### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DLG5) # 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}}" "DLG5" "discs, large homolog 5 (Drosophila)" "10" "q23" "unknown" "NG_011484.1" "UD_132118816816" "" "https://www.LOVD.nl/DLG5" "" "1" "2904" "9231" "604090" "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/DLG5_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2021-07-28 14:57:51" "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}}" "00001491" "DLG5" "discs, large homolog 5 (Drosophila)" "001" "NM_004747.3" "" "NP_004738.3" "" "" "" "-70" "7409" "5760" "79550549" "79686348" "00000" "2012-09-13 13:35:56" "" "" ## 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 = 6 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00377589" "" "" "" "1" "" "00006" "{PMID:Marquez 2021:32631816}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "Europe" "FamIIIPat2-1" "00377590" "" "" "" "1" "" "00006" "{PMID:Marquez 2021:32631816}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "Europe" "FamIPat2-1" "00377591" "" "" "" "1" "" "00006" "{PMID:Marquez 2021:32631816}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "Europe" "FamIVPat2-1" "00377592" "" "" "" "2" "" "00006" "{PMID:Marquez 2021:32631816}" "2-generation family, affected,affected father/son" "M" "" "" "" "0" "" "" "Europe" "FamIIPat1-1" "00377593" "" "" "" "1" "" "00006" "{PMID:Marquez 2021:32631816}" "son" "M" "" "" "" "0" "" "" "Europe" "FamIIPat2-1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00377589" "00198" "00377590" "00198" "00377591" "00198" "00377592" "00198" "00377593" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157 ## Count = 6 "{{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}}" "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" "" "" "" "" "" "" "" "" "" "0000272742" "00198" "00377589" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "steroid-resistant nephrotic syndrome" "" "0000272743" "00198" "00377590" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "congenital anomalies of the kidney and urinary tract, congenital heart disease, limb abnormalities" "" "0000272744" "00198" "00377591" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "craniofacial defects, hydrocephalus, limb abnormalities" "" "0000272745" "00198" "00377592" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "congenital anomalies of the kidney and urinary tract" "" "0000272746" "00198" "00377593" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "congenital anomalies of the kidney and urinary tract" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000378793" "00377589" "1" "00006" "00006" "2021-07-28 15:49:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000378794" "00377590" "1" "00006" "00006" "2021-07-28 15:49:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000378795" "00377591" "1" "00006" "00006" "2021-07-28 15:49:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000378796" "00377592" "1" "00006" "00006" "2021-07-28 15:49:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000378797" "00377593" "1" "00006" "00006" "2021-07-28 15:49:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 33 "{{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}}" "0000012857" "3" "50" "10" "79657328" "79657328" "subst" "0" "00037" "DLG5_000002" "g.79657328G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.77897570G>T" "" "VUS" "" "0000012858" "3" "50" "10" "79657529" "79657529" "subst" "0" "00037" "DLG5_000001" "g.79657529T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.77897771T>A" "" "VUS" "" "0000267415" "0" "10" "10" "79616605" "79616605" "subst" "0.929988" "02325" "DLG5_000005" "g.79616605T>C" "" "" "" "DLG5(NM_004747.4):c.419A>G (p.Q140R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77856847T>C" "" "benign" "" "0000270818" "0" "30" "10" "79588623" "79588629" "del" "0" "02326" "DLG5_000004" "g.79588623_79588629del" "" "" "" "DLG5(NM_004747.4):c.2289+13_2289+19delGCTGGAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77828865_77828871del" "" "likely benign" "" "0000791687" "11" "70" "10" "79616527" "79616527" "subst" "2.0332E-5" "00006" "DLG5_000006" "g.79616527C>T" "" "{PMID:Marquez 2021:32631816}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000791688" "0" "70" "10" "79613231" "79613231" "subst" "1.23477E-5" "00006" "DLG5_000008" "g.79613231G>A" "" "{PMID:Marquez 2021:32631816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000791689" "3" "70" "10" "79581781" "79581781" "subst" "0" "00006" "DLG5_000009" "g.79581781G>A" "" "{PMID:Marquez 2021:32631816}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000791690" "0" "70" "10" "79569425" "79569426" "delins" "0" "00006" "DLG5_000010" "g.79569425_79569426delinsAA" "" "{PMID:Marquez 2021:32631816}" "" "4526AG>TT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000791691" "11" "70" "10" "79569425" "79569426" "delins" "0" "00006" "DLG5_000010" "g.79569425_79569426delinsAA" "" "{PMID:Marquez 2021:32631816}" "" "4526AG>TT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000791692" "21" "70" "10" "79581028" "79581028" "subst" "0.000540475" "00006" "DLG5_000007" "g.79581028G>A" "" "{PMID:Marquez 2021:32631816}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000804573" "0" "30" "10" "79580870" "79580870" "subst" "3.26009E-5" "01943" "DLG5_000011" "g.79580870A>T" "" "" "" "DLG5(NM_004747.3):c.3372T>A (p.A1124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804574" "0" "30" "10" "79603429" "79603429" "subst" "4.06072E-6" "01943" "DLG5_000012" "g.79603429G>A" "" "" "" "DLG5(NM_004747.3):c.900C>T (p.N300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979166" "0" "50" "10" "79593690" "79593690" "subst" "0" "01804" "DLG5_000013" "g.79593690C>T" "" "" "" "DLG5(NM_004747.4):c.1730G>A (p.(Arg577His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998532" "0" "50" "10" "79552206" "79552206" "subst" "0.000316731" "01804" "DLG5_000014" "g.79552206G>A" "" "" "" "DLG5(NM_004747.3):c.5752C>T (p.(Pro1918Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998533" "0" "50" "10" "79554659" "79554659" "subst" "0" "01804" "DLG5_000015" "g.79554659G>C" "" "" "" "DLG5(NM_004747.3):c.5494C>G (p.(His1832Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998534" "0" "30" "10" "79554714" "79554714" "subst" "2.07158E-5" "01804" "DLG5_000016" "g.79554714G>T" "" "" "" "DLG5(NM_004747.3):c.5439C>A (p.(Asn1813Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998535" "0" "50" "10" "79567684" "79567684" "subst" "4.06484E-6" "01804" "DLG5_000017" "g.79567684G>A" "" "" "" "DLG5(NM_004747.3):c.4666C>T (p.(Arg1556Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998536" "0" "30" "10" "79579722" "79579722" "subst" "4.91417E-5" "01804" "DLG5_000018" "g.79579722C>T" "" "" "" "DLG5(NM_004747.3):c.3457G>A (p.(Ala1153Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998537" "0" "30" "10" "79581282" "79581282" "subst" "0.000485953" "01804" "DLG5_000019" "g.79581282T>C" "" "" "" "DLG5(NM_004747.3):c.2960A>G (p.(Lys987Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998538" "0" "30" "10" "79581505" "79581505" "subst" "0" "01804" "DLG5_000020" "g.79581505G>A" "" "" "" "DLG5(NM_004747.3):c.2737C>T (p.(Arg913Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998539" "0" "30" "10" "79581573" "79581573" "subst" "0.000219111" "01804" "DLG5_000021" "g.79581573C>T" "" "" "" "DLG5(NM_004747.3):c.2669G>A (p.(Arg890His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998540" "0" "50" "10" "79581579" "79581579" "subst" "4.11601E-6" "01804" "DLG5_000022" "g.79581579G>C" "" "" "" "DLG5(NM_004747.3):c.2663C>G (p.(Ser888Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998541" "0" "50" "10" "79593796" "79593796" "subst" "0" "01804" "DLG5_000023" "g.79593796T>C" "" "" "" "DLG5(NM_004747.3):c.1624A>G (p.(Thr542Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998542" "0" "50" "10" "79614054" "79614054" "subst" "0" "01804" "DLG5_000024" "g.79614054C>T" "" "" "" "DLG5(NM_004747.3):c.611G>A (p.(Ser204Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014660" "0" "30" "10" "79581028" "79581028" "subst" "0.000540475" "02326" "DLG5_000007" "g.79581028G>A" "" "" "" "DLG5(NM_004747.4):c.3214C>T (p.(Arg1072Cys), p.R1072C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038021" "0" "30" "10" "79552251" "79552251" "subst" "0.000328942" "01804" "DLG5_000025" "g.79552251T>C" "" "" "" "DLG5(NM_004747.4):c.5707A>G (p.(Met1903Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038022" "0" "30" "10" "79579775" "79579775" "subst" "0.000759357" "01804" "DLG5_000026" "g.79579775T>G" "" "" "" "DLG5(NM_004747.4):c.3404A>C (p.(Glu1135Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038023" "0" "30" "10" "79580831" "79580831" "subst" "4.3163E-5" "01804" "DLG5_000027" "g.79580831C>G" "" "" "" "DLG5(NM_004747.4):c.3402+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038024" "0" "30" "10" "79581028" "79581028" "subst" "0.000540475" "01804" "DLG5_000007" "g.79581028G>A" "" "" "" "DLG5(NM_004747.4):c.3214C>T (p.(Arg1072Cys), p.R1072C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038025" "0" "50" "10" "79603415" "79603415" "subst" "8.12143E-6" "01804" "DLG5_000028" "g.79603415G>A" "" "" "" "DLG5(NM_004747.4):c.914C>T (p.(Thr305Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038026" "0" "50" "10" "79613121" "79613123" "del" "0" "01804" "DLG5_000029" "g.79613121_79613123del" "" "" "" "DLG5(NM_004747.4):c.862_864del (p.(Gln288del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038027" "0" "30" "10" "79613298" "79613298" "subst" "8.88249E-6" "01804" "DLG5_000030" "g.79613298G>A" "" "" "" "DLG5(NM_004747.4):c.681-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038028" "0" "30" "10" "79670452" "79670452" "subst" "0" "01804" "DLG5_000031" "g.79670452G>A" "" "" "" "DLG5(NM_004747.4):c.304+15523C>T" "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 DLG5 ## Count = 33 "{{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}}" "0000012857" "00001491" "50" "305" "-28373" "305" "-28373" "c.305-28373C>A" "r.(=)" "p.(=)" "" "0000012858" "00001491" "50" "304" "28446" "304" "28446" "c.304+28446A>T" "r.(=)" "p.(=)" "" "0000267415" "00001491" "10" "419" "0" "419" "0" "c.419A>G" "r.(?)" "p.(Gln140Arg)" "" "0000270818" "00001491" "30" "2289" "13" "2289" "19" "c.2289+13_2289+19del" "r.(=)" "p.(=)" "" "0000791687" "00001491" "70" "497" "0" "497" "0" "c.497G>A" "r.(?)" "p.(Arg166His)" "" "0000791688" "00001491" "70" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Arg249Trp)" "" "0000791689" "00001491" "70" "2461" "0" "2461" "0" "c.2461C>T" "r.(?)" "p.(Arg821*)" "" "0000791690" "00001491" "70" "4526" "0" "4527" "0" "c.4526_4527delinsTT" "r.(?)" "p.(Gln1509Leu)" "" "0000791691" "00001491" "70" "4526" "0" "4527" "0" "c.4526_4527delinsTT" "r.(?)" "p.(Gln1509Leu)" "" "0000791692" "00001491" "70" "3214" "0" "3214" "0" "c.3214C>T" "r.(?)" "p.(Arg1072Cys)" "" "0000804573" "00001491" "30" "3372" "0" "3372" "0" "c.3372T>A" "r.(?)" "p.(Ala1124=)" "" "0000804574" "00001491" "30" "900" "0" "900" "0" "c.900C>T" "r.(?)" "p.(Asn300=)" "" "0000979166" "00001491" "50" "1730" "0" "1730" "0" "c.1730G>A" "r.(?)" "p.(Arg577His)" "" "0000998532" "00001491" "50" "5752" "0" "5752" "0" "c.5752C>T" "r.(?)" "p.(Pro1918Ser)" "" "0000998533" "00001491" "50" "5494" "0" "5494" "0" "c.5494C>G" "r.(?)" "p.(His1832Asp)" "" "0000998534" "00001491" "30" "5439" "0" "5439" "0" "c.5439C>A" "r.(?)" "p.(Asn1813Lys)" "" "0000998535" "00001491" "50" "4666" "0" "4666" "0" "c.4666C>T" "r.(?)" "p.(Arg1556Trp)" "" "0000998536" "00001491" "30" "3457" "0" "3457" "0" "c.3457G>A" "r.(?)" "p.(Ala1153Thr)" "" "0000998537" "00001491" "30" "2960" "0" "2960" "0" "c.2960A>G" "r.(?)" "p.(Lys987Arg)" "" "0000998538" "00001491" "30" "2737" "0" "2737" "0" "c.2737C>T" "r.(?)" "p.(Arg913Trp)" "" "0000998539" "00001491" "30" "2669" "0" "2669" "0" "c.2669G>A" "r.(?)" "p.(Arg890His)" "" "0000998540" "00001491" "50" "2663" "0" "2663" "0" "c.2663C>G" "r.(?)" "p.(Ser888Cys)" "" "0000998541" "00001491" "50" "1624" "0" "1624" "0" "c.1624A>G" "r.(?)" "p.(Thr542Ala)" "" "0000998542" "00001491" "50" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Ser204Asn)" "" "0001014660" "00001491" "30" "3214" "0" "3214" "0" "c.3214C>T" "r.(?)" "p.(Arg1072Cys)" "" "0001038021" "00001491" "30" "5707" "0" "5707" "0" "c.5707A>G" "r.(?)" "p.(Met1903Val)" "" "0001038022" "00001491" "30" "3404" "0" "3404" "0" "c.3404A>C" "r.(?)" "p.(Glu1135Ala)" "" "0001038023" "00001491" "30" "3402" "9" "3402" "9" "c.3402+9G>C" "r.(=)" "p.(=)" "" "0001038024" "00001491" "30" "3214" "0" "3214" "0" "c.3214C>T" "r.(?)" "p.(Arg1072Cys)" "" "0001038025" "00001491" "50" "914" "0" "914" "0" "c.914C>T" "r.(?)" "p.(Thr305Met)" "" "0001038026" "00001491" "50" "862" "0" "864" "0" "c.862_864del" "r.(?)" "p.(Gln288del)" "" "0001038027" "00001491" "30" "681" "-3" "681" "-3" "c.681-3C>T" "r.spl?" "p.?" "" "0001038028" "00001491" "30" "304" "15523" "304" "15523" "c.304+15523C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000000210" "0000012857" "0000000210" "0000012858" "0000378793" "0000791687" "0000378793" "0000791692" "0000378794" "0000791688" "0000378795" "0000791689" "0000378796" "0000791690" "0000378797" "0000791691"