### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DRD4) # 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}}" "DRD4" "dopamine receptor D4" "11" "p15.5" "unknown" "NG_021241.1" "UD_132118335979" "" "http://www.LOVD.nl/DRD4" "" "1" "3025" "1815" "126452" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/DRD4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-03-18 14:12:38" "00000" "2025-11-01 13:22:20" ## 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}}" "00006694" "DRD4" "dopamine receptor D4" "001" "NM_000797.3" "" "NP_000788.2" "" "" "" "1" "1363" "1260" "637305" "640706" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "02384" "-" "novelty seeking, personality trait" "" "601696" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-03-23 22:46:33" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DRD4" "00291" "DRD4" "02384" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00226177" "" "" "" "1" "" "00006" "{PMID:Van Tol 1992:1319557}" "" "" "" "Canada" "" "0" "" "" "" "01319557_DRD4.2" "00226178" "" "" "" "1" "" "00006" "{PMID:Van Tol 1992:1319557}" "" "" "" "Canada" "" "0" "" "" "" "01319557_DRD4.4" "00226179" "" "" "" "1" "" "00006" "{PMID:Van Tol 1992:1319557}" "" "" "" "Canada" "" "0" "" "" "" "01319557_DRD4.7" "00226185" "" "" "" "8" "" "00006" "{PMID:Lichter 1993:8353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "" "Canada" "" "0" "" "" "" "08353495-DRD4" "00226186" "" "" "" "1" "" "00006" "{PMID:Lichter 1993:8353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "" "Canada" "" "0" "" "" "" "08353495-DRD4" "00226187" "" "" "" "2" "" "00006" "{PMID:Lichter 1993:8353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "" "Canada" "" "0" "" "" "" "08353495-DRD4" "00226188" "" "" "" "106" "" "00006" "{PMID:Lichter 1993:8353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "" "Canada" "" "0" "" "" "" "08353495-DRD4" "00226189" "" "" "" "3" "" "00006" "{PMID:Lichter 1993:8353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "" "Canada" "" "0" "" "" "" "08353495-DRD4" "00226190" "" "" "" "2" "" "00006" "{PMID:Lichter 1993:8353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "" "Canada" "" "0" "" "" "" "08353495-DRD4" "00226191" "" "" "" "2" "" "00006" "{PMID:Lichter 1993:8353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "" "Canada" "" "0" "" "" "" "08353495-DRD4" "00226192" "" "" "" "1" "" "00006" "{PMID:Lichter 1993:8353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "" "Canada" "" "0" "" "" "" "08353495-DRD4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00226177" "00000" "00226178" "00000" "00226179" "00000" "00226185" "00000" "00226186" "00000" "00226187" "00000" "00226188" "00000" "00226189" "00000" "00226190" "00000" "00226191" "00000" "00226192" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00291, 02384 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000227253" "00226177" "1" "00006" "00006" "2019-03-01 15:09:15" "00006" "2019-03-01 15:18:56" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000227254" "00226178" "1" "00006" "00006" "2019-03-01 15:09:15" "" "" "SEQ" "DNA" "" "" "0000227255" "00226179" "1" "00006" "00006" "2019-03-01 15:09:15" "" "" "SEQ" "DNA" "" "" "0000227260" "00226185" "1" "00006" "00006" "2019-03-01 16:06:24" "" "" "SEQ" "DNA" "" "" "0000227261" "00226186" "1" "00006" "00006" "2019-03-01 16:06:24" "" "" "SEQ" "DNA" "" "" "0000227262" "00226187" "1" "00006" "00006" "2019-03-01 16:06:24" "" "" "SEQ" "DNA" "" "" "0000227263" "00226188" "1" "00006" "00006" "2019-03-01 16:06:24" "" "" "SEQ" "DNA" "" "" "0000227264" "00226189" "1" "00006" "00006" "2019-03-01 16:06:24" "" "" "SEQ" "DNA" "" "" "0000227265" "00226190" "1" "00006" "00006" "2019-03-01 16:06:24" "" "" "SEQ" "DNA" "" "" "0000227266" "00226191" "1" "00006" "00006" "2019-03-01 16:06:24" "" "" "SEQ" "DNA" "" "" "0000227267" "00226192" "1" "00006" "00006" "2019-03-01 16:06:24" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000227253" "DRD4" "0000227254" "DRD4" "0000227255" "DRD4" "0000227260" "DRD4" "0000227261" "DRD4" "0000227262" "DRD4" "0000227263" "DRD4" "0000227264" "DRD4" "0000227265" "DRD4" "0000227266" "DRD4" "0000227267" "DRD4" ## 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 = 76 "{{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}}" "0000253665" "0" "10" "11" "640109" "640109" "subst" "0.00175458" "01943" "DRD4_000029" "g.640109A>C" "" "" "" "DRD4(NM_000797.3):c.860A>C (p.Q287P), DRD4(NM_000797.3):c.860delinsC (p.(Gln287Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640109A>C" "" "benign" "" "0000274929" "0" "10" "11" "644614" "644614" "subst" "0.00653977" "01943" "DEAF1_000008" "g.644614G>C" "" "" "" "DEAF1(NM_021008.2):c.1634C>G (p.(Ala545Gly)), DEAF1(NM_021008.3):c.1634C>G (p.A545G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.644614G>C" "" "benign" "" "0000275514" "0" "50" "11" "640265" "640265" "subst" "0.00150339" "01943" "DRD4_000034" "g.640265G>A" "" "" "" "DRD4(NM_000797.3):c.1016G>A (p.G339D, p.(Gly339Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640265G>A" "" "VUS" "" "0000275515" "0" "30" "11" "637462" "637462" "subst" "6.89074E-5" "01943" "DRD4_000012" "g.637462C>T" "" "" "" "DRD4(NM_000797.3):c.158C>T (p.S53L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.637462C>T" "" "likely benign" "" "0000275516" "0" "10" "11" "637539" "637551" "del" "0" "01943" "DRD4_000013" "g.637539_637551del" "" "" "" "DRD4(NM_000797.3):c.233_245del (p.(Ala79SerfsTer21)), DRD4(NM_000797.3):c.235_247delGCCGACCTCCTCC (p.A79Sfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.637539_637551del" "" "benign" "" "0000275517" "0" "50" "11" "637335" "637335" "subst" "0" "01943" "DRD4_000009" "g.637335G>T" "" "" "" "DRD4(NM_000797.3):c.31G>T (p.G11W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.637335G>T" "" "VUS" "" "0000275518" "0" "30" "11" "637355" "637355" "subst" "0.00105708" "01943" "DRD4_000010" "g.637355G>A" "" "" "" "DRD4(NM_000797.3):c.51G>A (p.G17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.637355G>A" "" "likely benign" "" "0000275519" "0" "30" "11" "640051" "640051" "subst" "0.0316973" "01943" "DRD4_000021" "g.640051G>T" "" "" "" "DRD4(NM_000797.3):c.802G>T (p.G268C, p.(Gly268Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640051G>T" "" "likely benign" "" "0000275520" "0" "30" "11" "640065" "640065" "subst" "0.00694444" "01943" "DRD4_000023" "g.640065T>C" "" "" "" "DRD4(NM_000797.3):c.816T>C (p.G272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640065T>C" "" "likely benign" "" "0000275521" "0" "30" "11" "640071" "640071" "subst" "0.00296736" "01943" "DRD4_000024" "g.640071C>T" "" "" "" "DRD4(NM_000797.3):c.822C>T (p.C274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640071C>T" "" "likely benign" "" "0000275522" "0" "30" "11" "640138" "640138" "subst" "0.000782838" "01943" "DRD4_000031" "g.640138C>G" "" "" "" "DRD4(NM_000797.3):c.889C>G (p.P297A, p.(Pro297Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640138C>G" "" "likely benign" "" "0000321851" "0" "50" "11" "637426" "637426" "subst" "8.28679E-5" "01804" "DRD4_000011" "g.637426G>T" "" "" "" "DRD4(NM_000797.3):c.122G>T (p.(Gly41Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.637426G>T" "" "VUS" "" "0000321852" "0" "50" "11" "637570" "637570" "subst" "0" "01804" "DRD4_000014" "g.637570C>T" "" "" "" "DRD4(NM_000797.3):c.266C>T (p.(Pro89Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.637570C>T" "" "VUS" "" "0000321853" "0" "50" "11" "639661" "639666" "dup" "0" "01804" "DRD4_000015" "g.639661_639666dup" "" "" "" "DRD4(NM_000797.3):c.401_402insCGTGGC (p.(Phe134_Val135insValAla))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.639661_639666dup" "" "VUS" "" "0000321854" "0" "50" "11" "639661" "639666" "del" "0" "01804" "DRD4_000016" "g.639661_639666del" "" "" "" "DRD4(NM_000797.3):c.402_407del (p.(Ala136_Val137del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.639661_639666del" "" "VUS" "" "0000321856" "0" "30" "11" "639943" "639943" "subst" "0.000112554" "01804" "DRD4_000018" "g.639943G>A" "" "" "" "DRD4(NM_000797.3):c.694G>A (p.(Gly232Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.639943G>A" "" "likely benign" "" "0000321857" "0" "50" "11" "640003" "640003" "subst" "0.000199203" "01804" "DRD4_000019" "g.640003C>T" "" "" "" "DRD4(NM_000797.3):c.754C>T (p.(Arg252Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640003C>T" "" "VUS" "" "0000321858" "0" "30" "11" "640056" "640151" "del" "0" "01804" "DRD4_000020" "g.640056_640151del" "" "" "" "DRD4(NM_000797.3):c.755_850del (p.(Pro254_Leu285del)), DRD4(NM_000797.3):c.807_902del (p.R271_P302del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640056_640151del" "" "likely benign" "" "0000321859" "0" "50" "11" "640061" "640108" "del" "0" "01804" "DRD4_000022" "g.640061_640108del" "" "" "" "DRD4(NM_000797.3):c.808_855del (p.(Arg271_Pro286del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640061_640108del" "" "VUS" "" "0000321860" "0" "50" "11" "640071" "640080" "del" "0.023338" "01804" "DRD4_000025" "g.640071_640080del" "" "" "" "DRD4(NM_000797.3):c.822_831del (p.(Gly275ValfsTer68))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640071_640080del" "" "VUS" "" "0000321861" "0" "50" "11" "640083" "640120" "del" "0" "01804" "DRD4_000026" "g.640083_640120del" "" "" "" "DRD4(NM_000797.3):c.833_870del (p.(Cys278TrpfsTer159))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640083_640120del" "" "VUS" "" "0000321862" "0" "50" "11" "640090" "640090" "subst" "0.034127" "01804" "DRD4_000027" "g.640090G>C" "" "" "" "DRD4(NM_000797.3):c.841G>C (p.(Ala281Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640090G>C" "" "VUS" "" "0000321863" "0" "30" "11" "640099" "640146" "del" "0" "01804" "DRD4_000028" "g.640099_640146del" "" "" "" "DRD4(NM_000797.3):c.850_897del (p.(Ser284_Pro299del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640099_640146del" "" "likely benign" "" "0000321864" "0" "30" "11" "640109" "640109" "subst" "0.00175458" "01804" "DRD4_000029" "g.640109A>C" "" "" "" "DRD4(NM_000797.3):c.860A>C (p.Q287P), DRD4(NM_000797.3):c.860delinsC (p.(Gln287Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640109A>C" "" "likely benign" "" "0000321865" "0" "50" "11" "640134" "640181" "del" "0" "01804" "DRD4_000030" "g.640134_640181del" "" "" "" "DRD4(NM_000797.3):c.878_925del (p.(Ala295_Cys310del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640134_640181del" "" "VUS" "" "0000321866" "0" "30" "11" "640138" "640138" "subst" "0.000782838" "01804" "DRD4_000031" "g.640138C>G" "" "" "" "DRD4(NM_000797.3):c.889C>G (p.P297A, p.(Pro297Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640138C>G" "" "likely benign" "" "0000321867" "0" "50" "11" "640157" "640157" "subst" "0.000940318" "01804" "DRD4_000032" "g.640157C>A" "" "" "" "DRD4(NM_000797.3):c.908C>A (p.(Pro303Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640157C>A" "" "VUS" "" "0000321868" "0" "50" "11" "640187" "640187" "subst" "0.00412474" "01804" "DRD4_000033" "g.640187C>G" "" "" "" "DRD4(NM_000797.3):c.938C>G (p.(Pro313Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640187C>G" "" "VUS" "" "0000321870" "0" "30" "11" "640265" "640265" "subst" "0.00150339" "01804" "DRD4_000034" "g.640265G>A" "" "" "" "DRD4(NM_000797.3):c.1016G>A (p.G339D, p.(Gly339Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640265G>A" "" "likely benign" "" "0000321871" "0" "50" "11" "640502" "640502" "subst" "0.00104061" "01804" "DRD4_000035" "g.640502T>G" "" "" "" "DRD4(NM_000797.3):c.1159T>G (p.(Trp387Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.640502T>G" "" "VUS" "" "0000321874" "0" "50" "11" "644590" "644590" "subst" "0" "01804" "DEAF1_000007" "g.644590A>C" "" "" "" "DEAF1(NM_021008.2):c.1658T>G (p.(Val553Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.644590A>C" "" "VUS" "" "0000321875" "0" "30" "11" "644614" "644614" "subst" "0.00653977" "01804" "DEAF1_000008" "g.644614G>C" "" "" "" "DEAF1(NM_021008.2):c.1634C>G (p.(Ala545Gly)), DEAF1(NM_021008.3):c.1634C>G (p.A545G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.644614G>C" "" "likely benign" "" "0000461311" "1" "10" "11" "0" "0" "" "0" "00006" "DRD4_000000" "g.=" "" "{PMID:Van Tol 1992:01319557}" "" "DRD4 4R" "reference haplotype DRD4*4R; clear sodium chloride sensitivity for clozapine and spiperone binding" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000461312" "1" "10" "11" "640056" "640151" "del" "0" "00006" "DRD4_000001" "g.640056_640151del" "" "{PMID:Van Tol 1992:01319557}" "" "DRD4.2 (793_888del)" "reference haplotype DRD4*2R; clear sodium chloride sensitivity for clozapine and spiperone binding" "Germline" "" "" "0" "" "" "g.640056_640151del" "" "benign" "" "0000461314" "1" "10" "11" "640099" "640099" "subst" "0.0356109" "00006" "DRD4_000006" "g.640099A>G" "" "{PMID:Van Tol 1992:01319557}" "" "" "" "Germline" "" "" "0" "" "" "g.640099A>G" "" "benign" "" "0000461315" "1" "10" "11" "640090" "640090" "subst" "0.034127" "00006" "DRD4_000027" "g.640090G>C" "" "{PMID:Van Tol 1992:01319557}" "" "" "" "Germline" "" "" "0" "" "" "g.640090G>C" "" "benign" "" "0000461317" "1" "70" "11" "640098" "640099" "ins" "0" "00006" "DRD4_000036" "g.640098_640099ins[640147_640157;640014_640051;640004_640098]" "" "{PMID:Van Tol 1992:01319557}" "" "" "reference haplotype DRD4*7R; no sodium chloride sensitivity for clozapine and spiperone binding" "Germline" "" "" "0" "" "" "" "" "benign (!)" "" "0000461320" "1" "10" "11" "640056" "640151" "del" "0" "00006" "DRD4_000001" "g.640056_640151del" "8/178 chromosomes" "{PMID:Lichter 1993:08353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "reference haplotype DRD4*R2-alpha/zeta" "Germline" "-" "" "0" "" "" "g.640056_640151del" "" "benign" "" "0000461321" "1" "10" "11" "640071" "640119" "del" "0" "00006" "DRD4_000003" "g.640071_640119delinsT" "1/178 chromosomes" "{PMID:Lichter 1993:08353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "reference haplotype DRD4*3R-alpha/nu/zeta" "Germline" "" "" "0" "" "" "g.640071_640119delinsT" "" "benign" "" "0000461322" "1" "10" "11" "640061" "640108" "del" "0" "00006" "DRD4_000004" "g.640061_640108del" "2/178 chromosomes" "{PMID:Lichter 1993:08353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "reference haplotype DRD4*3R-alpha/gamma/zeta" "Germline" "-" "" "0" "" "" "g.640061_640108del" "" "benign" "" "0000461323" "1" "10" "11" "640119" "640119" "subst" "0.738424" "00006" "DRD4_000005" "g.640119C>T" "106/178 chromosomes" "{PMID:Lichter 1993:08353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "reference haplotype DRD4*4R-alpha/beta/theta/zeta" "Germline" "-" "" "0" "" "" "g.640119C>T" "" "benign" "" "0000461324" "1" "10" "11" "0" "0" "" "0" "00006" "DRD4_000000" "g.=" "3/178 chromosomes" "{PMID:Lichter 1993:08353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "reference haplotype DRD4*4R-alpha/beta/delta/zeta" "Germline" "-" "" "0" "" "" "" "" "benign" "" "0000461325" "1" "10" "11" "640099" "640099" "subst" "0.0356109" "00006" "DRD4_000006" "g.640099A>G" "2/178 chromosomes" "{PMID:Lichter 1993:08353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "reference haplotype DRD4*4R-alpha/beta/psi/zeta" "Germline" "-" "" "0" "" "" "g.640099A>G" "" "benign" "" "0000461326" "1" "10" "11" "640099" "640099" "subst" "0.0356109" "00006" "DRD4_000006" "g.640099A>G" "2/178 chromosomes" "{PMID:Lichter 1993:08353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "reference haplotype DRD4*4R-alpha/beta/mu/zeta" "Germline" "" "" "0" "" "" "g.640099A>G" "" "benign" "" "0000461327" "1" "10" "11" "640056" "640065" "del" "0" "00006" "DRD4_000008" "g.640056_640065delinsGCCTTCCCCG" "1/178 chromosomes" "{PMID:Lichter 1993:08353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "reference haplotype DRD4*4R-alpha/omicron/theta/zeta" "Germline" "" "" "0" "" "" "g.640056_640065delinsGCCTTCCCCG" "" "benign" "" "0000461328" "1" "30" "11" "640119" "640119" "subst" "0.738424" "00006" "DRD4_000005" "g.640119C>T" "2/178 chromosomes" "{PMID:Lichter 1993:08353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "reference haplotype DRD4*4R-alpha/beta/mu/zeta" "Germline" "" "" "0" "" "" "g.640119C>T" "" "benign" "" "0000461329" "1" "10" "11" "640119" "640119" "subst" "0.738424" "00006" "DRD4_000005" "g.640119C>T" "2/178 chromosomes" "{PMID:Lichter 1993:08353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "DRD4*3R-alpha/gamma/zeta" "Germline" "" "" "0" "" "" "g.640119C>T" "" "benign" "" "0000461330" "1" "10" "11" "640119" "640119" "subst" "0.738424" "00006" "DRD4_000005" "g.640119C>T" "1/178 chromosomes" "{PMID:Lichter 1993:08353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "reference haplotype DRD4*4R-alpha/omicron/theta/zeta" "Germline" "" "" "0" "" "" "g.640119C>T" "" "benign" "" "0000461331" "1" "30" "11" "640078" "640078" "subst" "0" "00006" "DRD4_000037" "g.640078G>A" "1/178 chromosomes" "{PMID:Lichter 1993:08353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "reference haplotype DRD4*4R-alpha/omicron/theta/zeta" "Germline" "" "" "0" "" "" "g.640078G>A" "" "benign" "" "0000461332" "1" "30" "11" "640075" "640075" "subst" "0" "00006" "DRD4_000038" "g.640075C>T" "1/178 chromosomes" "{PMID:Lichter 1993:08353495}, {DOI:Lichter 1993:10.1093/hmg/2.6.767}" "" "" "reference haplotype DRD4*4R-alpha/omicron/theta/zeta" "Germline" "" "" "0" "" "" "g.640075C>T" "" "benign" "" "0000544801" "0" "30" "11" "637539" "637551" "del" "0" "01804" "DRD4_000013" "g.637539_637551del" "" "" "" "DRD4(NM_000797.3):c.233_245del (p.(Ala79SerfsTer21)), DRD4(NM_000797.3):c.235_247delGCCGACCTCCTCC (p.A79Sfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.637539_637551del" "" "likely benign" "" "0000544820" "0" "30" "11" "640051" "640051" "subst" "0.0316973" "01804" "DRD4_000021" "g.640051G>T" "" "" "" "DRD4(NM_000797.3):c.802G>T (p.G268C, p.(Gly268Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.640051G>T" "" "likely benign" "" "0000544821" "0" "30" "11" "640061" "640061" "subst" "0.00608273" "01804" "DEAF1_000023" "g.640061G>A" "" "" "" "DRD4(NM_000797.3):c.812G>A (p.(Arg271Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.640061G>A" "" "likely benign" "" "0000544822" "0" "50" "11" "640061" "640061" "subst" "0" "01804" "DEAF1_000024" "g.640061G>C" "" "" "" "DRD4(NM_000797.3):c.812G>C (p.(Arg271Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.640061G>C" "" "VUS" "" "0000544823" "0" "30" "11" "640064" "640064" "subst" "0.00659631" "01804" "DEAF1_000025" "g.640064G>A" "" "" "" "DRD4(NM_000797.3):c.815G>A (p.(Gly272Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.640064G>A" "" "likely benign" "" "0000544824" "0" "50" "11" "640090" "640137" "del" "0.0152778" "01804" "DEAF1_000026" "g.640090_640137del" "" "" "" "DRD4(NM_000797.3):c.817_864del (p.(Cys274_Pro289del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.640090_640137del" "" "VUS" "" "0000544825" "0" "30" "11" "640099" "640099" "subst" "0" "01804" "DEAF1_000027" "g.640099A>C" "" "" "" "DRD4(NM_000797.3):c.850A>C (p.(Ser284Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.640099A>C" "" "likely benign" "" "0000544830" "0" "30" "11" "640174" "640174" "subst" "0.00060594" "01804" "DEAF1_000032" "g.640174A>G" "" "" "" "DRD4(NM_000797.3):c.925A>G (p.(Asn309Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.640174A>G" "" "likely benign" "" "0000544832" "0" "10" "11" "640253" "640253" "subst" "0.00260333" "01943" "DEAF1_000034" "g.640253C>G" "" "" "" "DRD4(NM_000797.3):c.1004C>G (p.A335G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.640253C>G" "" "benign" "" "0000613510" "0" "30" "11" "640044" "640044" "subst" "0" "01943" "DEAF1_000056" "g.640044C>T" "" "" "" "DRD4(NM_000797.3):c.795C>T (p.P265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.640044C>T" "" "likely benign" "" "0000613511" "0" "30" "11" "640075" "640075" "subst" "0" "01943" "DRD4_000038" "g.640075C>T" "" "" "" "DRD4(NM_000797.3):c.826C>T (p.P276S, p.(Pro276Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.640075C>T" "" "likely benign" "" "0000613512" "0" "50" "11" "640075" "640075" "subst" "0" "01804" "DRD4_000038" "g.640075C>T" "" "" "" "DRD4(NM_000797.3):c.826C>T (p.P276S, p.(Pro276Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.640075C>T" "" "VUS" "" "0000613513" "0" "30" "11" "640078" "640078" "subst" "0" "01943" "DRD4_000037" "g.640078G>A" "" "" "" "DRD4(NM_000797.3):c.829G>A (p.D277N, p.(Asp277Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.640078G>A" "" "likely benign" "" "0000613514" "0" "50" "11" "640078" "640078" "subst" "0" "01804" "DRD4_000037" "g.640078G>A" "" "" "" "DRD4(NM_000797.3):c.829G>A (p.D277N, p.(Asp277Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.640078G>A" "" "VUS" "" "0000805242" "0" "10" "11" "640056" "640151" "del" "0" "01943" "DRD4_000001" "g.640056_640151del" "" "" "" "DRD4(NM_000797.3):c.755_850del (p.(Pro254_Leu285del)), DRD4(NM_000797.3):c.807_902del (p.R271_P302del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853070" "0" "30" "11" "640098" "640098" "subst" "0" "01943" "DEAF1_000079" "g.640098C>A" "" "" "" "DRD4(NM_000797.3):c.849C>A (p.P283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862619" "0" "90" "11" "640059" "640072" "del" "0" "01943" "DEAF1_000078" "g.640059_640072del" "" "" "" "DRD4(NM_000797.3):c.810_823delCCGGGGTCCCTGCG (p.R271Pfs*174)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890043" "0" "50" "11" "644597" "644597" "subst" "0" "02325" "DEAF1_000081" "g.644597C>G" "" "" "" "DEAF1(NM_021008.4):c.1651G>C (p.D551H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925458" "0" "50" "11" "639460" "639460" "subst" "4.52919E-6" "02325" "DEAF1_000084" "g.639460C>A" "" "" "" "DRD4(NM_000797.4):c.313C>A (p.P105T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946218" "0" "50" "11" "640109" "640109" "del" "0" "03779" "DRD4_000039" "g.640109del" "" "" "" "" "" "CLASSIFICATION record" "" "rs1344788742" "0" "" "" "" "" "VUS" "" "0001038565" "0" "50" "11" "639519" "639520" "del" "0" "01804" "DEAF1_000105" "g.639519_639520del" "" "" "" "DRD4(NM_000797.4):c.372_373del (p.(Phe124Leufs*325))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038568" "0" "30" "11" "639830" "639830" "subst" "0.00351921" "01804" "DEAF1_000106" "g.639830T>G" "" "" "" "DRD4(NM_000797.4):c.581T>G (p.(Val194Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038571" "0" "30" "11" "640305" "640305" "subst" "0.0034538" "01804" "DEAF1_000107" "g.640305C>G" "" "" "" "DRD4(NM_000797.4):c.1056C>G (p.(Val352=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053751" "0" "50" "11" "640003" "640003" "subst" "0.000199203" "01804" "DEAF1_000116" "g.640003C>G" "" "" "" "DRD4(NM_000797.4):c.754C>G (p.(Arg252Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053752" "0" "50" "11" "640109" "640109" "del" "0" "01804" "DRD4_000039" "g.640109del" "" "" "" "DRD4(NM_000797.4):c.860del (p.(Gln287Argfs*59))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053753" "0" "50" "11" "644633" "644633" "subst" "4.11191E-6" "01804" "DEAF1_000117" "g.644633T>C" "" "" "" "DEAF1(NM_021008.4):c.1615A>G (p.(Ile539Val))" "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 DRD4 ## Count = 76 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000253665" "00006694" "10" "860" "0" "860" "0" "c.860A>C" "r.(?)" "p.(Gln287Pro)" "" "" "0000274929" "00006694" "10" "5271" "0" "5271" "0" "c.*4011G>C" "r.(=)" "p.(=)" "" "" "0000275514" "00006694" "50" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Gly339Asp)" "" "" "0000275515" "00006694" "30" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Ser53Leu)" "" "" "0000275516" "00006694" "10" "235" "0" "247" "0" "c.235_247del" "r.(?)" "p.(Ala79SerfsTer21)" "" "" "0000275517" "00006694" "50" "31" "0" "31" "0" "c.31G>T" "r.(?)" "p.(Gly11Trp)" "" "" "0000275518" "00006694" "30" "51" "0" "51" "0" "c.51G>A" "r.(?)" "p.(Gly17=)" "" "" "0000275519" "00006694" "30" "802" "0" "802" "0" "c.802G>T" "r.(?)" "p.(Gly268Cys)" "" "" "0000275520" "00006694" "30" "816" "0" "816" "0" "c.816T>C" "r.(?)" "p.(Gly272=)" "" "" "0000275521" "00006694" "30" "822" "0" "822" "0" "c.822C>T" "r.(?)" "p.(Cys274=)" "" "" "0000275522" "00006694" "30" "889" "0" "889" "0" "c.889C>G" "r.(?)" "p.(Pro297Ala)" "" "" "0000321851" "00006694" "50" "122" "0" "122" "0" "c.122G>T" "r.(?)" "p.(Gly41Val)" "" "" "0000321852" "00006694" "50" "266" "0" "266" "0" "c.266C>T" "r.(?)" "p.(Pro89Leu)" "" "" "0000321853" "00006694" "50" "412" "0" "417" "0" "c.412_417dup" "r.(?)" "p.(Ala138_Val139dup)" "" "" "0000321854" "00006694" "50" "412" "0" "417" "0" "c.412_417del" "r.(?)" "p.(Ala138_Val139del)" "" "" "0000321856" "00006694" "30" "694" "0" "694" "0" "c.694G>A" "r.(?)" "p.(Gly232Ser)" "" "" "0000321857" "00006694" "50" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Cys)" "" "" "0000321858" "00006694" "30" "807" "0" "902" "0" "c.807_902del" "r.(?)" "p.(Arg271_Pro302del)" "" "" "0000321859" "00006694" "50" "812" "0" "859" "0" "c.812_859del" "r.(?)" "p.(Arg271_Pro286del)" "" "" "0000321860" "00006694" "50" "822" "0" "831" "0" "c.822_831del" "r.(?)" "p.(Gly275ValfsTer68)" "" "" "0000321861" "00006694" "50" "834" "0" "871" "0" "c.834_871del" "r.(?)" "p.(Cys278TrpfsTer159)" "" "" "0000321862" "00006694" "50" "841" "0" "841" "0" "c.841G>C" "r.(?)" "p.(Ala281Pro)" "" "" "0000321863" "00006694" "30" "850" "0" "897" "0" "c.850_897del" "r.(?)" "p.(Ser284_Pro299del)" "" "" "0000321864" "00006694" "30" "860" "0" "860" "0" "c.860A>C" "r.(?)" "p.(Gln287Pro)" "" "" "0000321865" "00006694" "50" "885" "0" "932" "0" "c.885_932del" "r.(?)" "p.(Ala298_Pro313del)" "" "" "0000321866" "00006694" "30" "889" "0" "889" "0" "c.889C>G" "r.(?)" "p.(Pro297Ala)" "" "" "0000321867" "00006694" "50" "908" "0" "908" "0" "c.908C>A" "r.(?)" "p.(Pro303Gln)" "" "" "0000321868" "00006694" "50" "938" "0" "938" "0" "c.938C>G" "r.(?)" "p.(Pro313Arg)" "" "" "0000321870" "00006694" "30" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Gly339Asp)" "" "" "0000321871" "00006694" "50" "1159" "0" "1159" "0" "c.1159T>G" "r.(?)" "p.(Trp387Gly)" "" "" "0000321874" "00006694" "50" "5247" "0" "5247" "0" "c.*3987A>C" "r.(=)" "p.(=)" "" "" "0000321875" "00006694" "30" "5271" "0" "5271" "0" "c.*4011G>C" "r.(=)" "p.(=)" "" "" "0000461311" "00006694" "10" "745" "0" "936" "0" "c.745_936=" "r.745_936=" "p.Pro249_Pro312=" "3" "DRD4*4R" "0000461312" "00006694" "10" "807" "0" "902" "0" "c.807_902del" "r.807_902del" "p.Arg271_Pro302del" "3" "DRD4*4R" "0000461314" "00006694" "10" "850" "0" "850" "0" "c.850A>G" "r.850a>g" "p.Ser284Gly" "3" "DRD4*7R" "0000461315" "00006694" "10" "841" "0" "841" "0" "c.841G>C" "r.(?)" "p.(Ala281Pro)" "3" "DRD4*7R" "0000461317" "00006694" "70" "849" "0" "850" "0" "c.849_850ins[898_908;765_802;755_849]" "r.849_850ins[898_908;765_802;755_849]" "p.Pro283_Ser284ins48" "3" "DRD4*7R" "0000461320" "00006694" "10" "807" "0" "902" "0" "c.807_902del" "r.(?)" "p.(Arg271_Pro302del)" "3" "DRD4*2R" "0000461321" "00006694" "10" "822" "0" "870" "0" "c.822_870delinsT" "r.(?)" "p.(Ala281_Pro296del)" "3" "DRD4*3R" "0000461322" "00006694" "10" "812" "0" "859" "0" "c.812_859del" "r.(?)" "p.(Arg271_Pro286del)" "3" "DRD4*3R" "0000461323" "00006694" "10" "870" "0" "870" "0" "c.870C>T" "r.(=)" "p.(Cys290=)" "3" "DRD4*4R" "0000461324" "00006694" "10" "745" "0" "936" "0" "c.745_936=" "r.(=)" "p.(Pro249_Pro312=)" "3" "DRD4*4R" "0000461325" "00006694" "10" "850" "0" "850" "0" "c.850A>G" "r.(?)" "p.(Ser284Gly)" "3" "DRD4*4R" "0000461326" "00006694" "10" "850" "0" "850" "0" "c.850A>G" "r.(?)" "p.(Ser284Gly)" "3" "DRD4*4R" "0000461327" "00006694" "10" "807" "0" "816" "0" "c.807_816delinsGCCTTCCCCG" "r.(?)" "p.(Arg271_Gly272delinsSerPro)" "3" "DRD4*4R" "0000461328" "00006694" "30" "870" "0" "870" "0" "c.870C>T" "r.(=)" "p.(=)" "3" "DRD4*4R" "0000461329" "00006694" "10" "870" "0" "870" "0" "c.870C>T" "r.(=)" "p.(=)" "3" "DRD4*3R" "0000461330" "00006694" "10" "870" "0" "870" "0" "c.870C>T" "r.(=)" "p.(=)" "3" "DRD4*4R" "0000461331" "00006694" "30" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Asp277Asn)" "3" "DRD4*4R" "0000461332" "00006694" "30" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Pro276Ser)" "3" "DRD4*4R" "0000544801" "00006694" "30" "235" "0" "247" "0" "c.235_247del" "r.(?)" "p.(Ala79SerfsTer21)" "" "" "0000544820" "00006694" "30" "802" "0" "802" "0" "c.802G>T" "r.(?)" "p.(Gly268Cys)" "" "" "0000544821" "00006694" "30" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Arg271Gln)" "" "" "0000544822" "00006694" "50" "812" "0" "812" "0" "c.812G>C" "r.(?)" "p.(Arg271Pro)" "" "" "0000544823" "00006694" "30" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Gly272Asp)" "" "" "0000544824" "00006694" "50" "841" "0" "888" "0" "c.841_888del" "r.(?)" "p.(Ala281_Pro296del)" "" "" "0000544825" "00006694" "30" "850" "0" "850" "0" "c.850A>C" "r.(?)" "p.(Ser284Arg)" "" "" "0000544830" "00006694" "30" "925" "0" "925" "0" "c.925A>G" "r.(?)" "p.(Asn309Asp)" "" "" "0000544832" "00006694" "10" "1004" "0" "1004" "0" "c.1004C>G" "r.(?)" "p.(Ala335Gly)" "" "" "0000613510" "00006694" "30" "795" "0" "795" "0" "c.795C>T" "r.(?)" "p.(Pro265=)" "" "" "0000613511" "00006694" "30" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Pro276Ser)" "" "" "0000613512" "00006694" "50" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Pro276Ser)" "" "" "0000613513" "00006694" "30" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Asp277Asn)" "" "" "0000613514" "00006694" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Asp277Asn)" "" "" "0000805242" "00006694" "10" "807" "0" "902" "0" "c.807_902del" "r.(?)" "p.(Arg271_Pro302del)" "" "" "0000853070" "00006694" "30" "849" "0" "849" "0" "c.849C>A" "r.(?)" "p.(Pro283=)" "" "" "0000862619" "00006694" "90" "810" "0" "823" "0" "c.810_823del" "r.(?)" "p.(Arg271Profs*174)" "" "" "0000890043" "00006694" "50" "5254" "0" "5254" "0" "c.*3994C>G" "r.(=)" "p.(=)" "" "" "0000925458" "00006694" "50" "313" "0" "313" "0" "c.313C>A" "r.(?)" "p.(Pro105Thr)" "" "" "0000946218" "00006694" "50" "860" "0" "860" "0" "c.860del" "r.(?)" "p.(Gln287ArgfsTer59)" "" "" "0001038565" "00006694" "50" "372" "0" "373" "0" "c.372_373del" "r.(?)" "p.(Phe124Leufs*325)" "" "" "0001038568" "00006694" "30" "581" "0" "581" "0" "c.581T>G" "r.(?)" "p.(Val194Gly)" "" "" "0001038571" "00006694" "30" "1056" "0" "1056" "0" "c.1056C>G" "r.(?)" "p.(=)" "" "" "0001053751" "00006694" "50" "754" "0" "754" "0" "c.754C>G" "r.(?)" "p.(Arg252Gly)" "" "" "0001053752" "00006694" "50" "860" "0" "860" "0" "c.860del" "r.(?)" "p.(Gln287Argfs*59)" "" "" "0001053753" "00006694" "50" "5290" "0" "5290" "0" "c.*4030T>C" "r.(=)" "p.(=)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000227253" "0000461311" "0000227254" "0000461312" "0000227255" "0000461314" "0000227255" "0000461315" "0000227255" "0000461317" "0000227260" "0000461320" "0000227261" "0000461321" "0000227262" "0000461322" "0000227262" "0000461329" "0000227263" "0000461323" "0000227264" "0000461324" "0000227265" "0000461325" "0000227266" "0000461326" "0000227266" "0000461328" "0000227267" "0000461327" "0000227267" "0000461330" "0000227267" "0000461331" "0000227267" "0000461332"