### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TOX) # 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}}" "TOX" "thymocyte selection-associated high mobility group box" "8" "q12.2-q12.3" "unknown" "NG_011993.1" "UD_132118662905" "" "https://www.LOVD.nl/TOX" "Globin Gene Server databases \r\nHbVar " "1" "18988" "9760" "606863" "1" "1" "1" "1" "This gene is part of the Globin Gene Server databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/TOX_codingDNA.html" "1" "" "This gene is part of the Globin Gene Server databases." "-1" "" "-1" "00001" "2009-02-18 00:00:00" "00006" "2019-11-01 10:34:25" "00000" "2020-06-23 20:07:59" ## 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}}" "00021652" "TOX" "thymocyte selection-associated high mobility group box" "001" "NM_014729.2" "" "NP_055544.1" "" "" "" "-221" "3910" "1581" "60031767" "59717977" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00267073" "" "" "" "1" "" "03464" "{PMID:Patrinos and Grosveld 2008:18275000}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267074" "" "" "" "1" "" "03464" "{PMID:Patrinos and Grosveld 2008:18275000}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267075" "" "" "" "1" "" "03464" "{PMID:Patrinos and Grosveld 2008:18275000}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267076" "" "" "" "1" "" "03464" "{PMID:Patrinos and Grosveld 2008:18275000}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267077" "" "" "" "1" "" "03464" "{PMID:Patrinos and Grosveld 2008:18275000}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267078" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267079" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267080" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267081" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267082" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267083" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267084" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267085" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267086" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267087" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267088" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267089" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267090" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267091" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267092" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267093" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00267073" "00198" "00267074" "00198" "00267075" "00198" "00267076" "00198" "00267077" "00198" "00267078" "00198" "00267079" "00198" "00267080" "00198" "00267081" "00198" "00267082" "00198" "00267083" "00198" "00267084" "00198" "00267085" "00198" "00267086" "00198" "00267087" "00198" "00267088" "00198" "00267089" "00198" "00267090" "00198" "00267091" "00198" "00267092" "00198" "00267093" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000268202" "00267073" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268203" "00267074" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268204" "00267075" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268205" "00267076" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268206" "00267077" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268207" "00267078" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268208" "00267079" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268209" "00267080" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268210" "00267081" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268211" "00267082" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268212" "00267083" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268213" "00267084" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268214" "00267085" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268215" "00267086" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268216" "00267087" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268217" "00267088" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268218" "00267089" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268219" "00267090" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268220" "00267091" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268221" "00267092" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "?" "DNA" "" "" "0000268222" "00267093" "1" "03464" "00006" "2019-11-01 12:15:03" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000268202" "TOX" "0000268203" "TOX" "0000268204" "TOX" "0000268205" "TOX" "0000268206" "TOX" "0000268207" "TOX" "0000268208" "TOX" "0000268209" "TOX" "0000268210" "TOX" "0000268211" "TOX" "0000268212" "TOX" "0000268213" "TOX" "0000268214" "TOX" "0000268215" "TOX" "0000268216" "TOX" "0000268217" "TOX" "0000268218" "TOX" "0000268219" "TOX" "0000268220" "TOX" "0000268221" "TOX" "0000268222" "TOX" ## 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 = 24 "{{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}}" "0000332133" "0" "50" "8" "59728153" "59728153" "subst" "0.00054883" "01804" "TOX_000022" "g.59728153G>A" "" "" "" "TOX(NM_014729.2):c.1136C>T (p.(Pro379Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58815594G>A" "" "VUS" "" "0000332134" "0" "50" "8" "60031540" "60031540" "subst" "4.24747E-6" "01804" "TOX_000023" "g.60031540C>G" "" "" "" "TOX(NM_014729.2):c.7G>C (p.(Val3Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59118981C>G" "" "VUS" "" "0000600879" "0" "50" "8" "58878344" "58878344" "subst" "0" "03464" "TOX_000001" "g.58878344T>C" "" "{PMID:Patrinos and Grosveld 2008:18275000}" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs765587" "0" "" "" "g.58878344T>C" "" "VUS" "" "0000600880" "0" "50" "8" "59848830" "59848830" "subst" "0" "03464" "TOX_000002" "g.59848830G>A" "" "{PMID:Patrinos and Grosveld 2008:18275000}" "" "" "" "Germline" "" "rs12155519" "0" "" "" "g.58936271G>A" "" "VUS" "" "0000600881" "0" "50" "8" "59947423" "59947423" "subst" "0" "03464" "TOX_000003" "g.59947423C>T" "" "{PMID:Patrinos and Grosveld 2008:18275000}" "" "" "" "Germline" "" "rs9693712" "0" "" "" "g.59034864C>T" "" "VUS" "" "0000600882" "0" "50" "8" "59738913" "59738913" "subst" "0" "03464" "TOX_000004" "g.59738913G>A" "" "{PMID:Patrinos and Grosveld 2008:18275000}" "" "" "" "Germline" "" "rs826729" "0" "" "" "g.58826354G>A" "" "VUS" "" "0000600883" "0" "50" "8" "59045582" "59045582" "subst" "0" "03464" "TOX_000005" "g.59045582A>G" "" "{PMID:Patrinos and Grosveld 2008:18275000}" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs172652" "0" "" "" "g.59045582A>G" "" "VUS" "" "0000600884" "0" "50" "8" "58930111" "58930111" "subst" "0" "03464" "TOX_000006" "g.58930111A>C" "" "{PMID:Sebastiani 2008:17918249}" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs10504269" "0" "" "" "g.58930111A>C" "" "VUS" "" "0000600885" "0" "50" "8" "58933552" "58933552" "subst" "0" "03464" "TOX_000007" "g.58933552T>G" "" "{PMID:Sebastiani 2008:17918249}" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs6997859" "0" "" "" "g.58933552T>G" "" "VUS" "" "0000600886" "0" "50" "8" "59872177" "59872177" "subst" "0" "03464" "TOX_000008" "g.59872177A>G" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs1947178" "0" "" "" "g.58959618A>G" "" "VUS" "" "0000600887" "0" "50" "8" "59937116" "59937116" "subst" "0" "03464" "TOX_000009" "g.59937116T>G" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs389349" "0" "" "" "g.59024557T>G" "" "VUS" "" "0000600888" "0" "50" "8" "59937643" "59937643" "subst" "0" "03464" "TOX_000010" "g.59937643G>A" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs4737532" "0" "" "" "g.59025084G>A" "" "VUS" "" "0000600889" "0" "50" "8" "59939182" "59939182" "subst" "0" "03464" "TOX_000011" "g.59939182A>C" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs851800" "0" "" "" "g.59026623A>C" "" "VUS" "" "0000600890" "0" "50" "8" "59718696" "59718696" "subst" "0" "03464" "TOX_000012" "g.59718696C>T" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs2726599" "0" "" "" "g.58806137C>T" "" "VUS" "" "0000600891" "0" "50" "8" "59725501" "59725501" "subst" "0" "03464" "TOX_000013" "g.59725501A>C" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs3109904" "0" "" "" "g.58812942A>C" "" "VUS" "" "0000600892" "0" "50" "8" "59732049" "59732049" "subst" "0" "03464" "TOX_000014" "g.59732049T>A" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs7821556" "0" "" "" "g.58819490T>A" "" "VUS" "" "0000600893" "0" "50" "8" "59734839" "59734839" "subst" "0" "03464" "TOX_000015" "g.59734839C>G" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs7817609" "0" "" "" "g.58822280C>G" "" "VUS" "" "0000600894" "0" "50" "8" "58828331" "58828331" "subst" "0" "03464" "TOX_000016" "g.58828331T>G" "" "{PMID:Sebastiani 2008:17918249}" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs826730" "0" "" "" "g.58828331T>G" "" "VUS" "" "0000600895" "0" "50" "8" "59744222" "59744222" "subst" "0" "03464" "TOX_000017" "g.59744222C>T" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs3779999" "0" "" "" "g.58831663C>T" "" "VUS" "" "0000600896" "0" "50" "8" "59761734" "59761734" "subst" "0" "03464" "TOX_000018" "g.59761734T>C" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs1349115" "0" "" "" "g.58849175T>C" "" "VUS" "" "0000600897" "0" "50" "8" "59790210" "59790210" "subst" "0" "03464" "TOX_000019" "g.59790210G>C" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs2594953" "0" "" "" "g.58877651G>C" "" "VUS" "" "0000600898" "0" "50" "8" "59883327" "59883327" "subst" "0" "03464" "TOX_000020" "g.59883327A>T" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs10283344" "0" "" "" "g.58970768A>T" "" "VUS" "" "0000600899" "0" "50" "8" "59886312" "59886312" "subst" "0" "03464" "TOX_000021" "g.59886312T>A" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs12545204" "0" "" "" "g.58973753T>A" "" "VUS" "" "0000656123" "0" "30" "8" "59764361" "59764361" "subst" "0" "01943" "TOX_000024" "g.59764361G>A" "" "" "" "TOX(NM_014729.2):c.415C>T (p.P139S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58851802G>A" "" "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 TOX ## Count = 24 "{{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}}" "0000332133" "00021652" "50" "1136" "0" "1136" "0" "c.1136C>T" "r.(?)" "p.(Pro379Leu)" "" "0000332134" "00021652" "50" "7" "0" "7" "0" "c.7G>C" "r.(?)" "p.(Val3Leu)" "" "0000600879" "00021652" "50" "412" "-26539" "412" "-26539" "c.412-26539A>G" "r.(?)" "p.(=)" "" "0000600880" "00021652" "50" "411" "3031" "411" "3031" "c.411+3031C>T" "r.(?)" "p.(=)" "" "0000600881" "00021652" "50" "103" "-74856" "103" "-74856" "c.103-74856G>A" "r.(?)" "p.(=)" "" "0000600882" "00021652" "50" "1005" "468" "1005" "468" "c.1005+468C>T" "r.(?)" "p.(=)" "" "0000600883" "00021652" "50" "102" "73304" "102" "73304" "c.102+73304T>C" "r.(?)" "p.(=)" "" "0000600884" "00021652" "50" "411" "9191" "411" "9191" "c.411+9191T>G" "r.(?)" "p.(=)" "" "0000600885" "00021652" "50" "411" "5750" "411" "5750" "c.411+5750A>C" "r.(?)" "p.(=)" "" "0000600886" "00021652" "50" "168" "325" "168" "325" "c.168+325T>C" "r.(?)" "p.(=)" "" "0000600887" "00021652" "50" "103" "-64549" "103" "-64549" "c.103-64549A>C" "r.(?)" "p.(=)" "" "0000600888" "00021652" "50" "103" "-65076" "103" "-65076" "c.103-65076C>T" "r.(?)" "p.(=)" "" "0000600889" "00021652" "50" "103" "-66615" "103" "-66615" "c.103-66615T>G" "r.(?)" "p.(=)" "" "0000600890" "00021652" "50" "3191" "0" "3191" "0" "c.*1610G>A" "r.(?)" "p.(=)" "" "0000600891" "00021652" "50" "1392" "2396" "1392" "2396" "c.1392+2396T>G" "r.(?)" "p.(=)" "" "0000600892" "00021652" "50" "1006" "-3766" "1006" "-3766" "c.1006-3766A>T" "r.(?)" "p.(=)" "" "0000600893" "00021652" "50" "1005" "4542" "1005" "4542" "c.1005+4542G>C" "r.(?)" "p.(=)" "" "0000600894" "00021652" "50" "925" "-1429" "925" "-1429" "c.925-1429A>C" "r.(?)" "p.(=)" "" "0000600895" "00021652" "50" "925" "-4761" "925" "-4761" "c.925-4761G>A" "r.(?)" "p.(=)" "" "0000600896" "00021652" "50" "693" "2349" "693" "2349" "c.693+2349A>G" "r.(?)" "p.(=)" "" "0000600897" "00021652" "50" "412" "-25846" "412" "-25846" "c.412-25846C>G" "r.(?)" "p.(=)" "" "0000600898" "00021652" "50" "103" "-10760" "103" "-10760" "c.103-10760T>A" "r.(?)" "p.(=)" "" "0000600899" "00021652" "50" "103" "-13745" "103" "-13745" "c.103-13745A>T" "r.spl" "p.(=)" "" "0000656123" "00021652" "30" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Pro139Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000268202" "0000600879" "0000268203" "0000600880" "0000268204" "0000600881" "0000268205" "0000600882" "0000268206" "0000600883" "0000268207" "0000600884" "0000268208" "0000600885" "0000268209" "0000600886" "0000268210" "0000600887" "0000268211" "0000600888" "0000268212" "0000600889" "0000268213" "0000600890" "0000268214" "0000600891" "0000268215" "0000600892" "0000268216" "0000600893" "0000268217" "0000600894" "0000268218" "0000600895" "0000268219" "0000600896" "0000268220" "0000600897" "0000268221" "0000600898" "0000268222" "0000600899"