### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCNJ11) # 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}}" "KCNJ11" "potassium inwardly-rectifying channel, subfamily J, member 11" "11" "p15.1" "unknown" "NG_012446.1" "UD_132118877787" "" "https://www.LOVD.nl/KCNJ11" "" "1" "6257" "3767" "600937" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/KCNJ11_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-01-09 15:42:27" "00000" "2025-07-08 13:22:38" ## 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}}" "00010380" "KCNJ11" "transcript variant 1" "002" "NM_000525.3" "" "NP_000516.3" "" "" "" "-568" "2844" "1173" "17410206" "17406795" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00151" "NIDDM" "diabetes mellitus, type II (NIDDM)" "AD" "125853" "" "" "" "00001" "2013-06-14 15:56:30" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00412" "diabetes" "diabetes" "" "" "" "" "" "00006" "2014-06-15 21:21:04" "" "" "01966" "HHF1" "hypoglycemia, hyperinsulinemic, familial, type 1(HHF-1)" "AD;AR" "256450" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02394" "HHF2" "hypoglycemia, hyperinsulinemic, familial, type 2 (HHF-2)" "AR" "601820" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02959" "TNMD3" "diabetes mellitus, transient neonatal, type 3 (TNMD-3)" "AD" "610582" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04542" "MODY13" "diabetes of the young, maturity-onset, type 13 (MODY-13)" "AD" "616329" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05615" "TNDM" "diabetes mellitus, transient neonatal (TNDM)" "" "" "" "" "" "00006" "2019-06-28 10:16:43" "" "" "06156" "PNDM2" "Diabetes, permanent neonatal 2, with or without neurologic features" "" "618856" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "KCNJ11" "00151" "KCNJ11" "02394" "KCNJ11" "02959" "KCNJ11" "04542" "KCNJ11" "05615" "KCNJ11" "06156" ## Individuals ## Do not remove or alter this header ## ## Count = 92 "{{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}}" "00213040" "" "" "" "1" "" "03151" "" "" "" "" "" "" "0" "" "" "" "" "00244510" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244511" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244512" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244513" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244514" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244515" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244516" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244517" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244518" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244519" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244520" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244521" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244522" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244523" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244524" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244525" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244526" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244527" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244528" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244529" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244530" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244531" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244532" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244533" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244534" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244535" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244536" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244537" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244538" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244539" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244540" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244541" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244542" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244543" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244544" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244545" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244546" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244547" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244548" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244549" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244550" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244551" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244552" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244553" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244554" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244555" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244556" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244557" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244558" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244559" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244560" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244561" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244562" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244563" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244564" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244565" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244566" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244567" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244568" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244569" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244570" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244571" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244572" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244573" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244574" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244575" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244576" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244577" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244578" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244579" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244580" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244581" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244582" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244583" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244584" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244585" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244586" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244587" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244588" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244589" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244590" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244591" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244592" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244593" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00290309" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295246" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305933" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "0" "" "" "" "31" "00306129" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "62" "00306217" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "119" "00320441" "" "" "" "1" "" "03946" "" "" "F" "" "France" "" "" "" "" "" "P5 in Saint-Martin et al" "00451442" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-030" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 92 "{{individualid}}" "{{diseaseid}}" "00213040" "04542" "00244510" "00412" "00244511" "00412" "00244512" "00412" "00244513" "00412" "00244514" "00412" "00244515" "00412" "00244516" "00412" "00244517" "00412" "00244518" "00412" "00244519" "00412" "00244520" "00412" "00244521" "00412" "00244522" "00412" "00244523" "00412" "00244524" "00412" "00244525" "00412" "00244526" "00412" "00244527" "00412" "00244528" "00412" "00244529" "00412" "00244530" "00412" "00244531" "00412" "00244532" "00412" "00244533" "00412" "00244534" "00412" "00244535" "00412" "00244536" "00412" "00244537" "00412" "00244538" "00412" "00244539" "00412" "00244540" "00412" "00244541" "00412" "00244542" "00412" "00244543" "00412" "00244544" "00412" "00244545" "00412" "00244546" "00412" "00244547" "00412" "00244548" "00412" "00244549" "00412" "00244550" "00412" "00244551" "00412" "00244552" "00412" "00244553" "00412" "00244554" "00412" "00244555" "00412" "00244556" "00412" "00244557" "00412" "00244558" "00412" "00244559" "00412" "00244560" "00412" "00244561" "00412" "00244562" "00412" "00244563" "00412" "00244564" "00412" "00244565" "00412" "00244566" "00412" "00244567" "00412" "00244568" "00412" "00244569" "00412" "00244570" "00412" "00244571" "00412" "00244572" "00412" "00244573" "00412" "00244574" "00412" "00244575" "00412" "00244576" "00412" "00244577" "00412" "00244578" "00412" "00244579" "00412" "00244580" "00412" "00244581" "00412" "00244582" "00412" "00244583" "00412" "00244584" "00412" "00244585" "00412" "00244586" "00412" "00244587" "00412" "00244588" "00412" "00244589" "00412" "00244590" "00412" "00244591" "00412" "00244592" "00412" "00244593" "00412" "00290309" "00198" "00295246" "00198" "00305933" "00198" "00306129" "02394" "00306217" "02394" "00320441" "01966" "00451442" "02394" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00151, 00198, 00412, 01966, 02394, 02959, 04542, 05615, 06156 ## Count = 90 "{{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}}" "0000161521" "04542" "00213040" "03151" "Unknown" "" "neonatal diabetes" "00y06m" "" "6m" "" "" "" "" "" "MODY-13" "MODY" "" "0000184476" "00412" "00244510" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "transient neonatal diabetes mellitus" "" "0000184477" "00412" "00244511" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "permanent neonatal diabetes mellitus" "" "0000184478" "00412" "00244512" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184479" "00412" "00244513" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184480" "00412" "00244514" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184481" "00412" "00244515" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184482" "00412" "00244516" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "transient neonatal diabetes mellitus" "" "0000184483" "00412" "00244517" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "permanent neonatal diabetes mellitus" "" "0000184484" "00412" "00244518" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism/diabetes" "" "0000184485" "00412" "00244519" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184486" "00412" "00244520" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184487" "00412" "00244521" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184488" "00412" "00244522" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184489" "00412" "00244523" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184490" "00412" "00244524" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184491" "00412" "00244525" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neonatal diabetes mellitus" "" "0000184492" "00412" "00244526" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "permanent neonatal diabetes mellitus" "" "0000184493" "00412" "00244527" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184494" "00412" "00244528" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "transient neonatal diabetes mellitus" "" "0000184495" "00412" "00244529" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism / diabetes" "" "0000184496" "00412" "00244530" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184497" "00412" "00244531" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184498" "00412" "00244532" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184499" "00412" "00244533" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184500" "00412" "00244534" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184501" "00412" "00244535" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184502" "00412" "00244536" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "transient neonatal diabetes mellitus" "" "0000184503" "00412" "00244537" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "transient neonatal diabetes mellitus" "" "0000184504" "00412" "00244538" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184505" "00412" "00244539" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "permanent neonatal diabetes mellitus" "" "0000184506" "00412" "00244540" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "permanent neonatal diabetes mellitus" "" "0000184507" "00412" "00244541" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "permanent neonatal diabetes mellitus" "" "0000184508" "00412" "00244542" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184509" "00412" "00244543" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184510" "00412" "00244544" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184511" "00412" "00244545" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184512" "00412" "00244546" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes / hyperinsulinism" "" "0000184513" "00412" "00244547" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neonatal diabetes mellitus" "" "0000184514" "00412" "00244548" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184515" "00412" "00244549" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184516" "00412" "00244550" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184517" "00412" "00244551" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184518" "00412" "00244552" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184519" "00412" "00244553" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184520" "00412" "00244554" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184521" "00412" "00244555" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184522" "00412" "00244556" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184523" "00412" "00244557" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neonatal diabetes mellitus" "" "0000184524" "00412" "00244558" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184525" "00412" "00244559" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184526" "00412" "00244560" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184527" "00412" "00244561" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184528" "00412" "00244562" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184529" "00412" "00244563" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184530" "00412" "00244564" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184531" "00412" "00244565" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184532" "00412" "00244566" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184533" "00412" "00244567" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184534" "00412" "00244568" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184535" "00412" "00244569" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184536" "00412" "00244570" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184537" "00412" "00244571" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184538" "00412" "00244572" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184539" "00412" "00244573" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184540" "00412" "00244574" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neonatal diabetes mellitus" "" "0000184541" "00412" "00244575" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184542" "00412" "00244576" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184543" "00412" "00244577" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184544" "00412" "00244578" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184545" "00412" "00244579" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neonatal diabetes mellitus" "" "0000184546" "00412" "00244580" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184547" "00412" "00244581" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184548" "00412" "00244582" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184549" "00412" "00244583" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184550" "00412" "00244584" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184551" "00412" "00244585" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184552" "00412" "00244586" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184553" "00412" "00244587" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neonatal diabetes mellitus" "" "0000184554" "00412" "00244588" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unaffected" "" "0000184555" "00412" "00244589" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184556" "00412" "00244590" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184557" "00412" "00244591" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184558" "00412" "00244592" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184559" "00412" "00244593" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000231783" "00198" "00305933" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes mellitus, permanent neonatal" "" "0000231972" "02394" "00306129" "03695" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000232066" "02394" "00306217" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242417" "01966" "00320441" "03946" "Isolated (sporadic)" "" "Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide" "" "" "" "" "" "" "" "" "" "" "" "0000340191" "02394" "00451442" "04221" "Familial, autosomal dominant" "" "Hypoglycemia" "" "04y04m" "" "" "" "" "" "" "Hyperinsulinemic hypoglycemia, familial, 2" "Hypoglycemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 92 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000214115" "00213040" "1" "03151" "03151" "2019-01-07 09:12:35" "" "" "SEQ" "DNA" "" "" "0000245622" "00244510" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245623" "00244511" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245624" "00244512" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245625" "00244513" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245626" "00244514" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245627" "00244515" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245628" "00244516" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245629" "00244517" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245630" "00244518" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245631" "00244519" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245632" "00244520" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245633" "00244521" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245634" "00244522" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245635" "00244523" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245636" "00244524" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245637" "00244525" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245638" "00244526" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245639" "00244527" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245640" "00244528" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245641" "00244529" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245642" "00244530" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245643" "00244531" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245644" "00244532" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245645" "00244533" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245646" "00244534" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245647" "00244535" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245648" "00244536" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245649" "00244537" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245650" "00244538" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245651" "00244539" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245652" "00244540" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245653" "00244541" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245654" "00244542" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245655" "00244543" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245656" "00244544" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245657" "00244545" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245658" "00244546" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245659" "00244547" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245660" "00244548" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245661" "00244549" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245662" "00244550" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245663" "00244551" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245664" "00244552" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245665" "00244553" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245666" "00244554" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245667" "00244555" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245668" "00244556" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245669" "00244557" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245670" "00244558" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245671" "00244559" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245672" "00244560" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245673" "00244561" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245674" "00244562" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245675" "00244563" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245676" "00244564" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245677" "00244565" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245678" "00244566" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245679" "00244567" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245680" "00244568" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245681" "00244569" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245682" "00244570" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245683" "00244571" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245684" "00244572" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245685" "00244573" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245686" "00244574" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245687" "00244575" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245688" "00244576" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245689" "00244577" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245690" "00244578" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245691" "00244579" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245692" "00244580" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245693" "00244581" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245694" "00244582" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245695" "00244583" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245696" "00244584" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245697" "00244585" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245698" "00244586" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245699" "00244587" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245700" "00244588" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245701" "00244589" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245702" "00244590" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245703" "00244591" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245704" "00244592" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245705" "00244593" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000291477" "00290309" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296414" "00295246" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307064" "00305933" "1" "03695" "03695" "2020-07-05 20:01:17" "" "" "SEQ-NG" "DNA" "" "" "0000307260" "00306129" "1" "03695" "03695" "2020-07-08 17:21:01" "" "" "SEQ-NG" "DNA" "" "" "0000307350" "00306217" "1" "03695" "03695" "2020-07-11 09:57:49" "" "" "SEQ-NG" "DNA" "" "" "0000321629" "00320441" "1" "03946" "03946" "2020-11-30 12:28:24" "" "" "SEQ" "DNA" "blood" "" "0000453042" "00451442" "1" "04221" "04221" "2024-06-04 02:00:01" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 91 "{{screeningid}}" "{{geneid}}" "0000214115" "KCNJ11" "0000245622" "KCNJ11" "0000245623" "KCNJ11" "0000245624" "KCNJ11" "0000245625" "KCNJ11" "0000245626" "KCNJ11" "0000245627" "KCNJ11" "0000245628" "KCNJ11" "0000245629" "KCNJ11" "0000245630" "KCNJ11" "0000245631" "KCNJ11" "0000245632" "KCNJ11" "0000245633" "KCNJ11" "0000245634" "KCNJ11" "0000245635" "KCNJ11" "0000245636" "KCNJ11" "0000245637" "KCNJ11" "0000245638" "KCNJ11" "0000245639" "KCNJ11" "0000245640" "KCNJ11" "0000245641" "KCNJ11" "0000245642" "KCNJ11" "0000245643" "KCNJ11" "0000245644" "KCNJ11" "0000245645" "KCNJ11" "0000245646" "KCNJ11" "0000245647" "KCNJ11" "0000245648" "KCNJ11" "0000245649" "KCNJ11" "0000245650" "KCNJ11" "0000245651" "KCNJ11" "0000245652" "KCNJ11" "0000245653" "KCNJ11" "0000245654" "KCNJ11" "0000245655" "KCNJ11" "0000245656" "KCNJ11" "0000245657" "KCNJ11" "0000245658" "KCNJ11" "0000245659" "KCNJ11" "0000245660" "KCNJ11" "0000245661" "KCNJ11" "0000245662" "KCNJ11" "0000245663" "KCNJ11" "0000245664" "KCNJ11" "0000245665" "KCNJ11" "0000245666" "KCNJ11" "0000245667" "KCNJ11" "0000245668" "KCNJ11" "0000245669" "KCNJ11" "0000245670" "KCNJ11" "0000245671" "KCNJ11" "0000245672" "KCNJ11" "0000245673" "KCNJ11" "0000245674" "KCNJ11" "0000245675" "KCNJ11" "0000245676" "KCNJ11" "0000245677" "KCNJ11" "0000245678" "KCNJ11" "0000245679" "KCNJ11" "0000245680" "KCNJ11" "0000245681" "KCNJ11" "0000245682" "KCNJ11" "0000245683" "KCNJ11" "0000245684" "KCNJ11" "0000245685" "KCNJ11" "0000245686" "KCNJ11" "0000245687" "KCNJ11" "0000245688" "KCNJ11" "0000245689" "KCNJ11" "0000245690" "KCNJ11" "0000245691" "KCNJ11" "0000245692" "KCNJ11" "0000245693" "KCNJ11" "0000245694" "KCNJ11" "0000245695" "KCNJ11" "0000245696" "KCNJ11" "0000245697" "KCNJ11" "0000245698" "KCNJ11" "0000245699" "KCNJ11" "0000245700" "KCNJ11" "0000245701" "KCNJ11" "0000245702" "KCNJ11" "0000245703" "KCNJ11" "0000245704" "KCNJ11" "0000245705" "KCNJ11" "0000307064" "KCNJ11" "0000307260" "KCNJ11" "0000307350" "KCNJ11" "0000321629" "ABCC8" "0000321629" "KCNJ11" "0000453042" "KCNJ11" ## 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 = 210 "{{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}}" "0000281716" "0" "10" "11" "17408630" "17408630" "subst" "0.636871" "02325" "KCNJ11_000005" "g.17408630C>T" "" "" "" "KCNJ11(NM_000525.4):c.1009G>A (p.V337I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17387083C>T" "" "benign" "" "0000281717" "0" "10" "11" "17409572" "17409572" "subst" "0.638793" "02325" "KCNJ11_000017" "g.17409572T>C" "" "" "" "KCNJ11(NM_000525.4):c.67A>G (p.K23E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17388025T>C" "" "benign" "" "0000281718" "0" "10" "11" "17408831" "17408831" "subst" "0.0410294" "02325" "KCNJ11_000009" "g.17408831G>C" "" "" "" "KCNJ11(NM_000525.3):c.808C>G (p.(Leu270Val), p.L270V), KCNJ11(NM_000525.4):c.808C>G (p.L270V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17387284G>C" "" "benign" "" "0000285517" "0" "30" "11" "17408838" "17408838" "subst" "0.0170144" "02326" "KCNJ11_000011" "g.17408838G>C" "" "" "" "KCNJ11(NM_000525.3):c.801C>G (p.(Leu267=), p.L267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17387291G>C" "" "likely benign" "" "0000285518" "0" "30" "11" "17408831" "17408831" "subst" "0.0410294" "02326" "KCNJ11_000009" "g.17408831G>C" "" "" "" "KCNJ11(NM_000525.3):c.808C>G (p.(Leu270Val), p.L270V), KCNJ11(NM_000525.4):c.808C>G (p.L270V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17387284G>C" "" "likely benign" "" "0000322071" "0" "30" "11" "17408485" "17408485" "subst" "0.00453098" "01804" "KCNJ11_000001" "g.17408485G>C" "" "" "" "KCNJ11(NM_000525.3):c.1154C>G (p.(Ser385Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17386938G>C" "" "likely benign" "" "0000322074" "0" "10" "11" "17408496" "17408496" "subst" "0.0125249" "01804" "KCNJ11_000003" "g.17408496C>T" "" "" "" "KCNJ11(NM_000525.3):c.1143G>A (p.(Lys381=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17386949C>T" "" "benign" "" "0000322076" "0" "30" "11" "17408550" "17408550" "subst" "0.00117957" "01804" "KCNJ11_000004" "g.17408550T>C" "" "" "" "KCNJ11(NM_000525.3):c.1089A>G (p.(Ser363=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17387003T>C" "" "likely benign" "" "0000322077" "0" "50" "11" "17408666" "17408666" "subst" "1.21819E-5" "01804" "KCNJ11_000006" "g.17408666G>T" "" "" "" "KCNJ11(NM_000525.3):c.973C>A (p.(Arg325Ser), p.R325S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17387119G>T" "" "VUS" "" "0000322080" "0" "30" "11" "17408820" "17408820" "subst" "5.68861E-5" "01804" "KCNJ11_000008" "g.17408820G>A" "" "" "" "KCNJ11(NM_000525.3):c.819C>T (p.(Ser273=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17387273G>A" "" "likely benign" "" "0000322081" "0" "10" "11" "17408831" "17408831" "subst" "0.0410294" "01804" "KCNJ11_000009" "g.17408831G>C" "" "" "" "KCNJ11(NM_000525.3):c.808C>G (p.(Leu270Val), p.L270V), KCNJ11(NM_000525.4):c.808C>G (p.L270V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17387284G>C" "" "benign" "" "0000322083" "0" "50" "11" "17408835" "17408835" "subst" "3.25042E-5" "01804" "KCNJ11_000010" "g.17408835G>A" "" "" "" "KCNJ11(NM_000525.3):c.804C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17387288G>A" "" "VUS" "" "0000322084" "0" "30" "11" "17408838" "17408838" "subst" "0.0170144" "01804" "KCNJ11_000011" "g.17408838G>C" "" "" "" "KCNJ11(NM_000525.3):c.801C>G (p.(Leu267=), p.L267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17387291G>C" "" "likely benign" "" "0000322086" "0" "50" "11" "17409112" "17409112" "subst" "4.10401E-6" "01804" "KCNJ11_000013" "g.17409112C>T" "" "" "" "KCNJ11(NM_000525.3):c.527G>A (p.(Arg176His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17387565C>T" "" "VUS" "" "0000322089" "0" "30" "11" "17409531" "17409531" "subst" "0.00106546" "01804" "KCNJ11_000016" "g.17409531C>T" "" "" "" "KCNJ11(NM_000525.3):c.108G>A (p.(Val36=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17387984C>T" "" "likely benign" "" "0000322091" "0" "10" "11" "17414556" "17414556" "subst" "0.00288848" "01804" "ABCC8_000102" "g.17414556G>A" "" "" "" "ABCC8(NM_000352.3):c.4728C>T (p.(Phe1576=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17393009G>A" "" "benign" "" "0000322092" "0" "30" "11" "17414628" "17414628" "subst" "0.000341278" "01804" "ABCC8_000103" "g.17414628C>T" "" "" "" "ABCC8(NM_000352.3):c.4656G>A (p.(Lys1552=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17393081C>T" "" "likely benign" "" "0000322093" "0" "70" "11" "17414671" "17414671" "subst" "0" "01804" "ABCC8_000104" "g.17414671C>T" "" "" "" "ABCC8(NM_000352.3):c.4613G>A (p.(Arg1538Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17393124C>T" "" "likely pathogenic" "" "0000322094" "0" "70" "11" "17414674" "17414674" "subst" "0" "01804" "ABCC8_000105" "g.17414674T>C" "" "" "" "ABCC8(NM_000352.3):c.4610A>G (p.(His1537Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17393127T>C" "" "likely pathogenic" "" "0000322097" "0" "30" "11" "17415816" "17415816" "subst" "0.00105708" "01804" "ABCC8_000106" "g.17415816G>T" "" "" "" "ABCC8(NM_000352.3):c.4542C>A (p.(Ala1514=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17394269G>T" "" "likely benign" "" "0000346536" "0" "50" "11" "17409349" "17409349" "subst" "0" "02327" "KCNJ11_000019" "g.17409349T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17387802T>C" "" "VUS" "" "0000446039" "0" "90" "11" "17409038" "17409038" "subst" "0" "03151" "KCNJ11_000020" "g.17409038G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "rs80356625" "0" "" "" "g.17387491G>A" "{CV-RCV:000009202}" "pathogenic" "" "0000497792" "0" "90" "11" "17409629" "17409629" "subst" "2.05356E-5" "01905" "KCNJ11_000102" "g.17409629G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17388082G>A" "" "pathogenic" "" "0000497793" "0" "90" "11" "17409589" "17409589" "subst" "0" "01905" "KCNJ11_000100" "g.17409589A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17388042A>G" "" "pathogenic" "" "0000497794" "0" "90" "11" "17409561" "17409561" "subst" "0" "01905" "KCNJ11_000099" "g.17409561G>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17388014G>T" "" "pathogenic" "" "0000497795" "0" "90" "11" "17409560" "17409560" "subst" "8.14352E-6" "01905" "KCNJ11_000098" "g.17409560G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17388013G>A" "" "pathogenic" "" "0000497796" "0" "90" "11" "17409527" "17409527" "subst" "0" "01905" "KCNJ11_000097" "g.17409527T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387980T>C" "" "pathogenic" "" "0000497797" "0" "90" "11" "17409520" "17409520" "subst" "0" "01905" "KCNJ11_000096" "g.17409520C>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387973C>G" "" "pathogenic" "" "0000497798" "0" "90" "11" "17409494" "17409494" "subst" "0" "01905" "KCNJ11_000092" "g.17409494T>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387947T>A" "" "pathogenic" "" "0000497799" "0" "90" "11" "17409487" "17409487" "subst" "0" "01905" "KCNJ11_000091" "g.17409487T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387940T>C" "" "pathogenic" "" "0000497800" "0" "90" "11" "17409479" "17409479" "subst" "4.06458E-6" "01905" "KCNJ11_000089" "g.17409479G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387932G>A" "" "pathogenic" "" "0000497801" "0" "90" "11" "17409472" "17409473" "delins" "0" "01905" "KCNJ11_000088" "g.17409472_17409473delinsCC" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387925_17387926delinsCC" "" "pathogenic" "" "0000497802" "0" "90" "11" "17409454" "17409454" "del" "0" "01905" "KCNJ11_000085" "g.17409454del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387907del" "" "pathogenic" "" "0000497803" "0" "90" "11" "17409399" "17409399" "del" "0" "01905" "KCNJ11_000084" "g.17409399del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387852del" "" "pathogenic" "" "0000497804" "0" "90" "11" "17409344" "17409344" "subst" "0" "01905" "KCNJ11_000080" "g.17409344C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387797C>A" "" "pathogenic" "" "0000497805" "0" "90" "11" "17409283" "17409283" "dup" "0" "01905" "KCNJ11_000076" "g.17409283dup" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387736dup" "" "pathogenic" "" "0000497806" "0" "90" "11" "17409246" "17409249" "dup" "0" "01905" "KCNJ11_000072" "g.17409246_17409249dup" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387699_17387702dup" "" "pathogenic" "" "0000497807" "0" "90" "11" "17409141" "17409141" "subst" "0" "01905" "KCNJ11_000062" "g.17409141G>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387594G>C" "" "pathogenic" "" "0000497808" "0" "90" "11" "17409133" "17409133" "subst" "0" "01905" "KCNJ11_000060" "g.17409133A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387586A>G" "" "pathogenic" "" "0000497809" "0" "90" "11" "17409109" "17409109" "del" "0" "01905" "KCNJ11_000058" "g.17409109del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387562del" "" "pathogenic" "" "0000497810" "0" "90" "11" "17409104" "17409104" "subst" "0" "01905" "KCNJ11_000057" "g.17409104C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387557C>T" "" "pathogenic" "" "0000497811" "0" "90" "11" "17409022" "17409022" "subst" "0" "01905" "KCNJ11_000055" "g.17409022C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387475C>T" "" "pathogenic" "" "0000497812" "0" "90" "11" "17409016" "17409016" "subst" "0" "01905" "KCNJ11_000053" "g.17409016C>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387469C>G" "" "pathogenic" "" "0000497813" "0" "90" "11" "17408865" "17408865" "subst" "0" "01905" "KCNJ11_000050" "g.17408865G>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387318G>T" "" "pathogenic" "" "0000497814" "0" "90" "11" "17408865" "17408865" "del" "0" "01905" "KCNJ11_000049" "g.17408865del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387318del" "" "pathogenic" "" "0000497815" "0" "90" "11" "17408804" "17408804" "subst" "0" "01905" "KCNJ11_000044" "g.17408804G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387257G>A" "" "pathogenic" "" "0000497816" "0" "90" "11" "17408773" "17408773" "subst" "0" "01905" "KCNJ11_000042" "g.17408773C>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387226C>G" "" "pathogenic" "" "0000497817" "0" "90" "11" "17408756" "17408756" "subst" "0" "01905" "KCNJ11_000041" "g.17408756C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387209C>T" "" "pathogenic" "" "0000497818" "0" "90" "11" "17408657" "17408657" "subst" "0" "01905" "KCNJ11_000034" "g.17408657C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387110C>T" "" "pathogenic" "" "0000497819" "0" "90" "11" "17408651" "17408651" "subst" "0" "01905" "KCNJ11_000032" "g.17408651A>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387104A>T" "" "pathogenic" "" "0000497820" "0" "90" "11" "17408651" "17408651" "subst" "0" "01905" "KCNJ11_000033" "g.17408651A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387104A>G" "" "pathogenic" "" "0000497821" "0" "90" "11" "17408648" "17408648" "subst" "0" "01905" "KCNJ11_000031" "g.17408648A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387101A>G" "" "pathogenic" "" "0000497822" "0" "90" "11" "17408639" "17408639" "subst" "0" "01905" "KCNJ11_000029" "g.17408639C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387092C>T" "" "pathogenic" "" "0000497823" "0" "90" "11" "17408639" "17408639" "subst" "0" "01905" "KCNJ11_000030" "g.17408639C>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387092C>G" "" "pathogenic" "" "0000497824" "0" "50" "11" "17409628" "17409628" "subst" "8.20782E-6" "01905" "KCNJ11_000101" "g.17409628C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17388081C>T" "" "VUS" "" "0000497825" "0" "50" "11" "17409514" "17409514" "subst" "0" "01905" "KCNJ11_000095" "g.17409514C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387967C>T" "" "VUS" "" "0000497826" "0" "50" "11" "17409509" "17409509" "subst" "8.12856E-6" "01905" "KCNJ11_000094" "g.17409509C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387962C>T" "" "VUS" "" "0000497827" "0" "50" "11" "17409506" "17409506" "subst" "0" "01905" "KCNJ11_000093" "g.17409506C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387959C>A" "" "VUS" "" "0000497828" "0" "50" "11" "17409491" "17409491" "subst" "0" "01905" "KCNJ11_000015" "g.17409491G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387944G>A" "" "VUS" "" "0000497829" "0" "50" "11" "17409484" "17409484" "subst" "0" "01905" "KCNJ11_000090" "g.17409484T>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387937T>G" "" "VUS" "" "0000497830" "0" "50" "11" "17409466" "17409466" "subst" "0" "01905" "KCNJ11_000087" "g.17409466T>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387919T>A" "" "VUS" "" "0000497831" "0" "50" "11" "17409460" "17409460" "subst" "0" "01905" "KCNJ11_000086" "g.17409460A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387913A>G" "" "VUS" "" "0000497832" "0" "50" "11" "17409388" "17409388" "subst" "0" "01905" "KCNJ11_000083" "g.17409388A>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387841A>C" "" "VUS" "" "0000497833" "0" "50" "11" "17409352" "17409352" "subst" "0" "01905" "KCNJ11_000082" "g.17409352G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387805G>A" "" "VUS" "" "0000497834" "0" "50" "11" "17409350" "17409350" "subst" "0" "01905" "KCNJ11_000081" "g.17409350G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387803G>A" "" "VUS" "" "0000497835" "0" "50" "11" "17409298" "17409298" "subst" "0" "01905" "KCNJ11_000079" "g.17409298A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387751A>G" "" "VUS" "" "0000497836" "0" "50" "11" "17409295" "17409295" "subst" "0" "01905" "KCNJ11_000078" "g.17409295T>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387748T>A" "" "VUS" "" "0000497837" "0" "50" "11" "17409286" "17409286" "subst" "2.43881E-5" "01905" "KCNJ11_000077" "g.17409286G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387739G>A" "" "VUS" "" "0000497838" "0" "50" "11" "17409277" "17409277" "subst" "0" "01905" "KCNJ11_000075" "g.17409277A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387730A>G" "" "VUS" "" "0000497839" "0" "50" "11" "17409254" "17409254" "subst" "0" "01905" "KCNJ11_000074" "g.17409254C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387707C>T" "" "VUS" "" "0000497840" "0" "50" "11" "17409247" "17409249" "dup" "0" "01905" "KCNJ11_000071" "g.17409247_17409249dup" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387700_17387702dup" "" "VUS" "" "0000497841" "0" "50" "11" "17409248" "17409248" "subst" "0" "01905" "KCNJ11_000073" "g.17409248T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387701T>C" "" "VUS" "" "0000497842" "0" "50" "11" "17409224" "17409224" "subst" "0" "01905" "KCNJ11_000070" "g.17409224T>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387677T>G" "" "VUS" "" "0000497843" "0" "50" "11" "17409221" "17409221" "subst" "0" "01905" "KCNJ11_000069" "g.17409221C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387674C>T" "" "VUS" "" "0000497844" "0" "50" "11" "17409214" "17409214" "subst" "0" "01905" "KCNJ11_000068" "g.17409214C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387667C>T" "" "VUS" "" "0000497845" "0" "50" "11" "17409176" "17409176" "subst" "0" "01905" "KCNJ11_000066" "g.17409176C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387629C>A" "" "VUS" "" "0000497846" "0" "50" "11" "17409176" "17409176" "subst" "1.22407E-5" "01905" "KCNJ11_000067" "g.17409176C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387629C>T" "" "VUS" "" "0000497847" "0" "50" "11" "17409170" "17409170" "subst" "0" "01905" "KCNJ11_000065" "g.17409170G>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387623G>C" "" "VUS" "" "0000497848" "0" "50" "11" "17409159" "17409159" "subst" "0" "01905" "KCNJ11_000064" "g.17409159G>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387612G>C" "" "VUS" "" "0000497849" "0" "50" "11" "17409149" "17409149" "subst" "0" "01905" "KCNJ11_000063" "g.17409149G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387602G>A" "" "VUS" "" "0000497850" "0" "50" "11" "17409140" "17409140" "subst" "0" "01905" "KCNJ11_000061" "g.17409140T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387593T>C" "" "VUS" "" "0000497851" "0" "50" "11" "17409127" "17409127" "subst" "0" "01905" "KCNJ11_000059" "g.17409127G>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387580G>T" "" "VUS" "" "0000497852" "0" "50" "11" "17409100" "17409100" "subst" "0" "01905" "KCNJ11_000056" "g.17409100G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387553G>A" "" "VUS" "" "0000497853" "0" "50" "11" "17409016" "17409016" "subst" "0" "01905" "KCNJ11_000054" "g.17409016C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387469C>T" "" "VUS" "" "0000497854" "0" "50" "11" "17409003" "17409003" "subst" "2.04464E-5" "01905" "KCNJ11_000052" "g.17409003G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387456G>A" "" "VUS" "" "0000497855" "0" "50" "11" "17408975" "17408975" "subst" "1.22235E-5" "01905" "KCNJ11_000051" "g.17408975T>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387428T>G" "" "VUS" "" "0000497856" "0" "50" "11" "17408861" "17408861" "subst" "0" "01905" "KCNJ11_000048" "g.17408861C>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387314C>G" "" "VUS" "" "0000497857" "0" "50" "11" "17408845" "17408845" "subst" "4.06243E-6" "01905" "KCNJ11_000047" "g.17408845C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387298C>A" "" "VUS" "" "0000497858" "0" "50" "11" "17408837" "17408837" "subst" "0" "01905" "KCNJ11_000046" "g.17408837A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387290A>G" "" "VUS" "" "0000497859" "0" "50" "11" "17408819" "17408819" "subst" "0" "01905" "KCNJ11_000045" "g.17408819C>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387272C>G" "" "VUS" "" "0000497860" "0" "50" "11" "17408779" "17408779" "subst" "0" "01905" "KCNJ11_000043" "g.17408779A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387232A>G" "" "VUS" "" "0000497861" "0" "50" "11" "17408749" "17408749" "subst" "0" "01905" "KCNJ11_000040" "g.17408749G>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387202G>T" "" "VUS" "" "0000497862" "0" "50" "11" "17408743" "17408743" "subst" "0" "01905" "KCNJ11_000039" "g.17408743T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387196T>C" "" "VUS" "" "0000497863" "0" "50" "11" "17408740" "17408740" "subst" "0" "01905" "KCNJ11_000038" "g.17408740G>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387193G>T" "" "VUS" "" "0000497864" "0" "50" "11" "17408710" "17408710" "subst" "0" "01905" "KCNJ11_000037" "g.17408710A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387163A>G" "" "VUS" "" "0000497865" "0" "50" "11" "17408687" "17408687" "subst" "8.12123E-6" "01905" "KCNJ11_000036" "g.17408687T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387140T>C" "" "VUS" "" "0000497866" "0" "50" "11" "17408666" "17408666" "subst" "1.21819E-5" "01905" "KCNJ11_000006" "g.17408666G>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387119G>T" "" "VUS" "" "0000497867" "0" "50" "11" "17408665" "17408665" "subst" "1.62423E-5" "01905" "KCNJ11_000035" "g.17408665C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387118C>T" "" "VUS" "" "0000497868" "0" "50" "11" "17408633" "17408633" "subst" "0" "01905" "KCNJ11_000028" "g.17408633T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387086T>C" "" "VUS" "" "0000497869" "0" "50" "11" "17408612" "17408612" "subst" "0" "01905" "KCNJ11_000027" "g.17408612G>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17387065G>C" "" "VUS" "" "0000497870" "0" "50" "11" "17408534" "17408534" "subst" "4.07206E-5" "01905" "KCNJ11_000026" "g.17408534G>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17386987G>T" "" "VUS" "" "0000497871" "0" "50" "11" "17408533" "17408533" "subst" "4.07322E-6" "01905" "KCNJ11_000024" "g.17408533C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17386986C>T" "" "VUS" "" "0000497872" "0" "50" "11" "17408533" "17408533" "subst" "0" "01905" "KCNJ11_000025" "g.17408533C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17386986C>A" "" "VUS" "" "0000497873" "0" "50" "11" "17408522" "17408522" "subst" "5.70418E-5" "01905" "KCNJ11_000023" "g.17408522C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17386975C>T" "" "VUS" "" "0000497874" "0" "50" "11" "17408513" "17408513" "subst" "0" "01905" "KCNJ11_000022" "g.17408513C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17386966C>A" "" "VUS" "" "0000497875" "0" "50" "11" "17408501" "17408506" "dup" "0" "01905" "KCNJ11_000021" "g.17408501_17408506dup" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17386954_17386959dup" "" "VUS" "" "0000543102" "0" "30" "11" "17408544" "17408544" "subst" "0.000349946" "01804" "KCNJ11_000104" "g.17408544G>A" "" "" "" "KCNJ11(NM_000525.3):c.1095C>T (p.(Arg365=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17386997G>A" "" "likely benign" "" "0000543103" "0" "50" "11" "17408555" "17408555" "subst" "2.44061E-5" "01943" "KCNJ11_000105" "g.17408555C>T" "" "" "" "KCNJ11(NM_000525.3):c.1084G>A (p.A362T, p.(Ala362Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17387008C>T" "" "VUS" "" "0000543104" "0" "30" "11" "17408579" "17408579" "subst" "2.03127E-5" "01804" "KCNJ11_000106" "g.17408579T>C" "" "" "" "KCNJ11(NM_000525.3):c.1060A>G (p.(Ser354Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17387032T>C" "" "likely benign" "" "0000543105" "0" "50" "11" "17408737" "17408737" "subst" "1.21827E-5" "01804" "KCNJ11_000107" "g.17408737C>T" "" "" "" "KCNJ11(NM_000525.3):c.902G>A (p.(Arg301His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17387190C>T" "" "VUS" "" "0000543107" "0" "50" "11" "17408909" "17408909" "subst" "4.06501E-5" "02325" "KCNJ11_000108" "g.17408909C>T" "" "" "" "KCNJ11(NM_000525.3):c.730G>A (p.(Val244Met)), KCNJ11(NM_000525.4):c.730G>A (p.V244M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17387362C>T" "" "VUS" "" "0000543108" "0" "50" "11" "17409027" "17409027" "subst" "0" "02327" "KCNJ11_000109" "g.17409027G>T" "" "" "" "KCNJ11(NM_000525.3):c.612C>A (p.(Asp204Glu)), KCNJ11(NM_000525.4):c.612C>A (p.D204E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17387480G>T" "" "VUS" "" "0000543109" "0" "30" "11" "17409055" "17409055" "subst" "0.000292941" "01804" "KCNJ11_000110" "g.17409055C>T" "" "" "" "KCNJ11(NM_000525.3):c.584G>A (p.(Arg195His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17387508C>T" "" "likely benign" "" "0000543110" "0" "30" "11" "17409330" "17409330" "subst" "0.000724272" "01804" "KCNJ11_000111" "g.17409330G>A" "" "" "" "KCNJ11(NM_000525.3):c.309C>T (p.(Ser103=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17387783G>A" "" "likely benign" "" "0000543111" "0" "50" "11" "17409352" "17409352" "subst" "0" "02327" "KCNJ11_000082" "g.17409352G>A" "" "" "" "KCNJ11(NM_000525.3):c.287C>T (p.(Ala96Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17387805G>A" "" "VUS" "" "0000543112" "0" "50" "11" "17409547" "17409547" "subst" "4.06984E-6" "01804" "ABCC8_000412" "g.17409547C>A" "" "" "" "KCNJ11(NM_000525.3):c.92G>T (p.(Arg31Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17388000C>A" "" "VUS" "" "0000543114" "0" "50" "11" "17414555" "17414555" "subst" "1.62504E-5" "01804" "ABCC8_000414" "g.17414555C>T" "" "" "" "ABCC8(NM_000352.3):c.4729G>A (p.(Val1577Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17393008C>T" "" "VUS" "" "0000543115" "0" "30" "11" "17414565" "17414565" "subst" "7.71881E-5" "01804" "ABCC8_000415" "g.17414565G>A" "" "" "" "ABCC8(NM_000352.3):c.4719C>T (p.(Phe1573=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17393018G>A" "" "likely benign" "" "0000543117" "0" "30" "11" "17414581" "17414581" "subst" "0.000788028" "01804" "ABCC8_000417" "g.17414581C>T" "" "" "" "ABCC8(NM_000352.3):c.4703G>A (p.(Arg1568Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17393034C>T" "" "likely benign" "" "0000543119" "0" "50" "11" "17414660" "17414660" "subst" "0" "01804" "ABCC8_000419" "g.17414660T>A" "" "" "" "ABCC8(NM_000352.3):c.4624A>T (p.(Ile1542Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17393113T>A" "" "VUS" "" "0000543120" "0" "30" "11" "17414687" "17414687" "subst" "0" "01804" "ABCC8_000420" "g.17414687A>T" "" "" "" "ABCC8(NM_000352.3):c.4609-12T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17393140A>T" "" "likely benign" "" "0000543121" "0" "30" "11" "17414690" "17414690" "subst" "0" "01804" "ABCC8_000421" "g.17414690A>T" "" "" "" "ABCC8(NM_000352.3):c.4609-15T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17393143A>T" "" "likely benign" "" "0000543124" "0" "30" "11" "17415289" "17415289" "subst" "0.000316726" "01804" "ABCC8_000424" "g.17415289C>A" "" "" "" "ABCC8(NM_000352.3):c.4563G>T (p.(Lys1521Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17393742C>A" "" "likely benign" "" "0000543125" "0" "50" "11" "17415814" "17415814" "subst" "4.06656E-6" "01804" "ABCC8_000425" "g.17415814G>A" "" "" "" "ABCC8(NM_000352.3):c.4544C>T (p.(Thr1515Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17394267G>A" "" "VUS" "" "0000543126" "0" "30" "11" "17415873" "17415873" "subst" "2.03077E-5" "01804" "ABCC8_000426" "g.17415873G>A" "" "" "" "ABCC8(NM_000352.3):c.4485C>T (p.(Phe1495=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17394326G>A" "" "likely benign" "" "0000613193" "0" "10" "11" "17408630" "17408630" "subst" "0.636871" "02327" "KCNJ11_000005" "g.17408630C>T" "" "" "" "KCNJ11(NM_000525.4):c.1009G>A (p.V337I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17387083C>T" "" "benign" "" "0000613194" "0" "50" "11" "17408665" "17408665" "subst" "1.21818E-5" "02327" "KCNJ11_000112" "g.17408665C>G" "" "" "" "KCNJ11(NM_000525.3):c.974G>C (p.(Arg325Pro), p.R325P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17387118C>G" "" "VUS" "" "0000613195" "0" "90" "11" "17408737" "17408737" "subst" "1.21827E-5" "02327" "KCNJ11_000107" "g.17408737C>T" "" "" "" "KCNJ11(NM_000525.3):c.902G>A (p.(Arg301His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17387190C>T" "" "pathogenic" "" "0000613196" "0" "10" "11" "17408831" "17408831" "subst" "0.0410294" "02327" "KCNJ11_000009" "g.17408831G>C" "" "" "" "KCNJ11(NM_000525.3):c.808C>G (p.(Leu270Val), p.L270V), KCNJ11(NM_000525.4):c.808C>G (p.L270V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17387284G>C" "" "benign" "" "0000613197" "0" "10" "11" "17408838" "17408838" "subst" "0.0170144" "02327" "KCNJ11_000011" "g.17408838G>C" "" "" "" "KCNJ11(NM_000525.3):c.801C>G (p.(Leu267=), p.L267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17387291G>C" "" "benign" "" "0000613199" "0" "30" "11" "17409453" "17409453" "subst" "1.62832E-5" "02327" "ABCC8_000493" "g.17409453C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17387906C>T" "" "likely benign" "" "0000613200" "0" "50" "11" "17409572" "17409572" "subst" "0.638793" "02327" "KCNJ11_000017" "g.17409572T>C" "" "" "" "KCNJ11(NM_000525.4):c.67A>G (p.K23E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17388025T>C" "" "VUS" "" "0000622601" "0" "30" "11" "17408796" "17408796" "subst" "0.000361536" "02325" "KCNJ11_000113" "g.17408796G>A" "" "" "" "KCNJ11(NM_000525.3):c.843C>T (p.(Leu281=)), KCNJ11(NM_000525.4):c.843C>T (p.L281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17387249G>A" "" "likely benign" "" "0000648166" "1" "90" "11" "17408675" "17408675" "subst" "0" "03575" "KCNJ11_000007" "g.17408675C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs193929355}" "Germline" "" "rs193929355" "0" "" "" "g.17387128C>T" "" "pathogenic" "" "0000653103" "1" "90" "11" "17409037" "17409037" "subst" "0" "03575" "KCNJ11_000115" "g.17409037C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs80356624}" "Germline" "" "rs80356624" "0" "" "" "g.17387490C>T" "" "pathogenic" "" "0000673605" "0" "90" "11" "17409037" "17409037" "subst" "0" "03695" "KCNJ11_000115" "g.17409037C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000673851" "2" "70" "11" "17409112" "17409112" "subst" "4.10401E-6" "03695" "KCNJ11_000117" "g.17409112C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000673852" "2" "70" "11" "17409213" "17409213" "subst" "0" "03695" "KCNJ11_000118" "g.17409213G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000673975" "2" "90" "11" "17408633" "17408633" "del" "0" "03695" "KCNJ11_000116" "g.17408633del" "" "" "" "1006delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000679115" "0" "50" "11" "17409079" "17409079" "subst" "0" "02327" "KCNJ11_000119" "g.17409079G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000704548" "11" "50" "11" "17409100" "17409100" "subst" "0" "03946" "KCNJ11_000056" "g.17409100G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "ACMG" "0000723320" "0" "50" "11" "17408666" "17408666" "subst" "1.21819E-5" "02329" "KCNJ11_000006" "g.17408666G>T" "" "" "" "KCNJ11(NM_000525.3):c.973C>A (p.(Arg325Ser), p.R325S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723321" "0" "30" "11" "17408822" "17408822" "subst" "1.21879E-5" "01943" "KCNJ11_000120" "g.17408822T>C" "" "" "" "KCNJ11(NM_000525.3):c.817A>G (p.S273G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723322" "0" "50" "11" "17415244" "17415244" "subst" "0" "02329" "ABCC8_000517" "g.17415244C>T" "" "" "" "ABCC8(NM_000352.3):c.4608G>A (p.(=)), ABCC8(NM_001351295.2):c.4674G>A (p.A1558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852837" "0" "10" "11" "17408496" "17408496" "subst" "0.0125249" "02327" "KCNJ11_000003" "g.17408496C>T" "" "" "" "KCNJ11(NM_000525.3):c.1143G>A (p.(Lys381=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852838" "0" "50" "11" "17415860" "17415860" "subst" "0" "02329" "ABCC8_000534" "g.17415860T>C" "" "" "" "ABCC8(NM_001351295.2):c.4564A>G (p.S1522G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862381" "0" "90" "11" "17408675" "17408675" "subst" "0" "02325" "KCNJ11_000007" "g.17408675C>T" "" "" "" "KCNJ11(NM_000525.4):c.964G>A (p.E322K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000862382" "0" "30" "11" "17408796" "17408796" "subst" "0.000361536" "01804" "KCNJ11_000113" "g.17408796G>A" "" "" "" "KCNJ11(NM_000525.3):c.843C>T (p.(Leu281=)), KCNJ11(NM_000525.4):c.843C>T (p.L281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862383" "0" "50" "11" "17408797" "17408799" "del" "0" "01804" "KCNJ11_000121" "g.17408797_17408799del" "" "" "" "KCNJ11(NM_000525.3):c.841_843del (p.(Leu281del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862384" "0" "50" "11" "17408857" "17408857" "subst" "0" "01804" "KCNJ11_000122" "g.17408857A>G" "" "" "" "KCNJ11(NM_000525.3):c.782T>C (p.(Ile261Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862385" "0" "90" "11" "17408907" "17408907" "del" "0" "01804" "KCNJ11_000123" "g.17408907del" "" "" "" "KCNJ11(NM_000525.3):c.734del (p.(Gly245Valfs*11))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000862386" "0" "30" "11" "17408949" "17408949" "subst" "8.13676E-6" "01804" "KCNJ11_000124" "g.17408949C>T" "" "" "" "KCNJ11(NM_000525.3):c.690G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862387" "0" "30" "11" "17409072" "17409072" "subst" "3.71201E-5" "01804" "KCNJ11_000125" "g.17409072G>A" "" "" "" "KCNJ11(NM_000525.3):c.567C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862388" "0" "30" "11" "17409078" "17409078" "subst" "4.11726E-5" "01804" "KCNJ11_000126" "g.17409078C>T" "" "" "" "KCNJ11(NM_000525.3):c.561G>A (p.(Ala187=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862389" "0" "70" "11" "17409124" "17409124" "subst" "0" "01804" "KCNJ11_000127" "g.17409124G>C" "" "" "" "KCNJ11(NM_000525.3):c.515C>G (p.(Ala172Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862390" "0" "50" "11" "17409164" "17409164" "subst" "0" "01804" "KCNJ11_000128" "g.17409164T>C" "" "" "" "KCNJ11(NM_000525.3):c.475A>G (p.(Ile159Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862391" "0" "30" "11" "17409180" "17409180" "subst" "0" "01804" "KCNJ11_000129" "g.17409180G>A" "" "" "" "KCNJ11(NM_000525.3):c.459C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862392" "0" "30" "11" "17409302" "17409302" "subst" "3.25248E-5" "01804" "KCNJ11_000130" "g.17409302T>C" "" "" "" "KCNJ11(NM_000525.3):c.337A>G (p.(Ser113Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862393" "0" "50" "11" "17409337" "17409337" "subst" "2.03439E-5" "01804" "KCNJ11_000131" "g.17409337G>T" "" "" "" "KCNJ11(NM_000525.3):c.302C>A (p.(Ala101Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862394" "0" "50" "11" "17409359" "17409359" "subst" "2.03455E-5" "01804" "KCNJ11_000132" "g.17409359C>T" "" "" "" "KCNJ11(NM_000525.3):c.280G>A (p.(Ala94Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862395" "0" "50" "11" "17409509" "17409509" "subst" "8.12856E-6" "01804" "KCNJ11_000094" "g.17409509C>T" "" "" "" "KCNJ11(NM_000525.3):c.130G>A (p.(Val44Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862396" "0" "30" "11" "17409602" "17409602" "subst" "0.000298237" "01804" "ABCC8_000527" "g.17409602C>T" "" "" "" "KCNJ11(NM_000525.3):c.37G>A (p.(Val13Met)), KCNJ11(NM_000525.4):c.37G>A (p.V13M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862397" "0" "50" "11" "17409624" "17409624" "subst" "0" "01804" "ABCC8_000528" "g.17409624C>G" "" "" "" "KCNJ11(NM_000525.3):c.15G>C (p.(Lys5Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862398" "0" "50" "11" "17409628" "17409628" "subst" "8.20782E-6" "01804" "KCNJ11_000101" "g.17409628C>T" "" "" "" "KCNJ11(NM_000525.3):c.11G>A (p.(Arg4His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862399" "0" "30" "11" "17414637" "17414637" "subst" "7.3144E-5" "01804" "ABCC8_000529" "g.17414637G>A" "" "" "" "ABCC8(NM_000352.3):c.4647C>T (p.(Ile1549=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862400" "0" "10" "11" "17414682" "17414682" "subst" "0" "01804" "ABCC8_000530" "g.17414682A>T" "" "" "" "ABCC8(NM_000352.3):c.4609-7T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862401" "0" "70" "11" "17415244" "17415244" "subst" "0" "01804" "ABCC8_000517" "g.17415244C>T" "" "" "" "ABCC8(NM_000352.3):c.4608G>A (p.(=)), ABCC8(NM_001351295.2):c.4674G>A (p.A1558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862402" "0" "30" "11" "17415799" "17415799" "subst" "0" "01804" "ABCC8_000531" "g.17415799G>A" "" "" "" "ABCC8(NM_000352.3):c.4545+14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862403" "0" "30" "11" "17415800" "17415800" "subst" "0.000537512" "01804" "ABCC8_000532" "g.17415800G>A" "" "" "" "ABCC8(NM_000352.3):c.4545+13C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862404" "0" "30" "11" "17415843" "17415843" "subst" "2.43772E-5" "01804" "ABCC8_000533" "g.17415843G>A" "" "" "" "ABCC8(NM_000352.3):c.4515C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889711" "0" "50" "11" "17408665" "17408665" "subst" "1.21818E-5" "02329" "KCNJ11_000112" "g.17408665C>G" "" "" "" "KCNJ11(NM_000525.3):c.974G>C (p.(Arg325Pro), p.R325P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889712" "0" "30" "11" "17408851" "17408851" "subst" "8.12612E-6" "01804" "KCNJ11_000133" "g.17408851G>T" "" "" "" "KCNJ11(NM_000525.3):c.788C>A (p.(Ala263Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889713" "0" "30" "11" "17408886" "17408886" "subst" "2.43799E-5" "01804" "KCNJ11_000134" "g.17408886C>G" "" "" "" "KCNJ11(NM_000525.3):c.753G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889714" "0" "50" "11" "17408906" "17408906" "subst" "4.06451E-6" "01804" "KCNJ11_000135" "g.17408906C>A" "" "" "" "KCNJ11(NM_000525.3):c.733G>T (p.(Gly245Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889715" "0" "70" "11" "17409027" "17409027" "subst" "0" "01804" "KCNJ11_000109" "g.17409027G>T" "" "" "" "KCNJ11(NM_000525.3):c.612C>A (p.(Asp204Glu)), KCNJ11(NM_000525.4):c.612C>A (p.D204E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889716" "0" "50" "11" "17409602" "17409602" "subst" "0.000298237" "02325" "ABCC8_000527" "g.17409602C>T" "" "" "" "KCNJ11(NM_000525.3):c.37G>A (p.(Val13Met)), KCNJ11(NM_000525.4):c.37G>A (p.V13M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889717" "0" "50" "11" "17414669" "17414669" "subst" "0" "01804" "ABCC8_000184" "g.17414669C>T" "" "" "" "ABCC8(NM_000352.3):c.4615G>A (p.(Val1539Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913534" "0" "90" "11" "17409283" "17409283" "dup" "0" "02325" "KCNJ11_000076" "g.17409283dup" "" "" "" "KCNJ11(NM_000525.4):c.356dupC (p.A120Cfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913535" "0" "50" "11" "17409347" "17409347" "subst" "0" "01804" "KCNJ11_000136" "g.17409347C>T" "" "" "" "KCNJ11(NM_000525.3):c.292G>A (p.(Gly98Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925347" "0" "50" "11" "17408909" "17408909" "subst" "4.06501E-5" "01804" "KCNJ11_000108" "g.17408909C>T" "" "" "" "KCNJ11(NM_000525.3):c.730G>A (p.(Val244Met)), KCNJ11(NM_000525.4):c.730G>A (p.V244M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929824" "0" "50" "11" "17409176" "17409176" "subst" "1.22407E-5" "01804" "KCNJ11_000067" "g.17409176C>T" "" "" "" "KCNJ11(NM_000525.3):c.463G>A (p.(Val155Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929825" "0" "50" "11" "17414582" "17414582" "subst" "4.06194E-6" "02325" "ABCC8_000610" "g.17414582G>A" "" "" "" "ABCC8(NM_000352.6):c.4702C>T (p.R1568W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929826" "0" "30" "11" "17415804" "17415804" "subst" "1.22095E-5" "01804" "ABCC8_000611" "g.17415804A>G" "" "" "" "ABCC8(NM_000352.3):c.4545+9T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949618" "0" "50" "11" "17408665" "17408665" "subst" "1.21818E-5" "01804" "KCNJ11_000112" "g.17408665C>G" "" "" "" "KCNJ11(NM_000525.3):c.974G>C (p.(Arg325Pro), p.R325P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949619" "0" "90" "11" "17408960" "17408960" "subst" "4.07063E-6" "01804" "KCNJ11_000137" "g.17408960C>T" "" "" "" "KCNJ11(NM_000525.3):c.679G>A (p.(Glu227Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949620" "0" "30" "11" "17408961" "17408961" "subst" "0.000276891" "01804" "KCNJ11_000138" "g.17408961G>A" "" "" "" "KCNJ11(NM_000525.3):c.678C>T (p.(Pro226=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966238" "0" "50" "11" "17408522" "17408522" "subst" "5.70418E-5" "01804" "KCNJ11_000023" "g.17408522C>T" "" "" "" "KCNJ11(NM_000525.3):c.1117G>A (p.(Val373Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966240" "0" "70" "11" "17409027" "17409027" "subst" "0" "02329" "KCNJ11_000109" "g.17409027G>T" "" "" "" "KCNJ11(NM_000525.3):c.612C>A (p.(Asp204Glu)), KCNJ11(NM_000525.4):c.612C>A (p.D204E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000966242" "0" "50" "11" "17414604" "17414604" "subst" "8.12374E-6" "01804" "ABCC8_000627" "g.17414604A>T" "" "" "" "ABCC8(NM_000352.3):c.4680T>A (p.(Asp1560Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979480" "0" "50" "11" "17408533" "17408533" "subst" "0" "01804" "KCNJ11_000025" "g.17408533C>A" "" "" "" "KCNJ11(NM_000525.4):c.1106G>T (p.(Arg369Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979481" "0" "50" "11" "17408771" "17408771" "subst" "2.03079E-5" "01804" "KCNJ11_000139" "g.17408771C>T" "" "" "" "KCNJ11(NM_000525.4):c.868G>A (p.(Val290Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979482" "0" "50" "11" "17408819" "17408819" "subst" "2.43768E-5" "01804" "KCNJ11_000140" "g.17408819C>A" "" "" "" "KCNJ11(NM_000525.3):c.820G>T (p.(Asp274Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979483" "0" "50" "11" "17409239" "17409239" "dup" "0" "01804" "KCNJ11_000141" "g.17409239dup" "" "" "" "KCNJ11(NM_000525.3):c.405dup (p.(Arg136AlafsTer5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979484" "0" "50" "11" "17409499" "17409499" "subst" "0" "01804" "ABCC8_000634" "g.17409499T>C" "" "" "" "KCNJ11(NM_000525.4):c.140A>G (p.(Lys47Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979485" "0" "30" "11" "17409573" "17409573" "subst" "4.07319E-5" "01804" "ABCC8_000635" "g.17409573G>A" "" "" "" "KCNJ11(NM_000525.3):c.66C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987543" "11" "70" "11" "17409079" "17409079" "subst" "0" "04221" "KCNJ11_000119" "g.17409079G>A" "" "" "" "" "Molecular study performed in both parents to define inheritance: autosomal dominant Hyperinsulinemic hypoglycemia, familial, 2 (father heterozygous); He 2021:32935446, Haghvirdizadeh 2015:26448950, Sogno 2013:23652837" "Germline" "yes" "rs1371185696" "0" "" "" "g.17387532G>A" "{CV:551187}" "likely pathogenic (dominant)" "ACMG" "0000998903" "0" "50" "11" "17408514" "17408514" "subst" "0" "01804" "KCNJ11_000142" "g.17408514C>T" "" "" "" "KCNJ11(NM_000525.3):c.1125G>A (p.(Met375Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998904" "0" "50" "11" "17408527" "17408527" "subst" "1.22216E-5" "01804" "KCNJ11_000143" "g.17408527C>T" "" "" "" "KCNJ11(NM_000525.3):c.1112G>A (p.(Arg371His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998905" "0" "50" "11" "17408536" "17408536" "subst" "0" "01804" "KCNJ11_000144" "g.17408536A>G" "" "" "" "KCNJ11(NM_000525.3):c.1103T>C (p.(Leu368Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998906" "0" "30" "11" "17408546" "17408546" "subst" "2.44125E-5" "01804" "KCNJ11_000145" "g.17408546G>A" "" "" "" "KCNJ11(NM_000525.3):c.1093C>T (p.(Arg365Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998907" "0" "30" "11" "17408555" "17408555" "subst" "2.44061E-5" "01804" "KCNJ11_000105" "g.17408555C>T" "" "" "" "KCNJ11(NM_000525.3):c.1084G>A (p.A362T, p.(Ala362Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998908" "0" "90" "11" "17408737" "17408737" "subst" "0" "01804" "KCNJ11_000146" "g.17408737C>G" "" "" "" "KCNJ11(NM_000525.3):c.902G>C (p.(Arg301Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000998909" "0" "50" "11" "17408819" "17408819" "subst" "3.25024E-5" "01804" "KCNJ11_000147" "g.17408819C>T" "" "" "" "KCNJ11(NM_000525.3):c.820G>A (p.(Asp274Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998910" "0" "50" "11" "17409352" "17409352" "subst" "0" "01804" "KCNJ11_000082" "g.17409352G>A" "" "" "" "KCNJ11(NM_000525.3):c.287C>T (p.(Ala96Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014769" "0" "50" "11" "17408756" "17408756" "subst" "0" "01804" "KCNJ11_000041" "g.17408756C>T" "" "" "" "KCNJ11(NM_000525.3):c.883G>A (p.(Gly295Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014770" "0" "50" "11" "17409264" "17409264" "subst" "0" "01804" "KCNJ11_000148" "g.17409264A>C" "" "" "" "KCNJ11(NM_000525.3):c.375T>G (p.(Ile125Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025941" "0" "30" "11" "17409360" "17409360" "subst" "1.62733E-5" "01804" "KCNJ11_000149" "g.17409360G>A" "" "" "" "KCNJ11(NM_000525.3):c.279C>T (p.(Ile93=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025942" "0" "50" "11" "17409548" "17409548" "subst" "0.000113968" "01804" "ABCC8_000656" "g.17409548G>A" "" "" "" "KCNJ11(NM_000525.3):c.91C>T (p.(Arg31Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038367" "0" "50" "11" "17414551" "17414551" "subst" "4.46929E-5" "01804" "ABCC8_000179" "g.17414551C>T" "" "" "" "ABCC8(NM_000352.3):c.4733G>A (p.(Arg1578His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046295" "0" "50" "11" "17415245" "17415245" "subst" "8.12137E-6" "01804" "ABCC8_000669" "g.17415245G>A" "" "" "" "ABCC8(NM_000352.3):c.4607C>T (p.(Ala1536Val))" "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 KCNJ11 ## Count = 210 "{{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}}" "0000281716" "00010380" "10" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Val337Ile)" "" "0000281717" "00010380" "10" "67" "0" "67" "0" "c.67A>G" "r.(?)" "p.(Lys23Glu)" "" "0000281718" "00010380" "10" "808" "0" "808" "0" "c.808C>G" "r.(?)" "p.(Leu270Val)" "" "0000285517" "00010380" "30" "801" "0" "801" "0" "c.801C>G" "r.(?)" "p.(Leu267=)" "" "0000285518" "00010380" "30" "808" "0" "808" "0" "c.808C>G" "r.(?)" "p.(Leu270Val)" "" "0000322071" "00010380" "30" "1154" "0" "1154" "0" "c.1154C>G" "r.(?)" "p.(Ser385Cys)" "" "0000322074" "00010380" "10" "1143" "0" "1143" "0" "c.1143G>A" "r.(?)" "p.(Lys381=)" "" "0000322076" "00010380" "30" "1089" "0" "1089" "0" "c.1089A>G" "r.(?)" "p.(Ser363=)" "" "0000322077" "00010380" "50" "973" "0" "973" "0" "c.973C>A" "r.(?)" "p.(Arg325Ser)" "" "0000322080" "00010380" "30" "819" "0" "819" "0" "c.819C>T" "r.(?)" "p.(Ser273=)" "" "0000322081" "00010380" "10" "808" "0" "808" "0" "c.808C>G" "r.(?)" "p.(Leu270Val)" "" "0000322083" "00010380" "50" "804" "0" "804" "0" "c.804C>T" "r.(?)" "p.(Tyr268=)" "" "0000322084" "00010380" "30" "801" "0" "801" "0" "c.801C>G" "r.(?)" "p.(Leu267=)" "" "0000322086" "00010380" "50" "527" "0" "527" "0" "c.527G>A" "r.(?)" "p.(Arg176His)" "" "0000322089" "00010380" "30" "108" "0" "108" "0" "c.108G>A" "r.(?)" "p.(Val36=)" "" "0000322091" "00010380" "10" "-4918" "0" "-4918" "0" "c.-4918C>T" "r.(?)" "p.(=)" "" "0000322092" "00010380" "30" "-4990" "0" "-4990" "0" "c.-4990G>A" "r.(?)" "p.(=)" "" "0000322093" "00010380" "70" "-5033" "0" "-5033" "0" "c.-5033G>A" "r.(?)" "p.(=)" "" "0000322094" "00010380" "70" "-5036" "0" "-5036" "0" "c.-5036A>G" "r.(?)" "p.(=)" "" "0000322097" "00010380" "30" "-6178" "0" "-6178" "0" "c.-6178C>A" "r.(?)" "p.(=)" "" "0000346536" "00010380" "50" "290" "0" "290" "0" "c.290A>G" "r.(?)" "p.(His97Arg)" "" "0000446039" "00010380" "90" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201Cys)" "1" "0000497792" "00010380" "90" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Arg4Cys)" "1" "0000497793" "00010380" "90" "50" "0" "50" "0" "c.50T>C" "r.(?)" "p.(Leu17Pro)" "1" "0000497794" "00010380" "90" "78" "0" "78" "0" "c.78C>A" "r.(?)" "p.(Tyr26*)" "1" "0000497795" "00010380" "90" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Arg27Cys)" "1" "0000497796" "00010380" "90" "112" "0" "112" "0" "c.112A>G" "r.(?)" "p.(Lys38Glu)" "1" "0000497797" "00010380" "90" "119" "0" "119" "0" "c.119G>C" "r.(?)" "p.(Gly40Ala)" "1" "0000497798" "00010380" "90" "145" "0" "145" "0" "c.145A>T" "r.(?)" "p.(Ile49Phe)" "1" "0000497799" "00010380" "90" "152" "0" "152" "0" "c.152A>G" "r.(?)" "p.(Glu51Gly)" "1" "0000497800" "00010380" "90" "160" "0" "160" "0" "c.160C>T" "r.(?)" "p.(Arg54Cys)" "1" "0000497801" "00010380" "90" "166" "0" "167" "0" "c.166_167delinsGG" "r.(?)" "p.(Leu56Gly)" "1" "0000497802" "00010380" "90" "185" "0" "185" "0" "c.185del" "r.(?)" "p.(Thr62Serfs*68)" "1" "0000497803" "00010380" "90" "240" "0" "240" "0" "c.240del" "r.(?)" "p.(Cys81Alafs*49)" "1" "0000497804" "00010380" "90" "295" "0" "295" "0" "c.295G>T" "r.(?)" "p.(Asp99Tyr)" "1" "0000497805" "00010380" "90" "356" "0" "356" "0" "c.356dup" "r.(?)" "p.(Ala120Cysfs*7)" "1" "0000497806" "00010380" "90" "390" "0" "393" "0" "c.390_393dup" "r.(?)" "p.(Gly132Tyrfs*10)" "1" "0000497807" "00010380" "90" "498" "0" "498" "0" "c.498C>G" "r.(?)" "p.(Cys166Trp)" "1" "0000497808" "00010380" "90" "506" "0" "506" "0" "c.506T>C" "r.(?)" "p.(Met169Thr)" "1" "0000497809" "00010380" "90" "532" "0" "532" "0" "c.532del" "r.(?)" "p.(Ala178Leufs*11)" "1" "0000497810" "00010380" "90" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Glu179Lys)" "1" "0000497811" "00010380" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "1" "0000497812" "00010380" "90" "623" "0" "623" "0" "c.623G>C" "r.(?)" "p.(Ser208Thr)" "1" "0000497813" "00010380" "90" "774" "0" "774" "0" "c.774C>A" "r.(?)" "p.(Tyr258*)" "1" "0000497814" "00010380" "90" "775" "0" "775" "0" "c.775del" "r.(?)" "p.(His259Metfs*61)" "1" "0000497815" "00010380" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Gln279*)" "1" "0000497816" "00010380" "90" "866" "0" "866" "0" "c.866G>C" "r.(?)" "p.(Gly289Ala)" "1" "0000497817" "00010380" "90" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Gly295Ser)" "1" "0000497818" "00010380" "90" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Val328Met)" "1" "0000497819" "00010380" "90" "988" "0" "988" "0" "c.988T>A" "r.(?)" "p.(Tyr330Asn)" "1" "0000497820" "00010380" "90" "988" "0" "988" "0" "c.988T>C" "r.(?)" "p.(Tyr330His)" "1" "0000497821" "00010380" "90" "991" "0" "991" "0" "c.991T>C" "r.(?)" "p.(Ser331Pro)" "1" "0000497822" "00010380" "90" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Gly334Ser)" "1" "0000497823" "00010380" "90" "1000" "0" "1000" "0" "c.1000G>C" "r.(?)" "p.(Gly334Arg)" "1" "0000497824" "00010380" "50" "11" "0" "11" "0" "c.11G>A" "r.(?)" "p.(Arg4His)" "1" "0000497825" "00010380" "50" "125" "0" "125" "0" "c.125G>A" "r.(?)" "p.(Cys42Tyr)" "1" "0000497826" "00010380" "50" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Val44Met)" "1" "0000497827" "00010380" "50" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Ala45Ser)" "1" "0000497828" "00010380" "50" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Trp)" "1" "0000497829" "00010380" "50" "155" "0" "155" "0" "c.155A>C" "r.(?)" "p.(Gln52Pro)" "1" "0000497830" "00010380" "50" "173" "0" "173" "0" "c.173A>T" "r.(?)" "p.(Asp58Val)" "1" "0000497831" "00010380" "50" "179" "0" "179" "0" "c.179T>C" "r.(?)" "p.(Phe60Ser)" "1" "0000497832" "00010380" "50" "251" "0" "251" "0" "c.251T>G" "r.(?)" "p.(Leu84Arg)" "1" "0000497833" "00010380" "50" "287" "0" "287" "0" "c.287C>T" "r.(?)" "p.(Ala96Val)" "1" "0000497834" "00010380" "50" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(His97Tyr)" "1" "0000497835" "00010380" "50" "341" "0" "341" "0" "c.341T>C" "r.(?)" "p.(Ile114Thr)" "1" "0000497836" "00010380" "50" "344" "0" "344" "0" "c.344A>T" "r.(?)" "p.(His115Leu)" "1" "0000497837" "00010380" "50" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Ser118Leu)" "1" "0000497838" "00010380" "50" "362" "0" "362" "0" "c.362T>C" "r.(?)" "p.(Phe121Ser)" "1" "0000497839" "00010380" "50" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Val129Met)" "1" "0000497840" "00010380" "50" "391" "0" "393" "0" "c.391_393dup" "r.(?)" "p.(Ile131dup)" "1" "0000497841" "00010380" "50" "391" "0" "391" "0" "c.391A>G" "r.(?)" "p.(Ile131Val)" "1" "0000497842" "00010380" "50" "415" "0" "415" "0" "c.415A>C" "r.(?)" "p.(Thr139Pro)" "1" "0000497843" "00010380" "50" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Glu140Lys)" "1" "0000497844" "00010380" "50" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Cys142Tyr)" "1" "0000497845" "00010380" "50" "463" "0" "463" "0" "c.463G>T" "r.(?)" "p.(Val155Leu)" "1" "0000497846" "00010380" "50" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Val155Met)" "1" "0000497847" "00010380" "50" "469" "0" "469" "0" "c.469C>G" "r.(?)" "p.(Leu157Val)" "1" "0000497848" "00010380" "50" "480" "0" "480" "0" "c.480C>G" "r.(?)" "p.(Asn160Lys)" "1" "0000497849" "00010380" "50" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Leu164Phe)" "1" "0000497850" "00010380" "50" "499" "0" "499" "0" "c.499A>G" "r.(?)" "p.(Ile167Val)" "1" "0000497851" "00010380" "50" "512" "0" "512" "0" "c.512C>A" "r.(?)" "p.(Thr171Asn)" "1" "0000497852" "00010380" "50" "539" "0" "539" "0" "c.539C>T" "r.(?)" "p.(Thr180Ile)" "1" "0000497853" "00010380" "50" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Ser208Asn)" "1" "0000497854" "00010380" "50" "636" "0" "636" "0" "c.636C>T" "r.(?)" "p.(Ser212=)" "1" "0000497855" "00010380" "50" "664" "0" "664" "0" "c.664A>C" "r.(?)" "p.(Lys222Gln)" "1" "0000497856" "00010380" "50" "778" "0" "778" "0" "c.778G>C" "r.(?)" "p.(Val260Leu)" "1" "0000497857" "00010380" "50" "794" "0" "794" "0" "c.794G>T" "r.(?)" "p.(Ser265Ile)" "1" "0000497858" "00010380" "50" "802" "0" "802" "0" "c.802T>C" "r.(?)" "p.(Tyr268His)" "1" "0000497859" "00010380" "50" "820" "0" "820" "0" "c.820G>C" "r.(?)" "p.(Asp274His)" "1" "0000497860" "00010380" "50" "860" "0" "860" "0" "c.860T>C" "r.(?)" "p.(Leu287Pro)" "1" "0000497861" "00010380" "50" "890" "0" "890" "0" "c.890C>A" "r.(?)" "p.(Thr297Asn)" "1" "0000497862" "00010380" "50" "896" "0" "896" "0" "c.896A>G" "r.(?)" "p.(Gln299Arg)" "1" "0000497863" "00010380" "50" "899" "0" "899" "0" "c.899C>A" "r.(?)" "p.(Ala300Asp)" "1" "0000497864" "00010380" "50" "929" "0" "929" "0" "c.929T>C" "r.(?)" "p.(Leu310Pro)" "1" "0000497865" "00010380" "50" "952" "0" "952" "0" "c.952A>G" "r.(?)" "p.(Ile318Val)" "1" "0000497866" "00010380" "50" "973" "0" "973" "0" "c.973C>A" "r.(?)" "p.(Arg325Ser)" "1" "0000497867" "00010380" "50" "974" "0" "974" "0" "c.974G>A" "r.(?)" "p.(Arg325His)" "1" "0000497868" "00010380" "50" "1006" "0" "1006" "0" "c.1006A>G" "r.(?)" "p.(Thr336Ala)" "1" "0000497869" "00010380" "50" "1027" "0" "1027" "0" "c.1027C>G" "r.(?)" "p.(Leu343Val)" "1" "0000497870" "00010380" "50" "1105" "0" "1105" "0" "c.1105C>A" "r.(?)" "p.(Arg369Ser)" "1" "0000497871" "00010380" "50" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "1" "0000497872" "00010380" "50" "1106" "0" "1106" "0" "c.1106G>T" "r.(?)" "p.(Arg369Leu)" "1" "0000497873" "00010380" "50" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Val373Met)" "1" "0000497874" "00010380" "50" "1126" "0" "1126" "0" "c.1126G>T" "r.(?)" "p.(Ala376Ser)" "1" "0000497875" "00010380" "50" "1138" "0" "1143" "0" "c.1138_1143dup" "r.(?)" "p.(Pro380_Lys381dup)" "1" "0000543102" "00010380" "30" "1095" "0" "1095" "0" "c.1095C>T" "r.(?)" "p.(Arg365=)" "" "0000543103" "00010380" "50" "1084" "0" "1084" "0" "c.1084G>A" "r.(?)" "p.(Ala362Thr)" "" "0000543104" "00010380" "30" "1060" "0" "1060" "0" "c.1060A>G" "r.(?)" "p.(Ser354Gly)" "" "0000543105" "00010380" "50" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Arg301His)" "" "0000543107" "00010380" "50" "730" "0" "730" "0" "c.730G>A" "r.(?)" "p.(Val244Met)" "" "0000543108" "00010380" "50" "612" "0" "612" "0" "c.612C>A" "r.(?)" "p.(Asp204Glu)" "" "0000543109" "00010380" "30" "584" "0" "584" "0" "c.584G>A" "r.(?)" "p.(Arg195His)" "" "0000543110" "00010380" "30" "309" "0" "309" "0" "c.309C>T" "r.(?)" "p.(Ser103=)" "" "0000543111" "00010380" "50" "287" "0" "287" "0" "c.287C>T" "r.(?)" "p.(Ala96Val)" "" "0000543112" "00010380" "50" "92" "0" "92" "0" "c.92G>T" "r.(?)" "p.(Arg31Leu)" "" "0000543114" "00010380" "50" "-4917" "0" "-4917" "0" "c.-4917G>A" "r.(?)" "p.(=)" "" "0000543115" "00010380" "30" "-4927" "0" "-4927" "0" "c.-4927C>T" "r.(?)" "p.(=)" "" "0000543117" "00010380" "30" "-4943" "0" "-4943" "0" "c.-4943G>A" "r.(?)" "p.(=)" "" "0000543119" "00010380" "50" "-5022" "0" "-5022" "0" "c.-5022A>T" "r.(?)" "p.(=)" "" "0000543120" "00010380" "30" "-5049" "0" "-5049" "0" "c.-5049T>A" "r.(?)" "p.(=)" "" "0000543121" "00010380" "30" "-5052" "0" "-5052" "0" "c.-5052T>A" "r.(?)" "p.(=)" "" "0000543124" "00010380" "30" "-5651" "0" "-5651" "0" "c.-5651G>T" "r.(?)" "p.(=)" "" "0000543125" "00010380" "50" "-6176" "0" "-6176" "0" "c.-6176C>T" "r.(?)" "p.(=)" "" "0000543126" "00010380" "30" "-6235" "0" "-6235" "0" "c.-6235C>T" "r.(?)" "p.(=)" "" "0000613193" "00010380" "10" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Val337Ile)" "" "0000613194" "00010380" "50" "974" "0" "974" "0" "c.974G>C" "r.(?)" "p.(Arg325Pro)" "" "0000613195" "00010380" "90" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Arg301His)" "" "0000613196" "00010380" "10" "808" "0" "808" "0" "c.808C>G" "r.(?)" "p.(Leu270Val)" "" "0000613197" "00010380" "10" "801" "0" "801" "0" "c.801C>G" "r.(?)" "p.(Leu267=)" "" "0000613199" "00010380" "30" "186" "0" "186" "0" "c.186G>A" "r.(?)" "p.(Thr62=)" "" "0000613200" "00010380" "50" "67" "0" "67" "0" "c.67A>G" "r.(?)" "p.(Lys23Glu)" "" "0000622601" "00010380" "30" "843" "0" "843" "0" "c.843C>T" "r.(?)" "p.(Leu281=)" "" "0000648166" "00010380" "90" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Glu322Lys)" "" "0000653103" "00010380" "90" "602" "0" "602" "0" "c.602G>A" "r.(?)" "p.(Arg201His)" "" "0000673605" "00010380" "90" "602" "0" "602" "0" "c.602G>A" "r.(?)" "p.(Arg201His)" "" "0000673851" "00010380" "70" "527" "0" "527" "0" "c.527G>T" "r.(?)" "p.(Arg176Leu)" "" "0000673852" "00010380" "70" "426" "0" "426" "0" "c.426C>G" "r.(?)" "p.(Cys142Trp)" "" "0000673975" "00010380" "90" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Thr336Profs*24)" "" "0000679115" "00010380" "50" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Ala187Val)" "" "0000704548" "00010380" "50" "539" "0" "539" "0" "c.539C>T" "r.(?)" "p.(Thr180Ile)" "1" "0000723320" "00010380" "50" "973" "0" "973" "0" "c.973C>A" "r.(?)" "p.(Arg325Ser)" "" "0000723321" "00010380" "30" "817" "0" "817" "0" "c.817A>G" "r.(?)" "p.(Ser273Gly)" "" "0000723322" "00010380" "50" "-5606" "0" "-5606" "0" "c.-5606G>A" "r.(?)" "p.(=)" "" "0000852837" "00010380" "10" "1143" "0" "1143" "0" "c.1143G>A" "r.(?)" "p.(Lys381=)" "" "0000852838" "00010380" "50" "-6222" "0" "-6222" "0" "c.-6222A>G" "r.(?)" "p.(=)" "" "0000862381" "00010380" "90" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Glu322Lys)" "" "0000862382" "00010380" "30" "843" "0" "843" "0" "c.843C>T" "r.(?)" "p.(Leu281=)" "" "0000862383" "00010380" "50" "841" "0" "843" "0" "c.841_843del" "r.(?)" "p.(Leu281del)" "" "0000862384" "00010380" "50" "782" "0" "782" "0" "c.782T>C" "r.(?)" "p.(Ile261Thr)" "" "0000862385" "00010380" "90" "734" "0" "734" "0" "c.734del" "r.(?)" "p.(Gly245Valfs*11)" "" "0000862386" "00010380" "30" "690" "0" "690" "0" "c.690G>A" "r.(?)" "p.(Val230=)" "" "0000862387" "00010380" "30" "567" "0" "567" "0" "c.567C>T" "r.(?)" "p.(Ile189=)" "" "0000862388" "00010380" "30" "561" "0" "561" "0" "c.561G>A" "r.(?)" "p.(Ala187=)" "" "0000862389" "00010380" "70" "515" "0" "515" "0" "c.515C>G" "r.(?)" "p.(Ala172Gly)" "" "0000862390" "00010380" "50" "475" "0" "475" "0" "c.475A>G" "r.(?)" "p.(Ile159Val)" "" "0000862391" "00010380" "30" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Asn153=)" "" "0000862392" "00010380" "30" "337" "0" "337" "0" "c.337A>G" "r.(?)" "p.(Ser113Gly)" "" "0000862393" "00010380" "50" "302" "0" "302" "0" "c.302C>A" "r.(?)" "p.(Ala101Asp)" "" "0000862394" "00010380" "50" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Ala94Thr)" "" "0000862395" "00010380" "50" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Val44Met)" "" "0000862396" "00010380" "30" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Val13Met)" "" "0000862397" "00010380" "50" "15" "0" "15" "0" "c.15G>C" "r.(?)" "p.(Lys5Asn)" "" "0000862398" "00010380" "50" "11" "0" "11" "0" "c.11G>A" "r.(?)" "p.(Arg4His)" "" "0000862399" "00010380" "30" "-4999" "0" "-4999" "0" "c.-4999C>T" "r.(?)" "p.(=)" "" "0000862400" "00010380" "10" "-5044" "0" "-5044" "0" "c.-5044T>A" "r.(?)" "p.(=)" "" "0000862401" "00010380" "70" "-5606" "0" "-5606" "0" "c.-5606G>A" "r.(?)" "p.(=)" "" "0000862402" "00010380" "30" "-6161" "0" "-6161" "0" "c.-6161C>T" "r.(?)" "p.(=)" "" "0000862403" "00010380" "30" "-6162" "0" "-6162" "0" "c.-6162C>T" "r.(?)" "p.(=)" "" "0000862404" "00010380" "30" "-6205" "0" "-6205" "0" "c.-6205C>T" "r.(?)" "p.(=)" "" "0000889711" "00010380" "50" "974" "0" "974" "0" "c.974G>C" "r.(?)" "p.(Arg325Pro)" "" "0000889712" "00010380" "30" "788" "0" "788" "0" "c.788C>A" "r.(?)" "p.(Ala263Asp)" "" "0000889713" "00010380" "30" "753" "0" "753" "0" "c.753G>C" "r.(?)" "p.(Leu251=)" "" "0000889714" "00010380" "50" "733" "0" "733" "0" "c.733G>T" "r.(?)" "p.(Gly245Cys)" "" "0000889715" "00010380" "70" "612" "0" "612" "0" "c.612C>A" "r.(?)" "p.(Asp204Glu)" "" "0000889716" "00010380" "50" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Val13Met)" "" "0000889717" "00010380" "50" "-5031" "0" "-5031" "0" "c.-5031G>A" "r.(?)" "p.(=)" "" "0000913534" "00010380" "90" "356" "0" "356" "0" "c.356dup" "r.(?)" "p.(Ala120Cysfs*7)" "" "0000913535" "00010380" "50" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Gly98Ser)" "" "0000925347" "00010380" "50" "730" "0" "730" "0" "c.730G>A" "r.(?)" "p.(Val244Met)" "" "0000929824" "00010380" "50" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Val155Met)" "" "0000929825" "00010380" "50" "-4944" "0" "-4944" "0" "c.-4944C>T" "r.(?)" "p.(=)" "" "0000929826" "00010380" "30" "-6166" "0" "-6166" "0" "c.-6166T>C" "r.(?)" "p.(=)" "" "0000949618" "00010380" "50" "974" "0" "974" "0" "c.974G>C" "r.(?)" "p.(Arg325Pro)" "" "0000949619" "00010380" "90" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "" "0000949620" "00010380" "30" "678" "0" "678" "0" "c.678C>T" "r.(?)" "p.(=)" "" "0000966238" "00010380" "50" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Val373Met)" "" "0000966240" "00010380" "70" "612" "0" "612" "0" "c.612C>A" "r.(?)" "p.(Asp204Glu)" "" "0000966242" "00010380" "50" "-4966" "0" "-4966" "0" "c.-4966T>A" "r.(?)" "p.(=)" "" "0000979480" "00010380" "50" "1106" "0" "1106" "0" "c.1106G>T" "r.(?)" "p.(Arg369Leu)" "" "0000979481" "00010380" "50" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Val290Met)" "" "0000979482" "00010380" "50" "820" "0" "820" "0" "c.820G>T" "r.(?)" "p.(Asp274Tyr)" "" "0000979483" "00010380" "50" "405" "0" "405" "0" "c.405dup" "r.(?)" "p.(Arg136Alafs*5)" "" "0000979484" "00010380" "50" "140" "0" "140" "0" "c.140A>G" "r.(?)" "p.(Lys47Arg)" "" "0000979485" "00010380" "30" "66" "0" "66" "0" "c.66C>T" "r.(?)" "p.(=)" "" "0000987543" "00010380" "70" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Ala187Val)" "1" "0000998903" "00010380" "50" "1125" "0" "1125" "0" "c.1125G>A" "r.(?)" "p.(Met375Ile)" "" "0000998904" "00010380" "50" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371His)" "" "0000998905" "00010380" "50" "1103" "0" "1103" "0" "c.1103T>C" "r.(?)" "p.(Leu368Pro)" "" "0000998906" "00010380" "30" "1093" "0" "1093" "0" "c.1093C>T" "r.(?)" "p.(Arg365Cys)" "" "0000998907" "00010380" "30" "1084" "0" "1084" "0" "c.1084G>A" "r.(?)" "p.(Ala362Thr)" "" "0000998908" "00010380" "90" "902" "0" "902" "0" "c.902G>C" "r.(?)" "p.(Arg301Pro)" "" "0000998909" "00010380" "50" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Asp274Asn)" "" "0000998910" "00010380" "50" "287" "0" "287" "0" "c.287C>T" "r.(?)" "p.(Ala96Val)" "" "0001014769" "00010380" "50" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Gly295Ser)" "" "0001014770" "00010380" "50" "375" "0" "375" "0" "c.375T>G" "r.(?)" "p.(Ile125Met)" "" "0001025941" "00010380" "30" "279" "0" "279" "0" "c.279C>T" "r.(?)" "p.(=)" "" "0001025942" "00010380" "50" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Trp)" "" "0001038367" "00010380" "50" "-4913" "0" "-4913" "0" "c.-4913G>A" "r.(?)" "p.(=)" "" "0001046295" "00010380" "50" "-5607" "0" "-5607" "0" "c.-5607C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 93 "{{screeningid}}" "{{variantid}}" "0000214115" "0000446039" "0000245622" "0000497792" "0000245623" "0000497793" "0000245624" "0000497794" "0000245625" "0000497795" "0000245626" "0000497796" "0000245627" "0000497797" "0000245628" "0000497798" "0000245629" "0000497799" "0000245630" "0000497800" "0000245631" "0000497801" "0000245632" "0000497802" "0000245633" "0000497803" "0000245634" "0000497804" "0000245635" "0000497805" "0000245636" "0000497806" "0000245637" "0000497807" "0000245638" "0000497808" "0000245639" "0000497809" "0000245640" "0000497810" "0000245641" "0000497811" "0000245642" "0000497812" "0000245643" "0000497813" "0000245644" "0000497814" "0000245645" "0000497815" "0000245646" "0000497816" "0000245647" "0000497817" "0000245648" "0000497818" "0000245649" "0000497819" "0000245650" "0000497820" "0000245651" "0000497821" "0000245652" "0000497822" "0000245653" "0000497823" "0000245654" "0000497824" "0000245655" "0000497825" "0000245656" "0000497826" "0000245657" "0000497827" "0000245658" "0000497828" "0000245659" "0000497829" "0000245660" "0000497830" "0000245661" "0000497831" "0000245662" "0000497832" "0000245663" "0000497833" "0000245664" "0000497834" "0000245665" "0000497835" "0000245666" "0000497836" "0000245667" "0000497837" "0000245668" "0000497838" "0000245669" "0000497839" "0000245670" "0000497840" "0000245671" "0000497841" "0000245672" "0000497842" "0000245673" "0000497843" "0000245674" "0000497844" "0000245675" "0000497845" "0000245676" "0000497846" "0000245677" "0000497847" "0000245678" "0000497848" "0000245679" "0000497849" "0000245680" "0000497850" "0000245681" "0000497851" "0000245682" "0000497852" "0000245683" "0000497853" "0000245684" "0000497854" "0000245685" "0000497855" "0000245686" "0000497856" "0000245687" "0000497857" "0000245688" "0000497858" "0000245689" "0000497859" "0000245690" "0000497860" "0000245691" "0000497861" "0000245692" "0000497862" "0000245693" "0000497863" "0000245694" "0000497864" "0000245695" "0000497865" "0000245696" "0000497866" "0000245697" "0000497867" "0000245698" "0000497868" "0000245699" "0000497869" "0000245700" "0000497870" "0000245701" "0000497871" "0000245702" "0000497872" "0000245703" "0000497873" "0000245704" "0000497874" "0000245705" "0000497875" "0000291477" "0000648166" "0000296414" "0000653103" "0000307064" "0000673605" "0000307260" "0000673851" "0000307260" "0000673852" "0000307350" "0000673975" "0000321629" "0000704548" "0000453042" "0000987543"