "0.00847919" "02325" "INSR_000023" "g.7125518C>T" "" "" "" "INSR(NM_000208.2):c.3034G>A (p.(Val1012Met)), INSR(NM_000208.4):c.3034G>A (p.V1012M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7125507C>T" "" "benign" "" "0000568707" "0" "30" "19" "7125519" "7125519" "subst" "0.0506871" "01804" "INSR_000024" "g.7125519G>A" "" "" "" "INSR(NM_000208.2):c.3033C>T (p.(Tyr1011=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7125508G>A" "" "likely benign" "" "0000568708" "0" "30" "19" "7125529" "7125529" "subst" "4.07123E-6" "01943" "INSR_000025" "g.7125529C>G" "" "" "" "INSR(NM_000208.3):c.3023G>C (p.C1008S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7125518C>G" "" "likely benign" "" "0000568709" "0" "30" "19" "7126638" "7126638" "subst" "0.000368438" "01804" "INSR_000026" "g.7126638C>T" "" "" "" "INSR(NM_000208.2):c.2970G>A (p.(Pro990=)), INSR(NM_000208.4):c.2970G>A (p.P990=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7126627C>T" "" "likely benign" "" "0000568710" "0" "50" "19" "7126658" "7126658" "subst" "1.19271E-5" "01804" "INSR_000027" "g.7126658G>C" "" "" "" "INSR(NM_000208.2):c.2950C>G (p.(Pro984Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7126647G>C" "" "VUS" "" "0000568711" "0" "30" "19" "7126676" "7126676" "subst" "0.000704748" "01804" "INSR_000028" "g.7126676A>G" "" "" "" "INSR(NM_000208.2):c.2946-14T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7126665A>G" "" "likely benign" "" "0000568712" "0" "30" "19" "7132173" "7132173" "subst" "0.00136152" "01804" "INSR_000029" "g.7132173G>C" "" "" "" "INSR(NM_000208.2):c.2838C>G (p.(Asp946Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7132162G>C" "" "likely benign" "" "0000568713" "0" "10" "19" "7132333" "7132333" "subst" "0.00176476" "01943" "INSR_000030" "g.7132333G>A" "" "" "" "INSR(NM_000208.2):c.2683-5C>T (p.?), INSR(NM_000208.3):c.2683-5C>T, INSR(NM_000208.4):c.2683-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7132322G>A" "" "benign" "" "0000568714" "0" "30" "19" "7132333" "7132333" "subst" "0.00176476" "01804" "INSR_000030" "g.7132333G>A" "" "" "" "INSR(NM_000208.2):c.2683-5C>T (p.?), INSR(NM_000208.3):c.2683-5C>T, INSR(NM_000208.4):c.2683-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7132322G>A" "" "likely benign" "" "0000568715" "0" "30" "19" "7141679" "7141679" "subst" "0.00247382" "01804" "INSR_000031" "g.7141679G>C" "" "" "" "INSR(NM_000208.2):c.2682+9C>G (p.(=)), INSR(NM_000208.4):c.2682+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7141668G>C" "" "likely benign" "" "0000568716" "0" "30" "19" "7141727" "7141727" "subst" "0.0111018" "01804" "INSR_000032" "g.7141727G>A" "" "" "" "INSR(NM_000208.2):c.2643C>T (p.(Ile881=)), INSR(NM_000208.4):c.2643C>T (p.I881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7141716G>A" "" "likely benign" "" "0000568717" "0" "30" "19" "7141772" "7141772" "subst" "4.06065E-6" "01804" "INSR_000033" "g.7141772G>A" "" "" "" "INSR(NM_000208.2):c.2598C>T (p.(Val866=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7141761G>A" "" "likely benign" "" "0000568718" "0" "30" "19" "7141795" "7141795" "subst" "0.00032081" "01804" "INSR_000034" "g.7141795G>A" "" "" "" "INSR(NM_000208.2):c.2575C>T (p.(His859Tyr)), INSR(NM_000208.3):c.2575C>T (p.H859Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7141784G>A" "" "likely benign" "" "0000568719" "0" "30" "19" "7142824" "7142824" "subst" "0.011128" "01804" "INSR_000035" "g.7142824T>C" "" "" "" "INSR(NM_000208.2):c.2542+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7142813T>C" "" "likely benign" "" "0000568720" "0" "30" "19" "7142843" "7142843" "subst" "0.0111437" "01804" "INSR_000036" "g.7142843C>G" "" "" "" "INSR(NM_000208.2):c.2526G>C (p.(Ala842=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7142832C>G" "" "likely benign" "" "0000568721" "0" "30" "19" "7142921" "7142921" "subst" "0.0110148" "01804" "INSR_000037" "g.7142921C>T" "" "" "" "INSR(NM_000208.2):c.2448G>A (p.(Thr816=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7142910C>T" "" "likely benign" "" "0000568722" "0" "30" "19" "7143074" "7143074" "subst" "0.000776606" "01804" "INSR_000005" "g.7143074G>A" "" "" "" "INSR(NM_000208.2):c.2295C>T (p.(Gly765=)), INSR(NM_000208.3):c.2295C>T (p.G765=), INSR(NM_000208.4):c.2295C>T (p.G765=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7143063G>A" "" "likely benign" "" "0000568723" "0" "30" "19" "7143089" "7143089" "subst" "2.44063E-5" "01804" "INSR_000038" "g.7143089T>C" "" "" "" "INSR(NM_000208.2):c.2280A>G (p.(Lys760=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7143078T>C" "" "likely benign" "" "0000568724" "0" "30" "19" "7143108" "7143108" "subst" "2.85072E-5" "01804" "INSR_000039" "g.7143108C>T" "" "" "" "INSR(NM_000208.2):c.2268-7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7143097C>T" "" "likely benign" "" "0000568725" "0" "10" "19" "7150491" "7150491" "subst" "0.0200415" "01804" "INSR_000040" "g.7150491G>A" "" "" "" "INSR(NM_000208.2):c.2267+17C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7150480G>A" "" "benign" "" "0000568726" "0" "30" "19" "7150512" "7150512" "subst" "0.000170736" "01804" "INSR_000041" "g.7150512G>A" "" "" "" "INSR(NM_000208.2):c.2263C>T (p.(Pro755Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7150501G>A" "" "likely benign" "" "0000568727" "0" "30" "19" "7150532" "7150532" "subst" "0.000800644" "01804" "INSR_000006" "g.7150532G>A" "" "" "" "INSR(NM_000208.2):c.2243C>T (p.(Ser748Leu)), INSR(NM_000208.3):c.2243C>T (p.S748L), INSR(NM_000208.4):c.2243C>T (p.S748L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7150521G>A" "" "likely benign" "" "0000568728" "0" "30" "19" "7150563" "7150563" "subst" "4.06788E-6" "01804" "INSR_000042" "g.7150563G>A" "" "" "" "INSR(NM_000208.2):c.2232-20C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7150552G>A" "" "likely benign" "" "0000568729" "0" "10" "19" "7152717" "7152717" "subst" "0.0152331" "01804" "INSR_000043" "g.7152717G>T" "" "" "" "INSR(NM_000208.2):c.2231+20C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7152706G>T" "" "benign" "" "0000568730" "0" "30" "19" "7152775" "7152775" "subst" "0.00373562" "01804" "INSR_000044" "g.7152775C>T" "" "" "" "INSR(NM_000208.2):c.2193G>A (p.(Thr731=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7152764C>T" "" "likely benign" "" "0000568731" "0" "30" "19" "7152851" "7152851" "subst" "0.000109671" "01804" "INSR_000045" "g.7152851G>T" "" "" "" "INSR(NM_000208.2):c.2117C>A (p.(Ala706Asp)), INSR(NM_000208.4):c.2117C>A (p.A706D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7152840G>T" "" "likely benign" "" "0000568732" "0" "30" "19" "7152884" "7152884" "subst" "9.34458E-5" "01943" "INSR_000046" "g.7152884T>C" "" "" "" "INSR(NM_000208.3):c.2084A>G (p.Q695R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7152873T>C" "" "likely benign" "" "0000568733" "0" "30" "19" "7163083" "7163083" "subst" "0.00243639" "01804" "INSR_000047" "g.7163083C>T" "" "" "" "INSR(NM_000208.2):c.1989G>A (p.(Ala663=)), INSR(NM_000208.4):c.1989G>A (p.A663=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7163072C>T" "" "likely benign" "" "0000568734" "0" "30" "19" "7168086" "7168086" "subst" "0.000125913" "01804" "INSR_000048" "g.7168086T>C" "" "" "" "INSR(NM_000208.2):c.1503A>G (p.(Lys501=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7168075T>C" "" "likely benign" "" "0000568735" "0" "30" "19" "7174581" "7174581" "subst" "0.00607873" "01804" "INSR_000049" "g.7174581C>A" "" "" "" "INSR(NM_000208.2):c.1123+13G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7174570C>A" "" "likely benign" "" "0000568736" "0" "30" "19" "7174619" "7174619" "subst" "0.00968334" "01804" "INSR_000050" "g.7174619A>G" "" "" "" "INSR(NM_000208.2):c.1098T>C (p.(Ser366=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7174608A>G" "" "likely benign" "" "0000568737" "0" "30" "19" "7174637" "7174637" "subst" "0.00183198" "01804" "INSR_000051" "g.7174637G>A" "" "" "" "INSR(NM_000208.2):c.1080C>T (p.(Cys360=)), INSR(NM_000208.4):c.1080C>T (p.C360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7174626G>A" "" "likely benign" "" "0000568738" "0" "50" "19" "7174672" "7174672" "subst" "4.06289E-6" "01804" "INSR_000052" "g.7174672C>T" "" "" "" "INSR(NM_000208.2):c.1045G>A (p.(Asp349Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7174661C>T" "" "VUS" "" "0000568740" "0" "30" "19" "7184350" "7184350" "subst" "1.21936E-5" "01804" "INSR_000054" "g.7184350G>A" "" "" "" "INSR(NM_000208.2):c.951C>T (p.(Ser317=)), INSR(NM_000208.3):c.951C>T (p.S317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7184339G>A" "" "likely benign" "" "0000568741" "0" "10" "19" "7184392" "7184392" "subst" "0.00228646" "01804" "INSR_000055" "g.7184392C>T" "" "" "" "INSR(NM_000208.2):c.909G>A (p.(Gln303=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7184381C>T" "" "benign" "" "0000568742" "0" "30" "19" "7184420" "7184420" "subst" "0.000194941" "01943" "INSR_000056" "g.7184420T>C" "" "" "" "INSR(NM_000208.2):c.881A>G (p.(Lys294Arg)), INSR(NM_000208.3):c.881A>G (p.K294R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7184409T>C" "" "likely benign" "" "0000568743" "0" "10" "19" "7184431" "7184431" "subst" "0.000893459" "01943" "INSR_000057" "g.7184431G>A" "" "" "" "INSR(NM_000208.2):c.870C>T (p.(His290=)), INSR(NM_000208.3):c.870C>T (p.H290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7184420G>A" "" "benign" "" "0000568744" "0" "30" "19" "7184611" "7184611" "subst" "0.000144581" "01804" "INSR_000058" "g.7184611G>A" "" "" "" "INSR(NM_000208.2):c.690C>T (p.(Ala230=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7184600G>A" "" "likely benign" "" "0000568750" "0" "10" "19" "7184655" "7184655" "del" "0" "01804" "INSR_000064" "g.7184655del" "" "" "" "INSR(NM_000208.2):c.653-7delT (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7184644del" "" "benign" "" "0000568751" "0" "10" "19" "7184657" "7184657" "del" "0" "01804" "INSR_000065" "g.7184657del" "" "" "" "INSR(NM_000208.2):c.653-9delT (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7184646del" "" "benign" "" "0000568752" "0" "10" "19" "7184669" "7184672" "dup" "0" "01943" "INSR_000066" "g.7184669_7184672dup" "" "" "" "INSR(NM_000208.2):c.653-4_653-3insTCTC (p.?), INSR(NM_000208.3):c.653-7_653-4dupTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7184658_7184661dup" "" "benign" "" "0000568753" "0" "30" "19" "7184671" "7184672" "del" "0" "01804" "INSR_000010" "g.7184671_7184672del" "" "" "" "INSR(NM_000208.2):c.653-5_653-4del (p.?), INSR(NM_000208.3):c.653-5_653-4delTC, INSR(NM_000208.4):c.653-5_653-4delTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7184660_7184661del" "" "likely benign" "" "0000568755" "0" "10" "19" "7184671" "7184672" "dup" "0" "01943" "INSR_000067" "g.7184671_7184672dup" "" "" "" "INSR(NM_000208.2):c.653-4_653-3insTC (p.?), INSR(NM_000208.3):c.653-5_653-4dupTC, INSR(NM_000208.4):c.653-5_653-4dupTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7184660_7184661dup" "" "benign" "" "0000568756" "0" "30" "19" "7267374" "7267374" "subst" "0" "01804" "INSR_000068" "g.7267374G>C" "" "" "" "INSR(NM_000208.2):c.634C>G (p.(His212Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7267363G>C" "" "likely benign" "" "0000568757" "0" "30" "19" "7267390" "7267390" "subst" "0.00209975" "01804" "INSR_000069" "g.7267390G>A" "" "" "" "INSR(NM_000208.2):c.618C>T (p.(Val206=)), INSR(NM_000208.4):c.618C>T (p.V206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7267379G>A" "" "likely benign" "" "0000568758" "0" "30" "19" "7267615" "7267615" "subst" "8.13246E-6" "01943" "INSR_000070" "g.7267615G>A" "" "" "" "INSR(NM_000208.3):c.393C>T (p.L131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7267604G>A" "" "likely benign" "" "0000568760" "0" "30" "19" "7267730" "7267730" "subst" "0" "01804" "INSR_000072" "g.7267730A>G" "" "" "" "INSR(NM_000208.2):c.278T>C (p.(Val93Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7267719A>G" "" "likely benign" "" "0000568762" "0" "10" "19" "7267746" "7267746" "subst" "0.00174268" "01943" "INSR_000074" "g.7267746A>G" "" "" "" "INSR(NM_000208.2):c.262T>C (p.(Leu88=)), INSR(NM_000208.3):c.262T>C (p.L88=), INSR(NM_000208.4):c.262T>C (p.L88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7267735A>G" "" "benign" "" "0000568763" "0" "10" "19" "7267746" "7267746" "subst" "0.00174268" "01804" "INSR_000074" "g.7267746A>G" "" "" "" "INSR(NM_000208.2):c.262T>C (p.(Leu88=)), INSR(NM_000208.3):c.262T>C (p.L88=), INSR(NM_000208.4):c.262T>C (p.L88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7267735A>G" "" "benign" "" "0000568765" "0" "30" "19" "7267891" "7267891" "subst" "0" "01943" "INSR_000076" "g.7267891A>G" "" "" "" "INSR(NM_000208.3):c.117T>C (p.D39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7267880A>G" "" "likely benign" "" "0000568766" "0" "30" "19" "7293813" "7293813" "subst" "0" "01943" "INSR_000077" "g.7293813G>A" "" "" "" "INSR(NM_000208.3):c.90C>T (p.Y30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7293802G>A" "" "likely benign" "" "0000568768" "0" "30" "19" "7293878" "7293878" "subst" "0" "01804" "INSR_000079" "g.7293878C>G" "" "" "" "INSR(NM_000208.2):c.25G>C (p.(Ala9Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7293867C>G" "" "likely benign" "" "0000617932" "0" "30" "19" "7184350" "7184350" "subst" "1.21936E-5" "01943" "INSR_000054" "g.7184350G>A" "" "" "" "INSR(NM_000208.2):c.951C>T (p.(Ser317=)), INSR(NM_000208.3):c.951C>T (p.S317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7184339G>A" "" "likely benign" "" "0000617933" "0" "30" "19" "7184671" "7184672" "dup" "0" "01804" "INSR_000067" "g.7184671_7184672dup" "" "" "" "INSR(NM_000208.2):c.653-4_653-3insTC (p.?), INSR(NM_000208.3):c.653-5_653-4dupTC, INSR(NM_000208.4):c.653-5_653-4dupTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7184660_7184661dup" "" "likely benign" "" "0000617934" "0" "30" "19" "7293864" "7293864" "subst" "0.000845451" "01943" "INSR_000080" "g.7293864C>G" "" "" "" "INSR(NM_000208.3):c.39G>C (p.P13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7293853C>G" "" "likely benign" "" "0000624102" "0" "30" "19" "7184671" "7184672" "dup" "0" "02326" "INSR_000067" "g.7184671_7184672dup" "" "" "" "INSR(NM_000208.2):c.653-4_653-3insTC (p.?), INSR(NM_000208.3):c.653-5_653-4dupTC, INSR(NM_000208.4):c.653-5_653-4dupTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7184660_7184661dup" "" "likely benign" "" "0000631890" "0" "50" "19" "7150520" "7150521" "delins" "0" "00006" "INSR_000081" "g.7150520_7150521delinsAA" "" "{DOI:Wakeling 2020:10.12688/wellcomeopenres.15420.2}" "" "[2254G>T];[2255C>T]" "variant called as c.2254G>T (Ala752Ser) and c.2255C>T (Ala752Val)" "Germline" "" "" "0" "" "" "g.7150509_7150510delinsAA" "" "VUS" "" "0000631891" "0" "50" "19" "7150521" "7150521" "subst" "0" "00006" "INSR_000082" "g.7150521C>A" "" "{DOI:Wakeling 2020:10.12688/wellcomeopenres.15420.2}" "" "[2254G>T];[2255C>T]" "correct is two flanking variants on one allele (c.2254_2255delinsTT)" "Artefact" "" "" "0" "" "" "g.7150510C>A" "" "NA" "" "0000631892" "0" "50" "19" "7150520" "7150520" "subst" "0" "00006" "INSR_000083" "g.7150520G>A" "" "{DOI:Wakeling 2020:10.12688/wellcomeopenres.15420.2}" "" "[2254G>T];[2255C>T]" "correct is two flanking variants on one allele (c.2254_2255delinsTT)" "Artefact" "" "" "0" "" "" "g.7150509G>A" "" "NA" "" "0000650062" "1" "30" "19" "7116843" "7116843" "subst" "0" "03575" "INSR_000084" "g.7116843G>A" "26/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "26 heterozygous, no homozygous; {DB:CLININrs2860171}" "Germline" "" "rs2860171" "0" "" "" "g.7116832G>A" "" "likely benign" "" "0000650063" "1" "30" "19" "7117134" "7117134" "subst" "3.24915E-5" "03575" "INSR_000085" "g.7117134T>C" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs13306449}" "Germline" "" "rs13306449" "0" "" "" "g.7117123T>C" "" "likely benign" "" "0000650064" "1" "50" "19" "7125518" "7125518" "subst" "0.00847919" "03575" "INSR_000023" "g.7125518C>T" "120/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 120 heterozygous; {DB:CLININrs1799816}" "Germline" "" "rs1799816" "0" "" "" "g.7125507C>T" "" "VUS" "" "0000669495" "3" "50" "19" "7125518" "7125518" "subst" "0.00847919" "03575" "INSR_000023" "g.7125518C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 homozygous; {DB:CLININrs1799816}" "Germline" "" "rs1799816" "0" "" "" "g.7125507C>T" "" "VUS" "" "0000681541" "0" "30" "19" "7141795" "7141795" "subst" "0.00032081" "01943" "INSR_000034" "g.7141795G>A" "" "" "" "INSR(NM_000208.2):c.2575C>T (p.(His859Tyr)), INSR(NM_000208.3):c.2575C>T (p.H859Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692909" "0" "50" "19" "7117083" "7117083" "subst" "0.000341217" "02325" "INSR_000086" "g.7117083C>T" "" "" "" "INSR(NM_000208.4):c.4133G>A (p.R1378Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692910" "0" "30" "19" "7150532" "7150532" "subst" "0.000800644" "02326" "INSR_000006" "g.7150532G>A" "" "" "" "INSR(NM_000208.2):c.2243C>T (p.(Ser748Leu)), INSR(NM_000208.3):c.2243C>T (p.S748L), INSR(NM_000208.4):c.2243C>T (p.S748L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727569" "0" "50" "19" "7117188" "7117188" "subst" "6.09786E-5" "02325" "INSR_000087" "g.7117188C>T" "" "" "" "INSR(NM_000208.4):c.4028G>A (p.R1343Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727570" "0" "50" "19" "7126639" "7126639" "subst" "0" "01943" "INSR_000088" "g.7126639G>A" "" "" "" "INSR(NM_000208.3):c.2969C>T (p.P990L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727571" "0" "50" "19" "7184522" "7184522" "subst" "4.06736E-6" "02325" "INSR_000089" "g.7184522A>C" "" "" "" "INSR(NM_000208.2):c.779T>G (p.(Leu260Arg)), INSR(NM_000208.4):c.779T>G (p.L260R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727572" "0" "50" "19" "7293819" "7293819" "subst" "0" "02329" "INSR_000078" "g.7293819G>T" "" "" "" "INSR(NM_000208.2):c.84C>A (p.(His28Gln)), INSR(NM_000208.3):c.84C>A (p.H28Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000760921" "11" "70" "19" "7122904" "7122904" "subst" "0" "01482" "INSR_000092" "g.7122904G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000760922" "21" "90" "19" "7184553" "7184555" "del" "0" "01482" "INSR_000093" "g.7184553_7184555del" "" "" "" "749_751delCCA" "" "Germline" "" "" "0" "" "" "g.7184542_7184544del" "" "VUS" "ACMG" "0000760923" "0" "10" "19" "7119584" "7119584" "subst" "2.03087E-5" "01482" "INSR_000090" "g.7119584C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "ACMG" "0000760924" "21" "90" "19" "7120676" "7120676" "subst" "0" "01482" "INSR_000091" "g.7120676G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000760925" "11" "10" "19" "7119584" "7119584" "subst" "2.03087E-5" "01482" "INSR_000090" "g.7119584C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "ACMG" "0000760926" "21" "70" "19" "7120676" "7120676" "subst" "0" "01482" "INSR_000091" "g.7120676G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000809090" "0" "30" "19" "7117184" "7117184" "subst" "4.06491E-6" "02326" "INSR_000094" "g.7117184A>G" "" "" "" "INSR(NM_000208.4):c.4032T>C (p.D1344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809091" "0" "50" "19" "7125374" "7125374" "subst" "0" "02327" "INSR_000095" "g.7125374T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809092" "0" "30" "19" "7126638" "7126638" "subst" "0.000368438" "02326" "INSR_000026" "g.7126638C>T" "" "" "" "INSR(NM_000208.2):c.2970G>A (p.(Pro990=)), INSR(NM_000208.4):c.2970G>A (p.P990=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809093" "0" "30" "19" "7132314" "7132314" "subst" "0.000147118" "02326" "INSR_000096" "g.7132314G>A" "" "" "" "INSR(NM_000208.4):c.2697C>T (p.C899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809094" "0" "30" "19" "7141826" "7141826" "subst" "0" "01943" "INSR_000097" "g.7141826G>A" "" "" "" "INSR(NM_000208.3):c.2544C>T (p.A848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809095" "0" "50" "19" "7142844" "7142844" "subst" "0" "02325" "INSR_000098" "g.7142844G>C" "" "" "" "INSR(NM_000208.4):c.2525C>G (p.A842G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809096" "0" "30" "19" "7184413" "7184413" "subst" "0.000580758" "02326" "INSR_000099" "g.7184413C>T" "" "" "" "INSR(NM_000208.2):c.888G>A (p.(Ser296=)), INSR(NM_000208.4):c.888G>A (p.S296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809097" "0" "30" "19" "7184669" "7184672" "dup" "0" "01804" "INSR_000066" "g.7184669_7184672dup" "" "" "" "INSR(NM_000208.2):c.653-4_653-3insTCTC (p.?), INSR(NM_000208.3):c.653-7_653-4dupTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855731" "0" "30" "19" "7174637" "7174637" "subst" "0.00183198" "02326" "INSR_000051" "g.7174637G>A" "" "" "" "INSR(NM_000208.2):c.1080C>T (p.(Cys360=)), INSR(NM_000208.4):c.1080C>T (p.C360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866294" "0" "50" "19" "7117173" "7117173" "subst" "4.06577E-6" "01804" "INSR_000100" "g.7117173G>A" "" "" "" "INSR(NM_000208.2):c.4043C>T (p.(Ser1348Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866295" "0" "50" "19" "7117217" "7117217" "subst" "1.62472E-5" "01804" "INSR_000101" "g.7117217C>T" "" "" "" "INSR(NM_000208.2):c.3999G>A (p.(Ser1333=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866296" "0" "30" "19" "7117240" "7117240" "subst" "0" "01804" "INSR_000102" "g.7117240T>G" "" "" "" "INSR(NM_000208.2):c.3976A>C (p.(Asn1326His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866297" "0" "30" "19" "7119585" "7119585" "subst" "2.84414E-5" "01804" "INSR_000103" "g.7119585G>A" "" "" "" "INSR(NM_000208.2):c.3669C>T (p.(Gly1223=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866298" "0" "30" "19" "7120775" "7120775" "subst" "8.94774E-5" "01804" "INSR_000104" "g.7120775G>T" "" "" "" "INSR(NM_000208.2):c.3530-15C>A (p.(=)), INSR(NM_000208.4):c.3530-15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866299" "0" "50" "19" "7125395" "7125395" "subst" "4.0627E-6" "01943" "INSR_000105" "g.7125395G>A" "" "" "" "INSR(NM_000208.3):c.3157C>T (p.R1053C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866300" "0" "30" "19" "7126637" "7126637" "subst" "0.000455916" "01804" "INSR_000106" "g.7126637G>T" "" "" "" "INSR(NM_000208.2):c.2971C>A (p.(Leu991Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866301" "0" "30" "19" "7128931" "7128931" "subst" "2.84303E-5" "01804" "INSR_000107" "g.7128931G>A" "" "" "" "INSR(NM_000208.2):c.2877C>T (p.(Ile959=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866302" "0" "30" "19" "7132245" "7132245" "subst" "0.000101553" "01804" "INSR_000004" "g.7132245G>A" "" "" "" "INSR(NM_000208.2):c.2766C>T (p.(Ser922=)), INSR(NM_000208.3):c.2766C>T (p.S922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866303" "0" "30" "19" "7132257" "7132257" "subst" "6.50169E-5" "01804" "INSR_000108" "g.7132257C>T" "" "" "" "INSR(NM_000208.2):c.2754G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866304" "0" "30" "19" "7132293" "7132293" "subst" "0.0020096" "01804" "INSR_000109" "g.7132293A>G" "" "" "" "INSR(NM_000208.2):c.2718T>C (p.(Ala906=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866305" "0" "50" "19" "7141693" "7141693" "subst" "7.71599E-5" "01804" "INSR_000110" "g.7141693C>T" "" "" "" "INSR(NM_000208.2):c.2677G>A (p.(Asp893Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866306" "0" "50" "19" "7141797" "7141797" "subst" "0.000166493" "01804" "INSR_000111" "g.7141797G>A" "" "" "" "INSR(NM_000208.2):c.2573C>T (p.(Thr858Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866307" "0" "50" "19" "7141821" "7141821" "subst" "0" "01804" "INSR_000112" "g.7141821G>C" "" "" "" "INSR(NM_000208.2):c.2549C>G (p.(Ala850Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866308" "0" "30" "19" "7141827" "7141827" "subst" "2.03168E-5" "01804" "INSR_000113" "g.7141827G>A" "" "" "" "INSR(NM_000208.2):c.2543C>T (p.(Ala848Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866309" "0" "30" "19" "7142811" "7142811" "subst" "8.22145E-6" "01804" "INSR_000114" "g.7142811G>A" "" "" "" "INSR(NM_000208.2):c.2542+16C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866310" "0" "30" "19" "7142999" "7142999" "subst" "0.0032984" "01804" "INSR_000115" "g.7142999C>T" "" "" "" "INSR(NM_000208.2):c.2370G>A (p.(Thr790=)), INSR(NM_000208.4):c.2370G>A (p.T790=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866311" "0" "30" "19" "7143014" "7143014" "subst" "0.000584938" "01804" "INSR_000116" "g.7143014C>T" "" "" "" "INSR(NM_000208.2):c.2355G>A (p.(Ser785=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866312" "0" "30" "19" "7143038" "7143038" "subst" "1.62495E-5" "01804" "INSR_000117" "g.7143038C>T" "" "" "" "INSR(NM_000208.2):c.2331G>A (p.(Val777=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866313" "0" "50" "19" "7152776" "7152776" "subst" "0" "01804" "INSR_000118" "g.7152776G>A" "" "" "" "INSR(NM_000208.2):c.2192C>T (p.(Thr731Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866314" "0" "30" "19" "7163188" "7163188" "subst" "1.21822E-5" "01804" "INSR_000119" "g.7163188T>C" "" "" "" "INSR(NM_000208.2):c.1884A>G (p.(Pro628=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866315" "0" "50" "19" "7166219" "7166219" "subst" "4.06085E-6" "01804" "INSR_000120" "g.7166219G>A" "" "" "" "INSR(NM_000208.2):c.1807C>T (p.(Arg603Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866316" "0" "50" "19" "7166227" "7166227" "subst" "5.68533E-5" "01804" "INSR_000121" "g.7166227G>A" "" "" "" "INSR(NM_000208.2):c.1799C>T (p.(Ser600Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866317" "0" "50" "19" "7166414" "7166414" "subst" "0" "01804" "INSR_000122" "g.7166414G>T" "" "" "" "INSR(NM_000208.2):c.1612C>A (p.(Pro538Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866318" "0" "50" "19" "7168039" "7168039" "subst" "0.000121844" "01804" "INSR_000123" "g.7168039T>C" "" "" "" "INSR(NM_000208.2):c.1550A>G (p.(Glu517Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866319" "0" "50" "19" "7170545" "7170545" "subst" "8.1324E-6" "01804" "INSR_000124" "g.7170545T>G" "" "" "" "INSR(NM_000208.2):c.1483+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866320" "0" "30" "19" "7172378" "7172378" "subst" "0.000300556" "01804" "INSR_000125" "g.7172378G>A" "" "" "" "INSR(NM_000208.2):c.1191C>T (p.(Ile397=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866321" "0" "30" "19" "7174666" "7174666" "subst" "0" "01804" "INSR_000126" "g.7174666C>T" "" "" "" "INSR(NM_000208.2):c.1051G>A (p.(Val351Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866322" "0" "30" "19" "7174675" "7174675" "subst" "0" "01804" "INSR_000127" "g.7174675T>G" "" "" "" "INSR(NM_000208.2):c.1042A>C (p.(Ile348Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866323" "0" "30" "19" "7174765" "7174768" "del" "0" "01804" "INSR_000128" "g.7174765_7174768del" "" "" "" "INSR(NM_000208.2):c.975-17_975-14del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866324" "0" "30" "19" "7184342" "7184342" "subst" "0.000191132" "01804" "INSR_000129" "g.7184342G>A" "" "" "" "INSR(NM_000208.2):c.959C>T (p.(Thr320Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866325" "0" "30" "19" "7184420" "7184420" "subst" "0.000194941" "01804" "INSR_000056" "g.7184420T>C" "" "" "" "INSR(NM_000208.2):c.881A>G (p.(Lys294Arg)), INSR(NM_000208.3):c.881A>G (p.K294R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866326" "0" "30" "19" "7184431" "7184431" "subst" "0.000893459" "01804" "INSR_000057" "g.7184431G>A" "" "" "" "INSR(NM_000208.2):c.870C>T (p.(His290=)), INSR(NM_000208.3):c.870C>T (p.H290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866327" "0" "30" "19" "7184544" "7184544" "subst" "0" "01804" "INSR_000130" "g.7184544C>T" "" "" "" "INSR(NM_000208.2):c.757G>A (p.(Val253Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866328" "0" "30" "19" "7184563" "7184563" "subst" "2.45694E-5" "01804" "INSR_000131" "g.7184563G>A" "" "" "" "INSR(NM_000208.2):c.738C>T (p.(Pro246=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866329" "0" "30" "19" "7184575" "7184575" "subst" "8.18934E-6" "01804" "INSR_000132" "g.7184575G>A" "" "" "" "INSR(NM_000208.2):c.726C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866330" "0" "30" "19" "7184614" "7184614" "subst" "0.000480121" "01804" "INSR_000133" "g.7184614G>A" "" "" "" "INSR(NM_000208.2):c.687C>T (p.(Thr229=)), INSR(NM_000208.4):c.687C>T (p.T229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866331" "0" "30" "19" "7184653" "7184672" "dup" "0" "01804" "INSR_000134" "g.7184653_7184672dup" "" "" "" "INSR(NM_000208.2):c.653-23_653-4dup (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866332" "0" "30" "19" "7184661" "7184672" "dup" "0" "01804" "INSR_000135" "g.7184661_7184672dup" "" "" "" "INSR(NM_000208.2):c.653-15_653-4dup (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866333" "0" "30" "19" "7184663" "7184672" "dup" "0" "01804" "INSR_000136" "g.7184663_7184672dup" "" "" "" "INSR(NM_000208.2):c.653-13_653-4dup (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866334" "0" "30" "19" "7184665" "7184672" "dup" "0" "01804" "INSR_000137" "g.7184665_7184672dup" "" "" "" "INSR(NM_000208.2):c.653-11_653-4dup (p.?), INSR(NM_000208.4):c.653-13_653-6dupTCTCTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866335" "0" "30" "19" "7184669" "7184672" "del" "0" "01804" "INSR_000138" "g.7184669_7184672del" "" "" "" "INSR(NM_000208.2):c.653-7_653-4del (p.?), INSR(NM_000208.4):c.653-7_653-4delTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866336" "0" "30" "19" "7267337" "7267337" "subst" "4.06488E-5" "01804" "INSR_000139" "g.7267337C>A" "" "" "" "INSR(NM_000208.2):c.652+19G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866337" "0" "30" "19" "7267455" "7267455" "subst" "3.24868E-5" "01804" "INSR_000140" "g.7267455T>C" "" "" "" "INSR(NM_000208.2):c.553A>G (p.(Ile185Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866338" "0" "30" "19" "7267523" "7267523" "subst" "0" "01804" "INSR_000141" "g.7267523C>T" "" "" "" "INSR(NM_000208.2):c.485G>A (p.(Arg162His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866339" "0" "70" "19" "7267542" "7267542" "subst" "4.06134E-6" "01804" "INSR_000142" "g.7267542C>T" "" "" "" "INSR(NM_000208.2):c.466G>A (p.(Ala156Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000866340" "0" "70" "19" "7267545" "7267546" "ins" "0" "01804" "INSR_000143" "g.7267545_7267546insCATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAG" "" "" "" "INSR(NM_000208.2):c.462_463insCTTTATCCCCGTAAATTATCTCCTGAAGATCTTCTATG (p.(Ala156Tyrfs*32))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000866341" "0" "70" "19" "7267547" "7267548" "ins" "0" "01804" "INSR_000144" "g.7267547_7267548insGCCCGCGGTCAGAAATGGGGC" "" "" "" "INSR(NM_000208.2):c.460_461insGCCCCATTTCTGACCGCGGGC (p.(Tyr154delinsCysProIleSerAspArgGlyHis))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000866342" "0" "30" "19" "7293819" "7293819" "subst" "0" "01804" "INSR_000078" "g.7293819G>T" "" "" "" "INSR(NM_000208.2):c.84C>A (p.(His28Gln)), INSR(NM_000208.3):c.84C>A (p.H28Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866343" "0" "30" "19" "7293862" "7293862" "subst" "0.000239578" "01804" "INSR_000145" "g.7293862A>G" "" "" "" "INSR(NM_000208.2):c.41T>C (p.(Leu14Pro)), INSR(NM_000208.4):c.41T>C (p.L14P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866344" "0" "30" "19" "7293863" "7293864" "ins" "0" "01804" "INSR_000146" "g.7293863_7293864insGGG" "" "" "" "INSR(NM_000208.2):c.40_41insCCC (p.(Pro13dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866345" "0" "30" "19" "7293865" "7293866" "ins" "0" "01804" "INSR_000147" "g.7293865_7293866insCGGCCACCGCCACCAGCAGGG" "" "" "" "INSR(NM_000208.2):c.38_39insCCTGCTGGTGGCGGTGGCCGC (p.(Val16_Leu22dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866346" "0" "30" "19" "7293891" "7293891" "subst" "0" "01804" "INSR_000148" "g.7293891C>A" "" "" "" "INSR(NM_000208.2):c.12G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895173" "0" "30" "19" "7120675" "7120675" "subst" "0.000146187" "01804" "INSR_000149" "g.7120675C>T" "" "" "" "INSR(NM_000208.2):c.3615G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895174" "0" "70" "19" "7122684" "7122684" "subst" "0" "01804" "INSR_000150" "g.7122684T>C" "" "" "" "INSR(NM_000208.2):c.3470A>G (p.(His1157Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895175" "0" "30" "19" "7125278" "7125278" "subst" "0.000307261" "02326" "INSR_000017" "g.7125278C>T" "" "" "" "INSR(NM_000208.2):c.3258+16G>A (p.(=)), INSR(NM_000208.4):c.3258+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895176" "0" "30" "19" "7132347" "7132349" "del" "0" "01804" "INSR_000151" "g.7132347_7132349del" "" "" "" "INSR(NM_000208.2):c.2683-15_2683-13del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895177" "0" "30" "19" "7141679" "7141679" "subst" "0.00247382" "02326" "INSR_000031" "g.7141679G>C" "" "" "" "INSR(NM_000208.2):c.2682+9C>G (p.(=)), INSR(NM_000208.4):c.2682+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895178" "0" "10" "19" "7141727" "7141727" "subst" "0.0111018" "02326" "INSR_000032" "g.7141727G>A" "" "" "" "INSR(NM_000208.2):c.2643C>T (p.(Ile881=)), INSR(NM_000208.4):c.2643C>T (p.I881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895179" "0" "30" "19" "7142909" "7142909" "subst" "2.03245E-5" "01804" "INSR_000152" "g.7142909G>A" "" "" "" "INSR(NM_000208.2):c.2460C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895180" "0" "10" "19" "7142999" "7142999" "subst" "0.0032984" "02326" "INSR_000115" "g.7142999C>T" "" "" "" "INSR(NM_000208.2):c.2370G>A (p.(Thr790=)), INSR(NM_000208.4):c.2370G>A (p.T790=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895181" "0" "30" "19" "7143074" "7143074" "subst" "0.000776606" "02326" "INSR_000005" "g.7143074G>A" "" "" "" "INSR(NM_000208.2):c.2295C>T (p.(Gly765=)), INSR(NM_000208.3):c.2295C>T (p.G765=), INSR(NM_000208.4):c.2295C>T (p.G765=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895182" "0" "50" "19" "7152762" "7152762" "subst" "0" "01804" "INSR_000153" "g.7152762G>C" "" "" "" "INSR(NM_000208.2):c.2206C>G (p.(Leu736Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895183" "0" "50" "19" "7172439" "7172439" "subst" "0" "01804" "INSR_000154" "g.7172439A>G" "" "" "" "INSR(NM_000208.2):c.1130T>C (p.(Leu377Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895184" "0" "30" "19" "7184672" "7184673" "ins" "0" "01804" "INSR_000155" "g.7184672_7184673insAGAGAGAGAGAGAGAGAGAGAG" "" "" "" "INSR(NM_000208.2):c.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895185" "0" "30" "19" "7267519" "7267519" "subst" "0.000986826" "01804" "INSR_000156" "g.7267519G>T" "" "" "" "INSR(NM_000208.2):c.489C>A (p.(Ile163=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895186" "0" "30" "19" "7267784" "7267784" "subst" "9.75039E-5" "01804" "INSR_000157" "g.7267784T>C" "" "" "" "INSR(NM_000208.2):c.224A>G (p.(Asp75Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895187" "0" "30" "19" "7293862" "7293862" "subst" "0.000239578" "02326" "INSR_000145" "g.7293862A>G" "" "" "" "INSR(NM_000208.2):c.41T>C (p.(Leu14Pro)), INSR(NM_000208.4):c.41T>C (p.L14P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915309" "0" "30" "19" "7117196" "7117196" "subst" "4.06441E-6" "01804" "INSR_000158" "g.7117196C>T" "" "" "" "INSR(NM_000208.2):c.4020G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915310" "0" "50" "19" "7120730" "7120730" "subst" "4.06072E-5" "01804" "INSR_000159" "g.7120730G>A" "" "" "" "INSR(NM_000208.2):c.3560C>T (p.(Thr1187Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915311" "0" "30" "19" "7122935" "7122935" "subst" "3.7912E-5" "02326" "INSR_000016" "g.7122935G>A" "" "" "" "INSR(NM_000208.3):c.3324C>T (p.H1108=), INSR(NM_000208.4):c.3324C>T (p.H1108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915312" "0" "50" "19" "7125430" "7125430" "subst" "0" "02325" "INSR_000160" "g.7125430T>C" "" "" "" "INSR(NM_000208.4):c.3122A>G (p.N1041S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915313" "0" "30" "19" "7132270" "7132270" "subst" "4.06435E-6" "02326" "INSR_000161" "g.7132270C>T" "" "" "" "INSR(NM_000208.4):c.2741G>A (p.R914H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915314" "0" "50" "19" "7132313" "7132313" "subst" "5.30846E-5" "01804" "INSR_000162" "g.7132313C>T" "" "" "" "INSR(NM_000208.2):c.2698G>A (p.(Val900Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915315" "0" "30" "19" "7142993" "7142993" "subst" "1.62492E-5" "01804" "INSR_000163" "g.7142993C>T" "" "" "" "INSR(NM_000208.2):c.2376G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915316" "0" "10" "19" "7163083" "7163083" "subst" "0.00243639" "02326" "INSR_000047" "g.7163083C>T" "" "" "" "INSR(NM_000208.2):c.1989G>A (p.(Ala663=)), INSR(NM_000208.4):c.1989G>A (p.A663=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915317" "0" "10" "19" "7163140" "7163140" "subst" "0.0985349" "02325" "INSR_000164" "g.7163140T>G" "" "" "" "INSR(NM_000208.4):c.1932A>C (p.P644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915318" "0" "10" "19" "7163154" "7163154" "subst" "0.0985145" "02325" "INSR_000165" "g.7163154G>A" "" "" "" "INSR(NM_000208.4):c.1918C>T (p.L640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915319" "0" "10" "19" "7163214" "7163214" "subst" "0.0984352" "02325" "INSR_000166" "g.7163214T>C" "" "" "" "INSR(NM_000208.4):c.1862-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915320" "0" "10" "19" "7163230" "7163230" "subst" "0.223642" "02325" "INSR_000167" "g.7163230T>C" "" "" "" "INSR(NM_000208.4):c.1862-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915321" "0" "10" "19" "7166388" "7166388" "subst" "0.196743" "02325" "INSR_000168" "g.7166388G>A" "" "" "" "INSR(NM_000208.4):c.1638C>T (p.D546=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915322" "0" "10" "19" "7184665" "7184672" "dup" "0" "02326" "INSR_000137" "g.7184665_7184672dup" "" "" "" "INSR(NM_000208.2):c.653-11_653-4dup (p.?), INSR(NM_000208.4):c.653-13_653-6dupTCTCTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915323" "0" "30" "19" "7184669" "7184672" "del" "0" "02326" "INSR_000138" "g.7184669_7184672del" "" "" "" "INSR(NM_000208.2):c.653-7_653-4del (p.?), INSR(NM_000208.4):c.653-7_653-4delTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915324" "0" "10" "19" "7293898" "7293898" "subst" "1" "02325" "INSR_000169" "g.7293898G>C" "" "" "" "INSR(NM_000208.4):c.5C>G (p.A2G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926954" "0" "50" "19" "7125392" "7125392" "subst" "4.06233E-6" "01804" "INSR_000170" "g.7125392C>T" "" "" "" "INSR(NM_000208.2):c.3160G>A (p.(Val1054Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926955" "0" "30" "19" "7132218" "7132218" "subst" "0.00018684" "01804" "INSR_000171" "g.7132218C>T" "" "" "" "INSR(NM_000208.2):c.2793G>A (p.(Ala931=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926956" "0" "30" "19" "7132275" "7132275" "subst" "0.000325174" "01804" "INSR_000172" "g.7132275C>T" "" "" "" "INSR(NM_000208.2):c.2736G>A (p.(Arg912=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926957" "0" "10" "19" "7132333" "7132333" "subst" "0.00176476" "02326" "INSR_000030" "g.7132333G>A" "" "" "" "INSR(NM_000208.2):c.2683-5C>T (p.?), INSR(NM_000208.3):c.2683-5C>T, INSR(NM_000208.4):c.2683-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926958" "0" "30" "19" "7141705" "7141705" "subst" "0.000186793" "01804" "INSR_000173" "g.7141705G>A" "" "" "" "INSR(NM_000208.2):c.2665C>T (p.(Arg889Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926959" "0" "50" "19" "7152867" "7152867" "subst" "4.062E-5" "01804" "INSR_000174" "g.7152867C>T" "" "" "" "INSR(NM_000208.2):c.2101G>A (p.(Glu701Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926960" "0" "30" "19" "7184560" "7184560" "subst" "2.04779E-5" "02326" "INSR_000175" "g.7184560G>A" "" "" "" "INSR(NM_000208.4):c.741C>T (p.D247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926961" "0" "30" "19" "7267390" "7267390" "subst" "0.00209975" "02326" "INSR_000069" "g.7267390G>A" "" "" "" "INSR(NM_000208.2):c.618C>T (p.(Val206=)), INSR(NM_000208.4):c.618C>T (p.V206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931122" "0" "50" "19" "7117335" "7117335" "subst" "0" "01804" "INSR_000176" "g.7117335A>G" "" "" "" "INSR(NM_000208.2):c.3881T>C (p.(Leu1294Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931123" "0" "30" "19" "7120775" "7120775" "subst" "8.94774E-5" "02326" "INSR_000104" "g.7120775G>T" "" "" "" "INSR(NM_000208.2):c.3530-15C>A (p.(=)), INSR(NM_000208.4):c.3530-15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931124" "0" "30" "19" "7125394" "7125394" "subst" "4.87484E-5" "02326" "INSR_000019" "g.7125394C>T" "" "" "" "INSR(NM_000208.2):c.3158G>A (p.(Arg1053His)), INSR(NM_000208.4):c.3158G>A (p.R1053H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931125" "0" "30" "19" "7150558" "7150558" "subst" "0" "01804" "INSR_000177" "g.7150558C>T" "" "" "" "INSR(NM_000208.2):c.2232-15G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931126" "0" "30" "19" "7152887" "7152887" "subst" "2.43784E-5" "01804" "INSR_000178" "g.7152887G>A" "" "" "" "INSR(NM_000208.2):c.2081C>T (p.(Ser694Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931127" "0" "90" "19" "7172374" "7172374" "subst" "8.12295E-6" "01804" "INSR_000179" "g.7172374G>A" "" "" "" "INSR(NM_000208.2):c.1195C>T (p.(Arg399Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931128" "0" "30" "19" "7174625" "7174625" "subst" "5.28073E-5" "02326" "INSR_000180" "g.7174625G>A" "" "" "" "INSR(NM_000208.4):c.1092C>T (p.N364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931129" "0" "30" "19" "7184341" "7184341" "subst" "2.44021E-5" "01804" "INSR_000181" "g.7184341C>T" "" "" "" "INSR(NM_000208.2):c.960G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000943926" "0" "50" "19" "7184414" "7184414" "subst" "0" "03779" "INSR_000182" "g.7184414G>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000951370" "0" "30" "19" "7117262" "7117262" "subst" "0" "01804" "INSR_000183" "g.7117262C>T" "" "" "" "INSR(NM_000208.2):c.3954G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951371" "0" "30" "19" "7152851" "7152851" "subst" "0.000109671" "02326" "INSR_000045" "g.7152851G>T" "" "" "" "INSR(NM_000208.2):c.2117C>A (p.(Ala706Asp)), INSR(NM_000208.4):c.2117C>A (p.A706D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951372" "0" "30" "19" "7170618" "7170618" "subst" "0" "01804" "INSR_000184" "g.7170618T>C" "" "" "" "INSR(NM_000208.2):c.1413A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951373" "0" "30" "19" "7172366" "7172366" "subst" "0.000142152" "01804" "INSR_000185" "g.7172366G>A" "" "" "" "INSR(NM_000208.2):c.1203C>T (p.(Tyr401=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951374" "0" "50" "19" "7174644" "7174644" "subst" "2.03115E-5" "01804" "INSR_000186" "g.7174644C>T" "" "" "" "INSR(NM_000208.2):c.1073G>A (p.(Arg358Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951375" "0" "30" "19" "7184641" "7184641" "subst" "0" "01804" "INSR_000187" "g.7184641C>A" "" "" "" "INSR(NM_000208.2):c.660G>T (p.(Pro220=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951376" "0" "50" "19" "7267577" "7267577" "subst" "0" "01804" "INSR_000188" "g.7267577A>T" "" "" "" "INSR(NM_000208.2):c.431T>A (p.(Val144Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951377" "0" "30" "19" "7267746" "7267746" "subst" "0.00174268" "02326" "INSR_000074" "g.7267746A>G" "" "" "" "INSR(NM_000208.2):c.262T>C (p.(Leu88=)), INSR(NM_000208.3):c.262T>C (p.L88=), INSR(NM_000208.4):c.262T>C (p.L88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970033" "0" "50" "19" "7119460" "7119460" "subst" "0" "02325" "INSR_000189" "g.7119460A>G" "" "" "" "INSR(NM_000208.4):c.3794T>C (p.V1265A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970034" "0" "30" "19" "7150530" "7150530" "subst" "0.000162558" "01804" "INSR_000190" "g.7150530C>T" "" "" "" "INSR(NM_000208.2):c.2245G>A (p.(Gly749Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970035" "0" "30" "19" "7184413" "7184413" "subst" "0.000580758" "01804" "INSR_000099" "g.7184413C>T" "" "" "" "INSR(NM_000208.2):c.888G>A (p.(Ser296=)), INSR(NM_000208.4):c.888G>A (p.S296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970036" "0" "30" "19" "7184614" "7184614" "subst" "0.000480121" "02326" "INSR_000133" "g.7184614G>A" "" "" "" "INSR(NM_000208.2):c.687C>T (p.(Thr229=)), INSR(NM_000208.4):c.687C>T (p.T229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983696" "0" "50" "19" "7172418" "7172418" "subst" "4.06223E-6" "01804" "INSR_000191" "g.7172418T>C" "" "" "" "INSR(NM_000208.2):c.1151A>G (p.(Asn384Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005206" "0" "50" "19" "7117384" "7117384" "subst" "0" "02325" "INSR_000192" "g.7117384T>C" "" "" "" "INSR(NM_000208.4):c.3832A>G (p.K1278E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005207" "0" "30" "19" "7123020" "7123020" "subst" "5.48312E-6" "01804" "INSR_000193" "g.7123020G>T" "" "" "" "INSR(NM_000208.2):c.3259-20C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005208" "0" "50" "19" "7128930" "7128930" "subst" "1.62452E-5" "01804" "INSR_000194" "g.7128930C>T" "" "" "" "INSR(NM_000208.2):c.2878G>A (p.(Gly960Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005209" "0" "50" "19" "7132200" "7132200" "subst" "1.2186E-5" "01804" "INSR_000195" "g.7132200C>T" "" "" "" "INSR(NM_000208.2):c.2811G>A (p.(Thr937=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005210" "0" "90" "19" "7142932" "7142932" "subst" "8.12988E-6" "01804" "INSR_000196" "g.7142932G>A" "" "" "" "INSR(NM_000208.2):c.2437C>T (p.(Arg813Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001005211" "0" "50" "19" "7184522" "7184522" "subst" "4.06736E-6" "01804" "INSR_000089" "g.7184522A>C" "" "" "" "INSR(NM_000208.2):c.779T>G (p.(Leu260Arg)), INSR(NM_000208.4):c.779T>G (p.L260R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005212" "0" "50" "19" "7267351" "7267351" "subst" "0" "01804" "INSR_000197" "g.7267351C>T" "" "" "" "INSR(NM_000208.2):c.652+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015840" "0" "50" "19" "7120635" "7120635" "subst" "1.21828E-5" "01804" "INSR_000198" "g.7120635T>C" "" "" "" "INSR(NM_000208.2):c.3655A>G (p.(Met1219Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015841" "0" "50" "19" "7126648" "7126648" "subst" "0" "02325" "INSR_000199" "g.7126648G>A" "" "" "" "INSR(NM_000208.4):c.2960C>T (p.P987L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015842" "0" "50" "19" "7143042" "7143042" "subst" "2.43744E-5" "01804" "INSR_000200" "g.7143042G>A" "" "" "" "INSR(NM_000208.2):c.2327C>T (p.(Thr776Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015843" "0" "30" "19" "7172390" "7172390" "subst" "6.49846E-5" "01804" "INSR_000201" "g.7172390C>T" "" "" "" "INSR(NM_000208.2):c.1179G>A (p.(Gly393=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015844" "0" "90" "19" "7267909" "7267909" "subst" "0" "02325" "INSR_000202" "g.7267909T>G" "" "" "" "INSR(NM_000208.4):c.101-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001027280" "0" "50" "19" "7117206" "7117209" "del" "0" "01804" "INSR_000203" "g.7117206_7117209del" "" "" "" "INSR(NM_000208.2):c.4007_4010del (p.(Gln1336ArgfsTer28))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027281" "0" "50" "19" "7117227" "7117227" "subst" "0" "01804" "INSR_000204" "g.7117227T>C" "" "" "" "INSR(NM_000208.2):c.3989A>G (p.(Asp1330Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027282" "0" "10" "19" "7125518" "7125518" "subst" "0.00847919" "02327" "INSR_000023" "g.7125518C>T" "" "" "" "INSR(NM_000208.2):c.3034G>A (p.(Val1012Met)), INSR(NM_000208.4):c.3034G>A (p.V1012M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001027283" "0" "30" "19" "7152775" "7152775" "subst" "0.00373562" "02327" "INSR_000044" "g.7152775C>T" "" "" "" "INSR(NM_000208.2):c.2193G>A (p.(Thr731=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043221" "0" "50" "19" "7117408" "7117408" "subst" "1.22387E-5" "01804" "INSR_000205" "g.7117408G>A" "" "" "" "INSR(NM_000208.4):c.3808C>T (p.(Arg1270Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043222" "0" "90" "19" "7120689" "7120689" "subst" "0" "01804" "INSR_000206" "g.7120689G>A" "" "" "" "INSR(NM_000208.2):c.3601C>T (p.(Arg1201Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001043223" "0" "50" "19" "7143049" "7143049" "subst" "6.50169E-5" "01804" "INSR_000207" "g.7143049C>T" "" "" "" "INSR(NM_000208.2):c.2320G>A (p.(Val774Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043224" "0" "50" "19" "7172340" "7172340" "subst" "7.71812E-5" "02325" "INSR_000208" "g.7172340C>T" "" "" "" "INSR(NM_000208.4):c.1229G>A (p.R410Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043225" "0" "50" "19" "7174615" "7174615" "subst" "0" "01804" "INSR_000209" "g.7174615T>G" "" "" "" "INSR(NM_000208.2):c.1102A>C (p.(Ile368Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043226" "0" "50" "19" "7184562" "7184562" "subst" "1.22859E-5" "01804" "INSR_000210" "g.7184562C>T" "" "" "" "INSR(NM_000208.2):c.739G>A (p.(Asp247Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046760" "0" "50" "19" "7117225" "7117225" "subst" "2.84299E-5" "01804" "INSR_000211" "g.7117225G>A" "" "" "" "INSR(NM_000208.2):c.3991C>T (p.(Arg1331Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046761" "0" "50" "19" "7122895" "7122895" "subst" "0" "01804" "INSR_000212" "g.7122895C>T" "" "" "" "INSR(NM_000208.2):c.3364G>A (p.(Ala1122Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046762" "0" "50" "19" "7132231" "7132231" "subst" "0" "01804" "INSR_000213" "g.7132231G>A" "" "" "" "INSR(NM_000208.2):c.2780C>T (p.(Ala927Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046763" "0" "50" "19" "7267433" "7267433" "subst" "0.000158382" "01804" "INSR_000214" "g.7267433C>T" "" "" "" "INSR(NM_000208.2):c.575G>A (p.(Gly192Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes INSR ## Count = 249 "{{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}}" "0000129980" "00010071" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Cys)" "" "0000130007" "00010071" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Cys)" "" "0000281552" "00010071" "10" "1650" "0" "1650" "0" "c.1650G>A" "r.(?)" "p.(Ala550=)" "" "0000281553" "00010071" "50" "2822" "0" "2822" "0" "c.2822A>G" "r.(?)" "p.(Tyr941Cys)" "" "0000281554" "00010071" "10" "653" "-5" "653" "-4" "c.653-5_653-4del" "r.spl?" "p.?" "" "0000289654" "00010071" "30" "2243" "0" "2243" "0" "c.2243C>T" "r.(?)" "p.(Ser748Leu)" "" "0000289655" "00010071" "30" "2295" "0" "2295" "0" "c.2295C>T" "r.(?)" "p.(Gly765=)" "" "0000289656" "00010071" "30" "2766" "0" "2766" "0" "c.2766C>T" "r.(?)" "p.(Ser922=)" "" "0000289657" "00010071" "10" "653" "-5" "653" "-4" "c.653-5_653-4del" "r.spl?" "p.?" "" "0000326097" "00010071" "50" "3919" "0" "3919" "0" "c.3919G>A" "r.(?)" "p.(Glu1307Lys)" "" "0000326098" "00010071" "30" "956" "0" "956" "0" "c.956A>T" "r.(?)" "p.(Tyr319Phe)" "" "0000341938" "00010071" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Cys)" "" "0000568693" "00010071" "30" "4137" "0" "4137" "0" "c.4137C>T" "r.(?)" "p.(Ser1379=)" "" "0000568694" "00010071" "10" "3795" "-5" "3795" "-5" "c.3795-5C>T" "r.spl?" "p.?" "" "0000568695" "00010071" "30" "3530" "-6" "3530" "-6" "c.3530-6T>C" "r.(=)" "p.(=)" "" "0000568696" "00010071" "30" "3370" "-12" "3370" "-12" "c.3370-12T>G" "r.(=)" "p.(=)" "" "0000568697" "00010071" "30" "3370" "-15" "3370" "-15" "c.3370-15G>A" "r.(=)" "p.(=)" "" "0000568698" "00010071" "30" "3324" "0" "3324" "0" "c.3324C>T" "r.(?)" "p.(His1108=)" "" "0000568699" "00010071" "30" "3258" "16" "3258" "16" "c.3258+16G>A" "r.(=)" "p.(=)" "" "0000568700" "00010071" "50" "3203" "0" "3203" "0" "c.3203G>A" "r.(?)" "p.(Arg1068Gln)" "" "0000568701" "00010071" "30" "3158" "0" "3158" "0" "c.3158G>A" "r.(?)" "p.(Arg1053His)" "" "0000568702" "00010071" "50" "3093" "0" "3093" "0" "c.3093G>C" "r.(?)" "p.(Gln1031His)" "" "0000568703" "00010071" "50" "3092" "0" "3092" "0" "c.3092A>C" "r.(?)" "p.(Gln1031Pro)" "" "0000568705" "00010071" "30" "3034" "0" "3034" "0" "c.3034G>A" "r.(?)" "p.(Val1012Met)" "" "0000568706" "00010071" "10" "3034" "0" "3034" "0" "c.3034G>A" "r.(?)" "p.(Val1012Met)" "" "0000568707" "00010071" "30" "3033" "0" "3033" "0" "c.3033C>T" "r.(?)" "p.(Tyr1011=)" "" "0000568708" "00010071" "30" "3023" "0" "3023" "0" "c.3023G>C" "r.(?)" "p.(Cys1008Ser)" "" "0000568709" "00010071" "30" "2970" "0" "2970" "0" "c.2970G>A" "r.(?)" "p.(Pro990=)" "" "0000568710" "00010071" "50" "2950" "0" "2950" "0" "c.2950C>G" "r.(?)" "p.(Pro984Ala)" "" "0000568711" "00010071" "30" "2946" "-14" "2946" "-14" "c.2946-14T>C" "r.(=)" "p.(=)" "" "0000568712" "00010071" "30" "2838" "0" "2838" "0" "c.2838C>G" "r.(?)" "p.(Asp946Glu)" "" "0000568713" "00010071" "10" "2683" "-5" "2683" "-5" "c.2683-5C>T" "r.spl?" "p.?" "" "0000568714" "00010071" "30" "2683" "-5" "2683" "-5" "c.2683-5C>T" "r.spl?" "p.?" "" "0000568715" "00010071" "30" "2682" "9" "2682" "9" "c.2682+9C>G" "r.(=)" "p.(=)" "" "0000568716" "00010071" "30" "2643" "0" "2643" "0" "c.2643C>T" "r.(?)" "p.(Ile881=)" "" "0000568717" "00010071" "30" "2598" "0" "2598" "0" "c.2598C>T" "r.(?)" "p.(Val866=)" "" "0000568718" "00010071" "30" "2575" "0" "2575" "0" "c.2575C>T" "r.(?)" "p.(His859Tyr)" "" "0000568719" "00010071" "30" "2542" "3" "2542" "3" "c.2542+3A>G" "r.spl?" "p.?" "" "0000568720" "00010071" "30" "2526" "0" "2526" "0" "c.2526G>C" "r.(?)" "p.(Ala842=)" "" "0000568721" "00010071" "30" "2448" "0" "2448" "0" "c.2448G>A" "r.(?)" "p.(Thr816=)" "" "0000568722" "00010071" "30" "2295" "0" "2295" "0" "c.2295C>T" "r.(?)" "p.(Gly765=)" "" "0000568723" "00010071" "30" "2280" "0" "2280" "0" "c.2280A>G" "r.(?)" "p.(Lys760=)" "" "0000568724" "00010071" "30" "2268" "-7" "2268" "-7" "c.2268-7G>A" "r.(=)" "p.(=)" "" "0000568725" "00010071" "10" "2267" "17" "2267" "17" "c.2267+17C>T" "r.(=)" "p.(=)" "" "0000568726" "00010071" "30" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(Pro755Ser)" "" "0000568727" "00010071" "30" "2243" "0" "2243" "0" "c.2243C>T" "r.(?)" "p.(Ser748Leu)" "" "0000568728" "00010071" "30" "2232" "-20" "2232" "-20" "c.2232-20C>T" "r.(=)" "p.(=)" "" "0000568729" "00010071" "10" "2231" "20" "2231" "20" "c.2231+20C>A" "r.(=)" "p.(=)" "" "0000568730" "00010071" "30" "2193" "0" "2193" "0" "c.2193G>A" "r.(?)" "p.(Thr731=)" "" "0000568731" "00010071" "30" "2117" "0" "2117" "0" "c.2117C>A" "r.(?)" "p.(Ala706Asp)" "" "0000568732" "00010071" "30" "2084" "0" "2084" "0" "c.2084A>G" "r.(?)" "p.(Gln695Arg)" "" "0000568733" "00010071" "30" "1989" "0" "1989" "0" "c.1989G>A" "r.(?)" "p.(Ala663=)" "" "0000568734" "00010071" "30" "1503" "0" "1503" "0" "c.1503A>G" "r.(?)" "p.(Lys501=)" "" "0000568735" "00010071" "30" "1123" "13" "1123" "13" "c.1123+13G>T" "r.(=)" "p.(=)" "" "0000568736" "00010071" "30" "1098" "0" "1098" "0" "c.1098T>C" "r.(?)" "p.(Ser366=)" "" "0000568737" "00010071" "30" "1080" "0" "1080" "0" "c.1080C>T" "r.(?)" "p.(Cys360=)" "" "0000568738" "00010071" "50" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Asp349Asn)" "" "0000568740" "00010071" "30" "951" "0" "951" "0" "c.951C>T" "r.(?)" "p.(Ser317=)" "" "0000568741" "00010071" "10" "909" "0" "909" "0" "c.909G>A" "r.(?)" "p.(Gln303=)" "" "0000568742" "00010071" "30" "881" "0" "881" "0" "c.881A>G" "r.(?)" "p.(Lys294Arg)" "" "0000568743" "00010071" "10" "870" "0" "870" "0" "c.870C>T" "r.(?)" "p.(His290=)" "" "0000568744" "00010071" "30" "690" "0" "690" "0" "c.690C>T" "r.(?)" "p.(Ala230=)" "" "0000568750" "00010071" "10" "653" "-7" "653" "-7" "c.653-7del" "r.(=)" "p.(=)" "" "0000568751" "00010071" "10" "653" "-9" "653" "-9" "c.653-9del" "r.(=)" "p.(=)" "" "0000568752" "00010071" "10" "653" "-7" "653" "-4" "c.653-7_653-4dup" "r.spl?" "p.?" "" "0000568753" "00010071" "30" "653" "-5" "653" "-4" "c.653-5_653-4del" "r.spl?" "p.?" "" "0000568755" "00010071" "10" "653" "-5" "653" "-4" "c.653-5_653-4dup" "r.spl?" "p.?" "" "0000568756" "00010071" "30" "634" "0" "634" "0" "c.634C>G" "r.(?)" "p.(His212Asp)" "" "0000568757" "00010071" "30" "618" "0" "618" "0" "c.618C>T" "r.(?)" "p.(Val206=)" "" "0000568758" "00010071" "30" "393" "0" "393" "0" "c.393C>T" "r.(?)" "p.(Leu131=)" "" "0000568760" "00010071" "30" "278" "0" "278" "0" "c.278T>C" "r.(?)" "p.(Val93Ala)" "" "0000568762" "00010071" "10" "262" "0" "262" "0" "c.262T>C" "r.(?)" "p.(Leu88=)" "" "0000568763" "00010071" "10" "262" "0" "262" "0" "c.262T>C" "r.(?)" "p.(Leu88=)" "" "0000568765" "00010071" "30" "117" "0" "117" "0" "c.117T>C" "r.(?)" "p.(Asp39=)" "" "0000568766" "00010071" "30" "90" "0" "90" "0" "c.90C>T" "r.(?)" "p.(Tyr30=)" "" "0000568768" "00010071" "30" "25" "0" "25" "0" "c.25G>C" "r.(?)" "p.(Ala9Pro)" "" "0000617932" "00010071" "30" "951" "0" "951" "0" "c.951C>T" "r.(?)" "p.(Ser317=)" "" "0000617933" "00010071" "30" "653" "-5" "653" "-4" "c.653-5_653-4dup" "r.spl?" "p.?" "" "0000617934" "00010071" "30" "39" "0" "39" "0" "c.39G>C" "r.(?)" "p.(Pro13=)" "" "0000624102" "00010071" "30" "653" "-5" "653" "-4" "c.653-5_653-4dup" "r.spl?" "p.?" "" "0000631890" "00010071" "50" "2254" "0" "2255" "0" "c.2254_2255delinsTT" "r.(?)" "p.(Ala752Phe)" "" "0000631891" "00010071" "50" "2254" "0" "2254" "0" "c.2254G>T" "r.(?)" "p.(Ala752Ser)" "" "0000631892" "00010071" "50" "2255" "0" "2255" "0" "c.2255C>T" "r.(?)" "p.(Ala752Val)" "" "0000650062" "00010071" "30" "4373" "0" "4373" "0" "c.*224C>T" "r.(=)" "p.(=)" "" "0000650063" "00010071" "30" "4082" "0" "4082" "0" "c.4082A>G" "r.(?)" "p.(Tyr1361Cys)" "" "0000650064" "00010071" "50" "3034" "0" "3034" "0" "c.3034G>A" "r.(?)" "p.(Val1012Met)" "" "0000669495" "00010071" "50" "3034" "0" "3034" "0" "c.3034G>A" "r.(?)" "p.(Val1012Met)" "" "0000681541" "00010071" "30" "2575" "0" "2575" "0" "c.2575C>T" "r.(?)" "p.(His859Tyr)" "" "0000692909" "00010071" "50" "4133" "0" "4133" "0" "c.4133G>A" "r.(?)" "p.(Arg1378Gln)" "" "0000692910" "00010071" "30" "2243" "0" "2243" "0" "c.2243C>T" "r.(?)" "p.(Ser748Leu)" "" "0000727569" "00010071" "50" "4028" "0" "4028" "0" "c.4028G>A" "r.(?)" "p.(Arg1343Gln)" "" "0000727570" "00010071" "50" "2969" "0" "2969" "0" "c.2969C>T" "r.(?)" "p.(Pro990Leu)" "" "0000727571" "00010071" "50" "779" "0" "779" "0" "c.779T>G" "r.(?)" "p.(Leu260Arg)" "" "0000727572" "00010071" "50" "84" "0" "84" "0" "c.84C>A" "r.(?)" "p.(His28Gln)" "" "0000760921" "00010071" "70" "3355" "0" "3355" "0" "c.3355C>T" "r.(?)" "p.(Arg1119Trp)" "18" "0000760922" "00010071" "90" "749" "0" "751" "0" "c.749_751del" "r.(?)" "p.(Thr250del)" "3" "0000760923" "00010071" "10" "3670" "0" "3670" "0" "c.3670G>A" "r.(?)" "p.(Val1224Met)" "21" "0000760924" "00010071" "90" "3614" "0" "3614" "0" "c.3614C>T" "r.(?)" "p.(Pro1205Leu)" "20" "0000760925" "00010071" "10" "3670" "0" "3670" "0" "c.3670G>A" "r.(?)" "p.(Val1224Met)" "20" "0000760926" "00010071" "70" "3614" "0" "3614" "0" "c.3614C>T" "r.(?)" "p.(Pro1205Leu)" "21" "0000809090" "00010071" "30" "4032" "0" "4032" "0" "c.4032T>C" "r.(?)" "p.(Asp1344=)" "" "0000809091" "00010071" "50" "3178" "0" "3178" "0" "c.3178A>G" "r.(?)" "p.(Asn1060Asp)" "" "0000809092" "00010071" "30" "2970" "0" "2970" "0" "c.2970G>A" "r.(?)" "p.(Pro990=)" "" "0000809093" "00010071" "30" "2697" "0" "2697" "0" "c.2697C>T" "r.(?)" "p.(Cys899=)" "" "0000809094" "00010071" "30" "2544" "0" "2544" "0" "c.2544C>T" "r.(?)" "p.(Ala848=)" "" "0000809095" "00010071" "50" "2525" "0" "2525" "0" "c.2525C>G" "r.(?)" "p.(Ala842Gly)" "" "0000809096" "00010071" "30" "888" "0" "888" "0" "c.888G>A" "r.(?)" "p.(Ser296=)" "" "0000809097" "00010071" "30" "653" "-7" "653" "-4" "c.653-7_653-4dup" "r.spl?" "p.?" "" "0000855731" "00010071" "30" "1080" "0" "1080" "0" "c.1080C>T" "r.(?)" "p.(Cys360=)" "" "0000866294" "00010071" "50" "4043" "0" "4043" "0" "c.4043C>T" "r.(?)" "p.(Ser1348Leu)" "" "0000866295" "00010071" "50" "3999" "0" "3999" "0" "c.3999G>A" "r.(?)" "p.(Ser1333=)" "" "0000866296" "00010071" "30" "3976" "0" "3976" "0" "c.3976A>C" "r.(?)" "p.(Asn1326His)" "" "0000866297" "00010071" "30" "3669" "0" "3669" "0" "c.3669C>T" "r.(?)" "p.(Gly1223=)" "" "0000866298" "00010071" "30" "3530" "-15" "3530" "-15" "c.3530-15C>A" "r.(=)" "p.(=)" "" "0000866299" "00010071" "50" "3157" "0" "3157" "0" "c.3157C>T" "r.(?)" "p.(Arg1053Cys)" "" "0000866300" "00010071" "30" "2971" "0" "2971" "0" "c.2971C>A" "r.(?)" "p.(Leu991Ile)" "" "0000866301" "00010071" "30" "2877" "0" "2877" "0" "c.2877C>T" "r.(?)" "p.(Ile959=)" "" "0000866302" "00010071" "30" "2766" "0" "2766" "0" "c.2766C>T" "r.(?)" "p.(Ser922=)" "" "0000866303" "00010071" "30" "2754" "0" "2754" "0" "c.2754G>A" "r.(?)" "p.(Pro918=)" "" "0000866304" "00010071" "30" "2718" "0" "2718" "0" "c.2718T>C" "r.(?)" "p.(Ala906=)" "" "0000866305" "00010071" "50" "2677" "0" "2677" "0" "c.2677G>A" "r.(?)" "p.(Asp893Asn)" "" "0000866306" "00010071" "50" "2573" "0" "2573" "0" "c.2573C>T" "r.(?)" "p.(Thr858Met)" "" "0000866307" "00010071" "50" "2549" "0" "2549" "0" "c.2549C>G" "r.(?)" "p.(Ala850Gly)" "" "0000866308" "00010071" "30" "2543" "0" "2543" "0" "c.2543C>T" "r.(?)" "p.(Ala848Val)" "" "0000866309" "00010071" "30" "2542" "16" "2542" "16" "c.2542+16C>T" "r.(=)" "p.(=)" "" "0000866310" "00010071" "30" "2370" "0" "2370" "0" "c.2370G>A" "r.(?)" "p.(Thr790=)" "" "0000866311" "00010071" "30" "2355" "0" "2355" "0" "c.2355G>A" "r.(?)" "p.(Ser785=)" "" "0000866312" "00010071" "30" "2331" "0" "2331" "0" "c.2331G>A" "r.(?)" "p.(Val777=)" "" "0000866313" "00010071" "50" "2192" "0" "2192" "0" "c.2192C>T" "r.(?)" "p.(Thr731Met)" "" "0000866314" "00010071" "30" "1884" "0" "1884" "0" "c.1884A>G" "r.(?)" "p.(Pro628=)" "" "0000866315" "00010071" "50" "1807" "0" "1807" "0" "c.1807C>T" "r.(?)" "p.(Arg603Cys)" "" "0000866316" "00010071" "50" "1799" "0" "1799" "0" "c.1799C>T" "r.(?)" "p.(Ser600Leu)" "" "0000866317" "00010071" "50" "1612" "0" "1612" "0" "c.1612C>A" "r.(?)" "p.(Pro538Thr)" "" "0000866318" "00010071" "50" "1550" "0" "1550" "0" "c.1550A>G" "r.(?)" "p.(Glu517Gly)" "" "0000866319" "00010071" "50" "1483" "3" "1483" "3" "c.1483+3A>C" "r.spl?" "p.?" "" "0000866320" "00010071" "30" "1191" "0" "1191" "0" "c.1191C>T" "r.(?)" "p.(Ile397=)" "" "0000866321" "00010071" "30" "1051" "0" "1051" "0" "c.1051G>A" "r.(?)" "p.(Val351Met)" "" "0000866322" "00010071" "30" "1042" "0" "1042" "0" "c.1042A>C" "r.(?)" "p.(Ile348Leu)" "" "0000866323" "00010071" "30" "975" "-17" "975" "-14" "c.975-17_975-14del" "r.(=)" "p.(=)" "" "0000866324" "00010071" "30" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Thr320Met)" "" "0000866325" "00010071" "30" "881" "0" "881" "0" "c.881A>G" "r.(?)" "p.(Lys294Arg)" "" "0000866326" "00010071" "30" "870" "0" "870" "0" "c.870C>T" "r.(?)" "p.(His290=)" "" "0000866327" "00010071" "30" "757" "0" "757" "0" "c.757G>A" "r.(?)" "p.(Val253Met)" "" "0000866328" "00010071" "30" "738" "0" "738" "0" "c.738C>T" "r.(?)" "p.(Pro246=)" "" "0000866329" "00010071" "30" "726" "0" "726" "0" "c.726C>T" "r.(?)" "p.(Asn242=)" "" "0000866330" "00010071" "30" "687" "0" "687" "0" "c.687C>T" "r.(?)" "p.(Thr229=)" "" "0000866331" "00010071" "30" "653" "-23" "653" "-4" "c.653-23_653-4dup" "r.spl?" "p.?" "" "0000866332" "00010071" "30" "653" "-15" "653" "-4" "c.653-15_653-4dup" "r.spl?" "p.?" "" "0000866333" "00010071" "30" "653" "-13" "653" "-4" "c.653-13_653-4dup" "r.spl?" "p.?" "" "0000866334" "00010071" "30" "653" "-11" "653" "-4" "c.653-11_653-4dup" "r.spl?" "p.?" "" "0000866335" "00010071" "30" "653" "-7" "653" "-4" "c.653-7_653-4del" "r.spl?" "p.?" "" "0000866336" "00010071" "30" "652" "19" "652" "19" "c.652+19G>T" "r.(=)" "p.(=)" "" "0000866337" "00010071" "30" "553" "0" "553" "0" "c.553A>G" "r.(?)" "p.(Ile185Val)" "" "0000866338" "00010071" "30" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162His)" "" "0000866339" "00010071" "70" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Ala156Thr)" "" "0000866340" "00010071" "70" "462" "0" "463" "0" "c.462_463insCTTTATCCCCGTAAATTATCTCCTGAAGATCTTCTATG" "r.(?)" "p.(Ala156Tyrfs*32)" "" "0000866341" "00010071" "70" "460" "0" "461" "0" "c.460_461insGCCCCATTTCTGACCGCGGGC" "r.(?)" "p.(Tyr154delinsCysProIleSerAspArgGlyHis)" "" "0000866342" "00010071" "30" "84" "0" "84" "0" "c.84C>A" "r.(?)" "p.(His28Gln)" "" "0000866343" "00010071" "30" "41" "0" "41" "0" "c.41T>C" "r.(?)" "p.(Leu14Pro)" "" "0000866344" "00010071" "30" "40" "0" "41" "0" "c.40_41insCCC" "r.(?)" "p.(Pro13dup)" "" "0000866345" "00010071" "30" "38" "0" "39" "0" "c.38_39insCCTGCTGGTGGCGGTGGCCGC" "r.(?)" "p.(Val16_Leu22dup)" "" "0000866346" "00010071" "30" "12" "0" "12" "0" "c.12G>T" "r.(?)" "p.(Gly4=)" "" "0000895173" "00010071" "30" "3615" "0" "3615" "0" "c.3615G>A" "r.(?)" "p.(Pro1205=)" "" "0000895174" "00010071" "70" "3470" "0" "3470" "0" "c.3470A>G" "r.(?)" "p.(His1157Arg)" "" "0000895175" "00010071" "30" "3258" "16" "3258" "16" "c.3258+16G>A" "r.(=)" "p.(=)" "" "0000895176" "00010071" "30" "2683" "-15" "2683" "-13" "c.2683-15_2683-13del" "r.(=)" "p.(=)" "" "0000895177" "00010071" "30" "2682" "9" "2682" "9" "c.2682+9C>G" "r.(=)" "p.(=)" "" "0000895178" "00010071" "10" "2643" "0" "2643" "0" "c.2643C>T" "r.(?)" "p.(Ile881=)" "" "0000895179" "00010071" "30" "2460" "0" "2460" "0" "c.2460C>T" "r.(?)" "p.(Ile820=)" "" "0000895180" "00010071" "10" "2370" "0" "2370" "0" "c.2370G>A" "r.(?)" "p.(Thr790=)" "" "0000895181" "00010071" "30" "2295" "0" "2295" "0" "c.2295C>T" "r.(?)" "p.(Gly765=)" "" "0000895182" "00010071" "50" "2206" "0" "2206" "0" "c.2206C>G" "r.(?)" "p.(Leu736Val)" "" "0000895183" "00010071" "50" "1130" "0" "1130" "0" "c.1130T>C" "r.(?)" "p.(Leu377Pro)" "" "0000895184" "00010071" "30" "653" "-4" "653" "-3" "c.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTC" "r.spl?" "p.?" "" "0000895185" "00010071" "30" "489" "0" "489" "0" "c.489C>A" "r.(?)" "p.(Ile163=)" "" "0000895186" "00010071" "30" "224" "0" "224" "0" "c.224A>G" "r.(?)" "p.(Asp75Gly)" "" "0000895187" "00010071" "30" "41" "0" "41" "0" "c.41T>C" "r.(?)" "p.(Leu14Pro)" "" "0000915309" "00010071" "30" "4020" "0" "4020" "0" "c.4020G>A" "r.(?)" "p.(Ala1340=)" "" "0000915310" "00010071" "50" "3560" "0" "3560" "0" "c.3560C>T" "r.(?)" "p.(Thr1187Met)" "" "0000915311" "00010071" "30" "3324" "0" "3324" "0" "c.3324C>T" "r.(?)" "p.(His1108=)" "" "0000915312" "00010071" "50" "3122" "0" "3122" "0" "c.3122A>G" "r.(?)" "p.(Asn1041Ser)" "" "0000915313" "00010071" "30" "2741" "0" "2741" "0" "c.2741G>A" "r.(?)" "p.(Arg914His)" "" "0000915314" "00010071" "50" "2698" "0" "2698" "0" "c.2698G>A" "r.(?)" "p.(Val900Ile)" "" "0000915315" "00010071" "30" "2376" "0" "2376" "0" "c.2376G>A" "r.(?)" "p.(Pro792=)" "" "0000915316" "00010071" "10" "1989" "0" "1989" "0" "c.1989G>A" "r.(?)" "p.(Ala663=)" "" "0000915317" "00010071" "10" "1932" "0" "1932" "0" "c.1932A>C" "r.(?)" "p.(Pro644=)" "" "0000915318" "00010071" "10" "1918" "0" "1918" "0" "c.1918C>T" "r.(?)" "p.(Leu640=)" "" "0000915319" "00010071" "10" "1862" "-4" "1862" "-4" "c.1862-4A>G" "r.spl?" "p.?" "" "0000915320" "00010071" "10" "1862" "-20" "1862" "-20" "c.1862-20A>G" "r.(=)" "p.(=)" "" "0000915321" "00010071" "10" "1638" "0" "1638" "0" "c.1638C>T" "r.(?)" "p.(Asp546=)" "" "0000915322" "00010071" "10" "653" "-11" "653" "-4" "c.653-11_653-4dup" "r.spl?" "p.?" "" "0000915323" "00010071" "30" "653" "-7" "653" "-4" "c.653-7_653-4del" "r.spl?" "p.?" "" "0000915324" "00010071" "10" "5" "0" "5" "0" "c.5C>G" "r.(?)" "p.(Ala2Gly)" "" "0000926954" "00010071" "50" "3160" "0" "3160" "0" "c.3160G>A" "r.(?)" "p.(Val1054Met)" "" "0000926955" "00010071" "30" "2793" "0" "2793" "0" "c.2793G>A" "r.(?)" "p.(Ala931=)" "" "0000926956" "00010071" "30" "2736" "0" "2736" "0" "c.2736G>A" "r.(?)" "p.(Arg912=)" "" "0000926957" "00010071" "10" "2683" "-5" "2683" "-5" "c.2683-5C>T" "r.spl?" "p.?" "" "0000926958" "00010071" "30" "2665" "0" "2665" "0" "c.2665C>T" "r.(?)" "p.(Arg889Trp)" "" "0000926959" "00010071" "50" "2101" "0" "2101" "0" "c.2101G>A" "r.(?)" "p.(Glu701Lys)" "" "0000926960" "00010071" "30" "741" "0" "741" "0" "c.741C>T" "r.(?)" "p.(Asp247=)" "" "0000926961" "00010071" "30" "618" "0" "618" "0" "c.618C>T" "r.(?)" "p.(Val206=)" "" "0000931122" "00010071" "50" "3881" "0" "3881" "0" "c.3881T>C" "r.(?)" "p.(Leu1294Pro)" "" "0000931123" "00010071" "30" "3530" "-15" "3530" "-15" "c.3530-15C>A" "r.(=)" "p.(=)" "" "0000931124" "00010071" "30" "3158" "0" "3158" "0" "c.3158G>A" "r.(?)" "p.(Arg1053His)" "" "0000931125" "00010071" "30" "2232" "-15" "2232" "-15" "c.2232-15G>A" "r.(=)" "p.(=)" "" "0000931126" "00010071" "30" "2081" "0" "2081" "0" "c.2081C>T" "r.(?)" "p.(Ser694Phe)" "" "0000931127" "00010071" "90" "1195" "0" "1195" "0" "c.1195C>T" "r.(?)" "p.(Arg399*)" "" "0000931128" "00010071" "30" "1092" "0" "1092" "0" "c.1092C>T" "r.(?)" "p.(=)" "" "0000931129" "00010071" "30" "960" "0" "960" "0" "c.960G>A" "r.(?)" "p.(=)" "" "0000943926" "00010071" "50" "887" "0" "887" "0" "c.887C>G" "r.(?)" "p.(Ser296Trp)" "" "0000951370" "00010071" "30" "3954" "0" "3954" "0" "c.3954G>A" "r.(?)" "p.(=)" "" "0000951371" "00010071" "30" "2117" "0" "2117" "0" "c.2117C>A" "r.(?)" "p.(Ala706Asp)" "" "0000951372" "00010071" "30" "1413" "0" "1413" "0" "c.1413A>G" "r.(?)" "p.(=)" "" "0000951373" "00010071" "30" "1203" "0" "1203" "0" "c.1203C>T" "r.(?)" "p.(=)" "" "0000951374" "00010071" "50" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Arg358Gln)" "" "0000951375" "00010071" "30" "660" "0" "660" "0" "c.660G>T" "r.(?)" "p.(=)" "" "0000951376" "00010071" "50" "431" "0" "431" "0" "c.431T>A" "r.(?)" "p.(Val144Asp)" "" "0000951377" "00010071" "30" "262" "0" "262" "0" "c.262T>C" "r.(?)" "p.(Leu88=)" "" "0000970033" "00010071" "50" "3794" "0" "3794" "0" "c.3794T>C" "r.(?)" "p.(Val1265Ala)" "" "0000970034" "00010071" "30" "2245" "0" "2245" "0" "c.2245G>A" "r.(?)" "p.(Gly749Ser)" "" "0000970035" "00010071" "30" "888" "0" "888" "0" "c.888G>A" "r.(?)" "p.(Ser296=)" "" "0000970036" "00010071" "30" "687" "0" "687" "0" "c.687C>T" "r.(?)" "p.(Thr229=)" "" "0000983696" "00010071" "50" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Asn384Ser)" "" "0001005206" "00010071" "50" "3832" "0" "3832" "0" "c.3832A>G" "r.(?)" "p.(Lys1278Glu)" "" "0001005207" "00010071" "30" "3259" "-20" "3259" "-20" "c.3259-20C>A" "r.(=)" "p.(=)" "" "0001005208" "00010071" "50" "2878" "0" "2878" "0" "c.2878G>A" "r.(?)" "p.(Gly960Ser)" "" "0001005209" "00010071" "50" "2811" "0" "2811" "0" "c.2811G>A" "r.(?)" "p.(=)" "" "0001005210" "00010071" "90" "2437" "0" "2437" "0" "c.2437C>T" "r.(?)" "p.(Arg813*)" "" "0001005211" "00010071" "50" "779" "0" "779" "0" "c.779T>G" "r.(?)" "p.(Leu260Arg)" "" "0001005212" "00010071" "50" "652" "5" "652" "5" "c.652+5G>A" "r.spl?" "p.?" "" "0001015840" "00010071" "50" "3655" "0" "3655" "0" "c.3655A>G" "r.(?)" "p.(Met1219Val)" "" "0001015841" "00010071" "50" "2960" "0" "2960" "0" "c.2960C>T" "r.(?)" "p.(Pro987Leu)" "" "0001015842" "00010071" "50" "2327" "0" "2327" "0" "c.2327C>T" "r.(?)" "p.(Thr776Met)" "" "0001015843" "00010071" "30" "1179" "0" "1179" "0" "c.1179G>A" "r.(?)" "p.(=)" "" "0001015844" "00010071" "90" "101" "-2" "101" "-2" "c.101-2A>C" "r.spl?" "p.?" "" "0001027280" "00010071" "50" "4007" "0" "4010" "0" "c.4007_4010del" "r.(?)" "p.(Gln1336Argfs*28)" "" "0001027281" "00010071" "50" "3989" "0" "3989" "0" "c.3989A>G" "r.(?)" "p.(Asp1330Gly)" "" "0001027282" "00010071" "10" "3034" "0" "3034" "0" "c.3034G>A" "r.(?)" "p.(Val1012Met)" "" "0001027283" "00010071" "30" "2193" "0" "2193" "0" "c.2193G>A" "r.(?)" "p.(Thr731=)" "" "0001043221" "00010071" "50" "3808" "0" "3808" "0" "c.3808C>T" "r.(?)" "p.(Arg1270Cys)" "" "0001043222" "00010071" "90" "3601" "0" "3601" "0" "c.3601C>T" "r.(?)" "p.(Arg1201Trp)" "" "0001043223" "00010071" "50" "2320" "0" "2320" "0" "c.2320G>A" "r.(?)" "p.(Val774Met)" "" "0001043224" "00010071" "50" "1229" "0" "1229" "0" "c.1229G>A" "r.(?)" "p.(Arg410Gln)" "" "0001043225" "00010071" "50" "1102" "0" "1102" "0" "c.1102A>C" "r.(?)" "p.(Ile368Leu)" "" "0001043226" "00010071" "50" "739" "0" "739" "0" "c.739G>A" "r.(?)" "p.(Asp247Asn)" "" "0001046760" "00010071" "50" "3991" "0" "3991" "0" "c.3991C>T" "r.(?)" "p.(Arg1331Cys)" "" "0001046761" "00010071" "50" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Ala1122Thr)" "" "0001046762" "00010071" "50" "2780" "0" "2780" "0" "c.2780C>T" "r.(?)" "p.(Ala927Val)" "" "0001046763" "00010071" "50" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Gly192Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000080906" "0000129980" "0000080921" "0000130007" "0000293373" "0000650062" "0000293374" "0000650063" "0000293375" "0000650064" "0000305807" "0000669495" "0000360820" "0000760921" "0000360820" "0000760922" "0000360821" "0000760923" "0000360821" "0000760924" "0000360822" "0000760925" "0000360822" "0000760926"