### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SALL1) # 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}}" "SALL1" "sal-like 1 (Drosophila)" "16" "q12.1" "unknown" "NG_007990.1" "UD_132084452447" "" "https://www.LOVD.nl/SALL1" "" "1" "10524" "6299" "602218" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SALL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-08-01 10:51:29" "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}}" "00018378" "SALL1" "transcript variant 1" "001" "NM_002968.2" "" "NP_002959.2" "" "" "" "-31" "5112" "3975" "51185183" "51169886" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00472" "OAS" "oculo-auricular syndrome (OAS)" "" "612109" "" "" "" "00006" "2014-07-24 08:43:38" "00006" "2015-12-07 07:11:25" "00719" "TBS" "Townes-Brocks syndrome (TBS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05298" "TBS1" "Townes-Brocks syndrome, type 1 (TBS1)" "AD" "107480" "" "" "" "00006" "2017-06-29 16:20:13" "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}}" "SALL1" "00139" "SALL1" "00719" "SALL1" "05298" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00164430" "" "" "" "1" "" "01807" "" "" "?" "" "(Germany)" "" "0" "" "" "" "" "00291486" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00316170" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "fetus" "" "" "France" "" "0" "" "" "" "K69" "00408819" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "1 patient" "M" "no" "Mexico" "" "0" "" "none" "" "EFAV_156" "00408820" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "4 patients (4 male)" "M" "no" "Mexico" "" "" "" "none" "" "EFAV_45" "00408821" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "5 patients (3 male, 2 female)" "F" "likely" "Mexico" "" "" "" "none" "" "EFAV_107" "00408822" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "1 patient" "M" "no" "Mexico" "" "0" "" "none" "" "EFAV_129" "00408823" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "1 patient" "M" "no" "Mexico" "" "0" "" "none" "" "EFAV_96" "00408824" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "49 patients (31 male, 18 female)" "M" "no" "Mexico" "" "" "" "none" "" "EFAV_96" "00408825" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "1 patient" "M" "no" "Mexico" "" "0" "" "none" "" "EFAV_135" "00408989" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "41 patients (26 male, 15 female)" "F" "likely" "Mexico" "" "" "" "none" "" "EFAV_102" "00441464" "" "" "00441463" "2" "" "00006" "{PMID:Yang 2021:33478437}" "affected daughter" "F" "" "China" "" "0" "" "" "China-S;Wuling Mountains" "FamPatIII3" "00441465" "" "" "00441463" "1" "" "00006" "{PMID:Yang 2021:33478437}" "father" "M" "" "China" "" "0" "" "" "China-S;Wuling Mountains" "FamPatII4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00164430" "00198" "00291486" "00198" "00316170" "05342" "00408819" "00472" "00408820" "00472" "00408821" "00472" "00408822" "00472" "00408823" "00472" "00408824" "00472" "00408825" "00472" "00408989" "00472" "00441464" "00719" "00441465" "00719" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00472, 00719, 05298, 05342 ## Count = 12 "{{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}}" "0000129489" "00198" "00164430" "01807" "Unknown" "" "Omphalocele (HP:0001539); Triphalangeal thumb (HP:0001199)" "" "" "" "" "" "" "" "" "" "" "" "0000239917" "05342" "00316170" "00006" "Unknown" "" "bilateral multicystic dysplasia" "" "" "" "" "" "" "" "" "" "bilateral multicystic dysplasia" "" "0000300938" "00472" "00408819" "04221" "Familial" "06y" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), Vertebral clefting (HP:0008428)" "" "" "" "SALL1" "" "" "" "" "OAVS" "Microtia" "" "0000300939" "00472" "00408820" "04221" "Unknown" "06y11m" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), ossicular chain abnormality (HPO:004452), conductive hearing impairment (HPO:0000405), supernumerary ribs (HPO:0005815)" "" "" "" "SALL1" "" "" "" "" "OAVS" "Microtia" "" "0000300940" "00472" "00408821" "04221" "Familial" "10y" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), Vertebral clefting (HP:0008428)" "" "" "" "SALL1" "" "" "" "" "OAVS" "Microtia" "" "0000300941" "00472" "00408822" "04221" "Unknown" "02y" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413),conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), hemifacial hypoplasia (HPO:0011332)" "" "" "" "SALL1" "" "" "" "" "OAVS" "Microtia" "" "0000300942" "00472" "00408823" "04221" "Unknown" "" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452)." "" "06y11m" "" "SALL1" "" "" "" "" "OAVS" "Microtia" "" "0000300943" "00472" "00408824" "04221" "Unknown" "" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452)." "" "06y11m" "" "SALL1" "" "" "" "" "OAVS" "Microtia" "" "0000300944" "00472" "00408825" "04221" "Unknown" "02y09m" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), hemifacial hypoplasia (HPO:0011332)." "" "" "" "SALL1" "" "" "" "" "OAVS" "Microtia" "" "0000301107" "00472" "00408989" "04221" "Unknown" "05y08m" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), sensorineural hearing impairment (HPO:0000407), renal hypoplasia (HPO:0008678)" "" "" "" "SALL1" "" "" "" "" "OAVS" "Microtia" "" "0000330904" "00719" "00441464" "00006" "Familial, autosomal dominant" "00y02m" "congenital anal atresia, rectal perineal fistula, ventricular septal defect, patent ductus arteriosus, pulmonary hypertension, finger deformities" "" "" "" "" "" "" "" "" "tbs" "Townes-Brocks syndrome" "" "0000330905" "00719" "00441465" "00006" "Familial, autosomal dominant" "" "external ear deformity, deafness, toe deformities, pulmonary hypertension, normal anus" "" "" "" "" "" "" "" "" "TBS" "Townes-Brocks syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000165297" "00164430" "1" "01807" "01807" "2018-05-17 16:07:10" "" "" "SEQ" "DNA" "" "" "0000292654" "00291486" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000317352" "00316170" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000410084" "00408819" "1" "04221" "04221" "2022-04-28 18:12:11" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000410085" "00408820" "1" "04221" "04221" "2022-04-28 18:29:02" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000410086" "00408821" "1" "04221" "04221" "2022-04-28 18:42:04" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000410087" "00408822" "1" "04221" "04221" "2022-04-28 18:57:51" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000410088" "00408823" "1" "04221" "04221" "2022-04-28 19:06:06" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000410089" "00408824" "1" "04221" "04221" "2022-04-28 19:16:03" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000410090" "00408825" "1" "04221" "04221" "2022-04-28 19:22:16" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000410254" "00408989" "1" "04221" "04221" "2022-04-29 19:01:20" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000442950" "00441464" "1" "00006" "00006" "2023-11-07 19:52:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442951" "00441465" "1" "00006" "00006" "2023-11-07 19:57:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{geneid}}" "0000317352" "SALL1" "0000410084" "EYA1" "0000410084" "HOXA2" "0000410084" "SALL1" "0000410084" "TBX1" "0000410084" "TCOF1" "0000410085" "EYA1" "0000410085" "HOXA2" "0000410085" "SALL1" "0000410085" "TBX1" "0000410085" "TCOF1" "0000410086" "EYA1" "0000410086" "HOXA2" "0000410086" "SALL1" "0000410086" "TBX1" "0000410086" "TCOF1" "0000410087" "EYA1" "0000410087" "HOXA2" "0000410087" "SALL1" "0000410087" "TBX1" "0000410087" "TCOF1" "0000410088" "EYA1" "0000410088" "HOXA2" "0000410088" "SALL1" "0000410088" "TBX1" "0000410088" "TCOF1" "0000410089" "EYA1" "0000410089" "HOXA2" "0000410089" "SALL1" "0000410089" "TBX1" "0000410089" "TCOF1" "0000410090" "EYA1" "0000410090" "HOXA2" "0000410090" "SALL1" "0000410090" "TBX1" "0000410090" "TCOF1" "0000410254" "EYA1" "0000410254" "HOXA2" "0000410254" "SALL1" "0000410254" "TBX1" "0000410254" "TCOF1" ## 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 = 165 "{{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}}" "0000297893" "0" "10" "16" "51173559" "51173559" "subst" "0.626762" "02325" "SALL1_000016" "g.51173559G>A" "" "" "" "SALL1(NM_001127892.2):c.2283C>T (p.L761=), SALL1(NM_002968.2):c.2574C>T (p.L858=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139648G>A" "" "benign" "" "0000297894" "0" "10" "16" "51171175" "51171175" "subst" "0.997125" "02325" "SALL1_000005" "g.51171175C>T" "" "" "" "SALL1(NM_001127892.2):c.3532G>A (p.V1178I), SALL1(NM_002968.2):c.3823G>A (p.V1275I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137264C>T" "" "benign" "" "0000301636" "0" "10" "16" "51173559" "51173559" "subst" "0.626762" "02326" "SALL1_000016" "g.51173559G>A" "" "" "" "SALL1(NM_001127892.2):c.2283C>T (p.L761=), SALL1(NM_002968.2):c.2574C>T (p.L858=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139648G>A" "" "benign" "" "0000301637" "0" "30" "16" "51175898" "51175898" "subst" "0.00508608" "02326" "SALL1_000048" "g.51175898C>G" "" "" "" "SALL1(NM_001127892.1):c.-57G>C (p.(=)), SALL1(NM_002968.2):c.235G>C (p.A79P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141987C>G" "" "likely benign" "" "0000301638" "0" "10" "16" "51171175" "51171175" "subst" "0.997125" "02326" "SALL1_000005" "g.51171175C>T" "" "" "" "SALL1(NM_001127892.2):c.3532G>A (p.V1178I), SALL1(NM_002968.2):c.3823G>A (p.V1275I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137264C>T" "" "benign" "" "0000301639" "0" "10" "16" "51171126" "51171126" "subst" "0.0102827" "02326" "SALL1_000004" "g.51171126T>C" "" "" "" "SALL1(NM_001127892.1):c.3581A>G (p.(Asn1194Ser)), SALL1(NM_002968.2):c.3872A>G (p.N1291S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137215T>C" "" "benign" "" "0000307652" "0" "90" "16" "51175005" "51175005" "del" "0" "01943" "SALL1_000030" "g.51175005del" "" "" "" "SALL1(NM_002968.2):c.1128delA (p.A377Lfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141094del" "" "pathogenic" "" "0000307653" "0" "90" "16" "51174835" "51174844" "del" "0" "01943" "SALL1_000026" "g.51174835_51174844del" "" "" "" "SALL1(NM_002968.2):c.1292_1301delCAAATGTCAC (p.P431Lfs*59)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51140924_51140933del" "" "pathogenic" "" "0000307654" "0" "90" "16" "51174740" "51174740" "subst" "0" "01943" "SALL1_000025" "g.51174740G>A" "" "" "" "SALL1(NM_002968.2):c.1393C>T (p.Q465*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51140829G>A" "" "pathogenic" "" "0000307656" "0" "90" "16" "51174620" "51174620" "subst" "0" "01943" "SALL1_000023" "g.51174620G>T" "" "" "" "SALL1(NM_002968.2):c.1513C>A (p.H505N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51140709G>T" "" "pathogenic" "" "0000307657" "0" "90" "16" "51174300" "51174313" "del" "0" "01943" "SALL1_000021" "g.51174300_51174313del" "" "" "" "SALL1(NM_002968.2):c.1821_1834delGCTCCCAGAGGAAG (p.L608Rfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51140389_51140402del" "" "pathogenic" "" "0000307658" "0" "10" "16" "51175683" "51175685" "del" "0" "01943" "SALL1_000040" "g.51175683_51175685del" "" "" "" "SALL1(NM_001127892.1):c.184_186del (p.(Ser62del)), SALL1(NM_002968.2):c.475_477delAGC (p.S159del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141772_51141774del" "" "benign" "" "0000307660" "0" "90" "16" "51175927" "51175927" "del" "0" "01943" "SALL1_000049" "g.51175927del" "" "" "" "SALL1(NM_002968.2):c.207delA (p.Q69Hfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51142016del" "" "pathogenic" "" "0000307661" "0" "10" "16" "51173955" "51173955" "subst" "0.0141065" "01943" "SALL1_000020" "g.51173955C>T" "" "" "" "SALL1(NM_002968.2):c.2178G>A (p.R726=), SALL1(NM_002968.3):c.2178G>A (p.(Arg726=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51140044C>T" "" "benign" "" "0000307662" "0" "50" "16" "51173858" "51173858" "subst" "8.93328E-5" "01943" "SALL1_000019" "g.51173858T>C" "" "" "" "SALL1(NM_002968.2):c.2275A>G (p.M759V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139947T>C" "" "VUS" "" "0000307663" "0" "10" "16" "51173559" "51173559" "subst" "0.626762" "01943" "SALL1_000016" "g.51173559G>A" "" "" "" "SALL1(NM_001127892.2):c.2283C>T (p.L761=), SALL1(NM_002968.2):c.2574C>T (p.L858=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139648G>A" "" "benign" "" "0000307664" "0" "10" "16" "51173790" "51173790" "subst" "0.0125674" "01943" "SALL1_000018" "g.51173790C>G" "" "" "" "SALL1(NM_002968.2):c.2343G>C (p.L781=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139879C>G" "" "benign" "" "0000307665" "0" "10" "16" "51173589" "51173589" "subst" "0.0092264" "01943" "SALL1_000017" "g.51173589T>C" "" "" "" "SALL1(NM_002968.2):c.2544A>G (p.Q848=), SALL1(NM_002968.3):c.2544A>G (p.(Gln848=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139678T>C" "" "benign" "" "0000307666" "0" "90" "16" "51173231" "51173231" "del" "0" "01943" "SALL1_000014" "g.51173231del" "" "" "" "SALL1(NM_002968.2):c.2905delG (p.A969Lfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139320del" "" "pathogenic" "" "0000307667" "0" "10" "16" "51175841" "51175841" "subst" "0.00111693" "01943" "SALL1_000047" "g.51175841T>C" "" "" "" "SALL1(NM_002968.2):c.292A>G (p.M98V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141930T>C" "" "benign" "" "0000307668" "0" "30" "16" "51172823" "51172823" "subst" "0.000483249" "01943" "SALL1_000012" "g.51172823G>C" "" "" "" "SALL1(NM_001127892.1):c.3019C>G (p.P1007A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51138912G>C" "" "likely benign" "" "0000307669" "0" "10" "16" "51172911" "51172911" "subst" "0.001799" "01943" "SALL1_000013" "g.51172911C>T" "" "" "" "SALL1(NM_002968.2):c.3222G>A (p.A1074=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139000C>T" "" "benign" "" "0000307670" "0" "10" "16" "51172677" "51172677" "subst" "0.183977" "01943" "SALL1_000011" "g.51172677G>A" "" "" "" "SALL1(NM_002968.2):c.3456C>T (p.H1152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51138766G>A" "" "benign" "" "0000307671" "0" "50" "16" "51171367" "51171367" "subst" "7.32303E-5" "01943" "SALL1_000010" "g.51171367C>T" "" "" "" "SALL1(NM_001127892.1):c.3340G>A (p.V1114I), SALL1(NM_002968.3):c.3631G>A (p.V1211I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137456C>T" "" "VUS" "" "0000307672" "0" "50" "16" "51171071" "51171071" "subst" "1.21825E-5" "01943" "SALL1_000002" "g.51171071G>T" "" "" "" "SALL1(NM_001127892.1):c.3636C>A (p.F1212L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137160G>T" "" "VUS" "" "0000307673" "0" "50" "16" "51171333" "51171333" "subst" "8.12341E-5" "01943" "SALL1_000009" "g.51171333G>A" "" "" "" "SALL1(NM_002968.2):c.3665C>T (p.A1222V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137422G>A" "" "VUS" "" "0000307675" "0" "10" "16" "51171126" "51171126" "subst" "0.0102827" "01943" "SALL1_000004" "g.51171126T>C" "" "" "" "SALL1(NM_001127892.1):c.3581A>G (p.(Asn1194Ser)), SALL1(NM_002968.2):c.3872A>G (p.N1291S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137215T>C" "" "benign" "" "0000307676" "0" "30" "16" "51171083" "51171083" "subst" "0.00130758" "01943" "SALL1_000003" "g.51171083G>A" "" "" "" "SALL1(NM_001127892.1):c.3624C>T (p.N1208=), SALL1(NM_002968.2):c.3915C>T (p.N1305=), SALL1(NM_002968.3):c.3915C>T (p.(Asn1305=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137172G>A" "" "likely benign" "" "0000307677" "0" "10" "16" "51175658" "51175658" "subst" "0" "01943" "SALL1_000043" "g.51175658T>C" "" "" "" "SALL1(NM_002968.2):c.475A>G (p.S159G, p.(Ser159Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141747T>C" "" "benign" "" "0000307678" "0" "10" "16" "51185050" "51185051" "del" "0" "01943" "SALL1_000050" "g.51185050_51185051del" "" "" "" "SALL1(NM_002968.2):c.76+36_76+37delAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51151139_51151140del" "" "benign" "" "0000307679" "0" "50" "16" "51175346" "51175346" "subst" "9.34018E-5" "01943" "SALL1_000034" "g.51175346C>A" "" "" "" "SALL1(NM_001127892.1):c.496G>T (p.(Asp166Tyr)), SALL1(NM_002968.2):c.787G>T (p.D263Y), SALL1(NM_002968.3):c.787G>T (p.D263Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141435C>A" "" "VUS" "" "0000307680" "0" "10" "16" "51175324" "51175324" "subst" "0.00152292" "01943" "SALL1_000033" "g.51175324G>A" "" "" "" "SALL1(NM_001127892.1):c.518C>T (p.(Pro173Leu)), SALL1(NM_002968.2):c.809C>T (p.P270L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141413G>A" "" "benign" "" "0000307681" "0" "50" "16" "51175219" "51175219" "subst" "4.06078E-6" "01943" "SALL1_000032" "g.51175219C>T" "" "" "" "SALL1(NM_002968.2):c.914G>A (p.S305N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141308C>T" "" "VUS" "" "0000307682" "0" "90" "16" "51175176" "51175176" "del" "0" "01943" "SALL1_000031" "g.51175176del" "" "" "" "SALL1(NM_002968.2):c.958delC (p.Q320Sfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141265del" "" "pathogenic" "" "0000324761" "0" "30" "16" "51171126" "51171126" "subst" "0.0102827" "01804" "SALL1_000004" "g.51171126T>C" "" "" "" "SALL1(NM_001127892.1):c.3581A>G (p.(Asn1194Ser)), SALL1(NM_002968.2):c.3872A>G (p.N1291S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137215T>C" "" "likely benign" "" "0000324762" "0" "30" "16" "51171204" "51171204" "subst" "0.00144963" "01804" "SALL1_000007" "g.51171204C>T" "" "" "" "SALL1(NM_001127892.1):c.3503G>A (p.G1168E, p.(Gly1168Glu)), SALL1(NM_002968.2):c.3794G>A (p.G1265E), SALL1(NM_002968.3):c.3794G>A (p.G1265E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137293C>T" "" "likely benign" "" "0000324763" "0" "50" "16" "51171226" "51171226" "subst" "2.03037E-5" "01804" "SALL1_000008" "g.51171226C>T" "" "" "" "SALL1(NM_001127892.1):c.3481G>A (p.(Gly1161Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137315C>T" "" "VUS" "" "0000324764" "0" "50" "16" "51173317" "51173317" "subst" "1.21887E-5" "01804" "SALL1_000015" "g.51173317T>C" "" "" "" "SALL1(NM_001127892.1):c.2525A>G (p.(His842Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139406T>C" "" "VUS" "" "0000324765" "0" "50" "16" "51174598" "51174598" "subst" "0" "01804" "SALL1_000022" "g.51174598G>A" "" "" "" "SALL1(NM_001127892.1):c.1244C>T (p.(Pro415Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51140687G>A" "" "VUS" "" "0000324766" "0" "50" "16" "51174833" "51174833" "subst" "2.03029E-5" "01804" "SALL1_000027" "g.51174833T>C" "" "" "" "SALL1(NM_001127892.1):c.1009A>G (p.(Thr337Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51140922T>C" "" "VUS" "" "0000324767" "0" "30" "16" "51174876" "51174876" "subst" "1.21818E-5" "01804" "SALL1_000028" "g.51174876C>A" "" "" "" "SALL1(NM_001127892.1):c.966G>T (p.(Leu322Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51140965C>A" "" "likely benign" "" "0000324768" "0" "30" "16" "51175655" "51175655" "subst" "0" "01804" "SALL1_000037" "g.51175655C>T" "" "" "" "SALL1(NM_001127892.1):c.187G>A (p.(Gly63Ser)), SALL1(NM_002968.2):c.478G>A (p.G160S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141744C>T" "" "likely benign" "" "0000324769" "0" "50" "16" "51175677" "51175685" "dup" "0" "01804" "SALL1_000038" "g.51175677_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.186_187insAGCAGCAGC (p.(Ser60_Ser62dup)), SALL1(NM_001127892.2):c.172_180dupAGCAGCAGC (p.S60_S62dup), SALL1(NM_002968.2):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141766_51141774dup" "" "VUS" "" "0000324770" "0" "30" "16" "51175657" "51175658" "ins" "0" "01804" "SALL1_000039" "g.51175657_51175658insCGCTGC" "" "" "" "SALL1(NM_001127892.1):c.184_185insGCAGCG (p.(Ser62_Gly63insSerGly)), SALL1(NM_001127892.2):c.186_187insAGCGGC (p.S62_G63insSG)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141746_51141747insCGCTGC" "" "likely benign" "" "0000324771" "0" "30" "16" "51175683" "51175685" "del" "0" "01804" "SALL1_000040" "g.51175683_51175685del" "" "" "" "SALL1(NM_001127892.1):c.184_186del (p.(Ser62del)), SALL1(NM_002968.2):c.475_477delAGC (p.S159del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141772_51141774del" "" "likely benign" "" "0000324772" "0" "30" "16" "51175677" "51175685" "del" "0" "01804" "SALL1_000041" "g.51175677_51175685del" "" "" "" "SALL1(NM_001127892.1):c.178_186del (p.(Ser60_Ser62del)), SALL1(NM_001127892.2):c.178_186delAGCAGCAGC (p.S60_S62del), SALL1(NM_002968.2):c.469_477de..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141766_51141774del" "" "likely benign" "" "0000324774" "0" "50" "16" "51175661" "51175661" "subst" "0" "01804" "SALL1_000044" "g.51175661T>C" "" "" "" "SALL1(NM_001127892.1):c.181A>G (p.(Ser61Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141750T>C" "" "VUS" "" "0000324776" "0" "50" "16" "51175744" "51175744" "subst" "0.00023148" "01804" "SALL1_000046" "g.51175744G>A" "" "" "" "SALL1(NM_001127892.1):c.98C>T (p.(Pro33Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141833G>A" "" "VUS" "" "0000324777" "0" "30" "16" "51175898" "51175898" "subst" "0.00508608" "01804" "SALL1_000048" "g.51175898C>G" "" "" "" "SALL1(NM_001127892.1):c.-57G>C (p.(=)), SALL1(NM_002968.2):c.235G>C (p.A79P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51141987C>G" "" "likely benign" "" "0000340224" "0" "10" "16" "51172677" "51172677" "subst" "0.183977" "02327" "SALL1_000011" "g.51172677G>A" "" "" "" "SALL1(NM_002968.2):c.3456C>T (p.H1152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51138766G>A" "" "benign" "" "0000340866" "0" "10" "16" "51173559" "51173559" "subst" "0.626762" "02327" "SALL1_000016" "g.51173559G>A" "" "" "" "SALL1(NM_001127892.2):c.2283C>T (p.L761=), SALL1(NM_002968.2):c.2574C>T (p.L858=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51139648G>A" "" "benign" "" "0000350264" "0" "10" "16" "51171175" "51171175" "subst" "0.997125" "02327" "SALL1_000005" "g.51171175C>T" "" "" "" "SALL1(NM_001127892.2):c.3532G>A (p.V1178I), SALL1(NM_002968.2):c.3823G>A (p.V1275I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51137264C>T" "" "benign" "" "0000368956" "0" "70" "16" "51172696" "51172696" "subst" "0" "01807" "SALL1_000052" "g.51172696G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.51138785G>T" "" "likely pathogenic" "" "0000558373" "0" "10" "16" "51170940" "51170944" "dup" "0" "01943" "SALL1_000053" "g.51170940_51170944dup" "" "" "" "SALL1(NM_002968.2):c.*88_*92dupGCCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51137029_51137033dup" "" "benign" "" "0000558375" "0" "50" "16" "51171204" "51171204" "subst" "0.00144963" "01943" "SALL1_000007" "g.51171204C>T" "" "" "" "SALL1(NM_001127892.1):c.3503G>A (p.G1168E, p.(Gly1168Glu)), SALL1(NM_002968.2):c.3794G>A (p.G1265E), SALL1(NM_002968.3):c.3794G>A (p.G1265E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51137293C>T" "" "VUS" "" "0000558376" "0" "50" "16" "51171324" "51171324" "subst" "0" "02327" "SALL1_000054" "g.51171324G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51137413G>C" "" "VUS" "" "0000558377" "0" "50" "16" "51172802" "51172802" "subst" "0" "01943" "SALL1_000055" "g.51172802C>T" "" "" "" "SALL1(NM_002968.2):c.3331G>A (p.G1111R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51138891C>T" "" "VUS" "" "0000558378" "0" "30" "16" "51173514" "51173514" "subst" "1.62529E-5" "01804" "SALL1_000056" "g.51173514G>C" "" "" "" "SALL1(NM_001127892.1):c.2328C>G (p.(Ile776Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51139603G>C" "" "likely benign" "" "0000558380" "0" "30" "16" "51173622" "51173622" "subst" "2.43635E-5" "01943" "SALL1_000058" "g.51173622G>T" "" "" "" "SALL1(NM_001127892.1):c.2220C>A (p.I740=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51139711G>T" "" "likely benign" "" "0000558381" "0" "30" "16" "51174167" "51174167" "subst" "0" "01943" "SALL1_000059" "g.51174167T>C" "" "" "" "SALL1(NM_001127892.1):c.1675A>G (p.T559A), SALL1(NM_002968.2):c.1966A>G (p.(Thr656Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140256T>C" "" "likely benign" "" "0000558382" "0" "30" "16" "51174226" "51174226" "subst" "0.000110007" "01804" "SALL1_000060" "g.51174226G>A" "" "" "" "SALL1(NM_001127892.1):c.1616C>T (p.(Thr539Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140315G>A" "" "likely benign" "" "0000558383" "0" "30" "16" "51174229" "51174229" "subst" "0.0033163" "01943" "SALL1_000061" "g.51174229G>A" "" "" "" "SALL1(NM_001127892.1):c.1613C>T (p.P538L), SALL1(NM_002968.3):c.1904C>T (p.(Pro635Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140318G>A" "" "likely benign" "" "0000558384" "0" "30" "16" "51174229" "51174229" "subst" "0.0033163" "01804" "SALL1_000061" "g.51174229G>A" "" "" "" "SALL1(NM_001127892.1):c.1613C>T (p.P538L), SALL1(NM_002968.3):c.1904C>T (p.(Pro635Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140318G>A" "" "likely benign" "" "0000558385" "0" "30" "16" "51174255" "51174255" "subst" "0.00404903" "01943" "SALL1_000062" "g.51174255C>G" "" "" "" "SALL1(NM_001127892.1):c.1587G>C (p.(Glu529Asp)), SALL1(NM_002968.2):c.1878G>C (p.E626D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140344C>G" "" "likely benign" "" "0000558386" "0" "30" "16" "51174255" "51174255" "subst" "0.00404903" "01804" "SALL1_000062" "g.51174255C>G" "" "" "" "SALL1(NM_001127892.1):c.1587G>C (p.(Glu529Asp)), SALL1(NM_002968.2):c.1878G>C (p.E626D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140344C>G" "" "likely benign" "" "0000558387" "0" "50" "16" "51174410" "51174410" "subst" "0" "01804" "SALL1_000063" "g.51174410G>A" "" "" "" "SALL1(NM_002968.2):c.1723C>T (p.(Pro575Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140499G>A" "" "VUS" "" "0000558389" "0" "90" "16" "51174647" "51174647" "dup" "0" "01943" "SALL1_000065" "g.51174647dup" "" "" "" "SALL1(NM_002968.2):c.1488dupT (p.Q497Sfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140736dup" "" "pathogenic" "" "0000558390" "0" "30" "16" "51174811" "51174811" "subst" "0.000337026" "01804" "SALL1_000066" "g.51174811G>T" "" "" "" "SALL1(NM_001127892.1):c.1031C>A (p.(Thr344Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140900G>T" "" "likely benign" "" "0000558391" "0" "50" "16" "51174898" "51174898" "subst" "0" "02325" "SALL1_000067" "g.51174898G>A" "" "" "" "SALL1(NM_001127892.2):c.944C>T (p.T315I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51140987G>A" "" "VUS" "" "0000558392" "0" "90" "16" "51175021" "51175021" "subst" "0" "01943" "SALL1_000068" "g.51175021G>C" "" "" "" "SALL1(NM_002968.2):c.1112C>G (p.S371*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141110G>C" "" "pathogenic" "" "0000558393" "0" "50" "16" "51175084" "51175084" "subst" "0" "01943" "SALL1_000069" "g.51175084G>T" "" "" "" "SALL1(NM_001127892.1):c.758C>A (p.T253N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141173G>T" "" "VUS" "" "0000558394" "0" "50" "16" "51175288" "51175288" "subst" "0" "01804" "SALL1_000070" "g.51175288A>C" "" "" "" "SALL1(NM_001127892.1):c.554T>G (p.(Leu185Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141377A>C" "" "VUS" "" "0000558395" "0" "90" "16" "51175307" "51175307" "subst" "0" "01943" "SALL1_000071" "g.51175307G>A" "" "" "" "SALL1(NM_002968.2):c.826C>T (p.R276*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141396G>A" "" "pathogenic" "" "0000558396" "0" "30" "16" "51175324" "51175324" "subst" "0.00152292" "01804" "SALL1_000033" "g.51175324G>A" "" "" "" "SALL1(NM_001127892.1):c.518C>T (p.(Pro173Leu)), SALL1(NM_002968.2):c.809C>T (p.P270L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141413G>A" "" "likely benign" "" "0000558397" "0" "30" "16" "51175596" "51175596" "subst" "0.0012388" "01943" "SALL1_000072" "g.51175596G>A" "" "" "" "SALL1(NM_001127892.1):c.246C>T (p.L82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141685G>A" "" "likely benign" "" "0000558399" "0" "50" "16" "51175655" "51175657" "dup" "0" "02325" "SALL1_000074" "g.51175655_51175657dup" "" "" "" "SALL1(NM_001127892.2):c.196_198dupGGC (p.G66dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141744_51141746dup" "" "VUS" "" "0000558404" "0" "30" "16" "51175677" "51175685" "del" "0" "01943" "SALL1_000041" "g.51175677_51175685del" "" "" "" "SALL1(NM_001127892.1):c.178_186del (p.(Ser60_Ser62del)), SALL1(NM_001127892.2):c.178_186delAGCAGCAGC (p.S60_S62del), SALL1(NM_002968.2):c.469_477de..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141766_51141774del" "" "likely benign" "" "0000558405" "0" "30" "16" "51175677" "51175685" "del" "0" "02325" "SALL1_000041" "g.51175677_51175685del" "" "" "" "SALL1(NM_001127892.1):c.178_186del (p.(Ser60_Ser62del)), SALL1(NM_001127892.2):c.178_186delAGCAGCAGC (p.S60_S62del), SALL1(NM_002968.2):c.469_477de..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141766_51141774del" "" "likely benign" "" "0000558406" "0" "10" "16" "51175677" "51175685" "dup" "0" "02325" "SALL1_000038" "g.51175677_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.186_187insAGCAGCAGC (p.(Ser60_Ser62dup)), SALL1(NM_001127892.2):c.172_180dupAGCAGCAGC (p.S60_S62dup), SALL1(NM_002968.2):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141766_51141774dup" "" "benign" "" "0000558407" "0" "30" "16" "51175677" "51175685" "dup" "0" "02326" "SALL1_000038" "g.51175677_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.186_187insAGCAGCAGC (p.(Ser60_Ser62dup)), SALL1(NM_001127892.2):c.172_180dupAGCAGCAGC (p.S60_S62dup), SALL1(NM_002968.2):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141766_51141774dup" "" "likely benign" "" "0000558409" "0" "10" "16" "51175680" "51175685" "dup" "0" "01943" "SALL1_000079" "g.51175680_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.181_186dupAGCAGC (p.S61_S62dup), SALL1(NM_001127892.1):c.183_184insAGCAGC (p.(Ser61_Ser62dup)), SALL1(NM_002968.2):c.466_47..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141769_51141774dup" "" "benign" "" "0000558410" "0" "10" "16" "51175683" "51175685" "dup" "0" "01943" "SALL1_000080" "g.51175683_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.178_180dup (p.(Ser62dup)), SALL1(NM_001127892.2):c.184_186dupAGC (p.S62dup), SALL1(NM_002968.2):c.475_477dupAGC (p.S159dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141772_51141774dup" "" "benign" "" "0000558411" "0" "10" "16" "51175683" "51175685" "dup" "0" "02325" "SALL1_000080" "g.51175683_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.178_180dup (p.(Ser62dup)), SALL1(NM_001127892.2):c.184_186dupAGC (p.S62dup), SALL1(NM_002968.2):c.475_477dupAGC (p.S159dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141772_51141774dup" "" "benign" "" "0000558412" "0" "10" "16" "51175683" "51175685" "dup" "0" "02326" "SALL1_000080" "g.51175683_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.178_180dup (p.(Ser62dup)), SALL1(NM_001127892.2):c.184_186dupAGC (p.S62dup), SALL1(NM_002968.2):c.475_477dupAGC (p.S159dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141772_51141774dup" "" "benign" "" "0000558413" "0" "30" "16" "51175722" "51175722" "subst" "0.0004022" "01943" "SALL1_000081" "g.51175722G>A" "" "" "" "SALL1(NM_001127892.1):c.120C>T (p.S40=), SALL1(NM_002968.2):c.411C>T (p.S137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141811G>A" "" "likely benign" "" "0000616026" "0" "50" "16" "51173795" "51173795" "subst" "0" "01943" "SALL1_000082" "g.51173795C>A" "" "" "" "SALL1(NM_002968.2):c.2338G>T (p.V780F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51139884C>A" "" "VUS" "" "0000616027" "0" "30" "16" "51173801" "51173801" "subst" "8.12117E-6" "01804" "SALL1_000083" "g.51173801C>T" "" "" "" "SALL1(NM_001127892.1):c.2041G>A (p.(Ala681Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51139890C>T" "" "likely benign" "" "0000616028" "0" "50" "16" "51175542" "51175542" "subst" "2.43643E-5" "02327" "SALL1_000084" "g.51175542G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141631G>A" "" "VUS" "" "0000616029" "0" "30" "16" "51175657" "51175658" "ins" "0" "02325" "SALL1_000039" "g.51175657_51175658insCGCTGC" "" "" "" "SALL1(NM_001127892.1):c.184_185insGCAGCG (p.(Ser62_Gly63insSerGly)), SALL1(NM_001127892.2):c.186_187insAGCGGC (p.S62_G63insSG)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141746_51141747insCGCTGC" "" "likely benign" "" "0000616030" "0" "30" "16" "51175683" "51175685" "dup" "0" "01804" "SALL1_000080" "g.51175683_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.178_180dup (p.(Ser62dup)), SALL1(NM_001127892.2):c.184_186dupAGC (p.S62dup), SALL1(NM_002968.2):c.475_477dupAGC (p.S159dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141772_51141774dup" "" "likely benign" "" "0000616031" "0" "90" "16" "51175693" "51175693" "dup" "0" "02327" "SALL1_000085" "g.51175693dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141782dup" "" "pathogenic" "" "0000616032" "0" "30" "16" "51176004" "51176004" "subst" "0.000549513" "01943" "SALL1_000086" "g.51176004G>A" "" "" "" "SALL1(NM_002968.2):c.129C>T (p.H43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51142093G>A" "" "likely benign" "" "0000649343" "1" "30" "16" "51171204" "51171204" "subst" "0.00144963" "03575" "SALL1_000007" "g.51171204C>T" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs149302006}" "Germline" "" "rs149302006" "0" "" "" "g.51137293C>T" "" "likely benign" "" "0000657866" "0" "10" "16" "51175743" "51175743" "subst" "0.00912081" "01943" "SALL1_000087" "g.51175743C>T" "" "" "" "SALL1(NM_002968.2):c.390G>A (p.P130=), SALL1(NM_002968.3):c.390G>A (p.(Pro130=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141832C>T" "" "benign" "" "0000657867" "0" "30" "16" "51175894" "51175894" "subst" "3.25005E-5" "01804" "SALL1_000088" "g.51175894G>T" "" "" "" "SALL1(NM_001127892.1):c.-53C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51141983G>T" "" "likely benign" "" "0000680594" "0" "50" "16" "51171081" "51171081" "subst" "0" "01943" "SALL1_000089" "g.51171081C>T" "" "" "" "SALL1(NM_001127892.1):c.3626G>A (p.G1209E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692082" "0" "30" "16" "51171204" "51171204" "subst" "0.00144963" "02325" "SALL1_000007" "g.51171204C>T" "" "" "" "SALL1(NM_001127892.1):c.3503G>A (p.G1168E, p.(Gly1168Glu)), SALL1(NM_002968.2):c.3794G>A (p.G1265E), SALL1(NM_002968.3):c.3794G>A (p.G1265E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692083" "0" "30" "16" "51175346" "51175346" "subst" "9.34018E-5" "01804" "SALL1_000034" "g.51175346C>A" "" "" "" "SALL1(NM_001127892.1):c.496G>T (p.(Asp166Tyr)), SALL1(NM_002968.2):c.787G>T (p.D263Y), SALL1(NM_002968.3):c.787G>T (p.D263Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692084" "0" "30" "16" "51175680" "51175685" "dup" "0" "02326" "SALL1_000079" "g.51175680_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.181_186dupAGCAGC (p.S61_S62dup), SALL1(NM_001127892.1):c.183_184insAGCAGC (p.(Ser61_Ser62dup)), SALL1(NM_002968.2):c.466_47..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692085" "0" "10" "16" "51175680" "51175685" "dup" "0" "02325" "SALL1_000079" "g.51175680_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.181_186dupAGCAGC (p.S61_S62dup), SALL1(NM_001127892.1):c.183_184insAGCAGC (p.(Ser61_Ser62dup)), SALL1(NM_002968.2):c.466_47..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692086" "0" "30" "16" "51176024" "51176024" "subst" "8.1487E-6" "01943" "SALL1_000090" "g.51176024T>A" "" "" "" "SALL1(NM_002968.2):c.109A>T (p.T37S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699876" "0" "70" "16" "51171227" "51171227" "subst" "0" "00006" "SALL1_000091" "g.51171227G>C" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.51137316G>C" "" "VUS" "" "0000725829" "0" "30" "16" "51171367" "51171367" "subst" "7.32303E-5" "02325" "SALL1_000010" "g.51171367C>T" "" "" "" "SALL1(NM_001127892.1):c.3340G>A (p.V1114I), SALL1(NM_002968.3):c.3631G>A (p.V1211I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725830" "0" "30" "16" "51175677" "51175685" "del" "0" "02326" "SALL1_000041" "g.51175677_51175685del" "" "" "" "SALL1(NM_001127892.1):c.178_186del (p.(Ser60_Ser62del)), SALL1(NM_001127892.2):c.178_186delAGCAGCAGC (p.S60_S62del), SALL1(NM_002968.2):c.469_477de..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725831" "0" "30" "16" "51175913" "51175913" "subst" "0.000162554" "01943" "SALL1_000092" "g.51175913C>T" "" "" "" "SALL1(NM_002968.2):c.220G>A (p.V74I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807437" "0" "50" "16" "51171055" "51171055" "subst" "1.21839E-5" "01943" "SALL1_000093" "g.51171055C>T" "" "" "" "SALL1(NM_001127892.1):c.3652G>A (p.V1218M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807438" "0" "50" "16" "51175852" "51175852" "subst" "0" "01943" "SALL1_000094" "g.51175852G>A" "" "" "" "SALL1(NM_002968.2):c.281C>T (p.P94L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000847333" "11" "10" "16" "51175723" "51175734" "dup" "0" "04221" "SALL1_000096" "g.51175723_51175734dup" "1/49 patients" "{PMID:Estandia-Ortega 2022:36362878}" "" "" "ACMG BS1, BS2, PP3" "Germline" "no" "rs750817837" "0" "" "" "g.51141812_51141823dup" "" "benign (dominant)" "ACMG" "0000847334" "1" "10" "16" "51175658" "51175658" "subst" "0" "04221" "SALL1_000043" "g.51175658T>C" "4/49 patients (4 heterozygous)" "{PMID:Estandia-Ortega 2022:36362878}" "" "" "ACMG BA1, BP1, BP4, BP6" "Germline/De novo (untested)" "?" "rs13336129" "0" "" "" "g.51141747T>C" "VCV000258875.3" "benign" "ACMG" "0000847335" "1" "10" "16" "51175656" "51175658" "del" "0" "04221" "SALL1_000040" "g.51175656_51175658del" "5/49 patients (5 heterozygous)" "{PMID:Estandia-Ortega 2022:36362878}" "" "" "ACMG BS1, BS2, PP3" "Germline" "no" "rs113614842" "0" "" "" "g.51141772_51141774del" "" "benign (dominant)" "ACMG" "0000847336" "1" "30" "16" "51173329" "51173329" "subst" "3.65583E-5" "04221" "SALL1_000095" "g.51173329G>A" "1/49 patients" "{PMID:Estandia-Ortega 2022:36362878}" "CviAII+, FatI+, HpyCH4V+, NlaIII+, NspI+, SphI+" "" "ACMG BS1, BS2, BP1, BP4" "Germline/De novo (untested)" "" "rs755926434" "0" "" "" "g.51139418G>A" "" "likely benign" "ACMG" "0000847337" "1" "10" "16" "51171204" "51171204" "subst" "0.00144963" "04221" "SALL1_000007" "g.51171204C>T" "1/49 patients" "{PMID:Estandia-Ortega 2022:36362878}" "Hpy188III+, BslI-, BstNI-, PflMI-, PspGI-, ScrFI-, StyD4I-" "" "ACMG BS1, BS2, BP1, BP6, PP3" "Germline/De novo (untested)" "?" "rs149302006" "0" "" "" "g.51137293C>T" "VCV000288122.8" "benign" "ACMG" "0000847338" "3" "10" "16" "51171175" "51171175" "subst" "0.997125" "04221" "SALL1_000005" "g.51171175C>T" "49/49 patients" "{PMID:Estandia-Ortega 2022:36362878}" "" "" "ACMG/AMP criteria: BA1." "Germline" "?" "rs4614723" "0" "" "" "g.51137264C>T" "VCV000258871.9" "benign" "ACMG" "0000847339" "0" "10" "16" "51171126" "51171126" "subst" "0.0102827" "04221" "SALL1_000004" "g.51171126T>C" "1/49 patients" "{PMID:Estandia-Ortega 2022:36362878}" "BmrI+, BsiHKAI+, BsrI+, BtsIMutI+, TspRI+" "" "ACMG BS1, BS2, BP1, BP4, BP6" "Germline/De novo (untested)" "" "rs74499562" "0" "" "" "g.51137215T>C" "VCV000218510.10" "benign" "ACMG" "0000847530" "3" "10" "16" "51173559" "51173559" "subst" "0.626762" "04221" "SALL1_000016" "g.51173559G>A" "41/49 patients (18 heterozygous, 23 homozygous)" "" "BpuEI+, AvaI-, BsoBI-, Hpy188III-, PaeR7I-, XhoI-" "" "" "Germline/De novo (untested)" "?" "rs1965024" "0" "" "" "g.51139648G>A" "VCV000258866.12" "benign" "ACMG" "0000854538" "0" "30" "16" "51175584" "51175584" "subst" "6.49804E-5" "01943" "SALL1_000097" "g.51175584T>C" "" "" "" "SALL1(NM_001127892.1):c.258A>G (p.T86=), SALL1(NM_002968.3):c.549A>G (p.(Thr183=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854539" "0" "10" "16" "51175683" "51175685" "del" "0" "02326" "SALL1_000040" "g.51175683_51175685del" "" "" "" "SALL1(NM_001127892.1):c.184_186del (p.(Ser62del)), SALL1(NM_002968.2):c.475_477delAGC (p.S159del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854540" "0" "30" "16" "51175722" "51175722" "subst" "0.0004022" "02326" "SALL1_000081" "g.51175722G>A" "" "" "" "SALL1(NM_001127892.1):c.120C>T (p.S40=), SALL1(NM_002968.2):c.411C>T (p.S137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864828" "0" "30" "16" "51175754" "51175754" "subst" "0.00228628" "01804" "SALL1_000098" "g.51175754C>G" "" "" "" "SALL1(NM_001127892.1):c.88G>C (p.(Val30Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893039" "0" "30" "16" "51171034" "51171034" "subst" "8.93612E-5" "02326" "SALL1_000099" "g.51171034C>T" "" "" "" "SALL1(NM_002968.2):c.3964G>A (p.V1322I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893040" "0" "50" "16" "51173949" "51173949" "subst" "0" "02325" "SALL1_000100" "g.51173949G>T" "" "" "" "SALL1(NM_002968.3):c.2184C>A (p.H728Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893041" "0" "50" "16" "51175680" "51175685" "del" "0" "01804" "SALL1_000101" "g.51175680_51175685del" "" "" "" "SALL1(NM_001127892.1):c.181_186del (p.(Ser61_Ser62del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893042" "0" "30" "16" "51175680" "51175685" "dup" "0" "01804" "SALL1_000079" "g.51175680_51175685dup" "" "" "" "SALL1(NM_001127892.1):c.181_186dupAGCAGC (p.S61_S62dup), SALL1(NM_001127892.1):c.183_184insAGCAGC (p.(Ser61_Ser62dup)), SALL1(NM_002968.2):c.466_47..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893043" "0" "90" "16" "51175769" "51175769" "subst" "0" "02327" "SALL1_000102" "g.51175769C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914639" "0" "30" "16" "51175655" "51175655" "subst" "0" "02326" "SALL1_000037" "g.51175655C>T" "" "" "" "SALL1(NM_001127892.1):c.187G>A (p.(Gly63Ser)), SALL1(NM_002968.2):c.478G>A (p.G160S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926300" "0" "50" "16" "51174253" "51174254" "ins" "0" "02325" "SALL1_000103" "g.51174253_51174254insGAC" "" "" "" "SALL1(NM_002968.3):c.1881_1882insCGT (p.S627_G628insR)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930614" "0" "30" "16" "51172713" "51172713" "subst" "2.84278E-5" "02326" "SALL1_000104" "g.51172713G>T" "" "" "" "SALL1(NM_002968.2):c.3420C>A (p.G1140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930615" "0" "30" "16" "51175346" "51175346" "subst" "9.34018E-5" "02325" "SALL1_000034" "g.51175346C>A" "" "" "" "SALL1(NM_001127892.1):c.496G>T (p.(Asp166Tyr)), SALL1(NM_002968.2):c.787G>T (p.D263Y), SALL1(NM_002968.3):c.787G>T (p.D263Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930616" "0" "90" "16" "51175421" "51175421" "subst" "0" "02327" "SALL1_000105" "g.51175421G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000944303" "11" "90" "16" "51174704" "51174704" "dup" "0" "00006" "SALL1_000106" "g.51174704dup" "" "{PMID:Yang 2021:33478437}" "" "1428_1429insT" "" "Germline" "yes" "" "0" "" "" "g.51140793dup" "" "pathogenic (dominant)" "" "0000944304" "0" "90" "16" "51174704" "51174704" "dup" "0" "00006" "SALL1_000106" "g.51174704dup" "" "{PMID:Yang 2021:33478437}" "" "1428_1429insT" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.51140793dup" "" "pathogenic (dominant)" "" "0000950676" "0" "30" "16" "51171204" "51171204" "subst" "0.00144963" "02326" "SALL1_000007" "g.51171204C>T" "" "" "" "SALL1(NM_001127892.1):c.3503G>A (p.G1168E, p.(Gly1168Glu)), SALL1(NM_002968.2):c.3794G>A (p.G1265E), SALL1(NM_002968.3):c.3794G>A (p.G1265E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950677" "0" "50" "16" "51171313" "51171313" "subst" "2.84264E-5" "01804" "SALL1_000107" "g.51171313C>T" "" "" "" "SALL1(NM_001127892.1):c.3394G>A (p.(Asp1132Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968390" "0" "30" "16" "51173673" "51173673" "subst" "4.46679E-5" "02326" "SALL1_000108" "g.51173673G>A" "" "" "" "SALL1(NM_002968.2):c.2460C>T (p.D820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981931" "0" "30" "16" "51173488" "51173488" "subst" "0" "01804" "SALL1_000109" "g.51173488T>A" "" "" "" "SALL1(NM_002968.3):c.2645A>T (p.(Gln882Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981932" "0" "30" "16" "51173955" "51173955" "subst" "0.0141065" "01804" "SALL1_000020" "g.51173955C>T" "" "" "" "SALL1(NM_002968.2):c.2178G>A (p.R726=), SALL1(NM_002968.3):c.2178G>A (p.(Arg726=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981933" "0" "50" "16" "51175960" "51175962" "del" "0" "01804" "SALL1_000110" "g.51175960_51175962del" "" "" "" "SALL1(NM_002968.3):c.174_176del (p.(Leu60del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981934" "0" "30" "16" "51185123" "51185123" "subst" "0" "02326" "SALL1_000111" "g.51185123T>C" "" "" "" "SALL1(NM_002968.2):c.30A>G (p.Q10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002397" "0" "30" "16" "51172901" "51172901" "subst" "2.03052E-5" "01804" "SALL1_000112" "g.51172901C>T" "" "" "" "SALL1(NM_002968.2):c.3232G>A (p.(Ala1078Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002398" "0" "30" "16" "51173146" "51173146" "subst" "8.12288E-6" "01804" "SALL1_000113" "g.51173146C>T" "" "" "" "SALL1(NM_002968.2):c.2987G>A (p.(Gly996Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002399" "0" "50" "16" "51173281" "51173281" "subst" "8.13948E-6" "01804" "SALL1_000114" "g.51173281G>A" "" "" "" "SALL1(NM_002968.2):c.2852C>T (p.(Ala951Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002400" "0" "50" "16" "51173572" "51173572" "subst" "1.62467E-5" "01804" "SALL1_000115" "g.51173572G>A" "" "" "" "SALL1(NM_002968.2):c.2561C>T (p.(Ser854Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002401" "0" "50" "16" "51173863" "51173863" "subst" "8.12123E-6" "01804" "SALL1_000116" "g.51173863C>T" "" "" "" "SALL1(NM_002968.2):c.2270G>A (p.(Arg757His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002402" "0" "50" "16" "51174104" "51174104" "subst" "0" "02325" "SALL1_000117" "g.51174104C>T" "" "" "" "SALL1(NM_002968.3):c.2029G>A (p.G677R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002403" "0" "30" "16" "51174125" "51174125" "subst" "0.000479542" "01804" "SALL1_000118" "g.51174125A>G" "" "" "" "SALL1(NM_002968.2):c.2008T>C (p.(Phe670Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002404" "0" "30" "16" "51174167" "51174167" "subst" "0" "01804" "SALL1_000059" "g.51174167T>C" "" "" "" "SALL1(NM_001127892.1):c.1675A>G (p.T559A), SALL1(NM_002968.2):c.1966A>G (p.(Thr656Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002405" "0" "50" "16" "51174620" "51174620" "subst" "4.06062E-6" "01804" "SALL1_000119" "g.51174620G>A" "" "" "" "SALL1(NM_002968.2):c.1513C>T (p.(His505Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002406" "0" "30" "16" "51174820" "51174820" "subst" "0" "01804" "SALL1_000120" "g.51174820G>C" "" "" "" "SALL1(NM_002968.2):c.1313C>G (p.(Ala438Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002407" "0" "50" "16" "51174880" "51174880" "subst" "8.12123E-6" "02325" "SALL1_000121" "g.51174880G>C" "" "" "" "SALL1(NM_002968.3):c.1253C>G (p.S418C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002408" "0" "30" "16" "51174941" "51174941" "subst" "2.43633E-5" "01804" "SALL1_000122" "g.51174941C>T" "" "" "" "SALL1(NM_002968.2):c.1192G>A (p.(Ala398Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002409" "0" "50" "16" "51175481" "51175481" "subst" "4.06111E-6" "01804" "SALL1_000123" "g.51175481C>T" "" "" "" "SALL1(NM_002968.2):c.652G>A (p.(Gly218Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002410" "0" "30" "16" "51175658" "51175658" "subst" "0" "01804" "SALL1_000043" "g.51175658T>C" "" "" "" "SALL1(NM_002968.2):c.475A>G (p.S159G, p.(Ser159Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002411" "0" "30" "16" "51175661" "51175661" "subst" "0" "01804" "SALL1_000124" "g.51175661T>G" "" "" "" "SALL1(NM_002968.2):c.472A>C (p.(Ser158Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002412" "0" "50" "16" "51176004" "51176017" "del" "0" "01804" "SALL1_000125" "g.51176004_51176017del" "" "" "" "SALL1(NM_002968.2):c.117_130delCAAGGATGCCCACG (p.(Lys40fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026716" "0" "30" "16" "51173329" "51173329" "subst" "3.65583E-5" "02325" "SALL1_000095" "g.51173329G>A" "" "" "" "SALL1(NM_002968.3):c.2804C>T (p.T935M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026717" "0" "90" "16" "51174953" "51174953" "subst" "0" "02325" "SALL1_000126" "g.51174953G>A" "" "" "" "SALL1(NM_002968.3):c.1180C>T (p.Q394*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026718" "0" "30" "16" "51175898" "51175898" "subst" "0.00508608" "01943" "SALL1_000048" "g.51175898C>G" "" "" "" "SALL1(NM_001127892.1):c.-57G>C (p.(=)), SALL1(NM_002968.2):c.235G>C (p.A79P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041167" "0" "30" "16" "51171083" "51171083" "subst" "0.00130758" "01804" "SALL1_000003" "g.51171083G>A" "" "" "" "SALL1(NM_001127892.1):c.3624C>T (p.N1208=), SALL1(NM_002968.2):c.3915C>T (p.N1305=), SALL1(NM_002968.3):c.3915C>T (p.(Asn1305=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041168" "0" "30" "16" "51171110" "51171110" "subst" "4.06088E-6" "01804" "SALL1_000127" "g.51171110G>A" "" "" "" "SALL1(NM_002968.3):c.3888C>T (p.(Gly1296=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041169" "0" "10" "16" "51173589" "51173589" "subst" "0.0092264" "01804" "SALL1_000017" "g.51173589T>C" "" "" "" "SALL1(NM_002968.2):c.2544A>G (p.Q848=), SALL1(NM_002968.3):c.2544A>G (p.(Gln848=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001041170" "0" "30" "16" "51173823" "51173823" "subst" "0.00940017" "01804" "SALL1_000128" "g.51173823G>A" "" "" "" "SALL1(NM_002968.3):c.2310C>T (p.(Ile770=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041171" "0" "30" "16" "51175157" "51175157" "subst" "7.30953E-5" "01804" "SALL1_000129" "g.51175157A>C" "" "" "" "SALL1(NM_002968.3):c.976T>G (p.(Ser326Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041172" "0" "30" "16" "51175584" "51175584" "subst" "6.49804E-5" "01804" "SALL1_000097" "g.51175584T>C" "" "" "" "SALL1(NM_001127892.1):c.258A>G (p.T86=), SALL1(NM_002968.3):c.549A>G (p.(Thr183=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041173" "0" "50" "16" "51175674" "51175685" "dup" "0" "01804" "SALL1_000130" "g.51175674_51175685dup" "" "" "" "SALL1(NM_002968.3):c.466_477dup (p.(Ser156_Ser159dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041174" "0" "30" "16" "51175743" "51175743" "subst" "0.00912081" "01804" "SALL1_000087" "g.51175743C>T" "" "" "" "SALL1(NM_002968.2):c.390G>A (p.P130=), SALL1(NM_002968.3):c.390G>A (p.(Pro130=))" "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 SALL1 ## Count = 165 "{{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}}" "0000297893" "00018378" "10" "2574" "0" "2574" "0" "c.2574C>T" "r.(?)" "p.(Leu858=)" "" "0000297894" "00018378" "10" "3823" "0" "3823" "0" "c.3823G>A" "r.(?)" "p.(Val1275Ile)" "" "0000301636" "00018378" "10" "2574" "0" "2574" "0" "c.2574C>T" "r.(?)" "p.(Leu858=)" "" "0000301637" "00018378" "30" "235" "0" "235" "0" "c.235G>C" "r.(?)" "p.(Ala79Pro)" "" "0000301638" "00018378" "10" "3823" "0" "3823" "0" "c.3823G>A" "r.(?)" "p.(Val1275Ile)" "" "0000301639" "00018378" "10" "3872" "0" "3872" "0" "c.3872A>G" "r.(?)" "p.(Asn1291Ser)" "" "0000307652" "00018378" "90" "1128" "0" "1128" "0" "c.1128del" "r.(?)" "p.(Ala377LeufsTer4)" "" "0000307653" "00018378" "90" "1292" "0" "1301" "0" "c.1292_1301del" "r.(?)" "p.(Pro431LeufsTer59)" "" "0000307654" "00018378" "90" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Gln465Ter)" "" "0000307656" "00018378" "90" "1513" "0" "1513" "0" "c.1513C>A" "r.(?)" "p.(His505Asn)" "" "0000307657" "00018378" "90" "1821" "0" "1834" "0" "c.1821_1834del" "r.(?)" "p.(Leu608ArgfsTer28)" "" "0000307658" "00018378" "10" "475" "0" "477" "0" "c.475_477del" "r.(?)" "p.(Ser159del)" "" "0000307660" "00018378" "90" "207" "0" "207" "0" "c.207del" "r.(?)" "p.(Gln69HisfsTer2)" "" "0000307661" "00018378" "10" "2178" "0" "2178" "0" "c.2178G>A" "r.(?)" "p.(Arg726=)" "" "0000307662" "00018378" "50" "2275" "0" "2275" "0" "c.2275A>G" "r.(?)" "p.(Met759Val)" "" "0000307663" "00018378" "10" "2574" "0" "2574" "0" "c.2574C>T" "r.(?)" "p.(Leu858=)" "" "0000307664" "00018378" "10" "2343" "0" "2343" "0" "c.2343G>C" "r.(?)" "p.(Leu781=)" "" "0000307665" "00018378" "10" "2544" "0" "2544" "0" "c.2544A>G" "r.(?)" "p.(Gln848=)" "" "0000307666" "00018378" "90" "2905" "0" "2905" "0" "c.2905del" "r.(?)" "p.(Ala969LeufsTer4)" "" "0000307667" "00018378" "10" "292" "0" "292" "0" "c.292A>G" "r.(?)" "p.(Met98Val)" "" "0000307668" "00018378" "30" "3310" "0" "3310" "0" "c.3310C>G" "r.(?)" "p.(Pro1104Ala)" "" "0000307669" "00018378" "10" "3222" "0" "3222" "0" "c.3222G>A" "r.(?)" "p.(Ala1074=)" "" "0000307670" "00018378" "10" "3456" "0" "3456" "0" "c.3456C>T" "r.(?)" "p.(His1152=)" "" "0000307671" "00018378" "50" "3631" "0" "3631" "0" "c.3631G>A" "r.(?)" "p.(Val1211Ile)" "" "0000307672" "00018378" "50" "3927" "0" "3927" "0" "c.3927C>A" "r.(?)" "p.(Phe1309Leu)" "" "0000307673" "00018378" "50" "3665" "0" "3665" "0" "c.3665C>T" "r.(?)" "p.(Ala1222Val)" "" "0000307675" "00018378" "10" "3872" "0" "3872" "0" "c.3872A>G" "r.(?)" "p.(Asn1291Ser)" "" "0000307676" "00018378" "30" "3915" "0" "3915" "0" "c.3915C>T" "r.(?)" "p.(Asn1305=)" "" "0000307677" "00018378" "10" "475" "0" "475" "0" "c.475A>G" "r.(?)" "p.(Ser159Gly)" "" "0000307678" "00018378" "10" "76" "36" "76" "37" "c.76+36_76+37del" "r.(=)" "p.(=)" "" "0000307679" "00018378" "50" "787" "0" "787" "0" "c.787G>T" "r.(?)" "p.(Asp263Tyr)" "" "0000307680" "00018378" "10" "809" "0" "809" "0" "c.809C>T" "r.(?)" "p.(Pro270Leu)" "" "0000307681" "00018378" "50" "914" "0" "914" "0" "c.914G>A" "r.(?)" "p.(Ser305Asn)" "" "0000307682" "00018378" "90" "958" "0" "958" "0" "c.958del" "r.(?)" "p.(Gln320SerfsTer22)" "" "0000324761" "00018378" "30" "3872" "0" "3872" "0" "c.3872A>G" "r.(?)" "p.(Asn1291Ser)" "" "0000324762" "00018378" "30" "3794" "0" "3794" "0" "c.3794G>A" "r.(?)" "p.(Gly1265Glu)" "" "0000324763" "00018378" "50" "3772" "0" "3772" "0" "c.3772G>A" "r.(?)" "p.(Gly1258Ser)" "" "0000324764" "00018378" "50" "2816" "0" "2816" "0" "c.2816A>G" "r.(?)" "p.(His939Arg)" "" "0000324765" "00018378" "50" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000324766" "00018378" "50" "1300" "0" "1300" "0" "c.1300A>G" "r.(?)" "p.(Thr434Ala)" "" "0000324767" "00018378" "30" "1257" "0" "1257" "0" "c.1257G>T" "r.(?)" "p.(Leu419Phe)" "" "0000324768" "00018378" "30" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Gly160Ser)" "" "0000324769" "00018378" "50" "469" "0" "477" "0" "c.469_477dup" "r.(?)" "p.(Ser157_Ser159dup)" "" "0000324770" "00018378" "30" "477" "0" "478" "0" "c.477_478insAGCGGC" "r.(?)" "p.(Ser159_Gly160insSerGly)" "" "0000324771" "00018378" "30" "475" "0" "477" "0" "c.475_477del" "r.(?)" "p.(Ser159del)" "" "0000324772" "00018378" "30" "469" "0" "477" "0" "c.469_477del" "r.(?)" "p.(Ser157_Ser159del)" "" "0000324774" "00018378" "50" "472" "0" "472" "0" "c.472A>G" "r.(?)" "p.(Ser158Gly)" "" "0000324776" "00018378" "50" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Pro130Leu)" "" "0000324777" "00018378" "30" "235" "0" "235" "0" "c.235G>C" "r.(?)" "p.(Ala79Pro)" "" "0000340224" "00018378" "10" "3456" "0" "3456" "0" "c.3456C>T" "r.(?)" "p.(His1152=)" "" "0000340866" "00018378" "10" "2574" "0" "2574" "0" "c.2574C>T" "r.(?)" "p.(Leu858=)" "" "0000350264" "00018378" "10" "3823" "0" "3823" "0" "c.3823G>A" "r.(?)" "p.(Val1275Ile)" "" "0000368956" "00018378" "70" "3437" "0" "3437" "0" "c.3437C>A" "r.(?)" "p.(Ser1146*)" "" "0000558373" "00018378" "10" "4063" "0" "4067" "0" "c.*88_*92dup" "r.(=)" "p.(=)" "" "0000558375" "00018378" "50" "3794" "0" "3794" "0" "c.3794G>A" "r.(?)" "p.(Gly1265Glu)" "" "0000558376" "00018378" "50" "3674" "0" "3674" "0" "c.3674C>G" "r.(?)" "p.(Ser1225Ter)" "" "0000558377" "00018378" "50" "3331" "0" "3331" "0" "c.3331G>A" "r.(?)" "p.(Gly1111Arg)" "" "0000558378" "00018378" "30" "2619" "0" "2619" "0" "c.2619C>G" "r.(?)" "p.(Ile873Met)" "" "0000558380" "00018378" "30" "2511" "0" "2511" "0" "c.2511C>A" "r.(?)" "p.(Ile837=)" "" "0000558381" "00018378" "30" "1966" "0" "1966" "0" "c.1966A>G" "r.(?)" "p.(Thr656Ala)" "" "0000558382" "00018378" "30" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Thr636Met)" "" "0000558383" "00018378" "30" "1904" "0" "1904" "0" "c.1904C>T" "r.(?)" "p.(Pro635Leu)" "" "0000558384" "00018378" "30" "1904" "0" "1904" "0" "c.1904C>T" "r.(?)" "p.(Pro635Leu)" "" "0000558385" "00018378" "30" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Glu626Asp)" "" "0000558386" "00018378" "30" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Glu626Asp)" "" "0000558387" "00018378" "50" "1723" "0" "1723" "0" "c.1723C>T" "r.(?)" "p.(Pro575Ser)" "" "0000558389" "00018378" "90" "1488" "0" "1488" "0" "c.1488dup" "r.(?)" "p.(Gln497SerfsTer19)" "" "0000558390" "00018378" "30" "1322" "0" "1322" "0" "c.1322C>A" "r.(?)" "p.(Thr441Asn)" "" "0000558391" "00018378" "50" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Thr412Ile)" "" "0000558392" "00018378" "90" "1112" "0" "1112" "0" "c.1112C>G" "r.(?)" "p.(Ser371Ter)" "" "0000558393" "00018378" "50" "1049" "0" "1049" "0" "c.1049C>A" "r.(?)" "p.(Thr350Asn)" "" "0000558394" "00018378" "50" "845" "0" "845" "0" "c.845T>G" "r.(?)" "p.(Leu282Trp)" "" "0000558395" "00018378" "90" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276Ter)" "" "0000558396" "00018378" "30" "809" "0" "809" "0" "c.809C>T" "r.(?)" "p.(Pro270Leu)" "" "0000558397" "00018378" "30" "537" "0" "537" "0" "c.537C>T" "r.(?)" "p.(Leu179=)" "" "0000558399" "00018378" "50" "487" "0" "489" "0" "c.487_489dup" "r.(?)" "p.(Gly163dup)" "" "0000558404" "00018378" "30" "469" "0" "477" "0" "c.469_477del" "r.(?)" "p.(Ser157_Ser159del)" "" "0000558405" "00018378" "30" "469" "0" "477" "0" "c.469_477del" "r.(?)" "p.(Ser157_Ser159del)" "" "0000558406" "00018378" "10" "469" "0" "477" "0" "c.469_477dup" "r.(?)" "p.(Ser157_Ser159dup)" "" "0000558407" "00018378" "30" "469" "0" "477" "0" "c.469_477dup" "r.(?)" "p.(Ser157_Ser159dup)" "" "0000558409" "00018378" "10" "472" "0" "477" "0" "c.472_477dup" "r.(?)" "p.(Ser158_Ser159dup)" "" "0000558410" "00018378" "10" "475" "0" "477" "0" "c.475_477dup" "r.(?)" "p.(Ser159dup)" "" "0000558411" "00018378" "10" "475" "0" "477" "0" "c.475_477dup" "r.(?)" "p.(Ser159dup)" "" "0000558412" "00018378" "10" "475" "0" "477" "0" "c.475_477dup" "r.(?)" "p.(Ser159dup)" "" "0000558413" "00018378" "30" "411" "0" "411" "0" "c.411C>T" "r.(?)" "p.(Ser137=)" "" "0000616026" "00018378" "50" "2338" "0" "2338" "0" "c.2338G>T" "r.(?)" "p.(Val780Phe)" "" "0000616027" "00018378" "30" "2332" "0" "2332" "0" "c.2332G>A" "r.(?)" "p.(Ala778Thr)" "" "0000616028" "00018378" "50" "591" "0" "591" "0" "c.591C>T" "r.(?)" "p.(Ile197=)" "" "0000616029" "00018378" "30" "477" "0" "478" "0" "c.477_478insAGCGGC" "r.(?)" "p.(Ser159_Gly160insSerGly)" "" "0000616030" "00018378" "30" "475" "0" "477" "0" "c.475_477dup" "r.(?)" "p.(Ser159dup)" "" "0000616031" "00018378" "90" "441" "0" "441" "0" "c.441dup" "r.(?)" "p.(Ala148ArgfsTer122)" "" "0000616032" "00018378" "30" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(His43=)" "" "0000649343" "00018378" "30" "3794" "0" "3794" "0" "c.3794G>A" "r.(?)" "p.(Gly1265Glu)" "" "0000657866" "00018378" "10" "390" "0" "390" "0" "c.390G>A" "r.(?)" "p.(Pro130=)" "" "0000657867" "00018378" "30" "239" "0" "239" "0" "c.239C>A" "r.(?)" "p.(Ser80Tyr)" "" "0000680594" "00018378" "50" "3917" "0" "3917" "0" "c.3917G>A" "r.(?)" "p.(Gly1306Glu)" "" "0000692082" "00018378" "30" "3794" "0" "3794" "0" "c.3794G>A" "r.(?)" "p.(Gly1265Glu)" "" "0000692083" "00018378" "30" "787" "0" "787" "0" "c.787G>T" "r.(?)" "p.(Asp263Tyr)" "" "0000692084" "00018378" "30" "472" "0" "477" "0" "c.472_477dup" "r.(?)" "p.(Ser158_Ser159dup)" "" "0000692085" "00018378" "10" "472" "0" "477" "0" "c.472_477dup" "r.(?)" "p.(Ser158_Ser159dup)" "" "0000692086" "00018378" "30" "109" "0" "109" "0" "c.109A>T" "r.(?)" "p.(Thr37Ser)" "" "0000699876" "00018378" "70" "3771" "0" "3771" "0" "c.3771C>G" "r.(?)" "p.(Asn1257Lys)" "" "0000725829" "00018378" "30" "3631" "0" "3631" "0" "c.3631G>A" "r.(?)" "p.(Val1211Ile)" "" "0000725830" "00018378" "30" "469" "0" "477" "0" "c.469_477del" "r.(?)" "p.(Ser157_Ser159del)" "" "0000725831" "00018378" "30" "220" "0" "220" "0" "c.220G>A" "r.(?)" "p.(Val74Ile)" "" "0000807437" "00018378" "50" "3943" "0" "3943" "0" "c.3943G>A" "r.(?)" "p.(Val1315Met)" "" "0000807438" "00018378" "50" "281" "0" "281" "0" "c.281C>T" "r.(?)" "p.(Pro94Leu)" "" "0000847333" "00018378" "10" "400" "0" "411" "0" "c.400_411dup" "r.(?)" "p.(Lys134_Ser137dup)" "2" "0000847334" "00018378" "10" "475" "0" "475" "0" "c.475A>G" "r.(?)" "p.(Ser159Gly)" "2" "0000847335" "00018378" "10" "475" "0" "477" "0" "c.475_477del" "r.(?)" "p.(Ser159del)" "2" "0000847336" "00018378" "30" "2804" "0" "2804" "0" "c.2804C>T" "r.(?)" "p.(Thr935Met)" "2" "0000847337" "00018378" "10" "3794" "0" "3794" "0" "c.3794G>A" "r.(?)" "p.(Gly1265Glu)" "2" "0000847338" "00018378" "10" "3823" "0" "3823" "0" "c.3823G>A" "r.(?)" "p.(Val1275Ile)" "2" "0000847339" "00018378" "10" "3872" "0" "3872" "0" "c.3872A>G" "r.(?)" "p.(Asn1291Ser)" "2" "0000847530" "00018378" "10" "2574" "0" "2574" "0" "c.2574C>T" "r.(=)" "p.(Leu858=)" "1" "0000854538" "00018378" "30" "549" "0" "549" "0" "c.549A>G" "r.(?)" "p.(Thr183=)" "" "0000854539" "00018378" "10" "475" "0" "477" "0" "c.475_477del" "r.(?)" "p.(Ser159del)" "" "0000854540" "00018378" "30" "411" "0" "411" "0" "c.411C>T" "r.(?)" "p.(Ser137=)" "" "0000864828" "00018378" "30" "379" "0" "379" "0" "c.379G>C" "r.(?)" "p.(Val127Leu)" "" "0000893039" "00018378" "30" "3964" "0" "3964" "0" "c.3964G>A" "r.(?)" "p.(Val1322Ile)" "" "0000893040" "00018378" "50" "2184" "0" "2184" "0" "c.2184C>A" "r.(?)" "p.(His728Gln)" "" "0000893041" "00018378" "50" "472" "0" "477" "0" "c.472_477del" "r.(?)" "p.(Ser158_Ser159del)" "" "0000893042" "00018378" "30" "472" "0" "477" "0" "c.472_477dup" "r.(?)" "p.(Ser158_Ser159dup)" "" "0000893043" "00018378" "90" "364" "0" "364" "0" "c.364G>T" "r.(?)" "p.(Glu122*)" "" "0000914639" "00018378" "30" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Gly160Ser)" "" "0000926300" "00018378" "50" "1881" "0" "1882" "0" "c.1881_1882insCGT" "r.(?)" "p.(Ser627_Gly628insArg)" "" "0000930614" "00018378" "30" "3420" "0" "3420" "0" "c.3420C>A" "r.(?)" "p.(=)" "" "0000930615" "00018378" "30" "787" "0" "787" "0" "c.787G>T" "r.(?)" "p.(Asp263Tyr)" "" "0000930616" "00018378" "90" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Gln238*)" "" "0000944303" "00018378" "90" "1430" "0" "1430" "0" "c.1430dup" "r.(?)" "p.(Lys478Glnfs*38)" "" "0000944304" "00018378" "90" "1430" "0" "1430" "0" "c.1430dup" "r.(?)" "p.(Lys478Glnfs*38)" "" "0000950676" "00018378" "30" "3794" "0" "3794" "0" "c.3794G>A" "r.(?)" "p.(Gly1265Glu)" "" "0000950677" "00018378" "50" "3685" "0" "3685" "0" "c.3685G>A" "r.(?)" "p.(Asp1229Asn)" "" "0000968390" "00018378" "30" "2460" "0" "2460" "0" "c.2460C>T" "r.(?)" "p.(=)" "" "0000981931" "00018378" "30" "2645" "0" "2645" "0" "c.2645A>T" "r.(?)" "p.(Gln882Leu)" "" "0000981932" "00018378" "30" "2178" "0" "2178" "0" "c.2178G>A" "r.(?)" "p.(Arg726=)" "" "0000981933" "00018378" "50" "174" "0" "176" "0" "c.174_176del" "r.(?)" "p.(Leu60del)" "" "0000981934" "00018378" "30" "30" "0" "30" "0" "c.30A>G" "r.(?)" "p.(=)" "" "0001002397" "00018378" "30" "3232" "0" "3232" "0" "c.3232G>A" "r.(?)" "p.(Ala1078Thr)" "" "0001002398" "00018378" "30" "2987" "0" "2987" "0" "c.2987G>A" "r.(?)" "p.(Gly996Asp)" "" "0001002399" "00018378" "50" "2852" "0" "2852" "0" "c.2852C>T" "r.(?)" "p.(Ala951Val)" "" "0001002400" "00018378" "50" "2561" "0" "2561" "0" "c.2561C>T" "r.(?)" "p.(Ser854Leu)" "" "0001002401" "00018378" "50" "2270" "0" "2270" "0" "c.2270G>A" "r.(?)" "p.(Arg757His)" "" "0001002402" "00018378" "50" "2029" "0" "2029" "0" "c.2029G>A" "r.(?)" "p.(Gly677Arg)" "" "0001002403" "00018378" "30" "2008" "0" "2008" "0" "c.2008T>C" "r.(?)" "p.(Phe670Leu)" "" "0001002404" "00018378" "30" "1966" "0" "1966" "0" "c.1966A>G" "r.(?)" "p.(Thr656Ala)" "" "0001002405" "00018378" "50" "1513" "0" "1513" "0" "c.1513C>T" "r.(?)" "p.(His505Tyr)" "" "0001002406" "00018378" "30" "1313" "0" "1313" "0" "c.1313C>G" "r.(?)" "p.(Ala438Gly)" "" "0001002407" "00018378" "50" "1253" "0" "1253" "0" "c.1253C>G" "r.(?)" "p.(Ser418Cys)" "" "0001002408" "00018378" "30" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Ala398Thr)" "" "0001002409" "00018378" "50" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Gly218Arg)" "" "0001002410" "00018378" "30" "475" "0" "475" "0" "c.475A>G" "r.(?)" "p.(Ser159Gly)" "" "0001002411" "00018378" "30" "472" "0" "472" "0" "c.472A>C" "r.(?)" "p.(Ser158Arg)" "" "0001002412" "00018378" "50" "117" "0" "130" "0" "c.117_130del" "r.(?)" "p.(Lys40Leufs*10)" "" "0001026716" "00018378" "30" "2804" "0" "2804" "0" "c.2804C>T" "r.(?)" "p.(Thr935Met)" "" "0001026717" "00018378" "90" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Gln394*)" "" "0001026718" "00018378" "30" "235" "0" "235" "0" "c.235G>C" "r.(?)" "p.(Ala79Pro)" "" "0001041167" "00018378" "30" "3915" "0" "3915" "0" "c.3915C>T" "r.(?)" "p.(Asn1305=)" "" "0001041168" "00018378" "30" "3888" "0" "3888" "0" "c.3888C>T" "r.(?)" "p.(=)" "" "0001041169" "00018378" "10" "2544" "0" "2544" "0" "c.2544A>G" "r.(?)" "p.(Gln848=)" "" "0001041170" "00018378" "30" "2310" "0" "2310" "0" "c.2310C>T" "r.(?)" "p.(=)" "" "0001041171" "00018378" "30" "976" "0" "976" "0" "c.976T>G" "r.(?)" "p.(Ser326Ala)" "" "0001041172" "00018378" "30" "549" "0" "549" "0" "c.549A>G" "r.(?)" "p.(Thr183=)" "" "0001041173" "00018378" "50" "466" "0" "477" "0" "c.466_477dup" "r.(?)" "p.(Ser156_Ser159dup)" "" "0001041174" "00018378" "30" "390" "0" "390" "0" "c.390G>A" "r.(?)" "p.(Pro130=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000165297" "0000368956" "0000292654" "0000649343" "0000317352" "0000699876" "0000410084" "0000847333" "0000410085" "0000847334" "0000410086" "0000847335" "0000410087" "0000847336" "0000410088" "0000847337" "0000410089" "0000847338" "0000410090" "0000847339" "0000410254" "0000847530" "0000442950" "0000944303" "0000442951" "0000944304"