### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SNAPC4) # 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}}" "SNAPC4" "small nuclear RNA activating complex, polypeptide 4, 190kDa" "9" "q34.3" "unknown" "NC_000009.11" "UD_132610940902" "" "https://www.LOVD.nl/SNAPC4" "" "1" "11137" "6621" "602777" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SNAPC4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-04-03 19:32:14" "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}}" "00019502" "SNAPC4" "small nuclear RNA activating complex, polypeptide 4, 190kDa" "001" "NM_003086.2" "" "NP_003077.2" "" "" "" "-9" "4641" "4410" "139292889" "139270029" "" "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}}" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07164" "NEDRSO" "neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction" "AR" "620515" "" "" "" "00006" "2025-04-21 09:18:56" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SNAPC4" "05611" "SNAPC4" "07164" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00465221" "" "" "" "1" "" "01709" "" "" "F" "no" "Brazil" "" "0" "" "" "" "" "00465229" "" "" "" "1" "" "00006" "{PMID:Frost 2023:36965478}" "2-generation family, 1 affected, unaffed heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "Europe" "Fam1PatII2" "00465230" "" "" "" "1" "" "00006" "{PMID:Frost 2023:36965478}" "2-generation family, 1 affected, unaffed heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam2PatII1" "00465231" "" "" "" "2" "" "00006" "{PMID:Frost 2023:36965478}" "2-generation family, 2 affected brothers, unaffed heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam3PatII1" "00465232" "" "" "00465231" "1" "" "00006" "{PMID:Frost 2023:36965478}" "brother" "M" "" "" "" "0" "" "" "" "Fam3PatII2" "00465233" "" "" "" "1" "" "00006" "{PMID:Frost 2023:36965478}" "2-generation family, 1 affected, unaffed heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam4PatII1" "00465234" "" "" "" "1" "" "00006" "{PMID:Frost 2023:36965478}" "2-generation family, 1 affected, unaffed heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam5PatII1" "00465235" "" "" "" "2" "" "00006" "{PMID:Frost 2023:36965478}" "2-generation family, 2 affected sisters, unaffed heterozygous carrier parents" "F" "yes" "Morocco" "" "0" "" "" "" "Fam6PatII1" "00465236" "" "" "00465235" "1" "" "00006" "{PMID:Frost 2023:36965478}" "sister" "F" "yes" "Morocco" "" "0" "" "" "" "Fam6PatII2" "00465237" "" "" "" "1" "" "00006" "{PMID:Frost 2023:36965478}" "2-generation family, 1 affected, unaffed heterozygous carrier parents" "M" "yes" "Morocco" "" "0" "" "" "" "Fam7PatII1" "00465238" "" "" "" "1" "" "00006" "{PMID:Frost 2023:36965478}" "2-generation family, 1 affected, unaffed heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam8PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00465221" "00325" "00465229" "05611" "00465230" "05611" "00465231" "05611" "00465232" "05611" "00465233" "05611" "00465234" "05611" "00465235" "05611" "00465236" "05611" "00465237" "05611" "00465238" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00325, 05611, 07164 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000350764" "05611" "00465229" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth spontaneous vaginal delivery, weight 2,490 g (4th centile), length 45.7 cm (3rd centile); abnormal body weight (95th centile); short stature (12th centile); 9m-microcephaly (OFC -2.17 SD, 1st centile); developmental/motor regression (onset 15m); spasticity (progressive, ascending); spastic quadriparesis; dystonia; dysarthria; gait abnormalities; increased deep tendon reflexes; MRI brain mild cerebral atrophy" "" "" "" "" "" "" "" "NEDRSO" "neurodevelopmental disorder" "0000350765" "05611" "00465230" "00006" "Familial, autosomal recessive" "" "birth emergency Caesarean section, weight 3,345 g (60th centile), length 49.5 cm (58th centile); abnormal body weight (<1st centile); short stature (<1st centile); no microcephaly; developmental/motor regression (onset 15m); spasticity (progressive, ascending); spastic quadriparesis; dystonia; drooling, non-verbal; non-ambulatory; increased deep tendon reflexes; MRI brain severe atrophy of cerebellum, striatum" "" "" "" "" "" "" "" "NEDRSO" "Leigh’s disease" "0000350766" "05611" "00465231" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth spontaneous vaginal delivery, weight 3,288 g (45th centile); normal weight; short stature (2nd centile); 13y-microcephaly (OFC -2.12 SD, 2nd centile); developmental/motor regression (onset 30m); spasticity (progressive, ascending); spastic quadriparesis; dystonia; drooling, dysarthria; gait abnormalities; increased deep tendon reflexes" "" "" "" "" "" "" "" "NEDRSO" "neurodevelopmental disorder" "0000350767" "05611" "00465232" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth spontaneous vaginal delivery, weight 3,773 g (80th centile), length 53.3 cm (96th centile); normal weight; short stature (<1st centile); 3y-microcephaly (OFC -2.36 SD, 1st centile); developmental/motor regression (onset 36m); spasticity (progressive, ascending); spastic quadriparesis; dystonia; drooling, dysarthria; gait abnormalities; increased deep tendon reflexes; MRI brain normal" "" "" "" "" "" "" "" "NEDRSO" "neurodevelopmental disorder" "0000350768" "05611" "00465233" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth spontaneous vaginal delivery, weight 2,138 g (1st centile), length 45.5 cm (1st centile); abnormal body weight (<1st centile); short stature (<1st centile); 8.7y-microcephaly (OFC -3.4 SD, <1st centile); spasticity; no spastic quadriparesis; drooling, dysarthria; gait abnormalities; increased deep tendon reflexes; MRI brain normal" "" "" "" "" "" "" "" "NEDRSO" "neurodevelopmental disorder" "0000350769" "05611" "00465234" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth spontaneous vaginal delivery, weight 3,190 g (46th centile), length 51 cm (84th centile); abnormal body weight (1st centile); short stature (<1st centile); 7y-microcephaly (OFC -4.12 SD, <1st centile); developmental/motor regression (onset 6m); spasticity; no spastic quadriparesis; dystonia; drooling, dysarthria; non-ambulatory; increased deep tendon reflexes; MRI brain severe atrophy of cerebellum, striatum, cerebrum" "" "" "" "" "" "" "" "NEDRSO" "neurodevelopmental disorder" "0000350770" "05611" "00465235" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth spontaneous vaginal delivery, weight 2,980 g (11th centile), length 48 cm (10th centile); abnormal body weight (<1st centile); short stature (<1st centile); 12.5y-microcephaly (OFC -5 SD, <1st centile); developmental/motor regression (onset 16m); spasticity; spastic quadriparesis; no dystonia; drooling, dysarthria; gait abnormalities; increased deep tendon reflexes; MRI brain severe cerebellar atrophy, mild cerebral atrophy" "" "" "" "" "" "" "" "NEDRSO" "neurodevelopmental disorder" "0000350771" "05611" "00465236" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth spontaneous vaginal delivery, weight 2,790 g (7th centile), length 48 cm (16th centile); abnormal body weight (<1st centile); short stature (<1st centile); 11y-microcephaly (OFC -7 SD, <1st centile); developmental/motor regression (onset 18m); spasticity; spastic quadriparesis; no dystonia; drooling, dysarthria; gait abnormalities; increased deep tendon reflexes; MRI brain severe cerebellar atrophy" "" "" "" "" "" "" "" "NEDRSO" "neurodevelopmental disorder" "0000350772" "05611" "00465237" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth spontaneous vaginal delivery, weight 2,640 g (1st centile), length 47 cm (2nd centile); normal weight; short stature (<1st centile); 6.5y-microcephaly (OFC -5.5 SD, <1st centile); spasticity; no spastic quadriparesis; no dystonia; no oromotor dysfunction; gait abnormalities; increased deep tendon reflexes; MRI brain severe cerebellar atrophy" "" "" "" "" "" "" "" "NEDRSO" "neurodevelopmental disorder" "0000350773" "05611" "00465238" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth spontaneous vaginal delivery, weight 3,400 g (54th centile); abnormal body weight (75th-90th centile); short stature (10th centile); -; developmental/motor regression (onset 24-36m); spasticity; no spastic quadriparesis; dysarthria; gait abnormalities; normal deep tendon reflexes" "" "" "" "" "" "" "" "NEDRSO" "neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000466871" "00465221" "1" "01709" "01709" "2025-04-15 15:46:28" "" "" "SEQ-NG" "DNA" "blood" "" "0000466879" "00465229" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000466880" "00465230" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000466881" "00465231" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "SEQ-NG" "DNA" "" "" "0000466882" "00465232" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "SEQ-NG" "DNA" "" "" "0000466883" "00465233" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000466884" "00465234" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000466885" "00465235" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000466886" "00465236" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "SEQ-NG" "DNA" "" "" "0000466887" "00465237" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "SEQ-NG" "DNA" "" "" "0000466888" "00465238" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "SEQ-NG" "DNA" "" "" ## 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 = 67 "{{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}}" "0000266482" "0" "50" "9" "139265024" "139265026" "del" "0" "02325" "CARD9_000005" "g.139265024_139265026del" "" "" "" "CARD9(NM_052813.5):c.757_759delGAG (p.E253del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136370572_136370574del" "" "VUS" "" "0000269747" "0" "10" "9" "139266405" "139266405" "subst" "0.407381" "02326" "CARD9_000013" "g.139266405G>A" "" "" "" "CARD9(NM_052813.4):c.126C>T (p.P42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136371953G>A" "" "benign" "" "0000269748" "0" "30" "9" "139266396" "139266396" "subst" "0" "02326" "CARD9_000012" "g.139266396C>T" "" "" "" "CARD9(NM_052813.4):c.135G>A (p.E45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136371944C>T" "" "likely benign" "" "0000269749" "0" "10" "9" "139265870" "139265870" "subst" "0.0395356" "02326" "CARD9_000011" "g.139265870G>A" "" "" "" "CARD9(NM_052813.4):c.228C>T (p.Y76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136371418G>A" "" "benign" "" "0000269750" "0" "30" "9" "139265801" "139265801" "subst" "0.0327094" "02326" "CARD9_000010" "g.139265801C>T" "" "" "" "CARD9(NM_052813.4):c.297G>A (p.P99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136371349C>T" "" "likely benign" "" "0000269751" "0" "10" "9" "139266496" "139266496" "subst" "0.406628" "02326" "CARD9_000014" "g.139266496C>T" "" "" "" "CARD9(NM_052814.4):c.35G>A (p.S12N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136372044C>T" "" "benign" "" "0000269752" "0" "10" "9" "139265088" "139265088" "subst" "0.0383431" "02326" "CARD9_000006" "g.139265088C>T" "" "" "" "CARD9(NM_052813.4):c.693G>A (p.T231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136370636C>T" "" "benign" "" "0000272618" "0" "30" "9" "139266519" "139266519" "subst" "0.000539992" "01943" "CARD9_000015" "g.139266519G>A" "" "" "" "CARD9(NM_052813.4):c.12C>T (p.Y4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136372067G>A" "" "likely benign" "" "0000272620" "0" "50" "9" "139265430" "139265430" "subst" "0" "01943" "CARD9_000009" "g.139265430G>A" "" "" "" "CARD9(NM_052813.4):c.490C>T (p.L164F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136370978G>A" "" "VUS" "" "0000272621" "0" "50" "9" "139265407" "139265407" "subst" "0.000497196" "01943" "CARD9_000008" "g.139265407G>A" "" "" "" "CARD9(NM_052813.4):c.513C>T (p.G171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136370955G>A" "" "VUS" "" "0000272622" "0" "50" "9" "139265144" "139265144" "subst" "8.19028E-6" "01943" "CARD9_000007" "g.139265144G>A" "" "" "" "CARD9(NM_052813.4):c.637C>T (p.L213F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136370692G>A" "" "VUS" "" "0000272625" "0" "30" "9" "139266522" "139266522" "subst" "0" "01943" "CARD9_000016" "g.139266522G>T" "" "" "" "CARD9(NM_052813.4):c.9C>A (p.D3E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136372070G>T" "" "likely benign" "" "0000537157" "0" "50" "9" "139265334" "139265334" "subst" "4.15977E-5" "01943" "CARD9_000022" "g.139265334T>C" "" "" "" "CARD9(NM_052813.4):c.586A>G (p.K196E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136370882T>C" "" "VUS" "" "0000537158" "0" "30" "9" "139265810" "139265810" "subst" "0.00112198" "02326" "CARD9_000023" "g.139265810G>T" "" "" "" "CARD9(NM_052813.4):c.288C>A (p.G96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136371358G>T" "" "likely benign" "" "0000537159" "0" "30" "9" "139266519" "139266519" "subst" "0.000539992" "02326" "CARD9_000015" "g.139266519G>A" "" "" "" "CARD9(NM_052813.4):c.12C>T (p.Y4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136372067G>A" "" "likely benign" "" "0000537160" "0" "30" "9" "139272339" "139272339" "subst" "0.000632444" "01943" "CARD9_000024" "g.139272339G>A" "" "" "" "SNAPC4(NM_003086.3):c.3940C>T (p.L1314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136377887G>A" "" "likely benign" "" "0000537161" "0" "50" "9" "139273572" "139273572" "subst" "6.01815E-6" "01943" "SNAPC4_000001" "g.139273572G>A" "" "" "" "SNAPC4(NM_003086.3):c.2707C>T (p.Q903*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136379120G>A" "" "VUS" "" "0000537162" "0" "30" "9" "139276718" "139276718" "subst" "3.26637E-5" "01943" "SNAPC4_000002" "g.139276718C>T" "" "" "" "SNAPC4(NM_003086.3):c.2054G>A (p.R685Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136382266C>T" "" "likely benign" "" "0000537163" "0" "30" "9" "139277881" "139277881" "subst" "0.000421872" "01943" "SNAPC4_000003" "g.139277881G>A" "" "" "" "SNAPC4(NM_003086.3):c.1740C>T (p.S580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136383429G>A" "" "likely benign" "" "0000537164" "0" "30" "9" "139298645" "139298645" "subst" "1.66864E-5" "01943" "SDCCAG3_000003" "g.139298645G>A" "" "" "" "ENTR1(NM_001039707.2):c.1070C>T (p.A357V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136404193G>A" "" "likely benign" "" "0000611989" "0" "50" "9" "139265098" "139265098" "subst" "2.45032E-5" "01943" "CARD9_000026" "g.139265098C>T" "" "" "" "CARD9(NM_052813.4):c.683G>A (p.R228H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136370646C>T" "" "VUS" "" "0000656288" "0" "30" "9" "139265514" "139265514" "subst" "0.000430067" "02326" "CARD9_000028" "g.139265514G>A" "" "" "" "CARD9(NM_052813.4):c.406C>T (p.L136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136371062G>A" "" "likely benign" "" "0000678590" "0" "30" "9" "139265810" "139265810" "subst" "0.00112198" "01943" "CARD9_000023" "g.139265810G>T" "" "" "" "CARD9(NM_052813.4):c.288C>A (p.G96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690461" "0" "30" "9" "139265370" "139265370" "subst" "9.48501E-5" "01943" "CARD9_000029" "g.139265370C>T" "" "" "" "CARD9(NM_052813.4):c.550G>A (p.D184N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722385" "0" "10" "9" "139265407" "139265407" "subst" "0.000497196" "02326" "CARD9_000008" "g.139265407G>A" "" "" "" "CARD9(NM_052813.4):c.513C>T (p.G171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803979" "0" "50" "9" "139265142" "139265142" "subst" "0" "01943" "CARD9_000031" "g.139265142G>C" "" "" "" "CARD9(NM_052813.4):c.639C>G (p.L213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803980" "0" "50" "9" "139265143" "139265143" "subst" "0" "01943" "CARD9_000032" "g.139265143A>C" "" "" "" "CARD9(NM_052813.4):c.638T>G (p.L213R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861563" "0" "30" "9" "139265405" "139265405" "subst" "0.000237637" "01943" "CARD9_000036" "g.139265405C>T" "" "" "" "CARD9(NM_052813.4):c.515G>A (p.S172N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861564" "0" "30" "9" "139265830" "139265830" "subst" "0" "01943" "CARD9_000037" "g.139265830G>A" "" "" "" "CARD9(NM_052813.4):c.268C>T (p.L90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861565" "0" "30" "9" "139266507" "139266507" "subst" "0.000350995" "02326" "CARD9_000038" "g.139266507G>A" "" "" "" "CARD9(NM_052813.4):c.24C>T (p.D8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888728" "0" "30" "9" "139265590" "139265590" "subst" "1.64125E-5" "02326" "CARD9_000040" "g.139265590G>A" "" "" "" "CARD9(NM_052813.4):c.330C>T (p.S110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913122" "0" "30" "9" "139265409" "139265409" "subst" "0.000217611" "02326" "CARD9_000042" "g.139265409C>T" "" "" "" "CARD9(NM_052813.4):c.511G>A (p.G171S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929568" "0" "50" "9" "139265027" "139265027" "subst" "0" "02326" "CARD9_000046" "g.139265027G>A" "" "" "" "CARD9(NM_052813.4):c.754C>T (p.Q252*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965291" "0" "30" "9" "139278016" "139278021" "dup" "0" "02329" "SNAPC4_000004" "g.139278016_139278021dup" "" "" "" "SNAPC4(NM_003086.4):c.1621_1626dupAGCAGC (p.S541_S542dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978538" "0" "70" "9" "139275263" "139275263" "subst" "8.16353E-6" "02329" "SNAPC4_000023" "g.139275263G>A" "" "" "" "SNAPC4(NM_003086.4):c.2428C>T (p.R810*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978539" "0" "30" "9" "139286965" "139286966" "del" "2.43784E-5" "01804" "SNAPC4_000005" "g.139286965_139286966del" "" "" "" "SNAPC4(NM_003086.3):c.810+8_810+9del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978540" "0" "70" "9" "139287120" "139287120" "subst" "0" "02329" "SNAPC4_000015" "g.139287120C>A" "" "" "" "SNAPC4(NM_003086.4):c.737+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997654" "0" "30" "9" "139272495" "139272495" "subst" "8.64388E-5" "01804" "CARD9_000047" "g.139272495G>C" "" "" "" "SNAPC4(NM_003086.2):c.3784C>G (p.(Pro1262Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997655" "0" "50" "9" "139299638" "139299638" "subst" "0.000146213" "01804" "SDCCAG3_000005" "g.139299638G>A" "" "" "" "SDCCAG3(NM_001039707.1):c.910C>T (p.(Arg304Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025638" "0" "50" "9" "139265794" "139265794" "subst" "0" "02325" "CARD9_000048" "g.139265794C>T" "" "" "" "CARD9(NM_052813.5):c.304G>A (p.V102I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030857" "0" "70" "9" "139282213" "139282213" "subst" "0" "01709" "SNAPC4_000007" "g.139282213C>T" "" "" "" "" "" "Germline/De novo (untested)" "yes" "rs1439264804" "0" "" "" "g.136387761C>T" "" "likely pathogenic (recessive)" "ACMG" "0001030858" "0" "50" "9" "139282018" "139282018" "subst" "0" "01709" "SNAPC4_000006" "g.139282018G>A" "" "" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.136387566G>A" "" "VUS" "ACMG" "0001030894" "11" "90" "9" "139278469" "139278469" "subst" "8.14365E-6" "00006" "SNAPC4_000026" "g.139278469A>G" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136384017A>G" "" "pathogenic (recessive)" "" "0001030895" "11" "90" "9" "139288738" "139288738" "subst" "0" "00006" "SNAPC4_000014" "g.139288738C>T" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136394286C>T" "" "pathogenic (recessive)" "" "0001030896" "21" "90" "9" "139281941" "139281941" "subst" "0" "00006" "SNAPC4_000028" "g.139281941C>T" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136387489C>T" "" "pathogenic (recessive)" "" "0001030897" "21" "90" "9" "139281941" "139281941" "subst" "0" "00006" "SNAPC4_000028" "g.139281941C>T" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136387489C>T" "" "pathogenic (recessive)" "" "0001030898" "11" "90" "9" "139288780" "139288780" "subst" "0" "00006" "SNAPC4_000014" "g.139288780T>C" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136394328T>C" "" "pathogenic (recessive)" "" "0001030899" "11" "90" "9" "139275263" "139275263" "subst" "8.16353E-6" "00006" "SNAPC4_000023" "g.139275263G>A" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136380811G>A" "" "pathogenic (recessive)" "" "0001030900" "3" "90" "9" "139274288" "139274288" "subst" "4.09115E-6" "00006" "SNAPC4_000022" "g.139274288C>T" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136379836C>T" "" "pathogenic (recessive)" "" "0001030901" "3" "90" "9" "139274288" "139274288" "subst" "4.09115E-6" "00006" "SNAPC4_000022" "g.139274288C>T" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136379836C>T" "" "pathogenic (recessive)" "" "0001030902" "3" "90" "9" "139274288" "139274288" "subst" "4.09115E-6" "00006" "SNAPC4_000022" "g.139274288C>T" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136379836C>T" "" "pathogenic (recessive)" "" "0001030903" "11" "90" "9" "139277726" "139277736" "del" "0" "00006" "SNAPC4_000025" "g.139277726_139277736del" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136383274_136383284del" "" "pathogenic (recessive)" "" "0001030904" "21" "90" "9" "139289331" "139289332" "del" "8.15036E-5" "00006" "SNAPC4_000013" "g.139289331_139289332del" "" "{PMID:Frost 2023:36965478}" "" "472-1_472-2del" "" "Germline" "" "" "0" "" "" "g.136394879_136394880del" "" "pathogenic (recessive)" "" "0001030905" "21" "90" "9" "139281936" "139281936" "subst" "0" "00006" "SNAPC4_000027" "g.139281936C>A" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136387484C>A" "" "pathogenic (recessive)" "" "0001030906" "11" "90" "9" "139282267" "139282267" "subst" "1.21852E-5" "00006" "SNAPC4_000029" "g.139282267T>C" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136387815T>C" "" "pathogenic (recessive)" "" "0001030907" "11" "90" "9" "139282267" "139282267" "subst" "1.21852E-5" "00006" "SNAPC4_000029" "g.139282267T>C" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136387815T>C" "" "pathogenic (recessive)" "" "0001030908" "21" "90" "9" "139276275" "139276275" "subst" "0" "00006" "SNAPC4_000024" "g.139276275C>A" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136381823C>A" "" "pathogenic (recessive)" "" "0001030909" "21" "90" "9" "139287120" "139287120" "subst" "0" "00006" "SNAPC4_000015" "g.139287120C>A" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136392668C>A" "" "pathogenic (recessive)" "" "0001030910" "21" "90" "9" "139273379" "139273379" "subst" "0" "00006" "SNAPC4_000021" "g.139273379C>A" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136378927C>A" "" "pathogenic (recessive)" "" "0001037308" "0" "50" "9" "139273668" "139273668" "subst" "0.000409162" "01804" "SNAPC4_000008" "g.139273668C>G" "" "" "" "SNAPC4(NM_003086.3):c.2611G>C (p.(Val871Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037309" "0" "50" "9" "139278013" "139278021" "del" "0" "01804" "SNAPC4_000009" "g.139278013_139278021del" "" "" "" "SNAPC4(NM_003086.3):c.1618_1626del (p.(Ser540_Ser542del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037310" "0" "30" "9" "139286443" "139286443" "subst" "0.00196953" "01804" "SNAPC4_000010" "g.139286443G>A" "" "" "" "SNAPC4(NM_003086.3):c.926C>T (p.(Ala309Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037311" "0" "30" "9" "139286965" "139286965" "subst" "0.000731303" "01804" "SNAPC4_000011" "g.139286965C>T" "" "" "" "SNAPC4(NM_003086.3):c.810+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037312" "0" "30" "9" "139287053" "139287053" "subst" "0.000597134" "01804" "SNAPC4_000012" "g.139287053G>A" "" "" "" "SNAPC4(NM_003086.3):c.738-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037313" "0" "50" "9" "139292802" "139292802" "subst" "4.06081E-6" "01804" "SNAPC4_000016" "g.139292802C>T" "" "" "" "SNAPC4(NM_003086.3):c.79G>A (p.(Gly27Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001053424" "0" "50" "9" "139281967" "139281967" "subst" "0" "01804" "SNAPC4_000030" "g.139281967G>A" "" "" "" "SNAPC4(NM_003086.3):c.1295C>T (p.(Pro432Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053425" "0" "50" "9" "139287056" "139287056" "subst" "4.06223E-6" "01804" "SNAPC4_000031" "g.139287056G>A" "" "" "" "SNAPC4(NM_003086.3):c.738-10C>T" "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 SNAPC4 ## Count = 67 "{{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}}" "0000266482" "00019502" "50" "9646" "0" "9648" "0" "c.*5236_*5238del" "r.(=)" "p.(=)" "" "0000269747" "00019502" "10" "8265" "0" "8265" "0" "c.*3855C>T" "r.(=)" "p.(=)" "" "0000269748" "00019502" "30" "8274" "0" "8274" "0" "c.*3864G>A" "r.(=)" "p.(=)" "" "0000269749" "00019502" "10" "8800" "0" "8800" "0" "c.*4390C>T" "r.(=)" "p.(=)" "" "0000269750" "00019502" "30" "8869" "0" "8869" "0" "c.*4459G>A" "r.(=)" "p.(=)" "" "0000269751" "00019502" "10" "8174" "0" "8174" "0" "c.*3764G>A" "r.(=)" "p.(=)" "" "0000269752" "00019502" "10" "9582" "0" "9582" "0" "c.*5172G>A" "r.(=)" "p.(=)" "" "0000272618" "00019502" "30" "8151" "0" "8151" "0" "c.*3741C>T" "r.(=)" "p.(=)" "" "0000272620" "00019502" "50" "9240" "0" "9240" "0" "c.*4830C>T" "r.(=)" "p.(=)" "" "0000272621" "00019502" "50" "9263" "0" "9263" "0" "c.*4853C>T" "r.(=)" "p.(=)" "" "0000272622" "00019502" "50" "9526" "0" "9526" "0" "c.*5116C>T" "r.(=)" "p.(=)" "" "0000272625" "00019502" "30" "8148" "0" "8148" "0" "c.*3738C>A" "r.(=)" "p.(=)" "" "0000537157" "00019502" "50" "9336" "0" "9336" "0" "c.*4926A>G" "r.(=)" "p.(=)" "" "0000537158" "00019502" "30" "8860" "0" "8860" "0" "c.*4450C>A" "r.(=)" "p.(=)" "" "0000537159" "00019502" "30" "8151" "0" "8151" "0" "c.*3741C>T" "r.(=)" "p.(=)" "" "0000537160" "00019502" "30" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Leu1314=)" "" "0000537161" "00019502" "50" "2707" "0" "2707" "0" "c.2707C>T" "r.(?)" "p.(Gln903Ter)" "" "0000537162" "00019502" "30" "2054" "0" "2054" "0" "c.2054G>A" "r.(?)" "p.(Arg685Gln)" "" "0000537163" "00019502" "30" "1740" "0" "1740" "0" "c.1740C>T" "r.(?)" "p.(Ser580=)" "" "0000537164" "00019502" "30" "-5765" "0" "-5765" "0" "c.-5765C>T" "r.(?)" "p.(=)" "" "0000611989" "00019502" "50" "9572" "0" "9572" "0" "c.*5162G>A" "r.(=)" "p.(=)" "" "0000656288" "00019502" "30" "9156" "0" "9156" "0" "c.*4746C>T" "r.(=)" "p.(=)" "" "0000678590" "00019502" "30" "8860" "0" "8860" "0" "c.*4450C>A" "r.(=)" "p.(=)" "" "0000690461" "00019502" "30" "9300" "0" "9300" "0" "c.*4890G>A" "r.(=)" "p.(=)" "" "0000722385" "00019502" "10" "9263" "0" "9263" "0" "c.*4853C>T" "r.(=)" "p.(=)" "" "0000803979" "00019502" "50" "9528" "0" "9528" "0" "c.*5118C>G" "r.(=)" "p.(=)" "" "0000803980" "00019502" "50" "9527" "0" "9527" "0" "c.*5117T>G" "r.(=)" "p.(=)" "" "0000861563" "00019502" "30" "9265" "0" "9265" "0" "c.*4855G>A" "r.(=)" "p.(=)" "" "0000861564" "00019502" "30" "8840" "0" "8840" "0" "c.*4430C>T" "r.(=)" "p.(=)" "" "0000861565" "00019502" "30" "8163" "0" "8163" "0" "c.*3753C>T" "r.(=)" "p.(=)" "" "0000888728" "00019502" "30" "9080" "0" "9080" "0" "c.*4670C>T" "r.(=)" "p.(=)" "" "0000913122" "00019502" "30" "9261" "0" "9261" "0" "c.*4851G>A" "r.(=)" "p.(=)" "" "0000929568" "00019502" "50" "9643" "0" "9643" "0" "c.*5233C>T" "r.(=)" "p.(=)" "" "0000965291" "00019502" "30" "1621" "0" "1626" "0" "c.1621_1626dup" "r.(?)" "p.(Ser541_Ser542dup)" "" "0000978538" "00019502" "70" "2428" "0" "2428" "0" "c.2428C>T" "r.(?)" "p.(Arg810*)" "" "0000978539" "00019502" "30" "810" "8" "810" "9" "c.810+8_810+9del" "r.(=)" "p.(=)" "" "0000978540" "00019502" "70" "737" "5" "737" "5" "c.737+5G>T" "r.spl?" "p.?" "" "0000997654" "00019502" "30" "3784" "0" "3784" "0" "c.3784C>G" "r.(?)" "p.(Pro1262Ala)" "" "0000997655" "00019502" "50" "-6758" "0" "-6758" "0" "c.-6758C>T" "r.(?)" "p.(=)" "" "0001025638" "00019502" "50" "8876" "0" "8876" "0" "c.*4466G>A" "r.(=)" "p.(=)" "" "0001030857" "00019502" "70" "1211" "0" "1211" "0" "c.1211G>A" "r.(?)" "p.(Trp404*)" "12" "0001030858" "00019502" "50" "1244" "0" "1244" "0" "c.1244C>T" "r.(?)" "p.(Ala415Val)" "12" "0001030894" "00019502" "90" "1436" "0" "1436" "0" "c.1436T>C" "r.(?)" "p.(Ile479Thr)" "" "0001030895" "00019502" "90" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Asp199Asn)" "" "0001030896" "00019502" "90" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Asp441Asn)" "" "0001030897" "00019502" "90" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Asp441Asn)" "" "0001030898" "00019502" "90" "553" "0" "553" "0" "c.553A>G" "r.(?)" "p.(Lys185Glu)" "" "0001030899" "00019502" "90" "2428" "0" "2428" "0" "c.2428C>T" "r.(?)" "p.(Arg810Ter)" "" "0001030900" "00019502" "90" "2527" "1" "2527" "1" "c.2527+1G>A" "r.2500_2527del" "p.Ser835ThrfsTer85" "" "0001030901" "00019502" "90" "2527" "1" "2527" "1" "c.2527+1G>A" "r.(2500_2527del)" "p.(Ser835ThrfsTer85)" "" "0001030902" "00019502" "90" "2527" "1" "2527" "1" "c.2527+1G>A" "r.(2500_2527del)" "p.(Ser835ThrfsTer85)" "" "0001030903" "00019502" "90" "1889" "0" "1899" "0" "c.1889_1899del" "r.(?)" "p.(Val630GlyfsTer76" "" "0001030904" "00019502" "90" "472" "-2" "472" "-1" "c.472-2_472-1del" "r.471_472ins[c.471+1_472-3]" "p.Gly158ValfsTer65" "" "0001030905" "00019502" "90" "1325" "1" "1325" "1" "c.1325+1G>T" "r.1298_1325del" "p.Arg434GlyfsTer10" "" "0001030906" "00019502" "90" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Gln386Arg)" "" "0001030907" "00019502" "90" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Gln386Arg)" "" "0001030908" "00019502" "90" "2317" "1" "2317" "1" "c.2317+1G>T" "r.2254_2317del" "p.Val752ArgfsTer155" "" "0001030909" "00019502" "90" "737" "5" "737" "5" "c.737+5G>T" "r.737_738ins[GTGAT;737+6_738-1]" "p.Asn245LysfsTer2" "" "0001030910" "00019502" "90" "2900" "0" "2900" "0" "c.2900G>T" "r.(?)" "p.(Gly967Val)" "" "0001037308" "00019502" "50" "2611" "0" "2611" "0" "c.2611G>C" "r.(?)" "p.(Val871Leu)" "" "0001037309" "00019502" "50" "1618" "0" "1626" "0" "c.1618_1626del" "r.(?)" "p.(Ser540_Ser542del)" "" "0001037310" "00019502" "30" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Ala309Val)" "" "0001037311" "00019502" "30" "810" "9" "810" "9" "c.810+9G>A" "r.(=)" "p.(=)" "" "0001037312" "00019502" "30" "738" "-7" "738" "-7" "c.738-7C>T" "r.(=)" "p.(=)" "" "0001037313" "00019502" "50" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Ser)" "" "0001053424" "00019502" "50" "1295" "0" "1295" "0" "c.1295C>T" "r.(?)" "p.(Pro432Leu)" "" "0001053425" "00019502" "50" "738" "-10" "738" "-10" "c.738-10C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000466871" "0001030857" "0000466871" "0001030858" "0000466879" "0001030894" "0000466879" "0001030904" "0000466880" "0001030895" "0000466880" "0001030905" "0000466881" "0001030896" "0000466881" "0001030906" "0000466882" "0001030897" "0000466882" "0001030907" "0000466883" "0001030898" "0000466883" "0001030908" "0000466884" "0001030899" "0000466884" "0001030909" "0000466885" "0001030900" "0000466886" "0001030901" "0000466887" "0001030902" "0000466888" "0001030903" "0000466888" "0001030910"