### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCNN1B) # 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}}" "SCNN1B" "sodium channel, non-voltage-gated 1, beta subunit" "16" "p12.2-p12.1" "unknown" "NG_011908.1" "UD_132085310330" "" "https://www.LOVD.nl/SCNN1B" "" "1" "10600" "6338" "600760" "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/SCNN1B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-04-09 00:00:00" "00006" "2017-07-05 16:50:15" "00000" "2025-02-07 18:57:27" ## 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}}" "00018530" "SCNN1B" "sodium channel, nonvoltage-gated 1, beta" "001" "NM_000336.2" "" "NP_000327.2" "" "" "" "-176" "2421" "1923" "23313591" "23392620" "" "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" "" "" "00129" "BESC1" "bronchiectasis, with/without elevated sweat chloride, type 1, modifier of (BESC-1)" "AD" "211400" "" "" "" "00006" "2013-05-14 09:24:34" "00006" "2021-12-10 21:51:32" "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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SCNN1B" "00129" "SCNN1B" "01529" "SCNN1B" "02031" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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" "" "" "" "00106705" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00106706" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "African/white" "" "00106707" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00106708" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "African/white" "" "00106709" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}" "" "" "" "" "" "0" "" "" "African" "" "00106710" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}" "" "" "" "" "" "0" "" "" "African" "" "00106711" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}" "" "" "" "" "" "0" "" "" "African" "" "00106712" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00106713" "" "" "" "1" "" "02052" "{PMID:Mutesa 2008:19017867}" "" "" "" "" "" "0" "" "" "African" "" "00106714" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00106715" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00106716" "" "" "" "1" "" "02052" "{PMID:19462466:Azad 2009}" "" "" "" "" "" "0" "" "" "white" "" "00226267" "" "" "" "1" "" "02547" "{PMID:Chang (1996):8589714}" "" "M" "yes" "Israel" "" "0" "" "" "Arabic" "" "00226272" "" "" "" "1" "" "02547" "{PMID:Kerem (1999):10403853}" "" "F" "?" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00226273" "" "" "" "1" "" "02547" "{PMID:Belot (2008):18424465}" "" "F" "yes" "" "" "0" "" "" "" "" "00226275" "" "" "" "1" "" "02547" "{PMID:Edelheit (2010):20064610}" "" "F" "?" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00226276" "" "" "" "1" "" "02547" "{PMID:Dogan (2012):23426840}" "" "M" "no" "Turkey" "" "0" "" "" "" "" "00226277" "" "" "" "1" "" "02547" "{PMID:Nobel (2016):26807262}" "" "F" "?" "United States" "" "0" "" "" "African" "" "00226278" "" "" "" "1" "" "02547" "{PMID:Saxena (2002):12107247}" "" "M" "yes" "Scotland" "" "0" "" "" "" "" "00226279" "" "" "" "1" "" "02547" "{PMID:Edelheit (2005):15853823}" "" "M" "yes" "Israel" "" "0" "" "" "Arabic" "" "00235345" "" "" "" "1" "" "02547" "{PMID:Cayir (2019):31018202}" "" "M" "yes" "Turkey" "00y06m" "0" "" "" "" "" "00332560" "" "" "" "1" "" "02547" "{PMID:Seyhanli 2020:32351772}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00333489" "" "" "" "1" "" "02547" "{PMID:Gopal-Kothandapani, 2019:31301676}" "" "F" "yes" "United Kingdom (Great Britain)" "" "" "" "" "Asian Pakistani" "" "00377141" "" "" "" "1" "" "02547" "{PMID:Abdalla 2021:34165441}" "" "M" "yes" "Sudan" "" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00050458" "00198" "00106705" "00000" "00106706" "00000" "00106707" "00198" "00106708" "00000" "00106709" "00198" "00106710" "00198" "00106711" "00198" "00106712" "00198" "00106713" "00198" "00106714" "00198" "00106715" "00198" "00106716" "00198" "00226267" "02031" "00226272" "02031" "00226273" "02031" "00226275" "02031" "00226276" "02031" "00226277" "02031" "00226278" "02031" "00226279" "02031" "00235345" "02031" "00332560" "02031" "00333489" "02031" "00377141" "02031" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00129, 00198, 01529, 02031 ## Count = 23 "{{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" "" "" "" "" "" "" "" "" "" "" "" "0000084502" "00000" "00106705" "02052" "Unknown" "" "Normal" "" "" "" "" "" "" "" "" "" "" "" "0000084503" "00000" "00106706" "02052" "Unknown" "" "Normal" "" "" "" "" "" "" "" "" "" "" "" "0000084504" "00198" "00106707" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084505" "00000" "00106708" "02052" "Unknown" "" "Normal" "" "" "" "" "" "" "" "" "" "" "" "0000084506" "00198" "00106709" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084507" "00198" "00106710" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084508" "00198" "00106711" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084509" "00198" "00106712" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084510" "00198" "00106713" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084511" "00198" "00106714" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000084512" "00198" "00106715" "02052" "Unknown" "" "CF" "" "" "" "" "" "" "" "" "" "" "" "0000084513" "00198" "00106716" "02052" "Unknown" "" "CF-like" "" "" "" "" "" "" "" "" "" "" "" "0000171393" "02031" "00226267" "02547" "Familial, autosomal recessive" "" "Dehydration (HP:0001944), hypotension (HP:0002615), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperaldosteronism (HP:0000859)" "<00y01m" "" "Dehydration (HP:0001944), hypotension (HP:0002615), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942)" "" "" "" "" "" "" "" "" "0000171398" "02031" "00226272" "02547" "Familial, autosomal recessive" "18y" "Elevated sweat chloride (HP:0012236), renal salt wasting (HP:0000127), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperreninemia (plasma renin activity > 10 ng/mL/h (HP:0000841), hyperaldosteronism (HP:0000859), recurrent respiratory infections (HP:0002205), tachypnea (HP:0002789)" "<00y01m" "" "Salt wasting (HP:0000127), electrolyte disturbances" "" "" "" "" "" "" "" "" "0000171399" "02031" "00226273" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), renal salt wasting (HP:0000127), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)" "<00y01m" "" "Bullous dermatitis (HP:0001047)" "" "" "" "" "" "" "" "" "0000171401" "02031" "00226275" "02547" "Familial, autosomal recessive" "" "Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperaldosteronism (HP:0000859), elevated plasma renin activity (HP:0000841), elevated sweat chloride (HP:0012236), renal salt wasting (HP:0000127), seborrheic dermatitis (HP:0007569)" "<00y01m" "" "Lethargy (HP:0001254), inability to feed (HP:0008872)" "" "" "" "" "" "" "" "" "0000171403" "02031" "00226277" "02547" "Familial, autosomal recessive" "32y" "Hyperkalemia (HP:0002153), muscle pain (HP:0003326), increased plasma renin activity (HP:0000841), hyperaldosteronism (HP0000859), metabolic acidosis (HP:0001942). Serum Na+, lower normal range; serum K+, upper normal range." "<00y01m" "" "Lethargy (HP:0001254), hypovolemia (HP:0011106), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942)" "" "" "" "" "" "" "" "" "0000171405" "02031" "00226279" "02547" "Familial, autosomal recessive" "" "Hyperkalemia (HP:0002153), hyponatremia (HP:0002902), metabolic acidosis (HP:0001942), renal salt wasting (HP:0000127), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841). Recurrent episodes of vomiting (HP.0002013), hyperkalemia (HP:0002153), salt wasting (HP:0000127), dehydration (HP:0001944) necessitated frequent hospitalisation." "<00y01m" "" "Dehydration (HP:0001944), hypovolemic shock (HP:0031274)" "" "" "" "" "" "" "" "" "0000175609" "02031" "00235345" "02547" "Familial, autosomal recessive" "" "Vomiting (HP:0002013), poor feeding (HP:0008872), weight loss (HP:0001824), skin rash (HP:0001047), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), elevated sweat chloride (HP:0012236), tachycardia (HP:0001649), tachypnea (HP:0002789), metabolic acidosis (HP:0001942), renal salt wasting (HP:0000127), hyperaldosteronism (HP:0000859)." "<00y01m" "" "Vomiting (HP:0002013), poor feeding (HP:0008872), weight loss (HP:0001824)" "" "" "" "" "" "" "" "" "0000250748" "02031" "00332560" "02547" "Familial, autosomal recessive" "" "HP:0008872, HP:0002902, HP:0001944, HP:0002153, HP:0002615, HP:0001047, HP:0002904, HP:0001262, HP:0001942, HP:0000859, HP:0000841" "<00y01m" "" "HP:0008872, HP:0002902, HP:0001944, HP:0002153, HP:0002615, HP:0001047" "" "" "" "" "" "" "" "" "0000251674" "02031" "00333489" "02547" "Familial, autosomal recessive" "" "HP:0002902, HP:0002153, HP:0001942, HP:0002013, HP:0001824, HP:0008872, HP:0001944, HP:0001047" "<00y01m" "" "" "" "" "" "" "" "" "" "" "0000272306" "02031" "00377141" "02547" "Familial, autosomal recessive" "" "HP:0001945, HP:0002789, HP:0002902, HP:0002153, HP:0001944, HP:0002205, HP:0030828, HP:0012735, HP:0002013, HP:0002014, HP:0001824, HP:0001047, HP:0001942, HP:0000848, HP:0000859, HP:0012236, HP:0003119" "<00y01m" "<00y08m" "HP:0001945, HP:0002789, HP:0002902, HP:0002153, HP:0001944" "" "" "" "" "" "Systemic pseudohypoaldosteronism" "Congenital adrenal hyperplasia (CAH)" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{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" "" "" "0000107176" "00106705" "1" "02052" "02052" "2009-04-17 13:58:12" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107177" "00106706" "1" "02052" "02052" "2009-04-17 13:58:12" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107178" "00106707" "1" "02052" "02052" "2009-04-17 13:58:12" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107179" "00106708" "1" "02052" "02052" "2009-04-17 13:58:12" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107180" "00106709" "1" "02052" "02052" "2009-04-17 13:58:12" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107181" "00106710" "1" "02052" "02052" "2009-04-17 13:58:12" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107182" "00106711" "1" "02052" "02052" "2009-04-17 13:58:12" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107183" "00106712" "1" "02052" "02052" "2009-04-17 13:58:12" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107184" "00106713" "1" "02052" "02052" "2009-04-17 13:58:12" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107185" "00106714" "1" "02052" "02052" "2009-04-17 13:58:12" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107186" "00106715" "1" "02052" "02052" "2009-04-17 13:58:12" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000107187" "00106716" "1" "02052" "02052" "2009-04-17 13:58:12" "00004" "2011-06-30 15:42:50" "PCR" "DNA" "" "" "0000227334" "00226267" "1" "02547" "02547" "2019-03-06 13:00:05" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000227339" "00226272" "1" "02547" "02547" "2019-03-06 13:48:16" "" "" "PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000227340" "00226273" "1" "02547" "02547" "2019-03-06 14:29:50" "" "" "PCR;SEQ" "DNA" "" "" "0000227342" "00226275" "1" "02547" "02547" "2019-03-06 14:54:25" "" "" "PCR" "DNA" "" "" "0000227343" "00226276" "1" "02547" "02547" "2019-03-06 15:41:32" "" "" "PCR;SEQ" "DNA;RNA" "" "" "0000227344" "00226277" "1" "02547" "02547" "2019-03-06 16:08:55" "" "" "PCR;SEQ" "DNA" "" "" "0000227345" "00226278" "1" "02547" "02547" "2019-03-06 16:33:30" "" "" "PCR;SEQ" "DNA" "" "" "0000227346" "00226279" "1" "02547" "02547" "2019-03-06 16:57:15" "" "" "PCR;SEQ" "DNA" "" "" "0000236450" "00235345" "1" "02547" "02547" "2019-05-23 15:09:08" "" "" "PCR;SEQ-NG-I" "DNA" "" "" "0000333784" "00332560" "1" "02547" "02547" "2021-02-22 17:45:31" "02547" "2021-02-23 08:49:34" "PCRh;SEQ;SEQ-NG-I" "DNA" "" "" "0000334714" "00333489" "1" "02547" "02547" "2021-02-25 18:20:32" "" "" "SEQ" "DNA" "" "" "0000378347" "00377141" "1" "02547" "02547" "2021-07-08 13:42:19" "" "" "SEQ-NG" "DNA" "" "whole exome sequencing (WES)" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 49 "{{screeningid}}" "{{geneid}}" "0000107176" "SCNN1B" "0000107177" "SCNN1B" "0000107178" "SCNN1B" "0000107179" "SCNN1B" "0000107180" "SCNN1B" "0000107181" "SCNN1B" "0000107182" "SCNN1B" "0000107183" "SCNN1B" "0000107184" "SCNN1B" "0000107185" "SCNN1B" "0000107186" "SCNN1B" "0000107187" "SCNN1B" "0000227334" "SCNN1A" "0000227334" "SCNN1B" "0000227334" "SCNN1G" "0000227339" "SCNN1A" "0000227339" "SCNN1B" "0000227339" "SCNN1G" "0000227340" "SCNN1A" "0000227340" "SCNN1B" "0000227340" "SCNN1G" "0000227342" "SCNN1A" "0000227342" "SCNN1B" "0000227342" "SCNN1G" "0000227343" "SCNN1A" "0000227343" "SCNN1B" "0000227343" "SCNN1G" "0000227344" "SCNN1A" "0000227344" "SCNN1B" "0000227344" "SCNN1G" "0000227345" "SCNN1A" "0000227345" "SCNN1B" "0000227345" "SCNN1G" "0000227346" "SCNN1A" "0000227346" "SCNN1B" "0000227346" "SCNN1G" "0000236450" "SCNN1A" "0000236450" "SCNN1B" "0000333784" "CYP21A2" "0000333784" "SCNN1A" "0000333784" "SCNN1B" "0000333784" "SCNN1G" "0000334714" "NR3C2" "0000334714" "SCNN1A" "0000334714" "SCNN1B" "0000334714" "SCNN1G" "0000378347" "SCNN1A" "0000378347" "SCNN1B" "0000378347" "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 = 68 "{{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" "" "0000172945" "0" "55" "16" "23360165" "23360165" "subst" "0.00477968" "02052" "SCNN1B_000001" "g.23360165C>G" "0.009" "{PMID:19462466:Azad 2009}" "" "" "" "Unknown" "" "rs35731153" "0" "" "" "g.23348844C>G" "" "VUS" "" "0000172946" "0" "55" "16" "23360199" "23360199" "subst" "0.619283" "02052" "SCNN1B_000002" "g.23360199T>C" "0.517" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "Unknown" "" "rs238547" "0" "" "" "g.23348878T>C" "" "VUS" "" "0000172947" "0" "55" "16" "23379172" "23379172" "subst" "0.00412163" "02052" "SCNN1B_000003" "g.23379172T>C" "" "{PMID:19462466:Azad 2009}" "" "" "" "Unknown" "" "rs61759915" "0" "" "" "g.23367851T>C" "" "VUS" "" "0000172948" "0" "55" "16" "23379279" "23379279" "subst" "0.0562608" "02052" "SCNN1B_000004" "g.23379279C>T" "0.067" "{PMID:Mutesa 2008:19017867}; {PMID:19462466:Azad 2009}" "" "" "" "Unknown" "" "rs250563" "0" "" "" "g.23367958C>T" "" "VUS" "" "0000172949" "0" "55" "16" "23382781" "23382781" "subst" "6.51153E-5" "02052" "SCNN1B_000005" "g.23382781G>A" "" "{PMID:Mutesa 2008:19017867}" "" "" "" "Unknown" "" "rs61759921" "0" "" "" "g.23371460G>A" "" "VUS" "" "0000172950" "0" "55" "16" "23388540" "23388540" "subst" "0.0095743" "02052" "SCNN1B_000006" "g.23388540G>T" "" "{PMID:Mutesa 2008:19017867}" "" "" "" "Unknown" "" "rs16940050" "0" "" "" "g.23377219G>T" "" "VUS" "" "0000172951" "0" "55" "16" "23388589" "23388589" "subst" "0.00121059" "02052" "SCNN1B_000007" "g.23388589C>T" "" "{PMID:Mutesa 2008:19017867}" "" "" "" "Unknown" "" "rs61759922" "0" "" "" "g.23377268C>T" "" "VUS" "" "0000172952" "0" "55" "16" "23391744" "23391744" "subst" "0.00132482" "02052" "SCNN1B_000008" "g.23391744C>T" "" "{PMID:19462466:Azad 2009}" "" "" "" "Unknown" "" "rs61759916" "0" "" "" "g.23380423C>T" "" "VUS" "" "0000172953" "0" "55" "16" "23391930" "23391930" "subst" "0.000472748" "02052" "SCNN1B_000009" "g.23391930C>T" "" "{PMID:Mutesa 2008:19017867}" "" "" "" "Unknown" "" "rs61759923" "0" "" "" "g.23380609C>T" "" "VUS" "" "0000172954" "0" "55" "16" "23391964" "23391964" "subst" "0.00194237" "02052" "SCNN1B_000010" "g.23391964G>A" "" "{PMID:19462466:Azad 2009}" "" "" "" "Unknown" "" "rs61759926" "0" "" "" "g.23380643G>A" "" "VUS" "" "0000172955" "0" "55" "16" "23391980" "23391980" "subst" "0.00207073" "02052" "SCNN1B_000011" "g.23391980C>T" "" "{PMID:19462466:Azad 2009}" "" "" "" "Unknown" "" "rs1799979" "0" "" "" "g.23380659C>T" "" "VUS" "" "0000172956" "0" "55" "16" "23392086" "23392086" "subst" "0.000862496" "02052" "SCNN1B_000012" "g.23392086C>T" "" "{PMID:19462466:Azad 2009}" "" "" "" "Unknown" "" "rs61759917" "0" "" "" "g.23380765C>T" "" "VUS" "" "0000298035" "0" "10" "16" "23360199" "23360199" "subst" "0.619283" "02325" "SCNN1B_000002" "g.23360199T>C" "" "" "" "SCNN1B(NM_000336.3):c.279T>C (p.P93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23348878T>C" "" "benign" "" "0000301988" "0" "10" "16" "23391401" "23391401" "subst" "0.0378024" "02326" "SCNN1B_000014" "g.23391401G>A" "" "" "" "SCNN1B(NM_000336.3):c.1467-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23380080G>A" "" "benign" "" "0000301989" "0" "10" "16" "23379135" "23379135" "subst" "0.0230815" "02326" "SCNN1B_000013" "g.23379135C>T" "" "" "" "SCNN1B(NM_000336.3):c.777-42C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23367814C>T" "" "benign" "" "0000337565" "0" "10" "16" "23391401" "23391401" "subst" "0.0378024" "02327" "SCNN1B_000014" "g.23391401G>A" "" "" "" "SCNN1B(NM_000336.3):c.1467-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23380080G>A" "" "benign" "" "0000339708" "0" "10" "16" "23360199" "23360199" "subst" "0.619283" "02327" "SCNN1B_000002" "g.23360199T>C" "" "" "" "SCNN1B(NM_000336.3):c.279T>C (p.P93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23348878T>C" "" "benign" "" "0000339711" "0" "10" "16" "23379279" "23379279" "subst" "0.0562608" "02327" "SCNN1B_000004" "g.23379279C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23367958C>T" "" "benign" "" "0000346178" "0" "30" "16" "23391964" "23391964" "subst" "0.00194237" "02327" "SCNN1B_000010" "g.23391964G>A" "" "" "" "SCNN1B(NM_000336.3):c.1765G>A (p.G589S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23380643G>A" "" "likely benign" "" "0000347262" "0" "30" "16" "23392082" "23392082" "subst" "0.000412439" "02327" "SCNN1B_000018" "g.23392082T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23380761T>A" "" "likely benign" "" "0000348523" "0" "90" "16" "23392046" "23392046" "subst" "0" "02327" "SCNN1B_000016" "g.23392046C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23380725C>T" "" "pathogenic" "" "0000348524" "0" "90" "16" "23392052" "23392052" "subst" "0" "02327" "SCNN1B_000017" "g.23392052C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23380731C>A" "" "pathogenic" "" "0000349187" "0" "30" "16" "23360165" "23360165" "subst" "0.00477968" "02327" "SCNN1B_000001" "g.23360165C>G" "" "" "" "SCNN1B(NM_000336.3):c.245C>G (p.S82C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23348844C>G" "" "likely benign" "" "0000349759" "0" "90" "16" "23360004" "23360004" "subst" "0" "02327" "SCNN1B_000015" "g.23360004G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23348683G>A" "" "pathogenic" "" "0000465555" "3" "90" "16" "23360029" "23360029" "subst" "2.43948E-5" "02547" "SCNN1B_000021" "g.23360029G>A" "" "{PMID:Chang (1996):8589714}" "" "" "" "Germline" "yes" "rs137852706" "0" "" "" "g.23348708G>A" "{CV-RCV:000009380}, {CV:8832}" "pathogenic (recessive)" "" "0000465559" "0" "90" "16" "23364330" "23364331" "ins" "0" "02547" "SCNN1B_000022" "g.23364330_23364331insA" "" "{PMID:Kerem (1999):10403853}" "" "" "" "Germline" "yes" "" "0" "" "" "g.23353009_23353010insA" "" "pathogenic (recessive)" "" "0000465560" "0" "90" "16" "23379189" "23379189" "del" "0" "02547" "SCNN1B_000023" "g.23379189del" "" "{PMID:Kerem (1999):10403853}" "" "" "" "Germline" "yes" "" "0" "" "" "g.23367868del" "" "pathogenic (recessive)" "" "0000465562" "3" "90" "16" "23366671" "23366671" "subst" "0" "02547" "SCNN1B_000020" "g.23366671C>T" "" "{PMID:Belot (2008):18424465}" "" "" "" "Germline" "yes" "" "0" "" "" "g.23355350C>T" "" "pathogenic (recessive)" "" "0000465564" "11" "90" "16" "23366682" "23366682" "dup" "0" "02547" "SCNN1B_000019" "g.23366682dup" "" "{PMID:Edelheit (2010):20064610}" "" "" "" "Germline" "yes" "rs747116196" "0" "" "" "g.23355361dup" "" "pathogenic (recessive)" "" "0000465565" "21" "90" "16" "23382654" "23382654" "del" "4.06415E-6" "02547" "SCNN1B_000027" "g.23382654del" "" "{PMID:Edelheit (2010):20064610}" "" "" "" "Germline" "yes" "rs1275275977" "0" "" "" "g.23371333del" "" "pathogenic (recessive)" "" "0000465566" "3" "90" "16" "23388485" "23388485" "subst" "0" "02547" "SCNN1B_000026" "g.23388485G>C" "" "{PMID:Dogan (2012):23426840}" "" "" "" "Germline" "yes" "" "0" "" "" "g.23377164G>C" "" "pathogenic (recessive)" "" "0000465567" "0" "90" "16" "23388503" "23388503" "del" "0" "02547" "SCNN1B_000028" "g.23388503del" "" "{PMID:Nobel (2016):26807262}" "" "" "" "Germline" "yes" "" "0" "" "" "g.23377182del" "" "pathogenic (recessive)" "" "0000465568" "0" "90" "16" "23390089" "23390089" "subst" "4.062E-6" "02547" "SCNN1B_000025" "g.23390089G>A" "" "{PMID:Nobel (2016):26807262}" "" "" "" "Germline" "yes" "rs1290855631" "0" "" "" "g.23378768G>A" "" "pathogenic (recessive)" "" "0000465569" "3" "90" "16" "23391491" "23391491" "subst" "1.21821E-5" "02547" "SCNN1B_000024" "g.23391491G>A" "" "{PMID:Saxena (2002):12107247}" "" "" "" "Germline" "yes" "rs550424284" "0" "" "" "g.23380170G>A" "{CV:870735}" "pathogenic (recessive)" "" "0000465571" "0" "90" "16" "23391491" "23391491" "subst" "1.21821E-5" "02547" "SCNN1B_000024" "g.23391491G>A" "" "{PMID:Saxena (2002):12107247}" "" "" "" "Germline" "yes" "rs550424284" "0" "" "" "g.23380170G>A" "{CV:870735}" "pathogenic (recessive)" "" "0000480161" "21" "90" "16" "23360007" "23360007" "subst" "0" "02547" "SCNN1B_000029" "g.23360007C>A" "" "{PMID:Cayir (2019):31018202}" "" "" "" "Germline" "yes" "" "0" "" "" "g.23348686C>A" "" "pathogenic (recessive)" "" "0000480162" "11" "90" "16" "23388562" "23388562" "subst" "0" "02547" "SCNN1B_000030" "g.23388562G>A" "" "{PMID:Cayir (2019):31018202}" "" "" "" "Germline" "yes" "" "0" "" "" "g.23377241G>A" "" "pathogenic (recessive)" "" "0000557527" "0" "10" "16" "23391725" "23391725" "subst" "0.00649049" "02327" "SCNN1B_000031" "g.23391725C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23380404C>T" "" "benign" "" "0000680481" "0" "30" "16" "23391744" "23391744" "subst" "0.00132482" "02326" "SCNN1B_000008" "g.23391744C>T" "" "" "" "SCNN1B(NM_000336.3):c.1545C>T (p.I515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691999" "0" "30" "16" "23359926" "23359926" "subst" "0.000155363" "01943" "SCNN1B_000032" "g.23359926C>T" "" "" "" "SCNN1B(NM_000336.2):c.6C>T (p.H2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725657" "0" "30" "16" "23387190" "23387190" "subst" "0.000386125" "02326" "SCNN1B_000033" "g.23387190C>T" "" "" "" "SCNN1B(NM_000336.3):c.1270+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000731591" "3" "90" "16" "23387151" "23387151" "dup" "0" "02547" "SCNN1B_000034" "g.23387151dup" "" "{PMID:Seyhanli 2020:32351772}" "" "1245_1246insC" "" "Germline" "yes" "" "0" "" "" "g.23375830dup" "" "pathogenic (recessive)" "" "0000732713" "0" "90" "16" "23391491" "23391491" "subst" "1.21821E-5" "02547" "SCNN1B_000024" "g.23391491G>A" "" "{PMID:Gopal-Kothandapani, 2019:31301676}" "" "" "" "Germline" "yes" "rs550424284" "" "" "" "g.23380170G>A" "870735" "pathogenic (recessive)" "" "0000791082" "3" "90" "16" "23391835" "23391835" "subst" "2.03032E-5" "02547" "SCNN1B_000035" "g.23391835G>A" "" "{PMID:Abdalla 2021:34165441}" "" "" "" "Germline" "yes" "rs112069765" "0" "" "" "g.23380514G>A" "" "pathogenic" "" "0000807238" "0" "30" "16" "23360165" "23360165" "subst" "0.00477968" "02326" "SCNN1B_000001" "g.23360165C>G" "" "" "" "SCNN1B(NM_000336.3):c.245C>G (p.S82C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807240" "0" "50" "16" "23383157" "23383157" "subst" "3.6545E-5" "01943" "SCNN1B_000036" "g.23383157C>A" "" "" "" "SCNN1B(NM_000336.2):c.1105C>A (p.P369T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807241" "0" "30" "16" "23388528" "23388528" "subst" "1.62459E-5" "02327" "SCNN1B_000037" "g.23388528A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807242" "0" "90" "16" "23392048" "23392048" "subst" "0" "02327" "SCNN1B_000038" "g.23392048C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854403" "0" "10" "16" "23387068" "23387068" "subst" "0.0026272" "02326" "SCNN1B_000039" "g.23387068C>T" "" "" "" "SCNN1B(NM_000336.3):c.1162C>T (p.R388C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854404" "0" "30" "16" "23391744" "23391744" "subst" "0.00132482" "02327" "SCNN1B_000008" "g.23391744C>T" "" "" "" "SCNN1B(NM_000336.3):c.1545C>T (p.I515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864676" "0" "30" "16" "23391981" "23391981" "subst" "0.00141667" "02326" "SCNN1B_000040" "g.23391981G>A" "" "" "" "SCNN1B(NM_000336.3):c.1782G>A (p.T594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864677" "0" "50" "16" "23392069" "23392069" "subst" "7.84916E-5" "02326" "SCNN1B_000041" "g.23392069C>T" "" "" "" "SCNN1B(NM_000336.3):c.1870C>T (p.R624C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892809" "0" "30" "16" "23364276" "23364276" "subst" "0.00112077" "02326" "SCNN1B_000042" "g.23364276C>T" "" "" "" "SCNN1B(NM_000336.3):c.466C>T (p.R156W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892810" "0" "30" "16" "23382744" "23382744" "subst" "6.09444E-5" "02326" "SCNN1B_000043" "g.23382744C>T" "" "" "" "SCNN1B(NM_000336.3):c.1005C>T (p.Y335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892811" "0" "30" "16" "23391905" "23391905" "subst" "0.00070726" "02326" "SCNN1B_000044" "g.23391905C>T" "" "" "" "SCNN1B(NM_000336.3):c.1706C>T (p.A569V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892812" "0" "30" "16" "23391930" "23391930" "subst" "0.000472748" "02326" "SCNN1B_000009" "g.23391930C>T" "" "" "" "SCNN1B(NM_000336.3):c.1731C>T (p.T577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892813" "0" "30" "16" "23391964" "23391964" "subst" "0.00194237" "02326" "SCNN1B_000010" "g.23391964G>A" "" "" "" "SCNN1B(NM_000336.3):c.1765G>A (p.G589S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892814" "0" "30" "16" "23392086" "23392086" "subst" "0.000862496" "02326" "SCNN1B_000012" "g.23392086C>T" "" "" "" "SCNN1B(NM_000336.3):c.1887C>T (p.D629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926212" "0" "30" "16" "23387135" "23387135" "subst" "0.000121822" "02326" "SCNN1B_000045" "g.23387135G>A" "" "" "" "SCNN1B(NM_000336.3):c.1229G>A (p.R410H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950589" "0" "30" "16" "23392092" "23392092" "subst" "5.77949E-5" "02326" "SCNN1B_000046" "g.23392092C>T" "" "" "" "SCNN1B(NM_000336.3):c.1893C>T (p.I631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968256" "0" "30" "16" "23391507" "23391507" "subst" "1.21823E-5" "02327" "SCNN1B_000047" "g.23391507C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968257" "0" "90" "16" "23391895" "23391895" "subst" "0" "02327" "SCNN1B_000048" "g.23391895C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981779" "0" "30" "16" "23360202" "23360202" "subst" "0.00132865" "02326" "SCNN1B_000049" "g.23360202C>T" "" "" "" "SCNN1B(NM_000336.3):c.282C>T (p.A94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981780" "0" "50" "16" "23383160" "23383160" "subst" "1.62422E-5" "01804" "SCNN1B_000050" "g.23383160G>A" "" "" "" "SCNN1B(NM_000336.3):c.1108G>A (p.(Val370Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002088" "0" "30" "16" "23390057" "23390057" "subst" "2.84278E-5" "01804" "SCNN1B_000051" "g.23390057C>T" "" "" "" "SCNN1B(NM_000336.2):c.1435C>T (p.(Arg479Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002089" "0" "30" "16" "23392087" "23392087" "subst" "0.000231185" "01804" "SCNN1B_000052" "g.23392087G>A" "" "" "" "SCNN1B(NM_000336.2):c.1888G>A (p.(Val630Ile)), SCNN1B(NM_000336.3):c.1888G>A (p.V630I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026648" "0" "30" "16" "23392087" "23392087" "subst" "0.000231185" "02326" "SCNN1B_000052" "g.23392087G>A" "" "" "" "SCNN1B(NM_000336.2):c.1888G>A (p.(Val630Ile)), SCNN1B(NM_000336.3):c.1888G>A (p.V630I)" "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 SCNN1B ## Count = 68 "{{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" "00018530" "00" "-1783560" "0" "5942046" "0" "c.-1783560_*5940123del" "r.0?" "p.0?" "" "0000172945" "00018530" "55" "245" "0" "245" "0" "c.245C>G" "r.(?)" "p.(Ser82Cys)" "2" "0000172946" "00018530" "55" "279" "0" "279" "0" "c.279T>C" "r.(?)" "p.(=)" "2" "0000172947" "00018530" "55" "777" "-5" "777" "-5" "c.777-5T>C" "r.(?)" "p.(?)" "4i" "0000172948" "00018530" "55" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(=)" "5" "0000172949" "00018530" "55" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Val348Met)" "6" "0000172950" "00018530" "55" "1325" "0" "1325" "0" "c.1325G>T" "r.(?)" "p.(Gly442Val)" "9" "0000172951" "00018530" "55" "1346" "28" "1346" "28" "c.1346+28C>T" "r.(?)" "p.(?)" "9i" "0000172952" "00018530" "55" "1545" "0" "1545" "0" "c.1545C>T" "r.(?)" "p.(=)" "13" "0000172953" "00018530" "55" "1731" "0" "1731" "0" "c.1731C>T" "r.(?)" "p.(=)" "13" "0000172954" "00018530" "55" "1765" "0" "1765" "0" "c.1765G>A" "r.(?)" "p.(Gly589Ser)" "13" "0000172955" "00018530" "55" "1781" "0" "1781" "0" "c.1781C>T" "r.(?)" "p.(Thr594Met)" "13" "0000172956" "00018530" "55" "1887" "0" "1887" "0" "c.1887C>T" "r.(?)" "p.(=)" "13" "0000298035" "00018530" "10" "279" "0" "279" "0" "c.279T>C" "r.(?)" "p.(Pro93=)" "" "0000301988" "00018530" "10" "1467" "-14" "1467" "-14" "c.1467-14G>A" "r.(=)" "p.(=)" "" "0000301989" "00018530" "10" "777" "-42" "777" "-42" "c.777-42C>T" "r.(=)" "p.(=)" "" "0000337565" "00018530" "10" "1467" "-14" "1467" "-14" "c.1467-14G>A" "r.(=)" "p.(=)" "" "0000339708" "00018530" "10" "279" "0" "279" "0" "c.279T>C" "r.(?)" "p.(Pro93=)" "" "0000339711" "00018530" "10" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(Phe293=)" "" "0000346178" "00018530" "30" "1765" "0" "1765" "0" "c.1765G>A" "r.(?)" "p.(Gly589Ser)" "" "0000347262" "00018530" "30" "1883" "0" "1883" "0" "c.1883T>A" "r.(?)" "p.(Leu628Gln)" "" "0000348523" "00018530" "90" "1847" "0" "1847" "0" "c.1847C>T" "r.(?)" "p.(Pro616Leu)" "" "0000348524" "00018530" "90" "1853" "0" "1853" "0" "c.1853C>A" "r.(?)" "p.(Pro618His)" "" "0000349187" "00018530" "30" "245" "0" "245" "0" "c.245C>G" "r.(?)" "p.(Ser82Cys)" "" "0000349759" "00018530" "90" "84" "0" "84" "0" "c.84G>A" "r.(?)" "p.(Trp28Ter)" "" "0000465555" "00018530" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Ser)" "2" "0000465559" "00018530" "90" "520" "0" "521" "0" "c.520_521insA" "r.(?)" "p.(Leu174Tyrfs*12)" "3" "0000465560" "00018530" "90" "789" "0" "789" "0" "c.789del" "r.(?)" "p.(Ile264Serfs*16)" "5" "0000465562" "00018530" "90" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Gln213*)" "4" "0000465564" "00018530" "90" "648" "0" "648" "0" "c.648dup" "r.(?)" "p.(Glu217Argfs*38)" "4" "0000465565" "00018530" "90" "915" "0" "915" "0" "c.915del" "r.(?)" "p.(Tyr306Thrfs*13)" "6" "0000465566" "00018530" "90" "1271" "-1" "1271" "-1" "c.1271-1G>C" "r.spl" "p.?" "" "0000465567" "00018530" "90" "1288" "0" "1288" "0" "c.1288del" "r.(?)" "p.(Leu430Tyrfs*3)" "9" "0000465568" "00018530" "90" "1466" "1" "1466" "1" "c.1466+1G>A" "r.spl" "p.?" "" "0000465569" "00018530" "90" "1542" "1" "1542" "1" "c.1542+1G>A" "r.spl" "p.?" "" "0000465571" "00018530" "90" "1542" "1" "1542" "1" "c.1542+1G>A" "r.spl" "p.?" "" "0000480161" "00018530" "90" "87" "0" "87" "0" "c.87C>A" "r.(?)" "p.(Tyr29*)" "2" "0000480162" "00018530" "90" "1346" "1" "1346" "1" "c.1346+1G>A" "r.spl" "p.?" "" "0000557527" "00018530" "10" "1543" "-17" "1543" "-17" "c.1543-17C>T" "r.(=)" "p.(=)" "" "0000680481" "00018530" "30" "1545" "0" "1545" "0" "c.1545C>T" "r.(?)" "p.(Ile515=)" "" "0000691999" "00018530" "30" "6" "0" "6" "0" "c.6C>T" "r.(?)" "p.(His2=)" "" "0000725657" "00018530" "30" "1270" "14" "1270" "14" "c.1270+14C>T" "r.(=)" "p.(=)" "" "0000731591" "00018530" "90" "1245" "0" "1245" "0" "c.1245dup" "r.(?)" "p.(Asn416Glnfs*35)" "8" "0000732713" "00018530" "90" "1542" "1" "1542" "1" "c.1542+1G>A" "r.spl" "p.?" "" "0000791082" "00018530" "90" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Asp546Asn)" "13" "0000807238" "00018530" "30" "245" "0" "245" "0" "c.245C>G" "r.(?)" "p.(Ser82Cys)" "" "0000807240" "00018530" "50" "1105" "0" "1105" "0" "c.1105C>A" "r.(?)" "p.(Pro369Thr)" "" "0000807241" "00018530" "30" "1313" "0" "1313" "0" "c.1313A>G" "r.(?)" "p.(Glu438Gly)" "" "0000807242" "00018530" "90" "1849" "0" "1849" "0" "c.1849C>T" "r.(?)" "p.(Pro617Ser)" "" "0000854403" "00018530" "10" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388Cys)" "" "0000854404" "00018530" "30" "1545" "0" "1545" "0" "c.1545C>T" "r.(?)" "p.(Ile515=)" "" "0000864676" "00018530" "30" "1782" "0" "1782" "0" "c.1782G>A" "r.(?)" "p.(Thr594=)" "" "0000864677" "00018530" "50" "1870" "0" "1870" "0" "c.1870C>T" "r.(?)" "p.(Arg624Cys)" "" "0000892809" "00018530" "30" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156Trp)" "" "0000892810" "00018530" "30" "1005" "0" "1005" "0" "c.1005C>T" "r.(?)" "p.(Tyr335=)" "" "0000892811" "00018530" "30" "1706" "0" "1706" "0" "c.1706C>T" "r.(?)" "p.(Ala569Val)" "" "0000892812" "00018530" "30" "1731" "0" "1731" "0" "c.1731C>T" "r.(?)" "p.(Thr577=)" "" "0000892813" "00018530" "30" "1765" "0" "1765" "0" "c.1765G>A" "r.(?)" "p.(Gly589Ser)" "" "0000892814" "00018530" "30" "1887" "0" "1887" "0" "c.1887C>T" "r.(?)" "p.(Asp629=)" "" "0000926212" "00018530" "30" "1229" "0" "1229" "0" "c.1229G>A" "r.(?)" "p.(Arg410His)" "" "0000950589" "00018530" "30" "1893" "0" "1893" "0" "c.1893C>T" "r.(?)" "p.(=)" "" "0000968256" "00018530" "30" "1542" "17" "1542" "17" "c.1542+17C>T" "r.(=)" "p.(=)" "" "0000968257" "00018530" "90" "1696" "0" "1696" "0" "c.1696C>T" "r.(?)" "p.(Arg566*)" "" "0000981779" "00018530" "30" "282" "0" "282" "0" "c.282C>T" "r.(?)" "p.(=)" "" "0000981780" "00018530" "50" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Val370Ile)" "" "0001002088" "00018530" "30" "1435" "0" "1435" "0" "c.1435C>T" "r.(?)" "p.(Arg479Trp)" "" "0001002089" "00018530" "30" "1888" "0" "1888" "0" "c.1888G>A" "r.(?)" "p.(Val630Ile)" "" "0001026648" "00018530" "30" "1888" "0" "1888" "0" "c.1888G>A" "r.(?)" "p.(Val630Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000050403" "0000079383" "0000107176" "0000172945" "0000107177" "0000172946" "0000107178" "0000172947" "0000107179" "0000172948" "0000107180" "0000172949" "0000107181" "0000172950" "0000107182" "0000172951" "0000107183" "0000172952" "0000107184" "0000172953" "0000107185" "0000172954" "0000107186" "0000172955" "0000107187" "0000172956" "0000227334" "0000465555" "0000227339" "0000465559" "0000227339" "0000465560" "0000227340" "0000465562" "0000227342" "0000465564" "0000227342" "0000465565" "0000227343" "0000465566" "0000227344" "0000465567" "0000227344" "0000465568" "0000227345" "0000465569" "0000227346" "0000465571" "0000236450" "0000480161" "0000236450" "0000480162" "0000333784" "0000731591" "0000334714" "0000732713" "0000378347" "0000791082"