### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MTOR) # 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}}" "MTOR" "mechanistic target of rapamycin (serine/threonine kinase)" "1" "p36" "unknown" "NG_033239.1" "UD_132319017856" "" "https://www.LOVD.nl/MTOR" "" "1" "3942" "2475" "601231" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/MTOR_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2019-01-21 12:45:10" "00000" "2025-11-01 13:22:20" ## 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}}" "00000842" "MTOR" "mechanistic target of rapamycin (serine/threonine kinase)" "001" "NM_004958.3" "" "NP_004949.1" "" "" "" "-121" "8604" "7650" "11166588" "11322608" "00000" "2012-09-13 12:55:06" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00764" "RCC" "carcinoma, renal cell (RCC)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "02650" "FCORD2" "dysplasia, cortical, focal type II (FCORD-2)" "" "607341" "" "" "" "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" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05548" "SKS" "Smith-Kingsmore syndrome (SKS)" "AD" "616638" "" "autosomal dominant" "" "00006" "2019-01-21 12:46:55" "00006" "2021-12-10 21:51:32" "05549" "-" "antiphospholipid syndrome, familial" "" "107320" "" "" "" "00006" "2019-01-21 12:52:26" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MTOR" "02650" "MTOR" "05548" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00103992" "" "" "" "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-025A" "00218046" "" "" "" "1" "" "03178" "{PMID:Rodriguez-Garcia 2019:31053780}, {DOI:Rodriguez-Garcia 2019:10.1038/s41431-019-0418-1}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Spain" ">13y" "0" "" "" "" "patient" "00226335" "" "" "" "1" "" "03224" "" "" "F" "" "" "" "0" "" "" "" "patient5" "00234387" "" "" "" "1" "" "03224" "" "" "F" "" "" "" "0" "" "" "" "" "00305989" "" "" "" "1" "" "00006" "{PMID:Johannesen 2020:32427350}, {PMID:Moller 2016:2783018}" "" "F" "" "Denmark" "" "0" "" "" "" "Pat20" "00307142" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "-" "Brazil" "" "0" "" "" "" "Patient 06" "00307257" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "0" "" "" "" "Patient 62" "00307260" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "F" "" "Brazil" "" "" "" "" "" "Patient 75" "00325949" "" "" "" "1" "" "00596" "{PMID:Tjota, 2020:33352195}" "patient with IHC staining pattern profile of CHRCC, but molecular finding is distinct from that commonly found in CHRCC; patient\'s tumour correlates with low-grade oncocytic tumour (LOT)" "F" "?" "(United States)" "" "0" "" "" "" "XI" "00390029" "" "" "" "1" "" "00000" "{PMID:Ruberto 2020:32507954}" "" "?" "" "Italy" "" "0" "" "" "" "16" "00401645" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "227P" "00431130" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "213269" "00450295" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0020" "00450296" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG1554" "00467277" "" "" "" "1" "" "00006" "{PMID:Soden 2014:25473036}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "CMH096" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00103992" "03381" "00218046" "05548" "00218046" "05549" "00226335" "02650" "00234387" "00198" "00305989" "04270" "00307142" "01544" "00307257" "01544" "00307260" "01544" "00325949" "00764" "00390029" "04214" "00401645" "00139" "00431130" "05548" "00450295" "00198" "00450296" "00198" "00467277" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00764, 01157, 01544, 02650, 03381, 04214, 04270, 05548, 05549 ## Count = 13 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000081926" "03381" "00103992" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000231835" "04270" "00305989" "00006" "Unknown" "46y" "" "" "" "" "" "" "" "" "" "focal epilepsy" "ADNFLE" "" "0000232946" "01544" "00307142" "03753" "-" "" "Unilateral" "" "00y35m" "HP:0000555" "" "" "" "" "" "" "" "" "0000233061" "01544" "00307257" "03753" "Unknown" "" "Unilateral" "" "00y22m" "HP:0000486" "" "" "" "" "" "" "" "" "0000233064" "01544" "00307260" "03753" "Unknown" "" "Unilateral" "" "00y25m" "HP:0000486" "" "" "" "" "" "" "" "" "0000244435" "00764" "00325949" "00596" "Unknown" "" "" "" "80y" "" "" "" "" "" "" "TSC/MTOR-associated RCC" "CHRCC, eosinophilic variant" "" "0000283569" "04214" "00390029" "00000" "Unknown" "" "Very pale optic disk, chorioretinal atrophy in macular area, highly altered fundus" "" "" "" "" "" "" "" "" "Retinal dystrophy" "" "" "0000321739" "05548" "00431130" "01164" "Isolated (sporadic)" "01y" "Seizure, Global developmental delay, Macrocephaly, Depressed nasal bridge, Wolff-Parkinson-White syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000339355" "00198" "00450295" "00006" "Isolated (sporadic)" "17y" "overgrowth head; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339356" "00198" "00450296" "00006" "Unknown" "27y" "overgrowth head; severe intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000352484" "00198" "00467277" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000104463" "00103992" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000219116" "00218046" "1" "03178" "03178" "2019-01-17 13:18:04" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000227411" "00226335" "1" "03224" "03224" "2019-03-08 13:01:46" "" "" "SEQ-NG" "DNA" "Brain tissue" "gene panel" "0000235491" "00234387" "1" "03224" "03224" "2019-05-15 13:26:58" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000307119" "00305989" "1" "00006" "00006" "2020-07-06 16:08:38" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate gene panel" "0000308283" "00307142" "1" "03753" "03753" "2020-08-04 07:20:11" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "gene panel" "0000308399" "00307257" "1" "03753" "03753" "2020-08-06 23:25:39" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000308402" "00307260" "1" "03753" "03753" "2020-08-07 03:50:40" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000327159" "00325949" "1" "00596" "00596" "2021-01-06 11:56:33" "" "" "SEQ-NG" "DNA" "Kidney tumour" "panel of 1213 cancer associated genes used" "0000391270" "00390029" "1" "00000" "03840" "2021-11-08 12:01:50" "" "" "arrayCGH" "DNA" "" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000402888" "00401645" "1" "02494" "02494" "2022-02-01 11:26:07" "" "" "SEQ-NG" "DNA" "" "WES" "0000432541" "00431130" "1" "01164" "01164" "2023-01-28 13:08:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000451891" "00450295" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451892" "00450296" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468940" "00467277" "1" "00006" "00006" "2025-10-10 16:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000219116" "MTOR" "0000227411" "MTOR" "0000307119" "MTOR" "0000327159" "MTOR" "0000327159" "TSC2" "0000391270" "NMNAT1" "0000432541" "MTOR" ## 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 = 210 "{{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}}" "0000003376" "0" "50" "1" "11292881" "11292881" "subst" "0" "00037" "MTOR_000005" "g.11292881A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.11232824A>G" "" "VUS" "" "0000003377" "0" "50" "1" "11293147" "11293147" "subst" "0" "00037" "MTOR_000001" "g.11293147C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.11233090C>T" "" "VUS" "" "0000003378" "0" "50" "1" "11293200" "11293200" "subst" "0" "00037" "MTOR_000003" "g.11293200C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.11233143C>T" "" "VUS" "" "0000011362" "0" "50" "1" "11293147" "11293147" "subst" "0" "00037" "MTOR_000001" "g.11293147C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.11233090C>T" "" "VUS" "" "0000011363" "0" "50" "1" "11293200" "11293200" "subst" "0" "00037" "MTOR_000003" "g.11293200C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.11233143C>T" "" "VUS" "" "0000169256" "0" "70" "1" "11181308" "11181308" "subst" "0" "00587" "MTOR_000006" "g.11181308A>G" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_004958.3(MTOR):c.6928T>C p.(Ser2310Pro)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.11121251A>G" "" "likely pathogenic" "" "0000245437" "0" "10" "1" "11301714" "11301714" "subst" "0.725735" "02330" "MTOR_000018" "g.11301714A>G" "" "" "" "MTOR(NM_004958.3):c.1437T>C (p.D479=), MTOR(NM_004958.4):c.1437T>C (p.D479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11241657A>G" "" "benign" "" "0000251758" "0" "30" "1" "11184593" "11184593" "subst" "0.00506814" "02326" "MTOR_000010" "g.11184593A>G" "" "" "" "MTOR(NM_001386500.1):c.6624T>C (p.L2208=), MTOR(NM_004958.3):c.6624T>C (p.(Leu2208=), p.L2208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11124536A>G" "" "likely benign" "" "0000280066" "0" "10" "1" "11288758" "11288758" "subst" "0.751689" "02330" "MTOR_000016" "g.11288758G>A" "" "" "" "MTOR(NM_004958.3):c.2997C>T (p.N999=), MTOR(NM_004958.4):c.2997C>T (p.N999=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11228701G>A" "" "benign" "" "0000280067" "0" "10" "1" "11205058" "11205058" "subst" "0.686792" "02330" "MTOR_000015" "g.11205058C>T" "" "" "" "MTOR(NM_004958.3):c.4731G>A (p.A1577=), MTOR(NM_004958.4):c.4731G>A (p.A1577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11145001C>T" "" "benign" "" "0000280068" "0" "10" "1" "11190646" "11190646" "subst" "0.215064" "02330" "MTOR_000012" "g.11190646G>A" "" "" "" "MTOR(NM_004958.4):c.5553C>T (p.S1851=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11130589G>A" "" "benign" "" "0000280069" "0" "10" "1" "11181327" "11181327" "subst" "0.212806" "02330" "MTOR_000009" "g.11181327C>T" "" "" "" "MTOR(NM_004958.4):c.6909G>A (p.L2303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11121270C>T" "" "benign" "" "0000282664" "0" "50" "1" "11172934" "11172939" "del" "0" "02325" "MTOR_000008" "g.11172934_11172939del" "" "" "" "MTOR(NM_004958.4):c.7336_7341delACGGAT (p.T2446_D2447del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11112877_11112882del" "" "VUS" "" "0000283749" "0" "90" "1" "11190804" "11190804" "subst" "0" "02329" "MTOR_000013" "g.11190804C>T" "" "" "" "MTOR(NM_004958.3):c.5395G>A (p.E1799K, p.(Glu1799Lys)), MTOR(NM_004958.4):c.5395G>A (p.E1799K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11130747C>T" "" "pathogenic" "" "0000286697" "0" "30" "1" "11294230" "11294230" "subst" "0.000207246" "02326" "MTOR_000017" "g.11294230G>A" "" "" "" "MTOR(NM_004958.3):c.2301C>T (p.L767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11234173G>A" "" "likely benign" "" "0000286698" "0" "30" "1" "11317235" "11317235" "subst" "0.00118111" "02326" "MTOR_000020" "g.11317235G>C" "" "" "" "MTOR(NM_004958.3):c.272-13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11257178G>C" "" "likely benign" "" "0000286699" "0" "30" "1" "11188494" "11188494" "subst" "0.000284428" "02326" "MTOR_000011" "g.11188494C>T" "" "" "" "MTOR(NM_004958.3):c.5910+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11128437C>T" "" "likely benign" "" "0000292130" "0" "30" "1" "11169420" "11169420" "subst" "0.00322271" "01943" "MTOR_000007" "g.11169420G>A" "" "" "" "MTOR(NM_004958.3):c.7455C>T (p.D2485=, p.(Asp2485=)), MTOR(NM_004958.4):c.7455C>T (p.D2485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11109363G>A" "" "likely benign" "" "0000341185" "0" "70" "1" "11210198" "11210198" "subst" "0" "02327" "MTOR_000023" "g.11210198C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11150141C>T" "" "likely pathogenic" "" "0000346752" "0" "50" "1" "11301649" "11301649" "subst" "0" "02327" "MTOR_000025" "g.11301649A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11241592A>G" "" "VUS" "" "0000349294" "0" "30" "1" "11206821" "11206821" "subst" "0" "02327" "MTOR_000022" "g.11206821G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11146764G>T" "" "likely benign" "" "0000349893" "0" "50" "1" "11270961" "11270961" "subst" "0" "02327" "MTOR_000024" "g.11270961G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11210904G>T" "" "VUS" "" "0000453955" "0" "90" "1" "11174440" "11174440" "subst" "0" "03178" "MTOR_000026" "g.11174440T>A" "" "{PMID:Rodriguez-Garcia 2019:31053780}, {DOI:Rodriguez-Garcia 2019:10.1038/s41431-019-0418-1}" "" "" "" "De novo" "" "" "0" "" "" "g.11114383T>A" "" "pathogenic (dominant)" "" "0000465652" "0" "70" "1" "11188164" "11188164" "subst" "0" "03224" "MTOR_000027" "g.11188164G>T" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.11128107G>T" "" "likely pathogenic" "" "0000478730" "0" "50" "1" "11188576" "11188576" "subst" "0" "03224" "MTOR_000028" "g.11188576G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.11128519G>C" "" "VUS" "" "0000502448" "0" "30" "1" "11168265" "11168265" "subst" "0" "01804" "MTOR_000029" "g.11168265T>G" "" "" "" "MTOR(NM_004958.3):c.7607A>C (p.(Glu2536Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11108208T>G" "" "likely benign" "" "0000502450" "0" "30" "1" "11169420" "11169420" "subst" "0.00322271" "02330" "MTOR_000007" "g.11169420G>A" "" "" "" "MTOR(NM_004958.3):c.7455C>T (p.D2485=, p.(Asp2485=)), MTOR(NM_004958.4):c.7455C>T (p.D2485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11109363G>A" "" "likely benign" "" "0000502451" "0" "30" "1" "11169775" "11169775" "subst" "8.93568E-5" "01943" "MTOR_000031" "g.11169775C>T" "" "" "" "MTOR(NM_004958.3):c.7378G>A (p.G2460S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11109718C>T" "" "likely benign" "" "0000502453" "0" "70" "1" "11174459" "11174459" "subst" "0" "02327" "MTOR_000033" "g.11174459C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11114402C>T" "" "likely pathogenic" "" "0000502455" "0" "30" "1" "11188142" "11188142" "subst" "0.00051989" "01943" "MTOR_000035" "g.11188142C>T" "" "" "" "MTOR(NM_004958.3):c.5952G>A (p.T1984=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11128085C>T" "" "likely benign" "" "0000502456" "0" "30" "1" "11188628" "11188628" "subst" "0.000926543" "02326" "MTOR_000036" "g.11188628C>T" "" "" "" "MTOR(NM_004958.3):c.5812-19G>A, MTOR(NM_004958.4):c.5812-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11128571C>T" "" "likely benign" "" "0000502457" "0" "30" "1" "11188899" "11188899" "subst" "0.000836038" "02326" "MTOR_000037" "g.11188899C>T" "" "" "" "MTOR(NM_004958.3):c.5811+13G>A, MTOR(NM_004958.4):c.5811+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11128842C>T" "" "likely benign" "" "0000502459" "0" "30" "1" "11189856" "11189856" "subst" "0.000320854" "02326" "MTOR_000038" "g.11189856C>T" "" "" "" "MTOR(NM_004958.3):c.5653G>A (p.V1885I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11129799C>T" "" "likely benign" "" "0000502460" "0" "30" "1" "11190599" "11190599" "subst" "0" "02327" "MTOR_000039" "g.11190599T>C" "" "" "" "MTOR(NM_004958.4):c.5600A>G (p.K1867R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11130542T>C" "" "likely benign" "" "0000502461" "0" "50" "1" "11190599" "11190599" "subst" "0" "02325" "MTOR_000039" "g.11190599T>C" "" "" "" "MTOR(NM_004958.4):c.5600A>G (p.K1867R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11130542T>C" "" "VUS" "" "0000502462" "0" "10" "1" "11190646" "11190646" "subst" "0.215064" "02327" "MTOR_000012" "g.11190646G>A" "" "" "" "MTOR(NM_004958.4):c.5553C>T (p.S1851=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11130589G>A" "" "benign" "" "0000502463" "0" "30" "1" "11190683" "11190683" "subst" "0" "02327" "MTOR_000040" "g.11190683G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11130626G>A" "" "likely benign" "" "0000502464" "0" "90" "1" "11190804" "11190804" "subst" "0" "02327" "MTOR_000013" "g.11190804C>T" "" "" "" "MTOR(NM_004958.3):c.5395G>A (p.E1799K, p.(Glu1799Lys)), MTOR(NM_004958.4):c.5395G>A (p.E1799K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11130747C>T" "" "pathogenic" "" "0000502465" "0" "30" "1" "11193262" "11193262" "subst" "8.52944E-5" "01943" "MTOR_000041" "g.11193262C>T" "" "" "" "MTOR(NM_004958.3):c.5247-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11133205C>T" "" "likely benign" "" "0000502466" "0" "30" "1" "11199578" "11199578" "subst" "0.00136889" "02326" "MTOR_000042" "g.11199578G>T" "" "" "" "MTOR(NM_004958.3):c.4998+12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11139521G>T" "" "likely benign" "" "0000502467" "0" "50" "1" "11199666" "11199666" "subst" "3.24881E-5" "01804" "MTOR_000043" "g.11199666G>A" "" "" "" "MTOR(NM_004958.3):c.4922C>T (p.(Ser1641Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11139609G>A" "" "VUS" "" "0000502468" "0" "30" "1" "11199680" "11199680" "subst" "0.000292402" "02326" "MTOR_000044" "g.11199680G>A" "" "" "" "MTOR(NM_004958.3):c.4908C>T (p.I1636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11139623G>A" "" "likely benign" "" "0000502469" "0" "50" "1" "11205057" "11205057" "subst" "4.06187E-6" "01804" "MTOR_000045" "g.11205057T>C" "" "" "" "MTOR(NM_004958.3):c.4732A>G (p.(Met1578Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11145000T>C" "" "VUS" "" "0000502470" "0" "70" "1" "11217222" "11217222" "subst" "0" "02329" "MTOR_000046" "g.11217222C>A" "" "" "" "MTOR(NM_004958.4):c.4456G>T (p.A1486S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11157165C>A" "" "likely pathogenic" "" "0000502499" "0" "30" "1" "11253716" "11253716" "subst" "5.29066E-5" "02325" "MTOR_000047" "g.11253716G>A" "" "" "" "MTOR(NM_004958.4):c.4253+5599C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11193659G>A" "" "likely benign" "" "0000502500" "0" "50" "1" "11259399" "11259399" "subst" "0" "01943" "MTOR_000048" "g.11259399C>T" "" "" "" "MTOR(NM_004958.3):c.4169G>A (p.C1390Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11199342C>T" "" "VUS" "" "0000502502" "0" "30" "1" "11264768" "11264768" "subst" "4.49438E-5" "02326" "MTOR_000050" "g.11264768C>A" "" "" "" "MTOR(NM_004958.3):c.3802-8G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11204711C>A" "" "likely benign" "" "0000502503" "0" "30" "1" "11270895" "11270895" "subst" "0.000870988" "02326" "MTOR_000051" "g.11270895A>G" "" "" "" "MTOR(NM_004958.3):c.3630T>C (p.D1210=), MTOR(NM_004958.4):c.3630T>C (p.D1210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11210838A>G" "" "likely benign" "" "0000502505" "0" "30" "1" "11288950" "11288950" "subst" "0.00219493" "02326" "MTOR_000053" "g.11288950C>T" "" "" "" "MTOR(NM_004958.3):c.2805G>A (p.L935=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11228893C>T" "" "likely benign" "" "0000502506" "0" "50" "1" "11291113" "11291113" "subst" "0" "02327" "MTOR_000054" "g.11291113T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11231056T>C" "" "VUS" "" "0000502507" "0" "30" "1" "11293489" "11293489" "subst" "4.06184E-6" "01804" "MTOR_000055" "g.11293489T>C" "" "" "" "MTOR(NM_004958.3):c.2387A>G (p.(Asn796Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11233432T>C" "" "likely benign" "" "0000502508" "0" "30" "1" "11297883" "11297883" "subst" "1.24722E-5" "02326" "MTOR_000056" "g.11297883G>A" "" "" "" "MTOR(NM_004958.3):c.2208+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11237826G>A" "" "likely benign" "" "0000502509" "0" "30" "1" "11298038" "11298038" "subst" "0.000569157" "02326" "MTOR_000057" "g.11298038C>T" "" "" "" "MTOR(NM_004958.3):c.2070G>A (p.A690=), MTOR(NM_004958.4):c.2070G>A (p.A690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11237981C>T" "" "likely benign" "" "0000502510" "0" "30" "1" "11298077" "11298077" "subst" "2.03474E-5" "02326" "MTOR_000058" "g.11298077C>T" "" "" "" "MTOR(NM_004958.3):c.2031G>A (p.A677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11238020C>T" "" "likely benign" "" "0000502511" "0" "30" "1" "11298631" "11298631" "subst" "0.00147941" "02326" "MTOR_000059" "g.11298631G>A" "" "" "" "MTOR(NM_004958.3):c.1830C>T (p.F610=, p.(Phe610=)), MTOR(NM_004958.4):c.1830C>T (p.F610=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11238574G>A" "" "likely benign" "" "0000502512" "0" "30" "1" "11300580" "11300580" "subst" "0.000170587" "02326" "MTOR_000060" "g.11300580G>A" "" "" "" "MTOR(NM_004958.3):c.1566C>T (p.Y522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11240523G>A" "" "likely benign" "" "0000502513" "0" "10" "1" "11303153" "11303153" "subst" "0.056613" "02330" "MTOR_000061" "g.11303153C>A" "" "" "" "MTOR(NM_004958.4):c.1412+18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11243096C>A" "" "benign" "" "0000502514" "0" "30" "1" "11308007" "11308007" "subst" "0.00262352" "02326" "MTOR_000062" "g.11308007C>T" "" "" "" "MTOR(NM_004958.3):c.985G>A (p.(Ala329Thr), p.A329T), MTOR(NM_004958.4):c.985G>A (p.A329T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11247950C>T" "" "likely benign" "" "0000604651" "0" "30" "1" "11172961" "11172961" "subst" "2.84389E-5" "02330" "MTOR_000064" "g.11172961G>A" "" "" "" "MTOR(NM_004958.3):c.7314C>T (p.(=)), MTOR(NM_004958.4):c.7314C>T (p.G2438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11112904G>A" "" "likely benign" "" "0000604652" "0" "50" "1" "11172961" "11172961" "subst" "2.84389E-5" "01804" "MTOR_000064" "g.11172961G>A" "" "" "" "MTOR(NM_004958.3):c.7314C>T (p.(=)), MTOR(NM_004958.4):c.7314C>T (p.G2438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11112904G>A" "" "VUS" "" "0000604653" "0" "30" "1" "11188628" "11188628" "subst" "0.000926543" "02330" "MTOR_000036" "g.11188628C>T" "" "" "" "MTOR(NM_004958.3):c.5812-19G>A, MTOR(NM_004958.4):c.5812-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11128571C>T" "" "likely benign" "" "0000604654" "0" "30" "1" "11188899" "11188899" "subst" "0.000836038" "02330" "MTOR_000037" "g.11188899C>T" "" "" "" "MTOR(NM_004958.3):c.5811+13G>A, MTOR(NM_004958.4):c.5811+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11128842C>T" "" "likely benign" "" "0000604656" "0" "50" "1" "11190697" "11190708" "del" "0" "01804" "MTOR_000067" "g.11190697_11190708del" "" "" "" "MTOR(NM_004958.3):c.5499_5510del (p.(Thr1834_Thr1837del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11130640_11130651del" "" "VUS" "" "0000604663" "0" "30" "1" "11270895" "11270895" "subst" "0.000870988" "02330" "MTOR_000051" "g.11270895A>G" "" "" "" "MTOR(NM_004958.3):c.3630T>C (p.D1210=), MTOR(NM_004958.4):c.3630T>C (p.D1210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11210838A>G" "" "likely benign" "" "0000604664" "0" "30" "1" "11288876" "11288876" "subst" "0" "01804" "MTOR_000074" "g.11288876C>T" "" "" "" "MTOR(NM_004958.3):c.2879G>A (p.(Arg960Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11228819C>T" "" "likely benign" "" "0000604665" "0" "30" "1" "11298038" "11298038" "subst" "0.000569157" "02330" "MTOR_000057" "g.11298038C>T" "" "" "" "MTOR(NM_004958.3):c.2070G>A (p.A690=), MTOR(NM_004958.4):c.2070G>A (p.A690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11237981C>T" "" "likely benign" "" "0000604666" "0" "30" "1" "11300415" "11300415" "subst" "9.01292E-5" "02326" "MTOR_000078" "g.11300415G>A" "" "" "" "MTOR(NM_004958.3):c.1731C>T (p.S577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11240358G>A" "" "likely benign" "" "0000620332" "0" "10" "1" "11174851" "11174851" "subst" "0.0245525" "02330" "MTOR_000065" "g.11174851G>A" "" "" "" "MTOR(NM_004958.4):c.7164+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11114794G>A" "" "benign" "" "0000620333" "0" "10" "1" "11187893" "11187893" "subst" "0.9984" "01943" "MTOR_000066" "g.11187893T>C" "" "" "" "MTOR(NM_004958.3):c.6034-30A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11127836T>C" "" "benign" "" "0000620334" "0" "10" "1" "11190730" "11190730" "subst" "0.0248355" "02330" "MTOR_000068" "g.11190730G>A" "" "" "" "MTOR(NM_004958.4):c.5469C>T (p.A1823=, p.(Ala1823=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11130673G>A" "" "benign" "" "0000620335" "0" "10" "1" "11205058" "11205058" "subst" "0.686792" "01943" "MTOR_000015" "g.11205058C>T" "" "" "" "MTOR(NM_004958.3):c.4731G>A (p.A1577=), MTOR(NM_004958.4):c.4731G>A (p.A1577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11145001C>T" "" "benign" "" "0000620336" "0" "70" "1" "11217322" "11217322" "subst" "0" "01943" "MTOR_000069" "g.11217322T>A" "" "" "" "MTOR(NM_004958.3):c.4356A>T (p.K1452N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11157265T>A" "" "likely pathogenic" "" "0000620338" "0" "50" "1" "11259709" "11259709" "subst" "8.12612E-6" "01943" "MTOR_000070" "g.11259709A>T" "" "" "" "MTOR(NM_004958.3):c.3996T>A (p.D1332E, p.(Asp1332Glu)), MTOR(NM_004958.4):c.3996T>A (p.D1332E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11199652A>T" "" "VUS" "" "0000620339" "0" "10" "1" "11272468" "11272468" "subst" "0.019813" "02330" "MTOR_000071" "g.11272468C>G" "" "" "" "MTOR(NM_004958.4):c.3462G>C (p.R1154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11212411C>G" "" "benign" "" "0000620340" "0" "10" "1" "11288618" "11288618" "subst" "0" "01943" "MTOR_000072" "g.11288618G>A" "" "" "" "MTOR(NM_004958.3):c.3030+107C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11228561G>A" "" "benign" "" "0000620341" "0" "10" "1" "11288633" "11288633" "subst" "0" "01943" "MTOR_000073" "g.11288633G>C" "" "" "" "MTOR(NM_004958.3):c.3030+92C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11228576G>C" "" "benign" "" "0000620342" "0" "10" "1" "11288758" "11288758" "subst" "0.751689" "01943" "MTOR_000016" "g.11288758G>A" "" "" "" "MTOR(NM_004958.3):c.2997C>T (p.N999=), MTOR(NM_004958.4):c.2997C>T (p.N999=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11228701G>A" "" "benign" "" "0000620343" "0" "10" "1" "11292666" "11292666" "subst" "0" "01943" "MTOR_000075" "g.11292666T>A" "" "" "" "MTOR(NM_004958.3):c.2422-81A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11232609T>A" "" "benign" "" "0000620344" "0" "10" "1" "11293147" "11293147" "subst" "0" "01943" "MTOR_000001" "g.11293147C>T" "" "" "" "MTOR(NM_004958.3):c.2421+308G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11233090C>T" "" "benign" "" "0000620345" "0" "10" "1" "11293200" "11293200" "subst" "0" "01943" "MTOR_000003" "g.11293200C>T" "" "" "" "MTOR(NM_004958.3):c.2421+255G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11233143C>T" "" "benign" "" "0000620346" "0" "10" "1" "11294474" "11294474" "subst" "0" "01943" "MTOR_000076" "g.11294474T>A" "" "" "" "MTOR(NM_004958.3):c.2209-152A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11234417T>A" "" "benign" "" "0000620347" "0" "10" "1" "11297762" "11297762" "subst" "0" "01943" "MTOR_000077" "g.11297762T>C" "" "" "" "MTOR(NM_004958.3):c.2208+138A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11237705T>C" "" "benign" "" "0000620348" "0" "30" "1" "11301651" "11301651" "subst" "0.000203133" "02326" "MTOR_000079" "g.11301651A>G" "" "" "" "MTOR(NM_004958.3):c.1500T>C (p.D500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11241594A>G" "" "likely benign" "" "0000620349" "0" "10" "1" "11301714" "11301714" "subst" "0.725735" "01943" "MTOR_000018" "g.11301714A>G" "" "" "" "MTOR(NM_004958.3):c.1437T>C (p.D479=), MTOR(NM_004958.4):c.1437T>C (p.D479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11241657A>G" "" "benign" "" "0000620350" "0" "10" "1" "11317320" "11317320" "subst" "0" "01943" "MTOR_000080" "g.11317320C>T" "" "" "" "MTOR(NM_004958.3):c.272-98G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11257263C>T" "" "benign" "" "0000620351" "0" "10" "1" "11319587" "11319587" "subst" "0" "01943" "MTOR_000081" "g.11319587A>G" "" "" "" "MTOR(NM_004958.3):c.-14-107T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11259530A>G" "" "benign" "" "0000620352" "0" "10" "1" "11322565" "11322565" "subst" "0" "01943" "MTOR_000082" "g.11322565C>G" "" "" "" "MTOR(NM_004958.3):c.-78G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11262508C>G" "" "benign" "" "0000653584" "0" "30" "1" "11190688" "11190705" "dup" "0" "02326" "MTOR_000083" "g.11190688_11190705dup" "" "" "" "MTOR(NM_004958.3):c.5502_5519dup (p.(Ala1835_Thr1840dup)), MTOR(NM_004958.3):c.5502_5519dupGGCCGCCACTGCCACCAC (p.A1835_T1840dup), MTOR(NM_004958.4)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11130631_11130648dup" "" "likely benign" "" "0000653585" "0" "30" "1" "11259655" "11259655" "subst" "0.000479347" "01943" "MTOR_000084" "g.11259655G>A" "" "" "" "MTOR(NM_004958.3):c.4050C>T (p.I1350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11199598G>A" "" "likely benign" "" "0000653586" "0" "10" "1" "11298631" "11298631" "subst" "0.00147941" "02330" "MTOR_000059" "g.11298631G>A" "" "" "" "MTOR(NM_004958.3):c.1830C>T (p.F610=, p.(Phe610=)), MTOR(NM_004958.4):c.1830C>T (p.F610=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11238574G>A" "" "benign" "" "0000653587" "0" "30" "1" "11300517" "11300517" "subst" "0.000483206" "01943" "MTOR_000085" "g.11300517C>T" "" "" "" "MTOR(NM_004958.3):c.1629G>A (p.L543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11240460C>T" "" "likely benign" "" "0000653588" "0" "30" "1" "11316112" "11316112" "subst" "0" "02326" "MTOR_000063" "g.11316112A>T" "" "" "" "MTOR(NM_004958.3):c.642T>A (p.R214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11256055A>T" "" "likely benign" "" "0000653589" "0" "30" "1" "11316244" "11316244" "subst" "0.00337598" "01943" "MTOR_000086" "g.11316244C>G" "" "" "" "MTOR(NM_004958.3):c.510G>C (p.L170=), MTOR(NM_004958.4):c.510G>C (p.L170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11256187C>G" "" "likely benign" "" "0000653590" "0" "30" "1" "11317071" "11317071" "subst" "0.000479632" "01943" "MTOR_000087" "g.11317071G>A" "" "" "" "MTOR(NM_004958.3):c.423C>T (p.T141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11257014G>A" "" "likely benign" "" "0000673684" "21" "50" "1" "11169374" "11169374" "subst" "4.06207E-6" "00006" "MTOR_000088" "g.11169374T>C" "" "{PMID:Johannesen 2020:32427350}, {PMID:Moller 2016:2783018}" "" "" "ACMG PP1, PP2," "Germline" "" "" "0" "" "" "g.11109317T>C" "" "VUS" "ACMG" "0000675202" "0" "70" "1" "11199689" "11199689" "subst" "0" "03753" "MTOR_000093" "g.11199689C>T" "0.226" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000675398" "0" "50" "1" "11193252" "11193252" "subst" "0" "02327" "MTOR_000090" "g.11193252C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675399" "0" "30" "1" "11194390" "11194390" "subst" "0.000305556" "02326" "MTOR_000091" "g.11194390G>C" "" "" "" "MTOR(NM_004958.3):c.5246+18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675400" "0" "30" "1" "11194521" "11194521" "subst" "0.000329148" "01804" "MTOR_000092" "g.11194521G>A" "" "" "" "MTOR(NM_004958.3):c.5133C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675401" "0" "50" "1" "11227537" "11227537" "subst" "0" "02325" "MTOR_000095" "g.11227537C>T" "" "" "" "MTOR(NM_004958.4):c.4291G>A (p.G1431R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675404" "0" "30" "1" "11259724" "11259724" "subst" "0" "01943" "MTOR_000096" "g.11259724A>G" "" "" "" "MTOR(NM_004958.3):c.3981T>C (p.S1327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675405" "0" "30" "1" "11316091" "11316091" "subst" "0.000999261" "01943" "MTOR_000097" "g.11316091G>C" "" "" "" "MTOR(NM_004958.3):c.663C>G (p.T221=, p.(Thr221=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675406" "0" "30" "1" "11319488" "11319488" "subst" "6.14689E-6" "02326" "MTOR_000099" "g.11319488G>A" "" "" "" "MTOR(NM_004958.3):c.-14-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682739" "0" "70" "1" "11317043" "11317043" "subst" "0" "03753" "MTOR_000098" "g.11317043G>A" "0.035" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000682740" "0" "70" "1" "11199690" "11199690" "subst" "0" "03753" "MTOR_000094" "g.11199690C>T" "0.155" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000682741" "0" "70" "1" "11199689" "11199689" "subst" "0" "03753" "MTOR_000093" "g.11199689C>T" "0.275" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000682765" "0" "70" "1" "11187770" "11187771" "ins" "0" "03753" "MTOR_000089" "g.11187770_11187771insTGTAA" "0.06" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000687805" "0" "30" "1" "11199647" "11199647" "subst" "0.000158372" "02330" "MTOR_000100" "g.11199647A>C" "" "" "" "MTOR(NM_004958.3):c.4941T>G (p.H1647Q, p.(His1647Gln)), MTOR(NM_004958.4):c.4941T>G (p.H1647Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687808" "0" "50" "1" "11272509" "11272509" "subst" "1.22162E-5" "02325" "MTOR_000102" "g.11272509G>A" "" "" "" "MTOR(NM_004958.4):c.3421C>T (p.R1141C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000687809" "0" "30" "1" "11292535" "11292535" "subst" "9.34602E-5" "01943" "MTOR_000103" "g.11292535G>A" "" "" "" "MTOR(NM_004958.3):c.2472C>T (p.I824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687810" "0" "30" "1" "11298631" "11298631" "subst" "0.00147941" "01943" "MTOR_000059" "g.11298631G>A" "" "" "" "MTOR(NM_004958.3):c.1830C>T (p.F610=, p.(Phe610=)), MTOR(NM_004958.4):c.1830C>T (p.F610=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687811" "0" "30" "1" "11300345" "11300345" "subst" "0.00064288" "02326" "MTOR_000104" "g.11300345G>A" "" "" "" "MTOR(NM_004958.3):c.1786+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687812" "0" "30" "1" "11301651" "11301651" "subst" "0.000203133" "01943" "MTOR_000079" "g.11301651A>G" "" "" "" "MTOR(NM_004958.3):c.1500T>C (p.D500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000710813" "0" "90" "1" "11182189" "11182189" "subst" "0.00190035" "00596" "MTOR_000105" "g.11182189G>A" "" "{PMID:Tjota, 2020:33352195}" "" "" "found with TSC2 nonsense c.1507C>T and TSC2 missense c.4603G>A; no significant chromosomal losses found" "Somatic" "" "" "0" "" "" "g.11122132G>A" "" "pathogenic" "" "0000716681" "0" "30" "1" "11182192" "11182192" "subst" "0.000130228" "02326" "MTOR_000106" "g.11182192C>G" "" "" "" "MTOR(NM_004958.3):c.6663-9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716682" "0" "50" "1" "11188948" "11188948" "dup" "0" "01943" "MTOR_000107" "g.11188948dup" "" "" "" "MTOR(NM_004958.3):c.5779dupG (p.V1927Gfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716683" "0" "30" "1" "11189887" "11189887" "subst" "4.06276E-6" "01943" "MTOR_000108" "g.11189887G>A" "" "" "" "MTOR(NM_004958.3):c.5622C>T (p.S1874=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716684" "0" "30" "1" "11194416" "11194416" "subst" "3.25095E-5" "02326" "MTOR_000109" "g.11194416G>A" "" "" "" "MTOR(NM_004958.3):c.5238C>T (p.L1746=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716685" "0" "30" "1" "11199647" "11199647" "subst" "0.000158372" "01804" "MTOR_000100" "g.11199647A>C" "" "" "" "MTOR(NM_004958.3):c.4941T>G (p.H1647Q, p.(His1647Gln)), MTOR(NM_004958.4):c.4941T>G (p.H1647Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716688" "0" "30" "1" "11259404" "11259404" "subst" "0.00013001" "02326" "MTOR_000110" "g.11259404G>A" "" "" "" "MTOR(NM_004958.3):c.4164C>T (p.A1388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716689" "0" "50" "1" "11259668" "11259668" "subst" "0" "02329" "MTOR_000049" "g.11259668G>A" "" "" "" "MTOR(NM_004958.4):c.4037C>T (p.T1346I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716690" "0" "50" "1" "11272397" "11272397" "subst" "0" "02329" "MTOR_000052" "g.11272397G>A" "" "" "" "MTOR(NM_004958.4):c.3533C>T (p.S1178F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716691" "0" "30" "1" "11272478" "11272478" "subst" "0.000178839" "01804" "MTOR_000111" "g.11272478T>C" "" "" "" "MTOR(NM_004958.3):c.3452A>G (p.(Tyr1151Cys), p.Y1151C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716692" "0" "30" "1" "11300580" "11300580" "subst" "0.000170587" "01943" "MTOR_000060" "g.11300580G>A" "" "" "" "MTOR(NM_004958.3):c.1566C>T (p.Y522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716693" "0" "30" "1" "11316091" "11316091" "subst" "0.000999261" "02326" "MTOR_000097" "g.11316091G>C" "" "" "" "MTOR(NM_004958.3):c.663C>G (p.T221=, p.(Thr221=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798663" "0" "30" "1" "11264764" "11264764" "subst" "6.11636E-5" "01943" "MTOR_000112" "g.11264764T>C" "" "" "" "MTOR(NM_004958.3):c.3802-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798664" "0" "30" "1" "11273465" "11273465" "subst" "3.67329E-5" "01943" "MTOR_000113" "g.11273465G>A" "" "" "" "MTOR(NM_004958.3):c.3276C>T (p.V1092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798665" "0" "30" "1" "11293464" "11293464" "subst" "0.00508534" "01804" "MTOR_000114" "g.11293464T>C" "" "" "" "MTOR(NM_004958.3):c.2412A>G (p.(Glu804=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798666" "0" "30" "1" "11308007" "11308007" "subst" "0.00262352" "01804" "MTOR_000062" "g.11308007C>T" "" "" "" "MTOR(NM_004958.3):c.985G>A (p.(Ala329Thr), p.A329T), MTOR(NM_004958.4):c.985G>A (p.A329T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798667" "0" "30" "1" "11308007" "11308007" "subst" "0.00262352" "02325" "MTOR_000062" "g.11308007C>T" "" "" "" "MTOR(NM_004958.3):c.985G>A (p.(Ala329Thr), p.A329T), MTOR(NM_004958.4):c.985G>A (p.A329T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000821006" "0" "90" "1" "9200001" "12700000" "del" "0" "00000" "MTHFR_000084" "g.9200001_12700000del" "" "{PMID:Ruberto 2020:32507954}" "" "CGH array deletion in Cr1p36.22 involving NMNAT1 gene," "am apparent homozygous NMNAT1 mutation was found, probably on the other allele" "Unknown" "?" "" "0" "" "" "g.9100001_12500000del" "" "likely pathogenic" "" "0000837167" "0" "50" "1" "11174459" "11174459" "subst" "0" "02494" "MTOR_000033" "g.11174459C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "VUS" "" "0000848229" "0" "90" "1" "11184574" "11184574" "subst" "0" "02326" "MTOR_000116" "g.11184574A>G" "" "" "" "MTOR(NM_004958.3):c.6643T>C (p.S2215P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848230" "0" "30" "1" "11190698" "11190698" "subst" "0.000370822" "02326" "MTOR_000118" "g.11190698G>A" "" "" "" "MTOR(NM_004958.3):c.5501C>T (p.T1834M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848231" "0" "90" "1" "11190804" "11190804" "subst" "0" "01943" "MTOR_000013" "g.11190804C>T" "" "" "" "MTOR(NM_004958.3):c.5395G>A (p.E1799K, p.(Glu1799Lys)), MTOR(NM_004958.4):c.5395G>A (p.E1799K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848233" "0" "10" "1" "11316244" "11316244" "subst" "0.00337598" "02330" "MTOR_000086" "g.11316244C>G" "" "" "" "MTOR(NM_004958.3):c.510G>C (p.L170=), MTOR(NM_004958.4):c.510G>C (p.L170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856873" "0" "10" "1" "11169420" "11169420" "subst" "0.00322271" "01804" "MTOR_000007" "g.11169420G>A" "" "" "" "MTOR(NM_004958.3):c.7455C>T (p.D2485=, p.(Asp2485=)), MTOR(NM_004958.4):c.7455C>T (p.D2485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856874" "0" "10" "1" "11182063" "11182063" "subst" "0.00254434" "02330" "MTOR_000115" "g.11182063G>A" "" "" "" "MTOR(NM_004958.4):c.6783C>T (p.L2261=, p.(Leu2261=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856875" "0" "30" "1" "11184593" "11184593" "subst" "0.00506814" "01804" "MTOR_000010" "g.11184593A>G" "" "" "" "MTOR(NM_001386500.1):c.6624T>C (p.L2208=), MTOR(NM_004958.3):c.6624T>C (p.(Leu2208=), p.L2208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856876" "0" "50" "1" "11188164" "11188164" "subst" "0" "01943" "MTOR_000117" "g.11188164G>A" "" "" "" "MTOR(NM_004958.3):c.5930C>T (p.T1977I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856877" "0" "30" "1" "11190688" "11190705" "dup" "0" "01804" "MTOR_000083" "g.11190688_11190705dup" "" "" "" "MTOR(NM_004958.3):c.5502_5519dup (p.(Ala1835_Thr1840dup)), MTOR(NM_004958.3):c.5502_5519dupGGCCGCCACTGCCACCAC (p.A1835_T1840dup), MTOR(NM_004958.4)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856878" "0" "30" "1" "11190688" "11190705" "dup" "0" "02325" "MTOR_000083" "g.11190688_11190705dup" "" "" "" "MTOR(NM_004958.3):c.5502_5519dup (p.(Ala1835_Thr1840dup)), MTOR(NM_004958.3):c.5502_5519dupGGCCGCCACTGCCACCAC (p.A1835_T1840dup), MTOR(NM_004958.4)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856879" "0" "90" "1" "11190804" "11190804" "subst" "0" "01804" "MTOR_000013" "g.11190804C>T" "" "" "" "MTOR(NM_004958.3):c.5395G>A (p.E1799K, p.(Glu1799Lys)), MTOR(NM_004958.4):c.5395G>A (p.E1799K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856881" "0" "30" "1" "11199475" "11199475" "subst" "0.000199072" "01804" "MTOR_000119" "g.11199475A>G" "" "" "" "MTOR(NM_004958.3):c.5016T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856882" "0" "50" "1" "11199647" "11199647" "subst" "0.000158372" "01943" "MTOR_000100" "g.11199647A>C" "" "" "" "MTOR(NM_004958.3):c.4941T>G (p.H1647Q, p.(His1647Gln)), MTOR(NM_004958.4):c.4941T>G (p.H1647Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856883" "0" "30" "1" "11264768" "11264768" "subst" "4.49438E-5" "01804" "MTOR_000050" "g.11264768C>A" "" "" "" "MTOR(NM_004958.3):c.3802-8G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856884" "0" "10" "1" "11298631" "11298631" "subst" "0.00147941" "01804" "MTOR_000059" "g.11298631G>A" "" "" "" "MTOR(NM_004958.3):c.1830C>T (p.F610=, p.(Phe610=)), MTOR(NM_004958.4):c.1830C>T (p.F610=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856885" "0" "30" "1" "11316091" "11316091" "subst" "0.000999261" "01804" "MTOR_000097" "g.11316091G>C" "" "" "" "MTOR(NM_004958.3):c.663C>G (p.T221=, p.(Thr221=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882679" "0" "50" "1" "11184597" "11184597" "subst" "0" "02330" "MTOR_000120" "g.11184597G>A" "" "" "" "MTOR(NM_004958.4):c.6620C>T (p.T2207I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882681" "0" "30" "1" "11249803" "11249803" "subst" "0.000126051" "02325" "MTOR_000121" "g.11249803T>C" "" "" "" "MTOR(NM_004958.4):c.4253+9512A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882683" "0" "50" "1" "11273522" "11273522" "subst" "0" "02329" "MTOR_000122" "g.11273522C>G" "" "" "" "MTOR(NM_004958.4):c.3219G>C (p.Q1073H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882684" "0" "30" "1" "11300546" "11300546" "subst" "2.43641E-5" "02325" "MTOR_000123" "g.11300546C>T" "" "" "" "MTOR(NM_004958.3):c.1600G>A (p.(Asp534Asn)), MTOR(NM_004958.4):c.1600G>A (p.D534N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000902227" "0" "50" "1" "11184567" "11184567" "subst" "0" "03779" "MTOR_000124" "g.11184567C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000910738" "0" "30" "1" "11190736" "11190736" "subst" "1.27359E-5" "02330" "MTOR_000125" "g.11190736G>A" "" "" "" "MTOR(NM_001386500.1):c.5463C>T (p.S1821=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910739" "0" "10" "1" "11199448" "11199448" "subst" "0.00275675" "02330" "MTOR_000126" "g.11199448C>T" "" "" "" "MTOR(NM_001386500.1):c.5043G>A (p.P1681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910740" "0" "50" "1" "11210190" "11210190" "subst" "0" "02325" "MTOR_000127" "g.11210190C>A" "" "" "" "MTOR(NM_004958.4):c.4563G>T (p.W1521C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910745" "0" "50" "1" "11298057" "11298057" "subst" "0" "02325" "MTOR_000128" "g.11298057T>C" "" "" "" "MTOR(NM_004958.4):c.2051A>G (p.D684G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918065" "0" "70" "1" "11188183" "11188183" "subst" "0" "01164" "MTOR_000129" "g.11188183C>T" "" "" "" "" "ACMG: PS2_MOD, PP3_MOD, PS4_SUP, PM2_SUP, PM5_SUP, PP2, confirmed de novo in trio-exome" "De novo" "-" "" "" "" "" "g.11128126C>T" "VCV001320130.1" "likely pathogenic (dominant)" "ACMG" "0000922912" "0" "90" "1" "11217230" "11217230" "subst" "0" "02329" "MTOR_000130" "g.11217230C>T" "" "" "" "MTOR(NM_001386500.1):c.4448G>A (p.C1483Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000927978" "0" "30" "1" "11294196" "11294196" "subst" "0" "02325" "MTOR_000131" "g.11294196T>G" "" "" "" "MTOR(NM_004958.4):c.2331+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960377" "0" "10" "1" "11184593" "11184593" "subst" "0.00506814" "02330" "MTOR_000010" "g.11184593A>G" "" "" "" "MTOR(NM_001386500.1):c.6624T>C (p.L2208=), MTOR(NM_004958.3):c.6624T>C (p.(Leu2208=), p.L2208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000960381" "0" "50" "1" "11259709" "11259709" "subst" "8.12612E-6" "02325" "MTOR_000070" "g.11259709A>T" "" "" "" "MTOR(NM_004958.3):c.3996T>A (p.D1332E, p.(Asp1332Glu)), MTOR(NM_004958.4):c.3996T>A (p.D1332E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960382" "0" "30" "1" "11272478" "11272478" "subst" "0.000178839" "02326" "MTOR_000111" "g.11272478T>C" "" "" "" "MTOR(NM_004958.3):c.3452A>G (p.(Tyr1151Cys), p.Y1151C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960383" "0" "50" "1" "11307709" "11307709" "subst" "4.06065E-6" "02325" "MTOR_000132" "g.11307709C>T" "" "" "" "MTOR(NM_004958.4):c.1198G>A (p.(Ala400Thr), p.A400T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973174" "0" "30" "1" "11186669" "11186669" "subst" "1.22224E-5" "01804" "MTOR_000133" "g.11186669T>C" "" "" "" "MTOR(NM_004958.4):c.6526+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973175" "0" "30" "1" "11187693" "11187693" "subst" "0.000187849" "01804" "MTOR_000134" "g.11187693T>C" "" "" "" "MTOR(NM_004958.4):c.6204A>G (p.(Thr2068=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973176" "0" "50" "1" "11187767" "11187767" "subst" "4.06174E-6" "01804" "MTOR_000135" "g.11187767C>T" "" "" "" "MTOR(NM_004958.4):c.6130G>A (p.(Val2044Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973177" "0" "30" "1" "11194532" "11194532" "subst" "4.06564E-6" "01804" "MTOR_000136" "g.11194532G>C" "" "" "" "MTOR(NM_004958.4):c.5131-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973178" "0" "30" "1" "11204736" "11204736" "subst" "0.00019496" "02326" "MTOR_000137" "g.11204736A>G" "" "" "" "MTOR(NM_004958.3):c.4841T>C (p.I1614T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973184" "0" "30" "1" "11313993" "11313993" "subst" "4.87274E-5" "02326" "MTOR_000138" "g.11313993G>A" "" "" "" "MTOR(NM_004958.3):c.743C>T (p.T248I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973185" "0" "30" "1" "11316163" "11316163" "subst" "3.6558E-5" "01804" "MTOR_000139" "g.11316163G>A" "" "" "" "MTOR(NM_004958.4):c.591C>T (p.(Ala197=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973186" "0" "30" "1" "11317012" "11317012" "subst" "5.70037E-5" "02325" "MTOR_000140" "g.11317012T>C" "" "" "" "MTOR(NM_004958.4):c.482A>G (p.N161S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985808" "0" "90" "1" "11169361" "11169361" "subst" "0" "00006" "MTOR_000141" "g.11169361C>G" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "De novo" "" "" "0" "" "" "g.11109304C>G" "" "pathogenic (dominant)" "" "0000985809" "0" "90" "1" "11190804" "11190804" "subst" "0" "00006" "MTOR_000013" "g.11190804C>T" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.11130747C>T" "" "pathogenic (dominant)" "" "0000990099" "0" "30" "1" "11181361" "11181361" "subst" "3.2495E-5" "01804" "MTOR_000142" "g.11181361T>C" "" "" "" "MTOR(NM_004958.3):c.6875A>G (p.(Asn2292Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990100" "0" "50" "1" "11187844" "11187844" "subst" "0" "01804" "MTOR_000143" "g.11187844C>T" "" "" "" "MTOR(NM_004958.3):c.6053G>A (p.(Arg2018Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990101" "0" "30" "1" "11190707" "11190718" "del" "0" "01804" "MTOR_000144" "g.11190707_11190718del" "" "" "" "MTOR(NM_004958.3):c.5490_5501delTGCCGCCACCAC (p.(Ala1831_Thr1834del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990102" "0" "50" "1" "11190747" "11190747" "subst" "0" "01804" "MTOR_000145" "g.11190747G>A" "" "" "" "MTOR(NM_004958.3):c.5452C>T (p.(Arg1818Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990103" "0" "30" "1" "11194509" "11194509" "subst" "0" "01804" "MTOR_000146" "g.11194509C>G" "" "" "" "MTOR(NM_004958.3):c.5145G>C (p.(Gln1715His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990105" "0" "30" "1" "11210278" "11210278" "subst" "5.29782E-5" "01804" "MTOR_000147" "g.11210278T>C" "" "" "" "MTOR(NM_004958.3):c.4475A>G (p.(Gln1492Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990111" "0" "30" "1" "11259709" "11259709" "subst" "8.12612E-6" "01804" "MTOR_000070" "g.11259709A>T" "" "" "" "MTOR(NM_004958.3):c.3996T>A (p.D1332E, p.(Asp1332Glu)), MTOR(NM_004958.4):c.3996T>A (p.D1332E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990112" "0" "30" "1" "11272455" "11272455" "subst" "8.12843E-6" "01804" "MTOR_000148" "g.11272455T>C" "" "" "" "MTOR(NM_004958.3):c.3475A>G (p.(Ile1159Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990113" "0" "50" "1" "11273472" "11273472" "subst" "4.08223E-6" "01804" "MTOR_000149" "g.11273472C>G" "" "" "" "MTOR(NM_004958.3):c.3269G>C (p.(Arg1090Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990114" "0" "50" "1" "11290999" "11290999" "subst" "0" "01804" "MTOR_000150" "g.11290999T>C" "" "" "" "MTOR(NM_004958.3):c.2762A>G (p.(Lys921Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990115" "0" "50" "1" "11297985" "11297985" "subst" "1.2213E-5" "01804" "MTOR_000151" "g.11297985C>T" "" "" "" "MTOR(NM_004958.3):c.2123G>A (p.(Arg708Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990116" "0" "50" "1" "11298067" "11298067" "subst" "0" "01804" "MTOR_000152" "g.11298067C>G" "" "" "" "MTOR(NM_004958.3):c.2041G>C (p.(Glu681Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990117" "0" "50" "1" "11300540" "11300540" "subst" "0" "01804" "MTOR_000153" "g.11300540G>T" "" "" "" "MTOR(NM_004958.3):c.1606C>A (p.(Gln536Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990118" "0" "30" "1" "11300546" "11300546" "subst" "2.43641E-5" "01804" "MTOR_000123" "g.11300546C>T" "" "" "" "MTOR(NM_004958.3):c.1600G>A (p.(Asp534Asn)), MTOR(NM_004958.4):c.1600G>A (p.D534N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990119" "0" "50" "1" "11307977" "11307977" "subst" "4.06072E-6" "01804" "MTOR_000154" "g.11307977G>A" "" "" "" "MTOR(NM_004958.3):c.1015C>T (p.(His339Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990120" "0" "50" "1" "11316093" "11316093" "subst" "0" "01804" "MTOR_000155" "g.11316093T>C" "" "" "" "MTOR(NM_004958.3):c.661A>G (p.(Thr221Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990121" "0" "30" "1" "11319406" "11319406" "subst" "2.91856E-5" "01804" "MTOR_000156" "g.11319406C>T" "" "" "" "MTOR(NM_004958.3):c.61G>A (p.(Val21Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990122" "0" "30" "1" "11319415" "11319415" "subst" "0" "01804" "MTOR_000157" "g.11319415T>C" "" "" "" "MTOR(NM_004958.3):c.52A>G (p.(Asn18Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013192" "0" "10" "1" "11174850" "11174850" "subst" "0.00305532" "02330" "MTOR_000158" "g.11174850C>T" "" "" "" "MTOR(NM_001386500.1):c.7164+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013193" "0" "10" "1" "11194399" "11194399" "subst" "0.00937983" "02330" "MTOR_000159" "g.11194399G>A" "" "" "" "MTOR(NM_001386500.1):c.5246+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013194" "0" "10" "1" "11194400" "11194400" "subst" "0.00937325" "02330" "MTOR_000160" "g.11194400G>C" "" "" "" "MTOR(NM_001386500.1):c.5246+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001031056" "0" "30" "1" "11182036" "11182036" "subst" "0" "01804" "MTOR_000161" "g.11182036C>T" "" "" "" "MTOR(NM_004958.4):c.6810G>A (p.(Arg2270=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031057" "0" "30" "1" "11194457" "11194457" "subst" "0.000125888" "01804" "MTOR_000162" "g.11194457C>T" "" "" "" "MTOR(NM_004958.4):c.5197G>A (p.(Ala1733Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031061" "0" "30" "1" "11199647" "11199647" "subst" "0.000158372" "02325" "MTOR_000100" "g.11199647A>C" "" "" "" "MTOR(NM_004958.3):c.4941T>G (p.H1647Q, p.(His1647Gln)), MTOR(NM_004958.4):c.4941T>G (p.H1647Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031062" "0" "30" "1" "11204698" "11204698" "subst" "0" "01804" "MTOR_000163" "g.11204698A>G" "" "" "" "MTOR(NM_004958.4):c.4872+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031063" "0" "50" "1" "11227537" "11227537" "subst" "0" "02329" "MTOR_000095" "g.11227537C>T" "" "" "" "MTOR(NM_004958.4):c.4291G>A (p.G1431R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031067" "0" "50" "1" "11316159" "11316159" "subst" "0" "01804" "MTOR_000164" "g.11316159A>G" "" "" "" "MTOR(NM_004958.4):c.595T>C (p.(Trp199Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049034" "0" "90" "1" "11217230" "11217230" "subst" "0" "00006" "MTOR_000165" "g.11217230C>A" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.4448G>T" "" "De novo" "" "" "0" "" "" "g.11157173C>A" "" "pathogenic (dominant)" "" "0001049911" "0" "10" "1" "11182063" "11182063" "subst" "0.00254434" "01804" "MTOR_000115" "g.11182063G>A" "" "" "" "MTOR(NM_004958.4):c.6783C>T (p.L2261=, p.(Leu2261=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001049912" "0" "90" "1" "11184573" "11184573" "subst" "0" "02327" "MTOR_000166" "g.11184573G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001049913" "0" "10" "1" "11190730" "11190730" "subst" "0.0248355" "01804" "MTOR_000068" "g.11190730G>A" "" "" "" "MTOR(NM_004958.4):c.5469C>T (p.A1823=, p.(Ala1823=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001049914" "0" "30" "1" "11217226" "11217226" "subst" "2.89836E-5" "01804" "MTOR_000167" "g.11217226G>A" "" "" "" "MTOR(NM_004958.4):c.4452C>T (p.(Leu1484=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049915" "0" "50" "1" "11217248" "11217248" "subst" "1.2233E-5" "01804" "MTOR_000168" "g.11217248A>G" "" "" "" "MTOR(NM_004958.4):c.4430T>C (p.(Met1477Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049916" "0" "50" "1" "11294222" "11294223" "ins" "0" "01804" "MTOR_000169" "g.11294222_11294223insAAGG" "" "" "" "MTOR(NM_004958.4):c.2311_2312insTCCT (p.(Tyr771Phefs*20))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049917" "0" "50" "1" "11307709" "11307709" "subst" "4.06065E-6" "01804" "MTOR_000132" "g.11307709C>T" "" "" "" "MTOR(NM_004958.4):c.1198G>A (p.(Ala400Thr), p.A400T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049918" "0" "30" "1" "11316257" "11316257" "subst" "7.87088E-5" "01804" "MTOR_000170" "g.11316257A>T" "" "" "" "MTOR(NM_004958.4):c.505-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 MTOR ## Count = 210 "{{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}}" "0000003376" "00000842" "50" "2422" "-296" "2422" "-296" "c.2422-296T>C" "r.(=)" "p.(=)" "" "0000003377" "00000842" "50" "2421" "308" "2421" "308" "c.2421+308G>A" "r.(=)" "p.(=)" "" "0000003378" "00000842" "50" "2421" "255" "2421" "255" "c.2421+255G>A" "r.(=)" "p.(=)" "" "0000011362" "00000842" "50" "2421" "308" "2421" "308" "c.2421+308G>A" "r.(=)" "p.(=)" "" "0000011363" "00000842" "50" "2421" "255" "2421" "255" "c.2421+255G>A" "r.(=)" "p.(=)" "" "0000169256" "00000842" "00" "6928" "0" "6928" "0" "c.6928T>C" "r.(?)" "p.(Ser2310Pro)" "" "0000245437" "00000842" "10" "1437" "0" "1437" "0" "c.1437T>C" "r.(?)" "p.(Asp479=)" "" "0000251758" "00000842" "30" "6624" "0" "6624" "0" "c.6624T>C" "r.(?)" "p.(Leu2208=)" "" "0000280066" "00000842" "10" "2997" "0" "2997" "0" "c.2997C>T" "r.(?)" "p.(Asn999=)" "" "0000280067" "00000842" "10" "4731" "0" "4731" "0" "c.4731G>A" "r.(?)" "p.(Ala1577=)" "" "0000280068" "00000842" "10" "5553" "0" "5553" "0" "c.5553C>T" "r.(?)" "p.(Ser1851=)" "" "0000280069" "00000842" "10" "6909" "0" "6909" "0" "c.6909G>A" "r.(?)" "p.(Leu2303=)" "" "0000282664" "00000842" "50" "7336" "0" "7341" "0" "c.7336_7341del" "r.(?)" "p.(Thr2446_Asp2447del)" "" "0000283749" "00000842" "90" "5395" "0" "5395" "0" "c.5395G>A" "r.(?)" "p.(Glu1799Lys)" "" "0000286697" "00000842" "30" "2301" "0" "2301" "0" "c.2301C>T" "r.(?)" "p.(Leu767=)" "" "0000286698" "00000842" "30" "272" "-13" "272" "-13" "c.272-13C>G" "r.(=)" "p.(=)" "" "0000286699" "00000842" "30" "5910" "17" "5910" "17" "c.5910+17G>A" "r.(=)" "p.(=)" "" "0000292130" "00000842" "30" "7455" "0" "7455" "0" "c.7455C>T" "r.(?)" "p.(Asp2485=)" "" "0000341185" "00000842" "70" "4555" "0" "4555" "0" "c.4555G>A" "r.(?)" "p.(Ala1519Thr)" "" "0000346752" "00000842" "50" "1502" "0" "1502" "0" "c.1502T>C" "r.(?)" "p.(Ile501Thr)" "" "0000349294" "00000842" "30" "4598" "0" "4598" "0" "c.4598C>A" "r.(?)" "p.(Thr1533Asn)" "" "0000349893" "00000842" "50" "3564" "0" "3564" "0" "c.3564C>A" "r.(?)" "p.(Tyr1188Ter)" "" "0000453955" "00000842" "90" "7235" "0" "7235" "0" "c.7235A>T" "r.(?)" "p.(Asp2412Val)" "" "0000465652" "00000842" "70" "5930" "0" "5930" "0" "c.5930C>A" "r.(?)" "p.(Thr1977Lys)" "" "0000478730" "00000842" "50" "5845" "0" "5845" "0" "c.5845C>G" "r.(?)" "p.(Pro1949Ala)" "" "0000502448" "00000842" "30" "7607" "0" "7607" "0" "c.7607A>C" "r.(?)" "p.(Glu2536Ala)" "" "0000502450" "00000842" "30" "7455" "0" "7455" "0" "c.7455C>T" "r.(?)" "p.(Asp2485=)" "" "0000502451" "00000842" "30" "7378" "0" "7378" "0" "c.7378G>A" "r.(?)" "p.(Gly2460Ser)" "" "0000502453" "00000842" "70" "7216" "0" "7216" "0" "c.7216G>A" "r.(?)" "p.(Val2406Met)" "" "0000502455" "00000842" "30" "5952" "0" "5952" "0" "c.5952G>A" "r.(?)" "p.(Thr1984=)" "" "0000502456" "00000842" "30" "5812" "-19" "5812" "-19" "c.5812-19G>A" "r.(=)" "p.(=)" "" "0000502457" "00000842" "30" "5811" "13" "5811" "13" "c.5811+13G>A" "r.(=)" "p.(=)" "" "0000502459" "00000842" "30" "5653" "0" "5653" "0" "c.5653G>A" "r.(?)" "p.(Val1885Ile)" "" "0000502460" "00000842" "30" "5600" "0" "5600" "0" "c.5600A>G" "r.(?)" "p.(Lys1867Arg)" "" "0000502461" "00000842" "50" "5600" "0" "5600" "0" "c.5600A>G" "r.(?)" "p.(Lys1867Arg)" "" "0000502462" "00000842" "10" "5553" "0" "5553" "0" "c.5553C>T" "r.(?)" "p.(Ser1851=)" "" "0000502463" "00000842" "30" "5516" "0" "5516" "0" "c.5516C>T" "r.(?)" "p.(Thr1839Ile)" "" "0000502464" "00000842" "90" "5395" "0" "5395" "0" "c.5395G>A" "r.(?)" "p.(Glu1799Lys)" "" "0000502465" "00000842" "30" "5247" "-8" "5247" "-8" "c.5247-8G>A" "r.(=)" "p.(=)" "" "0000502466" "00000842" "30" "4998" "12" "4998" "12" "c.4998+12C>A" "r.(=)" "p.(=)" "" "0000502467" "00000842" "50" "4922" "0" "4922" "0" "c.4922C>T" "r.(?)" "p.(Ser1641Phe)" "" "0000502468" "00000842" "30" "4908" "0" "4908" "0" "c.4908C>T" "r.(?)" "p.(Ile1636=)" "" "0000502469" "00000842" "50" "4732" "0" "4732" "0" "c.4732A>G" "r.(?)" "p.(Met1578Val)" "" "0000502470" "00000842" "70" "4456" "0" "4456" "0" "c.4456G>T" "r.(?)" "p.(Ala1486Ser)" "" "0000502499" "00000842" "30" "4253" "5599" "4253" "5599" "c.4253+5599C>T" "r.(=)" "p.(=)" "" "0000502500" "00000842" "50" "4169" "0" "4169" "0" "c.4169G>A" "r.(?)" "p.(Cys1390Tyr)" "" "0000502502" "00000842" "30" "3802" "-8" "3802" "-8" "c.3802-8G>T" "r.(=)" "p.(=)" "" "0000502503" "00000842" "30" "3630" "0" "3630" "0" "c.3630T>C" "r.(?)" "p.(Asp1210=)" "" "0000502505" "00000842" "30" "2805" "0" "2805" "0" "c.2805G>A" "r.(?)" "p.(Leu935=)" "" "0000502506" "00000842" "50" "2650" "-2" "2650" "-2" "c.2650-2A>G" "r.spl?" "p.?" "" "0000502507" "00000842" "30" "2387" "0" "2387" "0" "c.2387A>G" "r.(?)" "p.(Asn796Ser)" "" "0000502508" "00000842" "30" "2208" "17" "2208" "17" "c.2208+17C>T" "r.(=)" "p.(=)" "" "0000502509" "00000842" "30" "2070" "0" "2070" "0" "c.2070G>A" "r.(?)" "p.(Ala690=)" "" "0000502510" "00000842" "30" "2031" "0" "2031" "0" "c.2031G>A" "r.(?)" "p.(Ala677=)" "" "0000502511" "00000842" "30" "1830" "0" "1830" "0" "c.1830C>T" "r.(?)" "p.(Phe610=)" "" "0000502512" "00000842" "30" "1566" "0" "1566" "0" "c.1566C>T" "r.(?)" "p.(Tyr522=)" "" "0000502513" "00000842" "10" "1412" "18" "1412" "18" "c.1412+18G>T" "r.(=)" "p.(=)" "" "0000502514" "00000842" "30" "985" "0" "985" "0" "c.985G>A" "r.(?)" "p.(Ala329Thr)" "" "0000604651" "00000842" "30" "7314" "0" "7314" "0" "c.7314C>T" "r.(?)" "p.(Gly2438=)" "" "0000604652" "00000842" "50" "7314" "0" "7314" "0" "c.7314C>T" "r.(?)" "p.(Gly2438=)" "" "0000604653" "00000842" "30" "5812" "-19" "5812" "-19" "c.5812-19G>A" "r.(=)" "p.(=)" "" "0000604654" "00000842" "30" "5811" "13" "5811" "13" "c.5811+13G>A" "r.(=)" "p.(=)" "" "0000604656" "00000842" "50" "5499" "0" "5510" "0" "c.5499_5510del" "r.(?)" "p.(Thr1834_Thr1837del)" "" "0000604663" "00000842" "30" "3630" "0" "3630" "0" "c.3630T>C" "r.(?)" "p.(Asp1210=)" "" "0000604664" "00000842" "30" "2879" "0" "2879" "0" "c.2879G>A" "r.(?)" "p.(Arg960Gln)" "" "0000604665" "00000842" "30" "2070" "0" "2070" "0" "c.2070G>A" "r.(?)" "p.(Ala690=)" "" "0000604666" "00000842" "30" "1731" "0" "1731" "0" "c.1731C>T" "r.(?)" "p.(Ser577=)" "" "0000620332" "00000842" "10" "7164" "19" "7164" "19" "c.7164+19C>T" "r.(=)" "p.(=)" "" "0000620333" "00000842" "10" "6034" "-30" "6034" "-30" "c.6034-30A>G" "r.(=)" "p.(=)" "" "0000620334" "00000842" "10" "5469" "0" "5469" "0" "c.5469C>T" "r.(?)" "p.(Ala1823=)" "" "0000620335" "00000842" "10" "4731" "0" "4731" "0" "c.4731G>A" "r.(?)" "p.(Ala1577=)" "" "0000620336" "00000842" "70" "4356" "0" "4356" "0" "c.4356A>T" "r.(?)" "p.(Lys1452Asn)" "" "0000620338" "00000842" "50" "3996" "0" "3996" "0" "c.3996T>A" "r.(?)" "p.(Asp1332Glu)" "" "0000620339" "00000842" "10" "3462" "0" "3462" "0" "c.3462G>C" "r.(?)" "p.(Arg1154=)" "" "0000620340" "00000842" "10" "3030" "107" "3030" "107" "c.3030+107C>T" "r.(=)" "p.(=)" "" "0000620341" "00000842" "10" "3030" "92" "3030" "92" "c.3030+92C>G" "r.(=)" "p.(=)" "" "0000620342" "00000842" "10" "2997" "0" "2997" "0" "c.2997C>T" "r.(?)" "p.(Asn999=)" "" "0000620343" "00000842" "10" "2422" "-81" "2422" "-81" "c.2422-81A>T" "r.(=)" "p.(=)" "" "0000620344" "00000842" "10" "2421" "308" "2421" "308" "c.2421+308G>A" "r.(=)" "p.(=)" "" "0000620345" "00000842" "10" "2421" "255" "2421" "255" "c.2421+255G>A" "r.(=)" "p.(=)" "" "0000620346" "00000842" "10" "2209" "-152" "2209" "-152" "c.2209-152A>T" "r.(=)" "p.(=)" "" "0000620347" "00000842" "10" "2208" "138" "2208" "138" "c.2208+138A>G" "r.(=)" "p.(=)" "" "0000620348" "00000842" "30" "1500" "0" "1500" "0" "c.1500T>C" "r.(?)" "p.(Asp500=)" "" "0000620349" "00000842" "10" "1437" "0" "1437" "0" "c.1437T>C" "r.(?)" "p.(Asp479=)" "" "0000620350" "00000842" "10" "272" "-98" "272" "-98" "c.272-98G>A" "r.(=)" "p.(=)" "" "0000620351" "00000842" "10" "-14" "-107" "-14" "-107" "c.-14-107T>C" "r.(=)" "p.(=)" "" "0000620352" "00000842" "10" "-78" "0" "-78" "0" "c.-78G>C" "r.(?)" "p.(=)" "" "0000653584" "00000842" "30" "5502" "0" "5519" "0" "c.5502_5519dup" "r.(?)" "p.(Ala1835_Thr1840dup)" "" "0000653585" "00000842" "30" "4050" "0" "4050" "0" "c.4050C>T" "r.(?)" "p.(Ile1350=)" "" "0000653586" "00000842" "10" "1830" "0" "1830" "0" "c.1830C>T" "r.(?)" "p.(Phe610=)" "" "0000653587" "00000842" "30" "1629" "0" "1629" "0" "c.1629G>A" "r.(?)" "p.(Leu543=)" "" "0000653588" "00000842" "30" "642" "0" "642" "0" "c.642T>A" "r.(?)" "p.(Arg214=)" "" "0000653589" "00000842" "30" "510" "0" "510" "0" "c.510G>C" "r.(?)" "p.(Leu170=)" "" "0000653590" "00000842" "30" "423" "0" "423" "0" "c.423C>T" "r.(?)" "p.(Thr141=)" "" "0000673684" "00000842" "50" "7501" "0" "7501" "0" "c.7501A>G" "r.(?)" "p.(Ile2501Val)" "" "0000675202" "00000842" "70" "4899" "0" "4899" "0" "c.4899G>A" "r.(?)" "p.(Trp1633*)" "" "0000675398" "00000842" "50" "5249" "0" "5249" "0" "c.5249G>A" "r.(?)" "p.(Cys1750Tyr)" "" "0000675399" "00000842" "30" "5246" "18" "5246" "18" "c.5246+18C>G" "r.(=)" "p.(=)" "" "0000675400" "00000842" "30" "5133" "0" "5133" "0" "c.5133C>T" "r.(?)" "p.(Ile1711=)" "" "0000675401" "00000842" "50" "4291" "0" "4291" "0" "c.4291G>A" "r.(?)" "p.(Gly1431Arg)" "" "0000675404" "00000842" "30" "3981" "0" "3981" "0" "c.3981T>C" "r.(?)" "p.(Ser1327=)" "" "0000675405" "00000842" "30" "663" "0" "663" "0" "c.663C>G" "r.(?)" "p.(Thr221=)" "" "0000675406" "00000842" "30" "-14" "-8" "-14" "-8" "c.-14-8C>T" "r.(=)" "p.(=)" "" "0000682739" "00000842" "70" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151*)" "" "0000682740" "00000842" "70" "4898" "0" "4898" "0" "c.4898G>A" "r.(?)" "p.(Trp1633*)" "" "0000682741" "00000842" "70" "4899" "0" "4899" "0" "c.4899G>A" "r.(?)" "p.(Trp1633*)" "" "0000682765" "00000842" "70" "6126" "0" "6127" "0" "c.6126_6127insTTACA" "r.(?)" "p.(Asn2043Leufs*4)" "" "0000687805" "00000842" "30" "4941" "0" "4941" "0" "c.4941T>G" "r.(?)" "p.(His1647Gln)" "" "0000687808" "00000842" "50" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Cys)" "" "0000687809" "00000842" "30" "2472" "0" "2472" "0" "c.2472C>T" "r.(?)" "p.(Ile824=)" "" "0000687810" "00000842" "30" "1830" "0" "1830" "0" "c.1830C>T" "r.(?)" "p.(Phe610=)" "" "0000687811" "00000842" "30" "1786" "15" "1786" "15" "c.1786+15C>T" "r.(=)" "p.(=)" "" "0000687812" "00000842" "30" "1500" "0" "1500" "0" "c.1500T>C" "r.(?)" "p.(Asp500=)" "" "0000710813" "00000842" "90" "6663" "-6" "6663" "-6" "NM_004958.3:c.6663-6C>T" "r.spl?" "p.?" "" "0000716681" "00000842" "30" "6663" "-9" "6663" "-9" "c.6663-9G>C" "r.(=)" "p.(=)" "" "0000716682" "00000842" "50" "5779" "0" "5779" "0" "c.5779dup" "r.(?)" "p.(Val1927Glyfs*7)" "" "0000716683" "00000842" "30" "5622" "0" "5622" "0" "c.5622C>T" "r.(?)" "p.(Ser1874=)" "" "0000716684" "00000842" "30" "5238" "0" "5238" "0" "c.5238C>T" "r.(?)" "p.(Leu1746=)" "" "0000716685" "00000842" "30" "4941" "0" "4941" "0" "c.4941T>G" "r.(?)" "p.(His1647Gln)" "" "0000716688" "00000842" "30" "4164" "0" "4164" "0" "c.4164C>T" "r.(?)" "p.(Ala1388=)" "" "0000716689" "00000842" "50" "4037" "0" "4037" "0" "c.4037C>T" "r.(?)" "p.(Thr1346Ile)" "" "0000716690" "00000842" "50" "3533" "0" "3533" "0" "c.3533C>T" "r.(?)" "p.(Ser1178Phe)" "" "0000716691" "00000842" "30" "3452" "0" "3452" "0" "c.3452A>G" "r.(?)" "p.(Tyr1151Cys)" "" "0000716692" "00000842" "30" "1566" "0" "1566" "0" "c.1566C>T" "r.(?)" "p.(Tyr522=)" "" "0000716693" "00000842" "30" "663" "0" "663" "0" "c.663C>G" "r.(?)" "p.(Thr221=)" "" "0000798663" "00000842" "30" "3802" "-4" "3802" "-4" "c.3802-4A>G" "r.spl?" "p.?" "" "0000798664" "00000842" "30" "3276" "0" "3276" "0" "c.3276C>T" "r.(?)" "p.(Val1092=)" "" "0000798665" "00000842" "30" "2412" "0" "2412" "0" "c.2412A>G" "r.(?)" "p.(Glu804=)" "" "0000798666" "00000842" "30" "985" "0" "985" "0" "c.985G>A" "r.(?)" "p.(Ala329Thr)" "" "0000798667" "00000842" "30" "985" "0" "985" "0" "c.985G>A" "r.(?)" "p.(Ala329Thr)" "" "0000821006" "00000842" "90" "-1377513" "0" "1975191" "0" "c.-1377513_*1967541del" "r.0?" "p.0?" "" "0000837167" "00000842" "50" "7216" "0" "7216" "0" "c.7216G>A" "r.(?)" "p.(Val2406Met)" "" "0000848229" "00000842" "90" "6643" "0" "6643" "0" "c.6643T>C" "r.(?)" "p.(Ser2215Pro)" "" "0000848230" "00000842" "30" "5501" "0" "5501" "0" "c.5501C>T" "r.(?)" "p.(Thr1834Met)" "" "0000848231" "00000842" "90" "5395" "0" "5395" "0" "c.5395G>A" "r.(?)" "p.(Glu1799Lys)" "" "0000848233" "00000842" "10" "510" "0" "510" "0" "c.510G>C" "r.(?)" "p.(Leu170=)" "" "0000856873" "00000842" "10" "7455" "0" "7455" "0" "c.7455C>T" "r.(?)" "p.(Asp2485=)" "" "0000856874" "00000842" "10" "6783" "0" "6783" "0" "c.6783C>T" "r.(?)" "p.(Leu2261=)" "" "0000856875" "00000842" "30" "6624" "0" "6624" "0" "c.6624T>C" "r.(?)" "p.(Leu2208=)" "" "0000856876" "00000842" "50" "5930" "0" "5930" "0" "c.5930C>T" "r.(?)" "p.(Thr1977Ile)" "" "0000856877" "00000842" "30" "5502" "0" "5519" "0" "c.5502_5519dup" "r.(?)" "p.(Ala1835_Thr1840dup)" "" "0000856878" "00000842" "30" "5502" "0" "5519" "0" "c.5502_5519dup" "r.(?)" "p.(Ala1835_Thr1840dup)" "" "0000856879" "00000842" "90" "5395" "0" "5395" "0" "c.5395G>A" "r.(?)" "p.(Glu1799Lys)" "" "0000856881" "00000842" "30" "5016" "0" "5016" "0" "c.5016T>C" "r.(?)" "p.(Thr1672=)" "" "0000856882" "00000842" "50" "4941" "0" "4941" "0" "c.4941T>G" "r.(?)" "p.(His1647Gln)" "" "0000856883" "00000842" "30" "3802" "-8" "3802" "-8" "c.3802-8G>T" "r.(=)" "p.(=)" "" "0000856884" "00000842" "10" "1830" "0" "1830" "0" "c.1830C>T" "r.(?)" "p.(Phe610=)" "" "0000856885" "00000842" "30" "663" "0" "663" "0" "c.663C>G" "r.(?)" "p.(Thr221=)" "" "0000882679" "00000842" "50" "6620" "0" "6620" "0" "c.6620C>T" "r.(?)" "p.(Thr2207Ile)" "" "0000882681" "00000842" "30" "4253" "9512" "4253" "9512" "c.4253+9512A>G" "r.(=)" "p.(=)" "" "0000882683" "00000842" "50" "3219" "0" "3219" "0" "c.3219G>C" "r.(?)" "p.(Gln1073His)" "" "0000882684" "00000842" "30" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Asp534Asn)" "" "0000902227" "00000842" "50" "6650" "0" "6650" "0" "c.6650G>A" "r.(?)" "p.(Arg2217Gln)" "" "0000910738" "00000842" "30" "5463" "0" "5463" "0" "c.5463C>T" "r.(?)" "p.(Ser1821=)" "" "0000910739" "00000842" "10" "5043" "0" "5043" "0" "c.5043G>A" "r.(?)" "p.(Pro1681=)" "" "0000910740" "00000842" "50" "4563" "0" "4563" "0" "c.4563G>T" "r.(?)" "p.(Trp1521Cys)" "" "0000910745" "00000842" "50" "2051" "0" "2051" "0" "c.2051A>G" "r.(?)" "p.(Asp684Gly)" "" "0000918065" "00000842" "70" "5911" "0" "5911" "0" "c.5911G>A" "r.(?)" "p.(Ala1971Thr)" "" "0000922912" "00000842" "90" "4448" "0" "4448" "0" "c.4448G>A" "r.(?)" "p.(Cys1483Tyr)" "" "0000927978" "00000842" "30" "2331" "4" "2331" "4" "c.2331+4A>C" "r.spl?" "p.?" "" "0000960377" "00000842" "10" "6624" "0" "6624" "0" "c.6624T>C" "r.(?)" "p.(Leu2208=)" "" "0000960381" "00000842" "50" "3996" "0" "3996" "0" "c.3996T>A" "r.(?)" "p.(Asp1332Glu)" "" "0000960382" "00000842" "30" "3452" "0" "3452" "0" "c.3452A>G" "r.(?)" "p.(Tyr1151Cys)" "" "0000960383" "00000842" "50" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Ala400Thr)" "" "0000973174" "00000842" "30" "6526" "10" "6526" "10" "c.6526+10A>G" "r.(=)" "p.(=)" "" "0000973175" "00000842" "30" "6204" "0" "6204" "0" "c.6204A>G" "r.(?)" "p.(=)" "" "0000973176" "00000842" "50" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Val2044Met)" "" "0000973177" "00000842" "30" "5131" "-9" "5131" "-9" "c.5131-9C>G" "r.(=)" "p.(=)" "" "0000973178" "00000842" "30" "4841" "0" "4841" "0" "c.4841T>C" "r.(?)" "p.(Ile1614Thr)" "" "0000973184" "00000842" "30" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Thr248Ile)" "" "0000973185" "00000842" "30" "591" "0" "591" "0" "c.591C>T" "r.(?)" "p.(=)" "" "0000973186" "00000842" "30" "482" "0" "482" "0" "c.482A>G" "r.(?)" "p.(Asn161Ser)" "" "0000985808" "00000842" "90" "7514" "0" "7514" "0" "c.7514G>C" "r.(?)" "p.(Arg2505Pro)" "" "0000985809" "00000842" "90" "5395" "0" "5395" "0" "c.5395G>A" "r.(?)" "p.(Glu1799Lys)" "" "0000990099" "00000842" "30" "6875" "0" "6875" "0" "c.6875A>G" "r.(?)" "p.(Asn2292Ser)" "" "0000990100" "00000842" "50" "6053" "0" "6053" "0" "c.6053G>A" "r.(?)" "p.(Arg2018Gln)" "" "0000990101" "00000842" "30" "5490" "0" "5501" "0" "c.5490_5501del" "r.(?)" "p.(Thr1834_Thr1837del)" "" "0000990102" "00000842" "50" "5452" "0" "5452" "0" "c.5452C>T" "r.(?)" "p.(Arg1818Cys)" "" "0000990103" "00000842" "30" "5145" "0" "5145" "0" "c.5145G>C" "r.(?)" "p.(Gln1715His)" "" "0000990105" "00000842" "30" "4475" "0" "4475" "0" "c.4475A>G" "r.(?)" "p.(Gln1492Arg)" "" "0000990111" "00000842" "30" "3996" "0" "3996" "0" "c.3996T>A" "r.(?)" "p.(Asp1332Glu)" "" "0000990112" "00000842" "30" "3475" "0" "3475" "0" "c.3475A>G" "r.(?)" "p.(Ile1159Val)" "" "0000990113" "00000842" "50" "3269" "0" "3269" "0" "c.3269G>C" "r.(?)" "p.(Arg1090Pro)" "" "0000990114" "00000842" "50" "2762" "0" "2762" "0" "c.2762A>G" "r.(?)" "p.(Lys921Arg)" "" "0000990115" "00000842" "50" "2123" "0" "2123" "0" "c.2123G>A" "r.(?)" "p.(Arg708Gln)" "" "0000990116" "00000842" "50" "2041" "0" "2041" "0" "c.2041G>C" "r.(?)" "p.(Glu681Gln)" "" "0000990117" "00000842" "50" "1606" "0" "1606" "0" "c.1606C>A" "r.(?)" "p.(Gln536Lys)" "" "0000990118" "00000842" "30" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Asp534Asn)" "" "0000990119" "00000842" "50" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(His339Tyr)" "" "0000990120" "00000842" "50" "661" "0" "661" "0" "c.661A>G" "r.(?)" "p.(Thr221Ala)" "" "0000990121" "00000842" "30" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Val21Ile)" "" "0000990122" "00000842" "30" "52" "0" "52" "0" "c.52A>G" "r.(?)" "p.(Asn18Asp)" "" "0001013192" "00000842" "10" "7164" "20" "7164" "20" "c.7164+20G>A" "r.(=)" "p.(=)" "" "0001013193" "00000842" "10" "5246" "9" "5246" "9" "c.5246+9C>T" "r.(=)" "p.(=)" "" "0001013194" "00000842" "10" "5246" "8" "5246" "8" "c.5246+8C>G" "r.(=)" "p.(=)" "" "0001031056" "00000842" "30" "6810" "0" "6810" "0" "c.6810G>A" "r.(?)" "p.(=)" "" "0001031057" "00000842" "30" "5197" "0" "5197" "0" "c.5197G>A" "r.(?)" "p.(Ala1733Thr)" "" "0001031061" "00000842" "30" "4941" "0" "4941" "0" "c.4941T>G" "r.(?)" "p.(His1647Gln)" "" "0001031062" "00000842" "30" "4872" "7" "4872" "7" "c.4872+7T>C" "r.(=)" "p.(=)" "" "0001031063" "00000842" "50" "4291" "0" "4291" "0" "c.4291G>A" "r.(?)" "p.(Gly1431Arg)" "" "0001031067" "00000842" "50" "595" "0" "595" "0" "c.595T>C" "r.(?)" "p.(Trp199Arg)" "" "0001049034" "00000842" "90" "4448" "0" "4448" "0" "c.4448G>T" "r.(?)" "p.(Cys1483Phe)" "" "0001049911" "00000842" "10" "6783" "0" "6783" "0" "c.6783C>T" "r.(?)" "p.(Leu2261=)" "" "0001049912" "00000842" "90" "6644" "0" "6644" "0" "c.6644C>T" "r.(?)" "p.(Ser2215Phe)" "" "0001049913" "00000842" "10" "5469" "0" "5469" "0" "c.5469C>T" "r.(?)" "p.(Ala1823=)" "" "0001049914" "00000842" "30" "4452" "0" "4452" "0" "c.4452C>T" "r.(?)" "p.(=)" "" "0001049915" "00000842" "50" "4430" "0" "4430" "0" "c.4430T>C" "r.(?)" "p.(Met1477Thr)" "" "0001049916" "00000842" "50" "2311" "0" "2312" "0" "c.2311_2312insTCCT" "r.(?)" "p.(Tyr771Phefs*20)" "" "0001049917" "00000842" "50" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Ala400Thr)" "" "0001049918" "00000842" "30" "505" "-8" "505" "-8" "c.505-8T>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003376" "0000000209" "0000003377" "0000000209" "0000003378" "0000000210" "0000011362" "0000000210" "0000011363" "0000104463" "0000169256" "0000219116" "0000453955" "0000227411" "0000465652" "0000235491" "0000478730" "0000307119" "0000673684" "0000308283" "0000675202" "0000308399" "0000682739" "0000308399" "0000682740" "0000308399" "0000682741" "0000308402" "0000682765" "0000327159" "0000710813" "0000391270" "0000821006" "0000402888" "0000837167" "0000432541" "0000918065" "0000451891" "0000985808" "0000451892" "0000985809" "0000468940" "0001049034"