### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MME) # 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}}" "MME" "membrane metallo-endopeptidase" "3" "q25.2" "unknown" "NC_000003.11" "UD_132939731279" "" "https://www.LOVD.nl/MME" "" "1" "7154" "4311" "120520" "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/MME_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-09-29 13:22:39" "00000" "2025-09-05 13:18:03" ## 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}}" "00025741" "MME" "transcript variant 2b" "004" "NM_007289.2" "" "NP_009220.2" "" "" "" "-187" "5523" "2253" "154798079" "154901518" "00006" "2022-09-29 13:20:01" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02200" "AEACEI" "Angioedema induced by ACE inhibitors, susceptibility to" "" "300909" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04580" "MBNP" "glomerulonephritis, membranous, antenatal (MBNP)" "" "614692" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2015-12-08 23:53:05" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05157" "HMSN" "neuropathy, motor and sensory, hereditary (HMSN)" "" "" "" "" "" "00006" "2016-04-15 10:26:05" "" "" "06562" "CMT2T" "Charcot-Marie-Tooth disease, axonal, type 2T" "AD;AR" "617017" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06563" "SCA43" "?Spinocerebellar ataxia 43" "AD" "617018" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MME" "04580" "MME" "06562" "MME" "06563" ## Individuals ## Do not remove or alter this header ## ## Count = 36 "{{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}}" "00245888" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00314365" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00418460" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "3-generation family, 4 affected" "" "" "" "" "0" "" "" "" "FamMH-1Pat3" "00418461" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-1Pat6" "00418462" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-1Pat7" "00418463" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-1Pat9" "00418464" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-1Pat8" "00418465" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-1Pat4" "00418466" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "3-generation family, 4 affected" "" "" "" "" "0" "" "" "" "FamMH-2Pat5" "00418467" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-2Pat6" "00418468" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-2Pat7" "00418469" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "family, 3 affected" "" "" "" "" "0" "" "" "" "FamMH-3" "00418470" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-3" "00418471" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-3" "00418472" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-4" "00418473" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-5" "00418474" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "3-generation family, 3 affected carriers, 4 asymptomatic carriers" "" "" "" "" "0" "" "" "" "FamMH-6Pat4" "00418475" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-6Pat2" "00418476" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-6Pat7" "00418477" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-6Pat5" "00418478" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-6Pat9" "00418479" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-6Pat8" "00418480" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-6Pat10" "00418481" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-7" "00418482" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-8" "00418483" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-9" "00418484" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-10" "00418485" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-11" "00418486" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-12" "00418487" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-13" "00418488" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "2-generation family, 3 affected" "" "" "" "" "0" "" "" "" "FamMH-14Pat3" "00418489" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-15" "00418490" "" "" "" "1" "" "00006" "{PMID:Hoyer 2022:35318247}" "" "" "" "" "" "0" "" "" "" "FamMH-16" "00434443" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00434901" "" "" "" "1" "" "03256" "{DOI:Pare 2013:10.1097/FPC.0b013e328363c137}" "Patient cohort presenting with AEACEI: iatrogenic angioedema induced by ACEi" "" "" "United States" "" "0" "" "" "" "" "00435111" "" "" "" "1" "" "01741" "" "" "?" "" "Germany" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 36 "{{individualid}}" "{{diseaseid}}" "00245888" "00198" "00314365" "05126" "00418460" "05113" "00418461" "05113" "00418462" "05113" "00418463" "05113" "00418464" "00000" "00418465" "00000" "00418466" "05113" "00418467" "05113" "00418468" "05113" "00418469" "05113" "00418470" "05113" "00418471" "05113" "00418472" "05113" "00418473" "05113" "00418474" "05113" "00418475" "05113" "00418476" "05113" "00418477" "05113" "00418478" "05113" "00418479" "05113" "00418480" "05113" "00418481" "05113" "00418482" "05113" "00418483" "05113" "00418484" "05113" "00418485" "05113" "00418486" "05113" "00418487" "05113" "00418488" "05113" "00418489" "05113" "00418490" "05113" "00434443" "05157" "00434901" "02200" "00435111" "05157" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 02200, 04580, 05113, 05126, 05157, 06562, 06563 ## Count = 32 "{{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}}" "0000185724" "00198" "00245888" "01807" "Unknown" "" "Spastic paraplegia (HP:0001258); Sensory axonal neuropathy (HP:0003390)" "" "" "" "" "" "" "" "" "" "" "" "0000309813" "05113" "00418460" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309814" "05113" "00418461" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309815" "05113" "00418462" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309816" "05113" "00418463" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309817" "05113" "00418466" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309818" "05113" "00418467" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309819" "05113" "00418468" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309820" "05113" "00418469" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309821" "05113" "00418470" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309822" "05113" "00418471" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309823" "05113" "00418472" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309824" "05113" "00418473" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309825" "05113" "00418474" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309826" "05113" "00418475" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309827" "05113" "00418476" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309828" "05113" "00418477" "00006" "Familial" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth syndrome" "" "0000309829" "05113" "00418478" "00006" "Familial" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth syndrome" "" "0000309830" "05113" "00418479" "00006" "Familial" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth syndrome" "" "0000309831" "05113" "00418480" "00006" "Familial" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth syndrome" "" "0000309832" "05113" "00418481" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309833" "05113" "00418482" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309834" "05113" "00418483" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309835" "05113" "00418484" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309836" "05113" "00418485" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309837" "05113" "00418486" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309838" "05113" "00418487" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309839" "05113" "00418488" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309840" "05113" "00418489" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000309841" "05113" "00418490" "00006" "Familial" "" "affected" "" "" "" "" "" "" "" "" "CMT2T" "Charcot-Marie-Tooth syndrome" "" "0000325147" "02200" "00434901" "03256" "Unknown" "" "Patients presenting with an ACEi angioedema phenotype" "" "" "" "" "" "" "" "" "" "" "" "0000325345" "05157" "00435111" "01741" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 36 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000247000" "00245888" "1" "01807" "01807" "2019-07-11 09:47:52" "" "" "SEQ" "DNA" "" "" "0000315538" "00314365" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419755" "00418460" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419756" "00418461" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419757" "00418462" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419758" "00418463" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419759" "00418464" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419760" "00418465" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419761" "00418466" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419762" "00418467" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419763" "00418468" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419764" "00418469" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419765" "00418470" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419766" "00418471" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419767" "00418472" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419768" "00418473" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419769" "00418474" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419770" "00418475" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419771" "00418476" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419772" "00418477" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419773" "00418478" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419774" "00418479" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419775" "00418480" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419776" "00418481" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419777" "00418482" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419778" "00418483" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419779" "00418484" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419780" "00418485" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419781" "00418486" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419782" "00418487" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419783" "00418488" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419784" "00418489" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000419785" "00418490" "1" "00006" "00006" "2022-09-29 14:15:17" "" "" "SEQ" "DNA" "" "" "0000435911" "00434443" "1" "01741" "01741" "2023-03-30 15:14:00" "" "" "SEQ-NG" "DNA" "" "" "0000436374" "00434901" "1" "03256" "03256" "2023-04-13 09:57:47" "" "" "SEQ-NG" "DNA" "blood" "" "0000436583" "00435111" "1" "01741" "01741" "2023-05-14 14:58:35" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{geneid}}" "0000315538" "MME" "0000419755" "MME" "0000419756" "MME" "0000419757" "MME" "0000419758" "MME" "0000419759" "MME" "0000419760" "MME" "0000419761" "MME" "0000419762" "MME" "0000419763" "MME" "0000419764" "MME" "0000419765" "MME" "0000419766" "MME" "0000419767" "MME" "0000419768" "MME" "0000419769" "MME" "0000419770" "MME" "0000419771" "MME" "0000419772" "MME" "0000419773" "MME" "0000419774" "MME" "0000419775" "MME" "0000419776" "MME" "0000419777" "MME" "0000419778" "MME" "0000419779" "MME" "0000419780" "MME" "0000419781" "MME" "0000419782" "MME" "0000419783" "MME" "0000419784" "MME" "0000419785" "MME" "0000435911" "MME" "0000436374" "MME" "0000436583" "HSPB1" ## 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 = 134 "{{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}}" "0000499840" "0" "70" "3" "154898173" "154898173" "del" "0" "01807" "MME_000001" "g.154898173del" "" "" "" "2178delT" "" "Unknown" "" "" "0" "" "" "g.155180384del" "" "likely pathogenic" "" "0000518323" "0" "10" "3" "154801978" "154801978" "subst" "0.0164127" "02330" "MME_000002" "g.154801978A>G" "" "" "" "MME(NM_007289.4):c.22A>G (p.M8V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155084189A>G" "" "benign" "" "0000518324" "0" "30" "3" "154802052" "154802052" "subst" "0.000194949" "01943" "MME_000003" "g.154802052G>A" "" "" "" "MME(NM_007289.3):c.96G>A (p.S32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155084263G>A" "" "likely benign" "" "0000518326" "0" "10" "3" "154802131" "154802131" "subst" "0.00587609" "02330" "MME_000005" "g.154802131C>T" "" "" "" "MME(NM_007289.4):c.160+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155084342C>T" "" "benign" "" "0000518327" "0" "10" "3" "154832768" "154832768" "subst" "0.0050746" "02330" "MME_000006" "g.154832768T>G" "" "" "" "MME(NM_007289.4):c.197-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155114979T>G" "" "benign" "" "0000518328" "0" "50" "3" "154832893" "154832893" "subst" "2.43752E-5" "02330" "MME_000007" "g.154832893C>T" "" "" "" "MME(NM_007289.3):c.307C>T (p.R103C), MME(NM_007289.4):c.307C>T (p.R103C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155115104C>T" "" "VUS" "" "0000518329" "0" "50" "3" "154832893" "154832893" "subst" "2.43752E-5" "01943" "MME_000007" "g.154832893C>T" "" "" "" "MME(NM_007289.3):c.307C>T (p.R103C), MME(NM_007289.4):c.307C>T (p.R103C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155115104C>T" "" "VUS" "" "0000518330" "0" "30" "3" "154859855" "154859855" "subst" "0.00188213" "02330" "MME_000008" "g.154859855G>A" "" "" "" "MME(NM_007289.3):c.1033G>A (p.V345I), MME(NM_007289.4):c.1033G>A (p.V345I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155142066G>A" "" "likely benign" "" "0000518331" "0" "30" "3" "154859855" "154859855" "subst" "0.00188213" "01943" "MME_000008" "g.154859855G>A" "" "" "" "MME(NM_007289.3):c.1033G>A (p.V345I), MME(NM_007289.4):c.1033G>A (p.V345I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155142066G>A" "" "likely benign" "" "0000518332" "0" "50" "3" "154859862" "154859862" "subst" "0.000520228" "02330" "MME_000009" "g.154859862A>G" "" "" "" "MME(NM_007289.3):c.1040A>G (p.Y347C), MME(NM_007289.4):c.1040A>G (p.Y347C, p.(Tyr347Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155142073A>G" "" "VUS" "" "0000518333" "0" "50" "3" "154859862" "154859862" "subst" "0.000520228" "02327" "MME_000009" "g.154859862A>G" "" "" "" "MME(NM_007289.3):c.1040A>G (p.Y347C), MME(NM_007289.4):c.1040A>G (p.Y347C, p.(Tyr347Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155142073A>G" "" "VUS" "" "0000518334" "0" "70" "3" "154859870" "154859871" "del" "0" "02330" "MME_000010" "g.154859870_154859871del" "" "" "" "MME(NM_007289.4):c.1048_1049delGA (p.E350Ifs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155142081_155142082del" "" "likely pathogenic" "" "0000518335" "0" "10" "3" "154861298" "154861298" "subst" "0.00111926" "02330" "MME_000011" "g.154861298A>C" "" "" "" "MME(NM_007289.4):c.1255A>C (p.M419L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155143509A>C" "" "benign" "" "0000518336" "0" "10" "3" "154866453" "154866453" "subst" "0.312987" "02330" "MME_000012" "g.154866453T>C" "" "" "" "MME(NM_007289.4):c.1601+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155148664T>C" "" "benign" "" "0000518337" "0" "10" "3" "154878159" "154878159" "del" "0.228343" "02330" "MME_000013" "g.154878159del" "" "" "" "MME(NM_007289.4):c.1602-20delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155160370del" "" "benign" "" "0000518338" "0" "50" "3" "154884795" "154884795" "subst" "0" "02327" "MME_000014" "g.154884795G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155167006G>A" "" "VUS" "" "0000518339" "0" "10" "3" "154886278" "154886278" "subst" "0.100484" "02330" "MME_000015" "g.154886278T>C" "" "" "" "MME(NM_007289.4):c.1781-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155168489T>C" "" "benign" "" "0000518340" "0" "30" "3" "154886421" "154886421" "subst" "0" "02330" "MME_000016" "g.154886421C>A" "" "" "" "MME(NM_007289.4):c.1914+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155168632C>A" "" "likely benign" "" "0000518341" "0" "10" "3" "154890381" "154890381" "subst" "0.00920225" "02330" "MME_000017" "g.154890381G>A" "" "" "" "MME(NM_007289.4):c.2133G>A (p.V711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155172592G>A" "" "benign" "" "0000518342" "0" "50" "3" "154898202" "154898202" "subst" "2.03578E-5" "02330" "MME_000018" "g.154898202G>T" "" "" "" "MME(NM_007289.4):c.2207G>T (p.R736L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155180413G>T" "" "VUS" "" "0000608382" "0" "30" "3" "154832779" "154832779" "subst" "0.00117426" "02330" "MME_000021" "g.154832779G>C" "" "" "" "MME(NM_007289.4):c.197-4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155114990G>C" "" "likely benign" "" "0000608383" "0" "50" "3" "154834458" "154834458" "subst" "0.000171163" "01943" "MME_000022" "g.154834458A>G" "" "" "" "MME(NM_007289.3):c.445A>G (p.I149V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155116669A>G" "" "VUS" "" "0000608384" "0" "70" "3" "154834480" "154834480" "del" "0" "02326" "MME_000023" "g.154834480del" "" "" "" "MME(NM_007288.3):c.467delC (p.P156Lfs*14), MME(NM_007289.3):c.467delC (p.P156Lfs*14), MME(NM_007289.4):c.467delC (p.P156Lfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155116691del" "" "likely pathogenic" "" "0000608385" "0" "30" "3" "154856031" "154856031" "subst" "0.0021754" "02326" "MME_000024" "g.154856031A>T" "" "" "" "MME(NM_007289.3):c.855+6A>T, MME(NM_007289.4):c.855+6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155138242A>T" "" "likely benign" "" "0000621203" "0" "10" "3" "154802129" "154802129" "subst" "0.000958983" "02330" "MME_000020" "g.154802129C>T" "" "" "" "MME(NM_007289.4):c.160+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155084340C>T" "" "benign" "" "0000621204" "0" "50" "3" "154861318" "154861318" "subst" "0" "02330" "MME_000025" "g.154861318G>C" "" "" "" "MME(NM_007289.4):c.1275G>C (p.R425S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155143529G>C" "" "VUS" "" "0000621205" "0" "90" "3" "154862172" "154862172" "subst" "8.14644E-5" "01943" "MME_000026" "g.154862172C>T" "" "" "" "MME(NM_007289.3):c.1342C>T (p.R448*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155144383C>T" "" "pathogenic" "" "0000654831" "0" "30" "3" "154855956" "154855956" "subst" "0.000537227" "01943" "MME_000027" "g.154855956G>A" "" "" "" "MME(NM_007289.3):c.786G>A (p.L262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155138167G>A" "" "likely benign" "" "0000654832" "0" "30" "3" "154859869" "154859869" "subst" "0.000540475" "01943" "MME_000028" "g.154859869A>G" "" "" "" "MME(NM_007289.3):c.1047A>G (p.P349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155142080A>G" "" "likely benign" "" "0000654833" "0" "50" "3" "154861272" "154861272" "subst" "8.13961E-6" "02330" "MME_000029" "g.154861272G>A" "" "" "" "MME(NM_007289.4):c.1229G>A (p.R410H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155143483G>A" "" "VUS" "" "0000676861" "0" "10" "3" "154859854" "154859854" "subst" "0.00108942" "02330" "MME_000031" "g.154859854G>T" "" "" "" "MME(NM_007289.4):c.1032G>T (p.V344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000676862" "0" "10" "3" "154861294" "154861294" "subst" "0.00107036" "02330" "MME_000032" "g.154861294G>A" "" "" "" "MME(NM_007289.4):c.1251G>A (p.G417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688970" "0" "70" "3" "154834480" "154834480" "del" "0" "01943" "MME_000023" "g.154834480del" "" "" "" "MME(NM_007288.3):c.467delC (p.P156Lfs*14), MME(NM_007289.3):c.467delC (p.P156Lfs*14), MME(NM_007289.4):c.467delC (p.P156Lfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000688971" "0" "30" "3" "154856031" "154856031" "subst" "0.0021754" "01943" "MME_000024" "g.154856031A>T" "" "" "" "MME(NM_007289.3):c.855+6A>T, MME(NM_007289.4):c.855+6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000697627" "0" "70" "3" "154802024" "154802024" "subst" "0.000158381" "00006" "MME_000033" "g.154802024G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.155084235G>A" "" "likely pathogenic" "" "0000719255" "0" "50" "3" "154802018" "154802018" "subst" "0" "02329" "MME_000019" "g.154802018A>T" "" "" "" "MME(NM_007289.4):c.62A>T (p.K21I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719256" "0" "50" "3" "154859862" "154859862" "subst" "0.000520228" "01943" "MME_000009" "g.154859862A>G" "" "" "" "MME(NM_007289.3):c.1040A>G (p.Y347C), MME(NM_007289.4):c.1040A>G (p.Y347C, p.(Tyr347Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719257" "0" "50" "3" "154890356" "154890356" "subst" "5.2849E-5" "02329" "MME_000030" "g.154890356C>T" "" "" "" "MME(NM_007289.4):c.2108C>T (p.A703V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801054" "0" "30" "3" "154856031" "154856031" "subst" "0.0021754" "02330" "MME_000024" "g.154856031A>T" "" "" "" "MME(NM_007289.3):c.855+6A>T, MME(NM_007289.4):c.855+6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801055" "0" "50" "3" "154884801" "154884801" "subst" "4.07176E-6" "02330" "MME_000034" "g.154884801G>A" "" "" "" "MME(NM_007289.4):c.1771G>A (p.D591N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801056" "0" "30" "3" "154889978" "154889978" "subst" "0.00032988" "01943" "MME_000035" "g.154889978C>T" "" "" "" "MME(NM_007289.3):c.2053C>T (p.L685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850170" "0" "30" "3" "154802839" "154802839" "subst" "0.000343967" "02330" "MME_000036" "g.154802839T>C" "" "" "" "MME(NM_007289.4):c.161-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850171" "0" "30" "3" "154861234" "154861234" "subst" "0.000907109" "02326" "MME_000038" "g.154861234C>T" "" "" "" "MME(NM_007289.4):c.1191C>T (p.A397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858843" "0" "50" "3" "154860115" "154860115" "subst" "2.85542E-5" "02330" "MME_000037" "g.154860115G>A" "" "" "" "MME(NM_007289.4):c.1184G>A (p.R395H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000879886" "1" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879887" "1" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879888" "1" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879889" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879890" "3" "10" "3" "" "" "" "" "00006" "MME_000039" "g.154834387_154834396ATdup" "" "{PMID:Hoyer 2022:35318247}" "" "AT 13x" "allele complicates PCR amplification" "Germline" "" "" "0" "" "" "g.155116598_155116607ATdup" "" "benign" "" "0000879891" "3" "10" "3" "" "" "" "" "00006" "MME_000039" "g.154834387_154834396ATdup" "" "{PMID:Hoyer 2022:35318247}" "" "AT 13x" "allele complicates PCR amplification" "Germline" "" "" "0" "" "" "g.155116598_155116607ATdup" "" "benign" "" "0000879892" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879893" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879894" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879895" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879896" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879897" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879898" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879899" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879900" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879901" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879902" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879903" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879904" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879905" "1" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879906" "1" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879907" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879908" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879909" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879910" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879911" "3" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879912" "3" "10" "3" "" "" "" "" "00006" "MME_000039" "g.154834387_154834396ATdup" "" "{PMID:Hoyer 2022:35318247}" "" "AT 13x" "allele complicates PCR amplification" "Germline" "" "" "0" "" "" "g.155116598_155116607ATdup" "" "benign" "" "0000879913" "3" "10" "3" "" "" "" "" "00006" "MME_000039" "g.154834387_154834396ATdup" "" "{PMID:Hoyer 2022:35318247}" "" "AT 13x" "allele complicates PCR amplification" "Germline" "" "" "0" "" "" "g.155116598_155116607ATdup" "" "benign" "" "0000879914" "1" "10" "3" "154834381" "154834396" "repeat" "0" "00006" "MME_000039" "g.154834381_154834396AT=" "" "{PMID:Hoyer 2022:35318247}" "" "AT 8x" "" "Germline" "" "" "0" "" "" "g.155116592_155116607AT=" "" "benign" "" "0000879915" "3" "10" "3" "" "" "" "" "00006" "MME_000039" "g.154834387_154834396ATdup" "" "{PMID:Hoyer 2022:35318247}" "" "AT 13x" "allele complicates PCR amplification" "Germline" "" "" "0" "" "" "g.155116598_155116607ATdup" "" "benign" "" "0000879916" "3" "10" "3" "" "" "" "" "00006" "MME_000039" "g.154834387_154834396ATdup" "" "{PMID:Hoyer 2022:35318247}" "" "AT 13x" "allele complicates PCR amplification" "Germline" "" "" "0" "" "" "g.155116598_155116607ATdup" "" "benign" "" "0000879917" "2" "10" "3" "" "" "" "" "00006" "MME_000039" "g.154834387_154834396ATdup" "" "{PMID:Hoyer 2022:35318247}" "" "AT 13x" "allele complicates PCR amplification" "Germline" "" "" "0" "" "" "g.155116598_155116607ATdup" "" "benign" "" "0000879918" "2" "10" "3" "" "" "" "" "00006" "MME_000040" "g.154834383_154834396ATdup" "" "{PMID:Hoyer 2022:35318247}" "" "AT 13x" "allele complicates PCR amplification" "Germline" "" "" "0" "" "" "g.155116594_155116607ATdup" "" "benign" "" "0000879919" "2" "10" "3" "" "" "" "" "00006" "MME_000041" "g.154834385_154834396ATdup" "" "{PMID:Hoyer 2022:35318247}" "" "AT 13x" "allele complicates PCR amplification" "Germline" "" "" "0" "" "" "g.155116596_155116607ATdup" "" "benign" "" "0000879920" "2" "10" "3" "" "" "" "" "00006" "MME_000039" "g.154834387_154834396ATdup" "" "{PMID:Hoyer 2022:35318247}" "" "AT 15x" "allele complicates PCR amplification" "Germline" "" "" "0" "" "" "g.155116598_155116607ATdup" "" "benign" "" "0000879921" "2" "10" "3" "" "" "" "" "00006" "MME_000039" "g.154834387_154834396ATdup" "" "{PMID:Hoyer 2022:35318247}" "" "AT 14x" "allele complicates PCR amplification" "Germline" "" "" "0" "" "" "g.155116598_155116607ATdup" "" "benign" "" "0000879922" "2" "10" "3" "" "" "" "" "00006" "MME_000039" "g.154834387_154834396ATdup" "" "{PMID:Hoyer 2022:35318247}" "" "AT 13x" "allele complicates PCR amplification" "Germline" "" "" "0" "" "" "g.155116598_155116607ATdup" "" "benign" "" "0000879923" "3" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879924" "3" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879925" "3" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879926" "1" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879927" "1" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879928" "3" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879929" "1" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879930" "1" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879931" "1" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879932" "1" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879933" "1" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879934" "1" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879935" "1" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879936" "1" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879937" "1" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879938" "1" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879939" "3" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879940" "3" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879941" "3" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879942" "1" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879943" "1" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879944" "3" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879945" "1" "90" "3" "154834480" "154834480" "del" "0" "00006" "MME_000023" "g.154834480del" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116691del" "" "pathogenic" "" "0000879946" "1" "90" "3" "154834451" "154834451" "subst" "1.63259E-5" "00006" "MME_000042" "g.154834451A>C" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116662A>C" "" "pathogenic" "" "0000879947" "1" "90" "3" "154834451" "154834451" "subst" "1.63259E-5" "00006" "MME_000042" "g.154834451A>C" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116662A>C" "" "pathogenic" "" "0000879948" "1" "90" "3" "154834451" "154834451" "subst" "1.63259E-5" "00006" "MME_000042" "g.154834451A>C" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116662A>C" "" "pathogenic" "" "0000879949" "1" "90" "3" "154834451" "154834451" "subst" "1.63259E-5" "00006" "MME_000042" "g.154834451A>C" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116662A>C" "" "pathogenic" "" "0000879950" "1" "90" "3" "154834451" "154834451" "subst" "1.63259E-5" "00006" "MME_000042" "g.154834451A>C" "" "{PMID:Hoyer 2022:35318247}" "" "" "" "Germline" "" "" "0" "" "" "g.155116662A>C" "" "pathogenic" "" "0000885607" "0" "50" "3" "154802024" "154802024" "subst" "0.000158381" "02330" "MME_000033" "g.154802024G>A" "" "" "" "MME(NM_007289.4):c.68G>A (p.R23Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885608" "0" "70" "3" "154856014" "154856014" "subst" "0" "02330" "MME_000043" "g.154856014G>T" "" "" "" "MME(NM_007289.4):c.844G>T (p.E282*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000885609" "0" "50" "3" "154886583" "154886583" "subst" "4.09544E-6" "02327" "MME_000044" "g.154886583C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885610" "0" "30" "3" "154898136" "154898136" "subst" "0.000183328" "02330" "MME_000045" "g.154898136G>A" "" "" "" "MME(NM_007289.4):c.2154-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922208" "1" "50" "3" "154889997" "154889997" "subst" "0" "01741" "MME_000046" "g.154889997C>T" "" "" "" "" "heterozygous in cis with c.2076+6G>A" "Germline/De novo (untested)" "" "" "0" "" "" "g.155172208C>T" "" "VUS" "" "0000922209" "1" "50" "3" "154890007" "154890007" "subst" "4.07724E-6" "01741" "MME_000047" "g.154890007G>A" "" "" "" "" "heterozygous in cis with c.2072C>T" "Germline/De novo (untested)" "" "" "0" "" "" "g.155172218G>A" "" "VUS" "" "0000922747" "0" "50" "3" "154801365" "154801365" "subst" "0" "03256" "MME_000048" "g.154801365T>A" "" "{DOI:Page 2013:10.1097/FPC.0b013e328363c137}" "" "" "rs989692 was significantly associated with ACEi induced angioedema in ONTARGET and Nashville/Marshfield African Americans.\r\nMME is the gene encoding neprilysin, an enzyme that degrades bradykinin and substance P." "Germline" "" "rs989692" "0" "" "" "g.155083576T>A" "" "association" "" "0000923858" "0" "50" "3" "154836556" "154836556" "subst" "0" "02327" "MME_000049" "g.154836556C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927617" "0" "50" "3" "154866395" "154866395" "subst" "0" "01741" "MME_000050" "g.154866395C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.155148606C>A" "" "VUS" "ACMG" "0000928729" "0" "30" "3" "154832779" "154832779" "subst" "0.00117426" "02326" "MME_000021" "g.154832779G>C" "" "" "" "MME(NM_007289.4):c.197-4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928730" "0" "50" "3" "154859862" "154859862" "subst" "0.000520228" "02326" "MME_000009" "g.154859862A>G" "" "" "" "MME(NM_007289.3):c.1040A>G (p.Y347C), MME(NM_007289.4):c.1040A>G (p.Y347C, p.(Tyr347Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933310" "0" "70" "3" "154858001" "154858001" "subst" "4.0788E-6" "03779" "MME_000051" "g.154858001C>T" "" "" "" "" "" "Unknown" "" "rs764060752" "0" "" "" "" "" "likely pathogenic" "" "0000948058" "0" "30" "3" "154860131" "154860131" "dup" "0" "02330" "MME_000052" "g.154860131dup" "" "" "" "MME(NM_007288.3):c.1188+12dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948059" "0" "50" "3" "154861284" "154861284" "subst" "4.06961E-6" "02330" "MME_000053" "g.154861284A>G" "" "" "" "MME(NM_007288.3):c.1241A>G (p.Y414C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948060" "0" "50" "3" "154886352" "154886352" "subst" "0" "02327" "MME_000054" "g.154886352C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975633" "0" "90" "3" "154834480" "154834480" "del" "0" "02330" "MME_000023" "g.154834480del" "" "" "" "MME(NM_007288.3):c.467delC (p.P156Lfs*14), MME(NM_007289.3):c.467delC (p.P156Lfs*14), MME(NM_007289.4):c.467delC (p.P156Lfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000993392" "0" "90" "3" "154862172" "154862172" "subst" "8.14644E-5" "02327" "MME_000026" "g.154862172C>T" "" "" "" "MME(NM_007289.3):c.1342C>T (p.R448*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001013830" "0" "50" "3" "154832831" "154832831" "subst" "0" "02330" "MME_000055" "g.154832831A>C" "" "" "" "MME(NM_007288.3):c.245A>C (p.D82A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013831" "0" "50" "3" "154834550" "154834550" "subst" "0" "02330" "MME_000056" "g.154834550T>G" "" "" "" "MME(NM_007288.3):c.535+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013832" "0" "50" "3" "154864957" "154864957" "subst" "4.47475E-5" "02330" "MME_000057" "g.154864957G>A" "" "" "" "MME(NM_007288.3):c.1441G>A (p.G481S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013833" "0" "50" "3" "154884801" "154884801" "subst" "4.07176E-6" "02327" "MME_000034" "g.154884801G>A" "" "" "" "MME(NM_007289.4):c.1771G>A (p.D591N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024736" "0" "70" "3" "154836601" "154836601" "del" "0" "02330" "MME_000058" "g.154836601del" "" "" "" "MME(NM_007288.3):c.720delG (p.A241Lfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001033765" "0" "30" "3" "154802113" "154802113" "subst" "0.000182814" "01804" "MME_000059" "g.154802113G>A" "" "" "" "MME(NM_007289.4):c.157G>A (p.(Asp53Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033766" "0" "50" "3" "154859862" "154859862" "subst" "0.000520228" "01804" "MME_000009" "g.154859862A>G" "" "" "" "MME(NM_007289.3):c.1040A>G (p.Y347C), MME(NM_007289.4):c.1040A>G (p.Y347C, p.(Tyr347Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047667" "0" "90" "3" "154834480" "154834480" "del" "0" "03779" "MME_000023" "g.154834480del" "" "" "" "" "" "Unknown" "" "rs749320057" "0" "" "" "" "" "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 MME ## Count = 134 "{{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}}" "0000499840" "00025741" "70" "2178" "0" "2178" "0" "c.2178del" "r.(?)" "p.(Ala727Glnfs*15)" "" "0000518323" "00025741" "10" "22" "0" "22" "0" "c.22A>G" "r.(?)" "p.(Met8Val)" "" "0000518324" "00025741" "30" "96" "0" "96" "0" "c.96G>A" "r.(?)" "p.(Ser32=)" "" "0000518326" "00025741" "10" "160" "15" "160" "15" "c.160+15C>T" "r.(=)" "p.(=)" "" "0000518327" "00025741" "10" "197" "-15" "197" "-15" "c.197-15T>G" "r.(=)" "p.(=)" "" "0000518328" "00025741" "50" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103Cys)" "" "0000518329" "00025741" "50" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103Cys)" "" "0000518330" "00025741" "30" "1033" "0" "1033" "0" "c.1033G>A" "r.(?)" "p.(Val345Ile)" "" "0000518331" "00025741" "30" "1033" "0" "1033" "0" "c.1033G>A" "r.(?)" "p.(Val345Ile)" "" "0000518332" "00025741" "50" "1040" "0" "1040" "0" "c.1040A>G" "r.(?)" "p.(Tyr347Cys)" "" "0000518333" "00025741" "50" "1040" "0" "1040" "0" "c.1040A>G" "r.(?)" "p.(Tyr347Cys)" "" "0000518334" "00025741" "70" "1048" "0" "1049" "0" "c.1048_1049del" "r.(?)" "p.(Glu350IlefsTer6)" "" "0000518335" "00025741" "10" "1255" "0" "1255" "0" "c.1255A>C" "r.(?)" "p.(Met419Leu)" "" "0000518336" "00025741" "10" "1601" "11" "1601" "11" "c.1601+11T>C" "r.(=)" "p.(=)" "" "0000518337" "00025741" "10" "1602" "-20" "1602" "-20" "c.1602-20del" "r.(=)" "p.(=)" "" "0000518338" "00025741" "50" "1765" "0" "1765" "0" "c.1765G>A" "r.(?)" "p.(Gly589Ser)" "" "0000518339" "00025741" "10" "1781" "-3" "1781" "-3" "c.1781-3T>C" "r.spl?" "p.?" "" "0000518340" "00025741" "30" "1914" "7" "1914" "7" "c.1914+7C>A" "r.(=)" "p.(=)" "" "0000518341" "00025741" "10" "2133" "0" "2133" "0" "c.2133G>A" "r.(?)" "p.(Val711=)" "" "0000518342" "00025741" "50" "2207" "0" "2207" "0" "c.2207G>T" "r.(?)" "p.(Arg736Leu)" "" "0000608382" "00025741" "30" "197" "-4" "197" "-4" "c.197-4G>C" "r.spl?" "p.?" "" "0000608383" "00025741" "50" "445" "0" "445" "0" "c.445A>G" "r.(?)" "p.(Ile149Val)" "" "0000608384" "00025741" "70" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000608385" "00025741" "30" "855" "6" "855" "6" "c.855+6A>T" "r.(=)" "p.(=)" "" "0000621203" "00025741" "10" "160" "13" "160" "13" "c.160+13C>T" "r.(=)" "p.(=)" "" "0000621204" "00025741" "50" "1275" "0" "1275" "0" "c.1275G>C" "r.(?)" "p.(Arg425Ser)" "" "0000621205" "00025741" "90" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Ter)" "" "0000654831" "00025741" "30" "786" "0" "786" "0" "c.786G>A" "r.(?)" "p.(Leu262=)" "" "0000654832" "00025741" "30" "1047" "0" "1047" "0" "c.1047A>G" "r.(?)" "p.(Pro349=)" "" "0000654833" "00025741" "50" "1229" "0" "1229" "0" "c.1229G>A" "r.(?)" "p.(Arg410His)" "" "0000676861" "00025741" "10" "1032" "0" "1032" "0" "c.1032G>T" "r.(?)" "p.(Val344=)" "" "0000676862" "00025741" "10" "1251" "0" "1251" "0" "c.1251G>A" "r.(?)" "p.(Gly417=)" "" "0000688970" "00025741" "70" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000688971" "00025741" "30" "855" "6" "855" "6" "c.855+6A>T" "r.(=)" "p.(=)" "" "0000697627" "00025741" "70" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.(Arg23Gln)" "" "0000719255" "00025741" "50" "62" "0" "62" "0" "c.62A>T" "r.(?)" "p.(Lys21Ile)" "" "0000719256" "00025741" "50" "1040" "0" "1040" "0" "c.1040A>G" "r.(?)" "p.(Tyr347Cys)" "" "0000719257" "00025741" "50" "2108" "0" "2108" "0" "c.2108C>T" "r.(?)" "p.(Ala703Val)" "" "0000801054" "00025741" "30" "855" "6" "855" "6" "c.855+6A>T" "r.(=)" "p.(=)" "" "0000801055" "00025741" "50" "1771" "0" "1771" "0" "c.1771G>A" "r.(?)" "p.(Asp591Asn)" "" "0000801056" "00025741" "30" "2053" "0" "2053" "0" "c.2053C>T" "r.(?)" "p.(Leu685=)" "" "0000850170" "00025741" "30" "161" "-9" "161" "-9" "c.161-9T>C" "r.(=)" "p.(=)" "" "0000850171" "00025741" "30" "1191" "0" "1191" "0" "c.1191C>T" "r.(?)" "p.(Ala397=)" "" "0000858843" "00025741" "50" "1184" "0" "1184" "0" "c.1184G>A" "r.(?)" "p.(Arg395His)" "" "0000879886" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879887" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879888" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879889" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879890" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[13]" "r.(?)" "p.(=)" "5i" "0000879891" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[13]" "r.(?)" "p.(=)" "5i" "0000879892" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879893" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879894" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879895" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879896" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879897" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879898" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879899" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879900" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879901" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879902" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879903" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879904" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879905" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879906" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879907" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879908" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879909" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879910" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879911" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879912" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[13]" "r.(?)" "p.(=)" "5i" "0000879913" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[13]" "r.(?)" "p.(=)" "5i" "0000879914" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879915" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879916" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879917" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[13]" "r.(?)" "p.(=)" "5i" "0000879918" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[15]" "r.(?)" "p.(=)" "5i" "0000879919" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[14]" "r.(?)" "p.(=)" "5i" "0000879920" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879921" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879922" "00025741" "10" "439" "33" "439" "48" "c.439+33_439+48AT[8]" "r.(?)" "p.(=)" "5i" "0000879923" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879924" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879925" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879926" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879927" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879928" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879929" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879930" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879931" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879932" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879933" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879934" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879935" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879936" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879937" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879938" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879939" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879940" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879941" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879942" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879943" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879944" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879945" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000879946" "00025741" "90" "440" "-2" "440" "-2" "c.440-2A>C" "r.spl" "p.?" "" "0000879947" "00025741" "90" "440" "-2" "440" "-2" "c.440-2A>C" "r.spl" "p.?" "" "0000879948" "00025741" "90" "440" "-2" "440" "-2" "c.440-2A>C" "r.spl" "p.?" "" "0000879949" "00025741" "90" "440" "-2" "440" "-2" "c.440-2A>C" "r.spl" "p.?" "" "0000879950" "00025741" "90" "440" "-2" "440" "-2" "c.440-2A>C" "r.spl" "p.?" "" "0000885607" "00025741" "50" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.(Arg23Gln)" "" "0000885608" "00025741" "70" "844" "0" "844" "0" "c.844G>T" "r.(?)" "p.(Glu282*)" "" "0000885609" "00025741" "50" "1977" "0" "1977" "0" "c.1977C>G" "r.(?)" "p.(Tyr659*)" "" "0000885610" "00025741" "30" "2154" "-13" "2154" "-13" "c.2154-13G>A" "r.(=)" "p.(=)" "" "0000922208" "00025741" "50" "2072" "0" "2072" "0" "c.2072C>T" "r.(?)" "p.(Ala691Val)" "" "0000922209" "00025741" "50" "2076" "6" "2076" "6" "c.2076+6G>A" "r.spl?" "p.(?)" "" "0000922747" "00025741" "50" "-10" "-582" "-10" "-582" "c.-10-582T>A" "r.(=)" "p.(=)" "1i" "0000923858" "00025741" "50" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Leu226Phe)" "" "0000927617" "00025741" "50" "1554" "0" "1554" "0" "c.1554C>A" "r.(?)" "p.(Ser518Arg)" "16" "0000928729" "00025741" "30" "197" "-4" "197" "-4" "c.197-4G>C" "r.spl?" "p.?" "" "0000928730" "00025741" "50" "1040" "0" "1040" "0" "c.1040A>G" "r.(?)" "p.(Tyr347Cys)" "" "0000933310" "00025741" "70" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293Ter)" "" "0000948058" "00025741" "30" "1188" "12" "1188" "12" "c.1188+12dup" "r.(=)" "p.(=)" "" "0000948059" "00025741" "50" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000948060" "00025741" "50" "1852" "0" "1852" "0" "c.1852C>T" "r.(?)" "p.(Gln618*)" "" "0000975633" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" "0000993392" "00025741" "90" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Ter)" "" "0001013830" "00025741" "50" "245" "0" "245" "0" "c.245A>C" "r.(?)" "p.(Asp82Ala)" "" "0001013831" "00025741" "50" "535" "2" "535" "2" "c.535+2T>G" "r.spl?" "p.?" "" "0001013832" "00025741" "50" "1441" "0" "1441" "0" "c.1441G>A" "r.(?)" "p.(Gly481Ser)" "" "0001013833" "00025741" "50" "1771" "0" "1771" "0" "c.1771G>A" "r.(?)" "p.(Asp591Asn)" "" "0001024736" "00025741" "70" "720" "1" "720" "1" "c.720+1del" "r.(?)" "p.(Ala241Leufs*9)" "" "0001033765" "00025741" "30" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Asp53Asn)" "" "0001033766" "00025741" "50" "1040" "0" "1040" "0" "c.1040A>G" "r.(?)" "p.(Tyr347Cys)" "" "0001047667" "00025741" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Pro156LeufsTer14)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 71 "{{screeningid}}" "{{variantid}}" "0000247000" "0000499840" "0000315538" "0000697627" "0000419755" "0000879886" "0000419755" "0000879917" "0000419755" "0000879923" "0000419756" "0000879887" "0000419756" "0000879918" "0000419756" "0000879924" "0000419757" "0000879888" "0000419757" "0000879919" "0000419757" "0000879925" "0000419758" "0000879889" "0000419758" "0000879926" "0000419759" "0000879890" "0000419760" "0000879891" "0000419761" "0000879892" "0000419761" "0000879927" "0000419762" "0000879893" "0000419762" "0000879928" "0000419763" "0000879894" "0000419764" "0000879895" "0000419764" "0000879929" "0000419765" "0000879896" "0000419765" "0000879930" "0000419766" "0000879897" "0000419766" "0000879931" "0000419767" "0000879898" "0000419767" "0000879932" "0000419768" "0000879899" "0000419768" "0000879933" "0000419769" "0000879900" "0000419769" "0000879934" "0000419770" "0000879901" "0000419770" "0000879935" "0000419771" "0000879902" "0000419771" "0000879936" "0000419772" "0000879903" "0000419772" "0000879937" "0000419773" "0000879904" "0000419773" "0000879938" "0000419774" "0000879905" "0000419774" "0000879920" "0000419774" "0000879939" "0000419775" "0000879906" "0000419775" "0000879921" "0000419775" "0000879940" "0000419776" "0000879907" "0000419776" "0000879941" "0000419777" "0000879908" "0000419777" "0000879942" "0000419778" "0000879909" "0000419778" "0000879943" "0000419779" "0000879910" "0000419779" "0000879944" "0000419780" "0000879911" "0000419780" "0000879945" "0000419781" "0000879912" "0000419781" "0000879946" "0000419782" "0000879913" "0000419782" "0000879947" "0000419783" "0000879914" "0000419783" "0000879922" "0000419783" "0000879948" "0000419784" "0000879915" "0000419784" "0000879949" "0000419785" "0000879916" "0000419785" "0000879950" "0000435911" "0000922208" "0000435911" "0000922209" "0000436374" "0000922747" "0000436583" "0000927617"