### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SEPT9) # 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}}" "SEPT9" "septin 9" "17" "q25.3" "unknown" "NG_011683.1" "UD_132118844521" "" "http://www.LOVD.nl/SEPT9" "" "1" "7323" "10801" "604061" "1" "1" "1" "1" "This database is one of the gene variant databases from the:
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. Variants submitted here will be shared with the IPNMDB." "" "" "" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2016-04-15 11:43:31" "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}}" "00018678" "SEPT9" "transcript variant 3" "003" "NM_006640.4" "" "NP_006631.2" "" "" "" "-812" "3645" "1707" "75315597" "75496678" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "01464" "HNA" "amyotrophy, neuralgic, hereditary" "AD" "162100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SEPT9" "01464" ## Individuals ## Do not remove or alter this header ## ## Count = 28 "{{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}}" "00037023" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037024" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037025" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037026" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037027" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037028" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037029" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037030" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037031" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037032" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037033" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037034" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037035" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037036" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037037" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037038" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037039" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037040" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037041" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037042" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037043" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00207796" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00291855" "" "" "" "240" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291856" "" "" "" "190" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300095" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SEPT9-a" "00300108" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SEPT9-b" "00304602" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304603" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00037027" "00198" "00037028" "00198" "00291855" "00198" "00291856" "00198" "00300095" "05384" "00300108" "05384" "00304602" "00198" "00304603" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01464, 05384 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000155579" "00198" "00207796" "01164" "Unknown" "" "HP:0010980 (Hyperlipoproteinemia); HP:0001315 (Reduced tendon reflexes); HP:0001513 (Obesity); HP:0003149 (Hyperuricosuria); HP:0000819 (Diabetes mellitus); HP:0004323 (Abnormality of body weight); HP:0100022 (Abnormality of movement); HP:0001252 (Muscular hypotonia); HP:0001265 (Hyporeflexia); HP:0000771 (Gynecomastia); HP:0001288 (Gait disturbance); HP:0001903 (Anemia)" "" "" "" "" "" "" "" "" "" "" "" "0000156795" "00198" "00037027" "01164" "Unknown" "" "Plexusamyotrophie" "" "" "" "" "" "" "" "" "" "amyotrophy" "" "0000156796" "00198" "00037028" "01164" "Unknown" "" "Plexusamyotrophie" "" "" "" "" "" "" "" "" "" "amyotrophy" "" "0000227416" "05384" "00300095" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "complex inherited peripheral neuropathy" "" "0000227429" "05384" "00300108" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "complex inherited peripheral neuropathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037093" "00037023" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037094" "00037024" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037095" "00037025" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037096" "00037026" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037097" "00037027" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037098" "00037028" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037099" "00037029" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037100" "00037030" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037101" "00037031" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037102" "00037032" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037103" "00037033" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037104" "00037034" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037105" "00037035" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037106" "00037036" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037107" "00037037" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037108" "00037038" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037109" "00037039" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037110" "00037040" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037111" "00037041" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037112" "00037042" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037113" "00037043" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000208837" "00207796" "1" "01164" "01164" "2018-11-30 14:43:57" "" "" "SEQ-NG" "DNA" "" "" "0000293023" "00291855" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293024" "00291856" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301211" "00300095" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301224" "00300108" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000305731" "00304602" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305732" "00304603" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{geneid}}" "0000037093" "SEPT9" "0000037094" "SEPT9" "0000037095" "SEPT9" "0000037096" "SEPT9" "0000037097" "SEPT9" "0000037098" "SEPT9" "0000037099" "SEPT9" "0000037100" "SEPT9" "0000037101" "SEPT9" "0000037102" "SEPT9" "0000037103" "SEPT9" "0000037104" "SEPT9" "0000037105" "SEPT9" "0000037106" "SEPT9" "0000037107" "SEPT9" "0000037108" "SEPT9" "0000037109" "SEPT9" "0000037110" "SEPT9" "0000037111" "SEPT9" "0000037112" "SEPT9" "0000037113" "SEPT9" "0000301211" "SEPT9" "0000301224" "SEPT9" ## 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 = 140 "{{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}}" "0000064218" "1" "50" "17" "75315558" "75315558" "subst" "0" "01164" "SEPT9_000002" "g.75315558C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77319476C>T" "" "VUS" "" "0000064219" "1" "10" "17" "75277611" "75277611" "subst" "0.0873011" "01164" "SEPT9_000019" "g.75277611A>C" "" "" "" "" "" "Germline" "" "rs8070026" "0" "" "" "g.77281529A>C" "" "benign" "" "0000064220" "1" "10" "17" "75372130" "75372130" "del" "0" "01164" "SEPT9_000004" "g.75372130del" "" "" "" "" "" "Germline" "" "rs76223580" "0" "" "" "g.77376048del" "" "benign" "" "0000064221" "1" "10" "17" "75494795" "75494795" "dup" "0" "01164" "SEPT9_000011" "g.75494795dup" "" "" "" "" "" "Germline" "" "rs5822173" "0" "" "" "g.77498713dup" "" "benign" "" "0000064222" "1" "10" "17" "75489167" "75489167" "subst" "0.00572377" "01164" "SEPT9_000015" "g.75489167C>T" "" "" "" "" "" "Germline" "" "rs148975193" "0" "" "" "g.77493085C>T" "" "benign" "" "0000064223" "1" "10" "17" "75372447" "75372447" "subst" "0" "01164" "SEPT9_000005" "g.75372447G>A" "" "" "" "" "" "Germline" "" "rs140282527" "0" "" "" "g.77376365G>A" "" "benign" "" "0000064224" "1" "50" "17" "75398664" "75398664" "subst" "0.000146906" "01164" "SEPT9_000013" "g.75398664C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77402582C>T" "" "VUS" "" "0000064225" "1" "50" "17" "75284180" "75284180" "subst" "0" "01164" "SEPT9_000001" "g.75284180C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77288098C>T" "" "VUS" "" "0000064226" "1" "50" "17" "75486767" "75486768" "ins" "0" "01164" "SEPT9_000014" "g.75486767_75486768insC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77490685_77490686insC" "" "VUS" "" "0000064227" "1" "10" "17" "75489283" "75489283" "dup" "0" "01164" "SEPT9_000016" "g.75489283dup" "" "" "" "" "" "Germline" "" "rs112645788" "0" "" "" "g.77493201dup" "" "benign" "" "0000064228" "1" "50" "17" "75496640" "75496640" "subst" "0" "01164" "SEPT9_000009" "g.75496640A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77500558A>G" "" "VUS" "" "0000064229" "1" "10" "17" "75496342" "75496342" "subst" "0" "01164" "SEPT9_000008" "g.75496342T>C" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs448767" "0" "" "" "g.77500260T>C" "" "benign" "" "0000064230" "1" "50" "17" "75495529" "75495529" "subst" "0.00164361" "01164" "SEPT9_000007" "g.75495529G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77499447G>A" "" "VUS" "" "0000064231" "1" "50" "17" "75398217" "75398217" "subst" "0" "01164" "SEPT9_000017" "g.75398217A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77402135A>G" "" "VUS" "" "0000064232" "1" "10" "17" "75489283" "75489283" "dup" "0" "01164" "SEPT9_000016" "g.75489283dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77493201dup" "" "benign" "" "0000064233" "1" "50" "17" "75369701" "75369701" "subst" "0" "01164" "SEPT9_000003" "g.75369701C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77373619C>T" "" "VUS" "" "0000064234" "1" "10" "17" "75495065" "75495065" "subst" "0.572062" "01164" "SEPT9_000012" "g.75495065T>C" "" "" "" "" "" "Germline" "" "rs448203" "0" "" "" "g.77498983T>C" "" "benign" "" "0000064235" "1" "10" "17" "75494795" "75494795" "dup" "0" "01164" "SEPT9_000011" "g.75494795dup" "" "" "" "" "" "Germline" "" "rs5822173" "0" "" "" "g.77498713dup" "" "benign" "" "0000064236" "1" "10" "17" "75494780" "75494780" "subst" "0.202038" "01164" "SEPT9_000010" "g.75494780A>T" "" "" "" "" "" "Germline" "" "rs11537705" "0" "" "" "g.77498698A>T" "" "benign" "" "0000064237" "1" "10" "17" "75495523" "75495523" "subst" "0.017683" "01164" "SEPT9_000006" "g.75495523A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77499441A>G" "" "benign" "" "0000064238" "1" "90" "17" "75398380" "75398380" "subst" "0" "01164" "SEPT9_000018" "g.75398380C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77402298C>T" "" "pathogenic" "" "0000247444" "0" "10" "17" "75494705" "75494705" "subst" "0.939023" "02330" "SEPT9_000037" "g.75494705A>G" "" "" "" "SEPTIN9(NM_006640.5):c.1672A>G (p.M558V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77498623A>G" "" "benign" "" "0000247461" "0" "10" "17" "75277611" "75277611" "subst" "0.0873011" "02330" "SEPT9_000019" "g.75277611A>C" "" "" "" "SEPTIN9(NM_001113491.2):c.-7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77281529A>C" "" "benign" "" "0000247462" "0" "10" "17" "75494746" "75494746" "subst" "0.533949" "02330" "SEPT9_000038" "g.75494746A>G" "" "" "" "SEPTIN9(NM_006640.5):c.*6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77498664A>G" "" "benign" "" "0000247463" "0" "10" "17" "75494780" "75494780" "subst" "0.202038" "02330" "SEPT9_000010" "g.75494780A>T" "" "" "" "SEPTIN9(NM_006640.5):c.*40A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77498698A>T" "" "benign" "" "0000247464" "0" "10" "17" "75496361" "75496361" "subst" "0" "02330" "SEPT9_000041" "g.75496361A>G" "" "" "" "SEPTIN9(NM_006640.5):c.*1621A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77500279A>G" "" "benign" "" "0000248405" "0" "10" "17" "75494705" "75494705" "subst" "0.939023" "02325" "SEPT9_000037" "g.75494705A>G" "" "" "" "SEPTIN9(NM_006640.5):c.1672A>G (p.M558V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77498623A>G" "" "benign" "" "0000295731" "0" "90" "17" "75316275" "75316275" "subst" "0" "02330" "SEPT9_000020" "g.75316275G>C" "" "" "" "SEPTIN9(NM_006640.5):c.-134G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77320193G>C" "" "pathogenic" "" "0000295732" "0" "10" "17" "75369578" "75369578" "subst" "0.37587" "02330" "SEPT9_000022" "g.75369578T>C" "" "" "" "SEPTIN9(NM_001113493.2):c.-2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77373496T>C" "" "benign" "" "0000295733" "0" "10" "17" "75303298" "75303298" "subst" "0.885383" "02330" "SEPT9_000047" "g.75303298T>C" "" "" "" "SEPTIN9(NM_001113491.2):c.76+19T>C, SEPTIN9(NM_001113492.2):c.-417+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77307216T>C" "" "benign" "" "0000295734" "0" "10" "17" "75372339" "75372339" "subst" "0" "02330" "SEPT9_000023" "g.75372339C>T" "" "" "" "SEPTIN9(NM_001113494.1):c.-558C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77376257C>T" "" "benign" "" "0000295735" "0" "10" "17" "75495840" "75495840" "subst" "0" "02330" "SEPT9_000040" "g.75495840T>C" "" "" "" "SEPTIN9(NM_006640.5):c.*1100T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77499758T>C" "" "benign" "" "0000295736" "0" "10" "17" "75496342" "75496342" "subst" "0" "02330" "SEPT9_000008" "g.75496342T>C" "" "" "" "SEPTIN9(NM_006640.5):c.*1602T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77500260T>C" "" "benign" "" "0000295737" "0" "10" "17" "75496460" "75496460" "subst" "0" "02330" "SEPT9_000042" "g.75496460T>C" "" "" "" "SEPTIN9(NM_006640.5):c.*1720T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77500378T>C" "" "benign" "" "0000295738" "0" "10" "17" "75495065" "75495065" "subst" "0.572062" "02330" "SEPT9_000012" "g.75495065T>C" "" "" "" "SEPTIN9(NM_006640.5):c.*325T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77498983T>C" "" "benign" "" "0000295739" "0" "10" "17" "75495397" "75495397" "subst" "0.529651" "02330" "SEPT9_000039" "g.75495397T>C" "" "" "" "SEPTIN9(NM_006640.5):c.*657T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77499315T>C" "" "benign" "" "0000295740" "0" "10" "17" "75484804" "75484804" "subst" "0.0114202" "02330" "SEPT9_000033" "g.75484804C>T" "" "" "" "SEPTIN9(NM_006640.5):c.1071-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77488722C>T" "" "benign" "" "0000295741" "0" "10" "17" "75489167" "75489167" "subst" "0.00572377" "02330" "SEPT9_000015" "g.75489167C>T" "" "" "" "SEPTIN9(NM_006640.4):c.1519+9C>T, SEPTIN9(NM_006640.5):c.1519+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77493085C>T" "" "benign" "" "0000295742" "0" "10" "17" "75493387" "75493387" "subst" "0.00368511" "02330" "SEPT9_000035" "g.75493387C>T" "" "" "" "SEPT9(NM_006640.4):c.1520-10C>T, SEPTIN9(NM_006640.4):c.1520-10C>T, SEPTIN9(NM_006640.5):c.1520-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77497305C>T" "" "benign" "" "0000295743" "0" "30" "17" "75493458" "75493459" "del" "1.22411E-5" "02330" "SEPT9_000036" "g.75493458_75493459del" "" "" "" "SEPTIN9(NM_006640.5):c.1571+10_1571+11delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77497376_77497377del" "" "likely benign" "" "0000295744" "0" "10" "17" "75401191" "75401191" "subst" "0" "02330" "SEPT9_000030" "g.75401191C>T" "" "" "" "SEPTIN9(NM_001293696.2):c.18C>T (p.C6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77405109C>T" "" "benign" "" "0000295745" "0" "10" "17" "75398332" "75398332" "subst" "0.000714262" "02330" "SEPT9_000024" "g.75398332C>T" "" "" "" "SEPTIN9(NM_006640.5):c.214C>T (p.L72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77402250C>T" "" "benign" "" "0000295746" "0" "30" "17" "75316450" "75316450" "subst" "0.00290937" "02330" "SEPT9_000021" "g.75316450C>T" "" "" "" "SEPTIN9(NM_006640.5):c.22+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77320368C>T" "" "likely benign" "" "0000295747" "0" "90" "17" "75398380" "75398380" "subst" "0" "02330" "SEPT9_000018" "g.75398380C>T" "" "" "" "SEPT9(NM_006640.4):c.262C>T (p.R88W), SEPTIN9(NM_006640.5):c.262C>T (p.R88W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77402298C>T" "" "pathogenic" "" "0000295748" "0" "90" "17" "75398396" "75398396" "subst" "0" "02330" "SEPT9_000025" "g.75398396C>T" "" "" "" "SEPTIN9(NM_006640.5):c.278C>T (p.S93F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77402314C>T" "" "pathogenic" "" "0000295749" "0" "50" "17" "75398411" "75398411" "subst" "0" "02330" "SEPT9_000026" "g.75398411C>T" "" "" "" "SEPTIN9(NM_006640.5):c.293C>T (p.S98F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77402329C>T" "" "VUS" "" "0000295750" "0" "10" "17" "75398498" "75398498" "subst" "0.0834608" "02330" "SEPT9_000027" "g.75398498C>T" "" "" "" "SEPTIN9(NM_006640.5):c.380C>T (p.P127L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77402416C>T" "" "benign" "" "0000295751" "0" "10" "17" "75401190" "75401190" "subst" "0" "02330" "SEPT9_000029" "g.75401190G>A" "" "" "" "SEPTIN9(NM_001293696.2):c.17G>A (p.C6Y), SEPTIN9(NM_006640.5):c.667+2405G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77405108G>A" "" "benign" "" "0000295752" "0" "30" "17" "75483502" "75483502" "subst" "0.000608875" "02330" "SEPT9_000031" "g.75483502C>T" "" "" "" "SEPTIN9(NM_006640.4):c.860-4C>T, SEPTIN9(NM_006640.5):c.860-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77487420C>T" "" "likely benign" "" "0000295753" "0" "50" "17" "75483566" "75483566" "subst" "4.50303E-5" "02330" "SEPT9_000032" "g.75483566G>A" "" "" "" "SEPTIN9(NM_006640.5):c.920G>A (p.R307Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77487484G>A" "" "VUS" "" "0000298102" "0" "10" "17" "75369578" "75369578" "subst" "0.37587" "02325" "SEPT9_000022" "g.75369578T>C" "" "" "" "SEPTIN9(NM_001113493.2):c.-2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77373496T>C" "" "benign" "" "0000298103" "0" "10" "17" "75303298" "75303298" "subst" "0.885383" "02325" "SEPT9_000047" "g.75303298T>C" "" "" "" "SEPTIN9(NM_001113491.2):c.76+19T>C, SEPTIN9(NM_001113492.2):c.-417+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77307216T>C" "" "benign" "" "0000298104" "0" "10" "17" "75401190" "75401190" "subst" "0" "02325" "SEPT9_000029" "g.75401190G>A" "" "" "" "SEPTIN9(NM_001293696.2):c.17G>A (p.C6Y), SEPTIN9(NM_006640.5):c.667+2405G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77405108G>A" "" "benign" "" "0000302037" "0" "70" "17" "75489160" "75489160" "subst" "0" "02326" "SEPT9_000034" "g.75489160T>A" "" "" "" "SEPTIN9(NM_006640.4):c.1519+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77493078T>A" "" "likely pathogenic" "" "0000302038" "0" "30" "17" "75489167" "75489167" "subst" "0.00572377" "02326" "SEPT9_000015" "g.75489167C>T" "" "" "" "SEPTIN9(NM_006640.4):c.1519+9C>T, SEPTIN9(NM_006640.5):c.1519+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77493085C>T" "" "likely benign" "" "0000302039" "0" "30" "17" "75493387" "75493387" "subst" "0.00368511" "02326" "SEPT9_000035" "g.75493387C>T" "" "" "" "SEPT9(NM_006640.4):c.1520-10C>T, SEPTIN9(NM_006640.4):c.1520-10C>T, SEPTIN9(NM_006640.5):c.1520-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77497305C>T" "" "likely benign" "" "0000302040" "0" "30" "17" "75398578" "75398578" "subst" "9.0082E-5" "02326" "SEPT9_000028" "g.75398578G>A" "" "" "" "SEPTIN9(NM_006640.4):c.460G>A (p.V154I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77402496G>A" "" "likely benign" "" "0000302041" "0" "30" "17" "75483502" "75483502" "subst" "0.000608875" "02326" "SEPT9_000031" "g.75483502C>T" "" "" "" "SEPTIN9(NM_006640.4):c.860-4C>T, SEPTIN9(NM_006640.5):c.860-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77487420C>T" "" "likely benign" "" "0000307891" "0" "90" "17" "75398380" "75398380" "subst" "0" "01943" "SEPT9_000018" "g.75398380C>T" "" "" "" "SEPT9(NM_006640.4):c.262C>T (p.R88W), SEPTIN9(NM_006640.5):c.262C>T (p.R88W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77402298C>T" "" "pathogenic" "" "0000438829" "0" "50" "17" "75488767" "75488767" "subst" "2.43667E-5" "01164" "SEPT9_000043" "g.75488767C>T" "" "" "" "" "patient has a likely pathogenic variant in MYOT" "Germline" "" "rs780672539" "0" "" "" "g.77492685C>T" "" "VUS" "ACMG" "0000563169" "0" "10" "17" "75277978" "75277978" "subst" "0" "02330" "SEPT9_000044" "g.75277978T>A" "" "" "" "SEPTIN9(NM_001113491.2):c.19+342T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77281896T>A" "" "benign" "" "0000563170" "0" "10" "17" "75303102" "75303102" "subst" "0" "02330" "SEPT9_000045" "g.75303102G>A" "" "" "" "SEPTIN9(NM_001113492.2):c.-473-121G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77307020G>A" "" "benign" "" "0000563171" "0" "50" "17" "75303261" "75303261" "subst" "0" "02330" "SEPT9_000046" "g.75303261G>T" "" "" "" "SEPTIN9(NM_001113491.2):c.58G>T (p.G20C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77307179G>T" "" "VUS" "" "0000563172" "0" "10" "17" "75303502" "75303502" "subst" "0" "02330" "SEPT9_000048" "g.75303502G>A" "" "" "" "SEPTIN9(NM_001113492.2):c.-417+223G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77307420G>A" "" "benign" "" "0000563173" "0" "10" "17" "75398265" "75398265" "subst" "0.00202144" "02330" "SEPT9_000049" "g.75398265C>T" "" "" "" "SEPTIN9(NM_006640.4):c.147C>T (p.G49=), SEPTIN9(NM_006640.5):c.147C>T (p.G49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77402183C>T" "" "benign" "" "0000563174" "0" "50" "17" "75398287" "75398287" "subst" "2.44682E-5" "02330" "SEPT9_000050" "g.75398287G>T" "" "" "" "SEPTIN9(NM_006640.5):c.169G>T (p.A57S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77402205G>T" "" "VUS" "" "0000563175" "0" "50" "17" "75398524" "75398524" "subst" "0" "02330" "SEPT9_000051" "g.75398524A>G" "" "" "" "SEPTIN9(NM_006640.5):c.406A>G (p.I136V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77402442A>G" "" "VUS" "" "0000563176" "0" "30" "17" "75398774" "75398774" "subst" "0.000904876" "01943" "SEPT9_000052" "g.75398774G>A" "" "" "" "SEPT9(NM_006640.4):c.656G>A (p.R219Q), SEPTIN9(NM_006640.4):c.656G>A (p.R219Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77402692G>A" "" "likely benign" "" "0000563177" "0" "50" "17" "75401199" "75401199" "subst" "0" "02330" "SEPT9_000053" "g.75401199C>A" "" "" "" "SEPTIN9(NM_001293696.2):c.26C>A (p.T9K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77405117C>A" "" "VUS" "" "0000563178" "0" "10" "17" "75471762" "75471762" "subst" "0.0178416" "02330" "SEPT9_000054" "g.75471762G>A" "" "" "" "SEPTIN9(NM_001113495.2):c.-256G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77475680G>A" "" "benign" "" "0000563179" "0" "30" "17" "75471768" "75471768" "subst" "8.15548E-6" "02330" "SEPT9_000055" "g.75471768C>T" "" "" "" "SEPTIN9(NM_001113495.2):c.-250C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77475686C>T" "" "likely benign" "" "0000563180" "0" "10" "17" "75478481" "75478481" "subst" "0" "02330" "SEPT9_000056" "g.75478481C>T" "" "" "" "SEPTIN9(NM_006640.5):c.859+64C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77482399C>T" "" "benign" "" "0000563181" "0" "10" "17" "75478694" "75478694" "subst" "0" "02330" "SEPT9_000057" "g.75478694T>C" "" "" "" "SEPTIN9(NM_006640.5):c.859+277T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77482612T>C" "" "benign" "" "0000563182" "0" "10" "17" "75483528" "75483528" "subst" "0.00999674" "02330" "SEPT9_000058" "g.75483528C>T" "" "" "" "SEPTIN9(NM_006640.5):c.882C>T (p.S294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77487446C>T" "" "benign" "" "0000563183" "0" "10" "17" "75483644" "75483644" "subst" "0.00574013" "02330" "SEPT9_000059" "g.75483644C>T" "" "" "" "SEPTIN9(NM_006640.5):c.988+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77487562C>T" "" "benign" "" "0000563184" "0" "10" "17" "75484001" "75484001" "subst" "0" "02330" "SEPT9_000060" "g.75484001G>A" "" "" "" "SEPTIN9(NM_006640.5):c.989-321G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77487919G>A" "" "benign" "" "0000563185" "0" "10" "17" "75484073" "75484073" "subst" "0" "02330" "SEPT9_000061" "g.75484073T>C" "" "" "" "SEPTIN9(NM_006640.5):c.989-249T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77487991T>C" "" "benign" "" "0000563186" "0" "10" "17" "75484156" "75484156" "subst" "0" "02330" "SEPT9_000062" "g.75484156C>T" "" "" "" "SEPTIN9(NM_006640.5):c.989-166C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77488074C>T" "" "benign" "" "0000563187" "0" "10" "17" "75484203" "75484203" "del" "0" "02330" "SEPT9_000063" "g.75484203del" "" "" "" "SEPTIN9(NM_006640.5):c.989-119delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77488121del" "" "benign" "" "0000563188" "0" "30" "17" "75484304" "75484304" "subst" "0" "02330" "SEPT9_000064" "g.75484304G>T" "" "" "" "SEPTIN9(NM_006640.5):c.989-18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77488222G>T" "" "likely benign" "" "0000563189" "0" "50" "17" "75484343" "75484343" "subst" "9.34124E-5" "02330" "SEPT9_000065" "g.75484343G>A" "" "" "" "SEPTIN9(NM_006640.5):c.1010G>A (p.R337Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77488261G>A" "" "VUS" "" "0000563190" "0" "10" "17" "75484700" "75484700" "subst" "0" "02330" "SEPT9_000066" "g.75484700A>G" "" "" "" "SEPTIN9(NM_006640.5):c.1071-109A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77488618A>G" "" "benign" "" "0000563191" "0" "10" "17" "75484781" "75484781" "subst" "0.481232" "02330" "SEPT9_000067" "g.75484781T>C" "" "" "" "SEPTIN9(NM_006640.5):c.1071-28T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77488699T>C" "" "benign" "" "0000563192" "0" "30" "17" "75484932" "75484932" "subst" "0.000723913" "02326" "SEPT9_000068" "g.75484932C>T" "" "" "" "SEPTIN9(NM_006640.4):c.1194C>T (p.P398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77488850C>T" "" "likely benign" "" "0000563193" "0" "10" "17" "75485014" "75485014" "subst" "0" "02330" "SEPT9_000069" "g.75485014A>C" "" "" "" "SEPTIN9(NM_006640.5):c.1208+68A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77488932A>C" "" "benign" "" "0000563194" "0" "10" "17" "75485138" "75485138" "del" "0" "02330" "SEPT9_000070" "g.75485138del" "" "" "" "SEPTIN9(NM_006640.5):c.1208+192delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77489056del" "" "benign" "" "0000563195" "0" "10" "17" "75486681" "75486681" "subst" "0" "02330" "SEPT9_000071" "g.75486681C>T" "" "" "" "SEPTIN9(NM_006640.5):c.1209-143C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77490599C>T" "" "benign" "" "0000563196" "0" "10" "17" "75487202" "75487202" "subst" "0" "02330" "SEPT9_000072" "g.75487202G>C" "" "" "" "SEPTIN9(NM_006640.5):c.1326+261G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77491120G>C" "" "benign" "" "0000563197" "0" "50" "17" "75488782" "75488782" "subst" "0.000122588" "02330" "SEPT9_000073" "g.75488782T>C" "" "" "" "SEPTIN9(NM_006640.5):c.1406T>C (p.V469A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77492700T>C" "" "VUS" "" "0000563198" "0" "10" "17" "75488973" "75488973" "subst" "0" "02330" "SEPT9_000074" "g.75488973C>T" "" "" "" "SEPTIN9(NM_006640.5):c.1423-89C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77492891C>T" "" "benign" "" "0000563199" "0" "10" "17" "75489015" "75489015" "subst" "0.4564" "02330" "SEPT9_000075" "g.75489015T>C" "" "" "" "SEPTIN9(NM_006640.5):c.1423-47T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77492933T>C" "" "benign" "" "0000563200" "0" "10" "17" "75489216" "75489216" "subst" "0" "02330" "SEPT9_000076" "g.75489216C>T" "" "" "" "SEPTIN9(NM_006640.5):c.1519+58C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77493134C>T" "" "benign" "" "0000563201" "0" "10" "17" "75489244" "75489244" "subst" "0" "02330" "SEPT9_000077" "g.75489244A>G" "" "" "" "SEPTIN9(NM_006640.5):c.1519+86A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77493162A>G" "" "benign" "" "0000563202" "0" "10" "17" "75489283" "75489283" "dup" "0" "02330" "SEPT9_000016" "g.75489283dup" "" "" "" "SEPTIN9(NM_006640.5):c.1519+125dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77493201dup" "" "benign" "" "0000563203" "0" "30" "17" "75493387" "75493387" "subst" "0.00368511" "01943" "SEPT9_000035" "g.75493387C>T" "" "" "" "SEPT9(NM_006640.4):c.1520-10C>T, SEPTIN9(NM_006640.4):c.1520-10C>T, SEPTIN9(NM_006640.5):c.1520-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77497305C>T" "" "likely benign" "" "0000563204" "0" "50" "17" "75494670" "75494670" "subst" "6.30734E-5" "02330" "SEPT9_000078" "g.75494670G>A" "" "" "" "SEPTIN9(NM_006640.4):c.1637G>A (p.R546H), SEPTIN9(NM_006640.5):c.1637G>A (p.R546H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77498588G>A" "" "VUS" "" "0000563205" "0" "10" "17" "75494731" "75494731" "subst" "0.00179462" "02330" "SEPT9_000079" "g.75494731G>A" "" "" "" "SEPT9(NM_006640.4):c.1698G>A (p.P566=), SEPTIN9(NM_006640.4):c.1698G>A (p.P566=), SEPTIN9(NM_006640.5):c.1698G>A (p.P566=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77498649G>A" "" "benign" "" "0000563206" "0" "30" "17" "75494731" "75494731" "subst" "0.00179462" "01943" "SEPT9_000079" "g.75494731G>A" "" "" "" "SEPT9(NM_006640.4):c.1698G>A (p.P566=), SEPTIN9(NM_006640.4):c.1698G>A (p.P566=), SEPTIN9(NM_006640.5):c.1698G>A (p.P566=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77498649G>A" "" "likely benign" "" "0000563207" "0" "10" "17" "75494795" "75494795" "dup" "0" "02330" "SEPT9_000011" "g.75494795dup" "" "" "" "SEPTIN9(NM_006640.5):c.*55dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77498713dup" "" "benign" "" "0000616829" "0" "50" "17" "75277638" "75277638" "del" "1.42627E-5" "02326" "SEPT9_000080" "g.75277638del" "" "" "" "SEPTIN9(NM_001113491.2):c.19+2delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77281556del" "" "VUS" "" "0000616830" "0" "50" "17" "75398417" "75398417" "subst" "0.000272594" "02330" "SEPT9_000081" "g.75398417A>C" "" "" "" "SEPTIN9(NM_006640.5):c.299A>C (p.Q100P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77402335A>C" "" "VUS" "" "0000616831" "0" "50" "17" "75398418" "75398418" "subst" "0.000268682" "02330" "SEPT9_000082" "g.75398418G>C" "" "" "" "SEPTIN9(NM_006640.5):c.300G>C (p.Q100H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77402336G>C" "" "VUS" "" "0000616832" "0" "50" "17" "75484835" "75484835" "subst" "2.43649E-5" "02327" "SEPT9_000083" "g.75484835A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77488753A>G" "" "VUS" "" "0000616833" "0" "30" "17" "75488720" "75488720" "subst" "0.000207102" "02330" "SEPT9_000084" "g.75488720G>A" "" "" "" "SEPTIN9(NM_006640.5):c.1344G>A (p.L448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77492638G>A" "" "likely benign" "" "0000616834" "0" "30" "17" "75494731" "75494731" "subst" "0.00179462" "02327" "SEPT9_000079" "g.75494731G>A" "" "" "" "SEPT9(NM_006640.4):c.1698G>A (p.P566=), SEPTIN9(NM_006640.4):c.1698G>A (p.P566=), SEPTIN9(NM_006640.5):c.1698G>A (p.P566=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77498649G>A" "" "likely benign" "" "0000649712" "1" "30" "17" "75484804" "75484804" "subst" "0.0114202" "03575" "SEPT9_000033" "g.75484804C>T" "240/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "240 heterozygous; {DB:CLININrs73377525}" "Germline" "" "rs73377525" "0" "" "" "g.77488722C>T" "" "likely benign" "" "0000649713" "1" "10" "17" "75495775" "75495775" "subst" "0" "03575" "SEPT9_000085" "g.75495775G>A" "190/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "190 heterozygous; {DB:CLININrs368116}" "Germline" "" "rs368116" "0" "" "" "g.77499693G>A" "" "benign" "" "0000664106" "0" "70" "17" "75398417" "75398418" "delins" "0" "00006" "SEPT9_000086" "g.75398417_75398418delinsCC" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.77402335_77402336delinsCC" "" "likely pathogenic (dominant)" "" "0000664119" "0" "70" "17" "75398417" "75398418" "delins" "0" "00006" "SEPT9_000086" "g.75398417_75398418delinsCC" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.77402335_77402336delinsCC" "" "likely pathogenic (dominant)" "" "0000669419" "3" "30" "17" "75484804" "75484804" "subst" "0.0114202" "03575" "SEPT9_000033" "g.75484804C>T" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs73377525}" "Germline" "" "rs73377525" "0" "" "" "g.77488722C>T" "" "likely benign" "" "0000669420" "3" "10" "17" "75495775" "75495775" "subst" "0" "03575" "SEPT9_000085" "g.75495775G>A" "3/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs368116}" "Germline" "" "rs368116" "0" "" "" "g.77499693G>A" "" "benign" "" "0000681033" "0" "30" "17" "75316389" "75316393" "dup" "0" "02330" "SEPT9_000087" "g.75316389_75316393dup" "" "" "" "SEPTIN9(NM_006640.5):c.-20_-16dupTGCTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726685" "0" "50" "17" "75303231" "75303231" "subst" "4.47365E-5" "01943" "SEPT9_000088" "g.75303231C>T" "" "" "" "SEPT9(NM_001113491.2):c.28C>T (p.R10W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726686" "0" "30" "17" "75398265" "75398265" "subst" "0.00202144" "02326" "SEPT9_000049" "g.75398265C>T" "" "" "" "SEPTIN9(NM_006640.4):c.147C>T (p.G49=), SEPTIN9(NM_006640.5):c.147C>T (p.G49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726687" "0" "50" "17" "75398608" "75398608" "subst" "0" "02330" "SEPT9_000089" "g.75398608G>A" "" "" "" "SEPTIN9(NM_006640.5):c.490G>A (p.D164N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726688" "0" "30" "17" "75478236" "75478236" "subst" "0.000178106" "01943" "SEPT9_000090" "g.75478236G>A" "" "" "" "SEPT9(NM_006640.4):c.678G>A (p.A226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726689" "0" "50" "17" "75483566" "75483566" "subst" "4.50303E-5" "02329" "SEPT9_000032" "g.75483566G>A" "" "" "" "SEPTIN9(NM_006640.5):c.920G>A (p.R307Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726690" "0" "30" "17" "75484845" "75484845" "subst" "9.74627E-5" "02326" "SEPT9_000091" "g.75484845C>T" "" "" "" "SEPTIN9(NM_006640.4):c.1107C>T (p.Y369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726691" "0" "30" "17" "75488795" "75488795" "subst" "0.000162475" "02330" "SEPT9_000092" "g.75488795C>T" "" "" "" "SEPTIN9(NM_006640.5):c.1419C>T (p.F473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726692" "0" "30" "17" "75489176" "75489176" "subst" "2.68785E-5" "02326" "SEPT9_000093" "g.75489176C>T" "" "" "" "SEPTIN9(NM_006640.4):c.1519+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726693" "0" "30" "17" "75494731" "75494731" "subst" "0.00179462" "02326" "SEPT9_000079" "g.75494731G>A" "" "" "" "SEPT9(NM_006640.4):c.1698G>A (p.P566=), SEPTIN9(NM_006640.4):c.1698G>A (p.P566=), SEPTIN9(NM_006640.5):c.1698G>A (p.P566=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808266" "0" "10" "17" "75398751" "75398751" "subst" "0.000406259" "02330" "SEPT9_000094" "g.75398751C>T" "" "" "" "SEPTIN9(NM_006640.5):c.633C>T (p.P211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000808267" "0" "50" "17" "75488782" "75488782" "subst" "0.000122588" "02327" "SEPT9_000073" "g.75488782T>C" "" "" "" "SEPTIN9(NM_006640.5):c.1406T>C (p.V469A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855116" "0" "30" "17" "75471636" "75471636" "subst" "3.71781E-5" "02330" "SEPT9_000095" "g.75471636C>T" "" "" "" "SEPTIN9(NM_006640.5):c.668-6590C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855117" "0" "30" "17" "75489164" "75489164" "subst" "0" "02330" "SEPT9_000096" "g.75489164C>T" "" "" "" "SEPTIN9(NM_006640.5):c.1519+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855118" "0" "30" "17" "75494745" "75494745" "subst" "7.71698E-5" "02330" "SEPT9_000097" "g.75494745C>T" "" "" "" "SEPTIN9(NM_006640.5):c.*5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865511" "0" "10" "17" "75398774" "75398774" "subst" "0.000904876" "02326" "SEPT9_000052" "g.75398774G>A" "" "" "" "SEPT9(NM_006640.4):c.656G>A (p.R219Q), SEPTIN9(NM_006640.4):c.656G>A (p.R219Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894295" "0" "30" "17" "75303204" "75303204" "subst" "0.000313166" "02326" "SEPT9_000098" "g.75303204C>T" "" "" "" "SEPTIN9(NM_001113492.1):c.-473-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894296" "0" "30" "17" "75398664" "75398664" "subst" "0.000146906" "02330" "SEPT9_000013" "g.75398664C>T" "" "" "" "SEPTIN9(NM_006640.4):c.546C>T (p.T182=), SEPTIN9(NM_006640.5):c.546C>T (p.T182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894297" "0" "30" "17" "75478411" "75478411" "subst" "0.000290355" "02330" "SEPT9_000099" "g.75478411G>A" "" "" "" "SEPTIN9(NM_006640.4):c.853G>A (p.V285M), SEPTIN9(NM_006640.5):c.853G>A (p.V285M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894298" "0" "30" "17" "75478411" "75478411" "subst" "0.000290355" "02326" "SEPT9_000099" "g.75478411G>A" "" "" "" "SEPTIN9(NM_006640.4):c.853G>A (p.V285M), SEPTIN9(NM_006640.5):c.853G>A (p.V285M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894299" "0" "30" "17" "75484342" "75484342" "subst" "0.000365553" "02326" "SEPT9_000100" "g.75484342C>T" "" "" "" "SEPTIN9(NM_006640.4):c.1009C>T (p.R337W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894300" "0" "30" "17" "75494670" "75494670" "subst" "6.30734E-5" "02326" "SEPT9_000078" "g.75494670G>A" "" "" "" "SEPTIN9(NM_006640.4):c.1637G>A (p.R546H), SEPTIN9(NM_006640.5):c.1637G>A (p.R546H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926643" "0" "30" "17" "75484307" "75484307" "subst" "5.2809E-5" "02326" "SEPT9_000101" "g.75484307C>T" "" "" "" "SEPTIN9(NM_006640.4):c.989-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951040" "0" "10" "17" "75484318" "75484318" "subst" "0.00321687" "02330" "SEPT9_000102" "g.75484318G>A" "" "" "" "SEPTIN9(NM_006640.5):c.989-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951041" "0" "10" "17" "75484792" "75484792" "subst" "0.00320276" "02330" "SEPT9_000103" "g.75484792C>A" "" "" "" "SEPTIN9(NM_006640.5):c.1071-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951042" "0" "10" "17" "75484965" "75484965" "subst" "0.00324406" "02330" "SEPT9_000104" "g.75484965G>A" "" "" "" "SEPTIN9(NM_006640.5):c.1208+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982816" "0" "30" "17" "75398664" "75398664" "subst" "0.000146906" "02326" "SEPT9_000013" "g.75398664C>T" "" "" "" "SEPTIN9(NM_006640.4):c.546C>T (p.T182=), SEPTIN9(NM_006640.5):c.546C>T (p.T182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003713" "0" "50" "17" "75471618" "75471618" "subst" "4.14285E-6" "01804" "SEPT9_000105" "g.75471618G>A" "" "" "" "SEPT9(NM_001113495.1):c.18G>A (p.(Trp6*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015618" "0" "30" "17" "75398280" "75398280" "subst" "1.22282E-5" "02330" "SEPT9_000106" "g.75398280A>G" "" "" "" "SEPTIN9(NM_006640.5):c.162A>G (p.E54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SEPT9 ## Count = 140 "{{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}}" "0000064218" "00018678" "50" "-851" "0" "-851" "0" "c.-851C>T" "r.(=)" "p.(=)" "" "0000064219" "00018678" "10" "-38798" "0" "-38798" "0" "c.-38798A>C" "r.(=)" "p.(=)" "" "0000064220" "00018678" "10" "23" "-26011" "23" "-26011" "c.23-26011del" "r.(=)" "p.(=)" "" "0000064221" "00018678" "10" "1762" "0" "1762" "0" "c.*55dup" "r.(=)" "p.(=)" "" "0000064222" "00018678" "10" "1519" "9" "1519" "9" "c.1519+9C>T" "r.(=)" "p.(=)" "" "0000064223" "00018678" "10" "23" "-25694" "23" "-25694" "c.23-25694G>A" "r.(=)" "p.(=)" "" "0000064224" "00018678" "50" "546" "0" "546" "0" "c.546C>T" "r.(=)" "p.(=)" "" "0000064225" "00018678" "50" "-32229" "0" "-32229" "0" "c.-32229C>T" "r.(=)" "p.(=)" "" "0000064226" "00018678" "50" "1209" "-57" "1209" "-56" "c.1209-57_1209-56insC" "r.(=)" "p.(=)" "" "0000064227" "00018678" "10" "1519" "125" "1519" "125" "c.1519+125dup" "r.(=)" "p.(=)" "" "0000064228" "00018678" "50" "3607" "0" "3607" "0" "c.*1900A>G" "r.(=)" "p.(=)" "" "0000064229" "00018678" "10" "3309" "0" "3309" "0" "c.*1602T>C" "r.(=)" "p.(=)" "" "0000064230" "00018678" "50" "2496" "0" "2496" "0" "c.*789G>A" "r.(=)" "p.(=)" "" "0000064231" "00018678" "50" "99" "0" "99" "0" "c.99A>G" "r.(=)" "p.(=)" "" "0000064232" "00018678" "10" "1519" "125" "1519" "125" "c.1519+125dup" "r.(=)" "p.(=)" "" "0000064233" "00018678" "50" "23" "-28440" "23" "-28440" "c.23-28440C>T" "r.(=)" "p.(=)" "" "0000064234" "00018678" "10" "2032" "0" "2032" "0" "c.*325T>C" "r.(=)" "p.(=)" "" "0000064235" "00018678" "10" "1762" "0" "1762" "0" "c.*55dup" "r.(=)" "p.(=)" "" "0000064236" "00018678" "10" "1747" "0" "1747" "0" "c.*40A>T" "r.(=)" "p.(=)" "" "0000064237" "00018678" "10" "2490" "0" "2490" "0" "c.*783A>G" "r.(=)" "p.(=)" "" "0000064238" "00018678" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Trp)" "" "0000247444" "00018678" "10" "1672" "0" "1672" "0" "c.1672A>G" "r.(?)" "p.(Met558Val)" "" "0000247461" "00018678" "10" "-38798" "0" "-38798" "0" "c.-38798A>C" "r.(?)" "p.(=)" "" "0000247462" "00018678" "10" "1713" "0" "1713" "0" "c.*6A>G" "r.(=)" "p.(=)" "" "0000247463" "00018678" "10" "1747" "0" "1747" "0" "c.*40A>T" "r.(=)" "p.(=)" "" "0000247464" "00018678" "10" "3328" "0" "3328" "0" "c.*1621=" "r.(=)" "p.(=)" "" "0000248405" "00018678" "10" "1672" "0" "1672" "0" "c.1672A>G" "r.(?)" "p.(Met558Val)" "" "0000295731" "00018678" "90" "-134" "0" "-134" "0" "c.-134G>C" "r.(?)" "p.(=)" "" "0000295732" "00018678" "10" "23" "-28563" "23" "-28563" "c.23-28563T>C" "r.(=)" "p.(=)" "" "0000295733" "00018678" "10" "-13111" "0" "-13111" "0" "c.-13111T>C" "r.(?)" "p.(=)" "" "0000295734" "00018678" "10" "23" "-25802" "23" "-25802" "c.23-25802C>T" "r.(=)" "p.(=)" "" "0000295735" "00018678" "10" "2807" "0" "2807" "0" "c.*1100=" "r.(=)" "p.(=)" "" "0000295736" "00018678" "10" "3309" "0" "3309" "0" "c.*1602=" "r.(=)" "p.(=)" "" "0000295737" "00018678" "10" "3427" "0" "3427" "0" "c.*1720T>C" "r.(=)" "p.(=)" "" "0000295738" "00018678" "10" "2032" "0" "2032" "0" "c.*325T>C" "r.(=)" "p.(=)" "" "0000295739" "00018678" "10" "2364" "0" "2364" "0" "c.*657T>C" "r.(=)" "p.(=)" "" "0000295740" "00018678" "10" "1071" "-5" "1071" "-5" "c.1071-5C>T" "r.spl?" "p.?" "" "0000295741" "00018678" "10" "1519" "9" "1519" "9" "c.1519+9C>T" "r.(=)" "p.(=)" "" "0000295742" "00018678" "10" "1520" "-10" "1520" "-10" "c.1520-10C>T" "r.(=)" "p.(=)" "" "0000295743" "00018678" "30" "1571" "10" "1571" "11" "c.1571+10_1571+11del" "r.(=)" "p.(=)" "" "0000295744" "00018678" "10" "667" "2406" "667" "2406" "c.667+2406C>T" "r.(=)" "p.(=)" "" "0000295745" "00018678" "10" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Leu72=)" "" "0000295746" "00018678" "30" "22" "20" "22" "20" "c.22+20C>T" "r.(=)" "p.(=)" "" "0000295747" "00018678" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Trp)" "" "0000295748" "00018678" "90" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Ser93Phe)" "" "0000295749" "00018678" "50" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Ser98Phe)" "" "0000295750" "00018678" "10" "380" "0" "380" "0" "c.380C>T" "r.(?)" "p.(Pro127Leu)" "" "0000295751" "00018678" "10" "667" "2405" "667" "2405" "c.667+2405G>A" "r.(=)" "p.(=)" "" "0000295752" "00018678" "30" "860" "-4" "860" "-4" "c.860-4C>T" "r.spl?" "p.?" "" "0000295753" "00018678" "50" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Arg307Gln)" "" "0000298102" "00018678" "10" "23" "-28563" "23" "-28563" "c.23-28563T>C" "r.(=)" "p.(=)" "" "0000298103" "00018678" "10" "-13111" "0" "-13111" "0" "c.-13111T>C" "r.(?)" "p.(=)" "" "0000298104" "00018678" "10" "667" "2405" "667" "2405" "c.667+2405G>A" "r.(=)" "p.(=)" "" "0000302037" "00018678" "70" "1519" "2" "1519" "2" "c.1519+2T>A" "r.spl?" "p.?" "" "0000302038" "00018678" "30" "1519" "9" "1519" "9" "c.1519+9C>T" "r.(=)" "p.(=)" "" "0000302039" "00018678" "30" "1520" "-10" "1520" "-10" "c.1520-10C>T" "r.(=)" "p.(=)" "" "0000302040" "00018678" "30" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Val154Ile)" "" "0000302041" "00018678" "30" "860" "-4" "860" "-4" "c.860-4C>T" "r.spl?" "p.?" "" "0000307891" "00018678" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Trp)" "" "0000438829" "00018678" "50" "1391" "0" "1391" "0" "c.1391C>T" "r.(?)" "p.Ser464Leu" "" "0000563169" "00018678" "10" "-38431" "0" "-38431" "0" "c.-38431T>A" "r.(?)" "p.(=)" "" "0000563170" "00018678" "10" "-13307" "0" "-13307" "0" "c.-13307G>A" "r.(?)" "p.(=)" "" "0000563171" "00018678" "50" "-13148" "0" "-13148" "0" "c.-13148G>T" "r.(?)" "p.(=)" "" "0000563172" "00018678" "10" "-12907" "0" "-12907" "0" "c.-12907G>A" "r.(?)" "p.(=)" "" "0000563173" "00018678" "10" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(Gly49=)" "" "0000563174" "00018678" "50" "169" "0" "169" "0" "c.169G>T" "r.(?)" "p.(Ala57Ser)" "" "0000563175" "00018678" "50" "406" "0" "406" "0" "c.406A>G" "r.(?)" "p.(Ile136Val)" "" "0000563176" "00018678" "30" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219Gln)" "" "0000563177" "00018678" "50" "667" "2414" "667" "2414" "c.667+2414C>A" "r.(=)" "p.(=)" "" "0000563178" "00018678" "10" "668" "-6464" "668" "-6464" "c.668-6464G>A" "r.(=)" "p.(=)" "" "0000563179" "00018678" "30" "668" "-6458" "668" "-6458" "c.668-6458C>T" "r.(=)" "p.(=)" "" "0000563180" "00018678" "10" "859" "64" "859" "64" "c.859+64C>T" "r.(=)" "p.(=)" "" "0000563181" "00018678" "10" "859" "277" "859" "277" "c.859+277T>C" "r.(=)" "p.(=)" "" "0000563182" "00018678" "10" "882" "0" "882" "0" "c.882C>T" "r.(?)" "p.(Ser294=)" "" "0000563183" "00018678" "10" "988" "10" "988" "10" "c.988+10C>T" "r.(=)" "p.(=)" "" "0000563184" "00018678" "10" "989" "-321" "989" "-321" "c.989-321G>A" "r.(=)" "p.(=)" "" "0000563185" "00018678" "10" "989" "-249" "989" "-249" "c.989-249T>C" "r.(=)" "p.(=)" "" "0000563186" "00018678" "10" "989" "-166" "989" "-166" "c.989-166C>T" "r.(=)" "p.(=)" "" "0000563187" "00018678" "10" "989" "-119" "989" "-119" "c.989-119del" "r.(=)" "p.(=)" "" "0000563188" "00018678" "30" "989" "-18" "989" "-18" "c.989-18G>T" "r.(=)" "p.(=)" "" "0000563189" "00018678" "50" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Arg337Gln)" "" "0000563190" "00018678" "10" "1071" "-109" "1071" "-109" "c.1071-109A>G" "r.(=)" "p.(=)" "" "0000563191" "00018678" "10" "1071" "-28" "1071" "-28" "c.1071-28T>C" "r.(=)" "p.(=)" "" "0000563192" "00018678" "30" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.(Pro398=)" "" "0000563193" "00018678" "10" "1208" "68" "1208" "68" "c.1208+68A>C" "r.(=)" "p.(=)" "" "0000563194" "00018678" "10" "1208" "192" "1208" "192" "c.1208+192del" "r.(=)" "p.(=)" "" "0000563195" "00018678" "10" "1209" "-143" "1209" "-143" "c.1209-143C>T" "r.(=)" "p.(=)" "" "0000563196" "00018678" "10" "1326" "261" "1326" "261" "c.1326+261G>C" "r.(=)" "p.(=)" "" "0000563197" "00018678" "50" "1406" "0" "1406" "0" "c.1406T>C" "r.(?)" "p.(Val469Ala)" "" "0000563198" "00018678" "10" "1423" "-89" "1423" "-89" "c.1423-89C>T" "r.(=)" "p.(=)" "" "0000563199" "00018678" "10" "1423" "-47" "1423" "-47" "c.1423-47T>C" "r.(=)" "p.(=)" "" "0000563200" "00018678" "10" "1519" "58" "1519" "58" "c.1519+58C>T" "r.(=)" "p.(=)" "" "0000563201" "00018678" "10" "1519" "86" "1519" "86" "c.1519+86A>G" "r.(=)" "p.(=)" "" "0000563202" "00018678" "10" "1519" "125" "1519" "125" "c.1519+125dup" "r.(=)" "p.(=)" "" "0000563203" "00018678" "30" "1520" "-10" "1520" "-10" "c.1520-10C>T" "r.(=)" "p.(=)" "" "0000563204" "00018678" "50" "1637" "0" "1637" "0" "c.1637G>A" "r.(?)" "p.(Arg546His)" "" "0000563205" "00018678" "10" "1698" "0" "1698" "0" "c.1698G>A" "r.(?)" "p.(Pro566=)" "" "0000563206" "00018678" "30" "1698" "0" "1698" "0" "c.1698G>A" "r.(?)" "p.(Pro566=)" "" "0000563207" "00018678" "10" "1762" "0" "1762" "0" "c.*55dup" "r.(?)" "p.(=)" "" "0000616829" "00018678" "50" "-38771" "0" "-38771" "0" "c.-38771del" "r.(?)" "p.(=)" "" "0000616830" "00018678" "50" "299" "0" "299" "0" "c.299A>C" "r.(?)" "p.(Gln100Pro)" "" "0000616831" "00018678" "50" "300" "0" "300" "0" "c.300G>C" "r.(?)" "p.(Gln100His)" "" "0000616832" "00018678" "50" "1097" "0" "1097" "0" "c.1097A>G" "r.(?)" "p.(Asn366Ser)" "" "0000616833" "00018678" "30" "1344" "0" "1344" "0" "c.1344G>A" "r.(?)" "p.(Leu448=)" "" "0000616834" "00018678" "30" "1698" "0" "1698" "0" "c.1698G>A" "r.(?)" "p.(Pro566=)" "" "0000649712" "00018678" "30" "1071" "-5" "1071" "-5" "c.1071-5C>T" "r.spl?" "p.?" "" "0000649713" "00018678" "10" "2742" "0" "2742" "0" "c.*1035G>A" "r.(=)" "p.(=)" "" "0000664106" "00018678" "70" "299" "0" "300" "0" "c.299_300delinsCC" "r.(?)" "p.(Gln100Pro)" "" "0000664119" "00018678" "70" "299" "0" "300" "0" "c.299_300delinsCC" "r.(?)" "p.(Gln100Pro)" "" "0000669419" "00018678" "30" "1071" "-5" "1071" "-5" "c.1071-5C>T" "r.spl?" "p.?" "" "0000669420" "00018678" "10" "2742" "0" "2742" "0" "c.*1035G>A" "r.(=)" "p.(=)" "" "0000681033" "00018678" "30" "-20" "0" "-16" "0" "c.-20_-16dup" "r.(?)" "p.(=)" "" "0000726685" "00018678" "50" "-13178" "0" "-13178" "0" "c.-13178C>T" "r.(?)" "p.(=)" "" "0000726686" "00018678" "30" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(Gly49=)" "" "0000726687" "00018678" "50" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Asp164Asn)" "" "0000726688" "00018678" "30" "678" "0" "678" "0" "c.678G>A" "r.(?)" "p.(Ala226=)" "" "0000726689" "00018678" "50" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Arg307Gln)" "" "0000726690" "00018678" "30" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(Tyr369=)" "" "0000726691" "00018678" "30" "1419" "0" "1419" "0" "c.1419C>T" "r.(?)" "p.(Phe473=)" "" "0000726692" "00018678" "30" "1519" "18" "1519" "18" "c.1519+18C>T" "r.(=)" "p.(=)" "" "0000726693" "00018678" "30" "1698" "0" "1698" "0" "c.1698G>A" "r.(?)" "p.(Pro566=)" "" "0000808266" "00018678" "10" "633" "0" "633" "0" "c.633C>T" "r.(?)" "p.(Pro211=)" "" "0000808267" "00018678" "50" "1406" "0" "1406" "0" "c.1406T>C" "r.(?)" "p.(Val469Ala)" "" "0000855116" "00018678" "30" "668" "-6590" "668" "-6590" "c.668-6590C>T" "r.(=)" "p.(=)" "" "0000855117" "00018678" "30" "1519" "6" "1519" "6" "c.1519+6C>T" "r.(=)" "p.(=)" "" "0000855118" "00018678" "30" "1712" "0" "1712" "0" "c.*5C>T" "r.(=)" "p.(=)" "" "0000865511" "00018678" "10" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219Gln)" "" "0000894295" "00018678" "30" "-13205" "0" "-13205" "0" "c.-13205C>T" "r.(?)" "p.(=)" "" "0000894296" "00018678" "30" "546" "0" "546" "0" "c.546C>T" "r.(?)" "p.(Thr182=)" "" "0000894297" "00018678" "30" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Val285Met)" "" "0000894298" "00018678" "30" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Val285Met)" "" "0000894299" "00018678" "30" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337Trp)" "" "0000894300" "00018678" "30" "1637" "0" "1637" "0" "c.1637G>A" "r.(?)" "p.(Arg546His)" "" "0000926643" "00018678" "30" "989" "-15" "989" "-15" "c.989-15C>T" "r.(=)" "p.(=)" "" "0000951040" "00018678" "10" "989" "-4" "989" "-4" "c.989-4G>A" "r.spl?" "p.?" "" "0000951041" "00018678" "10" "1071" "-17" "1071" "-17" "c.1071-17C>A" "r.(=)" "p.(=)" "" "0000951042" "00018678" "10" "1208" "19" "1208" "19" "c.1208+19G>A" "r.(=)" "p.(=)" "" "0000982816" "00018678" "30" "546" "0" "546" "0" "c.546C>T" "r.(?)" "p.(Thr182=)" "" "0001003713" "00018678" "50" "668" "-6608" "668" "-6608" "c.668-6608G>A" "r.(=)" "p.(=)" "" "0001015618" "00018678" "30" "162" "0" "162" "0" "c.162A>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{variantid}}" "0000037093" "0000064218" "0000037094" "0000064219" "0000037095" "0000064220" "0000037096" "0000064221" "0000037097" "0000064222" "0000037098" "0000064223" "0000037099" "0000064224" "0000037100" "0000064225" "0000037101" "0000064226" "0000037102" "0000064227" "0000037103" "0000064228" "0000037104" "0000064229" "0000037105" "0000064230" "0000037106" "0000064231" "0000037107" "0000064232" "0000037108" "0000064233" "0000037109" "0000064234" "0000037110" "0000064235" "0000037111" "0000064236" "0000037112" "0000064237" "0000037113" "0000064238" "0000208837" "0000438829" "0000293023" "0000649712" "0000293024" "0000649713" "0000301211" "0000664106" "0000301224" "0000664119" "0000305731" "0000669419" "0000305732" "0000669420"