### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GATA2)
# 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}}"
"GATA2" "GATA binding protein 2" "3" "q21" "unknown" "LRG_295" "UD_132084539066" "" "https://www.LOVD.nl/GATA2" "" "1" "4171" "2624" "137295" "1" "1" "1" "1" "![](\"docs/Leuven_UCL_logo.png\")
This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GATA2_codingDNA.html" "1" "" "
This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases." "-1" "" "-1" "00001" "2013-04-03 00:00:00" "00006" "2018-05-11 17:35:11" "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}}"
"00024202" "GATA2" "transcript variant 1" "002" "NM_001145661.1" "" "NP_001139133.1" "" "" "" "-435" "3040" "1443" "128207373" "128198265" "00006" "2016-11-24 22:15:54" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 11
"{{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" "" ""
"00132" "MDS" "myelodysplastic syndrome (MDS)" "SMo" "614286" "" "" "" "00006" "2013-05-17 15:26:22" "00006" "2024-05-24 16:19:35"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00908" "AML" "leukemia, myeloid, acute (AML)" "" "601626" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05"
"03526" "-" "Emberger syndrome" "AD" "614038" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"03571" "IMD21" "Immunodeficiency 21" "AD" "614172" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04333" "ADCAD" "artery, coronary, disease, autosomal dominant (ADCAD)" "" "" "" "" "" "00006" "2015-09-20 22:14:25" "" ""
"05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05"
"05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" ""
"05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59"
"05992" "CHAPLE" "Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy" "AR" "226300" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}" "{{diseaseid}}"
"GATA2" "00132"
"GATA2" "00908"
"GATA2" "03526"
"GATA2" "03571"
## Individuals ## Do not remove or alter this header ##
## Count = 44
"{{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}}"
"00245811" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245812" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245813" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245814" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245815" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245816" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245817" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245818" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245819" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245820" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245821" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245822" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245823" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245824" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245825" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245826" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245827" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245828" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245829" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245830" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245831" "" "" "" "1" "" "00000" "{PMID:Mansour 2010:20803646}" "3 affected family members" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "European" ""
"00245832" "" "" "" "1" "" "00000" "{PMID:Mansour 2010:20803646}" "5 affected family members" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "European" ""
"00245833" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245834" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245835" "" "" "" "1" "" "00000" "{PMID:Mansour 2010:20803646}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "European" ""
"00245836" "" "" "" "1" "" "00000" "{OMIM614038:}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "Chinese" ""
"00245837" "" "" "" "1" "" "00000" "{OMIM614038:}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "European" ""
"00245838" "" "" "" "1" "" "00000" "{PMID:Mansour 2010:20803646}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "European" ""
"00245839" "" "" "" "1" "" "00000" "{OMIM614038:}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "European" ""
"00245840" "" "" "" "1" "" "00034" "{PMID:Mansour 2010:20803646}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "European" ""
"00245841" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245842" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245843" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00293198" "" "" "" "36" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00293199" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00293200" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00335038" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00380787" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?"
"00402918" "" "" "" "1" "" "00006" "{PMID:Ozen 2017:28657829}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "Fam3Pat1"
"00433107" "" "" "" "2" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "2-generation family, affected twin sisters, unaffected heterozygous carrier parents" "F" "" "Norway" "45y" "0" "" "" "" "Pat84,1/84,4"
"00433109" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "Norway" "" "0" "" "" "" "Pat86,1"
"00433111" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "Norway" "" "0" "" "" "" "Pat88,1"
"00443658" "" "" "" "1" "" "04599" "" "" "F" "" "Mexico" "" "0" "" "" "Mexican" "UCDMX004_S4"
"00461043" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 44
"{{individualid}}" "{{diseaseid}}"
"00245811" "03571"
"00245812" "03571"
"00245813" "03571"
"00245814" "03571"
"00245815" "03571"
"00245816" "03571"
"00245817" "03571"
"00245818" "03571"
"00245819" "03571"
"00245820" "03571"
"00245821" "03571"
"00245822" "03571"
"00245823" "03571"
"00245824" "03571"
"00245825" "03571"
"00245826" "03571"
"00245827" "03571"
"00245828" "03571"
"00245829" "03571"
"00245830" "03571"
"00245831" "03526"
"00245832" "03526"
"00245833" "04333"
"00245834" "00000"
"00245835" "03526"
"00245836" "03526"
"00245837" "03526"
"00245838" "03526"
"00245839" "03526"
"00245840" "03526"
"00245841" "04333"
"00245842" "04333"
"00245843" "04333"
"00293198" "00198"
"00293199" "00198"
"00293200" "00198"
"00335038" "05793"
"00380787" "03571"
"00402918" "05992"
"00433107" "05292"
"00433109" "05292"
"00433111" "05292"
"00443658" "05489"
"00461043" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00132, 00198, 00908, 03526, 03571, 04333, 05292, 05489, 05793, 05992
## Count = 16
"{{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}}"
"0000185677" "03526" "00245831" "00000" "Familial, autosomal dominant" "" "Primary lymphoedema associated with a predisposition to acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000185678" "03526" "00245832" "00000" "Familial, autosomal dominant" "" "Primary lymphoedema associated with a predisposition to acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000185679" "04333" "00245833" "00008" "Unknown" "" "coronary artery disease, association with" "" "" "" "" "" "" "" "" "" "" ""
"0000185680" "03526" "00245835" "00000" "Unknown" "" "Primary lymphoedema associated with a predisposition to acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000185681" "03526" "00245836" "00000" "Isolated (sporadic)" "" "Primary lymphoedema associated with a predisposition to acute myeloid leukemia / Sporadic? (parents not tested)" "" "" "" "" "" "" "" "" "" "" ""
"0000185682" "03526" "00245837" "00000" "Isolated (sporadic)" "" "Primary lymphoedema associated with a predisposition to acute myeloid leukemia / Sporadic? (parents not tested)" "" "" "" "" "" "" "" "" "" "" ""
"0000185683" "03526" "00245838" "00000" "Isolated (sporadic)" "" "Primary lymphoedema associated with a predisposition to acute myeloid leukemia / Sporadic? (parents not tested)" "" "" "" "" "" "" "" "" "" "" ""
"0000185684" "03526" "00245839" "00000" "Unknown" "" "Primary lymphoedema associated with a predisposition to acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000185685" "03526" "00245840" "00034" "Isolated (sporadic)" "" "Primary lymphoedema associated with a predisposition to acute myeloid leukemia / Sporadic? (parents not tested)" "" "" "" "" "" "" "" "" "" "" ""
"0000253320" "05793" "00335038" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000274640" "03571" "00380787" "00000" "Familial" "" "Hearing impairment; motor delay; lower limb edema (Immune/hematology)" "" "" "" "" "" "" "" "" "Immune deficiency" "" ""
"0000295666" "05992" "00402918" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CHAPLE" "protein-losing enteropathy, thrombosis" ""
"0000323633" "05292" "00433107" "00006" "Isolated (sporadic)" "45y" "both classic GATA2-related phenotype with disseminated warts and malignant transformation" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" ""
"0000323635" "05292" "00433109" "00006" "Isolated (sporadic)" "18y" "defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" ""
"0000323637" "05292" "00433111" "00006" "Familial, autosomal dominant" "26y" "defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" ""
"0000332959" "05489" "00443658" "04599" "Unknown" "45" "" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 44
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000246923" "00245811" "1" "00000" "00006" "2011-10-28 13:21:35" "" "" "SEQ" "DNA" "" ""
"0000246924" "00245812" "1" "00000" "00006" "2011-10-28 13:21:35" "" "" "SEQ" "DNA" "" ""
"0000246925" "00245813" "1" "00000" "00006" "2011-10-28 13:21:35" "" "" "SEQ" "DNA" "" ""
"0000246926" "00245814" "1" "00000" "00006" "2011-10-28 13:21:35" "" "" "SEQ" "DNA" "" ""
"0000246927" "00245815" "1" "00000" "00006" "2011-10-28 13:21:35" "" "" "SEQ" "DNA" "" ""
"0000246928" "00245816" "1" "00000" "00006" "2011-10-28 13:21:36" "" "" "SEQ" "DNA" "" ""
"0000246929" "00245817" "1" "00000" "00006" "2011-10-28 13:21:36" "" "" "SEQ" "DNA" "" ""
"0000246930" "00245818" "1" "00000" "00006" "2011-10-28 13:21:36" "" "" "SEQ" "DNA" "" ""
"0000246931" "00245819" "1" "00000" "00006" "2011-10-28 13:21:36" "" "" "SEQ" "DNA" "" ""
"0000246932" "00245820" "1" "00000" "00006" "2011-10-28 13:21:36" "" "" "SEQ" "DNA" "" ""
"0000246933" "00245821" "1" "00000" "00006" "2011-10-28 13:21:36" "" "" "SEQ" "DNA" "" ""
"0000246934" "00245822" "1" "00000" "00006" "2011-10-28 13:21:36" "" "" "SEQ" "DNA" "" ""
"0000246935" "00245823" "1" "00000" "00006" "2011-10-28 13:21:36" "" "" "SEQ" "DNA" "" ""
"0000246936" "00245824" "1" "00000" "00006" "2011-10-28 13:21:36" "" "" "SEQ" "DNA" "" ""
"0000246937" "00245825" "1" "00000" "00006" "2011-10-28 13:21:36" "" "" "SEQ" "DNA" "" ""
"0000246938" "00245826" "1" "00000" "00006" "2011-10-28 13:21:36" "" "" "SEQ" "DNA" "" ""
"0000246939" "00245827" "1" "00000" "00006" "2011-10-28 13:21:36" "" "" "SEQ" "DNA" "" ""
"0000246940" "00245828" "1" "00000" "00006" "2011-10-28 13:21:36" "" "" "SEQ" "DNA" "" ""
"0000246941" "00245829" "1" "00000" "00006" "2011-10-28 13:21:36" "" "" "SEQ" "DNA" "" ""
"0000246942" "00245830" "1" "00000" "00006" "2011-10-28 13:21:36" "" "" "SEQ" "DNA" "" ""
"0000246943" "00245831" "1" "00000" "00034" "2011-12-07 22:30:27" "00034" "2011-12-08 09:58:44" "SEQ-NG-I" "DNA" "" ""
"0000246944" "00245832" "1" "00000" "00034" "2011-12-07 22:04:32" "00034" "2011-12-08 09:57:49" "SEQ-NG-I" "DNA" "" ""
"0000246945" "00245833" "1" "00000" "00006" "2011-10-28 13:21:35" "" "" "SEQ" "DNA" "" ""
"0000246946" "00245834" "1" "00000" "00006" "2011-10-28 13:21:35" "" "" "SEQ" "DNA" "" ""
"0000246947" "00245835" "1" "00000" "00034" "2011-12-07 23:05:01" "00034" "2011-12-08 10:10:24" "SEQ" "DNA" "" ""
"0000246948" "00245836" "1" "00000" "00034" "2011-12-07 22:47:48" "00034" "2011-12-08 10:01:38" "SEQ-NG-I" "DNA" "" ""
"0000246949" "00245837" "1" "00000" "00034" "2011-12-07 22:55:12" "00034" "2011-12-08 10:05:21" "SEQ" "DNA" "" ""
"0000246950" "00245838" "1" "00000" "00034" "2011-12-07 22:51:32" "00034" "2011-12-08 10:03:32" "SEQ" "DNA" "" ""
"0000246951" "00245839" "1" "00000" "00034" "2011-12-07 23:03:00" "00034" "2011-12-08 10:08:40" "SEQ" "DNA" "" ""
"0000246952" "00245840" "1" "00034" "00034" "2011-12-07 22:59:18" "00034" "2011-12-08 10:06:44" "SEQ" "DNA" "" ""
"0000246953" "00245841" "1" "00000" "00006" "2011-10-28 13:21:35" "" "" "SEQ" "DNA" "" ""
"0000246954" "00245842" "1" "00000" "00006" "2011-10-28 13:21:35" "" "" "SEQ" "DNA" "" ""
"0000246955" "00245843" "1" "00000" "00006" "2011-10-28 13:21:35" "" "" "SEQ" "DNA" "" ""
"0000294366" "00293198" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000294367" "00293199" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000294368" "00293200" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000336267" "00335038" "1" "04011" "04011" "2021-03-03 06:18:02" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000382001" "00380787" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing"
"0000404159" "00402918" "1" "00006" "00006" "2022-02-14 14:33:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000434538" "00433107" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" ""
"0000434540" "00433109" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" ""
"0000434542" "00433111" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" ""
"0000445151" "00443658" "1" "04599" "04599" "2023-11-29 23:29:36" "" "" "SEQ-NG-I" "DNA" "Blood" "TruSight Cancer Sequencing Panel"
"0000462675" "00461043" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 35
"{{screeningid}}" "{{geneid}}"
"0000246923" "GATA2"
"0000246924" "GATA2"
"0000246925" "GATA2"
"0000246926" "GATA2"
"0000246927" "GATA2"
"0000246928" "GATA2"
"0000246929" "GATA2"
"0000246930" "GATA2"
"0000246931" "GATA2"
"0000246932" "GATA2"
"0000246933" "GATA2"
"0000246934" "GATA2"
"0000246935" "GATA2"
"0000246936" "GATA2"
"0000246937" "GATA2"
"0000246938" "GATA2"
"0000246939" "GATA2"
"0000246940" "GATA2"
"0000246941" "GATA2"
"0000246942" "GATA2"
"0000246943" "GATA2"
"0000246944" "GATA2"
"0000246945" "GATA2"
"0000246946" "GATA2"
"0000246947" "GATA2"
"0000246948" "GATA2"
"0000246949" "GATA2"
"0000246950" "GATA2"
"0000246951" "GATA2"
"0000246952" "GATA2"
"0000246953" "GATA2"
"0000246954" "GATA2"
"0000246955" "GATA2"
"0000445151" "GATA2"
"0000462675" "GATA2"
## 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 = 122
"{{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}}"
"0000250274" "0" "30" "3" "128200120" "128200120" "subst" "9.758E-5" "02329" "GATA2_000033" "g.128200120A>G" "" "" "" "GATA2(NM_032638.5):c.1185T>C (p.T395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128481277A>G" "" "likely benign" ""
"0000252402" "0" "70" "3" "128200681" "128200681" "subst" "0" "02326" "GATA2_000046" "g.128200681A>G" "" "" "" "GATA2(NM_001145661.1):c.1124T>C (p.L375P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128481838A>G" "" "likely pathogenic" ""
"0000277016" "0" "10" "3" "128200806" "128200806" "subst" "0.156687" "02330" "GATA2_000034" "g.128200806G>A" "" "" "" "GATA2(NM_001145661.1):c.1018-19C>T, GATA2(NM_001145661.2):c.1018-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128481963G>A" "" "benign" ""
"0000277017" "0" "10" "3" "128200072" "128200072" "subst" "0.0221392" "02330" "GATA2_000032" "g.128200072C>T" "" "" "" "GATA2(NM_001145661.1):c.1233G>A (p.(Ala411=)), GATA2(NM_001145661.2):c.1233G>A (p.A411=), GATA2(NM_032638.5):c.1233G>A (p.A411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128481229C>T" "" "benign" ""
"0000277018" "0" "50" "3" "128200041" "128200041" "subst" "0" "02330" "GATA2_000031" "g.128200041G>T" "" "" "" "GATA2(NM_001145661.2):c.1264C>A (p.Q422K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128481198G>T" "" "VUS" ""
"0000277019" "0" "10" "3" "128205860" "128205860" "subst" "0.663796" "02330" "GATA2_000045" "g.128205860G>C" "" "" "" "GATA2(NM_001145661.1):c.15C>G (p.P5=), GATA2(NM_001145661.2):c.15C>G (p.P5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128487017G>C" "" "benign" ""
"0000277020" "0" "10" "3" "128204951" "128204951" "subst" "0.197341" "02330" "GATA2_000004" "g.128204951C>T" "" "" "" "GATA2(NM_001145661.1):c.490G>A (p.A164T), GATA2(NM_001145661.2):c.490G>A (p.A164T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128486108C>T" "" "benign" ""
"0000277021" "0" "10" "3" "128204877" "128204877" "subst" "0.041077" "02330" "GATA2_000037" "g.128204877C>G" "" "" "" "GATA2(NM_001145661.1):c.564G>C (p.(Thr188=), p.T188=), GATA2(NM_001145661.2):c.564G>C (p.T188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128486034C>G" "" "benign" ""
"0000277022" "0" "10" "3" "128204731" "128204731" "subst" "0.00366786" "02330" "GATA2_000036" "g.128204731C>T" "" "" "" "GATA2(NM_001145661.2):c.710G>A (p.G237D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128485888C>T" "" "benign" ""
"0000280991" "0" "10" "3" "128205860" "128205860" "subst" "0.663796" "02325" "GATA2_000045" "g.128205860G>C" "" "" "" "GATA2(NM_001145661.1):c.15C>G (p.P5=), GATA2(NM_001145661.2):c.15C>G (p.P5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128487017G>C" "" "benign" ""
"0000280992" "0" "30" "3" "128204612" "128204612" "subst" "0.000106082" "02325" "GATA2_000035" "g.128204612T>C" "" "" "" "GATA2(NM_001145661.2):c.829A>G (p.S277G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128485769T>C" "" "likely benign" ""
"0000283343" "0" "10" "3" "128200072" "128200072" "subst" "0.0221392" "02329" "GATA2_000032" "g.128200072C>T" "" "" "" "GATA2(NM_001145661.1):c.1233G>A (p.(Ala411=)), GATA2(NM_001145661.2):c.1233G>A (p.A411=), GATA2(NM_032638.5):c.1233G>A (p.A411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128481229C>T" "" "benign" ""
"0000283344" "0" "30" "3" "128205031" "128205031" "subst" "0" "02329" "GATA2_000042" "g.128205031G>T" "" "" "" "GATA2(NM_032638.5):c.410C>A (p.P137Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128486188G>T" "" "likely benign" ""
"0000283345" "0" "30" "3" "128205027" "128205027" "subst" "0" "02329" "GATA2_000041" "g.128205027G>T" "" "" "" "GATA2(NM_032638.5):c.414C>A (p.L138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128486184G>T" "" "likely benign" ""
"0000283346" "0" "30" "3" "128204996" "128204996" "subst" "0.000125682" "02329" "GATA2_000040" "g.128204996C>T" "" "" "" "GATA2(NM_001145661.1):c.445G>A (p.G149R), GATA2(NM_001145661.2):c.445G>A (p.G149R), GATA2(NM_032638.5):c.445G>A (p.G149R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128486153C>T" "" "likely benign" ""
"0000283347" "0" "10" "3" "128204960" "128204960" "subst" "0.00819679" "02329" "GATA2_000039" "g.128204960G>C" "" "" "" "GATA2(NM_001145661.1):c.481C>G (p.P161A), GATA2(NM_001145661.2):c.481C>G (p.P161A), GATA2(NM_032638.4):c.481C>G (p.P161A), GATA2(NM_032638.5):c.481..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128486117G>C" "" "benign" ""
"0000284582" "0" "10" "3" "128200806" "128200806" "subst" "0.156687" "02326" "GATA2_000034" "g.128200806G>A" "" "" "" "GATA2(NM_001145661.1):c.1018-19C>T, GATA2(NM_001145661.2):c.1018-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128481963G>A" "" "benign" ""
"0000284583" "0" "10" "3" "128205860" "128205860" "subst" "0.663796" "02326" "GATA2_000045" "g.128205860G>C" "" "" "" "GATA2(NM_001145661.1):c.15C>G (p.P5=), GATA2(NM_001145661.2):c.15C>G (p.P5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128487017G>C" "" "benign" ""
"0000284584" "0" "10" "3" "128204960" "128204960" "subst" "0.00819679" "02326" "GATA2_000039" "g.128204960G>C" "" "" "" "GATA2(NM_001145661.1):c.481C>G (p.P161A), GATA2(NM_001145661.2):c.481C>G (p.P161A), GATA2(NM_032638.4):c.481C>G (p.P161A), GATA2(NM_032638.5):c.481..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128486117G>C" "" "benign" ""
"0000284585" "0" "10" "3" "128204951" "128204951" "subst" "0.197341" "02326" "GATA2_000004" "g.128204951C>T" "" "" "" "GATA2(NM_001145661.1):c.490G>A (p.A164T), GATA2(NM_001145661.2):c.490G>A (p.A164T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128486108C>T" "" "benign" ""
"0000284586" "0" "10" "3" "128204877" "128204877" "subst" "0.041077" "02326" "GATA2_000037" "g.128204877C>G" "" "" "" "GATA2(NM_001145661.1):c.564G>C (p.(Thr188=), p.T188=), GATA2(NM_001145661.2):c.564G>C (p.T188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128486034C>G" "" "benign" ""
"0000288220" "0" "10" "3" "128200806" "128200806" "subst" "0.156687" "01943" "GATA2_000034" "g.128200806G>A" "" "" "" "GATA2(NM_001145661.1):c.1018-19C>T, GATA2(NM_001145661.2):c.1018-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128481963G>A" "" "benign" ""
"0000288221" "0" "10" "3" "128205860" "128205860" "subst" "0.663796" "01943" "GATA2_000045" "g.128205860G>C" "" "" "" "GATA2(NM_001145661.1):c.15C>G (p.P5=), GATA2(NM_001145661.2):c.15C>G (p.P5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128487017G>C" "" "benign" ""
"0000288222" "0" "10" "3" "128204960" "128204960" "subst" "0.00819679" "01943" "GATA2_000039" "g.128204960G>C" "" "" "" "GATA2(NM_001145661.1):c.481C>G (p.P161A), GATA2(NM_001145661.2):c.481C>G (p.P161A), GATA2(NM_032638.4):c.481C>G (p.P161A), GATA2(NM_032638.5):c.481..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128486117G>C" "" "benign" ""
"0000288223" "0" "10" "3" "128204951" "128204951" "subst" "0.197341" "01943" "GATA2_000004" "g.128204951C>T" "" "" "" "GATA2(NM_001145661.1):c.490G>A (p.A164T), GATA2(NM_001145661.2):c.490G>A (p.A164T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128486108C>T" "" "benign" ""
"0000288224" "0" "50" "3" "128205798" "128205798" "subst" "0" "01943" "GATA2_000044" "g.128205798T>G" "" "" "" "GATA2(NM_001145661.1):c.77A>C (p.H26P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128486955T>G" "" "VUS" ""
"0000288225" "0" "90" "3" "128205794" "128205794" "del" "0" "01943" "GATA2_000043" "g.128205794del" "" "" "" "GATA2(NM_001145661.1):c.83delG (p.G28Afs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128486951del" "" "pathogenic" ""
"0000337099" "0" "10" "3" "128200806" "128200806" "subst" "0.156687" "02327" "GATA2_000034" "g.128200806G>A" "" "" "" "GATA2(NM_001145661.1):c.1018-19C>T, GATA2(NM_001145661.2):c.1018-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128481963G>A" "" "benign" ""
"0000340928" "0" "10" "3" "128205860" "128205860" "subst" "0.663796" "02327" "GATA2_000045" "g.128205860G>C" "" "" "" "GATA2(NM_001145661.1):c.15C>G (p.P5=), GATA2(NM_001145661.2):c.15C>G (p.P5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128487017G>C" "" "benign" ""
"0000499754" "1" "95" "3" "128204049" "128206714" "del" "0" "00000" "GATA2_000010" "g.128204049_128206714del" "" "{PMID:Hsu 2011:21670465}, {OMIM137295:0004}" "" "1-200_871+527del2033 (M1del290)" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "g.128485206_128487871del" "" "pathogenic" ""
"0000499755" "1" "95" "3" "128204049" "128206714" "del" "0" "00000" "GATA2_000010" "g.128204049_128206714del" "" "{PMID:Hsu 2011:21670465}, {OMIM137295:0004}" "" "1-200_871+527del2033" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "g.128485206_128487871del" "" "pathogenic" ""
"0000499756" "21" "77" "3" "128205211" "128205211" "dup" "0" "00000" "GATA2_000019" "g.128205211dup" "1/300" "{PMID:Ostergaard 2011:21892158}" "" "" "" "Germline" "" "" "0" "" "" "g.128486368dup" "" "likely pathogenic (dominant)" ""
"0000499757" "1" "95" "3" "128205197" "128205198" "delins" "0" "00000" "GATA2_000007" "g.128205197_128205198delinsGC" "" "{PMID:Hsu 2011:21670465}, {OMIM137295:0006}" "" "243_244delAinsGC" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "g.128486354_128486355delinsGC" "" "pathogenic" ""
"0000499758" "0" "77" "3" "128205129" "128205130" "dup" "0" "00000" "GATA2_000018" "g.128205129_128205130dup" "1/300" "{PMID:Ostergaard 2011:21892158}" "" "" "" "Germline" "" "" "0" "" "" "g.128486286_128486287dup" "" "likely pathogenic (dominant)" ""
"0000499759" "1" "55" "3" "128204951" "128204951" "subst" "0.197341" "00000" "GATA2_000004" "g.128204951C>T" "" "{PMID:Connelly 2006:16934006}" "" "490A/G" "" "Unknown" "" "" "0" "" "" "g.128486108C>T" "" "VUS" ""
"0000499760" "0" "55" "3" "128204951" "128204951" "subst" "0.197341" "00000" "GATA2_000004" "g.128204951C>T" "" "" "" "" "" "Unknown" "" "rs2335052" "0" "" "" "g.128486108C>T" "" "VUS" ""
"0000499761" "0" "77" "3" "128204862" "128204862" "dup" "0" "00000" "GATA2_000025" "g.128204862dup" "1/300" "{PMID:Ostergaard 2011:21892158}" "-" "" "" "De novo" "" "" "0" "" "" "g.128486019dup" "" "likely pathogenic (dominant)" ""
"0000499762" "1" "95" "3" "128204680" "128204680" "subst" "0" "00000" "GATA2_000015" "g.128204680G>A" "" "{PMID:Hsu 2011:21670465}, {OMIM137295:0003}" "" "751C>T" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "g.128485837G>A" "" "pathogenic" ""
"0000499763" "1" "95" "3" "0" "0" "ins" "0" "00000" "GATA2_000013" "g.?" "" "{PMID:Hsu 2011:21670465}" "" "778_779ins10" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000499764" "1" "95" "3" "0" "0" "ins" "0" "00000" "GATA2_000014" "g.?" "" "{PMID:Hsu 2011:21670465}" "" "951_952ins11" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000499765" "0" "77" "3" "128202711" "128202711" "subst" "0" "00000" "GATA2_000020" "g.128202711G>A" "1/300" "{PMID:Ostergaard 2011:21892158}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.128483868G>A" "" "likely pathogenic (dominant)" ""
"0000499766" "1" "95" "3" "128200788" "128200788" "subst" "0" "00000" "GATA2_000016" "g.128200788C>T" "" "{PMID:Hsu 2011:21670465}" "" "" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "g.128481945C>T" "" "pathogenic" ""
"0000499767" "0" "77" "3" "128200774" "128200790" "del" "0" "00000" "GATA2_000022" "g.128200774_128200790del17" "1/300" "{PMID:Ostergaard 2011:21892158}" "" "" "Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000499768" "0" "77" "3" "128200783" "128200786" "del" "0" "00000" "GATA2_000021" "g.128200783_128200786del" "1/300" "{PMID:Ostergaard 2011:21892158}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.128481940_128481943del" "" "likely pathogenic (dominant)" ""
"0000499769" "1" "95" "3" "128200744" "128200744" "subst" "0" "00000" "GATA2_000006" "g.128200744G>A" "" "{PMID:Hsu 2011:21670465}, {OMIM137295:0002}" "" "" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "g.128481901G>A" "" "pathogenic" ""
"0000499770" "1" "95" "3" "128200744" "128200744" "subst" "0" "00000" "GATA2_000006" "g.128200744G>A" "" "{PMID:Hsu 2011:21670465}, {OMIM137295:0002}" "" "" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "g.128481901G>A" "" "pathogenic" ""
"0000499771" "1" "95" "3" "128200744" "128200744" "subst" "0" "00000" "GATA2_000006" "g.128200744G>A" "" "{PMID:Hsu 2011:21670465}, {OMIM137295:0002}" "" "" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "g.128481901G>A" "" "pathogenic" ""
"0000499772" "0" "77" "3" "128200723" "128200723" "subst" "0" "00000" "GATA2_000024" "g.128200723C>A" "1/300" "{PMID:Ostergaard 2011:21892158}" "+/-" "c.1082G>C" "" "De novo" "" "" "0" "" "" "g.128481880C>A" "" "likely pathogenic (dominant)" ""
"0000499773" "1" "95" "3" "128200711" "128200722" "del" "0" "00000" "GATA2_000009" "g.128200711_128200722del" "" "{PMID:Hsu 2011:21670465}, {OMIM137295:0005}" "" "1083_1094del12" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "g.128481868_128481879del" "" "pathogenic" ""
"0000499774" "1" "95" "3" "128200692" "128200692" "subst" "0" "00000" "GATA2_000008" "g.128200692G>C" "" "{PMID:Hsu 2011:21670465}" "" "" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "g.128481849G>C" "" "pathogenic" ""
"0000499775" "0" "77" "3" "128200688" "128200688" "subst" "0" "00034" "GATA2_000023" "g.128200688A>G" "1/300" "{PMID:Ostergaard 2011:21892158}" "+" "" "" "Germline" "" "" "0" "" "" "g.128481845A>G" "" "likely pathogenic (dominant)" ""
"0000499776" "1" "55" "3" "128200459" "128200459" "subst" "0" "00000" "GATA2_000001" "g.128200459T>C" "" "{PMID:Connelly 2006:16934006}" "" "" "" "Unknown" "" "" "0" "" "" "g.128481616T>C" "" "VUS" ""
"0000499777" "0" "55" "3" "128200459" "128200459" "subst" "0" "00000" "GATA2_000001" "g.128200459T>C" "" "" "" "" "" "Unknown" "" "rs2713604" "0" "" "" "g.128481616T>C" "" "VUS" ""
"0000499778" "1" "95" "3" "128200119" "128200119" "subst" "0" "00000" "GATA2_000011" "g.128200119G>A" "" "{PMID:Hsu 2011:21670465}" "" "" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "g.128481276G>A" "" "pathogenic" ""
"0000499779" "1" "95" "3" "128200118" "128200118" "subst" "0" "00000" "GATA2_000012" "g.128200118C>T" "" "{PMID:Hsu 2011:21670465}" "" "" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "g.128481275C>T" "" "pathogenic" ""
"0000499780" "1" "95" "3" "128200113" "128200113" "subst" "0" "00000" "GATA2_000005" "g.128200113G>A" "" "{PMID:Hsu 2011:21670465}, {OMIM137295:0001}" "" "" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "g.128481270G>A" "" "pathogenic" ""
"0000499781" "1" "95" "3" "128200113" "128200113" "subst" "0" "00000" "GATA2_000005" "g.128200113G>A" "" "{PMID:Hsu 2011:21670465}, {OMIM137295:0001}" "" "" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "g.128481270G>A" "" "pathogenic" ""
"0000499782" "1" "95" "3" "128200113" "128200113" "subst" "0" "00000" "GATA2_000005" "g.128200113G>A" "" "{PMID:Hsu 2011:21670465}, {OMIM137295:0001}" "" "" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "g.128481270G>A" "" "pathogenic" ""
"0000499783" "1" "95" "3" "128200113" "128200113" "subst" "0" "00000" "GATA2_000005" "g.128200113G>A" "" "{PMID:Hsu 2011:21670465}, {OMIM137295:0001}" "" "" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "g.128481270G>A" "" "pathogenic" ""
"0000499784" "1" "95" "3" "128200113" "128200113" "subst" "0" "00000" "GATA2_000005" "g.128200113G>A" "" "{PMID:Hsu 2011:21670465}, {OMIM137295:0001}" "" "" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "g.128481270G>A" "" "pathogenic" ""
"0000499785" "1" "95" "3" "128200113" "128200113" "subst" "0" "00000" "GATA2_000005" "g.128200113G>A" "" "{PMID:Hsu 2011:21670465}, {OMIM137295:0001}" "" "" "not in 150 control chromosomes" "Unknown" "" "" "0" "" "" "g.128481270G>A" "" "pathogenic" ""
"0000499786" "1" "55" "3" "128199679" "128199679" "subst" "0" "00000" "GATA2_000003" "g.128199679G>A" "" "{PMID:Connelly 2006:16934006}" "" "" "" "Unknown" "" "" "0" "" "" "g.128480836G>A" "" "VUS" ""
"0000499787" "0" "55" "3" "128199679" "128199679" "subst" "0" "00000" "GATA2_000003" "g.128199679G>A" "" "" "" "" "" "Unknown" "" "rs45598538" "0" "" "" "g.128480836G>A" "" "VUS" ""
"0000499788" "1" "55" "3" "128199380" "128199380" "subst" "0" "00000" "GATA2_000002" "g.128199380G>A" "" "{PMID:Connelly 2006:16934006}" "" "" "" "Unknown" "" "" "0" "" "" "g.128480537G>A" "" "VUS" ""
"0000499789" "0" "55" "3" "128199380" "128199380" "subst" "0" "00000" "GATA2_000002" "g.128199380G>A" "" "" "" "" "" "Unknown" "" "rs3803" "0" "" "" "g.128480537G>A" "" "VUS" ""
"0000517771" "0" "30" "3" "128199937" "128199937" "subst" "1.63883E-5" "02330" "GATA2_000047" "g.128199937C>T" "" "" "" "GATA2(NM_001145661.2):c.1368G>A (p.P456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128481094C>T" "" "likely benign" ""
"0000517772" "0" "30" "3" "128199958" "128199958" "subst" "5.6962E-5" "01943" "GATA2_000048" "g.128199958G>T" "" "" "" "GATA2(NM_001145661.1):c.1347C>A (p.S449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128481115G>T" "" "likely benign" ""
"0000517773" "0" "30" "3" "128200643" "128200643" "subst" "7.8306E-5" "02325" "GATA2_000049" "g.128200643C>G" "" "" "" "GATA2(NM_001145661.2):c.1143+19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128481800C>G" "" "likely benign" ""
"0000517774" "0" "50" "3" "128200714" "128200714" "subst" "0" "02327" "GATA2_000050" "g.128200714G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128481871G>T" "" "VUS" ""
"0000517775" "0" "30" "3" "128200782" "128200782" "subst" "2.04489E-5" "01943" "GATA2_000051" "g.128200782G>A" "" "" "" "GATA2(NM_001145661.1):c.1023C>T (p.A341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128481939G>A" "" "likely benign" ""
"0000517776" "0" "10" "3" "128204877" "128204877" "subst" "0.041077" "02327" "GATA2_000037" "g.128204877C>G" "" "" "" "GATA2(NM_001145661.1):c.564G>C (p.(Thr188=), p.T188=), GATA2(NM_001145661.2):c.564G>C (p.T188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128486034C>G" "" "benign" ""
"0000517777" "0" "10" "3" "128204951" "128204951" "subst" "0.197341" "02327" "GATA2_000004" "g.128204951C>T" "" "" "" "GATA2(NM_001145661.1):c.490G>A (p.A164T), GATA2(NM_001145661.2):c.490G>A (p.A164T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128486108C>T" "" "benign" ""
"0000517778" "0" "10" "3" "128204960" "128204960" "subst" "0.00819679" "02330" "GATA2_000039" "g.128204960G>C" "" "" "" "GATA2(NM_001145661.1):c.481C>G (p.P161A), GATA2(NM_001145661.2):c.481C>G (p.P161A), GATA2(NM_032638.4):c.481C>G (p.P161A), GATA2(NM_032638.5):c.481..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128486117G>C" "" "benign" ""
"0000517779" "0" "10" "3" "128204960" "128204960" "subst" "0.00819679" "02327" "GATA2_000039" "g.128204960G>C" "" "" "" "GATA2(NM_001145661.1):c.481C>G (p.P161A), GATA2(NM_001145661.2):c.481C>G (p.P161A), GATA2(NM_032638.4):c.481C>G (p.P161A), GATA2(NM_032638.5):c.481..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128486117G>C" "" "benign" ""
"0000517780" "0" "30" "3" "128204996" "128204996" "subst" "0.000125682" "02330" "GATA2_000040" "g.128204996C>T" "" "" "" "GATA2(NM_001145661.1):c.445G>A (p.G149R), GATA2(NM_001145661.2):c.445G>A (p.G149R), GATA2(NM_032638.5):c.445G>A (p.G149R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128486153C>T" "" "likely benign" ""
"0000517781" "0" "50" "3" "128204996" "128204996" "subst" "0.000125682" "01943" "GATA2_000040" "g.128204996C>T" "" "" "" "GATA2(NM_001145661.1):c.445G>A (p.G149R), GATA2(NM_001145661.2):c.445G>A (p.G149R), GATA2(NM_032638.5):c.445G>A (p.G149R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128486153C>T" "" "VUS" ""
"0000517783" "0" "50" "3" "128205845" "128205845" "subst" "8.64674E-5" "01943" "GATA2_000053" "g.128205845C>A" "" "" "" "GATA2(NM_001145661.1):c.30G>T (p.W10C), GATA2(NM_032638.4):c.30G>T (p.(Trp10Cys)), GATA2(NM_032638.5):c.30G>T (p.W10C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128487002C>A" "" "VUS" ""
"0000517784" "0" "30" "3" "128211729" "128211729" "subst" "0" "02326" "GATA2_000054" "g.128211729G>A" "" "" "" "GATA2(NM_032638.4):c.-46+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128492886G>A" "" "likely benign" ""
"0000608292" "0" "50" "3" "128200139" "128200141" "del" "0" "01943" "GATA2_000055" "g.128200139_128200141del" "" "" "" "GATA2(NM_001145661.1):c.1168_1170delAAG (p.K390del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128481296_128481298del" "" "VUS" ""
"0000608293" "0" "90" "3" "128200709" "128200709" "dup" "0" "01943" "GATA2_000056" "g.128200709dup" "" "" "" "GATA2(NM_001145661.1):c.1099dupG (p.D367Gfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128481866dup" "" "pathogenic" ""
"0000621166" "0" "50" "3" "128205754" "128205754" "subst" "0.000637224" "01943" "GATA2_000057" "g.128205754G>C" "" "" "" "GATA2(NM_001145661.1):c.121C>G (p.P41A), GATA2(NM_032638.5):c.121C>G (p.P41A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128486911G>C" "" "VUS" ""
"0000651055" "1" "30" "3" "128199147" "128199147" "subst" "0" "03575" "GATA2_000058" "g.128199147C>T" "36/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "36 heterozygous, no homozygous; {DB:CLININrs73203415}" "Germline" "" "rs73203415" "0" "" "" "g.128480304C>T" "" "likely benign" ""
"0000651056" "1" "30" "3" "128199452" "128199452" "subst" "0" "03575" "GATA2_000059" "g.128199452G>A" "9/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs45479594}" "Germline" "" "rs45479594" "0" "" "" "g.128480609G>A" "" "likely benign" ""
"0000651057" "1" "30" "3" "128204693" "128204693" "subst" "0.00485354" "03575" "GATA2_000060" "g.128204693G>C" "13/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs78245253}" "Germline" "" "rs78245253" "0" "" "" "g.128485850G>C" "" "likely benign" ""
"0000654790" "0" "30" "3" "128200659" "128200659" "subst" "0" "01943" "GATA2_000061" "g.128200659C>G" "" "" "" "GATA2(NM_001145661.1):c.1143+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128481816C>G" "" "likely benign" ""
"0000654791" "0" "30" "3" "128204877" "128204877" "subst" "0.041077" "01804" "GATA2_000037" "g.128204877C>G" "" "" "" "GATA2(NM_001145661.1):c.564G>C (p.(Thr188=), p.T188=), GATA2(NM_001145661.2):c.564G>C (p.T188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128486034C>G" "" "likely benign" ""
"0000719171" "0" "10" "3" "128200072" "128200072" "subst" "0.0221392" "01804" "GATA2_000032" "g.128200072C>T" "" "" "" "GATA2(NM_001145661.1):c.1233G>A (p.(Ala411=)), GATA2(NM_001145661.2):c.1233G>A (p.A411=), GATA2(NM_032638.5):c.1233G>A (p.A411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000719172" "0" "50" "3" "128204667" "128204684" "del" "0" "02327" "GATA2_000062" "g.128204667_128204684del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000719173" "0" "50" "3" "128205754" "128205754" "subst" "0.000637224" "02327" "GATA2_000057" "g.128205754G>C" "" "" "" "GATA2(NM_001145661.1):c.121C>G (p.P41A), GATA2(NM_032638.5):c.121C>G (p.P41A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000735518" "0" "70" "3" "128200019" "128200019" "subst" "6.9035E-5" "04011" "GATA2_000063" "g.128200019C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000795635" "0" "70" "3" "128200770" "128200774" "dup" "0" "00000" "GATA2_000064" "g.128200770_128200774dup" "" "{PMID:Nair 2018:30293248}" "" "different transcript: NM_032638.4:c.1032_1036dup; p.Gly346Glufs" "" "Unknown" "?" "" "0" "" "" "g.128481927_128481931dup" "" "likely pathogenic" ""
"0000839894" "3" "50" "3" "128205109" "128205111" "del" "0" "00006" "GATA2_000065" "g.128205109_128205111del" "" "{PMID:Ozen 2017:28657829}" "" "" "" "Germline" "" "" "0" "" "" "g.128486266_128486268del" "" "VUS" ""
"0000850122" "0" "30" "3" "128199889" "128199889" "subst" "0.000292826" "01943" "GATA2_000066" "g.128199889C>T" "" "" "" "GATA2(NM_001145661.1):c.1416G>A (p.P472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000850123" "0" "30" "3" "128205752" "128205752" "subst" "0" "01943" "GATA2_000068" "g.128205752A>T" "" "" "" "GATA2(NM_001145661.1):c.123T>A (p.P41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000850124" "0" "50" "3" "128211741" "128211741" "subst" "0" "01943" "GATA2_000069" "g.128211741C>T" "" "" "" "GATA2(NM_032638.4):c.-46+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000858792" "0" "30" "3" "128199958" "128199958" "subst" "8.13742E-6" "02326" "GATA2_000067" "g.128199958G>A" "" "" "" "GATA2(NM_032638.4):c.1347C>T (p.S449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000885537" "0" "30" "3" "128204996" "128204996" "subst" "0.000125682" "02325" "GATA2_000040" "g.128204996C>T" "" "" "" "GATA2(NM_001145661.1):c.445G>A (p.G149R), GATA2(NM_001145661.2):c.445G>A (p.G149R), GATA2(NM_032638.5):c.445G>A (p.G149R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000885538" "0" "50" "3" "128205083" "128205083" "subst" "1.25824E-5" "02329" "GATA2_000070" "g.128205083G>A" "" "" "" "GATA2(NM_032638.5):c.358C>T (p.(Pro120Ser), p.P120S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000885539" "0" "50" "3" "128205754" "128205754" "subst" "0.000637224" "02325" "GATA2_000057" "g.128205754G>C" "" "" "" "GATA2(NM_001145661.1):c.121C>G (p.P41A), GATA2(NM_032638.5):c.121C>G (p.P41A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000911824" "0" "30" "3" "128205018" "128205018" "subst" "0" "02325" "GATA2_000071" "g.128205018G>A" "" "" "" "GATA2(NM_032638.5):c.423C>T (p.Y141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000920292" "1" "70" "3" "128200657" "128200657" "subst" "0" "00006" "GATA2_000072" "g.128200657C>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.128481814C>T" "" "likely pathogenic" "ACMG"
"0000920294" "1" "90" "3" "128200744" "128200744" "subst" "0" "00006" "GATA2_000006" "g.128200744G>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.128481901G>A" "" "pathogenic" "ACMG"
"0000920295" "1" "70" "3" "128200727" "128200727" "subst" "0" "00006" "GATA2_000073" "g.128200727A>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "yes" "" "0" "" "" "g.128481884A>T" "" "likely pathogenic" "ACMG"
"0000923828" "0" "90" "3" "128200723" "128200723" "subst" "0" "02327" "GATA2_000074" "g.128200723C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000923829" "0" "30" "3" "128204654" "128204654" "subst" "0" "02326" "GATA2_000075" "g.128204654C>T" "" "" "" "GATA2(NM_032638.4):c.787G>A (p.G263R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000923830" "0" "50" "3" "128204816" "128204816" "subst" "4.06293E-6" "02329" "GATA2_000076" "g.128204816C>T" "" "" "" "GATA2(NM_032638.5):c.625G>A (p.D209N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000923831" "0" "30" "3" "128205028" "128205028" "subst" "4.38064E-5" "02326" "GATA2_000077" "g.128205028A>G" "" "" "" "GATA2(NM_032638.4):c.413T>C (p.L138P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000923832" "0" "50" "3" "128205845" "128205845" "subst" "8.64674E-5" "02329" "GATA2_000053" "g.128205845C>A" "" "" "" "GATA2(NM_001145661.1):c.30G>T (p.W10C), GATA2(NM_032638.4):c.30G>T (p.(Trp10Cys)), GATA2(NM_032638.5):c.30G>T (p.W10C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000928699" "0" "50" "3" "128205139" "128205139" "subst" "0" "02325" "GATA2_000078" "g.128205139C>T" "" "" "" "GATA2(NM_032638.5):c.302G>A (p.G101D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000948015" "0" "90" "3" "128200720" "128200720" "subst" "0" "02327" "GATA2_000080" "g.128200720C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000948016" "0" "30" "3" "128205221" "128205224" "del" "0" "02326" "GATA2_000081" "g.128205221_128205224del" "" "" "" "GATA2(NM_032638.4):c.230-12_230-9delCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000952048" "0" "90" "3" "128205817" "128205817" "subst" "0" "04599" "GATA2_000079" "g.128205817G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000975554" "0" "30" "3" "128204734" "128204734" "subst" "1.21962E-5" "01804" "GATA2_000082" "g.128204734A>G" "" "" "" "GATA2(NM_032638.4):c.707T>C (p.(Met236Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000975555" "0" "30" "3" "128204960" "128204960" "subst" "0.00819679" "01804" "GATA2_000039" "g.128204960G>C" "" "" "" "GATA2(NM_001145661.1):c.481C>G (p.P161A), GATA2(NM_001145661.2):c.481C>G (p.P161A), GATA2(NM_032638.4):c.481C>G (p.P161A), GATA2(NM_032638.5):c.481..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000993260" "0" "70" "3" "128200156" "128200156" "del" "0" "01804" "GATA2_000083" "g.128200156del" "" "" "" "GATA2(NM_032638.4):c.1149delC (p.(Asn383fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000993261" "0" "90" "3" "128200657" "128200657" "subst" "0" "01804" "GATA2_000072" "g.128200657C>T" "" "" "" "GATA2(NM_032638.4):c.1143+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000993262" "0" "50" "3" "128200741" "128200741" "subst" "0" "01804" "GATA2_000084" "g.128200741G>T" "" "" "" "GATA2(NM_032638.4):c.1064C>A (p.(Thr355Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000993263" "0" "50" "3" "128205845" "128205845" "subst" "8.64674E-5" "01804" "GATA2_000053" "g.128205845C>A" "" "" "" "GATA2(NM_001145661.1):c.30G>T (p.W10C), GATA2(NM_032638.4):c.30G>T (p.(Trp10Cys)), GATA2(NM_032638.5):c.30G>T (p.W10C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001013812" "0" "30" "3" "128205108" "128205108" "subst" "0.000461004" "02329" "GATA2_000085" "g.128205108G>A" "" "" "" "GATA2(NM_032638.5):c.333C>T (p.H111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001013813" "0" "30" "3" "128205809" "128205809" "subst" "0.000582824" "02329" "GATA2_000086" "g.128205809G>C" "" "" "" "GATA2(NM_032638.5):c.66C>G (p.P22=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001022202" "0" "70" "3" "128200657" "128200657" "subst" "0" "04796" "GATA2_000072" "g.128200657C>T" "" "" "" "" "multiple effects on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.128481814C>T" "" "likely pathogenic" ""
"0001033657" "0" "50" "3" "128205083" "128205083" "subst" "1.25824E-5" "01804" "GATA2_000070" "g.128205083G>A" "" "" "" "GATA2(NM_032638.5):c.358C>T (p.(Pro120Ser), p.P120S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes GATA2
## Count = 122
"{{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}}"
"0000250274" "00024202" "30" "1185" "0" "1185" "0" "c.1185T>C" "r.(?)" "p.(Thr395=)" ""
"0000252402" "00024202" "70" "1124" "0" "1124" "0" "c.1124T>C" "r.(?)" "p.(Leu375Pro)" ""
"0000277016" "00024202" "10" "1018" "-19" "1018" "-19" "c.1018-19C>T" "r.(=)" "p.(=)" ""
"0000277017" "00024202" "10" "1233" "0" "1233" "0" "c.1233G>A" "r.(?)" "p.(Ala411=)" ""
"0000277018" "00024202" "50" "1264" "0" "1264" "0" "c.1264C>A" "r.(?)" "p.(Gln422Lys)" ""
"0000277019" "00024202" "10" "15" "0" "15" "0" "c.15C>G" "r.(?)" "p.(Pro5=)" ""
"0000277020" "00024202" "10" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Ala164Thr)" ""
"0000277021" "00024202" "10" "564" "0" "564" "0" "c.564G>C" "r.(?)" "p.(Thr188=)" ""
"0000277022" "00024202" "10" "710" "0" "710" "0" "c.710G>A" "r.(?)" "p.(Gly237Asp)" ""
"0000280991" "00024202" "10" "15" "0" "15" "0" "c.15C>G" "r.(?)" "p.(Pro5=)" ""
"0000280992" "00024202" "30" "829" "0" "829" "0" "c.829A>G" "r.(?)" "p.(Ser277Gly)" ""
"0000283343" "00024202" "10" "1233" "0" "1233" "0" "c.1233G>A" "r.(?)" "p.(Ala411=)" ""
"0000283344" "00024202" "30" "410" "0" "410" "0" "c.410C>A" "r.(?)" "p.(Pro137Gln)" ""
"0000283345" "00024202" "30" "414" "0" "414" "0" "c.414C>A" "r.(?)" "p.(Leu138=)" ""
"0000283346" "00024202" "30" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Gly149Arg)" ""
"0000283347" "00024202" "10" "481" "0" "481" "0" "c.481C>G" "r.(?)" "p.(Pro161Ala)" ""
"0000284582" "00024202" "10" "1018" "-19" "1018" "-19" "c.1018-19C>T" "r.(=)" "p.(=)" ""
"0000284583" "00024202" "10" "15" "0" "15" "0" "c.15C>G" "r.(?)" "p.(Pro5=)" ""
"0000284584" "00024202" "10" "481" "0" "481" "0" "c.481C>G" "r.(?)" "p.(Pro161Ala)" ""
"0000284585" "00024202" "10" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Ala164Thr)" ""
"0000284586" "00024202" "10" "564" "0" "564" "0" "c.564G>C" "r.(?)" "p.(Thr188=)" ""
"0000288220" "00024202" "10" "1018" "-19" "1018" "-19" "c.1018-19C>T" "r.(=)" "p.(=)" ""
"0000288221" "00024202" "10" "15" "0" "15" "0" "c.15C>G" "r.(?)" "p.(Pro5=)" ""
"0000288222" "00024202" "10" "481" "0" "481" "0" "c.481C>G" "r.(?)" "p.(Pro161Ala)" ""
"0000288223" "00024202" "10" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Ala164Thr)" ""
"0000288224" "00024202" "50" "77" "0" "77" "0" "c.77A>C" "r.(?)" "p.(His26Pro)" ""
"0000288225" "00024202" "90" "83" "0" "83" "0" "c.83del" "r.(?)" "p.(Gly28AlafsTer52)" ""
"0000337099" "00024202" "10" "1018" "-19" "1018" "-19" "c.1018-19C>T" "r.(=)" "p.(=)" ""
"0000340928" "00024202" "10" "15" "0" "15" "0" "c.15C>G" "r.(?)" "p.(Pro5=)" ""
"0000499754" "00024202" "95" "-200" "0" "871" "527" "c.-200_871+527del" "r.spl?" "p.(0)" "2"
"0000499755" "00024202" "95" "-200" "0" "871" "527" "c.-200_871+527del" "r.spl?" "p.(0)" "2"
"0000499756" "00024202" "77" "232" "0" "232" "0" "c.232dup" "r.(?)" "p.(Arg78Profs*107)" "4"
"0000499757" "00024202" "95" "243" "0" "244" "0" "c.243_244delinsGC" "r.(?)" "p.(Gly81fs*)" "4"
"0000499758" "00024202" "77" "312" "0" "313" "0" "c.312_313dup" "r.(?)" "p.(Leu105Profs*15)" "4"
"0000499759" "00024202" "55" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Ala164Thr)" "4"
"0000499760" "00024202" "55" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Ala164Thr)" "4"
"0000499761" "00024202" "77" "579" "0" "579" "0" "c.579dup" "r.(?)" "p.(Ala194Serfs*8)" "4"
"0000499762" "00024202" "95" "761" "0" "761" "0" "c.761C>T" "r.(?)" "p.(Pro254Leu)" "4"
"0000499763" "00024202" "95" "778" "0" "779" "0" "c.778_779ins10" "r.?" "p.(Asp259fs*)" "4"
"0000499764" "00024202" "95" "951" "0" "952" "0" "c.951_952ins11" "r.?" "p.(Asn317fs*)" "5"
"0000499765" "00024202" "77" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "5"
"0000499766" "00024202" "95" "1018" "-1" "1018" "-1" "c.1018-1G>A" "r.spl?" "p.(Ser340_Asn381del)" "5i"
"0000499767" "00024202" "77" "1018" "-3" "1031" "0" "c.1018-3_1031del17" "r.?" "p.(Ala341Argfs*38)" "6"
"0000499768" "00024202" "77" "1021" "0" "1024" "0" "c.1021_1024del" "r.(?)" "p.(Ala341Profs*45)" "6"
"0000499769" "00024202" "95" "1061" "0" "1061" "0" "c.1061C>T" "r.(?)" "p.(Trp354Met)" "6"
"0000499770" "00024202" "95" "1061" "0" "1061" "0" "c.1061C>T" "r.(?)" "p.(Thr354Met)" "6"
"0000499771" "00024202" "95" "1061" "0" "1061" "0" "c.1061C>T" "r.(?)" "p.(Thr354Met)" "6"
"0000499772" "00024202" "77" "1082" "0" "1082" "0" "c.1082G>T" "r.(?)" "p.(Arg361Leu)" "6"
"0000499773" "00024202" "95" "1084" "0" "1095" "0" "c.1084_1095del" "r.(?)" "p.(Arg362_Asn365del)" "6"
"0000499774" "00024202" "95" "1113" "0" "1113" "0" "c.1113C>G" "r.(?)" "p.(Asn371Lys)" "6"
"0000499775" "00024202" "77" "1117" "0" "1117" "0" "c.1117T>C" "r.(?)" "p.(Cys373Arg)" "6"
"0000499776" "00024202" "55" "1143" "203" "1143" "203" "c.1143+203A>G" "r.(=)" "p.(=)" "6i"
"0000499777" "00024202" "55" "1143" "203" "1143" "203" "c.1143+203A>G" "r.(=)" "p.(=)" "6i"
"0000499778" "00024202" "95" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396Trp)" "7"
"0000499779" "00024202" "95" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Arg396Gln)" "7"
"0000499780" "00024202" "95" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Trp)" "7"
"0000499781" "00024202" "95" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Trp)" "7"
"0000499782" "00024202" "95" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Trp)" "7"
"0000499783" "00024202" "95" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Trp)" "7"
"0000499784" "00024202" "95" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Trp)" "7"
"0000499785" "00024202" "95" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Trp)" "7"
"0000499786" "00024202" "55" "1626" "0" "1626" "0" "c.*183C>T" "r.(=)" "p.(=)" "7"
"0000499787" "00024202" "55" "1626" "0" "1626" "0" "c.*183C>T" "r.(=)" "p.(=)" "7"
"0000499788" "00024202" "55" "1925" "0" "1925" "0" "c.*482C>T" "r.(=)" "p.(=)" "7"
"0000499789" "00024202" "55" "1925" "0" "1925" "0" "c.*482C>T" "r.(=)" "p.(=)" "7"
"0000517771" "00024202" "30" "1368" "0" "1368" "0" "c.1368G>A" "r.(?)" "p.(Pro456=)" ""
"0000517772" "00024202" "30" "1347" "0" "1347" "0" "c.1347C>A" "r.(?)" "p.(Ser449=)" ""
"0000517773" "00024202" "30" "1143" "19" "1143" "19" "c.1143+19G>C" "r.(=)" "p.(=)" ""
"0000517774" "00024202" "50" "1091" "0" "1091" "0" "c.1091C>A" "r.(?)" "p.(Ala364Asp)" ""
"0000517775" "00024202" "30" "1023" "0" "1023" "0" "c.1023C>T" "r.(?)" "p.(Ala341=)" ""
"0000517776" "00024202" "10" "564" "0" "564" "0" "c.564G>C" "r.(?)" "p.(Thr188=)" ""
"0000517777" "00024202" "10" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Ala164Thr)" ""
"0000517778" "00024202" "10" "481" "0" "481" "0" "c.481C>G" "r.(?)" "p.(Pro161Ala)" ""
"0000517779" "00024202" "10" "481" "0" "481" "0" "c.481C>G" "r.(?)" "p.(Pro161Ala)" ""
"0000517780" "00024202" "30" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Gly149Arg)" ""
"0000517781" "00024202" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Gly149Arg)" ""
"0000517783" "00024202" "50" "30" "0" "30" "0" "c.30G>T" "r.(?)" "p.(Trp10Cys)" ""
"0000517784" "00024202" "30" "-4791" "0" "-4791" "0" "c.-4791C>T" "r.(?)" "p.(=)" ""
"0000608292" "00024202" "50" "1168" "0" "1170" "0" "c.1168_1170del" "r.(?)" "p.(Lys390del)" ""
"0000608293" "00024202" "90" "1099" "0" "1099" "0" "c.1099dup" "r.(?)" "p.(Asp367GlyfsTer17)" ""
"0000621166" "00024202" "50" "121" "0" "121" "0" "c.121C>G" "r.(?)" "p.(Pro41Ala)" ""
"0000651055" "00024202" "30" "2158" "0" "2158" "0" "c.*715G>A" "r.(=)" "p.(=)" ""
"0000651056" "00024202" "30" "1853" "0" "1853" "0" "c.*410C>T" "r.(=)" "p.(=)" ""
"0000651057" "00024202" "30" "748" "0" "748" "0" "c.748C>G" "r.(?)" "p.(Pro250Ala)" ""
"0000654790" "00024202" "30" "1143" "3" "1143" "3" "c.1143+3G>C" "r.spl?" "p.?" ""
"0000654791" "00024202" "30" "564" "0" "564" "0" "c.564G>C" "r.(?)" "p.(Thr188=)" ""
"0000719171" "00024202" "10" "1233" "0" "1233" "0" "c.1233G>A" "r.(?)" "p.(Ala411=)" ""
"0000719172" "00024202" "50" "758" "0" "775" "0" "c.758_775del" "r.(?)" "p.(Val253_His258del)" ""
"0000719173" "00024202" "50" "121" "0" "121" "0" "c.121C>G" "r.(?)" "p.(Pro41Ala)" ""
"0000735518" "00024202" "50" "1286" "0" "1286" "0" "c.1286G>C" "r.(?)" "p.(Ser429Thr)" ""
"0000795635" "00024202" "70" "1032" "0" "1036" "0" "c.1032_1036dup" "r.(?)" "p.(Gly346Glufs*43)" ""
"0000839894" "00024202" "50" "337" "0" "339" "0" "c.337_339del" "r.(?)" "p.(His113del)" ""
"0000850122" "00024202" "30" "1416" "0" "1416" "0" "c.1416G>A" "r.(?)" "p.(Pro472=)" ""
"0000850123" "00024202" "30" "123" "0" "123" "0" "c.123T>A" "r.(?)" "p.(Pro41=)" ""
"0000850124" "00024202" "50" "-4803" "0" "-4803" "0" "c.-4803G>A" "r.(?)" "p.(=)" ""
"0000858792" "00024202" "30" "1347" "0" "1347" "0" "c.1347C>T" "r.(?)" "p.(Ser449=)" ""
"0000885537" "00024202" "30" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Gly149Arg)" ""
"0000885538" "00024202" "50" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Pro120Ser)" ""
"0000885539" "00024202" "50" "121" "0" "121" "0" "c.121C>G" "r.(?)" "p.(Pro41Ala)" ""
"0000911824" "00024202" "30" "423" "0" "423" "0" "c.423C>T" "r.(?)" "p.(Tyr141=)" ""
"0000920292" "00024202" "70" "1143" "5" "1143" "5" "c.1143+5G>A" "r.[=,1143_1144ins[gugaa;1143+6_1143+64]]" "p.[=,Asn381fs]" "7ai"
"0000920294" "00024202" "90" "1061" "0" "1061" "0" "c.1061C>T" "r.(?)" "p.(Thr354Met)" "6"
"0000920295" "00024202" "70" "1078" "0" "1078" "0" "c.1078T>A" "r.(?)" "p.(Trp360Arg)" "7a"
"0000923828" "00024202" "90" "1082" "0" "1082" "0" "c.1082G>A" "r.(?)" "p.(Arg361His)" ""
"0000923829" "00024202" "30" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Gly263Arg)" ""
"0000923830" "00024202" "50" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Asp209Asn)" ""
"0000923831" "00024202" "30" "413" "0" "413" "0" "c.413T>C" "r.(?)" "p.(Leu138Pro)" ""
"0000923832" "00024202" "50" "30" "0" "30" "0" "c.30G>T" "r.(?)" "p.(Trp10Cys)" ""
"0000928699" "00024202" "50" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Gly101Asp)" ""
"0000948015" "00024202" "90" "1085" "0" "1085" "0" "c.1085G>A" "r.(?)" "p.(Arg362Gln)" ""
"0000948016" "00024202" "30" "230" "-12" "230" "-9" "c.230-12_230-9del" "r.(=)" "p.(=)" ""
"0000952048" "00024202" "90" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Gln20*)" ""
"0000975554" "00024202" "30" "707" "0" "707" "0" "c.707T>C" "r.(?)" "p.(Met236Thr)" ""
"0000975555" "00024202" "30" "481" "0" "481" "0" "c.481C>G" "r.(?)" "p.(Pro161Ala)" ""
"0000993260" "00024202" "70" "1149" "0" "1149" "0" "c.1149del" "r.(?)" "p.(Asn383Lysfs*4)" ""
"0000993261" "00024202" "90" "1143" "5" "1143" "5" "c.1143+5G>A" "r.spl?" "p.?" ""
"0000993262" "00024202" "50" "1064" "0" "1064" "0" "c.1064C>A" "r.(?)" "p.(Thr355Lys)" ""
"0000993263" "00024202" "50" "30" "0" "30" "0" "c.30G>T" "r.(?)" "p.(Trp10Cys)" ""
"0001013812" "00024202" "30" "333" "0" "333" "0" "c.333C>T" "r.(?)" "p.(=)" ""
"0001013813" "00024202" "30" "66" "0" "66" "0" "c.66C>G" "r.(?)" "p.(=)" ""
"0001022202" "00024202" "70" "1143" "5" "1143" "5" "c.1143+5G>A" "r.[1018_1143del,1143_1144ins[GtGAA;1143+6_1143+64],=]" "p.[Ser340_Asn381del,Asn383SerfsTer21,=]" "5i"
"0001033657" "00024202" "50" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Pro120Ser)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 47
"{{screeningid}}" "{{variantid}}"
"0000246923" "0000499780"
"0000246924" "0000499781"
"0000246925" "0000499782"
"0000246926" "0000499783"
"0000246927" "0000499769"
"0000246928" "0000499757"
"0000246929" "0000499784"
"0000246930" "0000499774"
"0000246931" "0000499773"
"0000246932" "0000499754"
"0000246933" "0000499755"
"0000246934" "0000499778"
"0000246935" "0000499770"
"0000246936" "0000499779"
"0000246937" "0000499771"
"0000246938" "0000499763"
"0000246939" "0000499785"
"0000246940" "0000499764"
"0000246941" "0000499762"
"0000246942" "0000499766"
"0000246943" "0000499756"
"0000246944" "0000499758"
"0000246945" "0000499759"
"0000246946" "0000499760"
"0000246946" "0000499777"
"0000246946" "0000499787"
"0000246946" "0000499789"
"0000246947" "0000499761"
"0000246948" "0000499765"
"0000246949" "0000499767"
"0000246950" "0000499768"
"0000246951" "0000499772"
"0000246952" "0000499775"
"0000246953" "0000499776"
"0000246954" "0000499786"
"0000246955" "0000499788"
"0000294366" "0000651055"
"0000294367" "0000651056"
"0000294368" "0000651057"
"0000336267" "0000735518"
"0000382001" "0000795635"
"0000404159" "0000839894"
"0000434538" "0000920292"
"0000434540" "0000920294"
"0000434542" "0000920295"
"0000445151" "0000952048"
"0000462675" "0001022202"