### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMARCA5) # 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}}" "SMARCA5" "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5" "4" "q31.1-q31.2" "unknown" "NC_000004.11" "UD_132610938386" "" "https://www.LOVD.nl/SMARCA5" "" "1" "11101" "8467" "603375" "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/SMARCA5_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2020-12-30 09:08:33" "00000" "2026-01-20 18:57:21" ## 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}}" "00000388" "SMARCA5" "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5" "001" "NM_003601.3" "" "NP_003592.3" "" "" "" "-462" "7464" "3159" "144434616" "144478642" "00000" "2012-09-13 12:11:04" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00325075" "" "" "" "1" "" "00679" "" "" "" "" "" "" "" "" "" "" "Ind1" "00325076" "" "" "" "1" "" "00679" "" "" "" "" "" "" "0" "" "" "" "Ind2" "00325077" "" "" "" "1" "" "00679" "" "" "" "" "" "" "" "" "" "" "Ind3" "00325078" "" "" "" "3" "" "00679" "family, 3 affected" "" "" "" "" "" "0" "" "" "" "Ind4" "00325079" "" "" "00325078" "1" "" "00679" "" "" "" "" "" "" "" "" "" "" "Ind5" "00325080" "" "" "00325078" "1" "" "00679" "" "" "" "" "" "" "" "" "" "" "Ind6" "00325081" "" "" "" "1" "" "00679" "" "" "" "" "" "" "" "" "" "" "Ind7" "00325082" "" "" "" "1" "" "00679" "" "" "" "" "" "" "" "" "" "" "Ind8" "00325083" "" "" "" "1" "" "00679" "" "" "" "" "" "" "" "" "" "" "Ind9" "00325084" "" "" "" "1" "" "00679" "" "" "" "" "" "" "" "" "" "" "Ind10" "00325085" "" "" "" "1" "" "00679" "" "" "" "" "" "" "" "" "" "" "Ind11" "00325086" "" "" "" "1" "" "00679" "" "" "" "" "" "" "" "" "" "" "Ind12" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00325075" "00198" "00325076" "00198" "00325077" "00198" "00325078" "00198" "00325079" "00198" "00325080" "00198" "00325081" "00198" "00325082" "00198" "00325083" "00198" "00325084" "00198" "00325085" "00198" "00325086" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157 ## Count = 14 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000243561" "00198" "00325075" "00679" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000243562" "00198" "00325076" "00679" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000243563" "00198" "00325077" "00679" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000243564" "00198" "00325078" "00679" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000243565" "00198" "00325079" "00679" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000243566" "00198" "00325080" "00679" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000243567" "00198" "00325081" "00679" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000243568" "00198" "00325082" "00679" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000243569" "00198" "00325083" "00679" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000243570" "00198" "00325084" "00679" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000243571" "00198" "00325085" "00679" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000243572" "00198" "00325086" "00679" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000326284" "00325075" "1" "00679" "00679" "2020-12-29 17:37:20" "00006" "2020-12-30 09:11:22" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "" "WES" "0000326286" "00325076" "1" "00679" "00679" "2020-12-29 17:44:20" "" "" "SEQ-NG-I" "DNA" "" "" "0000326287" "00325077" "1" "00679" "00679" "2020-12-29 17:49:13" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000326288" "00325078" "1" "00679" "00679" "2020-12-29 17:52:37" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000326289" "00325079" "1" "00679" "00679" "2020-12-29 17:58:14" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000326290" "00325080" "1" "00679" "00679" "2020-12-29 18:00:09" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000326291" "00325081" "1" "00679" "00679" "2020-12-29 18:02:08" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000326292" "00325082" "1" "00679" "00679" "2020-12-29 18:04:55" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000326293" "00325083" "1" "00679" "00679" "2020-12-29 18:07:36" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000326294" "00325084" "1" "00679" "00679" "2020-12-29 18:09:22" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000326295" "00325085" "1" "00679" "00679" "2020-12-29 18:11:18" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000326296" "00325086" "1" "00679" "00679" "2020-12-29 18:13:40" "" "" "SEQ-NG-I" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000326284" "A1BG" ## 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 = 34 "{{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}}" "0000004023" "3" "50" "4" "144447630" "144447630" "subst" "0.543286" "00037" "SMARCA5_000011" "g.144447630T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.143526477T>C" "" "VUS" "" "0000004024" "3" "50" "4" "144475991" "144475991" "subst" "0" "00037" "SMARCA5_000007" "g.144475991G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.143554838G>A" "" "VUS" "" "0000004025" "3" "50" "4" "144476149" "144476149" "subst" "0" "00037" "SMARCA5_000009" "g.144476149A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.143554996A>G" "" "VUS" "" "0000004026" "3" "50" "4" "144476176" "144476176" "subst" "0" "00037" "SMARCA5_000005" "g.144476176A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.143555023A>G" "" "VUS" "" "0000004027" "3" "50" "4" "144476208" "144476208" "subst" "0" "00037" "SMARCA5_000001" "g.144476208C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.143555055C>T" "" "VUS" "" "0000004028" "3" "50" "4" "144476262" "144476262" "subst" "0" "00037" "SMARCA5_000003" "g.144476262A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.143555109A>G" "" "VUS" "" "0000012035" "3" "50" "4" "144475991" "144475991" "subst" "0" "00037" "SMARCA5_000007" "g.144475991G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.143554838G>A" "" "VUS" "" "0000012036" "3" "50" "4" "144476149" "144476149" "subst" "0" "00037" "SMARCA5_000009" "g.144476149A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.143554996A>G" "" "VUS" "" "0000012037" "3" "50" "4" "144476176" "144476176" "subst" "0" "00037" "SMARCA5_000005" "g.144476176A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.143555023A>G" "" "VUS" "" "0000012038" "3" "50" "4" "144476208" "144476208" "subst" "0" "00037" "SMARCA5_000001" "g.144476208C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.143555055C>T" "" "VUS" "" "0000012039" "0" "50" "4" "144476262" "144476262" "subst" "0" "00037" "SMARCA5_000003" "g.144476262A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.143555109A>G" "" "VUS" "" "0000709530" "0" "90" "4" "144449019" "144449019" "subst" "0" "00679" "SMARCA5_000012" "g.144449019A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.143527866A>G" "" "pathogenic" "" "0000709531" "0" "90" "4" "144461520" "144461520" "subst" "0" "00679" "SMARCA5_000013" "g.144461520G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.143540367G>A" "" "pathogenic" "" "0000709532" "0" "90" "4" "144457637" "144457642" "del" "0" "00679" "SMARCA5_000014" "g.144457637_144457642del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.143536484_143536489del" "" "likely pathogenic" "" "0000709533" "21" "90" "4" "144460032" "144460032" "subst" "0" "00679" "SMARCA5_000015" "g.144460032G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.143538879G>C" "" "likely pathogenic" "" "0000709534" "21" "90" "4" "144460032" "144460032" "subst" "0" "00679" "SMARCA5_000015" "g.144460032G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.143538879G>C" "" "likely pathogenic" "" "0000709535" "0" "90" "4" "144460032" "144460032" "subst" "0" "00679" "SMARCA5_000015" "g.144460032G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.143538879G>C" "" "likely pathogenic" "" "0000709536" "0" "90" "4" "144465924" "144465924" "subst" "0" "00679" "SMARCA5_000016" "g.144465924G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.143544771G>A" "" "likely pathogenic" "" "0000709537" "0" "90" "4" "144451651" "144451651" "subst" "0" "00679" "SMARCA5_000017" "g.144451651A>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.143530498A>T" "" "likely pathogenic" "" "0000709538" "0" "90" "4" "144457637" "144457642" "del" "0" "00679" "SMARCA5_000014" "g.144457637_144457642del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.143536484_143536489del" "" "likely pathogenic" "" "0000709539" "0" "90" "4" "144461600" "144461600" "subst" "0" "00679" "SMARCA5_000018" "g.144461600G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.143540447G>C" "" "likely pathogenic" "" "0000709540" "0" "90" "4" "144468561" "144468561" "subst" "0" "00679" "SMARCA5_000019" "g.144468561G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.143547408G>A" "" "likely pathogenic" "" "0000709541" "0" "90" "4" "144460003" "144460003" "subst" "0" "00679" "SMARCA5_000020" "g.144460003C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.143538850C>A" "" "likely pathogenic" "" "0000912059" "0" "50" "4" "144447465" "144447465" "subst" "0" "02327" "SMARCA5_000021" "g.144447465T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922749" "0" "30" "4" "144467108" "144467108" "subst" "0" "03779" "SMARCA5_000022" "g.144467108G>T" "" "" "" "" "" "Unknown" "" "rs1380892697" "0" "" "" "" "" "likely benign" "" "0000948264" "0" "50" "4" "144445566" "144445566" "subst" "0" "02325" "SMARCA5_000023" "g.144445566A>G" "" "" "" "SMARCA5(NM_003601.4):c.466A>G (p.T156A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994095" "0" "50" "4" "144465019" "144465019" "subst" "0" "01804" "SMARCA5_000024" "g.144465019A>G" "" "" "" "SMARCA5(NM_003601.3):c.2066A>G (p.(Asn689Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994096" "0" "30" "4" "144468627" "144468627" "subst" "2.84812E-5" "01804" "SMARCA5_000025" "g.144468627A>G" "" "" "" "SMARCA5(NM_003601.3):c.2743A>G (p.(Ile915Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034358" "0" "30" "4" "144465880" "144465880" "subst" "6.57572E-5" "01804" "SMARCA5_000026" "g.144465880C>T" "" "" "" "SMARCA5(NM_003601.4):c.2173-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034359" "0" "30" "4" "144466008" "144466008" "subst" "4.45153E-6" "01804" "SMARCA5_000027" "g.144466008G>C" "" "" "" "SMARCA5(NM_003601.4):c.2283+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045948" "0" "50" "4" "144447455" "144447458" "del" "0" "02327" "SMARCA5_000028" "g.144447455_144447458del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064259" "0" "50" "4" "144442699" "144442699" "subst" "0" "02325" "SMARCA5_000029" "g.144442699C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064260" "0" "50" "4" "144468043" "144468043" "subst" "0" "02325" "SMARCA5_000030" "g.144468043G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064261" "0" "50" "4" "144468559" "144468559" "subst" "0.000237093" "02325" "SMARCA5_000031" "g.144468559A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SMARCA5 ## Count = 34 "{{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}}" "0000004023" "00000388" "50" "801" "17" "801" "17" "c.801+17T>C" "r.(=)" "p.(=)" "" "0000004024" "00000388" "50" "4813" "0" "4813" "0" "c.*1654G>A" "r.(=)" "p.(=)" "" "0000004025" "00000388" "50" "4971" "0" "4971" "0" "c.*1812A>G" "r.(=)" "p.(=)" "" "0000004026" "00000388" "50" "4998" "0" "4998" "0" "c.*1839A>G" "r.(=)" "p.(=)" "" "0000004027" "00000388" "50" "5030" "0" "5030" "0" "c.*1871C>T" "r.(=)" "p.(=)" "" "0000004028" "00000388" "50" "5084" "0" "5084" "0" "c.*1925A>G" "r.(=)" "p.(=)" "" "0000012035" "00000388" "50" "4813" "0" "4813" "0" "c.*1654G>A" "r.(=)" "p.(=)" "" "0000012036" "00000388" "50" "4971" "0" "4971" "0" "c.*1812A>G" "r.(=)" "p.(=)" "" "0000012037" "00000388" "50" "4998" "0" "4998" "0" "c.*1839A>G" "r.(=)" "p.(=)" "" "0000012038" "00000388" "50" "5030" "0" "5030" "0" "c.*1871C>T" "r.(=)" "p.(=)" "" "0000012039" "00000388" "50" "5084" "0" "5084" "0" "c.*1925A>G" "r.(=)" "p.(=)" "" "0000709530" "00000388" "90" "802" "-2" "802" "-2" "c.802-2A>G" "r.802-957del" "p.Ala268_Lys319del" "" "0000709531" "00000388" "90" "1775" "0" "1775" "0" "c.1775G>A" "r.(?)" "p.(Arg592Gln)" "" "0000709532" "00000388" "90" "1301" "0" "1306" "0" "c.1301_1306del" "r.(?)" "p.(Ile434_Leu435del)" "" "0000709533" "00000388" "90" "1711" "0" "1711" "0" "c.1711G>C" "r.(?)" "p.(Ala571Pro)" "" "0000709534" "00000388" "90" "1711" "0" "1711" "0" "c.1711G>C" "r.(?)" "p.(Ala571Pro)" "" "0000709535" "00000388" "90" "1711" "0" "1711" "0" "c.1711G>C" "r.(?)" "p.(Ala571Pro)" "" "0000709536" "00000388" "90" "2207" "0" "2207" "0" "c.2207G>A" "r.(?)" "p.(Arg736Gln)" "" "0000709537" "00000388" "90" "1130" "0" "1130" "0" "c.1130A>T" "r.(?)" "p.(Asp377Val)" "" "0000709538" "00000388" "90" "1301" "0" "1306" "0" "c.1301_1306del" "r.(?)" "p.(Ile434_Leu435del)" "" "0000709539" "00000388" "90" "1855" "0" "1855" "0" "c.1855G>C" "r.(?)" "p.(Glu619Gln)" "" "0000709540" "00000388" "90" "2677" "0" "2677" "0" "c.2677G>A" "r.(?)" "p.(Glu893Lys)" "" "0000709541" "00000388" "90" "1682" "0" "1682" "0" "c.1682C>A" "r.(?)" "p.(Ala561Asp)" "" "0000912059" "00000388" "50" "653" "0" "653" "0" "c.653T>G" "r.(?)" "p.(Leu218Arg)" "" "0000922749" "00000388" "30" "2428" "0" "2428" "0" "c.2428G>T" "r.(?)" "p.(Ala810Ser)" "" "0000948264" "00000388" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Thr156Ala)" "" "0000994095" "00000388" "50" "2066" "0" "2066" "0" "c.2066A>G" "r.(?)" "p.(Asn689Ser)" "" "0000994096" "00000388" "30" "2743" "0" "2743" "0" "c.2743A>G" "r.(?)" "p.(Ile915Val)" "" "0001034358" "00000388" "30" "2173" "-10" "2173" "-10" "c.2173-10C>T" "r.(=)" "p.(=)" "" "0001034359" "00000388" "30" "2283" "8" "2283" "8" "c.2283+8G>C" "r.(=)" "p.(=)" "" "0001045948" "00000388" "50" "643" "0" "646" "0" "c.643_646del" "r.(?)" "p.(Thr215Phefs*7)" "" "0001064259" "00000388" "50" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Cys)" "" "0001064260" "00000388" "50" "2635" "0" "2635" "0" "c.2635G>T" "r.(?)" "p.(Glu879*)" "" "0001064261" "00000388" "50" "2675" "0" "2675" "0" "c.2675A>G" "r.(?)" "p.(Asn892Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004023" "0000000209" "0000004024" "0000000209" "0000004025" "0000000209" "0000004026" "0000000209" "0000004027" "0000000209" "0000004028" "0000000210" "0000012035" "0000000210" "0000012036" "0000000210" "0000012037" "0000000210" "0000012038" "0000000210" "0000012039" "0000326284" "0000709530" "0000326286" "0000709531" "0000326287" "0000709532" "0000326288" "0000709533" "0000326289" "0000709534" "0000326290" "0000709535" "0000326291" "0000709536" "0000326292" "0000709537" "0000326293" "0000709538" "0000326294" "0000709539" "0000326295" "0000709540" "0000326296" "0000709541"