### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NTHL1) # 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}}" "NTHL1" "nth endonuclease III-like 1 (E. coli)" "16" "p13.3" "unknown" "NG_008412.1" "UD_132118611508" "" "http://www.LOVD.nl/NTHL1" "" "1" "8028" "4913" "602656" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/NTHL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-06-06 23:20:41" "00000" "2025-09-24 17:07:02" ## 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}}" "00014865" "NTHL1" "nth endonuclease III-like 1 (E. coli)" "001" "NM_002528.5" "" "NP_002519.1" "" "" "" "-19" "1048" "939" "2097867" "2089816" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00314" "polyposis" "polyposis" "" "" "" "" "" "00006" "2014-01-27 14:59:09" "" "" "00423" "-" "cancer, endometrial" "AD;SMu" "608089" "" "" "" "00006" "2014-06-18 09:01:15" "00006" "2021-12-10 21:51:32" "00681" "cancer, pancreatic" "cancer, pancreatic" "" "260350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-08-28 08:24:29" "01524" "cancer, prostate" "cancer, prostate" "AD;SMu" "176807" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02638" "meningioma" "meningioma, familial, susceptibility to" "AD" "607174" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-12-26 15:18:15" "04280" "FAP" "adenomatous polyposis, familial (FAP)" "" "" "" "" "" "00006" "2015-06-06 23:26:41" "" "" "04600" "FAP3" "adenomatous polyposis, familial, type 23 (FAP-3)" "AR" "616415" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" "05389" "SWNTS" "Schwannomatosis (SWNTS)" "" "" "" "" "" "00006" "2018-02-01 14:09:26" "" "" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NTHL1" "00091" "NTHL1" "04600" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00038780" "" "" "" "2" "" "00006" "{PMID:Weren 2015:25938944}, {DOI:Weren 2015:10.1038/ng.3287}" "3-generation family, 2 affecteds (brother/sister), unaffected heterozygous carrier parents" "" "no" "Netherlands" "" "0" "" "" "" "" "00038781" "" "" "" "3" "" "00006" "{PMID:Weren 2015:25938944}, {DOI:Weren 2015:10.1038/ng.3287}" "7-generation family, 3 affecteds (sister/2 brothers), unaffected heterozygous carrier parents" "" "yes" "Netherlands" "" "0" "" "" "" "" "00038782" "" "" "" "2" "" "00006" "{PMID:Weren 2015:25938944}, {DOI:Weren 2015:10.1038/ng.3287}" "4-generation family, 2 affecteds (brother/sister), unaffected heterozygous carrier parents" "" "no" "Netherlands" "" "0" "" "" "" "" "00239147" "" "" "" "1" "" "03308" "" "" "?" "?" "Spain" "56y" "0" "" "" "" "" "00291404" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296564" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00300647" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00314767" "" "" "" "2" "" "03824" "" "family, affected brother and sister" "M" "" "France" "" "0" "" "" "" "P1-1" "00314785" "" "" "00314767" "1" "" "03824" "" "sister" "F" "" "France" "" "0" "" "" "" "P1-2" "00314790" "" "" "" "1" "" "03824" "" "" "M" "" "France" "" "" "" "" "" "P2-1" "00314796" "" "" "" "2" "" "03824" "" "family, 2 affected sisters" "F" "" "France" "" "0" "" "" "" "P3-1" "00314797" "" "" "00314796" "1" "" "03824" "" "sister" "F" "" "France" "" "0" "" "" "" "P3-2" "00314800" "" "" "" "1" "" "03824" "" "" "F" "" "France" "" "0" "" "" "" "P4-1" "00314802" "" "" "" "1" "" "03824" "" "" "M" "" "France" "" "" "" "" "" "P5-1" "00314803" "" "" "" "1" "" "03824" "" "" "M" "" "France" "" "" "" "" "" "P6-1" "00314804" "" "" "" "1" "" "03824" "" "" "M" "" "France" "" "" "" "" "" "P7-1" "00314805" "" "" "" "1" "" "03824" "" "" "M" "" "France" "" "" "" "" "" "P8-1" "00314806" "" "" "" "1" "" "03824" "" "" "M" "" "France" "" "" "" "" "" "P9-1" "00314807" "" "" "" "1" "" "03824" "" "" "F" "" "" "" "" "" "" "" "P10-1" "00314808" "" "" "" "1" "" "03824" "" "" "M" "" "France" "" "" "" "" "" "P11-1" "00314809" "" "" "" "1" "" "03824" "" "" "F" "" "France" "" "" "" "" "" "P12-1" "00372032" "" "" "" "1" "" "01164" "" "" "M" "?" "" "" "0" "" "" "" "176731" "00404565" "" "" "" "1" "" "00006" "{PMID:Rivera 2015:26559593}" "" "F" "" "Canada" "" "0" "" "" "Germany" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00038780" "04280" "00038781" "04280" "00038782" "04280" "00239147" "04280" "00291404" "00198" "00296564" "00198" "00300647" "00198" "00314767" "00314" "00314785" "02638" "00314790" "05489" "00314796" "00681" "00314797" "05489" "00314800" "05093" "00314802" "00314" "00314803" "05489" "00314804" "00314" "00314805" "00314" "00314806" "01524" "00314807" "04280" "00314808" "00314" "00314809" "00423" "00372032" "05389" "00404565" "04280" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091, 00198, 00314, 00423, 00681, 01524, 02638, 04280, 04600, 05093, 05389, 05489 ## Count = 20 "{{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/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000029136" "04280" "00038780" "00006" "Familial, autosomal recessive" "" "colorectal cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029137" "04280" "00038781" "00006" "Familial, autosomal recessive" "" "colorectal cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029138" "04280" "00038782" "00006" "Familial, autosomal recessive" "" "colorectal cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000179372" "04280" "00239147" "03308" "Unknown" "" "HP:0005227\r\nHP:0003003" "" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223970" "00198" "00296564" "01164" "Unknown" "" "Large intestinal polyposis (HP:0030255)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000227958" "00198" "00300647" "01164" "Unknown" "" "Neoplasm of the colon (HP:0100273); Intestinal polyp (HP:0005266)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238574" "02638" "00314785" "03824" "Familial, autosomal recessive" "" "Sinonasal sarcoma (46)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238575" "05489" "00314790" "03824" "Familial, autosomal recessive" "" "Adenomatous polyposis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238576" "00681" "00314796" "03824" "Familial, autosomal recessive" "" "Basal cell carcinoma (40)\r\nBreast ca. (42)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238577" "05489" "00314797" "03824" "Familial, autosomal recessive" "" "Basal cell carcinoma (39)\r\nBreast ca. (43)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238579" "05093" "00314800" "03824" "Familial, autosomal recessive" "" "Duodenal ca. (52)\r\n20 adenomas (52)" "" "" "" "" "MSS" "" "" "" "" "" "" "" "" "" "" "0000238580" "00314" "00314802" "03824" "Familial, autosomal recessive" "" "Mixed colon polyposis syndrome (58)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238581" "05489" "00314803" "03824" "Familial, autosomal recessive" "" "Caecal ca. (72)\r\n70 colorectal adenomas\r\nUrothelial carcinoma (65)\r\nScalp melanoma (68)" "" "" "" "" "f.boulouard" "" "" "" "" "" "" "" "" "" "" "0000238583" "00314" "00314804" "03824" "Familial, autosomal recessive" "" "~ 35 colorectal adenomas (55-73)\r\n2 small intestine desmoid tumors (55)\r\n2 duodenal adenomas (69)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238584" "00314" "00314805" "03824" "Familial, autosomal recessive" "" "22 tubular and tubulo-villous adenomas (58)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238585" "01524" "00314806" "03824" "Unknown" "" "Prostate ca. (47)\r\nHigh grade osteosarcoma of the femoral head in irradiated territory (54)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238586" "00314" "00314808" "03824" "Unknown" "" "1 duodenal adenoma with high grade dysplasia (63)\r\n6 colonic adenomas with low grade dysplasia (63)\r\n4 rectosigmoid hyperplastic polyps (63)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238587" "00423" "00314809" "03824" "Unknown" "" "Breast ca. (47) ipsilateral recurrence (49) \r\nEndometrial ca. (51) \r\nBasal cell carcinoma (64)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000267370" "05389" "00372032" "01164" "Unknown" "06y" "Multiple café au lait spots, impulsive behavioural disorder, adjustment disorder, cognitive development and language development rather slow, concentration problems." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000297155" "04280" "00404565" "00006" "Familial, autosomal recessive" "47y" "see paper; ..., adenocarcinoma arising in villotubular adenoma in sigmoid colon" "" "" "" "" "" "" "" "" "" "" "" "" "FAP3" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000039015" "00038780" "1" "00006" "00006" "2015-06-06 23:42:42" "00006" "2015-06-06 23:46:36" "SEQ" "DNA" "" "" "0000039016" "00038781" "1" "00006" "00006" "2015-06-06 23:50:24" "" "" "SEQ" "DNA" "" "" "0000039017" "00038782" "1" "00006" "00006" "2015-06-06 23:58:08" "" "" "SEQ" "DNA" "" "" "0000240251" "00239147" "1" "03308" "03308" "2019-06-03 11:55:26" "" "" "SEQ" "DNA" "" "" "0000292572" "00291404" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297674" "00296564" "1" "01164" "01164" "2020-04-08 14:12:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000301768" "00300647" "1" "01164" "01164" "2020-05-04 10:34:02" "" "" "SEQ-NG-S" "DNA" "" "" "0000315941" "00314767" "1" "03824" "03824" "2020-10-18 11:46:40" "" "" "SEQ-NG" "DNA" "" "" "0000315961" "00314785" "1" "03824" "03824" "2020-10-18 12:47:38" "" "" "SEQ" "DNA" "" "" "0000315965" "00314790" "1" "03824" "03824" "2020-10-18 12:56:49" "" "" "SEQ-NG" "DNA" "" "" "0000315970" "00314796" "1" "03824" "03824" "2020-10-18 13:13:17" "" "" "SEQ-NG" "DNA" "" "" "0000315971" "00314797" "1" "03824" "03824" "2020-10-18 13:20:53" "" "" "SEQ" "DNA" "" "" "0000315974" "00314800" "1" "03824" "03824" "2020-10-18 13:49:46" "" "" "SEQ-NG" "DNA" "" "" "0000315975" "00314802" "1" "03824" "03824" "2020-10-18 13:56:30" "" "" "SEQ-NG" "DNA" "" "" "0000315976" "00314803" "1" "03824" "03824" "2020-10-18 14:08:46" "" "" "SEQ-NG" "DNA" "" "" "0000315977" "00314804" "1" "03824" "03824" "2020-10-18 14:27:23" "" "" "SEQ-NG" "DNA" "" "" "0000315978" "00314805" "1" "03824" "03824" "2020-10-18 14:39:00" "" "" "SEQ-NG" "DNA" "" "" "0000315979" "00314806" "1" "03824" "03824" "2020-10-18 14:46:21" "" "" "SEQ-NG" "DNA" "" "" "0000315980" "00314807" "1" "03824" "03824" "2020-10-18 14:52:31" "" "" "SEQ-NG" "DNA" "" "" "0000315981" "00314808" "1" "03824" "03824" "2020-10-18 15:04:44" "" "" "SEQ-NG" "DNA" "" "" "0000315982" "00314809" "1" "03824" "03824" "2020-10-18 15:13:06" "" "" "SEQ-NG" "DNA" "" "" "0000373260" "00372032" "1" "01164" "01164" "2021-05-05 12:37:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000405804" "00404565" "1" "00006" "00006" "2022-03-03 17:31:06" "00006" "2022-03-03 17:40:57" "RT-PCR;SEQ" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{geneid}}" "0000039015" "APC" "0000039015" "MUTYH" "0000039015" "NTHL1" "0000039016" "APC" "0000039016" "MUTYH" "0000039016" "NTHL1" "0000039017" "APC" "0000039017" "MUTYH" "0000039017" "NTHL1" "0000240251" "NTHL1" "0000315941" "NTHL1" "0000315961" "NTHL1" "0000315965" "NTHL1" "0000315970" "NTHL1" "0000315971" "NTHL1" "0000315974" "NTHL1" "0000315975" "NTHL1" "0000315976" "NTHL1" "0000315977" "NTHL1" "0000315978" "NTHL1" "0000315979" "NTHL1" "0000315980" "NTHL1" "0000315981" "NTHL1" "0000315982" "NTHL1" "0000373260" "BRCA1" "0000373260" "CHEK2" "0000373260" "NTHL1" "0000405804" "NTHL1" ## 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 = 1530 "{{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}}" "0000067049" "3" "90" "16" "2096239" "2096239" "subst" "0.00142689" "00006" "NTHL1_000001" "g.2096239G>A" "3/48 families" "{PMID:Weren 2015:25938944}, {DOI:Weren 2015:10.1038/ng.3287}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2046238G>A" "" "pathogenic" "" "0000067050" "3" "90" "16" "2096239" "2096239" "subst" "0.00142689" "00006" "NTHL1_000001" "g.2096239G>A" "3/48 families" "{PMID:Weren 2015:25938944}, {DOI:Weren 2015:10.1038/ng.3287}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2046238G>A" "" "pathogenic" "" "0000067051" "3" "90" "16" "2096239" "2096239" "subst" "0.00142689" "00006" "NTHL1_000001" "g.2096239G>A" "3/48 families" "{PMID:Weren 2015:25938944}, {DOI:Weren 2015:10.1038/ng.3287}" "" "" "" "Germline" "" "" "0" "" "" "g.2046238G>A" "" "pathogenic" "" "0000247360" "0" "30" "16" "2103392" "2103392" "subst" "0.00100189" "02330" "TSC2_000963" "g.2103392A>T" "" "" "" "TSC2(NM_000548.3):c.275A>T (p.(Glu92Val), p.E92V), TSC2(NM_000548.5):c.275A>T (p.E92V), TSC2(NM_001114382.2):c.275A>T (p.E92V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053391A>T" "" "likely benign" "" "0000247361" "0" "30" "16" "2127595" "2127595" "subst" "0.0008537" "02330" "TSC2_000488" "g.2127595A>G" "" "" "" "TSC2(NM_000548.5):c.2838-4A>G, TSC2(NM_001114382.2):c.2838-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077594A>G" "" "likely benign" "" "0000247365" "0" "10" "16" "2138218" "2138218" "subst" "0.19978" "02330" "TSC2_000336" "g.2138218A>C" "" "" "" "PKD1(NM_001009944.3):c.*1510T>G, TSC2(NM_000548.3):c.5161-10A>C, TSC2(NM_000548.5):c.5161-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088217A>C" "" "benign" "" "0000247391" "0" "30" "16" "2112998" "2112998" "subst" "0.000477234" "02330" "TSC2_000169" "g.2112998A>G" "" "" "" "TSC2(NM_000548.5):c.1387A>G (p.I463V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062997A>G" "" "likely benign" "" "0000247396" "0" "30" "16" "2127634" "2127634" "subst" "9.753E-5" "02330" "TSC2_001232" "g.2127634A>G" "" "" "" "TSC2(NM_000548.5):c.2873A>G (p.N958S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077633A>G" "" "likely benign" "" "0000248110" "0" "30" "16" "2127595" "2127595" "subst" "0.0008537" "02325" "TSC2_000488" "g.2127595A>G" "" "" "" "TSC2(NM_000548.5):c.2838-4A>G, TSC2(NM_001114382.2):c.2838-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077594A>G" "" "likely benign" "" "0000248169" "0" "50" "16" "2105523" "2105523" "subst" "0" "02325" "TSC2_002127" "g.2105523A>G" "" "" "" "TSC2(NM_000548.3):c.599+3A>G, TSC2(NM_000548.5):c.599+3A>G, TSC2(NM_001370404.1):c.599+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055522A>G" "" "VUS" "" "0000248181" "0" "10" "16" "2138218" "2138218" "subst" "0.19978" "02325" "TSC2_000336" "g.2138218A>C" "" "" "" "PKD1(NM_001009944.3):c.*1510T>G, TSC2(NM_000548.3):c.5161-10A>C, TSC2(NM_000548.5):c.5161-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088217A>C" "" "benign" "" "0000249399" "0" "30" "16" "2121839" "2121839" "subst" "0" "02325" "TSC2_003785" "g.2121839A>G" "" "" "" "TSC2(NM_000548.5):c.2001A>G (p.T667=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071838A>G" "" "likely benign" "" "0000249461" "0" "30" "16" "2114403" "2114403" "subst" "2.4376E-5" "02325" "TSC2_000218" "g.2114403A>G" "" "" "" "TSC2(NM_000548.5):c.1574A>G (p.N525S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064402A>G" "" "likely benign" "" "0000249827" "0" "50" "16" "2104424" "2104424" "subst" "8.1213E-6" "02325" "TSC2_001306" "g.2104424A>G" "" "" "" "TSC2(NM_000548.5):c.464A>G (p.Y155C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054423A>G" "" "VUS" "" "0000249930" "0" "30" "16" "2103392" "2103392" "subst" "0.00100189" "02329" "TSC2_000963" "g.2103392A>T" "" "" "" "TSC2(NM_000548.3):c.275A>T (p.(Glu92Val), p.E92V), TSC2(NM_000548.5):c.275A>T (p.E92V), TSC2(NM_001114382.2):c.275A>T (p.E92V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053391A>T" "" "likely benign" "" "0000249939" "0" "30" "16" "2130325" "2130325" "subst" "0.0001549" "02329" "TSC2_001014" "g.2130325A>G" "" "" "" "TSC2(NM_000548.3):c.3557A>G (p.Y1186C), TSC2(NM_000548.5):c.3557A>G (p.Y1186C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080324A>G" "" "likely benign" "" "0000250563" "0" "50" "16" "2125830" "2125830" "subst" "0" "02329" "TSC2_003845" "g.2125830A>C" "" "" "" "TSC2(NM_000548.5):c.2576A>C (p.N859T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075829A>C" "" "VUS" "" "0000250884" "0" "10" "16" "2138218" "2138218" "subst" "0.19978" "02326" "TSC2_000336" "g.2138218A>C" "" "" "" "PKD1(NM_001009944.3):c.*1510T>G, TSC2(NM_000548.3):c.5161-10A>C, TSC2(NM_000548.5):c.5161-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088217A>C" "" "benign" "" "0000253154" "0" "10" "16" "2103392" "2103392" "subst" "0.00100189" "01943" "TSC2_000963" "g.2103392A>T" "" "" "" "TSC2(NM_000548.3):c.275A>T (p.(Glu92Val), p.E92V), TSC2(NM_000548.5):c.275A>T (p.E92V), TSC2(NM_001114382.2):c.275A>T (p.E92V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053391A>T" "" "benign" "" "0000253163" "0" "10" "16" "2130325" "2130325" "subst" "0.0001549" "01943" "TSC2_001014" "g.2130325A>G" "" "" "" "TSC2(NM_000548.3):c.3557A>G (p.Y1186C), TSC2(NM_000548.5):c.3557A>G (p.Y1186C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080324A>G" "" "benign" "" "0000253482" "0" "10" "16" "2115576" "2115576" "subst" "2.44377E-5" "01943" "TSC2_002350" "g.2115576A>G" "" "" "" "TSC2(NM_000548.3):c.1656A>G (p.A552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065575A>G" "" "benign" "" "0000253573" "0" "10" "16" "2115628" "2115628" "subst" "0" "01943" "TSC2_002351" "g.2115628A>G" "" "" "" "TSC2(NM_000548.3):c.1708A>G (p.I570V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065627A>G" "" "benign" "" "0000253581" "0" "10" "16" "2134640" "2134640" "subst" "0" "01943" "TSC2_002384" "g.2134640A>C" "" "" "" "TSC2(NM_000548.3):c.4417A>C (p.K1473Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084639A>C" "" "benign" "" "0000253625" "0" "10" "16" "2108755" "2108755" "subst" "0.00180267" "01943" "TSC2_000160" "g.2108755A>G" "" "" "" "TSC2(NM_000548.3):c.856A>G (p.M286V), TSC2(NM_000548.5):c.856A>G (p.M286V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058754A>G" "" "benign" "" "0000253658" "0" "10" "16" "2140010" "2140010" "subst" "0.187805" "01943" "PKD1_000778" "g.2140010A>G" "" "" "" "PKD1(NM_001009944.2):c.12630T>C (p.P4210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2090009A>G" "" "benign" "" "0000253723" "0" "10" "16" "2138550" "2138550" "subst" "0" "01943" "TSC2_002406" "g.2138550A>T" "" "" "" "TSC2(NM_000548.3):c.5363A>T (p.Y1788F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088549A>T" "" "benign" "" "0000253890" "0" "10" "16" "2122822" "2122822" "subst" "0.0258757" "01943" "TSC2_000444" "g.2122822A>G" "" "" "" "TSC2(NM_000548.3):c.2221-28A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072821A>G" "" "benign" "" "0000253891" "0" "10" "16" "2127595" "2127595" "subst" "0" "01943" "TSC2_002366" "g.2127595A>C" "" "" "" "TSC2(NM_000548.3):c.2838-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077594A>C" "" "benign" "" "0000253892" "0" "10" "16" "2129247" "2129247" "subst" "0.000822014" "01943" "TSC2_000240" "g.2129247A>G" "" "" "" "TSC2(NM_000548.3):c.3132-30A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079246A>G" "" "benign" "" "0000253893" "0" "10" "16" "2135151" "2135151" "subst" "0" "01943" "TSC2_002388" "g.2135151A>G" "" "" "" "TSC2(NM_000548.3):c.4570-80A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085150A>G" "" "benign" "" "0000253894" "0" "10" "16" "2136477" "2136477" "del" "0" "01943" "TSC2_002293" "g.2136477del" "" "" "" "TSC2(NM_000548.3):c.4849+97delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086476del" "" "benign" "" "0000254100" "0" "30" "16" "2127595" "2127595" "subst" "0.0008537" "01943" "TSC2_000488" "g.2127595A>G" "" "" "" "TSC2(NM_000548.5):c.2838-4A>G, TSC2(NM_001114382.2):c.2838-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077594A>G" "" "likely benign" "" "0000255301" "0" "30" "16" "2100505" "2100505" "subst" "8.14963E-6" "01943" "TSC2_003591" "g.2100505A>G" "" "" "" "TSC2(NM_000548.3):c.225+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050504A>G" "" "likely benign" "" "0000255302" "0" "30" "16" "2129495" "2129495" "subst" "0" "01943" "TSC2_002233" "g.2129495A>G" "" "" "" "TSC2(NM_000548.3):c.3285-63A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079494A>G" "" "likely benign" "" "0000255417" "0" "90" "16" "2111970" "2111970" "subst" "0" "01943" "TSC2_003602" "g.2111970A>G" "" "" "" "TSC2(NM_000548.3):c.1218A>G (p.R406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2061969A>G" "" "pathogenic" "" "0000255426" "0" "90" "16" "2135265" "2135265" "subst" "0" "01943" "TSC2_002008" "g.2135265A>C" "" "" "" "TSC2(NM_000548.3):c.4604A>C (p.D1535A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085264A>C" "" "pathogenic" "" "0000255440" "0" "90" "16" "2111987" "2111987" "subst" "0" "01943" "TSC2_001092" "g.2111987A>T" "" "" "" "TSC2(NM_000548.3):c.1235A>T (p.E412V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2061986A>T" "" "pathogenic" "" "0000255454" "0" "90" "16" "2107164" "2107164" "subst" "0" "01943" "TSC2_002138" "g.2107164A>C" "" "" "" "TSC2(NM_000548.3):c.833A>C (p.H278P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2057163A>C" "" "pathogenic" "" "0000255465" "0" "90" "16" "2126106" "2126106" "del" "0" "01943" "TSC2_002215" "g.2126106del" "" "" "" "TSC2(NM_000548.3):c.2677delA (p.I893*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076105del" "" "pathogenic" "" "0000255468" "0" "90" "16" "2098650" "2098650" "subst" "0" "01943" "TSC2_000047" "g.2098650A>T" "" "" "" "TSC2(NM_000548.3):c.34A>T (p.K12*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048649A>T" "" "pathogenic" "" "0000255477" "0" "90" "16" "2136795" "2136795" "subst" "0" "01943" "TSC2_003629" "g.2136795A>T" "" "" "" "TSC2(NM_000548.3):c.4912A>T (p.K1638*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086794A>T" "" "pathogenic" "" "0000255509" "0" "90" "16" "2098635" "2098635" "subst" "0" "01943" "TSC2_002109" "g.2098635A>T" "" "" "" "TSC2(NM_000548.3):c.19A>T (p.K7*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048634A>T" "" "pathogenic" "" "0000255553" "0" "90" "16" "2131656" "2131656" "del" "0" "01943" "TSC2_003620" "g.2131656del" "" "" "" "TSC2(NM_000548.3):c.3671delA (p.N1224Tfs*101)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081655del" "" "pathogenic" "" "0000255558" "0" "90" "16" "2136811" "2136811" "subst" "0" "01943" "TSC2_002026" "g.2136811A>G" "" "" "" "TSC2(NM_000548.3):c.4928A>G (p.N1643S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086810A>G" "" "pathogenic" "" "0000255559" "0" "90" "16" "2136835" "2136835" "subst" "0" "01943" "TSC2_000030" "g.2136835A>G" "" "" "" "TSC2(NM_000548.3):c.4952A>G (p.N1651S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086834A>G" "" "pathogenic" "" "0000255561" "0" "90" "16" "2138259" "2138259" "del" "0" "01943" "TSC2_002403" "g.2138259del" "" "" "" "TSC2(NM_000548.3):c.5192delA (p.N1731Tfs*95)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088258del" "" "pathogenic" "" "0000255583" "0" "90" "16" "2137931" "2137931" "subst" "0" "01943" "TSC2_002027" "g.2137931A>C" "" "" "" "TSC2(NM_000548.3):c.5057A>C (p.Q1686P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087930A>C" "" "pathogenic" "" "0000255586" "0" "90" "16" "2110813" "2110813" "subst" "0" "01943" "TSC2_001999" "g.2110813A>C" "" "" "" "TSC2(NM_000548.3):c.1118A>C (p.Q373P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060812A>C" "" "pathogenic" "" "0000255587" "0" "90" "16" "2114337" "2114337" "del" "0" "01943" "TSC2_002165" "g.2114337del" "" "" "" "TSC2(NM_000548.3):c.1508delA (p.Q503Rfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064336del" "" "pathogenic" "" "0000255600" "0" "90" "16" "2098752" "2098752" "subst" "0" "01943" "TSC2_000962" "g.2098752A>T" "" "" "" "TSC2(NM_000548.3):c.136A>T (p.R46*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048751A>T" "" "pathogenic" "" "0000255622" "0" "90" "16" "2130375" "2130375" "subst" "0" "01943" "TSC2_002242" "g.2130375A>C" "" "" "" "TSC2(NM_000548.3):c.3607A>C (p.T1203P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080374A>C" "" "pathogenic" "" "0000255667" "0" "90" "16" "2120533" "2120533" "subst" "0" "01943" "TSC2_000421" "g.2120533A>G" "" "" "" "TSC2(NM_000548.3):c.1793A>G (p.Y598C), TSC2(NM_000548.5):c.1793A>G (p.Y598C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070532A>G" "" "pathogenic" "" "0000255700" "0" "90" "16" "2104295" "2104295" "subst" "0" "01943" "TSC2_002116" "g.2104295A>G" "" "" "" "TSC2(NM_000548.3):c.337-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054294A>G" "" "pathogenic" "" "0000255701" "0" "90" "16" "2104295" "2104295" "subst" "0" "01943" "TSC2_002117" "g.2104295A>T" "" "" "" "TSC2(NM_000548.3):c.337-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054294A>T" "" "pathogenic" "" "0000255702" "0" "90" "16" "2106195" "2106195" "subst" "0" "01943" "TSC2_000335" "g.2106195A>G" "" "" "" "TSC2(NM_000548.3):c.600-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056194A>G" "" "pathogenic" "" "0000255703" "0" "90" "16" "2112971" "2112971" "subst" "0" "01943" "TSC2_000310" "g.2112971A>G" "" "" "" "TSC2(NM_000548.3):c.1362-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062970A>G" "" "pathogenic" "" "0000255704" "0" "90" "16" "2114271" "2114271" "subst" "0" "01943" "TSC2_000003" "g.2114271A>G" "" "" "" "TSC2(NM_000548.3):c.1444-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064270A>G" "" "pathogenic" "" "0000255705" "0" "90" "16" "2121509" "2121509" "subst" "0" "01943" "TSC2_002184" "g.2121509A>G" "" "" "" "TSC2(NM_000548.3):c.1840-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071508A>G" "" "pathogenic" "" "0000255706" "0" "90" "16" "2122240" "2122240" "subst" "0" "01943" "TSC2_000438" "g.2122240A>G" "" "" "" "TSC2(NM_000548.3):c.2098-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072239A>G" "" "pathogenic" "" "0000255707" "0" "90" "16" "2122848" "2122848" "subst" "0" "01943" "TSC2_000446" "g.2122848A>G" "" "" "" "TSC2(NM_000548.3):c.2221-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072847A>G" "" "pathogenic" "" "0000255708" "0" "90" "16" "2124199" "2124199" "subst" "0" "01943" "TSC2_000203" "g.2124199A>C" "" "" "" "TSC2(NM_000548.3):c.2356-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074198A>C" "" "pathogenic" "" "0000255709" "0" "90" "16" "2126490" "2126490" "subst" "0" "01943" "TSC2_000482" "g.2126490A>G" "" "" "" "TSC2(NM_000548.3):c.2743-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076489A>G" "" "pathogenic" "" "0000255710" "0" "90" "16" "2134227" "2134227" "subst" "0" "01943" "TSC2_002254" "g.2134227A>G" "" "" "" "TSC2(NM_000548.3):c.4006-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084226A>G" "" "pathogenic" "" "0000255711" "0" "90" "16" "2134950" "2134950" "subst" "0" "01943" "TSC2_002386" "g.2134950A>C" "" "" "" "TSC2(NM_000548.3):c.4494-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084949A>C" "" "pathogenic" "" "0000255712" "0" "90" "16" "2136731" "2136731" "subst" "0" "01943" "TSC2_002295" "g.2136731A>G" "" "" "" "TSC2(NM_000548.3):c.4850-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086730A>G" "" "pathogenic" "" "0000255713" "0" "90" "16" "2138047" "2138047" "subst" "0" "01943" "TSC2_000006" "g.2138047A>G" "" "" "" "TSC2(NM_000548.3):c.5069-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088046A>G" "" "pathogenic" "" "0000255807" "0" "50" "16" "2105523" "2105523" "subst" "0" "01943" "TSC2_002127" "g.2105523A>G" "" "" "" "TSC2(NM_000548.3):c.599+3A>G, TSC2(NM_000548.5):c.599+3A>G, TSC2(NM_001370404.1):c.599+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055522A>G" "" "VUS" "" "0000256168" "0" "50" "16" "2110747" "2110747" "subst" "4.06197E-6" "01943" "TSC2_001318" "g.2110747A>G" "" "" "" "TSC2(NM_000548.3):c.1052A>G (p.K351R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060746A>G" "" "VUS" "" "0000256204" "0" "50" "16" "2126583" "2126583" "subst" "0" "01943" "TSC2_003874" "g.2126583A>G" "" "" "" "TSC2(NM_000548.3):c.2834A>G (p.K945R, p.(Lys945Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076582A>G" "" "VUS" "" "0000256718" "0" "50" "16" "2112953" "2112953" "subst" "0" "01943" "TSC2_001322" "g.2112953A>G" "" "" "" "TSC2(NM_000548.3):c.1362-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062952A>G" "" "VUS" "" "0000256719" "0" "50" "16" "2122367" "2122367" "subst" "0" "01943" "TSC2_002202" "g.2122367A>C" "" "" "" "TSC2(NM_000548.3):c.2220+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072366A>C" "" "VUS" "" "0000293267" "0" "30" "16" "2097861" "2097861" "subst" "8.50221E-5" "02330" "NTHL1_000257" "g.2097861T>C" "" "" "" "NTHL1(NM_002528.7):c.-37A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2047860T>C" "" "likely benign" "" "0000293268" "0" "30" "16" "2089906" "2089906" "subst" "0.000196507" "02330" "NTHL1_000002" "g.2089906G>A" "" "" "" "NTHL1(NM_002528.7):c.*19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2039905G>A" "" "likely benign" "" "0000293269" "0" "10" "16" "2097712" "2097712" "subst" "0.000763196" "02330" "NTHL1_000231" "g.2097712G>A" "" "" "" "NTHL1(NM_002528.7):c.113C>T (p.A38V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2047711G>A" "" "benign" "" "0000293270" "0" "10" "16" "2097693" "2097693" "subst" "0.000348517" "02330" "NTHL1_000255" "g.2097693C>T" "" "" "" "NTHL1(NM_002528.7):c.115+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2047692C>T" "" "benign" "" "0000293271" "0" "10" "16" "2096384" "2096384" "subst" "0.0026114" "02330" "NTHL1_000008" "g.2096384G>A" "" "" "" "NTHL1(NM_002528.7):c.116-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2046383G>A" "" "benign" "" "0000293272" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "02330" "NTHL1_000001" "g.2096239G>A" "" "" "" "NTHL1(NM_001318193.1):c.268C>T (p.(Gln90Ter)), NTHL1(NM_002528.7):c.244C>T (p.Q82*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2046238G>A" "" "pathogenic" "" "0000293273" "0" "30" "16" "2093743" "2093743" "subst" "2.05866E-5" "02330" "NTHL1_000004" "g.2093743G>C" "" "" "" "NTHL1(NM_002528.7):c.526-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2043742G>C" "" "likely benign" "" "0000293780" "0" "10" "16" "2138584" "2138584" "subst" "0.0733337" "02330" "TSC2_000002" "g.2138584G>C" "" "" "" "PKD1(NM_001009944.3):c.*1144C>G, TSC2(NM_000548.3):c.5397G>C (p.S1799=), TSC2(NM_000548.5):c.5397G>C (p.S1799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088583G>C" "" "benign" "" "0000293781" "0" "10" "16" "2138546" "2138546" "subst" "0.0022029" "02330" "TSC2_000301" "g.2138546G>A" "" "" "" "PKD1(NM_001009944.3):c.*1182C>T, TSC2(NM_000548.3):c.5359G>A (p.G1787S, p.(Gly1787Ser)), TSC2(NM_000548.5):c.5359G>A (p.G1787S), TSC2(NM_001114382...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088545G>A" "" "benign" "" "0000293782" "0" "30" "16" "2138533" "2138533" "subst" "4.89736E-5" "02330" "TSC2_004201" "g.2138533C>T" "" "" "" "PKD1(NM_001009944.3):c.*1195G>A, TSC2(NM_000548.5):c.5346C>T (p.A1782=), TSC2(NM_001114382.2):c.5277C>T (p.A1759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088532C>T" "" "likely benign" "" "0000293783" "0" "30" "16" "2138495" "2138495" "subst" "2.03553E-5" "02330" "TSC2_003255" "g.2138495C>T" "" "" "" "PKD1(NM_001009944.3):c.*1233G>A, TSC2(NM_000548.5):c.5308C>T (p.P1770S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088494C>T" "" "likely benign" "" "0000293784" "0" "30" "16" "2138432" "2138432" "subst" "0.00153203" "02330" "TSC2_000338" "g.2138432C>T" "" "" "" "PKD1(NM_001009944.3):c.*1296G>A, TSC2(NM_000548.3):c.5260-15C>T, TSC2(NM_000548.5):c.5260-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088431C>T" "" "likely benign" "" "0000293785" "0" "10" "16" "2138269" "2138269" "subst" "0.178282" "02330" "TSC2_000001" "g.2138269T>C" "" "" "" "PKD1(NM_001009944.3):c.*1459A>G, TSC2(NM_000548.3):c.5202T>C (p.D1734=), TSC2(NM_000548.5):c.5202T>C (p.D1734=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088268T>C" "" "benign" "" "0000293786" "0" "30" "16" "2138097" "2138097" "subst" "7.32625E-5" "02330" "TSC2_000944" "g.2138097G>A" "" "" "" "PKD1(NM_001009944.3):c.*1631C>T, TSC2(NM_000548.5):c.5117G>A (p.R1706H), TSC2(NM_001114382.2):c.5048G>A (p.R1683H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088096G>A" "" "likely benign" "" "0000293787" "0" "30" "16" "2137969" "2138002" "del" "0" "02330" "TSC2_000144" "g.2137969_2138002del" "" "" "" "PKD1(NM_001009944.3):c.*1770_*1803del, TSC2(NM_000548.3):c.5051_5068+16del, TSC2(NM_000548.3):c.5068+27_5069-47del (p.(=)), TSC2(NM_000548.5):c.505..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087968_2088001del" "" "likely benign" "" "0000296987" "0" "50" "16" "2138252" "2138252" "subst" "9.7588E-5" "02325" "TSC2_000659" "g.2138252C>T" "" "" "" "PKD1(NM_001009944.3):c.*1476G>A, TSC2(NM_000548.5):c.5185C>T (p.R1729C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088251C>T" "" "VUS" "" "0000298878" "0" "50" "16" "2139814" "2139814" "subst" "0.00377645" "02329" "PKD1_001189" "g.2139814G>A" "" "" "" "PKD1(NM_000296.3):c.12823C>T (p.(Arg4275Trp)), PKD1(NM_001009944.2):c.12826C>T (p.R4276W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2089813G>A" "" "VUS" "" "0000300796" "0" "10" "16" "2142113" "2142113" "subst" "0.00470186" "02326" "PKD1_000815" "g.2142113G>A" "" "" "" "PKD1(NM_000296.3):c.11343C>T (p.(Asp3781=)), PKD1(NM_000296.4):c.11343C>T (p.D3781=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2092112G>A" "" "benign" "" "0000300798" "0" "90" "16" "2141583" "2141583" "del" "0" "02326" "PKD1_000767" "g.2141583del" "" "" "" "PKD1(NM_001009944.2):c.11554delC (p.L3852Wfs*93)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2091582del" "" "pathogenic" "" "0000300801" "0" "10" "16" "2141171" "2141171" "subst" "0.00106505" "02326" "PKD1_000812" "g.2141171C>A" "" "" "" "PKD1(NM_000296.3):c.11714G>T (p.(Cys3905Phe)), PKD1(NM_001009944.2):c.11717G>T (p.C3906F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2091170C>A" "" "benign" "" "0000300802" "0" "90" "16" "2140431" "2140431" "del" "0" "02326" "PKD1_000809" "g.2140431del" "" "" "" "PKD1(NM_000296.4):c.12297delG (p.L4100Wfs*97)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2090430del" "" "pathogenic" "" "0000300803" "0" "30" "16" "2140321" "2140321" "subst" "0.0666581" "02326" "PKD1_000779" "g.2140321G>A" "" "" "" "PKD1(NM_000296.4):c.12406C>T (p.L4136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2090320G>A" "" "likely benign" "" "0000300804" "0" "10" "16" "2140294" "2140294" "subst" "0.0045433" "02326" "PKD1_000530" "g.2140294C>T" "" "" "" "PKD1(NM_000296.3):c.12433G>A (p.(Val4145Ile)), PKD1(NM_000296.4):c.12433G>A (p.V4145I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2090293C>T" "" "benign" "" "0000304654" "0" "50" "16" "2096209" "2096209" "subst" "0.000934762" "01943" "NTHL1_000006" "g.2096209G>A" "" "" "" "NTHL1(NM_002528.7):c.274C>T (p.R92C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2046208G>A" "" "VUS" "" "0000305705" "0" "30" "16" "2141018" "2141018" "subst" "0.000614917" "01943" "PKD1_000567" "g.2141018C>T" "" "" "" "PKD1(NM_001009944.2):c.11870G>A (p.G3957D, p.(Gly3957Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2091017C>T" "" "likely benign" "" "0000305706" "0" "30" "16" "2140912" "2140912" "subst" "0.00297528" "01943" "PKD1_000810" "g.2140912G>C" "" "" "" "PKD1(NM_000296.3):c.11973C>G (p.(Ala3991=)), PKD1(NM_001009944.2):c.11976C>G (p.A3992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2090911G>C" "" "likely benign" "" "0000305708" "0" "10" "16" "2139814" "2139814" "subst" "0.00377645" "01943" "PKD1_001189" "g.2139814G>A" "" "" "" "PKD1(NM_000296.3):c.12823C>T (p.(Arg4275Trp)), PKD1(NM_001009944.2):c.12826C>T (p.R4276W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2089813G>A" "" "benign" "" "0000309631" "0" "10" "16" "2110795" "2110795" "subst" "0.0138783" "02330" "TSC2_000163" "g.2110795G>A" "" "" "" "TSC2(NM_000548.3):c.1100G>A (p.R367Q, p.(Arg367Gln)), TSC2(NM_000548.5):c.1100G>A (p.R367Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060794G>A" "" "benign" "" "0000309632" "0" "10" "16" "2110805" "2110805" "subst" "0.0100457" "02330" "TSC2_000164" "g.2110805G>A" "" "" "" "TSC2(NM_000548.3):c.1110G>A (p.Q370=), TSC2(NM_000548.5):c.1110G>A (p.Q370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060804G>A" "" "benign" "" "0000309633" "0" "30" "16" "2111895" "2111895" "subst" "0.000324971" "02330" "TSC2_000124" "g.2111895G>A" "" "" "" "TSC2(NM_000548.3):c.1143G>A (p.(Arg381=)), TSC2(NM_000548.5):c.1143G>A (p.R381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2061894G>A" "" "likely benign" "" "0000309634" "0" "10" "16" "2112516" "2112516" "subst" "0.00118043" "02330" "TSC2_000063" "g.2112516C>T" "" "" "" "TSC2(NM_000548.3):c.1276C>T (p.L426=), TSC2(NM_000548.5):c.1276C>T (p.L426=, p.(Leu426=)), TSC2(NM_001114382.2):c.1276C>T (p.L426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062515C>T" "" "benign" "" "0000309635" "0" "30" "16" "2112521" "2112521" "subst" "0.00171838" "02330" "TSC2_000064" "g.2112521C>A" "" "" "" "TSC2(NM_000548.3):c.1281C>A (p.I427=, p.(Ile427=)), TSC2(NM_000548.5):c.1281C>A (p.I427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062520C>A" "" "likely benign" "" "0000309636" "0" "30" "16" "2112558" "2112558" "subst" "0.000718652" "02330" "TSC2_000167" "g.2112558G>A" "" "" "" "TSC2(NM_000548.3):c.1318G>A (p.G440S, p.(Gly440Ser)), TSC2(NM_000548.5):c.1318G>A (p.G440S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062557G>A" "" "likely benign" "" "0000309637" "0" "10" "16" "2114372" "2114372" "subst" "0.00193365" "02330" "TSC2_002346" "g.2114372C>T" "" "" "" "TSC2(NM_000548.3):c.1543C>T (p.L515=), TSC2(NM_000548.5):c.1543C>T (p.L515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064371C>T" "" "benign" "" "0000309638" "0" "10" "16" "2114407" "2114407" "subst" "0.0574263" "02330" "TSC2_000005" "g.2114407C>T" "" "" "" "TSC2(NM_000548.3):c.1578C>T (p.S526=), TSC2(NM_000548.5):c.1578C>T (p.S526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064406C>T" "" "benign" "" "0000309639" "0" "10" "16" "2115506" "2115506" "subst" "0.0568299" "02330" "TSC2_000176" "g.2115506C>T" "" "" "" "TSC2(NM_000548.3):c.1600-14C>T, TSC2(NM_000548.5):c.1600-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065505C>T" "" "benign" "" "0000309640" "0" "30" "16" "2120585" "2120585" "subst" "0.000432311" "02330" "TSC2_000425" "g.2120585G>A" "" "" "" "TSC2(NM_000548.3):c.1839+6G>A, TSC2(NM_000548.5):c.1839+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070584G>A" "" "likely benign" "" "0000309641" "0" "10" "16" "2121869" "2121869" "subst" "0.00250745" "02330" "TSC2_000191" "g.2121869C>T" "" "" "" "TSC2(NM_000548.3):c.2031C>T (p.P677=, p.(Pro677=)), TSC2(NM_000548.5):c.2031C>T (p.P677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071868C>T" "" "benign" "" "0000309642" "0" "30" "16" "2122860" "2122860" "subst" "0" "02330" "TSC2_002682" "g.2122860C>G" "" "" "" "TSC2(NM_000548.5):c.2231C>G (p.P744R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072859C>G" "" "likely benign" "" "0000309643" "0" "10" "16" "2103345" "2103345" "subst" "0.00332754" "02330" "TSC2_000035" "g.2103345C>T" "" "" "" "TSC2(NM_000548.5):c.228C>T (p.H76=), TSC2(NM_001114382.2):c.228C>T (p.H76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053344C>T" "" "benign" "" "0000309644" "0" "30" "16" "2124321" "2124321" "subst" "0.000663497" "02330" "TSC2_000132" "g.2124321C>A" "" "" "" "TSC2(NM_000548.3):c.2476C>A (p.L826M), TSC2(NM_000548.5):c.2476C>A (p.L826M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074320C>A" "" "likely benign" "" "0000309645" "0" "10" "16" "2125788" "2125788" "subst" "0.0948179" "02330" "TSC2_000312" "g.2125788C>T" "" "" "" "TSC2(NM_000548.3):c.2546-12C>T, TSC2(NM_000548.5):c.2546-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075787C>T" "" "benign" "" "0000309646" "0" "30" "16" "2103372" "2103372" "subst" "0.0011761" "02330" "TSC2_000074" "g.2103372C>T" "" "" "" "TSC2(NM_000548.3):c.255C>T (p.(Val85=)), TSC2(NM_000548.5):c.255C>T (p.V85=), TSC2(NM_001114382.2):c.255C>T (p.V85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053371C>T" "" "likely benign" "" "0000309647" "0" "10" "16" "2125834" "2125834" "subst" "0.0703171" "02330" "TSC2_000054" "g.2125834T>C" "" "" "" "TSC2(NM_000548.3):c.2580T>C (p.F860=), TSC2(NM_000548.5):c.2580T>C (p.F860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075833T>C" "" "benign" "" "0000309648" "0" "30" "16" "2129045" "2129045" "subst" "0.000863178" "02330" "TSC2_000491" "g.2129045G>A" "" "" "" "TSC2(NM_000548.3):c.2979G>A (p.T993=, p.(Thr993=)), TSC2(NM_000548.5):c.2979G>A (p.T993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079044G>A" "" "likely benign" "" "0000309649" "0" "10" "16" "2103417" "2103417" "subst" "0.000133896" "02330" "TSC2_000038" "g.2103417G>A" "" "" "" "TSC2(NM_000548.5):c.300G>A (p.A100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053416G>A" "" "benign" "" "0000309650" "0" "30" "16" "2129103" "2129103" "subst" "4.06765E-6" "02330" "TSC2_000701" "g.2129103G>A" "" "" "" "TSC2(NM_000548.5):c.3037G>A (p.D1013N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079102G>A" "" "likely benign" "" "0000309651" "0" "10" "16" "2130190" "2130190" "subst" "0.00137166" "02330" "TSC2_000515" "g.2130190C>T" "" "" "" "TSC2(NM_000548.3):c.3422C>T (p.A1141V), TSC2(NM_000548.5):c.3422C>T (p.A1141V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080189C>T" "" "benign" "" "0000309652" "0" "30" "16" "2130198" "2130198" "subst" "0.00024421" "02330" "TSC2_001198" "g.2130198G>A" "" "" "" "TSC2(NM_000548.3):c.3430G>A (p.V1144M, p.(Val1144Met)), TSC2(NM_000548.5):c.3430G>A (p.V1144M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080197G>A" "" "likely benign" "" "0000309653" "0" "30" "16" "2130259" "2130259" "subst" "0.000134333" "02330" "TSC2_000519" "g.2130259C>T" "" "" "" "TSC2(NM_000548.3):c.3491C>T (p.A1164V), TSC2(NM_000548.5):c.3491C>T (p.A1164V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080258C>T" "" "likely benign" "" "0000309654" "0" "30" "16" "2130368" "2130368" "subst" "1.23132E-5" "02330" "TSC2_003177" "g.2130368G>A" "" "" "" "TSC2(NM_000548.5):c.3600G>A (p.R1200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080367G>A" "" "likely benign" "" "0000309655" "0" "30" "16" "2130387" "2130387" "subst" "0.000561737" "02330" "TSC2_000317" "g.2130387C>T" "" "" "" "TSC2(NM_000548.3):c.3610+9C>T, TSC2(NM_000548.5):c.3610+9C>T, TSC2(NM_001114382.2):c.3610+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080386C>T" "" "likely benign" "" "0000309656" "0" "30" "16" "2131732" "2131732" "subst" "9.77891E-5" "02330" "TSC2_003965" "g.2131732G>A" "" "" "" "TSC2(NM_000548.5):c.3747G>A (p.L1249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081731G>A" "" "likely benign" "" "0000309657" "0" "30" "16" "2133701" "2133701" "subst" "0.00281981" "02330" "TSC2_000542" "g.2133701G>A" "" "" "" "TSC2(NM_000548.3):c.3889G>A (p.(Ala1297Thr)), TSC2(NM_000548.5):c.3889G>A (p.A1297T), TSC2(NM_001370404.1):c.3757G>A (p.A1253T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083700G>A" "" "likely benign" "" "0000309658" "0" "10" "16" "2133726" "2133726" "subst" "0.0018471" "02330" "TSC2_000543" "g.2133726C>T" "" "" "" "TSC2(NM_000548.5):c.3914C>T (p.P1305L), TSC2(NM_001114382.2):c.3845C>T (p.P1282L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083725C>T" "" "benign" "" "0000309659" "0" "10" "16" "2133727" "2133727" "subst" "0.00475155" "02330" "TSC2_000091" "g.2133727G>A" "" "" "" "TSC2(NM_000548.3):c.3915G>A (p.P1305=, p.(Pro1305=)), TSC2(NM_000548.5):c.3915G>A (p.P1305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083726G>A" "" "benign" "" "0000309660" "0" "10" "16" "2133798" "2133798" "subst" "0.00532816" "02330" "TSC2_000092" "g.2133798G>A" "" "" "" "TSC2(NM_000548.3):c.3986G>A (p.R1329H, p.(Arg1329His)), TSC2(NM_000548.5):c.3986G>A (p.R1329H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083797G>A" "" "benign" "" "0000309661" "0" "10" "16" "2134221" "2134221" "subst" "0.00247118" "02330" "TSC2_000917" "g.2134221C>T" "" "" "" "TSC2(NM_000548.3):c.4006-8C>T, TSC2(NM_000548.5):c.4006-8C>T, TSC2(NM_001114382.2):c.3937-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084220C>T" "" "benign" "" "0000309662" "0" "30" "16" "2134313" "2134313" "subst" "0" "02330" "TSC2_003999" "g.2134313T>A" "" "" "" "TSC2(NM_000548.5):c.4090T>A (p.S1364T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084312T>A" "" "likely benign" "" "0000309663" "0" "10" "16" "2134438" "2134438" "subst" "0.00890403" "02330" "TSC2_000946" "g.2134438C>T" "" "" "" "TSC2(NM_000548.3):c.4215C>T (p.A1405=, p.(Ala1405=)), TSC2(NM_000548.5):c.4215C>T (p.A1405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084437C>T" "" "benign" "" "0000309664" "0" "10" "16" "2134492" "2134492" "subst" "0.00269103" "02330" "TSC2_000570" "g.2134492G>A" "" "" "" "TSC2(NM_000548.3):c.4269G>A (p.L1423=, p.(Leu1423=)), TSC2(NM_000548.5):c.4269G>A (p.L1423=), TSC2(NM_001370404.1):c.4137G>A (p.L1379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084491G>A" "" "benign" "" "0000309665" "0" "10" "16" "2134508" "2134508" "subst" "0.00277811" "02330" "TSC2_000572" "g.2134508G>T" "" "" "" "TSC2(NM_000548.3):c.4285G>T (p.A1429S), TSC2(NM_000548.5):c.4285G>T (p.A1429S, p.(Ala1429Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084507G>T" "" "benign" "" "0000309666" "0" "10" "16" "2134985" "2134987" "del" "0" "02330" "TSC2_000017" "g.2134985_2134987del" "" "" "" "TSC2(NM_000548.3):c.4527_4529del (p.(Phe1510del)), TSC2(NM_000548.3):c.4527_4529delCTT (p.F1510del), TSC2(NM_000548.5):c.4527_4529delCTT (p.F1510d...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084984_2084986del" "" "benign" "" "0000309667" "0" "10" "16" "2134994" "2134994" "subst" "0.00313367" "02330" "TSC2_000018" "g.2134994C>T" "" "" "" "TSC2(NM_000548.3):c.4536C>T (p.D1512=, p.(Asp1512=)), TSC2(NM_000548.5):c.4536C>T (p.D1512=), TSC2(NM_001114382.2):c.4467C>T (p.D1489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084993C>T" "" "benign" "" "0000309668" "0" "10" "16" "2105400" "2105400" "subst" "0.0871488" "02330" "TSC2_000156" "g.2105400C>T" "" "" "" "TSC2(NM_000548.3):c.482-3C>T, TSC2(NM_000548.5):c.482-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055399C>T" "" "benign" "" "0000309669" "0" "10" "16" "2136794" "2136794" "subst" "0.000854337" "02330" "TSC2_000028" "g.2136794G>A" "" "" "" "TSC2(NM_000548.5):c.4911G>A (p.K1637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086793G>A" "" "benign" "" "0000309670" "0" "10" "16" "2136842" "2136842" "subst" "0.00963142" "02330" "TSC2_000031" "g.2136842C>T" "" "" "" "TSC2(NM_000548.3):c.4959C>T (p.S1653=, p.(Ser1653=)), TSC2(NM_000548.5):c.4959C>T (p.S1653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086841C>T" "" "benign" "" "0000309671" "0" "10" "16" "2136866" "2136866" "subst" "0.00524021" "02330" "TSC2_000094" "g.2136866C>T" "" "" "" "TSC2(NM_000548.3):c.4983C>T (p.T1661=, p.(Thr1661=)), TSC2(NM_000548.5):c.4983C>T (p.T1661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086865C>T" "" "benign" "" "0000309680" "0" "30" "16" "2105473" "2105473" "subst" "0.000166483" "02330" "TSC2_001307" "g.2105473C>T" "" "" "" "TSC2(NM_000548.5):c.552C>T (p.V184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055472C>T" "" "likely benign" "" "0000309681" "0" "10" "16" "2106725" "2106725" "subst" "0.00337349" "02330" "TSC2_000122" "g.2106725C>G" "" "" "" "TSC2(NM_000548.3):c.729C>G (p.L243=), TSC2(NM_000548.5):c.729C>G (p.L243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056724C>G" "" "benign" "" "0000309682" "0" "30" "16" "2107094" "2107094" "subst" "2.6846E-5" "02330" "TSC2_001312" "g.2107094T>C" "" "" "" "TSC2(NM_000548.5):c.775-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2057093T>C" "" "likely benign" "" "0000312074" "0" "10" "16" "2098578" "2098578" "subst" "0.000752528" "02325" "TSC2_003022" "g.2098578G>C" "" "" "" "TSC2(NM_000548.3):c.-29-10G>C, TSC2(NM_000548.5):c.-29-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048577G>C" "" "benign" "" "0000312075" "0" "10" "16" "2110795" "2110795" "subst" "0.0138783" "02325" "TSC2_000163" "g.2110795G>A" "" "" "" "TSC2(NM_000548.3):c.1100G>A (p.R367Q, p.(Arg367Gln)), TSC2(NM_000548.5):c.1100G>A (p.R367Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060794G>A" "" "benign" "" "0000312076" "0" "30" "16" "2112558" "2112558" "subst" "0.000718652" "02325" "TSC2_000167" "g.2112558G>A" "" "" "" "TSC2(NM_000548.3):c.1318G>A (p.G440S, p.(Gly440Ser)), TSC2(NM_000548.5):c.1318G>A (p.G440S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062557G>A" "" "likely benign" "" "0000312077" "0" "30" "16" "2098774" "2098774" "subst" "0.000601626" "02325" "TSC2_000342" "g.2098774C>G" "" "" "" "TSC2(NM_000548.3):c.138+20C>G, TSC2(NM_000548.5):c.138+20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048773C>G" "" "likely benign" "" "0000312078" "0" "30" "16" "2121830" "2121830" "subst" "0" "02325" "TSC2_003783" "g.2121830T>C" "" "" "" "TSC2(NM_000548.5):c.1992T>C (p.S664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071829T>C" "" "likely benign" "" "0000312079" "0" "30" "16" "2121833" "2121833" "subst" "0" "02325" "TSC2_003784" "g.2121833T>C" "" "" "" "TSC2(NM_000548.5):c.1995T>C (p.P665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071832T>C" "" "likely benign" "" "0000312080" "0" "10" "16" "2121869" "2121869" "subst" "0.00250745" "02325" "TSC2_000191" "g.2121869C>T" "" "" "" "TSC2(NM_000548.3):c.2031C>T (p.P677=, p.(Pro677=)), TSC2(NM_000548.5):c.2031C>T (p.P677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071868C>T" "" "benign" "" "0000312081" "0" "50" "16" "2121877" "2121877" "subst" "1.87933E-5" "02325" "TSC2_003789" "g.2121877G>A" "" "" "" "TSC2(NM_000548.5):c.2039G>A (p.R680Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071876G>A" "" "VUS" "" "0000312082" "0" "30" "16" "2122380" "2122380" "subst" "0" "02325" "TSC2_003808" "g.2122380T>G" "" "" "" "TSC2(NM_000548.5):c.2220+16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072379T>G" "" "likely benign" "" "0000312083" "0" "10" "16" "2103345" "2103345" "subst" "0.00332754" "02325" "TSC2_000035" "g.2103345C>T" "" "" "" "TSC2(NM_000548.5):c.228C>T (p.H76=), TSC2(NM_001114382.2):c.228C>T (p.H76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053344C>T" "" "benign" "" "0000312084" "0" "90" "16" "2126142" "2126142" "subst" "0" "02325" "TSC2_000110" "g.2126142C>T" "" "" "" "TSC2(NM_000548.3):c.2713C>T (p.R905W), TSC2(NM_000548.5):c.2713C>T (p.R905W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076141C>T" "" "pathogenic" "" "0000312085" "0" "30" "16" "2103389" "2103389" "subst" "0.000903667" "02325" "TSC2_000346" "g.2103389C>T" "" "" "" "TSC2(NM_000548.3):c.272C>T (p.P91L), TSC2(NM_000548.5):c.272C>T (p.P91L), TSC2(NM_001370404.1):c.272C>T (p.P91L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053388C>T" "" "likely benign" "" "0000312086" "0" "30" "16" "2129045" "2129045" "subst" "0.000863178" "02325" "TSC2_000491" "g.2129045G>A" "" "" "" "TSC2(NM_000548.3):c.2979G>A (p.T993=, p.(Thr993=)), TSC2(NM_000548.5):c.2979G>A (p.T993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079044G>A" "" "likely benign" "" "0000312087" "0" "50" "16" "2129668" "2129668" "subst" "0" "02325" "TSC2_003931" "g.2129668C>T" "" "" "" "TSC2(NM_000548.5):c.3395C>T (p.S1132L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079667C>T" "" "VUS" "" "0000312088" "0" "30" "16" "2131753" "2131753" "subst" "3.26227E-5" "02325" "TSC2_003968" "g.2131753G>A" "" "" "" "TSC2(NM_000548.5):c.3768G>A (p.P1256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081752G>A" "" "likely benign" "" "0000312089" "0" "30" "16" "2134492" "2134492" "subst" "0.00269103" "02325" "TSC2_000570" "g.2134492G>A" "" "" "" "TSC2(NM_000548.3):c.4269G>A (p.L1423=, p.(Leu1423=)), TSC2(NM_000548.5):c.4269G>A (p.L1423=), TSC2(NM_001370404.1):c.4137G>A (p.L1379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084491G>A" "" "likely benign" "" "0000312090" "0" "50" "16" "2134631" "2134631" "subst" "4.25648E-5" "02325" "TSC2_004037" "g.2134631C>T" "" "" "" "TSC2(NM_000548.5):c.4408C>T (p.R1470C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084630C>T" "" "VUS" "" "0000312092" "0" "30" "16" "2138570" "2138570" "subst" "0.00148943" "02325" "TSC2_000666" "g.2138570C>T" "" "" "" "TSC2(NM_000548.3):c.5383C>T (p.R1795C, p.(Arg1795Cys)), TSC2(NM_000548.5):c.5383C>T (p.R1795C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088569C>T" "" "likely benign" "" "0000312093" "0" "30" "16" "2108887" "2108887" "subst" "0.000462771" "02325" "TSC2_002144" "g.2108887C>T" "" "" "" "TSC2(NM_000548.3):c.975+13C>T, TSC2(NM_000548.5):c.975+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058886C>T" "" "likely benign" "" "0000313527" "0" "10" "16" "2110795" "2110795" "subst" "0.0138783" "02329" "TSC2_000163" "g.2110795G>A" "" "" "" "TSC2(NM_000548.3):c.1100G>A (p.R367Q, p.(Arg367Gln)), TSC2(NM_000548.5):c.1100G>A (p.R367Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060794G>A" "" "benign" "" "0000313528" "0" "10" "16" "2110805" "2110805" "subst" "0.0100457" "02329" "TSC2_000164" "g.2110805G>A" "" "" "" "TSC2(NM_000548.3):c.1110G>A (p.Q370=), TSC2(NM_000548.5):c.1110G>A (p.Q370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060804G>A" "" "benign" "" "0000313529" "0" "30" "16" "2111895" "2111895" "subst" "0.000324971" "02329" "TSC2_000124" "g.2111895G>A" "" "" "" "TSC2(NM_000548.3):c.1143G>A (p.(Arg381=)), TSC2(NM_000548.5):c.1143G>A (p.R381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2061894G>A" "" "likely benign" "" "0000313530" "0" "30" "16" "2112516" "2112516" "subst" "0.00118043" "02329" "TSC2_000063" "g.2112516C>T" "" "" "" "TSC2(NM_000548.3):c.1276C>T (p.L426=), TSC2(NM_000548.5):c.1276C>T (p.L426=, p.(Leu426=)), TSC2(NM_001114382.2):c.1276C>T (p.L426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062515C>T" "" "likely benign" "" "0000313531" "0" "30" "16" "2112521" "2112521" "subst" "0.00171838" "02329" "TSC2_000064" "g.2112521C>A" "" "" "" "TSC2(NM_000548.3):c.1281C>A (p.I427=, p.(Ile427=)), TSC2(NM_000548.5):c.1281C>A (p.I427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062520C>A" "" "likely benign" "" "0000313532" "0" "30" "16" "2112969" "2112969" "subst" "6.77599E-5" "02329" "TSC2_002344" "g.2112969G>A" "" "" "" "TSC2(NM_000548.3):c.1362-4G>A, TSC2(NM_000548.5):c.1362-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062968G>A" "" "likely benign" "" "0000313533" "0" "30" "16" "2113058" "2113058" "subst" "0.000154541" "02329" "TSC2_000698" "g.2113058C>T" "" "" "" "TSC2(NM_000548.3):c.1443+4C>T, TSC2(NM_000548.5):c.1443+4C>T, TSC2(NM_001114382.2):c.1443+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063057C>T" "" "likely benign" "" "0000313534" "0" "30" "16" "2114279" "2114279" "subst" "0" "02329" "TSC2_003712" "g.2114279C>T" "" "" "" "TSC2(NM_000548.5):c.1450C>T (p.L484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064278C>T" "" "likely benign" "" "0000313535" "0" "30" "16" "2121869" "2121869" "subst" "0.00250745" "02329" "TSC2_000191" "g.2121869C>T" "" "" "" "TSC2(NM_000548.3):c.2031C>T (p.P677=, p.(Pro677=)), TSC2(NM_000548.5):c.2031C>T (p.P677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071868C>T" "" "likely benign" "" "0000313536" "0" "30" "16" "2122297" "2122297" "subst" "0.000146267" "02329" "TSC2_000441" "g.2122297G>C" "" "" "" "TSC2(NM_000548.5):c.2153G>C (p.R718P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072296G>C" "" "likely benign" "" "0000313537" "0" "30" "16" "2122380" "2122380" "subst" "8.15288E-6" "02329" "TSC2_003809" "g.2122380T>C" "" "" "" "TSC2(NM_000548.5):c.2220+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072379T>C" "" "likely benign" "" "0000313538" "0" "30" "16" "2103345" "2103345" "subst" "0.00332754" "02329" "TSC2_000035" "g.2103345C>T" "" "" "" "TSC2(NM_000548.5):c.228C>T (p.H76=), TSC2(NM_001114382.2):c.228C>T (p.H76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053344C>T" "" "likely benign" "" "0000313539" "0" "30" "16" "2124321" "2124321" "subst" "0.000663497" "02329" "TSC2_000132" "g.2124321C>A" "" "" "" "TSC2(NM_000548.3):c.2476C>A (p.L826M), TSC2(NM_000548.5):c.2476C>A (p.L826M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074320C>A" "" "likely benign" "" "0000313540" "0" "10" "16" "2103408" "2103408" "subst" "0.000593427" "02329" "TSC2_001304" "g.2103408C>G" "" "" "" "TSC2(NM_000548.5):c.291C>G (p.A97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053407C>G" "" "benign" "" "0000313541" "0" "30" "16" "2127724" "2127724" "subst" "6.9269E-5" "02329" "TSC2_002021" "g.2127724G>C" "" "" "" "TSC2(NM_000548.3):c.2963G>C (p.R988P), TSC2(NM_000548.5):c.2963G>C (p.R988P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077723G>C" "" "likely benign" "" "0000313542" "0" "10" "16" "2129192" "2129192" "subst" "0.00313342" "02329" "TSC2_000499" "g.2129192G>C" "" "" "" "TSC2(NM_000548.3):c.3126G>C (p.P1042=), TSC2(NM_000548.5):c.3126G>C (p.P1042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079191G>C" "" "benign" "" "0000313543" "0" "10" "16" "2129192" "2129192" "subst" "0.000105804" "02329" "TSC2_000760" "g.2129192G>T" "" "" "" "TSC2(NM_000548.3):c.3126G>T (p.P1042=), TSC2(NM_000548.5):c.3126G>T (p.P1042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079191G>T" "" "benign" "" "0000313544" "0" "30" "16" "2129442" "2129442" "subst" "4.08844E-6" "02329" "TSC2_003921" "g.2129442T>A" "" "" "" "TSC2(NM_000548.5):c.3284+13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079441T>A" "" "likely benign" "" "0000313545" "0" "10" "16" "2130190" "2130190" "subst" "0.00137166" "02329" "TSC2_000515" "g.2130190C>T" "" "" "" "TSC2(NM_000548.3):c.3422C>T (p.A1141V), TSC2(NM_000548.5):c.3422C>T (p.A1141V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080189C>T" "" "benign" "" "0000313546" "0" "30" "16" "2130387" "2130387" "subst" "0.000561737" "02329" "TSC2_000317" "g.2130387C>T" "" "" "" "TSC2(NM_000548.3):c.3610+9C>T, TSC2(NM_000548.5):c.3610+9C>T, TSC2(NM_001114382.2):c.3610+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080386C>T" "" "likely benign" "" "0000313547" "0" "30" "16" "2131708" "2131708" "subst" "0.000240349" "02329" "TSC2_000255" "g.2131708C>T" "" "" "" "TSC2(NM_000548.5):c.3723C>T (p.F1241=), TSC2(NM_001114382.2):c.3723C>T (p.F1241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081707C>T" "" "likely benign" "" "0000313548" "0" "10" "16" "2132513" "2132513" "subst" "0.00289752" "02329" "TSC2_000539" "g.2132513C>G" "" "" "" "TSC2(NM_000548.3):c.3883+8C>G, TSC2(NM_000548.5):c.3883+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2082512C>G" "" "benign" "" "0000313549" "0" "30" "16" "2133679" "2133679" "subst" "0.00052936" "02329" "TSC2_000541" "g.2133679C>G" "" "" "" "TSC2(NM_000548.3):c.3884-17C>G, TSC2(NM_000548.5):c.3884-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083678C>G" "" "likely benign" "" "0000313550" "0" "30" "16" "2133701" "2133701" "subst" "0.00281981" "02329" "TSC2_000542" "g.2133701G>A" "" "" "" "TSC2(NM_000548.3):c.3889G>A (p.(Ala1297Thr)), TSC2(NM_000548.5):c.3889G>A (p.A1297T), TSC2(NM_001370404.1):c.3757G>A (p.A1253T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083700G>A" "" "likely benign" "" "0000313551" "0" "10" "16" "2133726" "2133726" "subst" "0.0018471" "02329" "TSC2_000543" "g.2133726C>T" "" "" "" "TSC2(NM_000548.5):c.3914C>T (p.P1305L), TSC2(NM_001114382.2):c.3845C>T (p.P1282L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083725C>T" "" "benign" "" "0000313552" "0" "10" "16" "2133727" "2133727" "subst" "0.00475155" "02329" "TSC2_000091" "g.2133727G>A" "" "" "" "TSC2(NM_000548.3):c.3915G>A (p.P1305=, p.(Pro1305=)), TSC2(NM_000548.5):c.3915G>A (p.P1305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083726G>A" "" "benign" "" "0000313553" "0" "10" "16" "2133798" "2133798" "subst" "0.00532816" "02329" "TSC2_000092" "g.2133798G>A" "" "" "" "TSC2(NM_000548.3):c.3986G>A (p.R1329H, p.(Arg1329His)), TSC2(NM_000548.5):c.3986G>A (p.R1329H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083797G>A" "" "benign" "" "0000313554" "0" "10" "16" "2134221" "2134221" "subst" "0.00247118" "02329" "TSC2_000917" "g.2134221C>T" "" "" "" "TSC2(NM_000548.3):c.4006-8C>T, TSC2(NM_000548.5):c.4006-8C>T, TSC2(NM_001114382.2):c.3937-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084220C>T" "" "benign" "" "0000313555" "0" "30" "16" "2134328" "2134328" "subst" "0.000253707" "02329" "TSC2_000558" "g.2134328C>T" "" "" "" "TSC2(NM_000548.5):c.4105C>T (p.R1369W, p.(Arg1369Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084327C>T" "" "likely benign" "" "0000313556" "0" "30" "16" "2134393" "2134393" "subst" "4.10088E-6" "02329" "TSC2_004008" "g.2134393G>A" "" "" "" "TSC2(NM_000548.5):c.4170G>A (p.E1390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084392G>A" "" "likely benign" "" "0000313557" "0" "30" "16" "2134492" "2134492" "subst" "0.00269103" "02329" "TSC2_000570" "g.2134492G>A" "" "" "" "TSC2(NM_000548.3):c.4269G>A (p.L1423=, p.(Leu1423=)), TSC2(NM_000548.5):c.4269G>A (p.L1423=), TSC2(NM_001370404.1):c.4137G>A (p.L1379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084491G>A" "" "likely benign" "" "0000313558" "0" "10" "16" "2134508" "2134508" "subst" "0.00277811" "02329" "TSC2_000572" "g.2134508G>T" "" "" "" "TSC2(NM_000548.3):c.4285G>T (p.A1429S), TSC2(NM_000548.5):c.4285G>T (p.A1429S, p.(Ala1429Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084507G>T" "" "benign" "" "0000313559" "0" "50" "16" "2134631" "2134631" "subst" "4.25648E-5" "02329" "TSC2_004037" "g.2134631C>T" "" "" "" "TSC2(NM_000548.5):c.4408C>T (p.R1470C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084630C>T" "" "VUS" "" "0000313561" "0" "30" "16" "2134985" "2134987" "del" "0" "02329" "TSC2_000017" "g.2134985_2134987del" "" "" "" "TSC2(NM_000548.3):c.4527_4529del (p.(Phe1510del)), TSC2(NM_000548.3):c.4527_4529delCTT (p.F1510del), TSC2(NM_000548.5):c.4527_4529delCTT (p.F1510d...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084984_2084986del" "" "likely benign" "" "0000313562" "0" "30" "16" "2134994" "2134994" "subst" "0.00313367" "02329" "TSC2_000018" "g.2134994C>T" "" "" "" "TSC2(NM_000548.3):c.4536C>T (p.D1512=, p.(Asp1512=)), TSC2(NM_000548.5):c.4536C>T (p.D1512=), TSC2(NM_001114382.2):c.4467C>T (p.D1489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084993C>T" "" "likely benign" "" "0000313563" "0" "30" "16" "2136384" "2136384" "subst" "4.99538E-5" "02329" "TSC2_004104" "g.2136384C>T" "" "" "" "TSC2(NM_000548.5):c.4849+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086383C>T" "" "likely benign" "" "0000313564" "0" "30" "16" "2136794" "2136794" "subst" "0.000854337" "02329" "TSC2_000028" "g.2136794G>A" "" "" "" "TSC2(NM_000548.5):c.4911G>A (p.K1637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086793G>A" "" "likely benign" "" "0000313565" "0" "10" "16" "2136842" "2136842" "subst" "0.00963142" "02329" "TSC2_000031" "g.2136842C>T" "" "" "" "TSC2(NM_000548.3):c.4959C>T (p.S1653=, p.(Ser1653=)), TSC2(NM_000548.5):c.4959C>T (p.S1653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086841C>T" "" "benign" "" "0000313566" "0" "10" "16" "2136866" "2136866" "subst" "0.00524021" "02329" "TSC2_000094" "g.2136866C>T" "" "" "" "TSC2(NM_000548.3):c.4983C>T (p.T1661=, p.(Thr1661=)), TSC2(NM_000548.5):c.4983C>T (p.T1661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086865C>T" "" "benign" "" "0000313567" "0" "10" "16" "2137969" "2138002" "del" "0" "02329" "TSC2_000144" "g.2137969_2138002del" "" "" "" "PKD1(NM_001009944.3):c.*1770_*1803del, TSC2(NM_000548.3):c.5051_5068+16del, TSC2(NM_000548.3):c.5068+27_5069-47del (p.(=)), TSC2(NM_000548.5):c.505..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087968_2088001del" "" "benign" "" "0000313568" "0" "10" "16" "2138508" "2138508" "subst" "0.00233816" "02329" "TSC2_000891" "g.2138508G>C" "" "" "" "TSC2(NM_000548.3):c.5321G>C (p.S1774T), TSC2(NM_000548.5):c.5321G>C (p.S1774T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088507G>C" "" "benign" "" "0000313569" "0" "30" "16" "2138534" "2138534" "subst" "1.22486E-5" "02329" "TSC2_002735" "g.2138534G>A" "" "" "" "TSC2(NM_000548.5):c.5347G>A (p.E1783K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088533G>A" "" "likely benign" "" "0000313570" "0" "30" "16" "2138570" "2138570" "subst" "0.00148943" "02329" "TSC2_000666" "g.2138570C>T" "" "" "" "TSC2(NM_000548.3):c.5383C>T (p.R1795C, p.(Arg1795Cys)), TSC2(NM_000548.5):c.5383C>T (p.R1795C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088569C>T" "" "likely benign" "" "0000313571" "0" "30" "16" "2106225" "2106225" "subst" "0.000250189" "02329" "TSC2_003276" "g.2106225G>A" "" "" "" "TSC2(NM_000548.5):c.628G>A (p.A210T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056224G>A" "" "likely benign" "" "0000313572" "0" "10" "16" "2106725" "2106725" "subst" "0.00337349" "02329" "TSC2_000122" "g.2106725C>G" "" "" "" "TSC2(NM_000548.3):c.729C>G (p.L243=), TSC2(NM_000548.5):c.729C>G (p.L243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056724C>G" "" "benign" "" "0000314865" "0" "30" "16" "2098205" "2098205" "subst" "0" "02326" "TSC2_000751" "g.2098205T>G" "" "" "" "TSC2(NM_000548.3):c.-30+139T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048204T>G" "" "likely benign" "" "0000314866" "0" "10" "16" "2138672" "2138673" "del" "0" "02326" "TSC2_000304" "g.2138672_2138673del" "" "" "" "TSC2(NM_000548.3):c.*61_*62delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088671_2088672del" "" "benign" "" "0000314867" "0" "30" "16" "2110795" "2110795" "subst" "0.0138783" "02326" "TSC2_000163" "g.2110795G>A" "" "" "" "TSC2(NM_000548.3):c.1100G>A (p.R367Q, p.(Arg367Gln)), TSC2(NM_000548.5):c.1100G>A (p.R367Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060794G>A" "" "likely benign" "" "0000314868" "0" "10" "16" "2111779" "2111779" "subst" "0" "02326" "TSC2_001025" "g.2111779T>C" "" "" "" "TSC2(NM_000548.3):c.1120-93T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2061778T>C" "" "benign" "" "0000314869" "0" "10" "16" "2112516" "2112516" "subst" "0.00118043" "02326" "TSC2_000063" "g.2112516C>T" "" "" "" "TSC2(NM_000548.3):c.1276C>T (p.L426=), TSC2(NM_000548.5):c.1276C>T (p.L426=, p.(Leu426=)), TSC2(NM_001114382.2):c.1276C>T (p.L426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062515C>T" "" "benign" "" "0000314870" "0" "10" "16" "2114407" "2114407" "subst" "0.0574263" "02326" "TSC2_000005" "g.2114407C>T" "" "" "" "TSC2(NM_000548.3):c.1578C>T (p.S526=), TSC2(NM_000548.5):c.1578C>T (p.S526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064406C>T" "" "benign" "" "0000314871" "0" "10" "16" "2115506" "2115506" "subst" "0.0568299" "02326" "TSC2_000176" "g.2115506C>T" "" "" "" "TSC2(NM_000548.3):c.1600-14C>T, TSC2(NM_000548.5):c.1600-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065505C>T" "" "benign" "" "0000314872" "0" "10" "16" "2115481" "2115481" "subst" "0.0743235" "02326" "TSC2_000175" "g.2115481C>T" "" "" "" "TSC2(NM_000548.3):c.1600-39C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065480C>T" "" "benign" "" "0000314873" "0" "10" "16" "2120402" "2120402" "subst" "0" "02326" "TSC2_002178" "g.2120402T>C" "" "" "" "TSC2(NM_000548.3):c.1717-55T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070401T>C" "" "benign" "" "0000314874" "0" "10" "16" "2125769" "2125769" "subst" "0.0105874" "02326" "TSC2_002361" "g.2125769G>A" "" "" "" "TSC2(NM_000548.3):c.2546-31G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075768G>A" "" "benign" "" "0000314876" "0" "10" "16" "2105400" "2105400" "subst" "0.0871488" "02326" "TSC2_000156" "g.2105400C>T" "" "" "" "TSC2(NM_000548.3):c.482-3C>T, TSC2(NM_000548.5):c.482-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055399C>T" "" "benign" "" "0000314877" "0" "10" "16" "2105335" "2105335" "subst" "0" "02326" "TSC2_001006" "g.2105335C>G" "" "" "" "TSC2(NM_000548.3):c.482-68C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055334C>G" "" "benign" "" "0000314878" "0" "10" "16" "2136455" "2136455" "subst" "0" "02326" "TSC2_002646" "g.2136455C>T" "" "" "" "TSC2(NM_000548.3):c.4849+75C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086454C>T" "" "benign" "" "0000314879" "0" "10" "16" "2138269" "2138269" "subst" "0.178282" "02326" "TSC2_000001" "g.2138269T>C" "" "" "" "PKD1(NM_001009944.3):c.*1459A>G, TSC2(NM_000548.3):c.5202T>C (p.D1734=), TSC2(NM_000548.5):c.5202T>C (p.D1734=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088268T>C" "" "benign" "" "0000314880" "0" "10" "16" "2138422" "2138422" "subst" "0.11417" "02326" "TSC2_000300" "g.2138422C>G" "" "" "" "TSC2(NM_000548.3):c.5260-25C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088421C>G" "" "benign" "" "0000314881" "0" "10" "16" "2138398" "2138398" "subst" "0.105846" "02326" "TSC2_000150" "g.2138398C>T" "" "" "" "TSC2(NM_000548.3):c.5260-49C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088397C>T" "" "benign" "" "0000314882" "0" "10" "16" "2110571" "2110571" "subst" "0" "02326" "TSC2_001317" "g.2110571C>G" "" "" "" "TSC2(NM_000548.3):c.976-100C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060570C>G" "" "benign" "" "0000314883" "0" "10" "16" "2110608" "2110608" "subst" "0" "02326" "TSC2_000752" "g.2110608G>A" "" "" "" "TSC2(NM_000548.3):c.976-63G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060607G>A" "" "benign" "" "0000317376" "0" "10" "16" "2098578" "2098578" "subst" "0.000752528" "01943" "TSC2_003022" "g.2098578G>C" "" "" "" "TSC2(NM_000548.3):c.-29-10G>C, TSC2(NM_000548.5):c.-29-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048577G>C" "" "benign" "" "0000317377" "0" "10" "16" "2138670" "2138673" "del" "0" "01943" "TSC2_000683" "g.2138670_2138673del" "" "" "" "TSC2(NM_000548.3):c.*59_*62delTAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088669_2088672del" "" "benign" "" "0000317378" "0" "10" "16" "2138672" "2138673" "del" "0" "01943" "TSC2_000304" "g.2138672_2138673del" "" "" "" "TSC2(NM_000548.3):c.*61_*62delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088671_2088672del" "" "benign" "" "0000317379" "0" "10" "16" "2138617" "2138617" "subst" "0" "01943" "TSC2_002319" "g.2138617G>A" "" "" "" "TSC2(NM_000548.3):c.*6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088616G>A" "" "benign" "" "0000317380" "0" "50" "16" "2138682" "2138682" "subst" "0" "01943" "TSC2_002678" "g.2138682C>T" "" "" "" "TSC2(NM_000548.3):c.*71C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088681C>T" "" "VUS" "" "0000317381" "0" "90" "16" "2110704" "2110704" "subst" "0" "01943" "TSC2_002146" "g.2110704G>T" "" "" "" "TSC2(NM_000548.3):c.1009G>T (p.E337*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060703G>T" "" "pathogenic" "" "0000317382" "0" "90" "16" "2110714" "2110714" "subst" "0" "01943" "TSC2_002015" "g.2110714T>C" "" "" "" "TSC2(NM_000548.3):c.1019T>C (p.L340P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060713T>C" "" "pathogenic" "" "0000317383" "0" "50" "16" "2110728" "2110728" "subst" "8.12249E-6" "01943" "TSC2_002338" "g.2110728C>T" "" "" "" "TSC2(NM_000548.3):c.1033C>T (p.L345F), TSC2(NM_001114382.2):c.1033C>T (p.L345F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060727C>T" "" "VUS" "" "0000317384" "0" "30" "16" "2110758" "2110758" "subst" "0" "01943" "TSC2_001319" "g.2110758G>T" "" "" "" "TSC2(NM_001114382.2):c.1063G>T (p.V355L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060757G>T" "" "likely benign" "" "0000317385" "0" "90" "16" "2098723" "2098726" "del" "0" "01943" "TSC2_001060" "g.2098723_2098726del" "" "" "" "TSC2(NM_000548.3):c.107_110delCGGA (p.T36Sfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048722_2048725del" "" "pathogenic" "" "0000317386" "0" "90" "16" "2110791" "2110791" "subst" "0" "01943" "TSC2_000383" "g.2110791G>T" "" "" "" "TSC2(NM_000548.3):c.1096G>T (p.E366*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060790G>T" "" "pathogenic" "" "0000317387" "0" "90" "16" "2110794" "2110794" "del" "0" "01943" "TSC2_002340" "g.2110794del" "" "" "" "TSC2(NM_000548.3):c.1099delC (p.R367Gfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060793del" "" "pathogenic" "" "0000317388" "0" "10" "16" "2110795" "2110795" "subst" "0.0138783" "01943" "TSC2_000163" "g.2110795G>A" "" "" "" "TSC2(NM_000548.3):c.1100G>A (p.R367Q, p.(Arg367Gln)), TSC2(NM_000548.5):c.1100G>A (p.R367Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060794G>A" "" "benign" "" "0000317389" "0" "90" "16" "2110795" "2110795" "subst" "0" "01943" "TSC2_002147" "g.2110795G>C" "" "" "" "TSC2(NM_000548.3):c.1100G>C (p.R367P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060794G>C" "" "pathogenic" "" "0000317390" "0" "10" "16" "2110805" "2110805" "subst" "0.0100457" "01943" "TSC2_000164" "g.2110805G>A" "" "" "" "TSC2(NM_000548.3):c.1110G>A (p.Q370=), TSC2(NM_000548.5):c.1110G>A (p.Q370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060804G>A" "" "benign" "" "0000317391" "0" "90" "16" "2110812" "2110812" "subst" "0" "01943" "TSC2_000385" "g.2110812C>T" "" "" "" "TSC2(NM_000548.3):c.1117C>T (p.Q373*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060811C>T" "" "pathogenic" "" "0000317392" "0" "10" "16" "2110837" "2110837" "subst" "0.00029227" "01943" "TSC2_002148" "g.2110837G>A" "" "" "" "TSC2(NM_000548.3):c.1119+23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060836G>A" "" "benign" "" "0000317393" "0" "10" "16" "2110820" "2110820" "subst" "2.44858E-5" "01943" "TSC2_002149" "g.2110820G>C" "" "" "" "TSC2(NM_000548.3):c.1119+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060819G>C" "" "benign" "" "0000317394" "0" "10" "16" "2111902" "2111902" "subst" "2.03107E-5" "01943" "TSC2_002341" "g.2111902G>A" "" "" "" "TSC2(NM_000548.3):c.1150G>A (p.V384I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2061901G>A" "" "benign" "" "0000317395" "0" "90" "16" "2111903" "2111903" "subst" "0" "01943" "TSC2_002152" "g.2111903T>A" "" "" "" "TSC2(NM_000548.3):c.1151T>A (p.V384D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2061902T>A" "" "pathogenic" "" "0000317396" "0" "90" "16" "2098736" "2098736" "del" "0" "01943" "TSC2_002108" "g.2098736del" "" "" "" "TSC2(NM_000548.3):c.120delC (p.T41Pfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048735del" "" "pathogenic" "" "0000317397" "0" "90" "16" "2111962" "2111962" "subst" "0" "01943" "TSC2_000387" "g.2111962C>T" "" "" "" "TSC2(NM_000548.3):c.1210C>T (p.Q404*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2061961C>T" "" "pathogenic" "" "0000317398" "0" "90" "16" "2111986" "2111986" "del" "0" "01943" "TSC2_002153" "g.2111986del" "" "" "" "TSC2(NM_000548.3):c.1234delG (p.E412Rfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2061985del" "" "pathogenic" "" "0000317399" "0" "90" "16" "2112010" "2112010" "subst" "0" "01943" "TSC2_002155" "g.2112010G>A" "" "" "" "TSC2(NM_000548.3):c.1257+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062009G>A" "" "pathogenic" "" "0000317400" "0" "90" "16" "2112030" "2112030" "subst" "0" "01943" "TSC2_002343" "g.2112030G>A" "" "" "" "TSC2(NM_000548.3):c.1257+21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062029G>A" "" "pathogenic" "" "0000317401" "0" "10" "16" "2112468" "2112468" "subst" "0" "01943" "TSC2_002326" "g.2112468G>T" "" "" "" "TSC2(NM_000548.3):c.1258-30G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062467G>T" "" "benign" "" "0000317403" "0" "10" "16" "2112521" "2112521" "subst" "0.00171838" "01943" "TSC2_000064" "g.2112521C>A" "" "" "" "TSC2(NM_000548.3):c.1281C>A (p.I427=, p.(Ile427=)), TSC2(NM_000548.5):c.1281C>A (p.I427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062520C>A" "" "benign" "" "0000317404" "0" "50" "16" "2112521" "2112521" "subst" "0" "01943" "TSC2_002055" "g.2112521C>G" "" "" "" "TSC2(NM_000548.3):c.1281C>G (p.I427M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062520C>G" "" "VUS" "" "0000317405" "0" "10" "16" "2112558" "2112558" "subst" "0.000718652" "01943" "TSC2_000167" "g.2112558G>A" "" "" "" "TSC2(NM_000548.3):c.1318G>A (p.G440S, p.(Gly440Ser)), TSC2(NM_000548.5):c.1318G>A (p.G440S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062557G>A" "" "benign" "" "0000317406" "0" "90" "16" "2112576" "2112576" "subst" "0" "01943" "TSC2_000199" "g.2112576C>T" "" "" "" "TSC2(NM_000548.3):c.1336C>T (p.Q446*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062575C>T" "" "pathogenic" "" "0000317407" "0" "50" "16" "2112580" "2112580" "subst" "5.0293E-5" "01943" "TSC2_000394" "g.2112580C>T" "" "" "" "TSC2(NM_000548.3):c.1340C>T (p.A447V), TSC2(NM_000548.5):c.1340C>T (p.A447V), TSC2(NM_001114382.2):c.1340C>T (p.A447V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062579C>T" "" "VUS" "" "0000317408" "0" "90" "16" "2112592" "2112593" "del" "0" "01943" "TSC2_002157" "g.2112592_2112593del" "" "" "" "TSC2(NM_000548.3):c.1352_1353delGA (p.R451Ifs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062591_2062592del" "" "pathogenic" "" "0000317409" "0" "10" "16" "2112619" "2112619" "subst" "0.000774683" "01943" "TSC2_001321" "g.2112619G>C" "" "" "" "TSC2(NM_000548.3):c.1361+18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062618G>C" "" "benign" "" "0000317410" "0" "90" "16" "2112602" "2112602" "del" "0" "01943" "TSC2_003603" "g.2112602del" "" "" "" "TSC2(NM_000548.3):c.1361+1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062601del" "" "pathogenic" "" "0000317411" "0" "90" "16" "2112602" "2112602" "subst" "0" "01943" "TSC2_000733" "g.2112602G>A" "" "" "" "TSC2(NM_000548.3):c.1361+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062601G>A" "" "pathogenic" "" "0000317412" "0" "90" "16" "2112603" "2112603" "subst" "0" "01943" "TSC2_002158" "g.2112603T>C" "" "" "" "TSC2(NM_000548.3):c.1361+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062602T>C" "" "pathogenic" "" "0000317413" "0" "90" "16" "2112603" "2112603" "subst" "0" "01943" "TSC2_002159" "g.2112603T>G" "" "" "" "TSC2(NM_000548.3):c.1361+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062602T>G" "" "pathogenic" "" "0000317414" "0" "10" "16" "2112655" "2112658" "del" "0" "01943" "TSC2_000697" "g.2112655_2112658del" "" "" "" "TSC2(NM_000548.3):c.1361+54_1361+57delTCTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062654_2062657del" "" "benign" "" "0000317415" "0" "10" "16" "2112941" "2112941" "subst" "0.00378077" "01943" "TSC2_000396" "g.2112941C>G" "" "" "" "TSC2(NM_000548.3):c.1362-32C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062940C>G" "" "benign" "" "0000317416" "0" "10" "16" "2112969" "2112969" "subst" "6.77599E-5" "01943" "TSC2_002344" "g.2112969G>A" "" "" "" "TSC2(NM_000548.3):c.1362-4G>A, TSC2(NM_000548.5):c.1362-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062968G>A" "" "benign" "" "0000317417" "0" "50" "16" "2112977" "2112977" "subst" "2.7019E-5" "01943" "TSC2_002017" "g.2112977G>A" "" "" "" "TSC2(NM_000548.3):c.1366G>A (p.E456K), TSC2(NM_000548.5):c.1366G>A (p.E456K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062976G>A" "" "VUS" "" "0000317418" "0" "90" "16" "2112983" "2112983" "subst" "0" "01943" "TSC2_000070" "g.2112983C>T" "" "" "" "TSC2(NM_000548.3):c.1372C>T (p.R458*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062982C>T" "" "pathogenic" "" "0000317419" "0" "10" "16" "2112989" "2112989" "subst" "0.00121899" "01943" "TSC2_001096" "g.2112989G>A" "" "" "" "TSC2(NM_000548.3):c.1378G>A (p.A460T), TSC2(NM_000548.5):c.1378G>A (p.A460T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062988G>A" "" "benign" "" "0000317420" "0" "10" "16" "2098767" "2098767" "subst" "0" "01943" "TSC2_001301" "g.2098767C>T" "" "" "" "TSC2(NM_000548.3):c.138+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048766C>T" "" "benign" "" "0000317421" "0" "90" "16" "2098755" "2098755" "subst" "0" "01943" "TSC2_000013" "g.2098755G>A" "" "" "" "TSC2(NM_000548.3):c.138+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048754G>A" "" "pathogenic" "" "0000317422" "0" "10" "16" "2098774" "2098774" "subst" "0.000601626" "01943" "TSC2_000342" "g.2098774C>G" "" "" "" "TSC2(NM_000548.3):c.138+20C>G, TSC2(NM_000548.5):c.138+20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048773C>G" "" "benign" "" "0000317423" "0" "50" "16" "2098759" "2098759" "subst" "0" "01943" "TSC2_000034" "g.2098759G>A" "" "" "" "TSC2(NM_000548.3):c.138+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048758G>A" "" "VUS" "" "0000317424" "0" "30" "16" "2100386" "2100386" "subst" "1.62623E-5" "01943" "TSC2_001302" "g.2100386T>G" "" "" "" "TSC2(NM_000548.3):c.139-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050385T>G" "" "likely benign" "" "0000317425" "0" "90" "16" "2100400" "2100400" "subst" "0" "01943" "TSC2_003589" "g.2100400G>T" "" "" "" "TSC2(NM_000548.3):c.139-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050399G>T" "" "pathogenic" "" "0000317426" "0" "30" "16" "2100381" "2100381" "subst" "0" "01943" "TSC2_003590" "g.2100381C>T" "" "" "" "TSC2(NM_000548.3):c.139-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050380C>T" "" "likely benign" "" "0000317427" "0" "90" "16" "2113008" "2113008" "subst" "0" "01943" "TSC2_001121" "g.2113008T>C" "" "" "" "TSC2(NM_000548.3):c.1397T>C (p.L466P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063007T>C" "" "pathogenic" "" "0000317428" "0" "90" "16" "2113043" "2113043" "subst" "0" "01943" "TSC2_001030" "g.2113043C>T" "" "" "" "TSC2(NM_000548.3):c.1432C>T (p.Q478*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063042C>T" "" "pathogenic" "" "0000317429" "0" "90" "16" "2113049" "2113050" "ins" "0" "01943" "TSC2_003604" "g.2113049_2113050insTT" "" "" "" "TSC2(NM_000548.3):c.1438_1439insTT (p.Y480Ffs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063048_2063049insTT" "" "pathogenic" "" "0000317430" "0" "10" "16" "2113069" "2113069" "subst" "6.05091E-5" "01943" "TSC2_002946" "g.2113069G>A" "" "" "" "TSC2(NM_000548.3):c.1443+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063068G>A" "" "benign" "" "0000317431" "0" "10" "16" "2113072" "2113072" "subst" "0.000679074" "01943" "TSC2_002161" "g.2113072C>T" "" "" "" "TSC2(NM_000548.3):c.1443+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063071C>T" "" "benign" "" "0000317432" "0" "90" "16" "2113055" "2113055" "subst" "0" "01943" "TSC2_002497" "g.2113055G>A" "" "" "" "TSC2(NM_000548.3):c.1443+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063054G>A" "" "pathogenic" "" "0000317433" "0" "90" "16" "2113055" "2113055" "subst" "0" "01943" "TSC2_002162" "g.2113055G>T" "" "" "" "TSC2(NM_000548.3):c.1443+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063054G>T" "" "pathogenic" "" "0000317434" "0" "90" "16" "2113056" "2113056" "subst" "0" "01943" "TSC2_002163" "g.2113056T>G" "" "" "" "TSC2(NM_000548.3):c.1443+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063055T>G" "" "pathogenic" "" "0000317435" "0" "30" "16" "2113058" "2113058" "subst" "0.000154541" "01943" "TSC2_000698" "g.2113058C>T" "" "" "" "TSC2(NM_000548.3):c.1443+4C>T, TSC2(NM_000548.5):c.1443+4C>T, TSC2(NM_001114382.2):c.1443+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063057C>T" "" "likely benign" "" "0000317436" "0" "50" "16" "2114306" "2114306" "subst" "0" "01943" "TSC2_000699" "g.2114306C>G" "" "" "" "TSC2(NM_000548.3):c.1477C>G (p.L493V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064305C>G" "" "VUS" "" "0000317437" "0" "90" "16" "2114307" "2114307" "subst" "0" "01943" "TSC2_002059" "g.2114307T>C" "" "" "" "TSC2(NM_000548.3):c.1478T>C (p.L493P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064306T>C" "" "pathogenic" "" "0000317438" "0" "10" "16" "2114308" "2114308" "subst" "4.06128E-6" "01943" "TSC2_001053" "g.2114308C>T" "" "" "" "TSC2(NM_000548.3):c.1479C>T (p.L493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064307C>T" "" "benign" "" "0000317439" "0" "90" "16" "2114321" "2114321" "subst" "0" "01943" "TSC2_000407" "g.2114321G>T" "" "" "" "TSC2(NM_000548.3):c.1492G>T (p.E498*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064320G>T" "" "pathogenic" "" "0000317440" "0" "90" "16" "2114328" "2114329" "del" "0" "01943" "TSC2_003605" "g.2114328_2114329del" "" "" "" "TSC2(NM_000548.3):c.1499_1500delAA (p.K500Rfs*88)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064327_2064328del" "" "pathogenic" "" "0000317441" "0" "90" "16" "2114336" "2114336" "subst" "0" "01943" "TSC2_002164" "g.2114336C>T" "" "" "" "TSC2(NM_000548.3):c.1507C>T (p.Q503*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064335C>T" "" "pathogenic" "" "0000317442" "0" "30" "16" "2114341" "2114341" "subst" "7.31107E-5" "01943" "TSC2_003606" "g.2114341C>G" "" "" "" "TSC2(NM_000548.3):c.1512C>G (p.V504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064340C>G" "" "likely benign" "" "0000317443" "0" "90" "16" "2114342" "2114342" "subst" "0" "01943" "TSC2_000051" "g.2114342C>T" "" "" "" "TSC2(NM_000548.3):c.1513C>T (p.R505*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064341C>T" "" "pathogenic" "" "0000317444" "0" "10" "16" "2114372" "2114372" "subst" "0.00193365" "01943" "TSC2_002346" "g.2114372C>T" "" "" "" "TSC2(NM_000548.3):c.1543C>T (p.L515=), TSC2(NM_000548.5):c.1543C>T (p.L515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064371C>T" "" "benign" "" "0000317445" "0" "90" "16" "2114375" "2114375" "del" "0" "01943" "TSC2_002167" "g.2114375del" "" "" "" "TSC2(NM_000548.3):c.1546delG (p.A516Qfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064374del" "" "pathogenic" "" "0000317448" "0" "10" "16" "2114407" "2114407" "subst" "0.0574263" "01943" "TSC2_000005" "g.2114407C>T" "" "" "" "TSC2(NM_000548.3):c.1578C>T (p.S526=), TSC2(NM_000548.5):c.1578C>T (p.S526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064406C>T" "" "benign" "" "0000317449" "0" "50" "16" "2114414" "2114414" "subst" "0" "01943" "TSC2_003607" "g.2114414G>T" "" "" "" "TSC2(NM_000548.3):c.1585G>T (p.D529Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064413G>T" "" "VUS" "" "0000317450" "0" "10" "16" "2114422" "2114422" "subst" "0.00101201" "01943" "TSC2_000222" "g.2114422C>T" "" "" "" "TSC2(NM_000548.3):c.1593C>T (p.I531=), TSC2(NM_000548.5):c.1593C>T (p.I531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064421C>T" "" "benign" "" "0000317451" "0" "90" "16" "2114433" "2114433" "subst" "0" "01943" "TSC2_002171" "g.2114433G>A" "" "" "" "TSC2(NM_000548.3):c.1599+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064432G>A" "" "pathogenic" "" "0000317452" "0" "10" "16" "2114510" "2114512" "del" "0" "01943" "TSC2_002348" "g.2114510_2114512del" "" "" "" "TSC2(NM_000548.3):c.1599+82_1599+84delCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064509_2064511del" "" "benign" "" "0000317453" "0" "90" "16" "2114428" "2114428" "subst" "0" "01943" "TSC2_000410" "g.2114428G>A" "" "" "" "TSC2(NM_000548.3):c.1599G>A (p.K533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064427G>A" "" "pathogenic" "" "0000317454" "0" "10" "16" "2115506" "2115506" "subst" "0.0568299" "01943" "TSC2_000176" "g.2115506C>T" "" "" "" "TSC2(NM_000548.3):c.1600-14C>T, TSC2(NM_000548.5):c.1600-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065505C>T" "" "benign" "" "0000317456" "0" "50" "16" "2115529" "2115529" "subst" "0.000142804" "01943" "TSC2_002349" "g.2115529C>T" "" "" "" "TSC2(NM_000548.3):c.1609C>T (p.R537C), TSC2(NM_001114382.2):c.1609C>T (p.R537C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065528C>T" "" "VUS" "" "0000317457" "0" "50" "16" "2115544" "2115544" "subst" "0" "01943" "TSC2_003582" "g.2115544C>G" "" "" "" "TSC2(NM_000548.3):c.1624C>G (p.P542A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065543C>G" "" "VUS" "" "0000317458" "0" "90" "16" "2115550" "2115550" "del" "0" "01943" "TSC2_002174" "g.2115550del" "" "" "" "TSC2(NM_000548.3):c.1630delG (p.E544Sfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065549del" "" "pathogenic" "" "0000317459" "0" "90" "16" "2115556" "2115556" "subst" "0" "01943" "TSC2_003608" "g.2115556G>T" "" "" "" "TSC2(NM_000548.3):c.1636G>T (p.E546*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065555G>T" "" "pathogenic" "" "0000317460" "0" "90" "16" "2115562" "2115563" "del" "0" "01943" "TSC2_000972" "g.2115562_2115563del" "" "" "" "TSC2(NM_000548.3):c.1642_1643delAG (p.R548Gfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065561_2065562del" "" "pathogenic" "" "0000317461" "0" "10" "16" "2115664" "2115664" "subst" "2.04962E-5" "01943" "TSC2_002177" "g.2115664C>A" "" "" "" "TSC2(NM_000548.3):c.1716+28C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065663C>A" "" "benign" "" "0000317462" "0" "10" "16" "2120443" "2120443" "subst" "1.62705E-5" "01943" "TSC2_002686" "g.2120443T>C" "" "" "" "TSC2(NM_000548.3):c.1717-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070442T>C" "" "benign" "" "0000317463" "0" "10" "16" "2120429" "2120429" "subst" "0.000244176" "01943" "TSC2_000414" "g.2120429C>T" "" "" "" "TSC2(NM_000548.3):c.1717-28C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070428C>T" "" "benign" "" "0000317464" "0" "10" "16" "2120402" "2120402" "subst" "0" "01943" "TSC2_002178" "g.2120402T>C" "" "" "" "TSC2(NM_000548.3):c.1717-55T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070401T>C" "" "benign" "" "0000317465" "0" "90" "16" "2100433" "2100433" "del" "0" "01943" "TSC2_002110" "g.2100433del" "" "" "" "TSC2(NM_000548.3):c.171delC (p.I58Sfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050432del" "" "pathogenic" "" "0000317466" "0" "90" "16" "2120481" "2120481" "dup" "0" "01943" "TSC2_001031" "g.2120481dup" "" "" "" "TSC2(NM_000548.3):c.1741dupA (p.S581Kfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070480dup" "" "pathogenic" "" "0000317467" "0" "10" "16" "2120492" "2120492" "subst" "6.50539E-5" "01943" "TSC2_002352" "g.2120492G>A" "" "" "" "TSC2(NM_000548.3):c.1752G>A (p.T584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070491G>A" "" "benign" "" "0000317468" "0" "50" "16" "2120494" "2120494" "subst" "2.84615E-5" "01943" "TSC2_002031" "g.2120494G>A" "" "" "" "TSC2(NM_000548.3):c.1754G>A (p.R585H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070493G>A" "" "VUS" "" "0000317470" "0" "90" "16" "2120523" "2120523" "subst" "0" "01943" "TSC2_000230" "g.2120523C>T" "" "" "" "TSC2(NM_000548.3):c.1783C>T (p.Q595*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070522C>T" "" "pathogenic" "" "0000317472" "0" "90" "16" "2120532" "2120534" "del" "0" "01943" "TSC2_002181" "g.2120532_2120534del" "" "" "" "TSC2(NM_000548.3):c.1792_1794delTAC (p.Y598del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070531_2070533del" "" "pathogenic" "" "0000317473" "0" "90" "16" "2120532" "2120532" "subst" "0" "01943" "TSC2_000420" "g.2120532T>C" "" "" "" "TSC2(NM_000548.3):c.1792T>C (p.Y598H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070531T>C" "" "pathogenic" "" "0000317474" "0" "50" "16" "2098633" "2098633" "subst" "3.25124E-5" "01943" "TSC2_001300" "g.2098633G>A" "" "" "" "TSC2(NM_000548.3):c.17G>A (p.S6N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048632G>A" "" "VUS" "" "0000317476" "0" "90" "16" "2120560" "2120560" "subst" "0" "01943" "TSC2_002000" "g.2120560C>A" "" "" "" "TSC2(NM_000548.3):c.1820C>A (p.A607E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070559C>A" "" "pathogenic" "" "0000317477" "0" "90" "16" "2120571" "2120571" "subst" "0" "01943" "TSC2_000053" "g.2120571C>T" "" "" "" "TSC2(NM_000548.3):c.1831C>T (p.R611W), TSC2(NM_000548.5):c.1831C>T (p.R611W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070570C>T" "" "pathogenic" "" "0000317478" "0" "90" "16" "2120572" "2120572" "subst" "0" "01943" "TSC2_000105" "g.2120572G>A" "" "" "" "TSC2(NM_000548.3):c.1832G>A (p.R611Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070571G>A" "" "pathogenic" "" "0000317479" "0" "10" "16" "2120598" "2120598" "subst" "1.22662E-5" "01943" "TSC2_003763" "g.2120598C>T" "" "" "" "TSC2(NM_000548.3):c.1839+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070597C>T" "" "benign" "" "0000317480" "0" "90" "16" "2120580" "2120580" "subst" "0" "01943" "TSC2_001122" "g.2120580G>T" "" "" "" "TSC2(NM_000548.3):c.1839+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070579G>T" "" "pathogenic" "" "0000317481" "0" "90" "16" "2120581" "2120581" "subst" "0" "01943" "TSC2_002661" "g.2120581T>C" "" "" "" "TSC2(NM_000548.3):c.1839+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070580T>C" "" "pathogenic" "" "0000317483" "0" "10" "16" "2120585" "2120585" "subst" "0.000432311" "01943" "TSC2_000425" "g.2120585G>A" "" "" "" "TSC2(NM_000548.3):c.1839+6G>A, TSC2(NM_000548.5):c.1839+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070584G>A" "" "benign" "" "0000317484" "0" "90" "16" "2121510" "2121510" "subst" "0" "01943" "TSC2_002183" "g.2121510G>C" "" "" "" "TSC2(NM_000548.3):c.1840-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071509G>C" "" "pathogenic" "" "0000317485" "0" "90" "16" "2121508" "2121508" "subst" "0" "01943" "TSC2_002185" "g.2121508C>G" "" "" "" "TSC2(NM_000548.3):c.1840-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071507C>G" "" "pathogenic" "" "0000317486" "0" "90" "16" "2121507" "2121525" "del" "0" "01943" "TSC2_003610" "g.2121507_2121525del" "" "" "" "TSC2(NM_000548.3):c.1840-4_1854delACAGGCCTTTGACTTCCTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071506_2071524del" "" "pathogenic" "" "0000317487" "0" "90" "16" "2121524" "2121524" "subst" "0" "01943" "TSC2_002818" "g.2121524T>C" "" "" "" "TSC2(NM_000548.3):c.1853T>C (p.L618P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071523T>C" "" "pathogenic" "" "0000317488" "0" "30" "16" "2100447" "2100447" "subst" "0" "01943" "TSC2_002011" "g.2100447G>A" "" "" "" "TSC2(NM_000548.3):c.185G>A (p.G62E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050446G>A" "" "likely benign" "" "0000317489" "0" "90" "16" "2121533" "2121533" "subst" "0" "01943" "TSC2_002186" "g.2121533T>C" "" "" "" "TSC2(NM_000548.3):c.1862T>C (p.L621P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071532T>C" "" "pathogenic" "" "0000317490" "0" "90" "16" "2121535" "2121535" "subst" "0" "01943" "TSC2_001196" "g.2121535C>T" "" "" "" "TSC2(NM_000548.3):c.1864C>T (p.R622W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071534C>T" "" "pathogenic" "" "0000317491" "0" "30" "16" "2121540" "2121540" "subst" "0.000341878" "01943" "TSC2_003304" "g.2121540C>T" "" "" "" "TSC2(NM_000548.3):c.1869C>T (p.A623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071539C>T" "" "likely benign" "" "0000317492" "0" "90" "16" "2121543" "2121543" "delins" "0" "01943" "TSC2_002187" "g.2121543delinsTT" "" "" "" "TSC2(NM_000548.3):c.1872delCinsTT (p.S625Ffs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071542delinsTT" "" "pathogenic" "" "0000317493" "0" "90" "16" "2121546" "2121547" "del" "0" "01943" "TSC2_002188" "g.2121546_2121547del" "" "" "" "TSC2(NM_000548.3):c.1875_1876delAC (p.L626Afs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071545_2071546del" "" "pathogenic" "" "0000317494" "0" "90" "16" "2100449" "2100449" "del" "0" "01943" "TSC2_002111" "g.2100449del" "" "" "" "TSC2(NM_000548.3):c.187delC (p.Q63Rfs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050448del" "" "pathogenic" "" "0000317495" "0" "30" "16" "2121556" "2121556" "subst" "0.000195308" "01943" "TSC2_003775" "g.2121556C>T" "" "" "" "TSC2(NM_000548.3):c.1885C>T (p.L629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071555C>T" "" "likely benign" "" "0000317497" "0" "90" "16" "2121618" "2121618" "subst" "0" "01943" "TSC2_002190" "g.2121618G>C" "" "" "" "TSC2(NM_000548.3):c.1946+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071617G>C" "" "pathogenic" "" "0000317498" "0" "30" "16" "2121641" "2121641" "subst" "0" "01943" "TSC2_003642" "g.2121641C>T" "" "" "" "TSC2(NM_000548.3):c.1946+24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071640C>T" "" "likely benign" "" "0000317499" "0" "90" "16" "2121619" "2121619" "subst" "0" "01943" "TSC2_002354" "g.2121619T>C" "" "" "" "TSC2(NM_000548.3):c.1946+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071618T>C" "" "pathogenic" "" "0000317500" "0" "30" "16" "2121617" "2121617" "subst" "0.000317903" "01943" "TSC2_000429" "g.2121617T>C" "" "" "" "TSC2(NM_000548.3):c.1946T>C (p.M649T), TSC2(NM_000548.5):c.1946T>C (p.M649T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071616T>C" "" "likely benign" "" "0000317501" "0" "90" "16" "2121825" "2121825" "dup" "0" "01943" "TSC2_000433" "g.2121825dup" "" "" "" "TSC2(NM_000548.3):c.1987dupC (p.L663Pfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071824dup" "" "pathogenic" "" "0000317502" "0" "10" "16" "2121869" "2121869" "subst" "0.00250745" "01943" "TSC2_000191" "g.2121869C>T" "" "" "" "TSC2(NM_000548.3):c.2031C>T (p.P677=, p.(Pro677=)), TSC2(NM_000548.5):c.2031C>T (p.P677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071868C>T" "" "benign" "" "0000317503" "0" "30" "16" "2121870" "2121870" "subst" "0.00106096" "01943" "TSC2_003308" "g.2121870G>A" "" "" "" "TSC2(NM_000548.3):c.2032G>A (p.A678T, p.(Ala678Thr)), TSC2(NM_000548.5):c.2032G>A (p.A678T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071869G>A" "" "likely benign" "" "0000317504" "0" "90" "16" "2121899" "2121905" "del" "0" "01943" "TSC2_001029" "g.2121899_2121905del" "" "" "" "TSC2(NM_000548.3):c.2061_2067delCCTGCTC (p.L688Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071898_2071904del" "" "pathogenic" "" "0000317506" "0" "10" "16" "2121911" "2121911" "subst" "0.000938692" "01943" "TSC2_000435" "g.2121911C>T" "" "" "" "TSC2(NM_000548.3):c.2073C>T (p.R691=), TSC2(NM_000548.5):c.2073C>T (p.R691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071910C>T" "" "benign" "" "0000317507" "0" "30" "16" "2122238" "2122238" "subst" "0" "01943" "TSC2_003612" "g.2122238G>A" "" "" "" "TSC2(NM_000548.3):c.2098-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072237G>A" "" "likely benign" "" "0000317508" "0" "50" "16" "2122235" "2122237" "del" "0" "01943" "TSC2_002516" "g.2122235_2122237del" "" "" "" "TSC2(NM_000548.3):c.2098-7_2098-5delCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072234_2072236del" "" "VUS" "" "0000317510" "0" "90" "16" "2122271" "2122271" "del" "0" "01943" "TSC2_002195" "g.2122271del" "" "" "" "TSC2(NM_000548.3):c.2127delT (p.L710Wfs*61)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072270del" "" "pathogenic" "" "0000317511" "0" "90" "16" "2122293" "2122293" "del" "0" "01943" "TSC2_002196" "g.2122293del" "" "" "" "TSC2(NM_000548.3):c.2149delC (p.L717Cfs*54)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072292del" "" "pathogenic" "" "0000317513" "0" "90" "16" "2122338" "2122338" "subst" "0" "01943" "TSC2_000249" "g.2122338C>T" "" "" "" "TSC2(NM_000548.3):c.2194C>T (p.Q732*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072337C>T" "" "pathogenic" "" "0000317514" "0" "90" "16" "2122341" "2122341" "subst" "0" "01943" "TSC2_002197" "g.2122341C>G" "" "" "" "TSC2(NM_000548.3):c.2197C>G (p.L733V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072340C>G" "" "pathogenic" "" "0000317515" "0" "90" "16" "2122343" "2122347" "del" "0" "01943" "TSC2_002198" "g.2122343_2122347del" "" "" "" "TSC2(NM_000548.3):c.2199_2203delGTGCT (p.A736Lfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072342_2072346del" "" "pathogenic" "" "0000317516" "0" "90" "16" "2122365" "2122365" "subst" "0" "01943" "TSC2_002199" "g.2122365G>A" "" "" "" "TSC2(NM_000548.3):c.2220+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072364G>A" "" "pathogenic" "" "0000317517" "0" "10" "16" "2122389" "2122389" "subst" "0.00118734" "01943" "TSC2_002200" "g.2122389G>C" "" "" "" "TSC2(NM_000548.3):c.2220+25G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072388G>C" "" "benign" "" "0000317518" "0" "90" "16" "2122366" "2122366" "subst" "0" "01943" "TSC2_002201" "g.2122366T>G" "" "" "" "TSC2(NM_000548.3):c.2220+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072365T>G" "" "pathogenic" "" "0000317519" "0" "10" "16" "2122396" "2122396" "del" "0" "01943" "TSC2_000548" "g.2122396del" "" "" "" "TSC2(NM_000548.3):c.2220+32delG, TSC2(NM_000548.5):c.2220+32delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072395del" "" "benign" "" "0000317521" "0" "90" "16" "2122854" "2122854" "subst" "0" "01943" "TSC2_000250" "g.2122854C>G" "" "" "" "TSC2(NM_000548.3):c.2225C>G (p.S742*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072853C>G" "" "pathogenic" "" "0000317522" "0" "90" "16" "2122860" "2122860" "del" "0" "01943" "TSC2_002357" "g.2122860del" "" "" "" "TSC2(NM_000548.3):c.2231delC (p.P744Qfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072859del" "" "pathogenic" "" "0000317523" "0" "10" "16" "2122868" "2122868" "subst" "0.00118286" "01943" "TSC2_000449" "g.2122868C>T" "" "" "" "TSC2(NM_000548.3):c.2239C>T (p.L747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072867C>T" "" "benign" "" "0000317524" "0" "50" "16" "2100485" "2100485" "subst" "0.000113831" "01943" "TSC2_001225" "g.2100485G>A" "" "" "" "TSC2(NM_001114382.2):c.223G>A (p.E75K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050484G>A" "" "VUS" "" "0000317525" "0" "90" "16" "2100489" "2100489" "subst" "0" "01943" "TSC2_002113" "g.2100489T>A" "" "" "" "TSC2(NM_000548.3):c.225+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050488T>A" "" "pathogenic" "" "0000317526" "0" "10" "16" "2100518" "2100519" "del" "0" "01943" "TSC2_000893" "g.2100518_2100519del" "" "" "" "TSC2(NM_000548.3):c.225+31_225+32delAG, TSC2(NM_000548.5):c.225+31_225+32delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050517_2050518del" "" "benign" "" "0000317527" "0" "90" "16" "2122880" "2122880" "subst" "0" "01943" "TSC2_000197" "g.2122880C>T" "" "" "" "TSC2(NM_000548.3):c.2251C>T (p.R751*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072879C>T" "" "pathogenic" "" "0000317528" "0" "90" "16" "2103342" "2103342" "subst" "0" "01943" "TSC2_002329" "g.2103342G>A" "" "" "" "TSC2(NM_000548.3):c.226-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053341G>A" "" "pathogenic" "" "0000317529" "0" "90" "16" "2122947" "2122947" "subst" "0" "01943" "TSC2_002203" "g.2122947T>G" "" "" "" "TSC2(NM_000548.3):c.2318T>G (p.L773*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072946T>G" "" "pathogenic" "" "0000317530" "0" "90" "16" "2122982" "2122982" "subst" "0" "01943" "TSC2_000708" "g.2122982C>T" "" "" "" "TSC2(NM_000548.3):c.2353C>T (p.Q785*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072981C>T" "" "pathogenic" "" "0000317531" "0" "90" "16" "2122985" "2122985" "subst" "0" "01943" "TSC2_000673" "g.2122985G>A" "" "" "" "TSC2(NM_000548.3):c.2355+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072984G>A" "" "pathogenic" "" "0000317532" "0" "90" "16" "2122986" "2122989" "del" "0" "01943" "TSC2_000254" "g.2122986_2122989del" "" "" "" "TSC2(NM_000548.3):c.2355+2_2355+5delTAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072985_2072988del" "" "pathogenic" "" "0000317533" "0" "30" "16" "2123008" "2123008" "subst" "0.000346077" "01943" "TSC2_003614" "g.2123008C>T" "" "" "" "TSC2(NM_000548.3):c.2355+24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2073007C>T" "" "likely benign" "" "0000317534" "0" "30" "16" "2123027" "2123041" "del" "0" "01943" "TSC2_003615" "g.2123027_2123041del" "" "" "" "TSC2(NM_000548.3):c.2355+43_2355+57delGATTCGAGGGCCTGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2073026_2073040del" "" "likely benign" "" "0000317535" "0" "90" "16" "2124204" "2124204" "subst" "0" "01943" "TSC2_000454" "g.2124204G>T" "" "" "" "TSC2(NM_000548.3):c.2359G>T (p.E787*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074203G>T" "" "pathogenic" "" "0000317536" "0" "90" "16" "2124215" "2124215" "subst" "0" "01943" "TSC2_002204" "g.2124215C>A" "" "" "" "TSC2(NM_000548.3):c.2370C>A (p.Y790*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074214C>A" "" "pathogenic" "" "0000317539" "0" "90" "16" "2124255" "2124255" "subst" "0" "01943" "TSC2_001116" "g.2124255T>C" "" "" "" "TSC2(NM_000548.3):c.2410T>C (p.C804R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074254T>C" "" "pathogenic" "" "0000317540" "0" "90" "16" "2124269" "2124271" "delins" "0" "01943" "TSC2_002206" "g.2124269_2124271delinsT" "" "" "" "TSC2(NM_000548.3):c.2424_2426delGTCinsT (p.L808Ffs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074268_2074270delinsT" "" "pathogenic" "" "0000317541" "0" "10" "16" "2124272" "2124272" "subst" "0.000183152" "01943" "TSC2_002207" "g.2124272C>T" "" "" "" "TSC2(NM_000548.3):c.2427C>T (p.S809=), TSC2(NM_000548.5):c.2427C>T (p.S809=, p.(Ser809=)), TSC2(NM_001114382.2):c.2427C>T (p.S809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074271C>T" "" "benign" "" "0000317542" "0" "90" "16" "2124285" "2124285" "subst" "0" "01943" "TSC2_000460" "g.2124285G>A" "" "" "" "TSC2(NM_000548.3):c.2440G>A (p.E814K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074284G>A" "" "pathogenic" "" "0000317543" "0" "90" "16" "2124304" "2124306" "del" "0" "01943" "TSC2_000461" "g.2124304_2124306del" "" "" "" "TSC2(NM_000548.3):c.2459_2461delTCA (p.I820del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074303_2074305del" "" "pathogenic" "" "0000317544" "0" "10" "16" "2124321" "2124321" "subst" "0.000663497" "01943" "TSC2_000132" "g.2124321C>A" "" "" "" "TSC2(NM_000548.3):c.2476C>A (p.L826M), TSC2(NM_000548.5):c.2476C>A (p.L826M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074320C>A" "" "benign" "" "0000317545" "0" "90" "16" "2124334" "2124334" "subst" "0" "01943" "TSC2_003616" "g.2124334T>C" "" "" "" "TSC2(NM_000548.3):c.2489T>C (p.L830P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074333T>C" "" "pathogenic" "" "0000317546" "0" "10" "16" "2103368" "2103368" "subst" "0.000326174" "01943" "TSC2_000718" "g.2103368C>T" "" "" "" "TSC2(NM_000548.3):c.251C>T (p.A84V), TSC2(NM_000548.5):c.251C>T (p.A84V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053367C>T" "" "benign" "" "0000317547" "0" "30" "16" "2124366" "2124366" "subst" "0" "01943" "TSC2_002617" "g.2124366G>A" "" "" "" "TSC2(NM_000548.3):c.2521G>A (p.V841I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074365G>A" "" "likely benign" "" "0000317548" "0" "10" "16" "2124416" "2124416" "subst" "0.00281194" "01943" "TSC2_000468" "g.2124416G>A" "" "" "" "TSC2(NM_000548.3):c.2545+26G>A, TSC2(NM_000548.5):c.2545+26G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074415G>A" "" "benign" "" "0000317549" "0" "90" "16" "2124392" "2124392" "subst" "0" "01943" "TSC2_002208" "g.2124392T>C" "" "" "" "TSC2(NM_000548.3):c.2545+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074391T>C" "" "pathogenic" "" "0000317550" "0" "10" "16" "2124421" "2124421" "subst" "0.00129581" "01943" "TSC2_000469" "g.2124421C>T" "" "" "" "TSC2(NM_000548.3):c.2545+31C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074420C>T" "" "benign" "" "0000317551" "0" "10" "16" "2124485" "2124485" "dup" "0" "01943" "TSC2_002360" "g.2124485dup" "" "" "" "TSC2(NM_000548.3):c.2545+95dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074484dup" "" "benign" "" "0000317552" "0" "10" "16" "2125788" "2125788" "subst" "0.0948179" "01943" "TSC2_000312" "g.2125788C>T" "" "" "" "TSC2(NM_000548.3):c.2546-12C>T, TSC2(NM_000548.5):c.2546-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075787C>T" "" "benign" "" "0000317553" "0" "10" "16" "2125769" "2125769" "subst" "0.0105874" "01943" "TSC2_002361" "g.2125769G>A" "" "" "" "TSC2(NM_000548.3):c.2546-31G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075768G>A" "" "benign" "" "0000317554" "0" "90" "16" "2125760" "2125773" "del" "0" "01943" "TSC2_002209" "g.2125760_2125773del" "" "" "" "TSC2(NM_000548.3):c.2546-40_2546-27delGGGACCCCGGCTCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075759_2075772del" "" "pathogenic" "" "0000317555" "0" "10" "16" "2103372" "2103372" "subst" "0.0011761" "01943" "TSC2_000074" "g.2103372C>T" "" "" "" "TSC2(NM_000548.3):c.255C>T (p.(Val85=)), TSC2(NM_000548.5):c.255C>T (p.V85=), TSC2(NM_001114382.2):c.255C>T (p.V85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053371C>T" "" "benign" "" "0000317556" "0" "10" "16" "2125834" "2125834" "subst" "0.0703171" "01943" "TSC2_000054" "g.2125834T>C" "" "" "" "TSC2(NM_000548.3):c.2580T>C (p.F860=), TSC2(NM_000548.5):c.2580T>C (p.F860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075833T>C" "" "benign" "" "0000317557" "0" "90" "16" "2125844" "2125844" "subst" "0" "01943" "TSC2_000133" "g.2125844C>T" "" "" "" "TSC2(NM_000548.3):c.2590C>T (p.Q864*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075843C>T" "" "pathogenic" "" "0000317559" "0" "10" "16" "2125908" "2125908" "subst" "0" "01943" "TSC2_002210" "g.2125908C>T" "" "" "" "TSC2(NM_000548.3):c.2639+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075907C>T" "" "benign" "" "0000317560" "0" "10" "16" "2125935" "2125935" "subst" "0.00027307" "01943" "TSC2_002211" "g.2125935C>T" "" "" "" "TSC2(NM_000548.3):c.2639+42C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075934C>T" "" "benign" "" "0000317561" "0" "10" "16" "2125937" "2125937" "subst" "0.106649" "01943" "TSC2_000206" "g.2125937C>G" "" "" "" "TSC2(NM_000548.3):c.2639+44C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075936C>G" "" "benign" "" "0000317562" "0" "90" "16" "2125898" "2125898" "subst" "0" "01943" "TSC2_002212" "g.2125898G>A" "" "" "" "TSC2(NM_000548.3):c.2639+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075897G>A" "" "pathogenic" "" "0000317563" "0" "90" "16" "2126068" "2126068" "subst" "0" "01943" "TSC2_002213" "g.2126068G>A" "" "" "" "TSC2(NM_000548.3):c.2640-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076067G>A" "" "pathogenic" "" "0000317564" "0" "10" "16" "2126043" "2126043" "subst" "0.000781193" "01943" "TSC2_000953" "g.2126043G>T" "" "" "" "TSC2(NM_000548.3):c.2640-26G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076042G>T" "" "benign" "" "0000317565" "0" "90" "16" "2126116" "2126116" "subst" "0" "01943" "TSC2_000553" "g.2126116G>A" "" "" "" "TSC2(NM_000548.3):c.2687G>A (p.W896*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076115G>A" "" "pathogenic" "" "0000317566" "0" "90" "16" "2103386" "2103389" "del" "0" "01943" "TSC2_002115" "g.2103386_2103389del" "" "" "" "TSC2(NM_000548.3):c.269_272delAGCC (p.Q90Rfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053385_2053388del" "" "pathogenic" "" "0000317567" "0" "90" "16" "2126119" "2126119" "subst" "0" "01943" "TSC2_000313" "g.2126119T>C" "" "" "" "TSC2(NM_000548.3):c.2690T>C (p.F897S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076118T>C" "" "pathogenic" "" "0000317568" "0" "90" "16" "2126142" "2126142" "subst" "0" "01943" "TSC2_000110" "g.2126142C>T" "" "" "" "TSC2(NM_000548.3):c.2713C>T (p.R905W), TSC2(NM_000548.5):c.2713C>T (p.R905W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076141C>T" "" "pathogenic" "" "0000317569" "0" "90" "16" "2126142" "2126142" "del" "0" "01943" "TSC2_002216" "g.2126142del" "" "" "" "TSC2(NM_000548.3):c.2713delC (p.R905Gfs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076141del" "" "pathogenic" "" "0000317570" "0" "90" "16" "2126143" "2126143" "subst" "0" "01943" "TSC2_000134" "g.2126143G>A" "" "" "" "TSC2(NM_000548.3):c.2714G>A (p.R905Q), TSC2(NM_000548.5):c.2714G>A (p.R905Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076142G>A" "" "pathogenic" "" "0000317571" "0" "90" "16" "2126150" "2126150" "delins" "0" "01943" "TSC2_002363" "g.2126150delinsAG" "" "" "" "TSC2(NM_000548.3):c.2721delTinsAG (p.D907Efs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076149delinsAG" "" "pathogenic" "" "0000317572" "0" "10" "16" "2103389" "2103389" "subst" "0.000903667" "01943" "TSC2_000346" "g.2103389C>T" "" "" "" "TSC2(NM_000548.3):c.272C>T (p.P91L), TSC2(NM_000548.5):c.272C>T (p.P91L), TSC2(NM_001370404.1):c.272C>T (p.P91L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053388C>T" "" "benign" "" "0000317573" "0" "90" "16" "2126166" "2126167" "del" "0" "01943" "TSC2_002217" "g.2126166_2126167del" "" "" "" "TSC2(NM_000548.3):c.2737_2738delAC (p.T913*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076165_2076166del" "" "pathogenic" "" "0000317574" "0" "90" "16" "2126172" "2126172" "subst" "0" "01943" "TSC2_000260" "g.2126172G>A" "" "" "" "TSC2(NM_000548.3):c.2742+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076171G>A" "" "pathogenic" "" "0000317575" "0" "90" "16" "2126173" "2126173" "subst" "0" "01943" "TSC2_003160" "g.2126173T>C" "" "" "" "TSC2(NM_000548.3):c.2742+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076172T>C" "" "pathogenic" "" "0000317576" "0" "90" "16" "2126176" "2126176" "subst" "0" "01943" "TSC2_002218" "g.2126176G>A" "" "" "" "TSC2(NM_000548.3):c.2742+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076175G>A" "" "pathogenic" "" "0000317578" "0" "90" "16" "2126483" "2126483" "subst" "0" "01943" "TSC2_001993" "g.2126483C>G" "" "" "" "TSC2(NM_000548.3):c.2743-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076482C>G" "" "pathogenic" "" "0000317579" "0" "90" "16" "2126496" "2126496" "subst" "0" "01943" "TSC2_001091" "g.2126496T>G" "" "" "" "TSC2(NM_000548.3):c.2747T>G (p.L916R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076495T>G" "" "pathogenic" "" "0000317580" "0" "10" "16" "2126499" "2126499" "subst" "8.53749E-5" "01943" "TSC2_002364" "g.2126499G>A" "" "" "" "TSC2(NM_000548.3):c.2750G>A (p.R917Q), TSC2(NM_000548.5):c.2750G>A (p.R917Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076498G>A" "" "benign" "" "0000317581" "0" "30" "16" "2126515" "2126515" "subst" "1.21932E-5" "01943" "TSC2_003617" "g.2126515G>A" "" "" "" "TSC2(NM_000548.3):c.2766G>A (p.L922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076514G>A" "" "likely benign" "" "0000317582" "0" "90" "16" "2126516" "2126518" "delins" "0" "01943" "TSC2_002220" "g.2126516_2126518delinsCC" "" "" "" "TSC2(NM_000548.3):c.2767_2769delTCTinsCC (p.S923Pfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076515_2076517delinsCC" "" "pathogenic" "" "0000317583" "0" "30" "16" "2126572" "2126572" "subst" "6.10322E-5" "01943" "TSC2_003873" "g.2126572C>T" "" "" "" "TSC2(NM_000548.3):c.2823C>T (p.N941=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076571C>T" "" "likely benign" "" "0000317584" "0" "10" "16" "2126602" "2126602" "subst" "0" "01943" "TSC2_002365" "g.2126602G>A" "" "" "" "TSC2(NM_000548.3):c.2837+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076601G>A" "" "benign" "" "0000317585" "0" "90" "16" "2127477" "2127477" "subst" "0" "01943" "TSC2_002847" "g.2127477G>A" "" "" "" "TSC2(NM_000548.3):c.2838-122G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077476G>A" "" "pathogenic" "" "0000317586" "0" "10" "16" "2127620" "2127620" "subst" "0" "01943" "TSC2_002367" "g.2127620C>T" "" "" "" "TSC2(NM_000548.3):c.2859C>T (p.P953=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077619C>T" "" "benign" "" "0000317587" "0" "90" "16" "2127620" "2127620" "del" "0" "01943" "TSC2_003583" "g.2127620del" "" "" "" "TSC2(NM_000548.3):c.2859delC (p.K954Nfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077619del" "" "pathogenic" "" "0000317588" "0" "70" "16" "2103409" "2103409" "subst" "0" "01943" "TSC2_001996" "g.2103409C>T" "" "" "" "TSC2(NM_000548.3):c.292C>T (p.R98W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053408C>T" "" "likely pathogenic" "" "0000317589" "0" "10" "16" "2127724" "2127724" "subst" "6.9269E-5" "01943" "TSC2_002021" "g.2127724G>C" "" "" "" "TSC2(NM_000548.3):c.2963G>C (p.R988P), TSC2(NM_000548.5):c.2963G>C (p.R988P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077723G>C" "" "benign" "" "0000317592" "0" "90" "16" "2129040" "2129040" "subst" "0" "01943" "TSC2_000137" "g.2129040C>T" "" "" "" "TSC2(NM_000548.3):c.2974C>T (p.Q992*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079039C>T" "" "pathogenic" "" "0000317593" "0" "10" "16" "2129045" "2129045" "subst" "0.000863178" "01943" "TSC2_000491" "g.2129045G>A" "" "" "" "TSC2(NM_000548.3):c.2979G>A (p.T993=, p.(Thr993=)), TSC2(NM_000548.5):c.2979G>A (p.T993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079044G>A" "" "benign" "" "0000317594" "0" "30" "16" "2129049" "2129049" "subst" "4.07057E-6" "01943" "TSC2_003618" "g.2129049C>A" "" "" "" "TSC2(NM_000548.3):c.2983C>A (p.L995I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079048C>A" "" "likely benign" "" "0000317595" "0" "90" "16" "2129054" "2129054" "del" "0" "01943" "TSC2_002221" "g.2129054del" "" "" "" "TSC2(NM_000548.3):c.2988delC (p.S997Vfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079053del" "" "pathogenic" "" "0000317596" "0" "90" "16" "2103416" "2103416" "del" "0" "01943" "TSC2_003594" "g.2103416del" "" "" "" "TSC2(NM_000548.3):c.299delC (p.A100Gfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053415del" "" "pathogenic" "" "0000317597" "0" "10" "16" "2129088" "2129088" "subst" "2.03384E-5" "01943" "TSC2_002370" "g.2129088G>A" "" "" "" "TSC2(NM_000548.3):c.3022G>A (p.V1008M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079087G>A" "" "benign" "" "0000317598" "0" "30" "16" "2129102" "2129102" "subst" "0.000130161" "01943" "TSC2_001209" "g.2129102C>T" "" "" "" "TSC2(NM_000548.3):c.3036C>T (p.D1012=), TSC2(NM_000548.5):c.3036C>T (p.D1012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079101C>T" "" "likely benign" "" "0000317599" "0" "90" "16" "2129124" "2129124" "dup" "0" "01943" "TSC2_002223" "g.2129124dup" "" "" "" "TSC2(NM_000548.3):c.3058dupC (p.L1020Pfs*148)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079123dup" "" "pathogenic" "" "0000317600" "0" "90" "16" "2129148" "2129148" "subst" "0" "01943" "TSC2_000496" "g.2129148G>A" "" "" "" "TSC2(NM_000548.3):c.3082G>A (p.D1028N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079147G>A" "" "pathogenic" "" "0000317601" "0" "90" "16" "2129160" "2129160" "subst" "0" "01943" "TSC2_000492" "g.2129160C>T" "" "" "" "TSC2(NM_000548.3):c.3094C>T (p.R1032*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079159C>T" "" "pathogenic" "" "0000317602" "0" "90" "16" "2129161" "2129161" "subst" "0" "01943" "TSC2_000739" "g.2129161G>C" "" "" "" "TSC2(NM_000548.3):c.3095G>C (p.R1032P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079160G>C" "" "pathogenic" "" "0000317604" "0" "90" "16" "2129165" "2129165" "subst" "0" "01943" "TSC2_000494" "g.2129165C>A" "" "" "" "TSC2(NM_000548.3):c.3099C>A (p.Y1033*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079164C>A" "" "pathogenic" "" "0000317605" "0" "90" "16" "2129165" "2129165" "subst" "0" "01943" "TSC2_001057" "g.2129165C>G" "" "" "" "TSC2(NM_000548.3):c.3099C>G (p.Y1033*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079164C>G" "" "pathogenic" "" "0000317606" "0" "10" "16" "2129192" "2129192" "subst" "0.00313342" "01943" "TSC2_000499" "g.2129192G>C" "" "" "" "TSC2(NM_000548.3):c.3126G>C (p.P1042=), TSC2(NM_000548.5):c.3126G>C (p.P1042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079191G>C" "" "benign" "" "0000317607" "0" "30" "16" "2129192" "2129192" "subst" "0.000105804" "01943" "TSC2_000760" "g.2129192G>T" "" "" "" "TSC2(NM_000548.3):c.3126G>T (p.P1042=), TSC2(NM_000548.5):c.3126G>T (p.P1042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079191G>T" "" "likely benign" "" "0000317608" "0" "90" "16" "2129198" "2129198" "subst" "0" "01943" "TSC2_000722" "g.2129198G>A" "" "" "" "TSC2(NM_000548.3):c.3131+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079197G>A" "" "pathogenic" "" "0000317609" "0" "90" "16" "2129199" "2129199" "subst" "0" "01943" "TSC2_002224" "g.2129199T>C" "" "" "" "TSC2(NM_000548.3):c.3131+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079198T>C" "" "pathogenic" "" "0000317610" "0" "30" "16" "2129231" "2129231" "subst" "0.000659384" "01943" "TSC2_000501" "g.2129231C>T" "" "" "" "TSC2(NM_000548.3):c.3131+34C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079230C>T" "" "likely benign" "" "0000317611" "0" "90" "16" "2129197" "2129197" "subst" "0" "01943" "TSC2_002226" "g.2129197G>T" "" "" "" "TSC2(NM_000548.3):c.3131G>T (p.R1044M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079196G>T" "" "pathogenic" "" "0000317612" "0" "10" "16" "2129267" "2129267" "subst" "4.06914E-6" "01943" "TSC2_002371" "g.2129267T>C" "" "" "" "TSC2(NM_000548.3):c.3132-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079266T>C" "" "benign" "" "0000317613" "0" "10" "16" "2129261" "2129261" "subst" "6.10426E-5" "01943" "TSC2_002372" "g.2129261G>A" "" "" "" "TSC2(NM_000548.3):c.3132-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079260G>A" "" "benign" "" "0000317614" "0" "90" "16" "2129276" "2129276" "subst" "0" "01943" "TSC2_000265" "g.2129276G>C" "" "" "" "TSC2(NM_000548.3):c.3132-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079275G>C" "" "pathogenic" "" "0000317615" "0" "50" "16" "2103431" "2103431" "subst" "0" "01943" "TSC2_003592" "g.2103431T>C" "" "" "" "TSC2(NM_000548.3):c.314T>C (p.L105P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053430T>C" "" "VUS" "" "0000317616" "0" "90" "16" "2129325" "2129325" "subst" "0" "01943" "TSC2_003453" "g.2129325G>A" "" "" "" "TSC2(NM_000548.3):c.3180G>A (p.W1060*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079324G>A" "" "pathogenic" "" "0000317617" "0" "90" "16" "2129327" "2129327" "subst" "0" "01943" "TSC2_002022" "g.2129327T>C" "" "" "" "TSC2(NM_000548.3):c.3182T>C (p.L1061P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079326T>C" "" "pathogenic" "" "0000317618" "0" "90" "16" "2129348" "2129348" "subst" "0" "01943" "TSC2_002001" "g.2129348C>T" "" "" "" "TSC2(NM_000548.3):c.3203C>T (p.T1068I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079347C>T" "" "pathogenic" "" "0000317619" "0" "30" "16" "2129369" "2129369" "subst" "0" "01943" "TSC2_002002" "g.2129369C>T" "" "" "" "TSC2(NM_000548.3):c.3224C>T (p.T1075I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079368C>T" "" "likely benign" "" "0000317620" "0" "30" "16" "2129370" "2129370" "subst" "4.07126E-5" "01943" "TSC2_002003" "g.2129370C>T" "" "" "" "TSC2(NM_000548.3):c.3225C>T (p.T1075=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079369C>T" "" "likely benign" "" "0000317621" "0" "90" "16" "2129381" "2129381" "subst" "0" "01943" "TSC2_002094" "g.2129381C>A" "" "" "" "TSC2(NM_000548.3):c.3236C>A (p.S1079*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079380C>A" "" "pathogenic" "" "0000317622" "0" "90" "16" "2129404" "2129406" "delins" "0" "01943" "TSC2_002228" "g.2129404_2129406delinsAA" "" "" "" "TSC2(NM_000548.3):c.3259_3261delGAGinsAA (p.E1087Nfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079403_2079405delinsAA" "" "pathogenic" "" "0000317623" "0" "90" "16" "2129404" "2129404" "del" "0" "01943" "TSC2_002229" "g.2129404del" "" "" "" "TSC2(NM_000548.3):c.3259delG (p.E1087Sfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079403del" "" "pathogenic" "" "0000317624" "0" "90" "16" "2129410" "2129410" "subst" "0" "01943" "TSC2_000138" "g.2129410C>T" "" "" "" "TSC2(NM_000548.3):c.3265C>T (p.Q1089*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079409C>T" "" "pathogenic" "" "0000317625" "0" "90" "16" "2129420" "2129420" "del" "0" "01943" "TSC2_002230" "g.2129420del" "" "" "" "TSC2(NM_000548.3):c.3275delC (p.P1092Rfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079419del" "" "pathogenic" "" "0000317626" "0" "30" "16" "2129421" "2129421" "subst" "4.08017E-6" "01943" "TSC2_003919" "g.2129421G>C" "" "" "" "TSC2(NM_001114382.2):c.3276G>C (p.P1092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079420G>C" "" "likely benign" "" "0000317627" "0" "10" "16" "2129426" "2129426" "subst" "0.000151001" "01943" "TSC2_002373" "g.2129426C>T" "" "" "" "TSC2(NM_000548.3):c.3281C>T (p.S1094L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079425C>T" "" "benign" "" "0000317628" "0" "10" "16" "2129474" "2129474" "subst" "0.000470238" "01943" "TSC2_002231" "g.2129474G>A" "" "" "" "TSC2(NM_000548.3):c.3284+45G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079473G>A" "" "benign" "" "0000317629" "0" "90" "16" "2103445" "2103445" "subst" "0" "01943" "TSC2_002469" "g.2103445C>T" "" "" "" "TSC2(NM_000548.3):c.328C>T (p.Q110*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053444C>T" "" "pathogenic" "" "0000317630" "0" "90" "16" "2129567" "2129567" "del" "0" "01943" "TSC2_002234" "g.2129567del" "" "" "" "TSC2(NM_000548.3):c.3294delC (p.V1100Cfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079566del" "" "pathogenic" "" "0000317632" "0" "90" "16" "2129583" "2129583" "subst" "0" "01943" "TSC2_002236" "g.2129583C>T" "" "" "" "TSC2(NM_000548.3):c.3310C>T (p.Q1104*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079582C>T" "" "pathogenic" "" "0000317633" "0" "50" "16" "2129587" "2129587" "subst" "0" "01943" "TSC2_003927" "g.2129587C>T" "" "" "" "TSC2(NM_000548.3):c.3314C>T (p.T1105I), TSC2(NM_000548.5):c.3314C>T (p.T1105I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079586C>T" "" "VUS" "" "0000317634" "0" "30" "16" "2129591" "2129591" "subst" "0" "01943" "TSC2_003928" "g.2129591G>A" "" "" "" "TSC2(NM_000548.3):c.3318G>A (p.K1106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079590G>A" "" "likely benign" "" "0000317635" "0" "90" "16" "2129610" "2129610" "dup" "0" "01943" "TSC2_002238" "g.2129610dup" "" "" "" "TSC2(NM_000548.3):c.3337dupG (p.E1113Gfs*55)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079609dup" "" "pathogenic" "" "0000317636" "0" "90" "16" "2129628" "2129628" "subst" "0" "01943" "TSC2_000512" "g.2129628C>T" "" "" "" "TSC2(NM_000548.3):c.3355C>T (p.Q1119*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079627C>T" "" "pathogenic" "" "0000317638" "0" "10" "16" "2103485" "2103485" "subst" "0.00495738" "01943" "TSC2_000046" "g.2103485C>T" "" "" "" "TSC2(NM_000548.3):c.336+32C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053484C>T" "" "benign" "" "0000317639" "0" "90" "16" "2129671" "2129671" "subst" "0" "01943" "TSC2_001062" "g.2129671G>A" "" "" "" "TSC2(NM_000548.3):c.3397+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079670G>A" "" "pathogenic" "" "0000317640" "0" "50" "16" "2129675" "2129675" "subst" "0" "01943" "TSC2_002239" "g.2129675G>T" "" "" "" "TSC2(NM_000548.3):c.3397+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079674G>T" "" "VUS" "" "0000317641" "0" "90" "16" "2104300" "2104300" "subst" "0" "01943" "TSC2_002118" "g.2104300G>T" "" "" "" "TSC2(NM_000548.3):c.340G>T (p.E114*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054299G>T" "" "pathogenic" "" "0000317642" "0" "90" "16" "2130180" "2130180" "subst" "0" "01943" "TSC2_000267" "g.2130180C>T" "" "" "" "TSC2(NM_000548.3):c.3412C>T (p.R1138*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080179C>T" "" "pathogenic" "" "0000317644" "0" "10" "16" "2130190" "2130190" "subst" "0.00137166" "01943" "TSC2_000515" "g.2130190C>T" "" "" "" "TSC2(NM_000548.3):c.3422C>T (p.A1141V), TSC2(NM_000548.5):c.3422C>T (p.A1141V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080189C>T" "" "benign" "" "0000317645" "0" "30" "16" "2130198" "2130198" "subst" "0.00024421" "01943" "TSC2_001198" "g.2130198G>A" "" "" "" "TSC2(NM_000548.3):c.3430G>A (p.V1144M, p.(Val1144Met)), TSC2(NM_000548.5):c.3430G>A (p.V1144M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080197G>A" "" "likely benign" "" "0000317646" "0" "10" "16" "2130202" "2130202" "subst" "3.25598E-5" "01943" "TSC2_001199" "g.2130202C>T" "" "" "" "TSC2(NM_000548.3):c.3434C>T (p.P1145L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080201C>T" "" "benign" "" "0000317647" "0" "90" "16" "2104303" "2104303" "del" "0" "01943" "TSC2_002119" "g.2104303del" "" "" "" "TSC2(NM_000548.3):c.343delC (p.R115Vfs*67)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054302del" "" "pathogenic" "" "0000317648" "0" "10" "16" "2130250" "2130250" "subst" "2.85072E-5" "01943" "TSC2_002407" "g.2130250C>T" "" "" "" "TSC2(NM_000548.3):c.3482C>T (p.A1161V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080249C>T" "" "benign" "" "0000317649" "0" "10" "16" "2130259" "2130259" "subst" "0.000134333" "01943" "TSC2_000519" "g.2130259C>T" "" "" "" "TSC2(NM_000548.3):c.3491C>T (p.A1164V), TSC2(NM_000548.5):c.3491C>T (p.A1164V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080258C>T" "" "benign" "" "0000317650" "0" "50" "16" "2130322" "2130322" "subst" "8.15341E-6" "01943" "TSC2_003941" "g.2130322C>T" "" "" "" "TSC2(NM_000548.3):c.3554C>T (p.A1185V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080321C>T" "" "VUS" "" "0000317651" "0" "90" "16" "2130349" "2130349" "subst" "0" "01943" "TSC2_001200" "g.2130349G>A" "" "" "" "TSC2(NM_000548.3):c.3581G>A (p.W1194*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080348G>A" "" "pathogenic" "" "0000317652" "0" "90" "16" "2130364" "2130364" "subst" "0" "01943" "TSC2_002004" "g.2130364T>G" "" "" "" "TSC2(NM_000548.3):c.3596T>G (p.V1199G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080363T>G" "" "pathogenic" "" "0000317653" "0" "90" "16" "2130366" "2130366" "subst" "0" "01943" "TSC2_000056" "g.2130366C>T" "" "" "" "TSC2(NM_000548.3):c.3598C>T (p.R1200W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080365C>T" "" "pathogenic" "" "0000317654" "0" "90" "16" "2130367" "2130367" "subst" "0" "01943" "TSC2_002240" "g.2130367G>C" "" "" "" "TSC2(NM_000548.3):c.3599G>C (p.R1200P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080366G>C" "" "pathogenic" "" "0000317655" "0" "90" "16" "2130368" "2130368" "del" "0" "01943" "TSC2_003619" "g.2130368del" "" "" "" "TSC2(NM_000548.3):c.3600delG (p.R1201Gfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080367del" "" "pathogenic" "" "0000317656" "0" "90" "16" "2130373" "2130373" "subst" "0" "01943" "TSC2_002024" "g.2130373C>A" "" "" "" "TSC2(NM_000548.3):c.3605C>A (p.P1202H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080372C>A" "" "pathogenic" "" "0000317657" "0" "90" "16" "2130373" "2130373" "subst" "0" "01943" "TSC2_002241" "g.2130373C>G" "" "" "" "TSC2(NM_000548.3):c.3605C>G (p.P1202R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080372C>G" "" "pathogenic" "" "0000317659" "0" "30" "16" "2130387" "2130387" "subst" "0.000561737" "01943" "TSC2_000317" "g.2130387C>T" "" "" "" "TSC2(NM_000548.3):c.3610+9C>T, TSC2(NM_000548.5):c.3610+9C>T, TSC2(NM_001114382.2):c.3610+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080386C>T" "" "likely benign" "" "0000317660" "0" "90" "16" "2131597" "2131597" "del" "0" "01943" "TSC2_002243" "g.2131597del" "" "" "" "TSC2(NM_000548.3):c.3612delG (p.N1205Tfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081596del" "" "pathogenic" "" "0000317661" "0" "90" "16" "2131608" "2131608" "subst" "0" "01943" "TSC2_002244" "g.2131608G>A" "" "" "" "TSC2(NM_000548.3):c.3623G>A (p.W1208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081607G>A" "" "pathogenic" "" "0000317662" "0" "90" "16" "2131638" "2131655" "del" "0" "01943" "TSC2_002246" "g.2131638_2131655del" "" "" "" "TSC2(NM_000548.3):c.3653_3670delCTTTCTCCTCGGACATCA (p.P1218_N1224delinsH)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081637_2081654del" "" "pathogenic" "" "0000317663" "0" "90" "16" "2131647" "2131647" "subst" "0" "01943" "TSC2_000067" "g.2131647C>A" "" "" "" "TSC2(NM_000548.3):c.3662C>A (p.S1221*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081646C>A" "" "pathogenic" "" "0000317664" "0" "90" "16" "2131678" "2131681" "del" "0" "01943" "TSC2_000531" "g.2131678_2131681del" "" "" "" "TSC2(NM_000548.3):c.3693_3696delGTCT (p.S1232Tfs*92)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081677_2081680del" "" "pathogenic" "" "0000317667" "0" "30" "16" "2131692" "2131692" "subst" "0" "01943" "TSC2_003586" "g.2131692T>C" "" "" "" "TSC2(NM_000548.3):c.3707T>C (p.M1236T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081691T>C" "" "likely benign" "" "0000317668" "0" "90" "16" "2131697" "2131697" "del" "0" "01943" "TSC2_002248" "g.2131697del" "" "" "" "TSC2(NM_000548.3):c.3712delG (p.A1238Lfs*87)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081696del" "" "pathogenic" "" "0000317669" "0" "30" "16" "2131708" "2131708" "subst" "0.000240349" "01943" "TSC2_000255" "g.2131708C>T" "" "" "" "TSC2(NM_000548.5):c.3723C>T (p.F1241=), TSC2(NM_001114382.2):c.3723C>T (p.F1241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081707C>T" "" "likely benign" "" "0000317670" "0" "90" "16" "2131735" "2131735" "subst" "0" "01943" "TSC2_000528" "g.2131735C>G" "" "" "" "TSC2(NM_000548.3):c.3750C>G (p.Y1250*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081734C>G" "" "pathogenic" "" "0000317671" "0" "30" "16" "2131747" "2131747" "subst" "4.07854E-5" "01943" "TSC2_003967" "g.2131747G>A" "" "" "" "TSC2(NM_001114382.2):c.3762G>A (p.S1254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081746G>A" "" "likely benign" "" "0000317672" "0" "50" "16" "2131788" "2131788" "subst" "0.000163084" "01943" "TSC2_001137" "g.2131788G>A" "" "" "" "TSC2(NM_000548.3):c.3803G>A (p.R1268H), TSC2(NM_000548.5):c.3803G>A (p.R1268H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081787G>A" "" "VUS" "" "0000317673" "0" "90" "16" "2131800" "2131800" "subst" "0" "01943" "TSC2_002376" "g.2131800G>C" "" "" "" "TSC2(NM_000548.3):c.3814+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081799G>C" "" "pathogenic" "" "0000317674" "0" "10" "16" "2132493" "2132493" "subst" "2.8578E-5" "01943" "TSC2_002377" "g.2132493G>A" "" "" "" "TSC2(NM_000548.3):c.3871G>A (p.V1291I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2082492G>A" "" "benign" "" "0000317675" "0" "10" "16" "2132520" "2132521" "del" "0" "01943" "TSC2_000954" "g.2132520_2132521del" "" "" "" "TSC2(NM_000548.3):c.3883+15_3883+16delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2082519_2082520del" "" "benign" "" "0000317676" "0" "10" "16" "2132513" "2132513" "subst" "0.00289752" "01943" "TSC2_000539" "g.2132513C>G" "" "" "" "TSC2(NM_000548.3):c.3883+8C>G, TSC2(NM_000548.5):c.3883+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2082512C>G" "" "benign" "" "0000317678" "0" "10" "16" "2133679" "2133679" "subst" "0.00052936" "01943" "TSC2_000541" "g.2133679C>G" "" "" "" "TSC2(NM_000548.3):c.3884-17C>G, TSC2(NM_000548.5):c.3884-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083678C>G" "" "benign" "" "0000317679" "0" "90" "16" "2133695" "2133695" "subst" "0" "01943" "TSC2_002252" "g.2133695G>C" "" "" "" "TSC2(NM_000548.3):c.3884-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083694G>C" "" "pathogenic" "" "0000317680" "0" "90" "16" "2104348" "2104348" "del" "0" "01943" "TSC2_002120" "g.2104348del" "" "" "" "TSC2(NM_000548.3):c.388delT (p.Y130Tfs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054347del" "" "pathogenic" "" "0000317681" "0" "10" "16" "2133726" "2133726" "subst" "0.0018471" "01943" "TSC2_000543" "g.2133726C>T" "" "" "" "TSC2(NM_000548.5):c.3914C>T (p.P1305L), TSC2(NM_001114382.2):c.3845C>T (p.P1282L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083725C>T" "" "benign" "" "0000317682" "0" "10" "16" "2133727" "2133727" "subst" "0.00475155" "01943" "TSC2_000091" "g.2133727G>A" "" "" "" "TSC2(NM_000548.3):c.3915G>A (p.P1305=, p.(Pro1305=)), TSC2(NM_000548.5):c.3915G>A (p.P1305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083726G>A" "" "benign" "" "0000317683" "0" "10" "16" "2133755" "2133755" "subst" "0" "01943" "TSC2_002005" "g.2133755C>G" "" "" "" "TSC2(NM_000548.3):c.3943C>G (p.P1315A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083754C>G" "" "benign" "" "0000317684" "0" "90" "16" "2104355" "2104356" "del" "0" "01943" "TSC2_002121" "g.2104355_2104356del" "" "" "" "TSC2(NM_000548.3):c.395_396delCC (p.S132*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054354_2054355del" "" "pathogenic" "" "0000317685" "0" "90" "16" "2133764" "2133773" "del" "0" "01943" "TSC2_002250" "g.2133764_2133773del" "" "" "" "TSC2(NM_000548.3):c.3952_3961delGAGGACGTTG (p.E1318Rfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083763_2083772del" "" "pathogenic" "" "0000317686" "0" "10" "16" "2104355" "2104355" "subst" "0" "01943" "TSC2_001086" "g.2104355C>G" "" "" "" "TSC2(NM_000548.3):c.395C>G (p.S132C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054354C>G" "" "benign" "" "0000317687" "0" "10" "16" "2133780" "2133780" "subst" "5.39486E-5" "01943" "TSC2_002378" "g.2133780C>T" "" "" "" "TSC2(NM_000548.3):c.3968C>T (p.A1323V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083779C>T" "" "benign" "" "0000317688" "0" "30" "16" "2133781" "2133781" "subst" "4.9776E-5" "01943" "TSC2_003623" "g.2133781G>A" "" "" "" "TSC2(NM_000548.3):c.3969G>A (p.A1323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083780G>A" "" "likely benign" "" "0000317689" "0" "10" "16" "2133798" "2133798" "subst" "0.00532816" "01943" "TSC2_000092" "g.2133798G>A" "" "" "" "TSC2(NM_000548.3):c.3986G>A (p.R1329H, p.(Arg1329His)), TSC2(NM_000548.5):c.3986G>A (p.R1329H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083797G>A" "" "benign" "" "0000317690" "0" "30" "16" "2133802" "2133802" "subst" "2.49321E-5" "01943" "TSC2_003986" "g.2133802G>A" "" "" "" "TSC2(NM_001114382.2):c.3921G>A (p.T1307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083801G>A" "" "likely benign" "" "0000317691" "0" "90" "16" "2133811" "2133811" "del" "0" "01943" "TSC2_002251" "g.2133811del" "" "" "" "TSC2(NM_000548.3):c.3999delC (p.Y1333*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083810del" "" "pathogenic" "" "0000317692" "0" "90" "16" "2133818" "2133818" "subst" "0" "01943" "TSC2_002547" "g.2133818G>A" "" "" "" "TSC2(NM_000548.3):c.4005+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083817G>A" "" "pathogenic" "" "0000317693" "0" "30" "16" "2134210" "2134210" "subst" "1.17596E-5" "01943" "TSC2_003585" "g.2134210T>G" "" "" "" "TSC2(NM_000548.3):c.4006-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084209T>G" "" "likely benign" "" "0000317694" "0" "10" "16" "2134199" "2134200" "del" "0.000108111" "01943" "TSC2_002380" "g.2134199_2134200del" "" "" "" "TSC2(NM_000548.3):c.4006-30_4006-29delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084198_2084199del" "" "benign" "" "0000317695" "0" "30" "16" "2134221" "2134221" "subst" "0.00247118" "01943" "TSC2_000917" "g.2134221C>T" "" "" "" "TSC2(NM_000548.3):c.4006-8C>T, TSC2(NM_000548.5):c.4006-8C>T, TSC2(NM_001114382.2):c.3937-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084220C>T" "" "likely benign" "" "0000317696" "0" "90" "16" "2134247" "2134247" "subst" "0" "01943" "TSC2_002255" "g.2134247C>T" "" "" "" "TSC2(NM_000548.3):c.4024C>T (p.Q1342*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084246C>T" "" "pathogenic" "" "0000317697" "0" "90" "16" "2134253" "2134253" "subst" "0" "01943" "TSC2_002256" "g.2134253G>T" "" "" "" "TSC2(NM_000548.3):c.4030G>T (p.E1344*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084252G>T" "" "pathogenic" "" "0000317698" "0" "90" "16" "2134284" "2134284" "del" "0" "01943" "TSC2_002257" "g.2134284del" "" "" "" "TSC2(NM_000548.3):c.4061delG (p.G1354Afs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084283del" "" "pathogenic" "" "0000317699" "0" "90" "16" "2134301" "2134301" "subst" "0" "01943" "TSC2_002258" "g.2134301G>T" "" "" "" "TSC2(NM_000548.3):c.4078G>T (p.E1360*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084300G>T" "" "pathogenic" "" "0000317700" "0" "10" "16" "2134308" "2134308" "subst" "0" "01943" "TSC2_002381" "g.2134308T>A" "" "" "" "TSC2(NM_000548.3):c.4085T>A (p.V1362D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084307T>A" "" "benign" "" "0000317702" "0" "30" "16" "2134318" "2134318" "subst" "0.000286655" "01943" "TSC2_002260" "g.2134318G>A" "" "" "" "TSC2(NM_000548.3):c.4095G>A (p.S1365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084317G>A" "" "likely benign" "" "0000317703" "0" "90" "16" "2134322" "2134323" "del" "0" "01943" "TSC2_003624" "g.2134322_2134323del" "" "" "" "TSC2(NM_000548.3):c.4099_4100delGG (p.G1367Wfs*46)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084321_2084322del" "" "pathogenic" "" "0000317704" "0" "90" "16" "2134346" "2134347" "del" "0" "01943" "TSC2_001002" "g.2134346_2134347del" "" "" "" "TSC2(NM_000548.3):c.4123_4124delTC (p.S1375Lfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084345_2084346del" "" "pathogenic" "" "0000317705" "0" "90" "16" "2134352" "2134352" "subst" "0" "01943" "TSC2_000559" "g.2134352C>T" "" "" "" "TSC2(NM_000548.3):c.4129C>T (p.Q1377*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084351C>T" "" "pathogenic" "" "0000317706" "0" "30" "16" "2134359" "2134359" "subst" "2.45278E-5" "01943" "TSC2_002068" "g.2134359C>T" "" "" "" "TSC2(NM_000548.3):c.4136C>T (p.S1379L), TSC2(NM_000548.5):c.4136C>T (p.(Ser1379Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084358C>T" "" "likely benign" "" "0000317707" "0" "50" "16" "2134363" "2134363" "subst" "0" "01943" "TSC2_004006" "g.2134363G>T" "" "" "" "TSC2(NM_000548.3):c.4140G>T (p.Q1380H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084362G>T" "" "VUS" "" "0000317708" "0" "90" "16" "2134391" "2134391" "subst" "0" "01943" "TSC2_002261" "g.2134391G>T" "" "" "" "TSC2(NM_000548.3):c.4168G>T (p.E1390*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084390G>T" "" "pathogenic" "" "0000317709" "0" "90" "16" "2134403" "2134404" "del" "0" "01943" "TSC2_000565" "g.2134403_2134404del" "" "" "" "TSC2(NM_000548.3):c.4180_4181delCT (p.L1394Afs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084402_2084403del" "" "pathogenic" "" "0000317710" "0" "90" "16" "2134406" "2134406" "subst" "0" "01943" "TSC2_002882" "g.2134406C>T" "" "" "" "TSC2(NM_000548.3):c.4183C>T (p.Q1395*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084405C>T" "" "pathogenic" "" "0000317711" "0" "10" "16" "2134418" "2134418" "subst" "0.000328838" "01943" "TSC2_000566" "g.2134418G>A" "" "" "" "TSC2(NM_000548.3):c.4195G>A (p.G1399R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084417G>A" "" "benign" "" "0000317712" "0" "90" "16" "2134430" "2134430" "dup" "0" "01943" "TSC2_002263" "g.2134430dup" "" "" "" "TSC2(NM_000548.3):c.4207dupG (p.D1403Gfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084429dup" "" "pathogenic" "" "0000317713" "0" "10" "16" "2134438" "2134438" "subst" "0.00890403" "01943" "TSC2_000946" "g.2134438C>T" "" "" "" "TSC2(NM_000548.3):c.4215C>T (p.A1405=, p.(Ala1405=)), TSC2(NM_000548.5):c.4215C>T (p.A1405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084437C>T" "" "benign" "" "0000317714" "0" "90" "16" "2134472" "2134472" "del" "0" "01943" "TSC2_000859" "g.2134472del" "" "" "" "TSC2(NM_000548.3):c.4249delC (p.R1417Gfs*59)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084471del" "" "pathogenic" "" "0000317715" "0" "90" "16" "2134478" "2134478" "subst" "0" "01943" "TSC2_000073" "g.2134478C>T" "" "" "" "TSC2(NM_000548.3):c.4255C>T (p.Q1419*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084477C>T" "" "pathogenic" "" "0000317716" "0" "90" "16" "2134478" "2134478" "del" "0" "01943" "TSC2_000561" "g.2134478del" "" "" "" "TSC2(NM_000548.3):c.4255delC (p.Q1419Sfs*57)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084477del" "" "pathogenic" "" "0000317717" "0" "90" "16" "2134481" "2134484" "del" "0" "01943" "TSC2_000320" "g.2134481_2134484del" "" "" "" "TSC2(NM_000548.3):c.4258_4261delTCAG (p.S1420Gfs*55)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084480_2084483del" "" "pathogenic" "" "0000317718" "0" "90" "16" "2134482" "2134482" "subst" "0" "01943" "TSC2_003625" "g.2134482C>A" "" "" "" "TSC2(NM_000548.3):c.4259C>A (p.S1420*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084481C>A" "" "pathogenic" "" "0000317719" "0" "90" "16" "2134483" "2134484" "del" "0" "01943" "TSC2_002264" "g.2134483_2134484del" "" "" "" "TSC2(NM_000548.3):c.4260_4261delAG (p.G1421Dfs*102)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084482_2084483del" "" "pathogenic" "" "0000317720" "0" "90" "16" "2134489" "2134495" "del" "0" "01943" "TSC2_002265" "g.2134489_2134495del" "" "" "" "TSC2(NM_000548.3):c.4266_4272delCCTGGAC (p.L1423Gfs*51)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084488_2084494del" "" "pathogenic" "" "0000317721" "0" "10" "16" "2134492" "2134492" "subst" "0.00269103" "01943" "TSC2_000570" "g.2134492G>A" "" "" "" "TSC2(NM_000548.3):c.4269G>A (p.L1423=, p.(Leu1423=)), TSC2(NM_000548.5):c.4269G>A (p.L1423=), TSC2(NM_001370404.1):c.4137G>A (p.L1379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084491G>A" "" "benign" "" "0000317722" "0" "30" "16" "2134495" "2134495" "subst" "0.000110922" "01943" "TSC2_002884" "g.2134495C>T" "" "" "" "TSC2(NM_001114382.2):c.4203C>T (p.D1401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084494C>T" "" "likely benign" "" "0000317723" "0" "10" "16" "2134508" "2134508" "subst" "0.00277811" "01943" "TSC2_000572" "g.2134508G>T" "" "" "" "TSC2(NM_000548.3):c.4285G>T (p.A1429S), TSC2(NM_000548.5):c.4285G>T (p.A1429S, p.(Ala1429Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084507G>T" "" "benign" "" "0000317724" "0" "90" "16" "2134513" "2134513" "subst" "0" "01943" "TSC2_000574" "g.2134513G>A" "" "" "" "TSC2(NM_000548.3):c.4290G>A (p.W1430*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084512G>A" "" "pathogenic" "" "0000317725" "0" "30" "16" "2134521" "2134521" "subst" "1.70245E-5" "01943" "TSC2_002006" "g.2134521C>T" "" "" "" "TSC2(NM_000548.3):c.4298C>T (p.S1433L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084520C>T" "" "likely benign" "" "0000317726" "0" "30" "16" "2134522" "2134522" "subst" "5.94955E-5" "01943" "TSC2_003206" "g.2134522G>A" "" "" "" "TSC2(NM_000548.3):c.4299G>A (p.S1433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084521G>A" "" "likely benign" "" "0000317727" "0" "10" "16" "2104389" "2104389" "subst" "0" "01943" "TSC2_001089" "g.2104389C>G" "" "" "" "TSC2(NM_000548.3):c.429C>G (p.F143L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054388C>G" "" "benign" "" "0000317728" "0" "90" "16" "2134532" "2134535" "del" "0" "01943" "TSC2_000575" "g.2134532_2134535del" "" "" "" "TSC2(NM_000548.3):c.4309_4312delAGTC (p.S1437Gfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084531_2084534del" "" "pathogenic" "" "0000317729" "0" "90" "16" "2134539" "2134539" "del" "0" "01943" "TSC2_002268" "g.2134539del" "" "" "" "TSC2(NM_000548.3):c.4316delG (p.G1439Afs*37)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084538del" "" "pathogenic" "" "0000317730" "0" "10" "16" "2134539" "2134539" "subst" "0.00111788" "01943" "TSC2_002007" "g.2134539G>A" "" "" "" "TSC2(NM_000548.3):c.4316G>A (p.G1439D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084538G>A" "" "benign" "" "0000317731" "0" "90" "16" "2134547" "2134547" "del" "0" "01943" "TSC2_002269" "g.2134547del" "" "" "" "TSC2(NM_000548.3):c.4324delG (p.E1442Rfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084546del" "" "pathogenic" "" "0000317732" "0" "90" "16" "2104395" "2104396" "delins" "0" "01943" "TSC2_003595" "g.2104395_2104396delinsT" "" "" "" "TSC2(NM_000548.3):c.435_436delCCinsT (p.L146Sfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054394_2054395delinsT" "" "pathogenic" "" "0000317733" "0" "90" "16" "2134574" "2134574" "del" "0" "01943" "TSC2_002270" "g.2134574del" "" "" "" "TSC2(NM_000548.3):c.4351delC (p.R1451Afs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084573del" "" "pathogenic" "" "0000317734" "0" "90" "16" "2134574" "2134574" "dup" "0" "01943" "TSC2_001172" "g.2134574dup" "" "" "" "TSC2(NM_000548.3):c.4351dupC (p.R1451Pfs*73)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084573dup" "" "pathogenic" "" "0000317736" "0" "90" "16" "2134598" "2134598" "subst" "0" "01943" "TSC2_000221" "g.2134598C>T" "" "" "" "TSC2(NM_000548.3):c.4375C>T (p.R1459*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084597C>T" "" "pathogenic" "" "0000317737" "0" "90" "16" "2134598" "2134598" "del" "0" "01943" "TSC2_002271" "g.2134598del" "" "" "" "TSC2(NM_000548.3):c.4375delC (p.R1459Efs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084597del" "" "pathogenic" "" "0000317738" "0" "90" "16" "2134606" "2134606" "subst" "0" "01943" "TSC2_002383" "g.2134606C>G" "" "" "" "TSC2(NM_000548.3):c.4383C>G (p.Y1461*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084605C>G" "" "pathogenic" "" "0000317740" "0" "10" "16" "2134637" "2134637" "subst" "3.40515E-5" "01943" "TSC2_004039" "g.2134637G>A" "" "" "" "TSC2(NM_000548.3):c.4414G>A (p.G1472S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084636G>A" "" "benign" "" "0000317741" "0" "90" "16" "2134641" "2134641" "dup" "0" "01943" "TSC2_002889" "g.2134641dup" "" "" "" "TSC2(NM_000548.3):c.4418dupA (p.R1474Efs*50)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084640dup" "" "pathogenic" "" "0000317742" "0" "90" "16" "2134645" "2134646" "del" "0" "01943" "TSC2_000582" "g.2134645_2134646del" "" "" "" "TSC2(NM_000548.3):c.4422_4423delAG (p.R1474Sfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084644_2084645del" "" "pathogenic" "" "0000317743" "0" "90" "16" "2134696" "2134696" "dup" "0" "01943" "TSC2_002274" "g.2134696dup" "" "" "" "TSC2(NM_000548.3):c.4473dupA (p.V1492Sfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084695dup" "" "pathogenic" "" "0000317744" "0" "90" "16" "2134712" "2134712" "subst" "0" "01943" "TSC2_002025" "g.2134712C>T" "" "" "" "TSC2(NM_000548.3):c.4489C>T (p.P1497S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084711C>T" "" "pathogenic" "" "0000317745" "0" "50" "16" "2134713" "2134713" "subst" "0" "01943" "TSC2_000224" "g.2134713C>G" "" "" "" "TSC2(NM_000548.3):c.4490C>G (p.P1497R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084712C>G" "" "VUS" "" "0000317746" "0" "90" "16" "2134717" "2134717" "del" "0" "01943" "TSC2_002275" "g.2134717del" "" "" "" "TSC2(NM_000548.3):c.4493+1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084716del" "" "pathogenic" "" "0000317747" "0" "90" "16" "2134716" "2134716" "subst" "0" "01943" "TSC2_000225" "g.2134716G>A" "" "" "" "TSC2(NM_000548.3):c.4493G>A (p.S1498N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084715G>A" "" "pathogenic" "" "0000317748" "0" "50" "16" "2134716" "2134716" "subst" "0" "01943" "TSC2_002325" "g.2134716G>C" "" "" "" "TSC2(NM_000548.3):c.4493G>C (p.S1498T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084715G>C" "" "VUS" "" "0000317749" "0" "30" "16" "2134940" "2134940" "dup" "0" "01943" "TSC2_004050" "g.2134940dup" "" "" "" "TSC2(NM_000548.3):c.4494-12dupC, TSC2(NM_000548.5):c.4494-12dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084939dup" "" "likely benign" "" "0000317750" "0" "90" "16" "2134951" "2134951" "subst" "0" "01943" "TSC2_001109" "g.2134951G>C" "" "" "" "TSC2(NM_000548.3):c.4494-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084950G>C" "" "pathogenic" "" "0000317751" "0" "90" "16" "2134949" "2134950" "del" "0" "01943" "TSC2_002277" "g.2134949_2134950del" "" "" "" "TSC2(NM_000548.3):c.4494-3_4494-2delCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084948_2084949del" "" "pathogenic" "" "0000317752" "0" "90" "16" "2134954" "2134954" "dup" "0" "01943" "TSC2_002387" "g.2134954dup" "" "" "" "TSC2(NM_000548.3):c.4496dupT (p.V1500Rfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084953dup" "" "pathogenic" "" "0000317753" "0" "90" "16" "2134965" "2134965" "subst" "0" "01943" "TSC2_000279" "g.2134965C>T" "" "" "" "TSC2(NM_000548.3):c.4507C>T (p.Q1503*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084964C>T" "" "pathogenic" "" "0000317754" "0" "90" "16" "2134973" "2134973" "subst" "0" "01943" "TSC2_001994" "g.2134973C>G" "" "" "" "TSC2(NM_000548.3):c.4515C>G (p.Y1505*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084972C>G" "" "pathogenic" "" "0000317755" "0" "10" "16" "2134985" "2134987" "del" "0" "01943" "TSC2_000017" "g.2134985_2134987del" "" "" "" "TSC2(NM_000548.3):c.4527_4529del (p.(Phe1510del)), TSC2(NM_000548.3):c.4527_4529delCTT (p.F1510del), TSC2(NM_000548.5):c.4527_4529delCTT (p.F1510d...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084984_2084986del" "" "benign" "" "0000317756" "0" "30" "16" "2134994" "2134994" "subst" "0.00313367" "01943" "TSC2_000018" "g.2134994C>T" "" "" "" "TSC2(NM_000548.3):c.4536C>T (p.D1512=, p.(Asp1512=)), TSC2(NM_000548.5):c.4536C>T (p.D1512=), TSC2(NM_001114382.2):c.4467C>T (p.D1489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084993C>T" "" "likely benign" "" "0000317757" "0" "90" "16" "2134995" "2134995" "subst" "0" "01943" "TSC2_003626" "g.2134995G>T" "" "" "" "TSC2(NM_000548.3):c.4537G>T (p.E1513*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084994G>T" "" "pathogenic" "" "0000317758" "0" "90" "16" "2135002" "2135005" "del" "0" "01943" "TSC2_000590" "g.2135002_2135005del" "" "" "" "TSC2(NM_000548.3):c.4544_4547delACAA (p.N1515Sfs*60)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085001_2085004del" "" "pathogenic" "" "0000317759" "0" "10" "16" "2135071" "2135071" "subst" "0.00224715" "01943" "TSC2_002278" "g.2135071C>T" "" "" "" "TSC2(NM_000548.3):c.4569+44C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085070C>T" "" "benign" "" "0000317760" "0" "10" "16" "2135073" "2135073" "subst" "0.0103297" "01943" "TSC2_000923" "g.2135073C>T" "" "" "" "TSC2(NM_000548.3):c.4569+46C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085072C>T" "" "benign" "" "0000317761" "0" "10" "16" "2135074" "2135074" "subst" "0.00457483" "01943" "TSC2_000924" "g.2135074G>A" "" "" "" "TSC2(NM_000548.3):c.4569+47G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085073G>A" "" "benign" "" "0000317762" "0" "10" "16" "2135107" "2135107" "subst" "0" "01943" "TSC2_002279" "g.2135107G>A" "" "" "" "TSC2(NM_000548.3):c.4569+80G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085106G>A" "" "benign" "" "0000317763" "0" "90" "16" "2135234" "2135234" "subst" "0" "01943" "TSC2_000694" "g.2135234C>T" "" "" "" "TSC2(NM_000548.3):c.4573C>T (p.Q1525*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085233C>T" "" "pathogenic" "" "0000317764" "0" "50" "16" "2135251" "2135251" "subst" "8.1477E-6" "01943" "TSC2_003627" "g.2135251G>A" "" "" "" "TSC2(NM_000548.3):c.4590G>A (p.S1530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085250G>A" "" "VUS" "" "0000317765" "0" "30" "16" "2135260" "2135260" "subst" "2.03654E-5" "01943" "TSC2_004069" "g.2135260C>T" "" "" "" "TSC2(NM_000548.3):c.4599C>T (p.L1533=), TSC2(NM_000548.5):c.4599C>T (p.L1533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085259C>T" "" "likely benign" "" "0000317766" "0" "90" "16" "2135262" "2135262" "subst" "0" "01943" "TSC2_001084" "g.2135262T>A" "" "" "" "TSC2(NM_000548.3):c.4601T>A (p.L1534H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085261T>A" "" "pathogenic" "" "0000317767" "0" "10" "16" "2135266" "2135266" "subst" "0" "01943" "TSC2_000922" "g.2135266C>T" "" "" "" "TSC2(NM_000548.3):c.4605C>T (p.D1535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085265C>T" "" "benign" "" "0000317768" "0" "90" "16" "2135267" "2135267" "subst" "0" "01943" "TSC2_000333" "g.2135267C>T" "" "" "" "TSC2(NM_000548.3):c.4606C>T (p.Q1536*), TSC2(NM_000548.5):c.4606C>T (p.Q1536*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085266C>T" "" "pathogenic" "" "0000317769" "0" "90" "16" "2135281" "2135281" "subst" "0" "01943" "TSC2_000596" "g.2135281C>G" "" "" "" "TSC2(NM_000548.3):c.4620C>G (p.Y1540*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085280C>G" "" "pathogenic" "" "0000317770" "0" "30" "16" "2135281" "2135281" "subst" "5.29488E-5" "01943" "TSC2_003643" "g.2135281C>T" "" "" "" "TSC2(NM_000548.3):c.4620C>T (p.Y1540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085280C>T" "" "likely benign" "" "0000317771" "0" "90" "16" "2135282" "2135282" "del" "0" "01943" "TSC2_002280" "g.2135282del" "" "" "" "TSC2(NM_000548.3):c.4621delG (p.D1541Tfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085281del" "" "pathogenic" "" "0000317772" "0" "10" "16" "2135299" "2135299" "subst" "0.000822945" "01943" "TSC2_000958" "g.2135299C>T" "" "" "" "TSC2(NM_000548.3):c.4638C>T (p.A1546=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085298C>T" "" "benign" "" "0000317773" "0" "90" "16" "2135301" "2135301" "subst" "0" "01943" "TSC2_002281" "g.2135301T>G" "" "" "" "TSC2(NM_000548.3):c.4640T>G (p.V1547G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085300T>G" "" "pathogenic" "" "0000317774" "0" "90" "16" "2135304" "2135304" "subst" "0" "01943" "TSC2_001249" "g.2135304T>C" "" "" "" "TSC2(NM_000548.3):c.4643T>C (p.L1548P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085303T>C" "" "pathogenic" "" "0000317775" "0" "90" "16" "2135308" "2135308" "subst" "0" "01943" "TSC2_002282" "g.2135308T>A" "" "" "" "TSC2(NM_000548.3):c.4647T>A (p.Y1549*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085307T>A" "" "pathogenic" "" "0000317776" "0" "90" "16" "2135315" "2135315" "subst" "0" "01943" "TSC2_002283" "g.2135315G>T" "" "" "" "TSC2(NM_000548.3):c.4654G>T (p.E1552*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085314G>T" "" "pathogenic" "" "0000317777" "0" "90" "16" "2135316" "2135318" "del" "0" "01943" "TSC2_000280" "g.2135316_2135318del" "" "" "" "TSC2(NM_000548.3):c.4655_4657delAAG (p.E1552del), TSC2(NM_001114382.2):c.4586_4588delAAG (p.E1529del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085315_2085317del" "" "pathogenic" "" "0000317778" "0" "30" "16" "2104425" "2104425" "subst" "5.27893E-5" "01943" "TSC2_002122" "g.2104425C>T" "" "" "" "TSC2(NM_000548.3):c.465C>T (p.Y155=), TSC2(NM_000548.5):c.465C>T (p.Y155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054424C>T" "" "likely benign" "" "0000317779" "0" "30" "16" "2135334" "2135334" "subst" "4.0819E-5" "01943" "TSC2_002562" "g.2135334G>A" "" "" "" "TSC2(NM_000548.3):c.4662+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085333G>A" "" "likely benign" "" "0000317780" "0" "10" "16" "2135341" "2135341" "subst" "0.000130828" "01943" "TSC2_000023" "g.2135341G>A" "" "" "" "TSC2(NM_000548.3):c.4662+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085340G>A" "" "benign" "" "0000317781" "0" "50" "16" "2135323" "2135323" "subst" "0" "01943" "TSC2_002071" "g.2135323G>C" "" "" "" "TSC2(NM_000548.3):c.4662G>C (p.Q1554H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085322G>C" "" "VUS" "" "0000317782" "0" "10" "16" "2136180" "2136180" "subst" "2.04641E-5" "01943" "TSC2_002284" "g.2136180C>T" "" "" "" "TSC2(NM_000548.3):c.4663-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086179C>T" "" "benign" "" "0000317784" "0" "30" "16" "2136202" "2136202" "subst" "5.71158E-5" "01943" "TSC2_004088" "g.2136202C>T" "" "" "" "TSC2(NM_000548.3):c.4671C>T (p.S1557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086201C>T" "" "likely benign" "" "0000317785" "0" "90" "16" "2136203" "2136203" "subst" "0" "01943" "TSC2_000334" "g.2136203G>A" "" "" "" "TSC2(NM_000548.3):c.4672G>A (p.E1558K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086202G>A" "" "pathogenic" "" "0000317786" "0" "50" "16" "2136231" "2136231" "subst" "0" "01943" "TSC2_000606" "g.2136231G>A" "" "" "" "TSC2(NM_000548.3):c.4700G>A (p.G1567D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086230G>A" "" "VUS" "" "0000317787" "0" "90" "16" "2136231" "2136231" "subst" "0" "01943" "TSC2_002009" "g.2136231G>T" "" "" "" "TSC2(NM_000548.3):c.4700G>T (p.G1567V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086230G>T" "" "pathogenic" "" "0000317788" "0" "90" "16" "2136238" "2136238" "subst" "0" "01943" "TSC2_002391" "g.2136238C>G" "" "" "" "TSC2(NM_000548.3):c.4707C>G (p.Y1569*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086237C>G" "" "pathogenic" "" "0000317789" "0" "90" "16" "2136240" "2136240" "subst" "0" "01943" "TSC2_002287" "g.2136240G>C" "" "" "" "TSC2(NM_000548.3):c.4709G>C (p.R1570T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086239G>C" "" "pathogenic" "" "0000317790" "0" "90" "16" "2136264" "2136264" "subst" "0" "01943" "TSC2_000865" "g.2136264T>C" "" "" "" "TSC2(NM_000548.3):c.4733T>C (p.L1578P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086263T>C" "" "pathogenic" "" "0000317791" "0" "90" "16" "2136267" "2136267" "subst" "0" "01943" "TSC2_002289" "g.2136267G>T" "" "" "" "TSC2(NM_000548.3):c.4736G>T (p.G1579V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086266G>T" "" "pathogenic" "" "0000317793" "0" "90" "16" "2104438" "2104438" "subst" "0" "01943" "TSC2_000154" "g.2104438C>G" "" "" "" "TSC2(NM_000548.3):c.478C>G (p.L160V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054437C>G" "" "pathogenic" "" "0000317794" "0" "30" "16" "2136340" "2136340" "subst" "0.000106199" "01943" "TSC2_003224" "g.2136340C>T" "" "" "" "TSC2(NM_000548.3):c.4809C>T (p.D1603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086339C>T" "" "likely benign" "" "0000317795" "0" "10" "16" "2104462" "2104462" "subst" "4.06263E-6" "01943" "TSC2_002331" "g.2104462G>C" "" "" "" "TSC2(NM_000548.3):c.481+21G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054461G>C" "" "benign" "" "0000317796" "0" "90" "16" "2104446" "2104446" "subst" "0" "01943" "TSC2_001146" "g.2104446G>A" "" "" "" "TSC2(NM_000548.3):c.481+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054445G>A" "" "pathogenic" "" "0000317797" "0" "90" "16" "2104446" "2104446" "subst" "0" "01943" "TSC2_000966" "g.2104446G>T" "" "" "" "TSC2(NM_000548.3):c.481+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054445G>T" "" "pathogenic" "" "0000317798" "0" "10" "16" "2136343" "2136343" "subst" "1.63465E-5" "01943" "TSC2_002392" "g.2136343C>A" "" "" "" "TSC2(NM_000548.3):c.4812C>A (p.G1604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086342C>A" "" "benign" "" "0000317799" "0" "90" "16" "2105402" "2105402" "subst" "0" "01943" "TSC2_000968" "g.2105402G>C" "" "" "" "TSC2(NM_000548.3):c.482-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055401G>C" "" "pathogenic" "" "0000317800" "0" "10" "16" "2105400" "2105400" "subst" "0.0871488" "01943" "TSC2_000156" "g.2105400C>T" "" "" "" "TSC2(NM_000548.3):c.482-3C>T, TSC2(NM_000548.5):c.482-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055399C>T" "" "benign" "" "0000317801" "0" "90" "16" "2136354" "2136356" "del" "0" "01943" "TSC2_000612" "g.2136354_2136356del" "" "" "" "TSC2(NM_000548.3):c.4823_4825delACT (p.Y1608del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086353_2086355del" "" "pathogenic" "" "0000317802" "0" "90" "16" "2136361" "2136361" "subst" "0" "01943" "TSC2_000615" "g.2136361G>A" "" "" "" "TSC2(NM_000548.3):c.4830G>A (p.W1610*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086360G>A" "" "pathogenic" "" "0000317803" "0" "90" "16" "2136373" "2136375" "del" "0" "01943" "TSC2_000118" "g.2136373_2136375del" "" "" "" "TSC2(NM_000548.3):c.4842_4844delCAT (p.I1614del), TSC2(NM_001114382.3):c.4773_4775delCAT (p.I1591del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086372_2086374del" "" "pathogenic" "" "0000317804" "0" "90" "16" "2136377" "2136377" "subst" "0" "01943" "TSC2_000788" "g.2136377C>T" "" "" "" "TSC2(NM_000548.3):c.4846C>T (p.Q1616*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086376C>T" "" "pathogenic" "" "0000317805" "0" "90" "16" "2136382" "2136382" "subst" "0" "01943" "TSC2_002291" "g.2136382T>A" "" "" "" "TSC2(NM_000548.3):c.4849+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086381T>A" "" "pathogenic" "" "0000317806" "0" "10" "16" "2136428" "2136428" "subst" "5.40371E-5" "01943" "TSC2_002393" "g.2136428C>T" "" "" "" "TSC2(NM_000548.3):c.4849+48C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086427C>T" "" "benign" "" "0000317807" "0" "10" "16" "2136456" "2136456" "subst" "0" "01943" "TSC2_002292" "g.2136456G>A" "" "" "" "TSC2(NM_000548.3):c.4849+76G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086455G>A" "" "benign" "" "0000317808" "0" "10" "16" "2136719" "2136719" "subst" "1.23109E-5" "01943" "TSC2_002394" "g.2136719C>G" "" "" "" "TSC2(NM_000548.3):c.4850-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086718C>G" "" "benign" "" "0000317809" "0" "30" "16" "2136710" "2136710" "subst" "4.12327E-6" "01943" "TSC2_002294" "g.2136710C>T" "" "" "" "TSC2(NM_000548.3):c.4850-23C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086709C>T" "" "likely benign" "" "0000317810" "0" "90" "16" "2136730" "2136730" "subst" "0" "01943" "TSC2_002296" "g.2136730C>G" "" "" "" "TSC2(NM_000548.3):c.4850-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086729C>G" "" "pathogenic" "" "0000317811" "0" "90" "16" "2136738" "2136740" "del" "0" "01943" "TSC2_002297" "g.2136738_2136740del" "" "" "" "TSC2(NM_000548.3):c.4855_4857delTTC (p.F1619del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086737_2086739del" "" "pathogenic" "" "0000317812" "0" "90" "16" "2136739" "2136739" "subst" "0" "01943" "TSC2_000870" "g.2136739T>C" "" "" "" "TSC2(NM_000548.3):c.4856T>C (p.F1619S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086738T>C" "" "pathogenic" "" "0000317813" "0" "90" "16" "2136741" "2136741" "subst" "0" "01943" "TSC2_000285" "g.2136741C>T" "" "" "" "TSC2(NM_000548.3):c.4858C>T (p.H1620Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086740C>T" "" "pathogenic" "" "0000317814" "0" "90" "16" "2136751" "2136751" "subst" "0" "01943" "TSC2_001241" "g.2136751C>T" "" "" "" "TSC2(NM_000548.3):c.4868C>T (p.T1623I), TSC2(NM_000548.5):c.4868C>T (p.T1623I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086750C>T" "" "pathogenic" "" "0000317815" "0" "90" "16" "2136753" "2136754" "del" "0" "01943" "TSC2_000286" "g.2136753_2136754del" "" "" "" "TSC2(NM_000548.3):c.4870_4871delCT (p.L1624Dfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086752_2086753del" "" "pathogenic" "" "0000317816" "0" "90" "16" "2136761" "2136764" "del" "0" "01943" "TSC2_000871" "g.2136761_2136764del" "" "" "" "TSC2(NM_000548.3):c.4878_4881delCACC (p.T1627Rfs*44)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086760_2086763del" "" "pathogenic" "" "0000317817" "0" "90" "16" "2105409" "2105410" "del" "0" "01943" "TSC2_000099" "g.2105409_2105410del" "" "" "" "TSC2(NM_000548.3):c.488_489delTT (p.F163Cfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055408_2055409del" "" "pathogenic" "" "0000317818" "0" "90" "16" "2136788" "2136788" "subst" "0" "01943" "TSC2_002299" "g.2136788C>A" "" "" "" "TSC2(NM_000548.3):c.4905C>A (p.C1635*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086787C>A" "" "pathogenic" "" "0000317819" "0" "90" "16" "2136793" "2136802" "del" "0" "01943" "TSC2_002300" "g.2136793_2136802del" "" "" "" "TSC2(NM_000548.3):c.4910_4919delAGAAGCGCCA (p.K1637Tfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086792_2086801del" "" "pathogenic" "" "0000317820" "0" "90" "16" "2136795" "2136797" "del" "0" "01943" "TSC2_000872" "g.2136795_2136797del" "" "" "" "TSC2(NM_000548.3):c.4912_4914delAAG (p.K1638del), TSC2(NM_000548.5):c.4912_4914del (p.(Lys1638del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086794_2086796del" "" "pathogenic" "" "0000317821" "0" "90" "16" "2136796" "2136796" "dup" "0" "01943" "TSC2_002301" "g.2136796dup" "" "" "" "TSC2(NM_000548.3):c.4913dupA (p.R1639Afs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086795dup" "" "pathogenic" "" "0000317822" "0" "90" "16" "2136817" "2136818" "del" "0" "01943" "TSC2_000068" "g.2136817_2136818del" "" "" "" "TSC2(NM_000548.3):c.4934_4935delTT (p.F1645Cfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086816_2086817del" "" "pathogenic" "" "0000317823" "0" "90" "16" "2136818" "2136818" "dup" "0" "01943" "TSC2_002396" "g.2136818dup" "" "" "" "TSC2(NM_000548.3):c.4935dupT (p.V1646Cfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086817dup" "" "pathogenic" "" "0000317824" "0" "90" "16" "2136820" "2136820" "subst" "0" "01943" "TSC2_002010" "g.2136820T>G" "" "" "" "TSC2(NM_000548.3):c.4937T>G (p.V1646G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086819T>G" "" "pathogenic" "" "0000317825" "0" "10" "16" "2136842" "2136842" "subst" "0.00963142" "01943" "TSC2_000031" "g.2136842C>T" "" "" "" "TSC2(NM_000548.3):c.4959C>T (p.S1653=, p.(Ser1653=)), TSC2(NM_000548.5):c.4959C>T (p.S1653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086841C>T" "" "benign" "" "0000317826" "0" "90" "16" "2105417" "2105417" "subst" "0" "01943" "TSC2_000080" "g.2105417C>T" "" "" "" "TSC2(NM_000548.3):c.496C>T (p.Q166*), TSC2(NM_000548.5):c.496C>T (p.Q166*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055416C>T" "" "pathogenic" "" "0000317828" "0" "10" "16" "2136866" "2136866" "subst" "0.00524021" "01943" "TSC2_000094" "g.2136866C>T" "" "" "" "TSC2(NM_000548.3):c.4983C>T (p.T1661=, p.(Thr1661=)), TSC2(NM_000548.5):c.4983C>T (p.T1661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086865C>T" "" "benign" "" "0000317829" "0" "30" "16" "2137853" "2137853" "subst" "1.63451E-5" "01943" "TSC2_004131" "g.2137853T>C" "" "" "" "TSC2(NM_000548.3):c.4990-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087852T>C" "" "likely benign" "" "0000317830" "0" "50" "16" "2137858" "2137858" "subst" "4.08423E-6" "01943" "TSC2_001071" "g.2137858G>A" "" "" "" "TSC2(NM_000548.3):c.4990-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087857G>A" "" "VUS" "" "0000317831" "0" "90" "16" "2137867" "2137867" "subst" "0" "01943" "TSC2_000032" "g.2137867C>T" "" "" "" "TSC2(NM_000548.3):c.4993C>T (p.Q1665*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087866C>T" "" "pathogenic" "" "0000317832" "0" "90" "16" "2137875" "2137875" "del" "0" "01943" "TSC2_003631" "g.2137875del" "" "" "" "TSC2(NM_000548.3):c.5001delC (p.F1668Lfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087874del" "" "pathogenic" "" "0000317833" "0" "50" "16" "2137878" "2137878" "subst" "0" "01943" "TSC2_002458" "g.2137878T>G" "" "" "" "TSC2(NM_000548.3):c.5004T>G (p.F1668L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087877T>G" "" "VUS" "" "0000317834" "0" "90" "16" "2137882" "2137882" "del" "0" "01943" "TSC2_003632" "g.2137882del" "" "" "" "TSC2(NM_000548.3):c.5008delC (p.H1670Tfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087881del" "" "pathogenic" "" "0000317835" "0" "10" "16" "2137891" "2137891" "subst" "0.000497204" "01943" "TSC2_000724" "g.2137891G>C" "" "" "" "TSC2(NM_000548.3):c.5017G>C (p.V1673L, p.(Val1673Leu)), TSC2(NM_000548.5):c.5017G>C (p.V1673L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087890G>C" "" "benign" "" "0000317836" "0" "50" "16" "2137891" "2137891" "subst" "0" "01943" "TSC2_002076" "g.2137891G>T" "" "" "" "TSC2(NM_000548.3):c.5017G>T (p.V1673F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087890G>T" "" "VUS" "" "0000317837" "0" "90" "16" "2137892" "2137892" "subst" "0" "01943" "TSC2_002077" "g.2137892T>A" "" "" "" "TSC2(NM_000548.3):c.5018T>A (p.V1673D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087891T>A" "" "pathogenic" "" "0000317838" "0" "50" "16" "2137897" "2137897" "subst" "0" "01943" "TSC2_003007" "g.2137897C>T" "" "" "" "TSC2(NM_000548.3):c.5023C>T (p.P1675S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087896C>T" "" "VUS" "" "0000317839" "0" "90" "16" "2137898" "2137898" "subst" "0" "01943" "TSC2_000033" "g.2137898C>T" "" "" "" "TSC2(NM_000548.3):c.5024C>T (p.P1675L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087897C>T" "" "pathogenic" "" "0000317840" "0" "90" "16" "2137899" "2137899" "del" "0" "01943" "TSC2_000143" "g.2137899del" "" "" "" "TSC2(NM_000548.3):c.5025delG (p.L1676Wfs*150)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087898del" "" "pathogenic" "" "0000317841" "0" "50" "16" "2137902" "2137902" "subst" "0.000407734" "01943" "TSC2_000631" "g.2137902G>A" "" "" "" "TSC2(NM_000548.3):c.5028G>A (p.L1676=), TSC2(NM_000548.5):c.5028G>A (p.L1676=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087901G>A" "" "VUS" "" "0000317842" "0" "90" "16" "2137908" "2137908" "subst" "0" "01943" "TSC2_000633" "g.2137908C>G" "" "" "" "TSC2(NM_000548.3):c.5034C>G (p.Y1678*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087907C>G" "" "pathogenic" "" "0000317843" "0" "10" "16" "2137969" "2138002" "del" "0" "01943" "TSC2_000144" "g.2137969_2138002del" "" "" "" "PKD1(NM_001009944.3):c.*1770_*1803del, TSC2(NM_000548.3):c.5051_5068+16del, TSC2(NM_000548.3):c.5068+27_5069-47del (p.(=)), TSC2(NM_000548.5):c.505..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087968_2088001del" "" "benign" "" "0000317844" "0" "90" "16" "2137930" "2137930" "subst" "0" "01943" "TSC2_000636" "g.2137930C>T" "" "" "" "TSC2(NM_000548.3):c.5056C>T (p.Q1686*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087929C>T" "" "pathogenic" "" "0000317845" "0" "30" "16" "2137932" "2137932" "subst" "2.03741E-5" "01943" "TSC2_003633" "g.2137932G>A" "" "" "" "TSC2(NM_000548.3):c.5058G>A (p.Q1686=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087931G>A" "" "likely benign" "" "0000317846" "0" "10" "16" "2137958" "2137958" "dup" "0" "01943" "TSC2_002302" "g.2137958dup" "" "" "" "TSC2(NM_000548.3):c.5068+16dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087957dup" "" "benign" "" "0000317847" "0" "90" "16" "2137943" "2137943" "subst" "0" "01943" "TSC2_000637" "g.2137943G>A" "" "" "" "TSC2(NM_000548.3):c.5068+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087942G>A" "" "pathogenic" "" "0000317848" "0" "10" "16" "2137982" "2137982" "subst" "0.00212587" "01943" "TSC2_002323" "g.2137982G>A" "" "" "" "TSC2(NM_000548.3):c.5068+40G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087981G>A" "" "benign" "" "0000317849" "0" "10" "16" "2137951" "2137951" "subst" "0.000138637" "01943" "TSC2_000638" "g.2137951G>A" "" "" "" "TSC2(NM_000548.3):c.5068+9G>A, TSC2(NM_000548.5):c.5068+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087950G>A" "" "benign" "" "0000317850" "0" "90" "16" "2138048" "2138048" "subst" "0" "01943" "TSC2_000639" "g.2138048G>A" "" "" "" "TSC2(NM_000548.3):c.5069-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088047G>A" "" "pathogenic" "" "0000317852" "0" "10" "16" "2138077" "2138077" "subst" "4.47675E-5" "01943" "TSC2_002400" "g.2138077G>C" "" "" "" "TSC2(NM_000548.3):c.5097G>C (p.V1699=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088076G>C" "" "benign" "" "0000317854" "0" "10" "16" "2138098" "2138098" "subst" "0" "01943" "TSC2_002401" "g.2138098C>T" "" "" "" "TSC2(NM_000548.3):c.5118C>T (p.R1706=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088097C>T" "" "benign" "" "0000317856" "0" "90" "16" "2138103" "2138103" "subst" "0" "01943" "TSC2_002305" "g.2138103T>C" "" "" "" "TSC2(NM_000548.3):c.5123T>C (p.L1708P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088102T>C" "" "pathogenic" "" "0000317857" "0" "90" "16" "2138106" "2138106" "subst" "0" "01943" "TSC2_000059" "g.2138106C>T" "" "" "" "TSC2(NM_000548.3):c.5126C>T (p.P1709L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088105C>T" "" "pathogenic" "" "0000317858" "0" "90" "16" "2138107" "2138107" "dup" "0" "01943" "TSC2_002306" "g.2138107dup" "" "" "" "TSC2(NM_000548.3):c.5127dupC (p.F1710Lfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088106dup" "" "pathogenic" "" "0000317859" "0" "90" "16" "2138120" "2138120" "subst" "0" "01943" "TSC2_000878" "g.2138120C>T" "" "" "" "TSC2(NM_000548.3):c.5140C>T (p.Q1714*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088119C>T" "" "pathogenic" "" "0000317860" "0" "90" "16" "2138130" "2138130" "subst" "0" "01943" "TSC2_000684" "g.2138130T>C" "" "" "" "TSC2(NM_000548.3):c.5150T>C (p.L1717P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088129T>C" "" "pathogenic" "" "0000317863" "0" "90" "16" "2138141" "2138141" "subst" "0" "01943" "TSC2_000648" "g.2138141G>A" "" "" "" "TSC2(NM_000548.3):c.5160+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088140G>A" "" "pathogenic" "" "0000317864" "0" "10" "16" "2138163" "2138163" "subst" "0.000142452" "01943" "TSC2_002308" "g.2138163G>A" "" "" "" "TSC2(NM_000548.3):c.5160+23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088162G>A" "" "benign" "" "0000317865" "0" "90" "16" "2138142" "2138142" "subst" "0" "01943" "TSC2_002310" "g.2138142T>C" "" "" "" "TSC2(NM_000548.3):c.5160+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088141T>C" "" "pathogenic" "" "0000317866" "0" "50" "16" "2138227" "2138227" "subst" "0" "01943" "TSC2_000657" "g.2138227G>A" "" "" "" "TSC2(NM_000548.3):c.5161-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088226G>A" "" "VUS" "" "0000317867" "0" "90" "16" "2138225" "2138226" "del" "0" "01943" "TSC2_003635" "g.2138225_2138226del" "" "" "" "TSC2(NM_000548.3):c.5161-3_5161-2delCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088224_2088225del" "" "pathogenic" "" "0000317868" "0" "10" "16" "2138219" "2138219" "subst" "0.00311057" "01943" "TSC2_000297" "g.2138219C>T" "" "" "" "PKD1(NM_001009944.3):c.*1509G>A, TSC2(NM_000548.3):c.5161-9C>T, TSC2(NM_000548.5):c.5161-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088218C>T" "" "benign" "" "0000317869" "0" "90" "16" "2138231" "2138231" "subst" "0" "01943" "TSC2_002312" "g.2138231G>C" "" "" "" "TSC2(NM_000548.3):c.5164G>C (p.A1722P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088230G>C" "" "pathogenic" "" "0000317870" "0" "90" "16" "2138237" "2138237" "subst" "0" "01943" "TSC2_000147" "g.2138237C>T" "" "" "" "TSC2(NM_000548.3):c.5170C>T (p.Q1724*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088236C>T" "" "pathogenic" "" "0000317871" "0" "10" "16" "2138251" "2138251" "subst" "0" "01943" "TSC2_002402" "g.2138251C>T" "" "" "" "TSC2(NM_000548.3):c.5184C>T (p.S1728=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088250C>T" "" "benign" "" "0000317873" "0" "10" "16" "2138269" "2138269" "subst" "0.178282" "01943" "TSC2_000001" "g.2138269T>C" "" "" "" "PKD1(NM_001009944.3):c.*1459A>G, TSC2(NM_000548.3):c.5202T>C (p.D1734=), TSC2(NM_000548.5):c.5202T>C (p.D1734=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088268T>C" "" "benign" "" "0000317875" "0" "90" "16" "2138275" "2138275" "subst" "0" "01943" "TSC2_000328" "g.2138275C>A" "" "" "" "TSC2(NM_000548.3):c.5208C>A (p.Y1736*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088274C>A" "" "pathogenic" "" "0000317876" "0" "90" "16" "2138294" "2138294" "subst" "0" "01943" "TSC2_000329" "g.2138294C>T" "" "" "" "TSC2(NM_000548.3):c.5227C>T (p.R1743W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088293C>T" "" "pathogenic" "" "0000317877" "0" "90" "16" "2138295" "2138295" "subst" "0" "01943" "TSC2_000096" "g.2138295G>A" "" "" "" "TSC2(NM_000548.3):c.5228G>A (p.R1743Q), TSC2(NM_001114382.3):c.5159G>A (p.R1720Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088294G>A" "" "pathogenic" "" "0000317878" "0" "90" "16" "2138295" "2138295" "subst" "0" "01943" "TSC2_001180" "g.2138295G>T" "" "" "" "TSC2(NM_000548.3):c.5228G>T (p.R1743L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088294G>T" "" "pathogenic" "" "0000317879" "0" "90" "16" "2138305" "2138322" "del" "0" "01943" "TSC2_000149" "g.2138305_2138322del" "" "" "" "TSC2(NM_000548.3):c.5238_5255delCATCAAGCGGCTCCGCCA (p.H1746_R1751del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088304_2088321del" "" "pathogenic" "" "0000317880" "0" "90" "16" "2138314" "2138314" "dup" "0" "01943" "TSC2_002079" "g.2138314dup" "" "" "" "TSC2(NM_000548.3):c.5247dupG (p.L1750Afs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088313dup" "" "pathogenic" "" "0000317881" "0" "90" "16" "2138316" "2138316" "subst" "0" "01943" "TSC2_002316" "g.2138316T>C" "" "" "" "TSC2(NM_000548.3):c.5249T>C (p.L1750P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088315T>C" "" "pathogenic" "" "0000317882" "0" "90" "16" "2138319" "2138345" "del" "0" "01943" "TSC2_000661" "g.2138319_2138345del" "" "" "" "TSC2(NM_000548.3):c.5252_5259+19delGCCAGCGGGTAGGGAATATGGGGCTCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088318_2088344del" "" "pathogenic" "" "0000317883" "0" "10" "16" "2138422" "2138422" "subst" "0.11417" "01943" "TSC2_000300" "g.2138422C>G" "" "" "" "TSC2(NM_000548.3):c.5260-25C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088421C>G" "" "benign" "" "0000317884" "0" "10" "16" "2138398" "2138398" "subst" "0.105846" "01943" "TSC2_000150" "g.2138398C>T" "" "" "" "TSC2(NM_000548.3):c.5260-49C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088397C>T" "" "benign" "" "0000317885" "0" "10" "16" "2138449" "2138449" "subst" "0" "01943" "TSC2_002405" "g.2138449C>T" "" "" "" "TSC2(NM_000548.3):c.5262C>T (p.I1754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088448C>T" "" "benign" "" "0000317887" "0" "10" "16" "2138508" "2138508" "subst" "0.00233816" "01943" "TSC2_000891" "g.2138508G>C" "" "" "" "TSC2(NM_000548.3):c.5321G>C (p.S1774T), TSC2(NM_000548.5):c.5321G>C (p.S1774T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088507G>C" "" "benign" "" "0000317888" "0" "30" "16" "2138518" "2138518" "subst" "8.15069E-6" "01943" "TSC2_002322" "g.2138518T>C" "" "" "" "TSC2(NM_000548.3):c.5331T>C (p.P1777=), TSC2(NM_000548.5):c.5331T>C (p.P1777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088517T>C" "" "likely benign" "" "0000317889" "0" "30" "16" "2138546" "2138546" "subst" "0.0022029" "01943" "TSC2_000301" "g.2138546G>A" "" "" "" "PKD1(NM_001009944.3):c.*1182C>T, TSC2(NM_000548.3):c.5359G>A (p.G1787S, p.(Gly1787Ser)), TSC2(NM_000548.5):c.5359G>A (p.G1787S), TSC2(NM_001114382...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088545G>A" "" "likely benign" "" "0000317890" "0" "30" "16" "2138554" "2138554" "subst" "0" "01943" "TSC2_003637" "g.2138554G>C" "" "" "" "TSC2(NM_000548.3):c.5367G>C (p.E1789D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088553G>C" "" "likely benign" "" "0000317891" "0" "10" "16" "2138570" "2138570" "subst" "0.00148943" "01943" "TSC2_000666" "g.2138570C>T" "" "" "" "TSC2(NM_000548.3):c.5383C>T (p.R1795C, p.(Arg1795Cys)), TSC2(NM_000548.5):c.5383C>T (p.R1795C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088569C>T" "" "benign" "" "0000317892" "0" "10" "16" "2138584" "2138584" "subst" "0.0733337" "01943" "TSC2_000002" "g.2138584G>C" "" "" "" "PKD1(NM_001009944.3):c.*1144C>G, TSC2(NM_000548.3):c.5397G>C (p.S1799=), TSC2(NM_000548.5):c.5397G>C (p.S1799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088583G>C" "" "benign" "" "0000317893" "0" "90" "16" "2105460" "2105460" "subst" "0" "01943" "TSC2_003048" "g.2105460T>C" "" "" "" "TSC2(NM_000548.3):c.539T>C (p.L180P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055459T>C" "" "pathogenic" "" "0000317895" "0" "10" "16" "2138607" "2138610" "del" "0" "01943" "TSC2_000302" "g.2138607_2138610del" "" "" "" "TSC2(NM_000548.3):c.5420_5423delTGTG (p.V1807Efs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088606_2088609del" "" "benign" "" "0000317896" "0" "90" "16" "2138609" "2138610" "del" "0" "01943" "TSC2_000303" "g.2138609_2138610del" "" "" "" "TSC2(NM_000548.3):c.5422_5423delTG (p.*1808Rfs*?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088608_2088609del" "" "pathogenic" "" "0000317897" "0" "90" "16" "2105486" "2105496" "del" "0" "01943" "TSC2_002125" "g.2105486_2105496del" "" "" "" "TSC2(NM_000548.3):c.565_575delTGTTACCTCGA (p.C189Rfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055485_2055495del" "" "pathogenic" "" "0000317899" "0" "90" "16" "2105491" "2105491" "subst" "0" "01943" "TSC2_002126" "g.2105491C>A" "" "" "" "TSC2(NM_000548.3):c.570C>A (p.Y190*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055490C>A" "" "pathogenic" "" "0000317900" "0" "50" "16" "2105507" "2105507" "subst" "3.24852E-5" "01943" "TSC2_000356" "g.2105507G>A" "" "" "" "TSC2(NM_000548.3):c.586G>A (p.A196T), TSC2(NM_000548.5):c.586G>A (p.(Ala196Thr), p.A196T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055506G>A" "" "VUS" "" "0000317902" "0" "90" "16" "2105519" "2105519" "subst" "0" "01943" "TSC2_000095" "g.2105519C>T" "" "" "" "TSC2(NM_000548.3):c.598C>T (p.Q200*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055518C>T" "" "pathogenic" "" "0000317903" "0" "90" "16" "2105522" "2105522" "subst" "0" "01943" "TSC2_000897" "g.2105522T>G" "" "" "" "TSC2(NM_000548.3):c.599+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055521T>G" "" "pathogenic" "" "0000317904" "0" "90" "16" "2105525" "2105525" "subst" "0" "01943" "TSC2_000360" "g.2105525G>A" "" "" "" "TSC2(NM_000548.3):c.599+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055524G>A" "" "pathogenic" "" "0000317905" "0" "90" "16" "2106194" "2106194" "subst" "0" "01943" "TSC2_002475" "g.2106194C>A" "" "" "" "TSC2(NM_000548.3):c.600-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056193C>A" "" "pathogenic" "" "0000317906" "0" "50" "16" "2106219" "2106219" "subst" "8.20123E-6" "01943" "TSC2_002129" "g.2106219C>T" "" "" "" "TSC2(NM_000548.3):c.622C>T (p.R208W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056218C>T" "" "VUS" "" "0000317907" "0" "30" "16" "2106227" "2106227" "subst" "0.000270694" "01943" "TSC2_003597" "g.2106227G>A" "" "" "" "TSC2(NM_000548.3):c.630G>A (p.A210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056226G>A" "" "likely benign" "" "0000317908" "0" "10" "16" "2106362" "2106362" "subst" "0" "01943" "TSC2_000106" "g.2106362C>G" "" "" "" "TSC2(NM_000548.3):c.648+117C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056361C>G" "" "benign" "" "0000317909" "0" "90" "16" "2106246" "2106246" "subst" "0" "01943" "TSC2_000365" "g.2106246G>A" "" "" "" "TSC2(NM_000548.3):c.648+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056245G>A" "" "pathogenic" "" "0000317910" "0" "10" "16" "2106619" "2106619" "subst" "5.82755E-5" "01943" "TSC2_002130" "g.2106619G>T" "" "" "" "TSC2(NM_000548.3):c.649-26G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056618G>T" "" "benign" "" "0000317911" "0" "90" "16" "2106652" "2106652" "subst" "0" "01943" "TSC2_002012" "g.2106652T>C" "" "" "" "TSC2(NM_000548.3):c.656T>C (p.L219P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056651T>C" "" "pathogenic" "" "0000317912" "0" "90" "16" "2106653" "2106653" "del" "0" "01943" "TSC2_002131" "g.2106653del" "" "" "" "TSC2(NM_000548.3):c.657delG (p.Q220Rfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056652del" "" "pathogenic" "" "0000317913" "0" "90" "16" "2106654" "2106654" "subst" "0" "01943" "TSC2_000366" "g.2106654C>T" "" "" "" "TSC2(NM_000548.3):c.658C>T (p.Q220*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056653C>T" "" "pathogenic" "" "0000317914" "0" "90" "16" "2106661" "2106667" "del" "0" "01943" "TSC2_002132" "g.2106661_2106667del" "" "" "" "TSC2(NM_000548.3):c.665_671delTGGACGC (p.L222Pfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056660_2056666del" "" "pathogenic" "" "0000317915" "0" "90" "16" "2106680" "2106680" "del" "0" "01943" "TSC2_002133" "g.2106680del" "" "" "" "TSC2(NM_000548.3):c.684delC (p.Y228*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056679del" "" "pathogenic" "" "0000317916" "0" "50" "16" "2106696" "2106696" "subst" "0" "01943" "TSC2_001310" "g.2106696G>C" "" "" "" "TSC2(NM_000548.3):c.700G>C (p.E234Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056695G>C" "" "VUS" "" "0000317917" "0" "90" "16" "2106696" "2106696" "subst" "0" "01943" "TSC2_002134" "g.2106696G>T" "" "" "" "TSC2(NM_000548.3):c.700G>T (p.E234*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056695G>T" "" "pathogenic" "" "0000317918" "0" "90" "16" "2106705" "2106706" "dup" "0" "01943" "TSC2_002332" "g.2106705_2106706dup" "" "" "" "TSC2(NM_000548.3):c.709_710dupCC (p.L238Rfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056704_2056705dup" "" "pathogenic" "" "0000317920" "0" "90" "16" "2106723" "2106723" "del" "0" "01943" "TSC2_002135" "g.2106723del" "" "" "" "TSC2(NM_000548.3):c.727delC (p.L243Sfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056722del" "" "pathogenic" "" "0000317921" "0" "90" "16" "2106725" "2106726" "del" "0" "01943" "TSC2_000689" "g.2106725_2106726del" "" "" "" "TSC2(NM_000548.3):c.729_730delCT (p.C244Sfs*93)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056724_2056725del" "" "pathogenic" "" "0000317922" "0" "10" "16" "2106725" "2106725" "subst" "0.00337349" "01943" "TSC2_000122" "g.2106725C>G" "" "" "" "TSC2(NM_000548.3):c.729C>G (p.L243=), TSC2(NM_000548.5):c.729C>G (p.L243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056724C>G" "" "benign" "" "0000317923" "0" "90" "16" "2106726" "2106726" "subst" "0" "01943" "TSC2_001090" "g.2106726T>C" "" "" "" "TSC2(NM_000548.3):c.730T>C (p.C244R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056725T>C" "" "pathogenic" "" "0000317924" "0" "10" "16" "2106756" "2106756" "subst" "5.76602E-5" "01943" "TSC2_002053" "g.2106756G>A" "" "" "" "TSC2(NM_000548.3):c.760G>A (p.E254K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056755G>A" "" "benign" "" "0000317925" "0" "90" "16" "2106771" "2106771" "subst" "0" "01943" "TSC2_000805" "g.2106771G>A" "" "" "" "TSC2(NM_000548.3):c.774+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056770G>A" "" "pathogenic" "" "0000317926" "0" "90" "16" "2106771" "2106771" "subst" "0" "01943" "TSC2_002136" "g.2106771G>T" "" "" "" "TSC2(NM_000548.3):c.774+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056770G>T" "" "pathogenic" "" "0000317927" "0" "10" "16" "2106794" "2106794" "subst" "0" "01943" "TSC2_002334" "g.2106794G>T" "" "" "" "TSC2(NM_000548.3):c.774+24G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056793G>T" "" "benign" "" "0000317928" "0" "90" "16" "2107103" "2107103" "subst" "0" "01943" "TSC2_002137" "g.2107103C>G" "" "" "" "TSC2(NM_000548.3):c.775-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2057102C>G" "" "pathogenic" "" "0000317929" "0" "90" "16" "2107155" "2107157" "del" "0" "01943" "TSC2_001998" "g.2107155_2107157del" "" "" "" "TSC2(NM_000548.3):c.824_826delACA (p.N275del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2057154_2057156del" "" "pathogenic" "" "0000317930" "0" "90" "16" "2107157" "2107158" "del" "0" "01943" "TSC2_000131" "g.2107157_2107158del" "" "" "" "TSC2(NM_000548.3):c.826_827delAT (p.M276Vfs*61)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2057156_2057157del" "" "pathogenic" "" "0000317931" "0" "90" "16" "2107158" "2107158" "del" "0" "01943" "TSC2_003584" "g.2107158del" "" "" "" "TSC2(NM_000548.3):c.827delT (p.M276Sfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2057157del" "" "pathogenic" "" "0000317932" "0" "30" "16" "2107199" "2107199" "subst" "0" "01943" "TSC2_003598" "g.2107199C>T" "" "" "" "TSC2(NM_000548.3):c.848+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2057198C>T" "" "likely benign" "" "0000317933" "0" "10" "16" "2108724" "2108724" "subst" "0.00024052" "01943" "TSC2_002335" "g.2108724C>T" "" "" "" "TSC2(NM_000548.3):c.849-24C>T, TSC2(NM_000548.5):c.849-24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058723C>T" "" "benign" "" "0000317934" "0" "90" "16" "2108758" "2108758" "subst" "0" "01943" "TSC2_002139" "g.2108758G>T" "" "" "" "TSC2(NM_000548.3):c.859G>T (p.E287*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058757G>T" "" "pathogenic" "" "0000317935" "0" "30" "16" "2108784" "2108784" "subst" "1.90163E-5" "01943" "TSC2_003599" "g.2108784C>T" "" "" "" "TSC2(NM_000548.3):c.885C>T (p.A295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058783C>T" "" "likely benign" "" "0000317936" "0" "30" "16" "2108787" "2108787" "subst" "0" "01943" "TSC2_001314" "g.2108787G>A" "" "" "" "TSC2(NM_000548.3):c.888G>A (p.V296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058786G>A" "" "likely benign" "" "0000317937" "0" "90" "16" "2108825" "2108825" "del" "0" "01943" "TSC2_002140" "g.2108825del" "" "" "" "TSC2(NM_000548.3):c.926delT (p.L309Pfs*54)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058824del" "" "pathogenic" "" "0000317939" "0" "30" "16" "2108847" "2108847" "subst" "0" "01943" "TSC2_003600" "g.2108847G>C" "" "" "" "TSC2(NM_000548.3):c.948G>C (p.P316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058846G>C" "" "likely benign" "" "0000317941" "0" "90" "16" "2108856" "2108857" "del" "0" "01943" "TSC2_000807" "g.2108856_2108857del" "" "" "" "TSC2(NM_000548.3):c.957_958delGT (p.L320Afs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058855_2058856del" "" "pathogenic" "" "0000317942" "0" "90" "16" "2108872" "2108872" "subst" "0" "01943" "TSC2_002143" "g.2108872C>T" "" "" "" "TSC2(NM_000548.3):c.973C>T (p.Q325*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058871C>T" "" "pathogenic" "" "0000317943" "0" "10" "16" "2108887" "2108887" "subst" "0.000462771" "01943" "TSC2_002144" "g.2108887C>T" "" "" "" "TSC2(NM_000548.3):c.975+13C>T, TSC2(NM_000548.5):c.975+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058886C>T" "" "benign" "" "0000317944" "0" "10" "16" "2108879" "2108879" "subst" "0" "01943" "TSC2_002337" "g.2108879G>C" "" "" "" "TSC2(NM_000548.3):c.975+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058878G>C" "" "benign" "" "0000317945" "0" "90" "16" "2110657" "2110657" "subst" "0" "01943" "TSC2_002150" "g.2110657G>A" "" "" "" "TSC2(NM_000548.3):c.976-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060656G>A" "" "pathogenic" "" "0000317946" "0" "90" "16" "2110670" "2110670" "subst" "0" "01943" "TSC2_000123" "g.2110670G>A" "" "" "" "TSC2(NM_000548.3):c.976-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060669G>A" "" "pathogenic" "" "0000324458" "0" "50" "16" "2094680" "2094680" "subst" "0" "01804" "NTHL1_000005" "g.2094680G>A" "" "" "" "NTHL1(NM_002528.5):c.500C>T (p.(Thr167Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2044679G>A" "" "VUS" "" "0000324459" "0" "30" "16" "2096331" "2096331" "subst" "2.03872E-5" "01804" "NTHL1_000007" "g.2096331C>T" "" "" "" "NTHL1(NM_002528.5):c.176G>A (p.(Arg59Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2046330C>T" "" "likely benign" "" "0000324461" "0" "50" "16" "2098091" "2098111" "del" "0" "01804" "TSC2_003385" "g.2098091_2098111del" "" "" "" "TSC2(NM_000548.3):c.-30+3_-30+23del (p.(=)), TSC2(NM_001114382.2):c.-30+25_-30+45delAGTGGCGGTCCCCACGGGGCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048090_2048110del" "" "VUS" "" "0000324462" "0" "50" "16" "2107179" "2107179" "subst" "2.67964E-5" "01804" "TSC2_001313" "g.2107179G>A" "Screened in 18 pops and only found in GnomAD_South Asians (MAF = 4/22794 alleles)" "" "" "TSC2(NM_000548.3):c.848G>A (p.(Arg283Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2057178G>A" "" "VUS" "" "0000324463" "0" "50" "16" "2121616" "2121616" "subst" "4.07491E-6" "01804" "TSC2_003514" "g.2121616A>T" "" "" "" "TSC2(NM_000548.3):c.1945A>T (p.(Met649Leu)), TSC2(NM_000548.5):c.1945A>T (p.M649L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071615A>T" "" "VUS" "" "0000324466" "0" "50" "16" "2122244" "2122244" "subst" "0" "01804" "TSC2_003796" "g.2122244G>C" "" "" "" "TSC2(NM_000548.3):c.2100G>C (p.(Glu700Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072243G>C" "" "VUS" "" "0000324467" "0" "50" "16" "2127688" "2127688" "subst" "2.0333E-5" "01804" "TSC2_003882" "g.2127688G>A" "" "" "" "TSC2(NM_000548.3):c.2927G>A (p.(Arg976Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077687G>A" "" "VUS" "" "0000324468" "0" "50" "16" "2129290" "2129290" "subst" "0" "01804" "TSC2_003328" "g.2129290G>A" "" "" "" "TSC2(NM_000548.3):c.3145G>A (p.(Glu1049Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079289G>A" "" "VUS" "" "0000324470" "0" "50" "16" "2133777" "2133777" "subst" "0" "01804" "TSC2_003982" "g.2133777C>T" "" "" "" "TSC2(NM_000548.3):c.3965C>T (p.(Ala1322Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083776C>T" "" "VUS" "" "0000324473" "0" "50" "16" "2134632" "2134632" "subst" "4.25822E-6" "01804" "TSC2_004038" "g.2134632G>A" "" "" "" "TSC2(NM_000548.3):c.4409G>A (p.(Arg1470His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084631G>A" "" "VUS" "" "0000324474" "0" "50" "16" "2136325" "2136325" "subst" "0" "01804" "TSC2_004097" "g.2136325C>G" "" "" "" "TSC2(NM_000548.3):c.4794C>G (p.(Asp1598Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086324C>G" "" "VUS" "" "0000324475" "0" "30" "16" "2137969" "2138002" "del" "0" "01804" "TSC2_000144" "g.2137969_2138002del" "" "" "" "PKD1(NM_001009944.3):c.*1770_*1803del, TSC2(NM_000548.3):c.5051_5068+16del, TSC2(NM_000548.3):c.5068+27_5069-47del (p.(=)), TSC2(NM_000548.5):c.505..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087968_2088001del" "" "likely benign" "" "0000324476" "0" "50" "16" "2138231" "2138231" "subst" "0" "01804" "TSC2_004177" "g.2138231G>A" "" "" "" "TSC2(NM_000548.3):c.5164G>A (p.(Ala1722Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088230G>A" "" "VUS" "" "0000324478" "0" "50" "16" "2140131" "2140131" "subst" "0.000192426" "01804" "PKD1_000808" "g.2140131T>C" "" "" "" "PKD1(NM_000296.3):c.12506A>G (p.(Lys4169Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2090130T>C" "" "VUS" "" "0000324479" "0" "50" "16" "2140974" "2140974" "subst" "0" "01804" "PKD1_000811" "g.2140974G>A" "" "" "" "PKD1(NM_000296.3):c.11911C>T (p.(Arg3971Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2090973G>A" "" "VUS" "" "0000324480" "0" "30" "16" "2141018" "2141018" "subst" "0.000614917" "01804" "PKD1_000567" "g.2141018C>T" "" "" "" "PKD1(NM_001009944.2):c.11870G>A (p.G3957D, p.(Gly3957Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2091017C>T" "" "likely benign" "" "0000324481" "0" "30" "16" "2141171" "2141171" "subst" "0.00106505" "01804" "PKD1_000812" "g.2141171C>A" "" "" "" "PKD1(NM_000296.3):c.11714G>T (p.(Cys3905Phe)), PKD1(NM_001009944.2):c.11717G>T (p.C3906F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2091170C>A" "" "likely benign" "" "0000339074" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "02327" "NTHL1_000001" "g.2096239G>A" "" "" "" "NTHL1(NM_001318193.1):c.268C>T (p.(Gln90Ter)), NTHL1(NM_002528.7):c.244C>T (p.Q82*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2046238G>A" "" "pathogenic" "" "0000339133" "0" "50" "16" "2121616" "2121616" "subst" "4.07491E-6" "02327" "TSC2_003514" "g.2121616A>T" "" "" "" "TSC2(NM_000548.3):c.1945A>T (p.(Met649Leu)), TSC2(NM_000548.5):c.1945A>T (p.M649L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071615A>T" "" "VUS" "" "0000343537" "0" "50" "16" "2103409" "2103409" "subst" "0" "02327" "TSC2_001996" "g.2103409C>T" "" "" "" "TSC2(NM_000548.3):c.292C>T (p.R98W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053408C>T" "" "VUS" "" "0000343906" "0" "30" "16" "2133767" "2133767" "subst" "2.91528E-5" "02327" "TSC2_004218" "g.2133767G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083766G>A" "" "likely benign" "" "0000346059" "0" "50" "16" "2140718" "2140718" "subst" "0.00012346" "02327" "PKD1_000041" "g.2140718C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2090717C>T" "" "VUS" "" "0000348198" "0" "50" "16" "2134571" "2134571" "subst" "8.42659E-6" "02327" "TSC2_004219" "g.2134571C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084570C>G" "" "VUS" "" "0000348211" "0" "30" "16" "2135019" "2135019" "subst" "0" "02327" "TSC2_004220" "g.2135019C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085018C>T" "" "likely benign" "" "0000348952" "0" "30" "16" "2110717" "2110717" "subst" "0" "02327" "TSC2_004216" "g.2110717C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060716C>G" "" "likely benign" "" "0000349668" "0" "30" "16" "2129044" "2129044" "subst" "3.6642E-5" "02327" "TSC2_001068" "g.2129044C>T" "" "" "" "TSC2(NM_000548.3):c.2978C>T (p.T993M), TSC2(NM_000548.5):c.2978C>T (p.T993M, p.(Thr993Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079043C>T" "" "likely benign" "" "0000351017" "0" "90" "16" "2138143" "2138143" "subst" "0" "02327" "TSC2_000791" "g.2138143G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088142G>C" "" "pathogenic" "" "0000351018" "0" "70" "16" "2139919" "2139919" "subst" "0" "02327" "PKD1_000463" "g.2139919G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2089918G>A" "" "likely pathogenic" "" "0000484277" "0" "50" "16" "2094653" "2094653" "subst" "0.00195319" "03308" "NTHL1_000012" "g.2094653A>G" "" "" "" "" "" "Germline" "" "rs1805378" "0" "" "" "g.2044652A>G" "" "VUS" "" "0000557078" "0" "30" "16" "2090008" "2090008" "subst" "2.47095E-5" "02330" "NTHL1_000014" "g.2090008C>T" "" "" "" "NTHL1(NM_002528.7):c.832G>A (p.G278S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2040007C>T" "" "likely benign" "" "0000557079" "0" "30" "16" "2090051" "2090051" "subst" "0.000197653" "01943" "NTHL1_000015" "g.2090051G>A" "" "" "" "NTHL1(NM_002528.7):c.792-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2040050G>A" "" "likely benign" "" "0000557080" "0" "70" "16" "2090217" "2090217" "dup" "0" "01943" "NTHL1_000016" "g.2090217dup" "" "" "" "NTHL1(NM_002528.7):c.709dupA (p.I237Nfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2040216dup" "" "likely pathogenic" "" "0000557081" "0" "30" "16" "2093649" "2093649" "subst" "0" "02330" "NTHL1_000017" "g.2093649C>G" "" "" "" "NTHL1(NM_002528.7):c.604G>C (p.E202Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2043648C>G" "" "likely benign" "" "0000557085" "0" "30" "16" "2094653" "2094653" "subst" "0.00195319" "02330" "NTHL1_000012" "g.2094653A>G" "" "" "" "NTHL1(NM_001318194.1):c.173T>C (p.(Ile58Thr)), NTHL1(NM_002528.7):c.503T>C (p.I168T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2044652A>G" "" "likely benign" "" "0000557086" "0" "50" "16" "2094653" "2094653" "subst" "0.00195319" "01804" "NTHL1_000012" "g.2094653A>G" "" "" "" "NTHL1(NM_001318194.1):c.173T>C (p.(Ile58Thr)), NTHL1(NM_002528.7):c.503T>C (p.I168T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2044652A>G" "" "VUS" "" "0000557087" "0" "50" "16" "2094653" "2094653" "subst" "0.00195319" "02327" "NTHL1_000012" "g.2094653A>G" "" "" "" "NTHL1(NM_001318194.1):c.173T>C (p.(Ile58Thr)), NTHL1(NM_002528.7):c.503T>C (p.I168T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2044652A>G" "" "VUS" "" "0000557088" "0" "50" "16" "2094653" "2094653" "subst" "0.00195319" "02325" "NTHL1_000012" "g.2094653A>G" "" "" "" "NTHL1(NM_001318194.1):c.173T>C (p.(Ile58Thr)), NTHL1(NM_002528.7):c.503T>C (p.I168T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2044652A>G" "" "VUS" "" "0000557091" "0" "50" "16" "2096202" "2096202" "subst" "0" "01943" "NTHL1_000023" "g.2096202A>G" "" "" "" "NTHL1(NM_002528.7):c.281T>C (p.M94T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2046201A>G" "" "VUS" "" "0000557092" "0" "50" "16" "2096209" "2096209" "subst" "0.000934762" "02330" "NTHL1_000006" "g.2096209G>A" "" "" "" "NTHL1(NM_002528.7):c.274C>T (p.R92C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2046208G>A" "" "VUS" "" "0000557093" "0" "30" "16" "2096209" "2096209" "subst" "0.000934762" "02327" "NTHL1_000006" "g.2096209G>A" "" "" "" "NTHL1(NM_002528.7):c.274C>T (p.R92C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2046208G>A" "" "likely benign" "" "0000557094" "0" "30" "16" "2096342" "2096342" "subst" "2.85612E-5" "01943" "NTHL1_000024" "g.2096342C>T" "" "" "" "NTHL1(NM_002528.7):c.141G>A (p.V47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2046341C>T" "" "likely benign" "" "0000557095" "0" "30" "16" "2096345" "2096345" "subst" "0.000106147" "02330" "NTHL1_000025" "g.2096345G>A" "" "" "" "NTHL1(NM_002528.7):c.138C>T (p.P46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2046344G>A" "" "likely benign" "" "0000557097" "0" "30" "16" "2097796" "2097796" "subst" "0.000136478" "02330" "NTHL1_000256" "g.2097796G>C" "" "" "" "NTHL1(NM_002528.7):c.29C>G (p.T10S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2047795G>C" "" "likely benign" "" "0000557101" "0" "50" "16" "2100414" "2100414" "subst" "1.2189E-5" "01943" "TSC2_003640" "g.2100414A>C" "" "" "" "TSC2(NM_000548.3):c.152A>C (p.E51A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2050413A>C" "" "VUS" "" "0000557102" "0" "30" "16" "2100414" "2100414" "subst" "1.2189E-5" "02326" "TSC2_003640" "g.2100414A>C" "" "" "" "TSC2(NM_000548.3):c.152A>C (p.E51A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2050413A>C" "" "likely benign" "" "0000557104" "0" "30" "16" "2103345" "2103345" "subst" "0.00332754" "01943" "TSC2_000035" "g.2103345C>T" "" "" "" "TSC2(NM_000548.5):c.228C>T (p.H76=), TSC2(NM_001114382.2):c.228C>T (p.H76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2053344C>T" "" "likely benign" "" "0000557105" "0" "90" "16" "2103356" "2103366" "dup" "0" "01943" "TSC2_002114" "g.2103356_2103366dup" "" "" "" "TSC2(NM_000548.3):c.239_249dupCACTCTGGAAG (p.A84Hfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2053355_2053365dup" "" "pathogenic" "" "0000557106" "0" "90" "16" "2103385" "2103385" "subst" "0" "01943" "TSC2_000036" "g.2103385C>T" "" "" "" "TSC2(NM_000548.3):c.268C>T (p.Q90*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2053384C>T" "" "pathogenic" "" "0000557107" "0" "30" "16" "2103414" "2103414" "subst" "3.56779E-5" "01943" "TSC2_001451" "g.2103414C>T" "" "" "" "TSC2(NM_000548.3):c.297C>T (p.H99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2053413C>T" "" "likely benign" "" "0000557108" "0" "90" "16" "2103454" "2103455" "dup" "0" "01943" "TSC2_002330" "g.2103454_2103455dup" "" "" "" "TSC2(NM_000548.3):c.336+2_336+3insGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2053453_2053454dup" "" "pathogenic" "" "0000557109" "0" "90" "16" "2104312" "2104312" "dup" "0" "01943" "TSC2_000965" "g.2104312dup" "" "" "" "TSC2(NM_000548.3):c.352dupG (p.V118Gfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2054311dup" "" "pathogenic" "" "0000557110" "0" "30" "16" "2104334" "2104334" "subst" "8.12156E-6" "02330" "TSC2_001453" "g.2104334A>G" "" "" "" "TSC2(NM_000548.5):c.374A>G (p.K125R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2054333A>G" "" "likely benign" "" "0000557111" "0" "30" "16" "2104416" "2104416" "subst" "0" "02330" "TSC2_001454" "g.2104416C>T" "" "" "" "TSC2(NM_000548.5):c.456C>T (p.H152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2054415C>T" "" "likely benign" "" "0000557113" "0" "90" "16" "2105430" "2105431" "ins" "0" "01943" "TSC2_002124" "g.2105430_2105431insAT" "" "" "" "TSC2(NM_000548.3):c.509_510insAT (p.G171Lfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2055429_2055430insAT" "" "pathogenic" "" "0000557114" "0" "90" "16" "2105490" "2105490" "dup" "0" "01943" "TSC2_000093" "g.2105490dup" "" "" "" "TSC2(NM_000548.3):c.569dupA (p.Y190*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2055489dup" "" "pathogenic" "" "0000557116" "0" "30" "16" "2105506" "2105506" "subst" "1.62425E-5" "02330" "TSC2_001456" "g.2105506C>T" "" "" "" "TSC2(NM_000548.5):c.585C>T (p.I195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2055505C>T" "" "likely benign" "" "0000557117" "0" "90" "16" "2105516" "2105519" "dup" "0" "01943" "TSC2_003596" "g.2105516_2105519dup" "" "" "" "TSC2(NM_000548.3):c.595_598dupGTTC (p.Q200Rfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2055515_2055518dup" "" "pathogenic" "" "0000557118" "0" "50" "16" "2105524" "2105524" "subst" "0" "01943" "TSC2_002128" "g.2105524A>G" "" "" "" "TSC2(NM_000548.3):c.599+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2055523A>G" "" "VUS" "" "0000557120" "0" "30" "16" "2106700" "2106700" "subst" "4.0802E-5" "02330" "TSC2_001216" "g.2106700G>A" "" "" "" "TSC2(NM_000548.5):c.704G>A (p.S235N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2056699G>A" "" "likely benign" "" "0000557121" "0" "90" "16" "2106720" "2106720" "dup" "0" "01943" "TSC2_002333" "g.2106720dup" "" "" "" "TSC2(NM_000548.3):c.724dupA (p.T242Nfs*96)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2056719dup" "" "pathogenic" "" "0000557122" "0" "90" "16" "2107180" "2107180" "subst" "0" "01943" "TSC2_000806" "g.2107180G>A" "" "" "" "TSC2(NM_000548.3):c.848+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2057179G>A" "" "pathogenic" "" "0000557123" "0" "10" "16" "2107186" "2107186" "subst" "0.000743898" "01943" "TSC2_000898" "g.2107186G>A" "" "" "" "TSC2(NM_000548.5):c.848+7G>A, TSC2(NM_001114382.2):c.848+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2057185G>A" "" "benign" "" "0000557125" "0" "90" "16" "2108745" "2108745" "subst" "0" "02327" "TSC2_000330" "g.2108745T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2058744T>G" "" "pathogenic" "" "0000557126" "0" "90" "16" "2108747" "2108747" "subst" "0" "01943" "TSC2_002084" "g.2108747G>C" "" "" "" "TSC2(NM_000548.3):c.849-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2058746G>C" "" "pathogenic" "" "0000557127" "0" "10" "16" "2108755" "2108755" "subst" "0.00180267" "02330" "TSC2_000160" "g.2108755A>G" "" "" "" "TSC2(NM_000548.3):c.856A>G (p.M286V), TSC2(NM_000548.5):c.856A>G (p.M286V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2058754A>G" "" "benign" "" "0000557128" "0" "90" "16" "2108827" "2108827" "dup" "0" "01943" "TSC2_002141" "g.2108827dup" "" "" "" "TSC2(NM_000548.3):c.928dupT (p.Y310Lfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2058826dup" "" "pathogenic" "" "0000557129" "0" "90" "16" "2108848" "2108849" "ins" "0" "01943" "TSC2_002142" "g.2108848_2108849insTA" "" "" "" "TSC2(NM_000548.3):c.949_950insTA (p.T317Ifs*47)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2058847_2058848insTA" "" "pathogenic" "" "0000557130" "0" "30" "16" "2108887" "2108887" "subst" "0.000462771" "02330" "TSC2_002144" "g.2108887C>T" "" "" "" "TSC2(NM_000548.3):c.975+13C>T, TSC2(NM_000548.5):c.975+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2058886C>T" "" "likely benign" "" "0000557132" "0" "90" "16" "2110656" "2110656" "subst" "0" "01943" "TSC2_000184" "g.2110656G>A" "" "" "" "TSC2(NM_000548.3):c.976-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2060655G>A" "" "pathogenic" "" "0000557133" "0" "30" "16" "2110662" "2110662" "subst" "4.06388E-6" "02330" "TSC2_001457" "g.2110662G>A" "" "" "" "TSC2(NM_000548.5):c.976-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2060661G>A" "" "likely benign" "" "0000557134" "0" "90" "16" "2110673" "2110673" "dup" "0" "01943" "TSC2_002151" "g.2110673dup" "" "" "" "TSC2(NM_000548.3):c.978dupC (p.M327Hfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2060672dup" "" "pathogenic" "" "0000557135" "0" "10" "16" "2110735" "2110735" "subst" "2.84301E-5" "01943" "TSC2_002339" "g.2110735A>G" "" "" "" "TSC2(NM_000548.3):c.1040A>G (p.K347R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2060734A>G" "" "benign" "" "0000557136" "0" "30" "16" "2110765" "2110765" "subst" "0.000446936" "01804" "TSC2_002016" "g.2110765C>T" "" "" "" "TSC2(NM_000548.3):c.1070C>T (p.A357V, p.(Ala357Val)), TSC2(NM_000548.5):c.1070C>T (p.A357V), TSC2(NM_001114382.2):c.1070C>T (p.A357V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2060764C>T" "" "likely benign" "" "0000557137" "0" "30" "16" "2110795" "2110795" "subst" "0.0138783" "01804" "TSC2_000163" "g.2110795G>A" "" "" "" "TSC2(NM_000548.3):c.1100G>A (p.R367Q, p.(Arg367Gln)), TSC2(NM_000548.5):c.1100G>A (p.R367Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2060794G>A" "" "likely benign" "" "0000557143" "0" "10" "16" "2112116" "2112116" "dup" "0" "01943" "TSC2_002154" "g.2112116dup" "" "" "" "TSC2(NM_000548.3):c.1257+107dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062115dup" "" "benign" "" "0000557144" "0" "10" "16" "2112466" "2112466" "dup" "0" "01943" "TSC2_002156" "g.2112466dup" "" "" "" "TSC2(NM_000548.3):c.1258-32dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062465dup" "" "benign" "" "0000557145" "0" "10" "16" "2112617" "2112617" "subst" "0.000758452" "02330" "TSC2_000274" "g.2112617T>G" "" "" "" "TSC2(NM_000548.5):c.1361+16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062616T>G" "" "benign" "" "0000557146" "0" "30" "16" "2112976" "2112976" "subst" "2.02716E-5" "02330" "TSC2_003294" "g.2112976C>T" "" "" "" "TSC2(NM_000548.5):c.1365C>T (p.S455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062975C>T" "" "likely benign" "" "0000557147" "0" "50" "16" "2112977" "2112977" "subst" "2.7019E-5" "02329" "TSC2_002017" "g.2112977G>A" "" "" "" "TSC2(NM_000548.3):c.1366G>A (p.E456K), TSC2(NM_000548.5):c.1366G>A (p.E456K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062976G>A" "" "VUS" "" "0000557148" "0" "30" "16" "2112988" "2112988" "subst" "0.000660351" "01943" "TSC2_000168" "g.2112988C>T" "" "" "" "TSC2(NM_001114382.2):c.1377C>T (p.G459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062987C>T" "" "likely benign" "" "0000557149" "0" "10" "16" "2112989" "2112989" "subst" "0.00121899" "02330" "TSC2_001096" "g.2112989G>A" "" "" "" "TSC2(NM_000548.3):c.1378G>A (p.A460T), TSC2(NM_000548.5):c.1378G>A (p.A460T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062988G>A" "" "benign" "" "0000557150" "0" "50" "16" "2112996" "2112996" "subst" "0" "02325" "TSC2_001459" "g.2112996G>T" "" "" "" "TSC2(NM_001114382.3):c.1385G>T (p.R462L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062995G>T" "" "VUS" "" "0000557151" "0" "90" "16" "2112996" "2112997" "dup" "0" "01943" "TSC2_002160" "g.2112996_2112997dup" "" "" "" "TSC2(NM_000548.3):c.1385_1386dupGC (p.I463Afs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062995_2062996dup" "" "pathogenic" "" "0000557153" "0" "30" "16" "2114268" "2114268" "subst" "0" "02330" "TSC2_001460" "g.2114268T>C" "" "" "" "TSC2(NM_000548.5):c.1444-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2064267T>C" "" "likely benign" "" "0000557154" "0" "90" "16" "2114334" "2114334" "del" "0" "01943" "TSC2_002345" "g.2114334del" "" "" "" "TSC2(NM_000548.3):c.1505delA (p.H502Pfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2064333del" "" "pathogenic" "" "0000557155" "0" "90" "16" "2114337" "2114337" "dup" "0" "01943" "TSC2_002166" "g.2114337dup" "" "" "" "TSC2(NM_000548.3):c.1508dupA (p.V504Gfs*85)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2064336dup" "" "pathogenic" "" "0000557156" "0" "90" "16" "2114393" "2114393" "dup" "0" "01943" "TSC2_002168" "g.2114393dup" "" "" "" "TSC2(NM_000548.3):c.1564dupC (p.H522Pfs*67)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2064392dup" "" "pathogenic" "" "0000557157" "0" "90" "16" "2114394" "2114395" "ins" "0" "01943" "TSC2_001461" "g.2114394_2114395insAC" "" "" "" "TSC2(NM_000548.3):c.1565_1566insAC (p.H522Qfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2064393_2064394insAC" "" "pathogenic" "" "0000557158" "0" "30" "16" "2114406" "2114406" "subst" "5.28189E-5" "01943" "TSC2_002679" "g.2114406G>C" "" "" "" "TSC2(NM_000548.5):c.1577G>C (p.S526T), TSC2(NM_001114382.2):c.1577G>C (p.S526T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2064405G>C" "" "likely benign" "" "0000557159" "0" "90" "16" "2114429" "2114429" "subst" "0" "01943" "TSC2_002170" "g.2114429G>T" "" "" "" "TSC2(NM_000548.3):c.1599+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2064428G>T" "" "pathogenic" "" "0000557160" "0" "10" "16" "2115490" "2115490" "dup" "0" "01943" "TSC2_002172" "g.2115490dup" "" "" "" "TSC2(NM_000548.3):c.1600-30dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2065489dup" "" "benign" "" "0000557161" "0" "90" "16" "2115518" "2115518" "subst" "0" "02325" "TSC2_001462" "g.2115518A>C" "" "" "" "TSC2(NM_001114382.3):c.1600-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2065517A>C" "" "pathogenic" "" "0000557162" "0" "90" "16" "2115530" "2115542" "del" "0" "01943" "TSC2_002173" "g.2115530_2115542del" "" "" "" "TSC2(NM_000548.3):c.1610_1622delGCTCCCTCTCCCC (p.R537Hfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2065529_2065541del" "" "pathogenic" "" "0000557163" "0" "90" "16" "2115618" "2115637" "del" "0" "01943" "TSC2_002175" "g.2115618_2115637del" "" "" "" "TSC2(NM_000548.3):c.1698_1716+1delGCTTCTGGTCATCCTTCAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2065617_2065636del" "" "pathogenic" "" "0000557164" "0" "90" "16" "2115632" "2115632" "subst" "0" "01943" "TSC2_002176" "g.2115632T>C" "" "" "" "TSC2(NM_000548.3):c.1712T>C (p.L571P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2065631T>C" "" "pathogenic" "" "0000557166" "0" "10" "16" "2120487" "2120487" "subst" "0.00196373" "02330" "TSC2_000178" "g.2120487G>A" "" "" "" "TSC2(NM_000548.3):c.1747G>A (p.A583T, p.(Ala583Thr)), TSC2(NM_000548.5):c.1747G>A (p.A583T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070486G>A" "" "benign" "" "0000557167" "0" "10" "16" "2120487" "2120487" "subst" "0.00196373" "01943" "TSC2_000178" "g.2120487G>A" "" "" "" "TSC2(NM_000548.3):c.1747G>A (p.A583T, p.(Ala583Thr)), TSC2(NM_000548.5):c.1747G>A (p.A583T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070486G>A" "" "benign" "" "0000557168" "0" "30" "16" "2120487" "2120487" "subst" "0.00196373" "02329" "TSC2_000178" "g.2120487G>A" "" "" "" "TSC2(NM_000548.3):c.1747G>A (p.A583T, p.(Ala583Thr)), TSC2(NM_000548.5):c.1747G>A (p.A583T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070486G>A" "" "likely benign" "" "0000557169" "0" "90" "16" "2120498" "2120499" "dup" "0" "01943" "TSC2_002179" "g.2120498_2120499dup" "" "" "" "TSC2(NM_000548.3):c.1758_1759dupGT (p.Y587Cfs*112)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070497_2070498dup" "" "pathogenic" "" "0000557170" "0" "90" "16" "2120529" "2120531" "dup" "0" "01943" "TSC2_002180" "g.2120529_2120531dup" "" "" "" "TSC2(NM_000548.3):c.1789_1791dupCAC (p.H597dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070528_2070530dup" "" "pathogenic" "" "0000557171" "0" "90" "16" "2120544" "2120544" "dup" "0" "01943" "TSC2_002182" "g.2120544dup" "" "" "" "TSC2(NM_000548.3):c.1804dupT (p.Y602Lfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070543dup" "" "pathogenic" "" "0000557172" "0" "30" "16" "2120559" "2120559" "subst" "0.000651238" "02330" "TSC2_000008" "g.2120559G>A" "" "" "" "TSC2(NM_000548.3):c.1819G>A (p.A607T), TSC2(NM_000548.5):c.1819G>A (p.A607T), TSC2(NM_001114382.2):c.1819G>A (p.A607T), TSC2(NM_001114382.3):c.1819..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070558G>A" "" "likely benign" "" "0000557173" "0" "10" "16" "2120561" "2120561" "subst" "0.000301202" "01943" "TSC2_002353" "g.2120561G>A" "" "" "" "TSC2(NM_000548.3):c.1821G>A (p.A607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070560G>A" "" "benign" "" "0000557175" "0" "10" "16" "2120637" "2120637" "dup" "0" "01943" "TSC2_001463" "g.2120637dup" "" "" "" "TSC2(NM_000548.3):c.1839+58dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070636dup" "" "benign" "" "0000557177" "0" "50" "16" "2121554" "2121554" "subst" "4.06961E-6" "01943" "TSC2_001464" "g.2121554G>A" "" "" "" "TSC2(NM_000548.3):c.1883G>A (p.R628H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071553G>A" "" "VUS" "" "0000557178" "0" "90" "16" "2121605" "2121605" "dup" "0" "01943" "TSC2_002189" "g.2121605dup" "" "" "" "TSC2(NM_000548.3):c.1934dupT (p.C646Lfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071604dup" "" "pathogenic" "" "0000557179" "0" "30" "16" "2121616" "2121616" "subst" "4.07491E-6" "02330" "TSC2_003514" "g.2121616A>T" "" "" "" "TSC2(NM_000548.3):c.1945A>T (p.(Met649Leu)), TSC2(NM_000548.5):c.1945A>T (p.M649L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071615A>T" "" "likely benign" "" "0000557180" "0" "50" "16" "2121616" "2121616" "subst" "4.07491E-6" "02325" "TSC2_003514" "g.2121616A>T" "" "" "" "TSC2(NM_000548.3):c.1945A>T (p.(Met649Leu)), TSC2(NM_000548.5):c.1945A>T (p.M649L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071615A>T" "" "VUS" "" "0000557181" "0" "30" "16" "2121623" "2121623" "subst" "4.48965E-5" "02330" "TSC2_003306" "g.2121623C>T" "" "" "" "TSC2(NM_000548.5):c.1946+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071622C>T" "" "likely benign" "" "0000557182" "0" "90" "16" "2121762" "2121762" "subst" "0" "01943" "TSC2_003611" "g.2121762A>G" "" "" "" "TSC2(NM_000548.3):c.1947-23A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071761A>G" "" "pathogenic" "" "0000557183" "0" "90" "16" "2121784" "2121784" "subst" "0" "01943" "TSC2_002191" "g.2121784G>A" "" "" "" "TSC2(NM_000548.3):c.1947-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071783G>A" "" "pathogenic" "" "0000557184" "0" "30" "16" "2121819" "2121819" "subst" "5.03539E-5" "01804" "TSC2_001465" "g.2121819G>A" "" "" "" "TSC2(NM_000548.3):c.1981G>A (p.(Gly661Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071818G>A" "" "likely benign" "" "0000557185" "0" "10" "16" "2121869" "2121869" "subst" "0.00250745" "02327" "TSC2_000191" "g.2121869C>T" "" "" "" "TSC2(NM_000548.3):c.2031C>T (p.P677=, p.(Pro677=)), TSC2(NM_000548.5):c.2031C>T (p.P677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071868C>T" "" "benign" "" "0000557186" "0" "30" "16" "2121870" "2121870" "subst" "0.00106096" "02330" "TSC2_003308" "g.2121870G>A" "" "" "" "TSC2(NM_000548.3):c.2032G>A (p.A678T, p.(Ala678Thr)), TSC2(NM_000548.5):c.2032G>A (p.A678T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071869G>A" "" "likely benign" "" "0000557187" "0" "30" "16" "2121870" "2121870" "subst" "0.00106096" "01804" "TSC2_003308" "g.2121870G>A" "" "" "" "TSC2(NM_000548.3):c.2032G>A (p.A678T, p.(Ala678Thr)), TSC2(NM_000548.5):c.2032G>A (p.A678T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071869G>A" "" "likely benign" "" "0000557188" "0" "90" "16" "2121911" "2121912" "dup" "0" "01943" "TSC2_002355" "g.2121911_2121912dup" "" "" "" "TSC2(NM_000548.3):c.2073_2074dupCG (p.V692Afs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071910_2071911dup" "" "pathogenic" "" "0000557189" "0" "30" "16" "2121978" "2121978" "subst" "0.00921303" "01943" "TSC2_001224" "g.2121978A>G" "" "" "" "TSC2(NM_000548.3):c.2097+43A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071977A>G" "" "likely benign" "" "0000557191" "0" "90" "16" "2122251" "2122251" "dup" "0" "01943" "TSC2_002194" "g.2122251dup" "" "" "" "TSC2(NM_000548.3):c.2107dupT (p.W703Lfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2072250dup" "" "pathogenic" "" "0000557192" "0" "50" "16" "2122257" "2122257" "subst" "0" "01943" "TSC2_001466" "g.2122257G>C" "" "" "" "TSC2(NM_001114382.2):c.2113G>C (p.V705L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2072256G>C" "" "VUS" "" "0000557193" "0" "90" "16" "2122327" "2122327" "dup" "0" "01943" "TSC2_002356" "g.2122327dup" "" "" "" "TSC2(NM_000548.3):c.2183dupG (p.C728Wfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2072326dup" "" "pathogenic" "" "0000557194" "0" "30" "16" "2122369" "2122369" "subst" "0" "02330" "TSC2_001467" "g.2122369C>G" "" "" "" "TSC2(NM_000548.5):c.2220+5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2072368C>G" "" "likely benign" "" "0000557195" "0" "10" "16" "2122823" "2122824" "dup" "0" "01943" "TSC2_001468" "g.2122823_2122824dup" "" "" "" "TSC2(NM_000548.3):c.2221-26_2221-25dupGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2072822_2072823dup" "" "benign" "" "0000557196" "0" "50" "16" "2122857" "2122857" "subst" "0" "02325" "TSC2_001469" "g.2122857G>T" "" "" "" "TSC2(NM_000548.5):c.2228G>T (p.G743V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2072856G>T" "" "VUS" "" "0000557197" "0" "30" "16" "2124203" "2124203" "subst" "8.20028E-6" "02330" "TSC2_001470" "g.2124203C>T" "" "" "" "TSC2(NM_000548.3):c.2358C>T (p.R786=), TSC2(NM_000548.5):c.2358C>T (p.R786=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2074202C>T" "" "likely benign" "" "0000557198" "0" "90" "16" "2124225" "2124225" "dup" "0" "01943" "TSC2_002205" "g.2124225dup" "" "" "" "TSC2(NM_000548.3):c.2380dupC (p.Q794Pfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2074224dup" "" "pathogenic" "" "0000557199" "0" "30" "16" "2124272" "2124272" "subst" "0.000183152" "02330" "TSC2_002207" "g.2124272C>T" "" "" "" "TSC2(NM_000548.3):c.2427C>T (p.S809=), TSC2(NM_000548.5):c.2427C>T (p.S809=, p.(Ser809=)), TSC2(NM_001114382.2):c.2427C>T (p.S809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2074271C>T" "" "likely benign" "" "0000557200" "0" "30" "16" "2124296" "2124296" "subst" "0.000948172" "01943" "TSC2_002359" "g.2124296C>T" "" "" "" "TSC2(NM_000548.3):c.2451C>T (p.D817=), TSC2(NM_000548.5):c.2451C>T (p.D817=), TSC2(NM_001114382.2):c.2451C>T (p.D817=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2074295C>T" "" "likely benign" "" "0000557201" "0" "30" "16" "2124347" "2124347" "subst" "0" "01943" "TSC2_001471" "g.2124347A>G" "" "" "" "TSC2(NM_001114382.2):c.2502A>G (p.S834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2074346A>G" "" "likely benign" "" "0000557202" "0" "30" "16" "2125819" "2125819" "subst" "0.000346074" "02330" "TSC2_001472" "g.2125819C>T" "" "" "" "TSC2(NM_000548.5):c.2565C>T (p.H855=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2075818C>T" "" "likely benign" "" "0000557203" "0" "90" "16" "2125862" "2125867" "dup" "0" "01943" "TSC2_001027" "g.2125862_2125867dup" "" "" "" "TSC2(NM_000548.3):c.2608_2613dupGCCATC (p.A870_I871dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2075861_2075866dup" "" "pathogenic" "" "0000557204" "0" "10" "16" "2125937" "2125937" "subst" "0.106649" "02326" "TSC2_000206" "g.2125937C>G" "" "" "" "TSC2(NM_000548.3):c.2639+44C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2075936C>G" "" "benign" "" "0000557205" "0" "30" "16" "2126141" "2126141" "subst" "8.94491E-5" "02330" "TSC2_003448" "g.2126141C>G" "" "" "" "TSC2(NM_000548.5):c.2712C>G (p.F904L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2076140C>G" "" "likely benign" "" "0000557206" "0" "50" "16" "2126488" "2126492" "dup" "0" "01943" "TSC2_000483" "g.2126488_2126492dup" "" "" "" "TSC2(NM_000548.3):c.2743-5_2743-4insCCAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2076487_2076491dup" "" "VUS" "" "0000557207" "0" "30" "16" "2126489" "2126489" "subst" "0.000268402" "02330" "TSC2_000480" "g.2126489C>A" "" "" "" "TSC2(NM_000548.3):c.2743-3C>A, TSC2(NM_000548.5):c.2743-3C>A, TSC2(NM_001114382.2):c.2743-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2076488C>A" "" "likely benign" "" "0000557208" "0" "30" "16" "2126533" "2126533" "subst" "0.000333333" "01943" "TSC2_003323" "g.2126533C>T" "" "" "" "TSC2(NM_001114382.2):c.2784C>T (p.P928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2076532C>T" "" "likely benign" "" "0000557213" "0" "10" "16" "2127819" "2127821" "dup" "0" "01943" "TSC2_002368" "g.2127819_2127821dup" "" "" "" "TSC2(NM_000548.3):c.2966+92_2966+94dupATC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2077818_2077820dup" "" "benign" "" "0000557217" "0" "90" "16" "2129034" "2129037" "dup" "0" "01943" "TSC2_002369" "g.2129034_2129037dup" "" "" "" "TSC2(NM_000548.3):c.2968_2971dupAGGA (p.I991Kfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079033_2079036dup" "" "pathogenic" "" "0000557218" "0" "30" "16" "2129044" "2129044" "subst" "3.6642E-5" "02330" "TSC2_001068" "g.2129044C>T" "" "" "" "TSC2(NM_000548.3):c.2978C>T (p.T993M), TSC2(NM_000548.5):c.2978C>T (p.T993M, p.(Thr993Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079043C>T" "" "likely benign" "" "0000557219" "0" "10" "16" "2129044" "2129044" "subst" "3.6642E-5" "01943" "TSC2_001068" "g.2129044C>T" "" "" "" "TSC2(NM_000548.3):c.2978C>T (p.T993M), TSC2(NM_000548.5):c.2978C>T (p.T993M, p.(Thr993Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079043C>T" "" "benign" "" "0000557220" "0" "30" "16" "2129044" "2129044" "subst" "3.6642E-5" "02329" "TSC2_001068" "g.2129044C>T" "" "" "" "TSC2(NM_000548.3):c.2978C>T (p.T993M), TSC2(NM_000548.5):c.2978C>T (p.T993M, p.(Thr993Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079043C>T" "" "likely benign" "" "0000557221" "0" "90" "16" "2129164" "2129164" "dup" "0" "01943" "TSC2_000493" "g.2129164dup" "" "" "" "TSC2(NM_000548.3):c.3098dupA (p.Y1033*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079163dup" "" "pathogenic" "" "0000557222" "0" "90" "16" "2129197" "2129197" "subst" "0" "01943" "TSC2_002225" "g.2129197G>A" "" "" "" "TSC2(NM_000548.3):c.3131G>A (p.R1044K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079196G>A" "" "pathogenic" "" "0000557223" "0" "30" "16" "2129567" "2129567" "subst" "2.93834E-5" "01943" "TSC2_003172" "g.2129567C>T" "" "" "" "TSC2(NM_000548.3):c.3294C>T (p.P1098=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079566C>T" "" "likely benign" "" "0000557224" "0" "30" "16" "2129569" "2129569" "subst" "0" "02330" "TSC2_001473" "g.2129569G>C" "" "" "" "TSC2(NM_000548.5):c.3296G>C (p.G1099A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079568G>C" "" "likely benign" "" "0000557225" "0" "90" "16" "2129580" "2129581" "ins" "0" "01943" "TSC2_002235" "g.2129580_2129581insC" "" "" "" "TSC2(NM_000548.3):c.3307_3308insC (p.R1103Tfs*65)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079579_2079580insC" "" "pathogenic" "" "0000557226" "0" "90" "16" "2129600" "2129610" "del" "0" "01943" "TSC2_002237" "g.2129600_2129610del" "" "" "" "TSC2(NM_000548.3):c.3327_3337delGGCCAAGCTGG (p.A1110Vfs*54)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079599_2079609del" "" "pathogenic" "" "0000557227" "0" "50" "16" "2129632" "2129632" "subst" "0" "01943" "TSC2_002065" "g.2129632T>A" "" "" "" "TSC2(NM_000548.3):c.3359T>A (p.V1120E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079631T>A" "" "VUS" "" "0000557228" "0" "30" "16" "2129645" "2129645" "subst" "0" "02330" "TSC2_001474" "g.2129645C>T" "" "" "" "TSC2(NM_000548.5):c.3372C>T (p.A1124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079644C>T" "" "likely benign" "" "0000557229" "0" "90" "16" "2130165" "2130165" "subst" "0" "01943" "TSC2_000514" "g.2130165G>A" "" "" "" "TSC2(NM_000548.3):c.3398-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2080164G>A" "" "pathogenic" "" "0000557230" "0" "90" "16" "2130181" "2130182" "ins" "0" "01943" "TSC2_002374" "g.2130181_2130182insC" "" "" "" "TSC2(NM_000548.3):c.3413_3414insC (p.V1139Sfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2080180_2080181insC" "" "pathogenic" "" "0000557231" "0" "50" "16" "2130277" "2130277" "subst" "0" "01943" "TSC2_001475" "g.2130277C>T" "" "" "" "TSC2(NM_001114382.2):c.3509C>T (p.S1170L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2080276C>T" "" "VUS" "" "0000557232" "0" "30" "16" "2130384" "2130384" "subst" "0.000618873" "02330" "TSC2_000524" "g.2130384G>A" "" "" "" "TSC2(NM_000548.3):c.3610+6G>A, TSC2(NM_000548.5):c.3610+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2080383G>A" "" "likely benign" "" "0000557233" "0" "10" "16" "2130384" "2130384" "subst" "0.000618873" "01943" "TSC2_000524" "g.2130384G>A" "" "" "" "TSC2(NM_000548.3):c.3610+6G>A, TSC2(NM_000548.5):c.3610+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2080383G>A" "" "benign" "" "0000557234" "0" "30" "16" "2130384" "2130384" "subst" "0.000618873" "02325" "TSC2_000524" "g.2130384G>A" "" "" "" "TSC2(NM_000548.3):c.3610+6G>A, TSC2(NM_000548.5):c.3610+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2080383G>A" "" "likely benign" "" "0000557235" "0" "10" "16" "2130420" "2130420" "dup" "0" "01943" "TSC2_002375" "g.2130420dup" "" "" "" "TSC2(NM_000548.3):c.3610+42dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2080419dup" "" "benign" "" "0000557236" "0" "30" "16" "2131583" "2131583" "subst" "0" "02330" "TSC2_001476" "g.2131583G>C" "" "" "" "TSC2(NM_000548.5):c.3611-13G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081582G>C" "" "likely benign" "" "0000557237" "0" "90" "16" "2131622" "2131622" "del" "0" "01943" "TSC2_002245" "g.2131622del" "" "" "" "TSC2(NM_000548.3):c.3637delG (p.E1213Rfs*112)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081621del" "" "pathogenic" "" "0000557238" "0" "90" "16" "2131670" "2131670" "subst" "0" "01943" "TSC2_000527" "g.2131670C>T" "" "" "" "TSC2(NM_000548.3):c.3685C>T (p.Q1229*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081669C>T" "" "pathogenic" "" "0000557239" "0" "90" "16" "2131681" "2131681" "dup" "0" "01943" "TSC2_000783" "g.2131681dup" "" "" "" "TSC2(NM_000548.3):c.3696dupT (p.N1233*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081680dup" "" "pathogenic" "" "0000557240" "0" "90" "16" "2131684" "2131684" "dup" "0" "01943" "TSC2_002247" "g.2131684dup" "" "" "" "TSC2(NM_000548.3):c.3699dupC (p.A1234Rfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081683dup" "" "pathogenic" "" "0000557241" "0" "30" "16" "2131702" "2131702" "subst" "1.22209E-5" "01943" "TSC2_003621" "g.2131702G>A" "" "" "" "TSC2(NM_000548.3):c.3717G>A (p.E1239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081701G>A" "" "likely benign" "" "0000557242" "0" "90" "16" "2131735" "2131735" "del" "0" "01943" "TSC2_003622" "g.2131735del" "" "" "" "TSC2(NM_000548.3):c.3750delC (p.Y1250*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081734del" "" "pathogenic" "" "0000557243" "0" "30" "16" "2131788" "2131788" "subst" "0.000163084" "02330" "TSC2_001137" "g.2131788G>A" "" "" "" "TSC2(NM_000548.3):c.3803G>A (p.R1268H), TSC2(NM_000548.5):c.3803G>A (p.R1268H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081787G>A" "" "likely benign" "" "0000557244" "0" "90" "16" "2131800" "2131800" "subst" "0" "01943" "TSC2_001201" "g.2131800G>A" "" "" "" "TSC2(NM_000548.3):c.3814+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081799G>A" "" "pathogenic" "" "0000557245" "0" "30" "16" "2132422" "2132422" "subst" "0.00208155" "02330" "TSC2_000536" "g.2132422G>A" "" "" "" "TSC2(NM_000548.3):c.3815-15G>A, TSC2(NM_000548.5):c.3815-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2082421G>A" "" "likely benign" "" "0000557246" "0" "50" "16" "2132422" "2132422" "subst" "0.00208155" "01943" "TSC2_000536" "g.2132422G>A" "" "" "" "TSC2(NM_000548.3):c.3815-15G>A, TSC2(NM_000548.5):c.3815-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2082421G>A" "" "VUS" "" "0000557249" "0" "10" "16" "2133640" "2133640" "subst" "0" "02326" "TSC2_000272" "g.2133640C>G" "" "" "" "TSC2(NM_000548.3):c.3884-56C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2083639C>G" "" "benign" "" "0000557250" "0" "30" "16" "2133679" "2133679" "subst" "0.00052936" "02330" "TSC2_000541" "g.2133679C>G" "" "" "" "TSC2(NM_000548.3):c.3884-17C>G, TSC2(NM_000548.5):c.3884-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2083678C>G" "" "likely benign" "" "0000557251" "0" "10" "16" "2134208" "2134208" "subst" "8.93325E-5" "01943" "TSC2_002379" "g.2134208C>T" "" "" "" "TSC2(NM_000548.3):c.4006-21C>T, TSC2(NM_000548.5):c.4006-21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084207C>T" "" "benign" "" "0000557252" "0" "10" "16" "2134270" "2134270" "subst" "0.000109993" "01943" "TSC2_000763" "g.2134270G>A" "" "" "" "TSC2(NM_000548.3):c.4047G>A (p.A1349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084269G>A" "" "benign" "" "0000557253" "0" "90" "16" "2134311" "2134318" "dup" "0" "01943" "TSC2_002259" "g.2134311_2134318dup" "" "" "" "TSC2(NM_000548.3):c.4088_4095dupTCTCCTCG (p.E1366Sfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084310_2084317dup" "" "pathogenic" "" "0000557254" "0" "30" "16" "2134328" "2134328" "subst" "0.000253707" "02330" "TSC2_000558" "g.2134328C>T" "" "" "" "TSC2(NM_000548.5):c.4105C>T (p.R1369W, p.(Arg1369Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084327C>T" "" "likely benign" "" "0000557255" "0" "10" "16" "2134438" "2134438" "subst" "0.00890403" "02329" "TSC2_000946" "g.2134438C>T" "" "" "" "TSC2(NM_000548.3):c.4215C>T (p.A1405=, p.(Ala1405=)), TSC2(NM_000548.5):c.4215C>T (p.A1405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084437C>T" "" "benign" "" "0000557256" "0" "90" "16" "2134506" "2134506" "del" "0" "01943" "TSC2_002267" "g.2134506del" "" "" "" "TSC2(NM_000548.3):c.4283delC (p.A1428Vfs*48)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084505del" "" "pathogenic" "" "0000557257" "0" "30" "16" "2134516" "2134516" "subst" "0.000272893" "01943" "TSC2_000919" "g.2134516G>A" "" "" "" "TSC2(NM_001114382.2):c.4224G>A (p.S1408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084515G>A" "" "likely benign" "" "0000557258" "0" "90" "16" "2134575" "2134575" "dup" "0" "01943" "TSC2_002382" "g.2134575dup" "" "" "" "TSC2(NM_000548.3):c.4352dupG (p.S1452Lfs*72)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084574dup" "" "pathogenic" "" "0000557259" "0" "30" "16" "2134615" "2134615" "subst" "0" "01943" "TSC2_001480" "g.2134615C>T" "" "" "" "TSC2(NM_001114382.2):c.4323C>T (p.S1441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084614C>T" "" "likely benign" "" "0000557260" "0" "90" "16" "2134624" "2134625" "ins" "0" "01943" "TSC2_002272" "g.2134624_2134625insT" "" "" "" "TSC2(NM_000548.3):c.4401_4402insT (p.P1468Sfs*56)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084623_2084624insT" "" "pathogenic" "" "0000557261" "0" "90" "16" "2134632" "2134632" "dup" "0" "01943" "TSC2_002273" "g.2134632dup" "" "" "" "TSC2(NM_000548.3):c.4409dupG (p.R1471Qfs*53)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084631dup" "" "pathogenic" "" "0000557262" "0" "30" "16" "2134649" "2134649" "subst" "1.70555E-5" "02330" "TSC2_001481" "g.2134649G>A" "" "" "" "TSC2(NM_000548.5):c.4426G>A (p.E1476K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084648G>A" "" "likely benign" "" "0000557263" "0" "10" "16" "2134671" "2134671" "subst" "2.13591E-5" "01943" "TSC2_002385" "g.2134671G>C" "" "" "" "TSC2(NM_000548.3):c.4448G>C (p.R1483T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084670G>C" "" "benign" "" "0000557264" "0" "30" "16" "2134680" "2134680" "subst" "4.27394E-6" "02330" "TSC2_004254" "g.2134680C>T" "" "" "" "TSC2(NM_000548.5):c.4457C>T (p.A1486V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084679C>T" "" "likely benign" "" "0000557265" "0" "10" "16" "2134803" "2134803" "del" "0" "01943" "TSC2_002276" "g.2134803del" "" "" "" "TSC2(NM_000548.3):c.4493+87delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084802del" "" "benign" "" "0000557266" "0" "30" "16" "2134940" "2134940" "dup" "0" "02329" "TSC2_004050" "g.2134940dup" "" "" "" "TSC2(NM_000548.3):c.4494-12dupC, TSC2(NM_000548.5):c.4494-12dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084939dup" "" "likely benign" "" "0000557267" "0" "30" "16" "2135023" "2135023" "subst" "6.51121E-5" "01943" "TSC2_002070" "g.2135023A>G" "" "" "" "TSC2(NM_001114382.2):c.4496A>G (p.N1499S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2085022A>G" "" "likely benign" "" "0000557269" "0" "30" "16" "2135260" "2135260" "subst" "2.03654E-5" "02330" "TSC2_004069" "g.2135260C>T" "" "" "" "TSC2(NM_000548.3):c.4599C>T (p.L1533=), TSC2(NM_000548.5):c.4599C>T (p.L1533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2085259C>T" "" "likely benign" "" "0000557270" "0" "90" "16" "2135323" "2135323" "subst" "0" "01943" "TSC2_000599" "g.2135323G>A" "" "" "" "TSC2(NM_000548.3):c.4662G>A (p.Q1554=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2085322G>A" "" "pathogenic" "" "0000557271" "0" "30" "16" "2136156" "2136176" "dup" "0" "02330" "TSC2_000927" "g.2136156_2136176dup" "" "" "" "TSC2(NM_000548.3):c.4663-38_4663-18dupGGGAGTGATGCCACCCTGCCT, TSC2(NM_000548.5):c.4663-38_4663-18dupGGGAGTGATGCCACCCTGCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086155_2086175dup" "" "likely benign" "" "0000557272" "0" "50" "16" "2136156" "2136176" "dup" "0" "01943" "TSC2_000927" "g.2136156_2136176dup" "" "" "" "TSC2(NM_000548.3):c.4663-38_4663-18dupGGGAGTGATGCCACCCTGCCT, TSC2(NM_000548.5):c.4663-38_4663-18dupGGGAGTGATGCCACCCTGCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086155_2086175dup" "" "VUS" "" "0000557273" "0" "90" "16" "2136193" "2136193" "subst" "0" "01943" "TSC2_002285" "g.2136193G>C" "" "" "" "TSC2(NM_000548.3):c.4663-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086192G>C" "" "pathogenic" "" "0000557274" "0" "90" "16" "2136196" "2136196" "dup" "0" "01943" "TSC2_002389" "g.2136196dup" "" "" "" "TSC2(NM_000548.3):c.4665dupC (p.N1556Qfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086195dup" "" "pathogenic" "" "0000557275" "0" "90" "16" "2136203" "2136215" "dup" "0" "01943" "TSC2_002286" "g.2136203_2136215dup" "" "" "" "TSC2(NM_000548.3):c.4672_4684dupGAGCTCGCCATCC (p.L1562Rfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086202_2086214dup" "" "pathogenic" "" "0000557276" "0" "30" "16" "2136280" "2136280" "subst" "4.07385E-6" "01943" "TSC2_003628" "g.2136280G>A" "" "" "" "TSC2(NM_000548.3):c.4749G>A (p.E1583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086279G>A" "" "likely benign" "" "0000557277" "0" "90" "16" "2136293" "2136293" "subst" "0" "01943" "TSC2_000866" "g.2136293C>T" "" "" "" "TSC2(NM_000548.3):c.4762C>T (p.Q1588*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086292C>T" "" "pathogenic" "" "0000557278" "0" "90" "16" "2136308" "2136308" "dup" "0" "01943" "TSC2_002290" "g.2136308dup" "" "" "" "TSC2(NM_000548.3):c.4777dupT (p.Y1593Lfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086307dup" "" "pathogenic" "" "0000557279" "0" "90" "16" "2136360" "2136360" "subst" "0" "01943" "TSC2_000614" "g.2136360G>A" "" "" "" "TSC2(NM_000548.3):c.4829G>A (p.W1610*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086359G>A" "" "pathogenic" "" "0000557280" "0" "10" "16" "2136791" "2136791" "subst" "0.000527176" "01943" "TSC2_002395" "g.2136791C>T" "" "" "" "TSC2(NM_000548.3):c.4908C>T (p.D1636=), TSC2(NM_000548.5):c.4908C>T (p.D1636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086790C>T" "" "benign" "" "0000557281" "0" "30" "16" "2136791" "2136791" "subst" "0.000527176" "02329" "TSC2_002395" "g.2136791C>T" "" "" "" "TSC2(NM_000548.3):c.4908C>T (p.D1636=), TSC2(NM_000548.5):c.4908C>T (p.D1636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086790C>T" "" "likely benign" "" "0000557282" "0" "90" "16" "2136801" "2136801" "subst" "0" "01943" "TSC2_000598" "g.2136801C>T" "" "" "" "TSC2(NM_000548.3):c.4918C>T (p.H1640Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086800C>T" "" "pathogenic" "" "0000557283" "0" "90" "16" "2136855" "2136856" "dup" "0" "01943" "TSC2_003630" "g.2136855_2136856dup" "" "" "" "TSC2(NM_000548.3):c.4972_4973dupAA (p.L1659Sfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086854_2086855dup" "" "pathogenic" "" "0000557284" "0" "30" "16" "2137857" "2137857" "subst" "0.00229678" "01804" "TSC2_000629" "g.2137857C>T" "" "" "" "TSC2(NM_000548.3):c.4990-7C>T (p.(=)), TSC2(NM_001114382.2):c.4921-7C>T, TSC2(NM_001370404.1):c.4858-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2087856C>T" "" "likely benign" "" "0000557285" "0" "30" "16" "2137899" "2137899" "subst" "0.00103952" "01943" "TSC2_000630" "g.2137899G>A" "" "" "" "TSC2(NM_000548.3):c.5025G>A (p.P1675=), TSC2(NM_000548.5):c.5025G>A (p.P1675=), TSC2(NM_001370404.1):c.4893G>A (p.P1631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2087898G>A" "" "likely benign" "" "0000557286" "0" "30" "16" "2137969" "2138002" "dup" "0" "02330" "TSC2_000686" "g.2137969_2138002dup" "" "" "" "TSC2(NM_000548.5):c.5068_5069ins34 (p.D1690Gfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2087968_2088001dup" "" "likely benign" "" "0000557287" "0" "10" "16" "2138002" "2138036" "dup" "0" "01943" "TSC2_002399" "g.2138002_2138036dup" "" "" "" "TSC2(NM_000548.3):c.5069-47_5069-13dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088001_2088035dup" "" "benign" "" "0000557288" "0" "10" "16" "2138035" "2138037" "del" "0" "01943" "TSC2_002398" "g.2138035_2138037del" "" "" "" "TSC2(NM_000548.3):c.5069-14_5069-12delCCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088034_2088036del" "" "benign" "" "0000557289" "0" "30" "16" "2138086" "2138086" "subst" "0.000736593" "02330" "TSC2_000643" "g.2138086C>A" "" "" "" "TSC2(NM_000548.3):c.5106C>A (p.(Ile1702=), p.I1702=), TSC2(NM_000548.5):c.5106C>A (p.I1702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088085C>A" "" "likely benign" "" "0000557290" "0" "90" "16" "2138088" "2138088" "dup" "0" "01943" "TSC2_002304" "g.2138088dup" "" "" "" "TSC2(NM_000548.3):c.5108dupT (p.S1704Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088087dup" "" "pathogenic" "" "0000557291" "0" "30" "16" "2138096" "2138096" "subst" "0.000297089" "02330" "TSC2_000645" "g.2138096C>T" "" "" "" "TSC2(NM_000548.3):c.5116C>T (p.R1706C), TSC2(NM_000548.5):c.5116C>T (p.R1706C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088095C>T" "" "likely benign" "" "0000557292" "0" "50" "16" "2138096" "2138096" "subst" "0.000297089" "01943" "TSC2_000645" "g.2138096C>T" "" "" "" "TSC2(NM_000548.3):c.5116C>T (p.R1706C), TSC2(NM_000548.5):c.5116C>T (p.R1706C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088095C>T" "" "VUS" "" "0000557293" "0" "30" "16" "2138111" "2138111" "subst" "0.000231983" "02330" "TSC2_001243" "g.2138111G>A" "" "" "" "TSC2(NM_000548.5):c.5131G>A (p.V1711M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088110G>A" "" "likely benign" "" "0000557294" "0" "30" "16" "2138122" "2138122" "subst" "5.69754E-5" "02330" "TSC2_003245" "g.2138122G>A" "" "" "" "PKD1(NM_001009944.3):c.*1606C>T, TSC2(NM_000548.5):c.5142G>A (p.Q1714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088121G>A" "" "likely benign" "" "0000557295" "0" "90" "16" "2138134" "2138137" "dup" "0" "01943" "TSC2_002307" "g.2138134_2138137dup" "" "" "" "TSC2(NM_000548.3):c.5154_5157dupCGCA (p.N1720Rfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088133_2088136dup" "" "pathogenic" "" "0000557296" "0" "50" "16" "2138142" "2138142" "dup" "0" "01943" "TSC2_002309" "g.2138142dup" "" "" "" "TSC2(NM_000548.3):c.5160+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088141dup" "" "VUS" "" "0000557297" "0" "10" "16" "2138200" "2138203" "del" "0" "01943" "TSC2_000307" "g.2138200_2138203del" "" "" "" "TSC2(NM_000548.3):c.5161-28_5161-25delTGAG, TSC2(NM_000548.5):c.5161-28_5161-25delTGAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088199_2088202del" "" "benign" "" "0000557298" "0" "10" "16" "2138219" "2138219" "subst" "0.00311057" "02330" "TSC2_000297" "g.2138219C>T" "" "" "" "PKD1(NM_001009944.3):c.*1509G>A, TSC2(NM_000548.3):c.5161-9C>T, TSC2(NM_000548.5):c.5161-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088218C>T" "" "benign" "" "0000557300" "0" "50" "16" "2138267" "2138267" "subst" "0" "01943" "TSC2_001486" "g.2138267G>T" "" "" "" "TSC2(NM_000548.3):c.5200G>T (p.D1734Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088266G>T" "" "VUS" "" "0000557301" "0" "90" "16" "2138267" "2138267" "dup" "0" "01943" "TSC2_003636" "g.2138267dup" "" "" "" "TSC2(NM_000548.3):c.5200dupG (p.D1734Gfs*41)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088266dup" "" "pathogenic" "" "0000557302" "0" "90" "16" "2138271" "2138274" "dup" "0" "01943" "TSC2_002327" "g.2138271_2138274dup" "" "" "" "TSC2(NM_000548.3):c.5204_5207dupTCTA (p.P1737Lfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088270_2088273dup" "" "pathogenic" "" "0000557303" "0" "90" "16" "2138291" "2138308" "del" "0" "01943" "TSC2_002313" "g.2138291_2138308del" "" "" "" "TSC2(NM_000548.3):c.5224_5241delGCCCGGCTCCGCCACATC (p.A1742_I1747del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088290_2088307del" "" "pathogenic" "" "0000557304" "0" "90" "16" "2138295" "2138295" "subst" "0" "02325" "TSC2_000096" "g.2138295G>A" "" "" "" "TSC2(NM_000548.3):c.5228G>A (p.R1743Q), TSC2(NM_001114382.3):c.5159G>A (p.R1720Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088294G>A" "" "pathogenic" "" "0000557305" "0" "90" "16" "2138295" "2138295" "subst" "0" "02327" "TSC2_000234" "g.2138295G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088294G>C" "" "pathogenic" "" "0000557306" "0" "30" "16" "2138324" "2138324" "subst" "8.16093E-6" "01943" "TSC2_001487" "g.2138324C>A" "" "" "" "TSC2(NM_001114382.2):c.5188C>A (p.R1730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088323C>A" "" "likely benign" "" "0000557307" "0" "10" "16" "2138432" "2138432" "subst" "0.00153203" "01943" "TSC2_000338" "g.2138432C>T" "" "" "" "PKD1(NM_001009944.3):c.*1296G>A, TSC2(NM_000548.3):c.5260-15C>T, TSC2(NM_000548.5):c.5260-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088431C>T" "" "benign" "" "0000557308" "0" "30" "16" "2138432" "2138432" "subst" "0.00153203" "02329" "TSC2_000338" "g.2138432C>T" "" "" "" "PKD1(NM_001009944.3):c.*1296G>A, TSC2(NM_000548.3):c.5260-15C>T, TSC2(NM_000548.5):c.5260-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088431C>T" "" "likely benign" "" "0000557309" "0" "30" "16" "2138448" "2138448" "subst" "4.07209E-6" "02330" "TSC2_001488" "g.2138448T>G" "" "" "" "TSC2(NM_000548.5):c.5261T>G (p.I1754S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088447T>G" "" "likely benign" "" "0000557310" "0" "90" "16" "2138456" "2138457" "dup" "0" "01943" "TSC2_002321" "g.2138456_2138457dup" "" "" "" "TSC2(NM_000548.3):c.5269_5270dupGA (p.A1758Kfs*69)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088455_2088456dup" "" "pathogenic" "" "0000557311" "0" "90" "16" "2138468" "2138469" "dup" "0" "01943" "TSC2_003587" "g.2138468_2138469dup" "" "" "" "TSC2(NM_000548.3):c.5281_5282dupTC (p.N1762Pfs*65)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088467_2088468dup" "" "pathogenic" "" "0000557312" "0" "30" "16" "2138546" "2138546" "subst" "0.0022029" "01804" "TSC2_000301" "g.2138546G>A" "" "" "" "PKD1(NM_001009944.3):c.*1182C>T, TSC2(NM_000548.3):c.5359G>A (p.G1787S, p.(Gly1787Ser)), TSC2(NM_000548.5):c.5359G>A (p.G1787S), TSC2(NM_001114382...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088545G>A" "" "likely benign" "" "0000557313" "0" "30" "16" "2138570" "2138570" "subst" "0.00148943" "02330" "TSC2_000666" "g.2138570C>T" "" "" "" "TSC2(NM_000548.3):c.5383C>T (p.R1795C, p.(Arg1795Cys)), TSC2(NM_000548.5):c.5383C>T (p.R1795C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088569C>T" "" "likely benign" "" "0000557314" "0" "50" "16" "2138570" "2138570" "subst" "0.00148943" "01804" "TSC2_000666" "g.2138570C>T" "" "" "" "TSC2(NM_000548.3):c.5383C>T (p.R1795C, p.(Arg1795Cys)), TSC2(NM_000548.5):c.5383C>T (p.R1795C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088569C>T" "" "VUS" "" "0000557315" "0" "90" "16" "2138589" "2138598" "dup" "0" "01943" "TSC2_003638" "g.2138589_2138598dup" "" "" "" "TSC2(NM_000548.3):c.5402_5411dupAGGACTTCAC (p.E1805Gfs*?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088588_2088597dup" "" "pathogenic" "" "0000557316" "0" "30" "16" "2139849" "2139849" "subst" "1.76197E-5" "01804" "PKD1_002902" "g.2139849G>A" "" "" "" "PKD1(NM_000296.3):c.12788C>T (p.(Pro4263Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2089848G>A" "" "likely benign" "" "0000557317" "0" "10" "16" "2139976" "2139976" "subst" "0.00229081" "02326" "PKD1_002900" "g.2139976G>A" "" "" "" "PKD1(NM_000296.3):c.12661C>T (p.(Leu4221=)), PKD1(NM_001009944.2):c.12664C>T (p.L4222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2089975G>A" "" "benign" "" "0000557318" "0" "30" "16" "2140294" "2140294" "subst" "0.0045433" "01804" "PKD1_000530" "g.2140294C>T" "" "" "" "PKD1(NM_000296.3):c.12433G>A (p.(Val4145Ile)), PKD1(NM_000296.4):c.12433G>A (p.V4145I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2090293C>T" "" "likely benign" "" "0000557320" "0" "30" "16" "2140596" "2140596" "subst" "0.000565692" "01804" "PKD1_002896" "g.2140596G>A" "" "" "" "PKD1(NM_000296.3):c.12136-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2090595G>A" "" "likely benign" "" "0000557321" "0" "90" "16" "2140782" "2140782" "subst" "0" "02327" "PKD1_000044" "g.2140782G>A" "" "" "" "PKD1(NM_001009944.2):c.12031C>T (p.(Gln4011Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2090781G>A" "" "pathogenic" "" "0000557323" "0" "90" "16" "2140953" "2140953" "subst" "0" "02327" "PKD1_000464" "g.2140953G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2090952G>A" "" "pathogenic" "" "0000557324" "0" "10" "16" "2140972" "2140972" "subst" "0.0202177" "01804" "PKD1_000765" "g.2140972G>A" "" "" "" "PKD1(NM_000296.3):c.11913C>T (p.(Arg3971=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2090971G>A" "" "benign" "" "0000557325" "0" "10" "16" "2141229" "2141262" "dup" "0" "02326" "PKD1_002889" "g.2141229_2141262dup" "" "" "" "PKD1(NM_001009944.2):c.11713-30_11713-29ins34" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2091228_2091261dup" "" "benign" "" "0000557327" "0" "30" "16" "2141461" "2141461" "subst" "0" "01804" "PKD1_002888" "g.2141461C>T" "" "" "" "PKD1(NM_000296.3):c.11672G>A (p.(Arg3891His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2091460C>T" "" "likely benign" "" "0000557328" "0" "50" "16" "2141461" "2141461" "subst" "0" "02327" "PKD1_002888" "g.2141461C>T" "" "" "" "PKD1(NM_000296.3):c.11672G>A (p.(Arg3891His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2091460C>T" "" "VUS" "" "0000557330" "0" "10" "16" "2141777" "2141779" "dup" "0" "02326" "PKD1_000081" "g.2141777_2141779dup" "" "" "" "PKD1(NM_000296.3):c.11534+3_11534+5dup (p.?), PKD1(NM_001009944.2):c.11537+5_11537+6insGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2091776_2091778dup" "" "benign" "" "0000557331" "0" "30" "16" "2141777" "2141779" "dup" "0" "01804" "PKD1_000081" "g.2141777_2141779dup" "" "" "" "PKD1(NM_000296.3):c.11534+3_11534+5dup (p.?), PKD1(NM_001009944.2):c.11537+5_11537+6insGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2091776_2091778dup" "" "likely benign" "" "0000557332" "0" "30" "16" "2141913" "2141913" "subst" "0.000497664" "01804" "NTHL1_000182" "g.2141913G>A" "" "" "" "PKD1(NM_000296.3):c.11409-6C>T (p.(=)), PKD1(NM_001009944.2):c.11412-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2091912G>A" "" "likely benign" "" "0000557333" "0" "30" "16" "2142083" "2142083" "subst" "0.00445305" "01943" "PKD1_002883" "g.2142083C>G" "" "" "" "PKD1(NM_001009944.2):c.11376G>C (p.S3792=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2092082C>G" "" "likely benign" "" "0000557334" "0" "30" "16" "2142103" "2142103" "subst" "0.000530149" "01804" "PKD1_002882" "g.2142103C>G" "" "" "" "PKD1(NM_000296.3):c.11353G>C (p.(Glu3785Gln)), PKD1(NM_001009944.2):c.11356G>C (p.E3786Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2092102C>G" "" "likely benign" "" "0000557335" "0" "30" "16" "2142113" "2142113" "subst" "0.00470186" "01804" "PKD1_000815" "g.2142113G>A" "" "" "" "PKD1(NM_000296.3):c.11343C>T (p.(Asp3781=)), PKD1(NM_000296.4):c.11343C>T (p.D3781=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2092112G>A" "" "likely benign" "" "0000557337" "0" "90" "16" "2142146" "2142146" "del" "0" "02327" "PKD1_002881" "g.2142146del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2092145del" "" "pathogenic" "" "0000557338" "0" "50" "16" "2142501" "2142501" "subst" "4.11238E-6" "02327" "PKD1_000466" "g.2142501C>T" "" "" "" "PKD1(NM_000296.3):c.11246G>A (p.(Arg3749Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2092500C>T" "" "VUS" "" "0000557339" "0" "30" "16" "2143097" "2143097" "subst" "0.00107037" "01804" "NTHL1_000187" "g.2143097G>A" "" "" "" "PKD1(NM_000296.3):c.11014-3C>T (p.?), PKD1(NM_001009944.2):c.11017-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2093096G>A" "" "likely benign" "" "0000557340" "0" "50" "16" "2143547" "2143547" "subst" "0" "01943" "PKD1_002878" "g.2143547G>A" "" "" "" "PKD1(NM_001009944.2):c.11014C>T (p.R3672W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2093546G>A" "" "VUS" "" "0000615822" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "01943" "NTHL1_000001" "g.2096239G>A" "" "" "" "NTHL1(NM_001318193.1):c.268C>T (p.(Gln90Ter)), NTHL1(NM_002528.7):c.244C>T (p.Q82*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2046238G>A" "" "pathogenic" "" "0000615824" "0" "50" "16" "2103398" "2103398" "subst" "0" "01943" "TSC2_001450" "g.2103398C>T" "" "" "" "TSC2(NM_001114382.2):c.281C>T (p.P94L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2053397C>T" "" "VUS" "" "0000615825" "0" "30" "16" "2103467" "2103467" "subst" "0" "02330" "TSC2_001452" "g.2103467C>T" "" "" "" "TSC2(NM_000548.5):c.336+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2053466C>T" "" "likely benign" "" "0000615827" "0" "30" "16" "2121637" "2121637" "subst" "0.000213151" "02330" "TSC2_002512" "g.2121637C>T" "" "" "" "TSC2(NM_000548.5):c.1946+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071636C>T" "" "likely benign" "" "0000615828" "0" "10" "16" "2121911" "2121911" "subst" "0.000938692" "02330" "TSC2_000435" "g.2121911C>T" "" "" "" "TSC2(NM_000548.3):c.2073C>T (p.R691=), TSC2(NM_000548.5):c.2073C>T (p.R691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071910C>T" "" "benign" "" "0000615829" "0" "30" "16" "2129102" "2129102" "subst" "0.000130161" "02330" "TSC2_001209" "g.2129102C>T" "" "" "" "TSC2(NM_000548.3):c.3036C>T (p.D1012=), TSC2(NM_000548.5):c.3036C>T (p.D1012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079101C>T" "" "likely benign" "" "0000615830" "0" "30" "16" "2129539" "2129539" "subst" "4.77418E-5" "02330" "TSC2_000761" "g.2129539C>T" "" "" "" "TSC2(NM_000548.5):c.3285-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079538C>T" "" "likely benign" "" "0000615831" "0" "30" "16" "2134492" "2134492" "subst" "0.00269103" "02327" "TSC2_000570" "g.2134492G>A" "" "" "" "TSC2(NM_000548.3):c.4269G>A (p.L1423=, p.(Leu1423=)), TSC2(NM_000548.5):c.4269G>A (p.L1423=), TSC2(NM_001370404.1):c.4137G>A (p.L1379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084491G>A" "" "likely benign" "" "0000615832" "0" "30" "16" "2134657" "2134657" "subst" "2.56051E-5" "02330" "TSC2_001482" "g.2134657C>T" "" "" "" "TSC2(NM_000548.5):c.4434C>T (p.D1478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084656C>T" "" "likely benign" "" "0000615833" "0" "30" "16" "2134723" "2134723" "subst" "0.000180369" "01943" "TSC2_002894" "g.2134723C>A" "" "" "" "TSC2(NM_000548.3):c.4493+7C>A, TSC2(NM_000548.5):c.4493+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084722C>A" "" "likely benign" "" "0000615834" "0" "90" "16" "2136373" "2136375" "del" "0" "02325" "TSC2_000118" "g.2136373_2136375del" "" "" "" "TSC2(NM_000548.3):c.4842_4844delCAT (p.I1614del), TSC2(NM_001114382.3):c.4773_4775delCAT (p.I1591del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086372_2086374del" "" "pathogenic" "" "0000615835" "0" "30" "16" "2136809" "2136809" "subst" "4.11997E-6" "01943" "TSC2_001484" "g.2136809C>T" "" "" "" "TSC2(NM_001114382.2):c.4857C>T (p.G1619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086808C>T" "" "likely benign" "" "0000615836" "0" "30" "16" "2136839" "2136839" "subst" "0" "01943" "TSC2_001485" "g.2136839C>T" "" "" "" "TSC2(NM_000548.3):c.4956C>T (p.D1652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086838C>T" "" "likely benign" "" "0000615837" "0" "30" "16" "2140477" "2140477" "subst" "0.000362854" "01943" "PKD1_002898" "g.2140477G>A" "" "" "" "PKD1(NM_001009944.2):c.12253C>T (p.L4085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2090476G>A" "" "likely benign" "" "0000615838" "0" "50" "16" "2140811" "2140812" "dup" "0" "01943" "PKD1_002893" "g.2140811_2140812dup" "" "" "" "PKD1(NM_001009944.2):c.12004-2_12004-1insCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2090810_2090811dup" "" "VUS" "" "0000615839" "0" "10" "16" "2141454" "2141454" "subst" "0.017369" "01804" "PKD1_000766" "g.2141454G>A" "" "" "" "PKD1(NM_000296.3):c.11679C>T (p.(Ser3893=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2091453G>A" "" "benign" "" "0000615840" "0" "50" "16" "2143577" "2143577" "subst" "2.57314E-5" "01943" "PKD1_002877" "g.2143577G>A" "" "" "" "PKD1(NM_001009944.2):c.10984C>T (p.R3662C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2093576G>A" "" "VUS" "" "0000615841" "0" "50" "16" "2143621" "2143621" "subst" "0" "01943" "PKD1_002876" "g.2143621C>T" "" "" "" "PKD1(NM_001009944.2):c.10940G>A (p.R3647Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2093620C>T" "" "VUS" "" "0000615842" "0" "30" "16" "2143622" "2143622" "subst" "0.000207657" "01804" "PKD1_002875" "g.2143622G>A" "" "" "" "PKD1(NM_000296.3):c.10936C>T (p.(Arg3646Trp)), PKD1(NM_001009944.2):c.10939C>T (p.R3647W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2093621G>A" "" "likely benign" "" "0000623394" "0" "30" "16" "2093670" "2093670" "subst" "1.63451E-5" "02330" "NTHL1_000189" "g.2093670C>T" "" "" "" "NTHL1(NM_002528.7):c.583G>A (p.D195N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2043669C>T" "" "likely benign" "" "0000623395" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "02329" "NTHL1_000001" "g.2096239G>A" "" "" "" "NTHL1(NM_001318193.1):c.268C>T (p.(Gln90Ter)), NTHL1(NM_002528.7):c.244C>T (p.Q82*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2046238G>A" "" "pathogenic" "" "0000623398" "0" "30" "16" "2110790" "2110790" "subst" "1.62692E-5" "02330" "TSC2_003286" "g.2110790C>T" "" "" "" "TSC2(NM_001370404.1):c.1095C>T (p.I365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2060789C>T" "" "likely benign" "" "0000623399" "0" "10" "16" "2112989" "2112989" "subst" "0.00121899" "02329" "TSC2_001096" "g.2112989G>A" "" "" "" "TSC2(NM_000548.3):c.1378G>A (p.A460T), TSC2(NM_000548.5):c.1378G>A (p.A460T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062988G>A" "" "benign" "" "0000623400" "0" "30" "16" "2114422" "2114422" "subst" "0.00101201" "02329" "TSC2_000222" "g.2114422C>T" "" "" "" "TSC2(NM_000548.3):c.1593C>T (p.I531=), TSC2(NM_000548.5):c.1593C>T (p.I531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2064421C>T" "" "likely benign" "" "0000623401" "0" "30" "16" "2120559" "2120559" "subst" "0.000651238" "02325" "TSC2_000008" "g.2120559G>A" "" "" "" "TSC2(NM_000548.3):c.1819G>A (p.A607T), TSC2(NM_000548.5):c.1819G>A (p.A607T), TSC2(NM_001114382.2):c.1819G>A (p.A607T), TSC2(NM_001114382.3):c.1819..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070558G>A" "" "likely benign" "" "0000623402" "0" "30" "16" "2125839" "2125839" "subst" "4.06868E-5" "02330" "TSC2_000675" "g.2125839C>T" "" "" "" "TSC2(NM_000548.5):c.2585C>T (p.A862V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2075838C>T" "" "likely benign" "" "0000623403" "0" "50" "16" "2126489" "2126489" "subst" "0.000268402" "01943" "TSC2_000480" "g.2126489C>A" "" "" "" "TSC2(NM_000548.3):c.2743-3C>A, TSC2(NM_000548.5):c.2743-3C>A, TSC2(NM_001114382.2):c.2743-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2076488C>A" "" "VUS" "" "0000623405" "0" "30" "16" "2134301" "2134301" "subst" "2.46607E-5" "02330" "TSC2_001479" "g.2134301G>A" "" "" "" "TSC2(NM_000548.5):c.4078G>A (p.E1360K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084300G>A" "" "likely benign" "" "0000649261" "1" "50" "16" "2096209" "2096209" "subst" "0.000934762" "03575" "NTHL1_000006" "g.2096209G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs148104494}" "Germline" "" "rs148104494" "0" "" "" "g.2046208G>A" "" "VUS" "" "0000657767" "0" "30" "16" "2094722" "2094722" "subst" "2.48363E-5" "02330" "NTHL1_000208" "g.2094722C>T" "" "" "" "NTHL1(NM_002528.7):c.434G>A (p.R145Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2044721C>T" "" "likely benign" "" "0000657769" "0" "10" "16" "2098091" "2098111" "del" "0" "01943" "TSC2_003385" "g.2098091_2098111del" "" "" "" "TSC2(NM_000548.3):c.-30+3_-30+23del (p.(=)), TSC2(NM_001114382.2):c.-30+25_-30+45delAGTGGCGGTCCCCACGGGGCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048090_2048110del" "" "benign" "" "0000657770" "0" "10" "16" "2103389" "2103389" "subst" "0.000903667" "02330" "TSC2_000346" "g.2103389C>T" "" "" "" "TSC2(NM_000548.3):c.272C>T (p.P91L), TSC2(NM_000548.5):c.272C>T (p.P91L), TSC2(NM_001370404.1):c.272C>T (p.P91L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2053388C>T" "" "benign" "" "0000657771" "0" "50" "16" "2108820" "2108820" "subst" "0" "02325" "TSC2_001299" "g.2108820C>G" "" "" "" "TSC2(NM_001114382.3):c.921C>G (p.H307Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058819C>G" "" "VUS" "" "0000657772" "0" "30" "16" "2110765" "2110765" "subst" "0.000446936" "02330" "TSC2_002016" "g.2110765C>T" "" "" "" "TSC2(NM_000548.3):c.1070C>T (p.A357V, p.(Ala357Val)), TSC2(NM_000548.5):c.1070C>T (p.A357V), TSC2(NM_001114382.2):c.1070C>T (p.A357V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2060764C>T" "" "likely benign" "" "0000657773" "0" "30" "16" "2112558" "2112558" "subst" "0.000718652" "02329" "TSC2_000167" "g.2112558G>A" "" "" "" "TSC2(NM_000548.3):c.1318G>A (p.G440S, p.(Gly440Ser)), TSC2(NM_000548.5):c.1318G>A (p.G440S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062557G>A" "" "likely benign" "" "0000657774" "0" "30" "16" "2112580" "2112580" "subst" "5.0293E-5" "02330" "TSC2_000394" "g.2112580C>T" "" "" "" "TSC2(NM_000548.3):c.1340C>T (p.A447V), TSC2(NM_000548.5):c.1340C>T (p.A447V), TSC2(NM_001114382.2):c.1340C>T (p.A447V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062579C>T" "" "likely benign" "" "0000657775" "0" "50" "16" "2126088" "2126088" "subst" "0" "02327" "TSC2_001491" "g.2126088T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076087T>C" "" "VUS" "" "0000657776" "0" "30" "16" "2129096" "2129096" "subst" "3.66068E-5" "02330" "TSC2_003163" "g.2129096G>A" "" "" "" "TSC2(NM_000548.5):c.3030G>A (p.Q1010=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079095G>A" "" "likely benign" "" "0000657777" "0" "10" "16" "2130243" "2130243" "subst" "0.000383095" "02330" "TSC2_000762" "g.2130243C>T" "" "" "" "TSC2(NM_000548.5):c.3475C>T (p.R1159W), TSC2(NM_001114382.2):c.3475C>T (p.R1159W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2080242C>T" "" "benign" "" "0000657778" "0" "50" "16" "2131648" "2131648" "subst" "8.14034E-6" "02325" "TSC2_001016" "g.2131648G>A" "" "" "" "TSC2(NM_001114382.3):c.3663G>A (p.S1221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081647G>A" "" "VUS" "" "0000657779" "0" "30" "16" "2137951" "2137951" "subst" "0.000138637" "02330" "TSC2_000638" "g.2137951G>A" "" "" "" "TSC2(NM_000548.3):c.5068+9G>A, TSC2(NM_000548.5):c.5068+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2087950G>A" "" "likely benign" "" "0000657780" "0" "30" "16" "2138224" "2138224" "subst" "3.25267E-5" "02330" "TSC2_000656" "g.2138224C>G" "" "" "" "TSC2(NM_000548.5):c.5161-4C>G, TSC2(NM_001114382.2):c.5092-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088223C>G" "" "likely benign" "" "0000657781" "0" "30" "16" "2138335" "2138335" "subst" "2.85486E-5" "01943" "TSC2_001490" "g.2138335T>C" "" "" "" "TSC2(NM_000548.3):c.5259+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088334T>C" "" "likely benign" "" "0000657782" "0" "30" "16" "2141609" "2141609" "subst" "0.00151542" "02326" "PKD1_002886" "g.2141609G>A" "" "" "" "PKD1(NM_000296.3):c.11535-11C>T (p.(=)), PKD1(NM_001009944.2):c.11538-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2091608G>A" "" "likely benign" "" "0000660283" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "01164" "NTHL1_000001" "g.2096239G>A" "" "" "" "" "no second variant detected in NTHL1; Weren et al. 2015. Nat Genet 47: 668; Rivera et al. 2015. N Engl J Med 373: 1985" "Germline" "" "rs150766139" "0" "" "" "g.2046238G>A" "" "pathogenic" "" "0000664841" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "01164" "NTHL1_000001" "g.2096239G>A" "" "" "" "" "ACMG grading: PVS1,PM2,PP5; pancreas-ca at age 52y, mother and brother pancreatic ca; grandfather (ms) stomach-cancer; Song et al. 2015. J Clin Oncol 33: 2901; Jønson et al. 2016. Breast Cancer Res Treat 155: 215" "Germline" "" "rs150766139" "0" "" "" "g.2046238G>A" "" "pathogenic" "ACMG" "0000680440" "0" "30" "16" "2096333" "2096333" "subst" "1.63137E-5" "02330" "NTHL1_000213" "g.2096333C>T" "" "" "" "NTHL1(NM_002528.7):c.150G>A (p.P50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680442" "0" "10" "16" "2103408" "2103408" "subst" "0.000593427" "02330" "TSC2_001304" "g.2103408C>G" "" "" "" "TSC2(NM_000548.5):c.291C>G (p.A97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000680443" "0" "30" "16" "2105407" "2105407" "subst" "4.06072E-6" "02330" "TSC2_000078" "g.2105407C>T" "" "" "" "TSC2(NM_001370404.1):c.486C>T (p.D162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680444" "0" "30" "16" "2106716" "2106716" "subst" "2.85598E-5" "02330" "TSC2_000305" "g.2106716C>T" "" "" "" "TSC2(NM_001370404.1):c.720C>T (p.I240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680445" "0" "30" "16" "2124272" "2124272" "subst" "0.000183152" "02326" "TSC2_002207" "g.2124272C>T" "" "" "" "TSC2(NM_000548.3):c.2427C>T (p.S809=), TSC2(NM_000548.5):c.2427C>T (p.S809=, p.(Ser809=)), TSC2(NM_001114382.2):c.2427C>T (p.S809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680446" "0" "50" "16" "2129604" "2129604" "subst" "0" "01943" "TSC2_004441" "g.2129604A>C" "" "" "" "TSC2(NM_001114382.2):c.3331A>C (p.K1111Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680447" "0" "30" "16" "2134546" "2134546" "subst" "8.44973E-6" "01943" "TSC2_004440" "g.2134546C>T" "" "" "" "TSC2(NM_001114382.2):c.4254C>T (p.P1418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680448" "0" "30" "16" "2134723" "2134723" "subst" "0.000180369" "02330" "TSC2_002894" "g.2134723C>A" "" "" "" "TSC2(NM_000548.3):c.4493+7C>A, TSC2(NM_000548.5):c.4493+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680449" "0" "30" "16" "2134735" "2134735" "subst" "4.30233E-6" "02330" "TSC2_004438" "g.2134735G>A" "" "" "" "TSC2(NM_001077183.3):c.4292+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680450" "0" "30" "16" "2136214" "2136214" "subst" "9.3723E-5" "01943" "TSC2_002390" "g.2136214C>T" "" "" "" "TSC2(NM_001114382.2):c.4614C>T (p.I1538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680451" "0" "50" "16" "2138058" "2138058" "subst" "0" "01943" "TSC2_004434" "g.2138058G>A" "" "" "" "TSC2(NM_001114382.2):c.5009G>A (p.G1670D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680452" "0" "30" "16" "2138533" "2138533" "subst" "4.89736E-5" "01943" "TSC2_004201" "g.2138533C>T" "" "" "" "PKD1(NM_001009944.3):c.*1195G>A, TSC2(NM_000548.5):c.5346C>T (p.A1782=), TSC2(NM_001114382.2):c.5277C>T (p.A1759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680453" "0" "50" "16" "2138596" "2138596" "subst" "0" "02327" "PKD1_002905" "g.2138596C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680454" "0" "50" "16" "2139748" "2139748" "subst" "0" "02325" "PKD1_002903" "g.2139748C>A" "" "" "" "PKD1(NM_001009944.3):c.12892G>T (p.V4298F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680455" "0" "30" "16" "2139814" "2139814" "subst" "0.00377645" "02326" "PKD1_000046" "g.2139814G>A" "" "" "" "PKD1(NM_000296.3):c.12823C>T (p.(Arg4275Trp)), PKD1(NM_001009944.2):c.12826C>T (p.R4276W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680456" "0" "70" "16" "2139931" "2139931" "subst" "0" "01804" "PKD1_002901" "g.2139931A>C" "" "" "" "PKD1(NM_000296.3):c.12706T>G (p.(Tyr4236Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000680457" "0" "90" "16" "2140757" "2140757" "subst" "0" "02326" "PKD1_002895" "g.2140757A>T" "" "" "" "PKD1(NM_001009944.2):c.12056T>A (p.L4019*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680458" "0" "90" "16" "2141004" "2141004" "subst" "0" "02326" "PKD1_000566" "g.2141004G>A" "" "" "" "PKD1(NM_001009944.2):c.11884C>T (p.Q3962*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680459" "0" "30" "16" "2141913" "2141913" "subst" "0.000497664" "01943" "PKD1_002885" "g.2141913G>A" "" "" "" "PKD1(NM_000296.3):c.11409-6C>T (p.(=)), PKD1(NM_001009944.2):c.11412-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680460" "0" "30" "16" "2143099" "2143099" "subst" "0" "01943" "PKD1_002879" "g.2143099T>C" "" "" "" "PKD1(NM_001009944.2):c.11017-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691967" "0" "50" "16" "2090008" "2090008" "subst" "2.47095E-5" "01943" "NTHL1_000014" "g.2090008C>T" "" "" "" "NTHL1(NM_002528.7):c.832G>A (p.G278S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691969" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "02325" "NTHL1_000001" "g.2096239G>A" "" "" "" "NTHL1(NM_001318193.1):c.268C>T (p.(Gln90Ter)), NTHL1(NM_002528.7):c.244C>T (p.Q82*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691971" "0" "30" "16" "2106722" "2106722" "subst" "0.000118428" "02325" "TSC2_004446" "g.2106722C>T" "" "" "" "TSC2(NM_000548.5):c.726C>T (p.T242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691973" "0" "50" "16" "2126163" "2126163" "subst" "8.13749E-6" "02327" "TSC2_004430" "g.2126163A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000691974" "0" "30" "16" "2126489" "2126489" "subst" "0.000268402" "02325" "TSC2_000480" "g.2126489C>A" "" "" "" "TSC2(NM_000548.3):c.2743-3C>A, TSC2(NM_000548.5):c.2743-3C>A, TSC2(NM_001114382.2):c.2743-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691975" "0" "30" "16" "2129123" "2129123" "subst" "0" "01943" "TSC2_004442" "g.2129123C>T" "" "" "" "TSC2(NM_001114382.2):c.3057C>T (p.H1019=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691976" "0" "50" "16" "2135008" "2135008" "subst" "0" "02325" "TSC2_004437" "g.2135008C>G" "" "" "" "TSC2(NM_000548.5):c.4550C>G (p.P1517R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691977" "0" "30" "16" "2138075" "2138075" "subst" "2.0352E-5" "02330" "TSC2_004433" "g.2138075G>A" "" "" "" "TSC2(NM_000548.5):c.5095G>A (p.V1699M, p.(Val1699Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691978" "0" "30" "16" "2143097" "2143097" "subst" "0.00107037" "02326" "PKD1_002880" "g.2143097G>A" "" "" "" "PKD1(NM_000296.3):c.11014-3C>T (p.?), PKD1(NM_001009944.2):c.11017-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698049" "0" "70" "16" "2097709" "2097709" "subst" "0" "03824" "NTHL1_000230" "g.2097709C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000698050" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "03824" "NTHL1_000001" "g.2096239G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000698071" "3" "70" "16" "2097709" "2097709" "subst" "0" "03824" "NTHL1_000230" "g.2097709C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000698076" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "03824" "NTHL1_000001" "g.2096239G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000698080" "0" "70" "16" "2093728" "2093728" "subst" "8.60472E-5" "03824" "NTHL1_000228" "g.2093728C>T" "" "" "" "" "Patient with two pathogenic or probably pathogenic NTHL1 variants (compound heterozygous)\r\nHis childs carrying only one of the two variants" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000698081" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "03824" "NTHL1_000001" "g.2096239G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000698082" "0" "70" "16" "2093728" "2093728" "subst" "8.60472E-5" "03824" "NTHL1_000228" "g.2093728C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000698083" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "03824" "NTHL1_000001" "g.2096239G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000698084" "0" "70" "16" "2093728" "2093728" "subst" "8.60472E-5" "03824" "NTHL1_000228" "g.2093728C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000698087" "3" "90" "16" "2096239" "2096239" "subst" "0.00142689" "03824" "NTHL1_000001" "g.2096239G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000698088" "3" "90" "16" "2096239" "2096239" "subst" "0.00142689" "03824" "NTHL1_000001" "g.2096239G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000698089" "3" "90" "16" "2096239" "2096239" "subst" "0.00142689" "03824" "NTHL1_000001" "g.2096239G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000698090" "3" "70" "16" "2093728" "2093728" "subst" "8.60472E-5" "03824" "NTHL1_000228" "g.2093728C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000698091" "3" "90" "16" "2096239" "2096239" "subst" "0.00142689" "03824" "NTHL1_000001" "g.2096239G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000698092" "3" "50" "16" "2094653" "2094653" "subst" "0.00195319" "03824" "NTHL1_000012" "g.2094653A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000698093" "0" "50" "16" "2097712" "2097712" "subst" "0.000763196" "03824" "NTHL1_000231" "g.2097712G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000698094" "0" "50" "16" "2094653" "2094653" "subst" "0.00195319" "03824" "NTHL1_000012" "g.2094653A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000698095" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "03824" "NTHL1_000001" "g.2096239G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000698096" "0" "50" "16" "2096134" "2096134" "subst" "6.92758E-5" "03824" "NTHL1_000229" "g.2096134G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000698097" "3" "50" "16" "2094653" "2094653" "subst" "0.00195319" "03824" "NTHL1_000012" "g.2094653A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000725516" "0" "30" "16" "2093737" "2093738" "del" "0.000172461" "01943" "NTHL1_000232" "g.2093737_2093738del" "" "" "" "NTHL1(NM_002528.7):c.526-11_526-10delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725518" "0" "50" "16" "2103392" "2103392" "subst" "0.00100189" "01804" "TSC2_000963" "g.2103392A>T" "" "" "" "TSC2(NM_000548.3):c.275A>T (p.(Glu92Val), p.E92V), TSC2(NM_000548.5):c.275A>T (p.E92V), TSC2(NM_001114382.2):c.275A>T (p.E92V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725520" "0" "10" "16" "2137857" "2137857" "subst" "0.00229678" "02330" "TSC2_000629" "g.2137857C>T" "" "" "" "TSC2(NM_000548.3):c.4990-7C>T (p.(=)), TSC2(NM_001114382.2):c.4921-7C>T, TSC2(NM_001370404.1):c.4858-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725521" "0" "10" "16" "2137899" "2137899" "subst" "0.00103952" "02330" "TSC2_000630" "g.2137899G>A" "" "" "" "TSC2(NM_000548.3):c.5025G>A (p.P1675=), TSC2(NM_000548.5):c.5025G>A (p.P1675=), TSC2(NM_001370404.1):c.4893G>A (p.P1631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725522" "0" "30" "16" "2138041" "2138041" "subst" "2.44316E-5" "01943" "TSC2_004435" "g.2138041C>T" "" "" "" "TSC2(NM_001114382.2):c.5000-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725523" "0" "30" "16" "2138224" "2138224" "subst" "3.25267E-5" "01943" "TSC2_000656" "g.2138224C>G" "" "" "" "TSC2(NM_000548.5):c.5161-4C>G, TSC2(NM_001114382.2):c.5092-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725524" "0" "50" "16" "2138565" "2138565" "subst" "0.000144009" "01943" "TSC2_000792" "g.2138565G>A" "" "" "" "TSC2(NM_001114382.2):c.5309G>A (p.R1770Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725525" "0" "30" "16" "2139694" "2139694" "subst" "1.98002E-5" "02327" "PKD1_002904" "g.2139694C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725526" "0" "10" "16" "2139713" "2139713" "subst" "0.0145591" "02327" "PKD1_000932" "g.2139713C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725527" "0" "10" "16" "2139871" "2139871" "subst" "0.000505889" "02327" "PKD1_001197" "g.2139871C>T" "" "" "" "PKD1(NM_001009944.2):c.12769G>A (p.G4257R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725528" "0" "10" "16" "2140010" "2140010" "subst" "0.187805" "02327" "PKD1_000778" "g.2140010A>G" "" "" "" "PKD1(NM_001009944.2):c.12630T>C (p.P4210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725529" "0" "10" "16" "2140321" "2140321" "subst" "0.0666581" "02327" "PKD1_000779" "g.2140321G>A" "" "" "" "PKD1(NM_000296.4):c.12406C>T (p.L4136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725530" "0" "10" "16" "2140454" "2140454" "subst" "0.186045" "02327" "PKD1_000780" "g.2140454T>C" "" "" "" "PKD1(NM_001009944.3):c.12276A>G (p.A4092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725531" "0" "30" "16" "2140460" "2140460" "subst" "0.000486535" "02327" "PKD1_001271" "g.2140460G>C" "" "" "" "PKD1(NM_000296.3):c.12267C>G (p.(Leu4089=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725532" "0" "30" "16" "2140535" "2140535" "subst" "5.91796E-5" "01943" "PKD1_002897" "g.2140535C>T" "" "" "" "PKD1(NM_001009944.2):c.12195G>A (p.L4065=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725533" "0" "10" "16" "2140554" "2140554" "subst" "0.0655624" "02327" "PKD1_000782" "g.2140554G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725534" "0" "10" "16" "2140680" "2140680" "subst" "0.181408" "02327" "PKD1_000764" "g.2140680T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725535" "0" "50" "16" "2140780" "2140780" "subst" "0" "02325" "PKD1_002894" "g.2140780C>G" "" "" "" "PKD1(NM_001009944.3):c.12033G>C (p.Q4011H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725536" "0" "50" "16" "2140794" "2140794" "subst" "1.66142E-5" "01943" "PKD1_001315" "g.2140794G>A" "" "" "" "PKD1(NM_001009944.2):c.12019C>T (p.R4007C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725537" "0" "90" "16" "2140803" "2140803" "subst" "4.16063E-6" "02326" "PKD1_000269" "g.2140803G>A" "" "" "" "PKD1(NM_001009944.2):c.12010C>T (p.Q4004*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725538" "0" "90" "16" "2140910" "2140910" "subst" "0" "02327" "PKD1_002892" "g.2140910G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725539" "0" "30" "16" "2141171" "2141171" "subst" "0.00106505" "01943" "PKD1_000812" "g.2141171C>A" "" "" "" "PKD1(NM_000296.3):c.11714G>T (p.(Cys3905Phe)), PKD1(NM_001009944.2):c.11717G>T (p.C3906F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725540" "0" "30" "16" "2141927" "2141927" "subst" "0" "02327" "PKD1_002884" "g.2141927T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725541" "0" "10" "16" "2142488" "2142488" "subst" "0.00494176" "02326" "PKD1_001438" "g.2142488C>G" "" "" "" "PKD1(NM_000296.3):c.11259G>C (p.(Leu3753=)), PKD1(NM_001009944.2):c.11262G>C (p.L3754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725542" "0" "10" "16" "2142942" "2142942" "subst" "0.0107386" "02327" "PKD1_001455" "g.2142942C>T" "" "" "" "PKD1(NM_000296.3):c.11153+13G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725543" "0" "90" "16" "2142955" "2142955" "subst" "0" "02327" "PKD1_000107" "g.2142955C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725544" "0" "50" "16" "2143097" "2143097" "subst" "0.00107037" "01943" "PKD1_002880" "g.2143097G>A" "" "" "" "PKD1(NM_000296.3):c.11014-3C>T (p.?), PKD1(NM_001009944.2):c.11017-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725545" "0" "50" "16" "2143546" "2143546" "subst" "0.000429801" "01943" "PKD1_000594" "g.2143546C>T" "" "" "" "LOC105371049(NR_135175.1):n.303+533C>T, PKD1(NM_000296.3):c.11012G>A (p.(Arg3671Gln)), PKD1(NM_001009944.2):c.11015G>A (p.R3672Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000783228" "0" "90" "16" "2096263" "2096263" "subst" "0" "01164" "NTHL1_000240" "g.2096263G>A" "" "" "" "" "ACMG: PVS1, PS4_MOD; PM2_SUP" "Germline" "?" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000807132" "0" "30" "16" "2090179" "2090179" "subst" "0.000105628" "02369" "NTHL1_000241" "g.2090179T>C" "" "" "" "NTHL1(NM_001318193.1):c.599A>G (p.(Lys200Arg)), NTHL1(NM_002528.7):c.746A>G (p.K249R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807133" "0" "90" "16" "2093728" "2093728" "subst" "8.60472E-5" "02329" "NTHL1_000228" "g.2093728C>T" "" "" "" "NTHL1(NM_002528.7):c.526-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807137" "0" "50" "16" "2098584" "2098584" "subst" "4.06732E-6" "01943" "TSC2_004448" "g.2098584A>C" "" "" "" "TSC2(NM_001114382.2):c.-29-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000807139" "0" "50" "16" "2100422" "2100422" "subst" "0" "01943" "TSC2_004447" "g.2100422C>T" "" "" "" "TSC2(NM_001114382.2):c.160C>T (p.L54F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807140" "0" "50" "16" "2110730" "2110730" "subst" "8.12262E-6" "01943" "TSC2_004445" "g.2110730C>A" "" "" "" "TSC2(NM_000548.3):c.1035C>A (p.L345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807141" "0" "10" "16" "2112941" "2112941" "subst" "0.00378077" "02369" "TSC2_000396" "g.2112941C>G" "" "" "" "TSC2(NM_000548.3):c.1362-32C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807142" "0" "50" "16" "2113013" "2113013" "subst" "0" "01943" "TSC2_003295" "g.2113013G>A" "" "" "" "TSC2(NM_001114382.2):c.1402G>A (p.V468M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807144" "0" "50" "16" "2121610" "2121610" "subst" "0.00032179" "01943" "TSC2_000236" "g.2121610G>A" "" "" "" "TSC2(NM_001114382.2):c.1939G>A (p.D647N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807145" "0" "30" "16" "2122371" "2122371" "subst" "0" "01943" "TSC2_004444" "g.2122371T>G" "" "" "" "TSC2(NM_001114382.2):c.2220+7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807146" "0" "50" "16" "2125824" "2125824" "subst" "0" "01943" "TSC2_004443" "g.2125824A>G" "" "" "" "TSC2(NM_001114382.2):c.2570A>G (p.Y857C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807147" "0" "50" "16" "2129652" "2129652" "subst" "4.60762E-5" "01943" "TSC2_002628" "g.2129652C>T" "" "" "" "TSC2(NM_001114382.2):c.3379C>T (p.R1127W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807148" "0" "30" "16" "2130189" "2130189" "subst" "0.000472228" "02330" "TSC2_000782" "g.2130189G>A" "" "" "" "TSC2(NM_001370404.1):c.3289G>A (p.A1097T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807149" "0" "50" "16" "2134719" "2134719" "subst" "0" "02369" "TSC2_004439" "g.2134719G>A" "" "" "" "TSC2(NM_000548.3):c.4493+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807150" "0" "30" "16" "2135045" "2135045" "subst" "4.07166E-6" "02369" "TSC2_004436" "g.2135045C>T" "" "" "" "TSC2(NM_000548.3):c.4569+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807151" "0" "50" "16" "2137925" "2137925" "subst" "0" "02327" "TSC2_001741" "g.2137925C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807152" "0" "30" "16" "2138373" "2138373" "dup" "0" "02369" "TSC2_004432" "g.2138373dup" "" "" "" "TSC2(NM_000548.3):c.5259+47dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807153" "0" "30" "16" "2138461" "2138461" "subst" "2.84991E-5" "02326" "TSC2_004431" "g.2138461C>T" "" "" "" "TSC2(NM_000548.3):c.5274C>T (p.A1758=), TSC2(NM_000548.5):c.5274C>T (p.A1758=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807154" "0" "30" "16" "2138546" "2138546" "subst" "0.0022029" "02329" "TSC2_000301" "g.2138546G>A" "" "" "" "PKD1(NM_001009944.3):c.*1182C>T, TSC2(NM_000548.3):c.5359G>A (p.G1787S, p.(Gly1787Ser)), TSC2(NM_000548.5):c.5359G>A (p.G1787S), TSC2(NM_001114382...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807155" "0" "30" "16" "2139875" "2139875" "subst" "0.00376909" "01943" "PKD1_001199" "g.2139875G>A" "" "" "" "PKD1(NM_000296.3):c.12762C>T (p.(Pro4254=)), PKD1(NM_001009944.2):c.12765C>T (p.P4255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807156" "0" "30" "16" "2140148" "2140148" "subst" "1.2986E-5" "01943" "PKD1_002899" "g.2140148G>A" "" "" "" "PKD1(NM_000296.3):c.12489C>T (p.(Arg4163=)), PKD1(NM_001009944.2):c.12492C>T (p.R4164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807157" "0" "30" "16" "2140912" "2140912" "subst" "4.95879E-6" "01943" "PKD1_002891" "g.2140912G>A" "" "" "" "PKD1(NM_001009944.2):c.11976C>T (p.A3992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807158" "0" "30" "16" "2140912" "2140912" "subst" "0.00297528" "02326" "PKD1_000810" "g.2140912G>C" "" "" "" "PKD1(NM_000296.3):c.11973C>G (p.(Ala3991=)), PKD1(NM_001009944.2):c.11976C>G (p.A3992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807159" "0" "30" "16" "2141014" "2141014" "subst" "0" "01943" "PKD1_002890" "g.2141014G>A" "" "" "" "PKD1(NM_001009944.2):c.11874C>T (p.A3958=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807160" "0" "10" "16" "2141454" "2141454" "subst" "0.017369" "02327" "PKD1_000766" "g.2141454G>A" "" "" "" "PKD1(NM_000296.3):c.11679C>T (p.(Ser3893=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807161" "0" "30" "16" "2141547" "2141547" "subst" "0" "01943" "PKD1_002887" "g.2141547C>T" "" "" "" "PKD1(NM_001009944.2):c.11589G>A (p.L3863=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807162" "0" "10" "16" "2142083" "2142083" "subst" "0.00445305" "02326" "PKD1_002883" "g.2142083C>G" "" "" "" "PKD1(NM_001009944.2):c.11376G>C (p.S3792=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807163" "0" "90" "16" "2142954" "2142954" "subst" "0" "02327" "PKD1_001458" "g.2142954C>A" "" "" "" "PKD1(NM_001009944.2):c.11156+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000841923" "1" "90" "16" "2096239" "2096239" "subst" "0.00142689" "00006" "NTHL1_000001" "g.2096239G>A" "" "{PMID:Rivera 2015:26559593}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841924" "2" "90" "16" "2093567" "2093567" "subst" "4.15334E-6" "00006" "NTHL1_000260" "g.2093567C>T" "" "{PMID:Rivera 2015:26559593}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000854318" "0" "30" "16" "2097781" "2097781" "subst" "0.000224567" "02330" "NTHL1_000262" "g.2097781A>G" "" "" "" "NTHL1(NM_002528.7):c.44T>C (p.L15P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854319" "0" "30" "16" "2103368" "2103368" "subst" "0.000326174" "02330" "TSC2_000718" "g.2103368C>T" "" "" "" "TSC2(NM_000548.3):c.251C>T (p.A84V), TSC2(NM_000548.5):c.251C>T (p.A84V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854320" "0" "30" "16" "2103392" "2103392" "subst" "0.00100189" "02326" "TSC2_000963" "g.2103392A>T" "" "" "" "TSC2(NM_000548.3):c.275A>T (p.(Glu92Val), p.E92V), TSC2(NM_000548.5):c.275A>T (p.E92V), TSC2(NM_001114382.2):c.275A>T (p.E92V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854321" "0" "50" "16" "2104402" "2104402" "subst" "0" "02325" "TSC2_001973" "g.2104402G>A" "" "" "" "TSC2(NM_000548.5):c.442G>A (p.D148N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000854322" "0" "50" "16" "2106745" "2106745" "subst" "0" "02369" "TSC2_001985" "g.2106745A>G" "" "" "" "TSC2(NM_000548.3):c.749A>G (p.K250R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000854323" "0" "30" "16" "2112521" "2112521" "subst" "0.00171838" "01804" "TSC2_000064" "g.2112521C>A" "" "" "" "TSC2(NM_000548.3):c.1281C>A (p.I427=, p.(Ile427=)), TSC2(NM_000548.5):c.1281C>A (p.I427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854324" "0" "30" "16" "2124203" "2124203" "subst" "8.20028E-6" "02326" "TSC2_001470" "g.2124203C>T" "" "" "" "TSC2(NM_000548.3):c.2358C>T (p.R786=), TSC2(NM_000548.5):c.2358C>T (p.R786=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854325" "0" "30" "16" "2129045" "2129045" "subst" "0.000863178" "01804" "TSC2_000491" "g.2129045G>A" "" "" "" "TSC2(NM_000548.3):c.2979G>A (p.T993=, p.(Thr993=)), TSC2(NM_000548.5):c.2979G>A (p.T993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854326" "0" "30" "16" "2129192" "2129192" "subst" "1.22081E-5" "01943" "TSC2_004362" "g.2129192G>A" "" "" "" "TSC2(NM_001114382.2):c.3126G>A (p.P1042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000854327" "0" "10" "16" "2129192" "2129192" "subst" "0.00313342" "02326" "TSC2_000499" "g.2129192G>C" "" "" "" "TSC2(NM_000548.3):c.3126G>C (p.P1042=), TSC2(NM_000548.5):c.3126G>C (p.P1042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854328" "0" "50" "16" "2130243" "2130243" "subst" "0.000383095" "01943" "TSC2_000762" "g.2130243C>T" "" "" "" "TSC2(NM_000548.5):c.3475C>T (p.R1159W), TSC2(NM_001114382.2):c.3475C>T (p.R1159W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854329" "0" "50" "16" "2130319" "2130319" "subst" "2.03764E-5" "01943" "TSC2_004310" "g.2130319C>T" "" "" "" "TSC2(NM_000548.5):c.3551C>T (p.A1184V), TSC2(NM_001114382.2):c.3551C>T (p.A1184V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000854330" "0" "50" "16" "2135282" "2135282" "subst" "0" "02325" "TSC2_001949" "g.2135282G>A" "" "" "" "TSC2(NM_000548.5):c.4621G>A (p.D1541N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000854331" "0" "30" "16" "2135341" "2135341" "subst" "0.000130828" "02326" "TSC2_000023" "g.2135341G>A" "" "" "" "TSC2(NM_000548.3):c.4662+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854332" "0" "30" "16" "2136812" "2136812" "subst" "7.43691E-5" "02330" "TSC2_003228" "g.2136812C>T" "" "" "" "TSC2(NM_001370404.1):c.4797C>T (p.N1599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854333" "0" "90" "16" "2137942" "2137942" "subst" "0" "02327" "TSC2_000998" "g.2137942G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854334" "0" "30" "16" "2138097" "2138097" "subst" "7.32625E-5" "01943" "TSC2_000944" "g.2138097G>A" "" "" "" "PKD1(NM_001009944.3):c.*1631C>T, TSC2(NM_000548.5):c.5117G>A (p.R1706H), TSC2(NM_001114382.2):c.5048G>A (p.R1683H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854335" "0" "30" "16" "2139871" "2139871" "subst" "0.000505889" "01943" "PKD1_001197" "g.2139871C>T" "" "" "" "PKD1(NM_001009944.2):c.12769G>A (p.G4257R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854336" "0" "30" "16" "2139950" "2139950" "subst" "0.000215583" "01943" "NTHL1_000277" "g.2139950G>A" "" "" "" "PKD1(NM_001009944.2):c.12690C>T (p.N4230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854337" "0" "90" "16" "2140576" "2140576" "dup" "0" "02326" "NTHL1_000282" "g.2140576dup" "" "" "" "PKD1(NM_001009944.2):c.12154dupG (p.V4052Gfs*105)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854338" "0" "30" "16" "2140923" "2140923" "subst" "0.00019949" "01943" "NTHL1_000284" "g.2140923C>T" "" "" "" "PKD1(NM_001009944.2):c.11965G>A (p.G3989S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854339" "0" "50" "16" "2141134" "2141134" "subst" "0" "02326" "NTHL1_000290" "g.2141134C>G" "" "" "" "PKD1(NM_001009944.2):c.11754G>C (p.E3918D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854340" "0" "30" "16" "2141448" "2141448" "subst" "0.000665188" "01943" "NTHL1_000294" "g.2141448G>A" "" "" "" "PKD1(NM_001009944.2):c.11688C>T (p.G3896=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854341" "0" "30" "16" "2141547" "2141547" "subst" "0" "02326" "PKD1_002887" "g.2141547C>T" "" "" "" "PKD1(NM_001009944.2):c.11589G>A (p.L3863=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854342" "0" "30" "16" "2141853" "2141853" "subst" "0" "01943" "NTHL1_000299" "g.2141853C>A" "" "" "" "PKD1(NM_001009944.2):c.11466G>T (p.E3822D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854343" "0" "90" "16" "2142112" "2142119" "del" "0" "02327" "PKD1_000069" "g.2142112_2142119del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854344" "0" "30" "16" "2142122" "2142122" "subst" "0.000746555" "02326" "PKD1_001423" "g.2142122G>C" "" "" "" "PKD1(NM_001009944.2):c.11337C>G (p.S3779R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854345" "0" "70" "16" "2142492" "2142492" "subst" "0" "02327" "PKD1_000329" "g.2142492C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000854346" "0" "30" "16" "2143650" "2143650" "subst" "2.97493E-5" "01943" "NTHL1_000307" "g.2143650C>T" "" "" "" "PKD1(NM_001009944.2):c.10911G>A (p.T3637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864358" "0" "50" "16" "2096337" "2096337" "subst" "1.22366E-5" "01804" "NTHL1_000261" "g.2096337C>T" "" "" "" "NTHL1(NM_002528.5):c.170G>A (p.(Arg57His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864359" "0" "30" "16" "2103372" "2103372" "subst" "0.0011761" "01804" "TSC2_000074" "g.2103372C>T" "" "" "" "TSC2(NM_000548.3):c.255C>T (p.(Val85=)), TSC2(NM_000548.5):c.255C>T (p.V85=), TSC2(NM_001114382.2):c.255C>T (p.V85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864360" "0" "50" "16" "2104363" "2104363" "subst" "4.06065E-6" "02325" "TSC2_001958" "g.2104363G>A" "" "" "" "TSC2(NM_000548.5):c.403G>A (p.D135N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000864361" "0" "30" "16" "2105537" "2105537" "subst" "0.000113706" "02326" "TSC2_001978" "g.2105537G>C" "" "" "" "TSC2(NM_000548.3):c.599+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000864362" "0" "30" "16" "2106179" "2106179" "subst" "4.10314E-6" "01804" "TSC2_001981" "g.2106179G>C" "" "" "" "TSC2(NM_000548.3):c.600-18G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000864363" "0" "30" "16" "2106230" "2106230" "subst" "4.10115E-6" "02326" "TSC2_001982" "g.2106230C>T" "" "" "" "TSC2(NM_000548.3):c.633C>T (p.S211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000864364" "0" "50" "16" "2106696" "2106696" "subst" "0" "02327" "TSC2_001310" "g.2106696G>C" "" "" "" "TSC2(NM_000548.3):c.700G>C (p.E234Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864365" "0" "30" "16" "2112558" "2112558" "subst" "0.000718652" "01804" "TSC2_000167" "g.2112558G>A" "" "" "" "TSC2(NM_000548.3):c.1318G>A (p.G440S, p.(Gly440Ser)), TSC2(NM_000548.5):c.1318G>A (p.G440S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864366" "0" "50" "16" "2112996" "2112996" "subst" "0" "01943" "TSC2_000398" "g.2112996G>A" "" "" "" "TSC2(NM_001114382.2):c.1385G>A (p.R462H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864367" "0" "30" "16" "2112998" "2112998" "subst" "0.000477234" "02329" "TSC2_000169" "g.2112998A>G" "" "" "" "TSC2(NM_000548.5):c.1387A>G (p.I463V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864368" "0" "30" "16" "2113009" "2113009" "subst" "5.37194E-5" "01943" "TSC2_001989" "g.2113009G>A" "" "" "" "TSC2(NM_001114382.2):c.1398G>A (p.L466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000864369" "0" "30" "16" "2113068" "2113068" "subst" "0" "01804" "TSC2_001990" "g.2113068C>A" "" "" "" "TSC2(NM_000548.3):c.1443+14C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000864371" "0" "30" "16" "2120487" "2120487" "subst" "0.00196373" "01804" "TSC2_000178" "g.2120487G>A" "" "" "" "TSC2(NM_000548.3):c.1747G>A (p.A583T, p.(Ala583Thr)), TSC2(NM_000548.5):c.1747G>A (p.A583T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864372" "0" "30" "16" "2121811" "2121811" "subst" "0.000283472" "02325" "TSC2_002020" "g.2121811A>C" "" "" "" "TSC2(NM_000548.5):c.1973A>C (p.K658T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864373" "0" "30" "16" "2121869" "2121869" "subst" "0.00250745" "01804" "TSC2_000191" "g.2121869C>T" "" "" "" "TSC2(NM_000548.3):c.2031C>T (p.P677=, p.(Pro677=)), TSC2(NM_000548.5):c.2031C>T (p.P677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864374" "0" "50" "16" "2124337" "2124337" "subst" "4.07471E-6" "01943" "TSC2_001439" "g.2124337C>T" "" "" "" "TSC2(NM_001114382.2):c.2492C>T (p.T831M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000864376" "0" "30" "16" "2133701" "2133701" "subst" "0.00281981" "01804" "TSC2_000542" "g.2133701G>A" "" "" "" "TSC2(NM_000548.3):c.3889G>A (p.(Ala1297Thr)), TSC2(NM_000548.5):c.3889G>A (p.A1297T), TSC2(NM_001370404.1):c.3757G>A (p.A1253T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864377" "0" "10" "16" "2133798" "2133798" "subst" "0.00532816" "01804" "TSC2_000092" "g.2133798G>A" "" "" "" "TSC2(NM_000548.3):c.3986G>A (p.R1329H, p.(Arg1329His)), TSC2(NM_000548.5):c.3986G>A (p.R1329H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864378" "0" "30" "16" "2134492" "2134492" "subst" "0.00269103" "01804" "TSC2_000570" "g.2134492G>A" "" "" "" "TSC2(NM_000548.3):c.4269G>A (p.L1423=, p.(Leu1423=)), TSC2(NM_000548.5):c.4269G>A (p.L1423=), TSC2(NM_001370404.1):c.4137G>A (p.L1379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864379" "0" "30" "16" "2134994" "2134994" "subst" "0.00313367" "01804" "TSC2_000018" "g.2134994C>T" "" "" "" "TSC2(NM_000548.3):c.4536C>T (p.D1512=, p.(Asp1512=)), TSC2(NM_000548.5):c.4536C>T (p.D1512=), TSC2(NM_001114382.2):c.4467C>T (p.D1489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864380" "0" "30" "16" "2134994" "2134994" "subst" "0.00313367" "02326" "TSC2_000018" "g.2134994C>T" "" "" "" "TSC2(NM_000548.3):c.4536C>T (p.D1512=, p.(Asp1512=)), TSC2(NM_000548.5):c.4536C>T (p.D1512=), TSC2(NM_001114382.2):c.4467C>T (p.D1489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864381" "0" "30" "16" "2136746" "2136746" "subst" "8.16593E-6" "01943" "TSC2_004811" "g.2136746C>T" "" "" "" "TSC2(NM_001114382.2):c.4794C>T (p.I1598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000864382" "0" "10" "16" "2136842" "2136842" "subst" "0.00963142" "01804" "TSC2_000031" "g.2136842C>T" "" "" "" "TSC2(NM_000548.3):c.4959C>T (p.S1653=, p.(Ser1653=)), TSC2(NM_000548.5):c.4959C>T (p.S1653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864383" "0" "30" "16" "2138086" "2138086" "subst" "0.000736593" "01804" "TSC2_000643" "g.2138086C>A" "" "" "" "TSC2(NM_000548.3):c.5106C>A (p.(Ile1702=), p.I1702=), TSC2(NM_000548.5):c.5106C>A (p.I1702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864384" "0" "30" "16" "2138086" "2138086" "subst" "0.000736593" "02326" "TSC2_000643" "g.2138086C>A" "" "" "" "TSC2(NM_000548.3):c.5106C>A (p.(Ile1702=), p.I1702=), TSC2(NM_000548.5):c.5106C>A (p.I1702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864385" "0" "10" "16" "2139814" "2139814" "subst" "0.00377645" "01804" "PKD1_000046" "g.2139814G>A" "" "" "" "PKD1(NM_000296.3):c.12823C>T (p.(Arg4275Trp)), PKD1(NM_001009944.2):c.12826C>T (p.R4276W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864386" "0" "30" "16" "2139875" "2139875" "subst" "0.00376909" "01804" "PKD1_001199" "g.2139875G>A" "" "" "" "PKD1(NM_000296.3):c.12762C>T (p.(Pro4254=)), PKD1(NM_001009944.2):c.12765C>T (p.P4255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864387" "0" "90" "16" "2139909" "2139919" "dup" "0" "01804" "NTHL1_000276" "g.2139909_2139919dup" "" "" "" "PKD1(NM_001009944.2):c.12725_12735dup (p.(Leu4246SerfsTer116))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864388" "0" "90" "16" "2139928" "2139928" "subst" "0" "01804" "PKD1_001202" "g.2139928G>A" "" "" "" "PKD1(NM_001009944.2):c.12712C>T (p.(Gln4238Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864389" "0" "90" "16" "2139958" "2139958" "subst" "0" "01804" "PKD1_000004" "g.2139958G>A" "" "" "" "PKD1(NM_001009944.2):c.12682C>T (p.(Arg4228*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864390" "0" "30" "16" "2139976" "2139976" "subst" "0.00229081" "01804" "PKD1_002856" "g.2139976G>A" "" "" "" "PKD1(NM_000296.3):c.12661C>T (p.(Leu4221=)), PKD1(NM_001009944.2):c.12664C>T (p.L4222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864391" "0" "90" "16" "2140028" "2140028" "dup" "0" "01804" "NTHL1_000278" "g.2140028dup" "" "" "" "PKD1(NM_001009944.2):c.12615dup (p.(Thr4206Aspfs*4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864392" "0" "90" "16" "2140153" "2140154" "del" "0" "01804" "NTHL1_000279" "g.2140153_2140154del" "" "" "" "PKD1(NM_001009944.2):c.12489_12490del (p.(Arg4164Leufs*45))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864393" "0" "70" "16" "2140192" "2140192" "subst" "0" "01804" "PKD1_000272" "g.2140192G>A" "" "" "" "PKD1(NM_001009944.2):c.12448C>T (p.(Arg4150Cys), p.R4150C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864394" "0" "90" "16" "2140192" "2140193" "ins" "0" "01804" "NTHL1_000280" "g.2140192_2140193insTTCG" "" "" "" "PKD1(NM_001009944.2):c.12449_12450insAACG (p.(His4151Thrfs*7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864395" "0" "30" "16" "2140486" "2140486" "subst" "5.844E-5" "01804" "NTHL1_000281" "g.2140486G>A" "" "" "" "PKD1(NM_000296.3):c.12241C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864396" "0" "90" "16" "2140900" "2140903" "del" "0" "01804" "NTHL1_000283" "g.2140900_2140903del" "" "" "" "PKD1(NM_001009944.2):c.11987_11990del (p.(Phe3996CysfsTer42))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864397" "0" "30" "16" "2140912" "2140912" "subst" "0.00297528" "01804" "PKD1_000810" "g.2140912G>C" "" "" "" "PKD1(NM_000296.3):c.11973C>G (p.(Ala3991=)), PKD1(NM_001009944.2):c.11976C>G (p.A3992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864398" "0" "50" "16" "2140946" "2140946" "subst" "0" "02326" "NTHL1_000285" "g.2140946G>A" "" "" "" "PKD1(NM_001009944.2):c.11942C>T (p.A3981V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864399" "0" "50" "16" "2141013" "2141013" "subst" "0" "01804" "NTHL1_000286" "g.2141013C>T" "" "" "" "PKD1(NM_001009944.2):c.11875G>A (p.(Ala3959Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864400" "0" "70" "16" "2141054" "2141062" "dup" "0" "01804" "NTHL1_000287" "g.2141054_2141062dup" "" "" "" "PKD1(NM_001009944.2):c.11830_11838dup (p.(Leu3944_Ala3946dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864401" "0" "30" "16" "2141104" "2141104" "subst" "0.000133766" "01943" "NTHL1_000288" "g.2141104C>A" "" "" "" "PKD1(NM_001009944.2):c.11784G>T (p.W3928C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864402" "0" "30" "16" "2141105" "2141105" "subst" "0.000134128" "01943" "NTHL1_000289" "g.2141105C>A" "" "" "" "PKD1(NM_001009944.2):c.11783G>T (p.W3928L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864403" "0" "30" "16" "2141137" "2141137" "subst" "0" "01804" "NTHL1_000291" "g.2141137G>A" "" "" "" "PKD1(NM_000296.3):c.11748C>T (p.(Ala3916=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864404" "0" "90" "16" "2141170" "2141170" "subst" "0" "01804" "NTHL1_000292" "g.2141170G>T" "" "" "" "PKD1(NM_001009944.2):c.11718C>A (p.(Cys3906Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864405" "0" "50" "16" "2141171" "2141171" "subst" "0" "01804" "NTHL1_000293" "g.2141171C>T" "" "" "" "PKD1(NM_001009944.2):c.11717G>A (p.(Cys3906Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864406" "0" "30" "16" "2141395" "2141395" "subst" "0.037037" "01804" "PKD1_001354" "g.2141395G>A" "" "" "" "PKD1(NM_000296.3):c.11709+29C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864407" "0" "30" "16" "2141484" "2141484" "subst" "0.000643766" "01804" "PKD1_001365" "g.2141484G>A" "" "" "" "PKD1(NM_000296.3):c.11649C>T (p.(Ser3883=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864408" "0" "70" "16" "2141497" "2141497" "subst" "0" "01804" "NTHL1_000295" "g.2141497A>G" "" "" "" "PKD1(NM_001009944.2):c.11639T>C (p.(Leu3880Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864409" "0" "30" "16" "2141509" "2141509" "subst" "0" "01804" "PKD1_001369" "g.2141509G>A" "" "" "" "PKD1(NM_000296.3):c.11624C>T (p.(Ala3875Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864410" "0" "30" "16" "2141559" "2141559" "subst" "0.0018804" "01804" "NTHL1_000296" "g.2141559C>A" "" "" "" "PKD1(NM_000296.3):c.11574G>T (p.(Pro3858=)), PKD1(NM_001009944.2):c.11577G>T (p.P3859=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864411" "0" "10" "16" "2141559" "2141559" "subst" "0.0018804" "02326" "NTHL1_000296" "g.2141559C>A" "" "" "" "PKD1(NM_000296.3):c.11574G>T (p.(Pro3858=)), PKD1(NM_001009944.2):c.11577G>T (p.P3859=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864412" "0" "90" "16" "2141782" "2141782" "del" "0" "01804" "NTHL1_000297" "g.2141782del" "" "" "" "PKD1(NM_001009944.2):c.11537+1del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864413" "0" "90" "16" "2141785" "2141788" "del" "0" "01804" "NTHL1_000298" "g.2141785_2141788del" "" "" "" "PKD1(NM_001009944.2):c.11531_11534del (p.(Asp3844Alafs*100))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864414" "0" "90" "16" "2141807" "2141807" "subst" "0" "01804" "PKD1_000005" "g.2141807G>A" "" "" "" "PKD1(NM_001009944.2):c.11512C>T (p.(Gln3838Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864415" "0" "30" "16" "2141846" "2141846" "subst" "9.8912E-5" "01804" "PKD1_001393" "g.2141846G>A" "" "" "" "PKD1(NM_000296.3):c.11470C>T (p.(Leu3824=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864416" "0" "90" "16" "2141870" "2141870" "del" "0" "02326" "NTHL1_000300" "g.2141870del" "" "" "" "PKD1(NM_001009944.2):c.11453delG (p.G3818Afs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864417" "0" "90" "16" "2141870" "2141870" "dup" "0" "02326" "PKD1_001396" "g.2141870dup" "" "" "" "PKD1(NM_000296.3):c.11450dup (p.(Tyr3818LeufsTer142)), PKD1(NM_001009944.2):c.11453dupG (p.Y3819Lfs*142)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864418" "0" "30" "16" "2142103" "2142103" "subst" "0.000530149" "01943" "PKD1_002853" "g.2142103C>G" "" "" "" "PKD1(NM_000296.3):c.11353G>C (p.(Glu3785Gln)), PKD1(NM_001009944.2):c.11356G>C (p.E3786Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864419" "0" "50" "16" "2142105" "2142105" "subst" "0" "01804" "PKD1_000585" "g.2142105C>A" "" "" "" "PKD1(NM_001009944.2):c.11354G>T (p.(Trp3785Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864420" "0" "90" "16" "2142116" "2142116" "subst" "0" "01804" "PKD1_000587" "g.2142116G>T" "" "" "" "PKD1(NM_000296.3):c.11340C>A (p.(Tyr3780*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864421" "0" "30" "16" "2142143" "2142143" "subst" "0.00148696" "01804" "NTHL1_000301" "g.2142143G>C" "" "" "" "PKD1(NM_000296.3):c.11313C>G (p.(Ala3771=)), PKD1(NM_001009944.2):c.11316C>G (p.A3772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864422" "0" "10" "16" "2142143" "2142143" "subst" "0.00148696" "02326" "NTHL1_000301" "g.2142143G>C" "" "" "" "PKD1(NM_000296.3):c.11313C>G (p.(Ala3771=)), PKD1(NM_001009944.2):c.11316C>G (p.A3772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864423" "0" "50" "16" "2142481" "2142481" "subst" "0" "01804" "NTHL1_000302" "g.2142481C>G" "" "" "" "PKD1(NM_001009944.2):c.11269G>C (p.(Ala3757Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864424" "0" "90" "16" "2142487" "2142487" "subst" "0" "01804" "NTHL1_000303" "g.2142487G>A" "" "" "" "PKD1(NM_001009944.2):c.11263C>T (p.(Gln3755Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864425" "0" "10" "16" "2142942" "2142942" "subst" "0.0107386" "01804" "PKD1_001455" "g.2142942C>T" "" "" "" "PKD1(NM_000296.3):c.11153+13G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864426" "0" "70" "16" "2142954" "2142954" "subst" "0" "01804" "PKD1_001458" "g.2142954C>A" "" "" "" "PKD1(NM_001009944.2):c.11156+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864427" "0" "90" "16" "2143045" "2143045" "dup" "0" "01804" "NTHL1_000304" "g.2143045dup" "" "" "" "PKD1(NM_001009944.2):c.11066dup (p.(Tyr3689*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864428" "0" "30" "16" "2143531" "2143531" "subst" "0" "01804" "NTHL1_000305" "g.2143531G>A" "" "" "" "PKD1(NM_000296.3):c.11013+14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864429" "0" "30" "16" "2143546" "2143546" "subst" "0.000429801" "01804" "PKD1_000594" "g.2143546C>T" "" "" "" "LOC105371049(NR_135175.1):n.303+533C>T, PKD1(NM_000296.3):c.11012G>A (p.(Arg3671Gln)), PKD1(NM_001009944.2):c.11015G>A (p.R3672Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864430" "0" "50" "16" "2143622" "2143622" "subst" "0.000207657" "01943" "PKD1_002875" "g.2143622G>A" "" "" "" "PKD1(NM_000296.3):c.10936C>T (p.(Arg3646Trp)), PKD1(NM_001009944.2):c.10939C>T (p.R3647W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864431" "0" "50" "16" "2143641" "2143641" "subst" "0.000194691" "01804" "NTHL1_000306" "g.2143641G>A" "" "" "" "PKD1(NM_000296.3):c.10917C>T (p.(Ser3639=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892611" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "02326" "NTHL1_000001" "g.2096239G>A" "" "" "" "NTHL1(NM_001318193.1):c.268C>T (p.(Gln90Ter)), NTHL1(NM_002528.7):c.244C>T (p.Q82*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892612" "0" "90" "16" "2097709" "2097709" "subst" "0" "02326" "NTHL1_000230" "g.2097709C>T" "" "" "" "NTHL1(NM_002528.7):c.115+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892613" "0" "50" "16" "2097840" "2097840" "subst" "0" "02325" "NTHL1_000308" "g.2097840A>C" "" "" "" "TSC2(NM_000548.5):c.-256A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892614" "0" "30" "16" "2104304" "2104304" "subst" "6.09107E-5" "02330" "TSC2_001951" "g.2104304G>A" "" "" "" "TSC2(NM_000548.3):c.344G>A (p.R115H), TSC2(NM_000548.5):c.344G>A (p.R115H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000892615" "0" "30" "16" "2105523" "2105523" "subst" "0" "02330" "TSC2_002127" "g.2105523A>G" "" "" "" "TSC2(NM_000548.3):c.599+3A>G, TSC2(NM_000548.5):c.599+3A>G, TSC2(NM_001370404.1):c.599+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892616" "0" "30" "16" "2111895" "2111895" "subst" "0.000324971" "01804" "TSC2_000124" "g.2111895G>A" "" "" "" "TSC2(NM_000548.3):c.1143G>A (p.(Arg381=)), TSC2(NM_000548.5):c.1143G>A (p.R381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892618" "0" "90" "16" "2114394" "2114395" "del" "0" "02325" "TSC2_002949" "g.2114394_2114395del" "" "" "" "TSC2(NM_000548.5):c.1565_1566delAC (p.H522Pfs*66)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892619" "0" "30" "16" "2120475" "2120475" "subst" "0.000105705" "02325" "TSC2_000418" "g.2120475C>G" "" "" "" "TSC2(NM_000548.5):c.1735C>G (p.P579A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892620" "0" "30" "16" "2124237" "2124237" "subst" "7.33981E-5" "02330" "TSC2_002963" "g.2124237C>T" "" "" "" "TSC2(NM_000548.5):c.2392C>T (p.H798Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892621" "0" "30" "16" "2125816" "2125816" "subst" "4.88878E-5" "02326" "TSC2_002965" "g.2125816G>A" "" "" "" "TSC2(NM_000548.3):c.2562G>A (p.P854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892622" "0" "50" "16" "2125830" "2125830" "subst" "0" "02325" "TSC2_003845" "g.2125830A>C" "" "" "" "TSC2(NM_000548.5):c.2576A>C (p.N859T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892623" "0" "90" "16" "2126143" "2126143" "subst" "0" "02329" "TSC2_000134" "g.2126143G>A" "" "" "" "TSC2(NM_000548.3):c.2714G>A (p.R905Q), TSC2(NM_000548.5):c.2714G>A (p.R905Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892624" "0" "30" "16" "2126489" "2126489" "subst" "0.000268402" "02326" "TSC2_000480" "g.2126489C>A" "" "" "" "TSC2(NM_000548.3):c.2743-3C>A, TSC2(NM_000548.5):c.2743-3C>A, TSC2(NM_001114382.2):c.2743-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892625" "0" "50" "16" "2129061" "2129061" "subst" "8.13875E-6" "02325" "TSC2_004245" "g.2129061A>T" "" "" "" "TSC2(NM_000548.5):c.2995A>T (p.S999C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000892626" "0" "10" "16" "2129088" "2129088" "subst" "2.03384E-5" "02326" "TSC2_002370" "g.2129088G>A" "" "" "" "TSC2(NM_000548.3):c.3022G>A (p.V1008M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892627" "0" "30" "16" "2134270" "2134270" "subst" "0.000109993" "02326" "TSC2_000763" "g.2134270G>A" "" "" "" "TSC2(NM_000548.3):c.4047G>A (p.A1349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892628" "0" "30" "16" "2134360" "2134360" "subst" "5.31719E-5" "02326" "TSC2_004313" "g.2134360G>A" "" "" "" "TSC2(NM_000548.3):c.4137G>A (p.S1379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000892629" "0" "30" "16" "2135251" "2135251" "subst" "0" "01804" "TSC2_004312" "g.2135251G>T" "" "" "" "TSC2(NM_000548.3):c.4590G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000892630" "0" "30" "16" "2136277" "2136277" "subst" "8.1483E-6" "02326" "TSC2_004809" "g.2136277C>T" "" "" "" "TSC2(NM_000548.3):c.4746C>T (p.I1582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000892631" "0" "70" "16" "2136751" "2136751" "subst" "0" "02329" "TSC2_001241" "g.2136751C>T" "" "" "" "TSC2(NM_000548.3):c.4868C>T (p.T1623I), TSC2(NM_000548.5):c.4868C>T (p.T1623I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892632" "0" "30" "16" "2138086" "2138086" "subst" "0.000736593" "02325" "TSC2_000643" "g.2138086C>A" "" "" "" "TSC2(NM_000548.3):c.5106C>A (p.(Ile1702=), p.I1702=), TSC2(NM_000548.5):c.5106C>A (p.I1702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892633" "0" "30" "16" "2138253" "2138253" "subst" "5.69388E-5" "02325" "TSC2_004813" "g.2138253G>A" "" "" "" "TSC2(NM_000548.5):c.5186G>A (p.R1729H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000892634" "0" "50" "16" "2138318" "2138318" "subst" "3.26525E-5" "01804" "TSC2_003683" "g.2138318C>T" "" "" "" "TSC2(NM_000548.3):c.5251C>T (p.(Arg1751Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892635" "0" "30" "16" "2138499" "2138499" "subst" "0.000179168" "02325" "TSC2_001136" "g.2138499C>T" "" "" "" "TSC2(NM_000548.5):c.5312C>T (p.P1771L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892636" "0" "70" "16" "2139973" "2139984" "del" "0" "01804" "NTHL1_000315" "g.2139973_2139984del" "" "" "" "PKD1(NM_001009944.2):c.12658_12669del (p.(Glu4220_Leu4223del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892637" "0" "90" "16" "2140118" "2140118" "del" "0" "01804" "NTHL1_000316" "g.2140118del" "" "" "" "PKD1(NM_001009944.2):c.12522del (p.(Asp4174Glufs*24))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892638" "0" "50" "16" "2140146" "2140146" "subst" "3.02952E-5" "02326" "NTHL1_000317" "g.2140146G>A" "" "" "" "PKD1(NM_001009944.2):c.12494C>T (p.S4165F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892639" "0" "90" "16" "2140192" "2140192" "subst" "0" "02326" "PKD1_000272" "g.2140192G>A" "" "" "" "PKD1(NM_001009944.2):c.12448C>T (p.(Arg4150Cys), p.R4150C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892640" "0" "50" "16" "2140322" "2140322" "subst" "0" "01804" "NTHL1_000318" "g.2140322C>G" "" "" "" "PKD1(NM_001009944.2):c.12408G>C (p.(Arg4136Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892641" "0" "90" "16" "2140458" "2140459" "del" "0" "01804" "NTHL1_000319" "g.2140458_2140459del" "" "" "" "PKD1(NM_001009944.2):c.12271_12272del (p.(Trp4091Glyfs*65))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892642" "0" "90" "16" "2140466" "2140466" "del" "0" "01804" "NTHL1_000320" "g.2140466del" "" "" "" "PKD1(NM_001009944.2):c.12267del (p.(Leu4090Serfs*108))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892643" "0" "30" "16" "2140532" "2140532" "subst" "0.00113207" "02326" "PKD1_001287" "g.2140532G>A" "" "" "" "PKD1(NM_001009944.2):c.12198C>T (p.C4066=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892644" "0" "30" "16" "2140568" "2140568" "subst" "0.000126676" "02326" "NTHL1_000321" "g.2140568G>A" "" "" "" "PKD1(NM_000296.3):c.12159C>T (p.(Ser4053=)), PKD1(NM_001009944.2):c.12162C>T (p.S4054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892645" "0" "30" "16" "2140658" "2140658" "subst" "0.000149722" "01804" "PKD1_001301" "g.2140658G>A" "" "" "" "PKD1(NM_000296.3):c.12135+17C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892646" "0" "90" "16" "2140803" "2140803" "subst" "4.16063E-6" "02327" "PKD1_000269" "g.2140803G>A" "" "" "" "PKD1(NM_001009944.2):c.12010C>T (p.Q4004*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892647" "0" "10" "16" "2140927" "2140927" "subst" "0.00453887" "01804" "PKD1_001324" "g.2140927G>A" "" "" "" "PKD1(NM_000296.3):c.11958C>T (p.(Ala3986=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892648" "0" "90" "16" "2140949" "2140949" "dup" "0" "01804" "NTHL1_000322" "g.2140949dup" "" "" "" "PKD1(NM_001009944.2):c.11939dup (p.(Ala3981Glyfs*176))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892649" "0" "30" "16" "2140972" "2140972" "subst" "0.000681158" "01804" "PKD1_001330" "g.2140972G>C" "" "" "" "PKD1(NM_000296.3):c.11913C>G (p.(Arg3971=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892650" "0" "30" "16" "2141018" "2141018" "subst" "0.000614917" "02326" "PKD1_000567" "g.2141018C>T" "" "" "" "PKD1(NM_001009944.2):c.11870G>A (p.G3957D, p.(Gly3957Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892651" "0" "90" "16" "2141115" "2141115" "subst" "0" "02327" "NTHL1_000323" "g.2141115C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892652" "0" "30" "16" "2141445" "2141445" "subst" "0" "02327" "NTHL1_000324" "g.2141445G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892653" "0" "30" "16" "2141532" "2141532" "subst" "0" "01804" "NTHL1_000325" "g.2141532C>A" "" "" "" "PKD1(NM_001009944.2):c.11604G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892654" "0" "10" "16" "2141796" "2141796" "subst" "0.00162928" "02326" "PKD1_001387" "g.2141796G>A" "" "" "" "PKD1(NM_000296.3):c.11520C>T (p.(Asn3840=)), PKD1(NM_001009944.2):c.11523C>T (p.N3841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892655" "0" "30" "16" "2142030" "2142030" "subst" "0.00107234" "02326" "PKD1_001407" "g.2142030G>A" "" "" "" "PKD1(NM_001009944.2):c.11411+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892656" "0" "90" "16" "2142105" "2142105" "subst" "0" "02327" "PKD1_000585" "g.2142105C>A" "" "" "" "PKD1(NM_001009944.2):c.11354G>T (p.(Trp3785Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892657" "0" "90" "16" "2142493" "2142493" "subst" "0" "02327" "PKD1_000070" "g.2142493G>A" "" "" "" "PKD1(NM_001009944.2):c.11257C>T (p.(Arg3753Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892658" "0" "70" "16" "2142955" "2142955" "subst" "0" "01804" "NTHL1_000326" "g.2142955C>A" "" "" "" "PKD1(NM_001009944.2):c.11156G>T (p.(Arg3719Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892659" "0" "50" "16" "2142956" "2142956" "subst" "0" "02325" "NTHL1_000327" "g.2142956G>A" "" "" "" "PKD1(NM_001009944.2):c.11155C>T (p.R3719W), PKD1(NM_001009944.3):c.11155C>T (p.R3719W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892660" "0" "30" "16" "2143611" "2143611" "subst" "5.07769E-5" "01804" "NTHL1_000328" "g.2143611G>A" "" "" "" "PKD1(NM_000296.3):c.10947C>T (p.(His3649=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914499" "0" "90" "16" "2106246" "2106250" "del" "0" "02325" "TSC2_001983" "g.2106246_2106250del" "" "" "" "TSC2(NM_000548.5):c.647_648+3delAGGTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000914500" "0" "50" "16" "2106706" "2106706" "subst" "2.85602E-5" "02325" "TSC2_002607" "g.2106706C>T" "" "" "" "TSC2(NM_000548.5):c.710C>T (p.P237L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914501" "0" "30" "16" "2121870" "2121870" "subst" "0.00106096" "02329" "TSC2_003308" "g.2121870G>A" "" "" "" "TSC2(NM_000548.3):c.2032G>A (p.A678T, p.(Ala678Thr)), TSC2(NM_000548.5):c.2032G>A (p.A678T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914502" "0" "50" "16" "2129587" "2129587" "subst" "0" "02325" "TSC2_003927" "g.2129587C>T" "" "" "" "TSC2(NM_000548.3):c.3314C>T (p.T1105I), TSC2(NM_000548.5):c.3314C>T (p.T1105I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914503" "0" "30" "16" "2140148" "2140148" "subst" "1.2986E-5" "01804" "PKD1_002899" "g.2140148G>A" "" "" "" "PKD1(NM_000296.3):c.12489C>T (p.(Arg4163=)), PKD1(NM_001009944.2):c.12492C>T (p.R4164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914504" "0" "30" "16" "2140180" "2140180" "subst" "0.000926424" "02326" "PKD1_000086" "g.2140180G>A" "" "" "" "PKD1(NM_001009944.2):c.12460C>T (p.R4154C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914505" "0" "90" "16" "2140390" "2140390" "del" "0" "02326" "NTHL1_000330" "g.2140390del" "" "" "" "PKD1(NM_001009944.2):c.12340delC (p.R4114Vfs*84)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914506" "0" "30" "16" "2140601" "2140601" "subst" "0" "01804" "NTHL1_000331" "g.2140601A>G" "" "" "" "PKD1(NM_001009944.2):c.12139-10T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914507" "0" "30" "16" "2140603" "2140603" "subst" "0.000341717" "02326" "NTHL1_000332" "g.2140603G>A" "" "" "" "PKD1(NM_001009944.2):c.12139-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914508" "0" "30" "16" "2140912" "2140912" "subst" "4.95879E-6" "02326" "PKD1_002891" "g.2140912G>A" "" "" "" "PKD1(NM_001009944.2):c.11976C>T (p.A3992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914509" "0" "30" "16" "2141184" "2141184" "subst" "0.00047083" "02326" "PKD1_001352" "g.2141184G>T" "" "" "" "PKD1(NM_001009944.2):c.11713-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926163" "0" "90" "16" "2097709" "2097709" "subst" "0" "02327" "NTHL1_000230" "g.2097709C>T" "" "" "" "NTHL1(NM_002528.7):c.115+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926164" "0" "30" "16" "2103392" "2103392" "subst" "0.00100189" "02325" "TSC2_000963" "g.2103392A>T" "" "" "" "TSC2(NM_000548.3):c.275A>T (p.(Glu92Val), p.E92V), TSC2(NM_000548.5):c.275A>T (p.E92V), TSC2(NM_001114382.2):c.275A>T (p.E92V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926165" "0" "30" "16" "2114406" "2114406" "subst" "5.28189E-5" "02330" "TSC2_002679" "g.2114406G>C" "" "" "" "TSC2(NM_000548.5):c.1577G>C (p.S526T), TSC2(NM_001114382.2):c.1577G>C (p.S526T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926166" "0" "50" "16" "2120500" "2120500" "subst" "0" "02327" "TSC2_003476" "g.2120500A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000926167" "0" "30" "16" "2121811" "2121811" "subst" "0.000283472" "02330" "TSC2_002020" "g.2121811A>C" "" "" "" "TSC2(NM_000548.5):c.1973A>C (p.K658T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926168" "0" "50" "16" "2122913" "2122913" "subst" "0" "02325" "TSC2_001324" "g.2122913T>A" "" "" "" "TSC2(NM_000548.5):c.2284T>A (p.L762M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000926170" "0" "30" "16" "2127595" "2127595" "subst" "0.0008537" "02329" "TSC2_000488" "g.2127595A>G" "" "" "" "TSC2(NM_000548.5):c.2838-4A>G, TSC2(NM_001114382.2):c.2838-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926171" "0" "50" "16" "2134470" "2134493" "del" "0" "02329" "TSC2_004311" "g.2134470_2134493del" "" "" "" "TSC2(NM_000548.5):c.4247_4270delCCCGGTCACAGTCAGGGACCCTGG (p.A1416_L1423del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000926172" "0" "10" "16" "2138219" "2138219" "subst" "0.00311057" "02329" "TSC2_000297" "g.2138219C>T" "" "" "" "PKD1(NM_001009944.3):c.*1509G>A, TSC2(NM_000548.3):c.5161-9C>T, TSC2(NM_000548.5):c.5161-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926173" "0" "30" "16" "2139740" "2139740" "subst" "7.17573E-5" "02326" "NTHL1_000336" "g.2139740G>A" "" "" "" "PKD1(NM_001009944.2):c.12900C>T (p.P4300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926174" "0" "50" "16" "2139999" "2139999" "subst" "2.55413E-5" "01804" "NTHL1_000337" "g.2139999C>T" "" "" "" "PKD1(NM_001009944.2):c.12641G>A (p.(Arg4214His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926175" "0" "30" "16" "2140432" "2140432" "subst" "0" "01804" "NTHL1_000338" "g.2140432G>T" "" "" "" "PKD1(NM_001009944.2):c.12298C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926176" "0" "30" "16" "2140460" "2140460" "subst" "0.000486535" "01804" "PKD1_001271" "g.2140460G>C" "" "" "" "PKD1(NM_000296.3):c.12267C>G (p.(Leu4089=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926177" "0" "50" "16" "2140512" "2140512" "subst" "3.78973E-5" "01804" "NTHL1_000339" "g.2140512G>A" "" "" "" "PKD1(NM_000296.3):c.12215C>T (p.(Thr4072Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926178" "0" "90" "16" "2140689" "2140689" "subst" "0" "02326" "PKD1_000003" "g.2140689G>A" "" "" "" "PKD1(NM_001009944.2):c.12124C>T (p.Q4042*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926179" "0" "90" "16" "2140800" "2140800" "subst" "0" "01804" "PKD1_000055" "g.2140800G>A" "" "" "" "PKD1(NM_001009944.2):c.12013C>T (p.(Gln4005*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926180" "0" "70" "16" "2140811" "2140811" "subst" "0" "01804" "NTHL1_000340" "g.2140811T>A" "" "" "" "PKD1(NM_001009944.2):c.12004-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926181" "0" "50" "16" "2143636" "2143636" "subst" "0" "02326" "NTHL1_000341" "g.2143636C>G" "" "" "" "PKD1(NM_001009944.2):c.10925G>C (p.R3642P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930526" "0" "30" "16" "2120585" "2120585" "subst" "0.000432311" "02329" "TSC2_000425" "g.2120585G>A" "" "" "" "TSC2(NM_000548.3):c.1839+6G>A, TSC2(NM_000548.5):c.1839+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930527" "0" "10" "16" "2122868" "2122868" "subst" "0.00118286" "02326" "TSC2_000449" "g.2122868C>T" "" "" "" "TSC2(NM_000548.3):c.2239C>T (p.L747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930528" "0" "10" "16" "2129045" "2129045" "subst" "0.000863178" "02329" "TSC2_000491" "g.2129045G>A" "" "" "" "TSC2(NM_000548.3):c.2979G>A (p.T993=, p.(Thr993=)), TSC2(NM_000548.5):c.2979G>A (p.T993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930529" "0" "30" "16" "2135260" "2135260" "subst" "2.03654E-5" "02329" "TSC2_004069" "g.2135260C>T" "" "" "" "TSC2(NM_000548.3):c.4599C>T (p.L1533=), TSC2(NM_000548.5):c.4599C>T (p.L1533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930530" "0" "30" "16" "2140085" "2140085" "subst" "4.16022E-6" "01804" "NTHL1_000342" "g.2140085C>G" "" "" "" "PKD1(NM_000296.3):c.12552G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930531" "0" "10" "16" "2140454" "2140454" "subst" "0.186045" "02325" "PKD1_000780" "g.2140454T>C" "" "" "" "PKD1(NM_001009944.3):c.12276A>G (p.A4092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930533" "0" "90" "16" "2140944" "2140944" "subst" "0" "01804" "PKD1_000320" "g.2140944G>A" "" "" "" "PKD1(NM_001009944.2):c.11944C>T (p.(Gln3982Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930534" "0" "30" "16" "2141520" "2141520" "subst" "0.00138194" "02326" "PKD1_001370" "g.2141520C>T" "" "" "" "PKD1(NM_001009944.2):c.11616G>A (p.E3872=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930535" "0" "30" "16" "2141796" "2141796" "subst" "0.00162928" "01804" "PKD1_001387" "g.2141796G>A" "" "" "" "PKD1(NM_000296.3):c.11520C>T (p.(Asn3840=)), PKD1(NM_001009944.2):c.11523C>T (p.N3841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930536" "0" "30" "16" "2142103" "2142103" "subst" "0.000530149" "02326" "PKD1_002853" "g.2142103C>G" "" "" "" "PKD1(NM_000296.3):c.11353G>C (p.(Glu3785Gln)), PKD1(NM_001009944.2):c.11356G>C (p.E3786Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930537" "0" "50" "16" "2143591" "2143591" "subst" "0" "01804" "NTHL1_000343" "g.2143591G>A" "" "" "" "PKD1(NM_001009944.2):c.10970C>T (p.(Ala3657Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950538" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "01804" "NTHL1_000001" "g.2096239G>A" "" "" "" "NTHL1(NM_001318193.1):c.268C>T (p.(Gln90Ter)), NTHL1(NM_002528.7):c.244C>T (p.Q82*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950539" "0" "10" "16" "2096384" "2096384" "subst" "0.0026114" "02329" "NTHL1_000008" "g.2096384G>A" "" "" "" "NTHL1(NM_002528.7):c.116-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950540" "0" "50" "16" "2098279" "2098279" "subst" "7.08175E-6" "02325" "TSC2_001513" "g.2098279A>G" "" "" "" "TSC2(NM_000548.5):c.-30+213A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000950541" "0" "10" "16" "2098578" "2098578" "subst" "0.000752528" "02329" "TSC2_003022" "g.2098578G>C" "" "" "" "TSC2(NM_000548.3):c.-29-10G>C, TSC2(NM_000548.5):c.-29-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950542" "0" "30" "16" "2103368" "2103368" "subst" "0.000326174" "02329" "TSC2_000718" "g.2103368C>T" "" "" "" "TSC2(NM_000548.3):c.251C>T (p.A84V), TSC2(NM_000548.5):c.251C>T (p.A84V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950543" "0" "90" "16" "2105417" "2105417" "subst" "0" "02329" "TSC2_000080" "g.2105417C>T" "" "" "" "TSC2(NM_000548.3):c.496C>T (p.Q166*), TSC2(NM_000548.5):c.496C>T (p.Q166*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950544" "0" "30" "16" "2105506" "2105506" "subst" "1.62425E-5" "02329" "TSC2_001456" "g.2105506C>T" "" "" "" "TSC2(NM_000548.5):c.585C>T (p.I195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950545" "0" "50" "16" "2105507" "2105507" "subst" "3.24852E-5" "02325" "TSC2_000356" "g.2105507G>A" "" "" "" "TSC2(NM_000548.3):c.586G>A (p.A196T), TSC2(NM_000548.5):c.586G>A (p.(Ala196Thr), p.A196T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950546" "0" "50" "16" "2106741" "2106741" "subst" "4.09675E-6" "02325" "TSC2_001984" "g.2106741G>A" "" "" "" "TSC2(NM_000548.5):c.745G>A (p.V249I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000950547" "0" "10" "16" "2108724" "2108724" "subst" "0.00024052" "02329" "TSC2_002335" "g.2108724C>T" "" "" "" "TSC2(NM_000548.3):c.849-24C>T, TSC2(NM_000548.5):c.849-24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950548" "0" "30" "16" "2113058" "2113058" "subst" "0.000154541" "02326" "TSC2_000698" "g.2113058C>T" "" "" "" "TSC2(NM_000548.3):c.1443+4C>T, TSC2(NM_000548.5):c.1443+4C>T, TSC2(NM_001114382.2):c.1443+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950549" "0" "10" "16" "2132422" "2132422" "subst" "0.00208155" "02329" "TSC2_000536" "g.2132422G>A" "" "" "" "TSC2(NM_000548.3):c.3815-15G>A, TSC2(NM_000548.5):c.3815-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950550" "0" "50" "16" "2136246" "2136246" "subst" "4.07382E-6" "02325" "TSC2_004808" "g.2136246C>T" "" "" "" "TSC2(NM_000548.5):c.4715C>T (p.T1572M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000950551" "0" "30" "16" "2136725" "2136725" "subst" "0" "02329" "TSC2_004810" "g.2136725A>C" "" "" "" "TSC2(NM_000548.5):c.4850-8A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000950552" "0" "10" "16" "2137902" "2137902" "subst" "0.000407734" "02329" "TSC2_000631" "g.2137902G>A" "" "" "" "TSC2(NM_000548.3):c.5028G>A (p.L1676=), TSC2(NM_000548.5):c.5028G>A (p.L1676=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950554" "0" "30" "16" "2138499" "2138499" "subst" "0.000179168" "02330" "TSC2_001136" "g.2138499C>T" "" "" "" "TSC2(NM_000548.5):c.5312C>T (p.P1771L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950555" "0" "30" "16" "2139989" "2139989" "subst" "0.000547888" "02326" "PKD1_001212" "g.2139989G>A" "" "" "" "PKD1(NM_001009944.2):c.12651C>T (p.A4217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950556" "0" "30" "16" "2140148" "2140148" "subst" "1.2986E-5" "02326" "PKD1_002899" "g.2140148G>A" "" "" "" "PKD1(NM_000296.3):c.12489C>T (p.(Arg4163=)), PKD1(NM_001009944.2):c.12492C>T (p.R4164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950557" "0" "10" "16" "2140954" "2140954" "subst" "0.000910853" "02326" "PKD1_001327" "g.2140954G>A" "" "" "" "PKD1(NM_001009944.2):c.11934C>T (p.D3978=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950558" "0" "90" "16" "2141025" "2141025" "subst" "0" "02327" "PKD1_000321" "g.2141025G>A" "" "" "" "PKD1(NM_001009944.2):c.11863C>T (p.Q3955*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950559" "0" "90" "16" "2141025" "2141025" "subst" "0" "02326" "PKD1_000321" "g.2141025G>A" "" "" "" "PKD1(NM_001009944.2):c.11863C>T (p.Q3955*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950560" "0" "90" "16" "2141122" "2141122" "subst" "0" "01804" "PKD1_000323" "g.2141122C>T" "" "" "" "PKD1(NM_001009944.2):c.11766G>A (p.(Trp3922Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000968159" "0" "30" "16" "2103467" "2103467" "subst" "0" "02329" "TSC2_001452" "g.2103467C>T" "" "" "" "TSC2(NM_000548.5):c.336+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968163" "0" "30" "16" "2110765" "2110765" "subst" "0.000446936" "01943" "TSC2_002016" "g.2110765C>T" "" "" "" "TSC2(NM_000548.3):c.1070C>T (p.A357V, p.(Ala357Val)), TSC2(NM_000548.5):c.1070C>T (p.A357V), TSC2(NM_001114382.2):c.1070C>T (p.A357V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968166" "0" "30" "16" "2112516" "2112516" "subst" "0.00118043" "01943" "TSC2_000063" "g.2112516C>T" "" "" "" "TSC2(NM_000548.3):c.1276C>T (p.L426=), TSC2(NM_000548.5):c.1276C>T (p.L426=, p.(Leu426=)), TSC2(NM_001114382.2):c.1276C>T (p.L426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968167" "0" "30" "16" "2115651" "2115651" "subst" "4.90882E-5" "02329" "TSC2_003534" "g.2115651C>T" "" "" "" "TSC2(NM_000548.5):c.1716+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000968168" "0" "30" "16" "2120559" "2120559" "subst" "0.000651238" "02329" "TSC2_000008" "g.2120559G>A" "" "" "" "TSC2(NM_000548.3):c.1819G>A (p.A607T), TSC2(NM_000548.5):c.1819G>A (p.A607T), TSC2(NM_001114382.2):c.1819G>A (p.A607T), TSC2(NM_001114382.3):c.1819..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968169" "0" "50" "16" "2120559" "2120559" "subst" "0.000651238" "01943" "TSC2_000008" "g.2120559G>A" "" "" "" "TSC2(NM_000548.3):c.1819G>A (p.A607T), TSC2(NM_000548.5):c.1819G>A (p.A607T), TSC2(NM_001114382.2):c.1819G>A (p.A607T), TSC2(NM_001114382.3):c.1819..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968170" "0" "10" "16" "2121911" "2121911" "subst" "0.000938692" "02326" "TSC2_000435" "g.2121911C>T" "" "" "" "TSC2(NM_000548.3):c.2073C>T (p.R691=), TSC2(NM_000548.5):c.2073C>T (p.R691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000968172" "0" "10" "16" "2124416" "2124416" "subst" "0.00281194" "02329" "TSC2_000468" "g.2124416G>A" "" "" "" "TSC2(NM_000548.3):c.2545+26G>A, TSC2(NM_000548.5):c.2545+26G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000968173" "0" "30" "16" "2126499" "2126499" "subst" "8.53749E-5" "02329" "TSC2_002364" "g.2126499G>A" "" "" "" "TSC2(NM_000548.3):c.2750G>A (p.R917Q), TSC2(NM_000548.5):c.2750G>A (p.R917Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968177" "0" "30" "16" "2134208" "2134208" "subst" "8.93325E-5" "02329" "TSC2_002379" "g.2134208C>T" "" "" "" "TSC2(NM_000548.3):c.4006-21C>T, TSC2(NM_000548.5):c.4006-21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968178" "0" "50" "16" "2134985" "2134987" "del" "0" "01804" "TSC2_000017" "g.2134985_2134987del" "" "" "" "TSC2(NM_000548.3):c.4527_4529del (p.(Phe1510del)), TSC2(NM_000548.3):c.4527_4529delCTT (p.F1510del), TSC2(NM_000548.5):c.4527_4529delCTT (p.F1510d...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968179" "0" "30" "16" "2137857" "2137857" "subst" "0.00229678" "01943" "TSC2_000629" "g.2137857C>T" "" "" "" "TSC2(NM_000548.3):c.4990-7C>T (p.(=)), TSC2(NM_001114382.2):c.4921-7C>T, TSC2(NM_001370404.1):c.4858-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968180" "0" "50" "16" "2138240" "2138240" "subst" "0" "02329" "TSC2_004812" "g.2138240G>A" "" "" "" "TSC2(NM_000548.5):c.5173G>A (p.V1725M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000968181" "0" "10" "16" "2138508" "2138508" "subst" "0.00233816" "02330" "TSC2_000891" "g.2138508G>C" "" "" "" "TSC2(NM_000548.3):c.5321G>C (p.S1774T), TSC2(NM_000548.5):c.5321G>C (p.S1774T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000968183" "0" "30" "16" "2139824" "2139824" "subst" "0.000257003" "02326" "NTHL1_000351" "g.2139824G>A" "" "" "" "PKD1(NM_001009944.2):c.12816C>T (p.S4272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968184" "0" "10" "16" "2140269" "2140269" "dup" "0" "01804" "PKD1_001248" "g.2140269dup" "" "" "" "MIR1225(NR_030646.1):n.23dup (-)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000968185" "0" "90" "16" "2140782" "2140782" "subst" "0" "01804" "PKD1_000044" "g.2140782G>A" "" "" "" "PKD1(NM_001009944.2):c.12031C>T (p.(Gln4011Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000968188" "0" "30" "16" "2143546" "2143546" "subst" "0.000429801" "02326" "PKD1_000594" "g.2143546C>T" "" "" "" "LOC105371049(NR_135175.1):n.303+533C>T, PKD1(NM_000296.3):c.11012G>A (p.(Arg3671Gln)), PKD1(NM_001009944.2):c.11015G>A (p.R3672Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981680" "0" "50" "16" "2090008" "2090008" "subst" "2.47095E-5" "02329" "NTHL1_000014" "g.2090008C>T" "" "" "" "NTHL1(NM_002528.7):c.832G>A (p.G278S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981681" "0" "50" "16" "2090179" "2090179" "subst" "0.000105628" "02325" "NTHL1_000241" "g.2090179T>C" "" "" "" "NTHL1(NM_001318193.1):c.599A>G (p.(Lys200Arg)), NTHL1(NM_002528.7):c.746A>G (p.K249R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981682" "0" "30" "16" "2094653" "2094653" "subst" "0.00195319" "02329" "NTHL1_000012" "g.2094653A>G" "" "" "" "NTHL1(NM_001318194.1):c.173T>C (p.(Ile58Thr)), NTHL1(NM_002528.7):c.503T>C (p.I168T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981684" "0" "10" "16" "2096384" "2096384" "subst" "0.0026114" "02326" "NTHL1_000008" "g.2096384G>A" "" "" "" "NTHL1(NM_002528.7):c.116-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000981688" "0" "30" "16" "2105507" "2105507" "subst" "3.24852E-5" "01804" "TSC2_000356" "g.2105507G>A" "" "" "" "TSC2(NM_000548.3):c.586G>A (p.A196T), TSC2(NM_000548.5):c.586G>A (p.(Ala196Thr), p.A196T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981689" "0" "30" "16" "2105541" "2105541" "subst" "4.06101E-6" "02329" "TSC2_001979" "g.2105541C>G" "" "" "" "TSC2(NM_000548.5):c.599+21C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000981690" "0" "50" "16" "2105907" "2105908" "ins" "0" "01804" "TSC2_001980" "g.2105907_2105908insT" "" "" "" "TSC2(NM_001318831.2):c.-1-290_-1-289insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000981692" "0" "30" "16" "2110710" "2110710" "subst" "2.03069E-5" "02329" "TSC2_001986" "g.2110710G>A" "" "" "" "TSC2(NM_000548.5):c.1015G>A (p.V339I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000981693" "0" "30" "16" "2110765" "2110765" "subst" "0.000446936" "02326" "TSC2_002016" "g.2110765C>T" "" "" "" "TSC2(NM_000548.3):c.1070C>T (p.A357V, p.(Ala357Val)), TSC2(NM_000548.5):c.1070C>T (p.A357V), TSC2(NM_001114382.2):c.1070C>T (p.A357V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981694" "0" "30" "16" "2110823" "2110823" "subst" "0" "01804" "TSC2_001987" "g.2110823G>C" "" "" "" "TSC2(NM_000548.5):c.1119+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000981695" "0" "30" "16" "2112516" "2112516" "subst" "0.00118043" "01804" "TSC2_000063" "g.2112516C>T" "" "" "" "TSC2(NM_000548.3):c.1276C>T (p.L426=), TSC2(NM_000548.5):c.1276C>T (p.L426=, p.(Leu426=)), TSC2(NM_001114382.2):c.1276C>T (p.L426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981696" "0" "30" "16" "2112968" "2112968" "subst" "2.0326E-5" "01804" "TSC2_001988" "g.2112968C>T" "" "" "" "TSC2(NM_000548.5):c.1362-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000981697" "0" "50" "16" "2115578" "2115578" "subst" "8.14657E-6" "01804" "TSC2_001991" "g.2115578A>G" "" "" "" "TSC2(NM_000548.5):c.1658A>G (p.(Tyr553Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000981700" "0" "30" "16" "2121811" "2121811" "subst" "0.000283472" "02329" "TSC2_002020" "g.2121811A>C" "" "" "" "TSC2(NM_000548.5):c.1973A>C (p.K658T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981701" "0" "30" "16" "2122396" "2122396" "del" "0" "02329" "TSC2_000548" "g.2122396del" "" "" "" "TSC2(NM_000548.3):c.2220+32delG, TSC2(NM_000548.5):c.2220+32delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981702" "0" "30" "16" "2124272" "2124272" "subst" "0.000183152" "01804" "TSC2_002207" "g.2124272C>T" "" "" "" "TSC2(NM_000548.3):c.2427C>T (p.S809=), TSC2(NM_000548.5):c.2427C>T (p.S809=, p.(Ser809=)), TSC2(NM_001114382.2):c.2427C>T (p.S809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981703" "0" "30" "16" "2125819" "2125819" "subst" "0.000346074" "02329" "TSC2_001472" "g.2125819C>T" "" "" "" "TSC2(NM_000548.5):c.2565C>T (p.H855=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981704" "0" "30" "16" "2125837" "2125837" "subst" "3.25526E-5" "02329" "TSC2_003480" "g.2125837C>T" "" "" "" "TSC2(NM_000548.5):c.2583C>T (p.A861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000981705" "0" "70" "16" "2126143" "2126143" "subst" "0" "02327" "TSC2_000134" "g.2126143G>A" "" "" "" "TSC2(NM_000548.3):c.2714G>A (p.R905Q), TSC2(NM_000548.5):c.2714G>A (p.R905Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981706" "0" "50" "16" "2126583" "2126583" "subst" "0" "01804" "TSC2_003874" "g.2126583A>G" "" "" "" "TSC2(NM_000548.3):c.2834A>G (p.K945R, p.(Lys945Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981707" "0" "30" "16" "2127724" "2127724" "subst" "6.9269E-5" "02326" "TSC2_002021" "g.2127724G>C" "" "" "" "TSC2(NM_000548.3):c.2963G>C (p.R988P), TSC2(NM_000548.5):c.2963G>C (p.R988P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981708" "0" "30" "16" "2130387" "2130387" "subst" "0.000561737" "01804" "TSC2_000317" "g.2130387C>T" "" "" "" "TSC2(NM_000548.3):c.3610+9C>T, TSC2(NM_000548.5):c.3610+9C>T, TSC2(NM_001114382.2):c.3610+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981709" "0" "30" "16" "2133727" "2133727" "subst" "0.00475155" "01804" "TSC2_000091" "g.2133727G>A" "" "" "" "TSC2(NM_000548.3):c.3915G>A (p.P1305=, p.(Pro1305=)), TSC2(NM_000548.5):c.3915G>A (p.P1305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981710" "0" "30" "16" "2134328" "2134328" "subst" "0.000253707" "01804" "TSC2_000558" "g.2134328C>T" "" "" "" "TSC2(NM_000548.5):c.4105C>T (p.R1369W, p.(Arg1369Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981711" "0" "30" "16" "2134359" "2134359" "subst" "2.45278E-5" "01804" "TSC2_002068" "g.2134359C>T" "" "" "" "TSC2(NM_000548.3):c.4136C>T (p.S1379L), TSC2(NM_000548.5):c.4136C>T (p.(Ser1379Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981712" "0" "50" "16" "2134536" "2134536" "subst" "1.27261E-5" "02325" "TSC2_000576" "g.2134536G>A" "" "" "" "TSC2(NM_000548.5):c.4313G>A (p.R1438Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981713" "0" "90" "16" "2136215" "2136215" "del" "0" "02329" "TSC2_004807" "g.2136215del" "" "" "" "TSC2(NM_000548.5):c.4684delC (p.L1562Cfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000981714" "0" "30" "16" "2136326" "2136326" "subst" "4.07914E-5" "01804" "TSC2_003405" "g.2136326G>A" "" "" "" "TSC2(NM_000548.5):c.4795G>A (p.(Val1599Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981715" "0" "10" "16" "2136866" "2136866" "subst" "0.00524021" "01804" "TSC2_000094" "g.2136866C>T" "" "" "" "TSC2(NM_000548.3):c.4983C>T (p.T1661=, p.(Thr1661=)), TSC2(NM_000548.5):c.4983C>T (p.T1661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000981716" "0" "30" "16" "2140154" "2140154" "subst" "0.000220793" "02326" "PKD1_001232" "g.2140154G>T" "" "" "" "PKD1(NM_001009944.2):c.12486C>A (p.P4162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981717" "0" "70" "16" "2140364" "2140364" "subst" "0" "01804" "NTHL1_000360" "g.2140364C>T" "" "" "" "PKD1(NM_001009944.2):c.12366G>A (p.(Trp4122Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981718" "0" "30" "16" "2140568" "2140568" "subst" "0.000126676" "01804" "NTHL1_000321" "g.2140568G>A" "" "" "" "PKD1(NM_000296.3):c.12159C>T (p.(Ser4053=)), PKD1(NM_001009944.2):c.12162C>T (p.S4054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981719" "0" "30" "16" "2140826" "2140826" "subst" "0.000209607" "02326" "NTHL1_000361" "g.2140826T>C" "" "" "" "PKD1(NM_001009944.2):c.12004-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981720" "0" "30" "16" "2141101" "2141101" "subst" "0" "01804" "NTHL1_000362" "g.2141101G>A" "" "" "" "PKD1(NM_000296.3):c.11784C>T (p.(Arg3928=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981721" "0" "70" "16" "2142501" "2142501" "subst" "4.11238E-6" "01804" "PKD1_000466" "g.2142501C>T" "" "" "" "PKD1(NM_000296.3):c.11246G>A (p.(Arg3749Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981722" "0" "50" "16" "2142956" "2142956" "subst" "0" "02326" "NTHL1_000327" "g.2142956G>A" "" "" "" "PKD1(NM_001009944.2):c.11155C>T (p.R3719W), PKD1(NM_001009944.3):c.11155C>T (p.R3719W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981723" "0" "50" "16" "2143589" "2143589" "subst" "0" "01804" "NTHL1_000363" "g.2143589T>C" "" "" "" "PKD1(NM_001009944.2):c.10972A>G (p.(Lys3658Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981724" "0" "70" "16" "2143596" "2143596" "subst" "0" "01804" "NTHL1_000364" "g.2143596G>T" "" "" "" "PKD1(NM_000296.3):c.10962C>A (p.(Phe3654Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981725" "0" "70" "16" "2143597" "2143597" "subst" "0" "01804" "NTHL1_000365" "g.2143597A>T" "" "" "" "PKD1(NM_001009944.2):c.10964T>A (p.(Phe3655Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981726" "0" "70" "16" "2143609" "2143609" "subst" "0" "02326" "PKD1_001492" "g.2143609C>T" "" "" "" "PKD1(NM_001009944.2):c.10952G>A (p.G3651D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001002013" "0" "50" "16" "2096209" "2096209" "subst" "0.000934762" "02329" "NTHL1_000006" "g.2096209G>A" "" "" "" "NTHL1(NM_002528.7):c.274C>T (p.R92C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002017" "0" "30" "16" "2100518" "2100519" "del" "0" "02329" "TSC2_000893" "g.2100518_2100519del" "" "" "" "TSC2(NM_000548.3):c.225+31_225+32delAG, TSC2(NM_000548.5):c.225+31_225+32delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002018" "0" "50" "16" "2104312" "2104312" "subst" "0" "01804" "NTHL1_000366" "g.2104312G>A" "" "" "" "TSC2(NM_000548.3):c.352G>A (p.(Val118Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002019" "0" "30" "16" "2105459" "2105459" "subst" "1.62422E-5" "02326" "TSC2_000616" "g.2105459C>G" "" "" "" "TSC2(NM_000548.3):c.538C>G (p.L180V), TSC2(NM_000548.5):c.538C>G (p.L180V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002022" "0" "30" "16" "2112553" "2112553" "subst" "0" "01804" "NTHL1_000367" "g.2112553A>G" "" "" "" "TSC2(NM_000548.3):c.1313A>G (p.(Lys438Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002024" "0" "30" "16" "2124318" "2124318" "subst" "8.1416E-6" "01804" "NTHL1_000368" "g.2124318G>C" "" "" "" "TSC2(NM_000548.3):c.2473G>C (p.(Val825Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002025" "0" "50" "16" "2127658" "2127658" "subst" "0" "02329" "NTHL1_000369" "g.2127658T>C" "" "" "" "TSC2(NM_000548.5):c.2897T>C (p.F966S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002026" "0" "50" "16" "2129397" "2129397" "subst" "0" "01804" "TSC2_000112" "g.2129397C>G" "" "" "" "TSC2(NM_000548.3):c.3252C>G (p.(Asp1084Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002027" "0" "30" "16" "2130198" "2130198" "subst" "0.00024421" "01804" "TSC2_001198" "g.2130198G>A" "" "" "" "TSC2(NM_000548.3):c.3430G>A (p.V1144M, p.(Val1144Met)), TSC2(NM_000548.5):c.3430G>A (p.V1144M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002028" "0" "10" "16" "2134508" "2134508" "subst" "0.00277811" "02326" "TSC2_000572" "g.2134508G>T" "" "" "" "TSC2(NM_000548.3):c.4285G>T (p.A1429S), TSC2(NM_000548.5):c.4285G>T (p.A1429S, p.(Ala1429Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001002029" "0" "30" "16" "2134521" "2134521" "subst" "0" "01804" "TSC2_001875" "g.2134521C>G" "" "" "" "TSC2(NM_000548.3):c.4298C>G (p.(Ser1433Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002030" "0" "30" "16" "2135003" "2135003" "subst" "0" "01804" "NTHL1_000370" "g.2135003C>G" "" "" "" "TSC2(NM_000548.3):c.4545C>G (p.(Asn1515Lys)), TSC2(NM_000548.5):c.4545C>G (p.N1515K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002031" "0" "50" "16" "2136746" "2136746" "subst" "0" "01804" "TSC2_001813" "g.2136746C>G" "" "" "" "TSC2(NM_000548.3):c.4863C>G (p.(Ile1621Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002032" "0" "10" "16" "2137891" "2137891" "subst" "0.000497204" "02325" "TSC2_000724" "g.2137891G>C" "" "" "" "TSC2(NM_000548.3):c.5017G>C (p.V1673L, p.(Val1673Leu)), TSC2(NM_000548.5):c.5017G>C (p.V1673L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001002033" "0" "50" "16" "2137909" "2137909" "subst" "6.92707E-5" "02329" "TSC2_002078" "g.2137909G>A" "" "" "" "TSC2(NM_000548.5):c.5035G>A (p.E1679K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002034" "0" "50" "16" "2138072" "2138072" "subst" "1.22109E-5" "01804" "NTHL1_000371" "g.2138072A>C" "" "" "" "TSC2(NM_000548.3):c.5092A>C (p.(Ser1698Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002035" "0" "70" "16" "2140320" "2140320" "subst" "0" "01804" "PKD1_000318" "g.2140320A>G" "" "" "" "PKD1(NM_001009944.2):c.12410T>C (p.(Leu4137Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001002036" "0" "30" "16" "2140448" "2140448" "subst" "4.15496E-6" "01804" "NTHL1_000372" "g.2140448C>T" "" "" "" "PKD1(NM_000296.3):c.12279G>A (p.(Arg4093=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002037" "0" "50" "16" "2140533" "2140533" "subst" "2.10986E-5" "02326" "NTHL1_000373" "g.2140533C>T" "" "" "" "PKD1(NM_001009944.2):c.12197G>A (p.C4066Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002038" "0" "50" "16" "2142112" "2142112" "subst" "0" "01804" "NTHL1_000374" "g.2142112C>G" "" "" "" "PKD1(NM_001009944.2):c.11347G>C (p.(Val3783Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002040" "0" "50" "16" "2142562" "2142562" "subst" "0" "01804" "NTHL1_000375" "g.2142562C>T" "" "" "" "PKD1(NM_001009944.2):c.11188G>A (p.(Val3730Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002041" "0" "90" "16" "2143104" "2143104" "subst" "0" "02326" "PKD1_001475" "g.2143104G>T" "" "" "" "PKD1(NM_001009944.2):c.11017-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015313" "0" "50" "16" "2090179" "2090179" "subst" "0.000105628" "01804" "NTHL1_000241" "g.2090179T>C" "" "" "" "NTHL1(NM_001318193.1):c.599A>G (p.(Lys200Arg)), NTHL1(NM_002528.7):c.746A>G (p.K249R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015314" "0" "50" "16" "2093737" "2093738" "del" "0.000172461" "02329" "NTHL1_000232" "g.2093737_2093738del" "" "" "" "NTHL1(NM_002528.7):c.526-11_526-10delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015315" "0" "90" "16" "2098752" "2098755" "del" "0" "02326" "NTHL1_000376" "g.2098752_2098755del" "" "" "" "TSC2(NM_000548.3):c.135_138delGAGA (p.R46Nfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015316" "0" "30" "16" "2104425" "2104425" "subst" "5.27893E-5" "02330" "TSC2_002122" "g.2104425C>T" "" "" "" "TSC2(NM_000548.3):c.465C>T (p.Y155=), TSC2(NM_000548.5):c.465C>T (p.Y155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015317" "0" "50" "16" "2105459" "2105459" "subst" "1.62422E-5" "02329" "TSC2_000616" "g.2105459C>G" "" "" "" "TSC2(NM_000548.3):c.538C>G (p.L180V), TSC2(NM_000548.5):c.538C>G (p.L180V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015318" "0" "90" "16" "2120533" "2120533" "subst" "0" "02329" "TSC2_000421" "g.2120533A>G" "" "" "" "TSC2(NM_000548.3):c.1793A>G (p.Y598C), TSC2(NM_000548.5):c.1793A>G (p.Y598C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015319" "0" "90" "16" "2120571" "2120571" "subst" "0" "02325" "TSC2_000053" "g.2120571C>T" "" "" "" "TSC2(NM_000548.3):c.1831C>T (p.R611W), TSC2(NM_000548.5):c.1831C>T (p.R611W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015320" "0" "50" "16" "2121785" "2121785" "subst" "1.29867E-5" "02325" "NTHL1_000377" "g.2121785G>A" "" "" "" "TSC2(NM_000548.5):c.1947G>A (p.M649I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015321" "0" "10" "16" "2124296" "2124296" "subst" "0.000948172" "02330" "TSC2_002359" "g.2124296C>T" "" "" "" "TSC2(NM_000548.3):c.2451C>T (p.D817=), TSC2(NM_000548.5):c.2451C>T (p.D817=), TSC2(NM_001114382.2):c.2451C>T (p.D817=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015322" "0" "30" "16" "2131755" "2131755" "subst" "0.00029353" "02329" "TSC2_000533" "g.2131755C>T" "" "" "" "TSC2(NM_000548.5):c.3770C>T (p.A1257V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015323" "0" "70" "16" "2131800" "2131800" "subst" "0" "02327" "NTHL1_000378" "g.2131800G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015324" "0" "30" "16" "2132449" "2132449" "subst" "0.000321674" "02329" "TSC2_000538" "g.2132449C>T" "" "" "" "TSC2(NM_000548.5):c.3827C>T (p.S1276F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015325" "0" "50" "16" "2133711" "2133711" "subst" "0" "02329" "NTHL1_000379" "g.2133711T>A" "" "" "" "TSC2(NM_000548.5):c.3899T>A (p.M1300K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015326" "0" "30" "16" "2133769" "2133769" "subst" "2.49781E-5" "02329" "NTHL1_000380" "g.2133769C>T" "" "" "" "TSC2(NM_000548.5):c.3957C>T (p.D1319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015327" "0" "10" "16" "2134230" "2134230" "subst" "0.000136486" "02330" "TSC2_002743" "g.2134230C>T" "" "" "" "TSC2(NM_000548.5):c.4007C>T (p.S1336L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015328" "0" "30" "16" "2134692" "2134692" "subst" "0.00019249" "02325" "TSC2_001291" "g.2134692A>G" "" "" "" "TSC2(NM_000548.5):c.4469A>G (p.E1490G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015329" "0" "30" "16" "2134723" "2134723" "subst" "0.000180369" "02329" "TSC2_002894" "g.2134723C>A" "" "" "" "TSC2(NM_000548.3):c.4493+7C>A, TSC2(NM_000548.5):c.4493+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015330" "0" "30" "16" "2136896" "2136896" "subst" "0" "02329" "NTHL1_000381" "g.2136896G>T" "" "" "" "TSC2(NM_000548.5):c.4989+24G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015331" "0" "30" "16" "2138200" "2138203" "del" "0" "02329" "TSC2_000307" "g.2138200_2138203del" "" "" "" "TSC2(NM_000548.3):c.5161-28_5161-25delTGAG, TSC2(NM_000548.5):c.5161-28_5161-25delTGAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015332" "0" "30" "16" "2138518" "2138518" "subst" "8.15069E-6" "02330" "TSC2_002322" "g.2138518T>C" "" "" "" "TSC2(NM_000548.3):c.5331T>C (p.P1777=), TSC2(NM_000548.5):c.5331T>C (p.P1777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015334" "0" "30" "16" "2142488" "2142488" "subst" "0.00494176" "01804" "PKD1_001438" "g.2142488C>G" "" "" "" "PKD1(NM_000296.3):c.11259G>C (p.(Leu3753=)), PKD1(NM_001009944.2):c.11262G>C (p.L3754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015335" "0" "50" "16" "2143641" "2143641" "subst" "0.000194691" "02327" "NTHL1_000306" "g.2143641G>A" "" "" "" "PKD1(NM_000296.3):c.10917C>T (p.(Ser3639=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026584" "0" "50" "16" "2090129" "2090129" "subst" "0" "02327" "NTHL1_000382" "g.2090129C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026585" "0" "30" "16" "2094602" "2094602" "subst" "4.27091E-5" "02329" "NTHL1_000383" "g.2094602C>T" "" "" "" "NTHL1(NM_002528.7):c.525+29G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026586" "0" "10" "16" "2103389" "2103389" "subst" "0.000903667" "02329" "TSC2_000346" "g.2103389C>T" "" "" "" "TSC2(NM_000548.3):c.272C>T (p.P91L), TSC2(NM_000548.5):c.272C>T (p.P91L), TSC2(NM_001370404.1):c.272C>T (p.P91L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026587" "0" "50" "16" "2105459" "2105459" "subst" "1.62422E-5" "02327" "TSC2_000616" "g.2105459C>G" "" "" "" "TSC2(NM_000548.3):c.538C>G (p.L180V), TSC2(NM_000548.5):c.538C>G (p.L180V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026588" "0" "50" "16" "2105484" "2105484" "subst" "0" "02326" "NTHL1_000384" "g.2105484G>A" "" "" "" "TSC2(NM_000548.3):c.563G>A (p.S188N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026589" "0" "30" "16" "2106616" "2106616" "subst" "0.000187924" "02329" "TSC2_003053" "g.2106616C>T" "" "" "" "TSC2(NM_000548.5):c.649-29C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026590" "0" "30" "16" "2108882" "2108882" "subst" "5.17273E-5" "02329" "TSC2_001129" "g.2108882G>A" "" "" "" "TSC2(NM_000548.5):c.975+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026591" "0" "30" "16" "2112017" "2112017" "subst" "1.62845E-5" "02326" "NTHL1_000385" "g.2112017C>A" "" "" "" "TSC2(NM_000548.3):c.1257+8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026592" "0" "30" "16" "2112948" "2112948" "subst" "0" "02329" "NTHL1_000386" "g.2112948G>A" "" "" "" "TSC2(NM_000548.5):c.1362-25G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026593" "0" "50" "16" "2112977" "2112977" "subst" "2.7019E-5" "02325" "TSC2_002017" "g.2112977G>A" "" "" "" "TSC2(NM_000548.3):c.1366G>A (p.E456K), TSC2(NM_000548.5):c.1366G>A (p.E456K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026594" "0" "30" "16" "2115498" "2115499" "dup" "0" "02329" "NTHL1_000387" "g.2115498_2115499dup" "" "" "" "TSC2(NM_000548.5):c.1600-22_1600-21dupAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026595" "0" "10" "16" "2121617" "2121617" "subst" "0.000317903" "02329" "TSC2_000429" "g.2121617T>C" "" "" "" "TSC2(NM_000548.3):c.1946T>C (p.M649T), TSC2(NM_000548.5):c.1946T>C (p.M649T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026596" "0" "30" "16" "2124384" "2124384" "subst" "0.000271052" "02329" "TSC2_001946" "g.2124384C>T" "" "" "" "TSC2(NM_000548.5):c.2539C>T (p.L847=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026597" "0" "30" "16" "2129316" "2129316" "subst" "4.06911E-6" "02329" "NTHL1_000388" "g.2129316C>G" "" "" "" "TSC2(NM_000548.5):c.3171C>G (p.T1057=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026598" "0" "50" "16" "2129658" "2129658" "subst" "1.92354E-5" "02325" "TSC2_001864" "g.2129658C>T" "" "" "" "TSC2(NM_000548.5):c.3385C>T (p.R1129C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026599" "0" "30" "16" "2130368" "2130368" "subst" "1.23132E-5" "02329" "TSC2_003177" "g.2130368G>A" "" "" "" "TSC2(NM_000548.5):c.3600G>A (p.R1200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026600" "0" "50" "16" "2133684" "2133684" "subst" "0" "02329" "TSC2_001636" "g.2133684G>A" "" "" "" "TSC2(NM_000548.5):c.3884-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026601" "0" "30" "16" "2134692" "2134692" "subst" "0.00019249" "02329" "TSC2_001291" "g.2134692A>G" "" "" "" "TSC2(NM_000548.5):c.4469A>G (p.E1490G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026602" "0" "50" "16" "2135003" "2135003" "subst" "0" "02325" "NTHL1_000370" "g.2135003C>G" "" "" "" "TSC2(NM_000548.3):c.4545C>G (p.(Asn1515Lys)), TSC2(NM_000548.5):c.4545C>G (p.N1515K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026603" "0" "90" "16" "2135267" "2135267" "subst" "0" "02329" "TSC2_000333" "g.2135267C>T" "" "" "" "TSC2(NM_000548.3):c.4606C>T (p.Q1536*), TSC2(NM_000548.5):c.4606C>T (p.Q1536*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026604" "0" "10" "16" "2137899" "2137899" "subst" "0.00103952" "02329" "TSC2_000630" "g.2137899G>A" "" "" "" "TSC2(NM_000548.3):c.5025G>A (p.P1675=), TSC2(NM_000548.5):c.5025G>A (p.P1675=), TSC2(NM_001370404.1):c.4893G>A (p.P1631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026605" "0" "30" "16" "2138102" "2138102" "subst" "0" "02329" "NTHL1_000389" "g.2138102C>T" "" "" "" "TSC2(NM_000548.5):c.5122C>T (p.L1708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026606" "0" "30" "16" "2138461" "2138461" "subst" "2.84991E-5" "02329" "TSC2_004431" "g.2138461C>T" "" "" "" "TSC2(NM_000548.3):c.5274C>T (p.A1758=), TSC2(NM_000548.5):c.5274C>T (p.A1758=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026607" "0" "90" "16" "2139901" "2139901" "subst" "0" "01804" "NTHL1_000390" "g.2139901G>A" "" "" "" "PKD1(NM_000296.3):c.12736C>T (p.(Gln4246Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026608" "0" "90" "16" "2141573" "2141574" "del" "0" "01804" "NTHL1_000391" "g.2141573_2141574del" "" "" "" "PKD1(NM_000296.3):c.11560_11561del (p.(Thr3854AlafsTer105))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026609" "0" "30" "16" "2141609" "2141609" "subst" "0.00151542" "01804" "PKD1_002850" "g.2141609G>A" "" "" "" "PKD1(NM_000296.3):c.11535-11C>T (p.(=)), PKD1(NM_001009944.2):c.11538-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026610" "0" "90" "16" "2141870" "2141870" "dup" "0" "01804" "PKD1_001396" "g.2141870dup" "" "" "" "PKD1(NM_000296.3):c.11450dup (p.(Tyr3818LeufsTer142)), PKD1(NM_001009944.2):c.11453dupG (p.Y3819Lfs*142)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026611" "0" "70" "16" "2142493" "2142493" "subst" "0" "01804" "PKD1_000070" "g.2142493G>A" "" "" "" "PKD1(NM_001009944.2):c.11257C>T (p.(Arg3753Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001026612" "0" "90" "16" "2143074" "2143075" "del" "0" "01804" "NTHL1_000392" "g.2143074_2143075del" "" "" "" "PKD1(NM_001009944.2):c.11039_11040del (p.(Phe3680SerfsTer41))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040893" "0" "30" "16" "2093698" "2093698" "subst" "8.17E-6" "02329" "NTHL1_000393" "g.2093698G>A" "" "" "" "NTHL1(NM_002528.7):c.555C>T (p.S185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040895" "0" "30" "16" "2097829" "2097829" "subst" "0.000109471" "02327" "NTHL1_000394" "g.2097829G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040896" "0" "30" "16" "2103375" "2103375" "subst" "8.74202E-5" "02326" "TSC2_001992" "g.2103375G>A" "" "" "" "TSC2(NM_000548.3):c.258G>A (p.A86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040897" "0" "30" "16" "2104304" "2104304" "subst" "6.09107E-5" "02326" "TSC2_001951" "g.2104304G>A" "" "" "" "TSC2(NM_000548.3):c.344G>A (p.R115H), TSC2(NM_000548.5):c.344G>A (p.R115H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040899" "0" "10" "16" "2107186" "2107186" "subst" "0.000743898" "01804" "TSC2_000898" "g.2107186G>A" "" "" "" "TSC2(NM_000548.5):c.848+7G>A, TSC2(NM_001114382.2):c.848+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040901" "0" "10" "16" "2108847" "2108847" "subst" "0.000793915" "02326" "TSC2_000933" "g.2108847G>A" "" "" "" "TSC2(NM_000548.3):c.948G>A (p.P316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040902" "0" "30" "16" "2108880" "2108880" "subst" "0" "01804" "NTHL1_000395" "g.2108880G>T" "" "" "" "TSC2(NM_000548.5):c.975+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040903" "0" "30" "16" "2112532" "2112532" "subst" "0.000288655" "01804" "TSC2_003292" "g.2112532C>T" "" "" "" "TSC2(NM_000548.5):c.1292C>T (p.(Ala431Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040906" "0" "30" "16" "2121912" "2121912" "subst" "2.43857E-5" "01804" "NTHL1_000396" "g.2121912G>A" "" "" "" "TSC2(NM_000548.5):c.2074G>A (p.(Val692Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040907" "0" "30" "16" "2122351" "2122351" "subst" "5.28378E-5" "02326" "NTHL1_000397" "g.2122351C>T" "" "" "" "TSC2(NM_000548.3):c.2207C>T (p.A736V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040909" "0" "30" "16" "2129044" "2129044" "subst" "3.6642E-5" "01804" "TSC2_001068" "g.2129044C>T" "" "" "" "TSC2(NM_000548.3):c.2978C>T (p.T993M), TSC2(NM_000548.5):c.2978C>T (p.T993M, p.(Thr993Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040910" "0" "50" "16" "2130319" "2130319" "subst" "2.03764E-5" "02325" "TSC2_004310" "g.2130319C>T" "" "" "" "TSC2(NM_000548.5):c.3551C>T (p.A1184V), TSC2(NM_001114382.2):c.3551C>T (p.A1184V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040911" "0" "50" "16" "2134438" "2134438" "subst" "0.00890403" "01804" "TSC2_000946" "g.2134438C>T" "" "" "" "TSC2(NM_000548.3):c.4215C>T (p.A1405=, p.(Ala1405=)), TSC2(NM_000548.5):c.4215C>T (p.A1405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040912" "0" "10" "16" "2134508" "2134508" "subst" "0.00277811" "01804" "TSC2_000572" "g.2134508G>T" "" "" "" "TSC2(NM_000548.3):c.4285G>T (p.A1429S), TSC2(NM_000548.5):c.4285G>T (p.A1429S, p.(Ala1429Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040913" "0" "50" "16" "2134649" "2134649" "subst" "0" "02325" "NTHL1_000398" "g.2134649G>C" "" "" "" "TSC2(NM_000548.5):c.4426G>C (p.E1476Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040914" "0" "90" "16" "2136795" "2136797" "del" "0" "01804" "TSC2_000872" "g.2136795_2136797del" "" "" "" "TSC2(NM_000548.3):c.4912_4914delAAG (p.K1638del), TSC2(NM_000548.5):c.4912_4914del (p.(Lys1638del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040915" "0" "30" "16" "2137857" "2137857" "subst" "0.00229678" "02326" "TSC2_000629" "g.2137857C>T" "" "" "" "TSC2(NM_000548.3):c.4990-7C>T (p.(=)), TSC2(NM_001114382.2):c.4921-7C>T, TSC2(NM_001370404.1):c.4858-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040916" "0" "50" "16" "2137891" "2137891" "subst" "0.000497204" "01804" "TSC2_000724" "g.2137891G>C" "" "" "" "TSC2(NM_000548.3):c.5017G>C (p.V1673L, p.(Val1673Leu)), TSC2(NM_000548.5):c.5017G>C (p.V1673L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040917" "0" "30" "16" "2138075" "2138075" "subst" "2.0352E-5" "01804" "TSC2_004433" "g.2138075G>A" "" "" "" "TSC2(NM_000548.5):c.5095G>A (p.V1699M, p.(Val1699Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040918" "0" "90" "16" "2138294" "2138294" "subst" "0" "02327" "TSC2_000329" "g.2138294C>T" "" "" "" "TSC2(NM_000548.3):c.5227C>T (p.R1743W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040919" "0" "30" "16" "2140660" "2140660" "subst" "0.000174382" "01804" "NTHL1_000399" "g.2140660C>T" "" "" "" "PKD1(NM_000296.3):c.12135+15G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040922" "0" "50" "16" "2141870" "2141870" "subst" "0" "02326" "NTHL1_000400" "g.2141870C>G" "" "" "" "PKD1(NM_001009944.2):c.11449G>C (p.G3817R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046539" "0" "50" "16" "2090177" "2090177" "subst" "7.31291E-5" "01804" "NTHL1_000401" "g.2090177A>T" "" "" "" "NTHL1(NM_001318193.1):c.601T>A (p.(Ser201Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046540" "0" "50" "16" "2096383" "2096383" "subst" "0.000617514" "01804" "NTHL1_000191" "g.2096383C>T" "" "" "" "NTHL1(NM_001318193.1):c.140-16G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046541" "0" "50" "16" "2097826" "2097826" "subst" "0" "01804" "NTHL1_000402" "g.2097826C>T" "" "" "" "NTHL1(NM_001318193.1):c.23G>A (p.(Gly8Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046542" "0" "90" "16" "2121933" "2121933" "subst" "0" "02326" "TSC2_000437" "g.2121933C>T" "" "" "" "TSC2(NM_000548.3):c.2095C>T (p.Q699*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046543" "0" "30" "16" "2124321" "2124321" "subst" "0.000663497" "02326" "TSC2_000132" "g.2124321C>A" "" "" "" "TSC2(NM_000548.3):c.2476C>A (p.L826M), TSC2(NM_000548.5):c.2476C>A (p.L826M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046544" "0" "50" "16" "2138117" "2138117" "subst" "4.07E-6" "02326" "NTHL1_000348" "g.2138117C>T" "" "" "" "TSC2(NM_000548.3):c.5137C>T (p.R1713C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046545" "0" "70" "16" "2140323" "2140323" "subst" "4.14024E-6" "02326" "NTHL1_000403" "g.2140323C>A" "" "" "" "PKD1(NM_001009944.2):c.12407G>T (p.R4136M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046546" "0" "30" "16" "2140705" "2140705" "subst" "9.06125E-5" "02326" "PKD1_001307" "g.2140705G>A" "" "" "" "PKD1(NM_001009944.2):c.12108C>T (p.L4036=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046547" "0" "30" "16" "2142071" "2142071" "subst" "0.000257639" "02326" "PKD1_000584" "g.2142071G>C" "" "" "" "PKD1(NM_001009944.2):c.11388C>G (p.A3796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046548" "0" "30" "16" "2142984" "2142984" "subst" "8.13643E-6" "01804" "NTHL1_000404" "g.2142984C>T" "" "" "" "PKD1(NM_001009944.2):c.11127G>A (p.(Leu3709=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046549" "0" "30" "16" "2143581" "2143581" "subst" "0" "01804" "NTHL1_000405" "g.2143581T>C" "" "" "" "PKD1(NM_000296.3):c.10977A>G (p.(Glu3659=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046550" "0" "70" "16" "2143603" "2143603" "subst" "0" "02326" "PKD1_001490" "g.2143603G>A" "" "" "" "PKD1(NM_001009944.2):c.10958C>T (p.A3653V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001048364" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "03779" "NTHL1_000001" "g.2096239G>A" "" "" "" "" "" "Unknown" "" "rs150766139" "0" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes NTHL1 ## Count = 1530 "{{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}}" "0000067049" "00014865" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Gln90*)" "2" "0000067050" "00014865" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Gln90*)" "2" "0000067051" "00014865" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Gln90*)" "2" "0000247360" "00014865" "30" "-5544" "0" "-5544" "0" "c.-5544T>A" "r.(?)" "p.(=)" "" "0000247361" "00014865" "30" "-29747" "0" "-29747" "0" "c.-29747T>C" "r.(?)" "p.(=)" "" "0000247365" "00014865" "10" "-40370" "0" "-40370" "0" "c.-40370T>G" "r.(?)" "p.(=)" "" "0000247391" "00014865" "30" "-15150" "0" "-15150" "0" "c.-15150T>C" "r.(?)" "p.(=)" "" "0000247396" "00014865" "30" "-29786" "0" "-29786" "0" "c.-29786T>C" "r.(?)" "p.(=)" "" "0000248110" "00014865" "30" "-29747" "0" "-29747" "0" "c.-29747T>C" "r.(?)" "p.(=)" "" "0000248169" "00014865" "50" "-7675" "0" "-7675" "0" "c.-7675T>C" "r.(?)" "p.(=)" "" "0000248181" "00014865" "10" "-40370" "0" "-40370" "0" "c.-40370T>G" "r.(?)" "p.(=)" "" "0000249399" "00014865" "30" "-23991" "0" "-23991" "0" "c.-23991T>C" "r.(?)" "p.(=)" "" "0000249461" "00014865" "30" "-16555" "0" "-16555" "0" "c.-16555T>C" "r.(?)" "p.(=)" "" "0000249827" "00014865" "50" "-6576" "0" "-6576" "0" "c.-6576T>C" "r.(?)" "p.(=)" "" "0000249930" "00014865" "30" "-5544" "0" "-5544" "0" "c.-5544T>A" "r.(?)" "p.(=)" "" "0000249939" "00014865" "30" "-32477" "0" "-32477" "0" "c.-32477T>C" "r.(?)" "p.(=)" "" "0000250563" "00014865" "50" "-27982" "0" "-27982" "0" "c.-27982T>G" "r.(?)" "p.(=)" "" "0000250884" "00014865" "10" "-40370" "0" "-40370" "0" "c.-40370T>G" "r.(?)" "p.(=)" "" "0000253154" "00014865" "10" "-5544" "0" "-5544" "0" "c.-5544T>A" "r.(?)" "p.(=)" "" "0000253163" "00014865" "10" "-32477" "0" "-32477" "0" "c.-32477T>C" "r.(?)" "p.(=)" "" "0000253482" "00014865" "10" "-17728" "0" "-17728" "0" "c.-17728T>C" "r.(?)" "p.(=)" "" "0000253573" "00014865" "10" "-17780" "0" "-17780" "0" "c.-17780T>C" "r.(?)" "p.(=)" "" "0000253581" "00014865" "10" "-36792" "0" "-36792" "0" "c.-36792T>G" "r.(?)" "p.(=)" "" "0000253625" "00014865" "10" "-10907" "0" "-10907" "0" "c.-10907T>C" "r.(?)" "p.(=)" "" "0000253658" "00014865" "10" "-42162" "0" "-42162" "0" "c.-42162T>C" "r.(?)" "p.(=)" "" "0000253723" "00014865" "10" "-40702" "0" "-40702" "0" "c.-40702T>A" "r.(?)" "p.(=)" "" "0000253890" "00014865" "10" "-24974" "0" "-24974" "0" "c.-24974T>C" "r.(?)" "p.(=)" "" "0000253891" "00014865" "10" "-29747" "0" "-29747" "0" "c.-29747T>G" "r.(?)" "p.(=)" "" "0000253892" "00014865" "10" "-31399" "0" "-31399" "0" "c.-31399T>C" "r.(?)" "p.(=)" "" "0000253893" "00014865" "10" "-37303" "0" "-37303" "0" "c.-37303T>C" "r.(?)" "p.(=)" "" "0000253894" "00014865" "10" "-38629" "0" "-38629" "0" "c.-38629del" "r.(?)" "p.(=)" "" "0000254100" "00014865" "30" "-29747" "0" "-29747" "0" "c.-29747T>C" "r.(?)" "p.(=)" "" "0000255301" "00014865" "30" "-2657" "0" "-2657" "0" "c.-2657T>C" "r.(?)" "p.(=)" "" "0000255302" "00014865" "30" "-31647" "0" "-31647" "0" "c.-31647T>C" "r.(?)" "p.(=)" "" "0000255417" "00014865" "90" "-14122" "0" "-14122" "0" "c.-14122T>C" "r.(?)" "p.(=)" "" "0000255426" "00014865" "90" "-37417" "0" "-37417" "0" "c.-37417T>G" "r.(?)" "p.(=)" "" "0000255440" "00014865" "90" "-14139" "0" "-14139" "0" "c.-14139T>A" "r.(?)" "p.(=)" "" "0000255454" "00014865" "90" "-9316" "0" "-9316" "0" "c.-9316T>G" "r.(?)" "p.(=)" "" "0000255465" "00014865" "90" "-28258" "0" "-28258" "0" "c.-28258del" "r.(?)" "p.(=)" "" "0000255468" "00014865" "90" "-802" "0" "-802" "0" "c.-802T>A" "r.(?)" "p.(=)" "" "0000255477" "00014865" "90" "-38947" "0" "-38947" "0" "c.-38947T>A" "r.(?)" "p.(=)" "" "0000255509" "00014865" "90" "-787" "0" "-787" "0" "c.-787T>A" "r.(?)" "p.(=)" "" "0000255553" "00014865" "90" "-33807" "0" "-33807" "0" "c.-33807del" "r.(?)" "p.(=)" "" "0000255558" "00014865" "90" "-38963" "0" "-38963" "0" "c.-38963T>C" "r.(?)" "p.(=)" "" "0000255559" "00014865" "90" "-38987" "0" "-38987" "0" "c.-38987T>C" "r.(?)" "p.(=)" "" "0000255561" "00014865" "90" "-40410" "0" "-40410" "0" "c.-40410del" "r.(?)" "p.(=)" "" "0000255583" "00014865" "90" "-40083" "0" "-40083" "0" "c.-40083T>G" "r.(?)" "p.(=)" "" "0000255586" "00014865" "90" "-12965" "0" "-12965" "0" "c.-12965T>G" "r.(?)" "p.(=)" "" "0000255587" "00014865" "90" "-16489" "0" "-16489" "0" "c.-16489del" "r.(?)" "p.(=)" "" "0000255600" "00014865" "90" "-904" "0" "-904" "0" "c.-904T>A" "r.(?)" "p.(=)" "" "0000255622" "00014865" "90" "-32527" "0" "-32527" "0" "c.-32527T>G" "r.(?)" "p.(=)" "" "0000255667" "00014865" "90" "-22685" "0" "-22685" "0" "c.-22685T>C" "r.(?)" "p.(=)" "" "0000255700" "00014865" "90" "-6447" "0" "-6447" "0" "c.-6447T>C" "r.(?)" "p.(=)" "" "0000255701" "00014865" "90" "-6447" "0" "-6447" "0" "c.-6447T>A" "r.(?)" "p.(=)" "" "0000255702" "00014865" "90" "-8347" "0" "-8347" "0" "c.-8347T>C" "r.(?)" "p.(=)" "" "0000255703" "00014865" "90" "-15123" "0" "-15123" "0" "c.-15123T>C" "r.(?)" "p.(=)" "" "0000255704" "00014865" "90" "-16423" "0" "-16423" "0" "c.-16423T>C" "r.(?)" "p.(=)" "" "0000255705" "00014865" "90" "-23661" "0" "-23661" "0" "c.-23661T>C" "r.(?)" "p.(=)" "" "0000255706" "00014865" "90" "-24392" "0" "-24392" "0" "c.-24392T>C" "r.(?)" "p.(=)" "" "0000255707" "00014865" "90" "-25000" "0" "-25000" "0" "c.-25000T>C" "r.(?)" "p.(=)" "" "0000255708" "00014865" "90" "-26351" "0" "-26351" "0" "c.-26351T>G" "r.(?)" "p.(=)" "" "0000255709" "00014865" "90" "-28642" "0" "-28642" "0" "c.-28642T>C" "r.(?)" "p.(=)" "" "0000255710" "00014865" "90" "-36379" "0" "-36379" "0" "c.-36379T>C" "r.(?)" "p.(=)" "" "0000255711" "00014865" "90" "-37102" "0" "-37102" "0" "c.-37102T>G" "r.(?)" "p.(=)" "" "0000255712" "00014865" "90" "-38883" "0" "-38883" "0" "c.-38883T>C" "r.(?)" "p.(=)" "" "0000255713" "00014865" "90" "-40199" "0" "-40199" "0" "c.-40199T>C" "r.(?)" "p.(=)" "" "0000255807" "00014865" "50" "-7675" "0" "-7675" "0" "c.-7675T>C" "r.(?)" "p.(=)" "" "0000256168" "00014865" "50" "-12899" "0" "-12899" "0" "c.-12899T>C" "r.(?)" "p.(=)" "" "0000256204" "00014865" "50" "-28735" "0" "-28735" "0" "c.-28735T>C" "r.(?)" "p.(=)" "" "0000256718" "00014865" "50" "-15105" "0" "-15105" "0" "c.-15105T>C" "r.(?)" "p.(=)" "" "0000256719" "00014865" "50" "-24519" "0" "-24519" "0" "c.-24519T>G" "r.(?)" "p.(=)" "" "0000293267" "00014865" "30" "-13" "0" "-13" "0" "c.-13A>G" "r.(?)" "p.(=)" "" "0000293268" "00014865" "30" "958" "0" "958" "0" "c.*19C>T" "r.(=)" "p.(=)" "" "0000293269" "00014865" "10" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Ala46Val)" "" "0000293270" "00014865" "10" "139" "17" "139" "17" "c.139+17G>A" "r.(=)" "p.(=)" "" "0000293271" "00014865" "10" "140" "-17" "140" "-17" "c.140-17C>T" "r.(=)" "p.(=)" "" "0000293272" "00014865" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Gln90Ter)" "" "0000293273" "00014865" "30" "550" "-16" "550" "-16" "c.550-16C>G" "r.(=)" "p.(=)" "" "0000293780" "00014865" "10" "-40736" "0" "-40736" "0" "c.-40736C>G" "r.(?)" "p.(=)" "" "0000293781" "00014865" "10" "-40698" "0" "-40698" "0" "c.-40698C>T" "r.(?)" "p.(=)" "" "0000293782" "00014865" "30" "-40685" "0" "-40685" "0" "c.-40685G>A" "r.(?)" "p.(=)" "" "0000293783" "00014865" "30" "-40647" "0" "-40647" "0" "c.-40647G>A" "r.(?)" "p.(=)" "" "0000293784" "00014865" "30" "-40584" "0" "-40584" "0" "c.-40584G>A" "r.(?)" "p.(=)" "" "0000293785" "00014865" "10" "-40421" "0" "-40421" "0" "c.-40421A>G" "r.(?)" "p.(=)" "" "0000293786" "00014865" "30" "-40249" "0" "-40249" "0" "c.-40249C>T" "r.(?)" "p.(=)" "" "0000293787" "00014865" "30" "-40110" "0" "-40077" "0" "c.-40110_-40077del" "r.(?)" "p.(=)" "" "0000296987" "00014865" "50" "-40404" "0" "-40404" "0" "c.-40404G>A" "r.(?)" "p.(=)" "" "0000298878" "00014865" "50" "-41966" "0" "-41966" "0" "c.-41966C>T" "r.(?)" "p.(=)" "" "0000300796" "00014865" "10" "-44265" "0" "-44265" "0" "c.-44265C>T" "r.(?)" "p.(=)" "" "0000300798" "00014865" "90" "-43734" "0" "-43734" "0" "c.-43734del" "r.(?)" "p.(=)" "" "0000300801" "00014865" "10" "-43323" "0" "-43323" "0" "c.-43323G>T" "r.(?)" "p.(=)" "" "0000300802" "00014865" "90" "-42582" "0" "-42582" "0" "c.-42582del" "r.(?)" "p.(=)" "" "0000300803" "00014865" "30" "-42473" "0" "-42473" "0" "c.-42473C>T" "r.(?)" "p.(=)" "" "0000300804" "00014865" "10" "-42446" "0" "-42446" "0" "c.-42446G>A" "r.(?)" 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"p.(=)" "" "0000691978" "00014865" "30" "-45249" "0" "-45249" "0" "c.-45249C>T" "r.(?)" "p.(=)" "" "0000698049" "00014865" "70" "139" "1" "139" "1" "c.139+1G>A" "r.spl" "p.?" "" "0000698050" "00014865" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Gln90*)" "" "0000698071" "00014865" "70" "139" "1" "139" "1" "c.139+1G>A" "r.spl" "p.?" "" "0000698076" "00014865" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Gln90*)" "" "0000698080" "00014865" "70" "550" "-1" "550" "-1" "c.550-1G>A" "r.spl" "p.?" "" "0000698081" "00014865" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Gln90*)" "" "0000698082" "00014865" "70" "550" "-1" "550" "-1" "c.550-1G>A" "r.spl" "p.?" "" "0000698083" "00014865" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Gln90*)" "" "0000698084" "00014865" "70" "550" "-1" "550" "-1" "c.550-1G>A" "r.spl" "p.?" "" "0000698087" "00014865" "90" "268" "0" "268" "0" "c.268C>T" "r.?" "p.(Gln90*)" "" "0000698088" "00014865" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Gln90*)" "" "0000698089" "00014865" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Gln90*)" "" "0000698090" "00014865" "70" "550" "-1" "550" "-1" "c.550-1G>A" "r.spl" "p.?" "" "0000698091" "00014865" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Gln90*)" "" "0000698092" "00014865" "50" "527" "0" "527" "0" "c.527T>C" "r.(?)" "p.(Ile176Thr)" "" "0000698093" "00014865" "50" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Ala46Val)" "" "0000698094" "00014865" "50" "527" "0" "527" "0" "c.527T>C" "r.(?)" "p.(Ile176Thr)" "" "0000698095" "00014865" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Gln90*)" "" "0000698096" "00014865" "50" "373" "0" "373" "0" "c.373C>T" "r.(?)" "p.(Pro125Ser)" "" "0000698097" "00014865" "50" "527" "0" "527" "0" "c.527T>C" "r.(?)" "p.(Ile176Thr)" "" "0000725516" "00014865" "30" "550" "-11" "550" "-10" "c.550-11_550-10del" "r.(=)" "p.(=)" "" "0000725518" "00014865" "50" "-5544" "0" "-5544" "0" "c.-5544T>A" "r.(?)" "p.(=)" "" "0000725520" "00014865" "10" "-40009" "0" "-40009" "0" "c.-40009G>A" "r.(?)" "p.(=)" "" "0000725521" "00014865" "10" "-40051" "0" "-40051" "0" "c.-40051C>T" "r.(?)" "p.(=)" "" "0000725522" "00014865" "30" "-40193" "0" "-40193" "0" "c.-40193G>A" "r.(?)" "p.(=)" "" "0000725523" "00014865" "30" "-40376" "0" "-40376" "0" "c.-40376G>C" "r.(?)" "p.(=)" "" "0000725524" "00014865" "50" "-40717" "0" "-40717" "0" "c.-40717C>T" "r.(?)" "p.(=)" "" "0000725525" "00014865" "30" "-41846" "0" "-41846" "0" "c.-41846G>A" "r.(?)" "p.(=)" "" "0000725526" "00014865" "10" "-41865" "0" "-41865" "0" "c.-41865G>A" "r.(?)" "p.(=)" "" "0000725527" "00014865" "10" "-42023" "0" "-42023" "0" "c.-42023G>A" "r.(?)" "p.(=)" "" "0000725528" "00014865" "10" "-42162" "0" "-42162" "0" "c.-42162T>C" "r.(?)" "p.(=)" "" "0000725529" "00014865" "10" "-42473" "0" "-42473" "0" "c.-42473C>T" "r.(?)" "p.(=)" "" "0000725530" "00014865" "10" "-42606" "0" "-42606" "0" "c.-42606A>G" "r.(?)" "p.(=)" "" "0000725531" "00014865" "30" "-42612" "0" "-42612" "0" "c.-42612C>G" "r.(?)" "p.(=)" "" "0000725532" "00014865" "30" "-42687" "0" "-42687" "0" "c.-42687G>A" "r.(?)" "p.(=)" "" "0000725533" "00014865" "10" "-42706" "0" "-42706" "0" "c.-42706C>T" "r.(?)" "p.(=)" "" "0000725534" "00014865" "10" "-42832" "0" "-42832" "0" "c.-42832A>G" "r.(?)" "p.(=)" "" "0000725535" "00014865" "50" "-42932" "0" "-42932" "0" "c.-42932G>C" "r.(?)" "p.(=)" "" "0000725536" "00014865" "50" "-42946" "0" "-42946" "0" "c.-42946C>T" "r.(?)" "p.(=)" "" "0000725537" "00014865" "90" "-42955" "0" "-42955" "0" "c.-42955C>T" "r.(?)" "p.(=)" "" "0000725538" "00014865" "90" "-43062" "0" "-43062" "0" "c.-43062C>A" "r.(?)" "p.(=)" "" "0000725539" "00014865" "30" "-43323" "0" "-43323" "0" "c.-43323G>T" "r.(?)" "p.(=)" "" "0000725540" "00014865" "30" "-44079" "0" "-44079" "0" "c.-44079A>T" "r.(?)" "p.(=)" "" "0000725541" "00014865" "10" "-44640" "0" "-44640" "0" "c.-44640G>C" "r.(?)" "p.(=)" "" "0000725542" "00014865" "10" "-45094" "0" "-45094" "0" "c.-45094G>A" "r.(?)" "p.(=)" "" "0000725543" "00014865" "90" "-45107" "0" "-45107" "0" "c.-45107G>A" "r.(?)" "p.(=)" "" "0000725544" "00014865" "50" "-45249" "0" "-45249" "0" "c.-45249C>T" "r.(?)" "p.(=)" "" "0000725545" "00014865" "50" "-45698" "0" "-45698" "0" "c.-45698G>A" "r.(?)" "p.(=)" "" "0000783228" "00014865" "90" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Gln82*)" "" "0000807132" "00014865" "30" "770" "0" "770" "0" "c.770A>G" "r.(?)" "p.(Lys257Arg)" "" "0000807133" "00014865" "90" "550" "-1" "550" "-1" "c.550-1G>A" "r.spl?" "p.?" "" "0000807137" "00014865" "50" "-736" "0" "-736" "0" "c.-736T>G" "r.(?)" "p.(=)" "" "0000807139" "00014865" "50" "-2574" "0" "-2574" "0" "c.-2574G>A" "r.(?)" "p.(=)" "" "0000807140" "00014865" "50" "-12882" "0" "-12882" "0" "c.-12882G>T" "r.(?)" "p.(=)" "" "0000807141" "00014865" "10" "-15093" "0" "-15093" "0" "c.-15093G>C" "r.(?)" "p.(=)" "" "0000807142" "00014865" "50" "-15165" "0" "-15165" "0" "c.-15165C>T" "r.(?)" "p.(=)" "" "0000807144" "00014865" "50" "-23762" "0" "-23762" "0" "c.-23762C>T" "r.(?)" "p.(=)" "" "0000807145" "00014865" "30" "-24523" "0" "-24523" "0" "c.-24523A>C" "r.(?)" "p.(=)" "" "0000807146" "00014865" "50" "-27976" "0" "-27976" "0" "c.-27976T>C" "r.(?)" "p.(=)" "" "0000807147" "00014865" "50" "-31804" "0" "-31804" "0" "c.-31804G>A" "r.(?)" "p.(=)" "" "0000807148" "00014865" "30" "-32341" "0" "-32341" "0" "c.-32341C>T" "r.(?)" "p.(=)" "" "0000807149" "00014865" "50" "-36871" "0" "-36871" "0" "c.-36871C>T" "r.(?)" "p.(=)" "" "0000807150" "00014865" "30" "-37197" "0" "-37197" "0" "c.-37197G>A" "r.(?)" "p.(=)" "" "0000807151" "00014865" "50" "-40077" "0" "-40077" "0" "c.-40077G>A" "r.(?)" "p.(=)" "" "0000807152" "00014865" "30" "-40525" "0" "-40525" "0" "c.-40525dup" "r.(?)" "p.(=)" "" "0000807153" "00014865" "30" "-40613" "0" "-40613" "0" "c.-40613G>A" "r.(?)" "p.(=)" "" "0000807154" "00014865" "30" "-40698" "0" "-40698" "0" "c.-40698C>T" "r.(?)" "p.(=)" "" "0000807155" "00014865" "30" "-42027" "0" "-42027" "0" "c.-42027C>T" "r.(?)" "p.(=)" "" "0000807156" "00014865" "30" "-42300" "0" "-42300" "0" "c.-42300C>T" "r.(?)" "p.(=)" "" "0000807157" "00014865" "30" "-43064" "0" "-43064" "0" "c.-43064C>T" "r.(?)" "p.(=)" "" "0000807158" "00014865" "30" "-43064" "0" "-43064" "0" "c.-43064C>G" "r.(?)" "p.(=)" "" "0000807159" "00014865" "30" "-43166" "0" "-43166" "0" "c.-43166C>T" "r.(?)" "p.(=)" "" "0000807160" "00014865" "10" "-43606" "0" "-43606" "0" "c.-43606C>T" "r.(?)" "p.(=)" "" "0000807161" "00014865" "30" "-43699" "0" "-43699" "0" "c.-43699G>A" "r.(?)" "p.(=)" "" "0000807162" "00014865" "10" "-44235" "0" "-44235" "0" "c.-44235G>C" "r.(?)" "p.(=)" "" "0000807163" "00014865" "90" "-45106" "0" "-45106" "0" "c.-45106G>T" "r.(?)" "p.(=)" "" "0000841923" "00014865" "90" "268" "0" "268" "0" "c.268C>T" "r.268c.u" "p.Gln90*" "" "0000841924" "00014865" "90" "709" "1" "709" "1" "c.709+1G>A" "r.[602_709del,550_709del,379_709del,709_710ins[a;709+2_709+529;?]]" "p.[Gly201_Ile236del,Ser184Glnfs*13,Val127Glnfs*13,Ala237Aspfs*3]" "" "0000854318" "00014865" "30" "68" "0" "68" "0" "c.68T>C" "r.(?)" "p.(Leu23Pro)" "" "0000854319" "00014865" "30" "-5520" "0" "-5520" "0" "c.-5520G>A" "r.(?)" "p.(=)" "" "0000854320" "00014865" "30" "-5544" "0" "-5544" "0" "c.-5544T>A" "r.(?)" "p.(=)" "" "0000854321" "00014865" "50" "-6554" "0" "-6554" "0" "c.-6554C>T" "r.(?)" "p.(=)" "" "0000854322" "00014865" "50" "-8897" "0" "-8897" "0" "c.-8897T>C" "r.(?)" "p.(=)" "" "0000854323" "00014865" "30" "-14673" "0" "-14673" "0" "c.-14673G>T" "r.(?)" "p.(=)" "" "0000854324" "00014865" "30" "-26355" "0" "-26355" "0" "c.-26355G>A" "r.(?)" "p.(=)" "" "0000854325" "00014865" "30" "-31197" "0" "-31197" "0" "c.-31197C>T" "r.(?)" "p.(=)" "" "0000854326" "00014865" "30" "-31344" "0" "-31344" "0" "c.-31344C>T" "r.(?)" "p.(=)" "" "0000854327" "00014865" "10" "-31344" "0" "-31344" "0" "c.-31344C>G" "r.(?)" "p.(=)" "" "0000854328" "00014865" "50" "-32395" "0" "-32395" "0" "c.-32395G>A" "r.(?)" "p.(=)" "" "0000854329" "00014865" "50" "-32471" "0" "-32471" "0" "c.-32471G>A" "r.(?)" "p.(=)" "" "0000854330" "00014865" "50" "-37434" "0" "-37434" "0" "c.-37434C>T" "r.(?)" "p.(=)" "" "0000854331" "00014865" "30" "-37493" "0" "-37493" "0" "c.-37493C>T" "r.(?)" "p.(=)" "" "0000854332" "00014865" "30" "-38964" "0" "-38964" "0" "c.-38964G>A" "r.(?)" "p.(=)" "" "0000854333" "00014865" "90" "-40094" "0" "-40094" "0" "c.-40094C>G" "r.(?)" "p.(=)" "" "0000854334" "00014865" "30" "-40249" "0" "-40249" "0" "c.-40249C>T" "r.(?)" "p.(=)" "" "0000854335" "00014865" "30" "-42023" "0" "-42023" "0" "c.-42023G>A" "r.(?)" "p.(=)" "" "0000854336" "00014865" "30" "-42102" "0" "-42102" "0" "c.-42102C>T" "r.(?)" "p.(=)" "" "0000854337" "00014865" "90" "-42728" "0" "-42728" "0" "c.-42728dup" "r.(?)" "p.(=)" "" "0000854338" "00014865" "30" "-43075" "0" "-43075" "0" "c.-43075G>A" "r.(?)" "p.(=)" "" "0000854339" "00014865" "50" "-43286" "0" "-43286" "0" "c.-43286G>C" "r.(?)" "p.(=)" "" "0000854340" "00014865" "30" "-43600" "0" "-43600" "0" "c.-43600C>T" "r.(?)" "p.(=)" "" "0000854341" "00014865" "30" "-43699" "0" "-43699" "0" "c.-43699G>A" "r.(?)" "p.(=)" "" "0000854342" "00014865" "30" "-44005" "0" "-44005" "0" "c.-44005G>T" "r.(?)" "p.(=)" "" "0000854343" "00014865" "90" "-44269" "0" "-44262" "0" "c.-44269_-44262del" "r.(?)" "p.(=)" "" "0000854344" "00014865" "30" "-44274" "0" "-44274" "0" "c.-44274C>G" "r.(?)" "p.(=)" "" "0000854345" "00014865" "70" "-44644" "0" "-44644" "0" "c.-44644G>A" "r.(?)" "p.(=)" "" "0000854346" "00014865" "30" "-45802" "0" "-45802" "0" "c.-45802G>A" "r.(?)" "p.(=)" "" "0000864358" "00014865" "50" "170" "0" "170" "0" "c.170G>A" "r.(?)" "p.(Arg57His)" "" "0000864359" "00014865" "30" "-5524" "0" "-5524" "0" "c.-5524G>A" "r.(?)" "p.(=)" "" "0000864360" "00014865" "50" "-6515" "0" "-6515" "0" "c.-6515C>T" "r.(?)" "p.(=)" "" "0000864361" "00014865" "30" "-7689" "0" "-7689" "0" "c.-7689C>G" "r.(?)" "p.(=)" "" "0000864362" "00014865" "30" "-8331" "0" "-8331" "0" "c.-8331C>G" "r.(?)" "p.(=)" "" "0000864363" "00014865" "30" "-8382" "0" "-8382" "0" "c.-8382G>A" "r.(?)" "p.(=)" "" "0000864364" "00014865" "50" "-8848" "0" "-8848" "0" "c.-8848C>G" "r.(?)" "p.(=)" "" "0000864365" "00014865" "30" "-14710" "0" "-14710" "0" "c.-14710C>T" "r.(?)" "p.(=)" "" "0000864366" "00014865" "50" "-15148" "0" "-15148" "0" "c.-15148C>T" "r.(?)" "p.(=)" "" "0000864367" "00014865" "30" "-15150" "0" "-15150" "0" "c.-15150T>C" "r.(?)" "p.(=)" "" "0000864368" "00014865" "30" "-15161" "0" "-15161" "0" "c.-15161C>T" "r.(?)" "p.(=)" "" "0000864369" "00014865" "30" "-15220" "0" "-15220" "0" "c.-15220G>T" "r.(?)" "p.(=)" "" "0000864371" "00014865" "30" "-22639" "0" "-22639" "0" "c.-22639C>T" "r.(?)" "p.(=)" "" "0000864372" "00014865" "30" "-23963" "0" "-23963" "0" "c.-23963T>G" "r.(?)" "p.(=)" "" "0000864373" "00014865" "30" "-24021" "0" "-24021" "0" "c.-24021G>A" "r.(?)" "p.(=)" "" "0000864374" "00014865" "50" "-26489" "0" "-26489" "0" "c.-26489G>A" "r.(?)" "p.(=)" "" "0000864376" "00014865" "30" "-35853" "0" "-35853" "0" "c.-35853C>T" "r.(?)" "p.(=)" "" "0000864377" "00014865" "10" "-35950" "0" "-35950" "0" "c.-35950C>T" "r.(?)" "p.(=)" "" "0000864378" "00014865" "30" "-36644" "0" "-36644" "0" "c.-36644C>T" "r.(?)" "p.(=)" "" "0000864379" "00014865" "30" "-37146" "0" "-37146" "0" "c.-37146G>A" "r.(?)" "p.(=)" "" "0000864380" "00014865" "30" "-37146" "0" "-37146" "0" "c.-37146G>A" "r.(?)" "p.(=)" "" "0000864381" "00014865" "30" "-38898" "0" "-38898" "0" "c.-38898G>A" "r.(?)" "p.(=)" "" "0000864382" "00014865" "10" "-38994" "0" "-38994" "0" "c.-38994G>A" "r.(?)" "p.(=)" "" "0000864383" "00014865" "30" "-40238" "0" "-40238" "0" "c.-40238G>T" "r.(?)" "p.(=)" "" "0000864384" "00014865" "30" "-40238" "0" "-40238" "0" "c.-40238G>T" "r.(?)" "p.(=)" "" "0000864385" "00014865" "10" "-41966" "0" "-41966" "0" "c.-41966C>T" "r.(?)" "p.(=)" "" "0000864386" "00014865" "30" "-42027" "0" "-42027" "0" "c.-42027C>T" "r.(?)" "p.(=)" "" "0000864387" "00014865" "90" "-42067" "0" "-42057" "0" "c.-42067_-42057dup" "r.(?)" "p.(=)" "" "0000864388" "00014865" "90" "-42080" "0" "-42080" "0" "c.-42080C>T" "r.(?)" "p.(=)" "" "0000864389" "00014865" "90" "-42110" "0" "-42110" "0" "c.-42110C>T" "r.(?)" "p.(=)" "" "0000864390" "00014865" "30" "-42128" "0" "-42128" "0" "c.-42128C>T" "r.(?)" "p.(=)" "" "0000864391" "00014865" "90" "-42177" "0" "-42177" "0" "c.-42177dup" "r.(?)" "p.(=)" "" "0000864392" "00014865" "90" "-42303" "0" "-42302" "0" "c.-42303_-42302del" "r.(?)" "p.(=)" "" "0000864393" "00014865" "70" "-42344" "0" "-42344" "0" "c.-42344C>T" "r.(?)" 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"" "0001026585" "00014865" "30" "549" "29" "549" "29" "c.549+29G>A" "r.(=)" "p.(=)" "" "0001026586" "00014865" "10" "-5541" "0" "-5541" "0" "c.-5541G>A" "r.(?)" "p.(=)" "" "0001026587" "00014865" "50" "-7611" "0" "-7611" "0" "c.-7611G>C" "r.(?)" "p.(=)" "" "0001026588" "00014865" "50" "-7636" "0" "-7636" "0" "c.-7636C>T" "r.(?)" "p.(=)" "" "0001026589" "00014865" "30" "-8768" "0" "-8768" "0" "c.-8768G>A" "r.(?)" "p.(=)" "" "0001026590" "00014865" "30" "-11034" "0" "-11034" "0" "c.-11034C>T" "r.(?)" "p.(=)" "" "0001026591" "00014865" "30" "-14169" "0" "-14169" "0" "c.-14169G>T" "r.(?)" "p.(=)" "" "0001026592" "00014865" "30" "-15100" "0" "-15100" "0" "c.-15100C>T" "r.(?)" "p.(=)" "" "0001026593" "00014865" "50" "-15129" "0" "-15129" "0" "c.-15129C>T" "r.(?)" "p.(=)" "" "0001026594" "00014865" "30" "-17651" "0" "-17650" "0" "c.-17651_-17650dup" "r.(?)" "p.(=)" "" "0001026595" "00014865" "10" "-23769" "0" "-23769" "0" "c.-23769A>G" "r.(?)" 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"p.(=)" "" "0001040901" "00014865" "10" "-10999" "0" "-10999" "0" "c.-10999C>T" "r.(?)" "p.(=)" "" "0001040902" "00014865" "30" "-11032" "0" "-11032" "0" "c.-11032C>A" "r.(?)" "p.(=)" "" "0001040903" "00014865" "30" "-14684" "0" "-14684" "0" "c.-14684G>A" "r.(?)" "p.(=)" "" "0001040906" "00014865" "30" "-24064" "0" "-24064" "0" "c.-24064C>T" "r.(?)" "p.(=)" "" "0001040907" "00014865" "30" "-24503" "0" "-24503" "0" "c.-24503G>A" "r.(?)" "p.(=)" "" "0001040909" "00014865" "30" "-31196" "0" "-31196" "0" "c.-31196G>A" "r.(?)" "p.(=)" "" "0001040910" "00014865" "50" "-32471" "0" "-32471" "0" "c.-32471G>A" "r.(?)" "p.(=)" "" "0001040911" "00014865" "50" "-36590" "0" "-36590" "0" "c.-36590G>A" "r.(?)" "p.(=)" "" "0001040912" "00014865" "10" "-36660" "0" "-36660" "0" "c.-36660C>A" "r.(?)" "p.(=)" "" "0001040913" "00014865" "50" "-36801" "0" "-36801" "0" "c.-36801C>G" "r.(?)" "p.(=)" "" "0001040914" "00014865" "90" "-38946" "0" "-38944" "0" "c.-38946_-38944del" "r.(?)" "p.(=)" "" "0001040915" "00014865" "30" "-40009" "0" "-40009" "0" "c.-40009G>A" "r.(?)" "p.(=)" "" "0001040916" "00014865" "50" "-40043" "0" "-40043" "0" "c.-40043C>G" "r.(?)" "p.(=)" "" "0001040917" "00014865" "30" "-40227" "0" "-40227" "0" "c.-40227C>T" "r.(?)" "p.(=)" "" "0001040918" "00014865" "90" "-40446" "0" "-40446" "0" "c.-40446G>A" "r.(?)" "p.(=)" "" "0001040919" "00014865" "30" "-42812" "0" "-42812" "0" "c.-42812G>A" "r.(?)" "p.(=)" "" "0001040922" "00014865" "50" "-44022" "0" "-44022" "0" "c.-44022G>C" "r.(?)" "p.(=)" "" "0001046539" "00014865" "50" "772" "0" "772" "0" "c.772T>A" "r.(?)" "p.(Ser258Thr)" "" "0001046540" "00014865" "50" "140" "-16" "140" "-16" "c.140-16G>A" "r.(=)" "p.(=)" "" "0001046541" "00014865" "50" "23" "0" "23" "0" "c.23G>A" "r.(?)" "p.(Gly8Asp)" "" "0001046542" "00014865" "90" "-24085" "0" "-24085" "0" "c.-24085G>A" "r.(?)" "p.(=)" "" "0001046543" "00014865" "30" "-26473" "0" "-26473" "0" "c.-26473G>T" "r.(?)" "p.(=)" "" "0001046544" "00014865" "50" "-40269" "0" "-40269" "0" "c.-40269G>A" "r.(?)" "p.(=)" "" "0001046545" "00014865" "70" "-42475" "0" "-42475" "0" "c.-42475G>T" "r.(?)" "p.(=)" "" "0001046546" "00014865" "30" "-42857" "0" "-42857" "0" "c.-42857C>T" "r.(?)" "p.(=)" "" "0001046547" "00014865" "30" "-44223" "0" "-44223" "0" "c.-44223C>G" "r.(?)" "p.(=)" "" "0001046548" "00014865" "30" "-45136" "0" "-45136" "0" "c.-45136G>A" "r.(?)" "p.(=)" "" "0001046549" "00014865" "30" "-45733" "0" "-45733" "0" "c.-45733A>G" "r.(?)" "p.(=)" "" "0001046550" "00014865" "70" "-45755" "0" "-45755" "0" "c.-45755C>T" "r.(?)" "p.(=)" "" "0001048364" "00014865" "90" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Gln82Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000039015" "0000067049" "0000039016" "0000067050" "0000039017" "0000067051" "0000240251" "0000484277" "0000292572" "0000649261" "0000297674" "0000660283" "0000301768" "0000664841" "0000315941" "0000698049" "0000315941" "0000698050" "0000315961" "0000698071" "0000315965" "0000698076" "0000315965" "0000698080" "0000315970" "0000698081" "0000315970" "0000698082" "0000315971" "0000698083" "0000315971" "0000698084" "0000315974" "0000698087" "0000315975" "0000698088" "0000315976" "0000698089" "0000315977" "0000698090" "0000315978" "0000698091" "0000315979" "0000698092" "0000315980" "0000698093" "0000315980" "0000698094" "0000315981" "0000698095" "0000315981" "0000698096" "0000315982" "0000698097" "0000373260" "0000783228" "0000405804" "0000841923" "0000405804" "0000841924"