### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCNJ5) # 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}}" "KCNJ5" "potassium inwardly-rectifying channel, subfamily J, member 5" "11" "q24" "unknown" "LRG_333" "UD_132084508373" "" "http://www.LOVD.nl/KCNJ5" "" "1" "6266" "3762" "600734" "1" "1" "1" "1" "Establishment of this database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/KCNJ5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2015-11-23 06:52:09" "00000" "2025-09-12 15:34:03" ## 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}}" "00010375" "KCNJ5" "potassium inwardly-rectifying channel, subfamily J, member 5" "001" "NM_000890.3" "" "NP_000881.3" "" "" "" "-314" "2598" "1260" "128761313" "128787964" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03344" "LQT13" "QT syndrome, long, type 13 (LQT-13)" "AD" "613485" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03388" "HALD3;FH3" "hyperaldosteronism, familial, type III (HALD-3, FH-3)" "AD" "613677" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05232" "APA" "adenoma, adrenal aldosterone-producing (APA)" "" "" "" "" "" "00006" "2017-03-05 15:11:47" "00006" "2017-03-05 15:13:07" "05320" "BMD" "dystrophy, muscular, Becker type (BMD)" "XLR" "300376" "" "" "" "00006" "2017-09-01 12:37:01" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "KCNJ5" "03344" "KCNJ5" "03388" "KCNJ5" "05232" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00043778" "" "" "00043766" "1" "" "01337" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "F" "?" "Denmark" "00y01m" "0" "" "" "Denmark" "" "00043785" "" "" "00043766" "1" "" "01337" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "F" "?" "Denmark" "00y01m" "0" "" "" "Denmark" "" "00054781" "" "" "" "1" "" "01468" "{PMID:Sertedaki 2016:27293068}" "" "M" "" "Greece" "" "0" "" "" "" "Pat1" "00054782" "" "" "" "1" "" "01468" "{PMID:Sertedaki 2016:27293068}" "" "F" "" "Greece" "" "0" "" "" "" "Pat2" "00054786" "" "" "" "10" "" "01251" "{PMID:Yang 2010:20560207}" "4-generation family, 10 affecteds (7F, 3M)" "" "" "China" "" "0" "" "" "" "" "00174423" "" "" "" "2" "" "00006" "{PMID:Perez-Sanchez 2018:29984652}" "3-generation family" "M" "" "Spain" "" "0" "" "" "" "29984652-FamPat" "00174424" "" "" "00174423" "1" "" "00006" "{PMID:Perez-Sanchez 2018:29984652}" "grandfather" "M" "" "Spain" "" "0" "" "" "" "29984652-FamPat2" "00228262" "" "" "" "3" "" "00006" "{PMID:Perez-Sanchez 2018:29984652}" "3-generation family, asymptomatic carrier mother/maternal grandfather" "M" "" "Spain" "" "0" "" "" "" "patient" "00265409" "" "" "" "1" "" "03430" "{PMID:Zhang 2020:32075693}" "" "M" "" "China" "" "0" "" "" "" "patient" "00290306" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290307" "" "" "" "51" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307304" "" "" "" "1" "" "02396" "{PMID:Hiraide 2021:33199157}" "" "M" "no" "Japan" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00043778" "02087" "00043785" "02087" "00054781" "00198" "00054782" "00198" "00054786" "03344" "00174423" "05320" "00174424" "00000" "00228262" "00198" "00265409" "00198" "00290306" "00198" "00290307" "00198" "00307304" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 02087, 03344, 03388, 05232, 05320 ## Count = 11 "{{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}}" "0000041460" "03344" "00054786" "01251" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050824" "02087" "00043778" "01337" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050825" "02087" "00043785" "01337" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139250" "05320" "00174423" "00006" "Familial, X-linked recessive" "" "inherited cardiomyopathy, Becker muscular dystrophy in family; 12y-asymmetric left ventricular hypertrophy, long QT interval, mild muscular weakness developed subsequently" "05y" "" "psychomotor retardation" "" "" "" "" "" "BMD" "BMD" "" "0000139251" "00000" "00174424" "00006" "Unknown" "80y" "no cardiomyopathy, no muscular weakness" "" "" "" "" "" "" "" "" "" "" "" "0000172191" "00352" "00228262" "00006" "Unknown" "24y" "see paper; …" "" "" "" "" "" "" "" "" "" "idiopathic dilated cardiomyopathy" "" "0000172213" "00198" "00228262" "00006" "Familial, autosomal recessive" "" "see paper; ..., 5y-psychomotor retardation; 12y-asymmetric left ventricular hypertrophy, long QT interval; mild muscular weakness developed subsequently" "05y" "" "" "" "" "" "" "" "BMD" "psychomotor retardation" "" "0000187180" "00198" "00054781" "00006" "Unknown" "" "essential hypertension, primary aldosteronism, ACTH- and/or angiotensin II-dependent aldosterone hypersecretion" "" "" "" "" "" "" "" "" "" "hypertension" "" "0000187181" "00198" "00054782" "00006" "Unknown" "" "essential hypertension, primary aldosteronism, ACTH- and/or angiotensin II-dependent aldosterone hypersecretion" "" "" "" "" "" "" "" "" "" "hypertension" "" "0000229658" "00198" "00265409" "00006" "-" "" "see paper; ..., primary aldosteronism with subclinical Cushing’s syndrome" "" "" "" "" "" "" "" "" "" "aldosteronism" "" "0000233232" "00198" "00307304" "02396" "Familial, autosomal dominant" "09y" "periodic paralysis (HP:0003768), no hypokalemic periodic paralysis (HP:0008153), no hyperkalemic periodic paralysis (HP:0007215)" "03y" "" "" "" "" "" "" "" "" "periodic paralysis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000044021" "00043778" "1" "01337" "01337" "2015-06-19 14:02:08" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000044028" "00043785" "1" "01337" "01337" "2015-06-19 14:33:43" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000054729" "00054781" "1" "01468" "01468" "2015-11-20 10:17:19" "" "" "SEQ" "DNA" "" "" "0000054730" "00054782" "1" "01468" "01468" "2015-11-20 10:37:51" "" "" "SEQ" "DNA" "" "" "0000054734" "00054786" "1" "00006" "00006" "2015-11-22 03:23:48" "" "" "SEQ" "DNA" "" "" "0000175314" "00174423" "1" "00006" "00006" "2018-08-09 23:37:34" "" "" "SEQ" "DNA" "" "" "0000175315" "00174424" "1" "00006" "00006" "2018-08-09 23:47:52" "" "" "SEQ" "DNA" "" "" "0000229352" "00228262" "1" "00006" "00006" "2019-03-22 14:14:33" "00006" "2019-03-22 16:47:56" "SEQ" "DNA" "" "gene panel" "0000266535" "00265409" "1" "03430" "03430" "2019-09-25 08:20:38" "" "" "SEQ-NG-I" "DNA" "" "" "0000291474" "00290306" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291475" "00290307" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308446" "00307304" "1" "02396" "02396" "2020-08-10 10:52:39" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000054729" "KCNJ5" "0000054730" "KCNJ5" "0000054734" "KCNJ5" "0000175314" "DMD" "0000175314" "KCNJ5" "0000175314" "MYBPC3" "0000175315" "DMD" "0000175315" "KCNJ5" "0000229352" "DMD" "0000308446" "KCNJ5" ## 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 = 69 "{{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}}" "0000071825" "0" "70" "11" "128781316" "128781316" "subst" "1.21819E-5" "01337" "KCNJ5_000006" "g.128781316C>T" "" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "" "variant assumed de novo" "De novo" "?" "" "0" "" "" "g.128911421C>T" "" "likely pathogenic" "" "0000071834" "1" "70" "11" "128781799" "128781799" "subst" "3.2803E-5" "01337" "KCNJ5_000007" "g.128781799C>T" "" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "" "" "Germline" "?" "" "0" "" "" "g.128911904C>T" "" "likely pathogenic" "" "0000084718" "1" "70" "11" "128781943" "128781943" "subst" "1.22189E-5" "01468" "KCNJ5_000008" "g.128781943G>A" "" "{PMID:Sertedaki 2016:27293068}" "" "" "" "Germline" "" "" "0" "" "" "g.128912048G>A" "" "likely pathogenic" "" "0000084719" "1" "70" "11" "128786408" "128786408" "subst" "0" "01468" "KCNJ5_000009" "g.128786408T>A" "" "{PMID:Sertedaki 2016:27293068}" "" "" "" "Germline" "" "" "0" "" "" "g.128916513T>A" "" "likely pathogenic" "" "0000084723" "21" "90" "11" "128786525" "128786525" "subst" "0.000159138" "01251" "KCNJ5_000005" "g.128786525G>C" "" "{PMID:Yang 2010:20560207}" "" "1473G>C (Gly387Arg)" "mapped by linkage analysis" "Germline" "yes" "" "0" "" "" "g.128916630G>C" "" "pathogenic" "" "0000278363" "0" "50" "11" "128786517" "128786517" "subst" "0" "02330" "KCNJ5_000021" "g.128786517C>A" "" "" "" "KCNJ5(NM_000890.5):c.1151C>A (p.P384Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128916622C>A" "" "VUS" "" "0000278364" "0" "10" "11" "128781339" "128781339" "subst" "0.840022" "02330" "KCNJ5_000011" "g.128781339T>C" "" "" "" "KCNJ5(NM_000890.5):c.171T>C (p.S57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128911444T>C" "" "benign" "" "0000278365" "0" "10" "11" "128781441" "128781441" "subst" "0.000203028" "02330" "KCNJ5_000012" "g.128781441C>T" "" "" "" "KCNJ5(NM_000890.5):c.273C>T (p.L91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128911546C>T" "" "benign" "" "0000278366" "0" "50" "11" "128781442" "128781442" "subst" "1.62423E-5" "02330" "KCNJ5_000013" "g.128781442G>A" "" "" "" "KCNJ5(NM_000890.5):c.274G>A (p.V92I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128911547G>A" "" "VUS" "" "0000278368" "0" "50" "11" "128781907" "128781907" "subst" "8.55432E-5" "02330" "KCNJ5_000015" "g.128781907G>A" "" "" "" "KCNJ5(NM_001354169.2):c.739G>A (p.G247R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128912012G>A" "" "VUS" "" "0000278369" "0" "10" "11" "128781978" "128781978" "subst" "0.838081" "02330" "KCNJ5_000016" "g.128781978T>G" "" "" "" "KCNJ5(NM_000890.3):c.810T>G (p.L270=), KCNJ5(NM_000890.5):c.810T>G (p.L270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128912083T>G" "" "benign" "" "0000278370" "0" "10" "11" "128782002" "128782002" "subst" "0.838273" "02330" "KCNJ5_000017" "g.128782002T>C" "" "" "" "KCNJ5(NM_000890.3):c.834T>C (p.H278=), KCNJ5(NM_000890.5):c.834T>C (p.H278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128912107T>C" "" "benign" "" "0000278371" "0" "10" "11" "128782012" "128782012" "subst" "0.987689" "02330" "KCNJ5_000018" "g.128782012C>G" "" "" "" "KCNJ5(NM_000890.3):c.844C>G (p.Q282E), KCNJ5(NM_000890.5):c.844C>G (p.Q282E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128912117C>G" "" "benign" "" "0000278372" "0" "10" "11" "128782112" "128782112" "subst" "0.0294463" "02330" "KCNJ5_000019" "g.128782112C>T" "" "" "" "KCNJ5(NM_000890.5):c.937+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128912217C>T" "" "benign" "" "0000278373" "0" "10" "11" "128786294" "128786294" "subst" "0.73102" "02330" "KCNJ5_000020" "g.128786294G>A" "" "" "" "KCNJ5(NM_000890.5):c.938-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128916399G>A" "" "benign" "" "0000281719" "0" "10" "11" "128781339" "128781339" "subst" "0.840022" "02325" "KCNJ5_000011" "g.128781339T>C" "" "" "" "KCNJ5(NM_000890.5):c.171T>C (p.S57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128911444T>C" "" "benign" "" "0000281720" "0" "10" "11" "128781978" "128781978" "subst" "0.838081" "02325" "KCNJ5_000016" "g.128781978T>G" "" "" "" "KCNJ5(NM_000890.3):c.810T>G (p.L270=), KCNJ5(NM_000890.5):c.810T>G (p.L270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128912083T>G" "" "benign" "" "0000281721" "0" "10" "11" "128782002" "128782002" "subst" "0.838273" "02325" "KCNJ5_000017" "g.128782002T>C" "" "" "" "KCNJ5(NM_000890.3):c.834T>C (p.H278=), KCNJ5(NM_000890.5):c.834T>C (p.H278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128912107T>C" "" "benign" "" "0000281722" "0" "10" "11" "128782012" "128782012" "subst" "0.987689" "02325" "KCNJ5_000018" "g.128782012C>G" "" "" "" "KCNJ5(NM_000890.3):c.844C>G (p.Q282E), KCNJ5(NM_000890.5):c.844C>G (p.Q282E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128912117C>G" "" "benign" "" "0000281723" "0" "10" "11" "128786294" "128786294" "subst" "0.73102" "02325" "KCNJ5_000020" "g.128786294G>A" "" "" "" "KCNJ5(NM_000890.5):c.938-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128916399G>A" "" "benign" "" "0000285520" "0" "50" "11" "128781632" "128781632" "subst" "4.06075E-6" "02326" "KCNJ5_000014" "g.128781632G>A" "" "" "" "KCNJ5(NM_000890.3):c.464G>A (p.R155Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128911737G>A" "" "VUS" "" "0000285521" "0" "70" "11" "128781799" "128781799" "subst" "3.2803E-5" "02326" "KCNJ5_000007" "g.128781799C>T" "" "" "" "KCNJ5(NM_000890.3):c.631C>T (p.R211W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128911904C>T" "" "likely pathogenic" "" "0000285522" "0" "10" "11" "128781978" "128781978" "subst" "0.838081" "02326" "KCNJ5_000016" "g.128781978T>G" "" "" "" "KCNJ5(NM_000890.3):c.810T>G (p.L270=), KCNJ5(NM_000890.5):c.810T>G (p.L270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128912083T>G" "" "benign" "" "0000285523" "0" "10" "11" "128782002" "128782002" "subst" "0.838273" "02326" "KCNJ5_000017" "g.128782002T>C" "" "" "" "KCNJ5(NM_000890.3):c.834T>C (p.H278=), KCNJ5(NM_000890.5):c.834T>C (p.H278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128912107T>C" "" "benign" "" "0000285524" "0" "10" "11" "128782012" "128782012" "subst" "0.987689" "02326" "KCNJ5_000018" "g.128782012C>G" "" "" "" "KCNJ5(NM_000890.3):c.844C>G (p.Q282E), KCNJ5(NM_000890.5):c.844C>G (p.Q282E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128912117C>G" "" "benign" "" "0000337114" "0" "10" "11" "128782112" "128782112" "subst" "0.0294463" "02327" "KCNJ5_000019" "g.128782112C>T" "" "" "" "KCNJ5(NM_000890.5):c.937+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128912217C>T" "" "benign" "" "0000337115" "0" "10" "11" "128786294" "128786294" "subst" "0.73102" "02327" "KCNJ5_000020" "g.128786294G>A" "" "" "" "KCNJ5(NM_000890.5):c.938-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128916399G>A" "" "benign" "" "0000339379" "0" "30" "11" "128781312" "128781312" "subst" "7.71536E-5" "02327" "KCNJ5_000022" "g.128781312G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128911417G>A" "" "likely benign" "" "0000339380" "0" "30" "11" "128781834" "128781834" "subst" "4.22504E-6" "02327" "KCNJ5_000024" "g.128781834C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128911939C>T" "" "likely benign" "" "0000340807" "0" "10" "11" "128782002" "128782002" "subst" "0.838273" "02327" "KCNJ5_000017" "g.128782002T>C" "" "" "" "KCNJ5(NM_000890.3):c.834T>C (p.H278=), KCNJ5(NM_000890.5):c.834T>C (p.H278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128912107T>C" "" "benign" "" "0000340845" "0" "10" "11" "128781978" "128781978" "subst" "0.838081" "02327" "KCNJ5_000016" "g.128781978T>G" "" "" "" "KCNJ5(NM_000890.3):c.810T>G (p.L270=), KCNJ5(NM_000890.5):c.810T>G (p.L270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128912083T>G" "" "benign" "" "0000340968" "0" "10" "11" "128781339" "128781339" "subst" "0.840022" "02327" "KCNJ5_000011" "g.128781339T>C" "" "" "" "KCNJ5(NM_000890.5):c.171T>C (p.S57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128911444T>C" "" "benign" "" "0000345743" "0" "90" "11" "128781620" "128781620" "subst" "0" "02327" "KCNJ5_000023" "g.128781620G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128911725G>A" "" "pathogenic" "" "0000395190" "0" "50" "11" "128781956" "128781956" "subst" "8.16853E-6" "00006" "KCNJ5_000025" "g.128781956C>T" "" "{PMID:Perez-Sanchez 2018:29984652}" "" "" "" "Germline" "" "" "0" "" "" "g.128912061C>T" "" "VUS" "" "0000395191" "21" "50" "11" "128781956" "128781956" "subst" "8.16853E-6" "00006" "KCNJ5_000025" "g.128781956C>T" "" "{PMID:Perez-Sanchez 2018:29984652}" "" "" "" "Germline" "" "" "0" "" "" "g.128912061C>T" "" "VUS" "" "0000470556" "21" "50" "11" "128781956" "128781956" "subst" "8.16853E-6" "00006" "KCNJ5_000025" "g.128781956C>T" "" "{PMID:Perez-Sanchez 2018:29984652}" "" "Thr263Met" "" "Germline" "" "" "0" "" "" "g.128912061C>T" "" "VUS" "" "0000543000" "0" "10" "11" "128761332" "128761337" "del" "0" "02327" "C11orf45_000001" "g.128761332_128761337del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128891437_128891442del" "" "benign" "" "0000543001" "0" "10" "11" "128761338" "128761338" "subst" "0" "02327" "C11orf45_000002" "g.128761338G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128891443G>C" "" "benign" "" "0000543002" "0" "30" "11" "128761425" "128761430" "del" "0" "02327" "C11orf45_000003" "g.128761425_128761430del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128891530_128891535del" "" "likely benign" "" "0000543003" "0" "50" "11" "128781172" "128781172" "dup" "0" "02330" "C11orf45_000004" "g.128781172dup" "" "" "" "KCNJ5(NM_000890.5):c.4dupG (p.A2Gfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128911277dup" "" "VUS" "" "0000543004" "0" "30" "11" "128781289" "128781289" "subst" "0.00108422" "02330" "C11orf45_000005" "g.128781289C>T" "" "" "" "KCNJ5(NM_000890.3):c.121C>T (p.R41C), KCNJ5(NM_000890.5):c.121C>T (p.R41C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128911394C>T" "" "likely benign" "" "0000543005" "0" "30" "11" "128781289" "128781289" "subst" "0.00108422" "02326" "C11orf45_000005" "g.128781289C>T" "" "" "" "KCNJ5(NM_000890.3):c.121C>T (p.R41C), KCNJ5(NM_000890.5):c.121C>T (p.R41C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128911394C>T" "" "likely benign" "" "0000543006" "0" "30" "11" "128781301" "128781301" "subst" "6.4973E-5" "02326" "C11orf45_000006" "g.128781301G>A" "" "" "" "KCNJ5(NM_000890.3):c.133G>A (p.E45K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128911406G>A" "" "likely benign" "" "0000543007" "0" "10" "11" "128781360" "128781360" "subst" "0.000475127" "02330" "C11orf45_000007" "g.128781360C>T" "" "" "" "KCNJ5(NM_000890.3):c.192C>T (p.H64=), KCNJ5(NM_000890.5):c.192C>T (p.H64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128911465C>T" "" "benign" "" "0000543008" "0" "50" "11" "128781961" "128781961" "subst" "0" "02330" "C11orf45_000008" "g.128781961G>A" "" "" "" "KCNJ5(NM_000890.5):c.793G>A (p.D265N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128912066G>A" "" "VUS" "" "0000543009" "0" "10" "11" "128786284" "128786284" "subst" "8.17067E-6" "02330" "C11orf45_000009" "g.128786284T>C" "" "" "" "KCNJ5(NM_000890.5):c.938-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128916389T>C" "" "benign" "" "0000613164" "0" "30" "11" "128781290" "128781290" "subst" "6.49715E-5" "02327" "C11orf45_000010" "g.128781290G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128911395G>A" "" "likely benign" "" "0000613165" "0" "70" "11" "128781403" "128781403" "subst" "4.06065E-6" "02327" "C11orf45_000011" "g.128781403A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128911508A>G" "" "likely pathogenic" "" "0000613166" "0" "30" "11" "128781577" "128781577" "subst" "4.06055E-6" "01804" "C11orf45_000012" "g.128781577G>A" "" "" "" "KCNJ5(NM_000890.3):c.409G>A (p.(Val137Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128911682G>A" "" "likely benign" "" "0000613167" "0" "50" "11" "128781784" "128781784" "subst" "1.62946E-5" "02327" "C11orf45_000013" "g.128781784G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128911889G>A" "" "VUS" "" "0000613168" "0" "10" "11" "128781978" "128781978" "subst" "0" "02327" "C11orf45_000014" "g.128781978T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128912083T>C" "" "benign" "" "0000613169" "0" "30" "11" "128782012" "128782012" "subst" "1.23608E-5" "02327" "C11orf45_000015" "g.128782012C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128912117C>A" "" "likely benign" "" "0000613170" "0" "30" "11" "128782023" "128782023" "subst" "0" "02327" "C11orf45_000016" "g.128782023T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128912128T>G" "" "likely benign" "" "0000613171" "0" "10" "11" "128786293" "128786293" "subst" "0.000856521" "02330" "C11orf45_000017" "g.128786293C>T" "" "" "" "KCNJ5(NM_000890.3):c.938-11C>T, KCNJ5(NM_001354169.2):c.938-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128916398C>T" "" "benign" "" "0000648163" "1" "30" "11" "128781289" "128781289" "subst" "0.00108422" "03575" "C11orf45_000005" "g.128781289C>T" "12/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs115012103}" "Germline" "" "rs115012103" "0" "" "" "g.128911394C>T" "" "likely benign" "" "0000648164" "1" "10" "11" "128782112" "128782112" "subst" "0.0294463" "03575" "KCNJ5_000019" "g.128782112C>T" "51/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "51 heterozygous, no homozygous; {DB:CLININrs45516097}" "Germline" "" "rs45516097" "0" "" "" "g.128912217C>T" "" "benign" "" "0000667068" "0" "90" "11" "128781671" "128781671" "subst" "0" "03430" "KCNJ5_000026" "g.128781671T>G" "" "{PMID:Zhang 2020:32075693}" "" "" "" "Somatic" "" "" "0" "" "" "g.128911776T>G" "" "pathogenic" "" "0000679107" "0" "50" "11" "128781515" "128781515" "subst" "0" "02326" "C11orf45_000018" "g.128781515G>A" "" "" "" "KCNJ5(NM_000890.3):c.347G>A (p.G116D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682853" "21" "70" "11" "128786525" "128786525" "subst" "0.000159138" "02396" "KCNJ5_000005" "g.128786525G>C" "" "{PMID:Hiraide 2021:33199157}" "" "" "likely benign based on ACMG guidelines, but functional studies showed near complete loss of channel activity; variant segregated from affected mother so we concluded the variant is likely to be causative for their periodic paralysis phenotype" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (!)" "ACMG" "0000690988" "0" "10" "11" "128786323" "128786323" "subst" "0.00104899" "02330" "C11orf45_000019" "g.128786323G>A" "" "" "" "KCNJ5(NM_000890.3):c.957G>A (p.R319=), KCNJ5(NM_001354169.2):c.957G>A (p.R319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723311" "0" "10" "11" "128786603" "128786603" "subst" "4.35593E-6" "02330" "C11orf45_000020" "g.128786603A>C" "" "" "" "KCNJ5(NM_001354169.2):c.1237A>C (p.R413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889697" "0" "10" "11" "128786323" "128786323" "subst" "0.00104899" "02326" "C11orf45_000019" "g.128786323G>A" "" "" "" "KCNJ5(NM_000890.3):c.957G>A (p.R319=), KCNJ5(NM_001354169.2):c.957G>A (p.R319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913529" "0" "10" "11" "128781360" "128781360" "subst" "0.000475127" "02326" "C11orf45_000007" "g.128781360C>T" "" "" "" "KCNJ5(NM_000890.3):c.192C>T (p.H64=), KCNJ5(NM_000890.5):c.192C>T (p.H64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929822" "0" "30" "11" "128786293" "128786293" "subst" "0.000856521" "02326" "C11orf45_000017" "g.128786293C>T" "" "" "" "KCNJ5(NM_000890.3):c.938-11C>T, KCNJ5(NM_001354169.2):c.938-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949611" "0" "50" "11" "128781278" "128781278" "subst" "0" "02327" "C11orf45_000021" "g.128781278C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949612" "0" "50" "11" "128781515" "128781515" "subst" "0" "02327" "C11orf45_000018" "g.128781515G>A" "" "" "" "KCNJ5(NM_000890.3):c.347G>A (p.G116D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979445" "0" "50" "11" "128781723" "128781723" "subst" "8.12249E-6" "02326" "C11orf45_000022" "g.128781723C>A" "" "" "" "KCNJ5(NM_000890.3):c.555C>A (p.C185*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038324" "0" "30" "11" "128781340" "128781340" "subst" "1.62439E-5" "02325" "C11orf45_000023" "g.128781340G>A" "" "" "" "KCNJ5(NM_000890.5):c.172G>A (p.G58S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047985" "0" "50" "11" "128786440" "128786440" "subst" "0" "03779" "KCNJ5_000027" "g.128786440C>A" "" "" "" "" "" "Unknown" "" "rs2136003967" "0" "" "" "" "" "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 KCNJ5 ## Count = 69 "{{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}}" "0000071825" "00010375" "70" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Cys)" "2" "0000071834" "00010375" "70" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Arg211Trp)" "2" "0000084718" "00010375" "70" "775" "0" "775" "0" "c.775G>A" "r.(?)" "p.(Val259Met)" "2" "0000084719" "00010375" "70" "1042" "0" "1042" "0" "c.1042T>A" "r.(?)" "p.(Tyr348Asn)" "3" "0000084723" "00010375" "90" "1159" "0" "1159" "0" "c.1159G>C" "r.(?)" "p.(Gly387Arg)" "3" "0000278363" "00010375" "50" "1151" "0" "1151" "0" "c.1151C>A" "r.(?)" "p.(Pro384Gln)" "" "0000278364" "00010375" "10" "171" "0" "171" "0" "c.171T>C" "r.(?)" "p.(Ser57=)" "" "0000278365" "00010375" "10" "273" "0" "273" "0" "c.273C>T" "r.(?)" "p.(Leu91=)" "" "0000278366" "00010375" "50" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Ile)" "" "0000278368" "00010375" "50" "739" "0" "739" "0" "c.739G>A" "r.(?)" "p.(Gly247Arg)" "" "0000278369" "00010375" "10" "810" "0" "810" "0" "c.810T>G" "r.(?)" "p.(Leu270=)" "" "0000278370" "00010375" "10" "834" "0" "834" "0" "c.834T>C" "r.(?)" "p.(His278=)" "" "0000278371" "00010375" "10" "844" "0" "844" "0" "c.844C>G" "r.(?)" "p.(Gln282Glu)" "" "0000278372" "00010375" "10" "937" "7" "937" "7" "c.937+7C>T" "r.(=)" "p.(=)" "" "0000278373" "00010375" "10" "938" "-10" "938" "-10" "c.938-10G>A" "r.(=)" "p.(=)" "" "0000281719" "00010375" "10" "171" "0" "171" "0" "c.171T>C" "r.(?)" "p.(Ser57=)" "" "0000281720" "00010375" "10" "810" "0" "810" "0" "c.810T>G" "r.(?)" "p.(Leu270=)" "" "0000281721" "00010375" "10" "834" "0" "834" "0" "c.834T>C" "r.(?)" "p.(His278=)" "" "0000281722" "00010375" "10" "844" "0" "844" "0" "c.844C>G" "r.(?)" "p.(Gln282Glu)" "" "0000281723" "00010375" "10" "938" "-10" "938" "-10" "c.938-10G>A" "r.(=)" "p.(=)" "" "0000285520" "00010375" "50" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155Gln)" "" "0000285521" "00010375" "70" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Arg211Trp)" "" "0000285522" "00010375" "10" "810" "0" "810" "0" "c.810T>G" "r.(?)" "p.(Leu270=)" "" "0000285523" "00010375" "10" "834" "0" "834" "0" "c.834T>C" "r.(?)" "p.(His278=)" "" "0000285524" "00010375" "10" "844" "0" "844" "0" "c.844C>G" "r.(?)" "p.(Gln282Glu)" "" "0000337114" "00010375" "10" "937" "7" "937" "7" "c.937+7C>T" "r.(=)" "p.(=)" "" "0000337115" "00010375" "10" "938" "-10" "938" "-10" "c.938-10G>A" "r.(=)" "p.(=)" "" "0000339379" "00010375" "30" "144" "0" "144" "0" "c.144G>A" "r.(?)" "p.(Lys48=)" "" "0000339380" "00010375" "30" "666" "0" "666" "0" "c.666C>T" "r.(?)" "p.(Gly222=)" "" "0000340807" "00010375" "10" "834" "0" "834" "0" "c.834T>C" "r.(?)" "p.(His278=)" "" "0000340845" "00010375" "10" "810" "0" "810" "0" "c.810T>G" "r.(?)" "p.(Leu270=)" "" "0000340968" "00010375" "10" "171" "0" "171" "0" "c.171T>C" "r.(?)" "p.(Ser57=)" "" "0000345743" "00010375" "90" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Gly151Glu)" "" "0000395190" "00010375" "50" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Thr263Met)" "2" "0000395191" "00010375" "50" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Thr263Met)" "2" "0000470556" "00010375" "50" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Thr263Met)" "" "0000543000" "00010375" "10" "-295" "0" "-290" "0" "c.-295_-290del" "r.(?)" "p.(=)" "" "0000543001" "00010375" "10" "-289" "0" "-289" "0" "c.-289G>C" "r.(?)" "p.(=)" "" "0000543002" "00010375" "30" "-202" "0" "-197" "0" "c.-202_-197del" "r.(?)" "p.(=)" "" "0000543003" "00010375" "50" "4" "0" "4" "0" "c.4dup" "r.(?)" "p.(Ala2GlyfsTer5)" "" "0000543004" "00010375" "30" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Cys)" "" "0000543005" "00010375" "30" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Cys)" "" "0000543006" "00010375" "30" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Glu45Lys)" "" "0000543007" "00010375" "10" "192" "0" "192" "0" "c.192C>T" "r.(?)" "p.(His64=)" "" "0000543008" "00010375" "50" "793" "0" "793" "0" "c.793G>A" "r.(?)" "p.(Asp265Asn)" "" "0000543009" "00010375" "10" "938" "-20" "938" "-20" "c.938-20T>C" "r.(=)" "p.(=)" "" "0000613164" "00010375" "30" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41His)" "" "0000613165" "00010375" "70" "235" "0" "235" "0" "c.235A>G" "r.(?)" "p.(Thr79Ala)" "" "0000613166" "00010375" "30" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Val137Met)" "" "0000613167" "00010375" "50" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Ala206Thr)" "" "0000613168" "00010375" "10" "810" "0" "810" "0" "c.810T>C" "r.(?)" "p.(Leu270=)" "" "0000613169" "00010375" "30" "844" "0" "844" "0" "c.844C>A" "r.(?)" "p.(Gln282Lys)" "" "0000613170" "00010375" "30" "855" "0" "855" "0" "c.855T>G" "r.(?)" "p.(Pro285=)" "" "0000613171" "00010375" "10" "938" "-11" "938" "-11" "c.938-11C>T" "r.(=)" "p.(=)" "" "0000648163" "00010375" "30" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Cys)" "" "0000648164" "00010375" "10" "937" "7" "937" "7" "c.937+7C>T" "r.(=)" "p.(=)" "" "0000667068" "00010375" "90" "503" "0" "503" "0" "c.503T>G" "r.(?)" "p.(Leu168Arg)" "" "0000679107" "00010375" "50" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Asp)" "" "0000682853" "00010375" "70" "1159" "0" "1159" "0" "c.1159G>C" "r.(?)" "p.(Gly387Arg)" "" "0000690988" "00010375" "10" "957" "0" "957" "0" "c.957G>A" "r.(?)" "p.(Arg319=)" "" "0000723311" "00010375" "10" "1237" "0" "1237" "0" "c.1237A>C" "r.(?)" "p.(Arg413=)" "" "0000889697" "00010375" "10" "957" "0" "957" "0" "c.957G>A" "r.(?)" "p.(Arg319=)" "" "0000913529" "00010375" "10" "192" "0" "192" "0" "c.192C>T" "r.(?)" "p.(His64=)" "" "0000929822" "00010375" "30" "938" "-11" "938" "-11" "c.938-11C>T" "r.(=)" "p.(=)" "" "0000949611" "00010375" "50" "110" "0" "110" "0" "c.110C>T" "r.(?)" "p.(Thr37Ile)" "" "0000949612" "00010375" "50" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Asp)" "" "0000979445" "00010375" "50" "555" "0" "555" "0" "c.555C>A" "r.(?)" "p.(Cys185*)" "" "0001038324" "00010375" "30" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Gly58Ser)" "" "0001047985" "00010375" "50" "1074" "0" "1074" "0" "c.1074C>A" "r.(?)" "p.(Asn358Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000044021" "0000071825" "0000044028" "0000071834" "0000054729" "0000084718" "0000054730" "0000084719" "0000054734" "0000084723" "0000175314" "0000395191" "0000175315" "0000395190" "0000229352" "0000470556" "0000266535" "0000667068" "0000291474" "0000648163" "0000291475" "0000648164" "0000308446" "0000682853"