### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC6A3) # 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}}" "SLC6A3" "solute carrier family 6 (neurotransmitter transporter, dopamine), member 3" "5" "p15.3" "unknown" "NG_015885.1" "UD_132119139203" "" "https://www.LOVD.nl/SLC6A3" "" "1" "11049" "6531" "126455" "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/SLC6A3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-06-12 00:00:00" "00006" "2017-07-06 07:56:05" "00000" "2024-04-19 20:27:30" ## 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}}" "00019036" "SLC6A3" "solute carrier family 6 (neurotransmitter transporter, dopamine), member 3" "001" "NM_001044.4" "" "NP_001035.1" "" "" "" "-126" "3808" "1863" "1445543" "1392905" "" "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}}" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "01586" "nicotine" "addiction, nicotine, susceptibility to" "" "188890" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-10-23 16:02:32" "03268" "PKDYS1;DTDS" "Parkinsonism-dystonia, infantile (PKDYS, dopamine transporter deficiency syndrome (DTDS))" "AR" "613135" "" "" "" "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 = 2 "{{geneid}}" "{{diseaseid}}" "SLC6A3" "01586" "SLC6A3" "03268" ## 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}}" "00117474" "" "" "" "1" "" "02134" "{PMID:Kurian 2010:21112253}" "" "" "" "" "" "0" "" "" "European, mixed" "" "00117475" "" "" "" "1" "" "02134" "{PMID:Kurian 2010:21112253}" "" "" "" "" "" "0" "" "" "European, mixed" "" "00117476" "" "" "" "1" "" "02134" "{PMID:Kurian 2010:21112253}" "" "" "" "" "" "0" "" "" "European, mixed" "" "00117477" "" "" "" "1" "" "02134" "{PMID:Kurian 2010:21112253}" "" "" "" "" "" "0" "" "" "European, mixed" "" "00117478" "" "" "" "1" "" "02134" "{PMID:Kurian 2010:21112253}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00117479" "" "" "" "1" "" "00006" "{PMID:Kurian 2009:19478460}" "" "" "" "Pakistan" "" "0" "" "" "Pakistani" "" "00117480" "" "" "" "1" "" "00006" "{PMID:Kurian 2010:21112253}" "" "" "" "" "" "0" "" "" "European, mixed" "" "00117481" "" "" "" "1" "" "00096" "{PMID:Kurian 2010:21112253}" "" "" "" "" "" "0" "" "" "European, mixed" "" "00117482" "" "" "" "1" "" "02134" "{PMID:Kurian 2010:21112253}" "" "" "" "" "" "0" "" "" "European, mixed" "" "00117483" "" "" "" "1" "" "02134" "{PMID:Kurian 2010:21112253}" "" "" "" "" "" "0" "" "" "European, mixed" "" "00117484" "" "" "" "1" "" "02134" "{PMID:Mazei-Robison 2005:16171832}" "ADHD Patient" "" "" "" "" "0" "" "" "" "" "00265597" "" "" "" "1" "" "03388" "{PMID:Heidari 2020:32077500}" "4-generation family, 2 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "" "0" "" "" "Persian" "DTDS-SLC6A3" "00408972" "" "" "" "1" "" "00000" "{PMID:Puffenberger 2012:22279524}" "no patient number in publication, consecutive numbers given" "?" "" "" "" "0" "" "" "Old Order Amish and Mennonite" "1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00117474" "03268" "00117475" "03268" "00117476" "03268" "00117477" "03268" "00117478" "03268" "00117479" "03268" "00117480" "03268" "00117481" "03268" "00117482" "03268" "00117483" "03268" "00117484" "00291" "00265597" "03268" "00408972" "03268" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00291, 01586, 03268 ## Count = 13 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000092944" "03268" "00117474" "02134" "Unknown" "" "Dopamine Transporter deficiency syndrome" "" "" "" "" "" "" "" "" "" "0000092945" "03268" "00117475" "02134" "Unknown" "" "Dopamine Transporter deficiency syndrome" "" "" "" "" "" "" "" "" "" "0000092946" "03268" "00117476" "02134" "Unknown" "" "Dopamine Transporter deficiency syndrome" "" "" "" "" "" "" "" "" "" "0000092947" "03268" "00117477" "02134" "Unknown" "" "Dopamine Transporter deficiency syndrome" "" "" "" "" "" "" "" "" "" "0000092948" "03268" "00117478" "02134" "Unknown" "" "Dopamine Transporter deficiency syndrome" "" "" "" "" "" "" "" "" "" "0000092949" "03268" "00117479" "00006" "Unknown" "" "Dopamine Transporter deficiency syndrome" "" "" "" "" "" "" "" "" "" "0000092950" "03268" "00117480" "00006" "Unknown" "" "Dopamine Transporter deficiency syndrome" "" "" "" "" "" "" "" "" "" "0000092951" "03268" "00117481" "00096" "Unknown" "" "Dopamine Transporter deficiency syndrome" "" "" "" "" "" "" "" "" "" "0000092952" "03268" "00117482" "02134" "Unknown" "" "Dopamine Transporter deficiency syndrome" "" "" "" "" "" "" "" "" "" "0000092953" "03268" "00117483" "02134" "Unknown" "" "Dopamine Transporter deficiency syndrome" "" "" "" "" "" "" "" "" "" "0000092954" "00291" "00117484" "02134" "Unknown" "" "attention-deficit hyperactivity disorder" "" "" "" "" "" "" "" "" "" "0000203384" "03268" "00265597" "03388" "Familial, autosomal recessive" "03y?" "HP:0002015, HP:0002355, HP:0000750, HP:0002355, HP:0002015, HP:0002141, HP:0001347, HP:0000737, HP:0002451" "?" "03y?" "HP:0002015, HP:0002355, HP:0000750, HP:0002355, HP:0002015, HP:0002141, HP:0001347, HP:0000737, HP:0002451" "SLC6A3" "" "" "" "dopamine transporter deficiency syndrome" "dopamine transporter deficiency syndrome" "0000301090" "03268" "00408972" "00000" "Familial, autosomal recessive" "" "infantile-onset rigidity, dystonia, or chorea; dopamine non-responsive parkinsonism; progressive frontal lobe degeneration" "" "" "" "" "" "" "" "Parkinsonism-dystonia, infantile (PKDYS, dopamine transporter deficiency syndrome (DTDS))" "" ## 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}}" "0000117937" "00117474" "1" "02134" "00006" "2011-06-08 16:13:17" "00004" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000117938" "00117475" "1" "02134" "00006" "2011-06-08 15:45:29" "00004" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000117939" "00117476" "1" "02134" "00006" "2011-06-08 16:21:45" "00004" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000117940" "00117477" "1" "02134" "00006" "2011-06-08 16:37:33" "00004" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000117941" "00117478" "1" "02134" "00006" "2011-06-08 16:08:05" "00004" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000117942" "00117479" "1" "00006" "00006" "2009-06-18 16:45:49" "00004" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000117943" "00117480" "1" "00006" "00006" "2011-06-07 16:47:16" "00004" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000117944" "00117481" "1" "00096" "00006" "2011-03-16 13:10:07" "00004" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000117945" "00117482" "1" "02134" "00006" "2011-08-11 14:03:32" "" "" "SEQ" "DNA" "" "" "0000117946" "00117483" "1" "02134" "00006" "2011-06-08 16:18:08" "00004" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000117947" "00117484" "1" "02134" "00006" "2011-08-11 15:05:24" "" "" "SEQ" "DNA" "" "" "0000266720" "00265597" "1" "03388" "03388" "2019-09-27 09:34:51" "" "" "SEQ;SEQ-NG" "DNA" "Blood" "WES" "0000410237" "00408972" "1" "00000" "03840" "2022-04-29 17:32:37" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "targeted gene analysis or a next-generation sequencing-based gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000117937" "SLC6A3" "0000117938" "SLC6A3" "0000117939" "SLC6A3" "0000117940" "SLC6A3" "0000117941" "SLC6A3" "0000117942" "SLC6A3" "0000117943" "SLC6A3" "0000117944" "SLC6A3" "0000117945" "SLC6A3" "0000117946" "SLC6A3" "0000117947" "SLC6A3" "0000266720" "SLC6A3" "0000410237" "SLC6A3" ## 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 = 83 "{{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}}" "0000193899" "3" "99" "5" "1441493" "1441493" "del" "0" "02134" "SLC6A3_000007" "g.1441493del" "" "{PMID:Kurian 2010:21112253}" "" "" "" "Germline" "" "" "0" "" "" "g.1441378del" "" "pathogenic" "" "0000193900" "1" "99" "5" "1432760" "1432760" "subst" "0" "02134" "SLC6A3_000004" "g.1432760C>A" "" "{PMID:Kurian 2010:21112253}" "" "" "" "Germline" "" "" "0" "" "" "g.1432645C>A" "" "pathogenic" "" "0000193901" "3" "99" "5" "1422112" "1422112" "subst" "0" "02134" "SLC6A3_000009" "g.1422112A>G" "" "{PMID:Kurian 2010:21112253}" "" "" "" "Germline" "" "" "0" "" "" "g.1421997A>G" "" "pathogenic" "" "0000193902" "1" "99" "5" "1416265" "1416265" "subst" "4.06468E-6" "02134" "SLC6A3_000010" "g.1416265C>T" "" "{PMID:Kurian 2010:21112253}" "" "" "" "Germline" "" "" "0" "" "" "g.1416150C>T" "" "pathogenic" "" "0000193903" "3" "99" "5" "1416212" "1416212" "subst" "0" "02134" "SLC6A3_000006" "g.1416212C>T" "" "{PMID:Kurian 2010:21112253}" "" "" "" "Germline" "" "" "0" "" "" "g.1416097C>T" "" "pathogenic" "" "0000193904" "3" "99" "5" "1414859" "1414859" "subst" "0" "00006" "SLC6A3_000001" "g.1414859A>T" "" "{PMID:Kurian 2009:19478460}" "" "" "" "Germline" "" "" "0" "" "" "g.1414744A>T" "" "pathogenic" "" "0000193905" "3" "99" "5" "1414801" "1414801" "del" "0" "00006" "SLC6A3_000003" "g.1414801del" "" "{PMID:Kurian 2010:21112253}" "" "" "" "Germline" "" "" "0" "" "" "g.1414686del" "" "pathogenic" "" "0000193906" "3" "99" "5" "1411443" "1411443" "subst" "6.6394E-6" "00096" "SLC6A3_000002" "g.1411443G>A" "" "{PMID:Kurian 2010:21112253}" "" "" "" "Germline" "" "" "0" "" "" "g.1411328G>A" "" "pathogenic" "" "0000193907" "2" "99" "5" "1409919" "1409919" "subst" "0" "02134" "SLC6A3_000011" "g.1409919G>A" "" "{PMID:Kurian 2010:21112253}" "" "" "" "Germline" "" "" "0" "" "" "g.1409804G>A" "" "pathogenic" "" "0000193908" "3" "99" "5" "1403039" "1406405" "del" "0" "02134" "SLC6A3_000013" "g.1403039_1406405del" "" "{PMID:Kurian 2010:21112253}" "" "" "" "Germline" "" "" "0" "" "" "g.1402924_1406290del" "" "pathogenic" "" "0000193909" "3" "99" "5" "1406341" "1406341" "subst" "8.16533E-6" "02134" "SLC6A3_000008" "g.1406341G>A" "" "{PMID:Kurian 2010:21112253}" "" "" "" "Germline" "" "" "0" "" "" "g.1406226G>A" "" "pathogenic" "" "0000193910" "2" "99" "5" "1406316" "1406316" "subst" "0" "02134" "SLC6A3_000012" "g.1406316G>A" "" "{PMID:Kurian 2010:21112253}" "" "" "" "Germline" "" "" "0" "" "" "g.1406201G>A" "" "pathogenic" "" "0000193911" "2" "99" "5" "1403143" "1403143" "subst" "0" "02134" "SLC6A3_000005" "g.1403143G>A" "" "{PMID:Kurian 2010:21112253}" "" "" "" "Germline" "" "" "0" "" "" "g.1403028G>A" "" "pathogenic" "" "0000193912" "0" "55" "5" "1403128" "1403128" "subst" "0.000540826" "02134" "SLC6A3_000014" "g.1403128G>A" "" "{PMID:Mazei-Robison 2005:16171832}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.1403013G>A" "" "VUS" "" "0000298337" "0" "10" "5" "1414927" "1414927" "subst" "0.00220787" "02325" "SLC6A3_000030" "g.1414927G>A" "" "" "" "SLC6A3(NM_001044.4):c.1035C>T (p.D345=), SLC6A3(NM_001044.5):c.1035C>T (p.D345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1414812G>A" "" "benign" "" "0000298338" "0" "30" "5" "1414807" "1414807" "subst" "0.000469089" "02325" "SLC6A3_000027" "g.1414807G>A" "" "" "" "SLC6A3(NM_001044.5):c.1155C>T (p.D385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1414692G>A" "" "likely benign" "" "0000298339" "0" "30" "5" "1411433" "1411433" "subst" "1.31477E-5" "02325" "SLC6A3_000025" "g.1411433G>A" "" "" "" "SLC6A3(NM_001044.5):c.1194C>T (p.I398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1411318G>A" "" "likely benign" "" "0000298340" "0" "30" "5" "1409836" "1409836" "subst" "0.00166625" "02325" "SLC6A3_000023" "g.1409836G>A" "" "" "" "SLC6A3(NM_001044.4):c.1398C>T (p.N466=), SLC6A3(NM_001044.5):c.1398C>T (p.N466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1409721G>A" "" "likely benign" "" "0000298341" "0" "10" "5" "1409127" "1409127" "subst" "0.959149" "02325" "SLC6A3_000021" "g.1409127T>C" "" "" "" "SLC6A3(NM_001044.4):c.1498+14A>G, SLC6A3(NM_001044.5):c.1498+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1409012T>C" "" "benign" "" "0000298342" "0" "30" "5" "1403212" "1403212" "subst" "0" "02325" "SLC6A3_000020" "g.1403212C>A" "" "" "" "SLC6A3(NM_001044.5):c.1600-8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1403097C>A" "" "likely benign" "" "0000298343" "0" "30" "5" "1443151" "1443151" "subst" "0.00700707" "02325" "SLC6A3_000041" "g.1443151G>A" "" "" "" "SLC6A3(NM_001044.4):c.162C>T (p.P54=), SLC6A3(NM_001044.5):c.162C>T (p.P54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1443036G>A" "" "likely benign" "" "0000298344" "0" "30" "5" "1403024" "1403024" "subst" "0.00129769" "02325" "SLC6A3_000017" "g.1403024T>C" "" "" "" "SLC6A3(NM_001044.5):c.1767+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1402909T>C" "" "likely benign" "" "0000298345" "0" "50" "5" "1441531" "1441531" "subst" "0" "02325" "SLC6A3_000038" "g.1441531C>T" "" "" "" "SLC6A3(NM_001044.5):c.361G>A (p.G121S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1441416C>T" "" "VUS" "" "0000298346" "0" "30" "5" "1432686" "1432686" "subst" "0.0046414" "02325" "SLC6A3_000035" "g.1432686G>A" "" "" "" "SLC6A3(NM_001044.4):c.546C>T (p.N182=), SLC6A3(NM_001044.5):c.546C>T (p.N182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1432571G>A" "" "likely benign" "" "0000298347" "0" "50" "5" "1432663" "1432663" "subst" "2.03034E-5" "02325" "SLC6A3_000034" "g.1432663G>A" "" "" "" "SLC6A3(NM_001044.5):c.569C>T (p.S190L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1432548G>A" "" "VUS" "" "0000298348" "0" "10" "5" "1432566" "1432566" "subst" "0.00223349" "02325" "SLC6A3_000033" "g.1432566G>A" "" "" "" "SLC6A3(NM_001044.5):c.653+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1432451G>A" "" "benign" "" "0000299553" "0" "30" "5" "1443199" "1443199" "subst" "0.0557392" "02329" "SLC6A3_000044" "g.1443199G>A" "" "" "" "SLC6A3(NM_001044.4):c.114C>T (p.N38=), SLC6A3(NM_001044.5):c.114C>T (p.N38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1443084G>A" "" "likely benign" "" "0000299554" "0" "30" "5" "1414797" "1414797" "subst" "4.08931E-6" "02329" "SLC6A3_000026" "g.1414797G>A" "" "" "" "SLC6A3(NM_001044.5):c.1156+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1414682G>A" "" "likely benign" "" "0000299555" "0" "10" "5" "1411412" "1411412" "subst" "0.230182" "02329" "SLC6A3_000024" "g.1411412T>C" "" "" "" "SLC6A3(NM_001044.4):c.1215A>G (p.S405=), SLC6A3(NM_001044.5):c.1215A>G (p.S405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1411297T>C" "" "benign" "" "0000299556" "0" "10" "5" "1409127" "1409127" "subst" "0.959149" "02329" "SLC6A3_000021" "g.1409127T>C" "" "" "" "SLC6A3(NM_001044.4):c.1498+14A>G, SLC6A3(NM_001044.5):c.1498+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1409012T>C" "" "benign" "" "0000299557" "0" "30" "5" "1443007" "1443007" "subst" "0.0221545" "02329" "SLC6A3_000039" "g.1443007G>C" "" "" "" "SLC6A3(NM_001044.5):c.286+20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1442892G>C" "" "likely benign" "" "0000299558" "0" "10" "5" "1432825" "1432825" "subst" "0.304643" "02329" "SLC6A3_000037" "g.1432825G>T" "" "" "" "SLC6A3(NM_001044.4):c.419-12C>A, SLC6A3(NM_001044.5):c.419-12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1432710G>T" "" "benign" "" "0000299559" "0" "30" "5" "1432686" "1432686" "subst" "0.0046414" "02329" "SLC6A3_000035" "g.1432686G>A" "" "" "" "SLC6A3(NM_001044.4):c.546C>T (p.N182=), SLC6A3(NM_001044.5):c.546C>T (p.N182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1432571G>A" "" "likely benign" "" "0000299560" "0" "30" "5" "1420801" "1420801" "subst" "0.0193234" "02329" "SLC6A3_000031" "g.1420801G>A" "" "" "" "SLC6A3(NM_001044.5):c.810C>T (p.A270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1420686G>A" "" "likely benign" "" "0000308487" "0" "10" "5" "1414927" "1414927" "subst" "0.00220787" "01943" "SLC6A3_000030" "g.1414927G>A" "" "" "" "SLC6A3(NM_001044.4):c.1035C>T (p.D345=), SLC6A3(NM_001044.5):c.1035C>T (p.D345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1414812G>A" "" "benign" "" "0000308488" "0" "30" "5" "1414825" "1414825" "subst" "0.00076145" "01943" "SLC6A3_000029" "g.1414825G>A" "" "" "" "SLC6A3(NM_001044.4):c.1137C>T (p.I379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1414710G>A" "" "likely benign" "" "0000308489" "0" "30" "5" "1414819" "1414819" "subst" "0.000325927" "01943" "SLC6A3_000028" "g.1414819G>A" "" "" "" "SLC6A3(NM_001044.4):c.1143C>T (p.D381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1414704G>A" "" "likely benign" "" "0000308490" "0" "10" "5" "1443199" "1443199" "subst" "0.0557392" "01943" "SLC6A3_000044" "g.1443199G>A" "" "" "" "SLC6A3(NM_001044.4):c.114C>T (p.N38=), SLC6A3(NM_001044.5):c.114C>T (p.N38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1443084G>A" "" "benign" "" "0000308491" "0" "10" "5" "1411412" "1411412" "subst" "0.230182" "01943" "SLC6A3_000024" "g.1411412T>C" "" "" "" "SLC6A3(NM_001044.4):c.1215A>G (p.S405=), SLC6A3(NM_001044.5):c.1215A>G (p.S405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1411297T>C" "" "benign" "" "0000308492" "0" "50" "5" "1443171" "1443179" "del" "0" "01943" "SLC6A3_000043" "g.1443171_1443179del" "" "" "" "SLC6A3(NM_001044.4):c.137_145delCCCTCACCA (p.T46_T48del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1443056_1443064del" "" "VUS" "" "0000308493" "0" "50" "5" "1409232" "1409232" "subst" "0" "01943" "SLC6A3_000022" "g.1409232G>C" "" "" "" "SLC6A3(NM_001044.4):c.1407C>G (p.I469M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1409117G>C" "" "VUS" "" "0000308494" "0" "10" "5" "1409127" "1409127" "subst" "0.959149" "01943" "SLC6A3_000021" "g.1409127T>C" "" "" "" "SLC6A3(NM_001044.4):c.1498+14A>G, SLC6A3(NM_001044.5):c.1498+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1409012T>C" "" "benign" "" "0000308495" "0" "10" "5" "1443163" "1443163" "subst" "0.0106054" "01943" "SLC6A3_000042" "g.1443163C>A" "" "" "" "SLC6A3(NM_001044.4):c.150G>T (p.P50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1443048C>A" "" "benign" "" "0000308496" "0" "10" "5" "1443151" "1443151" "subst" "0.00700707" "01943" "SLC6A3_000041" "g.1443151G>A" "" "" "" "SLC6A3(NM_001044.4):c.162C>T (p.P54=), SLC6A3(NM_001044.5):c.162C>T (p.P54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1443036G>A" "" "benign" "" "0000308497" "0" "50" "5" "1403128" "1403128" "subst" "0.000540826" "01943" "SLC6A3_000014" "g.1403128G>A" "" "" "" "SLC6A3(NM_001044.4):c.1676C>T (p.A559V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1403013G>A" "" "VUS" "" "0000308498" "0" "10" "5" "1403073" "1403073" "subst" "0.0120953" "01943" "SLC6A3_000019" "g.1403073G>A" "" "" "" "SLC6A3(NM_001044.4):c.1731C>T (p.A577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1402958G>A" "" "benign" "" "0000308499" "0" "30" "5" "1403041" "1403041" "subst" "0.00010988" "01943" "SLC6A3_000018" "g.1403041C>T" "" "" "" "SLC6A3(NM_001044.4):c.1763G>A (p.R588Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1402926C>T" "" "likely benign" "" "0000308500" "0" "30" "5" "1394877" "1394877" "subst" "4.46682E-5" "01943" "SLC6A3_000016" "g.1394877G>T" "" "" "" "SLC6A3(NM_001044.4):c.1840-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1394762G>T" "" "likely benign" "" "0000308501" "0" "50" "5" "1394856" "1394856" "subst" "0.000231455" "01943" "SLC6A3_000015" "g.1394856C>G" "" "" "" "SLC6A3(NM_001044.4):c.1857G>C (p.K619N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1394741C>G" "" "VUS" "" "0000308502" "0" "30" "5" "1443097" "1443097" "subst" "1.6259E-5" "01943" "SLC6A3_000040" "g.1443097G>A" "" "" "" "SLC6A3(NM_001044.4):c.216C>T (p.S72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1442982G>A" "" "likely benign" "" "0000308503" "0" "10" "5" "1432825" "1432825" "subst" "0.304643" "01943" "SLC6A3_000037" "g.1432825G>T" "" "" "" "SLC6A3(NM_001044.4):c.419-12C>A, SLC6A3(NM_001044.5):c.419-12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1432710G>T" "" "benign" "" "0000308504" "0" "30" "5" "1432733" "1432733" "subst" "0.000751239" "01943" "SLC6A3_000036" "g.1432733G>A" "" "" "" "SLC6A3(NM_001044.4):c.499C>T (p.L167F, p.(Leu167Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1432618G>A" "" "likely benign" "" "0000308505" "0" "30" "5" "1432686" "1432686" "subst" "0.0046414" "01943" "SLC6A3_000035" "g.1432686G>A" "" "" "" "SLC6A3(NM_001044.4):c.546C>T (p.N182=), SLC6A3(NM_001044.5):c.546C>T (p.N182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1432571G>A" "" "likely benign" "" "0000308506" "0" "50" "5" "1422009" "1422009" "subst" "8.1491E-6" "01943" "SLC6A3_000032" "g.1422009G>A" "" "" "" "SLC6A3(NM_001044.4):c.774C>T (p.G258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1421894G>A" "" "VUS" "" "0000524603" "0" "30" "5" "1409836" "1409836" "subst" "0.00166625" "01943" "SLC6A3_000023" "g.1409836G>A" "" "" "" "SLC6A3(NM_001044.4):c.1398C>T (p.N466=), SLC6A3(NM_001044.5):c.1398C>T (p.N466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1409721G>A" "" "likely benign" "" "0000524611" "0" "30" "5" "1414873" "1414873" "subst" "0.000174866" "01943" "SLC6A3_000045" "g.1414873G>A" "" "" "" "SLC6A3(NM_001044.4):c.1089C>T (p.V363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1414758G>A" "" "likely benign" "" "0000524619" "0" "30" "5" "1432618" "1432618" "subst" "8.1217E-6" "01943" "SLC6A3_000046" "g.1432618T>C" "" "" "" "SLC6A3(NM_001044.4):c.614A>G (p.N205S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1432503T>C" "" "likely benign" "" "0000524636" "0" "30" "5" "1443151" "1443151" "subst" "0.00700707" "02329" "SLC6A3_000041" "g.1443151G>A" "" "" "" "SLC6A3(NM_001044.4):c.162C>T (p.P54=), SLC6A3(NM_001044.5):c.162C>T (p.P54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1443036G>A" "" "likely benign" "" "0000524637" "0" "50" "5" "1443236" "1443236" "subst" "0.000170622" "01943" "SLC6A3_000047" "g.1443236G>A" "" "" "" "SLC6A3(NM_001044.4):c.77C>T (p.P26L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1443121G>A" "" "VUS" "" "0000524638" "0" "50" "5" "1443254" "1443254" "subst" "2.8434E-5" "01943" "SLC6A3_000048" "g.1443254T>A" "" "" "" "SLC6A3(NM_001044.4):c.59A>T (p.E20V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1443139T>A" "" "VUS" "" "0000524639" "0" "50" "5" "1443255" "1443255" "subst" "2.84356E-5" "01943" "SLC6A3_000049" "g.1443255C>A" "" "" "" "SLC6A3(NM_001044.4):c.58G>T (p.E20*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1443140C>A" "" "VUS" "" "0000597533" "3" "70" "5" "1414812" "1414823" "del" "0" "03388" "SLC6A3_000050" "g.1414812_1414823del" "" "{PMID:Heidari 2020:32077500}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1414697_1414708del" "" "pathogenic (recessive)" "" "0000609543" "0" "30" "5" "1420711" "1420711" "subst" "1.2188E-5" "01943" "SLC6A3_000051" "g.1420711A>G" "" "" "" "SLC6A3(NM_001044.4):c.900T>C (p.V300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1420596A>G" "" "likely benign" "" "0000655312" "0" "30" "5" "1432776" "1432776" "subst" "0.000101553" "01943" "SLC6A3_000052" "g.1432776G>A" "" "" "" "SLC6A3(NM_001044.4):c.456C>T (p.V152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1432661G>A" "" "likely benign" "" "0000720230" "0" "30" "5" "1411346" "1411346" "subst" "0.000390504" "02329" "SLC6A3_000053" "g.1411346C>T" "" "" "" "SLC6A3(NM_001044.5):c.1269+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720231" "0" "30" "5" "1414894" "1414894" "subst" "3.66005E-5" "01943" "SLC6A3_000054" "g.1414894C>T" "" "" "" "SLC6A3(NM_001044.4):c.1068G>A (p.T356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720232" "0" "30" "5" "1416254" "1416254" "subst" "2.43839E-5" "01943" "SLC6A3_000055" "g.1416254G>A" "" "" "" "SLC6A3(NM_001044.4):c.990C>T (p.I330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801932" "0" "30" "5" "1414924" "1414924" "subst" "8.94549E-5" "01943" "SLC6A3_000056" "g.1414924C>T" "" "" "" "SLC6A3(NM_001044.4):c.1038G>A (p.A346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801933" "0" "50" "5" "1422073" "1422073" "subst" "0.000264755" "01943" "SLC6A3_000057" "g.1422073C>T" "" "" "" "SLC6A3(NM_001044.4):c.710G>A (p.R237Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000847513" "3" "70" "5" "1411357" "1411357" "subst" "0" "00000" "SLC6A3_000058" "g.1411357C>A" "population-specific allele frequency: 0.0% (0/402)" "{PMID:Puffenberger 2012:22279524}" "" "SLC6A3 IVS9+1G>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.1411242C>A" "" "likely pathogenic" "" "0000850801" "0" "30" "5" "1394869" "1394869" "subst" "0.000125887" "01943" "SLC6A3_000059" "g.1394869C>T" "" "" "" "SLC6A3(NM_001044.4):c.1844G>A (p.R615H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850811" "0" "50" "5" "1420788" "1420788" "subst" "1.62611E-5" "01943" "SLC6A3_000061" "g.1420788C>T" "" "" "" "SLC6A3(NM_001044.4):c.823G>A (p.V275M), SLC6A3(NM_001044.5):c.823G>A (p.(Val275Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859788" "0" "30" "5" "1409226" "1409226" "subst" "0.00125844" "02326" "SLC6A3_000060" "g.1409226G>C" "" "" "" "SLC6A3(NM_001044.5):c.1413C>G (p.V471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859794" "0" "30" "5" "1432733" "1432733" "subst" "0.000751239" "01804" "SLC6A3_000036" "g.1432733G>A" "" "" "" "SLC6A3(NM_001044.4):c.499C>T (p.L167F, p.(Leu167Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859796" "0" "30" "5" "1443274" "1443274" "subst" "4.87523E-5" "01943" "SLC6A3_000062" "g.1443274G>A" "" "" "" "SLC6A3(NM_001044.4):c.39C>T (p.S13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929026" "0" "10" "5" "1411412" "1411412" "subst" "0.230182" "02327" "SLC6A3_000024" "g.1411412T>C" "" "" "" "SLC6A3(NM_001044.4):c.1215A>G (p.S405=), SLC6A3(NM_001044.5):c.1215A>G (p.S405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929031" "0" "10" "5" "1443199" "1443199" "subst" "0.0557392" "02327" "SLC6A3_000044" "g.1443199G>A" "" "" "" "SLC6A3(NM_001044.4):c.114C>T (p.N38=), SLC6A3(NM_001044.5):c.114C>T (p.N38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000976594" "0" "30" "5" "1394877" "1394881" "dup" "0" "02325" "SLC6A3_000063" "g.1394877_1394881dup" "" "" "" "SLC6A3(NM_001044.5):c.1840-7_1840-3dupTTTCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976606" "0" "30" "5" "1409133" "1409133" "subst" "2.46836E-5" "01804" "SLC6A3_000064" "g.1409133G>A" "" "" "" "SLC6A3(NM_001044.5):c.1498+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976609" "0" "50" "5" "1409835" "1409835" "subst" "0" "01804" "SLC6A3_000065" "g.1409835C>T" "" "" "" "SLC6A3(NM_001044.5):c.1398+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976617" "0" "50" "5" "1414895" "1414895" "subst" "2.03335E-5" "01804" "SLC6A3_000066" "g.1414895G>A" "" "" "" "SLC6A3(NM_001044.5):c.1067C>T (p.(Thr356Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976618" "0" "50" "5" "1414926" "1414926" "subst" "0.000146372" "01804" "SLC6A3_000067" "g.1414926C>T" "" "" "" "SLC6A3(NM_001044.5):c.1036G>A (p.(Ala346Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976622" "0" "50" "5" "1420788" "1420788" "subst" "1.62611E-5" "01804" "SLC6A3_000061" "g.1420788C>T" "" "" "" "SLC6A3(NM_001044.4):c.823G>A (p.V275M), SLC6A3(NM_001044.5):c.823G>A (p.(Val275Met))" "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 SLC6A3 ## Count = 83 "{{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}}" "0000193899" "00019036" "99" "399" "0" "399" "0" "c.399del" "r.(?)" "p.(Ile134Serfs*5)" "3" "0000193900" "00019036" "99" "472" "0" "472" "0" "c.472G>T" "r.(?)" "p.(Val158Phe)" "4" "0000193901" "00019036" "99" "671" "0" "671" "0" "c.671T>C" "r.(?)" "p.(Leu224Pro)" "5" "0000193902" "00019036" "99" "979" "0" "979" "0" "c.979G>A" "r.(?)" "p.(Gly327Arg)" "7" "0000193903" "00019036" "99" "1031" "1" "1031" "1" "c.1031+1G>A" "r.spl" "p.?" "7i" "0000193904" "00019036" "99" "1103" "0" "1103" "0" "c.1103T>A" "r.(?)" "p.(Leu368Gln)" "8" "0000193905" "00019036" "99" "1156" "5" "1156" "5" "c.1156+5del" "r.spl" "p.?" "8i" "0000193906" "00019036" "99" "1184" "0" "1184" "0" "c.1184C>T" "r.(?)" "p.(Pro395Leu)" "9" "0000193907" "00019036" "99" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Gln439*)" "10" "0000193908" "00019036" "99" "1502" "0" "1767" "3" "c.1502_1767+3del" "r.spl?" "p.(Gly500Glufs*13)" "11i" "0000193909" "00019036" "99" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Trp)" "12" "0000193910" "00019036" "99" "1586" "0" "1586" "0" "c.1586C>T" "r.(?)" "p.(Pro529Leu)" "12" "0000193911" "00019036" "99" "1661" "0" "1661" "0" "c.1661C>T" "r.(?)" "p.(Pro554Leu)" "13" "0000193912" "00019036" "55" "1676" "0" "1676" "0" "c.1676C>T" "r.(?)" "p.(Ala559Val)" "13" "0000298337" "00019036" "10" "1035" "0" "1035" "0" "c.1035C>T" "r.(?)" "p.(Asp345=)" "" "0000298338" "00019036" "30" "1155" "0" "1155" "0" "c.1155C>T" "r.(?)" "p.(Asp385=)" "" "0000298339" "00019036" "30" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.(Ile398=)" "" "0000298340" "00019036" "30" "1398" "0" "1398" "0" "c.1398C>T" "r.(?)" "p.(Asn466=)" "" "0000298341" "00019036" "10" "1498" "14" "1498" "14" "c.1498+14A>G" "r.(=)" "p.(=)" "" "0000298342" "00019036" "30" "1600" "-8" "1600" "-8" "c.1600-8G>T" "r.(=)" "p.(=)" "" "0000298343" "00019036" "30" "162" "0" "162" "0" "c.162C>T" "r.(?)" "p.(Pro54=)" "" "0000298344" "00019036" "30" "1767" "13" "1767" "13" "c.1767+13A>G" "r.(=)" "p.(=)" "" "0000298345" "00019036" "50" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Gly121Ser)" "" "0000298346" "00019036" "30" "546" "0" "546" "0" "c.546C>T" "r.(?)" "p.(Asn182=)" "" "0000298347" "00019036" "50" "569" "0" "569" "0" "c.569C>T" "r.(?)" "p.(Ser190Leu)" "" "0000298348" "00019036" "10" "653" "13" "653" "13" "c.653+13C>T" "r.(=)" "p.(=)" "" "0000299553" "00019036" "30" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(Asn38=)" "" "0000299554" "00019036" "30" "1156" "9" "1156" "9" "c.1156+9C>T" "r.(=)" "p.(=)" "" "0000299555" "00019036" "10" "1215" "0" "1215" "0" "c.1215A>G" "r.(?)" "p.(Ser405=)" "" "0000299556" "00019036" "10" "1498" "14" "1498" "14" "c.1498+14A>G" "r.(=)" "p.(=)" "" "0000299557" "00019036" "30" "286" "20" "286" "20" "c.286+20C>G" "r.(=)" "p.(=)" "" "0000299558" "00019036" "10" "419" "-12" "419" "-12" "c.419-12C>A" "r.(=)" "p.(=)" "" "0000299559" "00019036" "30" "546" "0" "546" "0" "c.546C>T" "r.(?)" "p.(Asn182=)" "" "0000299560" "00019036" "30" "810" "0" "810" "0" "c.810C>T" "r.(?)" "p.(Ala270=)" "" "0000308487" "00019036" "10" "1035" "0" "1035" "0" "c.1035C>T" "r.(?)" "p.(Asp345=)" "" "0000308488" "00019036" "30" "1137" "0" "1137" "0" "c.1137C>T" "r.(?)" "p.(Ile379=)" "" "0000308489" "00019036" "30" "1143" "0" "1143" "0" "c.1143C>T" "r.(?)" "p.(Asp381=)" "" "0000308490" "00019036" "10" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(Asn38=)" "" "0000308491" "00019036" "10" "1215" "0" "1215" "0" "c.1215A>G" "r.(?)" "p.(Ser405=)" "" "0000308492" "00019036" "50" "137" "0" "145" "0" "c.137_145del" "r.(?)" "p.(Thr46_Thr48del)" "" "0000308493" "00019036" "50" "1407" "0" "1407" "0" "c.1407C>G" "r.(?)" "p.(Ile469Met)" "" "0000308494" "00019036" "10" "1498" "14" "1498" "14" "c.1498+14A>G" "r.(=)" "p.(=)" "" "0000308495" "00019036" "10" "150" "0" "150" "0" "c.150G>T" "r.(?)" "p.(Pro50=)" "" "0000308496" "00019036" "10" "162" "0" "162" "0" "c.162C>T" "r.(?)" "p.(Pro54=)" "" "0000308497" "00019036" "50" "1676" "0" "1676" "0" "c.1676C>T" "r.(?)" "p.(Ala559Val)" "" "0000308498" "00019036" "10" "1731" "0" "1731" "0" "c.1731C>T" "r.(?)" "p.(Ala577=)" "" "0000308499" "00019036" "30" "1763" "0" "1763" "0" "c.1763G>A" "r.(?)" "p.(Arg588Gln)" "" "0000308500" "00019036" "30" "1840" "-4" "1840" "-4" "c.1840-4C>A" "r.spl?" "p.?" "" "0000308501" "00019036" "50" "1857" "0" "1857" "0" "c.1857G>C" "r.(?)" "p.(Lys619Asn)" "" "0000308502" "00019036" "30" "216" "0" "216" "0" "c.216C>T" "r.(?)" "p.(Ser72=)" "" "0000308503" "00019036" "10" "419" "-12" "419" "-12" "c.419-12C>A" "r.(=)" "p.(=)" "" "0000308504" "00019036" "30" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(Leu167Phe)" "" "0000308505" "00019036" "30" "546" "0" "546" "0" "c.546C>T" "r.(?)" "p.(Asn182=)" "" "0000308506" "00019036" "50" "774" "0" "774" "0" "c.774C>T" "r.(?)" "p.(Gly258=)" "" "0000524603" "00019036" "30" "1398" "0" "1398" "0" "c.1398C>T" "r.(?)" "p.(Asn466=)" "" "0000524611" "00019036" "30" "1089" "0" "1089" "0" "c.1089C>T" "r.(?)" "p.(Val363=)" "" "0000524619" "00019036" "30" "614" "0" "614" "0" "c.614A>G" "r.(?)" "p.(Asn205Ser)" "" "0000524636" "00019036" "30" "162" "0" "162" "0" "c.162C>T" "r.(?)" "p.(Pro54=)" "" "0000524637" "00019036" "50" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Pro26Leu)" "" "0000524638" "00019036" "50" "59" "0" "59" "0" "c.59A>T" "r.(?)" "p.(Glu20Val)" "" "0000524639" "00019036" "50" "58" "0" "58" "0" "c.58G>T" "r.(?)" "p.(Glu20Ter)" "" "0000597533" "00019036" "70" "1139" "0" "1150" "0" "c.1139_1150del" "r.(?)" "p.(Gly380_Lys384delinsGlu)" "8" "0000609543" "00019036" "30" "900" "0" "900" "0" "c.900T>C" "r.(?)" "p.(Val300=)" "" "0000655312" "00019036" "30" "456" "0" "456" "0" "c.456C>T" "r.(?)" "p.(Val152=)" "" "0000720230" "00019036" "30" "1269" "12" "1269" "12" "c.1269+12G>A" "r.(=)" "p.(=)" "" "0000720231" "00019036" "30" "1068" "0" "1068" "0" "c.1068G>A" "r.(?)" "p.(Thr356=)" "" "0000720232" "00019036" "30" "990" "0" "990" "0" "c.990C>T" "r.(?)" "p.(Ile330=)" "" "0000801932" "00019036" "30" "1038" "0" "1038" "0" "c.1038G>A" "r.(?)" "p.(Ala346=)" "" "0000801933" "00019036" "50" "710" "0" "710" "0" "c.710G>A" "r.(?)" "p.(Arg237Gln)" "" "0000847513" "00019036" "70" "1269" "1" "1269" "1" "c.1269+1G>T" "r.spl" "p.?" "" "0000850801" "00019036" "30" "1844" "0" "1844" "0" "c.1844G>A" "r.(?)" "p.(Arg615His)" "" "0000850811" "00019036" "50" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Val275Met)" "" "0000859788" "00019036" "30" "1413" "0" "1413" "0" "c.1413C>G" "r.(?)" "p.(Val471=)" "" "0000859794" "00019036" "30" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(Leu167Phe)" "" "0000859796" "00019036" "30" "39" "0" "39" "0" "c.39C>T" "r.(?)" "p.(Ser13=)" "" "0000929026" "00019036" "10" "1215" "0" "1215" "0" "c.1215A>G" "r.(?)" "p.(Ser405=)" "" "0000929031" "00019036" "10" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(Asn38=)" "" "0000976594" "00019036" "30" "1840" "-7" "1840" "-3" "c.1840-7_1840-3dup" "r.spl?" "p.?" "" "0000976606" "00019036" "30" "1498" "8" "1498" "8" "c.1498+8C>T" "r.(=)" "p.(=)" "" "0000976609" "00019036" "50" "1398" "1" "1398" "1" "c.1398+1G>A" "r.spl?" "p.?" "" "0000976617" "00019036" "50" "1067" "0" "1067" "0" "c.1067C>T" "r.(?)" "p.(Thr356Met)" "" "0000976618" "00019036" "50" "1036" "0" "1036" "0" "c.1036G>A" "r.(?)" "p.(Ala346Thr)" "" "0000976622" "00019036" "50" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Val275Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000117937" "0000193899" "0000117938" "0000193900" "0000117938" "0000193911" "0000117939" "0000193901" "0000117940" "0000193902" "0000117940" "0000193907" "0000117940" "0000193910" "0000117941" "0000193903" "0000117942" "0000193904" "0000117943" "0000193905" "0000117944" "0000193906" "0000117945" "0000193908" "0000117946" "0000193909" "0000117947" "0000193912" "0000266720" "0000597533" "0000410237" "0000847513"