### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCNN1A) # 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}}" "SCNN1A" "sodium channel, non-voltage-gated 1 alpha subunit" "12" "p13" "unknown" "NG_011945.1" "UD_132118332817" "" "https://www.LOVD.nl/SCNN1A" "" "1" "10599" "6337" "600228" "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/SCNN1A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-04-09 00:00:00" "00006" "2017-07-05 16:47:45" "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}}" "00018529" "SCNN1A" "sodium channel, nonvoltage-gated 1 alpha, transcript variant 1" "002" "NM_001038.5" "" "NP_001029.1" "" "" "" "-289" "3040" "2010" "6484905" "6456009" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "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" "03230" "BESC2" "bronchiectasis, with/without elevated sweat chloride, type 2 (BESC-2)" "AD" "613021" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06186" "LIDLS3" "?Liddle syndrome 3" "AD" "618126" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SCNN1A" "02031" "SCNN1A" "03230" "SCNN1A" "06186" ## Individuals ## Do not remove or alter this header ## ## Count = 75 "{{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}}" "00106688" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "African;white" "" "00106689" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "African;white" "" "00106690" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00106691" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}" "" "" "" "" "" "0" "" "" "African" "" "00106692" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "African;white" "" "00106693" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00106694" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00106695" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00106696" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00106697" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00106698" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "African;white" "" "00106699" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00106700" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00106701" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00106702" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}" "" "" "" "" "" "0" "" "" "African" "" "00106703" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "African;white" "" "00106704" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00225643" "" "" "" "1" "" "02547" "{PMID:Kerem 1999:10403853}" "" "M" "?" "" "" "0" "" "" "Northern European" "" "00226102" "" "" "" "1" "" "02547" "{PMID:Welzel 2013:23416952}" "" "M" "yes" "Turkey" "00y11m" "0" "" "" "" "" "00226103" "" "" "" "1" "" "02547" "{PMID:Chang 1996:8589714}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00226104" "" "" "" "1" "" "02547" "{PMID:Chang 1996:8589714}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00226105" "" "" "" "1" "" "02547" "{PMID:Chang 1996:8589714}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00226106" "" "" "" "1" "" "02547" "{PMID:Mora-Lopez 2012:22371258}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00226108" "" "" "" "1" "" "02547" "{PMID:Kala Ahluwalia 2014:25548639}" "" "M" "no" "United States" "" "0" "" "" "" "" "00226109" "" "" "" "1" "" "02547" "{PMID:Kerem 1999:10403853}" "" "M" "no" "" "" "0" "" "" "Hispanic" "" "00226122" "" "" "" "1" "" "02547" "{PMID:Welzel 2013:23416952}" "" "M" "yes" "Turkey" "" "0" "" "" "" "" "00226123" "" "" "" "1" "" "02547" "{PMID:Welzel 2013:23416952}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00226124" "" "" "" "1" "" "02547" "{PMID:Ekinci 2013:23813355}" "" "F" "yes" "Korea, South (Republic)" "" "0" "" "" "Turkish" "" "00226125" "" "" "" "1" "" "02547" "{PMID:Dirlewanger 2011:21653223}" "" "M" "yes" "Sri Lanka" "" "0" "" "" "" "" "00226137" "" "" "" "2" "" "02547" "{PMID:Schaedel 1999:10586178}" "" "M" "no" "Sweden" "<00y02m" "0" "" "" "" "" "00226138" "" "" "" "2" "" "02547" "{PMID:Schaedel 1999:10586178}" "" "M" "no" "Sweden" "" "0" "" "" "" "" "00226139" "" "" "" "1" "" "02547" "{PMID:Welzel 2013:23416952}" "" "M" "yes" "Sudan" "" "0" "" "" "" "" "00226143" "" "" "" "1" "" "02547" "{PMID:Wang (2013):23762408}" "" "F" "?" "China" "" "0" "" "" "" "" "00226145" "" "" "" "1" "" "02547" "{PMID:Silva (2013):23031435}" "" "M" "no" "Portugal" "" "0" "" "" "" "" "00226146" "" "" "" "1" "" "02547" "{PMID:Edelheit (2005):15853823}" "" "M" "" "Poland" "" "0" "" "" "" "" "00226147" "" "" "" "1" "" "02547" "{PMID:Wang (2013):23762408}" "" "F" "?" "China" "" "0" "" "" "" "" "00226148" "" "" "" "1" "" "02547" "{PMID:Saxena (2002):12107247}" "" "M" "" "Pakistan" "" "0" "" "" "" "" "00226149" "" "" "" "1" "" "02547" "{PMID:Welzel (2013):23416952}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00226150" "" "" "" "1" "" "02547" "{PMID:Edelheit (2005):15853823}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00226151" "" "" "" "1" "" "02547" "{PMID:Welzel (2013):23416952}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00226152" "" "" "" "1" "" "02547" "{PMID:Schaedel (1999):10586178}" "" "F" "no" "Sweden" "" "0" "" "" "" "" "00226153" "" "" "" "1" "" "02547" "{PMID:Schaedel (1999):10586178}" "" "M" "no" "Sweden" "" "0" "" "" "" "" "00226164" "" "" "" "2" "" "02547" "{PMID:Bonny (2002):12376807}" "" "F" "yes" "" "" "0" "" "" "" "" "00226165" "" "" "" "2" "" "02547" "{PMID:Bonny (2002):12376807}" "" "M" "yes" "" "" "0" "" "" "" "" "00226166" "" "" "" "1" "" "02547" "{PMID:Welzel (2013):23416952}" "" "M" "yes" "Turkey" "" "0" "" "" "" "" "00226168" "" "" "" "1" "" "02547" "{PMID:Chang (1996):8589714}" "" "F" "yes" "Iran" "" "0" "" "" "Iran;Jewish" "" "00226169" "" "" "" "2" "" "02547" "{PMID:Kerem (1999):10403853}" "" "M" "yes" "Iran" "" "0" "" "" "Iran;Jewish" "" "00226170" "" "" "" "2" "" "02547" "{PMID:Kerem (1999):10403853}" "" "M" "yes" "Iran" "" "0" "" "" "Iran;Jewish" "" "00226171" "" "" "" "1" "" "02547" "{PMID:Saxena (2002):12107247}" "" "M" "yes" "India" "" "0" "" "" "Indian Muslim" "" "00226172" "" "" "" "1" "" "02547" "{PMID:Belot (2008):18424465}" "" "F" "yes" "" "" "0" "" "" "" "" "00226173" "" "" "" "2" "" "02547" "{PMID:Turan (2018):29582446}" "" "M" "yes" "Turkey" "" "0" "" "" "" "" "00226174" "" "" "" "2" "" "02547" "{PMID:Turan (2018):29582446}" "" "?" "yes" "Turkey" "" "0" "" "" "" "" "00226175" "" "" "" "1" "" "02547" "{PMID:Huppmann (2011):29582446}" "" "M" "yes" "Tunisia" "" "0" "" "" "" "" "00226176" "" "" "" "1" "" "02547" "{PMID:Turan (2018):29582446}" "" "?" "yes" "Turkey" "" "0" "" "" "" "" "00226180" "" "" "" "1" "" "02547" "{PMID:Riepe (2009):18547339}" "" "F" "yes" "Somalia" "" "0" "" "" "" "" "00226183" "" "" "" "2" "" "02547" "{PMID:Nur (2017):28484659}" "" "F" "" "Pakistan" "" "0" "" "" "" "" "00226184" "" "" "" "2" "" "02547" "{PMID:Nur (2017):28484659}" "" "F" "" "Pakistan" "" "0" "" "" "" "" "00235346" "" "" "" "1" "" "02547" "{PMID:Cayir (2019):31018202}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00235347" "" "" "" "1" "" "02547" "{PMID:Cayir (2019):31018202}" "" "F" "yes" "Turkey" "00y02m" "0" "" "" "" "" "00263408" "" "" "" "1" "" "02547" "{PMID:Gopal-Kothandapani (2019):31301676}" "" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Asian Pakistani" "" "00290783" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290784" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290786" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304375" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304376" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306136" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "71" "00306137" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "72" "00329118" "" "" "" "1" "" "02547" "{PMID:Gopal-Kothandapani 2019:31301676}" "" "M" "yes" "United Kingdom (Great Britain)" "00y01m" "" "" "" "Asian Pakistani" "" "00329119" "" "" "" "1" "" "02547" "{PMID:Gopal-Kothandapani 2019:31301676}" "" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Asian Pakistani" "" "00333450" "" "" "" "1" "" "02547" "{PMID:Gopal-Kothandapani, 2019:31301676}" "" "M" "yes" "United Kingdom (Great Britain)" "02y03m" "" "" "" "White white" "" "00333487" "" "" "" "1" "" "02547" "{PMID:Gopal-Kothandapani, 2019:31301676}" "" "M" "yes" "United Kingdom (Great Britain)" "" "" "" "" "Asian Pakistani" "" "00333488" "" "" "" "1" "" "02547" "{PMID:Gopal-Kothandapani, 2019:31301676}" "" "M" "yes" "United Kingdom (Great Britain)" "" "" "" "" "Asian Pakistani" "" "00371680" "" "" "" "1" "" "02547" "{PMID:Huneif, 2021:33829730}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00377140" "" "" "" "1" "" "02547" "{PMID:Serra G, 2021:34134742}" "" "M" "yes" "Italy" "" "0" "" "" "" "" "00445371" "" "" "" "2" "" "00006" "{PMID:Rinne 2020:32535041}" "2-generation family, affected twin brothers, unaffected carrier mother" "M" "" "Albania" "" "0" "" "" "" "Fam10031Pat1/4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 75 "{{individualid}}" "{{diseaseid}}" "00106688" "00000" "00106689" "00000" "00106690" "00198" "00106691" "00198" "00106692" "00198" "00106693" "00198" "00106694" "00198" "00106695" "00198" "00106696" "00000" "00106697" "00000" "00106698" "00000" "00106699" "00198" "00106700" "00000" "00106701" "00198" "00106702" "00198" "00106703" "00000" "00106704" "00198" "00225643" "02031" "00226102" "02031" "00226103" "02031" "00226104" "02031" "00226105" "02031" "00226106" "02031" "00226108" "02031" "00226109" "02031" "00226122" "02031" "00226123" "02031" "00226124" "02031" "00226125" "02031" "00226137" "02031" "00226138" "02031" "00226139" "02031" "00226143" "02031" "00226145" "02031" "00226146" "02031" "00226147" "02031" "00226148" "02031" "00226149" "02031" "00226150" "02031" "00226151" "02031" "00226152" "02031" "00226153" "02031" "00226164" "02031" "00226165" "02031" "00226166" "02031" "00226168" "02031" "00226169" "02031" "00226170" "02031" "00226171" "02031" "00226172" "02031" "00226173" "02031" "00226174" "02031" "00226175" "02031" "00226176" "02031" "00226180" "02031" "00226183" "02031" "00226184" "02031" "00235346" "02031" "00235347" "02031" "00263408" "02031" "00290783" "00198" "00290784" "00198" "00290786" "00198" "00304375" "00198" "00304376" "00198" "00306136" "02031" "00306137" "02031" "00329118" "02031" "00329119" "02031" "00333450" "02031" "00333487" "02031" "00333488" "02031" "00371680" "02031" "00377140" "02031" "00445371" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 02031, 03230, 06186 ## Count = 67 "{{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}}" "0000084485" "00000" "00106688" "02052" "Unknown" "" "Normal" "" "" "" "" "" "" "" "" "" "" "" "0000084486" "00000" "00106689" "02052" "Unknown" "" "Normal" "" "" "" "" "" "" "" "" "" "" "" "0000084487" "00198" "00106690" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084488" "00198" "00106691" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084489" "00198" "00106692" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084490" "00198" "00106693" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084491" "00198" "00106694" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084492" "00198" "00106695" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084493" "00000" "00106696" "02052" "Unknown" "" "Normal" "" "" "" "" "" "" "" "" "" "" "" "0000084495" "00000" "00106698" "02052" "Unknown" "" "Normal" "" "" "" "" "" "" "" "" "" "" "" "0000084496" "00198" "00106699" "02052" "Unknown" "" "CF" "" "" "" "" "" "" "" "" "" "" "" "0000084497" "00000" "00106700" "02052" "Unknown" "" "Normal" "" "" "" "" "" "" "" "" "" "" "" "0000084498" "00198" "00106701" "02052" "Unknown" "" "CF" "" "" "" "" "" "" "" "" "" "" "" "0000084499" "00198" "00106702" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084500" "00000" "00106703" "02052" "Unknown" "" "Normal" "" "" "" "" "" "" "" "" "" "" "" "0000084501" "00198" "00106704" "02052" "Unknown" "" "CF" "" "" "" "" "" "" "" "" "" "" "" "0000171208" "02031" "00225643" "02547" "Familial, autosomal recessive" "01y06m" "Renal salt wasting (HP:0000127), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), high plasma renin activity (HP:0000841), hyperaldosteronism (HP:0000859), recurrent respiratory infections (HP:0002205)" "<00y01m" "" "Renal salt wasting (HP:0000127)" "" "" "" "" "" "" "" "" "0000171209" "02031" "00226102" "02547" "Familial, autosomal recessive" "" "Hyperbilirubinemia (HP:0002904), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), high plasma renin activity (HP:0000841), hyperaldosteronism (HP:0000859), recurrent respiratory infections (HP:0002205), atopic dermatitis-like rash (HP:0001047)" "<00y01m" "<00y01m" "Hyperbilirubinemia (HP:0002904)" "" "" "" "" "" "" "" "" "0000171210" "02031" "00226103" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:000859)" "<00y01m" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:000859)" "" "" "" "" "" "" "" "" "0000171211" "02031" "00226104" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859)" "<00y01m" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859)" "" "" "" "" "" "" "" "" "0000171212" "02031" "00226105" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859)" "<00y01m" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859)" "" "" "" "" "" "" "" "" "0000171213" "02031" "00226106" "02547" "Familial, autosomal recessive" "" "Elevated sweat choride (HP:0012236), dehydration (HP:0001944), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), high plasma renin activity (HP:0000841), hyperaldosteronism (HP:0000859)" "00y06m" "" "Elevated sweat choride (HP:0012236), dehydration (HP:0001944)" "" "" "" "" "" "PHA1B" "Cystic fibrosis" "" "0000171215" "02031" "00226108" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), dehydration (HP:0001944), metabolic acidosis (HP:0001942), increased plasma renin activity (HP:0000841), elevated plasma aldosterone (HP:0000859), elevated sweat chloride (HP:0012236)" "<00y01m" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), dehydration (HP:0001944)" "" "" "" "" "" "" "" "" "0000171216" "02031" "00226109" "02547" "Familial, autosomal recessive" "18y" "Elevated sweat chloride (HP:0012236), recurrent respiratory infections (HP:0002205)" "<00y01m" "" "Elevated sweat chloride (HP:0012236) salt wasting" "" "" "" "" "" "" "" "" "0000171235" "02031" "00226122" "02547" "Familial, autosomal recessive" "" "Failure to thrive (HP:0001508), dehydration (HP:0001944), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (0000841)" "<00y01m" "" "Failure to thrive (HP:0001508), dehydration (HP:0001944), hyponatremia (HP:0002902), hyperkalemia (HP:0002153)" "" "" "" "" "" "" "" "" "0000171237" "02031" "00226123" "02547" "Familial, autosomal recessive" "" "Failure thrive (HP:0001508), dehydration (HP:0001944), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:000841)" "" "" "Dehydratrion (HP:0001944), failure to thrive (HP:0001508)" "" "" "" "" "" "" "" "" "0000171238" "02031" "00226124" "02547" "Familial, autosomal recessive" "" "Failure to thrive (HP:0001508), dehydration (HP:0001944), hyponatremia (HP:0002902); hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), elevated sweat choride (HP:0012236)" "<00y01m" "" "Failure to thrive (HP:0001508), dehydration (HP:0001944), cyanosis (HP:0000961), bradycardia (HP:0001662), hypothermia (HP:0002045)" "" "" "" "" "" "" "" "" "0000171239" "02031" "00226125" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), renal salt wasting (HP:0000127)" "<00y01m" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942)" "" "" "" "" "" "" "" "" "0000171251" "02031" "00226137" "02547" "Familial, autosomal recessive" "" "Dehydration (HP:0001944), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)" "<00y01m" "" "Dehydration (HP:0001944), hyponatremia (HP:0002902), hyperkalemia (HP:0002153)" "" "" "" "" "" "" "" "" "0000171252" "02031" "00226138" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hypokalemia (HP:0002153), renal salt wasting (HP:0000127), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), elevated sweat chloride (HP:0012236), recurrent respiratory infections (HP0002205)" "<00y01m" "" "Hyponatremia (HP:0002902), hypokalemia (HP:0002153), renal salt wasting (HP:0000127)" "" "" "" "" "" "" "" "" "0000171253" "02031" "00226139" "02547" "Familial, autosomal recessive" "" "Dehydration (HP:0001944), metabolic acidosis (HP:0001942), tachycardia (HP:0001649), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)" "<00y01m" "" "Dehydration (HP:0001944), metabolic acidosis (HP:0001942), tachycardia (HP:0001649)" "" "" "" "" "" "" "" "" "0000171255" "02031" "00226143" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942)" "<00y01m" "<00y01m" "" "" "" "" "" "" "PHA1B" "Congenital adrenal hyperplasia (CAH)" "" "0000171258" "02031" "00226145" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942)" "<00y01m" "" "Dehydration (HP:0001944), vomiting (HP:0002013), failure to thrive (HP:0001508)" "" "" "" "" "" "PHA1B" "Congenital adrenal hyperplasia (CAH)" "" "0000171259" "02031" "00226146" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), renal salt wasting (HP:0000127), metabolic acidosis (HP0001942)" "<00y01m" "" "Vomiting (HP:0002013), failure to thrive (HP:0001508), dehydration (HP:0001944)" "" "" "" "" "" "" "" "" "0000171260" "02031" "00226147" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)" "<00y01m" "" "Failure to thrive (HP:0001508), vomiting (HP:0002013), dehydration (HP:0001944), feeding difficulties (HP:0008872)" "" "" "" "" "" "" "" "" "0000171261" "02031" "00226148" "02547" "Familial, autosomal recessive" "" "Dehydration (HP:0001944), hyponatremia (HP:0002902), renal salt wasting (HP:0000127), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)" "<00y01m" "" "Dehydration (HP:0001944), hyponatremia (HP:0002902), renal salt wasting (HP:0000127)" "" "" "" "" "" "" "" "" "0000171262" "02031" "00226149" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), renal salt wasting (HP:0000127)" "<00y01m" "" "Vomiting (HP:0002013), dehydration (HP:0001944), somnolence (HP:0001262)" "" "" "" "" "" "" "" "" "0000171265" "02031" "00226152" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)" "<00y01m" "" "Elevated sweat chloride (HP:0012236), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)" "" "" "" "" "" "" "" "" "0000171266" "02031" "00226153" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)" "<00y01m" "" "Elevated sweat chloride (HP:0012236), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)" "" "" "" "" "" "" "" "" "0000171279" "02031" "00226165" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), renal salt wasting (HP:0000127), recurrent respiratory infections (HP:0002205) with asthma-like symptoms" "<00y01m" "" "Feeding difficulties (HP:0008872), vomiting (HP:0002013)" "" "" "" "" "" "" "" "" "0000171280" "02031" "00226166" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), renal salt wasting (HP:0000127), elevated sweat chloride (HP:0012236), recurrent pulmonary infections (HP0002205), skin rashes (HP:0001047)" "<00y01m" "" "Hyperbilirubinemia (HP:0002904)" "" "" "" "" "" "" "" "" "0000171282" "02031" "00226168" "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" "" "Dehydration (HP:0001944), hypotension (HP:0002615), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942)" "" "" "" "" "" "" "" "" "0000171283" "02031" "00226169" "02547" "Familial, autosomal recessive" "" "Elevated sweat chloride (HP:0012236), recurrent respiratory infections (HP0002205), tachypnea (HP:0002789)" "<00y01m" "" "Salt wasting (HP:0000127), electrolyte imbalance" "" "" "" "" "" "" "" "" "0000171284" "02031" "00226170" "02547" "Familial, autosomal recessive" "" "Elevated sweat chloride (HP:0012236), high concentrations of Cl- and Na+ in saliva and sweat" "<00y01m" "" "Salt wasting (HP:0000127), electrolyte disturbances" "" "" "" "" "" "" "" "" "0000171285" "02031" "00226171" "02547" "Familial, autosomal recessive" "" "Dehydration (HP:0001944), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), renal salt wasting (HP:0000127)" "<00y01m" "" "Dehydration (HP:0001944), hyponatremia (HP:0002902), hyperkalemia (HP:0002153)" "" "" "" "" "" "" "" "" "0000171286" "02031" "00226172" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), dehydration (HP:0001944), recurrent respiratory symptoms (HP:0002205)" "<00y01m" "" "Faliure to thrive (HP:0001508), elevated sweat chloride (HP:0012236)" "" "" "" "" "" "" "" "" "0000171287" "02031" "00226173" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)" "<00y01m" "" "Dehydration (HP:0001944), jaundice (HP:0000952)" "" "" "" "" "" "" "" "" "0000171288" "02031" "00226174" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859)" "<00y01m" "" "Jaundice (HP:000952), feeding difficulties HP:0008872)" "" "" "" "" "" "" "" "" "0000171289" "02031" "00226175" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002513), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), diarrhea (HP:0002014), recurrent respiratory infections (HP:0002205)" "<00y01m" "" "Lethargy (HP:0001254), fever (HP:0001945), hyponatremia (HP:0002902), hyperkalemia (HP:0002513)" "" "" "" "" "" "" "" "" "0000171290" "02031" "00226176" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859)" "<00y01m" "" "Failure to thrive (HP:0001508), vomiting (HP:0002013), dehydration (HP:0001944), diarrhea (HP:0002014)" "" "" "" "" "" "" "" "" "0000171291" "02031" "00226180" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), renal salt wasting (HP:0000127)" "<00y01m" "" "Hypovolemic shock (HP:0031274), diarrhea (HP:0002014), vomiting (HP:0002013)" "" "" "" "" "" "" "" "" "0000171293" "02031" "00226183" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), elevated sweat chloride (HP:0012236), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), tachycardia (HP:0001649), recurrent respiratory infections (HP:0002205)" "<00y01m" "" "Vomiting (HP:0002013), dehydration (HP:0001944), lethargy (HP:0001254)" "" "" "" "" "" "" "" "" "0000171294" "02031" "00226184" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942)" "<00y01m" "" "Salt wasting (HP:0000127)" "" "" "" "" "" "" "" "" "0000175611" "02031" "00235346" "02547" "Familial, autosomal recessive" "" "Vomiting (HP:0002013), poor feeding (HP:0008872), weight loss (HP:0001824), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), elevated sweat chloride (HP:0012236), tachypnea (HP:0002789), hyperaldosteronism (HP:0000859)." "<00y01m" "" "Vomiting (HP:0002013), poor feeding (HP:0008872), weight loss (HP:0001824), hyponatremia (HP:0002902), hyperkalemia (HP:0002153)" "" "" "" "" "" "" "" "" "0000175612" "02031" "00235347" "02547" "Familial, autosomal recessive" "" "Vomiting (HP:0002013), poor feeding (HP:0008872), weight loss (HP:0001824), lethargy (HP:0001254), cardiac arrhythmia (HP:0011675), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperaldosteronism (HP:000859)." "<00y01m" "" "Vomiting (HP:0002013), poor feeding (HP:0008872), weight loss (HP:0001824), lethargy (HP:0001254), cardiac arrhythmia (HP:0011675)" "" "" "" "" "" "" "" "" "0000201770" "02031" "00263408" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), elevated sweat chloride (HP:0012236), skin rash (HP:0001047), hyperaldosteronism (HP:0000859), recurrent pharyngitis (HP:0100776)" "<00y01m" "" "Vomiting (HP:0002013), weight loss (HP:0001824), feeding difficulties (HP:0008872), dehydration (HP:0001944)" "" "" "" "" "" "" "" "" "0000231980" "02031" "00306136" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231981" "02031" "00306137" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000247316" "02031" "00329118" "02547" "Familial, autosomal recessive" "" "HP:0002013, HP:0001824, HP:0008872, HP:0001944, HP:0002902, HP:0002153, HP:0001942, HP:0002205, HP:0000859" "<00y01m" "" "HP:0001944, HP:0001824, HP:0002013, HP:0001262" "" "" "" "" "" "" "" "" "0000247317" "02031" "00329119" "02547" "Familial, autosomal recessive" "" "HP:0002013, HP:0001824, HP:0008872, HP:0001944, HP:0002902, HP:0002153, HP:0001942, HP:0002205, HP:0000859" "<00y01m" "" "HP:0001944, HP:0001824, HP:0002013, HP:0001262" "" "" "" "" "" "" "" "" "0000251635" "02031" "00333450" "02547" "Familial, autosomal recessive" "" "HP:0002902, HP:0002153, HP:0001942, HP:0002013, HP:0001824, HP:0008872, HP:0001944, HP:0031274, HP:0012236, HP:0000859, HP:0001695" "<00y01m" "" "" "" "" "" "" "" "" "" "" "0000251672" "02031" "00333487" "02547" "Familial, autosomal recessive" "" "HP:0002902, HP:0002153, HP:0001942, HP:0002013; HP:0001824, HP:0008872, HP:0001944, HP:0001695, HP:0000859, HP:0000841" "<00y01m" "" "" "" "" "" "" "" "" "" "" "0000251673" "02031" "00333488" "02547" "Familial, autosomal recessive" "" "HP:0002902, HP0002153, HP:0001942, HP:0002205, HP:0002013, HP:0001824, HP:0008872, HP:0001944, HP:0000859" "<00y01m" "" "" "" "" "" "" "" "" "" "" "0000267020" "02031" "00371680" "02547" "Familial, autosomal recessive" "" "Dehydration, HP:0001944; elevated sweat chloride, HP:0012236; feeding difficulties, HP:0008872; raised plasma renin activity, HP:0000841; hyperaldosteronism, HP:0000859; hyperkalemia, HP:0002153; hyponatremia, HP:0002902; metabolic acidosis, HP:0001942; recurrent respiratory infections, HP:0002205; lethargy, HP:0001254; renal salt wasting, HP:0000127; vomiting, HP:0002013; skin rash, HP:0001047" "<00y01m" "00y02m" "Dehydration, HP:0001944; feeding difficulties, HP:0008872; hyperkalemia, HP:0002153; hyponatremia, HP:0002902; metabolic acidosis, HP:0001942; lethargy, HP:0001254; vomiting, HP:0001047" "" "" "" "" "" "Autosomal recessive pseudohypoaldosteronism PHA1B)" "Congenital adrenal hyperplasia (CAH)" "" "0000272303" "02031" "00377140" "02547" "Familial, autosomal recessive" "" "HP:0000952, HP:0008872, HP:0001254, HP:0001649, HP:0002902, HP:0003113, HP:0002153, HP:0001942, HP:0001944, HP:0000859, HP:0012605, HP:0001047" "" "<00y01m" "HP:0000952, HP:0008872, HP:0001254, HP:0001649" "" "" "" "" "" "" "" "" "0000334606" "00198" "00445371" "00006" "Unknown" "07y" "see paper; ..., severe atrioventricular block; fainting, dizziness, received pacemaker" "" "" "" "" "" "" "" "" "" "atrioventricular block" "" "0000334609" "00198" "00445371" "00006" "Unknown" "" "see paper; ..., ventricular premature beats in patients, brother (Pat5) and father (Pat3)" "" "" "" "" "" "" "" "" "" "ventricular premature beats" "" ## Screenings ## Do not remove or alter this header ## ## Count = 75 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000107159" "00106688" "1" "02052" "02052" "2009-04-17 14:05:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000107160" "00106689" "1" "02052" "02052" "2009-04-17 14:05:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000107161" "00106690" "1" "02052" "02052" "2009-04-17 14:05:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000107162" "00106691" "1" "02052" "02052" "2009-04-17 14:05:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000107163" "00106692" "1" "02052" "02052" "2009-04-17 14:05:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000107164" "00106693" "1" "02052" "02052" "2009-04-17 14:05:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000107165" "00106694" "1" "02052" "02052" "2009-04-17 14:05:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000107166" "00106695" "1" "02052" "02052" "2009-04-17 14:05:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000107167" "00106696" "1" "02052" "02052" "2009-04-17 14:05:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000107168" "00106697" "1" "02052" "02052" "2009-04-17 14:05:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000107169" "00106698" "1" "02052" "02052" "2009-04-17 14:05:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000107170" "00106699" "1" "02052" "02052" "2009-04-17 14:05:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000107171" "00106700" "1" "02052" "02052" "2009-04-17 14:05:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000107172" "00106701" "1" "02052" "02052" "2009-04-17 14:05:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000107173" "00106702" "1" "02052" "02052" "2009-04-17 14:05:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000107174" "00106703" "1" "02052" "02052" "2009-04-17 14:05:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000107175" "00106704" "1" "02052" "02052" "2009-04-17 14:05:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000227169" "00225643" "1" "02547" "02547" "2019-02-25 15:57:50" "" "" "SSCA" "DNA" "" "" "0000227172" "00226102" "1" "02547" "02547" "2019-02-26 10:08:12" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000227173" "00226103" "1" "02547" "02547" "2019-02-26 11:21:46" "" "" "PCR;SSCA" "DNA" "" "" "0000227174" "00226104" "1" "02547" "02547" "2019-02-26 11:35:36" "" "" "PCR;SSCA" "DNA" "" "" "0000227175" "00226105" "1" "02547" "02547" "2019-02-26 11:43:18" "" "" "PCR;SSCA" "DNA" "" "" "0000227178" "00226106" "1" "02547" "02547" "2019-02-26 14:04:13" "" "" "PCR;SEQ" "DNA" "" "" "0000227179" "00226108" "1" "02547" "02547" "2019-02-26 14:39:38" "" "" "SEQ" "DNA" "" "" "0000227180" "00226109" "1" "02547" "02547" "2019-02-26 16:24:11" "" "" "PCR;SSCA" "DNA" "" "" "0000227194" "00226122" "1" "02547" "02547" "2019-02-27 10:11:44" "" "" "PCR;SEQ" "DNA" "" "" "0000227195" "00226123" "1" "02547" "02547" "2019-02-27 10:25:36" "" "" "PCR;SEQ" "DNA" "" "" "0000227196" "00226124" "1" "02547" "02547" "2019-02-27 11:05:08" "" "" "?" "?" "" "" "0000227197" "00226125" "1" "02547" "02547" "2019-02-27 11:22:26" "" "" "SEQ" "DNA" "" "" "0000227209" "00226137" "1" "02547" "02547" "2019-02-27 14:43:07" "" "" "?" "?" "" "" "0000227210" "00226138" "1" "02547" "02547" "2019-02-27 15:35:31" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000227212" "00226139" "1" "02547" "02547" "2019-02-27 16:47:00" "" "" "PCR;SEQ" "DNA" "" "" "0000227219" "00226143" "1" "02547" "02547" "2019-02-28 11:25:04" "" "" "PCR;SEQ" "DNA" "" "" "0000227221" "00226145" "1" "02547" "02547" "2019-02-28 12:00:29" "" "" "PCR;SEQ" "DNA" "" "" "0000227222" "00226146" "1" "02547" "02547" "2019-02-28 12:52:11" "" "" "PCR;SEQ" "DNA" "" "" "0000227223" "00226147" "1" "02547" "02547" "2019-02-28 13:30:23" "" "" "PCR;SEQ" "DNA" "" "" "0000227224" "00226148" "1" "02547" "02547" "2019-02-28 13:57:26" "" "" "PCR;SEQ" "DNA" "" "" "0000227225" "00226149" "1" "02547" "02547" "2019-02-28 14:27:50" "" "" "PCR;SEQ" "DNA" "" "" "0000227226" "00226150" "1" "02547" "02547" "2019-02-28 14:50:11" "" "" "PCR;SEQ" "DNA" "" "" "0000227227" "00226151" "1" "02547" "02547" "2019-02-28 15:26:19" "" "" "PCR;SEQ" "DNA" "" "" "0000227228" "00226152" "1" "02547" "02547" "2019-02-28 15:45:24" "" "" "SSCA" "DNA" "" "" "0000227229" "00226153" "1" "02547" "02547" "2019-02-28 15:56:12" "" "" "SSCA" "DNA" "" "" "0000227240" "00226164" "1" "02547" "02547" "2019-03-01 10:16:40" "" "" "PCR;SEQ" "DNA" "" "" "0000227241" "00226165" "1" "02547" "02547" "2019-03-01 10:34:36" "" "" "PCR;SEQ" "DNA" "" "" "0000227242" "00226166" "1" "02547" "02547" "2019-03-01 10:53:30" "" "" "PCR;SEQ" "DNA" "" "" "0000227244" "00226168" "1" "02547" "02547" "2019-03-01 11:10:18" "" "" "PCR;SSCA" "DNA" "" "" "0000227245" "00226169" "1" "02547" "02547" "2019-03-01 11:39:21" "" "" "PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000227246" "00226170" "1" "02547" "02547" "2019-03-01 11:53:00" "" "" "PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000227247" "00226171" "1" "02547" "02547" "2019-03-01 12:27:27" "" "" "PCR;SEQ" "DNA" "" "" "0000227248" "00226172" "1" "02547" "02547" "2019-03-01 12:44:43" "" "" "PCR;SEQ" "DNA" "" "" "0000227249" "00226173" "1" "02547" "02547" "2019-03-01 13:13:35" "" "" "PCR;SEQ" "DNA" "" "" "0000227250" "00226174" "1" "02547" "02547" "2019-03-01 13:30:40" "" "" "PCR;SEQ" "DNA" "" "" "0000227251" "00226175" "1" "02547" "02547" "2019-03-01 13:49:15" "" "" "PCR;SEQ" "DNA" "" "" "0000227252" "00226176" "1" "02547" "02547" "2019-03-01 14:03:59" "" "" "PCR;SEQ" "DNA" "" "" "0000227256" "00226180" "1" "02547" "02547" "2019-03-01 15:25:37" "" "" "PCR;SEQ" "DNA" "" "" "0000227258" "00226183" "1" "02547" "02547" "2019-03-01 15:51:04" "" "" "SEQ" "DNA" "" "" "0000227259" "00226184" "1" "02547" "02547" "2019-03-01 16:01:09" "" "" "PCR;SEQ" "DNA" "" "" "0000236451" "00235346" "1" "02547" "02547" "2019-05-23 15:32:36" "" "" "PCR;SEQ-NG-I" "DNA" "" "" "0000236452" "00235347" "1" "02547" "02547" "2019-05-23 15:50:49" "" "" "PCR;SEQ-NG-I" "DNA" "" "" "0000264518" "00263408" "1" "02547" "02547" "2019-08-27 15:04:26" "02547" "2021-02-25 18:37:42" "SEQ" "DNA" "" "" "0000291951" "00290783" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291952" "00290784" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291954" "00290786" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305504" "00304375" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305505" "00304376" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307267" "00306136" "1" "03695" "03695" "2020-07-08 21:29:40" "" "" "SEQ-NG" "DNA" "" "" "0000307268" "00306137" "1" "03695" "03695" "2020-07-08 21:34:53" "" "" "SEQ-NG" "DNA" "" "" "0000330338" "00329118" "1" "02547" "02547" "2021-02-04 14:14:16" "02547" "2021-02-25 18:40:13" "SEQ" "DNA" "" "" "0000330339" "00329119" "1" "02547" "02547" "2021-02-04 14:41:00" "02547" "2021-02-25 18:41:44" "SEQ" "DNA" "" "" "0000334675" "00333450" "1" "02547" "02547" "2021-02-25 15:47:02" "02547" "2021-02-25 18:49:12" "SEQ" "DNA" "" "" "0000334712" "00333487" "1" "02547" "02547" "2021-02-25 17:33:58" "02547" "2021-02-25 18:55:31" "SEQ" "DNA" "" "" "0000334713" "00333488" "1" "02547" "02547" "2021-02-25 17:55:58" "" "" "SEQ" "DNA" "" "" "0000372912" "00371680" "1" "02547" "02547" "2021-05-04 15:45:52" "" "" "SEQ" "DNA" "" "" "0000378345" "00377140" "1" "02547" "02547" "2021-07-08 12:35:08" "" "" "SEQ-NG" "DNA" "" "" "0000446942" "00445371" "1" "00006" "00006" "2024-01-10 16:53:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 150 "{{screeningid}}" "{{geneid}}" "0000107159" "SCNN1A" "0000107160" "SCNN1A" "0000107161" "SCNN1A" "0000107162" "SCNN1A" "0000107163" "SCNN1A" "0000107164" "SCNN1A" "0000107165" "SCNN1A" "0000107166" "SCNN1A" "0000107167" "SCNN1A" "0000107168" "SCNN1A" "0000107169" "SCNN1A" "0000107170" "SCNN1A" "0000107171" "SCNN1A" "0000107172" "SCNN1A" "0000107173" "SCNN1A" "0000107174" "SCNN1A" "0000107175" "SCNN1A" "0000227169" "SCNN1A" "0000227169" "SCNN1B" "0000227169" "SCNN1G" "0000227172" "SCNN1A" "0000227172" "SCNN1B" "0000227172" "SCNN1G" "0000227173" "SCNN1A" "0000227173" "SCNN1B" "0000227173" "SCNN1G" "0000227174" "SCNN1A" "0000227174" "SCNN1B" "0000227174" "SCNN1G" "0000227175" "SCNN1A" "0000227175" "SCNN1B" "0000227175" "SCNN1G" "0000227178" "SCNN1A" "0000227178" "SCNN1B" "0000227178" "SCNN1G" "0000227179" "SCNN1A" "0000227179" "SCNN1B" "0000227179" "SCNN1G" "0000227180" "SCNN1A" "0000227180" "SCNN1B" "0000227180" "SCNN1G" "0000227194" "SCNN1A" "0000227194" "SCNN1B" "0000227194" "SCNN1G" "0000227195" "SCNN1A" "0000227195" "SCNN1B" "0000227195" "SCNN1G" "0000227196" "SCNN1A" "0000227197" "SCNN1A" "0000227197" "SCNN1B" "0000227197" "SCNN1G" "0000227210" "SCNN1A" "0000227210" "SCNN1B" "0000227212" "SCNN1A" "0000227219" "NR3C2" "0000227219" "SCNN1A" "0000227219" "SCNN1B" "0000227219" "SCNN1G" "0000227221" "SCNN1A" "0000227221" "SCNN1B" "0000227221" "SCNN1G" "0000227222" "SCNN1A" "0000227222" "SCNN1B" "0000227222" "SCNN1G" "0000227223" "SCNN1A" "0000227223" "SCNN1B" "0000227223" "SCNN1G" "0000227224" "SCNN1A" "0000227224" "SCNN1B" "0000227224" "SCNN1G" "0000227225" "SCNN1A" "0000227226" "SCNN1A" "0000227226" "SCNN1B" "0000227226" "SCNN1G" "0000227227" "SCNN1A" "0000227228" "SCNN1A" "0000227228" "SCNN1B" "0000227229" "SCNN1A" "0000227229" "SCNN1B" "0000227240" "SCNN1A" "0000227240" "SCNN1B" "0000227240" "SCNN1G" "0000227241" "SCNN1A" "0000227241" "SCNN1B" "0000227241" "SCNN1G" "0000227242" "SCNN1A" "0000227244" "SCNN1A" "0000227244" "SCNN1B" "0000227244" "SCNN1G" "0000227245" "SCNN1A" "0000227245" "SCNN1B" "0000227245" "SCNN1G" "0000227246" "SCNN1A" "0000227246" "SCNN1B" "0000227246" "SCNN1G" "0000227247" "SCNN1A" "0000227247" "SCNN1B" "0000227247" "SCNN1G" "0000227248" "SCNN1A" "0000227248" "SCNN1B" "0000227248" "SCNN1G" "0000227249" "SCNN1A" "0000227249" "SCNN1B" "0000227249" "SCNN1G" "0000227250" "SCNN1A" "0000227250" "SCNN1B" "0000227250" "SCNN1G" "0000227251" "SCNN1A" "0000227252" "SCNN1A" "0000227252" "SCNN1B" "0000227252" "SCNN1G" "0000227256" "SCNN1A" "0000227256" "SCNN1B" "0000227256" "SCNN1G" "0000227258" "SCNN1A" "0000227259" "SCNN1A" "0000236451" "SCNN1A" "0000236451" "SCNN1B" "0000236452" "SCNN1A" "0000236452" "SCNN1B" "0000264518" "NR3C2" "0000264518" "SCNN1A" "0000264518" "SCNN1B" "0000264518" "SCNN1G" "0000307267" "SCNN1A" "0000307268" "SCNN1A" "0000330338" "NR3C2" "0000330338" "SCNN1A" "0000330338" "SCNN1B" "0000330338" "SCNN1G" "0000330339" "NR3C2" "0000330339" "SCNN1A" "0000330339" "SCNN1B" "0000330339" "SCNN1G" "0000334675" "NR3C2" "0000334675" "SCNN1A" "0000334675" "SCNN1B" "0000334675" "SCNN1G" "0000334712" "NR3C2" "0000334712" "SCNN1A" "0000334712" "SCNN1B" "0000334712" "SCNN1G" "0000334713" "NR3C2" "0000334713" "SCNN1A" "0000334713" "SCNN1B" "0000334713" "SCNN1G" "0000372912" "SCNN1A" "0000378345" "SCNN1A" "0000378345" "SCNN1B" "0000378345" "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 = 117 "{{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}}" "0000172928" "0" "55" "12" "6484709" "6484709" "subst" "0.616783" "02052" "SCNN1A_000001" "g.6484709T>C" "0.49" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs10849447" "0" "" "" "g.6375543T>C" "" "VUS" "" "0000172929" "0" "55" "12" "6484666" "6484666" "subst" "0" "02052" "SCNN1A_000002" "g.6484666C>G" "0.003" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs13306617" "0" "" "" "g.6375500C>G" "" "VUS" "" "0000172930" "0" "55" "12" "6484017" "6484017" "subst" "0.00104465" "02052" "SCNN1A_000003" "g.6484017G>A" "" "{PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs61758858" "0" "" "" "g.6374851G>A" "" "VUS" "" "0000172931" "0" "55" "12" "6483977" "6483977" "subst" "0.00159669" "02052" "SCNN1A_000004" "g.6483977A>G" "" "{PMID:Mutesa 2008:19017867}" "" "" "" "Germline" "" "rs61759919" "0" "" "" "g.6374811A>G" "" "VUS" "" "0000172932" "0" "55" "12" "6483851" "6483851" "subst" "0.0152593" "02052" "SCNN1A_000005" "g.6483851G>A" "" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs13306619" "0" "" "" "g.6374685G>A" "" "VUS" "" "0000172933" "0" "55" "12" "6483767" "6483767" "subst" "0" "02052" "SCNN1A_000006" "g.6483767G>T" "" "{PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs61758859" "0" "" "" "g.6374601G>T" "" "VUS" "" "0000172934" "0" "55" "12" "6483709" "6483709" "subst" "0" "02052" "SCNN1A_000007" "g.6483709G>A" "" "{PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs61759860" "0" "" "" "g.6374543G>A" "" "VUS" "" "0000172935" "0" "55" "12" "6483610" "6483610" "subst" "6.49757E-5" "02052" "SCNN1A_000008" "g.6483610C>T" "" "{PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs61759861" "0" "" "" "g.6374444C>T" "" "VUS" "" "0000172936" "0" "55" "12" "6472752" "6472752" "" "0" "02052" "SCNN1A_000009" "g.[6472752G>A;6472753C>A]" "0.024" "{PMID:19462466:Azad 2009}" "" "c.540_541delinsTT" "variants 540G>T and 541C>T always occur in cis, in dbSNP rs61759862 and rs55797039" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000172937" "0" "55" "12" "6472752" "6472752" "subst" "0.0184008" "02052" "SCNN1A_000010" "g.6472752G>A" "" "{PMID:19462466:Azad 2009}" "" "" "NOTE: variant reported to occur always in cis with c.540G>T" "Germline" "" "rs55797039" "0" "" "" "g.6363586G>A" "" "VUS" "" "0000172938" "0" "55" "12" "6464581" "6464581" "subst" "0.0784418" "02052" "SCNN1A_000011" "g.6464581C>T" "0.039" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs11542844" "0" "" "" "g.6355415C>T" "" "VUS" "" "0000172939" "0" "55" "12" "6458467" "6458467" "subst" "1.62652E-5" "02052" "SCNN1A_000012" "g.6458467C>T" "" "{PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs61759912" "0" "" "" "g.6349301C>T" "" "VUS" "" "0000172940" "0" "55" "12" "6458350" "6458350" "subst" "0.0193582" "02052" "SCNN1A_000013" "g.6458350A>G" "0.018" "{PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs5742912" "0" "" "" "g.6349184A>G" "" "VUS" "" "0000172941" "0" "55" "12" "6457943" "6457945" "del" "0" "02052" "SCNN1A_000014" "g.6457943_6457945del" "" "{PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs61759913" "0" "" "" "g.6348777_6348779del" "" "VUS" "" "0000172942" "0" "55" "12" "6457332" "6457332" "subst" "0.000861221" "02052" "SCNN1A_000015" "g.6457332C>T" "" "{PMID:Mutesa 2008:19017867}" "" "" "" "Germline" "" "rs59142484" "0" "" "" "g.6348166C>T" "" "VUS" "" "0000172943" "0" "55" "12" "6457062" "6457062" "subst" "0.695185" "02052" "SCNN1A_000016" "g.6457062T>C" "0.648" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs2228576" "0" "" "" "g.6347896T>C" "" "VUS" "" "0000172944" "0" "55" "12" "6457051" "6457051" "dup" "0" "02052" "SCNN1A_000017" "g.6457051dup" "" "{PMID:19462466:Azad 2009}" "" "" "" "Germline" "" "rs61759914" "0" "" "" "g.6347885dup" "" "VUS" "" "0000298034" "0" "10" "12" "6457062" "6457062" "subst" "0.695185" "02325" "SCNN1A_000016" "g.6457062T>C" "" "" "" "SCNN1A(NM_001159576.2):c.2164A>G (p.T722A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6347896T>C" "" "benign" "" "0000338574" "0" "90" "12" "6463603" "6463603" "subst" "0" "02327" "SCNN1A_000021" "g.6463603C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6354437C>A" "" "pathogenic" "" "0000340357" "0" "10" "12" "6486525" "6486525" "subst" "0" "02327" "LTBR_000001" "g.6486525T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6377359T>C" "" "benign" "" "0000341380" "0" "10" "12" "6464581" "6464581" "subst" "0.0784418" "02327" "SCNN1A_000011" "g.6464581C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6355415C>T" "" "benign" "" "0000344399" "0" "50" "12" "6458497" "6458497" "subst" "9.80144E-5" "02327" "SCNN1A_000020" "g.6458497A>G" "" "" "" "SCNN1A(NM_001038.6):c.1435T>C (p.C479R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6349331A>G" "" "VUS" "" "0000346957" "0" "10" "12" "6472753" "6472753" "subst" "0.0184075" "02327" "SCNN1A_000023" "g.6472753C>A" "" "" "" "SCNN1A():g.6472753C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6363587C>A" "" "benign" "" "0000349132" "0" "30" "12" "6457071" "6457071" "subst" "0" "02327" "SCNN1A_000019" "g.6457071T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6347905T>C" "" "likely benign" "" "0000349593" "0" "10" "12" "6457062" "6457062" "subst" "0.695185" "02327" "SCNN1A_000016" "g.6457062T>C" "" "" "" "SCNN1A(NM_001159576.2):c.2164A>G (p.T722A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6347896T>C" "" "benign" "" "0000351318" "0" "90" "12" "6463603" "6463603" "subst" "0" "02327" "SCNN1A_000022" "g.6463603C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6354437C>G" "" "pathogenic" "" "0000461183" "0" "90" "12" "6483784" "6483784" "subst" "1.63193E-5" "02547" "SCNN1A_000024" "g.6483784G>A" "" "{PMID:Kerem 1999:10403853}" "" "" "" "Germline" "yes" "rs778872550" "0" "" "" "g.6374618G>A" "" "pathogenic (recessive)" "" "0000461209" "3" "90" "12" "6483761" "6483761" "subst" "0" "02547" "SCNN1A_000025" "g.6483761G>T" "" "{PMID:Welzel 2013:23416952}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6374595G>T" "" "pathogenic (recessive)" "" "0000461210" "3" "90" "12" "6483746" "6483747" "del" "0" "02547" "SCNN1A_000026" "g.6483746_6483747del" "" "{PMID:Chang 1996:8589714}" "" "" "" "Germline" "yes" "rs765835593" "0" "" "" "g.6374580_6374581del" "{CV:9263}" "pathogenic (recessive)" "" "0000461211" "3" "90" "12" "6483746" "6483747" "del" "0" "02547" "SCNN1A_000026" "g.6483746_6483747del" "" "{PMID:Chang 1996:8589714}" "" "" "" "Germline" "yes" "rs765835593" "0" "" "" "g.6374580_6374581del" "" "pathogenic (recessive)" "" "0000461212" "3" "90" "12" "6483746" "6483747" "del" "0" "02547" "SCNN1A_000026" "g.6483746_6483747del" "" "{PMID:Chang 1996:8589714}" "" "" "" "Germline" "yes" "rs765835593" "0" "" "" "g.6374580_6374581del" "" "pathogenic (recessive)" "" "0000461214" "3" "90" "12" "6483649" "6483649" "subst" "0" "02547" "SCNN1A_000027" "g.6483649G>T" "" "{PMID:Mora-Lopez 2012:22371258}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6374483G>T" "" "pathogenic (recessive)" "" "0000461215" "0" "90" "12" "6483534" "6483534" "subst" "0" "02547" "SCNN1A_000028" "g.6483534C>T" "" "{PMID:Kala Ahluwalia 2014:25548639}" "" "" "" "Germline" "yes" "rs370256768" "0" "" "" "g.6374368C>T" "" "pathogenic (recessive)" "" "0000461216" "0" "90" "12" "6463603" "6463603" "subst" "0" "02547" "SCNN1A_000021" "g.6463603C>A" "" "{PMID:Kala Ahluwalia 2014:25548639}" "" "" "" "Germline" "yes" "rs573376286" "0" "" "" "g.6354437C>A" "" "pathogenic (recessive)" "" "0000461223" "0" "90" "12" "6472788" "6472789" "del" "0" "02547" "SCNN1A_000029" "g.6472788_6472789del" "" "{PMID:Kerem 1999:10403853}" "" "" "" "Germline" "yes" "rs1014590535" "0" "" "" "g.6363622_6363623del" "" "pathogenic (recessive)" "" "0000461224" "0" "90" "12" "6463659" "6463659" "del" "8.12216E-6" "02547" "SCNN1A_000034" "g.6463659del" "" "{PMID:Kerem 1999:10403853}" "" "" "" "Germline" "yes" "rs758014063" "0" "" "" "g.6354493del" "" "pathogenic (recessive)" "" "0000461246" "0" "90" "12" "6472705" "6472705" "dup" "0" "02547" "SCNN1A_000030" "g.6472705dup" "" "{PMID:Welzel 2013:23416952}" "" "" "" "Germline" "" "" "0" "" "" "g.6363539dup" "" "pathogenic (recessive)" "" "0000461247" "3" "90" "12" "6472705" "6472705" "dup" "0" "02547" "SCNN1A_000030" "g.6472705dup" "" "{PMID:Welzel 2013:23416952}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6363539dup" "" "pathogenic (recessive)" "" "0000461248" "3" "90" "12" "6472607" "6472607" "subst" "0" "02547" "SCNN1A_000031" "g.6472607A>T" "" "{PMID:Ekinci 2013:23813355}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6363441A>T" "" "pathogenic (recessive)" "" "0000461249" "3" "90" "12" "6471365" "6471365" "subst" "4.06055E-6" "02547" "SCNN1A_000032" "g.6471365A>G" "" "{PMID:Dirlewanger 2011:21653223}" "" "" "" "Germline" "yes" "rs776069930" "0" "" "" "g.6362199A>G" "" "pathogenic (recessive)" "" "0000461264" "20" "90" "12" "6471363" "6471363" "del" "0" "02547" "SCNN1A_000033" "g.6471363del" "" "{PMID:Schaedel 1999:10586178}" "" "" "" "Germline" "yes" "rs1592074026" "0" "" "" "g.6362197del" "{CV:9266}, {CV-RCV:000009848.2}" "pathogenic (recessive)" "" "0000461265" "10" "90" "12" "6458378" "6458378" "del" "0.00013401" "02547" "SCNN1A_000035" "g.6458378del" "" "{PMID:Schaedel 1999:10586178}" "" "" "" "Germline" "yes" "rs756434927" "0" "" "" "g.6349212del" "{CV:9265}, {CV-RCV:000009847.2}" "pathogenic (recessive)" "" "0000461266" "21" "90" "12" "6471363" "6471363" "del" "0" "02547" "SCNN1A_000033" "g.6471363del" "" "{PMID:Schaedel 1999:10586178}" "" "" "" "Germline" "yes" "rs1592074026" "0" "" "" "g.6362197del" "{CV:9266}, {CV-RCV:000009848.2}" "pathogenic (recessive)" "" "0000461267" "11" "90" "12" "6458378" "6458378" "del" "0.00013401" "02547" "SCNN1A_000035" "g.6458378del" "" "{PMID:Schaedel 1999:10586178}" "" "" "" "Germline" "yes" "rs765434927" "0" "" "" "g.6349212del" "{CV:9265}, {CV-RCV:000009847.2}" "pathogenic (recessive)" "" "0000461268" "3" "90" "12" "6471351" "6471351" "del" "0" "02547" "SCNN1A_000051" "g.6471351del" "" "{PMID:Welzel 2013:23416952}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6362185del" "" "pathogenic (recessive)" "" "0000461273" "3" "90" "12" "6471279" "6471279" "dup" "0" "02547" "SCNN1A_000037" "g.6471279dup" "" "{PMID:Wang (2013):23762408}" "" "" "" "Germline" "yes" "rs747904876" "0" "" "" "g.6362113dup" "" "pathogenic (recessive)" "" "0000461274" "3" "90" "12" "6471215" "6471215" "dup" "0" "02547" "SCNN1A_000038" "g.6471215dup" "" "{PMID:Silva (2013):23031435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6362049dup" "{CV:871275}" "pathogenic (recessive)" "" "0000461275" "21" "90" "12" "6464943" "6464943" "subst" "0" "02547" "SCNN1A_000039" "g.6464943C>A" "" "{PMID:Edelheit (2005):15853823}" "" "" "" "Germline" "yes" "rs974854786" "0" "" "" "g.6355777C>A" "" "pathogenic (recessive)" "" "0000461276" "11" "90" "12" "6463659" "6463659" "del" "8.12216E-6" "02547" "SCNN1A_000034" "g.6463659del" "" "{PMID:Kerem (1999):10403853}" "" "" "" "Germline" "yes" "rs758014063" "0" "" "" "g.6354493del" "" "pathogenic (recessive)" "" "0000461277" "21" "90" "12" "6463653" "6463653" "del" "0" "02547" "SCNN1A_000050" "g.6463653del" "" "{PMID:Wang (2013):23762408}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6354487del" "" "pathogenic (recessive)" "" "0000461278" "11" "90" "12" "6458492" "6458492" "subst" "8.15621E-6" "02547" "SCNN1A_000045" "g.6458492C>G" "" "{PMID:Wang (2013):23762408}" "" "" "" "Germline" "yes" "rs1369791519" "0" "" "" "g.6349326C>G" "" "pathogenic (recessive)" "" "0000461279" "3" "90" "12" "6463625" "6463625" "dup" "0" "02547" "SCNN1A_000049" "g.6463625dup" "" "{PMID:Saxena (2002):12107247}" "" "" "" "Germline" "yes" "rs754323537" "0" "" "" "g.6354459dup" "" "pathogenic (recessive)" "" "0000461280" "3" "90" "12" "6463619" "6463622" "dup" "0" "02547" "SCNN1A_000048" "g.6463619_6463622dup" "" "{PMID:Welzel (2013):23416952}" "" "1342_1343insTACA" "" "Germline" "yes" "" "0" "" "" "g.6354453_6354456dup" "" "pathogenic (recessive)" "" "0000461281" "3" "90" "12" "6463609" "6463609" "del" "0" "02547" "SCNN1A_000047" "g.6463609del" "" "{PMID:Edelheit (2005):15853823}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6354443del" "" "pathogenic (recessive)" "" "0000461282" "3" "90" "12" "6458573" "6458573" "subst" "0" "02547" "SCNN1A_000046" "g.6458573T>C" "" "{PMID:Welzel (2013):23416952}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6349407T>C" "{CV:992425}" "pathogenic (recessive)" "" "0000461283" "3" "90" "12" "6458378" "6458378" "del" "0.00013401" "02547" "SCNN1A_000035" "g.6458378del" "" "{PMID:Schaedel (1999):10586178}" "" "" "" "Germline" "yes" "rs756434927" "0" "" "" "g.6349212del" "RSV000009847.2 {CV:9265}" "pathogenic (recessive)" "" "0000461284" "21" "90" "12" "6458378" "6458378" "del" "0.00013401" "02547" "SCNN1A_000035" "g.6458378del" "" "{PMID:Schaedel (1999):10586178}" "" "" "" "Germline" "yes" "rs756434927" "0" "" "" "g.6349212del" "RSV000009847.2 {CV:9265}" "pathogenic (recessive)" "" "0000461285" "11" "90" "12" "6457364" "6457364" "subst" "1.21865E-5" "02547" "SCNN1A_000036" "g.6457364G>A" "" "{PMID:Schaedel (1999):10586178}" "" "" "" "Germline" "yes" "rs137852635" "0" "" "" "g.6348198G>A" "{CV-RCV:000009849}, {CV:9267}" "pathogenic (recessive)" "" "0000461298" "3" "90" "12" "6458353" "6458353" "subst" "1.62447E-5" "02547" "SCNN1A_000044" "g.6458353G>A" "" "{PMID:Bonny (2002):12376807}" "" "" "" "Germline" "yes" "rs775543049" "0" "" "" "g.6349187G>A" "" "pathogenic (recessive)" "" "0000461299" "3" "90" "12" "6458353" "6458353" "subst" "1.62447E-5" "02547" "SCNN1A_000044" "g.6458353G>A" "" "{PMID:Bonny (2002):12376807}" "" "" "" "Germline" "yes" "rs775543049" "0" "" "" "g.6349187G>A" "" "pathogenic (recessive)" "" "0000461300" "3" "90" "12" "6458353" "6458353" "subst" "1.62447E-5" "02547" "SCNN1A_000044" "g.6458353G>A" "" "{PMID:Bonny (2002):12376807}" "" "" "" "Germline" "yes" "rs775543049" "0" "" "" "g.6349187G>A" "" "pathogenic (recessive)" "" "0000461302" "3" "90" "12" "6458147" "6458147" "subst" "2.03036E-5" "02547" "SCNN1A_000043" "g.6458147G>A" "" "{PMID:Chang (1996):8589714}" "" "" "" "Germline" "yes" "rs137852634" "0" "" "" "g.6348981G>A" "{CV-RCV:000009846.2}, {CV:9264}" "pathogenic (recessive)" "" "0000461303" "3" "90" "12" "6458147" "6458147" "subst" "2.03036E-5" "02547" "SCNN1A_000043" "g.6458147G>A" "" "{PMID:Kerem (1999):10403853}" "" "" "" "Germline" "yes" "rs137852634" "0" "" "" "g.6348981G>A" "{CV-RCV:000009846.2}, {CV:9264}" "pathogenic (recessive)" "" "0000461304" "3" "90" "12" "6458147" "6458147" "subst" "2.03036E-5" "02547" "SCNN1A_000043" "g.6458147G>A" "" "{PMID:Chang (1996):8589714}" "" "" "" "Germline" "yes" "rs137852634" "0" "" "" "g.6348981G>A" "{CV-RCV:000009846.2}, {CV:9264}" "pathogenic (recessive)" "" "0000461305" "3" "90" "12" "6458147" "6458147" "subst" "2.03036E-5" "02547" "SCNN1A_000043" "g.6458147G>A" "" "{PMID:Saxena (2002):12107247}" "" "" "" "Germline" "yes" "rs137852634" "0" "" "" "g.6348981G>A" "{CV-RCV:000009846.2}, {CV:9264}" "pathogenic (recessive)" "" "0000461306" "3" "90" "12" "6458147" "6458147" "subst" "2.03036E-5" "02547" "SCNN1A_000043" "g.6458147G>A" "" "{PMID:Belot (2008):18424465}" "" "" "" "Germline" "yes" "rs137852634" "0" "" "" "g.6348981G>A" "{CV-RCV:000009846.2}, {CV:9264}" "pathogenic (recessive)" "" "0000461307" "3" "90" "12" "6457943" "6457945" "del" "0" "02547" "SCNN1A_000042" "g.6457943_6457945del" "" "{PMID:Turan (2018):29582446}" "" "" "" "Germline" "yes" "rs61759913" "0" "" "" "g.6348777_6348779del" "" "pathogenic (recessive)" "" "0000461308" "3" "90" "12" "6457943" "6457945" "del" "0" "02547" "SCNN1A_000042" "g.6457943_6457945del" "" "{PMID:Turan (2018):29582446}" "" "" "" "Germline" "yes" "rs61759913" "0" "" "" "g.6348777_6348779del" "" "pathogenic (recessive)" "" "0000461309" "3" "90" "12" "6457371" "6457371" "subst" "8.1242E-6" "02547" "SCNN1A_000041" "g.6457371C>T" "" "{PMID:Huppmann (2011):22124517}" "" "" "" "Germline" "yes" "rs772866436" "0" "" "" "g.6348205C>T" "" "pathogenic (recessive)" "" "0000461310" "3" "90" "12" "6457371" "6457371" "subst" "8.1242E-6" "02547" "SCNN1A_000041" "g.6457371C>T" "" "{PMID:Turan (2018):29582446}" "" "" "" "Germline" "yes" "rs772866436" "0" "" "" "g.6348205C>T" "" "pathogenic (recessive)" "" "0000461316" "3" "90" "12" "6457365" "6457365" "subst" "0" "02547" "SCNN1A_000040" "g.6457365A>G" "" "{PMID:Riepe (2009):18547339}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6348199A>G" "" "pathogenic (recessive)" "" "0000461318" "3" "90" "12" "6457364" "6457364" "subst" "1.21865E-5" "02547" "SCNN1A_000036" "g.6457364G>A" "" "{PMID:Nur (2017):28484659}" "" "" "" "Germline" "yes" "rs137852635" "0" "" "" "g.6348198G>A" "{CV-RCV:000009849}, {CV:9267}" "pathogenic (recessive)" "" "0000461319" "3" "90" "12" "6457364" "6457364" "subst" "1.21865E-5" "02547" "SCNN1A_000036" "g.6457364G>A" "" "{PMID:Nur (2017):28484659}" "" "" "" "Germline" "yes" "rs137852635" "0" "" "" "g.6348198G>A" "{CV-RCV:0009849}, {CV:9267}" "pathogenic (recessive)" "" "0000480163" "3" "90" "12" "6483744" "6483744" "subst" "0" "02547" "SCNN1A_000053" "g.6483744T>C" "" "{PMID:Cayir (2019):31018202}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6374578T>C" "" "pathogenic (recessive)" "" "0000480164" "3" "90" "12" "6472698" "6472698" "dup" "0" "02547" "SCNN1A_000052" "g.6472698dup" "" "{PMID:Cayir (2019):31018202}" "" "" "" "Germline" "yes" "rs759611286" "0" "" "" "g.6363532dup" "" "pathogenic (recessive)" "" "0000548958" "0" "50" "12" "6457277" "6457277" "subst" "0.00015048" "01943" "LTBR_000002" "g.6457277C>T" "" "" "" "SCNN1A(NM_001159576.1):c.1949G>A (p.R650Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6348111C>T" "" "VUS" "" "0000548959" "0" "10" "12" "6458350" "6458350" "subst" "0.0193582" "02327" "SCNN1A_000013" "g.6458350A>G" "" "" "" "SCNN1A(NM_001159576.2):c.1654T>C (p.W552R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6349184A>G" "" "benign" "" "0000548960" "0" "30" "12" "6458350" "6458350" "subst" "0.0193582" "02325" "SCNN1A_000013" "g.6458350A>G" "" "" "" "SCNN1A(NM_001159576.2):c.1654T>C (p.W552R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6349184A>G" "" "likely benign" "" "0000548962" "0" "50" "12" "6463606" "6463606" "subst" "0" "01943" "LTBR_000003" "g.6463606C>A" "" "" "" "SCNN1A(NM_001159576.1):c.1535G>T (p.W512L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6354440C>A" "" "VUS" "" "0000595078" "3" "90" "12" "6483733" "6483733" "subst" "4.07027E-6" "02547" "SCNN1A_000054" "g.6483733G>A" "" "{PMID:Gopal-Kothandapani (2019):31301676}" "" "" "" "Germline" "yes" "rs763345732" "0" "" "" "g.6374567G>A" "" "pathogenic (recessive)" "" "0000614356" "0" "30" "12" "6483843" "6483843" "subst" "8.14863E-6" "01943" "LTBR_000004" "g.6483843G>A" "" "" "" "SCNN1A(NM_001159576.1):c.284C>T (p.A95V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6374677G>A" "" "likely benign" "" "0000622958" "0" "50" "12" "6484669" "6484669" "subst" "0" "01943" "LTBR_000005" "g.6484669A>G" "" "" "" "SCNN1A(NM_001038.5):c.-55+2T>C, SCNN1A(NM_001038.6):c.-55+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6375503A>G" "" "VUS" "" "0000648640" "1" "10" "12" "6457196" "6457196" "subst" "0.00685777" "03575" "SCNN1A_000055" "g.6457196C>A" "10/2770 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs3741913}" "Germline" "" "rs3741913" "0" "" "" "g.6348030C>A" "" "benign" "" "0000648641" "1" "30" "12" "6458343" "6458343" "subst" "0.00115332" "03575" "SCNN1A_000056" "g.6458343G>A" "16/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "16 heterozygous, no homozygous; {DB:CLININrs148749888}" "Germline" "" "rs148749888" "0" "" "" "g.6349177G>A" "" "likely benign" "" "0000648643" "1" "50" "12" "6464584" "6464584" "subst" "0.000159559" "03575" "SCNN1A_000057" "g.6464584G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous; {DB:CLININrs146177203}" "Germline" "" "rs146177203" "0" "" "" "g.6355418G>A" "" "VUS" "" "0000657176" "0" "50" "12" "6457051" "6457051" "dup" "0" "01943" "LTBR_000006" "g.6457051dup" "" "" "" "SCNN1A(NM_001159576.1):c.2181dupG (p.P728Afs*62)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6347885dup" "" "VUS" "" "0000669192" "3" "30" "12" "6458350" "6458350" "subst" "0.0193582" "03575" "SCNN1A_000013" "g.6458350A>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs5742912}" "Germline" "" "rs5742912" "0" "" "" "g.6349184A>G" "" "likely benign" "" "0000669193" "3" "50" "12" "6464584" "6464584" "subst" "0.000159559" "03575" "SCNN1A_000057" "g.6464584G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs146177203}" "Germline" "" "rs146177203" "0" "" "" "g.6355418G>A" "" "VUS" "" "0000673859" "2" "70" "12" "6458492" "6458492" "subst" "8.15621E-6" "03695" "SCNN1A_000045" "g.6458492C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000673860" "2" "70" "12" "6471216" "6471216" "subst" "0" "03695" "SCNN1A_000058" "g.6471216C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000673861" "2" "70" "12" "6458492" "6458492" "subst" "8.15621E-6" "03695" "SCNN1A_000045" "g.6458492C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691407" "0" "70" "12" "6457943" "6457945" "del" "0" "02327" "SCNN1A_000014" "g.6457943_6457945del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691408" "0" "10" "12" "6458350" "6458350" "subst" "0.0193582" "02326" "SCNN1A_000013" "g.6458350A>G" "" "" "" "SCNN1A(NM_001159576.2):c.1654T>C (p.W552R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000691409" "0" "90" "12" "6463915" "6463915" "subst" "0" "02327" "LTBR_000007" "g.6463915C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000714916" "3" "90" "12" "6457951" "6457951" "subst" "0" "02547" "SCNN1A_000059" "g.6457951A>G" "" "{PMID:Gopal-Kothandapani 2019:31301676}" "" "" "" "Germline" "yes" "" "" "" "" "g.6348785A>G" "" "pathogenic (recessive)" "" "0000714917" "3" "90" "12" "6457951" "6457951" "subst" "0" "02547" "SCNN1A_000059" "g.6457951A>G" "" "{PMID:Gopal-Kothandapani 2019:31301676}" "" "" "" "Germline" "yes" "" "" "" "" "g.6348785A>G" "" "pathogenic (recessive)" "" "0000724198" "0" "90" "12" "6458378" "6458378" "del" "0.00013401" "02329" "SCNN1A_000035" "g.6458378del" "" "" "" "SCNN1A(NM_001159576.2):c.1626delC (p.Y543Tfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000732655" "3" "90" "12" "6457943" "6457945" "del" "0" "02547" "SCNN1A_000014" "g.6457943_6457945del" "" "{PMID:Gopal-Kothandapani, 2019:31301676}" "" "" "" "Germline" "yes" "rs61759913" "" "" "" "g.6348777_6348779del" "" "pathogenic (recessive)" "" "0000732711" "3" "90" "12" "6458147" "6458147" "subst" "2.03036E-5" "02547" "SCNN1A_000043" "g.6458147G>A" "" "{PMID:Gopal-Kothandapani, 2019:31301676}" "" "" "" "Germline" "yes" "rs137852634" "" "" "" "g.6348981G>A" "9264" "pathogenic (recessive)" "" "0000732712" "3" "90" "12" "6458147" "6458147" "subst" "2.03036E-5" "02547" "SCNN1A_000043" "g.6458147G>A" "" "{PMID:Gopal-Kothandapani, 2019:31301676}" "" "" "" "Germline" "yes" "rs137852634" "" "" "" "g.6348981G>A" "9264" "pathogenic (recessive)" "" "0000780205" "3" "90" "12" "6471362" "6471363" "del" "0" "02547" "SCNN1A_000060" "g.6471362_6471363del" "" "{PMID:Huneif, 2021:33829730}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6362196_6362197del" "" "pathogenic (recessive)" "" "0000791075" "3" "90" "12" "6471408" "6471408" "subst" "0" "02547" "SCNN1A_000061" "g.6471408C>T" "" "{PMID:Serra G, 2021:34134742}" "" "" "" "Germline" "yes" "" "" "" "" "g.6362242C>T" "" "pathogenic" "" "0000805907" "0" "90" "12" "6458378" "6458378" "del" "0.00013401" "02327" "SCNN1A_000035" "g.6458378del" "" "" "" "SCNN1A(NM_001159576.2):c.1626delC (p.Y543Tfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000853501" "0" "30" "12" "6457114" "6457114" "subst" "0.000617724" "02326" "LTBR_000008" "g.6457114G>A" "" "" "" "SCNN1A(NM_001038.6):c.1935C>T (p.A645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853502" "0" "30" "12" "6458343" "6458343" "subst" "0.00115332" "01943" "SCNN1A_000056" "g.6458343G>A" "" "" "" "SCNN1A(NM_001038.6):c.1484C>T (p.S495L), SCNN1A(NM_001159576.1):c.1661C>T (p.S554L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853503" "0" "50" "12" "6463975" "6463975" "subst" "0" "01943" "LTBR_000009" "g.6463975T>G" "" "" "" "SCNN1A(NM_001159576.1):c.1360A>C (p.T454P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863104" "0" "30" "12" "6484669" "6484669" "subst" "0" "02326" "LTBR_000005" "g.6484669A>G" "" "" "" "SCNN1A(NM_001038.5):c.-55+2T>C, SCNN1A(NM_001038.6):c.-55+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890748" "0" "30" "12" "6458343" "6458343" "subst" "0.00115332" "02326" "SCNN1A_000056" "g.6458343G>A" "" "" "" "SCNN1A(NM_001038.6):c.1484C>T (p.S495L), SCNN1A(NM_001159576.1):c.1661C>T (p.S554L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890749" "0" "90" "12" "6458497" "6458497" "subst" "9.80144E-5" "02326" "SCNN1A_000020" "g.6458497A>G" "" "" "" "SCNN1A(NM_001038.6):c.1435T>C (p.C479R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913933" "0" "30" "12" "6457045" "6457045" "subst" "0.000264018" "02326" "LTBR_000010" "g.6457045C>A" "" "" "" "SCNN1A(NM_001038.6):c.2004G>T (p.G668=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913934" "0" "30" "12" "6483903" "6483903" "subst" "0" "02327" "LTBR_000011" "g.6483903G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925686" "0" "30" "12" "6457332" "6457332" "subst" "0.000861221" "02326" "SCNN1A_000015" "g.6457332C>T" "" "" "" "SCNN1A(NM_001038.6):c.1717G>A (p.V573I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000955374" "21" "50" "12" "6483988" "6483988" "subst" "0" "00006" "SCNN1A_000062" "g.6483988C>T" "" "{PMID:Rinne 2020:32535041}" "" "NM_001159576.1:c.139G>A (Glu47Lys)" "" "Germline" "no" "" "0" "" "" "g.6374822C>T" "" "VUS" "" "0000967041" "0" "30" "12" "6465059" "6465059" "subst" "0.000357352" "02326" "LTBR_000012" "g.6465059G>A" "" "" "" "SCNN1A(NM_001038.6):c.876-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000284" "0" "50" "12" "6458565" "6458565" "subst" "0" "02326" "LTBR_000013" "g.6458565C>T" "" "" "" "SCNN1A(NM_001038.6):c.1367G>A (p.C456Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015013" "0" "90" "12" "6472719" "6472719" "del" "1.28173E-5" "02329" "LTBR_000014" "g.6472719del" "" "" "" "SCNN1A(NM_001038.6):c.574delA (p.R192Gfs*57)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046393" "0" "30" "12" "6458129" "6458129" "subst" "2.43635E-5" "02326" "LTBR_000015" "g.6458129C>T" "" "" "" "SCNN1A(NM_001038.6):c.1540G>A (p.V514I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 SCNN1A ## Count = 117 "{{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}}" "0000172928" "00018529" "55" "-93" "0" "-93" "0" "c.-93A>G" "r.(?)" "p.(=)" "1" "0000172929" "00018529" "55" "-55" "5" "-55" "5" "c.-55+5G>C" "r.(?)" "p.(?)" "1i" "0000172930" "00018529" "55" "-54" "-14" "-54" "-14" "c.-54-14C>T" "r.(?)" "p.(?)" "1i" "0000172931" "00018529" "55" "-28" "0" "-28" "0" "c.-28T>C" "r.(?)" "p.(=)" "2" "0000172932" "00018529" "55" "99" "0" "99" "0" "c.99C>T" "r.(?)" "p.(=)" "2" "0000172933" "00018529" "55" "183" "0" "183" "0" "c.183C>A" "r.(?)" "p.(Phe61Leu)" "2" "0000172934" "00018529" "55" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Arg81Cys)" "2" "0000172935" "00018529" "55" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Val114Ile)" "2" "0000172936" "00018529" "55" "540" "0" "540" "0" "c.[540G>T;541C>T]" "r.(?)" "p.(Arg181Trp)" "3" "0000172937" "00018529" "55" "541" "0" "541" "0" "c.541C>T" "r.(?)" "p.(Arg181Trp)" "3" "0000172938" "00018529" "55" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Ala334Thr)" "6" "0000172939" "00018529" "55" "1439" "26" "1439" "26" "c.1439+26G>A" "r.(?)" "p.(?)" "9i" "0000172940" "00018529" "55" "1477" "0" "1477" "0" "c.1477T>C" "r.(?)" "p.(Trp493Arg)" "10" "0000172941" "00018529" "55" "1582" "0" "1584" "0" "c.1582_1584del" "r.(?)" "p.(Phe528del)" "12" "0000172942" "00018529" "55" "1717" "0" "1717" "0" "c.1717G>A" "r.(?)" "p.(Val573Ile)" "13" "0000172943" "00018529" "55" "1987" "0" "1987" "0" "c.1987A>G" "r.(?)" "p.(Thr663Ala)" "13" "0000172944" "00018529" "55" "2004" "0" "2004" "0" "c.2004dup" "r.(?)" "p.(Pro669Alafs*62)" "13" "0000298034" "00018529" "10" "1987" "0" "1987" "0" "c.1987A>G" "r.(?)" "p.(Thr663Ala)" "" "0000338574" "00018529" "90" "1360" "1" "1360" "1" "c.1360+1G>T" "r.spl?" "p.?" "" "0000340357" "00018529" "10" "-1909" "0" "-1909" "0" "c.-1909A>G" "r.(?)" "p.(=)" "" "0000341380" "00018529" "10" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Ala334Thr)" "" "0000344399" "00018529" "50" "1435" "0" "1435" "0" "c.1435T>C" "r.(?)" "p.(Cys479Arg)" "" "0000346957" "00018529" "10" "540" "0" "540" "0" "c.540G>T" "r.(?)" "p.(Leu180=)" "" "0000349132" "00018529" "30" "1978" "0" "1978" "0" "c.1978A>G" "r.(?)" "p.(Ser660Gly)" "" "0000349593" "00018529" "10" "1987" "0" "1987" "0" "c.1987A>G" "r.(?)" "p.(Thr663Ala)" "" "0000351318" "00018529" "90" "1360" "1" "1360" "1" "c.1360+1G>C" "r.spl?" "p.?" "" "0000461183" "00018529" "90" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56*)" "2" "0000461209" "00018529" "90" "189" "0" "189" "0" "c.189C>A" "r.(?)" "p.(Cys63*)" "2" "0000461210" "00018529" "90" "203" "0" "204" "0" "c.203_204del" "r.(?)" "p.(Ile68Thrfs*76)" "2" "0000461211" "00018529" "90" "203" "0" "204" "0" "c.203_204del" "r.(?)" "p.(Ile68Thrfs*76)" "2" "0000461212" "00018529" "90" "203" "0" "204" "0" "c.203_204del" "r.(?)" "p.(Ile68Thrfs*76)" "2" "0000461214" "00018529" "90" "301" "0" "301" "0" "c.301C>A" "r.(?)" "p.(Gln101Lys)" "2" "0000461215" "00018529" "90" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139Lys)" "2" "0000461216" "00018529" "90" "1360" "1" "1360" "1" "c.1360+1G>T" "r.spl" "p.?" "" "0000461223" "00018529" "90" "505" "0" "506" "0" "c.505_506del" "r.(?)" "p.(Thr169Serfs*36)" "3" "0000461224" "00018529" "90" "1305" "0" "1305" "0" "c.1305del" "r.(?)" "p.(Tyr436Ilefs*46)" "8" "0000461246" "00018529" "90" "588" "0" "588" "0" "c.588dup" "r.(?)" "p.(Pro197Alafs*9)" "3" "0000461247" "00018529" "90" "588" "0" "588" "0" "c.588dup" "r.(?)" "p.(ProAla197fs*9)" "3" "0000461248" "00018529" "90" "684" "2" "684" "2" "c.684+2T>A" "r.spl" "p.?" "" "0000461249" "00018529" "90" "727" "0" "727" "0" "c.727T>C" "r.(?)" "p.(Ser243Pro)" "4" "0000461264" "00018529" "90" "729" "0" "729" "0" "c.729del" "r.(?)" "p.(Val245Trpfs*4)" "4" "0000461265" "00018529" "90" "1449" "0" "1449" "0" "c.1449del" "r.(?)" "p.(Tyr484Thrfs*13)" "10" "0000461266" "00018529" "90" "729" "0" "729" "0" "c.729del" "r.(?)" "p.(Val245Trpfs*4)" "4" "0000461267" "00018529" "90" "1449" "0" "1449" "0" "c.1449del" "r.(?)" "p.(Tyr484Thrfs*13)" "10" "0000461268" "00018529" "90" "742" "0" "742" "0" "c.742del" "r.(?)" "p.(Val248*)" "4" "0000461273" "00018529" "90" "814" "0" "814" "0" "c.814dup" "r.(?)" "p.(Glu272Glyfs*39)" "4" "0000461274" "00018529" "90" "875" "2" "875" "2" "c.875+2dup" "r.(spl?)" "p.?" "" "0000461275" "00018529" "90" "979" "0" "979" "0" "c.979G>T" "r.(?)" "p.(Gly327Cys)" "5" "0000461276" "00018529" "90" "1305" "0" "1305" "0" "c.1305del" "r.(?)" "p.(Tyr436Ilefs*46)" "8" "0000461277" "00018529" "90" "1311" "0" "1311" "0" "c.1311del" "r.(?)" "p.(Arg438Glyfs*44)" "8" "0000461278" "00018529" "90" "1439" "1" "1439" "1" "c.1439+1G>C" "r.0?" "p.?" "" "0000461279" "00018529" "90" "1339" "0" "1339" "0" "c.1339dup" "r.(?)" "p.(Tyr447Leufs*13)" "8" "0000461280" "00018529" "90" "1344" "0" "1347" "0" "c.1344_1347dup" "r.(?)" "p.(His450Lysfs*11)" "8" "0000461281" "00018529" "90" "1356" "0" "1356" "0" "c.1356del" "r.(?)" "p.(Trp453Glyfs*29)" "8" "0000461282" "00018529" "90" "1361" "-2" "1361" "-2" "c.1361-2A>G" "r.(spl?)" "p.?" "" "0000461283" "00018529" "90" "1449" "0" "1449" "0" "c.1449del" "r.(?)" "p.(Tyr484Thrfs*13)" "10" "0000461284" "00018529" "90" "1449" "0" "1449" "0" "c.1449del" "r.(?)" "p.(Tyr484Thrfs*13)" "10" "0000461285" "00018529" "90" "1685" "0" "1685" "0" "c.1685C>T" "r.(?)" "p.(Ser562Leu)" "13" "0000461298" "00018529" "90" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(Arg492*)" "10" "0000461299" "00018529" "90" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(Arg492*)" "10" "0000461300" "00018529" "90" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(Arg492*)" "10" "0000461302" "00018529" "90" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508*)" "11" "0000461303" "00018529" "90" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508*)" "11" "0000461304" "00018529" "90" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508*)" "11" "0000461305" "00018529" "90" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508*)" "11" "0000461306" "00018529" "90" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508*)" "11" "0000461307" "00018529" "90" "1582" "0" "1584" "0" "c.1582_1584del" "r.(?)" "p.(Phe528del)" "12" "0000461308" "00018529" "90" "1582" "0" "1584" "0" "c.1582_1584del" "r.(?)" "p.(Phe528del)" "12" "0000461309" "00018529" "90" "1678" "0" "1678" "0" "c.1678G>A" "r.(?)" "p.(Gly560Ser)" "13" "0000461310" "00018529" "90" "1678" "0" "1678" "0" "c.1678G>A" "r.(?)" "p.(Gly560Ser)" "13" "0000461316" "00018529" "90" "1684" "0" "1684" "0" "c.1684T>C" "r.(?)" "p.(Ser562Pro)" "13" "0000461318" "00018529" "90" "1685" "0" "1685" "0" "c.1685C>T" "r.(?)" "p.(Ser562Leu)" "13" "0000461319" "00018529" "90" "1685" "0" "1685" "0" "c.1685C>T" "r.(?)" "p.(Ser562Leu)" "13" "0000480163" "00018529" "90" "206" "0" "206" "0" "c.206A>G" "r.(?)" "p.(His69Arg)" "2" "0000480164" "00018529" "90" "598" "0" "598" "0" "c.598dup" "r.(?)" "p.(Ala200Glyfs*6)" "3" "0000548958" "00018529" "50" "1772" "0" "1772" "0" "c.1772G>A" "r.(?)" "p.(Arg591Gln)" "" "0000548959" "00018529" "10" "1477" "0" "1477" "0" "c.1477T>C" "r.(?)" "p.(Trp493Arg)" "" "0000548960" "00018529" "30" "1477" "0" "1477" "0" "c.1477T>C" "r.(?)" "p.(Trp493Arg)" "" "0000548962" "00018529" "50" "1358" "0" "1358" "0" "c.1358G>T" "r.(?)" "p.(Trp453Leu)" "" "0000595078" "00018529" "90" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Arg73Cys)" "2" "0000614356" "00018529" "30" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Ala36Val)" "" "0000622958" "00018529" "50" "-55" "2" "-55" "2" "c.-55+2T>C" "r.spl?" "p.?" "" "0000648640" "00018529" "10" "1853" "0" "1853" "0" "c.1853G>T" "r.(?)" "p.(Cys618Phe)" "" "0000648641" "00018529" "30" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ser495Leu)" "" "0000648643" "00018529" "50" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Arg333Cys)" "" "0000657176" "00018529" "50" "2004" "0" "2004" "0" "c.2004dup" "r.(?)" "p.(Pro669AlafsTer62)" "" "0000669192" "00018529" "30" "1477" "0" "1477" "0" "c.1477T>C" "r.(?)" "p.(Trp493Arg)" "" "0000669193" "00018529" "50" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Arg333Cys)" "" "0000673859" "00018529" "70" "1439" "1" "1439" "1" "c.1439+1G>C" "r.spl?" "p.?" "" "0000673860" "00018529" "70" "875" "1" "875" "1" "c.875+1G>A" "r.spl?" "p.?" "" "0000673861" "00018529" "70" "1439" "1" "1439" "1" "c.1439+1G>C" "r.spl?" "p.?" "" "0000691407" "00018529" "70" "1582" "0" "1584" "0" "c.1582_1584del" "r.(?)" "p.(Phe528del)" "" "0000691408" "00018529" "10" "1477" "0" "1477" "0" "c.1477T>C" "r.(?)" "p.(Trp493Arg)" "" "0000691409" "00018529" "90" "1242" "1" "1242" "1" "c.1242+1G>A" "r.spl?" "p.?" "" "0000714916" "00018529" "90" "1571" "0" "1571" "0" "c.1571C>T" "r.(?)" "p.(Val524Ala)" "12" "0000714917" "00018529" "90" "1571" "0" "1571" "0" "c.1571T>C" "r.(?)" "p.(Val524Ala)" "12" "0000724198" "00018529" "90" "1449" "0" "1449" "0" "c.1449del" "r.(?)" "p.(Tyr484ThrfsTer13)" "" "0000732655" "00018529" "90" "1582" "0" "1584" "0" "c.1582_1584del" "r.(?)" "p.(Phe528del)" "12" "0000732711" "00018529" "90" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508*)" "11" "0000732712" "00018529" "90" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508*)" "11" "0000780205" "00018529" "90" "729" "0" "730" "0" "c.729_730del" "r.(?)" "p.(Val245Glyfs*65)" "4" "0000791075" "00018529" "90" "685" "-1" "685" "-1" "c.685-1G>A" "r.spl" "p.?" "" "0000805907" "00018529" "90" "1449" "0" "1449" "0" "c.1449del" "r.(?)" "p.(Tyr484ThrfsTer13)" "" "0000853501" "00018529" "30" "1935" "0" "1935" "0" "c.1935C>T" "r.(?)" "p.(Ala645=)" "" "0000853502" "00018529" "30" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ser495Leu)" "" "0000853503" "00018529" "50" "1183" "0" "1183" "0" "c.1183A>C" "r.(?)" "p.(Thr395Pro)" "" "0000863104" "00018529" "30" "-55" "2" "-55" "2" "c.-55+2T>C" "r.spl?" "p.?" "" "0000890748" "00018529" "30" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ser495Leu)" "" "0000890749" "00018529" "90" "1435" "0" "1435" "0" "c.1435T>C" "r.(?)" "p.(Cys479Arg)" "" "0000913933" "00018529" "30" "2004" "0" "2004" "0" "c.2004G>T" "r.(?)" "p.(Gly668=)" "" "0000913934" "00018529" "30" "47" "0" "47" "0" "c.47C>A" "r.(?)" "p.(Ser16Tyr)" "" "0000925686" "00018529" "30" "1717" "0" "1717" "0" "c.1717G>A" "r.(?)" "p.(Val573Ile)" "" "0000955374" "00018529" "50" "-39" "0" "-39" "0" "c.-39G>A" "r.(?)" "p.(=)" "" "0000967041" "00018529" "30" "876" "-13" "876" "-13" "c.876-13C>T" "r.(=)" "p.(=)" "" "0001000284" "00018529" "50" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.(Cys456Tyr)" "" "0001015013" "00018529" "90" "574" "0" "574" "0" "c.574del" "r.(?)" "p.(Arg192Glyfs*57)" "" "0001046393" "00018529" "30" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Val514Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 83 "{{screeningid}}" "{{variantid}}" "0000107159" "0000172928" "0000107160" "0000172929" "0000107161" "0000172930" "0000107162" "0000172931" "0000107163" "0000172932" "0000107164" "0000172933" "0000107165" "0000172934" "0000107166" "0000172935" "0000107167" "0000172936" "0000107168" "0000172937" "0000107169" "0000172938" "0000107170" "0000172939" "0000107171" "0000172940" "0000107172" "0000172941" "0000107173" "0000172942" "0000107174" "0000172943" "0000107175" "0000172944" "0000227169" "0000461183" "0000227172" "0000461209" "0000227173" "0000461210" "0000227174" "0000461211" "0000227175" "0000461212" "0000227178" "0000461214" "0000227179" "0000461215" "0000227179" "0000461216" "0000227180" "0000461223" "0000227180" "0000461224" "0000227194" "0000461246" "0000227195" "0000461247" "0000227196" "0000461248" "0000227197" "0000461249" "0000227209" "0000461264" "0000227209" "0000461265" "0000227210" "0000461266" "0000227210" "0000461267" "0000227212" "0000461268" "0000227219" "0000461273" "0000227221" "0000461274" "0000227222" "0000461275" "0000227222" "0000461276" "0000227223" "0000461277" "0000227223" "0000461278" "0000227224" "0000461279" "0000227225" "0000461280" "0000227226" "0000461281" "0000227227" "0000461282" "0000227228" "0000461283" "0000227229" "0000461284" "0000227229" "0000461285" "0000227240" "0000461298" "0000227241" "0000461299" "0000227242" "0000461300" "0000227244" "0000461302" "0000227245" "0000461303" "0000227246" "0000461304" "0000227247" "0000461305" "0000227248" "0000461306" "0000227249" "0000461307" "0000227250" "0000461308" "0000227251" "0000461309" "0000227252" "0000461310" "0000227256" "0000461316" "0000227258" "0000461318" "0000227259" "0000461319" "0000236451" "0000480163" "0000236452" "0000480164" "0000264518" "0000595078" "0000291951" "0000648640" "0000291952" "0000648641" "0000291954" "0000648643" "0000305504" "0000669192" "0000305505" "0000669193" "0000307267" "0000673859" "0000307267" "0000673860" "0000307268" "0000673861" "0000330338" "0000714916" "0000330339" "0000714917" "0000334675" "0000732655" "0000334712" "0000732711" "0000334713" "0000732712" "0000372912" "0000780205" "0000378345" "0000791075" "0000446942" "0000955374"