### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMARCAL1) # 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}}" "SMARCAL1" "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1" "2" "q35" "unknown" "LRG_108" "UD_132119158042" "" "http://www.LOVD.nl/SMARCAL1" "" "1" "11102" "50485" "606622" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SMARCAL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-11 18:55:06" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00019422" "SMARCAL1" "transcript variant 2" "002" "NM_001127207.1" "" "NP_001120679.1" "" "" "" "-144" "2941" "2865" "217277473" "217347776" "" "0000-00-00 00:00:00" "" "" "00024139" "SMARCAL1" "transcript variant 1" "001" "NM_014140.3" "" "NP_054859.2" "" "" "" "-330" "2941" "2865" "217277137" "217347776" "00006" "2016-06-11 18:53:40" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00399" "NPHS" "nephrotic syndrome (NPHS)" "" "" "" "" "" "00006" "2014-06-06 10:05:35" "00006" "2018-07-03 16:45:22" "01871" "SIOD" "Schimke immunoosseous dysplasia" "AR" "242900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "06887" "dysplasia, bone" "dysplasia, bone" "" "" "" "" "" "00006" "2021-12-27 10:53:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SMARCAL1" "01871" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00064743" "" "" "" "1" "" "01603" "" "" "M" "no" "(Spain)" "06y" "0" "" "" "" "" "00292585" "" "" "" "36" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00397620" "" "" "" "1" "" "00006" "{PMID:Zhang 2015:26377240}" "" "" "" "China" "" "0" "" "" "" "Tab4-Pat13" "00433138" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "Norway" "" "0" "" "" "" "Pat119,1" "00433141" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "Pakistan" "" "0" "" "" "" "Pat122,1" "00448545" "" "" "" "1" "" "03676" "" "" "M" "" "Egypt" "" "" "" "" "" "" "00469399" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469400" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469401" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00064743" "01871" "00292585" "00198" "00397620" "06887" "00433138" "05292" "00433141" "05292" "00448545" "00399" "00469399" "00198" "00469400" "00198" "00469401" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00399, 01871, 05292, 06887 ## Count = 7 "{{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}}" "0000050901" "01871" "00064743" "01603" "Familial, autosomal recessive" "04y" "" "00y02m?" "" "04y" "" "" "" "" "" "" "" "" "0000290744" "06887" "00397620" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "SIOD" "Schimke immunoosseous dysplasia" "" "0000323664" "05292" "00433138" "00006" "Familial, autosomal recessive" "35y" "atypical Schimke immunoosseous dysplasia, uncharacteristically mild phenotype, small adult height (2.5 percentile), 20y-30y-onset focal segmental glomerulosclerosis, mild immunodeficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000323667" "05292" "00433141" "00006" "Familial, autosomal recessive" "4y" "immuno-osseous dysplasia, chromosomal disorder and other syndromic primary immunodeficiency diseases" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000354552" "00198" "00469399" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000354553" "00198" "00469400" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000354554" "00198" "00469401" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the skeletal system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000064883" "00064743" "1" "01603" "01603" "2016-05-10 21:17:58" "" "" "SEQ;SEQ-NG-R" "DNA" "blood" "" "0000293753" "00292585" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000398858" "00397620" "1" "00006" "00006" "2021-12-27 11:55:19" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000434569" "00433138" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000434572" "00433141" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "" "0000450135" "00448545" "1" "03676" "03676" "2024-04-08 12:30:34" "" "" "SEQ-NG" "DNA" "Blood" "" "0000471067" "00469399" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471068" "00469400" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471069" "00469401" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000064883" "SMARCAL1" "0000450135" "SMARCAL1" ## 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 = 114 "{{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}}" "0000096549" "3" "70" "2" "217300190" "217300190" "subst" "4.06072E-6" "01603" "SMARCAL1_000001" "g.217300190C>G" "" "" "" "" "SEQ_NGS 0/15 reads. Confirmed SEQ (Sanger) missense variant affecting the splicing; minigene assay confirmed creation new splice donor site" "Germline" "yes" "" "0" "" "" "g.216435467C>G" "" "likely pathogenic" "" "0000251275" "0" "10" "2" "217329445" "217329445" "subst" "0" "02326" "SMARCAL1_000021" "g.217329445A>C" "" "" "" "SMARCAL1(NM_014140.3):c.2141+55A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216464722A>C" "" "benign" "" "0000254630" "0" "30" "2" "217347476" "217347476" "subst" "0.000455151" "01943" "SMARCAL1_000024" "g.217347476A>C" "" "" "" "SMARCAL1(NM_001127207.1):c.2641A>C (p.(Lys881Gln)), SMARCAL1(NM_014140.3):c.2641A>C (p.K881Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216482753A>C" "" "likely benign" "" "0000254737" "0" "30" "2" "217303194" "217303194" "subst" "0" "01943" "SMARCAL1_000014" "g.217303194A>C" "" "" "" "SMARCAL1(NM_014140.3):c.1696A>C (p.M566L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216438471A>C" "" "likely benign" "" "0000298397" "0" "10" "2" "217315787" "217315787" "subst" "0.109772" "02325" "SMARCAL1_000016" "g.217315787T>C" "" "" "" "SMARCAL1(NM_014140.4):c.2070T>C (p.T690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216451064T>C" "" "benign" "" "0000302336" "0" "10" "2" "217285447" "217285447" "subst" "0" "02326" "SMARCAL1_000010" "g.217285447C>T" "" "" "" "SMARCAL1(NM_014140.3):c.1096+192C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216420724C>T" "" "benign" "" "0000302337" "0" "10" "2" "217288388" "217288388" "subst" "0.0317219" "02326" "SMARCAL1_000011" "g.217288388G>C" "" "" "" "SMARCAL1(NM_001127207.1):c.1129G>C (p.(Glu377Gln)), SMARCAL1(NM_014140.3):c.1129G>C (p.E377Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216423665G>C" "" "benign" "" "0000302338" "0" "10" "2" "217288440" "217288440" "subst" "0.000764184" "02326" "SMARCAL1_000012" "g.217288440C>A" "" "" "" "SMARCAL1(NM_014140.3):c.1147+34C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216423717C>A" "" "benign" "" "0000302339" "0" "30" "2" "217300109" "217300109" "subst" "0.000779657" "02326" "SMARCAL1_000013" "g.217300109G>A" "" "" "" "SMARCAL1(NM_014140.3):c.1534G>A (p.V512M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216435386G>A" "" "likely benign" "" "0000302340" "0" "30" "2" "217311880" "217311880" "subst" "0.000739747" "02326" "SMARCAL1_000015" "g.217311880G>T" "" "" "" "SMARCAL1(NM_014140.3):c.1850G>T (p.R617L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216447157G>T" "" "likely benign" "" "0000302341" "0" "10" "2" "217329407" "217329407" "subst" "0.00634388" "02326" "SMARCAL1_000019" "g.217329407T>C" "" "" "" "SMARCAL1(NM_014140.3):c.2141+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216464684T>C" "" "benign" "" "0000302342" "0" "10" "2" "217329446" "217329446" "dup" "0" "02326" "SMARCAL1_000020" "g.217329446dup" "" "" "" "SMARCAL1(NM_014140.3):c.2141+56dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216464723dup" "" "benign" "" "0000302343" "0" "10" "2" "217341737" "217341737" "subst" "0" "02326" "SMARCAL1_000022" "g.217341737G>A" "" "" "" "SMARCAL1(NM_014140.3):c.2428-95G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216477014G>A" "" "benign" "" "0000302344" "0" "10" "2" "217279768" "217279768" "subst" "0.0139875" "02326" "SMARCAL1_000002" "g.217279768G>A" "" "" "" "SMARCAL1(NM_014140.3):c.341G>A (p.R114H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216415045G>A" "" "benign" "" "0000302345" "0" "50" "2" "217281004" "217281004" "subst" "0.000109638" "02326" "SMARCAL1_000004" "g.217281004T>C" "" "" "" "SMARCAL1(NM_014140.3):c.836T>C (p.F279S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216416281T>C" "" "VUS" "" "0000302346" "0" "30" "2" "217281158" "217281158" "del" "0" "02326" "SMARCAL1_000005" "g.217281158del" "" "" "" "SMARCAL1(NM_014140.3):c.862+128delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216416435del" "" "likely benign" "" "0000302347" "0" "10" "2" "217281213" "217281213" "subst" "0" "02326" "SMARCAL1_000006" "g.217281213G>A" "" "" "" "SMARCAL1(NM_014140.3):c.862+183G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216416490G>A" "" "benign" "" "0000302348" "0" "10" "2" "217285060" "217285060" "subst" "0.00188524" "02326" "SMARCAL1_000007" "g.217285060C>G" "" "" "" "SMARCAL1(NM_014140.3):c.901C>G (p.P301A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216420337C>G" "" "benign" "" "0000302349" "0" "30" "2" "217285104" "217285104" "subst" "0.0245692" "02326" "SMARCAL1_000009" "g.217285104C>G" "" "" "" "SMARCAL1(NM_014140.3):c.945C>G (p.S315R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216420381C>G" "" "likely benign" "" "0000308596" "0" "50" "2" "217329363" "217329363" "subst" "0.000109727" "01943" "SMARCAL1_000018" "g.217329363C>T" "" "" "" "SMARCAL1(NM_014140.3):c.2114C>T (p.T705I), SMARCAL1(NM_014140.4):c.2114C>T (p.(Thr705Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216464640C>T" "" "VUS" "" "0000308597" "0" "30" "2" "217279875" "217279875" "subst" "8.54722E-5" "01943" "SMARCAL1_000003" "g.217279875G>T" "" "" "" "SMARCAL1(NM_014140.3):c.448G>T (p.A150S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216415152G>T" "" "likely benign" "" "0000308598" "0" "10" "2" "217285060" "217285060" "subst" "0.00188524" "01943" "SMARCAL1_000007" "g.217285060C>G" "" "" "" "SMARCAL1(NM_014140.3):c.901C>G (p.P301A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216420337C>G" "" "benign" "" "0000308599" "0" "30" "2" "217285093" "217285093" "subst" "4.06213E-6" "01943" "SMARCAL1_000008" "g.217285093C>G" "" "" "" "SMARCAL1(NM_014140.3):c.934C>G (p.P312A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216420370C>G" "" "likely benign" "" "0000337499" "0" "10" "2" "217277249" "217277249" "subst" "0" "02327" "SMARCAL1_000025" "g.217277249C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216412526C>T" "" "benign" "" "0000339666" "0" "10" "2" "217315787" "217315787" "subst" "0.109772" "02327" "SMARCAL1_000016" "g.217315787T>C" "" "" "" "SMARCAL1(NM_014140.4):c.2070T>C (p.T690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216451064T>C" "" "benign" "" "0000342998" "0" "50" "2" "217297574" "217297574" "subst" "7.71912E-5" "02327" "SMARCAL1_000027" "g.217297574C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216432851C>T" "" "VUS" "" "0000345388" "0" "10" "2" "217288388" "217288388" "subst" "0.0317219" "02327" "SMARCAL1_000011" "g.217288388G>C" "" "" "" "SMARCAL1(NM_001127207.1):c.1129G>C (p.(Glu377Gln)), SMARCAL1(NM_014140.3):c.1129G>C (p.E377Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216423665G>C" "" "benign" "" "0000345573" "0" "90" "2" "217342939" "217342939" "subst" "7.71743E-5" "02327" "SMARCAL1_000029" "g.217342939G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216478216G>T" "" "pathogenic" "" "0000350743" "0" "90" "2" "217285020" "217285020" "subst" "0.000122391" "02327" "SMARCAL1_000026" "g.217285020A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.216420297A>G" "" "pathogenic" "" "0000514522" "0" "10" "2" "217279499" "217279499" "subst" "0.00229045" "02326" "SMARCAL1_000030" "g.217279499A>G" "" "" "" "SMARCAL1(NM_014140.3):c.72A>G (p.R24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216414776A>G" "" "benign" "" "0000514523" "0" "50" "2" "217279544" "217279544" "subst" "0.00010559" "01943" "SMARCAL1_000031" "g.217279544C>T" "" "" "" "SMARCAL1(NM_014140.3):c.117C>T (p.G39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216414821C>T" "" "VUS" "" "0000514524" "0" "30" "2" "217279554" "217279554" "subst" "0.00320008" "01804" "SMARCAL1_000032" "g.217279554G>A" "" "" "" "SMARCAL1(NM_001127207.1):c.127G>A (p.(Ala43Thr)), SMARCAL1(NM_014140.3):c.127G>A (p.A43T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216414831G>A" "" "likely benign" "" "0000514525" "0" "10" "2" "217279554" "217279554" "subst" "0.00320008" "02326" "SMARCAL1_000032" "g.217279554G>A" "" "" "" "SMARCAL1(NM_001127207.1):c.127G>A (p.(Ala43Thr)), SMARCAL1(NM_014140.3):c.127G>A (p.A43T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216414831G>A" "" "benign" "" "0000514526" "0" "30" "2" "217279563" "217279563" "subst" "0" "01943" "SMARCAL1_000033" "g.217279563C>T" "" "" "" "SMARCAL1(NM_014140.3):c.136C>T (p.P46S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216414840C>T" "" "likely benign" "" "0000514527" "0" "90" "2" "217279842" "217279843" "del" "1.62587E-5" "02327" "SMARCAL1_000034" "g.217279842_217279843del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216415119_216415120del" "" "pathogenic" "" "0000514528" "0" "30" "2" "217280031" "217280031" "subst" "1.62431E-5" "01943" "SMARCAL1_000035" "g.217280031C>A" "" "" "" "SMARCAL1(NM_014140.3):c.604C>A (p.Q202K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216415308C>A" "" "likely benign" "" "0000514529" "0" "50" "2" "217281004" "217281004" "subst" "0.000109638" "02327" "SMARCAL1_000004" "g.217281004T>C" "" "" "" "SMARCAL1(NM_014140.3):c.836T>C (p.F279S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216416281T>C" "" "VUS" "" "0000514530" "0" "50" "2" "217285048" "217285048" "subst" "0" "01943" "SMARCAL1_000036" "g.217285048G>A" "" "" "" "SMARCAL1(NM_014140.3):c.889G>A (p.V297I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216420325G>A" "" "VUS" "" "0000514532" "0" "50" "2" "217285086" "217285086" "subst" "0.000150327" "01943" "SMARCAL1_000037" "g.217285086C>T" "" "" "" "SMARCAL1(NM_014140.3):c.927C>T (p.S309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216420363C>T" "" "VUS" "" "0000514534" "0" "30" "2" "217288388" "217288388" "subst" "0.0317219" "01804" "SMARCAL1_000011" "g.217288388G>C" "" "" "" "SMARCAL1(NM_001127207.1):c.1129G>C (p.(Glu377Gln)), SMARCAL1(NM_014140.3):c.1129G>C (p.E377Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216423665G>C" "" "likely benign" "" "0000514535" "0" "30" "2" "217293367" "217293367" "subst" "0.00126289" "01943" "SMARCAL1_000038" "g.217293367C>T" "" "" "" "SMARCAL1(NM_001127207.1):c.1196C>T (p.(Thr399Met)), SMARCAL1(NM_014140.3):c.1196C>T (p.T399M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216428644C>T" "" "likely benign" "" "0000514536" "0" "10" "2" "217293414" "217293414" "subst" "0.00188007" "01943" "SMARCAL1_000039" "g.217293414A>G" "" "" "" "SMARCAL1(NM_014140.3):c.1243A>G (p.S415G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216428691A>G" "" "benign" "" "0000514537" "0" "30" "2" "217293442" "217293442" "subst" "0.00226175" "01943" "SMARCAL1_000040" "g.217293442A>T" "" "" "" "SMARCAL1(NM_001127207.1):c.1271A>T (p.(Asp424Val)), SMARCAL1(NM_014140.3):c.1271A>T (p.D424V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216428719A>T" "" "likely benign" "" "0000514538" "0" "30" "2" "217293442" "217293442" "subst" "0.00226175" "02326" "SMARCAL1_000040" "g.217293442A>T" "" "" "" "SMARCAL1(NM_001127207.1):c.1271A>T (p.(Asp424Val)), SMARCAL1(NM_014140.3):c.1271A>T (p.D424V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216428719A>T" "" "likely benign" "" "0000514539" "0" "70" "2" "217297491" "217297491" "subst" "0" "02327" "SMARCAL1_000041" "g.217297491T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216432768T>C" "" "likely pathogenic" "" "0000514540" "0" "50" "2" "217303180" "217303180" "subst" "1.62632E-5" "02327" "SMARCAL1_000042" "g.217303180G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216438457G>A" "" "VUS" "" "0000514541" "0" "50" "2" "217303192" "217303192" "subst" "4.06663E-6" "01943" "SMARCAL1_000043" "g.217303192C>T" "" "" "" "SMARCAL1(NM_014140.3):c.1694C>T (p.A565V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216438469C>T" "" "VUS" "" "0000514542" "0" "30" "2" "217311884" "217311884" "subst" "1.2194E-5" "01943" "SMARCAL1_000044" "g.217311884A>G" "" "" "" "SMARCAL1(NM_014140.3):c.1851+3A>G, SMARCAL1(NM_014140.4):c.1851+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216447161A>G" "" "likely benign" "" "0000514543" "0" "70" "2" "217315789" "217315789" "dup" "0" "01943" "SMARCAL1_000028" "g.217315789dup" "" "" "" "SMARCAL1(NM_001127207.1):c.2070+2dup (p.?), SMARCAL1(NM_014140.3):c.2070+2dupT, SMARCAL1(NM_014140.4):c.2070+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216451066dup" "" "likely pathogenic" "" "0000514544" "0" "50" "2" "217340010" "217340010" "subst" "8.55125E-5" "01804" "SMARCAL1_000045" "g.217340010A>G" "" "" "" "SMARCAL1(NM_014140.4):c.2263A>G (p.(Ile755Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216475287A>G" "" "VUS" "" "0000514545" "0" "50" "2" "217347479" "217347479" "subst" "0" "01804" "SMARCAL1_000046" "g.217347479A>G" "" "" "" "SMARCAL1(NM_001127207.1):c.2644A>G (p.(Ile882Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216482756A>G" "" "VUS" "" "0000514546" "0" "30" "2" "217347570" "217347570" "subst" "5.28215E-5" "01943" "SMARCAL1_000047" "g.217347570C>T" "" "" "" "SMARCAL1(NM_014140.3):c.2735C>T (p.S912L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216482847C>T" "" "likely benign" "" "0000514547" "0" "30" "2" "217347673" "217347673" "subst" "0" "01943" "SMARCAL1_000048" "g.217347673C>T" "" "" "" "SMARCAL1(NM_014140.3):c.2838C>T (p.N946=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216482950C>T" "" "likely benign" "" "0000607477" "0" "30" "2" "217293422" "217293422" "subst" "2.03036E-5" "01943" "SMARCAL1_000049" "g.217293422G>A" "" "" "" "SMARCAL1(NM_014140.3):c.1251G>A (p.T417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216428699G>A" "" "likely benign" "" "0000607478" "0" "50" "2" "217311886" "217311886" "subst" "0.000666645" "01943" "SMARCAL1_000050" "g.217311886G>A" "" "" "" "SMARCAL1(NM_001127207.1):c.1851+5G>A (p.?), SMARCAL1(NM_014140.3):c.1851+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216447163G>A" "" "VUS" "" "0000650442" "1" "50" "2" "217279850" "217279850" "subst" "0.0097627" "03575" "SMARCAL1_000051" "g.217279850T>C" "36/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 36 heterozygous, no homozygous; {DB:CLININrs35907255}" "Germline" "" "rs35907255" "0" "" "" "g.216415127T>C" "" "VUS" "" "0000654557" "0" "30" "2" "217341858" "217341858" "subst" "0" "01943" "SMARCAL1_000052" "g.217341858G>A" "" "" "" "SMARCAL1(NM_014140.3):c.2454G>A (p.V818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.216477135G>A" "" "likely benign" "" "0000676501" "0" "50" "2" "217293472" "217293472" "subst" "0.000101515" "02325" "SMARCAL1_000053" "g.217293472C>T" "" "" "" "SMARCAL1(NM_001127207.1):c.1301C>T (p.(Ser434Phe)), SMARCAL1(NM_014140.4):c.1301C>T (p.S434F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718471" "0" "30" "2" "217293367" "217293367" "subst" "0.00126289" "02326" "SMARCAL1_000038" "g.217293367C>T" "" "" "" "SMARCAL1(NM_001127207.1):c.1196C>T (p.(Thr399Met)), SMARCAL1(NM_014140.3):c.1196C>T (p.T399M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718472" "0" "30" "2" "217293442" "217293442" "subst" "0.00226175" "01804" "SMARCAL1_000040" "g.217293442A>T" "" "" "" "SMARCAL1(NM_001127207.1):c.1271A>T (p.(Asp424Val)), SMARCAL1(NM_014140.3):c.1271A>T (p.D424V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718473" "0" "30" "2" "217341947" "217341947" "subst" "0.00087454" "02326" "SMARCAL1_000054" "g.217341947G>A" "" "" "" "SMARCAL1(NM_014140.3):c.2528+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800366" "0" "30" "2" "217280151" "217280151" "subst" "2.45433E-5" "02326" "SMARCAL1_000055" "g.217280151G>A" "" "" "" "SMARCAL1(NM_014140.3):c.724G>A (p.V242I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800367" "0" "50" "2" "217311816" "217311816" "subst" "7.31684E-5" "01804" "SMARCAL1_000056" "g.217311816G>A" "" "" "" "SMARCAL1(NM_001127207.1):c.1786G>A (p.(Ala596Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800368" "0" "30" "2" "217339995" "217339995" "subst" "4.08213E-6" "01804" "SMARCAL1_000057" "g.217339995G>A" "" "" "" "SMARCAL1(NM_001127207.1):c.2248G>A (p.(Val750Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000831125" "3" "70" "2" "217280097" "217280097" "subst" "0" "00006" "SMARCAL1_000058" "g.217280097C>T" "" "{PMID:Zhang 2015:26377240}" "" "" "" "Germline" "" "" "0" "" "" "g.216415374C>T" "" "likely pathogenic" "" "0000849709" "0" "30" "2" "217280107" "217280107" "subst" "0" "02326" "SMARCAL1_000061" "g.217280107G>T" "" "" "" "SMARCAL1(NM_014140.3):c.680G>T (p.G227V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849710" "0" "50" "2" "217297448" "217297448" "subst" "2.43704E-5" "01943" "SMARCAL1_000062" "g.217297448A>G" "" "" "" "SMARCAL1(NM_014140.3):c.1342A>G (p.I448V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849711" "0" "90" "2" "217315789" "217315789" "dup" "0" "02329" "SMARCAL1_000028" "g.217315789dup" "" "" "" "SMARCAL1(NM_001127207.1):c.2070+2dup (p.?), SMARCAL1(NM_014140.3):c.2070+2dupT, SMARCAL1(NM_014140.4):c.2070+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858311" "0" "50" "2" "217279618" "217279618" "subst" "0" "01943" "SMARCAL1_000059" "g.217279618C>T" "" "" "" "SMARCAL1(NM_014140.3):c.191C>T (p.P64L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858312" "0" "30" "2" "217280030" "217280030" "subst" "0.000588823" "02326" "SMARCAL1_000060" "g.217280030G>C" "" "" "" "SMARCAL1(NM_014140.3):c.603G>C (p.G201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858313" "0" "30" "2" "217297533" "217297533" "subst" "7.31042E-5" "01804" "SMARCAL1_000063" "g.217297533G>A" "" "" "" "SMARCAL1(NM_001127207.1):c.1427G>A (p.(Arg476Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858314" "0" "30" "2" "217311815" "217311815" "subst" "0.000455214" "01943" "SMARCAL1_000064" "g.217311815C>T" "" "" "" "SMARCAL1(NM_014140.3):c.1785C>T (p.I595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858315" "0" "30" "2" "217315625" "217315625" "subst" "4.88166E-5" "02326" "SMARCAL1_000065" "g.217315625G>A" "" "" "" "SMARCAL1(NM_014140.3):c.1908G>A (p.L636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884863" "0" "30" "2" "217280071" "217280071" "subst" "1.21908E-5" "01804" "SMARCAL1_000066" "g.217280071C>T" "" "" "" "SMARCAL1(NM_001127207.1):c.644C>T (p.(Thr215Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884864" "0" "30" "2" "217280996" "217280996" "subst" "1.21821E-5" "02326" "SMARCAL1_000067" "g.217280996G>T" "" "" "" "SMARCAL1(NM_014140.3):c.828G>T (p.T276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884865" "0" "30" "2" "217293383" "217293383" "subst" "0.000730941" "02326" "SMARCAL1_000068" "g.217293383G>A" "" "" "" "SMARCAL1(NM_014140.3):c.1212G>A (p.A404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884866" "0" "30" "2" "217293472" "217293472" "subst" "0.000101515" "01804" "SMARCAL1_000053" "g.217293472C>T" "" "" "" "SMARCAL1(NM_001127207.1):c.1301C>T (p.(Ser434Phe)), SMARCAL1(NM_014140.4):c.1301C>T (p.S434F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884867" "0" "50" "2" "217311886" "217311886" "subst" "0.000666645" "02326" "SMARCAL1_000050" "g.217311886G>A" "" "" "" "SMARCAL1(NM_001127207.1):c.1851+5G>A (p.?), SMARCAL1(NM_014140.3):c.1851+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884868" "0" "70" "2" "217315789" "217315789" "dup" "0" "01804" "SMARCAL1_000028" "g.217315789dup" "" "" "" "SMARCAL1(NM_001127207.1):c.2070+2dup (p.?), SMARCAL1(NM_014140.3):c.2070+2dupT, SMARCAL1(NM_014140.4):c.2070+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000884869" "0" "30" "2" "217332750" "217332750" "subst" "0.000203122" "01804" "SMARCAL1_000069" "g.217332750C>T" "" "" "" "SMARCAL1(NM_001127207.1):c.2225C>T (p.(Thr742Met)), SMARCAL1(NM_014140.3):c.2225C>T (p.T742M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884870" "0" "30" "2" "217332750" "217332750" "subst" "0.000203122" "02326" "SMARCAL1_000069" "g.217332750C>T" "" "" "" "SMARCAL1(NM_001127207.1):c.2225C>T (p.(Thr742Met)), SMARCAL1(NM_014140.3):c.2225C>T (p.T742M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884871" "0" "30" "2" "217332751" "217332751" "subst" "0.00111325" "02326" "SMARCAL1_000070" "g.217332751G>A" "" "" "" "SMARCAL1(NM_014140.3):c.2226G>A (p.T742=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911573" "0" "50" "2" "217293330" "217293330" "subst" "0.000235556" "01804" "SMARCAL1_000071" "g.217293330C>T" "" "" "" "SMARCAL1(NM_001127207.1):c.1159C>T (p.(Arg387Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911574" "0" "30" "2" "217293368" "217293368" "subst" "8.12137E-6" "02326" "SMARCAL1_000072" "g.217293368G>A" "" "" "" "SMARCAL1(NM_014140.3):c.1197G>A (p.T399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911575" "0" "30" "2" "217347476" "217347476" "subst" "0.000455151" "01804" "SMARCAL1_000024" "g.217347476A>C" "" "" "" "SMARCAL1(NM_001127207.1):c.2641A>C (p.(Lys881Gln)), SMARCAL1(NM_014140.3):c.2641A>C (p.K881Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920321" "21" "90" "2" "217315789" "217315789" "dup" "0" "00006" "SMARCAL1_000028" "g.217315789dup" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "c.2070+2dupT" "partial splicing defect may associate with milder phenotype" "De novo" "" "" "0" "" "" "g.216451066dup" "" "pathogenic" "ACMG" "0000920324" "3" "90" "2" "217279427" "217281031" "del" "0" "00006" "SMARCAL1_000074" "g.(?_217279427)_(217281031_?)del" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "del ex3-4, hg19 (217279427-217281031)x0" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000920365" "11" "70" "2" "217329363" "217329363" "subst" "0.000109727" "00006" "SMARCAL1_000018" "g.217329363C>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "De novo" "" "" "0" "" "" "g.216464640C>T" "" "likely pathogenic" "ACMG" "0000923605" "0" "30" "2" "217277384" "217277384" "subst" "0" "02326" "SMARCAL1_000075" "g.217277384T>C" "" "" "" "SMARCAL1(NM_014140.3):c.-96+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923606" "0" "90" "2" "217293419" "217293419" "dup" "0" "02327" "SMARCAL1_000076" "g.217293419dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923607" "0" "30" "2" "217297455" "217297455" "subst" "2.03072E-5" "01804" "SMARCAL1_000077" "g.217297455A>G" "" "" "" "SMARCAL1(NM_001127207.1):c.1349A>G (p.(Lys450Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923608" "0" "90" "2" "217303185" "217303185" "subst" "0" "02326" "SMARCAL1_000078" "g.217303185C>T" "" "" "" "SMARCAL1(NM_014140.3):c.1687C>T (p.R563*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923609" "0" "30" "2" "217315712" "217315712" "subst" "0.000593308" "02326" "SMARCAL1_000079" "g.217315712C>T" "" "" "" "SMARCAL1(NM_014140.3):c.1995C>T (p.A665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928516" "0" "30" "2" "217293367" "217293367" "subst" "0.00126289" "01804" "SMARCAL1_000038" "g.217293367C>T" "" "" "" "SMARCAL1(NM_001127207.1):c.1196C>T (p.(Thr399Met)), SMARCAL1(NM_014140.3):c.1196C>T (p.T399M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928517" "0" "10" "2" "217293414" "217293414" "subst" "0.00188007" "02326" "SMARCAL1_000039" "g.217293414A>G" "" "" "" "SMARCAL1(NM_014140.3):c.1243A>G (p.S415G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928518" "0" "50" "2" "217311886" "217311886" "subst" "0.000666645" "01804" "SMARCAL1_000050" "g.217311886G>A" "" "" "" "SMARCAL1(NM_001127207.1):c.1851+5G>A (p.?), SMARCAL1(NM_014140.3):c.1851+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947745" "0" "50" "2" "217347687" "217347687" "subst" "0" "01804" "SMARCAL1_000080" "g.217347687C>T" "" "" "" "SMARCAL1(NM_001127207.1):c.2852C>T (p.(Thr951Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961883" "0" "70" "2" "217329363" "217329363" "subst" "0.000109727" "02326" "SMARCAL1_000018" "g.217329363C>T" "" "" "" "SMARCAL1(NM_014140.3):c.2114C>T (p.T705I), SMARCAL1(NM_014140.4):c.2114C>T (p.(Thr705Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000972094" "3" "70" "2" "217285259" "217285259" "subst" "0" "03676" "SMARCAL1_000081" "g.217285259A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.216420536A>G" "" "VUS" "ACMG" "0000974958" "0" "50" "2" "217293505" "217293505" "subst" "0" "01804" "SMARCAL1_000082" "g.217293505A>T" "" "" "" "SMARCAL1(NM_014140.4):c.1334A>T (p.(Asn445Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974959" "0" "30" "2" "217340183" "217340183" "subst" "0.000211238" "02326" "SMARCAL1_000083" "g.217340183C>T" "" "" "" "SMARCAL1(NM_014140.3):c.2427+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974960" "0" "50" "2" "217347655" "217347655" "subst" "0" "01804" "SMARCAL1_000084" "g.217347655A>T" "" "" "" "SMARCAL1(NM_014140.4):c.2820A>T (p.(Arg940Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974961" "0" "50" "2" "217347658" "217347658" "del" "0" "01804" "SMARCAL1_000085" "g.217347658del" "" "" "" "SMARCAL1(NM_014140.4):c.2823del (p.(Phe941LeufsTer31))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032965" "0" "30" "2" "217297570" "217297570" "subst" "6.50026E-5" "01804" "SMARCAL1_000086" "g.217297570C>T" "" "" "" "SMARCAL1(NM_014140.4):c.1464C>T (p.(Ser488=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032966" "0" "30" "2" "217311884" "217311884" "subst" "1.2194E-5" "01804" "SMARCAL1_000044" "g.217311884A>G" "" "" "" "SMARCAL1(NM_014140.3):c.1851+3A>G, SMARCAL1(NM_014140.4):c.1851+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032967" "0" "30" "2" "217315664" "217315664" "subst" "0.023165" "01804" "SMARCAL1_000087" "g.217315664C>T" "" "" "" "SMARCAL1(NM_014140.4):c.1947C>T (p.(Asp649=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032968" "0" "50" "2" "217347521" "217347521" "subst" "0" "01804" "SMARCAL1_000088" "g.217347521G>T" "" "" "" "SMARCAL1(NM_014140.4):c.2686G>T (p.(Asp896Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051065" "0" "70" "2" "217315651" "217315652" "del" "0" "01804" "SMARCAL1_000089" "g.217315651_217315652del" "" "" "" "SMARCAL1(NM_014140.4):c.1934_1935del (p.(Arg645Profs*46))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001051066" "0" "70" "2" "217329363" "217329363" "subst" "0.000109727" "01804" "SMARCAL1_000018" "g.217329363C>T" "" "" "" "SMARCAL1(NM_014140.3):c.2114C>T (p.T705I), SMARCAL1(NM_014140.4):c.2114C>T (p.(Thr705Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001051067" "0" "50" "2" "217342931" "217342931" "subst" "8.52986E-5" "01804" "SMARCAL1_000090" "g.217342931T>A" "" "" "" "SMARCAL1(NM_014140.4):c.2534T>A (p.(Leu845Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059189" "0" "90" "2" "217341863" "217341863" "subst" "0" "00006" "SMARCAL1_000023" "g.217341863G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.216477140G>A" "" "pathogenic" "" "0001059190" "0" "90" "2" "217342939" "217342939" "subst" "7.71743E-5" "00006" "SMARCAL1_000029" "g.217342939G>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.216478216G>T" "" "pathogenic" "" "0001059191" "0" "90" "2" "217300074" "217300074" "subst" "0" "00006" "SMARCAL1_000091" "g.217300074G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.216435351G>A" "" "pathogenic" "" "0001063784" "0" "50" "2" "217315603" "217315603" "subst" "0" "01804" "SMARCAL1_000092" "g.217315603A>T" "" "" "" "SMARCAL1(NM_014140.4):c.1886A>T (p.(Asn629Ile))" "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 SMARCAL1 ## Count = 219 "{{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}}" "0000096549" "00019422" "70" "1615" "0" "1615" "0" "c.1615C>G" "r.[1615c>g;1615_1644del]" "p.[Leu539Val;Leu539_Ile548del]" "9" "0000251275" "00024139" "10" "2141" "55" "2141" "55" "c.2141+55A>C" "r.(=)" "p.(=)" "" "0000251275" "00019422" "10" "2141" "55" "2141" "55" "c.2141+55A>C" "r.(=)" "p.(=)" "" "0000254630" "00024139" "30" "2641" "0" "2641" "0" "c.2641A>C" "r.(?)" "p.(Lys881Gln)" "" "0000254630" "00019422" "30" "2641" "0" "2641" "0" "c.2641A>C" "r.(?)" "p.(Lys881Gln)" "" "0000254737" "00024139" "30" "1696" "0" "1696" "0" "c.1696A>C" "r.(?)" "p.(Met566Leu)" "" "0000254737" "00019422" "30" "1696" "0" "1696" "0" "c.1696A>C" "r.(?)" "p.(Met566Leu)" "" "0000298397" "00024139" "10" "2070" "0" "2070" "0" "c.2070T>C" "r.(?)" "p.(Thr690=)" "" "0000298397" "00019422" "10" "2070" "0" "2070" "0" "c.2070T>C" "r.(?)" "p.(Thr690=)" "" "0000302336" "00024139" "10" "1096" "192" "1096" "192" "c.1096+192C>T" "r.(=)" "p.(=)" "" "0000302336" "00019422" "10" "1096" "192" "1096" "192" "c.1096+192C>T" "r.(=)" "p.(=)" "" "0000302337" "00024139" "10" "1129" "0" "1129" "0" "c.1129G>C" "r.(?)" "p.(Glu377Gln)" "" "0000302337" "00019422" "10" "1129" "0" "1129" "0" "c.1129G>C" "r.(?)" "p.(Glu377Gln)" "" "0000302338" "00024139" "10" "1147" "34" "1147" "34" "c.1147+34C>A" "r.(=)" "p.(=)" "" "0000302338" "00019422" "10" "1147" "34" "1147" "34" "c.1147+34C>A" "r.(=)" "p.(=)" "" "0000302339" "00024139" "30" "1534" "0" "1534" "0" "c.1534G>A" "r.(?)" "p.(Val512Met)" "" "0000302339" "00019422" "30" "1534" "0" "1534" "0" "c.1534G>A" "r.(?)" "p.(Val512Met)" "" "0000302340" "00024139" "30" "1850" "0" "1850" "0" "c.1850G>T" "r.(?)" "p.(Arg617Leu)" "" "0000302340" "00019422" "30" "1850" "0" "1850" "0" "c.1850G>T" "r.(?)" "p.(Arg617Leu)" "" "0000302341" "00024139" "10" "2141" "17" "2141" "17" "c.2141+17T>C" "r.(=)" "p.(=)" "" "0000302341" "00019422" "10" "2141" "17" "2141" "17" "c.2141+17T>C" "r.(=)" "p.(=)" "" "0000302342" "00024139" "10" "2141" "56" "2141" "56" "c.2141+56dup" "r.(=)" "p.(=)" "" "0000302342" "00019422" "10" "2141" "56" "2141" "56" "c.2141+56dup" "r.(=)" "p.(=)" "" "0000302343" "00024139" "10" "2428" "-95" "2428" "-95" "c.2428-95G>A" "r.(=)" "p.(=)" "" "0000302343" "00019422" "10" "2428" "-95" "2428" "-95" "c.2428-95G>A" "r.(=)" "p.(=)" "" "0000302344" "00024139" "10" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "" "0000302344" "00019422" "10" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "" "0000302345" "00024139" "50" "836" "0" "836" "0" "c.836T>C" "r.(?)" "p.(Phe279Ser)" "" "0000302345" "00019422" "50" "836" "0" "836" "0" "c.836T>C" "r.(?)" "p.(Phe279Ser)" "" "0000302346" "00024139" "30" "862" "128" "862" "128" "c.862+128del" "r.(=)" "p.(=)" "" "0000302346" "00019422" "30" "862" "128" "862" "128" "c.862+128del" "r.(=)" "p.(=)" "" "0000302347" "00024139" "10" "862" "183" "862" "183" "c.862+183G>A" "r.(=)" "p.(=)" "" "0000302347" "00019422" "10" "862" "183" "862" "183" "c.862+183G>A" "r.(=)" "p.(=)" "" "0000302348" "00024139" "10" "901" "0" "901" "0" "c.901C>G" "r.(?)" "p.(Pro301Ala)" "" "0000302348" "00019422" "10" "901" "0" "901" "0" "c.901C>G" "r.(?)" "p.(Pro301Ala)" "" "0000302349" "00024139" "30" "945" "0" "945" "0" "c.945C>G" "r.(?)" "p.(Ser315Arg)" "" "0000302349" "00019422" "30" "945" "0" "945" "0" "c.945C>G" "r.(?)" "p.(Ser315Arg)" "" "0000308596" "00024139" "50" "2114" "0" "2114" "0" "c.2114C>T" "r.(?)" "p.(Thr705Ile)" "" "0000308596" "00019422" "50" "2114" "0" "2114" "0" "c.2114C>T" "r.(?)" "p.(Thr705Ile)" "" "0000308597" "00024139" "30" "448" "0" "448" "0" "c.448G>T" "r.(?)" "p.(Ala150Ser)" "" "0000308597" "00019422" "30" "448" "0" "448" "0" "c.448G>T" "r.(?)" "p.(Ala150Ser)" "" "0000308598" "00024139" "10" "901" "0" "901" "0" "c.901C>G" "r.(?)" "p.(Pro301Ala)" "" "0000308598" "00019422" "10" "901" "0" "901" "0" "c.901C>G" "r.(?)" "p.(Pro301Ala)" "" "0000308599" "00024139" "30" "934" "0" "934" "0" "c.934C>G" "r.(?)" "p.(Pro312Ala)" "" "0000308599" "00019422" "30" "934" "0" "934" "0" "c.934C>G" "r.(?)" "p.(Pro312Ala)" "" "0000337499" "00024139" "10" "-218" "0" "-218" "0" "c.-218C>T" "r.(?)" "p.(=)" "" "0000337499" "00019422" "10" "-368" "0" "-368" "0" "c.-368C>T" "r.(?)" "p.(=)" "" "0000339666" "00024139" "10" "2070" "0" "2070" "0" "c.2070T>C" "r.(?)" "p.(Thr690=)" "" "0000339666" "00019422" "10" "2070" "0" "2070" "0" "c.2070T>C" "r.(?)" "p.(Thr690=)" "" "0000342998" "00024139" "50" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Cys)" "" "0000342998" "00019422" "50" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Cys)" "" "0000345388" "00024139" "10" "1129" "0" "1129" "0" "c.1129G>C" "r.(?)" "p.(Glu377Gln)" "" "0000345388" "00019422" "10" "1129" "0" "1129" "0" "c.1129G>C" "r.(?)" "p.(Glu377Gln)" "" "0000345573" "00024139" "90" "2542" "0" "2542" "0" "c.2542G>T" "r.(?)" "p.(Glu848Ter)" "" "0000345573" "00019422" "90" "2542" "0" "2542" "0" "c.2542G>T" "r.(?)" "p.(Glu848Ter)" "" "0000350743" "00024139" "90" "863" "-2" "863" "-2" "c.863-2A>G" "r.spl?" "p.?" "" "0000350743" "00019422" "90" "863" "-2" "863" "-2" "c.863-2A>G" "r.spl?" "p.?" "" "0000514522" "00024139" "10" "72" "0" "72" "0" "c.72A>G" "r.(?)" "p.(Arg24=)" "" "0000514522" "00019422" "10" "72" "0" "72" "0" "c.72A>G" "r.(?)" "p.(Arg24=)" "" "0000514523" "00024139" "50" "117" "0" "117" "0" "c.117C>T" "r.(?)" "p.(Gly39=)" "" "0000514523" "00019422" "50" "117" "0" "117" "0" "c.117C>T" "r.(?)" "p.(Gly39=)" "" "0000514524" "00024139" "30" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Ala43Thr)" "" "0000514524" "00019422" "30" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Ala43Thr)" "" "0000514525" "00024139" "10" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Ala43Thr)" "" "0000514525" "00019422" "10" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Ala43Thr)" "" "0000514526" "00024139" "30" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Pro46Ser)" "" "0000514526" "00019422" "30" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Pro46Ser)" "" "0000514527" "00024139" "90" "415" "0" "416" "0" "c.415_416del" "r.(?)" "p.(Leu139GlufsTer3)" "" "0000514527" "00019422" "90" "415" "0" "416" "0" "c.415_416del" "r.(?)" "p.(Leu139GlufsTer3)" "" "0000514528" "00024139" "30" "604" "0" "604" "0" "c.604C>A" "r.(?)" "p.(Gln202Lys)" "" "0000514528" "00019422" "30" "604" "0" "604" "0" "c.604C>A" "r.(?)" "p.(Gln202Lys)" "" "0000514529" "00024139" "50" "836" "0" "836" "0" "c.836T>C" "r.(?)" "p.(Phe279Ser)" "" "0000514529" "00019422" "50" "836" "0" "836" "0" "c.836T>C" "r.(?)" "p.(Phe279Ser)" "" "0000514530" "00024139" "50" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Val297Ile)" "" "0000514530" "00019422" "50" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Val297Ile)" "" "0000514532" "00024139" "50" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(Ser309=)" "" "0000514532" "00019422" "50" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(Ser309=)" "" "0000514534" "00024139" "30" "1129" "0" "1129" "0" "c.1129G>C" "r.(?)" "p.(Glu377Gln)" "" "0000514534" "00019422" "30" "1129" "0" "1129" "0" "c.1129G>C" "r.(?)" "p.(Glu377Gln)" "" "0000514535" "00024139" "30" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Thr399Met)" "" "0000514535" "00019422" "30" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Thr399Met)" "" "0000514536" "00024139" "10" "1243" "0" "1243" "0" "c.1243A>G" "r.(?)" "p.(Ser415Gly)" "" "0000514536" "00019422" "10" "1243" "0" "1243" "0" "c.1243A>G" "r.(?)" "p.(Ser415Gly)" "" "0000514537" "00024139" "30" "1271" "0" "1271" "0" "c.1271A>T" "r.(?)" "p.(Asp424Val)" "" "0000514537" "00019422" "30" "1271" "0" "1271" "0" "c.1271A>T" "r.(?)" "p.(Asp424Val)" "" "0000514538" "00024139" "30" "1271" "0" "1271" "0" "c.1271A>T" "r.(?)" "p.(Asp424Val)" "" "0000514538" "00019422" "30" "1271" "0" "1271" "0" "c.1271A>T" "r.(?)" "p.(Asp424Val)" "" "0000514539" "00024139" "70" "1385" "0" "1385" "0" "c.1385T>C" "r.(?)" "p.(Leu462Pro)" "" "0000514539" "00019422" "70" "1385" "0" "1385" "0" "c.1385T>C" "r.(?)" "p.(Leu462Pro)" "" "0000514540" "00024139" "50" "1682" "0" "1682" "0" "c.1682G>A" "r.(?)" "p.(Arg561His)" "" "0000514540" "00019422" "50" "1682" "0" "1682" "0" "c.1682G>A" "r.(?)" "p.(Arg561His)" "" "0000514541" "00024139" "50" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Ala565Val)" "" "0000514541" "00019422" "50" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Ala565Val)" "" "0000514542" "00024139" "30" "1851" "3" "1851" "3" "c.1851+3A>G" "r.spl?" "p.?" "" "0000514542" "00019422" "30" "1851" "3" "1851" "3" "c.1851+3A>G" "r.spl?" "p.?" "" "0000514543" "00024139" "70" "2070" "2" "2070" "2" "c.2070+2dup" "r.spl?" "p.?" "" "0000514543" "00019422" "70" "2070" "2" "2070" "2" "c.2070+2dup" "r.spl?" "p.?" "" "0000514544" "00024139" "50" "2263" "0" "2263" "0" "c.2263A>G" "r.(?)" "p.(Ile755Val)" "" "0000514544" "00019422" "50" "2263" "0" "2263" "0" "c.2263A>G" "r.(?)" "p.(Ile755Val)" "" "0000514545" "00024139" "50" "2644" "0" "2644" "0" "c.2644A>G" "r.(?)" "p.(Ile882Val)" "" "0000514545" "00019422" "50" "2644" "0" "2644" "0" "c.2644A>G" "r.(?)" "p.(Ile882Val)" "" "0000514546" "00024139" "30" "2735" "0" "2735" "0" "c.2735C>T" "r.(?)" "p.(Ser912Leu)" "" "0000514546" "00019422" "30" "2735" "0" "2735" "0" "c.2735C>T" "r.(?)" "p.(Ser912Leu)" "" "0000514547" "00024139" "30" "2838" "0" "2838" "0" "c.2838C>T" "r.(?)" "p.(Asn946=)" "" "0000514547" "00019422" "30" "2838" "0" "2838" "0" "c.2838C>T" "r.(?)" "p.(Asn946=)" "" "0000607477" "00024139" "30" "1251" "0" "1251" "0" "c.1251G>A" "r.(?)" "p.(Thr417=)" "" "0000607477" "00019422" "30" "1251" "0" "1251" "0" "c.1251G>A" "r.(?)" "p.(Thr417=)" "" "0000607478" "00024139" "50" "1851" "5" "1851" "5" "c.1851+5G>A" "r.spl?" "p.?" "" "0000607478" "00019422" "50" "1851" "5" "1851" "5" "c.1851+5G>A" "r.spl?" "p.?" "" "0000650442" "00024139" "50" "423" "0" "423" "0" "c.423T>C" "r.(=)" "p.(=)" "" "0000650442" "00019422" "50" "423" "0" "423" "0" "c.423T>C" "r.(=)" "p.(=)" "" "0000654557" "00024139" "30" "2454" "0" "2454" "0" "c.2454G>A" "r.(?)" "p.(Val818=)" "" "0000654557" "00019422" "30" "2454" "0" "2454" "0" "c.2454G>A" "r.(?)" "p.(Val818=)" "" "0000676501" "00024139" "50" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Ser434Phe)" "" "0000676501" "00019422" "50" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Ser434Phe)" "" "0000718471" "00024139" "30" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Thr399Met)" "" "0000718471" "00019422" "30" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Thr399Met)" "" "0000718472" "00024139" "30" "1271" "0" "1271" "0" "c.1271A>T" "r.(?)" "p.(Asp424Val)" "" "0000718472" "00019422" "30" "1271" "0" "1271" "0" "c.1271A>T" "r.(?)" "p.(Asp424Val)" "" "0000718473" "00024139" "30" "2528" "15" "2528" "15" "c.2528+15G>A" "r.(=)" "p.(=)" "" "0000718473" "00019422" "30" "2528" "15" "2528" "15" "c.2528+15G>A" "r.(=)" "p.(=)" "" "0000800366" "00024139" "30" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Val242Ile)" "" "0000800366" "00019422" "30" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Val242Ile)" "" "0000800367" "00024139" "50" "1786" "0" "1786" "0" "c.1786G>A" "r.(?)" "p.(Ala596Thr)" "" "0000800367" "00019422" "50" "1786" "0" "1786" "0" "c.1786G>A" "r.(?)" "p.(Ala596Thr)" "" "0000800368" "00024139" "30" "2248" "0" "2248" "0" "c.2248G>A" "r.(?)" "p.(Val750Met)" "" "0000800368" "00019422" "30" "2248" "0" "2248" "0" "c.2248G>A" "r.(?)" "p.(Val750Met)" "" "0000831125" "00019422" "70" "670" "0" "670" "0" "c.670C>T" "r.(?)" "p.(Gln224Ter)" "" "0000849709" "00024139" "30" "680" "0" "680" "0" "c.680G>T" "r.(?)" "p.(Gly227Val)" "" "0000849709" "00019422" "30" "680" "0" "680" "0" "c.680G>T" "r.(?)" "p.(Gly227Val)" "" "0000849710" "00024139" "50" "1342" "0" "1342" "0" "c.1342A>G" "r.(?)" "p.(Ile448Val)" "" "0000849710" "00019422" "50" "1342" "0" "1342" "0" "c.1342A>G" "r.(?)" "p.(Ile448Val)" "" "0000849711" "00024139" "90" "2070" "2" "2070" "2" "c.2070+2dup" "r.spl?" "p.?" "" "0000849711" "00019422" "90" "2070" "2" "2070" "2" "c.2070+2dup" "r.spl?" "p.?" "" "0000858311" "00024139" "50" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Pro64Leu)" "" "0000858311" "00019422" "50" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Pro64Leu)" "" "0000858312" "00024139" "30" "603" "0" "603" "0" "c.603G>C" "r.(?)" "p.(Gly201=)" "" "0000858312" "00019422" "30" "603" "0" "603" "0" "c.603G>C" "r.(?)" "p.(Gly201=)" "" "0000858313" "00024139" "30" "1427" "0" "1427" "0" "c.1427G>A" "r.(?)" "p.(Arg476Gln)" "" "0000858313" "00019422" "30" "1427" "0" "1427" "0" "c.1427G>A" "r.(?)" "p.(Arg476Gln)" "" "0000858314" "00024139" "30" "1785" "0" "1785" "0" "c.1785C>T" "r.(?)" "p.(Ile595=)" "" "0000858314" "00019422" "30" "1785" "0" "1785" "0" "c.1785C>T" "r.(?)" "p.(Ile595=)" "" "0000858315" "00024139" "30" "1908" "0" "1908" "0" "c.1908G>A" "r.(?)" "p.(Leu636=)" "" "0000858315" "00019422" "30" "1908" "0" "1908" "0" "c.1908G>A" "r.(?)" "p.(Leu636=)" "" "0000884863" "00024139" "30" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Thr215Met)" "" "0000884863" "00019422" "30" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Thr215Met)" "" "0000884864" "00024139" "30" "828" "0" "828" "0" "c.828G>T" "r.(?)" "p.(Thr276=)" "" "0000884864" "00019422" "30" "828" "0" "828" "0" "c.828G>T" "r.(?)" "p.(Thr276=)" "" "0000884865" "00024139" "30" "1212" "0" "1212" "0" "c.1212G>A" "r.(?)" "p.(Ala404=)" "" "0000884865" "00019422" "30" "1212" "0" "1212" "0" "c.1212G>A" "r.(?)" "p.(Ala404=)" "" "0000884866" "00024139" "30" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Ser434Phe)" "" "0000884866" "00019422" "30" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Ser434Phe)" "" "0000884867" "00024139" "50" "1851" "5" "1851" "5" "c.1851+5G>A" "r.spl?" "p.?" "" "0000884867" "00019422" "50" "1851" "5" "1851" "5" "c.1851+5G>A" "r.spl?" "p.?" "" "0000884868" "00024139" "70" "2070" "2" "2070" "2" "c.2070+2dup" "r.spl?" "p.?" "" "0000884868" "00019422" "70" "2070" "2" "2070" "2" "c.2070+2dup" "r.spl?" "p.?" "" "0000884869" "00024139" "30" "2225" "0" "2225" "0" "c.2225C>T" "r.(?)" "p.(Thr742Met)" "" "0000884869" "00019422" "30" "2225" "0" "2225" "0" "c.2225C>T" "r.(?)" "p.(Thr742Met)" "" "0000884870" "00024139" "30" "2225" "0" "2225" "0" "c.2225C>T" "r.(?)" "p.(Thr742Met)" "" "0000884870" "00019422" "30" "2225" "0" "2225" "0" "c.2225C>T" "r.(?)" "p.(Thr742Met)" "" "0000884871" "00024139" "30" "2226" "0" "2226" "0" "c.2226G>A" "r.(?)" "p.(Thr742=)" "" "0000884871" "00019422" "30" "2226" "0" "2226" "0" "c.2226G>A" "r.(?)" "p.(Thr742=)" "" "0000911573" "00024139" "50" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387Cys)" "" "0000911573" "00019422" "50" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387Cys)" "" "0000911574" "00024139" "30" "1197" "0" "1197" "0" "c.1197G>A" "r.(?)" "p.(Thr399=)" "" "0000911574" "00019422" "30" "1197" "0" "1197" "0" "c.1197G>A" "r.(?)" "p.(Thr399=)" "" "0000911575" "00024139" "30" "2641" "0" "2641" "0" "c.2641A>C" "r.(?)" "p.(Lys881Gln)" "" "0000911575" "00019422" "30" "2641" "0" "2641" "0" "c.2641A>C" "r.(?)" "p.(Lys881Gln)" "" "0000920321" "00019422" "90" "2070" "2" "2070" "2" "c.2070+2dup" "r.[=,1852_2070del]" "p.[=,Met618_Thr690del]" "12" "0000920324" "00019422" "90" "" "0" "" "0" "c.(?_-1)_(862+1_)del" "r.?" "p.?" "2i_4i" "0000920365" "00019422" "70" "2114" "0" "2114" "0" "c.2114C>T" "r.(?)" "p.(Thr705Ile)" "13" "0000923605" "00024139" "30" "-96" "13" "-96" "13" "c.-96+13T>C" "r.(=)" "p.(=)" "" "0000923605" "00019422" "30" "-233" "0" "-233" "0" "c.-233T>C" "r.(?)" "p.(=)" "" "0000923606" "00024139" "90" "1248" "0" "1248" "0" "c.1248dup" "r.(?)" "p.(Thr417Hisfs*11)" "" "0000923606" "00019422" "90" "1248" "0" "1248" "0" "c.1248dup" "r.(?)" "p.(Thr417Hisfs*11)" "" "0000923607" "00024139" "30" "1349" "0" "1349" "0" "c.1349A>G" "r.(?)" "p.(Lys450Arg)" "" "0000923607" "00019422" "30" "1349" "0" "1349" "0" "c.1349A>G" "r.(?)" "p.(Lys450Arg)" "" "0000923608" "00024139" "90" "1687" "0" "1687" "0" "c.1687C>T" "r.(?)" "p.(Arg563*)" "" "0000923608" "00019422" "90" "1687" "0" "1687" "0" "c.1687C>T" "r.(?)" "p.(Arg563*)" "" "0000923609" "00024139" "30" "1995" "0" "1995" "0" "c.1995C>T" "r.(?)" "p.(Ala665=)" "" "0000923609" "00019422" "30" "1995" "0" "1995" "0" "c.1995C>T" "r.(?)" "p.(Ala665=)" "" "0000928516" "00024139" "30" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Thr399Met)" "" "0000928516" "00019422" "30" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Thr399Met)" "" "0000928517" "00024139" "10" "1243" "0" "1243" "0" "c.1243A>G" "r.(?)" "p.(Ser415Gly)" "" "0000928517" "00019422" "10" "1243" "0" "1243" "0" "c.1243A>G" "r.(?)" "p.(Ser415Gly)" "" "0000928518" "00024139" "50" "1851" "5" "1851" "5" "c.1851+5G>A" "r.spl?" "p.?" "" "0000928518" "00019422" "50" "1851" "5" "1851" "5" "c.1851+5G>A" "r.spl?" "p.?" "" "0000947745" "00024139" "50" "2852" "0" "2852" "0" "c.2852C>T" "r.(?)" "p.(Thr951Met)" "" "0000947745" "00019422" "50" "2852" "0" "2852" "0" "c.2852C>T" "r.(?)" "p.(Thr951Met)" "" "0000961883" "00024139" "70" "2114" "0" "2114" "0" "c.2114C>T" "r.(?)" "p.(Thr705Ile)" "" "0000961883" "00019422" "70" "2114" "0" "2114" "0" "c.2114C>T" "r.(?)" "p.(Thr705Ile)" "" "0000972094" "00024139" "70" "1096" "4" "1096" "4" "c.1096+4A>G" "r.spl?" "p.?" "" "0000974958" "00024139" "50" "1334" "0" "1334" "0" "c.1334A>T" "r.(?)" "p.(Asn445Ile)" "" "0000974958" "00019422" "50" "1334" "0" "1334" "0" "c.1334A>T" "r.(?)" "p.(Asn445Ile)" "" "0000974959" "00024139" "30" "2427" "9" "2427" "9" "c.2427+9C>T" "r.(=)" "p.(=)" "" "0000974959" "00019422" "30" "2427" "9" "2427" "9" "c.2427+9C>T" "r.(=)" "p.(=)" "" "0000974960" "00024139" "50" "2820" "0" "2820" "0" "c.2820A>T" "r.(?)" "p.(Arg940Ser)" "" "0000974960" "00019422" "50" "2820" "0" "2820" "0" "c.2820A>T" "r.(?)" "p.(Arg940Ser)" "" "0000974961" "00024139" "50" "2823" "0" "2823" "0" "c.2823del" "r.(?)" "p.(Phe941Leufs*31)" "" "0000974961" "00019422" "50" "2823" "0" "2823" "0" "c.2823del" "r.(?)" "p.(Phe941Leufs*31)" "" "0001032965" "00024139" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(=)" "" "0001032965" "00019422" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(=)" "" "0001032966" "00024139" "30" "1851" "3" "1851" "3" "c.1851+3A>G" "r.spl?" "p.?" "" "0001032966" "00019422" "30" "1851" "3" "1851" "3" "c.1851+3A>G" "r.spl?" "p.?" "" "0001032967" "00024139" "30" "1947" "0" "1947" "0" "c.1947C>T" "r.(?)" "p.(=)" "" "0001032967" "00019422" "30" "1947" "0" "1947" "0" "c.1947C>T" "r.(?)" "p.(=)" "" "0001032968" "00024139" "50" "2686" "0" "2686" "0" "c.2686G>T" "r.(?)" "p.(Asp896Tyr)" "" "0001032968" "00019422" "50" "2686" "0" "2686" "0" "c.2686G>T" "r.(?)" "p.(Asp896Tyr)" "" "0001051065" "00024139" "70" "1934" "0" "1935" "0" "c.1934_1935del" "r.(?)" "p.(Arg645Profs*46)" "" "0001051065" "00019422" "70" "1934" "0" "1935" "0" "c.1934_1935del" "r.(?)" "p.(Arg645Profs*46)" "" "0001051066" "00024139" "70" "2114" "0" "2114" "0" "c.2114C>T" "r.(?)" "p.(Thr705Ile)" "" "0001051066" "00019422" "70" "2114" "0" "2114" "0" "c.2114C>T" "r.(?)" "p.(Thr705Ile)" "" "0001051067" "00024139" "50" "2534" "0" "2534" "0" "c.2534T>A" "r.(?)" "p.(Leu845Gln)" "" "0001051067" "00019422" "50" "2534" "0" "2534" "0" "c.2534T>A" "r.(?)" "p.(Leu845Gln)" "" "0001059189" "00019422" "90" "2459" "0" "2459" "0" "c.2459G>A" "r.(?)" "p.(Arg820His)" "" "0001059190" "00019422" "90" "2542" "0" "2542" "0" "c.2542G>T" "r.(?)" "p.(Glu848Ter)" "" "0001059191" "00019422" "90" "1499" "0" "1499" "0" "c.1499G>A" "r.(?)" "p.(Trp500Ter)" "" "0001063784" "00024139" "50" "1886" "0" "1886" "0" "c.1886A>T" "r.(?)" "p.(Asn629Ile)" "" "0001063784" "00019422" "50" "1886" "0" "1886" "0" "c.1886A>T" "r.(?)" "p.(Asn629Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000064883" "0000096549" "0000293753" "0000650442" "0000398858" "0000831125" "0000434569" "0000920321" "0000434569" "0000920365" "0000434572" "0000920324" "0000450135" "0000972094" "0000471067" "0001059189" "0000471068" "0001059190" "0000471069" "0001059191"