### 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" "2025-11-01 13:22:20" ## 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 = 6 "{{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" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00064743" "01871" "00292585" "00198" "00397620" "06887" "00433138" "05292" "00433141" "05292" "00448545" "00399" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00399, 01871, 05292, 06887 ## Count = 4 "{{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" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{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" "" ## 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 = 110 "{{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" "" ## 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 = 214 "{{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)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000064883" "0000096549" "0000293753" "0000650442" "0000398858" "0000831125" "0000434569" "0000920321" "0000434569" "0000920365" "0000434572" "0000920324" "0000450135" "0000972094"