### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCAF4) # 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}}" "SCAF4" "SR-related CTD-associated factor 4" "21" "q22.1" "unknown" "NG_047173.1" "UD_132438848087" "" "https://www.LOVD.nl/SCAF4" "" "1" "19304" "57466" "616023" "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/SCAF4_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2020-06-09 19:06:45" "00006" "2025-11-11 11:29:00" ## 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}}" "00025524" "SCAF4" "transcript variant 1" "001" "NM_020706.2" "" "NP_065757.1" "" "" "" "-426" "3843" "3444" "33104431" "33043313" "00006" "2020-06-09 17:43:04" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SCAF4" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00303296" "" "" "" "1" "" "00006" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Pat1" "00303297" "" "" "" "1" "" "00006" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00303298" "" "" "" "1" "" "00006" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat3" "00303299" "" "" "" "1" "" "00006" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat4" "00303300" "" "" "" "1" "" "00006" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Pat5" "00303301" "" "" "" "1" "" "00006" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" "00303302" "" "" "" "1" "" "00006" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat7" "00303303" "" "" "" "1" "" "00006" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "Pat8" "00303304" "" "" "" "1" "" "00006" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Pat9" "00303305" "" "" "" "1" "" "00006" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "2-generation family, 2 affected sisters" "M" "" "" "" "0" "" "" "" "Pat10" "00303306" "" "" "" "1" "" "00006" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat11" "00320147" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00449555" "" "" "" "1" "" "03544" "" "" "F" "no" "" "" "" "" "" "white" "" "00467614" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00303296" "05611" "00303297" "05611" "00303298" "05611" "00303299" "05611" "00303300" "05611" "00303301" "05611" "00303302" "05611" "00303303" "05611" "00303304" "05611" "00303305" "05611" "00303306" "05611" "00320147" "00198" "00449555" "00138" "00467614" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00198, 01157, 05611 ## Count = 15 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000230372" "05611" "00303296" "00006" "Isolated (sporadic)" "3y3m" "height 101 cm (SD 0.66), weight 17.2kg (SD 1.04), OFC 49.2 cm (SD −0.38); mild-moderate mild developmental delay/intellectual disability (SON-IQ 1x67, 1x50); 14m-walk; 12m-first words, 3y3m-speech 30 words; regression stagnation with seizures; 27m-30m-seizures 4x; MRI subcortical periventricular hypomyelination; muscular hypotonia; autistic features; no urogenital anomalies; no gastro-intestinal anomalies; no skeletal anomalies" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000230373" "05611" "00303297" "00006" "Isolated (sporadic)" "20m" "height 84.5 cm (SD −0.28), weight 12.5kg (SD +0.10), OFC 47.5 cm (SD −0.8); mild developmental delay/intellectual disability; 17m-walk; 18m-first words; no regression; no seizures; muscular hypotonia; murmur,ultrasound normal; no urogenital anomalies; no gastro-intestinal anomalies; no skeletal anomalies" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000230374" "05611" "00303298" "00006" "Isolated (sporadic)" "16y" "height 162.6 cm (SD −1.6), weight 67.5kg (SD 0.40); mild developmental delay/intellectual disability; 14m-walk; 2.5y-first words, 3y-speech therapy; no regression; no seizures; ultrasound brain normal; no muscular hypotonia; autistic features in infancy; ventricle septum defect, bicuspid aortic valve, hypoplastic aortic arch, dilated cardiomyopathy; unilateral agenesis; cryptorchidism; tracheesophageal fistula, imperforate anus; sacrum segmentation anomaly, brachydactyly; tethered cord, hypothyroidism" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000230375" "05611" "00303299" "00006" "Isolated (sporadic)" "18y" "height 165.5 cm (SD −1.51), weight 56.9kg (SD −1.25), OFC 59 cm (SD 1.42); severemild developmental delay/intellectual disability; 4y-5y-walk; 5y-first words, speech 10 words; 10m-intractable seizures (myoclonic/tonic); MRI possible focal cortical dysplasia, volume loss; muscular hypotonia; autism, aggression, hyperactivity; multicystic kidneys; cryptorchidism; s/p pyloroplasty, nissen fundoplication, G-tube; kyphosis, scoliosis; sleep apnea, chronic lung disease, bronchopulmonary dysplasia, Sotos syndrome" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000230376" "05611" "00303300" "00006" "Isolated (sporadic)" "13y" "height 157.5 cm (SD −0.41), weight 44.4kg (SD −0.61), OFC 51.8 cm (SD −1.9); mild developmental delay/intellectual disability; 14m-walk; 14m-first words, >2y-speech 2-word combinations; possible regression in speech; 12y-myoclonus seizures; MRI normal; no muscular hypotonia; autism; ventricle septum defect (self-resolved); unilateral hydronephrosis; no urogenital anomalies; no gastro-intestinal anomalies; lordosis, hallux valgus, toe syndactyly II/III; premature adrenarche" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000230377" "05611" "00303301" "00006" "Isolated (sporadic)" "6y6m" "height 126.5 cm (SD 1), weight 24.9kg (SD 0), OFC 52.8 cm (SD 0); mild developmental delay/intellectual disability (tIQ 91 WISC-V); 12m-walk; 16m-first words, speech delay; no regression; no seizures; autism, hyperactivity, aggression; no renal anomalies; no urogenital anomalies; no gastro-intestinal anomalies; kyphosis" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000230378" "05611" "00303302" "00006" "Isolated (sporadic)" "6y5m" "height 114 cm (SD −0.22 (5y)), weight 5y-26kg (SD 1.56); language delay; 18m-walk; 3y-first words; no regression; 4y-myoclonic astatic epilepsy; MRI nonspecific FLAIR hyperintensities frontal subcortical area left > right; no behavioral anomalies" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000230379" "05611" "00303303" "00006" "Unknown" "11y" "height 136 cm (SD −1.69), weight 38.2kg (SD −0.14), OFC 55 cm (SD 0.54); learning difficulties; 14m-15m-walk; 2y-3y-first words, 11y-speech 20 words; no regression; 18m-intractable seizures; MRI white matter changes, cerebellar atrophy; muscular hypertonia; self-injurous, aggression; bilateral ankle rotation, pectus excavatum; delayed teeth eruption" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000230380" "05611" "00303304" "00006" "Isolated (sporadic)" "4y6m" "height 125 cm (SD −1.24 (8.5y)), weight 21kg (SD 1.19), OFC 49.2 cm (SD −0.92); mild-moderate developmental delay/intellectual disability (DQ 56); 29m-walk; 3.7y-first words, speech simple sentences; 10-12m-regression; no seizures; MRI pontocerebellar hypoplasia, hypoplasia corpus callosum; muscular hypotonia; aggression; ventricle septum defect (self-resolved), persistent foramen ovale; multicystic kidneys; inguinal hernia; no gastro-intestinal anomalies; antevertion femur" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000230381" "05611" "00303305" "00006" "Unknown" "4y" "moderate developmental delay/intellectual disability; 4y-no speech; autism, hyperactivity" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000230382" "05611" "00303306" "00006" "Isolated (sporadic)" "10y" "height 142 cm (SD −0.25), weight 62.7kg (SD 2.39), OFC 57.6 cm (SD 2.77); developmental delay/intellectual disability; 15m-walk; 3y-4y-first words; possible regression; 2y-seizures; hypoplasia corpus callosum; muscular hypotonia; disruptive behavior, autism; scoliosis, pronation feet" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000242193" "00198" "00320147" "01807" "Unknown" "" "Microcephaly (HP:0000252); Myopia (HP:0000545); Aggressive behavior (HP:0000718); Intellectual disability (HP:0001249); Seizure (HP:0001250); Short stature (HP:0004322)" "" "" "" "" "" "" "" "" "" "" "" "0000338729" "00138" "00449555" "03544" "Isolated (sporadic)" "12y" "HP:0000718, HP:0000736, HP:0000750, HP:0001374, HP:0001520, HP:0002370, HP:0006889, HP:0011229, HP:0030043" "" "" "" "" "" "" "" "" "FZS" "autism" "" "0000352825" "05611" "00467614" "03544" "Isolated (sporadic)" "" "HP:0000164, HP:0000286, HP:0000343, HP:0000369, HP:0000431, HP:0000463, HP:0000486, HP:0000708, HP:0000718, HP:0001256, HP:0002553, HP:0007018, HP:0009748" "" "" "" "" "" "" "" "" "FZS" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000304421" "00303296" "1" "00006" "00006" "2020-06-09 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304422" "00303297" "1" "00006" "00006" "2020-06-09 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304423" "00303298" "1" "00006" "00006" "2020-06-09 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304424" "00303299" "1" "00006" "00006" "2020-06-09 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304425" "00303300" "1" "00006" "00006" "2020-06-09 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304426" "00303301" "1" "00006" "00006" "2020-06-09 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304427" "00303302" "1" "00006" "00006" "2020-06-09 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304428" "00303303" "1" "00006" "00006" "2020-06-09 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304429" "00303304" "1" "00006" "00006" "2020-06-09 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304430" "00303305" "1" "00006" "00006" "2020-06-09 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304431" "00303306" "1" "00006" "00006" "2020-06-09 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000321332" "00320147" "1" "01807" "01807" "2020-11-23 17:38:03" "" "" "SEQ" "DNA" "" "" "0000451145" "00449555" "1" "03544" "03544" "2024-04-22 13:34:31" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000469279" "00467614" "1" "03544" "03544" "2025-10-24 11:10:59" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000304421" "SCAF4" "0000304422" "SCAF4" "0000304423" "SCAF4" "0000304424" "SCAF4" "0000304425" "SCAF4" "0000304426" "SCAF4" "0000304427" "SCAF4" "0000304428" "SCAF4" "0000304429" "SCAF4" "0000304430" "SCAF4" "0000304431" "SCAF4" ## 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 = 73 "{{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}}" "0000006001" "3" "50" "21" "33078925" "33078925" "subst" "0" "00037" "SCAF4_000003" "g.33078925G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.31706612G>A" "" "VUS" "" "0000006002" "0" "50" "21" "33079466" "33079466" "subst" "0" "00037" "SCAF4_000002" "g.33079466T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.31707153T>C" "" "VUS" "" "0000006003" "0" "50" "21" "33079625" "33079625" "subst" "0" "00037" "SCAF4_000001" "g.33079625C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.31707312C>G" "" "VUS" "" "0000252681" "0" "50" "21" "33039629" "33039629" "subst" "8.1215E-6" "02326" "SOD1_000016" "g.33039629A>G" "" "" "" "SOD1(NM_000454.4):c.298A>G (p.I100V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31667316A>G" "" "VUS" "" "0000307724" "0" "70" "21" "33064661" "33064661" "subst" "0" "01943" "SCAF4_000004" "g.33064661C>G" "" "" "" "SCAF4(NM_020706.2):c.1614+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31692348C>G" "" "likely pathogenic" "" "0000570491" "0" "30" "21" "33038745" "33038745" "subst" "0" "02329" "SCAF4_000005" "g.33038745C>T" "" "" "" "SOD1(NM_000454.5):c.170-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31666432C>T" "" "likely benign" "" "0000570492" "0" "30" "21" "33038748" "33038748" "subst" "0" "02329" "SCAF4_000006" "g.33038748C>T" "" "" "" "SOD1(NM_000454.5):c.170-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31666435C>T" "" "likely benign" "" "0000570493" "0" "30" "21" "33038751" "33038751" "subst" "5.34425E-5" "02329" "SCAF4_000007" "g.33038751C>T" "" "" "" "SOD1(NM_000454.5):c.170-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31666438C>T" "" "likely benign" "" "0000570494" "0" "70" "21" "33039600" "33039600" "subst" "1.21822E-5" "02327" "SCAF4_000008" "g.33039600C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31667287C>T" "" "likely pathogenic" "" "0000570497" "0" "30" "21" "33040834" "33040834" "subst" "0" "02329" "SCAF4_000009" "g.33040834A>G" "" "" "" "SOD1(NM_000454.5):c.408A>G (p.T136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31668521A>G" "" "likely benign" "" "0000570498" "0" "30" "21" "33040849" "33040849" "subst" "0.000426746" "02326" "SCAF4_000010" "g.33040849T>A" "" "" "" "SOD1(NM_000454.4):c.423T>A (p.A141=), SOD1(NM_000454.5):c.423T>A (p.A141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31668536T>A" "" "likely benign" "" "0000570499" "0" "30" "21" "33044363" "33044363" "subst" "0" "01943" "SCAF4_000011" "g.33044363T>C" "" "" "" "SCAF4(NM_020706.2):c.2793A>G (p.P931=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31672050T>C" "" "likely benign" "" "0000570500" "0" "30" "21" "33044594" "33044594" "subst" "4.15148E-5" "01943" "SCAF4_000012" "g.33044594G>A" "" "" "" "SCAF4(NM_020706.2):c.2562C>T (p.P854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31672281G>A" "" "likely benign" "" "0000570501" "0" "50" "21" "33060658" "33060658" "subst" "0" "01943" "SCAF4_000013" "g.33060658T>C" "" "" "" "SCAF4(NM_020706.2):c.2005A>G (p.I669V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31688345T>C" "" "VUS" "" "0000618318" "0" "30" "21" "33038808" "33038808" "subst" "5.2907E-5" "02329" "SCAF4_000014" "g.33038808C>T" "" "" "" "SOD1(NM_000454.5):c.216C>T (p.H72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31666495C>T" "" "likely benign" "" "0000618319" "0" "30" "21" "33040849" "33040849" "subst" "0.000426746" "01943" "SCAF4_000010" "g.33040849T>A" "" "" "" "SOD1(NM_000454.4):c.423T>A (p.A141=), SOD1(NM_000454.5):c.423T>A (p.A141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31668536T>A" "" "likely benign" "" "0000618320" "0" "30" "21" "33040849" "33040849" "subst" "0.000426746" "02329" "SCAF4_000010" "g.33040849T>A" "" "" "" "SOD1(NM_000454.4):c.423T>A (p.A141=), SOD1(NM_000454.5):c.423T>A (p.A141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31668536T>A" "" "likely benign" "" "0000618321" "0" "30" "21" "33043762" "33043762" "subst" "1.6245E-5" "01943" "SCAF4_000015" "g.33043762A>T" "" "" "" "SCAF4(NM_020706.2):c.3394T>A (p.S1132T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31671449A>T" "" "likely benign" "" "0000618322" "0" "30" "21" "33044360" "33044360" "subst" "1.64387E-5" "01943" "SCAF4_000016" "g.33044360C>A" "" "" "" "SCAF4(NM_020706.2):c.2796G>T (p.G932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31672047C>A" "" "likely benign" "" "0000624200" "0" "30" "21" "33044670" "33044670" "subst" "9.32709E-5" "01943" "SCAF4_000017" "g.33044670A>G" "" "" "" "SCAF4(NM_020706.2):c.2489-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31672357A>G" "" "likely benign" "" "0000658815" "0" "30" "21" "33038742" "33038742" "subst" "0.00180952" "02329" "SCAF4_000018" "g.33038742T>C" "" "" "" "SOD1(NM_000454.5):c.170-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31666429T>C" "" "likely benign" "" "0000658816" "0" "50" "21" "33074560" "33074563" "del" "0" "02329" "SCAF4_000019" "g.33074560_33074563del" "" "" "" "SCAF4(NM_020706.2):c.453_456delTGAA (p.N151Kfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31702247_31702250del" "" "VUS" "" "0000667864" "0" "90" "21" "33076077" "33076077" "subst" "0" "00006" "SCAF4_000027" "g.33076077C>A" "" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "" "" "Fig.S2 alignment erroneous" "De novo" "" "" "0" "" "" "g.31703764C>A" "" "likely pathogenic (dominant)" "" "0000667865" "0" "90" "21" "33074558" "33074561" "del" "0" "00006" "SCAF4_000019" "g.33074558_33074561del" "" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "" "453_456delTGAA" "" "De novo" "" "" "0" "" "" "g.31702245_31702248del" "" "likely pathogenic (dominant)" "" "0000667866" "0" "90" "21" "33068467" "33068467" "del" "0" "00006" "SCAF4_000012" "g.33068467del" "" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "" "1028delC" "" "De novo" "" "" "0" "" "" "g.31696154del" "" "likely pathogenic (dominant)" "" "0000667867" "0" "90" "21" "33066538" "33066538" "subst" "0" "00006" "SCAF4_000020" "g.33066538G>T" "" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "" "" "" "De novo" "" "" "0" "" "" "g.31694225G>T" "" "likely pathogenic (dominant)" "" "0000667868" "0" "90" "21" "33065697" "33065697" "subst" "0" "00006" "SCAF4_000021" "g.33065697G>A" "" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "" "p.(Arg475*)" "" "De novo" "" "" "0" "" "" "g.31693384G>A" "" "likely pathogenic (dominant)" "" "0000667869" "0" "70" "21" "33064661" "33064661" "subst" "0" "00006" "SCAF4_000004" "g.33064661C>G" "" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "" "" "" "De novo" "" "" "0" "" "" "g.31692348C>G" "" "likely pathogenic (dominant)" "" "0000667870" "0" "90" "21" "33064209" "33064209" "dup" "0" "00006" "SCAF4_000022" "g.33064209dup" "" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "" "1649dupT" "" "De novo" "" "" "0" "" "" "g.31691896dup" "" "likely pathogenic (dominant)" "" "0000667871" "21" "90" "21" "33063183" "33063183" "subst" "0" "00006" "SCAF4_000023" "g.33063183C>T" "" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "" "" "inherited from unaffected mother" "Germline" "" "" "0" "" "" "g.31690870C>T" "" "VUS (!)" "" "0000667872" "0" "90" "21" "33060774" "33060774" "subst" "0" "00006" "SCAF4_000024" "g.33060774C>T" "" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "" "" "" "De novo" "" "" "0" "" "" "g.31688461C>T" "" "likely pathogenic (dominant)" "" "0000667873" "0" "70" "21" "33043959" "33043960" "del" "0" "00006" "SCAF4_000025" "g.33043959_33043960del" "" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "" "3200_3201delAG" "" "De novo" "" "" "0" "" "" "g.31671646_31671647del" "" "likely pathogenic (dominant)" "" "0000667874" "0" "70" "21" "33069058" "33069058" "subst" "0" "00006" "SCAF4_000026" "g.33069058C>A" "" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "" "" "" "De novo" "" "" "0" "" "" "g.31696745C>A" "" "likely pathogenic (dominant)" "" "0000681704" "0" "30" "21" "33068473" "33068473" "subst" "0.00250638" "01943" "SCAF4_000028" "g.33068473A>G" "" "" "" "SCAF4(NM_020706.2):c.1021T>C (p.F341L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681705" "0" "30" "21" "33068965" "33068965" "subst" "0.00216463" "01943" "SCAF4_000029" "g.33068965G>A" "" "" "" "SCAF4(NM_020706.2):c.876C>T (p.A292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000704161" "0" "70" "21" "33057475" "33057475" "del" "0" "01807" "SCAF4_000030" "g.33057475del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.31685162del" "" "likely pathogenic" "" "0000727875" "0" "50" "21" "33065665" "33065666" "del" "0" "01943" "SCAF4_000031" "g.33065665_33065666del" "" "" "" "SCAF4(NM_020706.2):c.1457_1458delAA (p.K486Rfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809356" "0" "50" "21" "33073317" "33073317" "del" "0" "02327" "SCAF4_000032" "g.33073317del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866611" "0" "50" "21" "33074607" "33074607" "subst" "4.06276E-6" "01943" "SCAF4_000033" "g.33074607G>A" "" "" "" "SCAF4(NM_020706.2):c.407C>T (p.A136V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895450" "0" "50" "21" "33043762" "33043762" "subst" "1.6245E-5" "02325" "SCAF4_000015" "g.33043762A>T" "" "" "" "SCAF4(NM_020706.2):c.3394T>A (p.S1132T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895451" "0" "50" "21" "33043786" "33043787" "del" "0" "02325" "SOD1_000028" "g.33043786_33043787del" "" "" "" "SCAF4(NM_020706.2):c.3371_3372delAG (p.E1124Vfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915441" "0" "30" "21" "33044277" "33044279" "del" "0" "02325" "SOD1_000029" "g.33044277_33044279del" "" "" "" "SCAF4(NM_020706.2):c.2877_2879delACA (p.Q966del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915442" "0" "50" "21" "33057720" "33057720" "subst" "0.00176559" "02325" "SCAF4_000034" "g.33057720T>G" "" "" "" "SCAF4(NM_020706.2):c.2287A>C (p.I763L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915443" "0" "50" "21" "33067215" "33067215" "subst" "0" "02325" "SCAF4_000035" "g.33067215C>T" "" "" "" "SCAF4(NM_020706.2):c.1147G>A (p.V383M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931212" "0" "70" "21" "33065670" "33065670" "subst" "0" "02327" "SCAF4_000036" "g.33065670G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951492" "0" "50" "21" "33038826" "33038828" "del" "0" "02326" "SOD1_000030" "g.33038826_33038828del" "" "" "" "SOD1(NM_000454.4):c.234_236delAGA (p.E79del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951493" "0" "90" "21" "33040860" "33040860" "subst" "0" "02326" "SOD1_000031" "g.33040860T>C" "" "" "" "SOD1(NM_000454.4):c.434T>C (p.L145S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951494" "0" "50" "21" "33044405" "33044405" "subst" "0" "02325" "SOD1_000032" "g.33044405C>A" "" "" "" "SCAF4(NM_020706.2):c.2751G>T (p.R917S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951495" "0" "70" "21" "33065649" "33065649" "subst" "0" "02327" "SCAF4_000037" "g.33065649G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000970276" "0" "50" "21" "33066575" "33066575" "subst" "1.22673E-5" "02325" "SCAF4_000038" "g.33066575G>C" "" "" "" "SCAF4(NM_020706.2):c.1264C>G (p.Q422E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983956" "0" "90" "21" "33039672" "33039672" "subst" "4.87302E-5" "01804" "SOD1_000033" "g.33039672T>C" "" "" "" "SOD1(NM_000454.5):c.341T>C (p.(Ile114Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983957" "0" "50" "21" "33068904" "33068904" "subst" "0" "01804" "SCAF4_000039" "g.33068904G>A" "" "" "" "SCAF4(NM_020706.2):c.937C>T (p.(Pro313Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984923" "0" "70" "21" "33065661" "33065664" "del" "0" "03544" "SCAF4_000040" "g.33065661_33065664del" "" "" "" "" "de novo in patient, not in gnomAD database (v4.0.0)" "De novo" "-" "" "0" "" "" "g.31693348_31693351del" "{CV:3363102}" "pathogenic (dominant)" "ACMG" "0001005648" "0" "70" "21" "33040869" "33040869" "subst" "0" "02326" "SOD1_000034" "g.33040869G>C" "" "" "" "SOD1(NM_000454.4):c.443G>C (p.G148A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001005649" "0" "30" "21" "33043939" "33043939" "subst" "0" "01804" "SOD1_000035" "g.33043939C>T" "" "" "" "SCAF4(NM_020706.2):c.3217G>A (p.(Glu1073Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005650" "0" "50" "21" "33044270" "33044278" "del" "0" "02325" "SOD1_000036" "g.33044270_33044278del" "" "" "" "SCAF4(NM_020706.2):c.2891_2899delAGCAGCAGC (p.Q964_Q966del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005651" "0" "50" "21" "33044424" "33044424" "subst" "3.25648E-5" "01804" "SOD1_000037" "g.33044424G>A" "" "" "" "SCAF4(NM_020706.2):c.2732C>T (p.(Pro911Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005652" "0" "50" "21" "33044508" "33044508" "subst" "0" "01804" "SOD1_000038" "g.33044508G>A" "" "" "" "SCAF4(NM_020706.2):c.2648C>T (p.(Pro883Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005653" "0" "50" "21" "33057974" "33057974" "subst" "4.08077E-6" "01804" "SCAF4_000041" "g.33057974T>C" "" "" "" "SCAF4(NM_020706.2):c.2116A>G (p.(Ile706Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005654" "0" "30" "21" "33065738" "33065738" "subst" "2.94541E-5" "02325" "SCAF4_000042" "g.33065738C>T" "" "" "" "SCAF4(NM_020706.2):c.1382G>A (p.R461H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005655" "0" "50" "21" "33066562" "33066562" "subst" "8.16313E-6" "01804" "SCAF4_000043" "g.33066562C>T" "" "" "" "SCAF4(NM_020706.2):c.1277G>A (p.(Arg426Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005656" "0" "30" "21" "33067203" "33067203" "subst" "8.12222E-6" "01804" "SCAF4_000044" "g.33067203T>C" "" "" "" "SCAF4(NM_020706.2):c.1159A>G (p.(Thr387Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005657" "0" "30" "21" "33068436" "33068436" "subst" "2.03315E-5" "01804" "SCAF4_000045" "g.33068436A>G" "" "" "" "SCAF4(NM_020706.2):c.1058T>C (p.(Met353Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005658" "0" "30" "21" "33068973" "33068973" "subst" "0" "01804" "SCAF4_000046" "g.33068973G>T" "" "" "" "SCAF4(NM_020706.2):c.868C>A (p.(Pro290Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005659" "0" "70" "21" "33076224" "33076224" "subst" "0" "01804" "SCAF4_000047" "g.33076224T>A" "" "" "" "SCAF4(NM_020706.2):c.175A>T (p.(Lys59*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001043554" "0" "30" "21" "33057803" "33057803" "del" "0" "01804" "SCAF4_000048" "g.33057803del" "" "" "" "SCAF4(NM_020706.2):c.2210-5del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043555" "0" "30" "21" "33060689" "33060689" "subst" "1.62433E-5" "01804" "SCAF4_000049" "g.33060689T>C" "" "" "" "SCAF4(NM_020706.2):c.1974A>G (p.(Ile658Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043556" "0" "30" "21" "33060747" "33060747" "subst" "3.6561E-5" "01804" "SCAF4_000050" "g.33060747T>C" "" "" "" "SCAF4(NM_020706.2):c.1916A>G (p.(Asn639Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046794" "0" "30" "21" "33057999" "33057999" "subst" "3.71753E-5" "02326" "SCAF4_000051" "g.33057999C>T" "" "" "" "SCAF4(NM_020706.2):c.2091G>A (p.P697=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049541" "0" "70" "21" "33064691" "33064691" "subst" "0" "03544" "SCAF4_000052" "g.33064691C>A" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.31692378C>A" "{CV:4526889}" "likely pathogenic" "ACMG" "0001056988" "0" "50" "21" "33043929" "33043929" "subst" "8.12618E-6" "01804" "SOD1_000039" "g.33043929C>T" "" "" "" "SCAF4(NM_020706.2):c.3227G>A (p.(Arg1076Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056989" "0" "30" "21" "33044073" "33044073" "subst" "6.09127E-5" "01804" "SOD1_000040" "g.33044073C>T" "" "" "" "SCAF4(NM_020706.2):c.3083G>A (p.(Arg1028His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056990" "0" "70" "21" "33066526" "33066526" "dup" "0" "02327" "SCAF4_000053" "g.33066526dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SCAF4 ## Count = 73 "{{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}}" "0000006001" "00025524" "50" "31" "-255" "31" "-255" "c.31-255C>T" "r.(=)" "p.(=)" "" "0000006002" "00025524" "50" "31" "-796" "31" "-796" "c.31-796A>G" "r.(=)" "p.(=)" "" "0000006003" "00025524" "50" "31" "-955" "31" "-955" "c.31-955G>C" "r.(=)" "p.(=)" "" "0000252681" "00025524" "50" "7527" "0" "7527" "0" "c.*4083T>C" "r.(=)" "p.(=)" "" "0000307724" "00025524" "70" "1614" "1" "1614" "1" "c.1614+1G>C" "r.spl?" "p.?" "" "0000570491" "00025524" "30" "8411" "0" "8411" "0" "c.*4967G>A" "r.(=)" "p.(=)" "" "0000570492" "00025524" "30" "8408" "0" "8408" "0" "c.*4964G>A" "r.(=)" "p.(=)" "" "0000570493" "00025524" "30" "8405" "0" "8405" "0" "c.*4961G>A" "r.(=)" "p.(=)" "" "0000570494" "00025524" "70" "7556" "0" "7556" "0" "c.*4112G>A" "r.(=)" "p.(=)" "" "0000570497" "00025524" "30" "6322" "0" "6322" "0" "c.*2878T>C" "r.(=)" "p.(=)" "" "0000570498" "00025524" "30" "6307" "0" "6307" "0" "c.*2863A>T" "r.(=)" "p.(=)" "" "0000570499" "00025524" "30" "2793" "0" "2793" "0" "c.2793A>G" "r.(?)" "p.(Pro931=)" "" "0000570500" "00025524" "30" "2562" "0" "2562" "0" "c.2562C>T" "r.(?)" "p.(Pro854=)" "" "0000570501" "00025524" "50" "2005" "0" "2005" "0" "c.2005A>G" "r.(?)" "p.(Ile669Val)" "" "0000618318" "00025524" "30" "8348" "0" "8348" "0" "c.*4904G>A" "r.(=)" "p.(=)" "" "0000618319" "00025524" "30" "6307" "0" "6307" "0" "c.*2863A>T" "r.(=)" "p.(=)" "" "0000618320" "00025524" "30" "6307" "0" "6307" "0" "c.*2863A>T" "r.(=)" "p.(=)" "" "0000618321" "00025524" "30" "3394" "0" "3394" "0" "c.3394T>A" "r.(?)" "p.(Ser1132Thr)" "" "0000618322" "00025524" "30" "2796" "0" "2796" "0" "c.2796G>T" "r.(?)" "p.(Gly932=)" "" "0000624200" "00025524" "30" "2489" "-3" "2489" "-3" "c.2489-3T>C" "r.spl?" "p.?" "" "0000658815" "00025524" "30" "8414" "0" "8414" "0" "c.*4970A>G" "r.(=)" "p.(=)" "" "0000658816" "00025524" "50" "453" "0" "456" "0" "c.453_456del" "r.(?)" "p.(Asn151LysfsTer8)" "" "0000667864" "00025524" "90" "321" "1" "321" "1" "c.321+1G>T" "r.[193_321del,114_321del,?]" "p.?" "4i" "0000667865" "00025524" "90" "453" "0" "456" "0" "c.453_456del" "r.(?)" "p.(Asn151Lysfs*8)" "" "0000667866" "00025524" "90" "1028" "0" "1028" "0" "c.1028del" "r.(?)" "p.(Pro343Hisfs*3)" "" "0000667867" "00025524" "90" "1301" "0" "1301" "0" "c.1301C>A" "r.1301c>a" "p.Ser434*" "" "0000667868" "00025524" "90" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(Arg475*)" "" "0000667869" "00025524" "70" "1614" "1" "1614" "1" "c.1614+1G>C" "r.spl" "p.?" "13i" "0000667870" "00025524" "90" "1649" "0" "1649" "0" "c.1649dup" "r.(?)" "p.(Met550Ilefs*4)" "" "0000667871" "00025524" "90" "1812" "0" "1812" "0" "c.1812G>A" "r.(?)" "p.(Trp604*)" "" "0000667872" "00025524" "90" "1889" "0" "1889" "0" "c.1889G>A" "r.1889g>a" "p.Trp630*" "" "0000667873" "00025524" "70" "3200" "0" "3201" "0" "c.3200_3201del" "r.(?)" "p.(Glu1067Valfs*3)" "" "0000667874" "00025524" "70" "783" "0" "783" "0" "c.783G>T" "r.783g>u" "p.Leu261Phe" "" "0000681704" "00025524" "30" "1021" "0" "1021" "0" "c.1021T>C" "r.(?)" "p.(Phe341Leu)" "" "0000681705" "00025524" "30" "876" "0" "876" "0" "c.876C>T" "r.(?)" "p.(Ala292=)" "" "0000704161" "00025524" "70" "2375" "0" "2375" "0" "c.2375del" "r.(?)" "p.(Ala792Valfs*11)" "" "0000727875" "00025524" "50" "1457" "0" "1458" "0" "c.1457_1458del" "r.(?)" "p.(Lys486Argfs*49)" "" "0000809356" "00025524" "50" "768" "0" "768" "0" "c.768del" "r.(?)" "p.(Phe257Leufs*89)" "" "0000866611" "00025524" "50" "407" "0" "407" "0" "c.407C>T" "r.(?)" "p.(Ala136Val)" "" "0000895450" "00025524" "50" "3394" "0" "3394" "0" "c.3394T>A" "r.(?)" "p.(Ser1132Thr)" "" "0000895451" "00025524" "50" "3371" "0" "3372" "0" "c.3371_3372del" "r.(?)" "p.(Glu1124Valfs*4)" "" "0000915441" "00025524" "30" "2877" "0" "2879" "0" "c.2877_2879del" "r.(?)" "p.(Gln966del)" "" "0000915442" "00025524" "50" "2287" "0" "2287" "0" "c.2287A>C" "r.(?)" "p.(Ile763Leu)" "" "0000915443" "00025524" "50" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Val383Met)" "" "0000931212" "00025524" "70" "1450" "0" "1450" "0" "c.1450C>T" "r.(?)" "p.(Arg484*)" "" "0000951492" "00025524" "50" "8330" "0" "8332" "0" "c.*4886_*4888del" "r.(=)" "p.(=)" "" "0000951493" "00025524" "90" "6296" "0" "6296" "0" "c.*2852A>G" "r.(=)" "p.(=)" "" "0000951494" "00025524" "50" "2751" "0" "2751" "0" "c.2751G>T" "r.(?)" "p.(Arg917Ser)" "" "0000951495" "00025524" "70" "1471" "0" "1471" "0" "c.1471C>T" "r.(?)" "p.(Arg491*)" "" "0000970276" "00025524" "50" "1264" "0" "1264" "0" "c.1264C>G" "r.(?)" "p.(Gln422Glu)" "" "0000983956" "00025524" "90" "7484" "0" "7484" "0" "c.*4040A>G" "r.(=)" "p.(=)" "" "0000983957" "00025524" "50" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Pro313Ser)" "" "0000984923" "00025524" "70" "1457" "0" "1460" "0" "c.1457_1460del" "r.(?)" "p.(Lys486Argfs*12)" "12" "0001005648" "00025524" "70" "6287" "0" "6287" "0" "c.*2843C>G" "r.(=)" "p.(=)" "" "0001005649" "00025524" "30" "3217" "0" "3217" "0" "c.3217G>A" "r.(?)" "p.(Glu1073Lys)" "" "0001005650" "00025524" "50" "2891" "0" "2899" "0" "c.2891_2899del" "r.(?)" "p.(Gln964_Gln966del)" "" "0001005651" "00025524" "50" "2732" "0" "2732" "0" "c.2732C>T" "r.(?)" "p.(Pro911Leu)" "" "0001005652" "00025524" "50" "2648" "0" "2648" "0" "c.2648C>T" "r.(?)" "p.(Pro883Leu)" "" "0001005653" "00025524" "50" "2116" "0" "2116" "0" "c.2116A>G" "r.(?)" "p.(Ile706Val)" "" "0001005654" "00025524" "30" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461His)" "" "0001005655" "00025524" "50" "1277" "0" "1277" "0" "c.1277G>A" "r.(?)" "p.(Arg426Gln)" "" "0001005656" "00025524" "30" "1159" "0" "1159" "0" "c.1159A>G" "r.(?)" "p.(Thr387Ala)" "" "0001005657" "00025524" "30" "1058" "0" "1058" "0" "c.1058T>C" "r.(?)" "p.(Met353Thr)" "" "0001005658" "00025524" "30" "868" "0" "868" "0" "c.868C>A" "r.(?)" "p.(Pro290Thr)" "" "0001005659" "00025524" "70" "175" "0" "175" "0" "c.175A>T" "r.(?)" "p.(Lys59*)" "" "0001043554" "00025524" "30" "2210" "-5" "2210" "-5" "c.2210-5del" "r.spl?" "p.?" "" "0001043555" "00025524" "30" "1974" "0" "1974" "0" "c.1974A>G" "r.(?)" "p.(Ile658Met)" "" "0001043556" "00025524" "30" "1916" "0" "1916" "0" "c.1916A>G" "r.(?)" "p.(Asn639Ser)" "" "0001046794" "00025524" "30" "2091" "0" "2091" "0" "c.2091G>A" "r.(?)" "p.(Pro697=)" "" "0001049541" "00025524" "70" "1585" "0" "1585" "0" "c.1585G>T" "r.(?)" "p.(Glu529*)" "13" "0001056988" "00025524" "50" "3227" "0" "3227" "0" "c.3227G>A" "r.(?)" "p.(Arg1076Gln)" "" "0001056989" "00025524" "30" "3083" "0" "3083" "0" "c.3083G>A" "r.(?)" "p.(Arg1028His)" "" "0001056990" "00025524" "70" "1313" "0" "1313" "0" "c.1313dup" "r.(?)" "p.(Ala439Serfs*11)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000000209" "0000006001" "0000000209" "0000006002" "0000000209" "0000006003" "0000304421" "0000667864" "0000304422" "0000667865" "0000304423" "0000667866" "0000304424" "0000667867" "0000304425" "0000667868" "0000304426" "0000667869" "0000304427" "0000667870" "0000304428" "0000667871" "0000304429" "0000667872" "0000304430" "0000667873" "0000304431" "0000667874" "0000321332" "0000704161" "0000451145" "0000984923" "0000469279" "0001049541"