### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SALL4) # 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}}" "SALL4" "sal-like 4 (Drosophila)" "20" "q13.2" "unknown" "NG_008000.1" "UD_132085226026" "" "https://www.LOVD.nl/SALL4" "" "1" "15924" "57167" "607343" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SALL4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-04-07 12:01:03" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018381" "SALL4" "sal-like 4 (Drosophila)" "001" "NM_020436.3" "" "NP_065169.1" "" "" "" "-101" "3385" "3162" "50419048" "50400581" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "01041" "DRRS" "Duane-radial ray syndrome" "AD" "607323" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01042" "IVIC" "IVIC syndrome" "AD" "147750" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SALL4" "00139" "SALL4" "01041" "SALL4" "01042" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00316171" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "fetus" "" "" "France" "" "0" "" "" "" "K70" "00407630" "" "" "" "2" "" "04178" "" "family, two affected brothers with Duane-radial ray syndrome (Okihiro syndrome)" "M" "?" "Egypt" "" "0" "" "" "" "F1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00316171" "05342" "00407630" "01041" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 01041, 01042, 05342 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000239918" "05342" "00316171" "00006" "Unknown" "" "bilateral multicystic dysplasia" "" "" "" "" "" "" "" "" "bilateral multicystic dysplasia" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000317353" "00316171" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000408882" "00407630" "1" "04178" "04178" "2022-04-07 09:24:23" "04178" "2022-04-07 10:10:56" "SEQ-NG" "DNA" "White blood cells" "WGS followed by Sanger sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000317353" "CHD1L" "0000317353" "NOTCH2" "0000317353" "SALL4" "0000408882" "SALL4" ## 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 = 95 "{{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}}" "0000247994" "0" "10" "20" "50407502" "50407502" "subst" "0.350689" "02325" "SALL4_000015" "g.50407502A>C" "" "" "" "SALL4(NM_020436.3):c.1520T>G (p.L507R), SALL4(NM_020436.5):c.1520T>G (p.L507R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51790963A>C" "" "benign" "" "0000248719" "0" "10" "20" "50408482" "50408482" "subst" "0.996547" "02325" "SALL4_000026" "g.50408482A>G" "" "" "" "SALL4(NM_020436.5):c.540T>C (p.N180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51791943A>G" "" "benign" "" "0000253255" "0" "10" "20" "50407502" "50407502" "subst" "0.350689" "01943" "SALL4_000015" "g.50407502A>C" "" "" "" "SALL4(NM_020436.3):c.1520T>G (p.L507R), SALL4(NM_020436.5):c.1520T>G (p.L507R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51790963A>C" "" "benign" "" "0000254432" "0" "30" "20" "50407774" "50407774" "subst" "0" "01943" "SALL4_000018" "g.50407774A>C" "" "" "" "SALL4(NM_020436.3):c.1248T>G (p.G416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51791235A>C" "" "likely benign" "" "0000256516" "0" "50" "20" "50406732" "50406732" "subst" "0.00421766" "01943" "SALL4_000008" "g.50406732A>G" "" "" "" "SALL4(NM_020436.3):c.2290T>C (p.S764P, p.(Ser764Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51790193A>G" "" "VUS" "" "0000297895" "0" "10" "20" "50407966" "50407966" "subst" "0.246894" "02325" "SALL4_000019" "g.50407966C>T" "" "" "" "SALL4(NM_020436.3):c.1056G>A (p.A352=), SALL4(NM_020436.5):c.1056G>A (p.A352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51791427C>T" "" "benign" "" "0000297896" "0" "30" "20" "50407509" "50407509" "subst" "1.21849E-5" "02325" "SALL4_000016" "g.50407509C>T" "" "" "" "SALL4(NM_020436.5):c.1513G>A (p.G505S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51790970C>T" "" "likely benign" "" "0000297897" "0" "10" "20" "50407162" "50407162" "subst" "0.356567" "02325" "SALL4_000013" "g.50407162T>C" "" "" "" "SALL4(NM_020436.3):c.1860A>G (p.T620=), SALL4(NM_020436.5):c.1860A>G (p.T620=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51790623T>C" "" "benign" "" "0000297898" "0" "10" "20" "50406985" "50406985" "subst" "0.0756961" "02325" "SALL4_000011" "g.50406985G>A" "" "" "" "SALL4(NM_020436.3):c.2037C>T (p.T679=), SALL4(NM_020436.5):c.2037C>T (p.T679=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51790446G>A" "" "benign" "" "0000301642" "0" "30" "20" "50406807" "50406807" "subst" "0.00265683" "02326" "SALL4_000009" "g.50406807C>A" "" "" "" "SALL4(NM_020436.3):c.2215G>T (p.A739S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51790268C>A" "" "likely benign" "" "0000307690" "0" "30" "20" "50418964" "50418964" "subst" "0" "01943" "SALL4_000029" "g.50418964C>T" "" "" "" "SALL4(NM_020436.3):c.-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51802425C>T" "" "likely benign" "" "0000307691" "0" "10" "20" "50407966" "50407966" "subst" "0.246894" "01943" "SALL4_000019" "g.50407966C>T" "" "" "" "SALL4(NM_020436.3):c.1056G>A (p.A352=), SALL4(NM_020436.5):c.1056G>A (p.A352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51791427C>T" "" "benign" "" "0000307692" "0" "10" "20" "50407465" "50407465" "subst" "0.00125152" "01943" "SALL4_000014" "g.50407465G>A" "" "" "" "SALL4(NM_020436.3):c.1557C>T (p.P519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51790926G>A" "" "benign" "" "0000307693" "0" "10" "20" "50407162" "50407162" "subst" "0.356567" "01943" "SALL4_000013" "g.50407162T>C" "" "" "" "SALL4(NM_020436.3):c.1860A>G (p.T620=), SALL4(NM_020436.5):c.1860A>G (p.T620=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51790623T>C" "" "benign" "" "0000307695" "0" "10" "20" "50406985" "50406985" "subst" "0.0756961" "01943" "SALL4_000011" "g.50406985G>A" "" "" "" "SALL4(NM_020436.3):c.2037C>T (p.T679=), SALL4(NM_020436.5):c.2037C>T (p.T679=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51790446G>A" "" "benign" "" "0000307696" "0" "10" "20" "50406630" "50406630" "subst" "0.0472025" "01943" "SALL4_000007" "g.50406630T>G" "" "" "" "SALL4(NM_020436.3):c.2392A>C (p.I798L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51790091T>G" "" "benign" "" "0000307698" "0" "10" "20" "50405502" "50405502" "subst" "0.091907" "01943" "SALL4_000005" "g.50405502C>G" "" "" "" "SALL4(NM_020436.3):c.2640G>C (p.S880=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51788963C>G" "" "benign" "" "0000307700" "0" "90" "20" "50408526" "50408526" "subst" "0" "01943" "SALL4_000027" "g.50408526G>A" "" "" "" "SALL4(NM_020436.3):c.496C>T (p.Q166*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51791987G>A" "" "pathogenic" "" "0000307701" "0" "50" "20" "50408447" "50408447" "subst" "5.68856E-5" "01943" "SALL4_000025" "g.50408447G>T" "" "" "" "SALL4(NM_020436.3):c.575C>A (p.A192E), SALL4(NM_020436.5):c.575C>A (p.A192E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51791908G>T" "" "VUS" "" "0000307702" "0" "10" "20" "50408377" "50408377" "subst" "0.0233371" "01943" "SALL4_000021" "g.50408377G>C" "" "" "" "SALL4(NM_020436.3):c.645C>G (p.L215=), SALL4(NM_020436.5):c.645C>G (p.(Leu215=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51791838G>C" "" "benign" "" "0000307703" "0" "90" "20" "50408365" "50408366" "del" "0" "01943" "SALL4_000020" "g.50408365_50408366del" "" "" "" "SALL4(NM_020436.3):c.659_660delGT (p.C220Sfs*165)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51791826_51791827del" "" "pathogenic" "" "0000328490" "0" "50" "20" "50400808" "50400808" "subst" "4.06095E-6" "01804" "SALL4_000001" "g.50400808C>T" "" "" "" "SALL4(NM_020436.3):c.3158G>A (p.(Ser1053Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51784269C>T" "" "VUS" "" "0000328491" "0" "30" "20" "50400863" "50400863" "subst" "0.00031267" "01804" "SALL4_000003" "g.50400863C>T" "" "" "" "SALL4(NM_020436.3):c.3103G>A (p.(Gly1035Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51784324C>T" "" "likely benign" "" "0000328492" "0" "50" "20" "50401133" "50401133" "subst" "4.06058E-6" "01804" "SALL4_000004" "g.50401133C>T" "" "" "" "SALL4(NM_001318031.2):c.1522G>A (p.D508N), SALL4(NM_020436.3):c.2833G>A (p.(Asp945Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51784594C>T" "" "VUS" "" "0000328493" "0" "30" "20" "50406732" "50406732" "subst" "0.00421766" "01804" "SALL4_000008" "g.50406732A>G" "" "" "" "SALL4(NM_020436.3):c.2290T>C (p.S764P, p.(Ser764Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51790193A>G" "" "likely benign" "" "0000328494" "0" "30" "20" "50406969" "50406971" "del" "0" "01804" "SALL4_000010" "g.50406969_50406971del" "" "" "" "SALL4(NM_020436.3):c.2057_2059del (p.(Asp686del)), SALL4(NM_020436.3):c.2057_2059delATG (p.D686del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51790430_51790432del" "" "likely benign" "" "0000328495" "0" "30" "20" "50407735" "50407735" "subst" "0.00101146" "01804" "SALL4_000017" "g.50407735A>C" "" "" "" "SALL4(NM_020436.3):c.1287T>G (p.F429L, p.(Phe429Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51791196A>C" "" "likely benign" "" "0000328496" "0" "50" "20" "50408395" "50408395" "subst" "0" "01804" "SALL4_000022" "g.50408395G>C" "" "" "" "SALL4(NM_020436.3):c.627C>G (p.(Asn209Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51791856G>C" "" "VUS" "" "0000328497" "0" "50" "20" "50408396" "50408396" "subst" "0" "01804" "SALL4_000023" "g.50408396T>G" "" "" "" "SALL4(NM_020436.3):c.626A>C (p.(Asn209Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51791857T>G" "" "VUS" "" "0000328498" "0" "50" "20" "50408397" "50408397" "subst" "0" "01804" "SALL4_000024" "g.50408397T>A" "" "" "" "SALL4(NM_020436.3):c.625A>T (p.(Asn209Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51791858T>A" "" "VUS" "" "0000340643" "0" "10" "20" "50407966" "50407966" "subst" "0.246894" "02327" "SALL4_000019" "g.50407966C>T" "" "" "" "SALL4(NM_020436.3):c.1056G>A (p.A352=), SALL4(NM_020436.5):c.1056G>A (p.A352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51791427C>T" "" "benign" "" "0000340697" "0" "10" "20" "50408482" "50408482" "subst" "0.996547" "02327" "SALL4_000026" "g.50408482A>G" "" "" "" "SALL4(NM_020436.5):c.540T>C (p.N180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51791943A>G" "" "benign" "" "0000340980" "0" "10" "20" "50405502" "50405502" "subst" "0.091907" "02327" "SALL4_000005" "g.50405502C>G" "" "" "" "SALL4(NM_020436.3):c.2640G>C (p.S880=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51788963C>G" "" "benign" "" "0000341020" "0" "10" "20" "50407162" "50407162" "subst" "0.356567" "02327" "SALL4_000013" "g.50407162T>C" "" "" "" "SALL4(NM_020436.3):c.1860A>G (p.T620=), SALL4(NM_020436.5):c.1860A>G (p.T620=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51790623T>C" "" "benign" "" "0000347199" "0" "10" "20" "50407502" "50407502" "subst" "0.350689" "02327" "SALL4_000015" "g.50407502A>C" "" "" "" "SALL4(NM_020436.3):c.1520T>G (p.L507R), SALL4(NM_020436.5):c.1520T>G (p.L507R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51790963A>C" "" "benign" "" "0000351261" "0" "90" "20" "50408341" "50408342" "ins" "0" "02327" "SALL4_000030" "g.50408341_50408342insGATGT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51791802_51791803insGATGT" "" "pathogenic" "" "0000569967" "0" "30" "20" "50400870" "50400870" "subst" "0.000231451" "01943" "SALL4_000031" "g.50400870A>G" "" "" "" "SALL4(NM_001318031.1):c.1785T>C (p.A595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51784331A>G" "" "likely benign" "" "0000569968" "0" "90" "20" "50405512" "50405519" "dup" "0" "01943" "SALL4_000032" "g.50405512_50405519dup" "" "" "" "SALL4(NM_020436.3):c.2623_2630dupTGTGGGAA (p.K877Nfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51788973_51788980dup" "" "pathogenic" "" "0000569969" "0" "30" "20" "50405659" "50405659" "subst" "0.000460758" "01804" "SALL4_000033" "g.50405659G>A" "" "" "" "SALL4(NM_020436.3):c.2483C>T (p.(Thr828Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51789120G>A" "" "likely benign" "" "0000569970" "0" "90" "20" "50405667" "50405667" "del" "0" "01943" "SALL4_000034" "g.50405667del" "" "" "" "SALL4(NM_020436.3):c.2477delC (p.P826Lfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51789128del" "" "pathogenic" "" "0000569971" "0" "30" "20" "50406573" "50406573" "subst" "6.50058E-5" "01943" "SALL4_000035" "g.50406573T>C" "" "" "" "SALL4(NM_020436.3):c.2449A>G (p.T817A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51790034T>C" "" "likely benign" "" "0000569972" "0" "30" "20" "50406704" "50406704" "subst" "0" "01943" "SALL4_000036" "g.50406704T>C" "" "" "" "SALL4(NM_020436.3):c.2318A>G (p.Q773R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51790165T>C" "" "likely benign" "" "0000569974" "0" "30" "20" "50406807" "50406807" "subst" "0.00265683" "01943" "SALL4_000009" "g.50406807C>A" "" "" "" "SALL4(NM_020436.3):c.2215G>T (p.A739S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51790268C>A" "" "likely benign" "" "0000569975" "0" "10" "20" "50406985" "50406985" "subst" "0.0756961" "02327" "SALL4_000011" "g.50406985G>A" "" "" "" "SALL4(NM_020436.3):c.2037C>T (p.T679=), SALL4(NM_020436.5):c.2037C>T (p.T679=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51790446G>A" "" "benign" "" "0000569976" "0" "90" "20" "50407014" "50407014" "dup" "0" "01943" "SALL4_000038" "g.50407014dup" "" "" "" "SALL4(NM_020436.3):c.2009dupC (p.M671Nfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51790475dup" "" "pathogenic" "" "0000569978" "0" "30" "20" "50408260" "50408260" "subst" "0.000236839" "01943" "SALL4_000040" "g.50408260G>A" "" "" "" "SALL4(NM_001318031.1):c.762C>T (p.A254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51791721G>A" "" "likely benign" "" "0000569979" "0" "90" "20" "50408531" "50408531" "dup" "0" "01943" "SALL4_000041" "g.50408531dup" "" "" "" "SALL4(NM_020436.3):c.496dupC (p.Q166Pfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51791992dup" "" "pathogenic" "" "0000569981" "0" "50" "20" "50408753" "50408753" "subst" "0" "01943" "SALL4_000043" "g.50408753T>C" "" "" "" "SALL4(NM_001318031.1):c.269A>G (p.H90R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51792214T>C" "" "VUS" "" "0000618209" "0" "30" "20" "50400935" "50400935" "subst" "2.84243E-5" "01804" "SALL4_000044" "g.50400935C>T" "" "" "" "SALL4(NM_020436.3):c.3031G>A (p.(Ala1011Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51784396C>T" "" "likely benign" "" "0000618210" "0" "50" "20" "50406762" "50406762" "subst" "0.000101614" "01943" "SALL4_000045" "g.50406762C>T" "" "" "" "SALL4(NM_020436.3):c.2260G>A (p.V754M), SALL4(NM_020436.5):c.2260G>A (p.(Val754Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51790223C>T" "" "VUS" "" "0000618211" "0" "30" "20" "50406969" "50406971" "del" "0" "01943" "SALL4_000010" "g.50406969_50406971del" "" "" "" "SALL4(NM_020436.3):c.2057_2059del (p.(Asp686del)), SALL4(NM_020436.3):c.2057_2059delATG (p.D686del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51790430_51790432del" "" "likely benign" "" "0000618212" "0" "30" "20" "50408320" "50408320" "subst" "0.000273246" "01943" "SALL4_000046" "g.50408320C>T" "" "" "" "SALL4(NM_001318031.1):c.702G>A (p.Q234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51791781C>T" "" "likely benign" "" "0000618213" "0" "30" "20" "50408481" "50408481" "subst" "0.000442701" "01943" "SALL4_000047" "g.50408481C>T" "" "" "" "SALL4(NM_001318031.1):c.541G>A (p.V181M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51791942C>T" "" "likely benign" "" "0000618214" "0" "30" "20" "50408694" "50408694" "subst" "0.000166527" "01943" "SALL4_000048" "g.50408694C>T" "" "" "" "SALL4(NM_001318031.1):c.328G>A (p.V110M, p.(Val110Met)), SALL4(NM_020436.3):c.328G>A (p.V110M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51792155C>T" "" "likely benign" "" "0000681645" "0" "50" "20" "50401133" "50401133" "subst" "4.06058E-6" "02325" "SALL4_000004" "g.50401133C>T" "" "" "" "SALL4(NM_001318031.2):c.1522G>A (p.D508N), SALL4(NM_020436.3):c.2833G>A (p.(Asp945Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681646" "0" "30" "20" "50407072" "50407072" "subst" "0.000882006" "01943" "SALL4_000049" "g.50407072G>A" "" "" "" "SALL4(NM_020436.3):c.1950C>T (p.G650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699944" "0" "70" "20" "50405650" "50405650" "subst" "4.07764E-6" "00006" "SALL4_000050" "g.50405650C>T" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.51789111C>T" "" "VUS" "" "0000727731" "0" "30" "20" "50401201" "50401201" "subst" "2.03037E-5" "01943" "SALL4_000051" "g.50401201G>A" "" "" "" "SALL4(NM_001318031.1):c.1454C>T (p.A485V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727732" "0" "30" "20" "50405649" "50405649" "subst" "0.000407647" "01943" "SALL4_000052" "g.50405649T>C" "" "" "" "SALL4(NM_001318031.1):c.1182A>G (p.R394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727733" "0" "70" "20" "50407221" "50407221" "subst" "0" "01943" "SALL4_000053" "g.50407221G>A" "" "" "" "SALL4(NM_020436.3):c.1801C>T (p.R601*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727734" "0" "10" "20" "50407465" "50407465" "subst" "0.00125152" "02326" "SALL4_000014" "g.50407465G>A" "" "" "" "SALL4(NM_020436.3):c.1557C>T (p.P519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000727735" "0" "50" "20" "50407735" "50407735" "subst" "0.00101146" "01943" "SALL4_000017" "g.50407735A>C" "" "" "" "SALL4(NM_020436.3):c.1287T>G (p.F429L, p.(Phe429Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727736" "0" "30" "20" "50407735" "50407735" "subst" "0.00101146" "02326" "SALL4_000017" "g.50407735A>C" "" "" "" "SALL4(NM_020436.3):c.1287T>G (p.F429L, p.(Phe429Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727737" "0" "90" "20" "50407804" "50407805" "del" "0" "02329" "SALL4_000039" "g.50407804_50407805del" "" "" "" "SALL4(NM_020436.5):c.1223_1224delGA (p.R408Tfs*55)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000809278" "0" "50" "20" "50401063" "50401063" "subst" "4.06062E-6" "02325" "SALL4_000054" "g.50401063A>C" "" "" "" "SALL4(NM_020436.5):c.2903T>G (p.V968G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000845883" "11" "70" "20" "50408529" "50408535" "del" "0" "04178" "SALL4_000055" "g.50408529_50408535del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.51791990_51791996del" "absent" "likely pathogenic" "ACMG" "0000855868" "0" "30" "20" "50408493" "50408493" "subst" "0.000329028" "02326" "SALL4_000056" "g.50408493C>T" "" "" "" "SALL4(NM_020436.3):c.529G>A (p.A177T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855869" "0" "30" "20" "50408707" "50408707" "subst" "0" "01943" "SALL4_000057" "g.50408707G>A" "" "" "" "SALL4(NM_001318031.1):c.315C>T (p.D105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895361" "0" "90" "20" "50405618" "50405618" "del" "0" "02325" "SALL4_000058" "g.50405618del" "" "" "" "SALL4(NM_020436.5):c.2525delC (p.P842Lfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895362" "0" "30" "20" "50406612" "50406612" "subst" "0.000150251" "01804" "SALL4_000059" "g.50406612C>T" "" "" "" "SALL4(NM_020436.3):c.2410G>A (p.(Asp804Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895363" "0" "50" "20" "50407497" "50407497" "subst" "0" "02325" "SALL4_000060" "g.50407497G>C" "" "" "" "SALL4(NM_020436.5):c.1525C>G (p.P509A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895364" "0" "30" "20" "50408694" "50408694" "subst" "0.000166527" "01804" "SALL4_000048" "g.50408694C>T" "" "" "" "SALL4(NM_001318031.1):c.328G>A (p.V110M, p.(Val110Met)), SALL4(NM_020436.3):c.328G>A (p.V110M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895365" "0" "30" "20" "50408694" "50408694" "subst" "0.000166527" "02326" "SALL4_000048" "g.50408694C>T" "" "" "" "SALL4(NM_001318031.1):c.328G>A (p.V110M, p.(Val110Met)), SALL4(NM_020436.3):c.328G>A (p.V110M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915402" "0" "90" "20" "50405651" "50405651" "subst" "0" "02327" "SALL4_000061" "g.50405651G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915403" "0" "30" "20" "50407072" "50407072" "subst" "0.000882006" "02326" "SALL4_000049" "g.50407072G>A" "" "" "" "SALL4(NM_020436.3):c.1950C>T (p.G650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927022" "0" "30" "20" "50408611" "50408611" "subst" "0.000113741" "02325" "SALL4_000062" "g.50408611G>C" "" "" "" "SALL4(NM_020436.5):c.411C>G (p.G137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931183" "0" "30" "20" "50418829" "50418829" "subst" "1.77253E-5" "01804" "SALL4_000063" "g.50418829G>A" "" "" "" "SALL4(NM_001318031.1):c.119C>T (p.(Ala40Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951449" "0" "50" "20" "50407244" "50407244" "subst" "4.06058E-6" "02325" "SALL4_000064" "g.50407244G>A" "" "" "" "SALL4(NM_020436.5):c.1778C>T (p.P593L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951450" "0" "50" "20" "50408447" "50408447" "subst" "5.68856E-5" "02325" "SALL4_000025" "g.50408447G>T" "" "" "" "SALL4(NM_020436.3):c.575C>A (p.A192E), SALL4(NM_020436.5):c.575C>A (p.A192E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951451" "0" "10" "20" "50408614" "50408614" "subst" "0.00281075" "02326" "SALL4_000065" "g.50408614A>G" "" "" "" "SALL4(NM_020436.3):c.408T>C (p.N136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000970183" "0" "30" "20" "50408673" "50408673" "subst" "0.00172207" "02326" "SALL4_000042" "g.50408673C>T" "" "" "" "SALL4(NM_020436.3):c.349G>A (p.G117R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983842" "0" "30" "20" "50406984" "50406984" "subst" "0.000402459" "01804" "SALL4_000067" "g.50406984C>T" "" "" "" "SALL4(NM_020436.5):c.2038G>A (p.(Gly680Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983843" "0" "30" "20" "50408806" "50408806" "subst" "6.94456E-5" "01804" "SALL4_000068" "g.50408806G>A" "" "" "" "SALL4(NM_020436.5):c.216C>T (p.(His72=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005464" "0" "30" "20" "50401036" "50401036" "subst" "2.03031E-5" "01804" "SALL4_000069" "g.50401036T>C" "" "" "" "SALL4(NM_020436.3):c.2930A>G (p.(Asn977Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005465" "0" "50" "20" "50406966" "50406966" "subst" "4.06646E-6" "01804" "SALL4_000070" "g.50406966C>T" "" "" "" "SALL4(NM_020436.3):c.2056G>A (p.(Asp686Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005466" "0" "30" "20" "50407042" "50407042" "subst" "0" "01804" "SALL4_000071" "g.50407042C>A" "" "" "" "SALL4(NM_020436.3):c.1980G>T (p.(Glu660Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005467" "0" "30" "20" "50408027" "50408027" "subst" "0" "01804" "SALL4_000072" "g.50408027C>T" "" "" "" "SALL4(NM_020436.3):c.995G>A (p.(Ser332Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005468" "0" "50" "20" "50408231" "50408231" "subst" "0" "01804" "SALL4_000073" "g.50408231A>C" "" "" "" "SALL4(NM_020436.3):c.791T>G (p.(Met264Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005469" "0" "50" "20" "50408463" "50408463" "subst" "1.21879E-5" "01804" "SALL4_000074" "g.50408463G>A" "" "" "" "SALL4(NM_020436.3):c.559C>T (p.(Arg187Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005470" "0" "50" "20" "50408699" "50408699" "subst" "0" "01804" "SALL4_000075" "g.50408699C>T" "" "" "" "SALL4(NM_020436.3):c.323G>A (p.(Gly108Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005471" "0" "30" "20" "50408715" "50408715" "subst" "1.21839E-5" "01804" "SALL4_000076" "g.50408715T>C" "" "" "" "SALL4(NM_020436.3):c.307A>G (p.(Met103Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005472" "0" "50" "20" "50408888" "50408888" "subst" "0" "01804" "SALL4_000077" "g.50408888G>C" "" "" "" "SALL4(NM_020436.3):c.134C>G (p.(Ala45Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043419" "0" "30" "20" "50406754" "50406754" "subst" "0.000402491" "01804" "SALL4_000078" "g.50406754G>A" "" "" "" "SALL4(NM_020436.5):c.2268C>T (p.(Ser756=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043420" "0" "30" "20" "50406762" "50406762" "subst" "0.000101614" "01804" "SALL4_000045" "g.50406762C>T" "" "" "" "SALL4(NM_020436.3):c.2260G>A (p.V754M), SALL4(NM_020436.5):c.2260G>A (p.(Val754Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043421" "0" "30" "20" "50408377" "50408377" "subst" "0.0233371" "01804" "SALL4_000021" "g.50408377G>C" "" "" "" "SALL4(NM_020436.3):c.645C>G (p.L215=), SALL4(NM_020436.5):c.645C>G (p.(Leu215=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SALL4 ## Count = 95 "{{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}}" "0000247994" "00018381" "10" "1520" "0" "1520" "0" "c.1520T>G" "r.(?)" "p.(Leu507Arg)" "" "0000248719" "00018381" "10" "540" "0" "540" "0" "c.540T>C" "r.(?)" "p.(Asn180=)" "" "0000253255" "00018381" "10" "1520" "0" "1520" "0" "c.1520T>G" "r.(?)" "p.(Leu507Arg)" "" "0000254432" "00018381" "30" "1248" "0" "1248" "0" "c.1248T>G" "r.(?)" "p.(Gly416=)" "" "0000256516" "00018381" "50" "2290" "0" "2290" "0" "c.2290T>C" "r.(?)" "p.(Ser764Pro)" "" "0000297895" "00018381" "10" "1056" "0" "1056" "0" "c.1056G>A" "r.(?)" "p.(Ala352=)" "" "0000297896" "00018381" "30" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Gly505Ser)" "" "0000297897" "00018381" "10" "1860" "0" "1860" "0" "c.1860A>G" "r.(?)" "p.(Thr620=)" "" "0000297898" "00018381" "10" "2037" "0" "2037" "0" "c.2037C>T" "r.(?)" "p.(Thr679=)" "" "0000301642" "00018381" "30" "2215" "0" "2215" "0" "c.2215G>T" "r.(?)" "p.(Ala739Ser)" "" "0000307690" "00018381" "30" "-17" "0" "-17" "0" "c.-17G>A" "r.(?)" "p.(=)" "" "0000307691" "00018381" "10" "1056" "0" "1056" "0" "c.1056G>A" "r.(?)" "p.(Ala352=)" "" "0000307692" "00018381" "10" "1557" "0" "1557" "0" "c.1557C>T" "r.(?)" "p.(Pro519=)" "" "0000307693" "00018381" "10" "1860" "0" "1860" "0" "c.1860A>G" "r.(?)" "p.(Thr620=)" "" "0000307695" "00018381" "10" "2037" "0" "2037" "0" "c.2037C>T" "r.(?)" "p.(Thr679=)" "" "0000307696" "00018381" "10" "2392" "0" "2392" "0" "c.2392A>C" "r.(?)" "p.(Ile798Leu)" "" "0000307698" "00018381" "10" "2640" "0" "2640" "0" "c.2640G>C" "r.(?)" "p.(Ser880=)" "" "0000307700" "00018381" "90" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Gln166Ter)" "" "0000307701" "00018381" "50" "575" "0" "575" "0" "c.575C>A" "r.(?)" "p.(Ala192Glu)" "" "0000307702" "00018381" "10" "645" "0" "645" "0" "c.645C>G" "r.(?)" "p.(Leu215=)" "" "0000307703" "00018381" "90" "659" "0" "660" "0" "c.659_660del" "r.(?)" "p.(Cys220SerfsTer165)" "" "0000328490" "00018381" "50" "3158" "0" "3158" "0" "c.3158G>A" "r.(?)" "p.(Ser1053Asn)" "" "0000328491" "00018381" "30" "3103" "0" "3103" "0" "c.3103G>A" "r.(?)" "p.(Gly1035Ser)" "" "0000328492" "00018381" "50" "2833" "0" "2833" "0" "c.2833G>A" "r.(?)" "p.(Asp945Asn)" "" "0000328493" "00018381" "30" "2290" "0" "2290" "0" "c.2290T>C" "r.(?)" "p.(Ser764Pro)" "" "0000328494" "00018381" "30" "2057" "0" "2059" "0" "c.2057_2059del" "r.(?)" "p.(Asp686del)" "" "0000328495" "00018381" "30" "1287" "0" "1287" "0" "c.1287T>G" "r.(?)" "p.(Phe429Leu)" "" "0000328496" "00018381" "50" "627" "0" "627" "0" "c.627C>G" "r.(?)" "p.(Asn209Lys)" "" "0000328497" "00018381" "50" "626" "0" "626" "0" "c.626A>C" "r.(?)" "p.(Asn209Thr)" "" "0000328498" "00018381" "50" "625" "0" "625" "0" "c.625A>T" "r.(?)" "p.(Asn209Tyr)" "" "0000340643" "00018381" "10" "1056" "0" "1056" "0" "c.1056G>A" "r.(?)" "p.(Ala352=)" "" "0000340697" "00018381" "10" "540" "0" "540" "0" "c.540T>C" "r.(?)" "p.(Asn180=)" "" "0000340980" "00018381" "10" "2640" "0" "2640" "0" "c.2640G>C" "r.(?)" "p.(Ser880=)" "" "0000341020" "00018381" "10" "1860" "0" "1860" "0" "c.1860A>G" "r.(?)" "p.(Thr620=)" "" "0000347199" "00018381" "10" "1520" "0" "1520" "0" "c.1520T>G" "r.(?)" "p.(Leu507Arg)" "" "0000351261" "00018381" "90" "680" "0" "681" "0" "c.680_681insACATC" "r.(?)" "p.(Gln228HisfsTer14)" "" "0000569967" "00018381" "30" "3096" "0" "3096" "0" "c.3096T>C" "r.(?)" "p.(Ala1032=)" "" "0000569968" "00018381" "90" "2623" "0" "2630" "0" "c.2623_2630dup" "r.(?)" "p.(Lys877AsnfsTer40)" "" "0000569969" "00018381" "30" "2483" "0" "2483" "0" "c.2483C>T" "r.(?)" "p.(Thr828Met)" "" "0000569970" "00018381" "90" "2477" "0" "2477" "0" "c.2477del" "r.(?)" "p.(Pro826LeufsTer30)" "" "0000569971" "00018381" "30" "2449" "0" "2449" "0" "c.2449A>G" "r.(?)" "p.(Thr817Ala)" "" "0000569972" "00018381" "30" "2318" "0" "2318" "0" "c.2318A>G" "r.(?)" "p.(Gln773Arg)" "" "0000569974" "00018381" "30" "2215" "0" "2215" "0" "c.2215G>T" "r.(?)" "p.(Ala739Ser)" "" "0000569975" "00018381" "10" "2037" "0" "2037" "0" "c.2037C>T" "r.(?)" "p.(Thr679=)" "" "0000569976" "00018381" "90" "2009" "0" "2009" "0" "c.2009dup" "r.(?)" "p.(Met671AsnfsTer5)" "" "0000569978" "00018381" "30" "762" "0" "762" "0" "c.762C>T" "r.(?)" "p.(Ala254=)" "" "0000569979" "00018381" "90" "496" "0" "496" "0" "c.496dup" "r.(?)" "p.(Gln166ProfsTer15)" "" "0000569981" "00018381" "50" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(His90Arg)" "" "0000618209" "00018381" "30" "3031" "0" "3031" "0" "c.3031G>A" "r.(?)" "p.(Ala1011Thr)" "" "0000618210" "00018381" "50" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Val754Met)" "" "0000618211" "00018381" "30" "2057" "0" "2059" "0" "c.2057_2059del" "r.(?)" "p.(Asp686del)" "" "0000618212" "00018381" "30" "702" "0" "702" "0" "c.702G>A" "r.(?)" "p.(Gln234=)" "" "0000618213" "00018381" "30" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Val181Met)" "" "0000618214" "00018381" "30" "328" "0" "328" "0" "c.328G>A" "r.(?)" "p.(Val110Met)" "" "0000681645" "00018381" "50" "2833" "0" "2833" "0" "c.2833G>A" "r.(?)" "p.(Asp945Asn)" "" "0000681646" "00018381" "30" "1950" "0" "1950" "0" "c.1950C>T" "r.(?)" "p.(Gly650=)" "" "0000699944" "00018381" "70" "2492" "0" "2492" "0" "c.2492G>A" "r.(?)" "p.(Arg831Gln)" "" "0000727731" "00018381" "30" "2765" "0" "2765" "0" "c.2765C>T" "r.(?)" "p.(Ala922Val)" "" "0000727732" "00018381" "30" "2493" "0" "2493" "0" "c.2493A>G" "r.(?)" "p.(Arg831=)" "" "0000727733" "00018381" "70" "1801" "0" "1801" "0" "c.1801C>T" "r.(?)" "p.(Arg601*)" "" "0000727734" "00018381" "10" "1557" "0" "1557" "0" "c.1557C>T" "r.(?)" "p.(Pro519=)" "" "0000727735" "00018381" "50" "1287" "0" "1287" "0" "c.1287T>G" "r.(?)" "p.(Phe429Leu)" "" "0000727736" "00018381" "30" "1287" "0" "1287" "0" "c.1287T>G" "r.(?)" "p.(Phe429Leu)" "" "0000727737" "00018381" "90" "1223" "0" "1224" "0" "c.1223_1224del" "r.(?)" "p.(Arg408ThrfsTer55)" "" "0000809278" "00018381" "50" "2903" "0" "2903" "0" "c.2903T>G" "r.(?)" "p.(Val968Gly)" "" "0000845883" "00018381" "70" "491" "0" "497" "0" "c.491_497del" "r.(?)" "p.(Thr164Argfs*3)" "" "0000855868" "00018381" "30" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "" "0000855869" "00018381" "30" "315" "0" "315" "0" "c.315C>T" "r.(?)" "p.(Asp105=)" "" "0000895361" "00018381" "90" "2525" "0" "2525" "0" "c.2525del" "r.(?)" "p.(Pro842Leufs*14)" "" "0000895362" "00018381" "30" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(Asp804Asn)" "" "0000895363" "00018381" "50" "1525" "0" "1525" "0" "c.1525C>G" "r.(?)" "p.(Pro509Ala)" "" "0000895364" "00018381" "30" "328" "0" "328" "0" "c.328G>A" "r.(?)" "p.(Val110Met)" "" "0000895365" "00018381" "30" "328" "0" "328" "0" "c.328G>A" "r.(?)" "p.(Val110Met)" "" "0000915402" "00018381" "90" "2491" "0" "2491" "0" "c.2491C>T" "r.(?)" "p.(Arg831*)" "" "0000915403" "00018381" "30" "1950" "0" "1950" "0" "c.1950C>T" "r.(?)" "p.(Gly650=)" "" "0000927022" "00018381" "30" "411" "0" "411" "0" "c.411C>G" "r.(?)" "p.(Gly137=)" "" "0000931183" "00018381" "30" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Ala40Val)" "" "0000951449" "00018381" "50" "1778" "0" "1778" "0" "c.1778C>T" "r.(?)" "p.(Pro593Leu)" "" "0000951450" "00018381" "50" "575" "0" "575" "0" "c.575C>A" "r.(?)" "p.(Ala192Glu)" "" "0000951451" "00018381" "10" "408" "0" "408" "0" "c.408T>C" "r.(?)" "p.(=)" "" "0000970183" "00018381" "30" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Gly117Arg)" "" "0000983842" "00018381" "30" "2038" "0" "2038" "0" "c.2038G>A" "r.(?)" "p.(Gly680Ser)" "" "0000983843" "00018381" "30" "216" "0" "216" "0" "c.216C>T" "r.(?)" "p.(=)" "" "0001005464" "00018381" "30" "2930" "0" "2930" "0" "c.2930A>G" "r.(?)" "p.(Asn977Ser)" "" "0001005465" "00018381" "50" "2056" "0" "2056" "0" "c.2056G>A" "r.(?)" "p.(Asp686Asn)" "" "0001005466" "00018381" "30" "1980" "0" "1980" "0" "c.1980G>T" "r.(?)" "p.(Glu660Asp)" "" "0001005467" "00018381" "30" "995" "0" "995" "0" "c.995G>A" "r.(?)" "p.(Ser332Asn)" "" "0001005468" "00018381" "50" "791" "0" "791" "0" "c.791T>G" "r.(?)" "p.(Met264Arg)" "" "0001005469" "00018381" "50" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Arg187Trp)" "" "0001005470" "00018381" "50" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Gly108Glu)" "" "0001005471" "00018381" "30" "307" "0" "307" "0" "c.307A>G" "r.(?)" "p.(Met103Val)" "" "0001005472" "00018381" "50" "134" "0" "134" "0" "c.134C>G" "r.(?)" "p.(Ala45Gly)" "" "0001043419" "00018381" "30" "2268" "0" "2268" "0" "c.2268C>T" "r.(?)" "p.(=)" "" "0001043420" "00018381" "30" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Val754Met)" "" "0001043421" "00018381" "30" "645" "0" "645" "0" "c.645C>G" "r.(?)" "p.(Leu215=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000317353" "0000699944" "0000408882" "0000845883"