### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POMC) # 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}}" "POMC" "proopiomelanocortin" "2" "p23" "unknown" "NG_008997.1" "UD_132084448925" "" "https://www.LOVD.nl/POMC" "" "1" "9201" "5443" "176830" "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/POMC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-13 16:41:38" "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}}" "00025679" "POMC" "transcript variant 2" "001" "NM_000939.2" "" "NP_000930.1" "" "" "" "-213" "1032" "804" "25391559" "25383722" "00006" "2022-01-13 16:35:31" "" "" ## 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" "00259" "obesity" "obesity, susceptibility to (incl. leanness)" "AD;AR;Mu" "601665" "" "" "" "00006" "2013-10-28 15:05:17" "00006" "2022-01-13 16:46:00" "02872" "OBAIRH" "obesity, adrenal insufficiency, red hair (OBAIRH, proopiomelanocortin deficiency)" "AR" "609734" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "POMC" "00259" "POMC" "02872" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00292672" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292673" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303037" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat82" "00398854" "" "" "" "1" "" "00006" "{PMID:Krude 1998:9620771}" "2-generation family, 2 affected (brother/sister), unaffected heterozygous carrier parents" "F" "no" "Germany" "" "0" "" "" "" "FamPat1" "00398855" "" "" "" "1" "" "00006" "{PMID:Krude 1998:9620771}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Germany" "" "0" "" "" "" "Pat2" "00398857" "" "" "" "1" "" "00006" "{PMID:Krude 2003:14557433}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Slovenia" "" "0" "" "" "" "Fam1" "00398858" "" "" "" "1" "" "00006" "{PMID:Krude 2003:14557433}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "Fam2" "00398859" "" "" "" "1" "" "00006" "{PMID:Krude 2003:14557433}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "Switzerland" "" "0" "" "" "" "Fam3" "00398860" "" "" "" "5" "" "00006" "{PMID:Challis 2002:12165561}" "3-generation family, 6 affected (3F, 3M), 5 heterozygous" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "FamPatB/III12" "00398862" "" "" "" "5" "" "00006" "{PMID:Challis 2002:12165561}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "PatA" "00398863" "" "" "" "5" "" "00006" "{PMID:Challis 2002:12165561}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00398864" "" "" "" "5" "" "00006" "{PMID:Challis 2002:12165561}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00398865" "" "" "" "5" "" "00006" "{PMID:Challis 2002:12165561}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00398866" "" "" "" "5" "" "00006" "{PMID:Challis 2002:12165561}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00398867" "" "" "" "5" "" "00006" "{PMID:Challis 2002:12165561}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00398868" "" "" "" "5" "" "00006" "{PMID:Challis 2002:12165561}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00398869" "" "" "" "5" "" "00006" "{PMID:Challis 2002:12165561}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00398870" "" "" "" "5" "" "00006" "{PMID:Challis 2002:12165561}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00398872" "" "" "" "1" "" "00006" "{PMID:Clement 2008:18765507}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "France" "" "0" "" "" "Africa-N" "FamPatII5" "00436835" "" "" "" "2" "" "00006" "{PMID:Shchagina 2023:37569734}" "3-generation family, 2 affected (2M), unaffected heterozygous carrier parents" "M" "" "Russia" "" "0" "" "" "Perm’ Tatar" "FamPatIII1" "00436836" "" "" "00436835" "1" "" "00006" "{PMID:Shchagina 2023:37569734}" "nephew" "M" "" "Russia" "" "0" "" "" "Perm’ Tatar" "FamPatIII2 (PatD)" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00292672" "00198" "00292673" "00198" "00303037" "05521" "00398854" "02872" "00398855" "02872" "00398857" "02872" "00398858" "02872" "00398859" "02872" "00398860" "00259" "00398872" "00259" "00436835" "02872" "00436836" "02872" "00436836" "05324" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00259, 02872, 05324, 05521 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000230120" "05521" "00303037" "00006" "Familial, autosomal recessive" "" "Unclassified epilepsy; age onset infantile" "" "" "" "" "" "" "" "" "" "seizures" "" "0000291951" "02872" "00398854" "00006" "Familial, autosomal recessive" "03y" "see paper; ..., obesity, red hair pigmentation and ACTH deficiency; brother 7m-died hepatic failure following severe cholestasis caused\r\nby adrenal insufficiency due to bilateral adrenal hypoplasia" "" "" "" "" "" "" "" "" "OBAIRH" "obesity, red hair pigmentation, ACTH defiiciency" "" "0000291953" "02872" "00398855" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., obesity, red hair pigmentation, ACTH defiiciency" "" "" "" "" "" "" "" "" "OBAIRH" "obesity, red hair pigmentation, ACTH defiiciency" "" "0000291955" "02872" "00398857" "00006" "Familial, autosomal recessive" "" "see paper; ..., early-onset obesity, red hair, hypocortisolism, hypoglycemia, convulsions" "" "" "hypoglycemia, convulsions" "" "" "" "" "" "OBAIRH" "hypoglycemia, convulsions" "" "0000291956" "02872" "00398858" "00006" "Familial, autosomal recessive" "" "see paper; ..., 2d-low serum glucose levels, 4w-generalized convulsions, obesity, red hair pigmentation, ACTH defiiciency" "00y00m02d" "" "low serum glucose levels" "" "" "" "" "" "" "obesity, red hair pigmentation, ACTH defiiciency" "" "0000291957" "02872" "00398859" "00006" "Familial, autosomal recessive" "" "see paper; ..., 6m-convulsions, hypoglycemia due to ACTH deficiency, red hair, pale skin" "00y06m" "" "" "" "" "" "" "" "OBAIRH" "" "" "0000291958" "00259" "00398860" "00006" "Unknown" "13y" "see paper; ..., early-onset obesity, hyperphagia" "" "" "" "" "" "" "" "" "" "early-onset obesity" "" "0000291960" "00259" "00398872" "00006" "Familial, autosomal recessive" "" "see paper; ..., 1d-ACTH deficiency; <2y-hyperphagia, obesity; puberty alterations somatotropic, gonadotropic, thyroid axes necessitating hormonal replacement; no obvious pigmentary features (hair color, skin reflectance; chemical analysis hair pigment increased pheomelanin/eumelanin" "00y00m01d" "" "ACTH deficiency" "" "" "" "" "" "" "ACTH deficiency" "" "0000326917" "02872" "00436835" "00006" "Familial, autosomal recessive" "" "see paper; ..., obesity, adrenal insufficiency, red hair syndrome" "" "" "" "" "" "" "" "" "OBAIRH" "" "" "0000326918" "05324" "00436836" "00006" "Isolated (sporadic)" "00y10m" "see paper; ..., elevated CK (14,333 U/L)" "" "" "" "" "" "" "" "" "DMD" "Duchenne muscular dystrophy" "" "0000326919" "02872" "00436836" "00006" "Familial, autosomal recessive" "" "see paper; ..., excessive body mass/height, red hair, hypoglycemia episodes, decrease in cortisol level" "" "" "" "" "" "" "" "" "OBAIRH" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000293840" "00292672" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293841" "00292673" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304162" "00303037" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000400094" "00398854" "1" "00006" "00006" "2022-01-13 16:55:43" "" "" "SEQ" "DNA" "" "" "0000400097" "00398855" "1" "00006" "00006" "2022-01-13 17:05:38" "" "" "SEQ" "DNA" "" "" "0000400099" "00398857" "1" "00006" "00006" "2022-01-13 17:19:32" "" "" "SEQ" "DNA" "" "" "0000400100" "00398858" "1" "00006" "00006" "2022-01-13 17:28:31" "" "" "SEQ" "DNA" "" "" "0000400101" "00398859" "1" "00006" "00006" "2022-01-13 17:32:44" "" "" "SEQ" "DNA" "" "" "0000400102" "00398860" "1" "00006" "00006" "2022-01-13 17:51:37" "" "" "SEQ" "DNA" "" "" "0000400104" "00398862" "1" "00006" "00006" "2022-01-13 17:51:37" "" "" "SEQ" "DNA" "" "" "0000400105" "00398863" "1" "00006" "00006" "2022-01-13 19:55:09" "" "" "SEQ" "DNA" "" "" "0000400106" "00398864" "1" "00006" "00006" "2022-01-13 19:55:25" "" "" "SEQ" "DNA" "" "" "0000400107" "00398865" "1" "00006" "00006" "2022-01-13 19:55:39" "" "" "SEQ" "DNA" "" "" "0000400108" "00398866" "1" "00006" "00006" "2022-01-13 19:56:14" "" "" "SEQ" "DNA" "" "" "0000400109" "00398867" "1" "00006" "00006" "2022-01-13 19:58:02" "" "" "SEQ" "DNA" "" "" "0000400110" "00398868" "1" "00006" "00006" "2022-01-13 20:41:53" "" "" "SEQ" "DNA" "" "" "0000400111" "00398869" "1" "00006" "00006" "2022-01-13 20:42:12" "" "" "SEQ" "DNA" "" "" "0000400112" "00398870" "1" "00006" "00006" "2022-01-13 20:42:27" "" "" "SEQ" "DNA" "" "" "0000400114" "00398872" "1" "00006" "00006" "2022-01-13 21:04:02" "" "" "SEQ" "DNA" "" "" "0000438315" "00436835" "1" "00006" "00006" "2023-10-10 21:21:29" "" "" "SEQ" "DNA" "" "" "0000438318" "00436836" "1" "00006" "00006" "2023-10-10 21:33:37" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000304162" "POMC" "0000400094" "POMC" "0000400097" "POMC" "0000400099" "POMC" "0000400100" "POMC" "0000400101" "POMC" "0000400102" "POMC" "0000400104" "POMC" "0000400105" "POMC" "0000400106" "POMC" "0000400107" "POMC" "0000400108" "POMC" "0000400109" "POMC" "0000400110" "POMC" "0000400111" "POMC" "0000400112" "POMC" "0000400114" "POMC" "0000438315" "POMC" "0000438318" "POMC" ## 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 = 65 "{{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}}" "0000252382" "0" "70" "2" "25384324" "25384324" "subst" "0.00018027" "02326" "POMC_000004" "g.25384324A>G" "" "" "" "POMC(NM_001035256.2):c.430T>C (p.F144L), POMC(NM_001035256.3):c.430T>C (p.F144L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25161455A>G" "" "likely pathogenic" "" "0000301128" "0" "30" "2" "25384587" "25384587" "subst" "0" "02326" "POMC_000011" "g.25384587G>T" "" "" "" "POMC(NM_001035256.2):c.167C>A (p.A56D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25161718G>T" "" "likely benign" "" "0000301130" "0" "30" "2" "25384499" "25384499" "subst" "9.7348E-5" "02326" "POMC_000010" "g.25384499G>C" "" "" "" "POMC(NM_001035256.2):c.255C>G (p.D85E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25161630G>C" "" "likely benign" "" "0000301131" "0" "10" "2" "25384472" "25384472" "subst" "0.052849" "02326" "POMC_000009" "g.25384472G>A" "" "" "" "POMC(NM_001035256.2):c.282C>T (p.S94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25161603G>A" "" "benign" "" "0000301133" "0" "30" "2" "25384388" "25384388" "subst" "0" "02326" "POMC_000006" "g.25384388C>G" "" "" "" "POMC(NM_001035256.2):c.366G>C (p.E122D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25161519C>G" "" "likely benign" "" "0000301134" "0" "30" "2" "25384360" "25384360" "subst" "0.00105885" "02326" "POMC_000005" "g.25384360G>C" "" "" "" "POMC(NM_001035256.2):c.394C>G (p.P132A), POMC(NM_001035256.3):c.394C>G (p.P132A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25161491G>C" "" "likely benign" "" "0000301135" "0" "30" "2" "25384152" "25384152" "subst" "3.37912E-5" "02326" "POMC_000003" "g.25384152G>A" "" "" "" "POMC(NM_001035256.2):c.602C>T (p.A201V), POMC(NM_001035256.3):c.602C>T (p.A201V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25161283G>A" "" "likely benign" "" "0000301136" "0" "30" "2" "25384113" "25384113" "subst" "0.0054643" "02326" "POMC_000002" "g.25384113T>C" "" "" "" "POMC(NM_001035256.2):c.641A>G (p.E214G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25161244T>C" "" "likely benign" "" "0000301137" "0" "90" "2" "25384048" "25384048" "subst" "0.0026246" "02326" "POMC_000001" "g.25384048G>C" "" "" "" "POMC(NM_001035256.2):c.706C>G (p.R236G), POMC(NM_001035256.3):c.706C>G (p.R236G), POMC(NM_001319204.2):c.706C>G (p.R236G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25161179G>C" "" "pathogenic" "" "0000515431" "0" "90" "2" "25384048" "25384048" "subst" "0.0026246" "02325" "POMC_000001" "g.25384048G>C" "" "" "" "POMC(NM_001035256.2):c.706C>G (p.R236G), POMC(NM_001035256.3):c.706C>G (p.R236G), POMC(NM_001319204.2):c.706C>G (p.R236G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25161179G>C" "" "pathogenic" "" "0000515432" "0" "50" "2" "25384298" "25384300" "del" "0" "01943" "EFR3B_000002" "g.25384298_25384300del" "" "" "" "POMC(NM_001319204.1):c.457_459delAAG (p.K153del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25161429_25161431del" "" "VUS" "" "0000515433" "0" "50" "2" "25384356" "25384356" "subst" "0" "02326" "EFR3B_000003" "g.25384356C>G" "" "" "" "POMC(NM_001035256.2):c.398G>C (p.R133P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25161487C>G" "" "VUS" "" "0000515434" "0" "50" "2" "25384459" "25384476" "dup" "0" "02325" "EFR3B_000004" "g.25384459_25384476dup" "" "" "" "POMC(NM_001035256.3):c.280_297dupAGCAGCGGCAGCAGCGGC (p.S94_G99dup), POMC(NM_001319204.2):c.280_297dupAGCAGCGGCAGCAGCGGC (p.S94_G99dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25161590_25161607dup" "" "VUS" "" "0000515435" "0" "10" "2" "25384468" "25384476" "dup" "0" "02326" "EFR3B_000005" "g.25384468_25384476dup" "" "" "" "POMC(NM_001035256.2):c.289_297dupAGCAGCGGC (p.S97_G99dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25161599_25161607dup" "" "benign" "" "0000515436" "0" "30" "2" "25384493" "25384493" "subst" "0.000662936" "02325" "EFR3B_000006" "g.25384493G>T" "" "" "" "POMC(NM_001035256.3):c.261C>A (p.F87L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25161624G>T" "" "likely benign" "" "0000515437" "0" "10" "2" "25384596" "25384596" "subst" "0.000892901" "02326" "POMC_000012" "g.25384596T>C" "" "" "" "POMC(NM_001035256.2):c.158A>G (p.D53G), POMC(NM_001035256.3):c.158A>G (p.D53G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25161727T>C" "" "benign" "" "0000515438" "0" "50" "2" "25384596" "25384596" "subst" "0.000892901" "02329" "POMC_000012" "g.25384596T>C" "" "" "" "POMC(NM_001035256.2):c.158A>G (p.D53G), POMC(NM_001035256.3):c.158A>G (p.D53G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25161727T>C" "" "VUS" "" "0000650529" "1" "50" "2" "25384048" "25384048" "subst" "0.0026246" "03575" "POMC_000001" "g.25384048G>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs28932472}" "Germline" "" "rs28932472" "0" "" "" "g.25161179G>C" "" "VUS" "" "0000650530" "1" "50" "2" "25384324" "25384324" "subst" "0.00018027" "03575" "POMC_000004" "g.25384324A>G" "3/2785 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs201408477}" "Germline" "" "rs201408477" "0" "" "" "g.25161455A>G" "" "VUS" "" "0000667560" "3" "90" "2" "25387621" "25387622" "ins" "0" "00006" "POMC_000014" "g.25387621_25387622insN[25]" "" "{PMID:Helbig 2016:26795593}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000718685" "0" "30" "2" "25383953" "25383953" "subst" "3.2519E-5" "02330" "EFR3B_000007" "g.25383953C>T" "" "" "" "POMC(NM_001035256.3):c.801G>A (p.E267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718686" "0" "90" "2" "25384048" "25384048" "subst" "0.0026246" "02330" "POMC_000001" "g.25384048G>C" "" "" "" "POMC(NM_001035256.2):c.706C>G (p.R236G), POMC(NM_001035256.3):c.706C>G (p.R236G), POMC(NM_001319204.2):c.706C>G (p.R236G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718687" "0" "50" "2" "25384092" "25384092" "subst" "0.000852011" "02330" "EFR3B_000008" "g.25384092T>C" "" "" "" "POMC(NM_001035256.3):c.662A>G (p.Y221C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718688" "0" "30" "2" "25384129" "25384129" "subst" "0" "02330" "EFR3B_000009" "g.25384129G>C" "" "" "" "POMC(NM_001035256.3):c.625C>G (p.L209V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718689" "0" "50" "2" "25384300" "25384300" "subst" "0" "02330" "EFR3B_000010" "g.25384300T>C" "" "" "" "POMC(NM_001035256.3):c.454A>G (p.K152E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718690" "0" "50" "2" "25384324" "25384324" "subst" "0.00018027" "02330" "POMC_000004" "g.25384324A>G" "" "" "" "POMC(NM_001035256.2):c.430T>C (p.F144L), POMC(NM_001035256.3):c.430T>C (p.F144L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718691" "0" "30" "2" "25384360" "25384360" "subst" "0.00105885" "02330" "POMC_000005" "g.25384360G>C" "" "" "" "POMC(NM_001035256.2):c.394C>G (p.P132A), POMC(NM_001035256.3):c.394C>G (p.P132A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718692" "0" "10" "2" "25384408" "25384408" "subst" "0.00260664" "02330" "POMC_000007" "g.25384408G>A" "" "" "" "POMC(NM_001035256.3):c.346C>T (p.L116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718693" "0" "30" "2" "25384459" "25384476" "dup" "0" "02330" "EFR3B_000004" "g.25384459_25384476dup" "" "" "" "POMC(NM_001035256.3):c.280_297dupAGCAGCGGCAGCAGCGGC (p.S94_G99dup), POMC(NM_001319204.2):c.280_297dupAGCAGCGGCAGCAGCGGC (p.S94_G99dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718694" "0" "50" "2" "25384468" "25384476" "del" "0" "02330" "EFR3B_000011" "g.25384468_25384476del" "" "" "" "POMC(NM_001035256.3):c.289_297delAGCAGCGGC (p.S97_G99del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718695" "0" "10" "2" "25384476" "25384477" "ins" "0" "02330" "EFR3B_000012" "g.25384476_25384477insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC" "" "" "" "POMC(NM_001035256.3):c.297_298ins72 (p.G99_A100ins24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718696" "0" "50" "2" "25384596" "25384596" "subst" "0.000892901" "02330" "POMC_000012" "g.25384596T>C" "" "" "" "POMC(NM_001035256.2):c.158A>G (p.D53G), POMC(NM_001035256.3):c.158A>G (p.D53G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718697" "0" "10" "2" "25387606" "25387606" "subst" "0" "02330" "POMC_000015" "g.25387606C>T" "" "" "" "POMC(NM_001035256.3):c.36G>A (p.L12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718698" "0" "10" "2" "25387624" "25387624" "subst" "0.00574306" "02330" "POMC_000013" "g.25387624G>A" "" "" "" "POMC(NM_001035256.3):c.18C>T (p.C6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000800535" "0" "30" "2" "25384171" "25384171" "subst" "0.000503135" "02330" "EFR3B_000013" "g.25384171C>T" "" "" "" "POMC(NM_001035256.2):c.583G>A (p.A195T), POMC(NM_001035256.3):c.583G>A (p.A195T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800536" "0" "70" "2" "25384184" "25384184" "del" "0" "02330" "EFR3B_000014" "g.25384184del" "" "" "" "POMC(NM_001035256.3):c.573delC (p.D192Tfs*50)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000800537" "0" "70" "2" "25384503" "25384503" "subst" "6.91869E-6" "02330" "EFR3B_000015" "g.25384503C>T" "" "" "" "POMC(NM_001035256.3):c.251G>A (p.W84*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000800538" "0" "50" "2" "25384618" "25384618" "subst" "0" "01943" "EFR3B_000016" "g.25384618A>G" "" "" "" "POMC(NM_001319204.1):c.136T>C (p.C46R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000832858" "11" "90" "2" "25384441" "25384441" "subst" "0" "00006" "POMC_000016" "g.25384441C>A" "" "{PMID:Krude 1998:9620771}" "" "7013G>T" "" "Germline" "yes" "" "0" "" "" "g.25161572C>A" "" "pathogenic (recessive)" "" "0000832859" "21" "90" "2" "25384322" "25384322" "del" "0" "00006" "POMC_000017" "g.25384322del" "" "{PMID:Krude 1998:9620771}" "" "7133delC" "" "Germline" "yes" "" "0" "" "" "g.25161453del" "" "pathogenic (recessive)" "" "0000832861" "3" "90" "2" "25387652" "25387652" "subst" "2.03892E-5" "00006" "POMC_000018" "g.25387652G>T" "" "{PMID:Krude 1998:9620771}" "" "3804C>A" "creates upstream translation initiation site, only trace amounts of protein produced" "Germline" "" "rs753856820" "0" "" "" "g.25164783G>T" "" "pathogenic (recessive)" "" "0000832864" "11" "90" "2" "25384603" "25384603" "subst" "0" "00006" "POMC_000019" "g.25384603T>A" "" "{PMID:Krude 2003:14557433}" "" "A6851T" "" "Germline" "" "rs121918112" "0" "" "" "g.25161734T>A" "" "pathogenic (recessive)" "" "0000832865" "21" "90" "2" "25384459" "25384459" "del" "0" "00006" "POMC_000020" "g.25384459del" "" "{PMID:Krude 2003:14557433}" "" "6996del" "" "Germline" "" "" "0" "" "" "g.25161590del" "" "pathogenic (recessive)" "" "0000832866" "3" "90" "2" "25387652" "25387652" "subst" "2.03892E-5" "00006" "POMC_000018" "g.25387652G>T" "" "{PMID:Krude 2003:14557433}" "" "3804C>A" "" "Germline" "" "rs753856820" "0" "" "" "g.25164783G>T" "" "pathogenic (recessive)" "" "0000832867" "21" "90" "2" "25387652" "25387652" "subst" "2.03892E-5" "00006" "POMC_000018" "g.25387652G>T" "" "{PMID:Krude 2003:14557433}" "" "C3804A" "" "Germline" "" "rs753856820" "0" "" "" "g.25164783G>T" "" "pathogenic (recessive)" "" "0000832868" "11" "90" "2" "25384351" "25384352" "dup" "0" "00006" "POMC_000021" "g.25384351_25384352dup" "" "{PMID:Krude 2003:14557433}" "" "7100ins2G" "" "Germline" "" "rs796065035" "0" "" "" "g.25161482_25161483dup" "" "pathogenic (recessive)" "" "0000832870" "1" "90" "2" "25384048" "25384048" "subst" "0.0026246" "00006" "POMC_000001" "g.25384048G>C" "2/262 cases obesity" "{PMID:Challis 2002:12165561}" "" "" "variant disrupts dibasic cleavage site between beta melanocyte-stimulating hormone and beta-endorphin" "Germline" "" "" "0" "" "" "g.25161179G>C" "" "association" "" "0000832872" "1" "90" "2" "25384048" "25384048" "subst" "0.0026246" "00006" "POMC_000001" "g.25384048G>C" "2/262 cases obesity" "{PMID:Challis 2002:12165561}" "" "" "variant disrupts dibasic cleavage site between beta melanocyte-stimulating hormone and beta-endorphin" "Germline" "" "" "0" "" "" "g.25161179G>C" "" "association" "" "0000832873" "1" "30" "2" "25384472" "25384472" "subst" "0.052849" "00006" "POMC_000009" "g.25384472G>A" "" "{PMID:Challis 2002:12165561}" "" "C7659T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000832874" "1" "30" "2" "25384408" "25384408" "subst" "0.00260664" "00006" "POMC_000007" "g.25384408G>A" "" "{PMID:Challis 2002:12165561}" "" "C7726T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000832875" "1" "30" "2" "25384169" "25384169" "subst" "0.0467778" "00006" "POMC_000022" "g.25384169G>A" "" "{PMID:Challis 2002:12165561}" "" "C7965T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000832876" "1" "50" "2" "25384477" "25384477" "subst" "6.14637E-5" "00006" "POMC_000023" "g.25384477T>C" "" "{PMID:Challis 2002:12165561}" "" "A7654G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000832877" "0" "50" "2" "25384113" "25384113" "subst" "0.0054643" "00006" "POMC_000002" "g.25384113T>C" "" "{PMID:Challis 2002:12165561}" "" "A8021G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000832878" "1" "50" "2" "25384468" "25384476" "dup" "0" "00006" "EFR3B_000005" "g.25384468_25384476dup" "" "{PMID:Challis 2002:12165561}" "" "insAGCAGCCGC" "" "Germline" "" "" "0" "" "" "g.25161599_25161607dup" "" "VUS" "" "0000832879" "1" "30" "2" "25383922" "25383922" "del" "0.000885187" "00006" "POMC_000024" "g.25383922del" "" "{PMID:Challis 2002:12165561}" "" "delT8211" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000832880" "0" "30" "2" "25383887" "25383887" "subst" "0" "00006" "POMC_000025" "g.25383887G>A" "" "{PMID:Challis 2002:12165561}" "" "C8246T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000832882" "3" "90" "2" "25384535" "25384535" "dup" "0" "00006" "POMC_000026" "g.25384535dup" "" "{PMID:Clement 2008:18765507}" "" "6922insC" "" "Germline" "" "" "0" "" "" "g.25161666dup" "" "pathogenic (recessive)" "" "0000885096" "0" "30" "2" "25384152" "25384152" "subst" "3.37912E-5" "02330" "POMC_000003" "g.25384152G>A" "" "" "" "POMC(NM_001035256.2):c.602C>T (p.A201V), POMC(NM_001035256.3):c.602C>T (p.A201V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885097" "0" "30" "2" "25384256" "25384256" "subst" "3.03411E-5" "02330" "EFR3B_000017" "g.25384256G>A" "" "" "" "POMC(NM_001319204.2):c.498C>T (p.D166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885098" "0" "50" "2" "25384593" "25384593" "subst" "0" "02330" "EFR3B_000018" "g.25384593A>G" "" "" "" "POMC(NM_001035256.3):c.161T>C (p.L54P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933935" "3" "90" "2" "25391366" "25391366" "subst" "0" "00006" "POMC_000027" "g.25391366C>T" "" "{PMID:Shchagina 2023:37569734}" "" "NM_001035256.1:c.-71+1G>A" "" "Germline" "yes" "" "0" "" "" "g.25168497C>T" "" "pathogenic (recessive)" "" "0000933938" "3" "90" "2" "25391366" "25391366" "subst" "0" "00006" "POMC_000027" "g.25391366C>T" "" "{PMID:Shchagina 2023:37569734}" "" "NM_001035256.1:c.-71+1G>A" "" "Germline" "yes" "" "0" "" "" "g.25168497C>T" "" "pathogenic (recessive)" "" "0000947817" "0" "30" "2" "25384457" "25384457" "subst" "8.6188E-5" "02325" "EFR3B_000019" "g.25384457G>T" "" "" "" "POMC(NM_001035256.3):c.297C>A (p.G99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992757" "0" "50" "2" "25384076" "25384076" "subst" "4.07272E-6" "01804" "EFR3B_000020" "g.25384076G>T" "" "" "" "POMC(NM_001035256.1):c.678C>A (p.(Phe226Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024562" "0" "30" "2" "25384171" "25384171" "subst" "0.000503135" "02326" "EFR3B_000013" "g.25384171C>T" "" "" "" "POMC(NM_001035256.2):c.583G>A (p.A195T), POMC(NM_001035256.3):c.583G>A (p.A195T)" "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 POMC ## Count = 65 "{{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}}" "0000252382" "00025679" "70" "430" "0" "430" "0" "c.430T>C" "r.(?)" "p.(Phe144Leu)" "" "0000301128" "00025679" "30" "167" "0" "167" "0" "c.167C>A" "r.(?)" "p.(Ala56Asp)" "" "0000301130" "00025679" "30" "255" "0" "255" "0" "c.255C>G" "r.(?)" "p.(Asp85Glu)" "" "0000301131" "00025679" "10" "282" "0" "282" "0" "c.282C>T" "r.(?)" "p.(Ser94=)" "" "0000301133" "00025679" "30" "366" "0" "366" "0" "c.366G>C" "r.(?)" "p.(Glu122Asp)" "" "0000301134" "00025679" "30" "394" "0" "394" "0" "c.394C>G" "r.(?)" "p.(Pro132Ala)" "" "0000301135" "00025679" "30" "602" "0" "602" "0" "c.602C>T" "r.(?)" "p.(Ala201Val)" "" "0000301136" "00025679" "30" "641" "0" "641" "0" "c.641A>G" "r.(?)" "p.(Glu214Gly)" "" "0000301137" "00025679" "90" "706" "0" "706" "0" "c.706C>G" "r.(?)" "p.(Arg236Gly)" "" "0000515431" "00025679" "90" "706" "0" "706" "0" "c.706C>G" "r.(?)" "p.(Arg236Gly)" "" "0000515432" "00025679" "50" "457" "0" "459" "0" "c.457_459del" "r.(?)" "p.(Lys153del)" "" "0000515433" "00025679" "50" "398" "0" "398" "0" "c.398G>C" "r.(?)" "p.(Arg133Pro)" "" "0000515434" "00025679" "50" "280" "0" "297" "0" "c.280_297dup" "r.(?)" "p.(Ser94_Gly99dup)" "" "0000515435" "00025679" "10" "289" "0" "297" "0" "c.289_297dup" "r.(?)" "p.(Ser97_Gly99dup)" "" "0000515436" "00025679" "30" "261" "0" "261" "0" "c.261C>A" "r.(?)" "p.(Phe87Leu)" "" "0000515437" "00025679" "10" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(Asp53Gly)" "" "0000515438" "00025679" "50" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(Asp53Gly)" "" "0000650529" "00025679" "50" "706" "0" "706" "0" "c.706C>G" "r.(?)" "p.(Arg236Gly)" "" "0000650530" "00025679" "50" "430" "0" "430" "0" "c.430T>C" "r.(?)" "p.(Phe144Leu)" "" "0000667560" "00025679" "90" "20" "0" "21" "0" "c.20_21insN[25]" "r.(?)" "p.(Ser7Argfs*120)" "" "0000718685" "00025679" "30" "801" "0" "801" "0" "c.801G>A" "r.(?)" "p.(Glu267=)" "" "0000718686" "00025679" "90" "706" "0" "706" "0" "c.706C>G" "r.(?)" "p.(Arg236Gly)" "" "0000718687" "00025679" "50" "662" "0" "662" "0" "c.662A>G" "r.(?)" "p.(Tyr221Cys)" "" "0000718688" "00025679" "30" "625" "0" "625" "0" "c.625C>G" "r.(?)" "p.(Leu209Val)" "" "0000718689" "00025679" "50" "454" "0" "454" "0" "c.454A>G" "r.(?)" "p.(Lys152Glu)" "" "0000718690" "00025679" "50" "430" "0" "430" "0" "c.430T>C" "r.(?)" "p.(Phe144Leu)" "" "0000718691" "00025679" "30" "394" "0" "394" "0" "c.394C>G" "r.(?)" "p.(Pro132Ala)" "" "0000718692" "00025679" "10" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Leu116=)" "" "0000718693" "00025679" "30" "280" "0" "297" "0" "c.280_297dup" "r.(?)" "p.(Ser94_Gly99dup)" "" "0000718694" "00025679" "50" "289" "0" "297" "0" "c.289_297del" "r.(?)" "p.(Ser97_Gly99del)" "" "0000718695" "00025679" "10" "297" "0" "298" "0" "c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC" "r.(?)" "p.(Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)" "" "0000718696" "00025679" "50" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(Asp53Gly)" "" "0000718697" "00025679" "10" "36" "0" "36" "0" "c.36G>A" "r.(?)" "p.(Leu12=)" "" "0000718698" "00025679" "10" "18" "0" "18" "0" "c.18C>T" "r.(?)" "p.(Cys6=)" "" "0000800535" "00025679" "30" "583" "0" "583" "0" "c.583G>A" "r.(?)" "p.(Ala195Thr)" "" "0000800536" "00025679" "70" "573" "0" "573" "0" "c.573del" "r.(?)" "p.(Asp192Thrfs*50)" "" "0000800537" "00025679" "70" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Trp84*)" "" "0000800538" "00025679" "50" "136" "0" "136" "0" "c.136T>C" "r.(?)" "p.(Cys46Arg)" "" "0000832858" "00025679" "90" "313" "0" "313" "0" "c.313G>T" "r.(?)" "p.(Glu105*)" "" "0000832859" "00025679" "90" "433" "0" "433" "0" "c.433del" "r.(?)" "p.(Arg145Alafs*13)" "" "0000832861" "00025679" "90" "-11" "0" "-11" "0" "c.-11C>A" "r.(?)" "p.0" "" "0000832864" "00025679" "90" "151" "0" "151" "0" "c.151A>T" "r.(?)" "p.(Lys51*)" "" "0000832865" "00025679" "90" "296" "0" "296" "0" "c.296del" "r.(?)" "p.(Gly99Alafs*59)" "" "0000832866" "00025679" "90" "-11" "0" "-11" "0" "c.-11C>A" "r.(=)" "p.0?" "" "0000832867" "00025679" "90" "-11" "0" "-11" "0" "c.-11C>A" "r.(?)" "p.0?" "" "0000832868" "00025679" "90" "403" "0" "404" "0" "c.403_404dup" "r.(?)" "p.(Lys136Alafs*23)" "" "0000832870" "00025679" "90" "706" "0" "706" "0" "c.706C>G" "r.(?)" "p.(Arg236Gly)" "" "0000832872" "00025679" "90" "706" "0" "706" "0" "c.706C>G" "r.(?)" "p.(Arg236Gly)" "" "0000832873" "00025679" "30" "282" "0" "282" "0" "c.282C>T" "r.(?)" "p.(Ser94=)" "" "0000832874" "00025679" "30" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Leu116=)" "" "0000832875" "00025679" "30" "585" "0" "585" "0" "c.585C>T" "r.(?)" "p.(Ala195=)" "" "0000832876" "00025679" "50" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Ser93Gly)" "" "0000832877" "00025679" "50" "641" "0" "641" "0" "c.641A>G" "r.(?)" "p.(Glu214Gly)" "" "0000832878" "00025679" "50" "289" "0" "297" "0" "c.289_297dup" "r.(?)" "p.(Ser97_Gly99dup)" "" "0000832879" "00025679" "30" "832" "0" "832" "0" "c.*28del" "r.(?)" "p.(=)" "" "0000832880" "00025679" "30" "867" "0" "867" "0" "c.*63C>T" "r.(?)" "p.(=)" "" "0000832882" "00025679" "90" "223" "0" "223" "0" "c.223dup" "r.(?)" "p.(Arg75Profs*44)" "" "0000885096" "00025679" "30" "602" "0" "602" "0" "c.602C>T" "r.(?)" "p.(Ala201Val)" "" "0000885097" "00025679" "30" "498" "0" "498" "0" "c.498C>T" "r.(?)" "p.(Asp166=)" "" "0000885098" "00025679" "50" "161" "0" "161" "0" "c.161T>C" "r.(?)" "p.(Leu54Pro)" "" "0000933935" "00025679" "90" "-21" "1" "-21" "1" "c.-21+1G>A" "r.spl" "p.?" "1i" "0000933938" "00025679" "90" "-21" "1" "-21" "1" "c.-21+1G>A" "r.spl" "p.?" "1i" "0000947817" "00025679" "30" "297" "0" "297" "0" "c.297C>A" "r.(?)" "p.(=)" "" "0000992757" "00025679" "50" "678" "0" "678" "0" "c.678C>A" "r.(?)" "p.(Phe226Leu)" "" "0001024562" "00025679" "30" "583" "0" "583" "0" "c.583G>A" "r.(?)" "p.(Ala195Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000293840" "0000650529" "0000293841" "0000650530" "0000304162" "0000667560" "0000400094" "0000832858" "0000400094" "0000832859" "0000400097" "0000832861" "0000400099" "0000832864" "0000400099" "0000832865" "0000400100" "0000832866" "0000400101" "0000832867" "0000400101" "0000832868" "0000400102" "0000832870" "0000400104" "0000832872" "0000400105" "0000832873" "0000400106" "0000832874" "0000400107" "0000832875" "0000400108" "0000832876" "0000400109" "0000832877" "0000400110" "0000832878" "0000400111" "0000832879" "0000400112" "0000832880" "0000400114" "0000832882" "0000438315" "0000933935" "0000438318" "0000933938"