### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC6A1) # 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}}" "SLC6A1" "solute carrier family 6 (neurotransmitter transporter, GABA), member 1" "3" "p25.3" "unknown" "NG_053003.1" "UD_132438579905" "" "https://www.LOVD.nl/SLC6A1" "" "1" "11042" "6529" "137165" "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/SLC6A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2020-10-21 14:51:29" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001327" "SLC6A1" "solute carrier family 6 (neurotransmitter transporter, GABA), member 1" "001" "NM_003042.3" "" "NP_003033.3" "" "" "" "-411" "4083" "1800" "11034420" "11080935" "00000" "2012-09-13 13:26:46" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "04665" "MAE" "epilepsy, myoclonic-atonic (MAE)" "AD" "616421" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05315" "epilepsy, Rolandic" "epilepsy, Rolandic" "" "" "" "" "" "00006" "2017-08-11 13:02:50" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC6A1" "04665" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00116823" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_139:0/1:CONTROL" "00116971" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_479:0/1:CONTROL" "00117110" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_747:0/1:TYPICAL_RE" "00295536" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00296408" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00401646" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "244P" "00408080" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "188413" "00431864" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "214297" "00435117" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "257545" "00438326" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat44" "00440366" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2064.1" "00440427" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED3384.1" "00447861" "" "" "" "1" "" "01164" "" "" "M" "?" "? (unknown)" "" "0" "" "" "" "283694" "00455821" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat61" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00116823" "00000" "00116971" "00000" "00117110" "05315" "00295536" "00198" "00296408" "00198" "00401646" "00139" "00408080" "04665" "00431864" "04665" "00435117" "04665" "00438326" "04270" "00440366" "00198" "00440427" "00198" "00447861" "04665" "00455821" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 01157, 04270, 04665, 05315 ## Count = 13 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000092367" "05315" "00117110" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000223101" "00198" "00295536" "01164" "Unknown" "" "Seizures (HP:0001250); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000223822" "00198" "00296408" "01807" "Unknown" "" "Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000300208" "04665" "00408080" "01164" "Familial, autosomal dominant" "" "Seizure, Seizure precipitated by febrile infection, EEG abnormality, Hyperhidrosis, Nausea and vomiting, Generalized non-motor (absence) seizure, Myoclonic seizure" "" "" "" "" "" "" "" "" "" "Epilepsy" "" "0000322432" "04665" "00431864" "01164" "Unknown" "06y" "Global developmental delay, Generalized non-motor (absence) seizure" "" "" "" "" "" "" "" "" "" "" "" "0000322433" "04665" "00431864" "01164" "Unknown" "06y" "Generalized non-motor (absence) seizure, Seizure, Generalized myoclonic-atonic seizure, Expressive language delay, Receptive language delay, EEG abnormality, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000325349" "04665" "00435117" "01164" "Isolated (sporadic)" "24y" "(+) Pectus excavatum,(+) Seizure,(+) Absent speech,(+) Scoliosis,(+) Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328230" "04270" "00438326" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0002121 absence seizures; HP:0001945 fever; HP:0000964 eczema" "3y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000330276" "00198" "00440366" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Myoclonic-atonic epilepsy (MIM #616421)" "" "" "0000330337" "00198" "00440427" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Myoclonic-atonic epilepsy (MIM #616421)" "" "" "0000337057" "04665" "00447861" "01164" "Isolated (sporadic)" "00y08m" "Neurodevelopmental delay, Intellectual disability, Autistic behavior" "" "" "" "" "" "" "" "" "" "" "" "0000344354" "00198" "00455821" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MAE" "neurogenetic diseases" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000117291" "00116823" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117439" "00116971" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117578" "00117110" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000296706" "00295536" "1" "01164" "01164" "2020-03-18 10:47:08" "" "" "SEQ-NG-S" "DNA" "" "" "0000297519" "00296408" "1" "01807" "01807" "2020-04-06 09:48:45" "" "" "SEQ" "DNA" "" "" "0000402889" "00401646" "1" "02494" "02494" "2022-02-01 11:33:42" "" "" "SEQ-NG" "DNA" "" "WES" "0000409335" "00408080" "1" "01164" "01164" "2022-04-13 15:10:58" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000433302" "00431864" "1" "01164" "01164" "2023-02-17 10:39:21" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000436589" "00435117" "1" "01164" "01164" "2023-05-15 12:35:34" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000439808" "00438326" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441851" "00440366" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441912" "00440427" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449432" "00447861" "1" "01164" "01164" "2024-01-29 15:58:48" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000457437" "00455821" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000409335" "SLC6A1" "0000433302" "SLC6A1" "0000436589" "SLC6A1" "0000449432" "SLC6A1" ## 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 = 85 "{{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}}" "0000002321" "3" "50" "3" "11071926" "11071927" "del" "0" "00037" "SLC6A1_000001" "g.11071926_11071927del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.11030240_11030241del" "" "VUS" "" "0000188136" "0" "50" "3" "11067157" "11067157" "subst" "4.0709E-6" "02192" "SLC6A1_000002" "g.11067157A>G" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.11025471A>G" "" "VUS" "" "0000188284" "0" "50" "3" "11075321" "11075321" "del" "0" "02192" "SLC6A1_000004" "g.11075321del" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.11033635del" "" "VUS" "" "0000188423" "0" "50" "3" "11067250" "11067250" "subst" "4.06521E-5" "02192" "SLC6A1_000003" "g.11067250G>A" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.11025564G>A" "" "VUS" "" "0000299550" "0" "90" "3" "11064153" "11064154" "del" "0" "02329" "SLC6A1_000008" "g.11064153_11064154del" "" "" "" "SLC6A1(NM_003042.4):c.713_714delAG (p.K238Sfs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11022467_11022468del" "" "pathogenic" "" "0000302277" "0" "90" "3" "11067498" "11067498" "subst" "0" "02326" "SLC6A1_000009" "g.11067498G>A" "" "" "" "SLC6A1(NM_003042.4):c.889G>A (p.G297R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11025812G>A" "" "pathogenic" "" "0000308479" "0" "90" "3" "11059626" "11059626" "del" "0" "01943" "SLC6A1_000007" "g.11059626del" "" "" "" "SLC6A1(NM_003042.3):c.336delG (p.L113*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11017940del" "" "pathogenic" "" "0000308480" "0" "30" "3" "11058903" "11058903" "subst" "0.000773635" "01943" "SLC6A1_000005" "g.11058903G>A" "" "" "" "SLC6A1(NM_003042.3):c.6G>A (p.A2=), SLC6A1(NM_003042.4):c.6G>A (p.A2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11017217G>A" "" "likely benign" "" "0000338963" "0" "50" "3" "11075425" "11075425" "subst" "0.000183216" "02327" "SLC6A1_000016" "g.11075425G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11033739G>A" "" "VUS" "" "0000341394" "0" "90" "3" "11068037" "11068037" "subst" "0" "02327" "SLC6A1_000015" "g.11068037C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11026351C>T" "" "pathogenic" "" "0000342923" "0" "90" "3" "11059028" "11059028" "subst" "0" "02327" "SLC6A1_000011" "g.11059028G>A" "" "" "" "SLC6A1(NM_003042.4):c.131G>A (p.R44Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11017342G>A" "" "pathogenic" "" "0000342924" "0" "70" "3" "11059027" "11059027" "subst" "0" "02327" "SLC6A1_000010" "g.11059027C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11017341C>T" "" "likely pathogenic" "" "0000347084" "0" "90" "3" "11067502" "11067502" "subst" "0" "02327" "SLC6A1_000013" "g.11067502T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11025816T>C" "" "pathogenic" "" "0000350497" "0" "90" "3" "11067991" "11067991" "subst" "4.06164E-6" "02327" "SLC6A1_000014" "g.11067991G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11026305G>A" "" "pathogenic" "" "0000350837" "0" "70" "3" "11064071" "11064071" "subst" "4.11374E-6" "02327" "SLC6A1_000012" "g.11064071C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11022385C>T" "" "likely pathogenic" "" "0000517386" "0" "70" "3" "11059102" "11059102" "subst" "0" "01804" "SLC6A1_000017" "g.11059102A>G" "" "" "" "SLC6A1(NM_003042.3):c.205A>G (p.(Arg69Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11017416A>G" "" "likely pathogenic" "" "0000517387" "0" "90" "3" "11059573" "11059573" "dup" "0" "01943" "SLC6A1_000018" "g.11059573dup" "" "" "" "SLC6A1(NM_003042.3):c.283dupG (p.V95Gfs*112)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11017887dup" "" "pathogenic" "" "0000517388" "0" "70" "3" "11060369" "11060369" "subst" "0" "02327" "SLC6A1_000019" "g.11060369C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11018683C>A" "" "likely pathogenic" "" "0000517389" "0" "30" "3" "11064022" "11064022" "subst" "1.62892E-5" "02326" "SLC6A1_000020" "g.11064022G>A" "" "" "" "SLC6A1(NM_003042.3):c.582G>A (p.E194=, p.(Glu194Glu)), SLC6A1(NM_003042.4):c.582G>A (p.E194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11022336G>A" "" "likely benign" "" "0000517390" "0" "30" "3" "11064091" "11064091" "subst" "0.00200797" "02326" "SLC6A1_000021" "g.11064091G>A" "" "" "" "SLC6A1(NM_003042.3):c.651G>A (p.T217=), SLC6A1(NM_003042.4):c.651G>A (p.T217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11022405G>A" "" "likely benign" "" "0000517391" "0" "70" "3" "11067472" "11067472" "subst" "0" "01943" "SLC6A1_000022" "g.11067472C>A" "" "" "" "SLC6A1(NM_003042.3):c.863C>A (p.A288E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11025786C>A" "" "likely pathogenic" "" "0000517392" "0" "90" "3" "11067498" "11067498" "subst" "0" "02327" "SLC6A1_000009" "g.11067498G>A" "" "" "" "SLC6A1(NM_003042.4):c.889G>A (p.G297R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11025812G>A" "" "pathogenic" "" "0000517393" "0" "30" "3" "11070415" "11070415" "subst" "4.06316E-6" "02325" "SLC6A1_000023" "g.11070415G>A" "" "" "" "SLC6A1(NM_003042.4):c.1079-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11028729G>A" "" "likely benign" "" "0000517394" "0" "90" "3" "11070426" "11070426" "subst" "0" "01804" "SLC6A1_000024" "g.11070426G>A" "" "" "" "SLC6A1(NM_003042.3):c.1084G>A (p.(Gly362Arg)), SLC6A1(NM_003042.4):c.1084G>A (p.G362R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11028740G>A" "" "pathogenic" "" "0000517395" "0" "70" "3" "11070426" "11070426" "subst" "0" "02329" "SLC6A1_000024" "g.11070426G>A" "" "" "" "SLC6A1(NM_003042.3):c.1084G>A (p.(Gly362Arg)), SLC6A1(NM_003042.4):c.1084G>A (p.G362R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11028740G>A" "" "likely pathogenic" "" "0000517397" "0" "50" "3" "11070906" "11070906" "subst" "0" "01804" "SLC6A1_000026" "g.11070906G>T" "" "" "" "SLC6A1(NM_003042.3):c.1192-1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11029220G>T" "" "VUS" "" "0000517398" "0" "30" "3" "11070958" "11070958" "subst" "0.00249363" "02326" "SLC6A1_000027" "g.11070958C>A" "" "" "" "SLC6A1(NM_003042.3):c.1243C>A (p.L415I), SLC6A1(NM_003042.4):c.1243C>A (p.L415I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11029272C>A" "" "likely benign" "" "0000517399" "0" "50" "3" "11076210" "11076210" "subst" "0" "02326" "SLC6A1_000028" "g.11076210T>A" "" "" "" "SLC6A1(NM_003042.4):c.1528-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11034524T>A" "" "VUS" "" "0000517401" "0" "30" "3" "11078534" "11078534" "subst" "0" "02327" "SLC6A1_000030" "g.11078534C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11036848C>G" "" "likely benign" "" "0000608204" "0" "90" "3" "11059063" "11059063" "subst" "0" "02327" "SLC6A1_000031" "g.11059063T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11017377T>C" "" "pathogenic" "" "0000608205" "0" "30" "3" "11067266" "11067266" "subst" "0.00060613" "02326" "SLC6A1_000032" "g.11067266C>T" "" "" "" "SLC6A1(NM_003042.3):c.846C>T (p.S282=), SLC6A1(NM_003042.4):c.846C>T (p.S282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11025580C>T" "" "likely benign" "" "0000608206" "0" "30" "3" "11067494" "11067494" "subst" "0.000450758" "02326" "SLC6A1_000033" "g.11067494A>T" "" "" "" "SLC6A1(NM_003042.4):c.885A>T (p.S295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11025808A>T" "" "likely benign" "" "0000608207" "0" "70" "3" "11078554" "11078554" "subst" "0" "02327" "SLC6A1_000034" "g.11078554C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11036868C>T" "" "likely pathogenic" "" "0000653402" "0" "70" "3" "11059604" "11059604" "subst" "0" "01164" "SLC6A1_000035" "g.11059604G>T" "" "" "" "" "ACMG: PM2,PM5,PP2,PP3" "Germline" "" "" "0" "" "" "g.11017918G>T" "" "likely pathogenic" "ACMG" "0000654756" "0" "90" "3" "11067458" "11067458" "subst" "0" "01943" "SLC6A1_000036" "g.11067458G>C" "" "" "" "SLC6A1(NM_003042.3):c.850-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11025772G>C" "" "pathogenic" "" "0000654757" "0" "90" "3" "11070534" "11070534" "subst" "0" "02327" "SLC6A1_000037" "g.11070534G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11028848G>T" "" "pathogenic" "" "0000654758" "0" "70" "3" "11075377" "11075377" "subst" "0" "02327" "SLC6A1_000038" "g.11075377C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11033691C>A" "" "likely pathogenic" "" "0000660122" "0" "90" "3" "11059045" "11059048" "delins" "0" "01807" "SLC6A1_000039" "g.11059045_11059048delinsTCGTGTC" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.11017359_11017362delinsTCGTGTC" "" "pathogenic" "" "0000676781" "0" "30" "3" "11067221" "11067221" "subst" "0.000564678" "01943" "SLC6A1_000040" "g.11067221C>T" "" "" "" "SLC6A1(NM_003042.3):c.801C>T (p.G267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676782" "0" "50" "3" "11067522" "11067522" "subst" "0" "01804" "SLC6A1_000041" "g.11067522G>T" "" "" "" "SLC6A1(NM_003042.3):c.913G>T (p.(Ala305Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688889" "0" "70" "3" "11067499" "11067499" "subst" "0" "02327" "SLC6A1_000042" "g.11067499G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000688890" "0" "30" "3" "11070551" "11070551" "subst" "0.000202509" "02326" "SLC6A1_000043" "g.11070551G>A" "" "" "" "SLC6A1(NM_003042.4):c.1191+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688891" "0" "30" "3" "11070958" "11070958" "subst" "0.00249363" "01943" "SLC6A1_000027" "g.11070958C>A" "" "" "" "SLC6A1(NM_003042.3):c.1243C>A (p.L415I), SLC6A1(NM_003042.4):c.1243C>A (p.L415I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688892" "0" "50" "3" "11072864" "11072864" "subst" "0" "01943" "SLC6A1_000044" "g.11072864G>T" "" "" "" "SLC6A1(NM_003042.3):c.1325G>T (p.G442V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719116" "0" "50" "3" "11058910" "11058910" "subst" "4.06987E-6" "01943" "SLC6A1_000045" "g.11058910G>C" "" "" "" "SLC6A1(NM_003042.3):c.13G>C (p.G5R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719117" "0" "70" "3" "11067563" "11067563" "subst" "0" "02327" "SLC6A1_000046" "g.11067563G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719118" "0" "30" "3" "11067966" "11067966" "subst" "0.000840739" "02326" "SLC6A1_000047" "g.11067966C>T" "" "" "" "SLC6A1(NM_003042.4):c.999C>T (p.F333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719119" "0" "70" "3" "11072916" "11072916" "subst" "0" "02327" "SLC6A1_000048" "g.11072916C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719120" "0" "90" "3" "11076284" "11076284" "subst" "0" "02329" "SLC6A1_000029" "g.11076284G>A" "" "" "" "SLC6A1(NM_003042.4):c.1595G>A (p.W532*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000797049" "0" "90" "3" "11076220" "11076220" "subst" "0" "03779" "SLC6A1_000049" "g.11076220G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1064794981" "0" "" "" "" "" "pathogenic" "" "0000800883" "0" "30" "3" "11064022" "11064022" "subst" "1.62892E-5" "01943" "SLC6A1_000020" "g.11064022G>A" "" "" "" "SLC6A1(NM_003042.3):c.582G>A (p.E194=, p.(Glu194Glu)), SLC6A1(NM_003042.4):c.582G>A (p.E194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800884" "0" "30" "3" "11064091" "11064091" "subst" "0.00200797" "01943" "SLC6A1_000021" "g.11064091G>A" "" "" "" "SLC6A1(NM_003042.3):c.651G>A (p.T217=), SLC6A1(NM_003042.4):c.651G>A (p.T217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800885" "0" "30" "3" "11067266" "11067266" "subst" "0.00060613" "01943" "SLC6A1_000032" "g.11067266C>T" "" "" "" "SLC6A1(NM_003042.3):c.846C>T (p.S282=), SLC6A1(NM_003042.4):c.846C>T (p.S282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800886" "0" "30" "3" "11067497" "11067497" "subst" "2.43661E-5" "01943" "SLC6A1_000050" "g.11067497C>T" "" "" "" "SLC6A1(NM_003042.3):c.888C>T (p.Y296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800887" "0" "30" "3" "11071032" "11071032" "subst" "8.16033E-6" "01943" "SLC6A1_000051" "g.11071032C>T" "" "" "" "SLC6A1(NM_003042.3):c.1317C>T (p.I439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000837168" "0" "70" "3" "11068037" "11068037" "subst" "0" "02494" "SLC6A1_000015" "g.11068037C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000846488" "0" "70" "3" "11059546" "11059546" "subst" "0" "01164" "SLC6A1_000052" "g.11059546T>C" "" "" "" "" "ACMG: PS2, PM2_SUP, PP2, PP3" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000850090" "0" "30" "3" "11058903" "11058903" "subst" "0.000773635" "02326" "SLC6A1_000005" "g.11058903G>A" "" "" "" "SLC6A1(NM_003042.3):c.6G>A (p.A2=), SLC6A1(NM_003042.4):c.6G>A (p.A2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858749" "0" "50" "3" "11067157" "11067157" "subst" "4.0709E-6" "02327" "SLC6A1_000002" "g.11067157A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858750" "0" "70" "3" "11067528" "11067528" "subst" "0" "02327" "SLC6A1_000053" "g.11067528G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000885472" "0" "90" "3" "11059120" "11059120" "subst" "0" "02327" "SLC6A1_000054" "g.11059120G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885473" "0" "30" "3" "11067455" "11067455" "subst" "4.46766E-5" "02325" "SLC6A1_000055" "g.11067455A>G" "" "" "" "SLC6A1(NM_003042.4):c.850-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885474" "0" "30" "3" "11067954" "11067954" "subst" "0.000125927" "02325" "SLC6A1_000056" "g.11067954C>T" "" "" "" "SLC6A1(NM_003042.4):c.987C>T (p.C329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885475" "0" "70" "3" "11070505" "11070505" "subst" "0" "02327" "SLC6A1_000057" "g.11070505T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000885476" "0" "30" "3" "11070965" "11070965" "subst" "9.86161E-5" "02325" "SLC6A1_000058" "g.11070965G>A" "" "" "" "SLC6A1(NM_003042.4):c.1250G>A (p.(Arg417His), p.R417H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000918946" "0" "70" "3" "11067464" "11067464" "subst" "0" "01164" "SLC6A1_000059" "g.11067464G>A" "" "" "" "" "ACMG: PVS1, PM2_SUP, PS4_SUP" "Germline" "?" "" "" "" "" "" "VCV001439096.2" "likely pathogenic (dominant)" "ACMG" "0000927621" "0" "70" "3" "11067219" "11067219" "subst" "0" "01164" "SLC6A1_000060" "g.11067219G>C" "" "" "" "" "ACMG: PS2_MOD, PP3_MOD, PM2_SUP, PP2; confirmed de novo in trio exome" "De novo" "-" "" "0" "" "" "g.11025533G>C" "" "likely pathogenic (dominant)" "ACMG" "0000928674" "0" "70" "3" "11059547" "11059547" "subst" "0" "02329" "SLC6A1_000061" "g.11059547A>G" "" "" "" "SLC6A1(NM_003042.4):c.257A>G (p.Y86C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000935937" "0" "90" "3" "11060331" "11060333" "del" "0" "00006" "SLC6A1_000062" "g.11060331_11060333del" "" "{PMID:Chuan 2022:35571021}" "" "NM_001348250.2:c.418_420del" "ACMG PVS1,PM2,PM4" "Germline/De novo (untested)" "" "" "0" "" "" "g.11018645_11018647del" "" "pathogenic (dominant)" "ACMG" "0000939793" "0" "70" "3" "11076216" "11076216" "subst" "0" "00006" "SLC6A1_000064" "g.11076216G>C" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.11034530G>C" "" "likely pathogenic (dominant)" "" "0000939854" "1" "70" "3" "11067221" "11067221" "del" "0" "00006" "SLC6A1_000063" "g.11067221del" "" "{PMID:Nambot 2018:29095811}" "" "801delC" "" "Germline" "" "" "0" "" "" "g.11025535del" "" "likely pathogenic (dominant)" "" "0000947985" "0" "90" "3" "11059028" "11059028" "subst" "0" "02325" "SLC6A1_000011" "g.11059028G>A" "" "" "" "SLC6A1(NM_003042.4):c.131G>A (p.R44Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000959637" "0" "70" "3" "11067472" "11067472" "subst" "0" "01164" "SLC6A1_000065" "g.11067472C>T" "" "PMID: 22495306, 24859339, 25865495, 29315614; Invitae, MGZ" "" "" "ACMG: PS2, PP3_STR, PS4_MOD, PM2_SUP, PM5_SUP, PP2" "De novo" "-" "" "" "" "" "g.11025786C>T" "VCV000192372.16" "pathogenic (dominant)" "ACMG" "0000975493" "0" "70" "3" "11067482" "11067482" "subst" "0" "01804" "SLC6A1_000066" "g.11067482G>C" "" "" "" "SLC6A1(NM_003042.4):c.873G>C (p.(Gln291His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000993129" "0" "30" "3" "11061942" "11061942" "subst" "2.03757E-5" "01804" "SLC6A1_000067" "g.11061942G>A" "" "" "" "SLC6A1(NM_003042.3):c.515G>A (p.(Arg172His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993130" "0" "30" "3" "11064022" "11064022" "subst" "1.62892E-5" "01804" "SLC6A1_000020" "g.11064022G>A" "" "" "" "SLC6A1(NM_003042.3):c.582G>A (p.E194=, p.(Glu194Glu)), SLC6A1(NM_003042.4):c.582G>A (p.E194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993131" "0" "50" "3" "11064080" "11064098" "del" "0" "02325" "SLC6A1_000068" "g.11064080_11064098del" "" "" "" "SLC6A1(NM_003042.4):c.640_658delCTGGCCATCACGCTGGCCA (p.L214Sfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993132" "0" "30" "3" "11067199" "11067199" "subst" "3.24979E-5" "01804" "SLC6A1_000069" "g.11067199C>T" "" "" "" "SLC6A1(NM_003042.3):c.779C>T (p.(Thr260Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993133" "0" "50" "3" "11067547" "11067547" "subst" "0" "01804" "SLC6A1_000070" "g.11067547A>G" "" "" "" "SLC6A1(NM_003042.3):c.938A>G (p.(His313Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993134" "0" "30" "3" "11070971" "11070971" "subst" "0" "01804" "SLC6A1_000071" "g.11070971G>A" "" "" "" "SLC6A1(NM_003042.3):c.1256G>A (p.(Arg419His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993135" "0" "50" "3" "11076382" "11076382" "subst" "0" "01804" "SLC6A1_000072" "g.11076382C>T" "" "" "" "SLC6A1(NM_003042.3):c.1693C>T (p.(Gln565*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011940" "0" "90" "3" "11061945" "11061945" "subst" "0" "00006" "SLC6A1_000073" "g.11061945G>C" "" "{PMID:Salinas 2020:33084218}" "" "NM_001348250:c.518G>C" "" "Unknown" "" "" "0" "" "" "g.11020259G>C" "RCV001004737.1" "pathogenic" "" "0001013795" "0" "70" "3" "11064130" "11064130" "subst" "0" "02327" "SLC6A1_000074" "g.11064130G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001022226" "0" "50" "3" "11072864" "11072864" "subst" "0" "04796" "SLC6A1_000044" "g.11072864G>T" "" "" "" "" "in vitro analysis 293T cells mini-gene exon trapping assay: no effect on RNA" "CLASSIFICATION record" "" "" "0" "" "" "g.11031178G>T" "" "VUS" "" "0001033564" "0" "30" "3" "11070965" "11070965" "subst" "9.86161E-5" "01804" "SLC6A1_000058" "g.11070965G>A" "" "" "" "SLC6A1(NM_003042.4):c.1250G>A (p.(Arg417His), p.R417H)" "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 SLC6A1 ## Count = 85 "{{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}}" "0000002321" "00001327" "50" "1323" "888" "1323" "889" "c.1323+888_1323+889del" "r.(=)" "p.(=)" "" "0000188136" "00001327" "00" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(Tyr246Cys)" "" "0000188284" "00001327" "00" "1427" "-4" "1427" "-4" "c.1427-4del" "r.spl?" "p.?" "" "0000188423" "00001327" "00" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" "0000299550" "00001327" "90" "713" "0" "714" "0" "c.713_714del" "r.(?)" "p.(Lys238SerfsTer43)" "" "0000302277" "00001327" "90" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Gly297Arg)" "" "0000308479" "00001327" "90" "336" "0" "336" "0" "c.336del" "r.(?)" "p.(Leu113Ter)" "" "0000308480" "00001327" "30" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(Ala2=)" "" "0000338963" "00001327" "50" "1527" "0" "1527" "0" "c.1527G>A" "r.(?)" "p.(Ala509=)" "" "0000341394" "00001327" "90" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Ala357Val)" "" "0000342923" "00001327" "90" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44Gln)" "" "0000342924" "00001327" "70" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44Trp)" "" "0000347084" "00001327" "90" "893" "0" "893" "0" "c.893T>C" "r.(?)" "p.(Leu298Pro)" "" "0000350497" "00001327" "90" "1024" "0" "1024" "0" "c.1024G>A" "r.(?)" "p.(Val342Met)" "" "0000350837" "00001327" "70" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Arg211Cys)" "" "0000517386" "00001327" "70" "205" "0" "205" "0" "c.205A>G" "r.(?)" "p.(Arg69Gly)" "" "0000517387" "00001327" "90" "283" "0" "283" "0" "c.283dup" "r.(?)" "p.(Val95GlyfsTer112)" "" "0000517388" "00001327" "70" "456" "0" "456" "0" "c.456C>A" "r.(?)" "p.(Tyr152Ter)" "" "0000517389" "00001327" "30" "582" "0" "582" "0" "c.582G>A" "r.(?)" "p.(Glu194=)" "" "0000517390" "00001327" "30" "651" "0" "651" "0" "c.651G>A" "r.(?)" "p.(Thr217=)" "" "0000517391" "00001327" "70" "863" "0" "863" "0" "c.863C>A" "r.(?)" "p.(Ala288Glu)" "" "0000517392" "00001327" "90" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Gly297Arg)" "" "0000517393" "00001327" "30" "1079" "-6" "1079" "-6" "c.1079-6G>A" "r.(=)" "p.(=)" "" "0000517394" "00001327" "90" "1084" "0" "1084" "0" "c.1084G>A" "r.(?)" "p.(Gly362Arg)" "" "0000517395" "00001327" "70" "1084" "0" "1084" "0" "c.1084G>A" "r.(?)" "p.(Gly362Arg)" "" "0000517397" "00001327" "50" "1192" "-1" "1192" "-1" "c.1192-1G>T" "r.spl?" "p.?" "" "0000517398" "00001327" "30" "1243" "0" "1243" "0" "c.1243C>A" "r.(?)" "p.(Leu415Ile)" "" "0000517399" "00001327" "50" "1528" "-7" "1528" "-7" "c.1528-7T>A" "r.(=)" "p.(=)" "" "0000517401" "00001327" "30" "1696" "-14" "1696" "-14" "c.1696-14C>G" "r.(=)" "p.(=)" "" "0000608204" "00001327" "90" "166" "0" "166" "0" "c.166T>C" "r.(?)" "p.(Ser56Pro)" "" "0000608205" "00001327" "30" "846" "0" "846" "0" "c.846C>T" "r.(?)" "p.(Ser282=)" "" "0000608206" "00001327" "30" "885" "0" "885" "0" "c.885A>T" "r.(?)" "p.(Ser295=)" "" "0000608207" "00001327" "70" "1702" "0" "1702" "0" "c.1702C>T" "r.(?)" "p.(Gln568Ter)" "" "0000653402" "00001327" "70" "314" "0" "314" "0" "c.314G>T" "r.(?)" "p.(Gly105Val)" "" "0000654756" "00001327" "90" "850" "-1" "850" "-1" "c.850-1G>C" "r.spl?" "p.?" "" "0000654757" "00001327" "90" "1191" "1" "1191" "1" "c.1191+1G>T" "r.spl?" "p.?" "" "0000654758" "00001327" "70" "1479" "0" "1479" "0" "c.1479C>A" "r.(?)" "p.(Cys493Ter)" "" "0000660122" "00001327" "90" "148" "0" "151" "0" "c.148_151delinsTCGTGTC" "r.(?)" "p.(Arg50_Phe51delinsSerCysLeu)" "" "0000676781" "00001327" "30" "801" "0" "801" "0" "c.801C>T" "r.(?)" "p.(Gly267=)" "" "0000676782" "00001327" "50" "913" "0" "913" "0" "c.913G>T" "r.(?)" "p.(Ala305Ser)" "" "0000688889" "00001327" "70" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Gly297Glu)" "" "0000688890" "00001327" "30" "1191" "18" "1191" "18" "c.1191+18G>A" "r.(=)" "p.(=)" "" "0000688891" "00001327" "30" "1243" "0" "1243" "0" "c.1243C>A" "r.(?)" "p.(Leu415Ile)" "" "0000688892" "00001327" "50" "1325" "0" "1325" "0" "c.1325G>T" "r.(?)" "p.(Gly442Val)" "" "0000719116" "00001327" "50" "13" "0" "13" "0" "c.13G>C" "r.(?)" "p.(Gly5Arg)" "" "0000719117" "00001327" "70" "953" "1" "953" "1" "c.953+1G>C" "r.spl?" "p.?" "" "0000719118" "00001327" "30" "999" "0" "999" "0" "c.999C>T" "r.(?)" "p.(Phe333=)" "" "0000719119" "00001327" "70" "1377" "0" "1377" "0" "c.1377C>G" "r.(?)" "p.(Ser459Arg)" "" "0000719120" "00001327" "90" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Trp532Ter)" "" "0000797049" "00001327" "90" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Val511Met)" "" "0000800883" "00001327" "30" "582" "0" "582" "0" "c.582G>A" "r.(?)" "p.(Glu194=)" "" "0000800884" "00001327" "30" "651" "0" "651" "0" "c.651G>A" "r.(?)" "p.(Thr217=)" "" "0000800885" "00001327" "30" "846" "0" "846" "0" "c.846C>T" "r.(?)" "p.(Ser282=)" "" "0000800886" "00001327" "30" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(Tyr296=)" "" "0000800887" "00001327" "30" "1317" "0" "1317" "0" "c.1317C>T" "r.(?)" "p.(Ile439=)" "" "0000837168" "00001327" "70" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Ala357Val)" "" "0000846488" "00001327" "70" "256" "0" "256" "0" "c.256T>C" "r.(?)" "p.(Tyr86His)" "" "0000850090" "00001327" "30" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(Ala2=)" "" "0000858749" "00001327" "50" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(Tyr246Cys)" "" "0000858750" "00001327" "70" "919" "0" "919" "0" "c.919G>A" "r.(?)" "p.(Gly307Arg)" "" "0000885472" "00001327" "90" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Gly75Arg)" "" "0000885473" "00001327" "30" "850" "-4" "850" "-4" "c.850-4A>G" "r.spl?" "p.?" "" "0000885474" "00001327" "30" "987" "0" "987" "0" "c.987C>T" "r.(?)" "p.(Cys329=)" "" "0000885475" "00001327" "70" "1163" "0" "1163" "0" "c.1163T>G" "r.(?)" "p.(Met388Arg)" "" "0000885476" "00001327" "30" "1250" "0" "1250" "0" "c.1250G>A" "r.(?)" "p.(Arg417His)" "" "0000918946" "00001327" "70" "855" "0" "855" "0" "c.855G>A" "r.(?)" "p.(Trp285*)" "" "0000927621" "00001327" "70" "799" "0" "799" "0" "c.799G>C" "r.(?)" "p.(Gly267Arg)" "" "0000928674" "00001327" "70" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.(Tyr86Cys)" "" "0000935937" "00001327" "90" "418" "0" "420" "0" "c.418_420del" "r.(?)" "p.(Tyr140del)" "" "0000939793" "00001327" "70" "1528" "-1" "1528" "-1" "c.1528-1G>C" "r.spl" "p.?" "" "0000939854" "00001327" "70" "801" "0" "801" "0" "c.801del" "r.(?)" "p.(Ile268SerfsTer36)" "8" "0000947985" "00001327" "90" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44Gln)" "" "0000959637" "00001327" "70" "863" "0" "863" "0" "c.863C>T" "r.(?)" "p.(Ala288Val)" "" "0000975493" "00001327" "70" "873" "0" "873" "0" "c.873G>C" "r.(?)" "p.(Gln291His)" "" "0000993129" "00001327" "30" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172His)" "" "0000993130" "00001327" "30" "582" "0" "582" "0" "c.582G>A" "r.(?)" "p.(Glu194=)" "" "0000993131" "00001327" "50" "640" "0" "658" "0" "c.640_658del" "r.(?)" "p.(Leu214Serfs*32)" "" "0000993132" "00001327" "30" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Thr260Met)" "" "0000993133" "00001327" "50" "938" "0" "938" "0" "c.938A>G" "r.(?)" "p.(His313Arg)" "" "0000993134" "00001327" "30" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Arg419His)" "" "0000993135" "00001327" "50" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Gln565*)" "" "0001011940" "00001327" "90" "518" "0" "518" "0" "c.518G>C" "r.(?)" "p.(Cys173Ser)" "" "0001013795" "00001327" "70" "690" "0" "690" "0" "c.690G>A" "r.(?)" "p.(Trp230*)" "" "0001022226" "00001327" "50" "1325" "0" "1325" "0" "c.1325G>T" "r.1325G>T" "p.Gly442Val" "13" "0001033564" "00001327" "30" "1250" "0" "1250" "0" "c.1250G>A" "r.(?)" "p.(Arg417His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002321" "0000117291" "0000188136" "0000117439" "0000188284" "0000117578" "0000188423" "0000296706" "0000653402" "0000297519" "0000660122" "0000402889" "0000837168" "0000409335" "0000846488" "0000433302" "0000918946" "0000436589" "0000927621" "0000439808" "0000935937" "0000441851" "0000939793" "0000441912" "0000939854" "0000449432" "0000959637" "0000457437" "0001011940"