### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IFIH1) # 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}}" "IFIH1" "interferon induced with helicase C domain 1" "2" "q24.2" "unknown" "NG_011495.1" "UD_134408219561" "" "http://www.LOVD.nl/IFIH1" "" "1" "18873" "64135" "606951" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/IFIH1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-06-10 11:06:09" "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}}" "00009811" "IFIH1" "interferon induced with helicase C domain 1" "001" "NM_022168.3" "" "NP_071451.2" "" "" "" "-401" "3199" "3078" "163175218" "163123589" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04103" "AGS7" "Aicardi-Goutieres syndrome, type 7 (AGS7)" "AD" "615846" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-06-10 11:05:47" "04195" "SGMRT1" "Singleton-Merten syndrome, type 1 (SGMRT-1)" "AD" "182250" "" "" "" "00006" "2015-02-15 21:43:59" "00006" "2021-12-10 21:51:32" "05129" "AGS" "Aicardi-Goutieres syndrome (AGS)" "" "" "" "" "" "00006" "2016-02-03 07:50:41" "" "" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05312" "SGMRT" "Singleton-Merten syndrome (SGMRT)" "" "" "" "" "" "00006" "2017-07-28 09:32:18" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "IFIH1" "04103" "IFIH1" "04195" "IFIH1" "05129" "IFIH1" "05312" ## Individuals ## Do not remove or alter this header ## ## Count = 40 "{{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}}" "00032346" "" "" "" "17" "" "00006" "{PMID:Rutsch 2015:25620204}, {DOI:Rutsch 2015:10.1016/j.ajhg.2014.12.014}" "5-generation family, 17 affecteds (8F, 9M)" "" "" "" "" "0" "" "" "" "" "00032347" "" "" "" "3" "" "00006" "{PMID:Rutsch 2015:25620204}, {DOI:Rutsch 2015:10.1016/j.ajhg.2014.12.014}" "2-generation family, 3 affecteds (1F, 2M)" "" "no" "" "" "0" "" "" "" "" "00032348" "" "" "" "1" "" "00006" "{PMID:Rutsch 2015:25620204}, {DOI:Rutsch 2015:10.1016/j.ajhg.2014.12.014}" "2-generation family, 1 affected" "F" "no" "" "" "0" "" "" "" "" "00050357" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "uninherited diplotypes" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050358" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "uninherited diplotypes" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050359" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "uninherited diplotypes" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00111407" "" "" "" "1" "" "00729" "{PMID:Popp 2017:29158550}, {DOI:Popp 2017:10.1038/s41431-017-0022-1}" "" "M" "no" "" "" "0" "" "" "" "S_007" "00155022" "" "" "" "1" "" "02403" "" "" "" "" "" "" "0" "" "" "" "" "00292300" "" "" "" "51" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292301" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292302" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304705" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00334290" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334303" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334319" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334349" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334350" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334364" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334404" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334478" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334498" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334499" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334525" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334858" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334929" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335013" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335019" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335041" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00358883" "" "" "" "1" "" "03566" "" "" "" "" "" "" "" "" "" "" "IFIH1" "00374237" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4086" "00374759" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2047" "00374760" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-84" "00374761" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4716" "00374762" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3729" "00375514" "" "" "" "1" "" "01411" "{PMID:Hasegawa 2022:34453469}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Japan" "" "0" "" "" "" "patient" "00428067" "" "" "" "1" "" "00006" "{PMID:Paul 2023:36528028}, {DOI:Paul 2023:10.1016/j.ajhg.2022.11.011}" "2-generation family, 1 affected, unaffected non carrier parents, older sister with simple febrile seizures, otherwise healthy" "M" "" "United States" "" "0" "" "" "Europe" "Pat6" "00433099" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "United States" "" "0" "" "" "Europe" "Pat75,1" "00442669" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat41" "00449735" "" "" "" "1" "" "03544" "" "" "F" "?" "- (not applicable)" "" "" "" "" "" "" "00453418" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 41 "{{individualid}}" "{{diseaseid}}" "00032346" "04195" "00032347" "04195" "00032348" "04195" "00050357" "00198" "00050358" "00198" "00050359" "00198" "00111407" "04103" "00155022" "04103" "00292300" "00198" "00292301" "00198" "00292302" "00198" "00304705" "00198" "00334290" "05793" "00334303" "05793" "00334319" "05793" "00334349" "05793" "00334350" "05793" "00334364" "05793" "00334404" "05793" "00334478" "05793" "00334498" "05793" "00334499" "05793" "00334525" "05793" "00334858" "05793" "00334929" "05793" "00335013" "05793" "00335019" "05793" "00335041" "05793" "00358883" "00198" "00374237" "00198" "00374759" "00198" "00374760" "00198" "00374761" "00198" "00374762" "00198" "00375514" "04103" "00375514" "05129" "00428067" "05611" "00433099" "05292" "00442669" "05618" "00449735" "00139" "00453418" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04103, 04195, 05129, 05292, 05312, 05611, 05618, 05793 ## Count = 36 "{{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}}" "0000025812" "04195" "00032346" "00006" "Familial, autosomal dominant" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "0000025813" "04195" "00032347" "00006" "Familial, autosomal dominant" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "0000025814" "04195" "00032348" "00006" "Isolated (sporadic)" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "0000036969" "00198" "00050357" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000036970" "00198" "00050358" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000036971" "00198" "00050359" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000087492" "04103" "00111407" "00729" "Familial, autosomal dominant" "" "Initially normal development, regression, severe ID, spasticity, scoliosis, episodic icterus and skin swelling" "" "" "" "" "" "" "" "" "" "" "" "0000127742" "04103" "00155022" "02403" "Familial, autosomal dominant" "" "Spasticity and intracranial calcification" "" "" "Spasticity and intracranial calcification" "" "" "" "" "" "" "" "" "0000253100" "05793" "00334290" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253113" "05793" "00334303" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253129" "05793" "00334319" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253144" "05793" "00334349" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253145" "05793" "00334350" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253159" "05793" "00334364" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253187" "05793" "00334404" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253191" "05793" "00334478" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253211" "05793" "00334498" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253212" "05793" "00334499" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253219" "05793" "00334525" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253255" "05793" "00334858" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253278" "05793" "00334929" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253295" "05793" "00335013" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253301" "05793" "00335019" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253323" "05793" "00335041" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000254142" "00198" "00358883" "03566" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000269447" "00198" "00374237" "00006" "Familial, autosomal recessive" "" "Global developmental delay, microcephaly, spastic quadriparesis and failure to thrive, suspected of West syndrome" "" "" "" "" "" "" "" "" "" "epilepsy, microcephaly" "" "0000269969" "00198" "00374759" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "microcephaly, dystonia" "" "0000269970" "00198" "00374760" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, microcephaly, intellectual disability" "" "0000269971" "00198" "00374761" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000269972" "00198" "00374762" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, microcephaly" "" "0000270741" "04103" "00375514" "01411" "Isolated (sporadic)" "" "overlaps with Singleton-Merten syndrome type 1" "" "" "" "" "" "" "" "" "" "" "" "0000319013" "05611" "00428067" "00006" "Isolated (sporadic)" "2y" "brith at term; delayed speech development; delayed gross motor development; delayed fine motor milestones; mild global developmental delay; 19m-generalized-tonic clonic seizures; no autism; hypotonia; MRI brain retrocerebellar arachnoid cysts; overly friendly in comparison with two older sisters; no failure to thrive; no feeding problems; no dysmotility; no hypoventilation; no vision/eye abnormalities; no hearing impairment; no dysmorphic features; no congenital anomalies; muscle biopsy normal" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" "0000323625" "05292" "00433099" "00006" "Unknown" "3y" "defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000332016" "05618" "00442669" "00006" "Isolated (sporadic)" "17y" "Spastic tetraparesis and mental retardation; generalized muscle echo intensity increase and muscle atrophy; OXPHOS complex I and III abnormalities" "1y" "" "" "" "" "" "" "" "" "Developmental delay without speech, hypotonia, spasticity and muscle weakness and atrophy" "" "0000338898" "00139" "00449735" "03544" "Isolated (sporadic)" "" "HP:0010864, HP:0100021, HP:0001250, HP:0045073" "" "" "" "" "" "" "" "" "AGS7" "intellectual disability" "" "0000342081" "00198" "00453418" "03544" "Isolated (sporadic)" "" "HP:0001249, HP:0002313, HP:0034323, HP:0000821, HP:0000951" "" "" "" "" "" "" "" "" "AGS7" "developmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 40 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000032413" "00032346" "1" "00006" "00006" "2015-02-15 21:57:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000032414" "00032347" "1" "00006" "00006" "2015-02-15 22:04:11" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000032415" "00032348" "1" "00006" "00006" "2015-02-15 22:08:27" "00006" "2015-02-15 22:16:33" "SEQ;SEQ-NG" "DNA" "" "" "0000050302" "00050357" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050303" "00050358" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050304" "00050359" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000111871" "00111407" "1" "00729" "00729" "2017-08-03 07:30:00" "" "" "SEQ-NG" "DNA" "" "" "0000155886" "00155022" "1" "02403" "02403" "2018-03-11 21:33:23" "" "" "SEQ" "DNA" "" "" "0000293468" "00292300" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293469" "00292301" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293470" "00292302" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305834" "00304705" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000335516" "00334290" "1" "04011" "04011" "2021-02-27 03:40:13" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335530" "00334303" "1" "04011" "04011" "2021-02-27 06:32:43" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335547" "00334319" "1" "04011" "04011" "2021-02-27 14:06:51" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335577" "00334349" "1" "04011" "04011" "2021-02-28 03:30:21" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335578" "00334350" "1" "04011" "04011" "2021-02-28 03:46:52" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335592" "00334364" "1" "04011" "04011" "2021-02-28 06:02:33" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335633" "00334404" "1" "04011" "04011" "2021-02-28 14:02:17" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335707" "00334478" "1" "04011" "04011" "2021-03-01 02:55:49" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335727" "00334498" "1" "04011" "04011" "2021-03-01 06:59:25" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335728" "00334499" "1" "04011" "04011" "2021-03-01 07:25:51" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335754" "00334525" "1" "04011" "04011" "2021-03-01 11:22:02" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336087" "00334858" "1" "04011" "04011" "2021-03-02 06:15:27" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336159" "00334929" "1" "04011" "04011" "2021-03-02 13:39:53" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336242" "00335013" "1" "04011" "04011" "2021-03-03 02:01:27" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336248" "00335019" "1" "04011" "04011" "2021-03-03 03:07:46" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336270" "00335041" "1" "04011" "04011" "2021-03-03 06:36:39" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000360116" "00358883" "1" "03566" "03566" "2021-03-17 07:19:02" "00006" "2023-12-01 12:39:32" "SEQ" "DNA" "" "" "0000375431" "00374237" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375953" "00374759" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375954" "00374760" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375955" "00374761" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375956" "00374762" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376712" "00375514" "1" "01411" "01411" "2021-06-06 06:28:05" "" "" "SEQ" "DNA" "" "" "0000429479" "00428067" "1" "00006" "00006" "2022-12-21 10:47:09" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000434530" "00433099" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000444153" "00442669" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451327" "00449735" "1" "03544" "03544" "2024-05-07 13:50:24" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000455029" "00453418" "1" "03544" "03544" "2024-08-23 14:13:20" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000032413" "IFIH1" "0000032414" "IFIH1" "0000032415" "IFIH1" "0000032415" "SPECC1L" "0000050302" "IFIH1" "0000050303" "IFIH1" "0000050304" "IFIH1" "0000111871" "IFIH1" "0000375431" "CDK5RAP2" "0000375953" "IFIH1" "0000375954" "IFIH1" "0000375955" "IFIH1" "0000375956" "IFIH1" ## 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 = 218 "{{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}}" "0000058540" "1" "90" "2" "163128887" "163128887" "subst" "2.45805E-5" "00006" "IFIH1_000001" "g.163128887C>T" "" "{PMID:Rutsch 2015:25620204}, {DOI:Rutsch 2015:10.1016/j.ajhg.2014.12.014}" "" "2625G>A (Arg822Gln)" "" "Germline" "yes" "" "0" "" "" "g.162272377C>T" "" "pathogenic" "" "0000058541" "1" "90" "2" "163128887" "163128887" "subst" "2.45805E-5" "00006" "IFIH1_000001" "g.163128887C>T" "" "{PMID:Rutsch 2015:25620204}, {DOI:Rutsch 2015:10.1016/j.ajhg.2014.12.014}" "" "" "" "Germline" "yes" "rs37604853" "0" "" "" "g.162272377C>T" "" "pathogenic" "" "0000058542" "0" "90" "2" "163128887" "163128887" "subst" "2.45805E-5" "00006" "IFIH1_000001" "g.163128887C>T" "" "{PMID:Rutsch 2015:25620204}, {DOI:Rutsch 2015:10.1016/j.ajhg.2014.12.014}" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.162272377C>T" "" "pathogenic" "" "0000079254" "1" "90" "2" "163124596" "163124596" "subst" "0.00664287" "00006" "IFIH1_000002" "g.163124596C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.162268086C>T" "" "pathogenic" "" "0000079255" "1" "90" "2" "163124596" "163124596" "subst" "0.00664287" "00006" "IFIH1_000002" "g.163124596C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.162268086C>T" "" "pathogenic" "" "0000079256" "1" "90" "2" "163124596" "163124596" "subst" "0.00664287" "00006" "IFIH1_000002" "g.163124596C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.162268086C>T" "" "pathogenic" "" "0000079282" "2" "90" "2" "163134090" "163134090" "subst" "0.00319881" "00006" "IFIH1_000003" "g.163134090C>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.162277580C>A" "" "pathogenic" "" "0000079283" "2" "90" "2" "163134090" "163134090" "subst" "0.00319881" "00006" "IFIH1_000003" "g.163134090C>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.162277580C>A" "" "pathogenic" "" "0000079284" "2" "90" "2" "163134090" "163134090" "subst" "0.00319881" "00006" "IFIH1_000003" "g.163134090C>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.162277580C>A" "" "pathogenic" "" "0000179029" "21" "90" "2" "163130423" "163130423" "subst" "4.0945E-6" "00729" "IFIH1_000004" "g.163130423C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.162273913C>T" "" "pathogenic" "ACMG" "0000256607" "0" "50" "2" "163139085" "163139085" "subst" "0.0002623" "01943" "IFIH1_000015" "g.163139085A>T" "" "" "" "IFIH1(NM_022168.4):c.1097T>A (p.V366E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162282575A>T" "" "VUS" "" "0000285160" "0" "30" "2" "163134757" "163134757" "subst" "0.000383707" "02326" "IFIH1_000012" "g.163134757T>C" "" "" "" "IFIH1(NM_022168.4):c.1723A>G (p.T575A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162278247T>C" "" "likely benign" "" "0000289404" "0" "10" "2" "163144694" "163144694" "subst" "0.00322082" "01943" "IFIH1_000017" "g.163144694T>C" "" "" "" "IFIH1(NM_022168.3):c.1046A>G (p.(Lys349Arg)), IFIH1(NM_022168.4):c.1046A>G (p.K349R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162288184T>C" "" "benign" "" "0000289405" "0" "30" "2" "163144674" "163144674" "subst" "0.000635552" "01943" "IFIH1_000016" "g.163144674G>T" "" "" "" "IFIH1(NM_022168.4):c.1066C>A (p.P356T, p.(Pro356Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162288164G>T" "" "likely benign" "" "0000289406" "0" "30" "2" "163137930" "163137930" "subst" "4.06755E-6" "01943" "IFIH1_000014" "g.163137930C>T" "" "" "" "IFIH1(NM_022168.4):c.1432G>A (p.V478M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162281420C>T" "" "likely benign" "" "0000289407" "0" "50" "2" "163136505" "163136505" "subst" "0.00679197" "01943" "IFIH1_000013" "g.163136505C>G" "" "" "" "IFIH1(NM_022168.3):c.1641+1G>C (p.?), IFIH1(NM_022168.4):c.1641+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162279995C>G" "" "VUS" "" "0000289408" "0" "30" "2" "163134090" "163134090" "subst" "0.00319881" "01943" "IFIH1_000003" "g.163134090C>A" "" "" "" "IFIH1(NM_022168.3):c.1879G>T (p.(Glu627Ter)), IFIH1(NM_022168.4):c.1879G>T (p.E627*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162277580C>A" "" "likely benign" "" "0000289409" "0" "30" "2" "163133396" "163133396" "subst" "0.00233326" "01943" "IFIH1_000011" "g.163133396G>A" "" "" "" "IFIH1(NM_022168.4):c.2105C>T (p.T702I, p.(Thr702Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162276886G>A" "" "likely benign" "" "0000289410" "0" "30" "2" "163133302" "163133302" "subst" "0" "01943" "IFIH1_000010" "g.163133302C>A" "" "" "" "IFIH1(NM_022168.4):c.2199G>T (p.A733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162276792C>A" "" "likely benign" "" "0000289411" "0" "90" "2" "163130442" "163130442" "subst" "6.22401E-5" "01943" "IFIH1_000009" "g.163130442C>A" "" "" "" "IFIH1(NM_022168.4):c.2317G>T (p.E773*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162273932C>A" "" "pathogenic" "" "0000289412" "0" "50" "2" "163128880" "163128880" "subst" "0" "01943" "IFIH1_000008" "g.163128880T>G" "" "" "" "IFIH1(NM_022168.4):c.2472A>C (p.R824S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162272370T>G" "" "VUS" "" "0000289413" "0" "30" "2" "163128862" "163128862" "subst" "7.73483E-5" "01943" "IFIH1_000007" "g.163128862G>A" "" "" "" "IFIH1(NM_022168.4):c.2490C>T (p.Y830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162272352G>A" "" "likely benign" "" "0000289414" "0" "50" "2" "163128755" "163128755" "subst" "0.000389875" "01943" "IFIH1_000006" "g.163128755G>A" "" "" "" "IFIH1(NM_022168.4):c.2597C>T (p.P866L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162272245G>A" "" "VUS" "" "0000289415" "0" "30" "2" "163123842" "163123842" "subst" "0.0012226" "01943" "IFIH1_000005" "g.163123842G>A" "" "" "" "IFIH1(NM_022168.4):c.2946C>T (p.L982=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162267332G>A" "" "likely benign" "" "0000289416" "0" "30" "2" "163167341" "163167341" "subst" "5.69393E-5" "01943" "IFIH1_000019" "g.163167341G>A" "" "" "" "IFIH1(NM_022168.4):c.556C>T (p.R186C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162310831G>A" "" "likely benign" "" "0000343305" "0" "90" "2" "163133342" "163133342" "subst" "0" "02327" "IFIH1_000021" "g.163133342C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162276832C>T" "" "pathogenic" "" "0000343355" "0" "90" "2" "163130424" "163130424" "subst" "0" "02327" "IFIH1_000020" "g.163130424G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162273914G>A" "" "pathogenic" "" "0000357718" "11" "70" "2" "163128808" "163128808" "subst" "0" "02403" "IFIH1_000023" "g.163128808A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.162272298A>C" "" "likely pathogenic" "" "0000509745" "0" "50" "2" "163123826" "163123826" "subst" "0.000441786" "01943" "IFIH1_000025" "g.163123826C>A" "" "" "" "IFIH1(NM_022168.4):c.2962G>T (p.V988L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162267316C>A" "" "VUS" "" "0000509746" "0" "30" "2" "163124020" "163124020" "subst" "3.24984E-5" "01943" "IFIH1_000026" "g.163124020A>G" "" "" "" "IFIH1(NM_022168.4):c.2867T>C (p.I956T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162267510A>G" "" "likely benign" "" "0000509747" "0" "30" "2" "163124024" "163124024" "subst" "0.000983108" "01943" "IFIH1_000027" "g.163124024G>C" "" "" "" "IFIH1(NM_022168.3):c.2863C>G (p.(Gln955Glu)), IFIH1(NM_022168.4):c.2863C>G (p.Q955E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162267514G>C" "" "likely benign" "" "0000509748" "0" "30" "2" "163124024" "163124024" "subst" "0.000983108" "01804" "IFIH1_000027" "g.163124024G>C" "" "" "" "IFIH1(NM_022168.3):c.2863C>G (p.(Gln955Glu)), IFIH1(NM_022168.4):c.2863C>G (p.Q955E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162267514G>C" "" "likely benign" "" "0000509749" "0" "30" "2" "163124024" "163124024" "subst" "0.000983108" "02326" "IFIH1_000027" "g.163124024G>C" "" "" "" "IFIH1(NM_022168.3):c.2863C>G (p.(Gln955Glu)), IFIH1(NM_022168.4):c.2863C>G (p.Q955E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162267514G>C" "" "likely benign" "" "0000509750" "0" "50" "2" "163124619" "163124619" "subst" "0.000542313" "01943" "IFIH1_000028" "g.163124619C>T" "" "" "" "IFIH1(NM_022168.4):c.2785G>A (p.V929I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162268109C>T" "" "VUS" "" "0000509751" "0" "30" "2" "163124637" "163124637" "subst" "0.0114253" "01804" "IFIH1_000029" "g.163124637T>C" "" "" "" "IFIH1(NM_022168.3):c.2767A>G (p.(Ile923Val)), IFIH1(NM_022168.4):c.2767A>G (p.I923V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162268127T>C" "" "likely benign" "" "0000509752" "0" "30" "2" "163128755" "163128755" "subst" "0.000389875" "02326" "IFIH1_000006" "g.163128755G>A" "" "" "" "IFIH1(NM_022168.4):c.2597C>T (p.P866L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162272245G>A" "" "likely benign" "" "0000509753" "0" "90" "2" "163128887" "163128887" "subst" "2.45805E-5" "02329" "IFIH1_000001" "g.163128887C>T" "" "" "" "IFIH1(NM_022168.3):c.2465G>A (p.(Arg822Gln)), IFIH1(NM_022168.4):c.2465G>A (p.R822Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162272377C>T" "" "pathogenic" "" "0000509754" "0" "50" "2" "163133194" "163133194" "subst" "0.00033559" "01943" "IFIH1_000030" "g.163133194T>C" "" "" "" "IFIH1(NM_022168.4):c.2304+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162276684T>C" "" "VUS" "" "0000509755" "0" "30" "2" "163133305" "163133305" "subst" "0.000215444" "02326" "IFIH1_000031" "g.163133305A>G" "" "" "" "IFIH1(NM_022168.4):c.2196T>C (p.Y732=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162276795A>G" "" "likely benign" "" "0000509756" "0" "30" "2" "163134090" "163134090" "subst" "0.00319881" "02325" "IFIH1_000003" "g.163134090C>A" "" "" "" "IFIH1(NM_022168.3):c.1879G>T (p.(Glu627Ter)), IFIH1(NM_022168.4):c.1879G>T (p.E627*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162277580C>A" "" "likely benign" "" "0000509757" "0" "50" "2" "163134176" "163134176" "subst" "6.26881E-5" "01943" "IFIH1_000032" "g.163134176C>T" "" "" "" "IFIH1(NM_022168.4):c.1793G>A (p.R598H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162277666C>T" "" "VUS" "" "0000509758" "0" "50" "2" "163134723" "163134723" "dup" "0" "01943" "IFIH1_000033" "g.163134723dup" "" "" "" "IFIH1(NM_022168.4):c.1764dupA (p.A589Sfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162278213dup" "" "VUS" "" "0000509759" "0" "30" "2" "163134846" "163134846" "subst" "4.15229E-5" "02326" "IFIH1_000034" "g.163134846T>C" "" "" "" "IFIH1(NM_022168.4):c.1642-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162278336T>C" "" "likely benign" "" "0000509760" "0" "30" "2" "163136505" "163136505" "subst" "0.00679197" "01804" "IFIH1_000013" "g.163136505C>G" "" "" "" "IFIH1(NM_022168.3):c.1641+1G>C (p.?), IFIH1(NM_022168.4):c.1641+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162279995C>G" "" "likely benign" "" "0000509761" "0" "50" "2" "163136544" "163136544" "subst" "0" "01943" "IFIH1_000035" "g.163136544G>C" "" "" "" "IFIH1(NM_022168.4):c.1603C>G (p.P535A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162280034G>C" "" "VUS" "" "0000509762" "0" "30" "2" "163136564" "163136564" "subst" "0.000464946" "01943" "IFIH1_000036" "g.163136564A>C" "" "" "" "IFIH1(NM_022168.4):c.1583T>G (p.L528R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162280054A>C" "" "likely benign" "" "0000509763" "0" "30" "2" "163136620" "163136620" "subst" "5.00092E-5" "01943" "IFIH1_000037" "g.163136620T>C" "" "" "" "IFIH1(NM_022168.4):c.1527A>G (p.L509=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162280110T>C" "" "likely benign" "" "0000509764" "0" "30" "2" "163137881" "163137881" "subst" "0.000508527" "01943" "IFIH1_000038" "g.163137881C>A" "" "" "" "IFIH1(NM_022168.4):c.1481G>T (p.G494V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162281371C>A" "" "likely benign" "" "0000509765" "0" "30" "2" "163138050" "163138050" "subst" "0.000146838" "01943" "IFIH1_000039" "g.163138050A>G" "" "" "" "IFIH1(NM_022168.4):c.1312T>C (p.S438P, p.(Ser438Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162281540A>G" "" "likely benign" "" "0000509766" "0" "30" "2" "163138050" "163138050" "subst" "0.000146838" "02325" "IFIH1_000039" "g.163138050A>G" "" "" "" "IFIH1(NM_022168.4):c.1312T>C (p.S438P, p.(Ser438Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162281540A>G" "" "likely benign" "" "0000509767" "0" "50" "2" "163139030" "163139030" "subst" "1.6378E-5" "01943" "IFIH1_000040" "g.163139030C>T" "" "" "" "IFIH1(NM_022168.3):c.1152G>A (p.(Trp384*)), IFIH1(NM_022168.4):c.1152G>A (p.W384*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162282520C>T" "" "VUS" "" "0000509768" "0" "30" "2" "163139061" "163139061" "subst" "0.000536552" "01943" "IFIH1_000041" "g.163139061C>T" "" "" "" "IFIH1(NM_022168.4):c.1121G>A (p.R374H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162282551C>T" "" "likely benign" "" "0000509769" "0" "30" "2" "163144694" "163144694" "subst" "0.00322082" "02326" "IFIH1_000017" "g.163144694T>C" "" "" "" "IFIH1(NM_022168.3):c.1046A>G (p.(Lys349Arg)), IFIH1(NM_022168.4):c.1046A>G (p.K349R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162288184T>C" "" "likely benign" "" "0000509770" "0" "50" "2" "163144805" "163144805" "del" "0" "02327" "IFIH1_000042" "g.163144805del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162288295del" "" "VUS" "" "0000509771" "0" "30" "2" "163163211" "163163211" "dup" "0" "01943" "IFIH1_000043" "g.163163211dup" "" "" "" "IFIH1(NM_022168.4):c.769+10dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162306701dup" "" "likely benign" "" "0000509772" "0" "30" "2" "163167340" "163167340" "subst" "2.03348E-5" "01943" "IFIH1_000044" "g.163167340C>G" "" "" "" "IFIH1(NM_022168.3):c.557G>C (p.(Arg186Pro)), IFIH1(NM_022168.4):c.557G>C (p.R186P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162310830C>G" "" "likely benign" "" "0000509773" "0" "30" "2" "163167340" "163167340" "subst" "2.03348E-5" "01804" "IFIH1_000044" "g.163167340C>G" "" "" "" "IFIH1(NM_022168.3):c.557G>C (p.(Arg186Pro)), IFIH1(NM_022168.4):c.557G>C (p.R186P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162310830C>G" "" "likely benign" "" "0000509774" "0" "30" "2" "163167370" "163167370" "subst" "7.32225E-5" "01804" "IFIH1_000045" "g.163167370T>C" "" "" "" "IFIH1(NM_022168.3):c.527A>G (p.(Asn176Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162310860T>C" "" "likely benign" "" "0000509775" "0" "30" "2" "163167419" "163167419" "subst" "0.0005955" "01943" "IFIH1_000046" "g.163167419T>C" "" "" "" "IFIH1(NM_022168.4):c.478A>G (p.N160D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162310909T>C" "" "likely benign" "" "0000509776" "0" "50" "2" "163167444" "163167444" "subst" "2.87215E-5" "01943" "IFIH1_000047" "g.163167444C>A" "" "" "" "IFIH1(NM_022168.4):c.454-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162310934C>A" "" "VUS" "" "0000509777" "0" "30" "2" "163174382" "163174382" "subst" "0.00029664" "01943" "GCA_000001" "g.163174382T>C" "" "" "" "IFIH1(NM_022168.4):c.436A>G (p.I146V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162317872T>C" "" "likely benign" "" "0000509778" "0" "30" "2" "163174391" "163174391" "subst" "0.000465289" "01943" "GCA_000002" "g.163174391G>A" "" "" "" "IFIH1(NM_022168.4):c.427C>T (p.L143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162317881G>A" "" "likely benign" "" "0000509779" "0" "30" "2" "163174519" "163174519" "subst" "2.03034E-5" "01804" "GCA_000003" "g.163174519G>C" "" "" "" "IFIH1(NM_022168.3):c.299C>G (p.(Thr100Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162318009G>C" "" "likely benign" "" "0000509781" "0" "10" "2" "163174560" "163174560" "subst" "0.00115735" "01943" "GCA_000005" "g.163174560G>C" "" "" "" "IFIH1(NM_022168.4):c.258C>G (p.T86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162318050G>C" "" "benign" "" "0000606172" "0" "30" "2" "163123893" "163123893" "subst" "0.000439339" "01943" "IFIH1_000048" "g.163123893G>A" "" "" "" "IFIH1(NM_022168.4):c.2899-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162267383G>A" "" "likely benign" "" "0000606173" "0" "50" "2" "163124688" "163124688" "subst" "0" "01943" "IFIH1_000049" "g.163124688G>A" "" "" "" "IFIH1(NM_022168.4):c.2716C>T (p.L906F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162268178G>A" "" "VUS" "" "0000606174" "0" "70" "2" "163128887" "163128887" "subst" "2.45805E-5" "01804" "IFIH1_000001" "g.163128887C>T" "" "" "" "IFIH1(NM_022168.3):c.2465G>A (p.(Arg822Gln)), IFIH1(NM_022168.4):c.2465G>A (p.R822Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162272377C>T" "" "likely pathogenic" "" "0000606175" "0" "50" "2" "163130429" "163130429" "subst" "8.2272E-6" "02325" "IFIH1_000051" "g.163130429T>C" "" "" "" "IFIH1(NM_022168.4):c.2330A>G (p.(Lys777Arg), p.K777R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162273919T>C" "" "VUS" "" "0000606176" "0" "50" "2" "163144644" "163144644" "subst" "2.4523E-5" "02325" "IFIH1_000052" "g.163144644C>T" "" "" "" "IFIH1(NM_022168.4):c.1095+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162288134C>T" "" "VUS" "" "0000606177" "0" "70" "2" "163144722" "163144722" "subst" "0" "01804" "IFIH1_000053" "g.163144722C>G" "" "" "" "IFIH1(NM_022168.3):c.1018G>C (p.(Val340Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162288212C>G" "" "likely pathogenic" "" "0000606178" "0" "50" "2" "163174756" "163174756" "subst" "4.06296E-6" "02325" "GCA_000006" "g.163174756C>A" "" "" "" "IFIH1(NM_022168.4):c.62G>T (p.R21M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162318246C>A" "" "VUS" "" "0000620756" "0" "30" "2" "163130398" "163130398" "subst" "0.000151126" "01943" "IFIH1_000050" "g.163130398G>A" "" "" "" "IFIH1(NM_022168.4):c.2361C>T (p.I787=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162273888G>A" "" "likely benign" "" "0000620757" "0" "30" "2" "163136505" "163136505" "subst" "0.00679197" "02325" "IFIH1_000013" "g.163136505C>G" "" "" "" "IFIH1(NM_022168.3):c.1641+1G>C (p.?), IFIH1(NM_022168.4):c.1641+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162279995C>G" "" "likely benign" "" "0000650157" "1" "10" "2" "163124596" "163124596" "subst" "0.00664287" "03575" "IFIH1_000002" "g.163124596C>T" "51/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "51 heterozygous; {DB:CLININrs35732034}" "Germline" "" "rs35732034" "0" "" "" "g.162268086C>T" "" "benign" "" "0000650158" "1" "10" "2" "163124637" "163124637" "subst" "0.0114253" "03575" "IFIH1_000029" "g.163124637T>C" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs35667974}" "Germline" "" "rs35667974" "0" "" "" "g.162268127T>C" "" "benign" "" "0000650159" "1" "30" "2" "163134090" "163134090" "subst" "0.00319881" "03575" "IFIH1_000003" "g.163134090C>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs35744605}" "Germline" "" "rs35744605" "0" "" "" "g.162277580C>A" "" "likely benign" "" "0000654233" "0" "30" "2" "163123826" "163123826" "subst" "0.000441786" "02325" "IFIH1_000025" "g.163123826C>A" "" "" "" "IFIH1(NM_022168.4):c.2962G>T (p.V988L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162267316C>A" "" "likely benign" "" "0000654234" "0" "30" "2" "163130296" "163130296" "subst" "0.000409618" "02326" "IFIH1_000054" "g.163130296T>C" "" "" "" "IFIH1(NM_022168.4):c.2454+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162273786T>C" "" "likely benign" "" "0000669522" "3" "10" "2" "163124596" "163124596" "subst" "0.00664287" "03575" "IFIH1_000002" "g.163124596C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs35732034}" "Germline" "" "rs35732034" "0" "" "" "g.162268086C>T" "" "benign" "" "0000676060" "0" "30" "2" "163130397" "163130397" "subst" "0.000555252" "01943" "IFIH1_000055" "g.163130397C>T" "" "" "" "IFIH1(NM_022168.4):c.2362G>A (p.A788T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676061" "0" "50" "2" "163133935" "163133935" "dup" "0" "01804" "IFIH1_000056" "g.163133935dup" "" "" "" "IFIH1(NM_022168.3):c.2036dup (p.(Leu679Phefs*4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676062" "0" "50" "2" "163136595" "163136595" "subst" "4.09095E-5" "01943" "IFIH1_000057" "g.163136595T>C" "" "" "" "IFIH1(NM_022168.4):c.1552A>G (p.I518V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676063" "0" "70" "2" "163167392" "163167392" "subst" "8.13709E-6" "01943" "IFIH1_000058" "g.163167392T>A" "" "" "" "IFIH1(NM_022168.3):c.505A>T (p.(Lys169*)), IFIH1(NM_022168.4):c.505A>T (p.K169*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000688357" "0" "50" "2" "163124025" "163124025" "subst" "6.09345E-5" "01943" "IFIH1_000059" "g.163124025A>C" "" "" "" "IFIH1(NM_022168.4):c.2862T>G (p.Y954*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688358" "0" "50" "2" "163130342" "163130342" "subst" "2.48293E-5" "02325" "IFIH1_000060" "g.163130342C>T" "" "" "" "IFIH1(NM_022168.3):c.2417G>A (p.(Arg806His)), IFIH1(NM_022168.4):c.2417G>A (p.R806H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688359" "0" "50" "2" "163134172" "163134182" "del" "3.34149E-5" "02325" "IFIH1_000061" "g.163134172_163134182del" "" "" "" "IFIH1(NM_022168.4):c.1787_1797delAAGAACGTGTT (p.K596Mfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717912" "0" "30" "2" "163123869" "163123869" "subst" "7.3216E-5" "01943" "IFIH1_000062" "g.163123869C>G" "" "" "" "IFIH1(NM_022168.4):c.2919G>C (p.V973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717913" "0" "50" "2" "163128888" "163128888" "subst" "5.33001E-5" "01943" "IFIH1_000063" "g.163128888G>A" "" "" "" "IFIH1(NM_022168.4):c.2464C>T (p.R822*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717914" "0" "50" "2" "163130442" "163130442" "del" "7.87722E-5" "01943" "IFIH1_000064" "g.163130442del" "" "" "" "IFIH1(NM_022168.4):c.2317delG (p.E773Kfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717915" "0" "50" "2" "163130443" "163130443" "subst" "7.90238E-5" "01943" "IFIH1_000065" "g.163130443T>A" "" "" "" "IFIH1(NM_022168.4):c.2316A>T (p.K772N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717916" "0" "50" "2" "163133303" "163133303" "subst" "0.000101647" "02325" "IFIH1_000066" "g.163133303G>A" "" "" "" "IFIH1(NM_022168.4):c.2198C>T (p.A733V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717917" "0" "30" "2" "163133953" "163133953" "del" "0.000348513" "02325" "IFIH1_000067" "g.163133953del" "" "" "" "IFIH1(NM_022168.4):c.2016del (p.(Asp673IlefsTer5)), IFIH1(NM_022168.4):c.2016delA (p.D673Ifs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717918" "0" "30" "2" "163136505" "163136505" "subst" "0.00679197" "02326" "IFIH1_000013" "g.163136505C>G" "" "" "" "IFIH1(NM_022168.3):c.1641+1G>C (p.?), IFIH1(NM_022168.4):c.1641+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717919" "0" "30" "2" "163137864" "163137864" "subst" "1.22161E-5" "01943" "IFIH1_000068" "g.163137864C>T" "" "" "" "IFIH1(NM_022168.4):c.1498G>A (p.A500T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717920" "0" "30" "2" "163167419" "163167419" "subst" "0.0005955" "02325" "IFIH1_000046" "g.163167419T>C" "" "" "" "IFIH1(NM_022168.4):c.478A>G (p.N160D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717921" "0" "50" "2" "163174429" "163174429" "subst" "0" "02325" "GCA_000007" "g.163174429A>G" "" "" "" "IFIH1(NM_022168.4):c.389T>C (p.L130P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717922" "0" "30" "2" "163174589" "163174589" "subst" "0.000714738" "01943" "GCA_000008" "g.163174589G>A" "" "" "" "IFIH1(NM_022168.4):c.229C>T (p.R77W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000733948" "0" "70" "2" "163174589" "163174589" "subst" "0.000714738" "04011" "GCA_000008" "g.163174589G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000733994" "0" "70" "2" "163174589" "163174589" "subst" "0.000714738" "04011" "GCA_000008" "g.163174589G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734051" "0" "70" "2" "163137846" "163137846" "subst" "0.000102045" "04011" "IFIH1_000071" "g.163137846T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734144" "0" "70" "2" "163139047" "163139047" "subst" "0" "04011" "IFIH1_000072" "g.163139047G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734148" "0" "70" "2" "163174589" "163174589" "subst" "0.000714738" "04011" "GCA_000008" "g.163174589G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734187" "0" "70" "2" "163133386" "163133386" "subst" "0.000293444" "04011" "IFIH1_000069" "g.163133386T>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734314" "0" "70" "2" "163137846" "163137846" "subst" "0.000102045" "04011" "IFIH1_000071" "g.163137846T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734431" "0" "70" "2" "163134028" "163134028" "del" "0" "04011" "IFIH1_000070" "g.163134028del" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "0" "" "" "g.162277518del" "" "VUS" "" "0000734506" "0" "70" "2" "163134070" "163134070" "subst" "0.000236179" "04011" "IFIH1_000075" "g.163134070C>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734511" "0" "70" "2" "163124596" "163124596" "subst" "0.00664287" "04011" "IFIH1_000002" "g.163124596C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734578" "0" "70" "2" "163167410" "163167410" "subst" "4.07299E-6" "04011" "IFIH1_000078" "g.163167410C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735080" "0" "70" "2" "163144699" "163144699" "subst" "7.7359E-5" "04011" "IFIH1_000077" "g.163144699T>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735270" "0" "70" "2" "163124789" "163124789" "subst" "0" "04011" "IFIH1_000073" "g.163124789T>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735420" "0" "70" "2" "163133269" "163133269" "subst" "0.000252018" "04011" "IFIH1_000074" "g.163133269A>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735443" "0" "70" "2" "163133269" "163133269" "subst" "0.000252018" "04011" "IFIH1_000074" "g.163133269A>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735533" "0" "70" "2" "163144647" "163144647" "subst" "0.000518659" "04011" "IFIH1_000076" "g.163144647T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000759814" "0" "90" "2" "163134119" "163134119" "subst" "0" "03566" "IFIH1_000112" "g.163134119A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.162277609A>G" "" "pathogenic" "ACMG" "0000787304" "0" "50" "2" "163174537" "163174537" "subst" "0" "00006" "IFIH1_000083" "g.163174537T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs1325840950" "0" "" "" "g.162318027T>C" "" "VUS" "" "0000787305" "0" "50" "2" "163134828" "163134828" "subst" "1.78953E-5" "00006" "IFIH1_000081" "g.163134828T>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs577764827" "0" "" "" "g.162278318T>G" "" "VUS" "" "0000787306" "0" "50" "2" "163124762" "163124762" "subst" "0" "00006" "IFIH1_000080" "g.163124762A>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.162268252A>T" "" "VUS" "" "0000787307" "0" "50" "2" "163124620" "163124620" "subst" "4.16622E-6" "00006" "IFIH1_000079" "g.163124620G>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs145187664" "0" "" "" "g.162268110G>C" "" "VUS" "" "0000787454" "0" "50" "2" "163137929" "163137929" "subst" "0" "00000" "IFIH1_000082" "g.163137929A>G" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.162281419A>G" "" "VUS" "" "0000788606" "0" "90" "2" "163130369" "163130369" "subst" "0" "01411" "IFIH1_000084" "g.163130369T>A" "" "{PMID:Hasegawa 2022:34453469}" "" "" "" "De novo" "" "" "0" "" "" "g.162273859T>A" "" "pathogenic (dominant)" "" "0000799744" "0" "50" "2" "163130342" "163130342" "subst" "2.48293E-5" "01943" "IFIH1_000060" "g.163130342C>T" "" "" "" "IFIH1(NM_022168.3):c.2417G>A (p.(Arg806His)), IFIH1(NM_022168.4):c.2417G>A (p.R806H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799745" "0" "50" "2" "163133207" "163133207" "subst" "4.49306E-5" "02325" "IFIH1_000085" "g.163133207G>A" "" "" "" "IFIH1(NM_022168.3):c.2294C>T (p.(Pro765Leu)), IFIH1(NM_022168.4):c.2294C>T (p.P765L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799746" "0" "30" "2" "163136564" "163136564" "subst" "0.000464946" "02325" "IFIH1_000036" "g.163136564A>C" "" "" "" "IFIH1(NM_022168.4):c.1583T>G (p.L528R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799747" "0" "30" "2" "163144674" "163144674" "subst" "0.000635552" "02326" "IFIH1_000016" "g.163144674G>T" "" "" "" "IFIH1(NM_022168.4):c.1066C>A (p.P356T, p.(Pro356Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799748" "0" "50" "2" "163163285" "163163295" "del" "0" "02325" "IFIH1_000086" "g.163163285_163163295del" "" "" "" "IFIH1(NM_022168.4):c.694_704delAATCTGGAGAA (p.N232Gfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848993" "0" "30" "2" "163133396" "163133396" "subst" "0.00233326" "02326" "IFIH1_000011" "g.163133396G>A" "" "" "" "IFIH1(NM_022168.4):c.2105C>T (p.T702I, p.(Thr702Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848994" "0" "50" "2" "163134090" "163134090" "subst" "0.00319881" "02327" "IFIH1_000003" "g.163134090C>A" "" "" "" "IFIH1(NM_022168.3):c.1879G>T (p.(Glu627Ter)), IFIH1(NM_022168.4):c.1879G>T (p.E627*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848995" "0" "50" "2" "163138912" "163138912" "del" "0" "01943" "IFIH1_000091" "g.163138912del" "" "" "" "IFIH1(NM_022168.4):c.1271delT (p.L424Wfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848996" "0" "30" "2" "163174641" "163174641" "subst" "0.00175833" "02326" "GCA_000009" "g.163174641A>G" "" "" "" "IFIH1(NM_022168.4):c.177T>C (p.V59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857795" "0" "10" "2" "163124596" "163124596" "subst" "0.00664287" "01804" "IFIH1_000002" "g.163124596C>T" "" "" "" "IFIH1(NM_022168.3):c.2807+1G>A (p.?), IFIH1(NM_022168.4):c.2807+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857796" "0" "30" "2" "163124722" "163124722" "subst" "0.00019113" "01943" "IFIH1_000087" "g.163124722C>T" "" "" "" "IFIH1(NM_022168.4):c.2682G>A (p.K894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857797" "0" "30" "2" "163124722" "163124722" "subst" "0.00019113" "02326" "IFIH1_000087" "g.163124722C>T" "" "" "" "IFIH1(NM_022168.4):c.2682G>A (p.K894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857798" "0" "50" "2" "163128828" "163128828" "subst" "0.000415303" "01943" "IFIH1_000088" "g.163128828C>T" "" "" "" "IFIH1(NM_022168.4):c.2524G>A (p.E842K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857799" "0" "50" "2" "163130324" "163130324" "subst" "0.000154317" "01943" "IFIH1_000089" "g.163130324T>C" "" "" "" "IFIH1(NM_022168.4):c.2435A>G (p.N812S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857800" "0" "50" "2" "163133952" "163133952" "subst" "8.29793E-6" "01943" "IFIH1_000090" "g.163133952C>T" "" "" "" "IFIH1(NM_022168.4):c.2017G>A (p.D673N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857801" "0" "30" "2" "163134090" "163134090" "subst" "0.00319881" "02326" "IFIH1_000003" "g.163134090C>A" "" "" "" "IFIH1(NM_022168.3):c.1879G>T (p.(Glu627Ter)), IFIH1(NM_022168.4):c.1879G>T (p.E627*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857802" "0" "30" "2" "163134846" "163134846" "subst" "4.15229E-5" "01943" "IFIH1_000034" "g.163134846T>C" "" "" "" "IFIH1(NM_022168.4):c.1642-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883812" "0" "50" "2" "163123733" "163123733" "del" "0" "02325" "IFIH1_000092" "g.163123733del" "" "" "" "IFIH1(NM_022168.4):c.3055del (p.(Cys1019ValfsTer10)), IFIH1(NM_022168.4):c.3055delT (p.C1019Vfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883813" "0" "30" "2" "163123842" "163123842" "subst" "0.0012226" "02326" "IFIH1_000005" "g.163123842G>A" "" "" "" "IFIH1(NM_022168.4):c.2946C>T (p.L982=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883814" "0" "30" "2" "163123972" "163123972" "subst" "0.000130002" "02326" "IFIH1_000093" "g.163123972C>T" "" "" "" "IFIH1(NM_022168.4):c.2898+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883815" "0" "50" "2" "163124596" "163124596" "subst" "0.00664287" "02325" "IFIH1_000002" "g.163124596C>T" "" "" "" "IFIH1(NM_022168.3):c.2807+1G>A (p.?), IFIH1(NM_022168.4):c.2807+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883816" "0" "50" "2" "163133386" "163133386" "subst" "0.000293444" "02326" "IFIH1_000069" "g.163133386T>G" "" "" "" "IFIH1(NM_022168.4):c.2115A>C (p.R705S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883817" "0" "50" "2" "163134083" "163134083" "subst" "2.44268E-5" "02325" "IFIH1_000094" "g.163134083A>G" "" "" "" "IFIH1(NM_022168.4):c.1886T>C (p.F629S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883818" "0" "30" "2" "163134770" "163134770" "subst" "8.42148E-6" "02326" "IFIH1_000095" "g.163134770C>T" "" "" "" "IFIH1(NM_022168.4):c.1710G>A (p.M570I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883819" "0" "50" "2" "163138888" "163138888" "subst" "0" "02325" "IFIH1_000096" "g.163138888C>A" "" "" "" "IFIH1(NM_022168.3):c.1294G>T (p.(Val432Phe)), IFIH1(NM_022168.4):c.1294G>T (p.V432F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883820" "0" "30" "2" "163174589" "163174589" "subst" "0.000714738" "02326" "GCA_000008" "g.163174589G>A" "" "" "" "IFIH1(NM_022168.4):c.229C>T (p.R77W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000908995" "21" "70" "2" "163138004" "163138004" "subst" "4.0799E-6" "00006" "IFIH1_000097" "g.163138004A>G" "" "{PMID:Paul 2023:36528028}, {DOI:Paul 2023:10.1016/j.ajhg.2022.11.011}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000911208" "0" "30" "2" "163123869" "163123869" "subst" "7.3216E-5" "02326" "IFIH1_000062" "g.163123869C>G" "" "" "" "IFIH1(NM_022168.4):c.2919G>C (p.V973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911209" "0" "10" "2" "163124051" "163124051" "subst" "0.504062" "02329" "IFIH1_000098" "g.163124051C>T" "" "" "" "IFIH1(NM_022168.4):c.2836G>A (p.A946T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911210" "0" "10" "2" "163124637" "163124637" "subst" "0.0114253" "02329" "IFIH1_000029" "g.163124637T>C" "" "" "" "IFIH1(NM_022168.3):c.2767A>G (p.(Ile923Val)), IFIH1(NM_022168.4):c.2767A>G (p.I923V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911211" "0" "10" "2" "163128824" "163128824" "subst" "0.678583" "02329" "IFIH1_000099" "g.163128824T>C" "" "" "" "IFIH1(NM_022168.4):c.2528A>G (p.H843R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911212" "0" "50" "2" "163128827" "163128827" "subst" "3.25672E-5" "02325" "IFIH1_000100" "g.163128827T>A" "" "" "" "IFIH1(NM_022168.4):c.2525A>T (p.E842V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911213" "0" "50" "2" "163133289" "163133289" "subst" "4.06484E-6" "02325" "IFIH1_000101" "g.163133289T>C" "" "" "" "IFIH1(NM_022168.4):c.2212A>G (p.I738V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911214" "0" "50" "2" "163133952" "163133952" "subst" "8.29793E-6" "02329" "IFIH1_000090" "g.163133952C>T" "" "" "" "IFIH1(NM_022168.4):c.2017G>A (p.D673N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911215" "0" "50" "2" "163136522" "163136522" "subst" "8.15807E-6" "01804" "IFIH1_000102" "g.163136522G>T" "" "" "" "IFIH1(NM_022168.3):c.1625C>A (p.(Ala542Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911216" "0" "50" "2" "163138939" "163138939" "subst" "7.75409E-5" "02325" "IFIH1_000103" "g.163138939G>T" "" "" "" "IFIH1(NM_022168.4):c.1243C>A (p.Q415K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911217" "0" "50" "2" "163167444" "163167444" "subst" "2.87215E-5" "02326" "IFIH1_000047" "g.163167444C>A" "" "" "" "IFIH1(NM_022168.4):c.454-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920284" "1" "50" "2" "163128803" "163128803" "subst" "3.26344E-5" "00006" "IFIH1_000104" "g.163128803C>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "not maternally inherited" "Germline" "" "" "0" "" "" "g.162272293C>T" "" "VUS" "ACMG" "0000923315" "0" "30" "2" "163124620" "163124620" "subst" "0.000312466" "02326" "IFIH1_000105" "g.163124620G>A" "" "" "" "IFIH1(NM_022168.4):c.2784C>T (p.H928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923316" "0" "10" "2" "163128725" "163128725" "subst" "0.094115" "02329" "IFIH1_000106" "g.163128725A>G" "" "" "" "IFIH1(NM_022168.4):c.2616+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923317" "0" "10" "2" "163128883" "163128883" "subst" "0.0235523" "02329" "IFIH1_000107" "g.163128883G>A" "" "" "" "IFIH1(NM_022168.4):c.2469C>T (p.(Ala823=), p.A823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923318" "0" "50" "2" "163128893" "163128893" "subst" "0.00020943" "02325" "IFIH1_000108" "g.163128893C>T" "" "" "" "IFIH1(NM_022168.4):c.2459G>A (p.(Arg820His), p.R820H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923319" "0" "10" "2" "163137871" "163137871" "subst" "0.0888084" "02329" "IFIH1_000109" "g.163137871C>G" "" "" "" "IFIH1(NM_022168.4):c.1491G>C (p.T497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923320" "0" "10" "2" "163137983" "163137983" "subst" "0.0952994" "02329" "IFIH1_000110" "g.163137983T>C" "" "" "" "IFIH1(NM_022168.4):c.1379A>G (p.H460R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923321" "0" "10" "2" "163144694" "163144694" "subst" "0.00322082" "01804" "IFIH1_000017" "g.163144694T>C" "" "" "" "IFIH1(NM_022168.3):c.1046A>G (p.(Lys349Arg)), IFIH1(NM_022168.4):c.1046A>G (p.K349R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928287" "0" "30" "2" "163124596" "163124596" "subst" "0.00664287" "02326" "IFIH1_000002" "g.163124596C>T" "" "" "" "IFIH1(NM_022168.3):c.2807+1G>A (p.?), IFIH1(NM_022168.4):c.2807+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928288" "0" "70" "2" "163134723" "163134723" "dup" "0" "02325" "IFIH1_000033" "g.163134723dup" "" "" "" "IFIH1(NM_022168.4):c.1764dupA (p.A589Sfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000928289" "0" "50" "2" "163134786" "163134786" "subst" "5.86152E-5" "02325" "IFIH1_000111" "g.163134786C>A" "" "" "" "IFIH1(NM_022168.4):c.1694G>T (p.C565F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928290" "0" "50" "2" "163167444" "163167444" "subst" "2.87215E-5" "02325" "IFIH1_000047" "g.163167444C>A" "" "" "" "IFIH1(NM_022168.4):c.454-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946010" "0" "90" "2" "163130424" "163130424" "subst" "0" "00006" "IFIH1_000020" "g.163130424G>A" "" "{PMID:Westra 2019:31127727}" "" "" "" "De novo" "" "" "0" "" "" "g.162273914G>A" "" "pathogenic (dominant)" "" "0000947372" "0" "50" "2" "163128828" "163128828" "subst" "0.000415303" "02325" "IFIH1_000088" "g.163128828C>T" "" "" "" "IFIH1(NM_022168.4):c.2524G>A (p.E842K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947373" "0" "30" "2" "163134090" "163134090" "subst" "0.00319881" "01804" "IFIH1_000003" "g.163134090C>A" "" "" "" "IFIH1(NM_022168.3):c.1879G>T (p.(Glu627Ter)), IFIH1(NM_022168.4):c.1879G>T (p.E627*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947374" "0" "50" "2" "163134176" "163134176" "subst" "6.26881E-5" "02325" "IFIH1_000032" "g.163134176C>T" "" "" "" "IFIH1(NM_022168.4):c.1793G>A (p.R598H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947375" "0" "50" "2" "163167340" "163167340" "subst" "2.03348E-5" "02325" "IFIH1_000044" "g.163167340C>G" "" "" "" "IFIH1(NM_022168.3):c.557G>C (p.(Arg186Pro)), IFIH1(NM_022168.4):c.557G>C (p.R186P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947376" "0" "50" "2" "163167398" "163167398" "subst" "0" "02325" "IFIH1_000113" "g.163167398G>T" "" "" "" "IFIH1(NM_022168.4):c.499C>A (p.L167I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974387" "0" "50" "2" "163123733" "163123733" "del" "0" "01804" "IFIH1_000092" "g.163123733del" "" "" "" "IFIH1(NM_022168.4):c.3055del (p.(Cys1019ValfsTer10)), IFIH1(NM_022168.4):c.3055delT (p.C1019Vfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974388" "0" "50" "2" "163124615" "163124615" "subst" "1.25393E-5" "02325" "IFIH1_000114" "g.163124615T>C" "" "" "" "IFIH1(NM_022168.4):c.2789A>G (p.N930S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974389" "0" "50" "2" "163128893" "163128893" "subst" "0.00020943" "01804" "IFIH1_000108" "g.163128893C>T" "" "" "" "IFIH1(NM_022168.4):c.2459G>A (p.(Arg820His), p.R820H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974390" "0" "50" "2" "163133194" "163133194" "subst" "0.00033559" "02325" "IFIH1_000030" "g.163133194T>C" "" "" "" "IFIH1(NM_022168.4):c.2304+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974391" "0" "30" "2" "163133396" "163133396" "subst" "0.00233326" "01804" "IFIH1_000011" "g.163133396G>A" "" "" "" "IFIH1(NM_022168.4):c.2105C>T (p.T702I, p.(Thr702Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974392" "0" "50" "2" "163133432" "163133435" "del" "0" "02325" "IFIH1_000115" "g.163133432_163133435del" "" "" "" "IFIH1(NM_022168.4):c.2071_2074delGCTG (p.A691Kfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974393" "0" "50" "2" "163133439" "163133439" "subst" "0" "01804" "IFIH1_000116" "g.163133439T>C" "" "" "" "IFIH1(NM_022168.3):c.2062A>G (p.(Lys688Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974394" "0" "50" "2" "163133953" "163133953" "del" "0.000348513" "01804" "IFIH1_000067" "g.163133953del" "" "" "" "IFIH1(NM_022168.4):c.2016del (p.(Asp673IlefsTer5)), IFIH1(NM_022168.4):c.2016delA (p.D673Ifs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974395" "0" "50" "2" "163138050" "163138050" "subst" "0.000146838" "01804" "IFIH1_000039" "g.163138050A>G" "" "" "" "IFIH1(NM_022168.4):c.1312T>C (p.S438P, p.(Ser438Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974396" "0" "30" "2" "163144674" "163144674" "subst" "0.000635552" "01804" "IFIH1_000016" "g.163144674G>T" "" "" "" "IFIH1(NM_022168.4):c.1066C>A (p.P356T, p.(Pro356Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985179" "0" "70" "2" "163133345" "163133345" "subst" "0" "03544" "IFIH1_000117" "g.163133345G>A" "" "" "" "" "" "Germline" "yes" "rs1576224269" "" "" "" "g.162276835G>A" "{CV:812530}" "pathogenic" "ACMG" "0000990002" "0" "70" "2" "163144725" "163144725" "subst" "0" "03544" "IFIH1_000118" "g.163144725C>T" "" "" "" "" "" "De novo" "-" "rs1314541924" "0" "" "" "g.162288215C>T" "{CV:1030801}" "likely pathogenic" "ACMG" "0000991709" "0" "50" "2" "163123803" "163123803" "dup" "0" "01804" "IFIH1_000119" "g.163123803dup" "" "" "" "IFIH1(NM_022168.3):c.2986dupA (p.(Thr996fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991710" "0" "30" "2" "163123856" "163123856" "subst" "0" "01804" "IFIH1_000120" "g.163123856C>G" "" "" "" "IFIH1(NM_022168.3):c.2932G>C (p.(Asp978His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991711" "0" "50" "2" "163124624" "163124624" "subst" "8.34543E-6" "01804" "IFIH1_000121" "g.163124624T>C" "" "" "" "IFIH1(NM_022168.3):c.2780A>G (p.(His927Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991712" "0" "30" "2" "163124782" "163124782" "subst" "1.24362E-5" "01804" "IFIH1_000122" "g.163124782C>G" "" "" "" "IFIH1(NM_022168.3):c.2622G>C (p.(Leu874Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991713" "0" "30" "2" "163128748" "163128748" "subst" "0" "01804" "IFIH1_000123" "g.163128748C>A" "" "" "" "IFIH1(NM_022168.3):c.2604G>T (p.(Glu868Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991714" "0" "30" "2" "163128833" "163128833" "subst" "0" "01804" "IFIH1_000124" "g.163128833A>G" "" "" "" "IFIH1(NM_022168.3):c.2519T>C (p.(Val840Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991715" "0" "50" "2" "163130342" "163130342" "subst" "2.48293E-5" "01804" "IFIH1_000060" "g.163130342C>T" "" "" "" "IFIH1(NM_022168.3):c.2417G>A (p.(Arg806His)), IFIH1(NM_022168.4):c.2417G>A (p.R806H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991716" "0" "30" "2" "163133207" "163133207" "subst" "4.49306E-5" "01804" "IFIH1_000085" "g.163133207G>A" "" "" "" "IFIH1(NM_022168.3):c.2294C>T (p.(Pro765Leu)), IFIH1(NM_022168.4):c.2294C>T (p.P765L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991717" "0" "50" "2" "163133342" "163133342" "subst" "0" "01804" "IFIH1_000125" "g.163133342C>G" "" "" "" "IFIH1(NM_022168.3):c.2159G>C (p.(Arg720Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991718" "0" "90" "2" "163133348" "163133348" "subst" "0" "02325" "IFIH1_000126" "g.163133348G>C" "" "" "" "IFIH1(NM_022168.4):c.2153C>G (p.S718*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000991719" "0" "50" "2" "163133977" "163133977" "subst" "0" "01804" "IFIH1_000127" "g.163133977C>A" "" "" "" "IFIH1(NM_022168.3):c.1992G>T (p.(Lys664Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991720" "0" "30" "2" "163137881" "163137881" "subst" "0.000508527" "02325" "IFIH1_000038" "g.163137881C>A" "" "" "" "IFIH1(NM_022168.4):c.1481G>T (p.G494V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991721" "0" "50" "2" "163138875" "163138875" "subst" "0" "01804" "IFIH1_000128" "g.163138875C>T" "" "" "" "IFIH1(NM_022168.3):c.1306+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991722" "0" "50" "2" "163138876" "163138876" "subst" "0" "01804" "IFIH1_000129" "g.163138876C>T" "" "" "" "IFIH1(NM_022168.3):c.1306G>A (p.(Asp436Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991723" "0" "50" "2" "163138888" "163138888" "subst" "0" "01804" "IFIH1_000096" "g.163138888C>A" "" "" "" "IFIH1(NM_022168.3):c.1294G>T (p.(Val432Phe)), IFIH1(NM_022168.4):c.1294G>T (p.V432F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991724" "0" "30" "2" "163138923" "163138923" "subst" "3.26725E-5" "01804" "IFIH1_000130" "g.163138923G>A" "" "" "" "IFIH1(NM_022168.3):c.1259C>T (p.(Ser420Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991725" "0" "30" "2" "163139030" "163139030" "subst" "1.6378E-5" "01804" "IFIH1_000040" "g.163139030C>T" "" "" "" "IFIH1(NM_022168.3):c.1152G>A (p.(Trp384*)), IFIH1(NM_022168.4):c.1152G>A (p.W384*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991726" "0" "30" "2" "163144647" "163144647" "subst" "0.000518659" "01804" "IFIH1_000076" "g.163144647T>C" "" "" "" "IFIH1(NM_022168.3):c.1093A>G (p.(Lys365Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991727" "0" "30" "2" "163144689" "163144689" "subst" "2.44343E-5" "01804" "IFIH1_000131" "g.163144689T>C" "" "" "" "IFIH1(NM_022168.3):c.1051A>G (p.(Lys351Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991728" "0" "50" "2" "163167392" "163167392" "subst" "8.13709E-6" "01804" "IFIH1_000058" "g.163167392T>A" "" "" "" "IFIH1(NM_022168.3):c.505A>T (p.(Lys169*)), IFIH1(NM_022168.4):c.505A>T (p.K169*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991729" "0" "50" "2" "163174640" "163174640" "subst" "0" "01804" "GCA_000010" "g.163174640C>T" "" "" "" "IFIH1(NM_022168.3):c.178G>A (p.(Glu60Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991730" "0" "50" "2" "163174709" "163174709" "subst" "0" "01804" "GCA_000011" "g.163174709A>G" "" "" "" "IFIH1(NM_022168.3):c.109T>C (p.(Phe37Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991731" "0" "50" "2" "163174808" "163174808" "del" "0" "01804" "GCA_000012" "g.163174808del" "" "" "" "IFIH1(NM_022168.3):c.12delG (p.(Tyr5fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013394" "0" "50" "2" "163134822" "163134822" "subst" "4.38978E-6" "02325" "IFIH1_000132" "g.163134822T>A" "" "" "" "IFIH1(NM_022168.4):c.1658A>T (p.K553I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032450" "0" "30" "2" "163128883" "163128883" "subst" "0.0235523" "01804" "IFIH1_000107" "g.163128883G>A" "" "" "" "IFIH1(NM_022168.4):c.2469C>T (p.(Ala823=), p.A823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032451" "0" "30" "2" "163128904" "163128904" "subst" "0.00501881" "01804" "IFIH1_000133" "g.163128904A>T" "" "" "" "IFIH1(NM_022168.4):c.2455-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032452" "0" "30" "2" "163130299" "163130299" "subst" "0.00531899" "01804" "IFIH1_000134" "g.163130299A>G" "" "" "" "IFIH1(NM_022168.4):c.2454+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032453" "0" "30" "2" "163130356" "163130356" "subst" "0" "01804" "IFIH1_000135" "g.163130356A>G" "" "" "" "IFIH1(NM_022168.4):c.2403T>C (p.(Cys801=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032454" "0" "30" "2" "163130429" "163130429" "subst" "8.2272E-6" "01804" "IFIH1_000051" "g.163130429T>C" "" "" "" "IFIH1(NM_022168.4):c.2330A>G (p.(Lys777Arg), p.K777R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032455" "0" "50" "2" "163133270" "163133270" "subst" "0" "01804" "IFIH1_000136" "g.163133270A>G" "" "" "" "IFIH1(NM_022168.4):c.2231T>C (p.(Phe744Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032456" "0" "50" "2" "163174504" "163174504" "subst" "0" "02325" "GCA_000013" "g.163174504G>A" "" "" "" "IFIH1(NM_022168.4):c.314C>T (p.P105L)" "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 IFIH1 ## Count = 218 "{{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}}" "0000058540" "00009811" "00" "2465" "0" "2465" "0" "c.2465G>A" "r.(?)" "p.(Arg822Gln)" "13" "0000058541" "00009811" "90" "2465" "0" "2465" "0" "c.2465G>A" "r.(?)" "p.(Arg822Gln)" "13" "0000058542" "00009811" "90" "2465" "0" "2465" "0" "c.2465G>A" "r.(?)" "p.(Arg822Gln)" "13" "0000079254" "00009811" "00" "2807" "1" "2807" "1" "c.2807+1G>A" "r.spl?" "p.?" "" "0000079255" "00009811" "00" "2807" "1" "2807" "1" "c.2807+1G>A" "r.spl?" "p.?" "" "0000079256" "00009811" "00" "2807" "1" "2807" "1" "c.2807+1G>A" "r.spl?" "p.?" "" "0000079282" "00009811" "00" "1879" "0" "1879" "0" "c.1879G>T" "r.(?)" "p.(Glu627*)" "" "0000079283" "00009811" "00" "1879" "0" "1879" "0" "c.1879G>T" "r.(?)" "p.(Glu627*)" "" "0000079284" "00009811" "00" "1879" "0" "1879" "0" "c.1879G>T" "r.(?)" "p.(Glu627*)" "" "0000179029" "00009811" "90" "2336" "0" "2336" "0" "c.2336G>A" "r.(?)" "p.(Arg779His)" "" "0000256607" "00009811" "50" "1097" "0" "1097" "0" "c.1097T>A" "r.(?)" "p.(Val366Glu)" "" "0000285160" "00009811" "30" "1723" "0" "1723" "0" "c.1723A>G" "r.(?)" "p.(Thr575Ala)" "" "0000289404" "00009811" "10" "1046" "0" "1046" "0" "c.1046A>G" "r.(?)" "p.(Lys349Arg)" "" "0000289405" "00009811" "30" "1066" "0" "1066" "0" "c.1066C>A" "r.(?)" "p.(Pro356Thr)" "" "0000289406" "00009811" "30" "1432" "0" "1432" "0" "c.1432G>A" "r.(?)" "p.(Val478Met)" "" "0000289407" "00009811" "50" "1641" "1" "1641" "1" "c.1641+1G>C" "r.spl?" "p.?" "" "0000289408" "00009811" "30" "1879" "0" "1879" "0" "c.1879G>T" "r.(?)" "p.(Glu627Ter)" "" "0000289409" "00009811" "30" "2105" "0" "2105" "0" "c.2105C>T" "r.(?)" "p.(Thr702Ile)" "" "0000289410" "00009811" "30" "2199" "0" "2199" "0" "c.2199G>T" "r.(?)" "p.(Ala733=)" "" "0000289411" "00009811" "90" "2317" "0" "2317" "0" "c.2317G>T" "r.(?)" "p.(Glu773Ter)" "" "0000289412" "00009811" "50" "2472" "0" "2472" "0" "c.2472A>C" "r.(?)" "p.(Arg824Ser)" "" "0000289413" "00009811" "30" "2490" "0" "2490" "0" "c.2490C>T" "r.(?)" "p.(Tyr830=)" "" "0000289414" "00009811" "50" "2597" "0" "2597" "0" "c.2597C>T" "r.(?)" "p.(Pro866Leu)" "" "0000289415" "00009811" "30" "2946" "0" "2946" "0" "c.2946C>T" "r.(?)" "p.(Leu982=)" "" "0000289416" "00009811" "30" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Cys)" "" "0000343305" "00009811" "90" "2159" "0" "2159" "0" "c.2159G>A" "r.(?)" "p.(Arg720Gln)" "" "0000343355" "00009811" "90" "2335" "0" "2335" "0" "c.2335C>T" "r.(?)" "p.(Arg779Cys)" "" "0000357718" "00009811" "70" "2544" "0" "2544" "0" "c.2544T>G" "r.(?)" "p.(Asp848Glu)" "" "0000509745" "00009811" "50" "2962" "0" "2962" "0" "c.2962G>T" "r.(?)" "p.(Val988Leu)" "" "0000509746" "00009811" "30" "2867" "0" "2867" "0" "c.2867T>C" "r.(?)" "p.(Ile956Thr)" "" "0000509747" "00009811" "30" "2863" "0" "2863" "0" "c.2863C>G" "r.(?)" "p.(Gln955Glu)" "" "0000509748" "00009811" "30" "2863" "0" "2863" "0" "c.2863C>G" "r.(?)" "p.(Gln955Glu)" "" "0000509749" "00009811" "30" "2863" "0" "2863" "0" "c.2863C>G" "r.(?)" "p.(Gln955Glu)" "" "0000509750" "00009811" "50" "2785" "0" "2785" "0" "c.2785G>A" "r.(?)" "p.(Val929Ile)" "" "0000509751" "00009811" "30" "2767" "0" "2767" "0" "c.2767A>G" "r.(?)" "p.(Ile923Val)" "" "0000509752" "00009811" "30" "2597" "0" "2597" "0" "c.2597C>T" "r.(?)" "p.(Pro866Leu)" "" "0000509753" "00009811" "90" "2465" "0" "2465" "0" "c.2465G>A" "r.(?)" "p.(Arg822Gln)" "" "0000509754" "00009811" "50" "2304" "3" "2304" "3" "c.2304+3A>G" "r.spl?" "p.?" "" "0000509755" "00009811" "30" "2196" "0" "2196" "0" "c.2196T>C" "r.(?)" "p.(Tyr732=)" "" "0000509756" "00009811" "30" "1879" "0" "1879" "0" "c.1879G>T" "r.(?)" "p.(Glu627Ter)" "" "0000509757" "00009811" "50" "1793" "0" "1793" "0" "c.1793G>A" "r.(?)" "p.(Arg598His)" "" "0000509758" "00009811" "50" "1764" "0" "1764" "0" "c.1764dup" "r.(?)" "p.(Ala589SerfsTer21)" "" "0000509759" "00009811" "30" "1642" "-8" "1642" "-8" "c.1642-8A>G" "r.(=)" "p.(=)" "" "0000509760" "00009811" "30" "1641" "1" "1641" "1" "c.1641+1G>C" "r.spl?" "p.?" "" "0000509761" "00009811" "50" "1603" "0" "1603" "0" "c.1603C>G" "r.(?)" "p.(Pro535Ala)" "" "0000509762" "00009811" "30" "1583" "0" "1583" "0" "c.1583T>G" "r.(?)" "p.(Leu528Arg)" "" "0000509763" "00009811" "30" "1527" "0" "1527" "0" "c.1527A>G" "r.(?)" "p.(Leu509=)" "" "0000509764" "00009811" "30" "1481" "0" "1481" "0" "c.1481G>T" "r.(?)" "p.(Gly494Val)" "" "0000509765" "00009811" "30" "1312" "0" "1312" "0" "c.1312T>C" "r.(?)" "p.(Ser438Pro)" "" "0000509766" "00009811" "30" "1312" "0" "1312" "0" "c.1312T>C" "r.(?)" "p.(Ser438Pro)" "" "0000509767" "00009811" "50" "1152" "0" "1152" "0" "c.1152G>A" "r.(?)" "p.(Trp384Ter)" "" "0000509768" "00009811" "30" "1121" "0" "1121" "0" "c.1121G>A" "r.(?)" "p.(Arg374His)" "" "0000509769" "00009811" "30" "1046" "0" "1046" "0" "c.1046A>G" "r.(?)" "p.(Lys349Arg)" "" "0000509770" "00009811" "50" "937" "0" "937" "0" "c.937del" "r.(?)" "p.(Met313TrpfsTer35)" "" "0000509771" "00009811" "30" "769" "10" "769" "10" "c.769+10dup" "r.(=)" "p.(=)" "" "0000509772" "00009811" "30" "557" "0" "557" "0" "c.557G>C" "r.(?)" "p.(Arg186Pro)" "" "0000509773" "00009811" "30" "557" "0" "557" "0" "c.557G>C" "r.(?)" "p.(Arg186Pro)" "" "0000509774" "00009811" "30" "527" "0" "527" "0" "c.527A>G" "r.(?)" "p.(Asn176Ser)" "" "0000509775" "00009811" "30" "478" "0" "478" "0" "c.478A>G" "r.(?)" "p.(Asn160Asp)" "" "0000509776" "00009811" "50" "454" "-1" "454" "-1" "c.454-1G>T" "r.spl?" "p.?" "" "0000509777" "00009811" "30" "436" "0" "436" "0" "c.436A>G" "r.(?)" "p.(Ile146Val)" "" "0000509778" "00009811" "30" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Leu143=)" "" "0000509779" "00009811" "30" "299" "0" "299" "0" "c.299C>G" "r.(?)" "p.(Thr100Arg)" "" "0000509781" "00009811" "10" "258" "0" "258" "0" "c.258C>G" "r.(?)" "p.(Thr86=)" "" "0000606172" "00009811" "30" "2899" "-4" "2899" "-4" "c.2899-4C>T" "r.spl?" "p.?" "" "0000606173" "00009811" "50" "2716" "0" "2716" "0" "c.2716C>T" "r.(?)" "p.(Leu906Phe)" "" "0000606174" "00009811" "70" "2465" "0" "2465" "0" "c.2465G>A" "r.(?)" "p.(Arg822Gln)" "" "0000606175" "00009811" "50" "2330" "0" "2330" "0" "c.2330A>G" "r.(?)" "p.(Lys777Arg)" "" "0000606176" "00009811" "50" "1095" "1" "1095" "1" "c.1095+1G>A" "r.spl?" "p.?" "" "0000606177" "00009811" "70" "1018" "0" "1018" "0" "c.1018G>C" "r.(?)" "p.(Val340Leu)" "" "0000606178" "00009811" "50" "62" "0" "62" "0" "c.62G>T" "r.(?)" "p.(Arg21Met)" "" "0000620756" "00009811" "30" "2361" "0" "2361" "0" "c.2361C>T" "r.(?)" "p.(Ile787=)" "" "0000620757" "00009811" "30" "1641" "1" "1641" "1" "c.1641+1G>C" "r.spl?" "p.?" "" "0000650157" "00009811" "10" "2807" "1" "2807" "1" "c.2807+1G>A" "r.spl?" "p.?" "" "0000650158" "00009811" "10" "2767" "0" "2767" "0" "c.2767A>G" "r.(?)" "p.(Ile923Val)" "" "0000650159" "00009811" "30" "1879" "0" "1879" "0" "c.1879G>T" "r.(?)" "p.(Glu627*)" "" "0000654233" "00009811" "30" "2962" "0" "2962" "0" "c.2962G>T" "r.(?)" "p.(Val988Leu)" "" "0000654234" "00009811" "30" "2454" "9" "2454" "9" "c.2454+9A>G" "r.(=)" "p.(=)" "" "0000669522" "00009811" "10" "2807" "1" "2807" "1" "c.2807+1G>A" "r.spl?" "p.?" "" "0000676060" "00009811" "30" "2362" "0" "2362" "0" "c.2362G>A" "r.(?)" "p.(Ala788Thr)" "" "0000676061" "00009811" "50" "2036" "0" "2036" "0" "c.2036dup" "r.(?)" "p.(Leu679PhefsTer4)" "" "0000676062" "00009811" "50" "1552" "0" "1552" "0" "c.1552A>G" "r.(?)" "p.(Ile518Val)" "" "0000676063" "00009811" "70" "505" "0" "505" "0" "c.505A>T" "r.(?)" "p.(Lys169Ter)" "" "0000688357" "00009811" "50" "2862" "0" "2862" "0" "c.2862T>G" "r.(?)" "p.(Tyr954Ter)" "" "0000688358" "00009811" "50" "2417" "0" "2417" "0" "c.2417G>A" "r.(?)" "p.(Arg806His)" "" "0000688359" "00009811" "50" "1787" "0" "1797" "0" "c.1787_1797del" "r.(?)" "p.(Lys596MetfsTer10)" "" "0000717912" "00009811" "30" "2919" "0" "2919" "0" "c.2919G>C" "r.(?)" "p.(Val973=)" "" "0000717913" "00009811" "50" "2464" "0" "2464" "0" "c.2464C>T" "r.(?)" "p.(Arg822*)" "" "0000717914" "00009811" "50" "2317" "0" "2317" "0" "c.2317del" "r.(?)" "p.(Glu773Lysfs*11)" "" "0000717915" "00009811" "50" "2316" "0" "2316" "0" "c.2316A>T" "r.(?)" "p.(Lys772Asn)" "" "0000717916" "00009811" "50" "2198" "0" "2198" "0" "c.2198C>T" "r.(?)" "p.(Ala733Val)" "" "0000717917" "00009811" "30" "2016" "0" "2016" "0" "c.2016del" "r.(?)" "p.(Asp673Ilefs*5)" "" "0000717918" "00009811" "30" "1641" "1" "1641" "1" "c.1641+1G>C" "r.spl?" "p.?" "" "0000717919" "00009811" "30" "1498" "0" "1498" "0" "c.1498G>A" "r.(?)" "p.(Ala500Thr)" "" "0000717920" "00009811" "30" "478" "0" "478" "0" "c.478A>G" "r.(?)" "p.(Asn160Asp)" "" "0000717921" "00009811" "50" "389" "0" "389" "0" "c.389T>C" "r.(?)" "p.(Leu130Pro)" "" "0000717922" "00009811" "30" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Arg77Trp)" "" "0000733948" "00009811" "50" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Arg77Trp)" "" "0000733994" "00009811" "50" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Arg77Trp)" "" "0000734051" "00009811" "50" "1516" "0" "1516" "0" "c.1516A>G" "r.(?)" "p.(Ile506Val)" "" "0000734144" "00009811" "50" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Pro379Ser)" "" "0000734148" "00009811" "50" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Arg77Trp)" "" "0000734187" "00009811" "50" "2115" "0" "2115" "0" "c.2115A>C" "r.(?)" "p.(Arg705Ser)" "" "0000734314" "00009811" "50" "1516" "0" "1516" "0" "c.1516A>G" "r.(?)" "p.(Ile506Val)" "" "0000734431" "00009811" "50" "1943" "0" "1943" "0" "c.1943del" "r.(?)" "p.(Gly648Valfs*16)" "" "0000734506" "00009811" "50" "1899" "0" "1899" "0" "c.1899G>T" "r.(?)" "p.(Glu633Asp)" "" "0000734511" "00009811" "50" "2807" "1" "2807" "1" "c.2807+1G>A" "r.spl?" "p.?" "" "0000734578" "00009811" "50" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Gly163Ser)" "" "0000735080" "00009811" "50" "1041" "0" "1041" "0" "c.1041A>C" "r.(?)" "p.(Leu347Phe)" "" "0000735270" "00009811" "50" "2617" "-2" "2617" "-2" "c.2617-2A>C" "r.spl?" "p.?" "" "0000735420" "00009811" "50" "2232" "0" "2232" "0" "c.2232T>A" "r.(?)" "p.(Phe744Leu)" "" "0000735443" "00009811" "50" "2232" "0" "2232" "0" "c.2232T>A" "r.(?)" "p.(Phe744Leu)" "" "0000735533" "00009811" "50" "1093" "0" "1093" "0" "c.1093A>G" "r.(?)" "p.(Lys365Glu)" "" "0000759814" "00009811" "90" "1850" "0" "1850" "0" "c.1850T>C" "r.(?)" "p.(Ile617Thr)" "" "0000787304" "00009811" "50" "281" "0" "281" "0" "c.281A>G" "r.(?)" "p.(Tyr94Cys)" "1" "0000787305" "00009811" "50" "1652" "0" "1652" "0" "c.1652A>C" "r.(?)" "p.(Lys551Thr)" "9" "0000787306" "00009811" "50" "2642" "0" "2642" "0" "c.2642T>A" "r.(?)" "p.(Ile881Lys)" "14" "0000787307" "00009811" "50" "2784" "0" "2784" "0" "c.2784C>G" "r.(?)" "p.(His928Gln)" "14" "0000787454" "00009811" "50" "1433" "0" "1433" "0" "c.1433T>C" "r.(?)" "p.(Val478Ala)" "7" "0000788606" "00009811" "90" "2390" "0" "2390" "0" "c.2390A>T" "r.(?)" "p.(Asp797Val)" "12" "0000799744" "00009811" "50" "2417" "0" "2417" "0" "c.2417G>A" "r.(?)" "p.(Arg806His)" "" "0000799745" "00009811" "50" "2294" "0" "2294" "0" "c.2294C>T" "r.(?)" "p.(Pro765Leu)" "" "0000799746" "00009811" "30" "1583" "0" "1583" "0" "c.1583T>G" "r.(?)" "p.(Leu528Arg)" "" "0000799747" "00009811" "30" "1066" "0" "1066" "0" "c.1066C>A" "r.(?)" "p.(Pro356Thr)" "" "0000799748" "00009811" "50" "694" "0" "704" "0" "c.694_704del" "r.(?)" "p.(Asn232Glyfs*8)" "" "0000848993" "00009811" "30" "2105" "0" "2105" "0" "c.2105C>T" "r.(?)" "p.(Thr702Ile)" "" "0000848994" "00009811" "50" "1879" "0" "1879" "0" "c.1879G>T" "r.(?)" "p.(Glu627Ter)" "" "0000848995" "00009811" "50" "1271" "0" "1271" "0" "c.1271del" "r.(?)" "p.(Leu424Trpfs*35)" "" "0000848996" "00009811" "30" "177" "0" "177" "0" "c.177T>C" "r.(?)" "p.(Val59=)" "" "0000857795" "00009811" "10" "2807" "1" "2807" "1" "c.2807+1G>A" "r.spl?" "p.?" "" "0000857796" "00009811" "30" "2682" "0" "2682" "0" "c.2682G>A" "r.(?)" "p.(Lys894=)" "" "0000857797" "00009811" "30" "2682" "0" "2682" "0" "c.2682G>A" "r.(?)" "p.(Lys894=)" "" "0000857798" "00009811" "50" "2524" "0" "2524" "0" "c.2524G>A" "r.(?)" "p.(Glu842Lys)" "" "0000857799" "00009811" "50" "2435" "0" "2435" "0" "c.2435A>G" "r.(?)" "p.(Asn812Ser)" "" "0000857800" "00009811" "50" "2017" "0" "2017" "0" "c.2017G>A" "r.(?)" "p.(Asp673Asn)" "" "0000857801" "00009811" "30" "1879" "0" "1879" "0" "c.1879G>T" "r.(?)" "p.(Glu627Ter)" "" "0000857802" "00009811" "30" "1642" "-8" "1642" "-8" "c.1642-8A>G" "r.(=)" "p.(=)" "" "0000883812" "00009811" "50" "3055" "0" "3055" "0" "c.3055del" "r.(?)" "p.(Cys1019Valfs*10)" "" "0000883813" "00009811" "30" "2946" "0" "2946" "0" "c.2946C>T" "r.(?)" "p.(Leu982=)" "" "0000883814" "00009811" "30" "2898" "17" "2898" "17" "c.2898+17G>A" "r.(=)" "p.(=)" "" "0000883815" "00009811" "50" "2807" "1" "2807" "1" "c.2807+1G>A" "r.spl?" "p.?" "" "0000883816" "00009811" "50" "2115" "0" "2115" "0" "c.2115A>C" "r.(?)" "p.(Arg705Ser)" "" "0000883817" "00009811" "50" "1886" "0" "1886" "0" "c.1886T>C" "r.(?)" "p.(Phe629Ser)" "" "0000883818" "00009811" "30" "1710" "0" "1710" "0" "c.1710G>A" "r.(?)" "p.(Met570Ile)" "" "0000883819" "00009811" "50" "1294" "0" "1294" "0" "c.1294G>T" "r.(?)" "p.(Val432Phe)" "" "0000883820" "00009811" "30" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Arg77Trp)" "" "0000908995" "00009811" "70" "1358" "0" "1358" "0" "c.1358T>C" "r.(?)" "p.(Val453Ala)" "" "0000911208" "00009811" "30" "2919" "0" "2919" "0" "c.2919G>C" "r.(?)" "p.(Val973=)" "" "0000911209" "00009811" "10" "2836" "0" "2836" "0" "c.2836G>A" "r.(?)" "p.(Ala946Thr)" "" "0000911210" "00009811" "10" "2767" "0" "2767" "0" "c.2767A>G" "r.(?)" "p.(Ile923Val)" "" "0000911211" "00009811" "10" "2528" "0" "2528" "0" "c.2528A>G" "r.(?)" "p.(His843Arg)" "" "0000911212" "00009811" "50" "2525" "0" "2525" "0" "c.2525A>T" "r.(?)" "p.(Glu842Val)" "" "0000911213" "00009811" "50" "2212" "0" "2212" "0" "c.2212A>G" "r.(?)" "p.(Ile738Val)" "" "0000911214" "00009811" "50" "2017" "0" "2017" "0" "c.2017G>A" "r.(?)" "p.(Asp673Asn)" "" "0000911215" "00009811" "50" "1625" "0" "1625" "0" "c.1625C>A" "r.(?)" "p.(Ala542Glu)" "" "0000911216" "00009811" "50" "1243" "0" "1243" "0" "c.1243C>A" "r.(?)" "p.(Gln415Lys)" "" "0000911217" "00009811" "50" "454" "-1" "454" "-1" "c.454-1G>T" "r.spl?" "p.?" "" "0000920284" "00009811" "50" "2549" "0" "2549" "0" "c.2549G>A" "r.(?)" "p.(Arg850Gln)" "13" "0000923315" "00009811" "30" "2784" "0" "2784" "0" "c.2784C>T" "r.(?)" "p.(His928=)" "" "0000923316" "00009811" "10" "2616" "11" "2616" "11" "c.2616+11T>C" "r.(=)" "p.(=)" "" "0000923317" "00009811" "10" "2469" "0" "2469" "0" "c.2469C>T" "r.(?)" "p.(Ala823=)" "" "0000923318" "00009811" "50" "2459" "0" "2459" "0" "c.2459G>A" "r.(?)" "p.(Arg820His)" "" "0000923319" "00009811" "10" "1491" "0" "1491" "0" "c.1491G>C" "r.(?)" "p.(Thr497=)" "" "0000923320" "00009811" "10" "1379" "0" "1379" "0" "c.1379A>G" "r.(?)" "p.(His460Arg)" "" "0000923321" "00009811" "10" "1046" "0" "1046" "0" "c.1046A>G" "r.(?)" "p.(Lys349Arg)" "" "0000928287" "00009811" "30" "2807" "1" "2807" "1" "c.2807+1G>A" "r.spl?" "p.?" "" "0000928288" "00009811" "70" "1764" "0" "1764" "0" "c.1764dup" "r.(?)" "p.(Ala589SerfsTer21)" "" "0000928289" "00009811" "50" "1694" "0" "1694" "0" "c.1694G>T" "r.(?)" "p.(Cys565Phe)" "" "0000928290" "00009811" "50" "454" "-1" "454" "-1" "c.454-1G>T" "r.spl?" "p.?" "" "0000946010" "00009811" "90" "2335" "0" "2335" "0" "c.2335C>T" "r.(?)" "p.(Arg779Cys)" "" "0000947372" "00009811" "50" "2524" "0" "2524" "0" "c.2524G>A" "r.(?)" "p.(Glu842Lys)" "" "0000947373" "00009811" "30" "1879" "0" "1879" "0" "c.1879G>T" "r.(?)" "p.(Glu627Ter)" "" "0000947374" "00009811" "50" "1793" "0" "1793" "0" "c.1793G>A" "r.(?)" "p.(Arg598His)" "" "0000947375" "00009811" "50" "557" "0" "557" "0" "c.557G>C" "r.(?)" "p.(Arg186Pro)" "" "0000947376" "00009811" "50" "499" "0" "499" "0" "c.499C>A" "r.(?)" "p.(Leu167Ile)" "" "0000974387" "00009811" "50" "3055" "0" "3055" "0" "c.3055del" "r.(?)" "p.(Cys1019Valfs*10)" "" "0000974388" "00009811" "50" "2789" "0" "2789" "0" "c.2789A>G" "r.(?)" "p.(Asn930Ser)" "" "0000974389" "00009811" "50" "2459" "0" "2459" "0" "c.2459G>A" "r.(?)" "p.(Arg820His)" "" "0000974390" "00009811" "50" "2304" "3" "2304" "3" "c.2304+3A>G" "r.spl?" "p.?" "" "0000974391" "00009811" "30" "2105" "0" "2105" "0" "c.2105C>T" "r.(?)" "p.(Thr702Ile)" "" "0000974392" "00009811" "50" "2071" "0" "2074" "0" "c.2071_2074del" "r.(?)" "p.(Ala691Lysfs*10)" "" "0000974393" "00009811" "50" "2062" "0" "2062" "0" "c.2062A>G" "r.(?)" "p.(Lys688Glu)" "" "0000974394" "00009811" "50" "2016" "0" "2016" "0" "c.2016del" "r.(?)" "p.(Asp673Ilefs*5)" "" "0000974395" "00009811" "50" "1312" "0" "1312" "0" "c.1312T>C" "r.(?)" "p.(Ser438Pro)" "" "0000974396" "00009811" "30" "1066" "0" "1066" "0" "c.1066C>A" "r.(?)" "p.(Pro356Thr)" "" "0000985179" "00009811" "70" "2156" "0" "2156" "0" "c.2156C>T" "r.(?)" "p.(Ala719Val)" "11" "0000990002" "00009811" "70" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Ala339Thr)" "5" "0000991709" "00009811" "50" "2986" "0" "2986" "0" "c.2986dup" "r.(?)" "p.(Thr996Asnfs*19)" "" "0000991710" "00009811" "30" "2932" "0" "2932" "0" "c.2932G>C" "r.(?)" "p.(Asp978His)" "" "0000991711" "00009811" "50" "2780" "0" "2780" "0" "c.2780A>G" "r.(?)" "p.(His927Arg)" "" "0000991712" "00009811" "30" "2622" "0" "2622" "0" "c.2622G>C" "r.(?)" "p.(Leu874Phe)" "" "0000991713" "00009811" "30" "2604" "0" "2604" "0" "c.2604G>T" "r.(?)" "p.(Glu868Asp)" "" "0000991714" "00009811" "30" "2519" "0" "2519" "0" "c.2519T>C" "r.(?)" "p.(Val840Ala)" "" "0000991715" "00009811" "50" "2417" "0" "2417" "0" "c.2417G>A" "r.(?)" "p.(Arg806His)" "" "0000991716" "00009811" "30" "2294" "0" "2294" "0" "c.2294C>T" "r.(?)" "p.(Pro765Leu)" "" "0000991717" "00009811" "50" "2159" "0" "2159" "0" "c.2159G>C" "r.(?)" "p.(Arg720Pro)" "" "0000991718" "00009811" "90" "2153" "0" "2153" "0" "c.2153C>G" "r.(?)" "p.(Ser718*)" "" "0000991719" "00009811" "50" "1992" "0" "1992" "0" "c.1992G>T" "r.(?)" "p.(Lys664Asn)" "" "0000991720" "00009811" "30" "1481" "0" "1481" "0" "c.1481G>T" "r.(?)" "p.(Gly494Val)" "" "0000991721" "00009811" "50" "1306" "1" "1306" "1" "c.1306+1G>A" "r.spl?" "p.?" "" "0000991722" "00009811" "50" "1306" "0" "1306" "0" "c.1306G>A" "r.(?)" "p.(Asp436Asn)" "" "0000991723" "00009811" "50" "1294" "0" "1294" "0" "c.1294G>T" "r.(?)" "p.(Val432Phe)" "" "0000991724" "00009811" "30" "1259" "0" "1259" "0" "c.1259C>T" "r.(?)" "p.(Ser420Phe)" "" "0000991725" "00009811" "30" "1152" "0" "1152" "0" "c.1152G>A" "r.(?)" "p.(Trp384Ter)" "" "0000991726" "00009811" "30" "1093" "0" "1093" "0" "c.1093A>G" "r.(?)" "p.(Lys365Glu)" "" "0000991727" "00009811" "30" "1051" "0" "1051" "0" "c.1051A>G" "r.(?)" "p.(Lys351Glu)" "" "0000991728" "00009811" "50" "505" "0" "505" "0" "c.505A>T" "r.(?)" "p.(Lys169Ter)" "" "0000991729" "00009811" "50" "178" "0" "178" "0" "c.178G>A" "r.(?)" "p.(Glu60Lys)" "" "0000991730" "00009811" "50" "109" "0" "109" "0" "c.109T>C" "r.(?)" "p.(Phe37Leu)" "" "0000991731" "00009811" "50" "12" "0" "12" "0" "c.12del" "r.(?)" "p.(Tyr5Ilefs*18)" "" "0001013394" "00009811" "50" "1658" "0" "1658" "0" "c.1658A>T" "r.(?)" "p.(Lys553Ile)" "" "0001032450" "00009811" "30" "2469" "0" "2469" "0" "c.2469C>T" "r.(?)" "p.(Ala823=)" "" "0001032451" "00009811" "30" "2455" "-7" "2455" "-7" "c.2455-7T>A" "r.(=)" "p.(=)" "" "0001032452" "00009811" "30" "2454" "6" "2454" "6" "c.2454+6T>C" "r.(=)" "p.(=)" "" "0001032453" "00009811" "30" "2403" "0" "2403" "0" "c.2403T>C" "r.(?)" "p.(=)" "" "0001032454" "00009811" "30" "2330" "0" "2330" "0" "c.2330A>G" "r.(?)" "p.(Lys777Arg)" "" "0001032455" "00009811" "50" "2231" "0" "2231" "0" "c.2231T>C" "r.(?)" "p.(Phe744Ser)" "" "0001032456" "00009811" "50" "314" "0" "314" "0" "c.314C>T" "r.(?)" "p.(Pro105Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 43 "{{screeningid}}" "{{variantid}}" "0000032413" "0000058540" "0000032414" "0000058541" "0000032415" "0000058542" "0000050302" "0000079254" "0000050302" "0000079282" "0000050303" "0000079255" "0000050303" "0000079283" "0000050304" "0000079256" "0000050304" "0000079284" "0000111871" "0000179029" "0000155886" "0000357718" "0000293468" "0000650157" "0000293469" "0000650158" "0000293470" "0000650159" "0000305834" "0000669522" "0000335516" "0000733948" "0000335530" "0000733994" "0000335547" "0000734051" "0000335577" "0000734144" "0000335578" "0000734148" "0000335592" "0000734187" "0000335633" "0000734314" "0000335707" "0000734431" "0000335727" "0000734506" "0000335728" "0000734511" "0000335754" "0000734578" "0000336087" "0000735080" "0000336159" "0000735270" "0000336242" "0000735420" "0000336248" "0000735443" "0000336270" "0000735533" "0000360116" "0000759814" "0000375431" "0000787454" "0000375953" "0000787304" "0000375954" "0000787305" "0000375955" "0000787306" "0000375956" "0000787307" "0000376712" "0000788606" "0000429479" "0000908995" "0000434530" "0000920284" "0000444153" "0000946010" "0000451327" "0000985179" "0000455029" "0000990002"