### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ADA) # 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}}" "ADA" "adenosine deaminase" "20" "q13.12" "unknown" "NC_000020.10" "UD_132119056063" "" "https://www.LOVD.nl/ADA" "" "1" "186" "100" "608958" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/ADA_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2026-06-25 14:06:04" "00006" "2026-07-06 14:20:16" ## 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}}" "00000165" "ADA" "adenosine deaminase" "001" "NM_000022.2" "" "NP_000013.2" "" "" "" "-128" "1404" "1092" "43280376" "43248163" "00002" "2012-05-11 13:12:18" "" "" ## 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" "" "" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01163" "SCIDADA" "immunodeficiency, severe combined, due to ADA deficiency" "SMo;AR" "102700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05608" "SCID" "immunodeficiency, severe combined (SCID)" "" "" "" "" "" "00006" "2019-06-06 16:10:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ADA" "01163" ## Individuals ## Do not remove or alter this header ## ## Count = 58 "{{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}}" "00000008" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000011" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "M" "" "" "" "0" "" "" "" "NA04364" "00000012" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000016" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000030" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000031" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000035" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000050" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000056" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000061" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000063" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000068" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000084" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000085" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000107" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00150110" "" "" "" "1" "" "02359" "" "" "M" "yes" "Turkey" "00y06m" "0" "" "" "Turkısh" "" "00204477" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204478" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204479" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204480" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204481" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204482" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204483" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204484" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204485" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204486" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204487" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204488" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204489" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204490" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204491" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204492" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204493" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204494" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204495" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204496" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204497" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204498" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204499" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204500" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204501" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204502" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204503" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204504" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204505" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204506" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00292930" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292931" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292932" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292933" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00414704" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA01210" "00414705" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA01899" "00414706" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA03575" "00480080" "" "" "" "1" "" "04998" "" "" "" "" "Italy" "" "0" "" "" "" "patient" "00480081" "" "" "" "1" "" "04998" "" "" "" "" "Italy" "" "0" "" "" "" "patient" "00480082" "" "" "" "1" "" "04998" "" "" "" "" "Italy" "" "0" "" "" "" "patient" "00480637" "" "" "" "1" "" "00006" "{PMID:Kostoulas 2026:42212615}" "analysis 276 unrelated individuals (carrier screening)" "" "" "Greece" "" "0" "" "" "" "" "00480638" "" "" "" "1" "" "00006" "{PMID:Kostoulas 2026:42212615}" "analysis 276 unrelated individuals (carrier screening)" "" "" "Greece" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 49 "{{individualid}}" "{{diseaseid}}" "00000011" "00198" "00000012" "00138" "00000012" "05378" "00000016" "00138" "00000016" "05378" "00000030" "00000" "00150110" "01163" "00204477" "01163" "00204478" "01163" "00204479" "01163" "00204480" "01163" "00204481" "01163" "00204482" "01163" "00204483" "01163" "00204484" "01163" "00204485" "01163" "00204486" "01163" "00204487" "01163" "00204488" "01163" "00204489" "01163" "00204490" "01163" "00204491" "01163" "00204492" "01163" "00204493" "01163" "00204494" "01163" "00204495" "01163" "00204496" "01163" "00204497" "01163" "00204498" "01163" "00204499" "01163" "00204500" "01163" "00204501" "01163" "00204502" "01163" "00204503" "01163" "00204504" "01163" "00204505" "01163" "00204506" "01163" "00292930" "00198" "00292931" "00198" "00292932" "00198" "00292933" "00198" "00414704" "04214" "00414705" "04214" "00414706" "04214" "00480080" "05608" "00480081" "00198" "00480082" "05608" "00480637" "00000" "00480638" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00138, 00198, 01163, 04214, 05378, 05608 ## Count = 7 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000122533" "01163" "00150110" "02359" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000306499" "04214" "00414704" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "galactosemia" "" "" "0000306500" "04214" "00414705" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "Lesch-Nyhan syndrome" "" "" "0000306501" "04214" "00414706" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "Tay-Sachs disease" "" "" "0000364585" "05608" "00480080" "04998" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SCIDADA" "ADA SCID" "" "0000364586" "00198" "00480081" "04998" "Unknown" "" "isolated B-cell deficiency, normalizing by three months" "" "" "" "" "" "" "" "" "" "" "0000364587" "05608" "00480082" "04998" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SCIDADA" "ADA SCID" "" ## Screenings ## Do not remove or alter this header ## ## Count = 58 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000008" "00000008" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000011" "00000011" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2021-10-11 11:49:29" "SEQ-NG" "DNA" "" "" "0000000012" "00000012" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000016" "00000016" "1" "00004" "" "2012-05-11 13:18:39" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000030" "00000030" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000031" "00000031" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000035" "00000035" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000050" "00000050" "1" "00004" "" "2012-05-11 13:18:49" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000056" "00000056" "1" "00004" "" "2012-05-11 13:18:52" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000061" "00000061" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000063" "00000063" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000068" "00000068" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000084" "00000084" "1" "00004" "" "2012-05-11 13:19:09" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000085" "00000085" "1" "00004" "" "2012-05-11 13:19:11" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000107" "00000107" "1" "00004" "" "2012-05-11 13:19:58" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000150965" "00150110" "1" "02359" "02359" "2018-01-10 09:52:44" "" "" "SEQ-NG" "DNA" "blood" "amplicon sequencing" "0000205506" "00204477" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205507" "00204478" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205508" "00204479" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205509" "00204480" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205510" "00204481" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205511" "00204482" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205512" "00204483" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205513" "00204484" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205514" "00204485" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205515" "00204486" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205516" "00204487" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205517" "00204488" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205518" "00204489" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205519" "00204490" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205520" "00204491" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205521" "00204492" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205522" "00204493" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205523" "00204494" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205524" "00204495" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205525" "00204496" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205526" "00204497" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205527" "00204498" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205528" "00204499" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205529" "00204500" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205530" "00204501" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205531" "00204502" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205532" "00204503" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205533" "00204504" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205534" "00204505" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000205535" "00204506" "1" "00233" "00233" "2012-02-29 11:28:23" "" "" "SEQ" "DNA" "" "" "0000294098" "00292930" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294099" "00292931" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294100" "00292932" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294101" "00292933" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000415985" "00414704" "1" "00000" "03840" "2022-08-02 11:28:48" "" "" "SEQ-NG" "DNA;RNA" "blood" "" "0000415986" "00414705" "1" "00000" "03840" "2022-08-02 11:28:48" "" "" "SEQ-NG" "DNA;RNA" "blood" "" "0000415987" "00414706" "1" "00000" "03840" "2022-08-02 11:28:48" "" "" "SEQ-NG" "DNA;RNA" "blood" "" "0000481726" "00480080" "1" "04998" "04998" "2026-06-25 11:35:49" "" "" "SEQ-NG" "DNA" "" "" "0000481727" "00480081" "1" "04998" "04998" "2026-06-25 12:34:37" "" "" "SEQ-NG" "DNA" "" "" "0000481728" "00480082" "1" "04998" "04998" "2026-06-25 12:56:48" "" "" "SEQ-NG" "DNA" "" "" "0000482283" "00480637" "1" "00006" "00006" "2026-07-06 14:19:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000482284" "00480638" "1" "00006" "00006" "2026-07-06 14:19:51" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 224 "{{screeningid}}" "{{geneid}}" "0000000008" "ACADM" "0000000008" "ADA" "0000000008" "ATP7B" "0000000008" "CFTR" "0000000008" "ETFB" "0000000008" "FKTN" "0000000008" "HESX1" "0000000008" "HGSNAT" "0000000008" "MYO5A" "0000000008" "NPHS1" "0000000008" "SERPINA1" "0000000008" "USH2A" "0000000011" "ACADM" "0000000011" "ADA" "0000000011" "ATP7B" "0000000011" "ATR" "0000000011" "CFTR" "0000000011" "DMD" "0000000011" "DPYD" "0000000011" "GLB1" "0000000011" "IGHMBP2" "0000000011" "NHLRC1" "0000000011" "SERPINA1" "0000000011" "SMPD1" "0000000011" "TNNT1" "0000000012" "ACADVL" "0000000012" "ADA" "0000000012" "AGL" "0000000012" "ATP7B" "0000000012" "CYP21A2" "0000000012" "DPYD" "0000000012" "ETFB" "0000000012" "GBA" "0000000012" "HGSNAT" "0000000012" "IGHMBP2" "0000000012" "LAMA2" "0000000012" "MYO5A" "0000000012" "NHLRC1" "0000000012" "NPHS1" "0000000012" "SERPINA1" "0000000012" "SLC26A2" "0000000016" "ADA" "0000000016" "ALG6" "0000000016" "ATP7B" "0000000016" "CFTR" "0000000016" "DPYD" "0000000016" "ENPP1" "0000000016" "GLB1" "0000000016" "IGHMBP2" "0000000016" "NPHS1" "0000000016" "PKHD1" "0000000030" "ADA" "0000000030" "ATP7B" "0000000030" "CPT2" "0000000030" "GALC" "0000000030" "HEXB" "0000000030" "IGHMBP2" "0000000030" "NHLRC1" "0000000030" "SBDS" "0000000030" "SERPINA1" "0000000030" "SLC26A2" "0000000030" "SMPD1" "0000000030" "TTPA" "0000000030" "WNT10A" "0000000031" "ADA" "0000000031" "ATP7B" "0000000031" "CYP21A2" "0000000031" "DPYD" "0000000031" "ETFB" "0000000031" "FKTN" "0000000031" "GAA" "0000000031" "GLB1" "0000000031" "IGHMBP2" "0000000031" "NHLRC1" "0000000031" "NPHS1" "0000000031" "SERPINA1" "0000000031" "TMEM67" "0000000031" "WNT10A" "0000000035" "ADA" "0000000035" "ATP7B" "0000000035" "BLM" "0000000035" "CFTR" "0000000035" "DPYD" "0000000035" "ETFB" "0000000035" "GLB1" "0000000035" "HBB" "0000000035" "IGHMBP2" "0000000035" "MYO5A" "0000000035" "PKHD1" "0000000035" "SERPINA1" "0000000035" "SMPD1" "0000000050" "ADA" "0000000050" "ATP7B" "0000000050" "CYP21A2" "0000000050" "DPYD" "0000000050" "ETFB" "0000000050" "GLB1" "0000000050" "IGHMBP2" "0000000056" "ACADL" "0000000056" "ADA" "0000000056" "ASPA" "0000000056" "ATP7B" "0000000056" "BTD" "0000000056" "CYP27A1" "0000000056" "DPYD" "0000000056" "ETFB" "0000000056" "GLB1" "0000000056" "HEXB" "0000000056" "IGHMBP2" "0000000056" "NPHS1" "0000000056" "SERPINA1" "0000000056" "SLC26A2" "0000000061" "ADA" "0000000061" "ATP7B" "0000000061" "BTD" "0000000061" "ETFB" "0000000061" "GLB1" "0000000061" "HEXB" "0000000061" "HSPG2" "0000000061" "MTHFR" "0000000061" "POMGNT1" "0000000061" "SERPINA1" "0000000061" "SMPD1" "0000000063" "ADA" "0000000063" "ATP7B" "0000000063" "COL7A1" "0000000063" "ETFB" "0000000063" "GLB1" "0000000063" "LYST" "0000000063" "MEFV" "0000000063" "NHLRC1" "0000000063" "NPHS1" "0000000063" "NTRK1" "0000000063" "SERPINA1" "0000000068" "ADA" "0000000068" "ATP7B" "0000000068" "BMPR2" "0000000068" "CDH23" "0000000068" "CYP21A2" "0000000068" "ENPP1" "0000000068" "ETFB" "0000000068" "FKTN" "0000000068" "HBB" "0000000068" "HGSNAT" "0000000068" "IGHMBP2" "0000000068" "IVD" "0000000068" "MTHFR" "0000000068" "MYO5A" "0000000068" "NPHS1" "0000000068" "SERPINA1" "0000000084" "ADA" "0000000084" "CPT1A" "0000000084" "FKRP" "0000000084" "GAA" "0000000084" "GLB1" "0000000084" "MYO5A" "0000000084" "NHLRC1" "0000000084" "NPHS1" "0000000084" "RAG1" "0000000084" "SERPINA1" "0000000084" "SMPD1" "0000000085" "ADA" "0000000085" "ATP7B" "0000000085" "ETFB" "0000000085" "FGG" "0000000085" "FKTN" "0000000085" "HEXB" "0000000085" "IGHMBP2" "0000000085" "MYO5A" "0000000085" "NHLRC1" "0000000085" "PKHD1" "0000000085" "POLG" "0000000085" "SERPINA1" "0000000085" "SGSH" "0000000107" "ADA" "0000000107" "BTD" "0000000107" "CLN3" "0000000107" "CLRN1" "0000000107" "CYP21A2" "0000000107" "GLB1" "0000000107" "MEFV" "0000000107" "MYO5A" "0000000107" "NHLRC1" "0000000107" "NPHS1" "0000000107" "SERPINA1" "0000000107" "SLC26A2" "0000000107" "WNT10A" "0000150965" "ADA" "0000205506" "ADA" "0000205507" "ADA" "0000205508" "ADA" "0000205509" "ADA" "0000205510" "ADA" "0000205511" "ADA" "0000205512" "ADA" "0000205513" "ADA" "0000205514" "ADA" "0000205515" "ADA" "0000205516" "ADA" "0000205517" "ADA" "0000205518" "ADA" "0000205519" "ADA" "0000205520" "ADA" "0000205521" "ADA" "0000205522" "ADA" "0000205523" "ADA" "0000205524" "ADA" "0000205525" "ADA" "0000205526" "ADA" "0000205527" "ADA" "0000205528" "ADA" "0000205529" "ADA" "0000205530" "ADA" "0000205531" "ADA" "0000205532" "ADA" "0000205533" "ADA" "0000205534" "ADA" "0000205535" "ADA" "0000415985" "GALT" "0000415986" "HPRT1" "0000415987" "HEXA" "0000481726" "ADA" "0000481727" "TAPBP" "0000481728" "ADA" ## 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 = 115 "{{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}}" "0000000872" "0" "50" "20" "43255220" "43255220" "subst" "0.0576151" "00002" "ADA_000030" "g.43255220T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44626579T>C" "" "VUS" "" "0000000874" "0" "50" "20" "43255220" "43255220" "subst" "0.0576151" "00002" "ADA_000030" "g.43255220T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44626579T>C" "" "VUS" "" "0000000876" "0" "50" "20" "43255220" "43255220" "subst" "0.0576151" "00002" "ADA_000030" "g.43255220T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44626579T>C" "" "VUS" "" "0000000877" "0" "50" "20" "43255220" "43255220" "subst" "0.0576151" "00002" "ADA_000030" "g.43255220T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44626579T>C" "" "VUS" "" "0000000879" "0" "50" "20" "43255220" "43255220" "subst" "0.0576151" "00002" "ADA_000030" "g.43255220T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44626579T>C" "" "VUS" "" "0000000880" "0" "50" "20" "43255220" "43255220" "subst" "0.0576151" "00002" "ADA_000030" "g.43255220T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44626579T>C" "" "VUS" "" "0000000881" "0" "50" "20" "43255220" "43255220" "subst" "0.0576151" "00002" "ADA_000030" "g.43255220T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44626579T>C" "" "VUS" "" "0000000882" "0" "50" "20" "43255220" "43255220" "subst" "0.0576151" "00002" "ADA_000030" "g.43255220T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44626579T>C" "" "VUS" "" "0000000883" "0" "50" "20" "43255220" "43255220" "subst" "0.0576151" "00002" "ADA_000030" "g.43255220T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44626579T>C" "" "VUS" "" "0000000884" "0" "50" "20" "43255220" "43255220" "subst" "0.0576151" "00002" "ADA_000030" "g.43255220T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44626579T>C" "" "VUS" "" "0000000885" "0" "50" "20" "43255220" "43255220" "subst" "0.0576151" "00002" "ADA_000030" "g.43255220T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44626579T>C" "" "VUS" "" "0000000886" "0" "50" "20" "43249723" "43249723" "subst" "3.6545E-5" "00002" "ADA_000031" "g.43249723A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44621082A>C" "" "VUS" "" "0000000887" "0" "50" "20" "43249032" "43249032" "subst" "4.87294E-5" "00002" "ADA_000028" "g.43249032G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44620391G>A" "" "VUS" "" "0000000888" "0" "50" "20" "43249032" "43249032" "subst" "4.87294E-5" "00002" "ADA_000028" "g.43249032G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44620391G>A" "" "VUS" "" "0000000889" "0" "50" "20" "43251694" "43251694" "subst" "5.68819E-5" "00002" "ADA_000022" "g.43251694C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44623053C>T" "" "VUS" "" "0000000890" "0" "50" "20" "43255233" "43255233" "subst" "0.000263994" "00002" "ADA_000002" "g.43255233G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44626592G>A" "" "VUS" "" "0000000891" "0" "50" "20" "43255139" "43255139" "subst" "6.49699E-5" "00002" "ADA_000007" "g.43255139A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44626498A>G" "" "VUS" "" "0000000892" "0" "50" "20" "43251253" "43251253" "subst" "4.06187E-5" "00002" "ADA_000026" "g.43251253G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44622612G>A" "" "VUS" "" "0000000893" "0" "50" "20" "43254222" "43254222" "subst" "0" "00002" "ADA_000015" "g.43254222G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44625581G>A" "" "VUS" "" "0000000894" "0" "90" "20" "43255242" "43255242" "subst" "0" "00002" "ADA_000032" "g.43255242T>C" "" "" "" "IVS3-2A>G" "" "Germline" "" "" "0" "" "" "g.44626601T>C" "" "pathogenic" "" "0000244112" "3" "90" "20" "43254208" "43254208" "subst" "0" "02359" "ADA_000033" "g.43254208A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.44625567A>G" "" "pathogenic" "" "0000258923" "0" "10" "20" "43264927" "43264927" "subst" "0.996422" "02325" "ADA_000039" "g.43264927C>T" "" "" "" "ADA(NM_000022.4):c.36G>A (p.V12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44636286C>T" "" "benign" "" "0000260591" "0" "30" "20" "43257744" "43257744" "subst" "0.00329359" "02326" "ADA_000038" "g.43257744C>T" "" "" "" "ADA(NM_000022.2):c.162G>A (p.K54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44629103C>T" "" "likely benign" "" "0000260592" "0" "10" "20" "43280227" "43280227" "subst" "0.0621731" "02326" "ADA_000040" "g.43280227C>T" "" "" "" "ADA(NM_000022.2):c.22G>A (p.D8N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651586C>T" "" "benign" "" "0000260593" "0" "30" "20" "43254263" "43254263" "subst" "0.000972089" "02326" "ADA_000037" "g.43254263C>T" "" "" "" "ADA(NM_000022.2):c.425G>A (p.R142Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44625622C>T" "" "likely benign" "" "0000260594" "0" "30" "20" "43252833" "43252833" "subst" "0.000632198" "02326" "ADA_000036" "g.43252833C>T" "" "" "" "ADA(NM_000022.2):c.606+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44624192C>T" "" "likely benign" "" "0000260595" "0" "90" "20" "43251514" "43251514" "subst" "0" "02326" "ADA_000035" "g.43251514G>A" "" "" "" "ADA(NM_000022.2):c.736C>T (p.Q246*), ADA(NM_000022.4):c.736C>T (p.Q246*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44622873G>A" "" "pathogenic" "" "0000261941" "0" "30" "20" "43248975" "43248975" "subst" "0" "01943" "ADA_000034" "g.43248975T>G" "" "" "" "ADA(NM_000022.2):c.1043A>C (p.Y348S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44620334T>G" "" "likely benign" "" "0000261942" "0" "30" "20" "43257744" "43257744" "subst" "0.00329359" "01943" "ADA_000038" "g.43257744C>T" "" "" "" "ADA(NM_000022.2):c.162G>A (p.K54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44629103C>T" "" "likely benign" "" "0000261943" "0" "30" "20" "43252833" "43252833" "subst" "0.000632198" "01943" "ADA_000036" "g.43252833C>T" "" "" "" "ADA(NM_000022.2):c.606+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44624192C>T" "" "likely benign" "" "0000343350" "0" "90" "20" "43255233" "43255233" "subst" "0.000263994" "02327" "ADA_000002" "g.43255233G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44626592G>A" "" "pathogenic" "" "0000434892" "0" "95" "20" "43264920" "43264920" "subst" "8.49574E-6" "00233" "ADA_000011" "g.43264920G>C" "" "{PMID:Santisteban et al (1995):7599635}" "" "" "submitted through SIB; {EXP:002210}" "Unknown" "" "" "0" "" "" "g.44636279G>C" "" "pathogenic" "" "0000434893" "0" "95" "20" "43264905" "43264905" "subst" "0" "00233" "ADA_000019" "g.43264905C>T" "" "{PMID:Yang et al (1994):8299233}" "" "" "submitted through SIB; {EXP:002211}" "Unknown" "" "" "0" "" "" "g.44636264C>T" "" "pathogenic" "" "0000434894" "0" "95" "20" "43255239" "43255239" "subst" "0" "00233" "ADA_000001" "g.43255239C>A" "" "{PMID:Arrendondo-Vega et al (1998):10200056}" "" "" "submitted through SIB; {EXP:002212}" "Unknown" "" "" "0" "" "" "g.44626598C>A" "" "pathogenic" "" "0000434895" "0" "95" "20" "43255233" "43255233" "subst" "0.000263994" "00233" "ADA_000002" "g.43255233G>A" "" "{PMID:Hirschhorn et al (1990):2166947}" "" "" "submitted through SIB; {EXP:002213}" "Unknown" "" "" "0" "" "" "g.44626592G>A" "" "pathogenic" "" "0000434896" "0" "95" "20" "43255211" "43255211" "subst" "0" "00233" "ADA_000003" "g.43255211G>T" "" "{PMID:Santisteban et al (1995):7599635}" "" "" "submitted through SIB; {EXP:002215}" "Unknown" "" "" "0" "" "" "g.44626570G>T" "" "pathogenic" "" "0000434897" "0" "95" "20" "43255158" "43255158" "subst" "0" "00233" "ADA_000004" "g.43255158G>A" "" "{PMID:Akeson et al (1988):3182793}" "" "" "submitted through SIB; {EXP:002217}" "Unknown" "" "" "0" "" "" "g.44626517G>A" "" "pathogenic" "" "0000434898" "0" "95" "20" "43255157" "43255157" "subst" "8.12117E-6" "00233" "ADA_000005" "g.43255157C>T" "" "{PMID:Bonthron et al (1985):3839802}" "" "" "submitted through SIB; {EXP:002218}" "Unknown" "" "" "0" "" "" "g.44626516C>T" "" "pathogenic" "" "0000434899" "0" "95" "20" "43255157" "43255157" "subst" "0" "00233" "ADA_000006" "g.43255157C>A" "" "{PMID:Santisteban et al (1993):8227344}" "" "" "submitted through SIB; {EXP:002216}" "Unknown" "" "" "0" "" "" "g.44626516C>A" "" "pathogenic" "" "0000434900" "0" "95" "20" "43255139" "43255139" "subst" "6.49699E-5" "00233" "ADA_000007" "g.43255139A>G" "" "{PMID:Hirschhorn et al (1990):2166947}" "" "" "submitted through SIB; {EXP:002219}" "Unknown" "" "" "0" "" "" "g.44626498A>G" "" "pathogenic" "" "0000434901" "0" "95" "20" "43254303" "43254303" "subst" "0" "00233" "ADA_000008" "g.43254303C>T" "" "{PMID:Arrendondo-Vega et al (1998):10200056}" "" "" "submitted through SIB; {EXP:002220}" "Unknown" "" "" "0" "" "" "g.44625662C>T" "" "pathogenic" "" "0000434902" "0" "95" "20" "43254269" "43254269" "subst" "0" "00233" "ADA_000009" "g.43254269C>T" "" "{PMID:Arrendondo-Vega et al (1998):10200056}" "" "" "submitted through SIB; {EXP:002221}" "Unknown" "" "" "0" "" "" "g.44625628C>T" "" "pathogenic" "" "0000434903" "0" "95" "20" "43254263" "43254263" "subst" "0.000972089" "00233" "ADA_000010" "g.43254263C>T" "" "{PMID:Santisteban et al (1995):8589684}" "" "" "submitted through SIB; {EXP:002222}" "Unknown" "" "" "0" "" "" "g.44625622C>T" "" "pathogenic" "" "0000434904" "0" "95" "20" "43254243" "43254243" "subst" "1.45791E-5" "00233" "ADA_000012" "g.43254243G>A" "" "{PMID:Arrendondo-Vega et al (1998):10200056}" "" "" "submitted through SIB; {EXP:002224}" "Unknown" "" "" "0" "" "" "g.44625602G>A" "" "pathogenic" "" "0000434905" "0" "95" "20" "43254242" "43254242" "subst" "0" "00233" "ADA_000013" "g.43254242C>T" "" "{PMID:Hirschhorn et al (1990):2166947}" "" "" "submitted through SIB; {EXP:002223}" "Unknown" "" "" "0" "" "" "g.44625601C>T" "" "pathogenic" "" "0000434906" "0" "95" "20" "43254234" "43254234" "subst" "0.000171577" "00233" "ADA_000014" "g.43254234G>T" "" "{PMID:Hirschhorn et al (1997):9225964}" "" "" "submitted through SIB; {EXP:002225}; partial ADA deficiency; found in a healthy Afghani child" "Unknown" "" "" "0" "" "" "g.44625593G>T" "" "pathogenic" "" "0000434907" "0" "95" "20" "43254222" "43254222" "subst" "0" "00233" "ADA_000015" "g.43254222G>A" "" "{PMID:Hirschhorn et al (1992):1284479}" "" "" "submitted through SIB; {EXP:002226}" "Unknown" "" "" "0" "" "" "g.44625581G>A" "" "pathogenic" "" "0000434908" "0" "95" "20" "43254221" "43254221" "subst" "0" "00233" "ADA_000016" "g.43254221C>T" "" "{PMID:Santisteban et al (1993):8227344}" "" "" "submitted through SIB; {EXP:002227}" "Unknown" "" "" "0" "" "" "g.44625580C>T" "" "pathogenic" "" "0000434909" "0" "95" "20" "43252920" "43252920" "subst" "2.03089E-5" "00233" "ADA_000017" "g.43252920C>T" "" "{PMID:Santisteban et al (1993):8227344}" "" "" "submitted through SIB; {EXP:002228}" "Unknown" "" "" "0" "" "" "g.44624279C>T" "" "pathogenic" "" "0000434910" "0" "95" "20" "43252913" "43252913" "subst" "1.62479E-5" "00233" "ADA_000018" "g.43252913G>T" "" "{PMID:Santisteban et al (1995):7599635}" "" "" "submitted through SIB; {EXP:002229}" "Unknown" "" "" "0" "" "" "g.44624272G>T" "" "pathogenic" "" "0000434911" "0" "95" "20" "43252853" "43252853" "subst" "0" "00233" "ADA_000020" "g.43252853T>G" "" "{PMID:Arrendondo-Vega et al (1998):10200056}" "" "" "submitted through SIB; {EXP:002230}" "Unknown" "" "" "0" "" "" "g.44624212T>G" "" "pathogenic" "" "0000434912" "0" "95" "20" "43251695" "43251695" "subst" "0.000121886" "00233" "ADA_000021" "g.43251695G>A" "" "{PMID:Hirschhorn et al (1990):2166947}" "" "" "submitted through SIB; {EXP:002231}" "Unknown" "" "" "0" "" "" "g.44623054G>A" "" "pathogenic" "" "0000434913" "0" "95" "20" "43251694" "43251694" "subst" "5.68819E-5" "00233" "ADA_000022" "g.43251694C>T" "" "{PMID:Akeson et al (1988):3182793}" "" "" "submitted through SIB; {EXP:002232}" "Unknown" "" "" "0" "" "" "g.44623053C>T" "" "pathogenic" "" "0000434914" "0" "95" "20" "43251683" "43251683" "subst" "7.7173E-5" "00233" "ADA_000023" "g.43251683C>T" "" "{PMID:Hirschhorn et al (1990):2166947}" "" "" "submitted through SIB; {EXP:002233}" "Unknown" "" "" "0" "" "" "g.44623042C>T" "" "pathogenic" "" "0000434915" "0" "95" "20" "43251680" "43251680" "subst" "8.12321E-6" "00233" "ADA_000024" "g.43251680C>T" "" "{PMID:Santisteban et al (1993):8227344}" "" "" "submitted through SIB; {EXP:002234}" "Unknown" "" "" "0" "" "" "g.44623039C>T" "" "pathogenic" "" "0000434916" "0" "95" "20" "43251552" "43251552" "subst" "0" "00233" "ADA_000025" "g.43251552G>A" "" "{PMID:Hirschhorn et al (1997):9225964}" "" "" "submitted through SIB; {EXP:002235}; partial ADA deficiency; found in a healthy young adult Kung individual" "Unknown" "" "" "0" "" "" "g.44622911G>A" "" "pathogenic" "" "0000434917" "0" "95" "20" "43251253" "43251253" "subst" "4.06187E-5" "00233" "ADA_000026" "g.43251253G>A" "" "{PMID:Hirschhorn et al (1990):2166947}" "" "" "submitted through SIB; {EXP:002236}" "Unknown" "" "" "0" "" "" "g.44622612G>A" "" "pathogenic" "" "0000434918" "0" "95" "20" "43249762" "43249762" "subst" "2.03028E-5" "00233" "ADA_000027" "g.43249762G>A" "" "{PMID:Santisteban et al (1993):8227344}" "" "" "submitted through SIB; {EXP:002237}" "Unknown" "" "" "0" "" "" "g.44621121G>A" "" "pathogenic" "" "0000434919" "0" "95" "20" "43249762" "43249762" "subst" "2.03028E-5" "00233" "ADA_000027" "g.43249762G>A" "" "{PMID:Hirschhorn et al (1992):1284479}" "" "" "submitted through SIB; {EXP:002237}" "Unknown" "" "" "0" "" "" "g.44621121G>A" "" "pathogenic" "" "0000434920" "0" "95" "20" "43249744" "43249744" "subst" "2.43635E-5" "00233" "ADA_000029" "g.43249744G>T" "" "{PMID:Hirschhorn et al (1989):2783588}" "" "" "submitted through SIB; {EXP:002238}; partial ADA deficiency" "Unknown" "" "" "0" "" "" "g.44621103G>T" "" "pathogenic" "" "0000434921" "0" "95" "20" "43249032" "43249032" "subst" "4.87294E-5" "00233" "ADA_000028" "g.43249032G>A" "" "{PMID:Akeson et al (1988):3182793}" "" "" "submitted through SIB; {EXP:002240}" "Unknown" "" "" "0" "" "" "g.44620391G>A" "" "pathogenic" "" "0000569766" "0" "30" "20" "43246938" "43246938" "subst" "4.06455E-6" "01804" "ADA_000041" "g.43246938A>C" "" "" "" "PKIG(NM_001281444.1):c.164A>C (p.(Glu55Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44618297A>C" "" "likely benign" "" "0000569767" "0" "90" "20" "43249762" "43249762" "subst" "2.03028E-5" "01943" "ADA_000027" "g.43249762G>A" "" "" "" "ADA(NM_000022.2):c.872C>T (p.S291L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44621121G>A" "" "pathogenic" "" "0000569768" "0" "30" "20" "43252979" "43252979" "subst" "2.84407E-5" "01943" "ADA_000042" "g.43252979G>A" "" "" "" "ADA(NM_000022.2):c.479-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44624338G>A" "" "likely benign" "" "0000569769" "0" "30" "20" "43254263" "43254263" "subst" "0.000972089" "01943" "ADA_000010" "g.43254263C>T" "" "" "" "ADA(NM_000022.2):c.425G>A (p.R142Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44625622C>T" "" "likely benign" "" "0000569770" "0" "90" "20" "43254264" "43254264" "subst" "0" "01943" "ADA_000043" "g.43254264G>A" "" "" "" "ADA(NM_000022.2):c.424C>T (p.R142*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44625623G>A" "" "pathogenic" "" "0000569771" "0" "30" "20" "43257800" "43257800" "subst" "4.06355E-6" "01804" "ADA_000044" "g.43257800T>G" "" "" "" "ADA(NM_000022.2):c.106A>C (p.(Ile36Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44629159T>G" "" "likely benign" "" "0000569772" "0" "10" "20" "43264859" "43264859" "subst" "0.000668629" "01943" "ADA_000045" "g.43264859T>C" "" "" "" "ADA(NM_000022.2):c.95+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44636218T>C" "" "benign" "" "0000569773" "0" "30" "20" "43280228" "43280228" "subst" "0" "01943" "ADA_000046" "g.43280228G>A" "" "" "" "ADA(NM_000022.2):c.21C>T (p.F7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44651587G>A" "" "likely benign" "" "0000618165" "0" "90" "20" "43249032" "43249032" "subst" "4.87294E-5" "02327" "ADA_000028" "g.43249032G>A" "" "" "" "ADA(NM_000022.2):c.986C>T (p.A329V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620391G>A" "" "pathogenic" "" "0000618166" "0" "30" "20" "43249693" "43249693" "subst" "7.71505E-5" "01943" "ADA_000048" "g.43249693T>C" "" "" "" "ADA(NM_000022.2):c.941A>G (p.D314G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44621052T>C" "" "likely benign" "" "0000618167" "0" "90" "20" "43249762" "43249762" "subst" "2.03028E-5" "02327" "ADA_000027" "g.43249762G>A" "" "" "" "ADA(NM_000022.2):c.872C>T (p.S291L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44621121G>A" "" "pathogenic" "" "0000624160" "0" "30" "20" "43249649" "43249649" "subst" "1.21819E-5" "02326" "ADA_000047" "g.43249649A>C" "" "" "" "ADA(NM_000022.2):c.975+10T>G, ADA(NM_000022.4):c.975+10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44621008A>C" "" "likely benign" "" "0000624161" "0" "30" "20" "43280213" "43280213" "subst" "0" "02326" "ADA_000049" "g.43280213C>T" "" "" "" "ADA(NM_000022.2):c.33+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44651572C>T" "" "likely benign" "" "0000650787" "1" "90" "20" "43249744" "43249744" "subst" "2.43635E-5" "03575" "ADA_000029" "g.43249744G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121908718}" "Germline" "" "rs121908718" "0" "" "" "g.44621103G>T" "" "pathogenic" "" "0000650788" "1" "50" "20" "43251493" "43251493" "subst" "4.06055E-5" "03575" "ADA_000050" "g.43251493G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs201944717}" "Germline" "" "rs201944717" "0" "" "" "g.44622852G>A" "" "VUS" "" "0000650789" "1" "70" "20" "43254222" "43254222" "subst" "0" "03575" "ADA_000015" "g.43254222G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121908735}" "Germline" "" "rs121908735" "0" "" "" "g.44625581G>A" "" "likely pathogenic" "" "0000650790" "1" "50" "20" "43254234" "43254234" "subst" "0.000171577" "03575" "ADA_000014" "g.43254234G>T" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs121908728}" "Germline" "" "rs121908728" "0" "" "" "g.44625593G>T" "" "VUS" "" "0000658768" "0" "30" "20" "43248495" "43248495" "subst" "0.000109931" "01943" "ADA_000051" "g.43248495G>A" "" "" "" "ADA(NM_000022.2):c.1079-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44619854G>A" "" "likely benign" "" "0000658769" "0" "30" "20" "43248495" "43248495" "subst" "0.000109931" "02326" "ADA_000051" "g.43248495G>A" "" "" "" "ADA(NM_000022.2):c.1079-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44619854G>A" "" "likely benign" "" "0000658770" "0" "90" "20" "43249032" "43249032" "subst" "4.87294E-5" "01943" "ADA_000028" "g.43249032G>A" "" "" "" "ADA(NM_000022.2):c.986C>T (p.A329V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620391G>A" "" "pathogenic" "" "0000681619" "0" "30" "20" "43251681" "43251681" "subst" "0.000129978" "02326" "ADA_000052" "g.43251681G>A" "" "" "" "ADA(NM_000022.2):c.645C>T (p.A215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692987" "0" "30" "20" "43264859" "43264859" "subst" "0.000668629" "02326" "ADA_000045" "g.43264859T>C" "" "" "" "ADA(NM_000022.2):c.95+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727695" "0" "30" "20" "43257761" "43257761" "subst" "4.06124E-6" "01943" "ADA_000053" "g.43257761C>T" "" "" "" "ADA(NM_000022.2):c.145G>A (p.V49I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809254" "0" "90" "20" "43251546" "43251546" "subst" "4.06062E-6" "02329" "ADA_000054" "g.43251546C>T" "" "" "" "ADA(NM_000022.4):c.704G>A (p.R235Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855851" "0" "30" "20" "43254285" "43254285" "subst" "0" "01943" "ADA_000055" "g.43254285G>C" "" "" "" "ADA(NM_000022.2):c.403C>G (p.Q135E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866504" "0" "90" "20" "43255157" "43255157" "subst" "8.12117E-6" "02327" "ADA_000005" "g.43255157C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866505" "0" "90" "20" "43255242" "43255242" "subst" "0" "02327" "ADA_000032" "g.43255242T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866506" "0" "90" "20" "43280215" "43280215" "subst" "0" "02327" "ADA_000056" "g.43280215C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866507" "0" "90" "20" "43280242" "43280242" "subst" "0" "01943" "ADA_000057" "g.43280242G>A" "" "" "" "ADA(NM_000022.2):c.7C>T (p.Q3*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000873898" "0" "10" "20" "43255220" "43255220" "subst" "0.0576151" "00000" "ADA_000030" "g.43255220T>C" "" "{PMID:Bell 2011:21228398}" "" "ADA 20:42688634 (hg18) het CM860001 14.4%" "non-causative, heterozygous" "Germline" "?" "" "0" "" "" "g.44626579T>C" "" "benign" "" "0000873910" "0" "10" "20" "43255220" "43255220" "subst" "0.0576151" "00000" "ADA_000030" "g.43255220T>C" "" "{PMID:Bell 2011:21228398}" "" "ADA 20:42688634 (hg18) het CM860001 14.4%" "non-causative, heterozygous" "Germline" "?" "" "0" "" "" "g.44626579T>C" "" "benign" "" "0000873924" "0" "10" "20" "43255220" "43255220" "subst" "0.0576151" "00000" "ADA_000030" "g.43255220T>C" "" "{PMID:Bell 2011:21228398}" "" "ADA 20:42688634 (hg18) het CM860001 14.4%" "non-causative, heterozygous" "Germline" "?" "" "0" "" "" "g.44626579T>C" "" "benign" "" "0000895338" "0" "30" "20" "43251240" "43251240" "subst" "0.0039521" "02326" "ADA_000058" "g.43251240A>G" "" "" "" "ADA(NM_000022.2):c.834T>C (p.H278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895339" "0" "30" "20" "43251252" "43251252" "subst" "0.000158421" "02326" "ADA_000059" "g.43251252C>T" "" "" "" "ADA(NM_000022.2):c.822G>A (p.P274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895340" "0" "50" "20" "43254237" "43254237" "subst" "0" "02327" "ADA_000060" "g.43254237T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915376" "0" "30" "20" "43248975" "43248975" "subst" "0" "02326" "ADA_000034" "g.43248975T>G" "" "" "" "ADA(NM_000022.2):c.1043A>C (p.Y348S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983806" "0" "30" "20" "43249649" "43249649" "subst" "1.21819E-5" "01804" "ADA_000047" "g.43249649A>C" "" "" "" "ADA(NM_000022.2):c.975+10T>G, ADA(NM_000022.4):c.975+10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983807" "0" "50" "20" "43254306" "43254306" "subst" "0" "01804" "ADA_000061" "g.43254306C>T" "" "" "" "ADA(NM_000022.4):c.382G>A (p.(Glu128Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983808" "0" "50" "20" "43264902" "43264902" "subst" "1.67205E-5" "01804" "ADA_000062" "g.43264902A>C" "" "" "" "ADA(NM_000022.4):c.61T>G (p.(Ser21Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027320" "0" "70" "20" "43249744" "43249744" "subst" "2.43635E-5" "02327" "ADA_000029" "g.43249744G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001027321" "0" "70" "20" "43254242" "43254242" "subst" "0" "02327" "ADA_000013" "g.43254242C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001027322" "0" "90" "20" "43255139" "43255139" "subst" "6.49699E-5" "02327" "ADA_000007" "g.43255139A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001043354" "0" "50" "20" "43252941" "43252941" "subst" "4.06101E-5" "01804" "ADA_000063" "g.43252941T>C" "" "" "" "ADA(NM_000022.4):c.508A>G (p.(Lys170Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043355" "0" "50" "20" "43254246" "43254246" "subst" "0" "01804" "ADA_000064" "g.43254246C>A" "" "" "" "ADA(NM_000022.4):c.442G>T (p.(Ala148Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046780" "0" "90" "20" "43251514" "43251514" "subst" "0" "02325" "ADA_000035" "g.43251514G>A" "" "" "" "ADA(NM_000022.2):c.736C>T (p.Q246*), ADA(NM_000022.4):c.736C>T (p.Q246*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001056901" "0" "50" "20" "43257727" "43257727" "subst" "1.21827E-5" "01804" "ADA_000065" "g.43257727T>C" "" "" "" "ADA(NM_000022.4):c.179A>G (p.(Asp60Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067335" "0" "30" "20" "43251663" "43251663" "subst" "1.2183E-5" "02325" "ADA_000066" "g.43251663G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001067336" "0" "30" "20" "43280227" "43280227" "subst" "0.0621731" "02325" "ADA_000040" "g.43280227C>T" "" "" "" "ADA(NM_000022.2):c.22G>A (p.D8N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001078575" "21" "90" "20" "43254204" "43254204" "subst" "0" "04998" "ADA_000069" "g.43254204A>G" "" "" "" "" "" "Germline" "" "rs1555844600" "0" "" "" "g.44625563A>G" "RCV002533920.5" "likely pathogenic" "ACMG" "0001078576" "11" "90" "20" "43249762" "43249762" "subst" "2.03028E-5" "04998" "ADA_000027" "g.43249762G>A" "" "" "" "g.43249762C>T" "" "Germline" "" "" "0" "" "" "g.44621121G>A" "RCV000002048.26" "pathogenic (recessive)" "ACMG" "0001078578" "0" "50" "20" "43251499" "43251499" "subst" "4.06055E-6" "04998" "ADA_000068" "g.43251499T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44622858T>A" "RCV001352333.9" "VUS" "ACMG" "0001078579" "3" "90" "20" "43249675" "43249679" "del" "0" "04998" "ADA_000067" "g.43249675_43249679del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44621034_44621038del" "" "likely pathogenic (recessive)" "ACMG" "0001079427" "0" "90" "20" "43264905" "43264905" "subst" "0" "00006" "ADA_000019" "g.43264905C>T" "1/276 unrelated individuals" "{PMID:Kostoulas 2026:42212615}" "" "" "" "Germline" "" "rs121908724" "0" "" "" "g.44636264C>T" "" "pathogenic" "" "0001079428" "0" "90" "20" "43251546" "43251546" "subst" "4.06062E-6" "00006" "ADA_000054" "g.43251546C>T" "1/276 unrelated individuals" "{PMID:Kostoulas 2026:42212615}" "" "" "" "Germline" "" "rs79281338" "0" "" "" "g.44622905C>T" "" "pathogenic" "" ## 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 ADA ## Count = 115 "{{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}}" "0000000872" "00000165" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Lys80Arg)" "" "0000000874" "00000165" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Lys80Arg)" "" "0000000876" "00000165" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Lys80Arg)" "" "0000000877" "00000165" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Lys80Arg)" "" "0000000879" "00000165" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Lys80Arg)" "" "0000000880" "00000165" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Lys80Arg)" "" "0000000881" "00000165" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Lys80Arg)" "" "0000000882" "00000165" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Lys80Arg)" "" "0000000883" "00000165" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Lys80Arg)" "" "0000000884" "00000165" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Lys80Arg)" "" "0000000885" "00000165" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Lys80Arg)" "" "0000000886" "00000165" "50" "911" "0" "911" "0" "c.911T>G" "r.(?)" "p.(Leu304Arg)" "" "0000000887" "00000165" "50" "986" "0" "986" "0" "c.986C>T" "r.(?)" "p.(Ala329Val)" "" "0000000888" "00000165" "50" "986" "0" "986" "0" "c.986C>T" "r.(?)" "p.(Ala329Val)" "" "0000000889" "00000165" "50" "632" "0" "632" "0" "c.632G>A" "r.(?)" "p.(Arg211His)" "" "0000000890" "00000165" "50" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Arg76Trp)" "" "0000000891" "00000165" "50" "320" "0" "320" "0" "c.320T>C" "r.(?)" "p.(Leu107Pro)" "" "0000000892" "00000165" "50" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Pro274Leu)" "" "0000000893" "00000165" "50" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156Cys)" "" "0000000894" "00000165" "90" "219" "-2" "219" "-2" "c.219-2A>G" "r.219_362del" "p.Gly74_Glu121del" "3i" "0000244112" "00000165" "90" "478" "2" "478" "2" "c.478+2T>C" "r.spl?" "p.?" "5i" "0000258923" "00000165" "10" "36" "0" "36" "0" "c.36=" "r.(=)" "p.(Val12=)" "" "0000260591" "00000165" "30" "162" "0" "162" "0" "c.162G>A" "r.(?)" "p.(Lys54=)" "" "0000260592" "00000165" "10" "22" "0" "22" "0" "c.22G>A" "r.(?)" "p.(Asp8Asn)" "" "0000260593" "00000165" "30" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142Gln)" "" "0000260594" "00000165" "30" "606" "10" "606" "10" "c.606+10G>A" "r.(=)" "p.(=)" "" "0000260595" "00000165" "90" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Gln246Ter)" "" "0000261941" "00000165" "30" "1043" "0" "1043" "0" "c.1043A>C" "r.(?)" "p.(Tyr348Ser)" "" "0000261942" "00000165" "30" "162" "0" "162" "0" "c.162G>A" "r.(?)" "p.(Lys54=)" "" "0000261943" "00000165" "30" "606" "10" "606" "10" "c.606+10G>A" "r.(=)" "p.(=)" "" "0000343350" "00000165" "90" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Arg76Trp)" "" "0000434892" "00000165" "95" "43" "0" "43" "0" "c.43C>G" "r.(?)" "p.(His15Asp)" "2" "0000434893" "00000165" "95" "58" "0" "58" "0" "c.58G>A" "r.(?)" "p.(Gly20Arg)" "2" "0000434894" "00000165" "95" "220" "0" "220" "0" "c.220G>T" "r.(?)" "p.(Gly74Cys)" "4" "0000434895" "00000165" "95" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Arg76Trp)" "4" "0000434896" "00000165" "95" "248" "0" "248" "0" "c.248C>A" "r.(?)" "p.(Ala83Asp)" "4" "0000434897" "00000165" "95" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Trp)" "4" "0000434898" "00000165" "95" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101Gln)" "4" "0000434899" "00000165" "95" "302" "0" "302" "0" "c.302G>T" "r.(?)" "p.(Arg101Leu)" "4" "0000434900" "00000165" "95" "320" "0" "320" "0" "c.320T>C" "r.(?)" "p.(Leu107Pro)" "4" "0000434901" "00000165" "95" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Val129Met)" "5" "0000434902" "00000165" "95" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Gly140Glu)" "5" "0000434903" "00000165" "95" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142Gln)" "5" "0000434904" "00000165" "95" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Trp)" "5" "0000434905" "00000165" "95" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Arg149Gln)" "5" "0000434906" "00000165" "95" "454" "0" "454" "0" "c.454C>A" "r.(?)" "p.(Leu152Met)" "5" "0000434907" "00000165" "95" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156Cys)" "5" "0000434908" "00000165" "95" "467" "0" "467" "0" "c.467G>A" "r.(?)" "p.(Arg156His)" "5" "0000434909" "00000165" "95" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Val177Met)" "6" "0000434910" "00000165" "95" "536" "0" "536" "0" "c.536C>A" "r.(?)" "p.(Ala179Asp)" "6" "0000434911" "00000165" "95" "596" "0" "596" "0" "c.596A>C" "r.(?)" "p.(Gln199Pro)" "6" "0000434912" "00000165" "95" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Arg211Cys)" "7" "0000434913" "00000165" "95" "632" "0" "632" "0" "c.632G>A" "r.(?)" "p.(Arg211His)" "7" "0000434914" "00000165" "95" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Ala215Thr)" "7" "0000434915" "00000165" "95" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Gly216Arg)" "7" "0000434916" "00000165" "95" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Ile)" "8" "0000434917" "00000165" "95" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Pro274Leu)" "9" "0000434918" "00000165" "95" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Ser291Leu)" "10" "0000434919" "00000165" "95" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Ser291Leu)" "10" "0000434920" "00000165" "95" "890" "0" "890" "0" "c.890C>A" "r.(?)" "p.(Pro297Gln)" "10" "0000434921" "00000165" "95" "986" "0" "986" "0" "c.986C>T" "r.(?)" "p.(Ala329Val)" "11" "0000569766" "00000165" "30" "2629" "0" "2629" "0" "c.*1537T>G" "r.(=)" "p.(=)" "" "0000569767" "00000165" "90" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Ser291Leu)" "" "0000569768" "00000165" "30" "479" "-9" "479" "-9" "c.479-9C>T" "r.(=)" "p.(=)" "" "0000569769" "00000165" "30" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142Gln)" "" "0000569770" "00000165" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Ter)" "" "0000569771" "00000165" "30" "106" "0" "106" "0" "c.106A>C" "r.(?)" "p.(Ile36Leu)" "" "0000569772" "00000165" "10" "95" "9" "95" "9" "c.95+9A>G" "r.(=)" "p.(=)" "" "0000569773" "00000165" "30" "21" "0" "21" "0" "c.21C>T" "r.(?)" "p.(Phe7=)" "" "0000618165" "00000165" "90" "986" "0" "986" "0" "c.986C>T" "r.(?)" "p.(Ala329Val)" "" "0000618166" "00000165" "30" "941" "0" "941" "0" "c.941A>G" "r.(?)" "p.(Asp314Gly)" "" "0000618167" "00000165" "90" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Ser291Leu)" "" "0000624160" "00000165" "30" "975" "10" "975" "10" "c.975+10T>G" "r.(=)" "p.(=)" "" "0000624161" "00000165" "30" "33" "3" "33" "3" "c.33+3G>A" "r.spl?" "p.?" "" "0000650787" "00000165" "90" "890" "0" "890" "0" "c.890C>A" "r.(?)" "p.(Pro297Gln)" "" "0000650788" "00000165" "50" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Arg253Trp)" "" "0000650789" "00000165" "70" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156Cys)" "" "0000650790" "00000165" "50" "454" "0" "454" "0" "c.454C>A" "r.(?)" "p.(Leu152Met)" "" "0000658768" "00000165" "30" "1079" "-7" "1079" "-7" "c.1079-7C>T" "r.(=)" "p.(=)" "" "0000658769" "00000165" "30" "1079" "-7" "1079" "-7" "c.1079-7C>T" "r.(=)" "p.(=)" "" "0000658770" "00000165" "90" "986" "0" "986" "0" "c.986C>T" "r.(?)" "p.(Ala329Val)" "" "0000681619" "00000165" "30" "645" "0" "645" "0" "c.645C>T" "r.(?)" "p.(Ala215=)" "" "0000692987" "00000165" "30" "95" "9" "95" "9" "c.95+9A>G" "r.(=)" "p.(=)" "" "0000727695" "00000165" "30" "145" "0" "145" "0" "c.145G>A" "r.(?)" "p.(Val49Ile)" "" "0000809254" "00000165" "90" "704" "0" "704" "0" "c.704G>A" "r.(?)" "p.(Arg235Gln)" "" "0000855851" "00000165" "30" "403" "0" "403" "0" "c.403C>G" "r.(?)" "p.(Gln135Glu)" "" "0000866504" "00000165" "90" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101Gln)" "" "0000866505" "00000165" "90" "219" "-2" "219" "-2" "c.219-2A>G" "r.spl?" "p.?" "" "0000866506" "00000165" "90" "33" "1" "33" "1" "c.33+1G>C" "r.spl?" "p.?" "" "0000866507" "00000165" "90" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Gln3*)" "" "0000873898" "00000165" "10" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Lys80Arg)" "" "0000873910" "00000165" "10" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Lys80Arg)" "" "0000873924" "00000165" "10" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Lys80Arg)" "" "0000895338" "00000165" "30" "834" "0" "834" "0" "c.834T>C" "r.(?)" "p.(His278=)" "" "0000895339" "00000165" "30" "822" "0" "822" "0" "c.822G>A" "r.(?)" "p.(Pro274=)" "" "0000895340" "00000165" "50" "451" "0" "451" "0" "c.451A>G" "r.(?)" "p.(Ile151Val)" "" "0000915376" "00000165" "30" "1043" "0" "1043" "0" "c.1043A>C" "r.(?)" "p.(Tyr348Ser)" "" "0000983806" "00000165" "30" "975" "10" "975" "10" "c.975+10T>G" "r.(=)" "p.(=)" "" "0000983807" "00000165" "50" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Glu128Lys)" "" "0000983808" "00000165" "50" "61" "0" "61" "0" "c.61T>G" "r.(?)" "p.(Ser21Ala)" "" "0001027320" "00000165" "70" "890" "0" "890" "0" "c.890C>A" "r.(?)" "p.(Pro297Gln)" "" "0001027321" "00000165" "70" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Arg149Gln)" "" "0001027322" "00000165" "90" "320" "0" "320" "0" "c.320T>C" "r.(?)" "p.(Leu107Pro)" "" "0001043354" "00000165" "50" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Lys170Glu)" "" "0001043355" "00000165" "50" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Ala148Ser)" "" "0001046780" "00000165" "90" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Gln246Ter)" "" "0001056901" "00000165" "50" "179" "0" "179" "0" "c.179A>G" "r.(?)" "p.(Asp60Gly)" "" "0001067335" "00000165" "30" "663" "0" "663" "0" "c.663C>T" "r.(?)" "p.(=)" "" "0001067336" "00000165" "30" "22" "0" "22" "0" "c.22G>A" "r.(?)" "p.(Asp8Asn)" "" "0001078575" "00000165" "90" "478" "6" "478" "6" "c.478+6T>C" "r.spl" "p.?" "" "0001078576" "00000165" "90" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Ser291Leu)" "" "0001078578" "00000165" "50" "751" "0" "751" "0" "c.751A>T" "r.(?)" "p.(Arg251Trp)" "7" "0001078579" "00000165" "90" "956" "0" "960" "0" "c.956_960del" "r.(?)" "p.(Glu319GlyfsTer3)" "10" "0001079427" "00000165" "90" "58" "0" "58" "0" "c.58G>A" "r.(?)" "p.(Gly20Arg)" "" "0001079428" "00000165" "90" "704" "0" "704" "0" "c.704G>A" "r.(?)" "p.(Arg235Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 64 "{{screeningid}}" "{{variantid}}" "0000000008" "0000000884" "0000000011" "0000000879" "0000000012" "0000000890" "0000000012" "0000000892" "0000000016" "0000000880" "0000000030" "0000000876" "0000000031" "0000000874" "0000000035" "0000000888" "0000000035" "0000000894" "0000000050" "0000000877" "0000000050" "0000000886" "0000000050" "0000000893" "0000000056" "0000000883" "0000000061" "0000000882" "0000000063" "0000000891" "0000000068" "0000000887" "0000000068" "0000000889" "0000000084" "0000000881" "0000000085" "0000000872" "0000000107" "0000000885" "0000150965" "0000244112" "0000205506" "0000434892" "0000205507" "0000434893" "0000205508" "0000434894" "0000205509" "0000434895" "0000205510" "0000434896" "0000205511" "0000434897" "0000205512" "0000434898" "0000205513" "0000434899" "0000205514" "0000434900" "0000205515" "0000434901" "0000205516" "0000434902" "0000205517" "0000434903" "0000205518" "0000434904" "0000205519" "0000434905" "0000205520" "0000434906" "0000205521" "0000434907" "0000205522" "0000434908" "0000205523" "0000434909" "0000205524" "0000434910" "0000205525" "0000434911" "0000205526" "0000434912" "0000205527" "0000434913" "0000205528" "0000434914" "0000205529" "0000434915" "0000205530" "0000434916" "0000205531" "0000434917" "0000205532" "0000434918" "0000205533" "0000434919" "0000205534" "0000434920" "0000205535" "0000434921" "0000294098" "0000650787" "0000294099" "0000650788" "0000294100" "0000650789" "0000294101" "0000650790" "0000415985" "0000873898" "0000415986" "0000873910" "0000415987" "0000873924" "0000481726" "0001078575" "0000481726" "0001078576" "0000481727" "0001078578" "0000481728" "0001078579" "0000482283" "0001079427" "0000482284" "0001079428"