### 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" "00006" "2026-03-06 17:26:39" ## 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 = 12 "{{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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "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" "" "" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "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 = 50 "{{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" "" "" "" "" "" "" "00473120" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam100294Pat250" "00473254" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam113249Pat464" "00473258" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam113343Pat468" "00473315" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam203199Pat555" "00473348" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam205972Pat609" "00473391" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam208046Pat676" "00473435" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam210530Pat746" "00473467" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam212892Pat799" "00473578" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9405210Pat968" "00473604" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam9413864Pat998" "00473648" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9506698Pat1062" "00473713" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam9603011Pat1148" "00473768" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9614240Pat1223" "00473918" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9900806Pat1438" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 50 "{{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" "00473120" "05113" "00473254" "05113" "00473258" "05113" "00473315" "05384" "00473348" "05384" "00473391" "05113" "00473435" "05384" "00473467" "05113" "00473578" "05113" "00473604" "05113" "00473648" "00244" "00473713" "05384" "00473768" "05618" "00473918" "05113" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00244, 02200, 04580, 05113, 05126, 05157, 05384, 05618, 06562, 06563 ## Count = 46 "{{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" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000357915" "05113" "00473120" "00006" "Familial, autosomal recessive" "56y" "onset 40y old, with difficulty walking & frequent falls; Severe muscle weakness & wasting, distal>proximal, lower>upper limbs; Feet drop; Deformed ankle bones; Bilateral pes cavus; Claw fingers; Hand tremor; Abnormal gait, walk with support; Thenar and hypothenar atrophy; Hearing impairment; Cardiovascular disorder; EDX: chronic severe axonal polyneuropathy." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358049" "05113" "00473254" "00006" "Unknown" "44y" "onset 36y, Hypoesthesia & Paresthesia, feet & hands; Sensory involvement, distal>proximal, lower>upper; Foot dorsiflexor weakness; Muscle atrophy in lower limbs & hand muscles; EMG-NCV: chronic axonal motor > sensory polyneuropathy." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358053" "05113" "00473258" "00006" "Familial, autosomal dominant" "54y" "onset foury earlier, muscle crapms, walking and running difficulty, pes cavus, kyphosis,distal lower muscle atrophy, axonal type of sensory-motor polyneuropathy reported in NCV, normal brain MRI." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358110" "05384" "00473315" "00006" "Unknown" "65y" "onset 10y earlier, distal lower muscle weakness and atrophy, walking difficulty,axonal sensorimotor polyneuropathy." "" "" "" "" "" "" "" "" "" "hereditary neuropathy" "" "0000358143" "05384" "00473348" "00006" "Unknown" "45y" "onset 5y, lower and upper muscle weakness, positive Gower’s sign, pes cavus, gait abnormality." "" "" "" "" "" "" "" "" "" "hereditary neuropathy" "" "0000358186" "05113" "00473391" "00006" "Familial, autosomal recessive" "45y" "Result: PositiveAn established or likely cause of the reported phenotype was identified." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358230" "05384" "00473435" "00006" "Familial, autosomal recessive" "45y" "one younger affected sibling, onset 2y, distal lower muscle weakness, foot drop , pes cavus, toe- heel walking inability and EDX is compatible with chronic motor neuropathy" "" "" "" "" "" "" "" "" "" "hereditary neuropathy" "" "0000358262" "05113" "00473467" "00006" "Familial, autosomal recessive" "53y" "distal weakness, parasthesia, gait abnormality, heel-toe walking inability, chronic axonal sensorimotor polyneuropathy reported in EDX." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358373" "05113" "00473578" "00006" "Familial, autosomal recessive" "40y" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358399" "05113" "00473604" "00006" "Familial, autosomal recessive" "51y" "Myopia; Tooth decay; Muscle atrophy and weakness; Tremor, resting & action in lower and upper limbs; Spasticity, lower & upper limbs; Scoliosis, mild; Truncal ataxia; Hypotonia; Fragile nails; Hypoesthesia & Paresthesia; Pes cavus; Hx. of pulmonary infection & limb fractures; Biopsy: Peripheral neuropathy mixed axonal & demyelinating with focal nerve fiber loss; EMG-NCV: compatible with chronic axonal sensorymotor polyneuropathy." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358443" "00244" "00473648" "00006" "Unknown" "32y" "Positive history for Arsenic poisoning; Haematuria; Muscle weakness; Tingling and numbness, hands and feet; Farsightedness; Astigmatism; Muscle weakness, lower limbs; decreased sensation, Feet, bilateral; Difficulty rising from seated position; Difficulty climbing stairs; MRI of tight: focal prominent fat replacement in right gracillis muscles and minimal fat replacement in bilateral gluteal muscles (Dr.AghaGhazvini-1394); EMG-NCV: acute myogenic process involving lower limbs and proximal part of upper limbs, very mild axonal sensory polyneuropathy in distal parts of lower limbs; Elevated level of serum CK; Muscle biopsy: fiber type grouping with no atrophic change." "" "" "" "" "" "" "" "" "" "metabolic myopathy" "" "0000358508" "05384" "00473713" "00006" "Familial, autosomal recessive" "35y" "Muscle weakness, progressive, upper/lower limbs, legs>arms, distal>proximal; Difficulty walking, climbing steps, running & rising from seated position; Lordosis; Hand tremor; Flat feet; Abnormal gait; EMG-NCV: compatible with motor neuron disease/polyradiculopathy." "" "" "" "" "" "" "" "" "" "hereditary neuropathy" "" "0000358563" "05618" "00473768" "00006" "Familial, autosomal recessive" "40y" "Muscle spasm in lower ext.; Muscle weakness, lower limbs, distal>proximal; Mild wasting in distal of legs; Difficulty walking, running and climbing steps; Foot drop, mild; Numbness when walking long; Abnormal gait; EMG-NCV: chronic ant horn cell dis or motor polyneuropathy predominantly lower limbs, lumbosacral polyradiculopathy should be excluded." "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000358713" "05113" "00473918" "00006" "Familial, autosomal recessive" "52y" "onset since 3y ago with muscle weakness due to neuropathy in distal of lower limbs; Pes cavus; Claw toes; Hand tremor, intention; Imbalance; GI endoscopy: possible spastic lower esophageal sphincter, Achalasia; EMG-NCV: chronic sensory motor axonal polyneuropathy or plexopathy in lower limbs; Proteinuria." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 50 "{{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" "" "" "0000474789" "00473120" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474923" "00473254" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474927" "00473258" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474984" "00473315" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475017" "00473348" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475060" "00473391" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475104" "00473435" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475136" "00473467" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475247" "00473578" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475273" "00473604" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475317" "00473648" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475382" "00473713" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475437" "00473768" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475587" "00473918" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 150 "{{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" "" "0001064093" "0" "30" "3" "154855888" "154855888" "subst" "3.66369E-5" "01804" "MME_000060" "g.154855888C>T" "" "" "" "MME(NM_007289.4):c.721-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064094" "0" "50" "3" "154862238" "154862238" "subst" "4.07764E-6" "01804" "MME_000061" "g.154862238G>T" "" "" "" "MME(NM_007289.4):c.1408G>T (p.(Glu470*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001069187" "3" "70" "3" "154890329" "154890329" "subst" "0" "00006" "MME_000068" "g.154890329G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.155172540G>A" "SCV006075060" "likely pathogenic" "ACMG" "0001069321" "3" "50" "3" "154834512" "154834512" "subst" "0" "00006" "MME_000063" "g.154834512T>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP5, PP3" "Germline" "" "" "0" "" "" "g.155116723T>A" "SCV001755603" "VUS" "ACMG" "0001069325" "0" "70" "3" "154886318" "154886318" "dup" "0" "00006" "MME_000065" "g.154886318dup" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1VS, PM2M" "Germline" "" "" "0" "" "" "g.155168529dup" "SCV006075058" "likely pathogenic" "ACMG" "0001069382" "3" "50" "3" "154898237" "154898237" "subst" "0.000122156" "00006" "MME_000069" "g.154898237C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2_m, PP3_sup, PM3" "Germline" "" "" "0" "" "" "g.155180448C>T" "SCV006075061" "VUS" "ACMG" "0001069415" "3" "50" "3" "154886377" "154886377" "subst" "0" "00006" "MME_000067" "g.154886377A>G" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3_mod" "Germline" "" "" "0" "" "" "g.155168588A>G" "SCV006075059" "VUS" "ACMG" "0001069457" "3" "70" "3" "154886361" "154886361" "subst" "0" "00006" "MME_000066" "g.154886361T>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PP3_mod, PP5_mod, PM2_mod" "Germline" "" "" "0" "" "" "g.155168572T>C" "SCV006075216" "likely pathogenic" "ACMG" "0001069500" "3" "70" "3" "154886361" "154886361" "subst" "0" "00006" "MME_000066" "g.154886361T>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2_M, PP3_st, PP5_SP" "Germline" "" "" "0" "" "" "g.155168572T>C" "SCV006075216" "likely pathogenic" "ACMG" "0001069532" "3" "90" "3" "154859888" "154859888" "subst" "0" "00006" "MME_000064" "g.154859888A>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1_vs, PM2, PP5" "Germline" "" "" "0" "" "" "g.155142099A>T" "SCV006075057" "pathogenic" "ACMG" "0001069643" "3" "90" "3" "154862172" "154862172" "subst" "8.14644E-5" "00006" "MME_000026" "g.154862172C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM3_str, PM2, PP5" "Germline" "" "" "0" "" "" "g.155144383C>T" "SCV001934155" "pathogenic" "ACMG" "0001069669" "3" "70" "3" "154886361" "154886361" "subst" "0" "00006" "MME_000066" "g.154886361T>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PP3_str, PM2-PP5" "Germline" "" "" "0" "" "" "g.155168572T>C" "SCV001755329" "likely pathogenic" "ACMG" "0001069713" "0" "50" "3" "154801979" "154801979" "subst" "0" "00006" "MME_000062" "g.154801979T>G" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.155084190T>G" "SCV006075056" "VUS" "ACMG" "0001069777" "3" "70" "3" "154886361" "154886361" "subst" "0" "00006" "MME_000066" "g.154886361T>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM1, PM2, PP3, PP5" "Germline" "" "" "0" "" "" "g.155168572T>C" "SCV001755329" "likely pathogenic" "ACMG" "0001069832" "3" "70" "3" "154834512" "154834512" "subst" "0" "00006" "MME_000063" "g.154834512T>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM1, PM2, PP3, PM3_sup" "Germline" "" "" "0" "" "" "g.155116723T>A" "SCV001755603" "likely pathogenic" "ACMG" "0001069980" "3" "70" "3" "154834512" "154834512" "subst" "0" "00006" "MME_000063" "g.154834512T>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM1, PM2, PP3, PM3_sup" "Germline" "" "" "0" "" "" "g.155116723T>A" "SCV001755603" "likely pathogenic" "ACMG" ## 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 = 150 "{{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)" "" "0001064093" "00025741" "30" "721" "-3" "721" "-3" "c.721-3C>T" "r.spl?" "p.?" "" "0001064094" "00025741" "50" "1408" "0" "1408" "0" "c.1408G>T" "r.(?)" "p.(Glu470*)" "" "0001069187" "00025741" "70" "2081" "0" "2081" "0" "c.2081G>A" "r.(?)" "p.(Trp694Ter)" "" "0001069321" "00025741" "50" "499" "0" "499" "0" "c.499T>A" "r.(?)" "p.(Trp167Arg)" "" "0001069325" "00025741" "70" "1818" "0" "1818" "0" "c.1818dup" "r.(?)" "p.(Trp607ValfsTer8)" "" "0001069382" "00025741" "50" "2242" "0" "2242" "0" "c.2242C>T" "r.(?)" "p.(Arg748Trp)" "" "0001069415" "00025741" "50" "1877" "0" "1877" "0" "c.1877A>G" "r.(?)" "p.(Tyr626Cys)" "" "0001069457" "00025741" "70" "1861" "0" "1861" "0" "c.1861T>C" "r.(?)" "p.(Cys621Arg)" "" "0001069500" "00025741" "70" "1861" "0" "1861" "0" "c.1861T>C" "r.(?)" "p.(Cys621Arg)" "" "0001069532" "00025741" "90" "1066" "0" "1066" "0" "c.1066A>T" "r.(?)" "p.(Lys356Ter)" "" "0001069643" "00025741" "90" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Ter)" "" "0001069669" "00025741" "70" "1861" "0" "1861" "0" "c.1861T>C" "r.(?)" "p.(Cys621Arg)" "" "0001069713" "00025741" "50" "23" "0" "23" "0" "c.23T>G" "r.(?)" "p.(Met8Arg)" "" "0001069777" "00025741" "70" "1861" "0" "1861" "0" "c.1861T>C" "r.(?)" "p.(Cys621Arg)" "" "0001069832" "00025741" "70" "499" "0" "499" "0" "c.499T>A" "r.(?)" "p.(Trp167Arg)" "" "0001069980" "00025741" "70" "499" "0" "499" "0" "c.499T>A" "r.(?)" "p.(Trp167Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 85 "{{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" "0000474789" "0001069187" "0000474923" "0001069321" "0000474927" "0001069325" "0000474984" "0001069382" "0000475017" "0001069415" "0000475060" "0001069457" "0000475104" "0001069500" "0000475136" "0001069532" "0000475247" "0001069643" "0000475273" "0001069669" "0000475317" "0001069713" "0000475382" "0001069777" "0000475437" "0001069832" "0000475587" "0001069980"