### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TEN1) # 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}}" "TEN1" "TEN1 telomerase capping complex subunit homolog (S. cerevisiae)" "17" "q25.1" "unknown" "NC_000017.10" "UD_136094360432" "" "http://www.LOVD.nl/TEN1" "" "1" "37242" "100134934" "613130" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-22 14:59:50" "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}}" "00020971" "TEN1" "TEN1 telomerase capping complex subunit homolog (S. cerevisiae)" "001" "NM_001113324.2" "" "NP_001106795.2" "" "" "" "-301" "696" "372" "73975298" "73996667" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00115" "CRMCC" "microangiopathy, cerebroretinal, with calcifications and cysts (CRMCC, Coats plus syndrome)" "AR" "612199" "" "" "" "00001" "2013-03-08 10:55:44" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TEN1" "00115" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00115 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 46 "{{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}}" "0000258901" "0" "10" "17" "73949540" "73949540" "subst" "0.653791" "02325" "ACOX1_000003" "g.73949540G>C" "" "" "" "ACOX1(NM_001185039.2):c.822C>G (p.I274M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75953459G>C" "" "benign" "" "0000261787" "0" "50" "17" "73969706" "73969706" "subst" "3.24857E-5" "01943" "ACOX1_000004" "g.73969706C>T" "" "" "" "ACOX1(NM_007292.5):c.430G>A (p.G144R, p.(Gly144Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75973625C>T" "" "VUS" "" "0000261788" "0" "10" "17" "73975075" "73975075" "subst" "0.00315606" "01943" "ACOX1_000006" "g.73975075G>A" "" "" "" "ACOX1(NM_004035.6):c.80C>T (p.P27L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75978994G>A" "" "benign" "" "0000325626" "0" "30" "17" "73945294" "73945294" "subst" "4.062E-6" "01804" "ACOX1_000001" "g.73945294T>C" "" "" "" "ACOX1(NM_001185039.1):c.1614+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75949213T>C" "" "likely benign" "" "0000325628" "0" "50" "17" "73969777" "73969777" "subst" "4.06058E-6" "01804" "ACOX1_000005" "g.73969777T>C" "" "" "" "ACOX1(NM_001185039.1):c.155+4838A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75973696T>C" "" "VUS" "" "0000325629" "0" "50" "17" "73996233" "73996233" "subst" "0.000695298" "01804" "TEN1_000001" "g.73996233G>A" "" "" "" "TEN1(NM_001113324.2):c.262G>A (p.(Val88Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76000152G>A" "" "VUS" "" "0000325632" "0" "50" "17" "74003216" "74003216" "subst" "0.000564693" "01804" "EVPL_000001" "g.74003216C>T" "" "" "" "EVPL(NM_001988.2):c.6070G>A (p.(Ala2024Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76007135C>T" "" "VUS" "" "0000325633" "0" "50" "17" "74003525" "74003525" "subst" "0.000255232" "01804" "EVPL_000002" "g.74003525C>T" "" "" "" "EVPL(NM_001988.2):c.5761G>A (p.(Val1921Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76007444C>T" "" "VUS" "" "0000325634" "0" "50" "17" "74004307" "74004307" "subst" "0.000536852" "01804" "EVPL_000003" "g.74004307C>T" "" "" "" "EVPL(NM_001988.2):c.4979G>A (p.(Arg1660Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76008226C>T" "" "VUS" "" "0000325636" "0" "50" "17" "74004600" "74004600" "subst" "0.000570854" "01804" "EVPL_000004" "g.74004600C>A" "" "" "" "EVPL(NM_001988.2):c.4686G>T (p.(Glu1562Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76008519C>A" "" "VUS" "" "0000325638" "0" "50" "17" "74004928" "74004928" "subst" "0.000576861" "01804" "EVPL_000005" "g.74004928G>A" "" "" "" "EVPL(NM_001988.2):c.4358C>T (p.(Pro1453Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76008847G>A" "" "VUS" "" "0000325640" "0" "50" "17" "74005742" "74005742" "subst" "0.000170865" "01804" "EVPL_000006" "g.74005742C>T" "" "" "" "EVPL(NM_001320747.1):c.3610G>A (p.V1204M), EVPL(NM_001988.2):c.3544G>A (p.(Val1182Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76009661C>T" "" "VUS" "" "0000343145" "0" "10" "17" "73944496" "73944496" "subst" "0.00358222" "02327" "ACOX1_000007" "g.73944496G>A" "" "" "" "ACOX1(NM_004035.6):c.1771C>T (p.(Arg591Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75948415G>A" "" "benign" "" "0000563127" "0" "10" "17" "73944473" "73944473" "subst" "0.00152694" "01943" "ACOX1_000008" "g.73944473C>A" "" "" "" "ACOX1(NM_001185039.1):c.1680G>T (p.L560=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75948392C>A" "" "benign" "" "0000563128" "0" "30" "17" "73944496" "73944496" "subst" "0.00358222" "01804" "ACOX1_000007" "g.73944496G>A" "" "" "" "ACOX1(NM_004035.6):c.1771C>T (p.(Arg591Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75948415G>A" "" "likely benign" "" "0000563129" "0" "50" "17" "73945294" "73945294" "subst" "4.062E-6" "01943" "ACOX1_000001" "g.73945294T>C" "" "" "" "ACOX1(NM_001185039.1):c.1614+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75949213T>C" "" "VUS" "" "0000563131" "0" "10" "17" "73945975" "73945975" "subst" "0.000792644" "01943" "ACOX1_000010" "g.73945975G>A" "" "" "" "ACOX1(NM_001185039.1):c.1188C>T (p.F396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75949894G>A" "" "benign" "" "0000563132" "0" "10" "17" "73947649" "73947649" "subst" "0.000833299" "01943" "ACOX1_000011" "g.73947649T>C" "" "" "" "ACOX1(NM_001185039.1):c.840A>G (p.E280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75951568T>C" "" "benign" "" "0000563133" "0" "30" "17" "73949526" "73949526" "subst" "0" "01943" "ACOX1_000012" "g.73949526C>G" "" "" "" "ACOX1(NM_001185039.1):c.830+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75953445C>G" "" "likely benign" "" "0000563134" "0" "50" "17" "74006507" "74006507" "subst" "0.000223515" "01943" "EVPL_000014" "g.74006507G>A" "" "" "" "EVPL(NM_001320747.1):c.2845C>T (p.R949W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76010426G>A" "" "VUS" "" "0000623768" "0" "30" "17" "73956445" "73956445" "subst" "2.4422E-5" "01943" "ACOX1_000014" "g.73956445C>T" "" "" "" "ACOX1(NM_001185039.1):c.167G>A (p.R56Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75960364C>T" "" "likely benign" "" "0000681027" "0" "30" "17" "73974748" "73974748" "subst" "0" "01804" "ACOX1_000015" "g.73974748A>T" "" "" "" "ACOX1(NM_001185039.1):c.22T>A (p.(Phe8Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75978667A>T" "" "likely benign" "" "0000681028" "0" "30" "17" "74005742" "74005742" "subst" "0.000170865" "01943" "EVPL_000006" "g.74005742C>T" "" "" "" "EVPL(NM_001320747.1):c.3610G>A (p.V1204M), EVPL(NM_001988.2):c.3544G>A (p.(Val1182Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808261" "0" "30" "17" "73951699" "73951699" "subst" "0.000198972" "01943" "ACOX1_000016" "g.73951699T>C" "" "" "" "ACOX1(NM_001185039.1):c.608A>G (p.K203R), ACOX1(NM_004035.6):c.722A>G (p.(Lys241Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75955618T>C" "" "likely benign" "" "0000808262" "0" "30" "17" "74003273" "74003273" "subst" "8.87543E-5" "01943" "EVPL_000015" "g.74003273G>A" "" "" "" "EVPL(NM_001320747.1):c.6079C>T (p.L2027=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808263" "0" "50" "17" "74004428" "74004428" "subst" "8.95568E-5" "01943" "EVPL_000016" "g.74004428G>A" "" "" "" "EVPL(NM_001320747.1):c.4924C>T (p.L1642F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855107" "0" "30" "17" "73945909" "73945909" "subst" "0.00169789" "01943" "ACOX1_000020" "g.73945909G>A" "" "" "" "ACOX1(NM_001185039.1):c.1254C>T (p.N418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75949828G>A" "" "likely benign" "" "0000855108" "0" "30" "17" "73956387" "73956387" "subst" "5.68759E-5" "01943" "ACOX1_000022" "g.73956387G>A" "" "" "" "ACOX1(NM_001185039.1):c.225C>T (p.H75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75960306G>A" "" "likely benign" "" "0000865500" "0" "50" "17" "73944442" "73944442" "subst" "0" "02325" "ACOX1_000019" "g.73944442C>A" "" "" "" "ACOX1(NM_004035.7):c.1825G>T (p.A609S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75948361C>A" "" "VUS" "" "0000865501" "0" "50" "17" "73949532" "73949532" "subst" "0" "01943" "ACOX1_000021" "g.73949532C>T" "" "" "" "ACOX1(NM_001185039.1):c.830G>A (p.G277D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75953451C>T" "" "VUS" "" "0000894287" "0" "50" "17" "73953581" "73953581" "subst" "0.000324855" "02325" "ACOX1_000023" "g.73953581T>C" "" "" "" "ACOX1(NM_004035.7):c.497A>G (p.N166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75957500T>C" "" "VUS" "" "0000926641" "0" "50" "17" "73949688" "73949688" "subst" "8.93394E-5" "02325" "ACOX1_000024" "g.73949688C>G" "" "" "" "ACOX1(NM_004035.7):c.788G>C (p.G263A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75953607C>G" "" "VUS" "" "0000969233" "0" "50" "17" "73945620" "73945620" "subst" "0" "02325" "ACOX1_000025" "g.73945620C>T" "" "" "" "ACOX1(NM_004035.7):c.1540G>A (p.V514I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75949539C>T" "" "VUS" "" "0001003672" "0" "30" "17" "73945315" "73945315" "subst" "1.62448E-5" "01804" "ACOX1_000026" "g.73945315C>A" "" "" "" "ACOX1(NM_004035.6):c.1711G>T (p.(Ala571Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75949234C>A" "" "likely benign" "" "0001003673" "0" "50" "17" "73945628" "73945628" "subst" "0" "01804" "ACOX1_000027" "g.73945628C>T" "" "" "" "ACOX1(NM_004035.6):c.1532G>A (p.(Ser511Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75949547C>T" "" "VUS" "" "0001003674" "0" "50" "17" "73946885" "73946885" "subst" "0" "01804" "ACOX1_000028" "g.73946885T>C" "" "" "" "ACOX1(NM_004035.6):c.1268A>G (p.(Glu423Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75950804T>C" "" "VUS" "" "0001003675" "0" "50" "17" "73946976" "73946976" "subst" "1.2186E-5" "01804" "ACOX1_000029" "g.73946976G>A" "" "" "" "ACOX1(NM_004035.6):c.1177C>T (p.(Arg393Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75950895G>A" "" "VUS" "" "0001003676" "0" "50" "17" "73951684" "73951684" "subst" "8.12143E-6" "01804" "ACOX1_000013" "g.73951684C>T" "" "" "" "ACOX1(NM_004035.6):c.737G>A (p.(Arg246His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75955603C>T" "" "VUS" "" "0001003677" "0" "50" "17" "73951699" "73951699" "subst" "0.000198972" "01804" "ACOX1_000016" "g.73951699T>C" "" "" "" "ACOX1(NM_001185039.1):c.608A>G (p.K203R), ACOX1(NM_004035.6):c.722A>G (p.(Lys241Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75955618T>C" "" "VUS" "" "0001003678" "0" "50" "17" "73969706" "73969706" "subst" "3.24857E-5" "01804" "ACOX1_000004" "g.73969706C>T" "" "" "" "ACOX1(NM_007292.5):c.430G>A (p.G144R, p.(Gly144Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75973625C>T" "" "VUS" "" "0001003681" "0" "50" "17" "74005973" "74005973" "subst" "0.000199142" "01804" "EVPL_000017" "g.74005973G>A" "" "" "" "EVPL(NM_001988.2):c.3313C>T (p.(Arg1105Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015615" "0" "50" "17" "73951993" "73951993" "subst" "0.000288358" "02325" "ACOX1_000017" "g.73951993G>T" "" "" "" "ACOX1(NM_004035.7):c.574C>A (p.Q192K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75955912G>T" "" "VUS" "" "0001015616" "0" "50" "17" "73975121" "73975121" "subst" "0" "02325" "ACOX1_000018" "g.73975121C>G" "" "" "" "ACOX1(NM_004035.7):c.34G>C (p.A12P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75979040C>G" "" "VUS" "" "0001042184" "0" "50" "17" "73953620" "73953620" "subst" "0.000393902" "01804" "TEN1_000002" "g.73953620G>A" "" "" "" "ACOX1(NM_004035.7):c.458C>T (p.(Thr153Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042185" "0" "30" "17" "73987676" "73987676" "subst" "0.000881567" "01804" "CDK3_000003" "g.73987676C>A" "" "" "" "TEN1(NM_001113324.3):c.222C>A (p.(Ile74=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056191" "0" "50" "17" "74005118" "74005118" "subst" "1.6351E-5" "01804" "CDK3_000004" "g.74005118G>A" "" "" "" "EVPL(NM_001988.4):c.4168C>T (p.(Arg1390Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TEN1 ## Count = 46 "{{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}}" "0000258901" "00020971" "10" "-26059" "0" "-26059" "0" "c.-26059G>C" "r.(?)" "p.(=)" "" "0000261787" "00020971" "50" "-5893" "0" "-5893" "0" "c.-5893C>T" "r.(?)" "p.(=)" "" "0000261788" "00020971" "10" "-524" "0" "-524" "0" "c.-524G>A" "r.(?)" "p.(=)" "" "0000325626" "00020971" "30" "-30305" "0" "-30305" "0" "c.-30305T>C" "r.(?)" "p.(=)" "" "0000325628" "00020971" "50" "-5822" "0" "-5822" "0" "c.-5822T>C" "r.(?)" "p.(=)" "" "0000325629" "00020971" "50" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Val88Met)" "" "0000325632" "00020971" "50" "7245" "0" "7245" "0" "c.*6873C>T" "r.(=)" "p.(=)" "" "0000325633" "00020971" "50" "7554" "0" "7554" "0" "c.*7182C>T" "r.(=)" "p.(=)" "" "0000325634" "00020971" "50" "8336" "0" "8336" "0" "c.*7964C>T" "r.(=)" "p.(=)" "" "0000325636" "00020971" "50" "8629" "0" "8629" "0" "c.*8257C>A" "r.(=)" "p.(=)" "" "0000325638" "00020971" "50" "8957" "0" "8957" "0" "c.*8585G>A" "r.(=)" "p.(=)" "" "0000325640" "00020971" "50" "9771" "0" "9771" "0" "c.*9399C>T" "r.(=)" "p.(=)" "" "0000343145" "00020971" "10" "-31103" "0" "-31103" "0" "c.-31103G>A" "r.(?)" "p.(=)" "" "0000563127" "00020971" "10" "-31126" "0" "-31126" "0" "c.-31126C>A" "r.(?)" "p.(=)" "" "0000563128" "00020971" "30" "-31103" "0" "-31103" "0" "c.-31103G>A" "r.(?)" "p.(=)" "" "0000563129" "00020971" "50" "-30305" "0" "-30305" "0" "c.-30305T>C" "r.(?)" "p.(=)" "" "0000563131" "00020971" "10" "-29624" "0" "-29624" "0" "c.-29624G>A" "r.(?)" "p.(=)" "" "0000563132" "00020971" "10" "-27950" "0" "-27950" "0" "c.-27950T>C" "r.(?)" "p.(=)" "" "0000563133" "00020971" "30" "-26073" "0" "-26073" "0" "c.-26073C>G" "r.(?)" "p.(=)" "" "0000563134" "00020971" "50" "10536" "0" "10536" "0" "c.*10164G>A" "r.(=)" "p.(=)" "" "0000623768" "00020971" "30" "-19154" "0" "-19154" "0" "c.-19154C>T" "r.(?)" "p.(=)" "" "0000681027" "00020971" "30" "-851" "0" "-851" "0" "c.-851A>T" "r.(?)" "p.(=)" "" "0000681028" "00020971" "30" "9771" "0" "9771" "0" "c.*9399C>T" "r.(=)" "p.(=)" "" "0000808261" "00020971" "30" "-23900" "0" "-23900" "0" "c.-23900T>C" "r.(?)" "p.(=)" "" "0000808262" "00020971" "30" "7302" "0" "7302" "0" "c.*6930G>A" "r.(=)" "p.(=)" "" "0000808263" "00020971" "50" "8457" "0" "8457" "0" "c.*8085G>A" "r.(=)" "p.(=)" "" "0000855107" "00020971" "30" "-29690" "0" "-29690" "0" "c.-29690G>A" "r.(?)" "p.(=)" "" "0000855108" "00020971" "30" "-19212" "0" "-19212" "0" "c.-19212G>A" "r.(?)" "p.(=)" "" "0000865500" "00020971" "50" "-31157" "0" "-31157" "0" "c.-31157C>A" "r.(?)" "p.(=)" "" "0000865501" "00020971" "50" "-26067" "0" "-26067" "0" "c.-26067C>T" "r.(?)" "p.(=)" "" "0000894287" "00020971" "50" "-22018" "0" "-22018" "0" "c.-22018T>C" "r.(?)" "p.(=)" "" "0000926641" "00020971" "50" "-25911" "0" "-25911" "0" "c.-25911C>G" "r.(?)" "p.(=)" "" "0000969233" "00020971" "50" "-29979" "0" "-29979" "0" "c.-29979C>T" "r.(?)" "p.(=)" "" "0001003672" "00020971" "30" "-30284" "0" "-30284" "0" "c.-30284C>A" "r.(?)" "p.(=)" "" "0001003673" "00020971" "50" "-29971" "0" "-29971" "0" "c.-29971C>T" "r.(?)" "p.(=)" "" "0001003674" "00020971" "50" "-28714" "0" "-28714" "0" "c.-28714T>C" "r.(?)" "p.(=)" "" "0001003675" "00020971" "50" "-28623" "0" "-28623" "0" "c.-28623G>A" "r.(?)" "p.(=)" "" "0001003676" "00020971" "50" "-23915" "0" "-23915" "0" "c.-23915C>T" "r.(?)" "p.(=)" "" "0001003677" "00020971" "50" "-23900" "0" "-23900" "0" "c.-23900T>C" "r.(?)" "p.(=)" "" "0001003678" "00020971" "50" "-5893" "0" "-5893" "0" "c.-5893C>T" "r.(?)" "p.(=)" "" "0001003681" "00020971" "50" "10002" "0" "10002" "0" "c.*9630G>A" "r.(=)" "p.(=)" "" "0001015615" "00020971" "50" "-23606" "0" "-23606" "0" "c.-23606G>T" "r.(?)" "p.(=)" "" "0001015616" "00020971" "50" "-478" "0" "-478" "0" "c.-478C>G" "r.(?)" "p.(=)" "" "0001042184" "00020971" "50" "-21979" "0" "-21979" "0" "c.-21979G>A" "r.(?)" "p.(=)" "" "0001042185" "00020971" "30" "222" "0" "222" "0" "c.222C>A" "r.(?)" "p.(=)" "" "0001056191" "00020971" "50" "9147" "0" "9147" "0" "c.*8775G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0