### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HRAS) # 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}}" "HRAS" "v-Ha-ras Harvey rat sarcoma viral oncogene homolog" "11" "p15.5" "unknown" "NG_007666.1" "UD_132084423554" "" "http://www.LOVD.nl/HRAS" "" "1" "5173" "3265" "190020" "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/HRAS_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2012-05-01 00:00:00" "00006" "2016-11-25 11:15:44" "00000" "2025-09-18 13:44:16" ## 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}}" "00024203" "HRAS" "Harvey rat sarcoma viral oncogene homolog, transcript variant 1" "002" "NM_005343.2" "" "NP_005334.1" "" "" "" "-188" "856" "570" "535550" "532242" "00006" "2016-11-25 11:17:56" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "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" "00315" "cancer, bladder" "cancer, bladder" "" "109800" "" "" "" "00006" "2014-01-28 14:01:22" "" "" "00554" "NMTC2" "cancer, thyroid, nonmedullary, type 2 (NMTC-2, follicular)" "AD;SMu" "188470" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00600" "-" "nevus, epidermal" "" "162900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-07-05 08:24:40" "00684" "SFM" "Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic" "" "163200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01343" "CMNS" "nevus syndrome, melanocytic, congenital, somatic" "" "137550" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01725" "CSTLO" "Costello syndrome (CSTLO, myopathy with excess of muscle spindles )" "AD" "218040" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{geneid}}" "{{diseaseid}}" "HRAS" "00139" "HRAS" "00315" "HRAS" "00554" "HRAS" "00600" "HRAS" "00684" "HRAS" "01343" "HRAS" "01725" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00081027" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00081037" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00295130" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306130" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "63" "00307797" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "F" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411109" "00374112" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "M" "" "France" "" "0" "" "" "" "" "00374113" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "M" "" "France" "" "0" "" "" "" "" "00383171" "" "" "" "1" "" "04172" "" "" "" "" "" "" "" "" "" "" "" "00410435" "" "" "" "1" "" "04322" "" "" "F" "no" "China" "" "" "" "" "" "Patient 9" "00418363" "" "" "" "1" "" "00006" "{PMID:Carlston 2019:30773818}" "2 generation family, 1 affected, unaffected carrier mother" "M" "" "United States" "" "0" "" "" "" "patient" "00419525" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "20020" "00453740" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV914" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00081027" "01725" "00081037" "01725" "00295130" "00198" "00306130" "01725" "00307797" "00139" "00374112" "00198" "00374113" "00198" "00383171" "01725" "00410435" "01725" "00418363" "00139" "00419525" "00198" "00453740" "00152" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00152, 00198, 00315, 00554, 00600, 00684, 01343, 01725 ## Count = 10 "{{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/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000060596" "01725" "00081027" "01758" "Isolated (sporadic)" "" "Costello syndrome (OMIM:218040)" "" "" "" "" "" "" "" "" "" "" "" "" "0000060606" "01725" "00081037" "01758" "Isolated (sporadic)" "" "Costello syndrome (OMIM:218040)" "" "" "" "" "" "" "" "" "" "" "" "" "0000231973" "01725" "00306130" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000269323" "00198" "00374112" "00006" "Isolated (sporadic)" "<0d" "24w-fetus, ultrasound Hydrops, cerebellar hypoplasia; autopsy Hydrops, interventricular communication, brachydactyly, partal vermian hypoplasia; Partal vermian hypoplasia" "" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "0000269324" "00198" "00374113" "00006" "Isolated (sporadic)" "<0d" "15w-fetus, ultrasound Fetal akinesia; autopsy Hydrops, retrognathia, posterior cleft palate; Posterior cleft palate" "" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "0000276958" "01725" "00383171" "04172" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000302542" "01725" "00410435" "04322" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309732" "00139" "00418363" "00006" "Familial, X-linked recessive" "02y" "see paper; ..., developmental delay, relative macrocephaly, dilated cardiomyopathy with LVNC and Ebstein anomaly.; MRI brain thick corpus callosum, mild Chiari I malformation, flattened pituitary" "" "" "" "" "" "" "" "" "" "MRXS34" "intellectual disability" "" "0000310806" "00198" "00419525" "02300" "Isolated (sporadic)" "1y" "" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" "" "0000342397" "00152" "00453740" "00006" "Unknown" "" "aortic valve replacement, ascending aortic replacement, mitral valve replacement; mitral valve prolapse, giant anterior mitral leaflet" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081139" "00081027" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081149" "00081037" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000296298" "00295130" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307261" "00306130" "1" "03695" "03695" "2020-07-08 17:37:11" "" "" "SEQ-NG" "DNA" "" "" "0000308937" "00307797" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000375305" "00374112" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000375306" "00374113" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000384396" "00383171" "1" "04172" "04172" "2021-09-27 03:37:41" "" "" "SEQ" "DNA" "" "" "0000411698" "00410435" "1" "04322" "04322" "2022-05-26 10:22:15" "" "" "SEQ-NG" "DNA" "" "" "0000419659" "00418363" "1" "00006" "00006" "2022-09-28 20:45:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420829" "00419525" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455352" "00453740" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000081139" "HRAS" "0000081149" "HRAS" "0000307261" "HRAS" "0000308937" "HRAS" "0000375305" "HRAS" "0000375306" "HRAS" "0000384396" "HRAS" "0000411698" "HRAS" ## 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 = 76 "{{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}}" "0000130225" "0" "90" "11" "534289" "534289" "subst" "0" "01758" "HRAS_000002" "g.534289C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.534289C>T" "" "pathogenic" "" "0000130235" "0" "90" "11" "534288" "534288" "subst" "0" "01758" "HRAS_000001" "g.534288C>G" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.534288C>G" "" "pathogenic" "" "0000246978" "0" "10" "11" "534242" "534242" "subst" "0.315697" "02330" "HRAS_000017" "g.534242A>G" "" "" "" "HRAS(NM_005343.2):c.81T>C (p.H27=), HRAS(NM_176795.5):c.81T>C (p.H27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.534242A>G" "" "benign" "" "0000253358" "0" "10" "11" "534242" "534242" "subst" "0.315697" "01943" "HRAS_000017" "g.534242A>G" "" "" "" "HRAS(NM_005343.2):c.81T>C (p.H27=), HRAS(NM_176795.5):c.81T>C (p.H27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.534242A>G" "" "benign" "" "0000256576" "0" "50" "11" "533529" "533529" "subst" "0" "01943" "HRAS_000006" "g.533529A>G" "" "" "" "HRAS(NM_005343.2):c.374T>C (p.V125A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.533529A>G" "" "VUS" "" "0000277777" "0" "10" "11" "534332" "534332" "subst" "0.04401" "02330" "HRAS_000018" "g.534332G>A" "" "" "" "HRAS(NM_005343.2):c.-10C>T, HRAS(NM_176795.5):c.-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.534332G>A" "" "benign" "" "0000277778" "0" "10" "11" "534197" "534197" "subst" "0.0735132" "02330" "HRAS_000007" "g.534197C>T" "" "" "" "HRAS(NM_005343.2):c.111+15G>A, HRAS(NM_176795.5):c.111+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.534197C>T" "" "benign" "" "0000277779" "0" "30" "11" "533311" "533311" "subst" "5.62707E-5" "02330" "HRAS_000004" "g.533311G>C" "" "" "" "HRAS(NM_176795.5):c.498C>G (p.P166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.533311G>C" "" "likely benign" "" "0000283427" "0" "30" "11" "533435" "533435" "subst" "0" "02329" "HRAS_000005" "g.533435G>A" "" "" "" "HRAS(NM_005343.2):c.450+18C>T, HRAS(NM_176795.4):c.450+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.533435G>A" "" "likely benign" "" "0000289183" "0" "10" "11" "534332" "534332" "subst" "0.04401" "01943" "HRAS_000018" "g.534332G>A" "" "" "" "HRAS(NM_005343.2):c.-10C>T, HRAS(NM_176795.5):c.-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.534332G>A" "" "benign" "" "0000289184" "0" "10" "11" "534403" "534414" "del" "0" "01943" "HRAS_000019" "g.534403_534414del" "" "" "" "HRAS(NM_005343.2):c.-53-35_-53-24delGCCTGGGCCTGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.534403_534414del" "" "benign" "" "0000289185" "0" "10" "11" "534197" "534197" "subst" "0.0735132" "01943" "HRAS_000007" "g.534197C>T" "" "" "" "HRAS(NM_005343.2):c.111+15G>A, HRAS(NM_176795.5):c.111+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.534197C>T" "" "benign" "" "0000289186" "0" "30" "11" "532729" "532729" "subst" "0.00153066" "01943" "HRAS_000003" "g.532729C>T" "" "" "" "HRAS(NM_005343.2):c.477G>A (p.L159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.532729C>T" "" "likely benign" "" "0000321833" "0" "30" "11" "532661" "532661" "subst" "0" "01804" "C11orf35_000001" "g.532661A>G" "" "" "" "HRAS(NM_001130442.1):c.545T>C (p.(Met182Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.532661A>G" "" "likely benign" "" "0000338377" "0" "10" "11" "534197" "534197" "subst" "0.0735132" "02327" "HRAS_000007" "g.534197C>T" "" "" "" "HRAS(NM_005343.2):c.111+15G>A, HRAS(NM_176795.5):c.111+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.534197C>T" "" "benign" "" "0000339093" "0" "90" "11" "534288" "534288" "subst" "0" "02327" "HRAS_000012" "g.534288C>T" "" "" "" "HRAS(NM_176795.3):c.35G>A (p.(Gly12Asp)), HRAS(NM_176795.5):c.35G>A (p.G12D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.534288C>T" "" "pathogenic" "" "0000340234" "0" "30" "11" "532729" "532729" "subst" "0.00153066" "02327" "HRAS_000003" "g.532729C>T" "" "" "" "HRAS(NM_005343.2):c.477G>A (p.L159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.532729C>T" "" "likely benign" "" "0000340235" "0" "30" "11" "533546" "533546" "subst" "0.00102754" "02327" "HRAS_000008" "g.533546G>A" "" "" "" "HRAS(NM_005343.2):c.357C>T (p.D119=), HRAS(NM_176795.5):c.357C>T (p.D119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.533546G>A" "" "likely benign" "" "0000341177" "0" "70" "11" "533467" "533467" "subst" "0" "02327" "HRAS_000016" "g.533467C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.533467C>G" "" "likely pathogenic" "" "0000345686" "0" "90" "11" "534289" "534289" "subst" "0" "02327" "HRAS_000013" "g.534289C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.534289C>A" "" "pathogenic" "" "0000345688" "0" "90" "11" "534289" "534289" "subst" "0" "02327" "HRAS_000002" "g.534289C>T" "" "" "" "HRAS(NM_005343.2):c.34G>A (p.G12S), HRAS(NM_176795.5):c.34G>A (p.G12S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.534289C>T" "" "pathogenic" "" "0000345717" "0" "90" "11" "534285" "534285" "subst" "0" "02327" "HRAS_000010" "g.534285C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.534285C>T" "" "pathogenic" "" "0000345718" "0" "90" "11" "534286" "534286" "subst" "0" "02327" "HRAS_000011" "g.534286C>A" "" "" "" "HRAS(NM_005343.2):c.37G>T (p.(Gly13Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.534286C>A" "" "pathogenic" "" "0000345762" "0" "30" "11" "534279" "534279" "subst" "0" "02327" "HRAS_000009" "g.534279C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.534279C>A" "" "likely benign" "" "0000351277" "0" "10" "11" "532310" "532310" "subst" "0" "02327" "HRAS_000014" "g.532310G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.532310G>A" "" "benign" "" "0000544554" "0" "30" "11" "533546" "533546" "subst" "0.00102754" "01943" "HRAS_000008" "g.533546G>A" "" "" "" "HRAS(NM_005343.2):c.357C>T (p.D119=), HRAS(NM_176795.5):c.357C>T (p.D119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.533546G>A" "" "likely benign" "" "0000544555" "0" "70" "11" "533874" "533874" "subst" "0" "02327" "C11orf35_000002" "g.533874T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.533874T>C" "" "likely pathogenic" "" "0000544556" "0" "90" "11" "534286" "534286" "subst" "0" "01804" "HRAS_000011" "g.534286C>A" "" "" "" "HRAS(NM_005343.2):c.37G>T (p.(Gly13Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.534286C>A" "" "pathogenic" "" "0000544557" "0" "90" "11" "534288" "534288" "subst" "0" "02327" "HRAS_000001" "g.534288C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.534288C>G" "" "pathogenic" "" "0000544558" "0" "90" "11" "534289" "534289" "subst" "0" "01943" "HRAS_000002" "g.534289C>T" "" "" "" "HRAS(NM_005343.2):c.34G>A (p.G12S), HRAS(NM_176795.5):c.34G>A (p.G12S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.534289C>T" "" "pathogenic" "" "0000544559" "0" "10" "11" "534332" "534332" "subst" "0.04401" "02325" "HRAS_000018" "g.534332G>A" "" "" "" "HRAS(NM_005343.2):c.-10C>T, HRAS(NM_176795.5):c.-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.534332G>A" "" "benign" "" "0000544561" "0" "30" "11" "539572" "539572" "subst" "0" "01804" "C11orf35_000004" "g.539572A>T" "" "" "" "LRRC56(NM_198075.3):c.-158-8A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.539572A>T" "" "likely benign" "" "0000544563" "0" "30" "11" "539578" "539578" "subst" "0" "01804" "C11orf35_000006" "g.539578A>T" "" "" "" "LRRC56(NM_198075.3):c.-158-2A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.539578A>T" "" "likely benign" "" "0000544564" "0" "30" "11" "539579" "539579" "subst" "0" "01804" "C11orf35_000007" "g.539579G>T" "" "" "" "LRRC56(NM_198075.3):c.-158-1G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.539579G>T" "" "likely benign" "" "0000613448" "0" "30" "11" "533335" "533340" "dup" "0" "02327" "C11orf35_000028" "g.533335_533340dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.533335_533340dup" "" "likely benign" "" "0000613449" "0" "50" "11" "533476" "533476" "subst" "8.12955E-6" "02327" "C11orf35_000029" "g.533476C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.533476C>T" "" "VUS" "" "0000613450" "0" "10" "11" "533546" "533546" "subst" "0.00102754" "02330" "HRAS_000008" "g.533546G>A" "" "" "" "HRAS(NM_005343.2):c.357C>T (p.D119=), HRAS(NM_176795.5):c.357C>T (p.D119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.533546G>A" "" "benign" "" "0000652987" "1" "90" "11" "534289" "534289" "subst" "0" "03575" "HRAS_000013" "g.534289C>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs104894229.1}" "Germline" "" "rs104894229" "0" "" "" "g.534289C>A" "" "pathogenic" "" "0000656815" "0" "30" "11" "533351" "533351" "subst" "0" "02327" "C11orf35_000031" "g.533351C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.533351C>T" "" "likely benign" "" "0000673853" "0" "90" "11" "534286" "534286" "subst" "0" "03695" "HRAS_000011" "g.534286C>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000679223" "0" "50" "11" "533314" "533314" "dup" "0" "01943" "C11orf35_000032" "g.533314dup" "" "" "" "HRAS(NM_176795.4):c.500dupC (p.P169Tfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679224" "0" "50" "11" "533838" "533838" "subst" "0" "02325" "C11orf35_000033" "g.533838C>T" "" "" "" "HRAS(NM_176795.5):c.218G>A (p.R73H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683371" "0" "70" "11" "534289" "534289" "subst" "0" "00006" "HRAS_000002" "g.534289C>T" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "rs104894229" "0" "" "" "g.534289C>T" "" "likely pathogenic (dominant)" "" "0000723489" "0" "90" "11" "534289" "534289" "subst" "0" "02329" "HRAS_000002" "g.534289C>T" "" "" "" "HRAS(NM_005343.2):c.34G>A (p.G12S), HRAS(NM_176795.5):c.34G>A (p.G12S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000786646" "0" "90" "11" "534285" "534285" "subst" "0" "00006" "HRAS_000010" "g.534285C>T" "" "{PMID:Lefebvre 2021:32732226}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.534285C>T" "" "pathogenic" "" "0000786647" "0" "90" "11" "534285" "534285" "subst" "0" "00006" "HRAS_000020" "g.534285C>A" "" "{PMID:Lefebvre 2021:32732226}" "" "38G>A (Gly13Val)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.534285C>A" "" "pathogenic" "" "0000811016" "0" "90" "11" "533885" "533893" "dup" "0" "04172" "HRAS_000021" "g.533885_533893dup" "" "2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.533885_533893dup" "" "likely pathogenic" "" "0000853030" "0" "50" "11" "533506" "533506" "subst" "1.21889E-5" "01943" "C11orf35_000040" "g.533506G>A" "" "" "" "HRAS(NM_176795.4):c.397C>T (p.L133F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862581" "0" "70" "11" "534285" "534285" "subst" "0" "01804" "HRAS_000020" "g.534285C>A" "" "" "" "HRAS(NM_005343.2):c.38G>T (p.(Gly13Val)), HRAS(NM_176795.5):c.38G>T (p.G13V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000868947" "0" "90" "11" "534286" "534286" "subst" "0" "04322" "HRAS_000011" "g.534286C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000869249" "0" "90" "11" "534288" "534288" "subst" "0" "03779" "HRAS_000012" "g.534288C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs104894230" "0" "" "" "" "" "pathogenic" "" "0000879768" "11" "70" "11" "534376" "534376" "subst" "0" "00006" "HRAS_000022" "g.534376C>T" "" "{PMID:Carlston 2019:30773818}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000881188" "0" "90" "11" "534289" "534289" "subst" "0" "02300" "HRAS_000002" "g.534289C>T" "" "{PMID:Marinakis 2021:34008892}" "" "NM_001130442.2:c.34G>A (Gly12Ser)" "ACMG PS1, PM1, PM2, PM5, PP2, PP3, PP5" "Germline/De novo (untested)" "" "rs104894229" "0" "" "" "g.534289C>T" "" "pathogenic (dominant)" "ACMG" "0000889980" "0" "30" "11" "533435" "533435" "subst" "0" "02326" "HRAS_000005" "g.533435G>A" "" "" "" "HRAS(NM_005343.2):c.450+18C>T, HRAS(NM_176795.4):c.450+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889981" "0" "30" "11" "533629" "533629" "subst" "4.062E-6" "02326" "C11orf35_000041" "g.533629G>A" "" "" "" "HRAS(NM_176795.4):c.291-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889982" "0" "70" "11" "533881" "533881" "subst" "0" "02327" "C11orf35_000042" "g.533881C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889983" "0" "90" "11" "534286" "534286" "subst" "0" "02327" "C11orf35_000043" "g.534286C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889984" "0" "90" "11" "534288" "534288" "subst" "0" "02329" "HRAS_000012" "g.534288C>T" "" "" "" "HRAS(NM_176795.3):c.35G>A (p.(Gly12Asp)), HRAS(NM_176795.5):c.35G>A (p.G12D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913623" "0" "50" "11" "532701" "532701" "subst" "2.86376E-5" "02325" "C11orf35_000044" "g.532701G>A" "" "" "" "HRAS(NM_005343.4):c.505C>T (p.R169W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913624" "0" "50" "11" "534210" "534210" "subst" "0" "02330" "C11orf35_000045" "g.534210A>G" "" "" "" "HRAS(NM_176795.5):c.111+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913625" "0" "90" "11" "534285" "534285" "subst" "0" "02329" "HRAS_000020" "g.534285C>A" "" "" "" "HRAS(NM_005343.2):c.38G>T (p.(Gly13Val)), HRAS(NM_176795.5):c.38G>T (p.G13V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925436" "0" "50" "11" "533833" "533833" "subst" "0" "02327" "C11orf35_000046" "g.533833C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927796" "0" "90" "11" "534285" "534285" "subst" "0" "03779" "HRAS_000010" "g.534285C>T" "" "" "" "" "" "Unknown" "" "rs104894226" "0" "" "" "" "" "pathogenic" "" "0000929917" "0" "30" "11" "533879" "533879" "subst" "0.000121904" "02325" "C11orf35_000047" "g.533879G>A" "" "" "" "HRAS(NM_005343.4):c.177C>T (p.A59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949718" "0" "50" "11" "532724" "532724" "subst" "2.05051E-5" "02325" "C11orf35_000048" "g.532724C>T" "" "" "" "HRAS(NM_005343.4):c.482G>A (p.R161H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999134" "0" "50" "11" "532662" "532662" "subst" "0" "01804" "C11orf35_000052" "g.532662T>C" "" "" "" "HRAS(NM_005343.2):c.544A>G (p.(Met182Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999135" "0" "70" "11" "533552" "533552" "subst" "0" "02327" "C11orf35_000053" "g.533552C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000999136" "0" "90" "11" "534288" "534288" "subst" "0" "01804" "HRAS_000012" "g.534288C>T" "" "" "" "HRAS(NM_176795.3):c.35G>A (p.(Gly12Asp)), HRAS(NM_176795.5):c.35G>A (p.G12D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000999137" "0" "30" "11" "534292" "534292" "subst" "8.14631E-6" "01804" "C11orf35_000054" "g.534292C>T" "" "" "" "HRAS(NM_005343.2):c.31G>A (p.(Ala11Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007536" "0" "70" "11" "533536" "533536" "subst" "2.84312E-5" "00006" "HRAS_000023" "g.533536G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs369106578" "0" "" "" "g.533536G>A" "" "VUS" "" "0001014845" "0" "90" "11" "534285" "534285" "subst" "0" "02327" "HRAS_000020" "g.534285C>A" "" "" "" "HRAS(NM_005343.2):c.38G>T (p.(Gly13Val)), HRAS(NM_176795.5):c.38G>T (p.G13V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026030" "0" "50" "11" "533535" "533535" "subst" "4.06164E-5" "02325" "C11orf35_000058" "g.533535C>G" "" "" "" "HRAS(NM_005343.4):c.368G>C (p.R123P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030320" "0" "50" "11" "532700" "532700" "subst" "0" "03779" "HRAS_000024" "g.532700C>A" "" "" "" "" "" "Unknown" "" "rs142218590" "0" "" "" "" "" "VUS" "" "0001038513" "0" "50" "11" "533485" "533485" "subst" "4.06349E-6" "01804" "C11orf35_000059" "g.533485G>A" "" "" "" "HRAS(NM_005343.4):c.418C>T (p.(Pro140Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038514" "0" "30" "11" "533619" "533619" "subst" "0" "01804" "C11orf35_000060" "g.533619G>A" "" "" "" "HRAS(NM_005343.4):c.291-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001048116" "0" "70" "11" "533882" "533883" "delins" "0" "03779" "HRAS_000025" "g.533882_533883delinsAA" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes HRAS ## Count = 76 "{{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}}" "0000130225" "00024203" "90" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "0000130235" "00024203" "90" "35" "0" "35" "0" "c.35G>C" "r.(?)" "p.(Gly12Ala)" "2" "0000246978" "00024203" "10" "81" "0" "81" "0" "c.81T>C" "r.(?)" "p.(His27=)" "" "0000253358" "00024203" "10" "81" "0" "81" "0" "c.81T>C" "r.(?)" "p.(His27=)" "" "0000256576" "00024203" "50" "374" "0" "374" "0" "c.374T>C" "r.(?)" "p.(Val125Ala)" "" "0000277777" "00024203" "10" "-10" "0" "-10" "0" "c.-10C>T" "r.(?)" "p.(=)" "" "0000277778" "00024203" "10" "111" "15" "111" "15" "c.111+15G>A" "r.(=)" "p.(=)" "" "0000277779" "00024203" "30" "450" "142" "450" "142" "c.450+142C>G" "r.(=)" "p.(=)" "" "0000283427" "00024203" "30" "450" "18" "450" "18" "c.450+18C>T" "r.(=)" "p.(=)" "" "0000289183" "00024203" "10" "-10" "0" "-10" "0" "c.-10C>T" "r.(?)" "p.(=)" "" "0000289184" "00024203" "10" "-53" "-35" "-53" "-24" "c.-53-35_-53-24del" "r.(=)" "p.(=)" "" "0000289185" "00024203" "10" "111" "15" "111" "15" "c.111+15G>A" "r.(=)" "p.(=)" "" "0000289186" "00024203" "30" "477" "0" "477" "0" "c.477G>A" "r.(?)" "p.(Leu159=)" "" "0000321833" "00024203" "30" "545" "0" "545" "0" "c.545T>C" "r.(?)" "p.(Met182Thr)" "" "0000338377" "00024203" "10" "111" "15" "111" "15" "c.111+15G>A" "r.(=)" "p.(=)" "" "0000339093" "00024203" "90" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Gly12Asp)" "" "0000340234" "00024203" "30" "477" "0" "477" "0" "c.477G>A" "r.(?)" "p.(Leu159=)" "" "0000340235" "00024203" "30" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Asp119=)" "" "0000341177" "00024203" "70" "436" "0" "436" "0" "c.436G>C" "r.(?)" "p.(Ala146Pro)" "" "0000345686" "00024203" "90" "34" "0" "34" "0" "c.34G>T" "r.(?)" "p.(Gly12Cys)" "" "0000345688" "00024203" "90" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "0000345717" "00024203" "90" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Gly13Asp)" "" "0000345718" "00024203" "90" "37" "0" "37" "0" "c.37G>T" "r.(?)" "p.(Gly13Cys)" "" "0000345762" "00024203" "30" "44" "0" "44" "0" "c.44G>T" "r.(?)" "p.(Gly15Val)" "" "0000351277" "00024203" "10" "788" "0" "788" "0" "c.*218C>T" "r.(=)" "p.(=)" "" "0000544554" "00024203" "30" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Asp119=)" "" "0000544555" "00024203" "70" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Gln61Arg)" "" "0000544556" "00024203" "90" "37" "0" "37" "0" "c.37G>T" "r.(?)" "p.(Gly13Cys)" "" "0000544557" "00024203" "90" "35" "0" "35" "0" "c.35G>C" "r.(?)" "p.(Gly12Ala)" "" "0000544558" "00024203" "90" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "0000544559" "00024203" "10" "-10" "0" "-10" "0" "c.-10C>T" "r.(?)" "p.(=)" "" "0000544561" "00024203" "30" "-4210" "0" "-4210" "0" "c.-4210T>A" "r.(?)" "p.(=)" "" "0000544563" "00024203" "30" "-4216" "0" "-4216" "0" "c.-4216T>A" "r.(?)" "p.(=)" "" "0000544564" "00024203" "30" "-4217" "0" "-4217" "0" "c.-4217C>A" "r.(?)" "p.(=)" "" "0000613448" "00024203" "30" "450" "119" "450" "124" "c.450+119_450+124dup" "r.(=)" "p.(=)" "" "0000613449" "00024203" "50" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Glu143Lys)" "" "0000613450" "00024203" "10" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Asp119=)" "" "0000652987" "00024203" "90" "34" "0" "34" "0" "c.34G>T" "r.(?)" "p.(Gly12Cys)" "" "0000656815" "00024203" "30" "450" "102" "450" "102" "c.450+102G>A" "r.(=)" "p.(=)" "" "0000673853" "00024203" "90" "37" "0" "37" "0" "c.37G>T" "r.(?)" "p.(Gly13Cys)" "" "0000679223" "00024203" "50" "450" "144" "450" "144" "c.450+144dup" "r.(=)" "p.(=)" "" "0000679224" "00024203" "50" "218" "0" "218" "0" "c.218G>A" "r.(?)" "p.(Arg73His)" "" "0000683371" "00024203" "70" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "0000723489" "00024203" "90" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "0000786646" "00024203" "90" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Gly13Asp)" "" "0000786647" "00024203" "90" "38" "0" "38" "0" "c.38G>T" "r.(?)" "p.(Gly13Val)" "" "0000811016" "00024203" "90" "164" "0" "172" "0" "c.164_172dup" "r.(?)" "p.(Ile55_Asp57dup)" "" "0000853030" "00024203" "50" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Leu133Phe)" "" "0000862581" "00024203" "70" "38" "0" "38" "0" "c.38G>T" "r.(?)" "p.(Gly13Val)" "" "0000868947" "00024203" "90" "37" "0" "37" "0" "c.37G>T" "r.(?)" "p.(Gly13Cys)" "" "0000869249" "00024203" "90" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Gly12Asp)" "" "0000879768" "00024203" "70" "-53" "-1" "-53" "-1" "c.-53-1G>A" "r.spl" "p.?" "" "0000881188" "00024203" "90" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "0000889980" "00024203" "30" "450" "18" "450" "18" "c.450+18C>T" "r.(=)" "p.(=)" "" "0000889981" "00024203" "30" "291" "-17" "291" "-17" "c.291-17C>T" "r.(=)" "p.(=)" "" "0000889982" "00024203" "70" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Ala59Thr)" "" "0000889983" "00024203" "90" "37" "0" "37" "0" "c.37G>C" "r.(?)" "p.(Gly13Arg)" "" "0000889984" "00024203" "90" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Gly12Asp)" "" "0000913623" "00024203" "50" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169Trp)" "" "0000913624" "00024203" "50" "111" "2" "111" "2" "c.111+2T>C" "r.spl?" "p.?" "" "0000913625" "00024203" "90" "38" "0" "38" "0" "c.38G>T" "r.(?)" "p.(Gly13Val)" "" "0000925436" "00024203" "50" "223" "0" "223" "0" "c.223G>C" "r.(?)" "p.(Gly75Arg)" "" "0000927796" "00024203" "90" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Gly13Asp)" "" "0000929917" "00024203" "30" "177" "0" "177" "0" "c.177C>T" "r.(?)" "p.(=)" "" "0000949718" "00024203" "50" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161His)" "" "0000999134" "00024203" "50" "544" "0" "544" "0" "c.544A>G" "r.(?)" "p.(Met182Val)" "" "0000999135" "00024203" "70" "351" "0" "351" "0" "c.351G>C" "r.(?)" "p.(Lys117Asn)" "" "0000999136" "00024203" "90" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Gly12Asp)" "" "0000999137" "00024203" "30" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Ala11Thr)" "" "0001007536" "00024203" "70" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Cys)" "" "0001014845" "00024203" "90" "38" "0" "38" "0" "c.38G>T" "r.(?)" "p.(Gly13Val)" "" "0001026030" "00024203" "50" "368" "0" "368" "0" "c.368G>C" "r.(?)" "p.(Arg123Pro)" "" "0001030320" "00024203" "50" "506" "0" "506" "0" "c.506G>T" "r.(?)" "p.(Arg169Leu)" "" "0001038513" "00024203" "50" "418" "0" "418" "0" "c.418C>T" "r.(?)" "p.(Pro140Ser)" "" "0001038514" "00024203" "30" "291" "-7" "291" "-7" "c.291-7C>T" "r.(=)" "p.(=)" "" "0001048116" "00024203" "70" "173" "0" "174" "0" "c.173_174delinsTT" "r.(?)" "p.(Thr58Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000081139" "0000130225" "0000081149" "0000130235" "0000296298" "0000652987" "0000307261" "0000673853" "0000308937" "0000683371" "0000375305" "0000786646" "0000375306" "0000786647" "0000384396" "0000811016" "0000411698" "0000868947" "0000419659" "0000879768" "0000420829" "0000881188" "0000455352" "0001007536"