### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NOTCH1) # 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}}" "NOTCH1" "notch 1" "9" "q34.3" "unknown" "NG_007458.1" "UD_132085360782" "" "http://www.LOVD.nl/NOTCH1" "" "1" "7881" "4851" "190198" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/NOTCH1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-19 19:36:10" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00014698" "NOTCH1" "notch 1" "001" "NM_017617.3" "" "NP_060087.3" "" "" "" "1" "9295" "7668" "139440238" "139388896" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00884" "LDS" "Loeys-Dietz syndrome (LDS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01192" "AOVD1" "aortic valve disease, type 1 (AOVD-1)" "AD" "109730" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04062" "BBSOAS" "Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)" "AD" "615722" "" "developmental delay, speech delay 0.96 (44/46), motor delay 0.87 (41/47)), hypotonia 0.84 (39/46), optic nerve atrophy 0.83 (30/36), nystagmus (0.82 (37/45),strabismus 0.77 (34/44)" "" "00006" "2014-09-25 23:29:40" "00006" "2025-02-24 12:35:13" "04179" "AOS" "Adams-Oliver syndrome (AOS)" "" "" "" "" "" "00006" "2015-02-07 15:59:17" "00006" "2015-03-13 12:45:54" "04180" "AOS5" "Adams-Oliver syndrome, type 5 (AOS-5)" "AD" "616028" "" "" "" "00006" "2015-02-07 16:01:19" "00006" "2021-12-10 21:51:32" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NOTCH1" "01192" "NOTCH1" "04180" ## Individuals ## Do not remove or alter this header ## ## Count = 29 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00065134" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "M" "?" "Switzerland" "00y03m" "0" "" "" "Europe" "SIDS069" "00104041" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-780A" "00294808" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294809" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294810" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294811" "" "" "" "32" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294812" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303028" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat73" "00305238" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307142" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "-" "Brazil" "" "0" "" "" "" "Patient 06" "00311172" "" "" "" "1" "" "03763" "{PMID:Kaiwar 2017:28963436}" "" "F" "?" "" "" "0" "" "" "" "Case 2" "00325873" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "174014" "00398100" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat38" "00398126" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat65" "00398179" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat124" "00398180" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat125" "00398181" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat126" "00398182" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat127" "00398183" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat128" "00398184" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat129" "00398185" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat130" "00398186" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat131" "00398187" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat132" "00398332" "" "" "" "2" "" "00006" "{PMID:Schubert 2016:26854089}" "3-generation family, affected father/son" "M" "" "United States" "" "0" "" "" "" "Fam2PatIII4" "00451671" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00453720" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV090" "00453725" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV581" "00460920" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00460945" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 29 "{{individualid}}" "{{diseaseid}}" "00065134" "02087" "00104041" "03381" "00294808" "00198" "00294809" "00198" "00294810" "00198" "00294811" "00198" "00294812" "00198" "00303028" "05521" "00305238" "00198" "00307142" "01544" "00311172" "04062" "00325873" "04179" "00398100" "00198" "00398126" "00198" "00398179" "00198" "00398180" "00198" "00398181" "00198" "00398182" "00198" "00398183" "00198" "00398184" "00198" "00398185" "00198" "00398186" "00198" "00398187" "00198" "00398332" "00884" "00451671" "00198" "00453720" "00152" "00453725" "00152" "00460920" "00198" "00460945" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 00198, 00884, 01192, 01544, 02087, 03381, 04062, 04179, 04180, 05521 ## Count = 21 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000051239" "02087" "00065134" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000081975" "03381" "00104041" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000230111" "05521" "00303028" "00006" "Isolated (sporadic)" "" "Generalized epilepsy, infantile onset; age onset infantile" "" "" "" "" "" "" "" "" "" "seizures" "" "0000232946" "01544" "00307142" "03753" "-" "" "Unilateral" "" "00y35m" "HP:0000555" "" "" "" "" "" "" "" "" "0000236426" "04062" "00311172" "03763" "Isolated (sporadic)" "05y" "Caesarian section (HP:0011410); Premature rupture of membranes (HP:0001788); Maternal hypertension (HP:0008071); Hyperemesis gravidarum (HP:0012188); Feeding difficulties in infancy (HP:0008872); Nasogastric tube feeding in infancy (HP:0011470); Heart murmur (HP:0030148); Bicuspid aortic valve (HP:0001647); Aortic aneurysm (HP:0004942); Muscular hypotonia (HP:0001252); Amblyopia (HP:0000646); Anisometropia (HP:0012803); Strabismus (HP:0000486); Neurodevelopmental delay (HP:0012758); Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Stereotypy (HP:0000733); Hypertelorism (HP:0000316); Synophrys (HP:0000664); Cupped ear (HP:0000378); Macrocephaly (HP:0000256); Broad proximal phalanges of the hand (HP:0009852)" "00y00m03d" "" "" "" "" "" "" "" "" "" "" "0000244360" "04179" "00325873" "01164" "Unknown" "48y" "stroke, abnormal cerebral morphology, leukoencephalopathy, vasculitis, abnormality of lysosomal metabolism, inflammatory arteriopathy, recurrent subcortical infarcts, abnormal cerebral artery morphology, abnormality of the cerebral subcortex, abnormal cellular physiology, abnormality of the cerebral vasculature" "" "" "" "" "" "" "" "" "" "" "" "0000291210" "00198" "00398100" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291236" "00198" "00398126" "00006" "Unknown" "0y" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291289" "00198" "00398179" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291290" "00198" "00398180" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291291" "00198" "00398181" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291292" "00198" "00398182" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291293" "00198" "00398183" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291294" "00198" "00398184" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291295" "00198" "00398185" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291296" "00198" "00398186" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291297" "00198" "00398187" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291455" "00884" "00398332" "00006" "Unknown" "10y" "see paper; ..., mild TAA" "" "" "" "" "" "" "" "" "" "" "" "0000340332" "05810" "00451671" "03544" "Unknown" "" "HP:0001057" "" "" "" "" "" "" "" "" "AOS5" "aplasia cutis congenita" "" "0000342377" "00152" "00453720" "00006" "Unknown" "" "large root and ascending aneurysm" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342382" "00152" "00453725" "00006" "Unknown" "" "aortic valve replacement, ascending aortic replacement" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" ## Screenings ## Do not remove or alter this header ## ## Count = 29 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065285" "00065134" "1" "01602" "01602" "2016-05-19 13:44:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000104512" "00104041" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000295976" "00294808" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295977" "00294809" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295978" "00294810" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295979" "00294811" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295980" "00294812" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304153" "00303028" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000306367" "00305238" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308283" "00307142" "1" "03753" "03753" "2020-08-04 07:20:11" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "gene panel" "0000312328" "00311172" "1" "03763" "03763" "2020-09-21 10:32:59" "" "" "SEQ-NG" "DNA" "" "" "0000327083" "00325873" "1" "01164" "01164" "2021-01-04 16:46:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000399343" "00398100" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399369" "00398126" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "arraySNP;microscope" "DNA" "" "" "0000399422" "00398179" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399423" "00398180" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399424" "00398181" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399425" "00398182" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399426" "00398183" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399427" "00398184" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399428" "00398185" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399429" "00398186" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399430" "00398187" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399578" "00398332" "1" "00006" "00006" "2022-01-04 15:22:16" "" "" "SEQ" "DNA" "" "WES" "0000453275" "00451671" "1" "03544" "03544" "2024-06-27 12:51:59" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000455332" "00453720" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455337" "00453725" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000462552" "00460920" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" "0000462577" "00460945" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000304153" "NOTCH1" "0000304153" "WDR45" "0000312328" "NOTCH1" "0000327083" "NOTCH1" "0000399343" "NOTCH1" "0000399369" "NOTCH1" "0000399422" "NOTCH1" "0000399423" "NOTCH1" "0000399424" "NOTCH1" "0000399425" "NOTCH1" "0000399425" "TGFB3" "0000399426" "NOTCH1" "0000399427" "NOTCH1" "0000399428" "NOTCH1" "0000399429" "NOTCH1" "0000399430" "NOTCH1" "0000462552" "NOTCH1" "0000462577" "NOTCH1" ## 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 = 815 "{{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}}" "0000096958" "0" "50" "9" "139390546" "139390546" "subst" "0.000128701" "01602" "NOTCH1_000001" "g.139390546G>A" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs200893930" "0" "" "" "g.136496094G>A" "" "VUS" "" "0000169448" "0" "70" "9" "139417398" "139417398" "subst" "0" "00587" "NOTCH1_000002" "g.139417398C>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_017617.3(NOTCH1):c.646G>A p.(Glu216Lys)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.136522946C>T" "" "likely pathogenic" "" "0000246779" "0" "10" "9" "139407932" "139407932" "subst" "0.400074" "02330" "NOTCH1_000119" "g.139407932A>G" "" "" "" "NOTCH1(NM_017617.5):c.2265T>C (p.N755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136513480A>G" "" "benign" "" "0000246780" "0" "10" "9" "139410424" "139410424" "subst" "0.871628" "02330" "NOTCH1_000141" "g.139410424A>G" "" "" "" "NOTCH1(NM_017617.5):c.1669+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515972A>G" "" "benign" "" "0000246789" "0" "10" "9" "139418260" "139418260" "subst" "0.587179" "02330" "NOTCH1_000171" "g.139418260A>G" "" "" "" "NOTCH1(NM_017617.5):c.311_312delATinsAC (p.N104=), NOTCH1(NM_017617.5):c.312T>C (p.N104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136523808A>G" "" "benign" "" "0000247903" "0" "30" "9" "139407932" "139407932" "subst" "0.400074" "02325" "NOTCH1_000119" "g.139407932A>G" "" "" "" "NOTCH1(NM_017617.5):c.2265T>C (p.N755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136513480A>G" "" "likely benign" "" "0000248335" "0" "30" "9" "139418260" "139418260" "subst" "0.587179" "02325" "NOTCH1_000171" "g.139418260A>G" "" "" "" "NOTCH1(NM_017617.5):c.311_312delATinsAC (p.N104=), NOTCH1(NM_017617.5):c.312T>C (p.N104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136523808A>G" "" "likely benign" "" "0000249881" "0" "10" "9" "139407932" "139407932" "subst" "0.400074" "02329" "NOTCH1_000119" "g.139407932A>G" "" "" "" "NOTCH1(NM_017617.5):c.2265T>C (p.N755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136513480A>G" "" "benign" "" "0000249894" "0" "10" "9" "139410424" "139410424" "subst" "0.871628" "02329" "NOTCH1_000141" "g.139410424A>G" "" "" "" "NOTCH1(NM_017617.5):c.1669+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515972A>G" "" "benign" "" "0000250070" "0" "10" "9" "139418260" "139418260" "subst" "0.587179" "02329" "NOTCH1_000171" "g.139418260A>G" "" "" "" "NOTCH1(NM_017617.5):c.311_312delATinsAC (p.N104=), NOTCH1(NM_017617.5):c.312T>C (p.N104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136523808A>G" "" "benign" "" "0000250109" "0" "10" "9" "139391414" "139391414" "subst" "0.00138205" "02329" "NOTCH1_000015" "g.139391414A>G" "" "" "" "NOTCH1(NM_017617.5):c.6777T>C (p.G2259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496962A>G" "" "benign" "" "0000253105" "0" "10" "9" "139407932" "139407932" "subst" "0.400074" "01943" "NOTCH1_000119" "g.139407932A>G" "" "" "" "NOTCH1(NM_017617.5):c.2265T>C (p.N755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136513480A>G" "" "benign" "" "0000253118" "0" "10" "9" "139410424" "139410424" "subst" "0.871628" "01943" "NOTCH1_000141" "g.139410424A>G" "" "" "" "NOTCH1(NM_017617.5):c.1669+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515972A>G" "" "benign" "" "0000253656" "0" "10" "9" "139390676" "139390676" "subst" "0.00253597" "01943" "NOTCH1_000181" "g.139390676A>C" "" "" "" "NOTCH1(NM_017617.5):c.7515T>G (p.P2505=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496224A>C" "" "benign" "" "0000255257" "0" "30" "9" "139407591" "139407591" "subst" "8.95999E-5" "01943" "NOTCH1_000116" "g.139407591A>G" "" "" "" "NOTCH1(NM_017617.5):c.2354-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136513139A>G" "" "likely benign" "" "0000255522" "0" "90" "9" "139391310" "139391310" "del" "0" "01943" "NOTCH1_000011" "g.139391310del" "" "" "" "NOTCH1(NM_017617.5):c.6881delT (p.L2294Rfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496858del" "" "pathogenic" "" "0000256002" "0" "50" "9" "139400029" "139400029" "subst" "0" "01943" "NOTCH1_000182" "g.139400029A>G" "" "" "" "NOTCH1(NM_017617.5):c.4319T>C (p.I1440T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505577A>G" "" "VUS" "" "0000256686" "0" "50" "9" "139418319" "139418319" "subst" "0" "01943" "NOTCH1_000174" "g.139418319A>G" "" "" "" "NOTCH1(NM_017617.5):c.253T>C (p.Y85H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136523867A>G" "" "VUS" "" "0000293138" "0" "10" "9" "139412197" "139412197" "subst" "0.576356" "02330" "NOTCH1_000148" "g.139412197G>A" "" "" "" "NOTCH1(NM_017617.5):c.1441+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136517745G>A" "" "benign" "" "0000293139" "0" "10" "9" "139411714" "139411714" "subst" "0.452558" "02330" "NOTCH1_000145" "g.139411714T>C" "" "" "" "NOTCH1(NM_017617.5):c.1555+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136517262T>C" "" "benign" "" "0000293140" "0" "10" "9" "139410467" "139410467" "subst" "0.00806959" "02330" "NOTCH1_000143" "g.139410467G>A" "" "" "" "NOTCH1(NM_017617.3):c.1635C>T (p.(Asp545=)), NOTCH1(NM_017617.5):c.1635C>T (p.D545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136516015G>A" "" "benign" "" "0000293141" "0" "10" "9" "139410177" "139410177" "subst" "0.462685" "02330" "NOTCH1_000139" "g.139410177T>C" "" "" "" "NOTCH1(NM_017617.5):c.1670-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515725T>C" "" "benign" "" "0000293143" "0" "10" "9" "139418386" "139418386" "subst" "0.00059063" "02330" "NOTCH1_000175" "g.139418386C>G" "" "" "" "NOTCH1(NM_017617.5):c.186G>C (p.P62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136523934C>G" "" "benign" "" "0000293144" "0" "10" "9" "139405261" "139405261" "subst" "0.47437" "02330" "NOTCH1_000111" "g.139405261C>T" "" "" "" "NOTCH1(NM_017617.5):c.2588-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136510809C>T" "" "benign" "" "0000293145" "0" "10" "9" "139405093" "139405093" "subst" "0.110242" "02330" "NOTCH1_000104" "g.139405093G>A" "" "" "" "NOTCH1(NM_017617.5):c.2740+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136510641G>A" "" "benign" "" "0000293147" "0" "10" "9" "139397707" "139397707" "subst" "0.448181" "02330" "NOTCH1_000048" "g.139397707G>A" "" "" "" "NOTCH1(NM_017617.5):c.5094C>T (p.D1698=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136503255G>A" "" "benign" "" "0000293148" "0" "10" "9" "139396933" "139396933" "subst" "0.0024899" "02330" "NOTCH1_000045" "g.139396933G>A" "" "" "" "NOTCH1(NM_017617.5):c.5175C>T (p.T1725=, p.(Thr1725=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136502481G>A" "" "benign" "" "0000293149" "0" "10" "9" "139395311" "139395311" "subst" "0.0664716" "02330" "NOTCH1_000033" "g.139395311G>A" "" "" "" "NOTCH1(NM_017617.5):c.5639-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136500859G>A" "" "benign" "" "0000293150" "0" "10" "9" "139413908" "139413908" "subst" "0.135305" "02330" "NOTCH1_000163" "g.139413908C>T" "" "" "" "NOTCH1(NM_017617.5):c.852G>A (p.P284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136519456C>T" "" "benign" "" "0000296519" "0" "10" "9" "139412197" "139412197" "subst" "0.576356" "02325" "NOTCH1_000148" "g.139412197G>A" "" "" "" "NOTCH1(NM_017617.5):c.1441+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136517745G>A" "" "benign" "" "0000296520" "0" "50" "9" "139412204" "139412204" "subst" "0" "02325" "NOTCH1_000149" "g.139412204C>T" "" "" "" "NOTCH1(NM_017617.5):c.1441G>A (p.G481S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136517752C>T" "" "VUS" "" "0000296521" "0" "30" "9" "139411769" "139411769" "subst" "2.92403E-5" "02325" "NOTCH1_000146" "g.139411769G>A" "" "" "" "NOTCH1(NM_017617.5):c.1510C>T (p.R504C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136517317G>A" "" "likely benign" "" "0000296522" "0" "30" "9" "139411714" "139411714" "subst" "0.452558" "02325" "NOTCH1_000145" "g.139411714T>C" "" "" "" "NOTCH1(NM_017617.5):c.1555+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136517262T>C" "" "likely benign" "" "0000296523" "0" "90" "9" "139410175" "139410175" "subst" "0" "02325" "NOTCH1_000138" "g.139410175C>T" "" "" "" "NOTCH1(NM_017617.5):c.1670-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515723C>T" "" "pathogenic" "" "0000296524" "0" "10" "9" "139410177" "139410177" "subst" "0.462685" "02325" "NOTCH1_000139" "g.139410177T>C" "" "" "" "NOTCH1(NM_017617.5):c.1670-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515725T>C" "" "benign" "" "0000296525" "0" "10" "9" "139405261" "139405261" "subst" "0.47437" "02325" "NOTCH1_000111" "g.139405261C>T" "" "" "" "NOTCH1(NM_017617.5):c.2588-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136510809C>T" "" "benign" "" "0000296526" "0" "30" "9" "139405111" "139405111" "subst" "0.00171278" "02325" "NOTCH1_000105" "g.139405111G>A" "" "" "" "NOTCH1(NM_017617.3):c.2734C>T (p.(Arg912Trp)), NOTCH1(NM_017617.5):c.2734C>T (p.R912W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136510659G>A" "" "likely benign" "" "0000296527" "0" "30" "9" "139402715" "139402715" "subst" "0.00287957" "02325" "NOTCH1_000091" "g.139402715G>A" "" "" "" "NOTCH1(NM_017617.5):c.3294C>T (p.S1098=, p.(Ser1098=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136508263G>A" "" "likely benign" "" "0000296528" "0" "50" "9" "139401363" "139401363" "subst" "2.07648E-5" "02325" "NOTCH1_000081" "g.139401363G>A" "" "" "" "NOTCH1(NM_017617.3):c.3706C>T (p.(Pro1236Ser)), NOTCH1(NM_017617.5):c.3706C>T (p.P1236S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136506911G>A" "" "VUS" "" "0000296529" "0" "30" "9" "139397707" "139397707" "subst" "0.448181" "02325" "NOTCH1_000048" "g.139397707G>A" "" "" "" "NOTCH1(NM_017617.5):c.5094C>T (p.D1698=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136503255G>A" "" "likely benign" "" "0000296530" "0" "50" "9" "139391962" "139391962" "subst" "0" "02325" "NOTCH1_000024" "g.139391962C>T" "" "" "" "NOTCH1(NM_017617.5):c.6229G>A (p.A2077T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136497510C>T" "" "VUS" "" "0000296531" "0" "30" "9" "139391506" "139391506" "subst" "0.000185041" "02325" "NOTCH1_000016" "g.139391506C>T" "" "" "" "NOTCH1(NM_017617.5):c.6685G>A (p.V2229M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136497054C>T" "" "likely benign" "" "0000296532" "0" "10" "9" "139413908" "139413908" "subst" "0.135305" "02325" "NOTCH1_000163" "g.139413908C>T" "" "" "" "NOTCH1(NM_017617.5):c.852G>A (p.P284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136519456C>T" "" "benign" "" "0000298580" "0" "50" "9" "139413097" "139413097" "subst" "0.103438" "02329" "NOTCH1_000160" "g.139413097T>G" "" "" "" "NOTCH1(NM_017617.5):c.1045A>C (p.T349P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136518645T>G" "" "VUS" "" "0000298581" "0" "30" "9" "139412379" "139412379" "subst" "0" "02329" "NOTCH1_000157" "g.139412379G>T" "" "" "" "NOTCH1(NM_017617.5):c.1266C>A (p.P422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136517927G>T" "" "likely benign" "" "0000298582" "0" "30" "9" "139412238" "139412238" "subst" "4.08093E-6" "02329" "NOTCH1_000153" "g.139412238G>A" "" "" "" "NOTCH1(NM_017617.5):c.1407C>T (p.D469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136517786G>A" "" "likely benign" "" "0000298583" "0" "10" "9" "139412197" "139412197" "subst" "0.576356" "02329" "NOTCH1_000148" "g.139412197G>A" "" "" "" "NOTCH1(NM_017617.5):c.1441+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136517745G>A" "" "benign" "" "0000298584" "0" "10" "9" "139411714" "139411714" "subst" "0.452558" "02329" "NOTCH1_000145" "g.139411714T>C" "" "" "" "NOTCH1(NM_017617.5):c.1555+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136517262T>C" "" "benign" "" "0000298585" "0" "10" "9" "139410467" "139410467" "subst" "0.00806959" "02329" "NOTCH1_000143" "g.139410467G>A" "" "" "" "NOTCH1(NM_017617.3):c.1635C>T (p.(Asp545=)), NOTCH1(NM_017617.5):c.1635C>T (p.D545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136516015G>A" "" "benign" "" "0000298586" "0" "10" "9" "139410437" "139410437" "subst" "0.0109717" "02329" "NOTCH1_000142" "g.139410437C>T" "" "" "" "NOTCH1(NM_017617.5):c.1665G>A (p.T555=, p.(Thr555=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515985C>T" "" "benign" "" "0000298587" "0" "10" "9" "139410420" "139410420" "subst" "0.000815975" "02329" "NOTCH1_000140" "g.139410420C>T" "" "" "" "NOTCH1(NM_017617.5):c.1669+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515968C>T" "" "benign" "" "0000298588" "0" "10" "9" "139410177" "139410177" "subst" "0.462685" "02329" "NOTCH1_000139" "g.139410177T>C" "" "" "" "NOTCH1(NM_017617.5):c.1670-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515725T>C" "" "benign" "" "0000298589" "0" "30" "9" "139409975" "139409975" "subst" "4.11879E-5" "02329" "NOTCH1_000132" "g.139409975G>A" "" "" "" "NOTCH1(NM_017617.5):c.1863C>T (p.R621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515523G>A" "" "likely benign" "" "0000298590" "0" "30" "9" "139409726" "139409726" "subst" "0.000147203" "02329" "NOTCH1_000128" "g.139409726G>A" "" "" "" "NOTCH1(NM_017617.5):c.2014+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515274G>A" "" "likely benign" "" "0000298591" "0" "10" "9" "139408964" "139408964" "subst" "0.00416764" "02329" "NOTCH1_000122" "g.139408964G>A" "" "" "" "NOTCH1(NM_017617.5):c.2205C>T (p.N735=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136514512G>A" "" "benign" "" "0000298592" "0" "10" "9" "139408952" "139408952" "subst" "0.00340413" "02329" "NOTCH1_000121" "g.139408952C>T" "" "" "" "NOTCH1(NM_017617.5):c.2207+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136514500C>T" "" "benign" "" "0000298593" "0" "30" "9" "139407980" "139407980" "subst" "1.6312E-5" "02329" "NOTCH1_000120" "g.139407980G>A" "" "" "" "NOTCH1(NM_017617.5):c.2217C>T (p.C739=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136513528G>A" "" "likely benign" "" "0000298594" "0" "30" "9" "139407872" "139407872" "subst" "0.000481519" "02329" "NOTCH1_000118" "g.139407872G>A" "" "" "" "NOTCH1(NM_017617.5):c.2325C>T (p.Y775=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136513420G>A" "" "likely benign" "" "0000298595" "0" "10" "9" "139405742" "139405742" "subst" "0.00311872" "02329" "NOTCH1_000115" "g.139405742C>T" "" "" "" "NOTCH1(NM_017617.5):c.2468-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136511290C>T" "" "benign" "" "0000298596" "0" "10" "9" "139405584" "139405584" "subst" "0.016773" "02329" "NOTCH1_000113" "g.139405584C>T" "" "" "" "NOTCH1(NM_017617.5):c.2587+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136511132C>T" "" "benign" "" "0000298597" "0" "10" "9" "139405261" "139405261" "subst" "0.47437" "02329" "NOTCH1_000111" "g.139405261C>T" "" "" "" "NOTCH1(NM_017617.5):c.2588-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136510809C>T" "" "benign" "" "0000298598" "0" "10" "9" "139405181" "139405181" "subst" "0.0124042" "02329" "NOTCH1_000109" "g.139405181G>A" "" "" "" "NOTCH1(NM_017617.5):c.2664C>T (p.H888=, p.(His888=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136510729G>A" "" "benign" "" "0000298599" "0" "10" "9" "139405154" "139405154" "subst" "0.0121155" "02329" "NOTCH1_000108" "g.139405154G>A" "" "" "" "NOTCH1(NM_017617.5):c.2691C>T (p.A897=, p.(Ala897=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136510702G>A" "" "benign" "" "0000298600" "0" "10" "9" "139405111" "139405111" "subst" "0.00171278" "02329" "NOTCH1_000105" "g.139405111G>A" "" "" "" "NOTCH1(NM_017617.3):c.2734C>T (p.(Arg912Trp)), NOTCH1(NM_017617.5):c.2734C>T (p.R912W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136510659G>A" "" "benign" "" "0000298601" "0" "10" "9" "139405093" "139405093" "subst" "0.110242" "02329" "NOTCH1_000104" "g.139405093G>A" "" "" "" "NOTCH1(NM_017617.5):c.2740+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136510641G>A" "" "benign" "" "0000298602" "0" "30" "9" "139405091" "139405091" "subst" "7.64313E-5" "02329" "NOTCH1_000103" "g.139405091G>A" "" "" "" "NOTCH1(NM_017617.5):c.2740+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136510639G>A" "" "likely benign" "" "0000298603" "0" "10" "9" "139404385" "139404385" "subst" "0.000736587" "02329" "NOTCH1_000102" "g.139404385T>C" "" "" "" "NOTCH1(NM_017617.5):c.2769A>G (p.T923=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136509933T>C" "" "benign" "" "0000298604" "0" "30" "9" "139404349" "139404349" "subst" "0.000142361" "02329" "NOTCH1_000101" "g.139404349G>A" "" "" "" "NOTCH1(NM_017617.5):c.2805C>T (p.P935=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136509897G>A" "" "likely benign" "" "0000298605" "0" "30" "9" "139404341" "139404341" "subst" "0.000447424" "02329" "NOTCH1_000100" "g.139404341C>T" "" "" "" "NOTCH1(NM_017617.5):c.2813G>A (p.(Arg938Gln), p.R938Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136509889C>T" "" "likely benign" "" "0000298606" "0" "30" "9" "139404226" "139404226" "subst" "4.07007E-5" "02329" "NOTCH1_000099" "g.139404226G>A" "" "" "" "NOTCH1(NM_017617.5):c.2928C>T (p.S976=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136509774G>A" "" "likely benign" "" "0000298607" "0" "10" "9" "139403543" "139403543" "subst" "0.000756213" "02329" "NOTCH1_000098" "g.139403543C>T" "" "" "" "NOTCH1(NM_017617.5):c.2970-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136509091C>T" "" "benign" "" "0000298608" "0" "10" "9" "139402715" "139402715" "subst" "0.00287957" "02329" "NOTCH1_000091" "g.139402715G>A" "" "" "" "NOTCH1(NM_017617.5):c.3294C>T (p.S1098=, p.(Ser1098=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136508263G>A" "" "benign" "" "0000298609" "0" "30" "9" "139402602" "139402602" "subst" "0.000417627" "02329" "NOTCH1_000087" "g.139402602T>G" "" "" "" "NOTCH1(NM_017617.5):c.3326-11A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136508150T>G" "" "likely benign" "" "0000298610" "0" "30" "9" "139402606" "139402606" "subst" "1.67174E-5" "02329" "NOTCH1_000088" "g.139402606G>T" "" "" "" "NOTCH1(NM_017617.5):c.3326-15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136508154G>T" "" "likely benign" "" "0000298611" "0" "10" "9" "139402584" "139402584" "subst" "0.0040038" "02329" "NOTCH1_000086" "g.139402584G>A" "" "" "" "NOTCH1(NM_017617.5):c.3333C>T (p.D1111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136508132G>A" "" "benign" "" "0000298612" "0" "10" "9" "139401899" "139401899" "subst" "0.00339779" "02329" "NOTCH1_000084" "g.139401899C>T" "" "" "" "NOTCH1(NM_017617.5):c.3511-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136507447C>T" "" "benign" "" "0000298613" "0" "30" "9" "139401872" "139401872" "subst" "0.000257612" "02329" "NOTCH1_000083" "g.139401872G>A" "" "" "" "NOTCH1(NM_017617.5):c.3528C>T (p.H1176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136507420G>A" "" "likely benign" "" "0000298614" "0" "30" "9" "139401429" "139401429" "subst" "0.000243418" "02329" "NOTCH1_000082" "g.139401429C>T" "" "" "" "NOTCH1(NM_017617.5):c.3644-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136506977C>T" "" "likely benign" "" "0000298615" "0" "10" "9" "139401289" "139401289" "subst" "0.00175239" "02329" "NOTCH1_000079" "g.139401289C>G" "" "" "" "NOTCH1(NM_017617.3):c.3780G>C (p.(Val1260=)), NOTCH1(NM_017617.5):c.3780G>C (p.V1260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136506837C>G" "" "benign" "" "0000298616" "0" "10" "9" "139401233" "139401233" "subst" "0.0153129" "02329" "NOTCH1_000077" "g.139401233C>T" "" "" "" "NOTCH1(NM_017617.3):c.3836G>A (p.(Arg1279His)), NOTCH1(NM_017617.5):c.3836G>A (p.R1279H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136506781C>T" "" "benign" "" "0000298617" "0" "30" "9" "139400320" "139400320" "subst" "0.00168771" "02329" "NOTCH1_000072" "g.139400320G>A" "" "" "" "NOTCH1(NM_017617.3):c.4028C>T (p.(Ala1343Val)), NOTCH1(NM_017617.5):c.4028C>T (p.A1343V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505868G>A" "" "likely benign" "" "0000298618" "0" "10" "9" "139400219" "139400219" "subst" "0.0168987" "02329" "NOTCH1_000069" "g.139400219G>A" "" "" "" "NOTCH1(NM_017617.3):c.4129C>T (p.(Pro1377Ser)), NOTCH1(NM_017617.5):c.4129C>T (p.P1377S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505767G>A" "" "benign" "" "0000298619" "0" "50" "9" "139399856" "139399856" "subst" "3.68632E-5" "02329" "NOTCH1_000060" "g.139399856T>C" "" "" "" "NOTCH1(NM_017617.5):c.4492A>G (p.K1498E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505404T>C" "" "VUS" "" "0000298620" "0" "10" "9" "139399812" "139399812" "subst" "0.001538" "02329" "NOTCH1_000058" "g.139399812G>A" "" "" "" "NOTCH1(NM_017617.5):c.4536C>T (p.A1512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505360G>A" "" "benign" "" "0000298621" "0" "30" "9" "139399517" "139399517" "subst" "0.000454102" "02329" "NOTCH1_000056" "g.139399517G>A" "" "" "" "NOTCH1(NM_017617.5):c.4626C>T (p.D1542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505065G>A" "" "likely benign" "" "0000298622" "0" "30" "9" "139399256" "139399256" "subst" "0.00166822" "02329" "NOTCH1_000054" "g.139399256G>A" "" "" "" "NOTCH1(NM_017617.5):c.4887C>T (p.H1629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136504804G>A" "" "likely benign" "" "0000298623" "0" "30" "9" "139397794" "139397797" "del" "0" "02329" "NOTCH1_000050" "g.139397794_139397797del" "" "" "" "NOTCH1(NM_017617.5):c.5019-13_5019-10del, NOTCH1(NM_017617.5):c.5019-13_5019-10delATTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136503342_136503345del" "" "likely benign" "" "0000298624" "0" "30" "9" "139397728" "139397728" "subst" "0.00331976" "02329" "NOTCH1_000049" "g.139397728C>T" "" "" "" "NOTCH1(NM_017617.5):c.5073G>A (p.Q1691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136503276C>T" "" "likely benign" "" "0000298625" "0" "10" "9" "139397707" "139397707" "subst" "0.448181" "02329" "NOTCH1_000048" "g.139397707G>A" "" "" "" "NOTCH1(NM_017617.5):c.5094C>T (p.D1698=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136503255G>A" "" "benign" "" "0000298626" "0" "10" "9" "139396950" "139396950" "subst" "0.00146604" "02329" "NOTCH1_000047" "g.139396950C>T" "" "" "" "NOTCH1(NM_017617.5):c.5168-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136502498C>T" "" "benign" "" "0000298627" "0" "30" "9" "139396944" "139396944" "subst" "0.000114315" "02329" "NOTCH1_000046" "g.139396944C>T" "" "" "" "NOTCH1(NM_017617.5):c.5168-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136502492C>T" "" "likely benign" "" "0000298628" "0" "30" "9" "139396933" "139396933" "subst" "0.0024899" "02329" "NOTCH1_000045" "g.139396933G>A" "" "" "" "NOTCH1(NM_017617.5):c.5175C>T (p.T1725=, p.(Thr1725=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136502481G>A" "" "likely benign" "" "0000298629" "0" "30" "9" "139396932" "139396932" "subst" "0" "02329" "NOTCH1_000044" "g.139396932C>T" "" "" "" "NOTCH1(NM_017617.5):c.5176G>A (p.V1726M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136502480C>T" "" "likely benign" "" "0000298630" "0" "30" "9" "139396338" "139396338" "subst" "0.000126676" "02329" "NOTCH1_000035" "g.139396338G>A" "" "" "" "NOTCH1(NM_017617.5):c.5500C>T (p.L1834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136501886G>A" "" "likely benign" "" "0000298631" "0" "30" "9" "139396181" "139396181" "subst" "0.000197843" "02329" "NOTCH1_000034" "g.139396181T>C" "" "" "" "NOTCH1(NM_017617.5):c.5638+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136501729T>C" "" "likely benign" "" "0000298632" "0" "10" "9" "139395311" "139395311" "subst" "0.0664716" "02329" "NOTCH1_000033" "g.139395311G>A" "" "" "" "NOTCH1(NM_017617.5):c.5639-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136500859G>A" "" "benign" "" "0000298633" "0" "30" "9" "139395265" "139395265" "subst" "0.000561109" "02329" "NOTCH1_000032" "g.139395265G>A" "" "" "" "NOTCH1(NM_017617.5):c.5673C>T (p.S1891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136500813G>A" "" "likely benign" "" "0000298634" "0" "10" "9" "139395259" "139395259" "subst" "0.00337727" "02329" "NOTCH1_000031" "g.139395259G>A" "" "" "" "NOTCH1(NM_017617.5):c.5679C>T (p.G1893=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136500807G>A" "" "benign" "" "0000298635" "0" "50" "9" "139395158" "139395158" "subst" "0" "02329" "NOTCH1_000030" "g.139395158G>A" "" "" "" "NOTCH1(NM_017617.5):c.5780C>T (p.T1927M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136500706G>A" "" "VUS" "" "0000298636" "0" "10" "9" "139393658" "139393658" "subst" "0.00254514" "02329" "NOTCH1_000027" "g.139393658C>T" "" "" "" "NOTCH1(NM_017617.5):c.5988G>A (p.T1996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136499206C>T" "" "benign" "" "0000298637" "0" "30" "9" "139393598" "139393598" "subst" "0" "02329" "NOTCH1_000026" "g.139393598G>A" "" "" "" "NOTCH1(NM_017617.5):c.6048C>T (p.N2016=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136499146G>A" "" "likely benign" "" "0000298638" "0" "30" "9" "139417423" "139417423" "subst" "0.000123377" "02329" "NOTCH1_000167" "g.139417423G>A" "" "" "" "NOTCH1(NM_017617.5):c.621C>T (p.R207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136522971G>A" "" "likely benign" "" "0000298639" "0" "50" "9" "139391916" "139391916" "subst" "0" "02329" "NOTCH1_000023" "g.139391916T>G" "" "" "" "NOTCH1(NM_017617.5):c.6275A>C (p.H2092P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136497464T>G" "" "VUS" "" "0000298640" "0" "10" "9" "139391737" "139391737" "subst" "0.0011043" "02329" "NOTCH1_000019" "g.139391737C>G" "" "" "" "NOTCH1(NM_017617.3):c.6454G>C (p.(Gly2152Arg)), NOTCH1(NM_017617.5):c.6454G>C (p.G2152R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136497285C>G" "" "benign" "" "0000298641" "0" "30" "9" "139417381" "139417381" "subst" "0.00147569" "02329" "NOTCH1_000166" "g.139417381G>A" "" "" "" "NOTCH1(NM_017617.5):c.663C>T (p.P221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136522929G>A" "" "likely benign" "" "0000298642" "0" "10" "9" "139391543" "139391543" "subst" "0.0119732" "02329" "NOTCH1_000017" "g.139391543C>T" "" "" "" "NOTCH1(NM_017617.5):c.6648G>A (p.P2216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136497091C>T" "" "benign" "" "0000298643" "0" "10" "9" "139391338" "139391338" "subst" "0.0308615" "02329" "NOTCH1_000013" "g.139391338C>T" "" "" "" "NOTCH1(NM_017617.3):c.6853G>A (p.(Val2285Ile)), NOTCH1(NM_017617.5):c.6853G>A (p.V2285I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496886C>T" "" "benign" "" "0000298644" "0" "10" "9" "139391321" "139391321" "subst" "0.00260798" "02329" "NOTCH1_000012" "g.139391321G>A" "" "" "" "NOTCH1(NM_017617.5):c.6870C>T (p.S2290=, p.(Ser2290=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496869G>A" "" "benign" "" "0000298645" "0" "10" "9" "139417333" "139417333" "subst" "0.00533433" "02329" "NOTCH1_000165" "g.139417333G>A" "" "" "" "NOTCH1(NM_017617.5):c.711C>T (p.G237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136522881G>A" "" "benign" "" "0000298646" "0" "10" "9" "139390982" "139390982" "subst" "0.00120483" "02329" "NOTCH1_000009" "g.139390982C>T" "" "" "" "NOTCH1(NM_017617.5):c.7209G>A (p.Q2403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496530C>T" "" "benign" "" "0000298647" "0" "10" "9" "139390958" "139390958" "subst" "0.00760072" "02329" "NOTCH1_000008" "g.139390958T>C" "" "" "" "NOTCH1(NM_017617.5):c.7233A>G (p.P2411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496506T>C" "" "benign" "" "0000298648" "0" "30" "9" "139390940" "139390940" "subst" "0.000110972" "02329" "NOTCH1_000007" "g.139390940C>T" "" "" "" "NOTCH1(NM_017617.5):c.7251G>A (p.P2417=, p.(Pro2417=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496488C>T" "" "likely benign" "" "0000298649" "0" "30" "9" "139390902" "139390902" "subst" "0.000421223" "02329" "NOTCH1_000006" "g.139390902C>G" "" "" "" "NOTCH1(NM_017617.5):c.7289G>C (p.G2430A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496450C>G" "" "likely benign" "" "0000298650" "0" "30" "9" "139417283" "139417283" "subst" "4.02912E-5" "02329" "NOTCH1_000164" "g.139417283G>A" "" "" "" "NOTCH1(NM_017617.5):c.742+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136522831G>A" "" "likely benign" "" "0000298651" "0" "30" "9" "139390585" "139390585" "subst" "0.000351085" "02329" "NOTCH1_000003" "g.139390585C>T" "" "" "" "NOTCH1(NM_017617.3):c.7606G>A (p.(Val2536Ile)), NOTCH1(NM_017617.5):c.7606G>A (p.V2536I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496133C>T" "" "likely benign" "" "0000298652" "0" "10" "9" "139413908" "139413908" "subst" "0.135305" "02329" "NOTCH1_000163" "g.139413908C>T" "" "" "" "NOTCH1(NM_017617.5):c.852G>A (p.P284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136519456C>T" "" "benign" "" "0000298653" "0" "30" "9" "139413877" "139413877" "subst" "0.000281759" "02329" "NOTCH1_000162" "g.139413877G>A" "" "" "" "NOTCH1(NM_017617.5):c.865+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136519425G>A" "" "likely benign" "" "0000300289" "0" "50" "9" "139412223" "139412223" "subst" "0" "02326" "NOTCH1_000152" "g.139412223G>T" "" "" "" "NOTCH1(NM_017617.5):c.1422C>A (p.F474L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136517771G>T" "" "VUS" "" "0000300290" "0" "50" "9" "139412222" "139412222" "subst" "0" "02326" "NOTCH1_000151" "g.139412222G>T" "" "" "" "NOTCH1(NM_017617.5):c.1423C>A (p.Q475K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136517770G>T" "" "VUS" "" "0000300291" "0" "50" "9" "139418394" "139418394" "subst" "0" "02326" "NOTCH1_000176" "g.139418394G>A" "" "" "" "NOTCH1(NM_017617.5):c.178C>T (p.P60S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136523942G>A" "" "VUS" "" "0000300292" "0" "30" "9" "139409089" "139409089" "subst" "0.000631735" "02326" "NOTCH1_000126" "g.139409089C>T" "" "" "" "NOTCH1(NM_017617.5):c.2080G>A (p.E694K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136514637C>T" "" "likely benign" "" "0000300293" "0" "30" "9" "139407872" "139407872" "subst" "0.000481519" "02326" "NOTCH1_000118" "g.139407872G>A" "" "" "" "NOTCH1(NM_017617.5):c.2325C>T (p.Y775=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136513420G>A" "" "likely benign" "" "0000300294" "0" "30" "9" "139405272" "139405272" "subst" "8.51426E-6" "02326" "NOTCH1_000112" "g.139405272G>A" "" "" "" "NOTCH1(NM_017617.5):c.2588-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136510820G>A" "" "likely benign" "" "0000300295" "0" "30" "9" "139405111" "139405111" "subst" "0.00171278" "02326" "NOTCH1_000105" "g.139405111G>A" "" "" "" "NOTCH1(NM_017617.3):c.2734C>T (p.(Arg912Trp)), NOTCH1(NM_017617.5):c.2734C>T (p.R912W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136510659G>A" "" "likely benign" "" "0000300296" "0" "30" "9" "139403532" "139403532" "subst" "0.000112148" "02326" "NOTCH1_000097" "g.139403532G>A" "" "" "" "NOTCH1(NM_017617.5):c.2970-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136509080G>A" "" "likely benign" "" "0000300297" "0" "30" "9" "139401429" "139401429" "subst" "0.000243418" "02326" "NOTCH1_000082" "g.139401429C>T" "" "" "" "NOTCH1(NM_017617.5):c.3644-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136506977C>T" "" "likely benign" "" "0000300298" "0" "30" "9" "139401233" "139401233" "subst" "0.0153129" "02326" "NOTCH1_000077" "g.139401233C>T" "" "" "" "NOTCH1(NM_017617.3):c.3836G>A (p.(Arg1279His)), NOTCH1(NM_017617.5):c.3836G>A (p.R1279H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136506781C>T" "" "likely benign" "" "0000300299" "0" "30" "9" "139418179" "139418179" "subst" "3.00571E-5" "02326" "NOTCH1_000168" "g.139418179G>A" "" "" "" "NOTCH1(NM_017617.5):c.393C>T (p.P131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136523727G>A" "" "likely benign" "" "0000300300" "0" "10" "9" "139400219" "139400219" "subst" "0.0168987" "02326" "NOTCH1_000069" "g.139400219G>A" "" "" "" "NOTCH1(NM_017617.3):c.4129C>T (p.(Pro1377Ser)), NOTCH1(NM_017617.5):c.4129C>T (p.P1377S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505767G>A" "" "benign" "" "0000300301" "0" "30" "9" "139400218" "139400218" "subst" "0" "02326" "NOTCH1_000068" "g.139400218G>A" "" "" "" "NOTCH1(NM_017617.5):c.4130C>T (p.(Pro1377Leu), p.P1377L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505766G>A" "" "likely benign" "" "0000300302" "0" "30" "9" "139400180" "139400180" "subst" "0.000602641" "02326" "NOTCH1_000067" "g.139400180G>T" "" "" "" "NOTCH1(NM_017617.3):c.4168C>A (p.(Pro1390Thr)), NOTCH1(NM_017617.5):c.4168C>A (p.P1390T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505728G>T" "" "likely benign" "" "0000300303" "0" "30" "9" "139400094" "139400094" "subst" "0" "02326" "NOTCH1_000065" "g.139400094G>C" "" "" "" "NOTCH1(NM_017617.5):c.4254C>G (p.A1418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505642G>C" "" "likely benign" "" "0000300304" "0" "30" "9" "139399941" "139399941" "subst" "0.000379651" "02326" "NOTCH1_000061" "g.139399941G>A" "" "" "" "NOTCH1(NM_017617.5):c.4407C>T (p.N1469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505489G>A" "" "likely benign" "" "0000300305" "0" "30" "9" "139396944" "139396944" "subst" "0.000114315" "02326" "NOTCH1_000046" "g.139396944C>T" "" "" "" "NOTCH1(NM_017617.5):c.5168-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136502492C>T" "" "likely benign" "" "0000300306" "0" "30" "9" "139396710" "139396710" "subst" "0.000107643" "02326" "NOTCH1_000040" "g.139396710C>T" "" "" "" "NOTCH1(NM_017617.5):c.5384+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136502258C>T" "" "likely benign" "" "0000300307" "0" "10" "9" "139391338" "139391338" "subst" "0.0308615" "02326" "NOTCH1_000013" "g.139391338C>T" "" "" "" "NOTCH1(NM_017617.3):c.6853G>A (p.(Val2285Ile)), NOTCH1(NM_017617.5):c.6853G>A (p.V2285I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496886C>T" "" "benign" "" "0000300308" "0" "50" "9" "139390794" "139390794" "subst" "4.20349E-5" "02326" "NOTCH1_000005" "g.139390794G>A" "" "" "" "NOTCH1(NM_017617.5):c.7397C>T (p.T2466M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496342G>A" "" "VUS" "" "0000304255" "0" "30" "9" "139412698" "139412698" "subst" "0.000162443" "01943" "NOTCH1_000159" "g.139412698G>A" "" "" "" "NOTCH1(NM_017617.5):c.1146C>T (p.N382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136518246G>A" "" "likely benign" "" "0000304256" "0" "30" "9" "139412697" "139412697" "subst" "4.16622E-6" "01943" "NOTCH1_000158" "g.139412697C>T" "" "" "" "NOTCH1(NM_017617.5):c.1147G>A (p.E383K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136518245C>T" "" "likely benign" "" "0000304257" "0" "50" "9" "139412350" "139412350" "subst" "0.000196123" "01943" "NOTCH1_000156" "g.139412350G>A" "" "" "" "NOTCH1(NM_017617.5):c.1295C>T (p.T432M, p.(Thr432Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136517898G>A" "" "VUS" "" "0000304258" "0" "30" "9" "139412265" "139412265" "subst" "1.631E-5" "01943" "NOTCH1_000155" "g.139412265C>T" "" "" "" "NOTCH1(NM_017617.5):c.1380G>A (p.P460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136517813C>T" "" "likely benign" "" "0000304259" "0" "30" "9" "139412256" "139412256" "subst" "0.000513849" "01943" "NOTCH1_000154" "g.139412256G>A" "" "" "" "NOTCH1(NM_017617.5):c.1389C>T (p.N463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136517804G>A" "" "likely benign" "" "0000304260" "0" "30" "9" "139412205" "139412205" "subst" "8.19309E-6" "01943" "NOTCH1_000150" "g.139412205G>T" "" "" "" "NOTCH1(NM_017617.5):c.1440C>A (p.P480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136517753G>T" "" "likely benign" "" "0000304261" "0" "30" "9" "139412196" "139412196" "subst" "3.28499E-5" "01943" "NOTCH1_000147" "g.139412196C>T" "" "" "" "NOTCH1(NM_017617.5):c.1441+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136517744C>T" "" "likely benign" "" "0000304262" "0" "50" "9" "139410139" "139410139" "subst" "0.000367435" "01943" "NOTCH1_000137" "g.139410139T>C" "" "" "" "NOTCH1(NM_017617.5):c.1699A>G (p.I567V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515687T>C" "" "VUS" "" "0000304263" "0" "50" "9" "139410120" "139410120" "subst" "0" "01943" "NOTCH1_000136" "g.139410120T>G" "" "" "" "NOTCH1(NM_017617.5):c.1718A>C (p.D573A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515668T>G" "" "VUS" "" "0000304264" "0" "50" "9" "139410064" "139410064" "subst" "1.27466E-5" "01943" "NOTCH1_000135" "g.139410064G>A" "" "" "" "NOTCH1(NM_017617.5):c.1774C>T (p.R592C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515612G>A" "" "VUS" "" "0000304265" "0" "30" "9" "139409975" "139409975" "subst" "4.11879E-5" "01943" "NOTCH1_000132" "g.139409975G>A" "" "" "" "NOTCH1(NM_017617.5):c.1863C>T (p.R621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515523G>A" "" "likely benign" "" "0000304266" "0" "30" "9" "139409969" "139409969" "subst" "0.000139987" "01943" "NOTCH1_000131" "g.139409969G>A" "" "" "" "NOTCH1(NM_017617.5):c.1869C>T (p.N623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515517G>A" "" "likely benign" "" "0000304267" "0" "30" "9" "139409794" "139409794" "subst" "0.000866946" "01943" "NOTCH1_000129" "g.139409794G>A" "" "" "" "NOTCH1(NM_017617.5):c.1962C>T (p.T654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515342G>A" "" "likely benign" "" "0000304268" "0" "30" "9" "139409120" "139409120" "subst" "0.000990393" "01943" "NOTCH1_000127" "g.139409120C>T" "" "" "" "NOTCH1(NM_017617.5):c.2049G>A (p.A683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136514668C>T" "" "likely benign" "" "0000304269" "0" "30" "9" "139409089" "139409089" "subst" "0.000631735" "01943" "NOTCH1_000126" "g.139409089C>T" "" "" "" "NOTCH1(NM_017617.5):c.2080G>A (p.E694K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136514637C>T" "" "likely benign" "" "0000304270" "0" "30" "9" "139409057" "139409057" "subst" "2.55957E-5" "01943" "NOTCH1_000125" "g.139409057G>A" "" "" "" "NOTCH1(NM_017617.5):c.2112C>T (p.C704=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136514605G>A" "" "likely benign" "" "0000304271" "0" "30" "9" "139408988" "139408988" "subst" "2.35055E-5" "01943" "NOTCH1_000124" "g.139408988G>A" "" "" "" "NOTCH1(NM_017617.5):c.2181C>T (p.H727=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136514536G>A" "" "likely benign" "" "0000304272" "0" "30" "9" "139408952" "139408952" "subst" "0.00340413" "01943" "NOTCH1_000121" "g.139408952C>T" "" "" "" "NOTCH1(NM_017617.5):c.2207+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136514500C>T" "" "likely benign" "" "0000304273" "0" "30" "9" "139407872" "139407872" "subst" "0.000481519" "01943" "NOTCH1_000118" "g.139407872G>A" "" "" "" "NOTCH1(NM_017617.5):c.2325C>T (p.Y775=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136513420G>A" "" "likely benign" "" "0000304274" "0" "50" "9" "139407859" "139407859" "subst" "2.44616E-5" "01943" "NOTCH1_000117" "g.139407859G>A" "" "" "" "NOTCH1(NM_017617.5):c.2338C>T (p.R780W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136513407G>A" "" "VUS" "" "0000304275" "0" "30" "9" "139405615" "139405615" "subst" "3.679E-5" "01943" "NOTCH1_000114" "g.139405615G>A" "" "" "" "NOTCH1(NM_017617.5):c.2576C>T (p.T859M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136511163G>A" "" "likely benign" "" "0000304276" "0" "30" "9" "139418309" "139418309" "subst" "0.00049127" "01943" "NOTCH1_000173" "g.139418309C>T" "" "" "" "NOTCH1(NM_017617.5):c.263G>A (p.S88N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136523857C>T" "" "likely benign" "" "0000304277" "0" "10" "9" "139405199" "139405199" "subst" "0.00125063" "01943" "NOTCH1_000110" "g.139405199T>A" "" "" "" "NOTCH1(NM_017617.5):c.2646A>T (p.A882=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136510747T>A" "" "benign" "" "0000304278" "0" "50" "9" "139405140" "139405140" "subst" "8.41581E-6" "01943" "NOTCH1_000107" "g.139405140C>T" "" "" "" "NOTCH1(NM_017617.5):c.2705G>A (p.R902H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136510688C>T" "" "VUS" "" "0000304279" "0" "30" "9" "139405111" "139405111" "subst" "0.00171278" "01943" "NOTCH1_000105" "g.139405111G>A" "" "" "" "NOTCH1(NM_017617.3):c.2734C>T (p.(Arg912Trp)), NOTCH1(NM_017617.5):c.2734C>T (p.R912W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136510659G>A" "" "likely benign" "" "0000304280" "0" "30" "9" "139404349" "139404349" "subst" "0.000142361" "01943" "NOTCH1_000101" "g.139404349G>A" "" "" "" "NOTCH1(NM_017617.5):c.2805C>T (p.P935=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136509897G>A" "" "likely benign" "" "0000304281" "0" "10" "9" "139418260" "139418260" "subst" "0.587179" "01943" "NOTCH1_000171" "g.139418260A>G" "" "" "" "NOTCH1(NM_017617.5):c.311_312delATinsAC (p.N104=), NOTCH1(NM_017617.5):c.312T>C (p.N104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136523808A>G" "" "benign" "" "0000304282" "0" "30" "9" "139403378" "139403378" "subst" "0.000844878" "01943" "NOTCH1_000096" "g.139403378C>T" "" "" "" "NOTCH1(NM_017617.5):c.3115G>A (p.G1039S, p.(Gly1039Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136508926C>T" "" "likely benign" "" "0000304283" "0" "50" "9" "139418261" "139418261" "subst" "0.00113459" "01943" "NOTCH1_000172" "g.139418261T>C" "" "" "" "NOTCH1(NM_017617.5):c.311A>G (p.N104S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136523809T>C" "" "VUS" "" "0000304284" "0" "50" "9" "139402798" "139402798" "subst" "4.06775E-6" "01943" "NOTCH1_000095" "g.139402798C>T" "" "" "" "NOTCH1(NM_017617.5):c.3211G>A (p.G1071S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136508346C>T" "" "VUS" "" "0000304285" "0" "10" "9" "139402760" "139402760" "subst" "0.00142176" "01943" "NOTCH1_000094" "g.139402760G>A" "" "" "" "NOTCH1(NM_017617.5):c.3249C>T (p.C1083=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136508308G>A" "" "benign" "" "0000304286" "0" "50" "9" "139402748" "139402748" "subst" "4.07521E-6" "01943" "NOTCH1_000093" "g.139402748G>T" "" "" "" "NOTCH1(NM_017617.3):c.3261C>A (p.(Ser1087Arg)), NOTCH1(NM_017617.5):c.3261C>A (p.S1087R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136508296G>T" "" "VUS" "" "0000304287" "0" "30" "9" "139402721" "139402721" "subst" "8.97989E-5" "01943" "NOTCH1_000092" "g.139402721C>G" "" "" "" "NOTCH1(NM_017617.5):c.3288G>C (p.V1096=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136508269C>G" "" "likely benign" "" "0000304288" "0" "30" "9" "139402715" "139402715" "subst" "0.00287957" "01943" "NOTCH1_000091" "g.139402715G>A" "" "" "" "NOTCH1(NM_017617.5):c.3294C>T (p.S1098=, p.(Ser1098=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136508263G>A" "" "likely benign" "" "0000304289" "0" "10" "9" "139402694" "139402694" "subst" "0.00255583" "01943" "NOTCH1_000090" "g.139402694C>A" "" "" "" "NOTCH1(NM_017617.5):c.3315G>T (p.A1105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136508242C>A" "" "benign" "" "0000304290" "0" "10" "9" "139402663" "139402663" "subst" "0.632354" "01943" "NOTCH1_000089" "g.139402663T>C" "" "" "" "NOTCH1(NM_017617.5):c.3325+21A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136508211T>C" "" "benign" "" "0000304291" "0" "30" "9" "139402404" "139402404" "subst" "8.18317E-5" "01943" "NOTCH1_000085" "g.139402404C>T" "" "" "" "NOTCH1(NM_017617.5):c.3510+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136507952C>T" "" "likely benign" "" "0000304292" "0" "10" "9" "139401899" "139401899" "subst" "0.00339779" "01943" "NOTCH1_000084" "g.139401899C>T" "" "" "" "NOTCH1(NM_017617.5):c.3511-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136507447C>T" "" "benign" "" "0000304293" "0" "30" "9" "139401429" "139401429" "subst" "0.000243418" "01943" "NOTCH1_000082" "g.139401429C>T" "" "" "" "NOTCH1(NM_017617.5):c.3644-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136506977C>T" "" "likely benign" "" "0000304294" "0" "30" "9" "139418204" "139418204" "subst" "0.000950951" "01943" "NOTCH1_000170" "g.139418204G>A" "" "" "" "NOTCH1(NM_017617.3):c.368C>T (p.(Thr123Met)), NOTCH1(NM_017617.5):c.368C>T (p.T123M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136523752G>A" "" "likely benign" "" "0000304295" "0" "30" "9" "139401346" "139401346" "subst" "1.66485E-5" "01943" "NOTCH1_000080" "g.139401346G>A" "" "" "" "NOTCH1(NM_017617.5):c.3723C>T (p.N1241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136506894G>A" "" "likely benign" "" "0000304296" "0" "10" "9" "139401289" "139401289" "subst" "0.00175239" "01943" "NOTCH1_000079" "g.139401289C>G" "" "" "" "NOTCH1(NM_017617.3):c.3780G>C (p.(Val1260=)), NOTCH1(NM_017617.5):c.3780G>C (p.V1260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136506837C>G" "" "benign" "" "0000304297" "0" "30" "9" "139401237" "139401237" "subst" "0" "01943" "NOTCH1_000078" "g.139401237C>T" "" "" "" "NOTCH1(NM_017617.5):c.3832G>A (p.A1278T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136506785C>T" "" "likely benign" "" "0000304298" "0" "30" "9" "139418182" "139418182" "subst" "9.41612E-5" "01943" "NOTCH1_000169" "g.139418182C>T" "" "" "" "NOTCH1(NM_017617.5):c.390G>A (p.P130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136523730C>T" "" "likely benign" "" "0000304299" "0" "90" "9" "139401037" "139401038" "del" "0" "01943" "NOTCH1_000076" "g.139401037_139401038del" "" "" "" "NOTCH1(NM_017617.5):c.3958_3959delGG (p.G1320Hfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136506585_136506586del" "" "pathogenic" "" "0000304300" "0" "50" "9" "139401034" "139401034" "subst" "0" "01943" "NOTCH1_000075" "g.139401034C>A" "" "" "" "NOTCH1(NM_017617.5):c.3959G>T (p.G1320V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136506582C>A" "" "VUS" "" "0000304301" "0" "30" "9" "139401027" "139401027" "subst" "3.74513E-5" "01943" "NOTCH1_000074" "g.139401027G>A" "" "" "" "NOTCH1(NM_017617.5):c.3966C>T (p.C1322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136506575G>A" "" "likely benign" "" "0000304302" "0" "50" "9" "139400979" "139400979" "subst" "0.000154969" "01943" "NOTCH1_000073" "g.139400979C>T" "" "" "" "NOTCH1(NM_017617.5):c.4014G>A (p.A1338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136506527C>T" "" "VUS" "" "0000304303" "0" "50" "9" "139400299" "139400299" "subst" "0.000609359" "01943" "NOTCH1_000071" "g.139400299C>A" "" "" "" "NOTCH1(NM_017617.3):c.4049G>T (p.(Arg1350Leu)), NOTCH1(NM_017617.5):c.4049G>T (p.R1350L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505847C>A" "" "VUS" "" "0000304304" "0" "50" "9" "139400291" "139400291" "subst" "0" "01943" "NOTCH1_000070" "g.139400291C>T" "" "" "" "NOTCH1(NM_017617.5):c.4057G>A (p.G1353S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505839C>T" "" "VUS" "" "0000304305" "0" "50" "9" "139400180" "139400180" "subst" "0.000602641" "01943" "NOTCH1_000067" "g.139400180G>T" "" "" "" "NOTCH1(NM_017617.3):c.4168C>A (p.(Pro1390Thr)), NOTCH1(NM_017617.5):c.4168C>A (p.P1390T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505728G>T" "" "VUS" "" "0000304306" "0" "30" "9" "139400127" "139400127" "subst" "1.65566E-5" "01943" "NOTCH1_000066" "g.139400127G>A" "" "" "" "NOTCH1(NM_017617.5):c.4221C>T (p.S1407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505675G>A" "" "likely benign" "" "0000304307" "0" "30" "9" "139400058" "139400058" "subst" "0.000313141" "01943" "NOTCH1_000064" "g.139400058G>A" "" "" "" "NOTCH1(NM_017617.5):c.4290C>T (p.Y1430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505606G>A" "" "likely benign" "" "0000304308" "0" "30" "9" "139400042" "139400042" "subst" "0" "01943" "NOTCH1_000063" "g.139400042C>G" "" "" "" "NOTCH1(NM_017617.5):c.4306G>C (p.A1436P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505590C>G" "" "likely benign" "" "0000304309" "0" "30" "9" "139400004" "139400004" "subst" "2.47498E-5" "01943" "NOTCH1_000062" "g.139400004C>T" "" "" "" "NOTCH1(NM_017617.5):c.4344G>A (p.A1448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505552C>T" "" "likely benign" "" "0000304310" "0" "30" "9" "139399941" "139399941" "subst" "0.000379651" "01943" "NOTCH1_000061" "g.139399941G>A" "" "" "" "NOTCH1(NM_017617.5):c.4407C>T (p.N1469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505489G>A" "" "likely benign" "" "0000304311" "0" "30" "9" "139399828" "139399828" "subst" "0" "01943" "NOTCH1_000059" "g.139399828C>T" "" "" "" "NOTCH1(NM_017617.5):c.4520G>A (p.S1507N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505376C>T" "" "likely benign" "" "0000304312" "0" "30" "9" "139399812" "139399812" "subst" "0.001538" "01943" "NOTCH1_000058" "g.139399812G>A" "" "" "" "NOTCH1(NM_017617.5):c.4536C>T (p.A1512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505360G>A" "" "likely benign" "" "0000304313" "0" "90" "9" "139399780" "139399787" "del" "0" "01943" "NOTCH1_000057" "g.139399780_139399787del" "" "" "" "NOTCH1(NM_017617.5):c.4564_4571delCAGCGTGC (p.Q1522Gfs*85)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505328_136505335del" "" "pathogenic" "" "0000304314" "0" "50" "9" "139399434" "139399434" "subst" "0" "01943" "NOTCH1_000055" "g.139399434G>A" "" "" "" "NOTCH1(NM_017617.5):c.4709C>T (p.A1570V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136504982G>A" "" "VUS" "" "0000304315" "0" "30" "9" "139399256" "139399256" "subst" "0.00166822" "01943" "NOTCH1_000054" "g.139399256G>A" "" "" "" "NOTCH1(NM_017617.5):c.4887C>T (p.H1629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136504804G>A" "" "likely benign" "" "0000304316" "0" "30" "9" "139399213" "139399213" "subst" "0.000311734" "01943" "NOTCH1_000053" "g.139399213G>A" "" "" "" "NOTCH1(NM_017617.5):c.4930C>T (p.L1644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136504761G>A" "" "likely benign" "" "0000304317" "0" "30" "9" "139399158" "139399158" "subst" "0" "01943" "NOTCH1_000052" "g.139399158C>T" "" "" "" "NOTCH1(NM_017617.5):c.4985G>A (p.R1662Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136504706C>T" "" "likely benign" "" "0000304318" "0" "10" "9" "139399132" "139399132" "subst" "0.0024396" "01943" "NOTCH1_000051" "g.139399132C>T" "" "" "" "NOTCH1(NM_017617.3):c.5011G>A (p.(Val1671Ile)), NOTCH1(NM_017617.5):c.5011G>A (p.V1671I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136504680C>T" "" "benign" "" "0000304319" "0" "30" "9" "139397728" "139397728" "subst" "0.00331976" "01943" "NOTCH1_000049" "g.139397728C>T" "" "" "" "NOTCH1(NM_017617.5):c.5073G>A (p.Q1691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136503276C>T" "" "likely benign" "" "0000304320" "0" "10" "9" "139397707" "139397707" "subst" "0.448181" "01943" "NOTCH1_000048" "g.139397707G>A" "" "" "" "NOTCH1(NM_017617.5):c.5094C>T (p.D1698=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136503255G>A" "" "benign" "" "0000304321" "0" "30" "9" "139396933" "139396933" "subst" "0.0024899" "01943" "NOTCH1_000045" "g.139396933G>A" "" "" "" "NOTCH1(NM_017617.5):c.5175C>T (p.T1725=, p.(Thr1725=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136502481G>A" "" "likely benign" "" "0000304322" "0" "30" "9" "139396919" "139396919" "subst" "0.000233453" "01943" "NOTCH1_000043" "g.139396919G>A" "" "" "" "NOTCH1(NM_017617.5):c.5189C>T (p.P1730L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136502467G>A" "" "likely benign" "" "0000304323" "0" "30" "9" "139396886" "139396886" "subst" "0" "01943" "NOTCH1_000042" "g.139396886G>A" "" "" "" "NOTCH1(NM_017617.5):c.5222C>T (p.A1741V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136502434G>A" "" "likely benign" "" "0000304324" "0" "50" "9" "139396826" "139396826" "subst" "8.3647E-6" "01943" "NOTCH1_000041" "g.139396826C>T" "" "" "" "NOTCH1(NM_017617.5):c.5282G>A (p.R1761Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136502374C>T" "" "VUS" "" "0000304325" "0" "50" "9" "139396538" "139396538" "subst" "1.22292E-5" "01943" "NOTCH1_000039" "g.139396538G>T" "" "" "" "NOTCH1(NM_017617.3):c.5387C>A (p.(Pro1796His)), NOTCH1(NM_017617.5):c.5387C>A (p.P1796H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136502086G>T" "" "VUS" "" "0000304326" "0" "30" "9" "139396504" "139396504" "subst" "5.69634E-5" "01943" "NOTCH1_000037" "g.139396504G>A" "" "" "" "NOTCH1(NM_017617.5):c.5421C>T (p.D1807=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136502052G>A" "" "likely benign" "" "0000304327" "0" "10" "9" "139396480" "139396480" "subst" "0.000765024" "01943" "NOTCH1_000036" "g.139396480G>A" "" "" "" "NOTCH1(NM_017617.5):c.5445C>T (p.D1815=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136502028G>A" "" "benign" "" "0000304328" "0" "50" "9" "139395101" "139395101" "subst" "2.456E-5" "01943" "NOTCH1_000029" "g.139395101C>T" "" "" "" "NOTCH1(NM_017617.5):c.5837G>A (p.R1946H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136500649C>T" "" "VUS" "" "0000304329" "0" "50" "9" "139393675" "139393675" "subst" "8.15056E-6" "01943" "NOTCH1_000028" "g.139393675G>A" "" "" "" "NOTCH1(NM_017617.5):c.5971C>T (p.R1991C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136499223G>A" "" "VUS" "" "0000304330" "0" "30" "9" "139393658" "139393658" "subst" "0.00254514" "01943" "NOTCH1_000027" "g.139393658C>T" "" "" "" "NOTCH1(NM_017617.5):c.5988G>A (p.T1996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136499206C>T" "" "likely benign" "" "0000304331" "0" "30" "9" "139438563" "139438563" "subst" "0" "01943" "NOTCH1_000179" "g.139438563G>C" "" "" "" "NOTCH1(NM_017617.5):c.62-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136544111G>C" "" "likely benign" "" "0000304332" "0" "30" "9" "139391987" "139391987" "subst" "2.11823E-5" "01943" "NOTCH1_000025" "g.139391987G>A" "" "" "" "NOTCH1(NM_017617.5):c.6204C>T (p.A2068=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136497535G>A" "" "likely benign" "" "0000304333" "0" "50" "9" "139391893" "139391893" "subst" "2.90228E-5" "01943" "NOTCH1_000022" "g.139391893T>C" "" "" "" "NOTCH1(NM_017617.5):c.6298A>G (p.I2100V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136497441T>C" "" "VUS" "" "0000304334" "0" "30" "9" "139391794" "139391794" "subst" "0.00113386" "01943" "NOTCH1_000021" "g.139391794G>A" "" "" "" "NOTCH1(NM_017617.5):c.6397C>T (p.P2133S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136497342G>A" "" "likely benign" "" "0000304335" "0" "30" "9" "139391762" "139391762" "subst" "0.000196887" "01943" "NOTCH1_000020" "g.139391762G>A" "" "" "" "NOTCH1(NM_017617.5):c.6429C>T (p.N2143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136497310G>A" "" "likely benign" "" "0000304336" "0" "10" "9" "139438552" "139438552" "subst" "0.00165826" "01943" "NOTCH1_000178" "g.139438552G>A" "" "" "" "NOTCH1(NM_017617.3):c.64C>T (p.(Pro22Ser)), NOTCH1(NM_017617.5):c.64C>T (p.P22S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136544100G>A" "" "benign" "" "0000304337" "0" "30" "9" "139391670" "139391670" "subst" "4.08878E-5" "01943" "NOTCH1_000018" "g.139391670T>C" "" "" "" "NOTCH1(NM_017617.5):c.6521A>G (p.K2174R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136497218T>C" "" "likely benign" "" "0000304338" "0" "30" "9" "139391321" "139391321" "subst" "0.00260798" "01943" "NOTCH1_000012" "g.139391321G>A" "" "" "" "NOTCH1(NM_017617.5):c.6870C>T (p.S2290=, p.(Ser2290=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496869G>A" "" "likely benign" "" "0000304339" "0" "30" "9" "139391288" "139391288" "subst" "0" "01943" "NOTCH1_000010" "g.139391288G>A" "" "" "" "NOTCH1(NM_017617.5):c.6903C>T (p.S2301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496836G>A" "" "likely benign" "" "0000304340" "0" "30" "9" "139390940" "139390940" "subst" "0.000110972" "01943" "NOTCH1_000007" "g.139390940C>T" "" "" "" "NOTCH1(NM_017617.5):c.7251G>A (p.P2417=, p.(Pro2417=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496488C>T" "" "likely benign" "" "0000304341" "0" "30" "9" "139390697" "139390697" "subst" "0" "01943" "NOTCH1_000004" "g.139390697G>A" "" "" "" "NOTCH1(NM_017617.5):c.7494C>T (p.P2498=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496245G>A" "" "likely benign" "" "0000304342" "0" "30" "9" "139390585" "139390585" "subst" "0.000351085" "01943" "NOTCH1_000003" "g.139390585C>T" "" "" "" "NOTCH1(NM_017617.3):c.7606G>A (p.(Val2536Ile)), NOTCH1(NM_017617.5):c.7606G>A (p.V2536I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496133C>T" "" "likely benign" "" "0000304343" "0" "30" "9" "139438537" "139438537" "subst" "0" "01943" "NOTCH1_000177" "g.139438537G>T" "" "" "" "NOTCH1(NM_017617.5):c.79C>A (p.P27T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136544085G>T" "" "likely benign" "" "0000332910" "0" "50" "9" "139391403" "139391403" "subst" "0.000359597" "01804" "NOTCH1_000014" "g.139391403C>T" "" "" "" "NOTCH1(NM_017617.3):c.6788G>A (p.(Arg2263Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496951C>T" "" "VUS" "" "0000332912" "0" "30" "9" "139400299" "139400299" "subst" "0.000609359" "01804" "NOTCH1_000071" "g.139400299C>A" "" "" "" "NOTCH1(NM_017617.3):c.4049G>T (p.(Arg1350Leu)), NOTCH1(NM_017617.5):c.4049G>T (p.R1350L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505847C>A" "" "likely benign" "" "0000332913" "0" "30" "9" "139400320" "139400320" "subst" "0.00168771" "01804" "NOTCH1_000072" "g.139400320G>A" "" "" "" "NOTCH1(NM_017617.3):c.4028C>T (p.(Ala1343Val)), NOTCH1(NM_017617.5):c.4028C>T (p.A1343V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136505868G>A" "" "likely benign" "" "0000332914" "0" "50" "9" "139405117" "139405117" "subst" "1.29443E-5" "01804" "NOTCH1_000106" "g.139405117C>T" "" "" "" "NOTCH1(NM_017617.3):c.2728G>A (p.(Asp910Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136510665C>T" "" "VUS" "" "0000332915" "0" "30" "9" "139408977" "139408977" "subst" "4.01119E-5" "01804" "NOTCH1_000123" "g.139408977C>T" "" "" "" "NOTCH1(NM_017617.5):c.2192G>A (p.(Arg731Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136514525C>T" "" "likely benign" "" "0000332916" "0" "50" "9" "139409941" "139409941" "subst" "4.12776E-6" "01804" "NOTCH1_000130" "g.139409941T>A" "" "" "" "NOTCH1(NM_017617.3):c.1897A>T (p.(Thr633Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515489T>A" "" "VUS" "" "0000332917" "0" "50" "9" "139409976" "139409976" "subst" "0.00102534" "01804" "NOTCH1_000133" "g.139409976C>T" "" "" "" "NOTCH1(NM_017617.3):c.1862G>A (p.(Arg621His)), NOTCH1(NM_017617.5):c.1862G>A (p.R621H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136515524C>T" "" "VUS" "" "0000332920" "0" "50" "9" "139413135" "139413135" "subst" "1.22383E-5" "01804" "NOTCH1_000161" "g.139413135A>G" "" "" "" "NOTCH1(NM_017617.3):c.1007T>C (p.(Ile336Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136518683A>G" "" "VUS" "" "0000347022" "0" "50" "9" "139390822" "139390822" "subst" "0.000635477" "02327" "NOTCH1_000180" "g.139390822G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136496370G>C" "" "VUS" "" "0000537207" "0" "10" "9" "139390397" "139390397" "subst" "0" "02327" "NOTCH1_000183" "g.139390397C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136495945C>T" "" "benign" "" "0000537208" "0" "10" "9" "139390676" "139390676" "subst" "0.00253597" "02329" "NOTCH1_000181" "g.139390676A>C" "" "" "" "NOTCH1(NM_017617.5):c.7515T>G (p.P2505=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496224A>C" "" "benign" "" "0000537209" "0" "30" "9" "139390801" "139390801" "subst" "0.000263788" "01943" "NOTCH1_000184" "g.139390801G>A" "" "" "" "NOTCH1(NM_017617.5):c.7390C>T (p.L2464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496349G>A" "" "likely benign" "" "0000537210" "0" "50" "9" "139390828" "139390828" "subst" "1.38106E-5" "01943" "NOTCH1_000185" "g.139390828T>C" "" "" "" "NOTCH1(NM_017617.3):c.7363A>G (p.(Thr2455Ala)), NOTCH1(NM_017617.5):c.7363A>G (p.T2455A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496376T>C" "" "VUS" "" "0000537211" "0" "30" "9" "139390835" "139390835" "subst" "4.56263E-5" "02327" "NOTCH1_000186" "g.139390835C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496383C>T" "" "likely benign" "" "0000537212" "0" "50" "9" "139390875" "139390875" "subst" "0" "01943" "NOTCH1_000187" "g.139390875C>A" "" "" "" "NOTCH1(NM_017617.5):c.7316G>T (p.S2439I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496423C>A" "" "VUS" "" "0000537213" "0" "10" "9" "139390982" "139390982" "subst" "0.00120483" "01943" "NOTCH1_000009" "g.139390982C>T" "" "" "" "NOTCH1(NM_017617.5):c.7209G>A (p.Q2403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496530C>T" "" "benign" "" "0000537214" "0" "10" "9" "139391200" "139391200" "subst" "0.00134004" "01943" "NOTCH1_000188" "g.139391200C>T" "" "" "" "NOTCH1(NM_017617.5):c.6991G>A (p.A2331T, p.(Ala2331Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496748C>T" "" "benign" "" "0000537215" "0" "10" "9" "139391200" "139391200" "subst" "0.00134004" "02329" "NOTCH1_000188" "g.139391200C>T" "" "" "" "NOTCH1(NM_017617.5):c.6991G>A (p.A2331T, p.(Ala2331Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496748C>T" "" "benign" "" "0000537217" "0" "50" "9" "139391267" "139391267" "subst" "4.08423E-6" "02329" "NOTCH1_000190" "g.139391267G>A" "" "" "" "NOTCH1(NM_017617.5):c.6924C>T (p.C2308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496815G>A" "" "VUS" "" "0000537218" "0" "30" "9" "139391293" "139391293" "subst" "2.86072E-5" "01804" "NOTCH1_000191" "g.139391293C>T" "" "" "" "NOTCH1(NM_017617.5):c.6898G>A (p.(Gly2300Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496841C>T" "" "likely benign" "" "0000537219" "0" "50" "9" "139391294" "139391294" "subst" "2.86067E-5" "01943" "NOTCH1_000192" "g.139391294G>A" "" "" "" "NOTCH1(NM_017617.5):c.6897C>T (p.G2299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496842G>A" "" "VUS" "" "0000537221" "0" "10" "9" "139391321" "139391321" "subst" "0.00260798" "02327" "NOTCH1_000012" "g.139391321G>A" "" "" "" "NOTCH1(NM_017617.5):c.6870C>T (p.S2290=, p.(Ser2290=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496869G>A" "" "benign" "" "0000537222" "0" "30" "9" "139391338" "139391338" "subst" "0.0308615" "01804" "NOTCH1_000013" "g.139391338C>T" "" "" "" "NOTCH1(NM_017617.3):c.6853G>A (p.(Val2285Ile)), NOTCH1(NM_017617.5):c.6853G>A (p.V2285I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496886C>T" "" "likely benign" "" "0000537223" "0" "10" "9" "139391338" "139391338" "subst" "0.0308615" "02327" "NOTCH1_000013" "g.139391338C>T" "" "" "" "NOTCH1(NM_017617.3):c.6853G>A (p.(Val2285Ile)), NOTCH1(NM_017617.5):c.6853G>A (p.V2285I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496886C>T" "" "benign" "" "0000537224" "0" "10" "9" "139391414" "139391414" "subst" "0.00138205" "01943" "NOTCH1_000015" "g.139391414A>G" "" "" "" "NOTCH1(NM_017617.5):c.6777T>C (p.G2259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496962A>G" "" "benign" "" "0000537225" "0" "30" "9" "139391420" "139391420" "subst" "0" "01943" "NOTCH1_000193" "g.139391420C>A" "" "" "" "NOTCH1(NM_017617.5):c.6771G>T (p.A2257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496968C>A" "" "likely benign" "" "0000537226" "0" "30" "9" "139391420" "139391420" "subst" "2.11805E-5" "02329" "NOTCH1_000194" "g.139391420C>T" "" "" "" "NOTCH1(NM_017617.5):c.6771G>A (p.A2257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496968C>T" "" "likely benign" "" "0000537227" "0" "50" "9" "139391476" "139391476" "subst" "5.36915E-5" "02327" "NOTCH1_000195" "g.139391476C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497024C>T" "" "VUS" "" "0000537228" "0" "30" "9" "139391506" "139391506" "subst" "0.000185041" "02329" "NOTCH1_000016" "g.139391506C>T" "" "" "" "NOTCH1(NM_017617.5):c.6685G>A (p.V2229M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497054C>T" "" "likely benign" "" "0000537229" "0" "10" "9" "139391543" "139391543" "subst" "0.0119732" "02327" "NOTCH1_000017" "g.139391543C>T" "" "" "" "NOTCH1(NM_017617.5):c.6648G>A (p.P2216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497091C>T" "" "benign" "" "0000537230" "0" "30" "9" "139391623" "139391623" "subst" "1.22448E-5" "01943" "NOTCH1_000196" "g.139391623G>A" "" "" "" "NOTCH1(NM_017617.5):c.6568C>T (p.L2190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497171G>A" "" "likely benign" "" "0000537231" "0" "10" "9" "139391636" "139391636" "subst" "0.621211" "02330" "NOTCH1_000197" "g.139391636G>A" "" "" "" "NOTCH1(NM_017617.5):c.6555C>T (p.D2185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497184G>A" "" "benign" "" "0000537232" "0" "10" "9" "139391636" "139391636" "subst" "0.621211" "02327" "NOTCH1_000197" "g.139391636G>A" "" "" "" "NOTCH1(NM_017617.5):c.6555C>T (p.D2185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497184G>A" "" "benign" "" "0000537233" "0" "10" "9" "139391636" "139391636" "subst" "0.621211" "02325" "NOTCH1_000197" "g.139391636G>A" "" "" "" "NOTCH1(NM_017617.5):c.6555C>T (p.D2185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497184G>A" "" "benign" "" "0000537234" "0" "10" "9" "139391636" "139391636" "subst" "0.621211" "02329" "NOTCH1_000197" "g.139391636G>A" "" "" "" "NOTCH1(NM_017617.5):c.6555C>T (p.D2185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497184G>A" "" "benign" "" "0000537235" "0" "30" "9" "139391734" "139391734" "subst" "5.80306E-5" "02327" "NOTCH1_000198" "g.139391734C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497282C>T" "" "likely benign" "" "0000537236" "0" "10" "9" "139391737" "139391737" "subst" "0.0011043" "01943" "NOTCH1_000019" "g.139391737C>G" "" "" "" "NOTCH1(NM_017617.3):c.6454G>C (p.(Gly2152Arg)), NOTCH1(NM_017617.5):c.6454G>C (p.G2152R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497285C>G" "" "benign" "" "0000537237" "0" "30" "9" "139391737" "139391737" "subst" "4.98182E-5" "02326" "NOTCH1_000199" "g.139391737C>T" "" "" "" "NOTCH1(NM_017617.5):c.6454G>A (p.G2152S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497285C>T" "" "likely benign" "" "0000537238" "0" "30" "9" "139391738" "139391738" "subst" "7.4767E-5" "01943" "NOTCH1_000200" "g.139391738G>A" "" "" "" "NOTCH1(NM_017617.5):c.6453C>T (p.P2151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497286G>A" "" "likely benign" "" "0000537239" "0" "30" "9" "139391738" "139391738" "subst" "7.4767E-5" "02327" "NOTCH1_000200" "g.139391738G>A" "" "" "" "NOTCH1(NM_017617.5):c.6453C>T (p.P2151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497286G>A" "" "likely benign" "" "0000537240" "0" "50" "9" "139391769" "139391769" "subst" "1.68095E-5" "02327" "NOTCH1_000201" "g.139391769G>A" "" "" "" "NOTCH1(NM_017617.5):c.6422C>T (p.(Ser2141Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497317G>A" "" "VUS" "" "0000537242" "0" "30" "9" "139391795" "139391795" "subst" "0.000279339" "02327" "NOTCH1_000202" "g.139391795C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497343C>G" "" "likely benign" "" "0000537243" "0" "30" "9" "139391812" "139391812" "subst" "0" "01943" "NOTCH1_000203" "g.139391812C>T" "" "" "" "NOTCH1(NM_017617.5):c.6379G>A (p.A2127T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497360C>T" "" "likely benign" "" "0000537244" "0" "50" "9" "139391901" "139391901" "subst" "0" "02326" "NOTCH1_000204" "g.139391901G>A" "" "" "" "NOTCH1(NM_017617.5):c.6290C>T (p.P2097L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497449G>A" "" "VUS" "" "0000537245" "0" "30" "9" "139391906" "139391906" "subst" "4.15193E-6" "02329" "NOTCH1_000205" "g.139391906G>A" "" "" "" "NOTCH1(NM_017617.5):c.6285C>T (p.(Arg2095=), p.R2095=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497454G>A" "" "likely benign" "" "0000537246" "0" "30" "9" "139391963" "139391963" "subst" "0.000149805" "01943" "NOTCH1_000206" "g.139391963G>A" "" "" "" "NOTCH1(NM_017617.5):c.6228C>T (p.T2076=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497511G>A" "" "likely benign" "" "0000537247" "0" "30" "9" "139391969" "139391969" "subst" "3.75238E-5" "02327" "NOTCH1_000207" "g.139391969G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497517G>A" "" "likely benign" "" "0000537248" "0" "30" "9" "139392025" "139392025" "subst" "5.70664E-5" "02329" "NOTCH1_000208" "g.139392025C>T" "" "" "" "NOTCH1(NM_017617.5):c.6181-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497573C>T" "" "likely benign" "" "0000537249" "0" "30" "9" "139392027" "139392027" "subst" "0" "02327" "NOTCH1_000209" "g.139392027G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497575G>A" "" "likely benign" "" "0000537250" "0" "30" "9" "139393342" "139393342" "subst" "0.000146371" "01943" "NOTCH1_000210" "g.139393342C>T" "" "" "" "NOTCH1(NM_017617.5):c.6180+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136498890C>T" "" "likely benign" "" "0000537251" "0" "30" "9" "139393398" "139393398" "subst" "0" "01943" "NOTCH1_000211" "g.139393398C>G" "" "" "" "NOTCH1(NM_017617.5):c.6133G>C (p.V2045L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136498946C>G" "" "likely benign" "" "0000537252" "0" "50" "9" "139393401" "139393401" "subst" "6.49989E-5" "02327" "NOTCH1_000212" "g.139393401C>T" "" "" "" "NOTCH1(NM_017617.5):c.6130G>A (p.A2044T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136498949C>T" "" "VUS" "" "0000537253" "0" "50" "9" "139393401" "139393401" "subst" "6.49989E-5" "02329" "NOTCH1_000212" "g.139393401C>T" "" "" "" "NOTCH1(NM_017617.5):c.6130G>A (p.A2044T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136498949C>T" "" "VUS" "" "0000537254" "0" "30" "9" "139393452" "139393452" "subst" "4.47445E-5" "02329" "NOTCH1_000213" "g.139393452C>T" "" "" "" "NOTCH1(NM_017617.5):c.6083-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136499000C>T" "" "likely benign" "" "0000537255" "0" "30" "9" "139393453" "139393453" "subst" "6.10222E-5" "01943" "NOTCH1_000214" "g.139393453G>A" "" "" "" "NOTCH1(NM_017617.5):c.6083-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136499001G>A" "" "likely benign" "" "0000537256" "0" "30" "9" "139393610" "139393610" "subst" "0" "02327" "NOTCH1_000215" "g.139393610C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136499158C>T" "" "likely benign" "" "0000537258" "0" "50" "9" "139395095" "139395095" "subst" "0" "02327" "NOTCH1_000216" "g.139395095A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136500643A>G" "" "VUS" "" "0000537259" "0" "50" "9" "139395162" "139395162" "subst" "6.1823E-5" "02327" "NOTCH1_000217" "g.139395162G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136500710G>A" "" "VUS" "" "0000537260" "0" "30" "9" "139395220" "139395220" "subst" "5.46632E-5" "01943" "NOTCH1_000218" "g.139395220C>T" "" "" "" "NOTCH1(NM_017617.5):c.5718G>A (p.A1906=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136500768C>T" "" "likely benign" "" "0000537261" "0" "30" "9" "139395262" "139395262" "subst" "0.00011666" "02327" "NOTCH1_000219" "g.139395262C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136500810C>T" "" "likely benign" "" "0000537262" "0" "10" "9" "139395311" "139395311" "subst" "0.0664716" "02327" "NOTCH1_000033" "g.139395311G>A" "" "" "" "NOTCH1(NM_017617.5):c.5639-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136500859G>A" "" "benign" "" "0000537263" "0" "30" "9" "139396181" "139396181" "subst" "0.000197843" "02327" "NOTCH1_000034" "g.139396181T>C" "" "" "" "NOTCH1(NM_017617.5):c.5638+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136501729T>C" "" "likely benign" "" "0000537264" "0" "50" "9" "139396209" "139396209" "subst" "0" "02327" "NOTCH1_000220" "g.139396209G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136501757G>A" "" "VUS" "" "0000537265" "0" "50" "9" "139396233" "139396233" "subst" "4.09752E-6" "02326" "NOTCH1_000221" "g.139396233C>T" "" "" "" "NOTCH1(NM_017617.5):c.5605G>A (p.A1869T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136501781C>T" "" "VUS" "" "0000537266" "0" "30" "9" "139396338" "139396338" "subst" "0.000126676" "02326" "NOTCH1_000035" "g.139396338G>A" "" "" "" "NOTCH1(NM_017617.5):c.5500C>T (p.L1834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136501886G>A" "" "likely benign" "" "0000537267" "0" "30" "9" "139396376" "139396376" "subst" "1.22758E-5" "02327" "NOTCH1_000222" "g.139396376G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136501924G>A" "" "likely benign" "" "0000537268" "0" "30" "9" "139396504" "139396504" "subst" "5.69634E-5" "02326" "NOTCH1_000037" "g.139396504G>A" "" "" "" "NOTCH1(NM_017617.5):c.5421C>T (p.D1807=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136502052G>A" "" "likely benign" "" "0000537269" "0" "50" "9" "139396511" "139396511" "subst" "4.47584E-5" "02327" "NOTCH1_000223" "g.139396511A>G" "" "" "" "NOTCH1(NM_017617.5):c.5414T>C (p.(Leu1805Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136502059A>G" "" "VUS" "" "0000537270" "0" "30" "9" "139396522" "139396522" "subst" "0.000101766" "02329" "NOTCH1_000224" "g.139396522T>C" "" "" "" "NOTCH1(NM_017617.5):c.5403A>G (p.S1801=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136502070T>C" "" "likely benign" "" "0000537271" "0" "30" "9" "139396690" "139396690" "subst" "0.11074" "02327" "NOTCH1_000225" "g.139396690C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136502238C>T" "" "likely benign" "" "0000537273" "0" "10" "9" "139396882" "139396882" "subst" "0.000836306" "01943" "NOTCH1_000227" "g.139396882G>A" "" "" "" "NOTCH1(NM_017617.5):c.5226C>T (p.A1742=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136502430G>A" "" "benign" "" "0000537274" "0" "30" "9" "139396882" "139396882" "subst" "0.000836306" "02327" "NOTCH1_000227" "g.139396882G>A" "" "" "" "NOTCH1(NM_017617.5):c.5226C>T (p.A1742=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136502430G>A" "" "likely benign" "" "0000537275" "0" "30" "9" "139396919" "139396919" "subst" "0.000233453" "02327" "NOTCH1_000043" "g.139396919G>A" "" "" "" "NOTCH1(NM_017617.5):c.5189C>T (p.P1730L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136502467G>A" "" "likely benign" "" "0000537277" "0" "30" "9" "139397594" "139397594" "del" "0" "02327" "NOTCH1_000228" "g.139397594del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136503142del" "" "likely benign" "" "0000537278" "0" "30" "9" "139397677" "139397677" "subst" "0.00461796" "01943" "NOTCH1_000229" "g.139397677C>A" "" "" "" "NOTCH1(NM_017617.5):c.5124G>T (p.S1708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136503225C>A" "" "likely benign" "" "0000537279" "0" "30" "9" "139397677" "139397677" "subst" "0.00461796" "02327" "NOTCH1_000229" "g.139397677C>A" "" "" "" "NOTCH1(NM_017617.5):c.5124G>T (p.S1708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136503225C>A" "" "likely benign" "" "0000537280" "0" "10" "9" "139397677" "139397677" "subst" "0.00461796" "02329" "NOTCH1_000229" "g.139397677C>A" "" "" "" "NOTCH1(NM_017617.5):c.5124G>T (p.S1708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136503225C>A" "" "benign" "" "0000537281" "0" "10" "9" "139397707" "139397707" "subst" "0.448181" "02327" "NOTCH1_000048" "g.139397707G>A" "" "" "" "NOTCH1(NM_017617.5):c.5094C>T (p.D1698=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136503255G>A" "" "benign" "" "0000537282" "0" "70" "9" "139397774" "139397775" "del" "0" "02327" "NOTCH1_000230" "g.139397774_139397775del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136503322_136503323del" "" "likely pathogenic" "" "0000537283" "0" "70" "9" "139397784" "139397784" "subst" "0" "02327" "NOTCH1_000231" "g.139397784T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136503332T>C" "" "likely pathogenic" "" "0000537284" "0" "10" "9" "139397795" "139397795" "subst" "0.00149015" "02329" "NOTCH1_000232" "g.139397795T>C" "" "" "" "NOTCH1(NM_017617.5):c.5019-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136503343T>C" "" "benign" "" "0000537285" "0" "10" "9" "139399105" "139399105" "subst" "0.000684832" "02329" "NOTCH1_000233" "g.139399105G>A" "" "" "" "NOTCH1(NM_017617.5):c.5018+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136504653G>A" "" "benign" "" "0000537286" "0" "50" "9" "139399131" "139399131" "subst" "0" "02327" "NOTCH1_000234" "g.139399131A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136504679A>C" "" "VUS" "" "0000537287" "0" "10" "9" "139399132" "139399132" "subst" "0.0024396" "02329" "NOTCH1_000051" "g.139399132C>T" "" "" "" "NOTCH1(NM_017617.3):c.5011G>A (p.(Val1671Ile)), NOTCH1(NM_017617.5):c.5011G>A (p.V1671I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136504680C>T" "" "benign" "" "0000537288" "0" "50" "9" "139399147" "139399147" "subst" "0" "02326" "NOTCH1_000235" "g.139399147G>C" "" "" "" "NOTCH1(NM_017617.5):c.4996C>G (p.L1666V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136504695G>C" "" "VUS" "" "0000537290" "0" "30" "9" "139399213" "139399213" "subst" "0.000311734" "02327" "NOTCH1_000053" "g.139399213G>A" "" "" "" "NOTCH1(NM_017617.5):c.4930C>T (p.L1644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136504761G>A" "" "likely benign" "" "0000537291" "0" "30" "9" "139399213" "139399213" "subst" "0.000311734" "02329" "NOTCH1_000053" "g.139399213G>A" "" "" "" "NOTCH1(NM_017617.5):c.4930C>T (p.L1644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136504761G>A" "" "likely benign" "" "0000537292" "0" "10" "9" "139399226" "139399226" "subst" "0.000506873" "02327" "NOTCH1_000236" "g.139399226G>A" "" "" "" "NOTCH1(NM_017617.5):c.4917C>T (p.A1639=, p.(Ala1639Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136504774G>A" "" "benign" "" "0000537293" "0" "30" "9" "139399226" "139399226" "subst" "0.000506873" "02329" "NOTCH1_000236" "g.139399226G>A" "" "" "" "NOTCH1(NM_017617.5):c.4917C>T (p.A1639=, p.(Ala1639Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136504774G>A" "" "likely benign" "" "0000537294" "0" "30" "9" "139399256" "139399256" "subst" "0.00166822" "02327" "NOTCH1_000054" "g.139399256G>A" "" "" "" "NOTCH1(NM_017617.5):c.4887C>T (p.H1629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136504804G>A" "" "likely benign" "" "0000537295" "0" "70" "9" "139399261" "139399261" "subst" "0" "02327" "NOTCH1_000237" "g.139399261T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136504809T>A" "" "likely pathogenic" "" "0000537296" "0" "30" "9" "139399320" "139399320" "subst" "0.0106969" "02330" "NOTCH1_000238" "g.139399320C>T" "" "" "" "NOTCH1(NM_017617.5):c.4823G>A (p.R1608H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136504868C>T" "" "likely benign" "" "0000537297" "0" "30" "9" "139399397" "139399397" "subst" "1.5196E-5" "02326" "NOTCH1_000239" "g.139399397C>T" "" "" "" "NOTCH1(NM_017617.5):c.4746G>A (p.P1582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136504945C>T" "" "likely benign" "" "0000537298" "0" "30" "9" "139399430" "139399430" "subst" "3.0135E-5" "02326" "NOTCH1_000240" "g.139399430G>A" "" "" "" "NOTCH1(NM_017617.5):c.4713C>T (p.A1571=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136504978G>A" "" "likely benign" "" "0000537299" "0" "50" "9" "139399434" "139399434" "subst" "0" "02327" "NOTCH1_000241" "g.139399434G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136504982G>C" "" "VUS" "" "0000537300" "0" "50" "9" "139399447" "139399447" "subst" "0" "02325" "NOTCH1_000242" "g.139399447G>A" "" "" "" "NOTCH1(NM_017617.5):c.4696C>T (p.P1566S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136504995G>A" "" "VUS" "" "0000537301" "0" "50" "9" "139399507" "139399507" "subst" "0" "01943" "NOTCH1_000243" "g.139399507C>T" "" "" "" "NOTCH1(NM_017617.5):c.4636G>A (p.D1546N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505055C>T" "" "VUS" "" "0000537302" "0" "30" "9" "139399508" "139399508" "subst" "5.87544E-5" "02327" "NOTCH1_000244" "g.139399508G>A" "" "" "" "NOTCH1(NM_017617.5):c.4635C>T (p.C1545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505056G>A" "" "likely benign" "" "0000537303" "0" "30" "9" "139399526" "139399526" "subst" "0" "02329" "NOTCH1_000245" "g.139399526G>A" "" "" "" "NOTCH1(NM_017617.5):c.4617C>T (p.H1539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505074G>A" "" "likely benign" "" "0000537304" "0" "30" "9" "139399752" "139399752" "subst" "0.000153875" "01943" "NOTCH1_000246" "g.139399752G>A" "" "" "" "NOTCH1(NM_017617.5):c.4586+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505300G>A" "" "likely benign" "" "0000537305" "0" "30" "9" "139399752" "139399752" "subst" "0.000153875" "02329" "NOTCH1_000246" "g.139399752G>A" "" "" "" "NOTCH1(NM_017617.5):c.4586+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505300G>A" "" "likely benign" "" "0000537306" "0" "70" "9" "139399799" "139399799" "subst" "0" "02327" "NOTCH1_000247" "g.139399799C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505347C>G" "" "likely pathogenic" "" "0000537307" "0" "30" "9" "139399812" "139399812" "subst" "0.001538" "02327" "NOTCH1_000058" "g.139399812G>A" "" "" "" "NOTCH1(NM_017617.5):c.4536C>T (p.A1512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505360G>A" "" "likely benign" "" "0000537308" "0" "30" "9" "139399905" "139399905" "subst" "0" "02327" "NOTCH1_000248" "g.139399905G>A" "" "" "" "NOTCH1(NM_017617.5):c.4443C>T (p.L1481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505453G>A" "" "likely benign" "" "0000537309" "0" "50" "9" "139400020" "139400020" "subst" "5.00739E-5" "02327" "NOTCH1_000249" "g.139400020G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505568G>A" "" "VUS" "" "0000537310" "0" "30" "9" "139400085" "139400085" "subst" "1.23176E-5" "02329" "NOTCH1_000250" "g.139400085G>A" "" "" "" "NOTCH1(NM_017617.5):c.4263C>T (p.N1421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505633G>A" "" "likely benign" "" "0000537311" "0" "30" "9" "139400110" "139400110" "subst" "6.17091E-5" "01943" "NOTCH1_000251" "g.139400110C>T" "" "" "" "NOTCH1(NM_017617.5):c.4238G>A (p.R1413H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505658C>T" "" "likely benign" "" "0000537312" "0" "30" "9" "139400124" "139400124" "subst" "0" "02327" "NOTCH1_000252" "g.139400124C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505672C>T" "" "likely benign" "" "0000537313" "0" "50" "9" "139400165" "139400165" "subst" "1.71237E-5" "02329" "NOTCH1_000253" "g.139400165T>C" "" "" "" "NOTCH1(NM_017617.5):c.4183A>G (p.N1395D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505713T>C" "" "VUS" "" "0000537314" "0" "10" "9" "139400180" "139400180" "subst" "0.000602641" "02329" "NOTCH1_000067" "g.139400180G>T" "" "" "" "NOTCH1(NM_017617.3):c.4168C>A (p.(Pro1390Thr)), NOTCH1(NM_017617.5):c.4168C>A (p.P1390T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505728G>T" "" "benign" "" "0000537315" "0" "10" "9" "139400219" "139400219" "subst" "0.0168987" "01804" "NOTCH1_000069" "g.139400219G>A" "" "" "" "NOTCH1(NM_017617.3):c.4129C>T (p.(Pro1377Ser)), NOTCH1(NM_017617.5):c.4129C>T (p.P1377S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505767G>A" "" "benign" "" "0000537316" "0" "10" "9" "139400219" "139400219" "subst" "0.0168987" "02327" "NOTCH1_000069" "g.139400219G>A" "" "" "" "NOTCH1(NM_017617.3):c.4129C>T (p.(Pro1377Ser)), NOTCH1(NM_017617.5):c.4129C>T (p.P1377S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505767G>A" "" "benign" "" "0000537317" "0" "30" "9" "139400253" "139400253" "subst" "0.000260083" "01943" "NOTCH1_000254" "g.139400253G>A" "" "" "" "NOTCH1(NM_017617.5):c.4095C>T (p.S1365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505801G>A" "" "likely benign" "" "0000537318" "0" "50" "9" "139400270" "139400270" "subst" "0" "02327" "NOTCH1_000255" "g.139400270C>T" "" "" "" "NOTCH1(NM_017617.5):c.4078G>A (p.G1360S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505818C>T" "" "VUS" "" "0000537319" "0" "30" "9" "139400271" "139400271" "subst" "6.87203E-5" "01943" "NOTCH1_000256" "g.139400271G>A" "" "" "" "NOTCH1(NM_017617.5):c.4077C>T (p.N1359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505819G>A" "" "likely benign" "" "0000537321" "0" "30" "9" "139400299" "139400299" "subst" "0.000609359" "02329" "NOTCH1_000071" "g.139400299C>A" "" "" "" "NOTCH1(NM_017617.3):c.4049G>T (p.(Arg1350Leu)), NOTCH1(NM_017617.5):c.4049G>T (p.R1350L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505847C>A" "" "likely benign" "" "0000537322" "0" "50" "9" "139400317" "139400317" "subst" "0.000449918" "01943" "NOTCH1_000257" "g.139400317G>A" "" "" "" "NOTCH1(NM_017617.3):c.4031C>T (p.(Thr1344Met)), NOTCH1(NM_017617.5):c.4031C>T (p.T1344M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505865G>A" "" "VUS" "" "0000537323" "0" "30" "9" "139400320" "139400320" "subst" "0.00168771" "01943" "NOTCH1_000072" "g.139400320G>A" "" "" "" "NOTCH1(NM_017617.3):c.4028C>T (p.(Ala1343Val)), NOTCH1(NM_017617.5):c.4028C>T (p.A1343V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505868G>A" "" "likely benign" "" "0000537324" "0" "30" "9" "139400320" "139400320" "subst" "0.00168771" "02327" "NOTCH1_000072" "g.139400320G>A" "" "" "" "NOTCH1(NM_017617.3):c.4028C>T (p.(Ala1343Val)), NOTCH1(NM_017617.5):c.4028C>T (p.A1343V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505868G>A" "" "likely benign" "" "0000537325" "0" "30" "9" "139400327" "139400327" "subst" "2.46126E-5" "02327" "NOTCH1_000258" "g.139400327C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505875C>T" "" "likely benign" "" "0000537326" "0" "30" "9" "139400349" "139400349" "subst" "0" "02327" "NOTCH1_000259" "g.139400349G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505897G>A" "" "likely benign" "" "0000537327" "0" "30" "9" "139400357" "139400357" "subst" "0.00135039" "02327" "NOTCH1_000260" "g.139400357G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505905G>A" "" "likely benign" "" "0000537328" "0" "30" "9" "139400946" "139400946" "subst" "0.00243424" "02327" "NOTCH1_000261" "g.139400946C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506494C>T" "" "likely benign" "" "0000537329" "0" "50" "9" "139401008" "139401008" "subst" "0" "01943" "NOTCH1_000262" "g.139401008C>T" "" "" "" "NOTCH1(NM_017617.5):c.3985G>A (p.A1329T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506556C>T" "" "VUS" "" "0000537331" "0" "50" "9" "139401216" "139401216" "subst" "5.56283E-5" "02327" "NOTCH1_000264" "g.139401216C>T" "" "" "" "NOTCH1(NM_017617.5):c.3853G>A (p.(Val1285Met), p.V1285M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506764C>T" "" "VUS" "" "0000537332" "0" "10" "9" "139401233" "139401233" "subst" "0.0153129" "01943" "NOTCH1_000077" "g.139401233C>T" "" "" "" "NOTCH1(NM_017617.3):c.3836G>A (p.(Arg1279His)), NOTCH1(NM_017617.5):c.3836G>A (p.R1279H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506781C>T" "" "benign" "" "0000537333" "0" "10" "9" "139401233" "139401233" "subst" "0.0153129" "01804" "NOTCH1_000077" "g.139401233C>T" "" "" "" "NOTCH1(NM_017617.3):c.3836G>A (p.(Arg1279His)), NOTCH1(NM_017617.5):c.3836G>A (p.R1279H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506781C>T" "" "benign" "" "0000537334" "0" "30" "9" "139401233" "139401233" "subst" "0.0153129" "02327" "NOTCH1_000077" "g.139401233C>T" "" "" "" "NOTCH1(NM_017617.3):c.3836G>A (p.(Arg1279His)), NOTCH1(NM_017617.5):c.3836G>A (p.R1279H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506781C>T" "" "likely benign" "" "0000537335" "0" "50" "9" "139401234" "139401234" "subst" "0.000352627" "01943" "NOTCH1_000265" "g.139401234G>A" "" "" "" "NOTCH1(NM_017617.3):c.3835C>T (p.(Arg1279Cys)), NOTCH1(NM_017617.5):c.3835C>T (p.R1279C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506782G>A" "" "VUS" "" "0000537336" "0" "50" "9" "139401234" "139401234" "subst" "0.000352627" "01804" "NOTCH1_000265" "g.139401234G>A" "" "" "" "NOTCH1(NM_017617.3):c.3835C>T (p.(Arg1279Cys)), NOTCH1(NM_017617.5):c.3835C>T (p.R1279C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506782G>A" "" "VUS" "" "0000537337" "0" "30" "9" "139401234" "139401234" "subst" "0.000352627" "02327" "NOTCH1_000265" "g.139401234G>A" "" "" "" "NOTCH1(NM_017617.3):c.3835C>T (p.(Arg1279Cys)), NOTCH1(NM_017617.5):c.3835C>T (p.R1279C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506782G>A" "" "likely benign" "" "0000537338" "0" "30" "9" "139401289" "139401289" "subst" "0.00175239" "02327" "NOTCH1_000079" "g.139401289C>G" "" "" "" "NOTCH1(NM_017617.3):c.3780G>C (p.(Val1260=)), NOTCH1(NM_017617.5):c.3780G>C (p.V1260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506837C>G" "" "likely benign" "" "0000537339" "0" "50" "9" "139401369" "139401369" "subst" "4.16188E-5" "01804" "NOTCH1_000266" "g.139401369G>A" "" "" "" "NOTCH1(NM_017617.3):c.3700C>T (p.(Arg1234Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506917G>A" "" "VUS" "" "0000537340" "0" "30" "9" "139401375" "139401375" "subst" "4.17014E-5" "02329" "NOTCH1_000267" "g.139401375C>T" "" "" "" "NOTCH1(NM_017617.5):c.3694G>A (p.V1232M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506923C>T" "" "likely benign" "" "0000537341" "0" "30" "9" "139401429" "139401429" "subst" "0.000243418" "02327" "NOTCH1_000082" "g.139401429C>T" "" "" "" "NOTCH1(NM_017617.5):c.3644-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506977C>T" "" "likely benign" "" "0000537342" "0" "30" "9" "139401430" "139401430" "subst" "0" "02327" "NOTCH1_000268" "g.139401430G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506978G>C" "" "likely benign" "" "0000537343" "0" "50" "9" "139401765" "139401765" "subst" "0" "02327" "NOTCH1_000269" "g.139401765C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136507313C>T" "" "VUS" "" "0000537344" "0" "50" "9" "139401769" "139401769" "subst" "2.45104E-5" "02329" "NOTCH1_000270" "g.139401769G>A" "" "" "" "NOTCH1(NM_017617.5):c.3631C>T (p.R1211W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136507317G>A" "" "VUS" "" "0000537345" "0" "50" "9" "139401876" "139401876" "subst" "0" "02329" "NOTCH1_000271" "g.139401876T>C" "" "" "" "NOTCH1(NM_017617.5):c.3524A>G (p.Y1175C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136507424T>C" "" "VUS" "" "0000537346" "0" "10" "9" "139401899" "139401899" "subst" "0.00339779" "02327" "NOTCH1_000084" "g.139401899C>T" "" "" "" "NOTCH1(NM_017617.5):c.3511-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136507447C>T" "" "benign" "" "0000537347" "0" "30" "9" "139401900" "139401900" "subst" "0.000403334" "02327" "NOTCH1_000272" "g.139401900G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136507448G>A" "" "likely benign" "" "0000537348" "0" "10" "9" "139402663" "139402663" "subst" "0.632354" "02327" "NOTCH1_000089" "g.139402663T>C" "" "" "" "NOTCH1(NM_017617.5):c.3325+21A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136508211T>C" "" "benign" "" "0000537349" "0" "30" "9" "139402694" "139402694" "subst" "0.00255583" "02327" "NOTCH1_000090" "g.139402694C>A" "" "" "" "NOTCH1(NM_017617.5):c.3315G>T (p.A1105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136508242C>A" "" "likely benign" "" "0000537350" "0" "30" "9" "139402715" "139402715" "subst" "0.00287957" "02327" "NOTCH1_000091" "g.139402715G>A" "" "" "" "NOTCH1(NM_017617.5):c.3294C>T (p.S1098=, p.(Ser1098=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136508263G>A" "" "likely benign" "" "0000537352" "0" "30" "9" "139402721" "139402721" "subst" "8.97989E-5" "02327" "NOTCH1_000092" "g.139402721C>G" "" "" "" "NOTCH1(NM_017617.5):c.3288G>C (p.V1096=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136508269C>G" "" "likely benign" "" "0000537353" "0" "50" "9" "139402738" "139402738" "subst" "5.7093E-5" "02327" "NOTCH1_000273" "g.139402738C>T" "" "" "" "NOTCH1(NM_017617.5):c.3271G>A (p.(Gly1091Ser), p.G1091S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136508286C>T" "" "VUS" "" "0000537354" "0" "30" "9" "139402764" "139402764" "subst" "5.29605E-5" "02327" "NOTCH1_000274" "g.139402764C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136508312C>T" "" "likely benign" "" "0000537355" "0" "50" "9" "139402795" "139402795" "subst" "1.6273E-5" "01943" "NOTCH1_000275" "g.139402795C>T" "" "" "" "NOTCH1(NM_017617.5):c.3214G>A (p.G1072S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136508343C>T" "" "VUS" "" "0000537356" "0" "30" "9" "139402796" "139402796" "subst" "4.47533E-5" "02327" "NOTCH1_000276" "g.139402796G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136508344G>A" "" "likely benign" "" "0000537357" "0" "10" "9" "139403244" "139403244" "dup" "0" "02327" "NOTCH1_000277" "g.139403244dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136508792dup" "" "benign" "" "0000537358" "0" "30" "9" "139403295" "139403295" "subst" "0.000281698" "02327" "NOTCH1_000278" "g.139403295G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136508843G>A" "" "likely benign" "" "0000537359" "0" "50" "9" "139403372" "139403372" "subst" "2.69814E-5" "02327" "NOTCH1_000279" "g.139403372C>T" "" "" "" "NOTCH1(NM_017617.5):c.3121G>A (p.G1041S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136508920C>T" "" "VUS" "" "0000537360" "0" "30" "9" "139403379" "139403379" "subst" "0.000107325" "02329" "NOTCH1_000280" "g.139403379G>A" "" "" "" "NOTCH1(NM_017617.5):c.3114C>T (p.D1038=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136508927G>A" "" "likely benign" "" "0000537361" "0" "50" "9" "139403416" "139403416" "subst" "0" "02326" "NOTCH1_000281" "g.139403416T>C" "" "" "" "NOTCH1(NM_017617.5):c.3077A>G (p.D1026G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136508964T>C" "" "VUS" "" "0000537363" "0" "50" "9" "139403482" "139403482" "subst" "0.000178249" "01943" "NOTCH1_000283" "g.139403482G>A" "" "" "" "NOTCH1(NM_017617.3):c.3011C>T (p.(Ser1004Leu)), NOTCH1(NM_017617.5):c.3011C>T (p.S1004L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136509030G>A" "" "VUS" "" "0000537364" "0" "30" "9" "139403482" "139403482" "subst" "0.000178249" "02326" "NOTCH1_000283" "g.139403482G>A" "" "" "" "NOTCH1(NM_017617.3):c.3011C>T (p.(Ser1004Leu)), NOTCH1(NM_017617.5):c.3011C>T (p.S1004L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136509030G>A" "" "likely benign" "" "0000537365" "0" "50" "9" "139403492" "139403492" "subst" "0" "02329" "NOTCH1_000284" "g.139403492C>T" "" "" "" "NOTCH1(NM_017617.3):c.3001G>A (p.(Gly1001Ser)), NOTCH1(NM_017617.5):c.3001G>A (p.G1001S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136509040C>T" "" "VUS" "" "0000537366" "0" "30" "9" "139403543" "139403543" "subst" "0.000756213" "02327" "NOTCH1_000098" "g.139403543C>T" "" "" "" "NOTCH1(NM_017617.5):c.2970-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136509091C>T" "" "likely benign" "" "0000537367" "0" "10" "9" "139403554" "139403554" "subst" "0.639076" "02327" "NOTCH1_000285" "g.139403554T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136509102T>C" "" "benign" "" "0000537368" "0" "50" "9" "139404246" "139404246" "subst" "5.28984E-5" "01943" "NOTCH1_000286" "g.139404246T>C" "" "" "" "NOTCH1(NM_017617.3):c.2908A>G (p.(Thr970Ala)), NOTCH1(NM_017617.5):c.2908A>G (p.T970A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136509794T>C" "" "VUS" "" "0000537369" "0" "50" "9" "139404246" "139404246" "subst" "5.28984E-5" "01804" "NOTCH1_000286" "g.139404246T>C" "" "" "" "NOTCH1(NM_017617.3):c.2908A>G (p.(Thr970Ala)), NOTCH1(NM_017617.5):c.2908A>G (p.T970A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136509794T>C" "" "VUS" "" "0000537370" "0" "50" "9" "139404246" "139404246" "subst" "5.28984E-5" "02326" "NOTCH1_000286" "g.139404246T>C" "" "" "" "NOTCH1(NM_017617.3):c.2908A>G (p.(Thr970Ala)), NOTCH1(NM_017617.5):c.2908A>G (p.T970A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136509794T>C" "" "VUS" "" "0000537371" "0" "30" "9" "139404286" "139404286" "subst" "3.25383E-5" "02327" "NOTCH1_000287" "g.139404286G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136509834G>A" "" "likely benign" "" "0000537372" "0" "50" "9" "139404290" "139404290" "subst" "0.000146453" "01943" "NOTCH1_000288" "g.139404290C>T" "" "" "" "NOTCH1(NM_017617.5):c.2864G>A (p.R955H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136509838C>T" "" "VUS" "" "0000537373" "0" "30" "9" "139404290" "139404290" "subst" "0.000146453" "02327" "NOTCH1_000288" "g.139404290C>T" "" "" "" "NOTCH1(NM_017617.5):c.2864G>A (p.R955H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136509838C>T" "" "likely benign" "" "0000537374" "0" "30" "9" "139404349" "139404349" "subst" "0.000142361" "02327" "NOTCH1_000101" "g.139404349G>A" "" "" "" "NOTCH1(NM_017617.5):c.2805C>T (p.P935=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136509897G>A" "" "likely benign" "" "0000537375" "0" "30" "9" "139404382" "139404382" "subst" "6.9176E-5" "02326" "NOTCH1_000289" "g.139404382G>A" "" "" "" "NOTCH1(NM_017617.5):c.2772C>T (p.D924=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136509930G>A" "" "likely benign" "" "0000537376" "0" "10" "9" "139404385" "139404385" "subst" "0.000736587" "01943" "NOTCH1_000102" "g.139404385T>C" "" "" "" "NOTCH1(NM_017617.5):c.2769A>G (p.T923=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136509933T>C" "" "benign" "" "0000537377" "0" "30" "9" "139405091" "139405091" "subst" "7.64313E-5" "02326" "NOTCH1_000103" "g.139405091G>A" "" "" "" "NOTCH1(NM_017617.5):c.2740+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136510639G>A" "" "likely benign" "" "0000537378" "0" "10" "9" "139405093" "139405093" "subst" "0.110242" "02327" "NOTCH1_000104" "g.139405093G>A" "" "" "" "NOTCH1(NM_017617.5):c.2740+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136510641G>A" "" "benign" "" "0000537380" "0" "30" "9" "139405154" "139405154" "subst" "0.0121155" "02327" "NOTCH1_000108" "g.139405154G>A" "" "" "" "NOTCH1(NM_017617.5):c.2691C>T (p.A897=, p.(Ala897=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136510702G>A" "" "likely benign" "" "0000537381" "0" "50" "9" "139405180" "139405180" "subst" "2.51017E-5" "01943" "NOTCH1_000290" "g.139405180C>T" "" "" "" "NOTCH1(NM_017617.5):c.2665G>A (p.G889S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136510728C>T" "" "VUS" "" "0000537382" "0" "10" "9" "139405181" "139405181" "subst" "0.0124042" "01943" "NOTCH1_000109" "g.139405181G>A" "" "" "" "NOTCH1(NM_017617.5):c.2664C>T (p.H888=, p.(His888=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136510729G>A" "" "benign" "" "0000537383" "0" "10" "9" "139405181" "139405181" "subst" "0.0124042" "02327" "NOTCH1_000109" "g.139405181G>A" "" "" "" "NOTCH1(NM_017617.5):c.2664C>T (p.H888=, p.(His888=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136510729G>A" "" "benign" "" "0000537384" "0" "50" "9" "139405202" "139405202" "subst" "0" "01943" "NOTCH1_000291" "g.139405202G>A" "" "" "" "NOTCH1(NM_017617.5):c.2643C>T (p.G881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136510750G>A" "" "VUS" "" "0000537385" "0" "50" "9" "139405228" "139405228" "subst" "4.16053E-6" "01943" "NOTCH1_000292" "g.139405228A>G" "" "" "" "NOTCH1(NM_017617.5):c.2617T>C (p.C873R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136510776A>G" "" "VUS" "" "0000537386" "0" "50" "9" "139405231" "139405231" "subst" "0" "02325" "NOTCH1_000293" "g.139405231C>T" "" "" "" "NOTCH1(NM_017617.5):c.2614G>A (p.E872K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136510779C>T" "" "VUS" "" "0000537388" "0" "10" "9" "139405261" "139405261" "subst" "0.47437" "02327" "NOTCH1_000111" "g.139405261C>T" "" "" "" "NOTCH1(NM_017617.5):c.2588-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136510809C>T" "" "benign" "" "0000537389" "0" "10" "9" "139405584" "139405584" "subst" "0.016773" "02327" "NOTCH1_000113" "g.139405584C>T" "" "" "" "NOTCH1(NM_017617.5):c.2587+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136511132C>T" "" "benign" "" "0000537390" "0" "30" "9" "139405649" "139405649" "subst" "0.00277807" "01804" "NOTCH1_000295" "g.139405649C>T" "" "" "" "NOTCH1(NM_017617.3):c.2542G>A (p.(Glu848Lys)), NOTCH1(NM_017617.5):c.2542G>A (p.E848K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136511197C>T" "" "likely benign" "" "0000537391" "0" "10" "9" "139405649" "139405649" "subst" "0.00277807" "02327" "NOTCH1_000295" "g.139405649C>T" "" "" "" "NOTCH1(NM_017617.3):c.2542G>A (p.(Glu848Lys)), NOTCH1(NM_017617.5):c.2542G>A (p.E848K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136511197C>T" "" "benign" "" "0000537392" "0" "30" "9" "139405649" "139405649" "subst" "0.00277807" "02326" "NOTCH1_000295" "g.139405649C>T" "" "" "" "NOTCH1(NM_017617.3):c.2542G>A (p.(Glu848Lys)), NOTCH1(NM_017617.5):c.2542G>A (p.E848K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136511197C>T" "" "likely benign" "" "0000537393" "0" "30" "9" "139405649" "139405649" "subst" "0.00277807" "02329" "NOTCH1_000295" "g.139405649C>T" "" "" "" "NOTCH1(NM_017617.3):c.2542G>A (p.(Glu848Lys)), NOTCH1(NM_017617.5):c.2542G>A (p.E848K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136511197C>T" "" "likely benign" "" "0000537394" "0" "10" "9" "139407452" "139407452" "subst" "0.576999" "02327" "NOTCH1_000296" "g.139407452C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136513000C>T" "" "benign" "" "0000537395" "0" "50" "9" "139407476" "139407476" "subst" "1.23564E-5" "01943" "NOTCH1_000297" "g.139407476T>C" "" "" "" "NOTCH1(NM_017617.5):c.2464A>G (p.T822A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136513024T>C" "" "VUS" "" "0000537396" "0" "50" "9" "139407553" "139407553" "subst" "2.03494E-5" "02327" "NOTCH1_000298" "g.139407553G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136513101G>A" "" "VUS" "" "0000537397" "0" "30" "9" "139407590" "139407590" "subst" "0" "02327" "NOTCH1_000299" "g.139407590G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136513138G>A" "" "likely benign" "" "0000537398" "0" "30" "9" "139407830" "139407830" "subst" "0.000232647" "02329" "NOTCH1_000300" "g.139407830C>T" "" "" "" "NOTCH1(NM_017617.5):c.2353+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136513378C>T" "" "likely benign" "" "0000537399" "0" "30" "9" "139407872" "139407872" "subst" "0.000481519" "02327" "NOTCH1_000118" "g.139407872G>A" "" "" "" "NOTCH1(NM_017617.5):c.2325C>T (p.Y775=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136513420G>A" "" "likely benign" "" "0000537401" "0" "10" "9" "139407932" "139407932" "subst" "0.400074" "02327" "NOTCH1_000119" "g.139407932A>G" "" "" "" "NOTCH1(NM_017617.5):c.2265T>C (p.N755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136513480A>G" "" "benign" "" "0000537402" "0" "30" "9" "139408947" "139408947" "subst" "0.000148922" "02327" "NOTCH1_000302" "g.139408947G>A" "" "" "" "NOTCH1(NM_017617.5):c.2207+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136514495G>A" "" "likely benign" "" "0000537403" "0" "30" "9" "139408947" "139408947" "subst" "0.000148922" "02329" "NOTCH1_000302" "g.139408947G>A" "" "" "" "NOTCH1(NM_017617.5):c.2207+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136514495G>A" "" "likely benign" "" "0000537406" "0" "30" "9" "139409089" "139409089" "subst" "0.000631735" "02329" "NOTCH1_000126" "g.139409089C>T" "" "" "" "NOTCH1(NM_017617.5):c.2080G>A (p.E694K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136514637C>T" "" "likely benign" "" "0000537407" "0" "30" "9" "139409120" "139409120" "subst" "0.000990393" "02329" "NOTCH1_000127" "g.139409120C>T" "" "" "" "NOTCH1(NM_017617.5):c.2049G>A (p.A683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136514668C>T" "" "likely benign" "" "0000537408" "0" "50" "9" "139409125" "139409125" "subst" "0" "02327" "NOTCH1_000303" "g.139409125A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136514673A>G" "" "VUS" "" "0000537409" "0" "30" "9" "139409726" "139409726" "subst" "0.000147203" "02326" "NOTCH1_000128" "g.139409726G>A" "" "" "" "NOTCH1(NM_017617.5):c.2014+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515274G>A" "" "likely benign" "" "0000537410" "0" "50" "9" "139409753" "139409753" "subst" "4.07511E-5" "02325" "NOTCH1_000304" "g.139409753G>A" "" "" "" "NOTCH1(NM_017617.5):c.2003C>T (p.(Pro668Leu), p.P668L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515301G>A" "" "VUS" "" "0000537411" "0" "50" "9" "139409775" "139409775" "subst" "0.000394913" "01943" "NOTCH1_000305" "g.139409775C>T" "" "" "" "NOTCH1(NM_017617.5):c.1981G>A (p.G661S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515323C>T" "" "VUS" "" "0000537412" "0" "50" "9" "139409775" "139409775" "subst" "0.000394913" "02327" "NOTCH1_000305" "g.139409775C>T" "" "" "" "NOTCH1(NM_017617.5):c.1981G>A (p.G661S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515323C>T" "" "VUS" "" "0000537413" "0" "50" "9" "139409784" "139409784" "subst" "2.44226E-5" "01943" "NOTCH1_000306" "g.139409784T>C" "" "" "" "NOTCH1(NM_017617.5):c.1972A>G (p.K658E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515332T>C" "" "VUS" "" "0000537414" "0" "30" "9" "139409969" "139409969" "subst" "0.000139987" "02327" "NOTCH1_000131" "g.139409969G>A" "" "" "" "NOTCH1(NM_017617.5):c.1869C>T (p.N623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515517G>A" "" "likely benign" "" "0000537415" "0" "50" "9" "139409976" "139409976" "subst" "0.00102534" "01943" "NOTCH1_000133" "g.139409976C>T" "" "" "" "NOTCH1(NM_017617.3):c.1862G>A (p.(Arg621His)), NOTCH1(NM_017617.5):c.1862G>A (p.R621H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515524C>T" "" "VUS" "" "0000537416" "0" "30" "9" "139409976" "139409976" "subst" "0.00102534" "02326" "NOTCH1_000133" "g.139409976C>T" "" "" "" "NOTCH1(NM_017617.3):c.1862G>A (p.(Arg621His)), NOTCH1(NM_017617.5):c.1862G>A (p.R621H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515524C>T" "" "likely benign" "" "0000537417" "0" "30" "9" "139409976" "139409976" "subst" "0.00102534" "02329" "NOTCH1_000133" "g.139409976C>T" "" "" "" "NOTCH1(NM_017617.3):c.1862G>A (p.(Arg621His)), NOTCH1(NM_017617.5):c.1862G>A (p.R621H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515524C>T" "" "likely benign" "" "0000537418" "0" "30" "9" "139409996" "139409996" "subst" "4.13479E-5" "02326" "NOTCH1_000307" "g.139409996G>A" "" "" "" "NOTCH1(NM_017617.5):c.1842C>T (p.H614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515544G>A" "" "likely benign" "" "0000537419" "0" "50" "9" "139410000" "139410000" "subst" "1.24236E-5" "02329" "NOTCH1_000308" "g.139410000C>T" "" "" "" "NOTCH1(NM_017617.5):c.1838G>A (p.R613H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515548C>T" "" "VUS" "" "0000537420" "0" "50" "9" "139410037" "139410037" "subst" "5.41635E-5" "02327" "NOTCH1_000309" "g.139410037C>T" "" "" "" "NOTCH1(NM_017617.5):c.1801G>A (p.(Glu601Lys), p.E601K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515585C>T" "" "VUS" "" "0000537421" "0" "30" "9" "139410050" "139410050" "subst" "1.67524E-5" "02329" "NOTCH1_000310" "g.139410050C>T" "" "" "" "NOTCH1(NM_017617.5):c.1788G>A (p.T596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515598C>T" "" "likely benign" "" "0000537422" "0" "50" "9" "139410064" "139410064" "subst" "1.27466E-5" "02326" "NOTCH1_000135" "g.139410064G>A" "" "" "" "NOTCH1(NM_017617.5):c.1774C>T (p.R592C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515612G>A" "" "VUS" "" "0000537423" "0" "50" "9" "139410085" "139410085" "subst" "3.16946E-5" "02327" "NOTCH1_000311" "g.139410085C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515633C>T" "" "VUS" "" "0000537424" "0" "30" "9" "139410092" "139410092" "subst" "0" "02327" "NOTCH1_000312" "g.139410092G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515640G>A" "" "likely benign" "" "0000537425" "0" "30" "9" "139410126" "139410126" "subst" "0" "02327" "NOTCH1_000313" "g.139410126T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515674T>G" "" "likely benign" "" "0000537426" "0" "10" "9" "139410177" "139410177" "subst" "0.462685" "02327" "NOTCH1_000139" "g.139410177T>C" "" "" "" "NOTCH1(NM_017617.5):c.1670-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515725T>C" "" "benign" "" "0000537427" "0" "30" "9" "139410178" "139410178" "subst" "6.76926E-5" "01943" "NOTCH1_000314" "g.139410178G>A" "" "" "" "NOTCH1(NM_017617.5):c.1670-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515726G>A" "" "likely benign" "" "0000537428" "0" "30" "9" "139410187" "139410187" "subst" "0.000167163" "02329" "NOTCH1_000315" "g.139410187G>A" "" "" "" "NOTCH1(NM_017617.5):c.1670-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515735G>A" "" "likely benign" "" "0000537429" "0" "30" "9" "139410189" "139410189" "subst" "0.000997047" "02327" "NOTCH1_000316" "g.139410189G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515737G>C" "" "likely benign" "" "0000537430" "0" "10" "9" "139410424" "139410424" "subst" "0.871628" "02327" "NOTCH1_000141" "g.139410424A>G" "" "" "" "NOTCH1(NM_017617.5):c.1669+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515972A>G" "" "benign" "" "0000537431" "0" "10" "9" "139410424" "139410424" "subst" "0.871628" "02325" "NOTCH1_000141" "g.139410424A>G" "" "" "" "NOTCH1(NM_017617.5):c.1669+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515972A>G" "" "benign" "" "0000537432" "0" "10" "9" "139410437" "139410437" "subst" "0.0109717" "01943" "NOTCH1_000142" "g.139410437C>T" "" "" "" "NOTCH1(NM_017617.5):c.1665G>A (p.T555=, p.(Thr555=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515985C>T" "" "benign" "" "0000537433" "0" "10" "9" "139410467" "139410467" "subst" "0.00806959" "01943" "NOTCH1_000143" "g.139410467G>A" "" "" "" "NOTCH1(NM_017617.3):c.1635C>T (p.(Asp545=)), NOTCH1(NM_017617.5):c.1635C>T (p.D545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136516015G>A" "" "benign" "" "0000537434" "0" "10" "9" "139410467" "139410467" "subst" "0.00806959" "02327" "NOTCH1_000143" "g.139410467G>A" "" "" "" "NOTCH1(NM_017617.3):c.1635C>T (p.(Asp545=)), NOTCH1(NM_017617.5):c.1635C>T (p.D545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136516015G>A" "" "benign" "" "0000537435" "0" "30" "9" "139410555" "139410555" "subst" "0.000252515" "01943" "NOTCH1_000317" "g.139410555G>A" "" "" "" "NOTCH1(NM_017617.5):c.1556-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136516103G>A" "" "likely benign" "" "0000537436" "0" "30" "9" "139411705" "139411705" "subst" "0" "02329" "NOTCH1_000318" "g.139411705G>A" "" "" "" "NOTCH1(NM_017617.5):c.1555+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136517253G>A" "" "likely benign" "" "0000537437" "0" "30" "9" "139411713" "139411713" "subst" "0" "02327" "NOTCH1_000319" "g.139411713G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136517261G>A" "" "likely benign" "" "0000537438" "0" "10" "9" "139411714" "139411714" "subst" "0.452558" "02327" "NOTCH1_000145" "g.139411714T>C" "" "" "" "NOTCH1(NM_017617.5):c.1555+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136517262T>C" "" "benign" "" "0000537439" "0" "70" "9" "139411743" "139411743" "del" "0" "02327" "NOTCH1_000320" "g.139411743del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136517291del" "" "likely pathogenic" "" "0000537440" "0" "50" "9" "139411793" "139411793" "subst" "0" "02327" "NOTCH1_000321" "g.139411793T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136517341T>A" "" "VUS" "" "0000537441" "0" "30" "9" "139411873" "139411873" "subst" "0.00280486" "02327" "NOTCH1_000322" "g.139411873G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136517421G>A" "" "likely benign" "" "0000537442" "0" "10" "9" "139412197" "139412197" "subst" "0.576356" "02327" "NOTCH1_000148" "g.139412197G>A" "" "" "" "NOTCH1(NM_017617.5):c.1441+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136517745G>A" "" "benign" "" "0000537443" "0" "50" "9" "139412199" "139412199" "subst" "1.23128E-5" "02327" "NOTCH1_000323" "g.139412199C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136517747C>T" "" "VUS" "" "0000537444" "0" "30" "9" "139412238" "139412238" "subst" "4.08093E-6" "02327" "NOTCH1_000153" "g.139412238G>A" "" "" "" "NOTCH1(NM_017617.5):c.1407C>T (p.D469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136517786G>A" "" "likely benign" "" "0000537445" "0" "30" "9" "139412599" "139412599" "subst" "1.4483E-5" "02326" "NOTCH1_000324" "g.139412599C>T" "" "" "" "NOTCH1(NM_017617.5):c.1245G>A (p.E415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136518147C>T" "" "likely benign" "" "0000537446" "0" "30" "9" "139412599" "139412599" "subst" "1.4483E-5" "02329" "NOTCH1_000324" "g.139412599C>T" "" "" "" "NOTCH1(NM_017617.5):c.1245G>A (p.E415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136518147C>T" "" "likely benign" "" "0000537447" "0" "30" "9" "139412630" "139412630" "subst" "0" "01943" "NOTCH1_000325" "g.139412630G>A" "" "" "" "NOTCH1(NM_017617.5):c.1214C>T (p.T405M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136518178G>A" "" "likely benign" "" "0000537448" "0" "50" "9" "139412639" "139412639" "subst" "0" "01943" "NOTCH1_000326" "g.139412639G>A" "" "" "" "NOTCH1(NM_017617.3):c.1205C>T (p.(Ser402Leu)), NOTCH1(NM_017617.5):c.1205C>T (p.S402L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136518187G>A" "" "VUS" "" "0000537449" "0" "30" "9" "139412639" "139412639" "subst" "0" "02329" "NOTCH1_000326" "g.139412639G>A" "" "" "" "NOTCH1(NM_017617.3):c.1205C>T (p.(Ser402Leu)), NOTCH1(NM_017617.5):c.1205C>T (p.S402L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136518187G>A" "" "likely benign" "" "0000537450" "0" "30" "9" "139412725" "139412725" "subst" "0" "02329" "NOTCH1_000327" "g.139412725G>A" "" "" "" "NOTCH1(NM_017617.5):c.1119C>T (p.N373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136518273G>A" "" "likely benign" "" "0000537451" "0" "10" "9" "139412760" "139412760" "subst" "0.00269107" "02329" "NOTCH1_000328" "g.139412760C>G" "" "" "" "NOTCH1(NM_017617.5):c.1100-16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136518308C>G" "" "benign" "" "0000537452" "0" "10" "9" "139412884" "139412884" "subst" "0" "02327" "NOTCH1_000329" "g.139412884C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136518432C>T" "" "benign" "" "0000537453" "0" "50" "9" "139413103" "139413103" "subst" "1.24698E-5" "01804" "NOTCH1_000330" "g.139413103C>T" "" "" "" "NOTCH1(NM_017617.3):c.1039G>A (p.(Gly347Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136518651C>T" "" "VUS" "" "0000537454" "0" "70" "9" "139413171" "139413171" "subst" "0" "02327" "NOTCH1_000331" "g.139413171A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136518719A>T" "" "likely pathogenic" "" "0000537455" "0" "10" "9" "139413269" "139413269" "subst" "0.00117297" "02327" "NOTCH1_000332" "g.139413269G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136518817G>A" "" "benign" "" "0000537456" "0" "10" "9" "139413908" "139413908" "subst" "0.135305" "02327" "NOTCH1_000163" "g.139413908C>T" "" "" "" "NOTCH1(NM_017617.5):c.852G>A (p.P284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136519456C>T" "" "benign" "" "0000537457" "0" "30" "9" "139414010" "139414010" "subst" "0.00015481" "02326" "NOTCH1_000333" "g.139414010G>T" "" "" "" "NOTCH1(NM_017617.5):c.750C>A (p.T250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136519558G>T" "" "likely benign" "" "0000537458" "0" "30" "9" "139417262" "139417262" "subst" "3.35402E-5" "02327" "NOTCH1_000334" "g.139417262G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136522810G>A" "" "likely benign" "" "0000537459" "0" "50" "9" "139417413" "139417413" "subst" "0.000219817" "02329" "NOTCH1_000335" "g.139417413T>C" "" "" "" "NOTCH1(NM_017617.5):c.631A>G (p.T211A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136522961T>C" "" "VUS" "" "0000537460" "0" "30" "9" "139417423" "139417423" "subst" "0.000123377" "01943" "NOTCH1_000167" "g.139417423G>A" "" "" "" "NOTCH1(NM_017617.5):c.621C>T (p.R207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136522971G>A" "" "likely benign" "" "0000537461" "0" "70" "9" "139417476" "139417476" "subst" "0" "02327" "NOTCH1_000336" "g.139417476G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136523024G>A" "" "likely pathogenic" "" "0000537462" "0" "30" "9" "139417539" "139417539" "subst" "1.40382E-5" "01804" "NOTCH1_000337" "g.139417539T>C" "" "" "" "NOTCH1(NM_017617.3):c.505A>G (p.(Ser169Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136523087T>C" "" "likely benign" "" "0000537463" "0" "30" "9" "139418129" "139418129" "subst" "0" "02327" "NOTCH1_000338" "g.139418129C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136523677C>G" "" "likely benign" "" "0000537464" "0" "30" "9" "139418189" "139418189" "subst" "7.17808E-5" "01804" "NOTCH1_000339" "g.139418189C>T" "" "" "" "NOTCH1(NM_017617.3):c.383G>A (p.(Arg128His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136523737C>T" "" "likely benign" "" "0000537465" "0" "30" "9" "139418204" "139418204" "subst" "0.000950951" "01804" "NOTCH1_000170" "g.139418204G>A" "" "" "" "NOTCH1(NM_017617.3):c.368C>T (p.(Thr123Met)), NOTCH1(NM_017617.5):c.368C>T (p.T123M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136523752G>A" "" "likely benign" "" "0000537466" "0" "10" "9" "139418260" "139418260" "subst" "0.587179" "02327" "NOTCH1_000171" "g.139418260A>G" "" "" "" "NOTCH1(NM_017617.5):c.311_312delATinsAC (p.N104=), NOTCH1(NM_017617.5):c.312T>C (p.N104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136523808A>G" "" "benign" "" "0000537467" "0" "30" "9" "139418268" "139418268" "subst" "0" "01943" "NOTCH1_000340" "g.139418268G>T" "" "" "" "NOTCH1(NM_017617.5):c.304C>A (p.L102M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136523816G>T" "" "likely benign" "" "0000537468" "0" "30" "9" "139418342" "139418342" "subst" "4.27292E-6" "02327" "NOTCH1_000341" "g.139418342A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136523890A>C" "" "likely benign" "" "0000537469" "0" "30" "9" "139418407" "139418407" "subst" "0.00056639" "02327" "NOTCH1_000342" "g.139418407C>T" "" "" "" "NOTCH1(NM_017617.5):c.165G>A (p.P55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136523955C>T" "" "likely benign" "" "0000537470" "0" "30" "9" "139418407" "139418407" "subst" "0.00056639" "02329" "NOTCH1_000342" "g.139418407C>T" "" "" "" "NOTCH1(NM_017617.5):c.165G>A (p.P55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136523955C>T" "" "likely benign" "" "0000537471" "0" "30" "9" "139418416" "139418416" "subst" "0.000628596" "02329" "NOTCH1_000343" "g.139418416G>A" "" "" "" "NOTCH1(NM_017617.5):c.156C>T (p.F52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136523964G>A" "" "likely benign" "" "0000537472" "0" "90" "9" "139438473" "139438473" "subst" "0" "01943" "NOTCH1_000344" "g.139438473C>G" "" "" "" "NOTCH1(NM_017617.5):c.140+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136544021C>G" "" "pathogenic" "" "0000537473" "0" "30" "9" "139438552" "139438552" "subst" "0.00165826" "02329" "NOTCH1_000178" "g.139438552G>A" "" "" "" "NOTCH1(NM_017617.3):c.64C>T (p.(Pro22Ser)), NOTCH1(NM_017617.5):c.64C>T (p.P22S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136544100G>A" "" "likely benign" "" "0000537475" "0" "30" "9" "139440221" "139440221" "subst" "4.7776E-5" "02329" "NOTCH1_000346" "g.139440221C>A" "" "" "" "NOTCH1(NM_017617.5):c.18G>T (p.A6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136545769C>A" "" "likely benign" "" "0000537476" "0" "30" "9" "139440222" "139440222" "subst" "0" "02329" "NOTCH1_000347" "g.139440222G>A" "" "" "" "NOTCH1(NM_017617.5):c.17C>T (p.A6V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136545770G>A" "" "likely benign" "" "0000611995" "0" "30" "9" "139390742" "139390742" "subst" "0.000392822" "01943" "NOTCH1_000348" "g.139390742C>T" "" "" "" "NOTCH1(NM_017617.5):c.7449G>A (p.T2483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496290C>T" "" "likely benign" "" "0000611996" "0" "10" "9" "139390742" "139390742" "subst" "0.000392822" "02327" "NOTCH1_000348" "g.139390742C>T" "" "" "" "NOTCH1(NM_017617.5):c.7449G>A (p.T2483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496290C>T" "" "benign" "" "0000611997" "0" "50" "9" "139390794" "139390794" "subst" "4.20349E-5" "02327" "NOTCH1_000005" "g.139390794G>A" "" "" "" "NOTCH1(NM_017617.5):c.7397C>T (p.T2466M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496342G>A" "" "VUS" "" "0000611998" "0" "30" "9" "139391145" "139391145" "subst" "5.30859E-5" "02327" "NOTCH1_000350" "g.139391145G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496693G>A" "" "likely benign" "" "0000611999" "0" "50" "9" "139391163" "139391163" "subst" "3.67683E-5" "01804" "NOTCH1_000351" "g.139391163T>A" "" "" "" "NOTCH1(NM_017617.3):c.7028A>T (p.(Gln2343Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496711T>A" "" "VUS" "" "0000612000" "0" "30" "9" "139391477" "139391477" "subst" "0.00019816" "02329" "NOTCH1_000353" "g.139391477G>A" "" "" "" "NOTCH1(NM_017617.5):c.6714C>T (p.P2238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497025G>A" "" "likely benign" "" "0000612001" "0" "30" "9" "139391670" "139391670" "subst" "4.08878E-5" "02327" "NOTCH1_000018" "g.139391670T>C" "" "" "" "NOTCH1(NM_017617.5):c.6521A>G (p.K2174R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497218T>C" "" "likely benign" "" "0000612002" "0" "30" "9" "139391893" "139391893" "subst" "2.90228E-5" "02327" "NOTCH1_000022" "g.139391893T>C" "" "" "" "NOTCH1(NM_017617.5):c.6298A>G (p.I2100V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136497441T>C" "" "likely benign" "" "0000612003" "0" "30" "9" "139395220" "139395220" "subst" "5.46632E-5" "02327" "NOTCH1_000218" "g.139395220C>T" "" "" "" "NOTCH1(NM_017617.5):c.5718G>A (p.A1906=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136500768C>T" "" "likely benign" "" "0000612004" "0" "50" "9" "139396538" "139396538" "subst" "1.22292E-5" "01804" "NOTCH1_000039" "g.139396538G>T" "" "" "" "NOTCH1(NM_017617.3):c.5387C>A (p.(Pro1796His)), NOTCH1(NM_017617.5):c.5387C>A (p.P1796H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136502086G>T" "" "VUS" "" "0000612005" "0" "30" "9" "139396925" "139396925" "subst" "0.000150924" "01804" "NOTCH1_000356" "g.139396925G>A" "" "" "" "NOTCH1(NM_017617.3):c.5183C>T (p.(Pro1728Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136502473G>A" "" "likely benign" "" "0000612006" "0" "30" "9" "139399158" "139399158" "subst" "0" "02326" "NOTCH1_000052" "g.139399158C>T" "" "" "" "NOTCH1(NM_017617.5):c.4985G>A (p.R1662Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136504706C>T" "" "likely benign" "" "0000612007" "0" "30" "9" "139399932" "139399932" "subst" "1.22465E-5" "02327" "NOTCH1_000357" "g.139399932G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505480G>A" "" "likely benign" "" "0000612008" "0" "50" "9" "139401039" "139401039" "subst" "2.48925E-5" "02326" "NOTCH1_000358" "g.139401039A>T" "" "" "" "NOTCH1(NM_017617.5):c.3954T>A (p.N1318K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506587A>T" "" "VUS" "" "0000612009" "0" "30" "9" "139401169" "139401169" "subst" "3.72259E-5" "02327" "NOTCH1_000359" "g.139401169G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506717G>A" "" "likely benign" "" "0000612010" "0" "30" "9" "139401292" "139401292" "subst" "1.65082E-5" "02326" "NOTCH1_000360" "g.139401292G>A" "" "" "" "NOTCH1(NM_017617.5):c.3777C>T (p.F1259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506840G>A" "" "likely benign" "" "0000612011" "0" "30" "9" "139401345" "139401345" "subst" "2.49784E-5" "01804" "NOTCH1_000361" "g.139401345C>T" "" "" "" "NOTCH1(NM_017617.3):c.3724G>A (p.(Gly1242Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506893C>T" "" "likely benign" "" "0000612012" "0" "50" "9" "139401390" "139401390" "dup" "0" "01804" "NOTCH1_000362" "g.139401390dup" "" "" "" "NOTCH1(NM_017617.3):c.3684dup (p.(Val1229ArgfsTer2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506938dup" "" "VUS" "" "0000612013" "0" "30" "9" "139402404" "139402404" "subst" "8.18317E-5" "02327" "NOTCH1_000085" "g.139402404C>T" "" "" "" "NOTCH1(NM_017617.5):c.3510+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136507952C>T" "" "likely benign" "" "0000612014" "0" "30" "9" "139402675" "139402675" "subst" "1.23177E-5" "02326" "NOTCH1_000363" "g.139402675G>T" "" "" "" "NOTCH1(NM_017617.5):c.3325+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136508223G>T" "" "likely benign" "" "0000612015" "0" "30" "9" "139403331" "139403331" "subst" "0" "01943" "NOTCH1_000364" "g.139403331G>T" "" "" "" "NOTCH1(NM_017617.5):c.3162C>A (p.P1054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136508879G>T" "" "likely benign" "" "0000612016" "0" "50" "9" "139403492" "139403492" "subst" "0" "01804" "NOTCH1_000284" "g.139403492C>T" "" "" "" "NOTCH1(NM_017617.3):c.3001G>A (p.(Gly1001Ser)), NOTCH1(NM_017617.5):c.3001G>A (p.G1001S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136509040C>T" "" "VUS" "" "0000612017" "0" "30" "9" "139405170" "139405170" "subst" "4.31198E-6" "01943" "NOTCH1_000365" "g.139405170C>T" "" "" "" "NOTCH1(NM_017617.5):c.2675G>A (p.R892H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136510718C>T" "" "likely benign" "" "0000612018" "0" "30" "9" "139408952" "139408952" "subst" "0.00340413" "02327" "NOTCH1_000121" "g.139408952C>T" "" "" "" "NOTCH1(NM_017617.5):c.2207+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136514500C>T" "" "likely benign" "" "0000612019" "0" "50" "9" "139409076" "139409076" "subst" "4.17502E-6" "02327" "NOTCH1_000367" "g.139409076T>C" "" "" "" "NOTCH1(NM_017617.5):c.2093A>G (p.N698S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136514624T>C" "" "VUS" "" "0000612020" "0" "30" "9" "139409975" "139409975" "subst" "4.11879E-5" "02327" "NOTCH1_000132" "g.139409975G>A" "" "" "" "NOTCH1(NM_017617.5):c.1863C>T (p.R621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515523G>A" "" "likely benign" "" "0000612022" "0" "90" "9" "139413126" "139413127" "del" "0" "01943" "NOTCH1_000372" "g.139413126_139413127del" "" "" "" "NOTCH1(NM_017617.5):c.1017_1018delTG (p.A340Qfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136518674_136518675del" "" "pathogenic" "" "0000612023" "0" "30" "9" "139413263" "139413263" "subst" "9.8016E-5" "02327" "NOTCH1_000373" "g.139413263G>A" "" "" "" "NOTCH1(NM_017617.5):c.879C>T (p.T293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136518811G>A" "" "likely benign" "" "0000612024" "0" "50" "9" "139417470" "139417470" "subst" "0" "02325" "NOTCH1_000374" "g.139417470C>T" "" "" "" "NOTCH1(NM_017617.5):c.574G>A (p.G192R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136523018C>T" "" "VUS" "" "0000612025" "0" "30" "9" "139417612" "139417612" "subst" "0.000462588" "01804" "NOTCH1_000375" "g.139417612G>A" "" "" "" "NOTCH1(NM_017617.3):c.432C>T (p.(Cys144=)), NOTCH1(NM_017617.5):c.432C>T (p.C144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136523160G>A" "" "likely benign" "" "0000612026" "0" "50" "9" "139418361" "139418361" "subst" "0" "02327" "NOTCH1_000376" "g.139418361C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136523909C>G" "" "VUS" "" "0000622217" "0" "30" "9" "139390947" "139390947" "subst" "0" "02326" "NOTCH1_000349" "g.139390947G>A" "" "" "" "NOTCH1(NM_017617.5):c.7244C>T (p.P2415L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496495G>A" "" "likely benign" "" "0000622218" "0" "50" "9" "139391292" "139391292" "subst" "0" "02326" "NOTCH1_000352" "g.139391292C>T" "" "" "" "NOTCH1(NM_017617.5):c.6899G>A (p.G2300E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496840C>T" "" "VUS" "" "0000622219" "0" "30" "9" "139393426" "139393426" "subst" "0.000239771" "01943" "NOTCH1_000354" "g.139393426G>A" "" "" "" "NOTCH1(NM_017617.5):c.6105C>T (p.A2035=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136498974G>A" "" "likely benign" "" "0000622220" "0" "50" "9" "139395037" "139395037" "subst" "4.10748E-5" "01943" "NOTCH1_000355" "g.139395037C>T" "" "" "" "NOTCH1(NM_017617.5):c.5901G>A (p.A1967=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136500585C>T" "" "VUS" "" "0000622221" "0" "50" "9" "139399856" "139399856" "subst" "3.68632E-5" "01943" "NOTCH1_000060" "g.139399856T>C" "" "" "" "NOTCH1(NM_017617.5):c.4492A>G (p.K1498E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136505404T>C" "" "VUS" "" "0000622222" "0" "10" "9" "139405154" "139405154" "subst" "0.0121155" "01943" "NOTCH1_000108" "g.139405154G>A" "" "" "" "NOTCH1(NM_017617.5):c.2691C>T (p.A897=, p.(Ala897=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136510702G>A" "" "benign" "" "0000622223" "0" "50" "9" "139407512" "139407512" "subst" "4.07282E-6" "01943" "NOTCH1_000366" "g.139407512C>T" "" "" "" "NOTCH1(NM_017617.5):c.2428G>A (p.V810I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136513060C>T" "" "VUS" "" "0000622224" "0" "50" "9" "139409076" "139409076" "subst" "4.17502E-6" "01943" "NOTCH1_000367" "g.139409076T>C" "" "" "" "NOTCH1(NM_017617.5):c.2093A>G (p.N698S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136514624T>C" "" "VUS" "" "0000622225" "0" "50" "9" "139409769" "139409769" "subst" "8.14458E-6" "02326" "NOTCH1_000368" "g.139409769C>T" "" "" "" "NOTCH1(NM_017617.5):c.1987G>A (p.E663K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515317C>T" "" "VUS" "" "0000622226" "0" "50" "9" "139410037" "139410037" "subst" "5.41635E-5" "02326" "NOTCH1_000309" "g.139410037C>T" "" "" "" "NOTCH1(NM_017617.5):c.1801G>A (p.(Glu601Lys), p.E601K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515585C>T" "" "VUS" "" "0000622227" "0" "50" "9" "139410441" "139410441" "subst" "0" "01943" "NOTCH1_000370" "g.139410441C>T" "" "" "" "NOTCH1(NM_017617.5):c.1661G>A (p.C554Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515989C>T" "" "VUS" "" "0000622228" "0" "30" "9" "139411736" "139411736" "subst" "4.37813E-5" "02329" "NOTCH1_000371" "g.139411736C>G" "" "" "" "NOTCH1(NM_017617.5):c.1543G>C (p.E515Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136517284C>G" "" "likely benign" "" "0000622229" "0" "30" "9" "139412599" "139412599" "subst" "1.4483E-5" "01943" "NOTCH1_000324" "g.139412599C>T" "" "" "" "NOTCH1(NM_017617.5):c.1245G>A (p.E415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136518147C>T" "" "likely benign" "" "0000622230" "0" "30" "9" "139417612" "139417612" "subst" "0.000462588" "02329" "NOTCH1_000375" "g.139417612G>A" "" "" "" "NOTCH1(NM_017617.3):c.432C>T (p.(Cys144=)), NOTCH1(NM_017617.5):c.432C>T (p.C144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136523160G>A" "" "likely benign" "" "0000652665" "1" "10" "9" "139399320" "139399320" "subst" "0.0106969" "03575" "NOTCH1_000238" "g.139399320C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs76371972}" "Germline" "" "rs76371972" "0" "" "" "g.136504868C>T" "" "benign" "" "0000652666" "1" "50" "9" "139400086" "139400086" "subst" "0.000176432" "03575" "NOTCH1_000377" "g.139400086T>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs76473337}" "Germline" "" "rs76473337" "0" "" "" "g.136505634T>C" "" "VUS" "" "0000652667" "1" "50" "9" "139401023" "139401023" "subst" "0.000149953" "03575" "NOTCH1_000378" "g.139401023C>T" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs149057410}" "Germline" "" "rs149057410" "0" "" "" "g.136506571C>T" "" "VUS" "" "0000652668" "1" "10" "9" "139401233" "139401233" "subst" "0.0153129" "03575" "NOTCH1_000077" "g.139401233C>T" "32/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "32 heterozygous; {DB:CLININrs61751543}" "Germline" "" "rs61751543" "0" "" "" "g.136506781C>T" "" "benign" "" "0000652669" "1" "50" "9" "139412350" "139412350" "subst" "0.000196123" "03575" "NOTCH1_000156" "g.139412350G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs200562991}" "Germline" "" "rs200562991" "0" "" "" "g.136517898G>A" "" "VUS" "" "0000656296" "0" "30" "9" "139390878" "139390878" "subst" "2.17208E-5" "01943" "NOTCH1_000379" "g.139390878G>A" "" "" "" "NOTCH1(NM_017617.5):c.7313C>T (p.P2438L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496426G>A" "" "likely benign" "" "0000656297" "0" "30" "9" "139391284" "139391284" "subst" "8.1694E-6" "02326" "NOTCH1_000380" "g.139391284T>C" "" "" "" "NOTCH1(NM_017617.5):c.6907A>G (p.S2303G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496832T>C" "" "likely benign" "" "0000656298" "0" "30" "9" "139391441" "139391441" "subst" "2.92836E-5" "01943" "NOTCH1_000381" "g.139391441C>T" "" "" "" "NOTCH1(NM_017617.5):c.6750G>A (p.A2250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136496989C>T" "" "likely benign" "" "0000656299" "0" "30" "9" "139401375" "139401375" "subst" "4.17014E-5" "02326" "NOTCH1_000267" "g.139401375C>T" "" "" "" "NOTCH1(NM_017617.5):c.3694G>A (p.V1232M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136506923C>T" "" "likely benign" "" "0000656300" "0" "30" "9" "139403532" "139403532" "subst" "0.000112148" "02329" "NOTCH1_000097" "g.139403532G>A" "" "" "" "NOTCH1(NM_017617.5):c.2970-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136509080G>A" "" "likely benign" "" "0000656301" "0" "30" "9" "139404592" "139404592" "subst" "0" "02329" "NOTCH1_000382" "g.139404592C>G" "" "" "" "NOTCH1(NM_017617.5):c.2741-179G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136510140C>G" "" "likely benign" "" "0000656302" "0" "30" "9" "139407377" "139407377" "subst" "0" "02329" "NOTCH1_000383" "g.139407377A>C" "" "" "" "NOTCH1(NM_017617.5):c.2467+96T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136512925A>C" "" "likely benign" "" "0000656303" "0" "30" "9" "139407383" "139407383" "subst" "0" "02329" "NOTCH1_000384" "g.139407383T>C" "" "" "" "NOTCH1(NM_017617.5):c.2467+90A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136512931T>C" "" "likely benign" "" "0000656304" "0" "30" "9" "139407445" "139407445" "subst" "0.00544277" "02329" "NOTCH1_000385" "g.139407445T>C" "" "" "" "NOTCH1(NM_017617.5):c.2467+28A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136512993T>C" "" "likely benign" "" "0000656305" "0" "30" "9" "139409410" "139409410" "subst" "0" "02329" "NOTCH1_000386" "g.139409410G>T" "" "" "" "NOTCH1(NM_017617.5):c.2015-256C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136514958G>T" "" "likely benign" "" "0000656306" "0" "30" "9" "139410187" "139410187" "subst" "0.000167163" "02326" "NOTCH1_000315" "g.139410187G>A" "" "" "" "NOTCH1(NM_017617.5):c.1670-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136515735G>A" "" "likely benign" "" "0000656307" "0" "30" "9" "139418204" "139418204" "subst" "0.000950951" "02329" "NOTCH1_000170" "g.139418204G>A" "" "" "" "NOTCH1(NM_017617.3):c.368C>T (p.(Thr123Met)), NOTCH1(NM_017617.5):c.368C>T (p.T123M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136523752G>A" "" "likely benign" "" "0000667586" "1" "70" "9" "139403441" "139403441" "del" "0" "00006" "NOTCH1_000387" "g.139403441del" "" "{PMID:Helbig 2016:26795593}" "" "3052delT" "" "Germline" "" "" "0" "" "" "g.136508989del" "" "likely pathogenic" "ACMG" "0000670055" "3" "10" "9" "139401233" "139401233" "subst" "0.0153129" "03575" "NOTCH1_000077" "g.139401233C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs61751543}" "Germline" "" "rs61751543" "0" "" "" "g.136506781C>T" "" "benign" "" "0000675205" "0" "70" "9" "139393350" "139393350" "subst" "0" "03753" "NOTCH1_000390" "g.139393350C>T" "0.044" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000678597" "0" "50" "9" "139391319" "139391319" "subst" "0" "02326" "NOTCH1_000388" "g.139391319C>T" "" "" "" "NOTCH1(NM_017617.5):c.6872G>A (p.G2291E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678598" "0" "10" "9" "139391737" "139391737" "subst" "0.0011043" "01804" "NOTCH1_000019" "g.139391737C>G" "" "" "" "NOTCH1(NM_017617.3):c.6454G>C (p.(Gly2152Arg)), NOTCH1(NM_017617.5):c.6454G>C (p.G2152R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000678599" "0" "30" "9" "139392112" "139392112" "subst" "0" "02329" "NOTCH1_000389" "g.139392112C>T" "" "" "" "NOTCH1(NM_017617.5):c.6181-102G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678600" "0" "30" "9" "139393452" "139393452" "subst" "4.47445E-5" "01943" "NOTCH1_000213" "g.139393452C>T" "" "" "" "NOTCH1(NM_017617.5):c.6083-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678601" "0" "30" "9" "139396181" "139396181" "subst" "0.000197843" "02326" "NOTCH1_000034" "g.139396181T>C" "" "" "" "NOTCH1(NM_017617.5):c.5638+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678602" "0" "50" "9" "139396758" "139396758" "subst" "0" "02325" "NOTCH1_000391" "g.139396758G>A" "" "" "" "NOTCH1(NM_017617.5):c.5350C>T (p.R1784W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678603" "0" "50" "9" "139396893" "139396893" "subst" "6.27043E-5" "02326" "NOTCH1_000392" "g.139396893C>T" "" "" "" "NOTCH1(NM_017617.5):c.5215G>A (p.(Val1739Met), p.V1739M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678604" "0" "50" "9" "139399159" "139399159" "subst" "0" "01943" "NOTCH1_000393" "g.139399159G>A" "" "" "" "NOTCH1(NM_017617.5):c.4984C>T (p.R1662W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678605" "0" "50" "9" "139399489" "139399489" "subst" "0" "02325" "NOTCH1_000394" "g.139399489C>T" "" "" "" "NOTCH1(NM_017617.5):c.4654G>A (p.A1552T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678606" "0" "50" "9" "139400317" "139400317" "subst" "0.000449918" "01804" "NOTCH1_000257" "g.139400317G>A" "" "" "" "NOTCH1(NM_017617.3):c.4031C>T (p.(Thr1344Met)), NOTCH1(NM_017617.5):c.4031C>T (p.T1344M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678607" "0" "70" "9" "139401275" "139401276" "del" "0" "02327" "NOTCH1_000395" "g.139401275_139401276del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678608" "0" "30" "9" "139401289" "139401289" "subst" "0.00175239" "01804" "NOTCH1_000079" "g.139401289C>G" "" "" "" "NOTCH1(NM_017617.3):c.3780G>C (p.(Val1260=)), NOTCH1(NM_017617.5):c.3780G>C (p.V1260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678609" "0" "90" "9" "139402833" "139402833" "del" "0" "02326" "NOTCH1_000396" "g.139402833del" "" "" "" "NOTCH1(NM_017617.5):c.3177delT (p.V1060Cfs*119)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000678610" "0" "50" "9" "139403492" "139403492" "subst" "0" "01943" "NOTCH1_000284" "g.139403492C>T" "" "" "" "NOTCH1(NM_017617.3):c.3001G>A (p.(Gly1001Ser)), NOTCH1(NM_017617.5):c.3001G>A (p.G1001S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678611" "0" "50" "9" "139407932" "139407934" "del" "0.000215877" "01943" "NOTCH1_000397" "g.139407932_139407934del" "" "" "" "NOTCH1(NM_017617.5):c.2263_2265del (p.(Asn755del)), NOTCH1(NM_017617.5):c.2263_2265delAAT (p.N755del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678612" "0" "30" "9" "139410178" "139410178" "subst" "6.76926E-5" "02329" "NOTCH1_000314" "g.139410178G>A" "" "" "" "NOTCH1(NM_017617.5):c.1670-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678613" "0" "10" "9" "139410467" "139410467" "subst" "0.00806959" "01804" "NOTCH1_000143" "g.139410467G>A" "" "" "" "NOTCH1(NM_017617.3):c.1635C>T (p.(Asp545=)), NOTCH1(NM_017617.5):c.1635C>T (p.D545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000678614" "0" "30" "9" "139412758" "139412758" "subst" "0.000221176" "02326" "NOTCH1_000398" "g.139412758G>A" "" "" "" "NOTCH1(NM_017617.5):c.1100-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678615" "0" "30" "9" "139417591" "139417591" "subst" "9.66617E-5" "02326" "NOTCH1_000399" "g.139417591G>A" "" "" "" "NOTCH1(NM_017617.5):c.453C>T (p.N151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678616" "0" "30" "9" "139438552" "139438552" "subst" "0.00165826" "01804" "NOTCH1_000178" "g.139438552G>A" "" "" "" "NOTCH1(NM_017617.3):c.64C>T (p.(Pro22Ser)), NOTCH1(NM_017617.5):c.64C>T (p.P22S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690463" "0" "30" "9" "139390759" "139390759" "subst" "0" "02326" "NOTCH1_000400" "g.139390759C>T" "" "" "" "NOTCH1(NM_017617.5):c.7432G>A (p.A2478T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690464" "0" "30" "9" "139390766" "139390766" "subst" "3.65667E-5" "02326" "NOTCH1_000401" "g.139390766G>A" "" "" "" "NOTCH1(NM_017617.5):c.7425C>T (p.P2475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690465" "0" "30" "9" "139391211" "139391211" "subst" "0.000208371" "01943" "NOTCH1_000189" "g.139391211C>T" "" "" "" "NOTCH1(NM_017617.5):c.6980G>A (p.R2327Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690466" "0" "10" "9" "139391506" "139391506" "subst" "0.000185041" "02326" "NOTCH1_000016" "g.139391506C>T" "" "" "" "NOTCH1(NM_017617.5):c.6685G>A (p.V2229M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690467" "0" "50" "9" "139391710" "139391710" "subst" "5.74698E-5" "01943" "NOTCH1_000402" "g.139391710G>A" "" "" "" "NOTCH1(NM_017617.5):c.6481C>T (p.P2161S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690468" "0" "10" "9" "139399132" "139399132" "subst" "0.0024396" "02326" "NOTCH1_000051" "g.139399132C>T" "" "" "" "NOTCH1(NM_017617.3):c.5011G>A (p.(Val1671Ile)), NOTCH1(NM_017617.5):c.5011G>A (p.V1671I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690469" "0" "30" "9" "139399226" "139399226" "subst" "0.000506873" "01943" "NOTCH1_000236" "g.139399226G>A" "" "" "" "NOTCH1(NM_017617.5):c.4917C>T (p.A1639=, p.(Ala1639Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690470" "0" "30" "9" "139399508" "139399508" "subst" "5.87544E-5" "02329" "NOTCH1_000244" "g.139399508G>A" "" "" "" "NOTCH1(NM_017617.5):c.4635C>T (p.C1545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690471" "0" "30" "9" "139400040" "139400040" "subst" "9.19394E-5" "01943" "NOTCH1_000403" "g.139400040G>A" "" "" "" "NOTCH1(NM_017617.5):c.4308C>T (p.A1436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690472" "0" "30" "9" "139400253" "139400253" "subst" "0.000260083" "02326" "NOTCH1_000254" "g.139400253G>A" "" "" "" "NOTCH1(NM_017617.5):c.4095C>T (p.S1365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690473" "0" "30" "9" "139402572" "139402572" "subst" "2.90843E-5" "02326" "NOTCH1_000404" "g.139402572C>A" "" "" "" "NOTCH1(NM_017617.5):c.3345G>T (p.L1115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690474" "0" "10" "9" "139402694" "139402694" "subst" "0.00255583" "02329" "NOTCH1_000090" "g.139402694C>A" "" "" "" "NOTCH1(NM_017617.5):c.3315G>T (p.A1105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690475" "0" "50" "9" "139403372" "139403372" "subst" "2.69814E-5" "02326" "NOTCH1_000279" "g.139403372C>T" "" "" "" "NOTCH1(NM_017617.5):c.3121G>A (p.G1041S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690476" "0" "30" "9" "139403482" "139403482" "subst" "0.000178249" "01804" "NOTCH1_000283" "g.139403482G>A" "" "" "" "NOTCH1(NM_017617.3):c.3011C>T (p.(Ser1004Leu)), NOTCH1(NM_017617.5):c.3011C>T (p.S1004L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690477" "0" "50" "9" "139403510" "139403510" "subst" "0" "02325" "NOTCH1_000405" "g.139403510C>T" "" "" "" "NOTCH1(NM_017617.3):c.2983G>A (p.(Gly995Ser)), NOTCH1(NM_017617.5):c.2983G>A (p.G995S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690478" "0" "30" "9" "139404098" "139404098" "subst" "0" "02329" "NOTCH1_000406" "g.139404098C>T" "" "" "" "NOTCH1(NM_017617.5):c.2969+87G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690479" "0" "50" "9" "139409775" "139409775" "subst" "0.000394913" "02326" "NOTCH1_000305" "g.139409775C>T" "" "" "" "NOTCH1(NM_017617.5):c.1981G>A (p.G661S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690480" "0" "30" "9" "139411451" "139411451" "subst" "0" "02329" "NOTCH1_000407" "g.139411451C>G" "" "" "" "NOTCH1(NM_017617.5):c.1555+273G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690481" "0" "30" "9" "139413263" "139413263" "subst" "9.8016E-5" "01943" "NOTCH1_000373" "g.139413263G>A" "" "" "" "NOTCH1(NM_017617.5):c.879C>T (p.T293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690482" "0" "30" "9" "139417447" "139417447" "subst" "6.36068E-6" "01943" "NOTCH1_000408" "g.139417447G>A" "" "" "" "NOTCH1(NM_017617.5):c.597C>T (p.V199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693912" "11" "50" "9" "139391076" "139391076" "subst" "0.000114152" "03763" "NOTCH1_000409" "g.139391076C>T" "" "{PMID:Kaiwar 2017:28963436}" "" "" "" "Germline" "?" "" "0" "" "" "" "" "VUS" "" "0000710715" "0" "50" "9" "139401210" "139401210" "subst" "0" "01164" "NOTCH1_000410" "g.139401210G>A" "" "" "" "" "ACMG: PM2, PP3: class 3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000722388" "0" "50" "9" "139390743" "139390743" "subst" "0" "01943" "NOTCH1_000411" "g.139390743G>A" "" "" "" "NOTCH1(NM_017617.5):c.7448C>T (p.T2483M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722389" "0" "30" "9" "139391211" "139391211" "subst" "0.000208371" "02326" "NOTCH1_000189" "g.139391211C>T" "" "" "" "NOTCH1(NM_017617.5):c.6980G>A (p.R2327Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722390" "0" "70" "9" "139391288" "139391294" "del" "0" "02325" "NOTCH1_000412" "g.139391288_139391294del" "" "" "" "NOTCH1(NM_017617.5):c.6897_6903delCGGGTCC (p.G2300Pfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722391" "0" "30" "9" "139391762" "139391762" "subst" "0.000196887" "02329" "NOTCH1_000020" "g.139391762G>A" "" "" "" "NOTCH1(NM_017617.5):c.6429C>T (p.N2143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722392" "0" "50" "9" "139391836" "139391836" "subst" "0" "02325" "NOTCH1_000413" "g.139391836C>A" "" "" "" "NOTCH1(NM_017617.5):c.6355G>T (p.V2119L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722393" "0" "30" "9" "139393426" "139393426" "subst" "0.000239771" "02329" "NOTCH1_000354" "g.139393426G>A" "" "" "" "NOTCH1(NM_017617.5):c.6105C>T (p.A2035=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722394" "0" "50" "9" "139393702" "139393702" "subst" "4.08787E-6" "02325" "NOTCH1_000414" "g.139393702G>A" "" "" "" "NOTCH1(NM_017617.5):c.5944C>T (p.R1982W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722395" "0" "30" "9" "139395683" "139395683" "subst" "0" "02329" "NOTCH1_000415" "g.139395683C>T" "" "" "" "NOTCH1(NM_017617.5):c.5639-384G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722396" "0" "30" "9" "139396886" "139396886" "subst" "0" "02329" "NOTCH1_000042" "g.139396886G>A" "" "" "" "NOTCH1(NM_017617.5):c.5222C>T (p.A1741V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722397" "0" "50" "9" "139396932" "139396932" "subst" "0" "02325" "NOTCH1_000044" "g.139396932C>T" "" "" "" "NOTCH1(NM_017617.5):c.5176G>A (p.V1726M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722398" "0" "30" "9" "139399992" "139399992" "subst" "2.87962E-5" "02326" "NOTCH1_000416" "g.139399992G>A" "" "" "" "NOTCH1(NM_017617.5):c.4356C>T (p.P1452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722399" "0" "50" "9" "139400270" "139400270" "subst" "0" "01943" "NOTCH1_000255" "g.139400270C>T" "" "" "" "NOTCH1(NM_017617.5):c.4078G>A (p.G1360S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722400" "0" "50" "9" "139400976" "139400976" "subst" "0" "01943" "NOTCH1_000417" "g.139400976T>C" "" "" "" "NOTCH1(NM_017617.5):c.4014+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722401" "0" "10" "9" "139401233" "139401233" "subst" "0.0153129" "02325" "NOTCH1_000077" "g.139401233C>T" "" "" "" "NOTCH1(NM_017617.3):c.3836G>A (p.(Arg1279His)), NOTCH1(NM_017617.5):c.3836G>A (p.R1279H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722402" "0" "30" "9" "139401747" "139401747" "subst" "0" "01943" "NOTCH1_000418" "g.139401747C>T" "" "" "" "NOTCH1(NM_017617.5):c.3643+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722403" "0" "30" "9" "139404349" "139404349" "subst" "0.000142361" "02326" "NOTCH1_000101" "g.139404349G>A" "" "" "" "NOTCH1(NM_017617.5):c.2805C>T (p.P935=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722404" "0" "90" "9" "139405192" "139405192" "subst" "0" "02325" "NOTCH1_000419" "g.139405192G>A" "" "" "" "NOTCH1(NM_017617.5):c.2653C>T (p.Q885*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722405" "0" "30" "9" "139405671" "139405671" "subst" "4.49427E-5" "01943" "NOTCH1_000420" "g.139405671G>A" "" "" "" "NOTCH1(NM_017617.5):c.2520C>T (p.N840=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722406" "0" "30" "9" "139405696" "139405696" "subst" "0.000525064" "01943" "NOTCH1_000421" "g.139405696G>A" "" "" "" "NOTCH1(NM_017617.5):c.2495C>T (p.P832L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722407" "0" "30" "9" "139407830" "139407830" "subst" "0.000232647" "02326" "NOTCH1_000300" "g.139407830C>T" "" "" "" "NOTCH1(NM_017617.5):c.2353+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722408" "0" "50" "9" "139409753" "139409753" "subst" "4.07511E-5" "02326" "NOTCH1_000304" "g.139409753G>A" "" "" "" "NOTCH1(NM_017617.5):c.2003C>T (p.(Pro668Leu), p.P668L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722409" "0" "90" "9" "139409983" "139409983" "subst" "0" "02329" "NOTCH1_000134" "g.139409983G>A" "" "" "" "NOTCH1(NM_017617.5):c.1855C>T (p.Q619*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722410" "0" "50" "9" "139410037" "139410037" "subst" "5.41635E-5" "02325" "NOTCH1_000309" "g.139410037C>T" "" "" "" "NOTCH1(NM_017617.5):c.1801G>A (p.(Glu601Lys), p.E601K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722411" "0" "50" "9" "139411769" "139411769" "subst" "2.92403E-5" "01943" "NOTCH1_000146" "g.139411769G>A" "" "" "" "NOTCH1(NM_017617.5):c.1510C>T (p.R504C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722412" "0" "50" "9" "139412639" "139412639" "subst" "0" "02325" "NOTCH1_000326" "g.139412639G>A" "" "" "" "NOTCH1(NM_017617.3):c.1205C>T (p.(Ser402Leu)), NOTCH1(NM_017617.5):c.1205C>T (p.S402L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722413" "0" "30" "9" "139413433" "139413433" "subst" "0" "02329" "NOTCH1_000422" "g.139413433C>T" "" "" "" "NOTCH1(NM_017617.5):c.866-157G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722414" "0" "50" "9" "139413921" "139413921" "subst" "0.000107028" "01943" "NOTCH1_000423" "g.139413921T>C" "" "" "" "NOTCH1(NM_017617.5):c.839A>G (p.N280S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722415" "0" "30" "9" "139418724" "139418724" "subst" "0" "02329" "NOTCH1_000424" "g.139418724C>A" "" "" "" "NOTCH1(NM_017617.5):c.141-293G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803986" "0" "50" "9" "139390968" "139390968" "subst" "0.000105236" "02326" "NOTCH1_000425" "g.139390968A>G" "" "" "" "NOTCH1(NM_017617.5):c.7223T>C (p.L2408P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803987" "0" "50" "9" "139391614" "139391614" "subst" "1.22443E-5" "01943" "NOTCH1_000426" "g.139391614T>C" "" "" "" "NOTCH1(NM_017617.5):c.6577A>G (p.S2193G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803988" "0" "50" "9" "139391614" "139391614" "subst" "1.22443E-5" "02325" "NOTCH1_000426" "g.139391614T>C" "" "" "" "NOTCH1(NM_017617.5):c.6577A>G (p.S2193G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803989" "0" "30" "9" "139391816" "139391816" "subst" "0.000180998" "01943" "NOTCH1_000427" "g.139391816G>A" "" "" "" "NOTCH1(NM_017617.5):c.6375C>T (p.H2125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803990" "0" "30" "9" "139396735" "139396735" "subst" "3.37422E-5" "01943" "NOTCH1_000428" "g.139396735G>A" "" "" "" "NOTCH1(NM_017617.5):c.5373C>T (p.S1791=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803991" "0" "50" "9" "139399180" "139399180" "subst" "0" "01943" "NOTCH1_000429" "g.139399180C>G" "" "" "" "NOTCH1(NM_017617.5):c.4963G>C (p.G1655R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803992" "0" "50" "9" "139399504" "139399504" "subst" "4.19147E-6" "01943" "NOTCH1_000430" "g.139399504G>C" "" "" "" "NOTCH1(NM_017617.5):c.4639C>G (p.Q1547E, p.(Gln1547Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803993" "0" "30" "9" "139399905" "139399905" "subst" "0" "01943" "NOTCH1_000248" "g.139399905G>A" "" "" "" "NOTCH1(NM_017617.5):c.4443C>T (p.L1481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803994" "0" "50" "9" "139401216" "139401216" "subst" "5.56283E-5" "02326" "NOTCH1_000264" "g.139401216C>T" "" "" "" "NOTCH1(NM_017617.5):c.3853G>A (p.(Val1285Met), p.V1285M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803995" "0" "50" "9" "139401802" "139401802" "subst" "9.81041E-5" "01943" "NOTCH1_000431" "g.139401802C>T" "" "" "" "NOTCH1(NM_017617.5):c.3598G>A (p.D1200N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803996" "0" "30" "9" "139402721" "139402721" "subst" "8.97989E-5" "02326" "NOTCH1_000092" "g.139402721C>G" "" "" "" "NOTCH1(NM_017617.5):c.3288G>C (p.V1096=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803997" "0" "50" "9" "139402738" "139402738" "subst" "5.7093E-5" "02326" "NOTCH1_000273" "g.139402738C>T" "" "" "" "NOTCH1(NM_017617.5):c.3271G>A (p.(Gly1091Ser), p.G1091S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803998" "0" "50" "9" "139407526" "139407526" "subst" "0" "01943" "NOTCH1_000432" "g.139407526G>C" "" "" "" "NOTCH1(NM_017617.5):c.2414C>G (p.T805R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803999" "0" "50" "9" "139407901" "139407901" "subst" "2.85209E-5" "02326" "NOTCH1_000433" "g.139407901C>T" "" "" "" "NOTCH1(NM_017617.5):c.2296G>A (p.G766S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804000" "0" "50" "9" "139409753" "139409753" "subst" "4.07511E-5" "02329" "NOTCH1_000304" "g.139409753G>A" "" "" "" "NOTCH1(NM_017617.5):c.2003C>T (p.(Pro668Leu), p.P668L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804001" "0" "30" "9" "139412238" "139412238" "subst" "4.08093E-6" "01943" "NOTCH1_000153" "g.139412238G>A" "" "" "" "NOTCH1(NM_017617.5):c.1407C>T (p.D469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804002" "0" "50" "9" "139418358" "139418358" "subst" "0" "01943" "NOTCH1_000434" "g.139418358C>T" "" "" "" "NOTCH1(NM_017617.5):c.214G>A (p.G72R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804003" "0" "30" "9" "139438522" "139438522" "subst" "1.02068E-5" "01943" "NOTCH1_000435" "g.139438522G>A" "" "" "" "NOTCH1(NM_017617.5):c.94C>T (p.L32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810847" "0" "50" "9" "139413985" "139413985" "subst" "2.03447E-5" "03779" "NOTCH1_000436" "g.139413985C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs763187824" "0" "" "" "" "" "VUS" "" "0000831704" "0" "70" "9" "139409046" "139409046" "subst" "0" "00006" "NOTCH1_000438" "g.139409046T>C" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "somatic mosacism" "Somatic" "" "" "0" "" "" "g.136514594T>C" "" "likely pathogenic" "" "0000831730" "11" "90" "9" "0" "0" "" "0" "00006" "NOTCH1_000437" "[NC_000007.13:g.(pter_43360)_(2067625-?)]delinsg.(?_129172353)_(141020389_qter)inv" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "unbalanced translocation, gain 11.8Mb hg19 chr9:129172353–141020389, loss 2Mb chr7:43360–2067625; balanced translocation in father" "Germline" "" "" "0" "" "46,XX,der(7)t(7;9)(p22.3;q33.3)" "" "" "pathogenic" "" "0000831783" "1" "50" "9" "139417413" "139417413" "subst" "0.000219817" "00006" "NOTCH1_000335" "g.139417413T>C" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.136522961T>C" "" "VUS" "" "0000831784" "1" "50" "9" "139410000" "139410000" "subst" "1.24236E-5" "00006" "NOTCH1_000308" "g.139410000C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.136515548C>T" "" "VUS" "" "0000831785" "11" "50" "9" "139405649" "139405649" "subst" "0.00277807" "00006" "NOTCH1_000295" "g.139405649C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.136511197C>T" "" "VUS" "" "0000831786" "1" "50" "9" "139405117" "139405117" "subst" "1.29443E-5" "00006" "NOTCH1_000106" "g.139405117C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.136510665C>T" "" "VUS (!)" "" "0000831787" "1" "50" "9" "139403492" "139403492" "subst" "0" "00006" "NOTCH1_000284" "g.139403492C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.136509040C>T" "" "VUS" "" "0000831788" "1" "50" "9" "139401769" "139401769" "subst" "2.45104E-5" "00006" "NOTCH1_000270" "g.139401769G>A" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.136507317G>A" "" "VUS" "" "0000831789" "1" "50" "9" "139400165" "139400165" "subst" "1.71237E-5" "00006" "NOTCH1_000253" "g.139400165T>C" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.136505713T>C" "" "VUS" "" "0000831790" "1" "50" "9" "139393401" "139393401" "subst" "6.49989E-5" "00006" "NOTCH1_000212" "g.139393401C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.136498949C>T" "" "VUS" "" "0000831791" "1" "50" "9" "139391267" "139391267" "subst" "4.08423E-6" "00006" "NOTCH1_000190" "g.139391267G>A" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.136496815G>A" "" "VUS" "" "0000832158" "0" "50" "9" "139401302" "139401302" "subst" "0.00148076" "00006" "NOTCH1_000439" "g.139401302G>A" "" "{PMID:Schubert 2016:26854089}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000852185" "0" "50" "9" "139396341" "139396341" "subst" "0" "01943" "NOTCH1_000441" "g.139396341C>G" "" "" "" "NOTCH1(NM_017617.5):c.5497G>C (p.D1833H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852186" "0" "50" "9" "139397646" "139397646" "subst" "4.08844E-6" "01943" "NOTCH1_000443" "g.139397646C>T" "" "" "" "NOTCH1(NM_017617.5):c.5155G>A (p.E1719K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852187" "0" "30" "9" "139400299" "139400299" "subst" "0.000609359" "02325" "NOTCH1_000071" "g.139400299C>A" "" "" "" "NOTCH1(NM_017617.3):c.4049G>T (p.(Arg1350Leu)), NOTCH1(NM_017617.5):c.4049G>T (p.R1350L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852188" "0" "50" "9" "139403395" "139403395" "subst" "0" "01943" "NOTCH1_000444" "g.139403395C>T" "" "" "" "NOTCH1(NM_017617.5):c.3098G>A (p.G1033D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852189" "0" "50" "9" "139413126" "139413126" "subst" "0" "01943" "NOTCH1_000446" "g.139413126C>T" "" "" "" "NOTCH1(NM_017617.5):c.1016G>A (p.C339Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852190" "0" "30" "9" "139414010" "139414010" "subst" "6.11093E-5" "02326" "NOTCH1_000447" "g.139414010G>A" "" "" "" "NOTCH1(NM_017617.5):c.750C>T (p.T250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852191" "0" "30" "9" "139438538" "139438538" "subst" "0" "01943" "NOTCH1_000448" "g.139438538C>T" "" "" "" "NOTCH1(NM_017617.5):c.78G>A (p.Q26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861571" "0" "50" "9" "139391832" "139391832" "subst" "8.3729E-6" "01943" "NOTCH1_000440" "g.139391832C>T" "" "" "" "NOTCH1(NM_017617.5):c.6359G>A (p.R2120H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861572" "0" "30" "9" "139396915" "139396915" "subst" "3.09428E-5" "01943" "NOTCH1_000442" "g.139396915C>T" "" "" "" "NOTCH1(NM_017617.5):c.5193G>A (p.P1731=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861573" "0" "10" "9" "139400219" "139400219" "subst" "0.0168987" "01943" "NOTCH1_000069" "g.139400219G>A" "" "" "" "NOTCH1(NM_017617.3):c.4129C>T (p.(Pro1377Ser)), NOTCH1(NM_017617.5):c.4129C>T (p.P1377S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861574" "0" "30" "9" "139404382" "139404382" "subst" "6.9176E-5" "01943" "NOTCH1_000289" "g.139404382G>A" "" "" "" "NOTCH1(NM_017617.5):c.2772C>T (p.D924=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861575" "0" "50" "9" "139409754" "139409754" "subst" "8.14903E-6" "01943" "NOTCH1_000445" "g.139409754G>C" "" "" "" "NOTCH1(NM_017617.3):c.2002C>G (p.(Pro668Ala)), NOTCH1(NM_017617.5):c.2002C>G (p.P668A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888737" "0" "50" "9" "139390617" "139390617" "subst" "0" "02327" "NOTCH1_000449" "g.139390617G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888738" "0" "90" "9" "139390741" "139390741" "dup" "0" "02325" "NOTCH1_000450" "g.139390741dup" "" "" "" "NOTCH1(NM_017617.5):c.7455dupC (p.S2486Lfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888739" "0" "70" "9" "139391206" "139391207" "del" "0" "02325" "NOTCH1_000451" "g.139391206_139391207del" "" "" "" "NOTCH1(NM_017617.5):c.6985_6986delAG (p.S2329Cfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888740" "0" "70" "9" "139395003" "139395003" "subst" "0" "02327" "NOTCH1_000452" "g.139395003C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888741" "0" "50" "9" "139396881" "139396881" "subst" "0" "02326" "NOTCH1_000453" "g.139396881C>T" "" "" "" "NOTCH1(NM_017617.5):c.5227G>A (p.A1743T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888742" "0" "30" "9" "139397683" "139397683" "subst" "1.22336E-5" "02326" "NOTCH1_000454" "g.139397683G>A" "" "" "" "NOTCH1(NM_017617.5):c.5118C>T (p.L1706=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888743" "0" "30" "9" "139400979" "139400979" "subst" "0.000154969" "02326" "NOTCH1_000073" "g.139400979C>T" "" "" "" "NOTCH1(NM_017617.5):c.4014G>A (p.A1338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888744" "0" "50" "9" "139403392" "139403392" "subst" "0" "02327" "NOTCH1_000455" "g.139403392C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888745" "0" "90" "9" "139404376" "139404380" "dup" "0" "02325" "NOTCH1_000456" "g.139404376_139404380dup" "" "" "" "NOTCH1(NM_017617.5):c.2774_2778dupGCATC (p.N927Afs*254)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888746" "0" "50" "9" "139407850" "139407850" "subst" "0" "02329" "NOTCH1_000457" "g.139407850A>G" "" "" "" "NOTCH1(NM_017617.5):c.2347T>C (p.F783L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888747" "0" "30" "9" "139409021" "139409021" "subst" "0.000107336" "02326" "NOTCH1_000458" "g.139409021C>T" "" "" "" "NOTCH1(NM_017617.5):c.2148G>A (p.E716=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888748" "0" "50" "9" "139410471" "139410471" "subst" "0" "02325" "NOTCH1_000459" "g.139410471A>G" "" "" "" "NOTCH1(NM_017617.5):c.1631T>C (p.L544P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888749" "0" "50" "9" "139412272" "139412272" "subst" "8.15421E-6" "02327" "NOTCH1_000460" "g.139412272G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888750" "0" "30" "9" "139413921" "139413921" "subst" "0.000107028" "02326" "NOTCH1_000423" "g.139413921T>C" "" "" "" "NOTCH1(NM_017617.5):c.839A>G (p.N280S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888751" "0" "50" "9" "139417320" "139417320" "subst" "0" "02327" "NOTCH1_000461" "g.139417320C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888752" "0" "30" "9" "139418425" "139418425" "subst" "0.000115312" "02326" "NOTCH1_000462" "g.139418425G>A" "" "" "" "NOTCH1(NM_017617.5):c.147C>T (p.G49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000909262" "0" "70" "9" "139410432" "139410432" "subst" "0" "03779" "NOTCH1_000463" "g.139410432C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000913126" "0" "50" "9" "139396538" "139396538" "subst" "1.22292E-5" "02329" "NOTCH1_000039" "g.139396538G>T" "" "" "" "NOTCH1(NM_017617.3):c.5387C>A (p.(Pro1796His)), NOTCH1(NM_017617.5):c.5387C>A (p.P1796H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913127" "0" "30" "9" "139399213" "139399213" "subst" "0.000311734" "02326" "NOTCH1_000053" "g.139399213G>A" "" "" "" "NOTCH1(NM_017617.5):c.4930C>T (p.L1644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913128" "0" "30" "9" "139407464" "139407464" "subst" "2.65347E-5" "02326" "NOTCH1_000464" "g.139407464A>C" "" "" "" "NOTCH1(NM_017617.5):c.2467+9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913129" "0" "90" "9" "139413893" "139413893" "subst" "0" "02325" "NOTCH1_000465" "g.139413893G>T" "" "" "" "NOTCH1(NM_017617.5):c.865+2C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000927710" "0" "90" "9" "139412303" "139412303" "subst" "0" "03779" "NOTCH1_000467" "g.139412303G>A" "" "" "" "" "" "Unknown" "" "rs869025494" "0" "" "" "" "" "pathogenic" "" "0000929570" "0" "50" "9" "139391820" "139391820" "subst" "0" "02325" "NOTCH1_000468" "g.139391820A>G" "" "" "" "NOTCH1(NM_017617.5):c.6371T>C (p.L2124P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929571" "0" "90" "9" "139440203" "139440203" "dup" "0" "02326" "NOTCH1_000469" "g.139440203dup" "" "" "" "NOTCH1(NM_017617.5):c.36dupG (p.L13Afs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949249" "0" "50" "9" "139390728" "139390728" "subst" "0" "02327" "NOTCH1_000470" "g.139390728T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949250" "0" "30" "9" "139400321" "139400321" "subst" "7.17449E-5" "02326" "NOTCH1_000471" "g.139400321C>T" "" "" "" "NOTCH1(NM_017617.5):c.4027G>A (p.A1343T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949251" "0" "50" "9" "139404399" "139404399" "subst" "4.07468E-6" "02326" "NOTCH1_000472" "g.139404399C>T" "" "" "" "NOTCH1(NM_017617.5):c.2755G>A (p.G919R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949252" "0" "30" "9" "139409151" "139409151" "subst" "0" "01804" "NOTCH1_000473" "g.139409151C>A" "" "" "" "NOTCH1(NM_017617.3):c.2018G>T (p.(Ser673Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965302" "0" "30" "9" "139391076" "139391076" "subst" "0.000114152" "02327" "NOTCH1_000409" "g.139391076C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965304" "0" "50" "9" "139397775" "139397775" "subst" "0" "02325" "NOTCH1_000474" "g.139397775C>T" "" "" "" "NOTCH1(NM_017617.5):c.5026G>A (p.V1676I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965305" "0" "50" "9" "139400096" "139400096" "subst" "0" "02327" "NOTCH1_000475" "g.139400096C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965306" "0" "50" "9" "139401234" "139401234" "subst" "0.000352627" "02325" "NOTCH1_000265" "g.139401234G>A" "" "" "" "NOTCH1(NM_017617.3):c.3835C>T (p.(Arg1279Cys)), NOTCH1(NM_017617.5):c.3835C>T (p.R1279C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965308" "0" "50" "9" "139403389" "139403389" "subst" "0" "02325" "NOTCH1_000476" "g.139403389G>A" "" "" "" "NOTCH1(NM_017617.5):c.3104C>T (p.T1035I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965309" "0" "50" "9" "139405153" "139405153" "subst" "1.25504E-5" "02325" "NOTCH1_000477" "g.139405153C>T" "" "" "" "NOTCH1(NM_017617.5):c.2692G>A (p.G898S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965310" "0" "50" "9" "139405215" "139405215" "subst" "1.66219E-5" "02327" "NOTCH1_000478" "g.139405215G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965312" "0" "30" "9" "139410051" "139410051" "subst" "0.000142615" "02326" "NOTCH1_000479" "g.139410051G>A" "" "" "" "NOTCH1(NM_017617.5):c.1787C>T (p.T596M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965313" "0" "30" "9" "139412256" "139412256" "subst" "0.000513849" "02329" "NOTCH1_000154" "g.139412256G>A" "" "" "" "NOTCH1(NM_017617.5):c.1389C>T (p.N463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978547" "0" "30" "9" "139390585" "139390585" "subst" "0.000351085" "01804" "NOTCH1_000003" "g.139390585C>T" "" "" "" "NOTCH1(NM_017617.3):c.7606G>A (p.(Val2536Ile)), NOTCH1(NM_017617.5):c.7606G>A (p.V2536I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978548" "0" "30" "9" "139390956" "139390956" "subst" "0" "01804" "NOTCH1_000480" "g.139390956G>A" "" "" "" "NOTCH1(NM_017617.5):c.7235C>T (p.(Pro2412Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978549" "0" "30" "9" "139391200" "139391200" "subst" "0.00134004" "01804" "NOTCH1_000188" "g.139391200C>T" "" "" "" "NOTCH1(NM_017617.5):c.6991G>A (p.A2331T, p.(Ala2331Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978550" "0" "30" "9" "139391211" "139391211" "subst" "0.000208371" "02329" "NOTCH1_000189" "g.139391211C>T" "" "" "" "NOTCH1(NM_017617.5):c.6980G>A (p.R2327Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978551" "0" "30" "9" "139391906" "139391906" "subst" "4.15193E-6" "01804" "NOTCH1_000205" "g.139391906G>A" "" "" "" "NOTCH1(NM_017617.5):c.6285C>T (p.(Arg2095=), p.R2095=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978552" "0" "50" "9" "139393656" "139393656" "subst" "8.14405E-6" "01804" "NOTCH1_000481" "g.139393656G>A" "" "" "" "NOTCH1(NM_017617.5):c.5990C>T (p.(Thr1997Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978553" "0" "30" "9" "139396933" "139396933" "subst" "0.0024899" "01804" "NOTCH1_000045" "g.139396933G>A" "" "" "" "NOTCH1(NM_017617.5):c.5175C>T (p.T1725=, p.(Thr1725=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978554" "0" "30" "9" "139399226" "139399226" "subst" "0.000506873" "01804" "NOTCH1_000236" "g.139399226G>A" "" "" "" "NOTCH1(NM_017617.5):c.4917C>T (p.A1639=, p.(Ala1639Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978555" "0" "90" "9" "139399283" "139399283" "subst" "0" "02329" "NOTCH1_000482" "g.139399283G>C" "" "" "" "NOTCH1(NM_017617.5):c.4860C>G (p.Y1620*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978556" "0" "30" "9" "139399566" "139399566" "dup" "0" "01804" "NOTCH1_000483" "g.139399566dup" "" "" "" "NOTCH1(NM_017617.5):c.4587-5dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978557" "0" "30" "9" "139399974" "139399974" "subst" "1.22874E-5" "02329" "NOTCH1_000484" "g.139399974C>G" "" "" "" "NOTCH1(NM_017617.5):c.4374G>C (p.A1458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978558" "0" "30" "9" "139400034" "139400034" "subst" "3.34462E-5" "02329" "NOTCH1_000485" "g.139400034G>A" "" "" "" "NOTCH1(NM_017617.5):c.4314C>T (p.R1438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978559" "0" "50" "9" "139400218" "139400218" "subst" "0" "01804" "NOTCH1_000068" "g.139400218G>A" "" "" "" "NOTCH1(NM_017617.5):c.4130C>T (p.(Pro1377Leu), p.P1377L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978560" "0" "30" "9" "139400292" "139400292" "subst" "0.000293094" "01804" "NOTCH1_000486" "g.139400292G>A" "" "" "" "NOTCH1(NM_017617.5):c.4056C>T (p.(Cys1352=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978561" "0" "50" "9" "139401216" "139401216" "subst" "5.56283E-5" "01804" "NOTCH1_000264" "g.139401216C>T" "" "" "" "NOTCH1(NM_017617.5):c.3853G>A (p.(Val1285Met), p.V1285M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978562" "0" "50" "9" "139401281" "139401281" "subst" "2.88774E-5" "01804" "NOTCH1_000487" "g.139401281C>T" "" "" "" "NOTCH1(NM_017617.5):c.3788G>A (p.(Arg1263His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978563" "0" "30" "9" "139401899" "139401899" "subst" "0.00339779" "01804" "NOTCH1_000084" "g.139401899C>T" "" "" "" "NOTCH1(NM_017617.5):c.3511-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978564" "0" "30" "9" "139402715" "139402715" "subst" "0.00287957" "01804" "NOTCH1_000091" "g.139402715G>A" "" "" "" "NOTCH1(NM_017617.5):c.3294C>T (p.S1098=, p.(Ser1098=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978565" "0" "50" "9" "139402738" "139402738" "subst" "5.7093E-5" "01804" "NOTCH1_000273" "g.139402738C>T" "" "" "" "NOTCH1(NM_017617.5):c.3271G>A (p.(Gly1091Ser), p.G1091S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978566" "0" "50" "9" "139405171" "139405171" "subst" "0.00011076" "02326" "NOTCH1_000488" "g.139405171G>A" "" "" "" "NOTCH1(NM_017617.5):c.2674C>T (p.R892C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978567" "0" "50" "9" "139405619" "139405619" "subst" "0" "01804" "NOTCH1_000489" "g.139405619G>C" "" "" "" "NOTCH1(NM_017617.3):c.2572C>G (p.(Pro858Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978568" "0" "30" "9" "139408952" "139408952" "subst" "0.00340413" "01804" "NOTCH1_000121" "g.139408952C>T" "" "" "" "NOTCH1(NM_017617.5):c.2207+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978569" "0" "30" "9" "139410037" "139410037" "subst" "5.41635E-5" "01804" "NOTCH1_000309" "g.139410037C>T" "" "" "" "NOTCH1(NM_017617.5):c.1801G>A (p.(Glu601Lys), p.E601K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978570" "0" "30" "9" "139410437" "139410437" "subst" "0.0109717" "01804" "NOTCH1_000142" "g.139410437C>T" "" "" "" "NOTCH1(NM_017617.5):c.1665G>A (p.T555=, p.(Thr555=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978571" "0" "30" "9" "139412350" "139412350" "subst" "0.000196123" "01804" "NOTCH1_000156" "g.139412350G>A" "" "" "" "NOTCH1(NM_017617.5):c.1295C>T (p.T432M, p.(Thr432Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978572" "0" "30" "9" "139417163" "139417163" "subst" "0" "02329" "NOTCH1_000490" "g.139417163G>A" "" "" "" "NOTCH1(NM_017617.5):c.742+139C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978573" "0" "50" "9" "139418259" "139418259" "subst" "0" "01804" "NOTCH1_000491" "g.139418259C>T" "" "" "" "NOTCH1(NM_017617.5):c.313G>A (p.(Ala105Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978574" "0" "50" "9" "139440214" "139440214" "del" "0" "01804" "NOTCH1_000492" "g.139440214del" "" "" "" "NOTCH1(NM_017617.5):c.25del (p.(Leu9SerfsTer24))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987853" "0" "70" "9" "139405689" "139405690" "ins" "0" "03544" "NOTCH1_000493" "g.139405689_139405690insA" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.136511237_136511238insA" "{CV:3374702}" "likely pathogenic" "ACMG" "0000997663" "0" "50" "9" "139390559" "139390559" "subst" "3.3955E-5" "01804" "NOTCH1_000494" "g.139390559C>G" "" "" "" "NOTCH1(NM_017617.3):c.7632G>C (p.(Gln2544His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997664" "0" "30" "9" "139390828" "139390828" "subst" "1.38106E-5" "01804" "NOTCH1_000185" "g.139390828T>C" "" "" "" "NOTCH1(NM_017617.3):c.7363A>G (p.(Thr2455Ala)), NOTCH1(NM_017617.5):c.7363A>G (p.T2455A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997665" "0" "30" "9" "139391355" "139391355" "subst" "0.000139428" "02326" "NOTCH1_000495" "g.139391355G>A" "" "" "" "NOTCH1(NM_017617.5):c.6836C>T (p.A2279V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997666" "0" "50" "9" "139391932" "139391932" "subst" "2.90271E-5" "01804" "NOTCH1_000496" "g.139391932G>A" "" "" "" "NOTCH1(NM_017617.3):c.6259C>T (p.(Arg2087Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997667" "0" "50" "9" "139391998" "139391998" "subst" "0" "01804" "NOTCH1_000497" "g.139391998G>C" "" "" "" "NOTCH1(NM_017617.3):c.6193C>G (p.(Leu2065Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997668" "0" "30" "9" "139396224" "139396224" "subst" "0" "01804" "NOTCH1_000498" "g.139396224T>C" "" "" "" "NOTCH1(NM_017617.3):c.5614A>G (p.(Met1872Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997669" "0" "30" "9" "139396503" "139396503" "subst" "4.47544E-5" "01804" "NOTCH1_000499" "g.139396503C>T" "" "" "" "NOTCH1(NM_017617.3):c.5422G>A (p.(Asp1808Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997670" "0" "30" "9" "139396776" "139396776" "subst" "0" "01804" "NOTCH1_000500" "g.139396776C>G" "" "" "" "NOTCH1(NM_017617.3):c.5332G>C (p.(Ala1778Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997671" "0" "30" "9" "139399132" "139399132" "subst" "0.0024396" "01804" "NOTCH1_000051" "g.139399132C>T" "" "" "" "NOTCH1(NM_017617.3):c.5011G>A (p.(Val1671Ile)), NOTCH1(NM_017617.5):c.5011G>A (p.V1671I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997672" "0" "30" "9" "139399752" "139399752" "subst" "0.000153875" "02326" "NOTCH1_000246" "g.139399752G>A" "" "" "" "NOTCH1(NM_017617.5):c.4586+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997673" "0" "50" "9" "139400180" "139400180" "subst" "0.000602641" "01804" "NOTCH1_000067" "g.139400180G>T" "" "" "" "NOTCH1(NM_017617.3):c.4168C>A (p.(Pro1390Thr)), NOTCH1(NM_017617.5):c.4168C>A (p.P1390T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997674" "0" "30" "9" "139400320" "139400320" "subst" "0.00168771" "02326" "NOTCH1_000072" "g.139400320G>A" "" "" "" "NOTCH1(NM_017617.3):c.4028C>T (p.(Ala1343Val)), NOTCH1(NM_017617.5):c.4028C>T (p.A1343V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997675" "0" "30" "9" "139401023" "139401023" "subst" "0.000149953" "01804" "NOTCH1_000378" "g.139401023C>T" "" "" "" "NOTCH1(NM_017617.3):c.3970G>A (p.(Val1324Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997676" "0" "50" "9" "139401363" "139401363" "subst" "2.07648E-5" "01804" "NOTCH1_000081" "g.139401363G>A" "" "" "" "NOTCH1(NM_017617.3):c.3706C>T (p.(Pro1236Ser)), NOTCH1(NM_017617.5):c.3706C>T (p.P1236S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997677" "0" "50" "9" "139401390" "139401390" "subst" "7.12567E-5" "01804" "NOTCH1_000501" "g.139401390G>A" "" "" "" "NOTCH1(NM_017617.3):c.3679C>T (p.(Pro1227Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997678" "0" "50" "9" "139402448" "139402448" "subst" "8.15568E-6" "01804" "NOTCH1_000502" "g.139402448C>T" "" "" "" "NOTCH1(NM_017617.3):c.3469G>A (p.(Gly1157Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997679" "0" "70" "9" "139402455" "139402455" "subst" "0" "01804" "NOTCH1_000503" "g.139402455G>T" "" "" "" "NOTCH1(NM_017617.3):c.3462C>A (p.(Cys1154*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997680" "0" "50" "9" "139402748" "139402748" "subst" "4.07521E-6" "01804" "NOTCH1_000093" "g.139402748G>T" "" "" "" "NOTCH1(NM_017617.3):c.3261C>A (p.(Ser1087Arg)), NOTCH1(NM_017617.5):c.3261C>A (p.S1087R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997681" "0" "30" "9" "139402764" "139402764" "subst" "1.22217E-5" "01804" "NOTCH1_000504" "g.139402764C>A" "" "" "" "NOTCH1(NM_017617.3):c.3245G>T (p.(Arg1082Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997682" "0" "50" "9" "139402798" "139402798" "subst" "4.06775E-6" "02329" "NOTCH1_000095" "g.139402798C>T" "" "" "" "NOTCH1(NM_017617.5):c.3211G>A (p.G1071S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997683" "0" "50" "9" "139403510" "139403510" "subst" "0" "01804" "NOTCH1_000405" "g.139403510C>T" "" "" "" "NOTCH1(NM_017617.3):c.2983G>A (p.(Gly995Ser)), NOTCH1(NM_017617.5):c.2983G>A (p.G995S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997684" "0" "50" "9" "139405111" "139405111" "subst" "0.00171278" "01804" "NOTCH1_000105" "g.139405111G>A" "" "" "" "NOTCH1(NM_017617.3):c.2734C>T (p.(Arg912Trp)), NOTCH1(NM_017617.5):c.2734C>T (p.R912W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997685" "0" "50" "9" "139405642" "139405642" "subst" "4.08133E-6" "01804" "NOTCH1_000505" "g.139405642T>C" "" "" "" "NOTCH1(NM_017617.3):c.2549A>G (p.(Tyr850Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997686" "0" "50" "9" "139409754" "139409754" "subst" "8.14903E-6" "01804" "NOTCH1_000445" "g.139409754G>C" "" "" "" "NOTCH1(NM_017617.3):c.2002C>G (p.(Pro668Ala)), NOTCH1(NM_017617.5):c.2002C>G (p.P668A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997687" "0" "50" "9" "139410000" "139410000" "subst" "1.24236E-5" "02327" "NOTCH1_000308" "g.139410000C>T" "" "" "" "NOTCH1(NM_017617.5):c.1838G>A (p.R613H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997688" "0" "50" "9" "139410064" "139410064" "subst" "1.27466E-5" "02325" "NOTCH1_000135" "g.139410064G>A" "" "" "" "NOTCH1(NM_017617.5):c.1774C>T (p.R592C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997689" "0" "30" "9" "139410162" "139410162" "subst" "0" "01804" "NOTCH1_000506" "g.139410162G>A" "" "" "" "NOTCH1(NM_017617.3):c.1676C>T (p.(Thr559Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997690" "0" "90" "9" "139410452" "139410452" "subst" "0" "02329" "NOTCH1_000507" "g.139410452G>C" "" "" "" "NOTCH1(NM_017617.5):c.1650C>G (p.Y550*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997691" "0" "50" "9" "139412639" "139412639" "subst" "0" "01804" "NOTCH1_000326" "g.139412639G>A" "" "" "" "NOTCH1(NM_017617.3):c.1205C>T (p.(Ser402Leu)), NOTCH1(NM_017617.5):c.1205C>T (p.S402L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997692" "0" "50" "9" "139413937" "139413937" "subst" "3.66405E-5" "01804" "NOTCH1_000508" "g.139413937C>T" "" "" "" "NOTCH1(NM_017617.3):c.823G>A (p.(Gly275Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997693" "0" "50" "9" "139417337" "139417337" "subst" "0" "01804" "NOTCH1_000509" "g.139417337G>A" "" "" "" "NOTCH1(NM_017617.3):c.707C>T (p.(Thr236Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997694" "0" "50" "9" "139417526" "139417526" "subst" "0" "01804" "NOTCH1_000510" "g.139417526G>A" "" "" "" "NOTCH1(NM_017617.3):c.518C>T (p.(Pro173Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007444" "0" "70" "9" "139399771" "139399771" "subst" "0" "00006" "NOTCH1_000511" "g.139399771C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_017617.5:c.4577C>T" "" "Germline" "" "" "0" "" "" "g.136505319C>T" "" "VUS" "" "0001007530" "0" "70" "9" "139404348" "139404348" "subst" "1.62685E-5" "00006" "NOTCH1_000512" "g.139404348C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_017617.5:c.2806C>T" "" "Germline" "" "rs773847667" "0" "" "" "g.136509896C>T" "" "VUS" "" "0001014520" "0" "10" "9" "139393658" "139393658" "subst" "0.00254514" "02326" "NOTCH1_000027" "g.139393658C>T" "" "" "" "NOTCH1(NM_017617.5):c.5988G>A (p.T1996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014521" "0" "30" "9" "139402715" "139402715" "subst" "0.00287957" "02326" "NOTCH1_000091" "g.139402715G>A" "" "" "" "NOTCH1(NM_017617.5):c.3294C>T (p.S1098=, p.(Ser1098=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001022079" "0" "90" "9" "139438473" "139438473" "subst" "0" "04796" "NOTCH1_000344" "g.139438473C>G" "" "" "" "" "effect on RNA exon skipping" "Germline/De novo (untested)" "" "" "0" "" "" "g.136544021C>G" "" "pathogenic" "" "0001022104" "0" "50" "9" "139395037" "139395037" "subst" "4.10748E-5" "04796" "NOTCH1_000355" "g.139395037C>T" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.136500585C>T" "" "VUS" "" "0001025640" "0" "50" "9" "139400317" "139400317" "subst" "0.000449918" "02325" "NOTCH1_000257" "g.139400317G>A" "" "" "" "NOTCH1(NM_017617.3):c.4031C>T (p.(Thr1344Met)), NOTCH1(NM_017617.5):c.4031C>T (p.T1344M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025641" "0" "50" "9" "139405649" "139405649" "subst" "0.00277807" "01943" "NOTCH1_000295" "g.139405649C>T" "" "" "" "NOTCH1(NM_017617.3):c.2542G>A (p.(Glu848Lys)), NOTCH1(NM_017617.5):c.2542G>A (p.E848K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025642" "0" "10" "9" "139409120" "139409120" "subst" "0.000990393" "02326" "NOTCH1_000127" "g.139409120C>T" "" "" "" "NOTCH1(NM_017617.5):c.2049G>A (p.A683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025643" "0" "30" "9" "139413877" "139413877" "subst" "0.000281759" "02326" "NOTCH1_000162" "g.139413877G>A" "" "" "" "NOTCH1(NM_017617.5):c.865+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001029694" "0" "30" "9" "139400299" "139400299" "subst" "0.000609359" "03779" "NOTCH1_000071" "g.139400299C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs150343794" "0" "" "" "" "" "likely benign" "" "0001030918" "0" "50" "9" "139396343" "139396343" "subst" "4.08664E-6" "03779" "NOTCH1_000513" "g.139396343G>C" "" "" "" "" "" "Unknown" "" "rs1425070721" "0" "" "" "" "" "VUS" "" "0001030919" "0" "50" "9" "139405117" "139405117" "subst" "1.29443E-5" "03779" "NOTCH1_000106" "g.139405117C>T" "" "" "" "" "" "Unknown" "" "rs765293859" "0" "" "" "" "" "VUS" "" "0001037318" "0" "30" "9" "139385878" "139385878" "subst" "0" "01804" "NOTCH1_000514" "g.139385878C>T" "" "" "" "NOTCH1(NM_017617.5):c.*4645G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037319" "0" "30" "9" "139390940" "139390940" "subst" "0.000110972" "01804" "NOTCH1_000007" "g.139390940C>T" "" "" "" "NOTCH1(NM_017617.5):c.7251G>A (p.P2417=, p.(Pro2417=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037320" "0" "50" "9" "139391113" "139391113" "subst" "0" "01804" "NOTCH1_000515" "g.139391113A>G" "" "" "" "NOTCH1(NM_017617.5):c.7078T>C (p.(Ser2360Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037321" "0" "10" "9" "139391321" "139391321" "subst" "0.00260798" "01804" "NOTCH1_000012" "g.139391321G>A" "" "" "" "NOTCH1(NM_017617.5):c.6870C>T (p.S2290=, p.(Ser2290=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037322" "0" "30" "9" "139391769" "139391769" "subst" "1.68095E-5" "01804" "NOTCH1_000201" "g.139391769G>A" "" "" "" "NOTCH1(NM_017617.5):c.6422C>T (p.(Ser2141Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037323" "0" "30" "9" "139393344" "139393344" "subst" "4.0659E-6" "01804" "NOTCH1_000516" "g.139393344C>T" "" "" "" "NOTCH1(NM_017617.5):c.6180+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037324" "0" "50" "9" "139395128" "139395128" "subst" "0" "01804" "NOTCH1_000517" "g.139395128C>A" "" "" "" "NOTCH1(NM_017617.5):c.5810G>T (p.(Arg1937Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037325" "0" "50" "9" "139396511" "139396511" "subst" "4.47584E-5" "01804" "NOTCH1_000223" "g.139396511A>G" "" "" "" "NOTCH1(NM_017617.5):c.5414T>C (p.(Leu1805Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037326" "0" "50" "9" "139396893" "139396893" "subst" "6.27043E-5" "01804" "NOTCH1_000392" "g.139396893C>T" "" "" "" "NOTCH1(NM_017617.5):c.5215G>A (p.(Val1739Met), p.V1739M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037327" "0" "10" "9" "139397794" "139397797" "del" "0" "01804" "NOTCH1_000050" "g.139397794_139397797del" "" "" "" "NOTCH1(NM_017617.5):c.5019-13_5019-10del, NOTCH1(NM_017617.5):c.5019-13_5019-10delATTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037328" "0" "10" "9" "139399256" "139399256" "subst" "0.00166822" "02326" "NOTCH1_000054" "g.139399256G>A" "" "" "" "NOTCH1(NM_017617.5):c.4887C>T (p.H1629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037329" "0" "50" "9" "139399504" "139399504" "subst" "4.19147E-6" "01804" "NOTCH1_000430" "g.139399504G>C" "" "" "" "NOTCH1(NM_017617.5):c.4639C>G (p.Q1547E, p.(Gln1547Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037330" "0" "50" "9" "139399922" "139399922" "subst" "2.04147E-5" "01804" "NOTCH1_000518" "g.139399922C>T" "" "" "" "NOTCH1(NM_017617.5):c.4426G>A (p.(Gly1476Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037331" "0" "30" "9" "139400299" "139400299" "subst" "0.000609359" "02326" "NOTCH1_000071" "g.139400299C>A" "" "" "" "NOTCH1(NM_017617.3):c.4049G>T (p.(Arg1350Leu)), NOTCH1(NM_017617.5):c.4049G>T (p.R1350L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037332" "0" "50" "9" "139401040" "139401040" "subst" "0" "01804" "NOTCH1_000519" "g.139401040T>C" "" "" "" "NOTCH1(NM_017617.5):c.3953A>G (p.(Asn1318Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037333" "0" "30" "9" "139401262" "139401262" "subst" "1.64895E-5" "01804" "NOTCH1_000520" "g.139401262G>A" "" "" "" "NOTCH1(NM_017617.5):c.3807C>T (p.(Asn1269=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037334" "0" "30" "9" "139401361" "139401361" "subst" "0" "01804" "NOTCH1_000521" "g.139401361G>A" "" "" "" "NOTCH1(NM_017617.5):c.3708C>T (p.(Pro1236=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037335" "0" "50" "9" "139401399" "139401399" "subst" "8.47997E-6" "01804" "NOTCH1_000522" "g.139401399C>T" "" "" "" "NOTCH1(NM_017617.5):c.3670G>A (p.(Asp1224Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037336" "0" "30" "9" "139401429" "139401429" "subst" "0.000243418" "01804" "NOTCH1_000082" "g.139401429C>T" "" "" "" "NOTCH1(NM_017617.5):c.3644-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037337" "0" "30" "9" "139401848" "139401848" "subst" "1.25156E-5" "01804" "NOTCH1_000523" "g.139401848G>A" "" "" "" "NOTCH1(NM_017617.5):c.3552C>T (p.(Ile1184=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037338" "0" "50" "9" "139402545" "139402545" "subst" "4.1308E-6" "01804" "NOTCH1_000524" "g.139402545G>C" "" "" "" "NOTCH1(NM_017617.5):c.3372C>G (p.(Asp1124Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037339" "0" "50" "9" "139402819" "139402819" "subst" "5.70121E-5" "01804" "NOTCH1_000525" "g.139402819C>T" "" "" "" "NOTCH1(NM_017617.5):c.3190G>A (p.(Asp1064Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037340" "0" "30" "9" "139403313" "139403313" "subst" "0.000119722" "01804" "NOTCH1_000526" "g.139403313C>T" "" "" "" "NOTCH1(NM_017617.5):c.3171+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037341" "0" "30" "9" "139403378" "139403378" "subst" "0.000844878" "01804" "NOTCH1_000096" "g.139403378C>T" "" "" "" "NOTCH1(NM_017617.5):c.3115G>A (p.G1039S, p.(Gly1039Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037342" "0" "50" "9" "139404237" "139404237" "subst" "2.03442E-5" "01804" "NOTCH1_000527" "g.139404237C>T" "" "" "" "NOTCH1(NM_017617.5):c.2917G>A (p.(Ala973Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037343" "0" "50" "9" "139404285" "139404285" "subst" "8.13464E-6" "01804" "NOTCH1_000528" "g.139404285C>T" "" "" "" "NOTCH1(NM_017617.5):c.2869G>A (p.(Gly957Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037344" "0" "50" "9" "139404321" "139404321" "subst" "0" "01804" "NOTCH1_000529" "g.139404321C>A" "" "" "" "NOTCH1(NM_017617.5):c.2833G>T (p.(Asp945Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037345" "0" "30" "9" "139404341" "139404341" "subst" "0.000447424" "01804" "NOTCH1_000100" "g.139404341C>T" "" "" "" "NOTCH1(NM_017617.5):c.2813G>A (p.(Arg938Gln), p.R938Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037346" "0" "30" "9" "139405154" "139405154" "subst" "0.0121155" "01804" "NOTCH1_000108" "g.139405154G>A" "" "" "" "NOTCH1(NM_017617.5):c.2691C>T (p.A897=, p.(Ala897=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037347" "0" "30" "9" "139405181" "139405181" "subst" "0.0124042" "01804" "NOTCH1_000109" "g.139405181G>A" "" "" "" "NOTCH1(NM_017617.5):c.2664C>T (p.H888=, p.(His888=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037348" "0" "30" "9" "139405662" "139405662" "subst" "4.14274E-6" "01804" "NOTCH1_000530" "g.139405662C>T" "" "" "" "NOTCH1(NM_017617.5):c.2529G>A (p.(Glu843=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037349" "0" "30" "9" "139407591" "139407591" "subst" "8.95999E-5" "02325" "NOTCH1_000116" "g.139407591A>G" "" "" "" "NOTCH1(NM_017617.5):c.2354-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037350" "0" "50" "9" "139407932" "139407934" "del" "0.000215877" "01804" "NOTCH1_000397" "g.139407932_139407934del" "" "" "" "NOTCH1(NM_017617.5):c.2263_2265del (p.(Asn755del)), NOTCH1(NM_017617.5):c.2263_2265delAAT (p.N755del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037351" "0" "30" "9" "139409753" "139409753" "subst" "4.07511E-5" "01804" "NOTCH1_000304" "g.139409753G>A" "" "" "" "NOTCH1(NM_017617.5):c.2003C>T (p.(Pro668Leu), p.P668L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037352" "0" "30" "9" "139409970" "139409970" "subst" "3.29305E-5" "01804" "NOTCH1_000531" "g.139409970T>C" "" "" "" "NOTCH1(NM_017617.5):c.1868A>G (p.(Asn623Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037353" "0" "30" "9" "139412395" "139412395" "subst" "8.32293E-6" "01804" "NOTCH1_000532" "g.139412395G>A" "" "" "" "NOTCH1(NM_017617.5):c.1256-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037354" "0" "50" "9" "139417320" "139417320" "subst" "0" "01804" "NOTCH1_000533" "g.139417320C>G" "" "" "" "NOTCH1(NM_017617.5):c.724G>C (p.(Glu242Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046189" "0" "50" "9" "139391869" "139391869" "subst" "8.29779E-6" "02325" "NOTCH1_000534" "g.139391869C>T" "" "" "" "NOTCH1(NM_017617.5):c.6322G>A (p.D2108N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes NOTCH1 ## Count = 815 "{{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}}" "0000096958" "00014698" "50" "7645" "0" "7645" "0" "c.7645C>T" "r.(?)" "p.(Arg2549Cys)" "34" "0000169448" "00014698" "00" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Glu216Lys)" "" "0000246779" "00014698" "10" "2265" "0" "2265" "0" "c.2265T>C" "r.(?)" "p.(Asn755=)" "" "0000246780" "00014698" "10" "1669" "9" "1669" "9" "c.1669+9T>C" "r.(=)" "p.(=)" "" "0000246789" "00014698" "10" "312" "0" "312" "0" "c.312T>C" "r.(?)" "p.(Asn104=)" "" "0000247903" "00014698" "30" "2265" "0" "2265" "0" "c.2265T>C" "r.(?)" "p.(Asn755=)" "" "0000248335" "00014698" "30" "312" "0" "312" "0" "c.312T>C" "r.(?)" "p.(Asn104=)" "" "0000249881" "00014698" "10" "2265" "0" "2265" "0" "c.2265T>C" "r.(?)" "p.(Asn755=)" "" "0000249894" "00014698" "10" "1669" "9" "1669" "9" "c.1669+9T>C" "r.(=)" "p.(=)" "" "0000250070" "00014698" "10" "312" "0" "312" "0" "c.312T>C" "r.(?)" "p.(Asn104=)" "" "0000250109" "00014698" "10" "6777" "0" "6777" "0" "c.6777T>C" "r.(?)" "p.(Gly2259=)" "" "0000253105" "00014698" "10" "2265" "0" "2265" "0" "c.2265T>C" "r.(?)" "p.(Asn755=)" "" "0000253118" "00014698" "10" "1669" "9" "1669" "9" "c.1669+9T>C" "r.(=)" "p.(=)" "" "0000253656" "00014698" "10" "7515" "0" "7515" "0" "c.7515T>G" "r.(?)" "p.(Pro2505=)" "" "0000255257" "00014698" "30" "2354" "-5" "2354" "-5" "c.2354-5T>C" "r.spl?" "p.?" "" "0000255522" "00014698" "90" "6881" "0" "6881" "0" "c.6881del" "r.(?)" "p.(Leu2294ArgfsTer11)" "" "0000256002" "00014698" "50" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Ile1440Thr)" "" "0000256686" "00014698" "50" "253" "0" "253" "0" "c.253T>C" "r.(?)" "p.(Tyr85His)" "" "0000293138" "00014698" "10" "1441" "7" "1441" "7" "c.1441+7C>T" "r.(=)" "p.(=)" "" "0000293139" "00014698" "10" "1555" "10" "1555" "10" "c.1555+10A>G" "r.(=)" "p.(=)" "" "0000293140" "00014698" "10" "1635" "0" "1635" "0" "c.1635C>T" "r.(?)" "p.(Asp545=)" "" "0000293141" "00014698" "10" "1670" "-9" "1670" "-9" "c.1670-9A>G" "r.(=)" "p.(=)" "" "0000293143" "00014698" "10" "186" "0" "186" "0" "c.186G>C" "r.(?)" "p.(Pro62=)" "" "0000293144" "00014698" "10" "2588" "-4" "2588" "-4" "c.2588-4G>A" "r.spl?" "p.?" "" "0000293145" "00014698" "10" "2740" "12" "2740" "12" "c.2740+12C>T" "r.(=)" "p.(=)" "" "0000293147" "00014698" "10" "5094" "0" "5094" "0" "c.5094C>T" "r.(?)" "p.(Asp1698=)" "" "0000293148" "00014698" "10" "5175" "0" "5175" "0" "c.5175C>T" "r.(?)" "p.(Thr1725=)" "" "0000293149" "00014698" "10" "5639" "-12" "5639" "-12" "c.5639-12C>T" "r.(=)" "p.(=)" "" "0000293150" "00014698" "10" "852" "0" "852" "0" "c.852G>A" "r.(?)" "p.(Pro284=)" "" "0000296519" "00014698" "10" "1441" "7" "1441" "7" "c.1441+7C>T" "r.(=)" "p.(=)" "" "0000296520" "00014698" "50" "1441" "0" "1441" "0" "c.1441G>A" "r.(?)" "p.(Gly481Ser)" "" "0000296521" "00014698" "30" "1510" "0" "1510" "0" "c.1510C>T" "r.(?)" "p.(Arg504Cys)" "" "0000296522" "00014698" "30" "1555" "10" "1555" "10" "c.1555+10A>G" "r.(=)" "p.(=)" "" "0000296523" "00014698" "90" "1670" "-7" "1670" "-7" "c.1670-7G>A" "r.(=)" "p.(=)" "" "0000296524" "00014698" "10" "1670" "-9" "1670" "-9" "c.1670-9A>G" "r.(=)" "p.(=)" "" "0000296525" "00014698" "10" "2588" "-4" "2588" "-4" "c.2588-4G>A" "r.spl?" "p.?" "" "0000296526" "00014698" "30" "2734" "0" "2734" "0" "c.2734C>T" "r.(?)" "p.(Arg912Trp)" "" "0000296527" "00014698" "30" "3294" "0" "3294" "0" "c.3294C>T" "r.(?)" "p.(Ser1098=)" "" "0000296528" "00014698" "50" "3706" "0" "3706" "0" "c.3706C>T" "r.(?)" "p.(Pro1236Ser)" "" "0000296529" "00014698" "30" "5094" "0" "5094" "0" "c.5094C>T" "r.(?)" "p.(Asp1698=)" "" "0000296530" "00014698" "50" "6229" "0" "6229" "0" "c.6229G>A" "r.(?)" "p.(Ala2077Thr)" "" "0000296531" "00014698" "30" "6685" "0" "6685" "0" "c.6685G>A" "r.(?)" "p.(Val2229Met)" "" "0000296532" "00014698" "10" "852" "0" "852" "0" "c.852G>A" "r.(?)" "p.(Pro284=)" "" "0000298580" "00014698" "50" "1045" "0" "1045" "0" "c.1045A>C" "r.(?)" "p.(Thr349Pro)" "" "0000298581" "00014698" "30" "1266" "0" "1266" "0" "c.1266C>A" "r.(?)" "p.(Pro422=)" "" "0000298582" "00014698" "30" "1407" "0" "1407" "0" "c.1407C>T" "r.(?)" "p.(Asp469=)" "" "0000298583" "00014698" "10" "1441" "7" "1441" "7" "c.1441+7C>T" "r.(=)" "p.(=)" "" "0000298584" "00014698" "10" "1555" "10" "1555" "10" "c.1555+10A>G" "r.(=)" "p.(=)" "" "0000298585" "00014698" "10" "1635" "0" "1635" "0" "c.1635C>T" "r.(?)" "p.(Asp545=)" "" "0000298586" "00014698" "10" "1665" "0" "1665" "0" "c.1665G>A" "r.(?)" "p.(Thr555=)" "" "0000298587" "00014698" "10" "1669" "13" "1669" "13" "c.1669+13G>A" "r.(=)" "p.(=)" "" "0000298588" "00014698" "10" "1670" "-9" "1670" "-9" "c.1670-9A>G" "r.(=)" "p.(=)" "" "0000298589" "00014698" "30" "1863" "0" "1863" "0" "c.1863C>T" "r.(?)" "p.(Arg621=)" "" "0000298590" "00014698" "30" "2014" "16" "2014" "16" "c.2014+16C>T" "r.(=)" "p.(=)" "" "0000298591" "00014698" "10" "2205" "0" "2205" "0" "c.2205C>T" "r.(?)" "p.(Asn735=)" "" "0000298592" "00014698" "10" "2207" "10" "2207" "10" "c.2207+10G>A" "r.(=)" "p.(=)" "" "0000298593" "00014698" "30" "2217" "0" "2217" "0" "c.2217C>T" "r.(?)" "p.(Cys739=)" "" "0000298594" "00014698" "30" "2325" "0" "2325" "0" "c.2325C>T" "r.(?)" "p.(Tyr775=)" "" "0000298595" "00014698" "10" "2468" "-19" "2468" "-19" "c.2468-19G>A" "r.(=)" "p.(=)" "" "0000298596" "00014698" "10" "2587" "20" "2587" "20" "c.2587+20G>A" "r.(=)" "p.(=)" "" "0000298597" "00014698" "10" "2588" "-4" "2588" "-4" "c.2588-4G>A" "r.spl?" "p.?" "" "0000298598" "00014698" "10" "2664" "0" "2664" "0" "c.2664C>T" "r.(?)" "p.(His888=)" "" "0000298599" "00014698" "10" "2691" "0" "2691" "0" "c.2691C>T" "r.(?)" "p.(Ala897=)" "" "0000298600" "00014698" "10" "2734" "0" "2734" "0" "c.2734C>T" "r.(?)" "p.(Arg912Trp)" "" "0000298601" "00014698" "10" "2740" "12" "2740" "12" "c.2740+12C>T" "r.(=)" "p.(=)" "" "0000298602" "00014698" "30" "2740" "14" "2740" "14" "c.2740+14C>T" "r.(=)" "p.(=)" "" "0000298603" "00014698" "10" "2769" "0" "2769" "0" "c.2769A>G" "r.(?)" "p.(Thr923=)" "" "0000298604" "00014698" "30" "2805" "0" "2805" "0" "c.2805C>T" "r.(?)" "p.(Pro935=)" "" "0000298605" "00014698" "30" "2813" "0" "2813" "0" "c.2813G>A" "r.(?)" "p.(Arg938Gln)" "" "0000298606" "00014698" "30" "2928" "0" "2928" "0" "c.2928C>T" "r.(?)" "p.(Ser976=)" "" "0000298607" "00014698" "10" "2970" "-20" "2970" "-20" "c.2970-20G>A" "r.(=)" "p.(=)" "" "0000298608" "00014698" "10" "3294" "0" "3294" "0" "c.3294C>T" "r.(?)" "p.(Ser1098=)" "" "0000298609" "00014698" "30" "3326" "-11" "3326" "-11" "c.3326-11A>C" "r.(=)" "p.(=)" "" "0000298610" "00014698" "30" "3326" "-15" "3326" "-15" "c.3326-15C>A" "r.(=)" "p.(=)" "" "0000298611" "00014698" "10" "3333" "0" "3333" "0" "c.3333C>T" "r.(?)" "p.(Asp1111=)" "" "0000298612" "00014698" "10" "3511" "-10" "3511" "-10" "c.3511-10G>A" "r.(=)" "p.(=)" "" "0000298613" "00014698" "30" "3528" "0" "3528" "0" "c.3528C>T" "r.(?)" "p.(His1176=)" "" "0000298614" "00014698" "30" "3644" "-4" "3644" "-4" "c.3644-4G>A" "r.spl?" "p.?" "" "0000298615" "00014698" "10" "3780" "0" "3780" "0" "c.3780G>C" "r.(?)" "p.(Val1260=)" "" "0000298616" "00014698" "10" "3836" "0" "3836" "0" "c.3836G>A" "r.(?)" "p.(Arg1279His)" "" "0000298617" "00014698" "30" "4028" "0" "4028" "0" "c.4028C>T" "r.(?)" "p.(Ala1343Val)" "" "0000298618" "00014698" "10" "4129" "0" "4129" "0" "c.4129C>T" "r.(?)" "p.(Pro1377Ser)" "" "0000298619" "00014698" "50" "4492" "0" "4492" "0" "c.4492A>G" "r.(?)" "p.(Lys1498Glu)" "" "0000298620" "00014698" "10" "4536" "0" "4536" "0" "c.4536C>T" "r.(?)" "p.(Ala1512=)" "" "0000298621" "00014698" "30" "4626" "0" "4626" "0" "c.4626C>T" "r.(?)" "p.(Asp1542=)" "" "0000298622" "00014698" "30" "4887" "0" "4887" "0" "c.4887C>T" "r.(?)" "p.(His1629=)" "" "0000298623" "00014698" "30" "5019" "-13" "5019" "-10" "c.5019-13_5019-10del" "r.(=)" "p.(=)" "" "0000298624" "00014698" "30" "5073" "0" "5073" "0" "c.5073G>A" "r.(?)" "p.(Gln1691=)" "" "0000298625" "00014698" "10" "5094" "0" "5094" "0" "c.5094C>T" "r.(?)" "p.(Asp1698=)" "" "0000298626" "00014698" "10" "5168" "-10" "5168" "-10" "c.5168-10G>A" "r.(=)" "p.(=)" "" "0000298627" "00014698" "30" "5168" "-4" "5168" "-4" "c.5168-4G>A" "r.spl?" "p.?" "" "0000298628" "00014698" "30" "5175" "0" "5175" "0" "c.5175C>T" "r.(?)" "p.(Thr1725=)" "" "0000298629" "00014698" "30" "5176" "0" "5176" "0" "c.5176G>A" "r.(?)" "p.(Val1726Met)" "" "0000298630" "00014698" "30" "5500" "0" "5500" "0" "c.5500C>T" "r.(?)" "p.(Leu1834=)" "" "0000298631" "00014698" "30" "5638" "19" "5638" "19" "c.5638+19A>G" "r.(=)" "p.(=)" "" "0000298632" "00014698" "10" "5639" "-12" "5639" "-12" "c.5639-12C>T" "r.(=)" "p.(=)" "" "0000298633" "00014698" "30" "5673" "0" "5673" "0" "c.5673C>T" "r.(?)" "p.(Ser1891=)" "" "0000298634" "00014698" "10" "5679" "0" "5679" "0" "c.5679C>T" "r.(?)" "p.(Gly1893=)" "" "0000298635" "00014698" "50" "5780" "0" "5780" "0" "c.5780C>T" "r.(?)" "p.(Thr1927Met)" "" "0000298636" "00014698" "10" "5988" "0" "5988" "0" "c.5988G>A" "r.(?)" "p.(Thr1996=)" "" "0000298637" "00014698" "30" "6048" "0" "6048" "0" "c.6048C>T" "r.(?)" "p.(Asn2016=)" "" "0000298638" "00014698" "30" "621" "0" "621" "0" "c.621C>T" "r.(?)" "p.(Arg207=)" "" "0000298639" "00014698" "50" "6275" "0" "6275" "0" "c.6275A>C" "r.(?)" "p.(His2092Pro)" "" "0000298640" "00014698" "10" "6454" "0" "6454" "0" "c.6454G>C" "r.(?)" "p.(Gly2152Arg)" "" "0000298641" "00014698" "30" "663" "0" "663" "0" "c.663C>T" "r.(?)" "p.(Pro221=)" "" "0000298642" "00014698" "10" "6648" "0" "6648" "0" "c.6648G>A" "r.(?)" "p.(Pro2216=)" "" "0000298643" "00014698" "10" "6853" "0" "6853" "0" "c.6853G>A" "r.(?)" "p.(Val2285Ile)" "" "0000298644" "00014698" "10" "6870" "0" "6870" "0" "c.6870C>T" "r.(?)" "p.(Ser2290=)" "" "0000298645" "00014698" "10" "711" "0" "711" "0" "c.711C>T" "r.(?)" "p.(Gly237=)" "" "0000298646" "00014698" "10" "7209" "0" "7209" "0" "c.7209G>A" "r.(?)" "p.(Gln2403=)" "" "0000298647" "00014698" "10" "7233" "0" "7233" "0" "c.7233A>G" "r.(?)" "p.(Pro2411=)" "" "0000298648" "00014698" "30" "7251" "0" "7251" "0" "c.7251G>A" "r.(?)" "p.(Pro2417=)" "" "0000298649" "00014698" "30" "7289" "0" "7289" "0" "c.7289G>C" "r.(?)" "p.(Gly2430Ala)" "" "0000298650" "00014698" "30" "742" "19" "742" "19" "c.742+19C>T" "r.(=)" "p.(=)" "" "0000298651" "00014698" "30" "7606" "0" "7606" "0" "c.7606G>A" "r.(?)" "p.(Val2536Ile)" "" "0000298652" "00014698" "10" "852" "0" "852" "0" "c.852G>A" "r.(?)" "p.(Pro284=)" "" "0000298653" "00014698" "30" "865" "18" "865" "18" "c.865+18C>T" "r.(=)" "p.(=)" "" "0000300289" "00014698" "50" "1422" "0" "1422" "0" "c.1422C>A" "r.(?)" "p.(Phe474Leu)" "" "0000300290" "00014698" "50" "1423" "0" "1423" "0" "c.1423C>A" "r.(?)" "p.(Gln475Lys)" "" "0000300291" "00014698" "50" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Pro60Ser)" "" "0000300292" "00014698" "30" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Glu694Lys)" "" "0000300293" "00014698" "30" "2325" "0" "2325" "0" "c.2325C>T" "r.(?)" "p.(Tyr775=)" "" "0000300294" "00014698" "30" "2588" "-15" "2588" "-15" "c.2588-15C>T" "r.(=)" "p.(=)" "" "0000300295" "00014698" "30" "2734" "0" "2734" "0" "c.2734C>T" "r.(?)" "p.(Arg912Trp)" "" "0000300296" "00014698" "30" "2970" "-9" "2970" "-9" "c.2970-9C>T" "r.(=)" "p.(=)" "" "0000300297" "00014698" "30" "3644" "-4" "3644" "-4" "c.3644-4G>A" "r.spl?" "p.?" "" "0000300298" "00014698" "30" "3836" "0" "3836" "0" "c.3836G>A" "r.(?)" "p.(Arg1279His)" "" "0000300299" "00014698" "30" "393" "0" "393" "0" "c.393C>T" "r.(?)" "p.(Pro131=)" "" "0000300300" "00014698" "10" "4129" "0" "4129" "0" "c.4129C>T" "r.(?)" "p.(Pro1377Ser)" "" "0000300301" "00014698" "30" "4130" "0" "4130" "0" "c.4130C>T" "r.(?)" "p.(Pro1377Leu)" "" "0000300302" "00014698" "30" "4168" "0" "4168" "0" "c.4168C>A" "r.(?)" "p.(Pro1390Thr)" "" "0000300303" "00014698" "30" "4254" "0" "4254" "0" "c.4254C>G" "r.(?)" "p.(Ala1418=)" "" "0000300304" "00014698" "30" "4407" "0" "4407" "0" "c.4407C>T" "r.(?)" "p.(Asn1469=)" "" "0000300305" "00014698" "30" "5168" "-4" "5168" "-4" "c.5168-4G>A" "r.spl?" "p.?" "" "0000300306" "00014698" "30" "5384" "14" "5384" "14" "c.5384+14G>A" "r.(=)" "p.(=)" "" "0000300307" "00014698" "10" "6853" "0" "6853" "0" "c.6853G>A" "r.(?)" "p.(Val2285Ile)" "" "0000300308" "00014698" "50" "7397" "0" "7397" "0" "c.7397C>T" "r.(?)" "p.(Thr2466Met)" "" "0000304255" "00014698" "30" "1146" "0" "1146" "0" "c.1146C>T" "r.(?)" "p.(Asn382=)" "" "0000304256" "00014698" "30" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Glu383Lys)" "" "0000304257" "00014698" "50" "1295" "0" "1295" "0" "c.1295C>T" "r.(?)" "p.(Thr432Met)" "" "0000304258" "00014698" "30" "1380" "0" "1380" "0" "c.1380G>A" "r.(?)" "p.(Pro460=)" "" "0000304259" "00014698" "30" "1389" "0" "1389" "0" "c.1389C>T" "r.(?)" "p.(Asn463=)" "" "0000304260" "00014698" "30" "1440" "0" "1440" "0" "c.1440C>A" "r.(?)" "p.(Pro480=)" "" "0000304261" "00014698" "30" "1441" "8" "1441" "8" "c.1441+8G>A" "r.(=)" "p.(=)" "" "0000304262" "00014698" "50" "1699" "0" "1699" "0" "c.1699A>G" "r.(?)" "p.(Ile567Val)" "" "0000304263" "00014698" "50" "1718" "0" "1718" "0" "c.1718A>C" "r.(?)" "p.(Asp573Ala)" "" "0000304264" "00014698" "50" "1774" "0" "1774" "0" "c.1774C>T" "r.(?)" "p.(Arg592Cys)" "" "0000304265" "00014698" "30" "1863" "0" "1863" "0" "c.1863C>T" "r.(?)" "p.(Arg621=)" "" "0000304266" "00014698" "30" "1869" "0" "1869" "0" "c.1869C>T" "r.(?)" "p.(Asn623=)" "" "0000304267" "00014698" "30" "1962" "0" "1962" "0" "c.1962C>T" "r.(?)" "p.(Thr654=)" "" "0000304268" "00014698" "30" "2049" "0" "2049" "0" "c.2049G>A" "r.(?)" "p.(Ala683=)" "" "0000304269" "00014698" "30" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Glu694Lys)" "" "0000304270" "00014698" "30" "2112" "0" "2112" "0" "c.2112C>T" "r.(?)" "p.(Cys704=)" "" "0000304271" "00014698" "30" "2181" "0" "2181" "0" "c.2181C>T" "r.(?)" "p.(His727=)" "" "0000304272" "00014698" "30" "2207" "10" "2207" "10" "c.2207+10G>A" "r.(=)" "p.(=)" "" "0000304273" "00014698" "30" "2325" "0" "2325" "0" "c.2325C>T" "r.(?)" "p.(Tyr775=)" "" "0000304274" "00014698" "50" "2338" "0" "2338" "0" "c.2338C>T" "r.(?)" "p.(Arg780Trp)" "" "0000304275" "00014698" "30" "2576" "0" "2576" "0" "c.2576C>T" "r.(?)" "p.(Thr859Met)" "" "0000304276" "00014698" "30" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Ser88Asn)" "" "0000304277" "00014698" "10" "2646" "0" "2646" "0" "c.2646A>T" "r.(?)" "p.(Ala882=)" "" "0000304278" "00014698" "50" "2705" "0" "2705" "0" "c.2705G>A" "r.(?)" "p.(Arg902His)" "" "0000304279" "00014698" "30" "2734" "0" "2734" "0" "c.2734C>T" "r.(?)" "p.(Arg912Trp)" "" "0000304280" "00014698" "30" "2805" "0" "2805" "0" "c.2805C>T" "r.(?)" "p.(Pro935=)" "" "0000304281" "00014698" "10" "312" "0" "312" "0" "c.312T>C" "r.(?)" "p.(Asn104=)" "" "0000304282" "00014698" "30" "3115" "0" "3115" "0" "c.3115G>A" "r.(?)" "p.(Gly1039Ser)" "" "0000304283" "00014698" "50" "311" "0" "311" "0" "c.311A>G" "r.(?)" "p.(Asn104Ser)" "" "0000304284" "00014698" "50" "3211" "0" "3211" "0" "c.3211G>A" "r.(?)" "p.(Gly1071Ser)" "" "0000304285" "00014698" "10" "3249" "0" "3249" "0" "c.3249C>T" "r.(?)" "p.(Cys1083=)" "" "0000304286" "00014698" "50" "3261" "0" "3261" "0" "c.3261C>A" "r.(?)" "p.(Ser1087Arg)" "" "0000304287" "00014698" "30" "3288" "0" "3288" "0" "c.3288G>C" "r.(?)" "p.(Val1096=)" "" "0000304288" "00014698" "30" "3294" "0" "3294" "0" "c.3294C>T" "r.(?)" "p.(Ser1098=)" "" "0000304289" "00014698" "10" "3315" "0" "3315" "0" "c.3315G>T" "r.(?)" "p.(Ala1105=)" "" "0000304290" "00014698" "10" "3325" "21" "3325" "21" "c.3325+21A>G" "r.(=)" "p.(=)" "" "0000304291" "00014698" "30" "3510" "3" "3510" "3" "c.3510+3G>A" "r.spl?" "p.?" "" "0000304292" "00014698" "10" "3511" "-10" "3511" "-10" "c.3511-10G>A" "r.(=)" "p.(=)" "" "0000304293" "00014698" "30" "3644" "-4" "3644" "-4" "c.3644-4G>A" "r.spl?" "p.?" "" "0000304294" "00014698" "30" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Thr123Met)" "" "0000304295" "00014698" "30" "3723" "0" "3723" "0" "c.3723C>T" "r.(?)" "p.(Asn1241=)" "" "0000304296" "00014698" "10" "3780" "0" "3780" "0" "c.3780G>C" "r.(?)" "p.(Val1260=)" "" "0000304297" "00014698" "30" "3832" "0" "3832" "0" "c.3832G>A" "r.(?)" "p.(Ala1278Thr)" "" "0000304298" "00014698" "30" "390" "0" "390" "0" "c.390G>A" "r.(?)" "p.(Pro130=)" "" "0000304299" "00014698" "90" "3958" "0" "3959" "0" "c.3958_3959del" "r.(?)" "p.(Gly1320HisfsTer26)" "" "0000304300" "00014698" "50" "3959" "0" "3959" "0" "c.3959G>T" "r.(?)" "p.(Gly1320Val)" "" "0000304301" "00014698" "30" "3966" "0" "3966" "0" "c.3966C>T" "r.(?)" "p.(Cys1322=)" "" "0000304302" "00014698" "50" "4014" "0" "4014" "0" "c.4014G>A" "r.(?)" "p.(Ala1338=)" "" "0000304303" "00014698" "50" "4049" "0" "4049" "0" "c.4049G>T" "r.(?)" "p.(Arg1350Leu)" "" "0000304304" "00014698" "50" "4057" "0" "4057" "0" "c.4057G>A" "r.(?)" "p.(Gly1353Ser)" "" "0000304305" "00014698" "50" "4168" "0" "4168" "0" "c.4168C>A" "r.(?)" "p.(Pro1390Thr)" "" "0000304306" "00014698" "30" "4221" "0" "4221" "0" "c.4221C>T" "r.(?)" "p.(Ser1407=)" "" "0000304307" "00014698" "30" "4290" "0" "4290" "0" "c.4290C>T" "r.(?)" "p.(Tyr1430=)" "" "0000304308" "00014698" "30" "4306" "0" "4306" "0" "c.4306G>C" "r.(?)" "p.(Ala1436Pro)" "" "0000304309" "00014698" "30" "4344" "0" "4344" "0" "c.4344G>A" "r.(?)" "p.(Ala1448=)" "" "0000304310" "00014698" "30" "4407" "0" "4407" "0" "c.4407C>T" "r.(?)" "p.(Asn1469=)" "" "0000304311" "00014698" "30" "4520" "0" "4520" "0" "c.4520G>A" "r.(?)" "p.(Ser1507Asn)" "" "0000304312" "00014698" "30" "4536" "0" "4536" "0" "c.4536C>T" "r.(?)" "p.(Ala1512=)" "" "0000304313" "00014698" "90" "4564" "0" "4571" "0" "c.4564_4571del" "r.(?)" "p.(Gln1522GlyfsTer85)" "" "0000304314" "00014698" "50" "4709" "0" "4709" "0" "c.4709C>T" "r.(?)" "p.(Ala1570Val)" "" "0000304315" "00014698" "30" "4887" "0" "4887" "0" "c.4887C>T" "r.(?)" "p.(His1629=)" "" "0000304316" "00014698" "30" "4930" "0" "4930" "0" "c.4930C>T" "r.(?)" "p.(Leu1644=)" "" "0000304317" "00014698" "30" "4985" "0" "4985" "0" "c.4985G>A" "r.(?)" "p.(Arg1662Gln)" "" "0000304318" "00014698" "10" "5011" "0" "5011" "0" "c.5011G>A" "r.(?)" "p.(Val1671Ile)" "" "0000304319" "00014698" "30" "5073" "0" "5073" "0" "c.5073G>A" "r.(?)" "p.(Gln1691=)" "" "0000304320" "00014698" "10" "5094" "0" "5094" "0" "c.5094C>T" "r.(?)" "p.(Asp1698=)" "" "0000304321" "00014698" "30" "5175" "0" "5175" "0" "c.5175C>T" "r.(?)" "p.(Thr1725=)" "" "0000304322" "00014698" "30" "5189" "0" "5189" "0" "c.5189C>T" "r.(?)" "p.(Pro1730Leu)" "" "0000304323" "00014698" "30" "5222" "0" "5222" "0" "c.5222C>T" "r.(?)" "p.(Ala1741Val)" "" "0000304324" "00014698" "50" "5282" "0" "5282" "0" "c.5282G>A" "r.(?)" "p.(Arg1761Gln)" "" "0000304325" "00014698" "50" "5387" "0" "5387" "0" "c.5387C>A" "r.(?)" "p.(Pro1796His)" "" "0000304326" "00014698" "30" "5421" "0" "5421" "0" "c.5421C>T" "r.(?)" "p.(Asp1807=)" "" "0000304327" "00014698" "10" "5445" "0" "5445" "0" "c.5445C>T" "r.(?)" "p.(Asp1815=)" "" "0000304328" "00014698" "50" "5837" "0" "5837" "0" "c.5837G>A" "r.(?)" "p.(Arg1946His)" "" "0000304329" "00014698" "50" "5971" "0" "5971" "0" "c.5971C>T" "r.(?)" "p.(Arg1991Cys)" "" "0000304330" "00014698" "30" "5988" "0" "5988" "0" "c.5988G>A" "r.(?)" "p.(Thr1996=)" "" "0000304331" "00014698" "30" "62" "-9" "62" "-9" "c.62-9C>G" "r.(=)" "p.(=)" "" "0000304332" "00014698" "30" "6204" "0" "6204" "0" "c.6204C>T" "r.(?)" "p.(Ala2068=)" "" "0000304333" "00014698" "50" "6298" "0" "6298" "0" "c.6298A>G" "r.(?)" "p.(Ile2100Val)" "" "0000304334" "00014698" "30" "6397" "0" "6397" "0" "c.6397C>T" "r.(?)" "p.(Pro2133Ser)" "" "0000304335" "00014698" "30" "6429" "0" "6429" "0" "c.6429C>T" "r.(?)" "p.(Asn2143=)" "" "0000304336" "00014698" "10" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Pro22Ser)" "" "0000304337" "00014698" "30" "6521" "0" "6521" "0" "c.6521A>G" "r.(?)" "p.(Lys2174Arg)" "" "0000304338" "00014698" "30" "6870" "0" "6870" "0" "c.6870C>T" "r.(?)" "p.(Ser2290=)" "" "0000304339" "00014698" "30" "6903" "0" "6903" "0" "c.6903C>T" "r.(?)" "p.(Ser2301=)" "" "0000304340" "00014698" "30" "7251" "0" "7251" "0" "c.7251G>A" "r.(?)" "p.(Pro2417=)" "" "0000304341" "00014698" "30" "7494" "0" "7494" "0" "c.7494C>T" "r.(?)" "p.(Pro2498=)" "" "0000304342" "00014698" "30" "7606" "0" "7606" "0" "c.7606G>A" "r.(?)" "p.(Val2536Ile)" "" "0000304343" "00014698" "30" "79" "0" "79" "0" "c.79C>A" "r.(?)" "p.(Pro27Thr)" "" "0000332910" "00014698" "50" "6788" "0" "6788" "0" "c.6788G>A" "r.(?)" "p.(Arg2263Gln)" "" "0000332912" "00014698" "30" "4049" "0" "4049" "0" "c.4049G>T" "r.(?)" "p.(Arg1350Leu)" "" "0000332913" "00014698" "30" "4028" "0" "4028" "0" "c.4028C>T" "r.(?)" "p.(Ala1343Val)" "" "0000332914" "00014698" "50" "2728" "0" "2728" "0" "c.2728G>A" "r.(?)" "p.(Asp910Asn)" "" "0000332915" "00014698" "30" "2192" "0" "2192" "0" "c.2192G>A" "r.(?)" "p.(Arg731Gln)" "" "0000332916" "00014698" "50" "1897" "0" "1897" "0" "c.1897A>T" "r.(?)" "p.(Thr633Ser)" "" "0000332917" "00014698" "50" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Arg621His)" "" "0000332920" "00014698" "50" "1007" "0" "1007" "0" "c.1007T>C" "r.(?)" "p.(Ile336Thr)" "" "0000347022" "00014698" "50" "7369" "0" "7369" "0" "c.7369C>G" "r.(?)" "p.(Leu2457Val)" "" "0000537207" "00014698" "10" "7794" "0" "7794" "0" "c.*126G>A" "r.(=)" "p.(=)" "" "0000537208" "00014698" "10" "7515" "0" "7515" "0" "c.7515T>G" "r.(?)" "p.(Pro2505=)" "" "0000537209" "00014698" "30" "7390" "0" "7390" "0" "c.7390C>T" "r.(?)" "p.(Leu2464=)" "" "0000537210" "00014698" "50" "7363" "0" "7363" "0" "c.7363A>G" "r.(?)" "p.(Thr2455Ala)" "" "0000537211" "00014698" "30" "7356" "0" "7356" "0" "c.7356G>A" "r.(?)" "p.(Ala2452=)" "" "0000537212" "00014698" "50" "7316" "0" "7316" "0" "c.7316G>T" "r.(?)" "p.(Ser2439Ile)" "" "0000537213" "00014698" "10" "7209" "0" "7209" "0" "c.7209G>A" "r.(?)" "p.(Gln2403=)" "" "0000537214" "00014698" "10" "6991" "0" "6991" "0" "c.6991G>A" "r.(?)" "p.(Ala2331Thr)" "" "0000537215" "00014698" "10" "6991" "0" "6991" "0" "c.6991G>A" "r.(?)" "p.(Ala2331Thr)" "" "0000537217" "00014698" "50" "6924" "0" "6924" "0" "c.6924C>T" "r.(?)" "p.(Cys2308=)" "" "0000537218" "00014698" "30" "6898" "0" "6898" "0" "c.6898G>A" "r.(?)" "p.(Gly2300Arg)" "" "0000537219" "00014698" "50" "6897" "0" "6897" "0" "c.6897C>T" "r.(?)" "p.(Gly2299=)" "" "0000537221" "00014698" "10" "6870" "0" "6870" "0" "c.6870C>T" "r.(?)" "p.(Ser2290=)" "" "0000537222" "00014698" "30" "6853" "0" "6853" "0" "c.6853G>A" "r.(?)" "p.(Val2285Ile)" "" "0000537223" "00014698" "10" "6853" "0" "6853" "0" "c.6853G>A" "r.(?)" "p.(Val2285Ile)" "" "0000537224" "00014698" "10" "6777" "0" "6777" "0" "c.6777T>C" "r.(?)" "p.(Gly2259=)" "" "0000537225" "00014698" "30" "6771" "0" "6771" "0" "c.6771G>T" "r.(?)" "p.(Ala2257=)" "" "0000537226" "00014698" "30" "6771" "0" "6771" "0" "c.6771G>A" "r.(?)" "p.(Ala2257=)" "" "0000537227" "00014698" "50" "6715" "0" "6715" "0" "c.6715G>A" "r.(?)" "p.(Asp2239Asn)" "" "0000537228" "00014698" "30" "6685" "0" "6685" "0" "c.6685G>A" "r.(?)" "p.(Val2229Met)" "" "0000537229" "00014698" "10" "6648" "0" "6648" "0" "c.6648G>A" "r.(?)" "p.(Pro2216=)" "" "0000537230" "00014698" "30" "6568" "0" "6568" "0" "c.6568C>T" "r.(?)" "p.(Leu2190=)" "" "0000537231" "00014698" "10" "6555" "0" "6555" "0" "c.6555C>T" "r.(?)" "p.(Asp2185=)" "" "0000537232" "00014698" "10" "6555" "0" "6555" "0" "c.6555C>T" "r.(?)" "p.(Asp2185=)" "" "0000537233" "00014698" "10" "6555" "0" "6555" "0" "c.6555C>T" "r.(?)" "p.(Asp2185=)" "" "0000537234" "00014698" "10" "6555" "0" "6555" "0" "c.6555C>T" "r.(?)" "p.(Asp2185=)" "" "0000537235" "00014698" "30" "6457" "0" "6457" "0" "c.6457G>A" "r.(?)" "p.(Val2153Met)" "" "0000537236" "00014698" "10" "6454" "0" "6454" "0" "c.6454G>C" "r.(?)" "p.(Gly2152Arg)" "" "0000537237" "00014698" "30" "6454" "0" "6454" "0" "c.6454G>A" "r.(?)" "p.(Gly2152Ser)" "" "0000537238" "00014698" "30" "6453" "0" "6453" "0" "c.6453C>T" "r.(?)" "p.(Pro2151=)" "" "0000537239" "00014698" "30" "6453" "0" "6453" "0" "c.6453C>T" "r.(?)" "p.(Pro2151=)" "" "0000537240" "00014698" "50" "6422" "0" "6422" "0" "c.6422C>T" "r.(?)" "p.(Ser2141Leu)" "" "0000537242" "00014698" "30" "6396" "0" "6396" "0" "c.6396G>C" "r.(?)" "p.(Thr2132=)" "" "0000537243" "00014698" "30" "6379" "0" "6379" "0" "c.6379G>A" "r.(?)" "p.(Ala2127Thr)" "" "0000537244" "00014698" "50" "6290" "0" "6290" "0" "c.6290C>T" "r.(?)" "p.(Pro2097Leu)" "" "0000537245" "00014698" "30" "6285" "0" "6285" "0" "c.6285C>T" "r.(?)" "p.(Arg2095=)" "" "0000537246" "00014698" "30" "6228" "0" "6228" "0" "c.6228C>T" "r.(?)" "p.(Thr2076=)" "" "0000537247" "00014698" "30" "6222" "0" "6222" "0" "c.6222C>T" "r.(?)" "p.(Tyr2074=)" "" "0000537248" "00014698" "30" "6181" "-15" "6181" "-15" "c.6181-15G>A" "r.(=)" "p.(=)" "" "0000537249" "00014698" "30" "6181" "-17" "6181" "-17" "c.6181-17C>T" "r.(=)" "p.(=)" "" "0000537250" "00014698" "30" "6180" "9" "6180" "9" "c.6180+9G>A" "r.(=)" "p.(=)" "" "0000537251" "00014698" "30" "6133" "0" "6133" "0" "c.6133G>C" "r.(?)" "p.(Val2045Leu)" "" "0000537252" "00014698" "50" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Ala2044Thr)" "" "0000537253" "00014698" "50" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Ala2044Thr)" "" "0000537254" "00014698" "30" "6083" "-4" "6083" "-4" "c.6083-4G>A" "r.spl?" "p.?" "" "0000537255" "00014698" "30" "6083" "-5" "6083" "-5" "c.6083-5C>T" "r.spl?" "p.?" "" "0000537256" "00014698" "30" "6036" "0" "6036" "0" "c.6036G>A" "r.(?)" "p.(Glu2012=)" "" "0000537258" "00014698" "50" "5843" "0" "5843" "0" "c.5843T>C" "r.(?)" "p.(Leu1948Pro)" "" "0000537259" "00014698" "50" "5776" "0" "5776" "0" "c.5776C>T" "r.(?)" "p.(Arg1926Cys)" "" "0000537260" "00014698" "30" "5718" "0" "5718" "0" "c.5718G>A" "r.(?)" "p.(Ala1906=)" "" "0000537261" "00014698" "30" "5676" "0" "5676" "0" "c.5676G>A" "r.(?)" "p.(Gly1892=)" "" "0000537262" "00014698" "10" "5639" "-12" "5639" "-12" "c.5639-12C>T" "r.(=)" "p.(=)" "" "0000537263" "00014698" "30" "5638" "19" "5638" "19" "c.5638+19A>G" "r.(=)" "p.(=)" "" "0000537264" "00014698" "50" "5629" "0" "5629" "0" "c.5629C>T" "r.(?)" "p.(Arg1877Cys)" "" "0000537265" "00014698" "50" "5605" "0" "5605" "0" "c.5605G>A" "r.(?)" "p.(Ala1869Thr)" "" "0000537266" "00014698" "30" "5500" "0" "5500" "0" "c.5500C>T" "r.(?)" "p.(Leu1834=)" "" "0000537267" "00014698" "30" "5473" "-11" "5473" "-11" "c.5473-11C>T" "r.(=)" "p.(=)" "" "0000537268" "00014698" "30" "5421" "0" "5421" "0" "c.5421C>T" "r.(?)" "p.(Asp1807=)" "" "0000537269" "00014698" "50" "5414" "0" "5414" "0" "c.5414T>C" "r.(?)" "p.(Leu1805Pro)" "" "0000537270" "00014698" "30" "5403" "0" "5403" "0" "c.5403A>G" "r.(?)" "p.(Ser1801=)" "" "0000537271" "00014698" "30" "5384" "34" "5384" "34" "c.5384+34G>A" "r.(=)" "p.(=)" "" "0000537273" "00014698" "10" "5226" "0" "5226" "0" "c.5226C>T" "r.(?)" "p.(Ala1742=)" "" "0000537274" "00014698" "30" "5226" "0" "5226" "0" "c.5226C>T" "r.(?)" "p.(Ala1742=)" "" "0000537275" "00014698" "30" "5189" "0" "5189" "0" "c.5189C>T" "r.(?)" "p.(Pro1730Leu)" "" "0000537277" "00014698" "30" "5167" "44" "5167" "44" "c.5167+44del" "r.(=)" "p.(=)" "" "0000537278" "00014698" "30" "5124" "0" "5124" "0" "c.5124G>T" "r.(?)" "p.(Ser1708=)" "" "0000537279" "00014698" "30" "5124" "0" "5124" "0" "c.5124G>T" "r.(?)" "p.(Ser1708=)" "" "0000537280" "00014698" "10" "5124" "0" "5124" "0" "c.5124G>T" "r.(?)" "p.(Ser1708=)" "" "0000537281" "00014698" "10" "5094" "0" "5094" "0" "c.5094C>T" "r.(?)" "p.(Asp1698=)" "" "0000537282" "00014698" "70" "5026" "0" "5027" "0" "c.5026_5027del" "r.(?)" "p.(Val1676LeufsTer5)" "" "0000537283" "00014698" "70" "5019" "-2" "5019" "-2" "c.5019-2A>G" "r.spl?" "p.?" "" "0000537284" "00014698" "10" "5019" "-13" "5019" "-13" "c.5019-13A>G" "r.(=)" "p.(=)" "" "0000537285" "00014698" "10" "5018" "20" "5018" "20" "c.5018+20C>T" "r.(=)" "p.(=)" "" "0000537286" "00014698" "50" "5012" "0" "5012" "0" "c.5012T>G" "r.(?)" "p.(Val1671Gly)" "" "0000537287" "00014698" "10" "5011" "0" "5011" "0" "c.5011G>A" "r.(?)" "p.(Val1671Ile)" "" "0000537288" "00014698" "50" "4996" "0" "4996" "0" "c.4996C>G" "r.(?)" "p.(Leu1666Val)" "" "0000537290" "00014698" "30" "4930" "0" "4930" "0" "c.4930C>T" "r.(?)" "p.(Leu1644=)" "" "0000537291" "00014698" "30" "4930" "0" "4930" "0" "c.4930C>T" "r.(?)" "p.(Leu1644=)" "" "0000537292" "00014698" "10" "4917" "0" "4917" "0" "c.4917C>T" "r.(?)" "p.(Ala1639=)" "" "0000537293" "00014698" "30" "4917" "0" "4917" "0" "c.4917C>T" "r.(?)" "p.(Ala1639=)" "" "0000537294" "00014698" "30" "4887" "0" "4887" "0" "c.4887C>T" "r.(?)" "p.(His1629=)" "" "0000537295" "00014698" "70" "4882" "0" "4882" "0" "c.4882A>T" "r.(?)" "p.(Lys1628Ter)" "" "0000537296" "00014698" "30" "4823" "0" "4823" "0" "c.4823G>A" "r.(?)" "p.(Arg1608His)" "" "0000537297" "00014698" "30" "4746" "0" "4746" "0" "c.4746G>A" "r.(?)" "p.(Pro1582=)" "" "0000537298" "00014698" "30" "4713" "0" "4713" "0" "c.4713C>T" "r.(?)" "p.(Ala1571=)" "" "0000537299" "00014698" "50" "4709" "0" "4709" "0" "c.4709C>G" "r.(?)" "p.(Ala1570Gly)" "" "0000537300" "00014698" "50" "4696" "0" "4696" "0" "c.4696C>T" "r.(?)" "p.(Pro1566Ser)" "" "0000537301" "00014698" "50" "4636" "0" "4636" "0" "c.4636G>A" "r.(?)" "p.(Asp1546Asn)" "" "0000537302" "00014698" "30" "4635" "0" "4635" "0" "c.4635C>T" "r.(?)" "p.(Cys1545=)" "" "0000537303" "00014698" "30" "4617" "0" "4617" "0" "c.4617C>T" "r.(?)" "p.(His1539=)" "" "0000537304" "00014698" "30" "4586" "10" "4586" "10" "c.4586+10C>T" "r.(=)" "p.(=)" "" "0000537305" "00014698" "30" "4586" "10" "4586" "10" "c.4586+10C>T" "r.(=)" "p.(=)" "" "0000537306" "00014698" "70" "4549" "0" "4549" "0" "c.4549G>C" "r.(?)" "p.(Asp1517His)" "" "0000537307" "00014698" "30" "4536" "0" "4536" "0" "c.4536C>T" "r.(?)" "p.(Ala1512=)" "" "0000537308" "00014698" "30" "4443" "0" "4443" "0" "c.4443C>T" "r.(?)" "p.(Leu1481=)" "" "0000537309" "00014698" "50" "4328" "0" "4328" "0" "c.4328C>T" "r.(?)" "p.(Pro1443Leu)" "" "0000537310" "00014698" "30" "4263" "0" "4263" "0" "c.4263C>T" "r.(?)" "p.(Asn1421=)" "" "0000537311" "00014698" "30" "4238" "0" "4238" "0" "c.4238G>A" "r.(?)" "p.(Arg1413His)" "" "0000537312" "00014698" "30" "4224" "0" "4224" "0" "c.4224G>A" "r.(?)" "p.(Glu1408=)" "" "0000537313" "00014698" "50" "4183" "0" "4183" "0" "c.4183A>G" "r.(?)" "p.(Asn1395Asp)" "" "0000537314" "00014698" "10" "4168" "0" "4168" "0" "c.4168C>A" "r.(?)" "p.(Pro1390Thr)" "" "0000537315" "00014698" "10" "4129" "0" "4129" "0" "c.4129C>T" "r.(?)" "p.(Pro1377Ser)" "" "0000537316" "00014698" "10" "4129" "0" "4129" "0" "c.4129C>T" "r.(?)" "p.(Pro1377Ser)" "" "0000537317" "00014698" "30" "4095" "0" "4095" "0" "c.4095C>T" "r.(?)" "p.(Ser1365=)" "" "0000537318" "00014698" "50" "4078" "0" "4078" "0" "c.4078G>A" "r.(?)" "p.(Gly1360Ser)" "" "0000537319" "00014698" "30" "4077" "0" "4077" "0" "c.4077C>T" "r.(?)" "p.(Asn1359=)" "" "0000537321" "00014698" "30" "4049" "0" "4049" "0" "c.4049G>T" "r.(?)" "p.(Arg1350Leu)" "" "0000537322" "00014698" "50" "4031" "0" "4031" "0" "c.4031C>T" "r.(?)" "p.(Thr1344Met)" "" "0000537323" "00014698" "30" "4028" "0" "4028" "0" "c.4028C>T" "r.(?)" "p.(Ala1343Val)" "" "0000537324" "00014698" "30" "4028" "0" "4028" "0" "c.4028C>T" "r.(?)" "p.(Ala1343Val)" "" "0000537325" "00014698" "30" "4021" "0" "4021" "0" "c.4021G>A" "r.(?)" "p.(Glu1341Lys)" "" "0000537326" "00014698" "30" "4015" "-16" "4015" "-16" "c.4015-16C>T" "r.(=)" "p.(=)" "" "0000537327" "00014698" "30" "4015" "-24" "4015" "-24" "c.4015-24C>T" "r.(=)" "p.(=)" "" "0000537328" "00014698" "30" "4014" "33" "4014" "33" "c.4014+33G>A" "r.(=)" "p.(=)" "" "0000537329" "00014698" "50" "3985" "0" "3985" "0" "c.3985G>A" "r.(?)" "p.(Ala1329Thr)" "" "0000537331" "00014698" "50" "3853" "0" "3853" "0" "c.3853G>A" "r.(?)" "p.(Val1285Met)" "" "0000537332" "00014698" "10" "3836" "0" "3836" "0" "c.3836G>A" "r.(?)" "p.(Arg1279His)" "" "0000537333" "00014698" "10" "3836" "0" "3836" "0" "c.3836G>A" "r.(?)" "p.(Arg1279His)" "" "0000537334" "00014698" "30" "3836" "0" "3836" "0" "c.3836G>A" "r.(?)" "p.(Arg1279His)" "" "0000537335" "00014698" "50" "3835" "0" "3835" "0" "c.3835C>T" "r.(?)" "p.(Arg1279Cys)" "" "0000537336" "00014698" "50" "3835" "0" "3835" "0" "c.3835C>T" "r.(?)" "p.(Arg1279Cys)" "" "0000537337" "00014698" "30" "3835" "0" "3835" "0" "c.3835C>T" "r.(?)" "p.(Arg1279Cys)" "" "0000537338" "00014698" "30" "3780" "0" "3780" "0" "c.3780G>C" "r.(?)" "p.(Val1260=)" "" "0000537339" "00014698" "50" "3700" "0" "3700" "0" "c.3700C>T" "r.(?)" "p.(Arg1234Trp)" "" "0000537340" "00014698" "30" "3694" "0" "3694" "0" "c.3694G>A" "r.(?)" "p.(Val1232Met)" "" "0000537341" "00014698" "30" "3644" "-4" "3644" "-4" "c.3644-4G>A" "r.spl?" "p.?" "" "0000537342" "00014698" "30" "3644" "-5" "3644" "-5" "c.3644-5C>G" "r.spl?" "p.?" "" "0000537343" "00014698" "50" "3635" "0" "3635" "0" "c.3635G>A" "r.(?)" "p.(Gly1212Asp)" "" "0000537344" "00014698" "50" "3631" "0" "3631" "0" "c.3631C>T" "r.(?)" "p.(Arg1211Trp)" "" "0000537345" "00014698" "50" "3524" "0" "3524" "0" "c.3524A>G" "r.(?)" "p.(Tyr1175Cys)" "" "0000537346" "00014698" "10" "3511" "-10" "3511" "-10" "c.3511-10G>A" "r.(=)" "p.(=)" "" "0000537347" "00014698" "30" "3511" "-11" "3511" "-11" "c.3511-11C>T" "r.(=)" "p.(=)" "" "0000537348" "00014698" "10" "3325" "21" "3325" "21" "c.3325+21A>G" "r.(=)" "p.(=)" "" "0000537349" "00014698" "30" "3315" "0" "3315" "0" "c.3315G>T" "r.(?)" "p.(Ala1105=)" "" "0000537350" "00014698" "30" "3294" "0" "3294" "0" "c.3294C>T" "r.(?)" "p.(Ser1098=)" "" "0000537352" "00014698" "30" "3288" "0" "3288" "0" "c.3288G>C" "r.(?)" "p.(Val1096=)" "" "0000537353" "00014698" "50" "3271" "0" "3271" "0" "c.3271G>A" "r.(?)" "p.(Gly1091Ser)" "" "0000537354" "00014698" "30" "3245" "0" "3245" "0" "c.3245G>A" "r.(?)" "p.(Arg1082His)" "" "0000537355" "00014698" "50" "3214" "0" "3214" "0" "c.3214G>A" "r.(?)" "p.(Gly1072Ser)" "" "0000537356" "00014698" "30" "3213" "0" "3213" "0" "c.3213C>T" "r.(?)" "p.(Gly1071=)" "" "0000537357" "00014698" "10" "3171" "81" "3171" "81" "c.3171+81dup" "r.(=)" "p.(=)" "" "0000537358" "00014698" "30" "3171" "27" "3171" "27" "c.3171+27C>T" "r.(=)" "p.(=)" "" "0000537359" "00014698" "50" "3121" "0" "3121" "0" "c.3121G>A" "r.(?)" "p.(Gly1041Ser)" "" "0000537360" "00014698" "30" "3114" "0" "3114" "0" "c.3114C>T" "r.(?)" "p.(Asp1038=)" "" "0000537361" "00014698" "50" "3077" "0" "3077" "0" "c.3077A>G" "r.(?)" "p.(Asp1026Gly)" "" "0000537363" "00014698" "50" "3011" "0" "3011" "0" "c.3011C>T" "r.(?)" "p.(Ser1004Leu)" "" "0000537364" "00014698" "30" "3011" "0" "3011" "0" "c.3011C>T" "r.(?)" "p.(Ser1004Leu)" "" "0000537365" "00014698" "50" "3001" "0" "3001" "0" "c.3001G>A" "r.(?)" "p.(Gly1001Ser)" "" "0000537366" "00014698" "30" "2970" "-20" "2970" "-20" "c.2970-20G>A" "r.(=)" "p.(=)" "" "0000537367" "00014698" "10" "2970" "-31" "2970" "-31" "c.2970-31A>G" "r.(=)" "p.(=)" "" "0000537368" "00014698" "50" "2908" "0" "2908" "0" "c.2908A>G" "r.(?)" "p.(Thr970Ala)" "" "0000537369" "00014698" "50" "2908" "0" "2908" "0" "c.2908A>G" "r.(?)" "p.(Thr970Ala)" "" "0000537370" "00014698" "50" "2908" "0" "2908" "0" "c.2908A>G" "r.(?)" "p.(Thr970Ala)" "" "0000537371" "00014698" "30" "2868" "0" "2868" "0" "c.2868C>T" "r.(?)" "p.(Asn956=)" "" "0000537372" "00014698" "50" "2864" "0" "2864" "0" "c.2864G>A" "r.(?)" "p.(Arg955His)" "" "0000537373" "00014698" "30" "2864" "0" "2864" "0" "c.2864G>A" "r.(?)" "p.(Arg955His)" "" "0000537374" "00014698" "30" "2805" "0" "2805" "0" "c.2805C>T" "r.(?)" "p.(Pro935=)" "" "0000537375" "00014698" "30" "2772" "0" "2772" "0" "c.2772C>T" "r.(?)" "p.(Asp924=)" "" "0000537376" "00014698" "10" "2769" "0" "2769" "0" "c.2769A>G" "r.(?)" "p.(Thr923=)" "" "0000537377" "00014698" "30" "2740" "14" "2740" "14" "c.2740+14C>T" "r.(=)" "p.(=)" "" "0000537378" "00014698" "10" "2740" "12" "2740" "12" "c.2740+12C>T" "r.(=)" "p.(=)" "" "0000537380" "00014698" "30" "2691" "0" "2691" "0" "c.2691C>T" "r.(?)" "p.(Ala897=)" "" "0000537381" "00014698" "50" "2665" "0" "2665" "0" "c.2665G>A" "r.(?)" "p.(Gly889Ser)" "" "0000537382" "00014698" "10" "2664" "0" "2664" "0" "c.2664C>T" "r.(?)" "p.(His888=)" "" "0000537383" "00014698" "10" "2664" "0" "2664" "0" "c.2664C>T" "r.(?)" "p.(His888=)" "" "0000537384" "00014698" "50" "2643" "0" "2643" "0" "c.2643C>T" "r.(?)" "p.(Gly881=)" "" "0000537385" "00014698" "50" "2617" "0" "2617" "0" "c.2617T>C" "r.(?)" "p.(Cys873Arg)" "" "0000537386" "00014698" "50" "2614" "0" "2614" "0" "c.2614G>A" "r.(?)" "p.(Glu872Lys)" "" "0000537388" "00014698" "10" "2588" "-4" "2588" "-4" "c.2588-4G>A" "r.spl?" "p.?" "" "0000537389" "00014698" "10" "2587" "20" "2587" "20" "c.2587+20G>A" "r.(=)" "p.(=)" "" "0000537390" "00014698" "30" "2542" "0" "2542" "0" "c.2542G>A" "r.(?)" "p.(Glu848Lys)" "" "0000537391" "00014698" "10" "2542" "0" "2542" "0" "c.2542G>A" "r.(?)" "p.(Glu848Lys)" "" "0000537392" "00014698" "30" "2542" "0" "2542" "0" "c.2542G>A" "r.(?)" "p.(Glu848Lys)" "" "0000537393" "00014698" "30" "2542" "0" "2542" "0" "c.2542G>A" "r.(?)" "p.(Glu848Lys)" "" "0000537394" "00014698" "10" "2467" "21" "2467" "21" "c.2467+21G>A" "r.(=)" "p.(=)" "" "0000537395" "00014698" "50" "2464" "0" "2464" "0" "c.2464A>G" "r.(?)" "p.(Thr822Ala)" "" "0000537396" "00014698" "50" "2387" "0" "2387" "0" "c.2387C>T" "r.(?)" "p.(Ala796Val)" "" "0000537397" "00014698" "30" "2354" "-4" "2354" "-4" "c.2354-4C>T" "r.spl?" "p.?" "" "0000537398" "00014698" "30" "2353" "14" "2353" "14" "c.2353+14G>A" "r.(=)" "p.(=)" "" "0000537399" "00014698" "30" "2325" "0" "2325" "0" "c.2325C>T" "r.(?)" "p.(Tyr775=)" "" "0000537401" "00014698" "10" "2265" "0" "2265" "0" "c.2265T>C" "r.(?)" "p.(Asn755=)" "" "0000537402" "00014698" "30" "2207" "15" "2207" "15" "c.2207+15C>T" "r.(=)" "p.(=)" "" "0000537403" "00014698" "30" "2207" "15" "2207" "15" "c.2207+15C>T" "r.(=)" "p.(=)" "" "0000537406" "00014698" "30" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Glu694Lys)" "" "0000537407" "00014698" "30" "2049" "0" "2049" "0" "c.2049G>A" "r.(?)" "p.(Ala683=)" "" "0000537408" "00014698" "50" "2044" "0" "2044" "0" "c.2044T>C" "r.(?)" "p.(Cys682Arg)" "" "0000537409" "00014698" "30" "2014" "16" "2014" "16" "c.2014+16C>T" "r.(=)" "p.(=)" "" "0000537410" "00014698" "50" "2003" "0" "2003" "0" "c.2003C>T" "r.(?)" "p.(Pro668Leu)" "" "0000537411" "00014698" "50" "1981" "0" "1981" "0" "c.1981G>A" "r.(?)" "p.(Gly661Ser)" "" "0000537412" "00014698" "50" "1981" "0" "1981" "0" "c.1981G>A" "r.(?)" "p.(Gly661Ser)" "" "0000537413" "00014698" "50" "1972" "0" "1972" "0" "c.1972A>G" "r.(?)" "p.(Lys658Glu)" "" "0000537414" "00014698" "30" "1869" "0" "1869" "0" "c.1869C>T" "r.(?)" "p.(Asn623=)" "" "0000537415" "00014698" "50" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Arg621His)" "" "0000537416" "00014698" "30" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Arg621His)" "" "0000537417" "00014698" "30" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Arg621His)" "" "0000537418" "00014698" "30" "1842" "0" "1842" "0" "c.1842C>T" "r.(?)" "p.(His614=)" "" "0000537419" "00014698" "50" "1838" "0" "1838" "0" "c.1838G>A" "r.(?)" "p.(Arg613His)" "" "0000537420" "00014698" "50" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Glu601Lys)" "" "0000537421" "00014698" "30" "1788" "0" "1788" "0" "c.1788G>A" "r.(?)" "p.(Thr596=)" "" "0000537422" "00014698" "50" "1774" "0" "1774" "0" "c.1774C>T" "r.(?)" "p.(Arg592Cys)" "" "0000537423" "00014698" "50" "1753" "0" "1753" "0" "c.1753G>A" "r.(?)" "p.(Ala585Thr)" "" "0000537424" "00014698" "30" "1746" "0" "1746" "0" "c.1746C>T" "r.(?)" "p.(Asp582=)" "" "0000537425" "00014698" "30" "1712" "0" "1712" "0" "c.1712A>C" "r.(?)" "p.(Asp571Ala)" "" "0000537426" "00014698" "10" "1670" "-9" "1670" "-9" "c.1670-9A>G" "r.(=)" "p.(=)" "" "0000537427" "00014698" "30" "1670" "-10" "1670" "-10" "c.1670-10C>T" "r.(=)" "p.(=)" "" "0000537428" "00014698" "30" "1670" "-19" "1670" "-19" "c.1670-19C>T" "r.(=)" "p.(=)" "" "0000537429" "00014698" "30" "1670" "-21" "1670" "-21" "c.1670-21C>G" "r.(=)" "p.(=)" "" "0000537430" "00014698" "10" "1669" "9" "1669" "9" "c.1669+9T>C" "r.(=)" "p.(=)" "" "0000537431" "00014698" "10" "1669" "9" "1669" "9" "c.1669+9T>C" "r.(=)" "p.(=)" "" "0000537432" "00014698" "10" "1665" "0" "1665" "0" "c.1665G>A" "r.(?)" "p.(Thr555=)" "" "0000537433" "00014698" "10" "1635" "0" "1635" "0" "c.1635C>T" "r.(?)" "p.(Asp545=)" "" "0000537434" "00014698" "10" "1635" "0" "1635" "0" "c.1635C>T" "r.(?)" "p.(Asp545=)" "" "0000537435" "00014698" "30" "1556" "-9" "1556" "-9" "c.1556-9C>T" "r.(=)" "p.(=)" "" "0000537436" "00014698" "30" "1555" "19" "1555" "19" "c.1555+19C>T" "r.(=)" "p.(=)" "" "0000537437" "00014698" "30" "1555" "11" "1555" "11" "c.1555+11C>T" "r.(=)" "p.(=)" "" "0000537438" "00014698" "10" "1555" "10" "1555" "10" "c.1555+10A>G" "r.(=)" "p.(=)" "" "0000537439" "00014698" "70" "1537" "0" "1537" "0" "c.1537del" "r.(?)" "p.(Gln513SerfsTer118)" "" "0000537440" "00014698" "50" "1486" "0" "1486" "0" "c.1486A>T" "r.(?)" "p.(Ser496Cys)" "" "0000537441" "00014698" "30" "1442" "-36" "1442" "-36" "c.1442-36C>T" "r.(=)" "p.(=)" "" "0000537442" "00014698" "10" "1441" "7" "1441" "7" "c.1441+7C>T" "r.(=)" "p.(=)" "" "0000537443" "00014698" "50" "1441" "5" "1441" "5" "c.1441+5G>A" "r.spl?" "p.?" "" "0000537444" "00014698" "30" "1407" "0" "1407" "0" "c.1407C>T" "r.(?)" "p.(Asp469=)" "" "0000537445" "00014698" "30" "1245" "0" "1245" "0" "c.1245G>A" "r.(?)" "p.(Glu415=)" "" "0000537446" "00014698" "30" "1245" "0" "1245" "0" "c.1245G>A" "r.(?)" "p.(Glu415=)" "" "0000537447" "00014698" "30" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Thr405Met)" "" "0000537448" "00014698" "50" "1205" "0" "1205" "0" "c.1205C>T" "r.(?)" "p.(Ser402Leu)" "" "0000537449" "00014698" "30" "1205" "0" "1205" "0" "c.1205C>T" "r.(?)" "p.(Ser402Leu)" "" "0000537450" "00014698" "30" "1119" "0" "1119" "0" "c.1119C>T" "r.(?)" "p.(Asn373=)" "" "0000537451" "00014698" "10" "1100" "-16" "1100" "-16" "c.1100-16G>C" "r.(=)" "p.(=)" "" "0000537452" "00014698" "10" "1100" "-140" "1100" "-140" "c.1100-140G>A" "r.(=)" "p.(=)" "" "0000537453" "00014698" "50" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Gly347Ser)" "" "0000537454" "00014698" "70" "971" "0" "971" "0" "c.971T>A" "r.(?)" "p.(Val324Asp)" "" "0000537455" "00014698" "10" "873" "0" "873" "0" "c.873C>T" "r.(?)" "p.(Tyr291=)" "" "0000537456" "00014698" "10" "852" "0" "852" "0" "c.852G>A" "r.(?)" "p.(Pro284=)" "" "0000537457" "00014698" "30" "750" "0" "750" "0" "c.750C>A" "r.(?)" "p.(Thr250=)" "" "0000537458" "00014698" "30" "742" "40" "742" "40" "c.742+40C>T" "r.(=)" "p.(=)" "" "0000537459" "00014698" "50" "631" "0" "631" "0" "c.631A>G" "r.(?)" "p.(Thr211Ala)" "" "0000537460" "00014698" "30" "621" "0" "621" "0" "c.621C>T" "r.(?)" "p.(Arg207=)" "" "0000537461" "00014698" "70" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Arg190Cys)" "" "0000537462" "00014698" "30" "505" "0" "505" "0" "c.505A>G" "r.(?)" "p.(Ser169Gly)" "" "0000537463" "00014698" "30" "403" "40" "403" "40" "c.403+40G>C" "r.(=)" "p.(=)" "" "0000537464" "00014698" "30" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128His)" "" "0000537465" "00014698" "30" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Thr123Met)" "" "0000537466" "00014698" "10" "312" "0" "312" "0" "c.312T>C" "r.(?)" "p.(Asn104=)" "" "0000537467" "00014698" "30" "304" "0" "304" "0" "c.304C>A" "r.(?)" "p.(Leu102Met)" "" "0000537468" "00014698" "30" "230" "0" "230" "0" "c.230T>G" "r.(?)" "p.(Val77Gly)" "" "0000537469" "00014698" "30" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(Pro55=)" "" "0000537470" "00014698" "30" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(Pro55=)" "" "0000537471" "00014698" "30" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Phe52=)" "" "0000537472" "00014698" "90" "140" "3" "140" "3" "c.140+3G>C" "r.spl?" "p.?" "" "0000537473" "00014698" "30" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Pro22Ser)" "" "0000537475" "00014698" "30" "18" "0" "18" "0" "c.18G>T" "r.(?)" "p.(Ala6=)" "" "0000537476" "00014698" "30" "17" "0" "17" "0" "c.17C>T" "r.(?)" "p.(Ala6Val)" "" "0000611995" "00014698" "30" "7449" "0" "7449" "0" "c.7449G>A" "r.(?)" "p.(Thr2483=)" "" "0000611996" "00014698" "10" "7449" "0" "7449" "0" "c.7449G>A" "r.(?)" "p.(Thr2483=)" "" "0000611997" "00014698" "50" "7397" "0" "7397" "0" "c.7397C>T" "r.(?)" "p.(Thr2466Met)" "" "0000611998" "00014698" "30" "7046" "0" "7046" "0" "c.7046C>T" "r.(?)" "p.(Pro2349Leu)" "" "0000611999" "00014698" "50" "7028" "0" "7028" "0" "c.7028A>T" "r.(?)" "p.(Gln2343Leu)" "" "0000612000" "00014698" "30" "6714" "0" "6714" "0" "c.6714C>T" "r.(?)" "p.(Pro2238=)" "" "0000612001" "00014698" "30" "6521" "0" "6521" "0" "c.6521A>G" "r.(?)" "p.(Lys2174Arg)" "" "0000612002" "00014698" "30" "6298" "0" "6298" "0" "c.6298A>G" "r.(?)" "p.(Ile2100Val)" "" "0000612003" "00014698" "30" "5718" "0" "5718" "0" "c.5718G>A" "r.(?)" "p.(Ala1906=)" "" "0000612004" "00014698" "50" "5387" "0" "5387" "0" "c.5387C>A" "r.(?)" "p.(Pro1796His)" "" "0000612005" "00014698" "30" "5183" "0" "5183" "0" "c.5183C>T" "r.(?)" "p.(Pro1728Leu)" "" "0000612006" "00014698" "30" "4985" "0" "4985" "0" "c.4985G>A" "r.(?)" "p.(Arg1662Gln)" "" "0000612007" "00014698" "30" "4416" "0" "4416" "0" "c.4416C>T" "r.(?)" "p.(Cys1472=)" "" "0000612008" "00014698" "50" "3954" "0" "3954" "0" "c.3954T>A" "r.(?)" "p.(Asn1318Lys)" "" "0000612009" "00014698" "30" "3900" "0" "3900" "0" "c.3900C>T" "r.(?)" "p.(Thr1300=)" "" "0000612010" "00014698" "30" "3777" "0" "3777" "0" "c.3777C>T" "r.(?)" "p.(Phe1259=)" "" "0000612011" "00014698" "30" "3724" "0" "3724" "0" "c.3724G>A" "r.(?)" "p.(Gly1242Ser)" "" "0000612012" "00014698" "50" "3684" "0" "3684" "0" "c.3684dup" "r.(?)" "p.(Val1229ArgfsTer2)" "" "0000612013" "00014698" "30" "3510" "3" "3510" "3" "c.3510+3G>A" "r.spl?" "p.?" "" "0000612014" "00014698" "30" "3325" "9" "3325" "9" "c.3325+9C>A" "r.(=)" "p.(=)" "" "0000612015" "00014698" "30" "3162" "0" "3162" "0" "c.3162C>A" "r.(?)" "p.(Pro1054=)" "" "0000612016" "00014698" "50" "3001" "0" "3001" "0" "c.3001G>A" "r.(?)" "p.(Gly1001Ser)" "" "0000612017" "00014698" "30" "2675" "0" "2675" "0" "c.2675G>A" "r.(?)" "p.(Arg892His)" "" "0000612018" "00014698" "30" "2207" "10" "2207" "10" "c.2207+10G>A" "r.(=)" "p.(=)" "" "0000612019" "00014698" "50" "2093" "0" "2093" "0" "c.2093A>G" "r.(?)" "p.(Asn698Ser)" "" "0000612020" "00014698" "30" "1863" "0" "1863" "0" "c.1863C>T" "r.(?)" "p.(Arg621=)" "" "0000612022" "00014698" "90" "1017" "0" "1018" "0" "c.1017_1018del" "r.(?)" "p.(Ala340GlnfsTer12)" "" "0000612023" "00014698" "30" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(Thr293=)" "" "0000612024" "00014698" "50" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Gly192Arg)" "" "0000612025" "00014698" "30" "432" "0" "432" "0" "c.432C>T" "r.(?)" "p.(Cys144=)" "" "0000612026" "00014698" "50" "211" "0" "211" "0" "c.211G>C" "r.(?)" "p.(Ala71Pro)" "" "0000622217" "00014698" "30" "7244" "0" "7244" "0" "c.7244C>T" "r.(?)" "p.(Pro2415Leu)" "" "0000622218" "00014698" "50" "6899" "0" "6899" "0" "c.6899G>A" "r.(?)" "p.(Gly2300Glu)" "" "0000622219" "00014698" "30" "6105" "0" "6105" "0" "c.6105C>T" "r.(?)" "p.(Ala2035=)" "" "0000622220" "00014698" "50" "5901" "0" "5901" "0" "c.5901G>A" "r.(?)" "p.(Ala1967=)" "" "0000622221" "00014698" "50" "4492" "0" "4492" "0" "c.4492A>G" "r.(?)" "p.(Lys1498Glu)" "" "0000622222" "00014698" "10" "2691" "0" "2691" "0" "c.2691C>T" "r.(?)" "p.(Ala897=)" "" "0000622223" "00014698" "50" "2428" "0" "2428" "0" "c.2428G>A" "r.(?)" "p.(Val810Ile)" "" "0000622224" "00014698" "50" "2093" "0" "2093" "0" "c.2093A>G" "r.(?)" "p.(Asn698Ser)" "" "0000622225" "00014698" "50" "1987" "0" "1987" "0" "c.1987G>A" "r.(?)" "p.(Glu663Lys)" "" "0000622226" "00014698" "50" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Glu601Lys)" "" "0000622227" "00014698" "50" "1661" "0" "1661" "0" "c.1661G>A" "r.(?)" "p.(Cys554Tyr)" "" "0000622228" "00014698" "30" "1543" "0" "1543" "0" "c.1543G>C" "r.(?)" "p.(Glu515Gln)" "" "0000622229" "00014698" "30" "1245" "0" "1245" "0" "c.1245G>A" "r.(?)" "p.(Glu415=)" "" "0000622230" "00014698" "30" "432" "0" "432" "0" "c.432C>T" "r.(?)" "p.(Cys144=)" "" "0000652665" "00014698" "10" "4823" "0" "4823" "0" "c.4823G>A" "r.(?)" "p.(Arg1608His)" "" "0000652666" "00014698" "50" "4262" "0" "4262" "0" "c.4262A>G" "r.(?)" "p.(Asn1421Ser)" "" "0000652667" "00014698" "50" "3970" "0" "3970" "0" "c.3970G>A" "r.(?)" "p.(Val1324Met)" "" "0000652668" "00014698" "10" "3836" "0" "3836" "0" "c.3836G>A" "r.(?)" "p.(Arg1279His)" "" "0000652669" "00014698" "50" "1295" "0" "1295" "0" "c.1295C>T" "r.(?)" "p.(Thr432Met)" "" "0000656296" "00014698" "30" "7313" "0" "7313" "0" "c.7313C>T" "r.(?)" "p.(Pro2438Leu)" "" "0000656297" "00014698" "30" "6907" "0" "6907" "0" "c.6907A>G" "r.(?)" "p.(Ser2303Gly)" "" "0000656298" "00014698" "30" "6750" "0" "6750" "0" "c.6750G>A" "r.(?)" "p.(Ala2250=)" "" "0000656299" "00014698" "30" "3694" "0" "3694" "0" "c.3694G>A" "r.(?)" "p.(Val1232Met)" "" "0000656300" "00014698" "30" "2970" "-9" "2970" "-9" "c.2970-9C>T" "r.(=)" "p.(=)" "" "0000656301" "00014698" "30" "2741" "-179" "2741" "-179" "c.2741-179G>C" "r.(=)" "p.(=)" "" "0000656302" "00014698" "30" "2467" "96" "2467" "96" "c.2467+96T>G" "r.(=)" "p.(=)" "" "0000656303" "00014698" "30" "2467" "90" "2467" "90" "c.2467+90A>G" "r.(=)" "p.(=)" "" "0000656304" "00014698" "30" "2467" "28" "2467" "28" "c.2467+28A>G" "r.(=)" "p.(=)" "" "0000656305" "00014698" "30" "2015" "-256" "2015" "-256" "c.2015-256C>A" "r.(=)" "p.(=)" "" "0000656306" "00014698" "30" "1670" "-19" "1670" "-19" "c.1670-19C>T" "r.(=)" "p.(=)" "" "0000656307" "00014698" "30" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Thr123Met)" "" "0000667586" "00014698" "70" "3052" "0" "3052" "0" "c.3052del" "r.(?)" "p.(Cys1018Alafs*161)" "" "0000670055" "00014698" "10" "3836" "0" "3836" "0" "c.3836G>A" "r.(?)" "p.(Arg1279His)" "" "0000675205" "00014698" "70" "6180" "1" "6180" "1" "c.6180+1G>A" "r.spl?" "p.?" "" "0000678597" "00014698" "50" "6872" "0" "6872" "0" "c.6872G>A" "r.(?)" "p.(Gly2291Glu)" "" "0000678598" "00014698" "10" "6454" "0" "6454" "0" "c.6454G>C" "r.(?)" "p.(Gly2152Arg)" "" "0000678599" "00014698" "30" "6181" "-102" "6181" "-102" "c.6181-102G>A" "r.(=)" "p.(=)" "" "0000678600" "00014698" "30" "6083" "-4" "6083" "-4" "c.6083-4G>A" "r.spl?" "p.?" "" "0000678601" "00014698" "30" "5638" "19" "5638" "19" "c.5638+19A>G" "r.(=)" "p.(=)" "" "0000678602" "00014698" "50" "5350" "0" "5350" "0" "c.5350C>T" "r.(?)" "p.(Arg1784Trp)" "" "0000678603" "00014698" "50" "5215" "0" "5215" "0" "c.5215G>A" "r.(?)" "p.(Val1739Met)" "" "0000678604" "00014698" "50" "4984" "0" "4984" "0" "c.4984C>T" "r.(?)" "p.(Arg1662Trp)" "" "0000678605" "00014698" "50" "4654" "0" "4654" "0" "c.4654G>A" "r.(?)" "p.(Ala1552Thr)" "" "0000678606" "00014698" "50" "4031" "0" "4031" "0" "c.4031C>T" "r.(?)" "p.(Thr1344Met)" "" "0000678607" "00014698" "70" "3794" "0" "3795" "0" "c.3794_3795del" "r.(?)" "p.(Glu1265GlyfsTer25)" "" "0000678608" "00014698" "30" "3780" "0" "3780" "0" "c.3780G>C" "r.(?)" "p.(Val1260=)" "" "0000678609" "00014698" "90" "3177" "0" "3177" "0" "c.3177del" "r.(?)" "p.(Val1060CysfsTer119)" "" "0000678610" "00014698" "50" "3001" "0" "3001" "0" "c.3001G>A" "r.(?)" "p.(Gly1001Ser)" "" "0000678611" "00014698" "50" "2263" "0" "2265" "0" "c.2263_2265del" "r.(?)" "p.(Asn755del)" "" "0000678612" "00014698" "30" "1670" "-10" "1670" "-10" "c.1670-10C>T" "r.(=)" "p.(=)" "" "0000678613" "00014698" "10" "1635" "0" "1635" "0" "c.1635C>T" "r.(?)" "p.(Asp545=)" "" "0000678614" "00014698" "30" "1100" "-14" "1100" "-14" "c.1100-14C>T" "r.(=)" "p.(=)" "" "0000678615" "00014698" "30" "453" "0" "453" "0" "c.453C>T" "r.(?)" "p.(Asn151=)" "" "0000678616" "00014698" "30" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Pro22Ser)" "" "0000690463" "00014698" "30" "7432" "0" "7432" "0" "c.7432G>A" "r.(?)" "p.(Ala2478Thr)" "" "0000690464" "00014698" "30" "7425" "0" "7425" "0" "c.7425C>T" "r.(?)" "p.(Pro2475=)" "" "0000690465" "00014698" "30" "6980" "0" "6980" "0" "c.6980G>A" "r.(?)" "p.(Arg2327Gln)" "" "0000690466" "00014698" "10" "6685" "0" "6685" "0" "c.6685G>A" "r.(?)" "p.(Val2229Met)" "" "0000690467" "00014698" "50" "6481" "0" "6481" "0" "c.6481C>T" "r.(?)" "p.(Pro2161Ser)" "" "0000690468" "00014698" "10" "5011" "0" "5011" "0" "c.5011G>A" "r.(?)" "p.(Val1671Ile)" "" "0000690469" "00014698" "30" "4917" "0" "4917" "0" "c.4917C>T" "r.(?)" "p.(Ala1639=)" "" "0000690470" "00014698" "30" "4635" "0" "4635" "0" "c.4635C>T" "r.(?)" "p.(Cys1545=)" "" "0000690471" "00014698" "30" "4308" "0" "4308" "0" "c.4308C>T" "r.(?)" "p.(Ala1436=)" "" "0000690472" "00014698" "30" "4095" "0" "4095" "0" "c.4095C>T" "r.(?)" "p.(Ser1365=)" "" "0000690473" "00014698" "30" "3345" "0" "3345" "0" "c.3345G>T" "r.(?)" "p.(Leu1115=)" "" "0000690474" "00014698" "10" "3315" "0" "3315" "0" "c.3315G>T" "r.(?)" "p.(Ala1105=)" "" "0000690475" "00014698" "50" "3121" "0" "3121" "0" "c.3121G>A" "r.(?)" "p.(Gly1041Ser)" "" "0000690476" "00014698" "30" "3011" "0" "3011" "0" "c.3011C>T" "r.(?)" "p.(Ser1004Leu)" "" "0000690477" "00014698" "50" "2983" "0" "2983" "0" "c.2983G>A" "r.(?)" "p.(Gly995Ser)" "" "0000690478" "00014698" "30" "2969" "87" "2969" "87" "c.2969+87G>A" "r.(=)" "p.(=)" "" "0000690479" "00014698" "50" "1981" "0" "1981" "0" "c.1981G>A" "r.(?)" "p.(Gly661Ser)" "" "0000690480" "00014698" "30" "1555" "273" "1555" "273" "c.1555+273G>C" "r.(=)" "p.(=)" "" "0000690481" "00014698" "30" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(Thr293=)" "" "0000690482" "00014698" "30" "597" "0" "597" "0" "c.597C>T" "r.(?)" "p.(Val199=)" "" "0000693912" "00014698" "50" "7115" "0" "7115" "0" "c.7115G>A" "r.(?)" "p.(Arg2372Gln)" "" "0000710715" "00014698" "50" "3859" "0" "3859" "0" "c.3859C>T" "r.(?)" "p.(Arg1287Cys)" "" "0000722388" "00014698" "50" "7448" "0" "7448" "0" "c.7448C>T" "r.(?)" "p.(Thr2483Met)" "" "0000722389" "00014698" "30" "6980" "0" "6980" "0" "c.6980G>A" "r.(?)" "p.(Arg2327Gln)" "" "0000722390" "00014698" "70" "6897" "0" "6903" "0" "c.6897_6903del" "r.(?)" "p.(Gly2300Profs*3)" "" "0000722391" "00014698" "30" "6429" "0" "6429" "0" "c.6429C>T" "r.(?)" "p.(Asn2143=)" "" "0000722392" "00014698" "50" "6355" "0" "6355" "0" "c.6355G>T" "r.(?)" "p.(Val2119Leu)" "" "0000722393" "00014698" "30" "6105" "0" "6105" "0" "c.6105C>T" "r.(?)" "p.(Ala2035=)" "" "0000722394" "00014698" "50" "5944" "0" "5944" "0" "c.5944C>T" "r.(?)" "p.(Arg1982Trp)" "" "0000722395" "00014698" "30" "5639" "-384" "5639" "-384" "c.5639-384G>A" "r.(=)" "p.(=)" "" "0000722396" "00014698" "30" "5222" "0" "5222" "0" "c.5222C>T" "r.(?)" "p.(Ala1741Val)" "" "0000722397" "00014698" "50" "5176" "0" "5176" "0" "c.5176G>A" "r.(?)" "p.(Val1726Met)" "" "0000722398" "00014698" "30" "4356" "0" "4356" "0" "c.4356C>T" "r.(?)" "p.(Pro1452=)" "" "0000722399" "00014698" "50" "4078" "0" "4078" "0" "c.4078G>A" "r.(?)" "p.(Gly1360Ser)" "" "0000722400" "00014698" "50" "4014" "3" "4014" "3" "c.4014+3A>G" "r.spl?" "p.?" "" "0000722401" "00014698" "10" "3836" "0" "3836" "0" "c.3836G>A" "r.(?)" "p.(Arg1279His)" "" "0000722402" "00014698" "30" "3643" "10" "3643" "10" "c.3643+10G>A" "r.(=)" "p.(=)" "" "0000722403" "00014698" "30" "2805" "0" "2805" "0" "c.2805C>T" "r.(?)" "p.(Pro935=)" "" "0000722404" "00014698" "90" "2653" "0" "2653" "0" "c.2653C>T" "r.(?)" "p.(Gln885*)" "" "0000722405" "00014698" "30" "2520" "0" "2520" "0" "c.2520C>T" "r.(?)" "p.(Asn840=)" "" "0000722406" "00014698" "30" "2495" "0" "2495" "0" "c.2495C>T" "r.(?)" "p.(Pro832Leu)" "" "0000722407" "00014698" "30" "2353" "14" "2353" "14" "c.2353+14G>A" "r.(=)" "p.(=)" "" "0000722408" "00014698" "50" "2003" "0" "2003" "0" "c.2003C>T" "r.(?)" "p.(Pro668Leu)" "" "0000722409" "00014698" "90" "1855" "0" "1855" "0" "c.1855C>T" "r.(?)" "p.(Gln619Ter)" "" "0000722410" "00014698" "50" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Glu601Lys)" "" "0000722411" "00014698" "50" "1510" "0" "1510" "0" "c.1510C>T" "r.(?)" "p.(Arg504Cys)" "" "0000722412" "00014698" "50" "1205" "0" "1205" "0" "c.1205C>T" "r.(?)" "p.(Ser402Leu)" "" "0000722413" "00014698" "30" "866" "-157" "866" "-157" "c.866-157G>A" "r.(=)" "p.(=)" "" "0000722414" "00014698" "50" "839" "0" "839" "0" "c.839A>G" "r.(?)" "p.(Asn280Ser)" "" "0000722415" "00014698" "30" "141" "-293" "141" "-293" "c.141-293G>T" "r.(=)" "p.(=)" "" "0000803986" "00014698" "50" "7223" "0" "7223" "0" "c.7223T>C" "r.(?)" "p.(Leu2408Pro)" "" "0000803987" "00014698" "50" "6577" "0" "6577" "0" "c.6577A>G" "r.(?)" "p.(Ser2193Gly)" "" "0000803988" "00014698" "50" "6577" "0" "6577" "0" "c.6577A>G" "r.(?)" "p.(Ser2193Gly)" "" "0000803989" "00014698" "30" "6375" "0" "6375" "0" "c.6375C>T" "r.(?)" "p.(His2125=)" "" "0000803990" "00014698" "30" "5373" "0" "5373" "0" "c.5373C>T" "r.(?)" "p.(Ser1791=)" "" "0000803991" "00014698" "50" "4963" "0" "4963" "0" "c.4963G>C" "r.(?)" "p.(Gly1655Arg)" "" "0000803992" "00014698" "50" "4639" "0" "4639" "0" "c.4639C>G" "r.(?)" "p.(Gln1547Glu)" "" "0000803993" "00014698" "30" "4443" "0" "4443" "0" "c.4443C>T" "r.(?)" "p.(Leu1481=)" "" "0000803994" "00014698" "50" "3853" "0" "3853" "0" "c.3853G>A" "r.(?)" "p.(Val1285Met)" "" "0000803995" "00014698" "50" "3598" "0" "3598" "0" "c.3598G>A" "r.(?)" "p.(Asp1200Asn)" "" "0000803996" "00014698" "30" "3288" "0" "3288" "0" "c.3288G>C" "r.(?)" "p.(Val1096=)" "" "0000803997" "00014698" "50" "3271" "0" "3271" "0" "c.3271G>A" "r.(?)" "p.(Gly1091Ser)" "" "0000803998" "00014698" "50" "2414" "0" "2414" "0" "c.2414C>G" "r.(?)" "p.(Thr805Arg)" "" "0000803999" "00014698" "50" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Gly766Ser)" "" "0000804000" "00014698" "50" "2003" "0" "2003" "0" "c.2003C>T" "r.(?)" "p.(Pro668Leu)" "" "0000804001" "00014698" "30" "1407" "0" "1407" "0" "c.1407C>T" "r.(?)" "p.(Asp469=)" "" "0000804002" "00014698" "50" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "" "0000804003" "00014698" "30" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Leu32=)" "" "0000810847" "00014698" "50" "775" "0" "775" "0" "c.775G>A" "r.(?)" "p.(Asp259Asn)" "" "0000831704" "00014698" "70" "2123" "0" "2123" "0" "c.2123A>G" "r.(?)" "p.(Tyr708Cys)" "" "0000831730" "00014698" "90" "0" "0" "0" "0" "c.-1*1627{2}" "r.?" "p.?" "_1_34_" "0000831783" "00014698" "50" "631" "0" "631" "0" "c.631A>G" "r.(?)" "p.(Thr211Ala)" "" "0000831784" "00014698" "50" "1838" "0" "1838" "0" "c.1838G>A" "r.(?)" "p.(Arg613His)" "" "0000831785" "00014698" "50" "2542" "0" "2542" "0" "c.2542G>A" "r.(?)" "p.(Glu848Lys)" "" "0000831786" "00014698" "50" "2728" "0" "2728" "0" "c.2728G>A" "r.(?)" "p.(Asp910Asn)" "" "0000831787" "00014698" "50" "3001" "0" "3001" "0" "c.3001G>A" "r.(?)" "p.(Gly1001Ser)" "" "0000831788" "00014698" "50" "3631" "0" "3631" "0" "c.3631C>T" "r.(?)" "p.(Arg1211Trp)" "" "0000831789" "00014698" "50" "4183" "0" "4183" "0" "c.4183A>G" "r.(?)" "p.(Asn1395Asp)" "" "0000831790" "00014698" "50" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Ala2044Thr)" "" "0000831791" "00014698" "50" "6924" "0" "6924" "0" "c.6924C>T" "r.spl?" "p.(Cys2308=)" "" "0000832158" "00014698" "50" "3767" "0" "3767" "0" "c.3767C>T" "r.(?)" "p.(Pro1256Leu)" "" "0000852185" "00014698" "50" "5497" "0" "5497" "0" "c.5497G>C" "r.(?)" "p.(Asp1833His)" "" "0000852186" "00014698" "50" "5155" "0" "5155" "0" "c.5155G>A" "r.(?)" "p.(Glu1719Lys)" "" "0000852187" "00014698" "30" "4049" "0" "4049" "0" "c.4049G>T" "r.(?)" "p.(Arg1350Leu)" "" "0000852188" "00014698" "50" "3098" "0" "3098" "0" "c.3098G>A" "r.(?)" "p.(Gly1033Asp)" "" "0000852189" "00014698" "50" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Cys339Tyr)" "" "0000852190" "00014698" "30" "750" "0" "750" "0" "c.750C>T" "r.(?)" "p.(Thr250=)" "" "0000852191" "00014698" "30" "78" "0" "78" "0" "c.78G>A" "r.(?)" "p.(Gln26=)" "" "0000861571" "00014698" "50" "6359" "0" "6359" "0" "c.6359G>A" "r.(?)" "p.(Arg2120His)" "" "0000861572" "00014698" "30" "5193" "0" "5193" "0" "c.5193G>A" "r.(?)" "p.(Pro1731=)" "" "0000861573" "00014698" "10" "4129" "0" "4129" "0" "c.4129C>T" "r.(?)" "p.(Pro1377Ser)" "" "0000861574" "00014698" "30" "2772" "0" "2772" "0" "c.2772C>T" "r.(?)" "p.(Asp924=)" "" "0000861575" "00014698" "50" "2002" "0" "2002" "0" "c.2002C>G" "r.(?)" "p.(Pro668Ala)" "" "0000888737" "00014698" "50" "7574" "0" "7574" "0" "c.7574C>T" "r.(?)" "p.(Pro2525Leu)" "" "0000888738" "00014698" "90" "7455" "0" "7455" "0" "c.7455dup" "r.(?)" "p.(Ser2486Leufs*21)" "" "0000888739" "00014698" "70" "6985" "0" "6986" "0" "c.6985_6986del" "r.(?)" "p.(Ser2329Cysfs*24)" "" "0000888740" "00014698" "70" "5934" "1" "5934" "1" "c.5934+1G>A" "r.spl?" "p.?" "" "0000888741" "00014698" "50" "5227" "0" "5227" "0" "c.5227G>A" "r.(?)" "p.(Ala1743Thr)" "" "0000888742" "00014698" "30" "5118" "0" "5118" "0" "c.5118C>T" "r.(?)" "p.(Leu1706=)" "" "0000888743" "00014698" "30" "4014" "0" "4014" "0" "c.4014G>A" "r.(?)" "p.(Ala1338=)" "" "0000888744" "00014698" "50" "3101" "0" "3101" "0" "c.3101G>A" "r.(?)" "p.(Gly1034Asp)" "" "0000888745" "00014698" "90" "2774" "0" "2778" "0" "c.2774_2778dup" "r.(?)" "p.(Asn927Alafs*254)" "" "0000888746" "00014698" "50" "2347" "0" "2347" "0" "c.2347T>C" "r.(?)" "p.(Phe783Leu)" "" "0000888747" "00014698" "30" "2148" "0" "2148" "0" "c.2148G>A" "r.(?)" "p.(Glu716=)" "" "0000888748" "00014698" "50" "1631" "0" "1631" "0" "c.1631T>C" "r.(?)" "p.(Leu544Pro)" "" "0000888749" "00014698" "50" "1373" "0" "1373" "0" "c.1373C>T" "r.(?)" "p.(Ser458Leu)" "" "0000888750" "00014698" "30" "839" "0" "839" "0" "c.839A>G" "r.(?)" "p.(Asn280Ser)" "" "0000888751" "00014698" "50" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Glu242Lys)" "" "0000888752" "00014698" "30" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(Gly49=)" "" "0000909262" "00014698" "70" "1669" "1" "1669" "1" "c.1669+1G>A" "r.(?)" "p.(?)" "" "0000913126" "00014698" "50" "5387" "0" "5387" "0" "c.5387C>A" "r.(?)" "p.(Pro1796His)" "" "0000913127" "00014698" "30" "4930" "0" "4930" "0" "c.4930C>T" "r.(?)" "p.(Leu1644=)" "" "0000913128" "00014698" "30" "2467" "9" "2467" "9" "c.2467+9T>G" "r.(=)" "p.(=)" "" "0000913129" "00014698" "90" "865" "2" "865" "2" "c.865+2C>A" "r.spl?" "p.?" "" "0000927710" "00014698" "90" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Ter)" "" "0000929570" "00014698" "50" "6371" "0" "6371" "0" "c.6371T>C" "r.(?)" "p.(Leu2124Pro)" "" "0000929571" "00014698" "90" "36" "0" "36" "0" "c.36dup" "r.(?)" "p.(Leu13Alafs*17)" "" "0000949249" "00014698" "50" "7463" "0" "7463" "0" "c.7463A>G" "r.(?)" "p.(His2488Arg)" "" "0000949250" "00014698" "30" "4027" "0" "4027" "0" "c.4027G>A" "r.(?)" "p.(Ala1343Thr)" "" "0000949251" "00014698" "50" "2755" "0" "2755" "0" "c.2755G>A" "r.(?)" "p.(Gly919Arg)" "" "0000949252" "00014698" "30" "2018" "0" "2018" "0" "c.2018G>T" "r.(?)" "p.(Ser673Ile)" "" "0000965302" "00014698" "30" "7115" "0" "7115" "0" "c.7115G>A" "r.(?)" "p.(Arg2372Gln)" "" "0000965304" "00014698" "50" "5026" "0" "5026" "0" "c.5026G>A" "r.(?)" "p.(Val1676Ile)" "" "0000965305" "00014698" "50" "4252" "0" "4252" "0" "c.4252G>A" "r.(?)" "p.(Ala1418Thr)" "" "0000965306" "00014698" "50" "3835" "0" "3835" "0" "c.3835C>T" "r.(?)" "p.(Arg1279Cys)" "" "0000965308" "00014698" "50" "3104" "0" "3104" "0" "c.3104C>T" "r.(?)" "p.(Thr1035Ile)" "" "0000965309" "00014698" "50" "2692" "0" "2692" "0" "c.2692G>A" "r.(?)" "p.(Gly898Ser)" "" "0000965310" "00014698" "50" "2630" "0" "2630" "0" "c.2630C>T" "r.(?)" "p.(Pro877Leu)" "" "0000965312" "00014698" "30" "1787" "0" "1787" "0" "c.1787C>T" "r.(?)" "p.(Thr596Met)" "" "0000965313" "00014698" "30" "1389" "0" "1389" "0" "c.1389C>T" "r.(?)" "p.(Asn463=)" "" "0000978547" "00014698" "30" "7606" "0" "7606" "0" "c.7606G>A" "r.(?)" "p.(Val2536Ile)" "" "0000978548" "00014698" "30" "7235" "0" "7235" "0" "c.7235C>T" "r.(?)" "p.(Pro2412Leu)" "" "0000978549" "00014698" "30" "6991" "0" "6991" "0" "c.6991G>A" "r.(?)" "p.(Ala2331Thr)" "" "0000978550" "00014698" "30" "6980" "0" "6980" "0" "c.6980G>A" "r.(?)" "p.(Arg2327Gln)" "" "0000978551" "00014698" "30" "6285" "0" "6285" "0" "c.6285C>T" "r.(?)" "p.(Arg2095=)" "" "0000978552" "00014698" "50" "5990" "0" "5990" "0" "c.5990C>T" "r.(?)" "p.(Thr1997Met)" "" "0000978553" "00014698" "30" "5175" "0" "5175" "0" "c.5175C>T" "r.(?)" "p.(Thr1725=)" "" "0000978554" "00014698" "30" "4917" "0" "4917" "0" "c.4917C>T" "r.(?)" "p.(Ala1639=)" "" "0000978555" "00014698" "90" "4860" "0" "4860" "0" "c.4860C>G" "r.(?)" "p.(Tyr1620*)" "" "0000978556" "00014698" "30" "4587" "-5" "4587" "-5" "c.4587-5dup" "r.spl?" "p.?" "" "0000978557" "00014698" "30" "4374" "0" "4374" "0" "c.4374G>C" "r.(?)" "p.(=)" "" "0000978558" "00014698" "30" "4314" "0" "4314" "0" "c.4314C>T" "r.(?)" "p.(=)" "" "0000978559" "00014698" "50" "4130" "0" "4130" "0" "c.4130C>T" "r.(?)" "p.(Pro1377Leu)" "" "0000978560" "00014698" "30" "4056" "0" "4056" "0" "c.4056C>T" "r.(?)" "p.(=)" "" "0000978561" "00014698" "50" "3853" "0" "3853" "0" "c.3853G>A" "r.(?)" "p.(Val1285Met)" "" "0000978562" "00014698" "50" "3788" "0" "3788" "0" "c.3788G>A" "r.(?)" "p.(Arg1263His)" "" "0000978563" "00014698" "30" "3511" "-10" "3511" "-10" "c.3511-10G>A" "r.(=)" "p.(=)" "" "0000978564" "00014698" "30" "3294" "0" "3294" "0" "c.3294C>T" "r.(?)" "p.(Ser1098=)" "" "0000978565" "00014698" "50" "3271" "0" "3271" "0" "c.3271G>A" "r.(?)" "p.(Gly1091Ser)" "" "0000978566" "00014698" "50" "2674" "0" "2674" "0" "c.2674C>T" "r.(?)" "p.(Arg892Cys)" "" "0000978567" "00014698" "50" "2572" "0" "2572" "0" "c.2572C>G" "r.(?)" "p.(Pro858Ala)" "" "0000978568" "00014698" "30" "2207" "10" "2207" "10" "c.2207+10G>A" "r.(=)" "p.(=)" "" "0000978569" "00014698" "30" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Glu601Lys)" "" "0000978570" "00014698" "30" "1665" "0" "1665" "0" "c.1665G>A" "r.(?)" "p.(Thr555=)" "" "0000978571" "00014698" "30" "1295" "0" "1295" "0" "c.1295C>T" "r.(?)" "p.(Thr432Met)" "" "0000978572" "00014698" "30" "742" "139" "742" "139" "c.742+139C>T" "r.(=)" "p.(=)" "" "0000978573" "00014698" "50" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Ala105Thr)" "" "0000978574" "00014698" "50" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Leu9Serfs*24)" "" "0000987853" "00014698" "70" "2501" "0" "2502" "0" "c.2501_2502insT" "r.(?)" "p.(Ser836Glnfs*16)" "16" "0000997663" "00014698" "50" "7632" "0" "7632" "0" "c.7632G>C" "r.(?)" "p.(Gln2544His)" "" "0000997664" "00014698" "30" "7363" "0" "7363" "0" "c.7363A>G" "r.(?)" "p.(Thr2455Ala)" "" "0000997665" "00014698" "30" "6836" "0" "6836" "0" "c.6836C>T" "r.(?)" "p.(Ala2279Val)" "" "0000997666" "00014698" "50" "6259" "0" "6259" "0" "c.6259C>T" "r.(?)" "p.(Arg2087Trp)" "" "0000997667" "00014698" "50" "6193" "0" "6193" "0" "c.6193C>G" "r.(?)" "p.(Leu2065Val)" "" "0000997668" "00014698" "30" "5614" "0" "5614" "0" "c.5614A>G" "r.(?)" "p.(Met1872Val)" "" "0000997669" "00014698" "30" "5422" "0" "5422" "0" "c.5422G>A" "r.(?)" "p.(Asp1808Asn)" "" "0000997670" "00014698" "30" "5332" "0" "5332" "0" "c.5332G>C" "r.(?)" "p.(Ala1778Pro)" "" "0000997671" "00014698" "30" "5011" "0" "5011" "0" "c.5011G>A" "r.(?)" "p.(Val1671Ile)" "" "0000997672" "00014698" "30" "4586" "10" "4586" "10" "c.4586+10C>T" "r.(=)" "p.(=)" "" "0000997673" "00014698" "50" "4168" "0" "4168" "0" "c.4168C>A" "r.(?)" "p.(Pro1390Thr)" "" "0000997674" "00014698" "30" "4028" "0" "4028" "0" "c.4028C>T" "r.(?)" "p.(Ala1343Val)" "" "0000997675" "00014698" "30" "3970" "0" "3970" "0" "c.3970G>A" "r.(?)" "p.(Val1324Met)" "" "0000997676" "00014698" "50" "3706" "0" "3706" "0" "c.3706C>T" "r.(?)" "p.(Pro1236Ser)" "" "0000997677" "00014698" "50" "3679" "0" "3679" "0" "c.3679C>T" "r.(?)" "p.(Pro1227Ser)" "" "0000997678" "00014698" "50" "3469" "0" "3469" "0" "c.3469G>A" "r.(?)" "p.(Gly1157Arg)" "" "0000997679" "00014698" "70" "3462" "0" "3462" "0" "c.3462C>A" "r.(?)" "p.(Cys1154*)" "" "0000997680" "00014698" "50" "3261" "0" "3261" "0" "c.3261C>A" "r.(?)" "p.(Ser1087Arg)" "" "0000997681" "00014698" "30" "3245" "0" "3245" "0" "c.3245G>T" "r.(?)" "p.(Arg1082Leu)" "" "0000997682" "00014698" "50" "3211" "0" "3211" "0" "c.3211G>A" "r.(?)" "p.(Gly1071Ser)" "" "0000997683" "00014698" "50" "2983" "0" "2983" "0" "c.2983G>A" "r.(?)" "p.(Gly995Ser)" "" "0000997684" "00014698" "50" "2734" "0" "2734" "0" "c.2734C>T" "r.(?)" "p.(Arg912Trp)" "" "0000997685" "00014698" "50" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "" "0000997686" "00014698" "50" "2002" "0" "2002" "0" "c.2002C>G" "r.(?)" "p.(Pro668Ala)" "" "0000997687" "00014698" "50" "1838" "0" "1838" "0" "c.1838G>A" "r.(?)" "p.(Arg613His)" "" "0000997688" "00014698" "50" "1774" "0" "1774" "0" "c.1774C>T" "r.(?)" "p.(Arg592Cys)" "" "0000997689" "00014698" "30" "1676" "0" "1676" "0" "c.1676C>T" "r.(?)" "p.(Thr559Met)" "" "0000997690" "00014698" "90" "1650" "0" "1650" "0" "c.1650C>G" "r.(?)" "p.(Tyr550*)" "" "0000997691" "00014698" "50" "1205" "0" "1205" "0" "c.1205C>T" "r.(?)" "p.(Ser402Leu)" "" "0000997692" "00014698" "50" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Ser)" "" "0000997693" "00014698" "50" "707" "0" "707" "0" "c.707C>T" "r.(?)" "p.(Thr236Met)" "" "0000997694" "00014698" "50" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Pro173Leu)" "" "0001007444" "00014698" "70" "4577" "0" "4577" "0" "c.4577G>A" "r.(?)" "p.(Gly1526Asp)" "" "0001007530" "00014698" "70" "2806" "0" "2806" "0" "c.2806G>A" "r.(?)" "p.(Gly936Ser)" "" "0001014520" "00014698" "10" "5988" "0" "5988" "0" "c.5988G>A" "r.(?)" "p.(Thr1996=)" "" "0001014521" "00014698" "30" "3294" "0" "3294" "0" "c.3294C>T" "r.(?)" "p.(Ser1098=)" "" "0001022079" "00014698" "90" "140" "3" "140" "3" "c.140+3G>C" "r.[62_140del,=]" "p.[Gly21AlafsTer53,=]" "2i" "0001022104" "00014698" "50" "5901" "0" "5901" "0" "c.5901G>A" "r.5901G>A" "p.Ala1967=" "31" "0001025640" "00014698" "50" "4031" "0" "4031" "0" "c.4031C>T" "r.(?)" "p.(Thr1344Met)" "" "0001025641" "00014698" "50" "2542" "0" "2542" "0" "c.2542G>A" "r.(?)" "p.(Glu848Lys)" "" "0001025642" "00014698" "10" "2049" "0" "2049" "0" "c.2049G>A" "r.(?)" "p.(Ala683=)" "" "0001025643" "00014698" "30" "865" "18" "865" "18" "c.865+18C>T" "r.(=)" "p.(=)" "" "0001029694" "00014698" "30" "4049" "0" "4049" "0" "c.4049G>T" "r.(?)" "p.(Arg1350Leu)" "" "0001030918" "00014698" "50" "5495" "0" "5495" "0" "c.5495C>G" "r.(?)" "p.(Pro1832Arg)" "" "0001030919" "00014698" "50" "2728" "0" "2728" "0" "c.2728G>A" "r.(?)" "p.(Asp910Asn)" "" "0001037318" "00014698" "30" "12313" "0" "12313" "0" "c.*4645G>A" "r.(=)" "p.(=)" "" "0001037319" "00014698" "30" "7251" "0" "7251" "0" "c.7251G>A" "r.(?)" "p.(Pro2417=)" "" "0001037320" "00014698" "50" "7078" "0" "7078" "0" "c.7078T>C" "r.(?)" "p.(Ser2360Pro)" "" "0001037321" "00014698" "10" "6870" "0" "6870" "0" "c.6870C>T" "r.(?)" "p.(Ser2290=)" "" "0001037322" "00014698" "30" "6422" "0" "6422" "0" "c.6422C>T" "r.(?)" "p.(Ser2141Leu)" "" "0001037323" "00014698" "30" "6180" "7" "6180" "7" "c.6180+7G>A" "r.(=)" "p.(=)" "" "0001037324" "00014698" "50" "5810" "0" "5810" "0" "c.5810G>T" "r.(?)" "p.(Arg1937Leu)" "" "0001037325" "00014698" "50" "5414" "0" "5414" "0" "c.5414T>C" "r.(?)" "p.(Leu1805Pro)" "" "0001037326" "00014698" "50" "5215" "0" "5215" "0" "c.5215G>A" "r.(?)" "p.(Val1739Met)" "" "0001037327" "00014698" "10" "5019" "-13" "5019" "-10" "c.5019-13_5019-10del" "r.(=)" "p.(=)" "" "0001037328" "00014698" "10" "4887" "0" "4887" "0" "c.4887C>T" "r.(?)" "p.(His1629=)" "" "0001037329" "00014698" "50" "4639" "0" "4639" "0" "c.4639C>G" "r.(?)" "p.(Gln1547Glu)" "" "0001037330" "00014698" "50" "4426" "0" "4426" "0" "c.4426G>A" "r.(?)" "p.(Gly1476Ser)" "" "0001037331" "00014698" "30" "4049" "0" "4049" "0" "c.4049G>T" "r.(?)" "p.(Arg1350Leu)" "" "0001037332" "00014698" "50" "3953" "0" "3953" "0" "c.3953A>G" "r.(?)" "p.(Asn1318Ser)" "" "0001037333" "00014698" "30" "3807" "0" "3807" "0" "c.3807C>T" "r.(?)" "p.(=)" "" "0001037334" "00014698" "30" "3708" "0" "3708" "0" "c.3708C>T" "r.(?)" "p.(=)" "" "0001037335" "00014698" "50" "3670" "0" "3670" "0" "c.3670G>A" "r.(?)" "p.(Asp1224Asn)" "" "0001037336" "00014698" "30" "3644" "-4" "3644" "-4" "c.3644-4G>A" "r.spl?" "p.?" "" "0001037337" "00014698" "30" "3552" "0" "3552" "0" "c.3552C>T" "r.(?)" "p.(=)" "" "0001037338" "00014698" "50" "3372" "0" "3372" "0" "c.3372C>G" "r.(?)" "p.(Asp1124Glu)" "" "0001037339" "00014698" "50" "3190" "0" "3190" "0" "c.3190G>A" "r.(?)" "p.(Asp1064Asn)" "" "0001037340" "00014698" "30" "3171" "9" "3171" "9" "c.3171+9G>A" "r.(=)" "p.(=)" "" "0001037341" "00014698" "30" "3115" "0" "3115" "0" "c.3115G>A" "r.(?)" "p.(Gly1039Ser)" "" "0001037342" "00014698" "50" "2917" "0" "2917" "0" "c.2917G>A" "r.(?)" "p.(Ala973Thr)" "" "0001037343" "00014698" "50" "2869" "0" "2869" "0" "c.2869G>A" "r.(?)" "p.(Gly957Arg)" "" "0001037344" "00014698" "50" "2833" "0" "2833" "0" "c.2833G>T" "r.(?)" "p.(Asp945Tyr)" "" "0001037345" "00014698" "30" "2813" "0" "2813" "0" "c.2813G>A" "r.(?)" "p.(Arg938Gln)" "" "0001037346" "00014698" "30" "2691" "0" "2691" "0" "c.2691C>T" "r.(?)" "p.(Ala897=)" "" "0001037347" "00014698" "30" "2664" "0" "2664" "0" "c.2664C>T" "r.(?)" "p.(His888=)" "" "0001037348" "00014698" "30" "2529" "0" "2529" "0" "c.2529G>A" "r.(?)" "p.(=)" "" "0001037349" "00014698" "30" "2354" "-5" "2354" "-5" "c.2354-5T>C" "r.spl?" "p.?" "" "0001037350" "00014698" "50" "2263" "0" "2265" "0" "c.2263_2265del" "r.(?)" "p.(Asn755del)" "" "0001037351" "00014698" "30" "2003" "0" "2003" "0" "c.2003C>T" "r.(?)" "p.(Pro668Leu)" "" "0001037352" "00014698" "30" "1868" "0" "1868" "0" "c.1868A>G" "r.(?)" "p.(Asn623Ser)" "" "0001037353" "00014698" "30" "1256" "-6" "1256" "-6" "c.1256-6C>T" "r.(=)" "p.(=)" "" "0001037354" "00014698" "50" "724" "0" "724" "0" "c.724G>C" "r.(?)" "p.(Glu242Gln)" "" "0001046189" "00014698" "50" "6322" "0" "6322" "0" "c.6322G>A" "r.(?)" "p.(Asp2108Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000065285" "0000096958" "0000104512" "0000169448" "0000295976" "0000652665" "0000295977" "0000652666" "0000295978" "0000652667" "0000295979" "0000652668" "0000295980" "0000652669" "0000304153" "0000667586" "0000306367" "0000670055" "0000308283" "0000675205" "0000312328" "0000693912" "0000327083" "0000710715" "0000399343" "0000831704" "0000399369" "0000831730" "0000399422" "0000831783" "0000399423" "0000831784" "0000399424" "0000831785" "0000399425" "0000831786" "0000399426" "0000831787" "0000399427" "0000831788" "0000399428" "0000831789" "0000399429" "0000831790" "0000399430" "0000831791" "0000399578" "0000832158" "0000453275" "0000987853" "0000455332" "0001007530" "0000455337" "0001007444" "0000462552" "0001022079" "0000462577" "0001022104"