### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NHP2) # 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}}" "NHP2" "NHP2 ribonucleoprotein" "5" "q35.3" "unknown" "NG_011765.1" "UD_132084517381" "" "http://www.LOVD.nl/NHP2" "The NHP2 (NOLA2) Telomerase Database " "1" "14377" "55651" "606470" "1" "1" "1" "1" "Alias NOLA2\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. As a start data were copied from the Telomerase Database TERC (TR) gene." "" "g" "http://databases.lovd.nl/shared/refseq/NHP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-06-25 14:54:56" "00000" "2024-10-29 21:08:56" ## 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}}" "00014552" "NHP2" "NHP2 ribonucleoprotein homolog (yeast), transcript variant 1" "002" "NM_017838.3" "" "NP_060308.1" "" "" "" "-143" "712" "462" "177580961" "177576464" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "03508" "DKCB2" "dyskeratosis congenita, autosomal recessive, type 2 (DKCB-2)" "AR" "613987" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NHP2" "03508" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00052952" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2008:18523010}, {DOI:Vulliamy 2008:10.1073/pnas.0800042105}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Turkey" "" "0" "" "" "" "" "00052953" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2008:18523010}, {DOI:Vulliamy 2008:10.1073/pnas.0800042105}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Turkey" ">12y" "0" "" "" "" "" "00334320" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334368" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334543" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335014" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00052952" "03508" "00052953" "03508" "00334320" "05793" "00334368" "05793" "00334543" "05793" "00335014" "05793" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03508, 05793 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000039677" "03508" "00052952" "00006" "Isolated (sporadic)" "" "nail dystrophy, thrombocytopenia, testicular atrophy, opportunistic infections, growth and mental retardation, liver cirrhosis, intracranial calcification" "" "" "" "" "" "" "" "" "" "0000039678" "03508" "00052953" "00006" "Isolated (sporadic)" "" "12y-dyskeratosis congenita, mucocutaneous triad of nail dystrophy, leucoplakia, reticulate skin pigmentation; developed peripheral pancytopenia because of progressive bone marrow failure; no other somatic abnormalities reported" "" "" "" "" "" "" "" "" "" "0000253130" "05793" "00334320" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "0000253163" "05793" "00334368" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "0000253233" "05793" "00334543" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "0000253296" "05793" "00335014" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000052900" "00052952" "1" "00006" "00006" "2015-10-26 19:52:37" "" "" "SEQ" "DNA" "" "" "0000052901" "00052953" "1" "00006" "00006" "2015-10-26 20:02:13" "" "" "SEQ" "DNA" "" "" "0000335548" "00334320" "1" "04011" "04011" "2021-02-27 14:12:36" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335596" "00334368" "1" "04011" "04011" "2021-02-28 08:40:49" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335772" "00334543" "1" "04011" "04011" "2021-03-01 13:55:37" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336243" "00335014" "1" "04011" "04011" "2021-03-03 02:07:39" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000052900" "NHP2" "0000052901" "NHP2" ## 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 = 31 "{{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}}" "0000082511" "3" "90" "5" "177576761" "177576761" "subst" "0" "00006" "NHP2_000001" "g.177576761A>G" "1/117 cases" "{PMID:Vulliamy 2008:18523010}, {DOI:Vulliamy 2008:10.1073/pnas.0800042105}, {OMIM606470:0001}" "" "" "short telomeres, low TERC levels" "Germline" "yes" "rs121908089" "0" "" "" "g.178149760A>G" "" "pathogenic" "" "0000082512" "21" "90" "5" "177576800" "177576800" "subst" "0" "00006" "NHP2_000002" "g.177576800C>T" "1/117 cases" "{PMID:Vulliamy 2008:18523010}, {DOI:Vulliamy 2008:10.1073/pnas.0800042105}, {OMIM606470:0002}" "" "" "short telomeres, low TERC levels" "Germline" "yes" "rs121908090" "0" "" "" "g.178149799C>T" "" "pathogenic" "" "0000082513" "11" "90" "5" "177576716" "177576716" "subst" "0" "00006" "NHP2_000003" "g.177576716A>T" "1/117 cases" "{PMID:Vulliamy 2008:18523010}, {DOI:Vulliamy 2008:10.1073/pnas.0800042105}, {OMIM606470:0003}" "" "p.X154ArgextX*52" "short telomeres, low TERC levels" "Germline" "yes" "rs121908091" "0" "" "" "g.178149715A>T" "" "pathogenic" "" "0000082514" "1" "10" "5" "177576824" "177576824" "subst" "0.00102193" "00006" "NHP2_000004" "g.177576824C>T" "1/117 controls" "{PMID:Vulliamy 2008:18523010}, {DOI:Vulliamy 2008:10.1073/pnas.0800042105}" "" "" "" "Germline" "" "" "0" "" "" "g.178149823C>T" "" "benign" "" "0000082515" "1" "10" "5" "177580641" "177580641" "subst" "0.00034207" "00006" "NHP2_000005" "g.177580641C>A" "3/117 cases" "{PMID:Vulliamy 2008:18523010}, {DOI:Vulliamy 2008:10.1073/pnas.0800042105}" "" "" "all heterozygotes" "Germline" "" "" "0" "" "" "g.178153640C>A" "" "benign" "" "0000082516" "1" "10" "5" "177580619" "177580635" "dup" "0" "00006" "NHP2_000006" "g.177580619_177580635dup" "1/117 cases" "{PMID:Vulliamy 2008:18523010}, {DOI:Vulliamy 2008:10.1073/pnas.0800042105}" "" "c.160+43_59dup" "" "Germline" "" "" "0" "" "" "g.178153618_178153634dup" "" "benign" "" "0000082517" "1" "10" "5" "177578029" "177578029" "subst" "0.000487734" "00006" "NHP2_000007" "g.177578029G>A" "1/117 cases" "{PMID:Vulliamy 2008:18523010}, {DOI:Vulliamy 2008:10.1073/pnas.0800042105}" "" "" "" "Germline" "" "" "0" "" "" "g.178151028G>A" "" "benign" "" "0000082518" "1" "10" "5" "177577873" "177577873" "del" "0" "00006" "NHP2_000008" "g.177577873del" "3/117 cases" "{PMID:Vulliamy 2008:18523010}, {DOI:Vulliamy 2008:10.1073/pnas.0800042105}" "" "" "all heterozygotes" "Germline" "" "" "0" "" "" "g.178150872del" "" "benign" "" "0000337371" "0" "30" "5" "177580643" "177580643" "subst" "0.0169863" "02327" "NHP2_000009" "g.177580643C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178153642C>G" "" "likely benign" "" "0000525340" "0" "50" "5" "177574635" "177574635" "subst" "0.000174646" "01804" "NHP2_000010" "g.177574635C>T" "" "" "" "RMND5B(NM_022762.3):c.962C>T (p.(Pro321Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178147634C>T" "" "VUS" "" "0000525341" "0" "30" "5" "177577923" "177577923" "subst" "0.00479555" "01804" "NHP2_000012" "g.177577923C>T" "" "" "" "NHP2(NM_017838.3):c.302G>A (p.(Arg101Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178150922C>T" "" "likely benign" "" "0000525342" "0" "30" "5" "177580648" "177580648" "subst" "0.00147858" "02326" "NHP2_000013" "g.177580648G>A" "" "" "" "NHP2(NM_017838.3):c.160+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178153647G>A" "" "likely benign" "" "0000525343" "0" "30" "5" "177580649" "177580649" "subst" "0.000464132" "02326" "NHP2_000014" "g.177580649T>A" "" "" "" "NHP2(NM_017838.3):c.160+10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178153648T>A" "" "likely benign" "" "0000525344" "0" "30" "5" "177580714" "177580714" "subst" "2.03968E-5" "01943" "NHP2_000015" "g.177580714C>T" "" "" "" "NHP2(NM_017838.3):c.105G>A (p.A35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178153713C>T" "" "likely benign" "" "0000609652" "0" "30" "5" "177580649" "177580649" "subst" "0.000464132" "01943" "NHP2_000014" "g.177580649T>A" "" "" "" "NHP2(NM_017838.3):c.160+10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178153648T>A" "" "likely benign" "" "0000689492" "0" "30" "5" "177576853" "177576853" "subst" "0.000424427" "02326" "NHP2_000016" "g.177576853A>G" "" "" "" "NHP2(NM_017838.3):c.337-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720367" "0" "50" "5" "177577962" "177577962" "subst" "0" "01943" "NHP2_000017" "g.177577962A>G" "" "" "" "NHP2(NM_017838.3):c.263T>C (p.I88T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000734054" "0" "70" "5" "177580749" "177580749" "subst" "0.000123107" "04011" "NHP2_000019" "g.177580749A>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734207" "0" "70" "5" "177577914" "177577914" "subst" "4.06062E-6" "04011" "NHP2_000018" "g.177577914G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734647" "0" "70" "5" "177580749" "177580749" "subst" "0.000123107" "04011" "NHP2_000019" "g.177580749A>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735426" "0" "70" "5" "177580749" "177580749" "subst" "0.000123107" "04011" "NHP2_000019" "g.177580749A>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000802048" "0" "30" "5" "177580722" "177580722" "subst" "4.0812E-6" "01943" "NHP2_000020" "g.177580722G>A" "" "" "" "NHP2(NM_017838.3):c.97C>T (p.P33S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850881" "0" "10" "5" "177576825" "177576825" "subst" "0.00235233" "02326" "NHP2_000021" "g.177576825G>A" "" "" "" "NHP2(NM_017838.3):c.351C>T (p.A117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859893" "0" "30" "5" "177577873" "177577873" "del" "0" "02326" "NHP2_000008" "g.177577873del" "" "" "" "NHP2(NM_017838.3):c.336+20delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859894" "0" "30" "5" "177580747" "177580747" "subst" "0.000123023" "01943" "NHP2_000022" "g.177580747G>A" "" "" "" "NHP2(NM_017838.3):c.72C>T (p.Y24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886779" "0" "30" "5" "177578012" "177578013" "del" "0" "02326" "NHP2_000023" "g.177578012_177578013del" "" "" "" "NHP2(NM_017838.3):c.231-17_231-16delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924319" "0" "30" "5" "177580714" "177580714" "subst" "2.03968E-5" "02326" "NHP2_000015" "g.177580714C>T" "" "" "" "NHP2(NM_017838.3):c.105G>A (p.A35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948536" "0" "30" "5" "177576759" "177576759" "subst" "2.03191E-5" "02326" "NHP2_000024" "g.177576759G>A" "" "" "" "NHP2(NM_017838.3):c.417C>T (p.Y139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994951" "0" "50" "5" "177580532" "177580532" "subst" "0.000381704" "01804" "NHP2_000025" "g.177580532C>T" "" "" "" "NHP2(NM_017838.3):c.190G>A (p.(Val64Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994952" "0" "30" "5" "177580794" "177580794" "subst" "8.43704E-6" "01804" "NHP2_000026" "g.177580794C>T" "" "" "" "NHP2(NM_017838.3):c.25G>A (p.(Asp9Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014116" "0" "70" "5" "177577901" "177577901" "del" "0" "02326" "NHP2_000027" "g.177577901del" "" "" "" "NHP2(NM_017838.3):c.327delC (p.S110Lfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 NHP2 ## Count = 31 "{{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}}" "0000082511" "00014552" "90" "415" "0" "415" "0" "c.415T>C" "r.(?)" "p.(Tyr139His)" "4" "0000082512" "00014552" "90" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Val126Met)" "4" "0000082513" "00014552" "90" "460" "0" "460" "0" "c.460T>A" "r.(?)" "p.(*154Argext*51)" "4" "0000082514" "00014552" "10" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "4" "0000082515" "00014552" "10" "160" "18" "160" "18" "c.160+18G>T" "r.(?)" "p.(=)" "1i" "0000082516" "00014552" "10" "160" "43" "161" "-39" "c.160+43_161-39dup" "r.(?)" "p.(=)" "1i" "0000082517" "00014552" "10" "231" "-35" "231" "-35" "c.231-35C>T" "r.(?)" "p.(=)" "2i" "0000082518" "00014552" "10" "336" "20" "336" "20" "c.336+20del" "r.(=)" "p.(=)" "3i" "0000337371" "00014552" "30" "160" "16" "160" "16" "c.160+16G>C" "r.(=)" "p.(=)" "" "0000525340" "00014552" "50" "2541" "0" "2541" "0" "c.*2079G>A" "r.(=)" "p.(=)" "" "0000525341" "00014552" "30" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101Gln)" "" "0000525342" "00014552" "30" "160" "11" "160" "11" "c.160+11C>T" "r.(=)" "p.(=)" "" "0000525343" "00014552" "30" "160" "10" "160" "10" "c.160+10A>T" "r.(=)" "p.(=)" "" "0000525344" "00014552" "30" "105" "0" "105" "0" "c.105G>A" "r.(?)" "p.(Ala35=)" "" "0000609652" "00014552" "30" "160" "10" "160" "10" "c.160+10A>T" "r.(=)" "p.(=)" "" "0000689492" "00014552" "30" "337" "-14" "337" "-14" "c.337-14T>C" "r.(=)" "p.(=)" "" "0000720367" "00014552" "50" "263" "0" "263" "0" "c.263T>C" "r.(?)" "p.(Ile88Thr)" "" "0000734054" "00014552" "50" "70" "0" "70" "0" "c.70T>A" "r.(?)" "p.(Tyr24Asn)" "" "0000734207" "00014552" "50" "311" "0" "311" "0" "c.311C>T" "r.(?)" "p.(Pro104Leu)" "" "0000734647" "00014552" "50" "70" "0" "70" "0" "c.70T>A" "r.(?)" "p.(Tyr24Asn)" "" "0000735426" "00014552" "50" "70" "0" "70" "0" "c.70T>A" "r.(?)" "p.(Tyr24Asn)" "" "0000802048" "00014552" "30" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Pro33Ser)" "" "0000850881" "00014552" "10" "351" "0" "351" "0" "c.351C>T" "r.(?)" "p.(Ala117=)" "" "0000859893" "00014552" "30" "336" "20" "336" "20" "c.336+20del" "r.(=)" "p.(=)" "" "0000859894" "00014552" "30" "72" "0" "72" "0" "c.72C>T" "r.(?)" "p.(Tyr24=)" "" "0000886779" "00014552" "30" "231" "-17" "231" "-16" "c.231-17_231-16del" "r.(=)" "p.(=)" "" "0000924319" "00014552" "30" "105" "0" "105" "0" "c.105G>A" "r.(?)" "p.(Ala35=)" "" "0000948536" "00014552" "30" "417" "0" "417" "0" "c.417C>T" "r.(?)" "p.(=)" "" "0000994951" "00014552" "50" "190" "0" "190" "0" "c.190G>A" "r.(?)" "p.(Val64Met)" "" "0000994952" "00014552" "30" "25" "0" "25" "0" "c.25G>A" "r.(?)" "p.(Asp9Asn)" "" "0001014116" "00014552" "70" "327" "0" "327" "0" "c.327del" "r.(?)" "p.(Ser110Leufs*17)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000052900" "0000082511" "0000052901" "0000082512" "0000052901" "0000082513" "0000335548" "0000734054" "0000335596" "0000734207" "0000335772" "0000734647" "0000336243" "0000735426"