### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCNN1G) # 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}}" "SCNN1G" "sodium channel, non-voltage-gated 1, gamma subunit" "16" "p12" "unknown" "NG_011909.1" "UD_132118299848" "" "https://www.LOVD.nl/SCNN1G" "" "1" "10602" "6340" "600761" "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/SCNN1G_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-04-09 00:00:00" "00006" "2017-07-05 16:51:47" "00000" "2024-10-29 21:08:56" ## 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}}" "00018532" "SCNN1G" "sodium channel, nonvoltage-gated 1, gamma" "001" "NM_001039.3" "" "NP_001030.2" "" "" "" "-139" "3360" "1950" "23194040" "23228200" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "01529" "LIDLS" "Liddle syndrome (LIDLS)" "AD" "177200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02031" "PHA1B" "pseudohypoaldosteronism type 1 autosomal recessive (PHA-1B)" "AR" "264350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03240" "BESC3" "bronchiectasis, with/without elevated sweat chloride, type 3 (BESC-3)" "AD" "613071" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06309" "LIDLS2" "Liddle syndrome 2" "AD" "618114" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SCNN1G" "01529" "SCNN1G" "02031" "SCNN1G" "03240" "SCNN1G" "06309" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00050458" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00106717" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "African/white" "" "00106718" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00106719" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "African/white" "" "00106720" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00106721" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "African/white" "" "00106722" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "African/white" "" "00106723" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00106724" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "African/white" "" "00106725" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}" "" "" "" "" "" "0" "" "" "African" "" "00106726" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "African/white" "" "00106727" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "African/white" "" "00106728" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "African/white" "" "00226300" "" "" "" "1" "" "02547" "{PMID:Turan (2018):29582446}" "" "?" "yes" "Turkey" "" "0" "" "" "" "" "00226302" "" "" "" "1" "" "02547" "{PMID:Belot (2008):18424465}" "" "F" "yes" "" "" "0" "" "" "" "" "00226303" "" "" "" "1" "" "02547" "{PMID:Adachi (2001):11231969}" "" "M" "no" "Japan" "" "0" "" "" "" "" "00305949" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "0" "" "" "" "49" "00329151" "" "" "" "1" "" "02547" "{PMID:Yin, 2019:31522814}" "" "M" "" "China" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00050458" "00198" "00106717" "00000" "00106718" "00198" "00106719" "00000" "00106720" "00000" "00106721" "00198" "00106722" "00198" "00106723" "00198" "00106724" "00000" "00106725" "00198" "00106726" "00000" "00106727" "00000" "00106728" "00000" "00226300" "02031" "00226302" "02031" "00226303" "02031" "00305949" "02031" "00329151" "02031" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01529, 02031, 03240, 06309 ## Count = 18 "{{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}}" "0000037070" "00198" "00050458" "00006" "Isolated (sporadic)" "" "microcephaly, intrauterine growth retardation, global developmental delay, abnormal size of the palpebral fissures, prominent nose, short 4th metacarpal, clinodactyly of the 5th finger, cutaneous syndactyly of toes, aggressive behavior" "" "" "" "" "" "" "" "" "" "" "" "0000084514" "00000" "00106717" "02052" "Unknown" "" "Normal" "" "" "" "" "" "" "" "" "" "" "" "0000084515" "00198" "00106718" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084516" "00000" "00106719" "02052" "Unknown" "" "Normal" "" "" "" "" "" "" "" "" "" "" "" "0000084517" "00000" "00106720" "02052" "Unknown" "" "Normal" "" "" "" "" "" "" "" "" "" "" "" "0000084518" "00198" "00106721" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084519" "00198" "00106722" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084520" "00198" "00106723" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084521" "00000" "00106724" "02052" "Unknown" "" "Normal" "" "" "" "" "" "" "" "" "" "" "" "0000084522" "00198" "00106725" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084523" "00000" "00106726" "02052" "Unknown" "" "Normal" "" "" "" "" "" "" "" "" "" "" "" "0000084524" "00000" "00106727" "02052" "Unknown" "" "Normal" "" "" "" "" "" "" "" "" "" "" "" "0000084525" "00000" "00106728" "02052" "Unknown" "" "Normal" "" "" "" "" "" "" "" "" "" "" "" "0000171425" "02031" "00226300" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)" "00y01m" "" "Vomiting (HP:0002013)" "" "" "" "" "" "" "" "" "0000171427" "02031" "00226302" "02547" "Familial, autosomal recessive" "" "Hyperkalemia (HP:0002153), hyponatremia (HP:0002902), elevated sweat chloride (HP:0012236), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)" "<00y01m" "" "Severe weight loss (HP:0001824), hyperkalemia (HP:0002153)" "" "" "" "" "" "" "" "" "0000171429" "02031" "00226303" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), recurrent respiratory infections (HP:0002205)" "<00y01m" "" "Frequent vomiting (HP:0002013), severe dehydration (HP:0001944)" "" "" "" "" "" "" "" "" "0000231798" "02031" "00305949" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000247340" "02031" "00329151" "02547" "Familial, autosomal recessive" "" "Nephropathy, HP:0000112" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050403" "00050458" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000107188" "00106717" "1" "02052" "02052" "2009-04-17 11:44:07" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107189" "00106718" "1" "02052" "02052" "2009-04-17 11:44:07" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107190" "00106719" "1" "02052" "02052" "2009-04-17 11:44:07" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107191" "00106720" "1" "02052" "02052" "2009-04-17 11:44:07" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107192" "00106721" "1" "02052" "02052" "2009-04-17 11:44:07" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107193" "00106722" "1" "02052" "02052" "2009-04-17 11:44:07" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107194" "00106723" "1" "02052" "02052" "2009-04-17 11:44:07" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107195" "00106724" "1" "02052" "02052" "2009-04-17 11:44:07" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107196" "00106725" "1" "02052" "02052" "2009-04-17 11:44:07" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107197" "00106726" "1" "02052" "02052" "2009-04-17 11:44:07" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107198" "00106727" "1" "02052" "02052" "2009-04-17 11:44:07" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107199" "00106728" "1" "02052" "02052" "2009-04-17 11:44:07" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000227367" "00226300" "1" "02547" "02547" "2019-03-07 09:47:46" "" "" "PCR;SEQ" "DNA" "" "" "0000227369" "00226302" "1" "02547" "02547" "2019-03-07 10:15:16" "" "" "PCR;SEQ" "DNA" "" "" "0000227372" "00226303" "1" "02547" "02547" "2019-03-07 10:36:48" "" "" "PCR;RT-PCRq;SEQ" "RNA" "" "" "0000307080" "00305949" "1" "03695" "03695" "2020-07-06 01:33:47" "" "" "SEQ-NG" "DNA" "" "" "0000330364" "00329151" "1" "02547" "02547" "2021-02-06 12:09:47" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{geneid}}" "0000107188" "SCNN1G" "0000107189" "SCNN1G" "0000107190" "SCNN1G" "0000107191" "SCNN1G" "0000107192" "SCNN1G" "0000107193" "SCNN1G" "0000107194" "SCNN1G" "0000107195" "SCNN1G" "0000107196" "SCNN1G" "0000107197" "SCNN1G" "0000107198" "SCNN1G" "0000107199" "SCNN1G" "0000227367" "SCNN1A" "0000227367" "SCNN1B" "0000227367" "SCNN1G" "0000227369" "SCNN1A" "0000227369" "SCNN1B" "0000227369" "SCNN1G" "0000227372" "SCNN1A" "0000227372" "SCNN1B" "0000227372" "SCNN1G" "0000307080" "SCNN1G" "0000330364" "SCNN1A" "0000330364" "SCNN1B" "0000330364" "SCNN1G" ## 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 = 51 "{{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}}" "0000079383" "0" "90" "16" "21530207" "29332245" "del" "0" "00006" "CLN3_000009" "g.21530207_29332245del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.21518886_29320924del" "" "pathogenic" "" "0000172957" "0" "50" "16" "23200761" "23200761" "subst" "0.309511" "02052" "SCNN1G_000001" "g.23200761T>C" "0.309" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs5734" "0" "" "" "g.23189440T>C" "" "VUS" "" "0000172958" "0" "50" "16" "23200809" "23200809" "subst" "0.00652172" "02052" "SCNN1G_000002" "g.23200809C>T" "" "{PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs62639702" "0" "" "" "g.23189488C>T" "" "VUS" "" "0000172959" "0" "50" "16" "23200848" "23200848" "subst" "0.309544" "02052" "SCNN1G_000003" "g.23200848T>C" "0.317" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs5735" "0" "" "" "g.23189527T>C" "" "VUS" "" "0000172960" "0" "50" "16" "23200923" "23200923" "subst" "0.0613189" "02052" "SCNN1G_000004" "g.23200923C>T" "0.066" "{PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs5737" "0" "" "" "g.23189602C>T" "" "VUS" "" "0000172961" "0" "50" "16" "23200963" "23200963" "subst" "0.00497892" "02052" "SCNN1G_000005" "g.23200963G>A" "" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs5738" "0" "" "" "g.23189642G>A" "" "VUS" "" "0000172962" "0" "50" "16" "23203690" "23203690" "subst" "0.0193317" "02052" "SCNN1G_000006" "g.23203690C>T" "" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs5739" "0" "" "" "g.23192369C>T" "" "VUS" "" "0000172963" "0" "50" "16" "23221095" "23221095" "subst" "4.06395E-6" "02052" "SCNN1G_000007" "g.23221095C>G" "" "{PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs61759918" "0" "" "" "g.23209774C>G" "" "VUS" "" "0000172964" "0" "50" "16" "23221183" "23221183" "subst" "0.814323" "02052" "SCNN1G_000008" "g.23221183A>G" "0.801" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs5740" "0" "" "" "g.23209862A>G" "" "VUS" "" "0000172965" "0" "50" "16" "23221199" "23221199" "subst" "0" "02052" "SCNN1G_000009" "g.23221199G>C" "" "{PMID:Mutesa 2008:19017867}" "" "" "" "Germline" "" "rs61759924" "0" "" "" "g.23209878G>C" "" "VUS" "" "0000172966" "0" "50" "16" "23224106" "23224106" "subst" "0.17516" "02052" "SCNN1G_000010" "g.23224106T>C" "0.225" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs12708649" "0" "" "" "g.23212785T>C" "" "VUS" "" "0000172967" "0" "50" "16" "23224416" "23224416" "subst" "0.175166" "02052" "SCNN1G_000011" "g.23224416G>A" "0.211" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs13306653" "0" "" "" "g.23213095G>A" "" "VUS" "" "0000172968" "0" "50" "16" "23226787" "23226787" "subst" "0.174281" "02052" "SCNN1G_000012" "g.23226787C>G" "0.234" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs5723" "0" "" "" "g.23215466C>G" "" "VUS" "" "0000249205" "0" "10" "16" "23221183" "23221183" "subst" "0.814323" "02325" "SCNN1G_000008" "g.23221183A>G" "" "" "" "SCNN1G(NM_001039.4):c.1176+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23209862A>G" "" "benign" "" "0000298036" "0" "10" "16" "23224416" "23224416" "subst" "0.175166" "02325" "SCNN1G_000011" "g.23224416G>A" "" "" "" "SCNN1G(NM_001039.4):c.1432-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23213095G>A" "" "benign" "" "0000298037" "0" "10" "16" "23226787" "23226787" "subst" "0.174281" "02325" "SCNN1G_000012" "g.23226787C>G" "" "" "" "SCNN1G(NM_001039.4):c.1947C>G (p.L649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23215466C>G" "" "benign" "" "0000301990" "0" "10" "16" "23223986" "23223986" "subst" "1.21939E-5" "02326" "SCNN1G_000013" "g.23223986C>T" "" "" "" "SCNN1G(NM_001039.4):c.1295-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23212665C>T" "" "benign" "" "0000301991" "0" "10" "16" "23226248" "23226248" "subst" "0" "02326" "SCNN1G_000014" "g.23226248G>A" "" "" "" "SCNN1G(NM_001039.4):c.1569+140G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23214927G>A" "" "benign" "" "0000301992" "0" "10" "16" "23203690" "23203690" "subst" "0.0193317" "02326" "SCNN1G_000006" "g.23203690C>T" "" "" "" "SCNN1G(NM_001039.4):c.636C>T (p.S212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23192369C>T" "" "benign" "" "0000337555" "0" "10" "16" "23197545" "23197545" "subst" "0.242341" "02327" "SCNN1G_000015" "g.23197545C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23186224C>G" "" "benign" "" "0000337556" "0" "10" "16" "23197562" "23197562" "subst" "0.243173" "02327" "SCNN1G_000016" "g.23197562A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23186241A>G" "" "benign" "" "0000337557" "0" "10" "16" "23221183" "23221183" "subst" "0.814323" "02327" "SCNN1G_000008" "g.23221183A>G" "" "" "" "SCNN1G(NM_001039.4):c.1176+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23209862A>G" "" "benign" "" "0000337558" "0" "10" "16" "23224416" "23224416" "subst" "0.175166" "02327" "SCNN1G_000011" "g.23224416G>A" "" "" "" "SCNN1G(NM_001039.4):c.1432-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23213095G>A" "" "benign" "" "0000340778" "0" "10" "16" "23200923" "23200923" "subst" "0.0613189" "02327" "SCNN1G_000004" "g.23200923C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23189602C>T" "" "benign" "" "0000340817" "0" "10" "16" "23200848" "23200848" "subst" "0.309544" "02327" "SCNN1G_000003" "g.23200848T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23189527T>C" "" "benign" "" "0000340862" "0" "10" "16" "23226787" "23226787" "subst" "0.174281" "02327" "SCNN1G_000012" "g.23226787C>G" "" "" "" "SCNN1G(NM_001039.4):c.1947C>G (p.L649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23215466C>G" "" "benign" "" "0000340955" "0" "10" "16" "23203690" "23203690" "subst" "0.0193317" "02327" "SCNN1G_000006" "g.23203690C>T" "" "" "" "SCNN1G(NM_001039.4):c.636C>T (p.S212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23192369C>T" "" "benign" "" "0000341034" "0" "10" "16" "23200761" "23200761" "subst" "0.309511" "02327" "SCNN1G_000001" "g.23200761T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23189440T>C" "" "benign" "" "0000343195" "0" "30" "16" "23226732" "23226732" "subst" "0.000109881" "02327" "SCNN1G_000018" "g.23226732G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23215411G>A" "" "likely benign" "" "0000345216" "0" "10" "16" "23200963" "23200963" "subst" "0.00497892" "02327" "SCNN1G_000005" "g.23200963G>A" "" "" "" "SCNN1G(NM_001039.4):c.589G>A (p.E197K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23189642G>A" "" "benign" "" "0000351055" "0" "90" "16" "23200691" "23200691" "subst" "0" "02327" "SCNN1G_000017" "g.23200691G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23189370G>A" "" "pathogenic" "" "0000465577" "3" "90" "16" "23197779" "23197779" "subst" "0" "02547" "SCNN1G_000019" "g.23197779G>C" "" "{PMID:Turan (2018):29582446}" "" "" "" "Germline" "yes" "" "0" "" "" "g.23186458G>C" "" "pathogenic (recessive)" "" "0000465578" "3" "90" "16" "23224022" "23224022" "subst" "0" "02547" "SCNN1G_000020" "g.23224022C>T" "" "{PMID:Belot (2008):18424465}" "" "" "" "Germline" "yes" "" "0" "" "" "g.23212701C>T" "" "pathogenic (recessive)" "" "0000465582" "11" "90" "16" "23226409" "23226409" "subst" "0" "02547" "SCNN1G_000021" "g.23226409G>A" "" "{PMID:Adachi (2001):11231969}" "" "" "" "Germline" "yes" "rs1596779402" "0" "" "" "g.23215088G>A" "{CV-RCV:000009373.3}, {CV:8825}" "pathogenic (recessive)" "" "0000465584" "21" "90" "16" "23226466" "23226466" "del" "0" "02547" "SCNN1G_000022" "g.23226466del" "" "{PMID:Adachi (2001):11231969}" "" "c.1627delG" "" "Germline" "yes" "rs1596779433" "0" "" "" "g.23215145del" "{CV-RCV:000009375.4}, {CV:8827}" "pathogenic (recessive)" "" "0000557519" "0" "10" "16" "23200921" "23200921" "subst" "0.00398356" "02326" "SCNN1G_000023" "g.23200921G>A" "" "" "" "SCNN1G(NM_001039.4):c.547G>A (p.G183S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23189600G>A" "" "benign" "" "0000557520" "0" "10" "16" "23205645" "23205645" "subst" "0.0231561" "02326" "SCNN1G_000024" "g.23205645T>C" "" "" "" "SCNN1G(NM_001039.4):c.913+50T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23194324T>C" "" "benign" "" "0000557521" "0" "30" "16" "23226581" "23226581" "subst" "6.09459E-5" "02327" "SCNN1G_000025" "g.23226581T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23215260T>C" "" "likely benign" "" "0000673631" "11" "70" "16" "23197708" "23197708" "subst" "0" "03695" "SCNN1G_000027" "g.23197708A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23186387A>G" "" "likely pathogenic (recessive)" "" "0000673632" "0" "70" "16" "23224199" "23224199" "subst" "0" "03695" "SCNN1G_000028" "g.23224199C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.23212878C>T" "" "likely pathogenic (recessive)" "" "0000714954" "3" "90" "16" "23197701" "23197706" "del" "0" "02547" "SCNN1G_000029" "g.23197701_23197706del" "" "{PMID:Yin,2019:31522814}" "" "" "" "Germline" "yes" "" "" "" "" "g.23186380_23186385del" "" "pathogenic" "" "0000725655" "0" "50" "16" "23226701" "23226701" "subst" "6.09548E-5" "02329" "SCNN1G_000026" "g.23226701G>A" "" "" "" "SCNN1G(NM_001039.3):c.1861G>A (p.G621S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864671" "0" "30" "16" "23197927" "23197927" "subst" "0.00045072" "02326" "SCNN1G_000030" "g.23197927G>C" "" "" "" "SCNN1G(NM_001039.4):c.317+18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864672" "0" "50" "16" "23226429" "23226429" "subst" "0.000629836" "02327" "SCNN1G_000031" "g.23226429A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892806" "0" "30" "16" "23200963" "23200963" "subst" "0.00497892" "02326" "SCNN1G_000005" "g.23200963G>A" "" "" "" "SCNN1G(NM_001039.4):c.589G>A (p.E197K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892807" "0" "30" "16" "23226415" "23226415" "subst" "0.000597926" "02326" "SCNN1G_000032" "g.23226415G>A" "" "" "" "SCNN1G(NM_001039.4):c.1575G>A (p.E525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926210" "0" "30" "16" "23200923" "23200923" "subst" "0" "02326" "SCNN1G_000033" "g.23200923C>A" "" "" "" "SCNN1G(NM_001039.4):c.549C>A (p.G183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926211" "0" "50" "16" "23221111" "23221111" "subst" "2.84481E-5" "02329" "SCNN1G_000034" "g.23221111C>T" "" "" "" "SCNN1G(NM_001039.4):c.1118C>T (p.T373M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930572" "0" "50" "16" "23226531" "23226531" "subst" "2.84458E-5" "02327" "SCNN1G_000035" "g.23226531G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981778" "0" "50" "16" "23226768" "23226768" "subst" "0" "01804" "SCNN1G_000036" "g.23226768C>A" "" "" "" "SCNN1G(NM_001039.4):c.1928C>A (p.(Thr643Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015360" "0" "50" "16" "23226064" "23226064" "subst" "0" "02325" "SCNN1G_000037" "g.23226064A>G" "" "" "" "SCNN1G(NM_001039.4):c.1525A>G (p.K509E)" "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 SCNN1G ## Count = 51 "{{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}}" "0000079383" "00018532" "00" "-1663972" "0" "6107405" "0" "c.-1663972_*6105455del" "r.0?" "p.0?" "" "0000172957" "00018532" "50" "387" "0" "387" "0" "c.387T>C" "r.(?)" "p.(=)" "3" "0000172958" "00018532" "50" "435" "0" "435" "0" "c.435C>T" "r.(?)" "p.(=)" "3" "0000172959" "00018532" "50" "474" "0" "474" "0" "c.474T>C" "r.(?)" "p.(=)" "3" "0000172960" "00018532" "50" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(=)" "3" "0000172961" "00018532" "50" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Glu197Lys)" "3" "0000172962" "00018532" "50" "636" "0" "636" "0" "c.636C>T" "r.(?)" "p.(=)" "4" "0000172963" "00018532" "50" "1102" "0" "1102" "0" "c.1102C>G" "r.(?)" "p.(Pro368Ala)" "7" "0000172964" "00018532" "50" "1176" "14" "1176" "14" "c.1176+14A>G" "r.(?)" "p.(?)" "7i" "0000172965" "00018532" "50" "1176" "30" "1176" "30" "c.1176+30G>C" "r.(?)" "p.(?)" "7i" "0000172966" "00018532" "50" "1373" "29" "1373" "29" "c.1373+29T>C" "r.(?)" "p.(?)" "9i" "0000172967" "00018532" "50" "1432" "-7" "1432" "-7" "c.1432-7G>A" "r.(?)" "p.(?)" "10i" "0000172968" "00018532" "50" "1947" "0" "1947" "0" "c.1947C>G" "r.(?)" "p.(=)" "13" "0000249205" "00018532" "10" "1176" "14" "1176" "14" "c.1176+14A>G" "r.(=)" "p.(=)" "" "0000298036" "00018532" "10" "1432" "-7" "1432" "-7" "c.1432-7G>A" "r.(=)" "p.(=)" "" "0000298037" "00018532" "10" "1947" "0" "1947" "0" "c.1947C>G" "r.(?)" "p.(Leu649=)" "" "0000301990" "00018532" "10" "1295" "-13" "1295" "-13" "c.1295-13C>T" "r.(=)" "p.(=)" "" "0000301991" "00018532" "10" "1569" "140" "1569" "140" "c.1569+140G>A" "r.(=)" "p.(=)" "" "0000301992" "00018532" "10" "636" "0" "636" "0" "c.636C>T" "r.(?)" "p.(Ser212=)" "" "0000337555" "00018532" "10" "-44" "-4" "-44" "-4" "c.-44-4C>G" "r.spl?" "p.?" "" "0000337556" "00018532" "10" "-31" "0" "-31" "0" "c.-31A>G" "r.(?)" "p.(=)" "" "0000337557" "00018532" "10" "1176" "14" "1176" "14" "c.1176+14A>G" "r.(=)" "p.(=)" "" "0000337558" "00018532" "10" "1432" "-7" "1432" "-7" "c.1432-7G>A" "r.(=)" "p.(=)" "" "0000340778" "00018532" "10" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(Gly183=)" "" "0000340817" "00018532" "10" "474" "0" "474" "0" "c.474T>C" "r.(?)" "p.(Ile158=)" "" "0000340862" "00018532" "10" "1947" "0" "1947" "0" "c.1947C>G" "r.(?)" "p.(Leu649=)" "" "0000340955" "00018532" "10" "636" "0" "636" "0" "c.636C>T" "r.(?)" "p.(Ser212=)" "" "0000341034" "00018532" "10" "387" "0" "387" "0" "c.387T>C" "r.(?)" "p.(Tyr129=)" "" "0000343195" "00018532" "30" "1892" "0" "1892" "0" "c.1892G>A" "r.(?)" "p.(Arg631His)" "" "0000345216" "00018532" "10" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Glu197Lys)" "" "0000351055" "00018532" "90" "318" "-1" "318" "-1" "c.318-1G>A" "r.spl?" "p.?" "" "0000465577" "00018532" "90" "187" "0" "187" "0" "c.187G>C" "r.(?)" "p.(Ala63Pro)" "2" "0000465578" "00018532" "90" "1318" "0" "1318" "0" "c.1318C>T" "r.(?)" "p.(Arg440*)" "9" "0000465582" "00018532" "90" "1570" "-1" "1570" "-1" "c.1570-1G>A" "r.spl" "p.?" "" "0000465584" "00018532" "90" "1626" "0" "1626" "0" "c.1626del" "r.(?)" "p.(Val543Leufs*56)" "" "0000557519" "00018532" "10" "547" "0" "547" "0" "c.547G>A" "r.(?)" "p.(Gly183Ser)" "" "0000557520" "00018532" "10" "913" "50" "913" "50" "c.913+50T>C" "r.(=)" "p.(=)" "" "0000557521" "00018532" "30" "1741" "0" "1741" "0" "c.1741T>C" "r.(?)" "p.(Cys581Arg)" "" "0000673631" "00018532" "70" "116" "0" "116" "0" "c.116A>G" "r.(?)" "p.(His39Arg)" "" "0000673632" "00018532" "70" "1415" "0" "1415" "0" "c.1415C>T" "r.(?)" "p.(Pro472Leu)" "" "0000714954" "00018532" "90" "109" "0" "114" "0" "c.109_114del" "r.(?)" "p.(Asn37_Thr38del)" "2" "0000725655" "00018532" "50" "1861" "0" "1861" "0" "c.1861G>A" "r.(?)" "p.(Gly621Ser)" "" "0000864671" "00018532" "30" "317" "18" "317" "18" "c.317+18G>C" "r.(=)" "p.(=)" "" "0000864672" "00018532" "50" "1589" "0" "1589" "0" "c.1589A>G" "r.(?)" "p.(Asn530Ser)" "" "0000892806" "00018532" "30" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Glu197Lys)" "" "0000892807" "00018532" "30" "1575" "0" "1575" "0" "c.1575G>A" "r.(?)" "p.(Glu525=)" "" "0000926210" "00018532" "30" "549" "0" "549" "0" "c.549C>A" "r.(?)" "p.(Gly183=)" "" "0000926211" "00018532" "50" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Met)" "" "0000930572" "00018532" "50" "1691" "0" "1691" "0" "c.1691G>A" "r.(?)" "p.(Arg564His)" "" "0000981778" "00018532" "50" "1928" "0" "1928" "0" "c.1928C>A" "r.(?)" "p.(Thr643Asn)" "" "0001015360" "00018532" "50" "1525" "0" "1525" "0" "c.1525A>G" "r.(?)" "p.(Lys509Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000050403" "0000079383" "0000107188" "0000172957" "0000107189" "0000172958" "0000107190" "0000172959" "0000107191" "0000172960" "0000107192" "0000172961" "0000107193" "0000172962" "0000107194" "0000172963" "0000107195" "0000172964" "0000107196" "0000172965" "0000107197" "0000172966" "0000107198" "0000172967" "0000107199" "0000172968" "0000227367" "0000465577" "0000227369" "0000465578" "0000227372" "0000465582" "0000227372" "0000465584" "0000307080" "0000673631" "0000307080" "0000673632" "0000330364" "0000714954"