### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HAMP) # 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}}" "HAMP" "hepcidin antimicrobial peptide" "19" "q13.1" "unknown" "NG_011563.1" "UD_132119167423" "" "https://www.LOVD.nl/HAMP" "" "1" "15598" "57817" "606464" "1" "1" "1" "1" "databases from the FH UCL BHF" "" "g" "http://databases.lovd.nl/shared/refseq/HAMP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-09-08 15:19:11" "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}}" "00009137" "HAMP" "hepcidin antimicrobial peptide" "001" "NM_021175.2" "" "NP_066998.1" "" "" "" "-71" "356" "255" "35773410" "35776046" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "00411" "HFE1" "hemochromatosis, type 1 (HFE-1)" "AR" "235200" "" "" "" "00006" "2014-06-15 21:19:45" "00006" "2021-12-10 21:51:32" "03308" "HFE2B" "hemochromatosis, type 2B (HFE-2B)" "AR" "613313" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05278" "HFE" "hemochromatosis (HFE)" "" "" "" "" "" "00006" "2017-06-09 17:44:31" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HAMP" "03308" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00024942" "" "" "" "1" "" "01154" "{PMID:Island 2009:19286879}" "" "M" "" "France" "" "0" "" "" "" "" "00024943" "" "" "" "1" "" "01154" "{PMID:Matthes 2004:15198949}" "" "M" "" "Portugal" "" "0" "" "" "" "" "00024944" "" "" "" "1" "" "00557" "Delbini 2008, HumGenet online" "" "" "" "" "" "0" "" "" "" "" "00024945" "" "" "" "1" "" "00557" "{PMID:Andreani 2009:19734422}" "" "" "" "" "" "0" "" "" "" "" "00024946" "" "" "" "3" "" "00557" "{PMID:Biasiotto 2004:15528154}" "found in 3 individuals (incl. father/son)" "" "" "" "" "0" "" "" "" "" "00024947" "" "" "" "1" "" "01154" "{PMID:Lok 2009:19342478}" "" "M" "" "Pakistan" "" "0" "" "" "" "" "00024948" "" "" "" "1" "" "01154" "{PMID:Merryweather-Clarke 2003:12915468}" "digenic inheritance; 2-generation family, patient and unaffected carrier mother" "M" "" "" "" "0" "" "" "" "" "00024949" "" "" "" "1" "" "01154" "{PMID:Merryweather-Clarke 2003:12915468}" "unaffected carrier mother HFE p.(H63D)" "M" "" "" "" "0" "" "" "" "" "00024950" "" "" "" "2" "" "01154" "{PMID:Roetto 2003:12469120}" "" "" "" "" "" "0" "" "" "" "" "00024951" "" "" "" "1" "" "01154" "{PMID:Jacolot 2004:14670915}" "" "" "" "" "" "0" "" "" "" "" "00024952" "" "" "" "1" "" "01154" "{PMID:Roetto 2004:14630809}" "" "" "" "Italy" "" "0" "" "" "" "" "00024953" "" "" "" "1" "" "01154" "{PMID:Merryweather-Clarke 2003:12915468}" "2-generation family, heterozygous carrier father HFE:C282Y heterozygote, sister HFE:C282Y homozygote" "" "" "" "" "0" "" "" "" "" "00024954" "" "" "" "1" "" "01154" "{PMID:Hattori 2012:22297252}" "" "" "" "Japan" "" "0" "" "" "" "" "00024955" "" "" "" "1" "" "01154" "{PMID:Delatycki 2004:15099344}" "" "" "" "Israel" "" "0" "" "" "Middle Eastern" "" "00024956" "" "" "" "2" "" "01154" "{PMID:Roetto 2003:12469120}" "two affected sisters" "F" "" "" "" "0" "" "" "" "" "00104937" "" "" "" "1" "" "00006" "{PMID:Barton 2008:17726683}, {DOI:Barton 2008:10.1002/ajh.21053}" "" "F" "" "United States" "" "0" "" "" "native American;white" "17726683-Pat" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00024942" "00411" "00024943" "00411" "00024944" "00411" "00024945" "00198" "00024946" "00198" "00024947" "00411" "00024948" "00411" "00024949" "00411" "00024950" "00411" "00024951" "00411" "00024952" "00411" "00024953" "00411" "00024954" "00411" "00024955" "00411" "00024956" "00411" "00104937" "05278" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00411, 03308, 05278 ## Count = 16 "{{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}}" "0000021062" "00411" "00024942" "01154" "Unknown" "37y" "elevated hepatic iron (0012465) HII 12.2 umol Fe/g dry weight/year; venesection 85g Fe" "" "" "" "" "" "" "" "" "" "" "" "0000021063" "00411" "00024943" "01154" "Unknown" "29y" "hemochromatosis, juvenile; insulin-dependent diabetes mellitus; heart failure; hypogonadotropic hypogonadism; skin hyperpigmentation; elevated hepatic iron (0012465) venesection 12g Fe over 11months" "" "" "" "" "" "" "" "" "" "" "" "0000021064" "00411" "00024944" "00557" "Unknown" "" "hemochromatosis, juvenile" "" "" "" "" "" "" "" "" "" "" "" "0000021065" "00198" "00024945" "00557" "Unknown" "" "mean LIC and SF levels significantly higher" "" "" "" "" "" "" "" "" "" "" "" "0000021066" "00198" "00024946" "00557" "Unknown" "" "see paper; variable" "" "" "" "" "" "" "" "" "" "" "" "0000021067" "00411" "00024947" "01154" "Unknown" "" "hemochromatosis, juvenile; 21y-hypogonadotropic hypogonadism, gynecomastia; transferrin saturation >97%; increased liver enzyme activities normalised after venesection; elevated hepatic iron (0012465) serum ferritin 5686 ug/L, venesection of 12.5g Fe" "" "" "" "" "" "" "" "" "" "" "" "0000021068" "00411" "00024948" "01154" "Complex" "" "hemochromatosis, juvenile; 27y-congestive heart failure, hypogodanotropic hypogonadism, diabetes mellitus, fatigue and skin pigmentation, liver biopsy showed fibrosis; elevated hepatic iron (0012465) hepatic iron index 17.8 umol Fe/g dry wt/y, venesection removed 27g Fe over 4y" "" "" "" "" "" "" "" "" "" "" "" "0000021069" "00411" "00024949" "01154" "Complex" "86y" "hemochromatosis, juvenile; elevated hepatic iron (0012465) normal serum iron biochemistry." "" "" "" "" "" "" "" "" "" "" "" "0000021070" "00411" "00024950" "01154" "Unknown" "" "hemochromatosis, juvenile" "" "" "" "" "" "" "" "" "" "" "" "0000021071" "00411" "00024951" "01154" "Unknown" "" "elevated hepatic iron (0012465) venesection 14.6g Fe" "" "" "" "" "" "" "" "" "" "" "" "0000021072" "00411" "00024952" "01154" "Unknown" "" "hemochromatosis, juvenile" "" "" "" "" "" "" "" "" "" "" "" "0000021073" "00411" "00024953" "01154" "Unknown" "" "hemochromatosis; elevated hepatic iron (0012465) venesection 6g Fe" "" "" "" "" "" "" "" "" "" "" "" "0000021074" "00411" "00024954" "01154" "Unknown" "" "hemochromatosis, juvenile" "" "" "" "" "" "" "" "" "" "" "" "0000021075" "00411" "00024955" "01154" "Unknown" "" "hemochromatosis; elevated hepatic iron (0012465) venesection 20g Fe; HII 11.3 umol/g dry weight/year" "" "" "" "" "" "" "" "" "" "" "" "0000021076" "00411" "00024956" "01154" "Familial" "" "hemochromatosis, juvenile; severe iron overload with liver fibrosis or cirrhosis and hypogonadism" "" "" "" "" "" "" "" "" "" "" "" "0000082834" "05278" "00104937" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000024945" "00024942" "1" "01154" "01154" "2012-08-13 17:52:38" "00557" "2013-10-31 15:23:31" "SEQ" "DNA" "" "" "0000024946" "00024943" "1" "01154" "01154" "2012-08-13 19:18:05" "00557" "2013-11-25 18:06:31" "SEQ" "DNA" "" "" "0000024947" "00024944" "1" "00006" "00006" "2014-11-26 09:30:35" "" "" "SEQ" "DNA" "" "" "0000024948" "00024945" "1" "00006" "00006" "2014-11-26 09:30:35" "" "" "SEQ" "DNA" "" "" "0000024949" "00024946" "1" "00006" "00006" "2014-11-26 09:30:35" "" "" "SEQ" "DNA" "" "" "0000024950" "00024947" "1" "01154" "01154" "2012-08-13 20:43:17" "00557" "2013-11-21 19:37:34" "DHPLC;SEQ" "DNA" "" "" "0000024951" "00024948" "1" "01154" "01154" "2012-08-13 21:09:20" "00557" "2013-11-21 21:04:31" "DHPLC;SEQ" "DNA" "" "" "0000024952" "00024949" "1" "01154" "01154" "2012-08-13 21:09:20" "00557" "2013-11-21 21:04:31" "DHPLC;SEQ" "DNA" "" "" "0000024953" "00024950" "1" "01154" "01154" "2012-08-13 21:32:09" "00557" "2013-11-21 19:49:32" "SEQ" "DNA" "" "" "0000024954" "00024951" "1" "01154" "01154" "2012-08-13 21:53:38" "00557" "2013-11-21 20:02:28" "DHPLC;SEQ" "DNA" "" "" "0000024955" "00024952" "1" "01154" "01154" "2012-08-13 22:15:15" "00557" "2013-11-22 12:33:43" "PCRdig;SEQ" "DNA" "" "" "0000024956" "00024953" "1" "01154" "01154" "2012-08-13 22:38:51" "00557" "2013-11-22 12:44:36" "PCRdig;SEQ" "DNA" "" "" "0000024957" "00024954" "1" "01154" "01154" "2012-08-13 22:51:42" "00557" "2013-11-21 20:23:05" "SEQ" "DNA" "" "" "0000024958" "00024955" "1" "01154" "01154" "2012-08-13 23:14:36" "00557" "2013-11-22 13:08:05" "SEQ" "DNA" "" "" "0000024959" "00024956" "1" "01154" "01154" "2012-08-13 20:23:15" "00557" "2013-10-31 15:37:05" "SEQ" "DNA" "" "" "0000105409" "00104937" "1" "00006" "00006" "2017-06-11 10:45:02" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{geneid}}" "0000024945" "HAMP" "0000024945" "HFE" "0000024946" "HAMP" "0000024946" "HFE" "0000024947" "HAMP" "0000024948" "HAMP" "0000024949" "HAMP" "0000024949" "HFE" "0000024950" "HAMP" "0000024951" "HAMP" "0000024951" "HFE" "0000024952" "HAMP" "0000024952" "HFE" "0000024953" "HAMP" "0000024954" "HAMP" "0000024954" "HFE" "0000024955" "HAMP" "0000024956" "HAMP" "0000024956" "HFE" "0000024957" "HAMP" "0000024958" "HAMP" "0000024959" "HAMP" "0000105409" "HAMP" "0000105409" "TFR2" ## 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 = 24 "{{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}}" "0000047752" "0" "77" "19" "35773328" "35773328" "subst" "0" "01154" "HAMP_000001" "g.35773328C>T" "" "{PMID:Island 2009:19286879}" "-BgII;-HaeII" "nc.-153C>T" "decreases transcriptional activity promoter, alters IL6 total responsiveness, prevents binding SMAD protein complex to BPM-RE" "Unknown" "" "" "0" "" "" "g.35282425C>T" "" "likely pathogenic" "" "0000047753" "3" "77" "19" "35773456" "35773456" "subst" "0" "01154" "HAMP_000002" "g.35773456G>A" "" "{PMID:Matthes 2004:15198949}" "+BsrDI;-TspRI" "5\'UTR" "creates new initiation codon in context of Kozak sequence" "Unknown" "" "" "0" "" "" "g.35282553G>A" "" "likely pathogenic" "" "0000047754" "0" "70" "19" "35773453" "35773453" "subst" "0" "00006" "HAMP_000012" "g.35773453G>T" "" "Delbini 2008, HumGenet online" "" "" "" "Unknown" "" "" "0" "" "" "g.35282550G>T" "" "likely pathogenic" "" "0000047755" "0" "70" "19" "35772899" "35772899" "subst" "0" "00006" "HAMP_000013" "g.35772899A>G" "" "{PMID:Andreani 2009:19734422}" "" "" "" "Unknown" "" "rs10421768" "0" "" "" "g.35281996A>G" "" "likely pathogenic" "" "0000047756" "0" "70" "19" "35773409" "35773409" "subst" "0" "00006" "HAMP_000014" "g.35773409C>T" "" "{PMID:Biasiotto 2004:15528154}" "" "" "" "Unknown" "" "" "0" "" "" "g.35282506C>T" "" "likely pathogenic" "" "0000047757" "3" "99" "19" "35775727" "35775728" "del" "0" "01154" "HAMP_000004" "g.35775727_35775728del" "" "{PMID:Lok 2009:19342478}" "-XcmI" "126-127delAG" "" "Unknown" "" "" "0" "" "" "g.35284824_35284825del" "" "pathogenic" "" "0000047758" "21" "77" "19" "35775749" "35775752" "del" "0" "01154" "HAMP_000005" "g.35775749_35775752del" "" "{PMID:Merryweather-Clarke 2003:12915468}" "-BstF5I" "ATGG deletion Met50del IVS2+1(-G)" "digenic" "Germline" "" "" "0" "" "" "g.35284846_35284849del" "" "likely pathogenic" "" "0000047759" "0" "77" "19" "35775749" "35775752" "del" "0" "01154" "HAMP_000005" "g.35775749_35775752del" "" "{PMID:Merryweather-Clarke 2003:12915468}" "-BstF5I" "ATGG deletion Met50del IVS2+1(-G)" "digenic" "Germline" "" "" "0" "" "" "g.35284846_35284849del" "" "likely pathogenic" "" "0000047760" "3" "99" "19" "35775856" "35775856" "subst" "0" "01154" "HAMP_000006" "g.35775856C>T" "" "{PMID:Roetto 2003:12469120}" "+HphI;-MwoI" "" "" "Unknown" "" "" "0" "" "" "g.35284953C>T" "" "pathogenic" "" "0000047761" "0" "77" "19" "35775865" "35775865" "subst" "8.93358E-5" "01154" "HAMP_000007" "g.35775865C>G" "" "{PMID:Jacolot 2004:14670915}" "-MwoI" "" "" "Unknown" "" "" "0" "" "" "g.35284962C>G" "" "likely pathogenic" "" "0000047762" "0" "55" "19" "35775898" "35775898" "subst" "0" "01154" "HAMP_000008" "g.35775898T>C" "" "{PMID:Roetto 2004:14630809}" "+SacII" "" "" "Unknown" "" "" "0" "" "" "g.35284995T>C" "" "VUS" "" "0000047763" "11" "55" "19" "35775902" "35775902" "subst" "0.00168518" "01154" "HAMP_000009" "g.35775902G>A" "" "{PMID:Merryweather-Clarke 2003:12915468}" "+PshAI;-AciI" "" "" "Unknown" "" "" "0" "" "" "g.35284999G>A" "" "VUS" "" "0000047764" "0" "55" "19" "35775913" "35775913" "subst" "2.03037E-5" "01154" "HAMP_000010" "g.35775913C>T" "" "{PMID:Hattori 2012:22297252}" "+BclI;-TaqI" "" "" "Unknown" "" "" "0" "" "" "g.35285010C>T" "" "VUS" "" "0000047765" "0" "55" "19" "35775923" "35775923" "subst" "0" "01154" "HAMP_000011" "g.35775923G>A" "" "{PMID:Delatycki 2004:15099344}" "" "" "" "Unknown" "" "" "0" "" "" "g.35285020G>A" "" "VUS" "" "0000047766" "3" "99" "19" "35775696" "35775696" "del" "0" "01154" "HAMP_000003" "g.35775696del" "" "{PMID:Roetto 2003:12469120}" "-BsmFI" "" "" "Germline" "" "" "0" "" "" "g.35284793del" "" "pathogenic" "" "0000170828" "0" "70" "19" "35773038" "35773038" "subst" "0" "00006" "HAMP_000015" "g.35773038C>T" "" "{PMID:Barton 2008:17726683}, {DOI:Barton 2008:10.1002/ajh.21053}" "" "" "" "Germline" "" "" "0" "" "" "g.35282135C>T" "" "likely pathogenic" "" "0000281226" "0" "30" "19" "35775902" "35775902" "subst" "0.00168518" "02325" "HAMP_000009" "g.35775902G>A" "" "" "" "HAMP(NM_021175.3):c.212G>A (p.G71D), HAMP(NM_021175.4):c.212G>A (p.G71D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35284999G>A" "" "likely benign" "" "0000566943" "0" "30" "19" "35775758" "35775758" "subst" "0.00151479" "02327" "HAMP_000016" "g.35775758G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35284855G>A" "" "likely benign" "" "0000566944" "0" "50" "19" "35775913" "35775913" "subst" "8.1215E-6" "02327" "HAMP_000017" "g.35775913C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35285010C>G" "" "VUS" "" "0000727265" "0" "30" "19" "35775902" "35775902" "subst" "0.00168518" "01943" "HAMP_000009" "g.35775902G>A" "" "" "" "HAMP(NM_021175.3):c.212G>A (p.G71D), HAMP(NM_021175.4):c.212G>A (p.G71D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808819" "0" "50" "19" "35775902" "35775902" "subst" "0.00168518" "02327" "HAMP_000009" "g.35775902G>A" "" "" "" "HAMP(NM_021175.3):c.212G>A (p.G71D), HAMP(NM_021175.4):c.212G>A (p.G71D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983382" "0" "50" "19" "35775756" "35775756" "subst" "0" "02327" "HAMP_000018" "g.35775756G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004627" "0" "30" "19" "35775846" "35775846" "subst" "4.06072E-6" "02327" "HAMP_000019" "g.35775846G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027210" "0" "70" "19" "35773409" "35773409" "subst" "0" "02327" "HAMP_000014" "g.35773409C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 HAMP ## Count = 24 "{{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}}" "0000047752" "00009137" "77" "-153" "0" "-153" "0" "c.-153C>T" "r.(=)" "p.(=)" "_1" "0000047753" "00009137" "77" "-25" "0" "-25" "0" "c.-25G>A" "r.(?)" "p.(=)" "1" "0000047754" "00009137" "70" "-28" "0" "-28" "0" "c.-28G>T" "r.(?)" "p.(=)" "1" "0000047755" "00009137" "70" "-582" "0" "-582" "0" "c.-582A>G" "r.(=)" "p.(=)" "_1" "0000047756" "00009137" "70" "-72" "0" "-72" "0" "c.-72C>T" "r.(=)" "p.(=)" "_1" "0000047757" "00009137" "99" "126" "0" "127" "0" "c.126_127del" "r.(?)" "p.(Arg42Serfs*78)" "2" "0000047758" "00009137" "77" "148" "0" "150" "1" "c.148_150+1del" "r.spl" "p.?" "2_2i" "0000047759" "00009137" "77" "148" "0" "150" "1" "c.148_150+1del" "r.spl" "p.?" "2_2i" "0000047760" "00009137" "99" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56*)" "3" "0000047761" "00009137" "77" "175" "0" "175" "0" "c.175C>G" "r.(?)" "p.(Arg59Gly)" "3" "0000047762" "00009137" "55" "208" "0" "208" "0" "c.208T>C" "r.(?)" "p.(Cys70Arg)" "3" "0000047763" "00009137" "55" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Gly71Asp)" "3" "0000047764" "00009137" "55" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75*)" "3" "0000047765" "00009137" "55" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "3" "0000047766" "00009137" "99" "95" "0" "95" "0" "c.95del" "r.(?)" "p.(Gly32AspfsTer?)" "2" "0000170828" "00009137" "70" "-443" "0" "-443" "0" "c.-443C>T" "r.(=)" "p.(=)" "_1" "0000281226" "00009137" "30" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Gly71Asp)" "" "0000566943" "00009137" "30" "150" "7" "150" "7" "c.150+7G>A" "r.(=)" "p.(=)" "" "0000566944" "00009137" "50" "223" "0" "223" "0" "c.223C>G" "r.(?)" "p.(Arg75Gly)" "" "0000727265" "00009137" "30" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Gly71Asp)" "" "0000808819" "00009137" "50" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Gly71Asp)" "" "0000983382" "00009137" "50" "150" "5" "150" "5" "c.150+5G>A" "r.spl?" "p.?" "" "0001004627" "00009137" "30" "156" "0" "156" "0" "c.156G>A" "r.(?)" "p.(Met52Ile)" "" "0001027210" "00009137" "70" "-72" "0" "-72" "0" "c.-72C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000024945" "0000047752" "0000024946" "0000047753" "0000024947" "0000047754" "0000024948" "0000047755" "0000024949" "0000047756" "0000024950" "0000047757" "0000024951" "0000047758" "0000024952" "0000047759" "0000024953" "0000047760" "0000024954" "0000047761" "0000024955" "0000047762" "0000024956" "0000047763" "0000024957" "0000047764" "0000024958" "0000047765" "0000024959" "0000047766" "0000105409" "0000170828"