### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CYP11B1) # 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}}" "CYP11B1" "cytochrome P450, family 11, subfamily B, polypeptide 1" "8" "q21-q22" "unknown" "NG_007954.1" "UD_132118713666" "" "https://www.LOVD.nl/CYP11B1" "" "1" "2591" "1584" "610613" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CYP11B1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-07-20 08:46:39" "00000" "2025-11-01 13:22:20" ## 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}}" "00006038" "CYP11B1" "transcript variant 1" "002" "NM_000497.3" "" "NP_000488.3" "" "" "" "-7" "3528" "1512" "143961236" "143953773" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01168" "HALD1;GRA" "hyperaldosteronism, glucocorticoid-remediable (HALD1)" "AD" "103900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01629" "adrenal hyperplasia" "adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency" "AR" "201910" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-07-09 16:56:01" "01630" "adrenal hyperplasia" "adrenal hyperplasia, steroid 11-beta-monooxygenase deficiency" "AR" "202010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-10-31 12:57:06" "07052" "adrenal hyperplasia" "adrenal hyperplasia" "" "" "" "" "" "00006" "2023-12-24 11:17:16" "00006" "2025-10-31 12:56:23" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CYP11B1" "01168" "CYP11B1" "01630" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00294581" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306716" "" "" "" "1" "" "01482" "" "" "" "" "" "" "0" "" "" "" "" "00306718" "" "" "" "1" "" "01482" "" "" "" "" "" "" "0" "" "" "" "" "00306720" "" "" "" "1" "" "01482" "" "" "M" "no" "China" "" "0" "" "" "" "" "00306721" "" "" "" "1" "" "01482" "" "" "F" "no" "China" "" "0" "" "" "" "" "00444420" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat32" "00444421" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat33" "00444422" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat34" "00444423" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat35" "00444424" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat36" "00444425" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat37" "00444426" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat38" "00444427" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat39" "00444428" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat40" "00444429" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat41" "00444430" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat42" "00444431" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat43" "00465867" "" "" "" "1" "" "01298" "" "" "M" "" "Greece" "" "" "" "" "" "" "00467810" "" "" "" "1" "" "00006" "{PMID:Janot 2025:40819900}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Algeria" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00294581" "00198" "00306716" "01629" "00306718" "01629" "00306720" "01629" "00306721" "01629" "00444420" "07052" "00444421" "07052" "00444422" "07052" "00444423" "07052" "00444424" "07052" "00444425" "07052" "00444426" "07052" "00444427" "07052" "00444428" "07052" "00444429" "07052" "00444430" "07052" "00444431" "07052" "00465867" "01630" "00467810" "01630" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01168, 01629, 01630, 07052 ## Count = 14 "{{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}}" "0000232564" "01629" "00306721" "01482" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333673" "07052" "00444420" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; large penis; advanced bone age; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP" "8m" "" "" "" "" "" "" "" "" "childhood-onset primary adrenal insufficiency" "" "0000333674" "07052" "00444421" "00006" "Familial, autosomal recessive" "" "clitoral hypertrophy; hypertension; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "1d" "" "" "" "" "" "" "" "" "childhood-onset primary adrenal insufficiency" "" "0000333675" "07052" "00444422" "00006" "Familial, autosomal recessive" "" "clitoral hypertrophy; vomiting; diarrhea; hypertension; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP" "15d" "" "" "" "" "" "" "" "" "childhood-onset primary adrenal insufficiency" "" "0000333676" "07052" "00444423" "00006" "Familial, autosomal recessive" "" "clitoral hypertrophy; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP" "1m" "" "" "" "" "" "" "" "" "childhood-onset primary adrenal insufficiency" "" "0000333677" "07052" "00444424" "00006" "Familial, autosomal recessive" "" "hypertension; central precocious puberty; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP" "4y" "" "" "" "" "" "" "" "" "childhood-onset primary adrenal insufficiency" "" "0000333678" "07052" "00444425" "00006" "Familial, autosomal recessive" "" "hypertension; large penis; advanced bone age; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP" "1d" "" "" "" "" "" "" "" "" "childhood-onset primary adrenal insufficiency" "" "0000333679" "07052" "00444426" "00006" "Familial, autosomal recessive" "" "clitoral hypertrophy; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "18m" "" "" "" "" "" "" "" "" "childhood-onset primary adrenal insufficiency" "" "0000333680" "07052" "00444427" "00006" "Familial, autosomal recessive" "" "hypertension; hyperpigmentation; clitoral hypertrophy ; weight loss; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP" "1d" "" "" "" "" "" "" "" "" "childhood-onset primary adrenal insufficiency" "" "0000333681" "07052" "00444428" "00006" "Familial, autosomal recessive" "" "clitoral hypertrophy; advanced bone age; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP" "1d" "" "" "" "" "" "" "" "" "childhood-onset primary adrenal insufficiency" "" "0000333682" "07052" "00444429" "00006" "Familial, autosomal recessive" "" "hypertension; large penis; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "5y4m" "" "" "" "" "" "" "" "" "childhood-onset primary adrenal insufficiency" "" "0000333683" "07052" "00444430" "00006" "Familial, autosomal recessive" "" "clitoral hypertrophy; hyperpigmentation; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP" "1d" "" "" "" "" "" "" "" "" "childhood-onset primary adrenal insufficiency" "" "0000333684" "07052" "00444431" "00006" "Familial, autosomal recessive" "" "clitoral hypertrophy; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP" "1d" "" "" "" "" "" "" "" "" "childhood-onset primary adrenal insufficiency" "" "0000352963" "01630" "00467810" "00006" "Familial, autosomal recessive" "" "see paper; ..., differences of sex development; 3y-genitalia Prader stage 4,3.5 cm genital bud, no palpable gonads, single perineal orifice" "" "" "differences of sex development" "" "" "" "" "" "" "congenital adrenal hyperplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000295749" "00294581" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307851" "00306716" "1" "01482" "01482" "2020-07-16 05:15:12" "" "" "PCRq;SEQ;SEQ-NG" "DNA" "" "" "0000307852" "00306718" "1" "01482" "01482" "2020-07-16 06:58:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000307853" "00306720" "1" "01482" "01482" "2020-07-16 10:33:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000307854" "00306721" "1" "01482" "01482" "2020-07-16 10:57:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000445988" "00444420" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445989" "00444421" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445990" "00444422" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445991" "00444423" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000445992" "00444424" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000445993" "00444425" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445994" "00444426" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000445995" "00444427" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000445996" "00444428" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000445997" "00444429" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000445998" "00444430" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445999" "00444431" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000467519" "00465867" "1" "01298" "01298" "2025-06-12 11:01:28" "" "" "SEQ" "DNA" "" "" "0000469476" "00467810" "1" "00006" "00006" "2025-10-31 13:05:09" "" "" "SBE;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{geneid}}" "0000307851" "ABCD1" "0000307851" "AIRE" "0000307851" "ARMC5" "0000307851" "CYP11B1" "0000307851" "CYP11B2" "0000307851" "CYP17A1" "0000307851" "CYP21A2" "0000307851" "SF1" "0000307852" "ABCD1" "0000307852" "CYP11B1" "0000307852" "CYP11B2" "0000307852" "CYP17A1" "0000307852" "CYP20A1" "0000307852" "SF1" "0000307853" "ABCD1" "0000307853" "AIRE" "0000307853" "CYP11B1" "0000307853" "CYP17A1" "0000307853" "CYP20A1" "0000307854" "CYP11B1" "0000307854" "CYP11B2" "0000307854" "CYP17A1" "0000307854" "CYP1A1" "0000307854" "CYP21A2" "0000445988" "CYP11B1" "0000445989" "CYP11B1" "0000445990" "CYP11B1" "0000445991" "CYP11B1" "0000445992" "CYP11B1" "0000445993" "CYP11B1" "0000445994" "CYP11B1" "0000445995" "CYP11B1" "0000445996" "CYP11B1" "0000445997" "CYP11B1" "0000445998" "CYP11B1" "0000445999" "CYP11B1" "0000467519" "CYP11B1" "0000469476" "CYP11B1" ## 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 = 93 "{{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}}" "0000249125" "0" "10" "8" "143956808" "143956808" "subst" "0" "02325" "CYP11B1_000002" "g.143956808A>C" "" "" "" "CYP11B1(NM_000497.4):c.1122-80T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142875392A>C" "" "benign" "" "0000267228" "0" "10" "8" "143961005" "143961005" "subst" "0.580302" "02325" "CYP11B1_000006" "g.143961005T>C" "" "" "" "CYP11B1(NM_000497.4):c.225A>G (p.L75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142879589T>C" "" "benign" "" "0000267229" "0" "10" "8" "143960597" "143960597" "subst" "0.409387" "02325" "CYP11B1_000005" "g.143960597G>A" "" "" "" "CYP11B1(NM_000497.4):c.246C>T (p.D82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142879181G>A" "" "benign" "" "0000267230" "0" "10" "8" "143959250" "143959250" "subst" "0" "02325" "CYP11B1_000004" "g.143959250T>C" "" "" "" "CYP11B1(NM_000497.4):c.396-612A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142877834T>C" "" "benign" "" "0000267231" "0" "10" "8" "143958427" "143958427" "subst" "0.575527" "02325" "CYP11B1_000003" "g.143958427C>T" "" "" "" "CYP11B1(NM_000497.4):c.595+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142877011C>T" "" "benign" "" "0000270667" "0" "10" "8" "143956693" "143956693" "subst" "0.077308" "02326" "CYP11B1_000001" "g.143956693G>A" "" "" "" "CYP11B1(NM_000497.3):c.1157C>T (p.A386V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142875277G>A" "" "benign" "" "0000337219" "0" "10" "8" "143955916" "143955916" "subst" "0.0842749" "02327" "CYP11B1_000007" "g.143955916C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142874500C>G" "" "benign" "" "0000337221" "0" "10" "8" "143958427" "143958427" "subst" "0.575527" "02327" "CYP11B1_000003" "g.143958427C>T" "" "" "" "CYP11B1(NM_000497.4):c.595+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142877011C>T" "" "benign" "" "0000339445" "0" "10" "8" "143957129" "143957129" "subst" "0.0174396" "02327" "CYP11B1_000010" "g.143957129G>T" "" "" "" "CYP11B1(NM_000497.3):c.1120C>A (p.R374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142875713G>T" "" "benign" "" "0000339446" "0" "10" "8" "143957163" "143957163" "subst" "0.0833102" "02327" "CYP11B1_000011" "g.143957163C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142875747C>G" "" "benign" "" "0000339447" "0" "30" "8" "143958575" "143958575" "subst" "0.000284479" "02327" "CYP11B1_000017" "g.143958575A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142877159A>G" "" "likely benign" "" "0000339448" "0" "30" "8" "143958599" "143958599" "subst" "0.000121954" "02327" "CYP11B1_000020" "g.143958599A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142877183A>G" "" "likely benign" "" "0000339449" "0" "10" "8" "143960597" "143960597" "subst" "0.409387" "02327" "CYP11B1_000005" "g.143960597G>A" "" "" "" "CYP11B1(NM_000497.4):c.246C>T (p.D82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142879181G>A" "" "benign" "" "0000339450" "0" "10" "8" "143960600" "143960600" "subst" "0.00650106" "02327" "CYP11B1_000021" "g.143960600G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142879184G>A" "" "benign" "" "0000339451" "0" "10" "8" "143961005" "143961005" "subst" "0.580302" "02327" "CYP11B1_000006" "g.143961005T>C" "" "" "" "CYP11B1(NM_000497.4):c.225A>G (p.L75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142879589T>C" "" "benign" "" "0000343606" "0" "30" "8" "143958578" "143958578" "subst" "0.000325132" "02327" "CYP11B1_000018" "g.143958578G>C" "" "" "" "CYP11B1(NM_000497.3):c.456C>G (p.N152K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142877162G>C" "" "likely benign" "" "0000344718" "0" "90" "8" "143958104" "143958104" "subst" "0" "02327" "CYP11B1_000016" "g.143958104G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142876688G>A" "" "pathogenic" "" "0000345142" "0" "30" "8" "143958593" "143958593" "subst" "0.0001016" "02327" "CYP11B1_000019" "g.143958593T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142877177T>A" "" "likely benign" "" "0000347085" "0" "90" "8" "143957715" "143957715" "subst" "0" "02327" "CYP11B1_000013" "g.143957715A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142876299A>G" "" "pathogenic" "" "0000350423" "0" "90" "8" "143958098" "143958098" "subst" "8.77647E-6" "02327" "CYP11B1_000015" "g.143958098C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142876682C>T" "" "pathogenic" "" "0000350922" "0" "90" "8" "143958093" "143958093" "subst" "3.59215E-5" "02327" "CYP11B1_000014" "g.143958093C>G" "" "" "" "CYP11B1(NM_000497.4):c.799+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142876677C>G" "" "pathogenic" "" "0000533869" "0" "30" "8" "143957235" "143957235" "subst" "0.00121585" "01943" "CYP11B1_000023" "g.143957235C>T" "" "" "" "CYP11B1(NM_000497.3):c.1014G>A (p.Q338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142875819C>T" "" "likely benign" "" "0000533870" "0" "90" "8" "143957671" "143957671" "subst" "0" "02327" "CYP11B1_000024" "g.143957671C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142876255C>G" "" "pathogenic" "" "0000611470" "0" "30" "8" "143956725" "143956725" "subst" "0" "02327" "CYP11B1_000026" "g.143956725G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142875309G>C" "" "likely benign" "" "0000611471" "0" "50" "8" "143957509" "143957509" "subst" "0" "02327" "CYP11B1_000028" "g.143957509G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142876093G>C" "" "VUS" "" "0000611472" "0" "90" "8" "143958585" "143958585" "subst" "0.000117843" "02327" "CYP11B1_000029" "g.143958585G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142877169G>A" "" "pathogenic" "" "0000622001" "0" "30" "8" "143957185" "143957185" "subst" "0.000134307" "01943" "CYP11B1_000027" "g.143957185G>A" "" "" "" "CYP11B1(NM_000497.3):c.1064C>T (p.P355L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142875769G>A" "" "likely benign" "" "0000652438" "1" "90" "8" "143957658" "143957658" "subst" "1.21881E-5" "03575" "CYP11B1_000030" "g.143957658G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs104894061}" "Germline" "" "rs104894061" "0" "" "" "g.142876242G>A" "" "pathogenic" "" "0000674655" "11" "70" "8" "143956697" "143956700" "del" "0" "01482" "CYP11B1_000031" "g.143956697_143956700del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.142875281_142875284del" "" "likely pathogenic (recessive)" "ACMG" "0000674656" "21" "70" "8" "143958634" "143958634" "subst" "0" "01482" "CYP11B1_000035" "g.143958634C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000674657" "11" "90" "8" "143958098" "143958098" "subst" "8.77647E-6" "01482" "CYP11B1_000015" "g.143958098C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000674658" "11" "90" "8" "143958613" "143958613" "subst" "8.14936E-6" "01482" "CYP11B1_000034" "g.143958613G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000674659" "21" "70" "8" "143961013" "143961013" "subst" "0" "01482" "CYP11B1_000036" "g.143961013G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000674660" "21" "70" "8" "143956411" "143956411" "subst" "4.06256E-6" "01482" "CYP11B1_000033" "g.143956411G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000674661" "11" "70" "8" "143956368" "143956368" "subst" "0" "01482" "CYP11B1_000032" "g.143956368C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000721810" "0" "30" "8" "143957235" "143957235" "subst" "0.00121585" "02326" "CYP11B1_000023" "g.143957235C>T" "" "" "" "CYP11B1(NM_000497.3):c.1014G>A (p.Q338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803465" "0" "30" "8" "143956499" "143956499" "subst" "2.43732E-5" "01943" "CYP11B1_000037" "g.143956499G>A" "" "" "" "CYP11B1(NM_000497.3):c.1272C>T (p.N424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803466" "0" "30" "8" "143956505" "143956505" "subst" "2.4373E-5" "01943" "CYP11B1_000038" "g.143956505G>C" "" "" "" "CYP11B1(NM_000497.3):c.1266C>G (p.R422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803467" "0" "90" "8" "143957183" "143957183" "subst" "5.69879E-5" "02326" "CYP11B1_000039" "g.143957183G>A" "" "" "" "CYP11B1(NM_000497.3):c.1066C>T (p.Q356*), CYP11B1(NM_000497.4):c.1066C>T (p.(Gln356*), p.Q356*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803468" "0" "30" "8" "143957246" "143957246" "subst" "0.000655175" "02326" "CYP11B1_000040" "g.143957246T>C" "" "" "" "CYP11B1(NM_000497.3):c.1003A>G (p.N335D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803469" "0" "30" "8" "143958154" "143958154" "subst" "0.000943527" "02326" "CYP11B1_000041" "g.143958154G>A" "" "" "" "CYP11B1(NM_000497.3):c.743C>T (p.T248I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803470" "0" "30" "8" "143961180" "143961180" "subst" "0.000109758" "02326" "CYP11B1_000042" "g.143961180G>A" "" "" "" "CYP11B1(NM_000497.3):c.50C>T (p.S17F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851810" "0" "30" "8" "143955850" "143955850" "subst" "0.00102735" "02326" "CYP11B1_000043" "g.143955850A>T" "" "" "" "CYP11B1(NM_000497.3):c.1451T>A (p.V484D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861071" "0" "90" "8" "143956699" "143956699" "subst" "4.07179E-6" "02327" "CYP11B1_000044" "g.143956699C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861072" "0" "70" "8" "143960458" "143960458" "subst" "1.62485E-5" "01943" "CYP11B1_000045" "g.143960458C>T" "" "" "" "CYP11B1(NM_000497.3):c.385G>A (p.V129M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888176" "0" "10" "8" "143956418" "143956418" "subst" "0.00303825" "02327" "CYP11B1_000046" "g.143956418A>G" "" "" "" "CYP11B1(NM_000497.3):c.1353T>C (p.L451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888177" "0" "30" "8" "143956418" "143956418" "subst" "0.00303825" "02326" "CYP11B1_000046" "g.143956418A>G" "" "" "" "CYP11B1(NM_000497.3):c.1353T>C (p.L451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888178" "0" "30" "8" "143957786" "143957786" "subst" "0.000837664" "02326" "CYP11B1_000047" "g.143957786A>G" "" "" "" "CYP11B1(NM_000497.3):c.825T>C (p.Y275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912885" "0" "30" "8" "143958578" "143958578" "subst" "0.000325132" "02326" "CYP11B1_000018" "g.143958578G>C" "" "" "" "CYP11B1(NM_000497.3):c.456C>G (p.N152K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924825" "0" "30" "8" "143960439" "143960439" "subst" "0.000536987" "02326" "CYP11B1_000048" "g.143960439G>A" "" "" "" "CYP11B1(NM_000497.3):c.395+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929414" "0" "30" "8" "143958479" "143958479" "subst" "0.000277187" "02326" "CYP11B1_000049" "g.143958479G>A" "" "" "" "CYP11B1(NM_000497.3):c.555C>T (p.T185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949025" "0" "10" "8" "143957129" "143957129" "subst" "0.0174396" "02326" "CYP11B1_000010" "g.143957129G>T" "" "" "" "CYP11B1(NM_000497.3):c.1120C>A (p.R374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949026" "0" "90" "8" "143957183" "143957183" "subst" "5.69879E-5" "02327" "CYP11B1_000039" "g.143957183G>A" "" "" "" "CYP11B1(NM_000497.3):c.1066C>T (p.Q356*), CYP11B1(NM_000497.4):c.1066C>T (p.(Gln356*), p.Q356*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949027" "0" "70" "8" "143958286" "143958286" "del" "0" "02326" "CYP11B1_000050" "g.143958286del" "" "" "" "CYP11B1(NM_000497.3):c.615delT (p.F205Lfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000954198" "21" "90" "8" "143958438" "143958438" "subst" "4.08704E-6" "00006" "CYP11B1_000064" "g.143958438C>T" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.142877022C>T" "" "pathogenic" "ACMG" "0000954199" "21" "70" "8" "143956553" "143956553" "del" "0" "00006" "CYP11B1_000056" "g.143956553del" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.142875137del" "" "likely pathogenic" "ACMG" "0000954200" "21" "70" "8" "143961171" "143961171" "del" "0" "00006" "CYP11B1_000068" "g.143961171del" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.142879755del" "" "likely pathogenic" "ACMG" "0000954201" "21" "70" "8" "143957704" "143957704" "del" "4.06105E-6" "00006" "CYP11B1_000061" "g.143957704del" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.142876288del" "" "likely pathogenic" "ACMG" "0000954202" "21" "70" "8" "143957666" "143957666" "subst" "4.0618E-6" "00006" "CYP11B1_000059" "g.143957666G>T" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.142876250G>T" "" "likely pathogenic" "ACMG" "0000954203" "21" "70" "8" "143956429" "143956429" "subst" "4.06147E-6" "00006" "CYP11B1_000054" "g.143956429G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.142875013G>A" "" "likely pathogenic" "ACMG" "0000954204" "0" "90" "8" "143956413" "143956413" "dup" "0" "00006" "CYP11B1_000053" "g.143956413dup" "" "{PMID:Duan 2023:37586839}" "" "" "" "De novo" "" "" "0" "" "" "g.142874997dup" "" "pathogenic" "ACMG" "0000954205" "21" "70" "8" "143956387" "143956392" "dup" "0" "00006" "CYP11B1_000051" "g.143956387_143956392dup" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.142874971_142874976dup" "" "likely pathogenic" "ACMG" "0000954206" "21" "70" "8" "143956446" "143956446" "subst" "0" "00006" "CYP11B1_000055" "g.143956446G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.142875030G>A" "" "likely pathogenic" "ACMG" "0000954207" "3" "90" "8" "143957127" "143961236" "del" "0" "00006" "CYP11B1_000057" "g.(143956729_143957127)_(143961236_?)del" "" "{PMID:Duan 2023:37586839}" "" "1_1121del" "" "De novo" "" "" "0" "" "" "g.(142875313_142875711)_(142879820_?)del" "" "pathogenic" "ACMG" "0000954208" "21" "70" "8" "143956390" "143956392" "del" "0" "00006" "CYP11B1_000052" "g.143956390_143956392del" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.142874974_142874976del" "" "likely pathogenic" "ACMG" "0000954209" "3" "90" "8" "143960990" "143960990" "subst" "0" "00006" "CYP11B1_000067" "g.143960990C>G" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.142879574C>G" "" "pathogenic" "ACMG" "0000954304" "11" "50" "8" "143957666" "143957666" "subst" "0" "00006" "CYP11B1_000060" "g.143957666G>C" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.142876250G>C" "" "VUS" "ACMG" "0000954305" "11" "90" "8" "143957657" "143957657" "subst" "4.06332E-6" "00006" "CYP11B1_000058" "g.143957657C>G" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.142876241C>G" "" "pathogenic" "ACMG" "0000954306" "11" "50" "8" "143957814" "143957814" "subst" "0" "00006" "CYP11B1_000063" "g.143957814A>C" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.142876398A>C" "" "VUS" "ACMG" "0000954307" "11" "90" "8" "143956411" "143956411" "subst" "4.06256E-6" "00006" "CYP11B1_000033" "g.143956411G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.142874995G>A" "" "pathogenic" "ACMG" "0000954308" "11" "50" "8" "143960481" "143960483" "del" "0" "00006" "CYP11B1_000066" "g.143960481_143960483del" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.142879065_142879067del" "" "VUS" "ACMG" "0000954309" "11" "70" "8" "143960455" "143960455" "subst" "0" "00006" "CYP11B1_000065" "g.143960455A>G" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.142879039A>G" "" "likely pathogenic" "ACMG" "0000954310" "0" "90" "8" "143957127" "143961236" "del" "0" "00006" "CYP11B1_000057" "g.(143956729_143957127)_(143961236_?)del" "" "{PMID:Duan 2023:37586839}" "" "1_1121del" "" "De novo" "" "" "0" "" "" "g.(142875313_142875711)_(142879820_?)del" "" "pathogenic" "ACMG" "0000954311" "11" "90" "8" "143956700" "143956703" "del" "0" "00006" "CYP11B1_000031" "g.143956700_143956703del" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.142875284_142875287del" "" "pathogenic" "ACMG" "0000954312" "0" "90" "8" "143957127" "143961236" "del" "0" "00006" "CYP11B1_000057" "g.(143956729_143957127)_(143961236_?)del" "" "{PMID:Duan 2023:37586839}" "" "1_1121del" "" "De novo" "" "" "0" "" "" "g.(142875313_142875711)_(142879820_?)del" "" "pathogenic" "ACMG" "0000954313" "11" "70" "8" "143957753" "143957753" "subst" "0" "00006" "CYP11B1_000062" "g.143957753G>T" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.142876337G>T" "" "likely pathogenic" "ACMG" "0000978056" "0" "70" "8" "143958185" "143958185" "dup" "0" "01804" "CYP11B1_000069" "g.143958185dup" "" "" "" "CYP11B1(NM_000497.4):c.712dup (p.(Met238Asnfs*21))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000996954" "0" "30" "8" "143957681" "143957681" "subst" "0.000515761" "02326" "CYP11B1_000070" "g.143957681T>C" "" "" "" "CYP11B1(NM_000497.3):c.930A>G (p.E310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996955" "0" "50" "8" "143961058" "143961058" "subst" "4.06124E-6" "01804" "CYP11B1_000071" "g.143961058C>T" "" "" "" "CYP11B1(NM_000497.3):c.172G>A (p.(Glu58Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036763" "0" "50" "8" "143956368" "143956368" "subst" "0" "01804" "CYP11B1_000032" "g.143956368C>G" "" "" "" "CYP11B1(NM_000497.4):c.1398+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036764" "0" "90" "8" "143957183" "143957183" "subst" "5.69879E-5" "01804" "CYP11B1_000039" "g.143957183G>A" "" "" "" "CYP11B1(NM_000497.3):c.1066C>T (p.Q356*), CYP11B1(NM_000497.4):c.1066C>T (p.(Gln356*), p.Q356*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001036765" "0" "90" "8" "143957254" "143957254" "subst" "4.06683E-5" "01804" "CYP11B1_000072" "g.143957254C>T" "" "" "" "CYP11B1(NM_000497.4):c.995G>A (p.(Arg332Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001036766" "0" "70" "8" "143957695" "143957695" "subst" "4.06101E-6" "01804" "CYP11B1_000073" "g.143957695C>T" "" "" "" "CYP11B1(NM_000497.4):c.916G>A (p.(Ala306Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001036767" "0" "50" "8" "143961092" "143961092" "subst" "9.34063E-5" "01804" "CYP11B1_000074" "g.143961092G>A" "" "" "" "CYP11B1(NM_000497.4):c.138C>T (p.(Gly46=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036768" "0" "30" "8" "143961153" "143961153" "subst" "9.34823E-5" "01804" "CYP11B1_000075" "g.143961153G>A" "" "" "" "CYP11B1(NM_000497.4):c.77C>T (p.(Thr26Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045348" "3" "70" "8" "143957222" "143957222" "subst" "0" "01298" "CYP11B1_000076" "g.143957222C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.142875806C>T" "" "likely pathogenic (recessive)" "" "0001046143" "0" "90" "8" "143957183" "143957183" "subst" "5.69879E-5" "02325" "CYP11B1_000039" "g.143957183G>A" "" "" "" "CYP11B1(NM_000497.3):c.1066C>T (p.Q356*), CYP11B1(NM_000497.4):c.1066C>T (p.(Gln356*), p.Q356*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046144" "0" "70" "8" "143958093" "143958093" "subst" "3.59215E-5" "02325" "CYP11B1_000014" "g.143958093C>G" "" "" "" "CYP11B1(NM_000497.4):c.799+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001049811" "11" "90" "8" "143960511" "143960512" "delins" "0" "00006" "CYP11B1_000077" "g.143960511_143960512delinsG" "" "{PMID:Janot 2025:40819900}" "" "" "" "Germline" "" "" "0" "" "" "g.142879095_142879096delinsG" "" "pathogenic (recessive)" "" "0001049812" "21" "90" "8" "143957119" "143957120" ";" "0" "00006" "CYP11B1_000078" "g.[143957119_143957120del;143957121_143957719inv]" "" "{PMID:Janot 2025:40819900}" "" "" "" "Germline" "" "" "0" "" "" "g.[142875703_142875704del;142875705_142876303inv]" "" "pathogenic (recessive)" "" "0001053123" "0" "50" "8" "143957255" "143957255" "subst" "0" "01804" "CYP11B1_000079" "g.143957255G>C" "" "" "" "CYP11B1(NM_000497.4):c.994C>G (p.(Arg332Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053124" "0" "30" "8" "143957723" "143957723" "subst" "0.000219466" "01804" "CYP11B1_000080" "g.143957723A>C" "" "" "" "CYP11B1(NM_000497.4):c.888T>G (p.(Asn296Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053125" "0" "50" "8" "143960459" "143960459" "subst" "5.28125E-5" "01804" "CYP11B1_000081" "g.143960459G>A" "" "" "" "CYP11B1(NM_000497.4):c.384C>T (p.(Gly128=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CYP11B1 ## Count = 93 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000249125" "00006038" "10" "1122" "-80" "1122" "-80" "c.1122-80T>G" "r.(=)" "p.(=)" "" "" "0000267228" "00006038" "10" "225" "0" "225" "0" "c.225A>G" "r.(?)" "p.(Leu75=)" "" "" "0000267229" "00006038" "10" "246" "0" "246" "0" "c.246C>T" "r.(?)" "p.(Asp82=)" "" "" "0000267230" "00006038" "10" "396" "-612" "396" "-612" "c.396-612A>G" "r.(=)" "p.(=)" "" "" "0000267231" "00006038" "10" "595" "12" "595" "12" "c.595+12G>A" "r.(=)" "p.(=)" "" "" "0000270667" "00006038" "10" "1157" "0" "1157" "0" "c.1157C>T" "r.(?)" "p.(Ala386Val)" "" "" "0000337219" "00006038" "10" "1399" "-14" "1399" "-14" "c.1399-14G>C" "r.(=)" "p.(=)" "" "" "0000337221" "00006038" "10" "595" "12" "595" "12" "c.595+12G>A" "r.(=)" "p.(=)" "" "" "0000339445" "00006038" "10" "1120" "0" "1120" "0" "c.1120C>A" "r.(?)" "p.(Arg374=)" "" "" "0000339446" "00006038" "10" "1086" "0" "1086" "0" "c.1086G>C" "r.(?)" "p.(Leu362=)" "" "" "0000339447" "00006038" "30" "459" "0" "459" "0" "c.459T>C" "r.(?)" "p.(Ala153=)" "" "" "0000339448" "00006038" "30" "435" "0" "435" "0" "c.435T>C" "r.(?)" "p.(Asn145=)" "" "" "0000339449" "00006038" "10" "246" "0" "246" "0" "c.246C>T" "r.(?)" "p.(Asp82=)" "" "" "0000339450" "00006038" "10" "243" "0" "243" "0" "c.243C>T" "r.(?)" "p.(Tyr81=)" "" "" "0000339451" "00006038" "10" "225" "0" "225" "0" "c.225A>G" "r.(?)" "p.(Leu75=)" "" "" "0000343606" "00006038" "30" "456" "0" "456" "0" "c.456C>G" "r.(?)" "p.(Asn152Lys)" "" "" "0000344718" "00006038" "90" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Gln265Ter)" "" "" "0000345142" "00006038" "30" "441" "0" "441" "0" "c.441A>T" "r.(?)" "p.(Glu147Asp)" "" "" "0000347085" "00006038" "90" "896" "0" "896" "0" "c.896T>C" "r.(?)" "p.(Leu299Pro)" "" "" "0000350423" "00006038" "90" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Gly267Ser)" "" "" "0000350922" "00006038" "90" "799" "5" "799" "5" "c.799+5G>C" "r.spl?" "p.?" "" "" "0000533869" "00006038" "30" "1014" "0" "1014" "0" "c.1014G>A" "r.(?)" "p.(Gln338=)" "" "" "0000533870" "00006038" "90" "940" "0" "940" "0" "c.940G>C" "r.(?)" "p.(Gly314Arg)" "" "" "0000611470" "00006038" "30" "1125" "0" "1125" "0" "c.1125C>G" "r.(?)" "p.(Leu375=)" "" "" "0000611471" "00006038" "50" "954" "148" "954" "148" "c.954+148C>G" "r.(=)" "p.(=)" "" "" "0000611472" "00006038" "90" "449" "0" "449" "0" "c.449C>T" "r.(?)" "p.(Ser150Leu)" "" "" "0000622001" "00006038" "30" "1064" "0" "1064" "0" "c.1064C>T" "r.(?)" "p.(Pro355Leu)" "" "" "0000652438" "00006038" "90" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Thr318Met)" "" "" "0000674655" "00006038" "70" "1150" "0" "1153" "0" "c.1150_1153del" "r.(?)" "p.(Arg384Trpfs*45)" "" "" "0000674656" "00006038" "70" "400" "0" "400" "0" "c.400G>C" "r.(?)" "p.(Gly134Arg)" "" "" "0000674657" "00006038" "90" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Gly267Ser)" "" "" "0000674658" "00006038" "90" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Arg141*)" "" "" "0000674659" "00006038" "70" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Gln73*)" "" "" "0000674660" "00006038" "70" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Arg454Cys)" "" "" "0000674661" "00006038" "70" "1398" "5" "1398" "5" "c.1398+5G>C" "r.spl?" "p.?" "" "" "0000721810" "00006038" "30" "1014" "0" "1014" "0" "c.1014G>A" "r.(?)" "p.(Gln338=)" "" "" "0000803465" "00006038" "30" "1272" "0" "1272" "0" "c.1272C>T" "r.(?)" "p.(Asn424=)" "" "" "0000803466" "00006038" "30" "1266" "0" "1266" "0" "c.1266C>G" "r.(?)" "p.(Arg422=)" "" "" "0000803467" "00006038" "90" "1066" "0" "1066" "0" "c.1066C>T" "r.(?)" "p.(Gln356*)" "" "" "0000803468" "00006038" "30" "1003" "0" "1003" "0" "c.1003A>G" "r.(?)" "p.(Asn335Asp)" "" "" "0000803469" "00006038" "30" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Thr248Ile)" "" "" "0000803470" "00006038" "30" "50" "0" "50" "0" "c.50C>T" "r.(?)" "p.(Ser17Phe)" "" "" "0000851810" "00006038" "30" "1451" "0" "1451" "0" "c.1451T>A" "r.(?)" "p.(Val484Asp)" "" "" "0000861071" "00006038" "90" "1151" "0" "1151" "0" "c.1151G>A" "r.(?)" "p.(Arg384Gln)" "" "" "0000861072" "00006038" "70" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Val129Met)" "" "" "0000888176" "00006038" "10" "1353" "0" "1353" "0" "c.1353T>C" "r.(?)" "p.(Leu451=)" "" "" "0000888177" "00006038" "30" "1353" "0" "1353" "0" "c.1353T>C" "r.(?)" "p.(Leu451=)" "" "" "0000888178" "00006038" "30" "825" "0" "825" "0" "c.825T>C" "r.(?)" "p.(Tyr275=)" "" "" "0000912885" "00006038" "30" "456" "0" "456" "0" "c.456C>G" "r.(?)" "p.(Asn152Lys)" "" "" "0000924825" "00006038" "30" "395" "9" "395" "9" "c.395+9C>T" "r.(=)" "p.(=)" "" "" "0000929414" "00006038" "30" "555" "0" "555" "0" "c.555C>T" "r.(?)" "p.(=)" "" "" "0000949025" "00006038" "10" "1120" "0" "1120" "0" "c.1120C>A" "r.(?)" "p.(Arg374=)" "" "" "0000949026" "00006038" "90" "1066" "0" "1066" "0" "c.1066C>T" "r.(?)" "p.(Gln356*)" "" "" "0000949027" "00006038" "70" "615" "0" "615" "0" "c.615del" "r.(?)" "p.(Phe205Leufs*17)" "" "" "0000954198" "00006038" "90" "595" "1" "595" "1" "c.595+1G>A" "r.spl" "p.?" "" "" "0000954199" "00006038" "70" "1219" "0" "1219" "0" "c.1219del" "r.(?)" "p.(Leu407SerfsTer23)" "" "" "0000954200" "00006038" "70" "61" "0" "61" "0" "c.61del" "r.(?)" "p.(Ala21HisfsTer30)" "" "" "0000954201" "00006038" "70" "907" "0" "907" "0" "c.907del" "r.(?)" "p.(Ala303ProfsTer22)" "" "" "0000954202" "00006038" "70" "945" "0" "945" "0" "c.945C>A" "r.(?)" "p.(Ser315Arg)" "" "" "0000954203" "00006038" "70" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Cys)" "" "" "0000954204" "00006038" "90" "1359" "0" "1359" "0" "c.1359dup" "r.(?)" "p.(Arg454AlafsTer84)" "" "" "0000954205" "00006038" "70" "1388" "0" "1393" "0" "c.1388_1393dup" "r.(?)" "p.(Leu463_Leu464dup)" "" "" "0000954206" "00006038" "70" "1325" "0" "1325" "0" "c.1325C>T" "r.(?)" "p.(Pro442Leu)" "" "" "0000954207" "00006038" "90" "" "0" "" "0" "c.-7_(1121+1_1122-1){0}" "r.?" "p.0?" "" "" "0000954208" "00006038" "70" "1391" "0" "1393" "0" "c.1391_1393del" "r.(?)" "p.(Leu464del)" "" "" "0000954209" "00006038" "90" "239" "1" "239" "1" "c.239+1G>C" "r.spl" "p.?" "" "" "0000954304" "00006038" "50" "945" "0" "945" "0" "c.945C>G" "r.(?)" "p.(Ser315Arg)" "" "" "0000954305" "00006038" "90" "954" "0" "954" "0" "c.954G>C" "r.spl" "p.(?,Thr318=)" "" "" "0000954306" "00006038" "50" "800" "-3" "800" "-3" "c.800-3T>G" "r.spl" "p.?" "" "" "0000954307" "00006038" "90" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Arg454Cys)" "" "" "0000954308" "00006038" "50" "363" "0" "365" "0" "c.363_365del" "r.(?)" "p.(Gln121del)" "" "" "0000954309" "00006038" "70" "388" "0" "388" "0" "c.388T>C" "r.(?)" "p.(Phe130Leu)" "" "" "0000954310" "00006038" "90" "" "0" "" "0" "c.-7_(1121+1_1122-1){0}" "r.?" "p.0?" "" "" "0000954311" "00006038" "90" "1150" "0" "1153" "0" "c.1150_1153del" "r.(?)" "p.(Arg384TrpfsTer45)" "" "" "0000954312" "00006038" "90" "" "0" "" "0" "c.-7_(1121+1_1122-1){0}" "r.?" "p.0?" "" "" "0000954313" "00006038" "70" "858" "0" "858" "0" "c.858C>A" "r.(?)" "p.(Tyr286Ter)" "" "" "0000978056" "00006038" "70" "712" "0" "712" "0" "c.712dup" "r.(?)" "p.(Met238Asnfs*21)" "" "" "0000996954" "00006038" "30" "930" "0" "930" "0" "c.930A>G" "r.(?)" "p.(=)" "" "" "0000996955" "00006038" "50" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Glu58Lys)" "" "" "0001036763" "00006038" "50" "1398" "5" "1398" "5" "c.1398+5G>C" "r.spl?" "p.?" "" "" "0001036764" "00006038" "90" "1066" "0" "1066" "0" "c.1066C>T" "r.(?)" "p.(Gln356*)" "" "" "0001036765" "00006038" "90" "995" "0" "995" "0" "c.995G>A" "r.(?)" "p.(Arg332Gln)" "" "" "0001036766" "00006038" "70" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Ala306Thr)" "" "" "0001036767" "00006038" "50" "138" "0" "138" "0" "c.138C>T" "r.(?)" "p.(=)" "" "" "0001036768" "00006038" "30" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Thr26Met)" "" "" "0001045348" "00006038" "70" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Glu343Lys)" "6" "" "0001046143" "00006038" "90" "1066" "0" "1066" "0" "c.1066C>T" "r.(?)" "p.(Gln356*)" "" "" "0001046144" "00006038" "70" "799" "5" "799" "5" "c.799+5G>C" "r.spl?" "p.?" "" "" "0001049811" "00006038" "90" "331" "0" "332" "0" "c.331_332delinsC" "r.(?)" "p.(Met111ArgfsTer22)" "" "" "0001049812" "00006038" "90" "0" "0" "0" "0" "c.[892_1121+7 inv;1121+8_1121+9del]" "r.?" "p.?" "5_6i" "" "0001053123" "00006038" "50" "994" "0" "994" "0" "c.994C>G" "r.(?)" "p.(Arg332Gly)" "" "" "0001053124" "00006038" "30" "888" "0" "888" "0" "c.888T>G" "r.(?)" "p.(Asn296Lys)" "" "" "0001053125" "00006038" "50" "384" "0" "384" "0" "c.384C>T" "r.(?)" "p.(=)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{variantid}}" "0000295749" "0000652438" "0000307851" "0000674655" "0000307852" "0000674656" "0000307852" "0000674657" "0000307853" "0000674658" "0000307853" "0000674659" "0000307854" "0000674660" "0000307854" "0000674661" "0000445988" "0000954198" "0000445988" "0000954304" "0000445989" "0000954199" "0000445989" "0000954305" "0000445990" "0000954200" "0000445990" "0000954306" "0000445991" "0000954201" "0000445991" "0000954307" "0000445992" "0000954202" "0000445992" "0000954308" "0000445993" "0000954203" "0000445993" "0000954309" "0000445994" "0000954204" "0000445994" "0000954310" "0000445995" "0000954205" "0000445995" "0000954311" "0000445996" "0000954206" "0000445996" "0000954312" "0000445997" "0000954207" "0000445998" "0000954208" "0000445998" "0000954313" "0000445999" "0000954209" "0000467519" "0001045348" "0000469476" "0001049811" "0000469476" "0001049812"