### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ARMC9) # 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}}" "ARMC9" "armadillo repeat containing 9" "2" "q37.1" "unknown" "NC_000002.11" "UD_136021244823" "" "https://www.LOVD.nl/ARMC9" "" "1" "20730" "80210" "0" "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/ARMC9_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-08-28 15:45:07" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00002883" "ARMC9" "transcript variant 2" "002" "NM_025139.4" "" "NP_079415.3" "" "" "" "-160" "2103" "1998" "232063294" "232209911" "" "0000-00-00 00:00:00" "" "" "00025933" "ARMC9" "transcript variant 4 (removed from reference sequence)" "000" "NM_001352754.1" "" "NP_001339683.1" "" "" "" "-194" "7760" "2457" "1" "1" "00006" "2024-05-31 12:05:01" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "02262" "RS1" "retinoschisis, type 1, X-linked" "XLR" "312700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-12-19 09:25:40" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05824" "JBTS30" "Joubert syndrome, type 30 (JBTS30)" "AR" "617622" "" "" "" "00006" "2020-08-28 15:44:56" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ARMC9" "05109" "ARMC9" "05824" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00183058" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "M" "" "Netherlands" "" "0" "" "" "" "23033978-Trio43" "00309525" "" "" "" "1" "" "00006" "{PMID:Van de Weghe 2017:28625504}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "white" "UW132-3" "00309526" "" "" "" "1" "" "00006" "{PMID:Van de Weghe 2017:28625504}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "white" "UW132-4" "00309527" "" "" "" "1" "" "00006" "{PMID:Van de Weghe 2017:28625504}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Israel" "" "0" "" "" "white" "UW348-3" "00309528" "" "" "" "1" "" "00006" "{PMID:Van de Weghe 2017:28625504}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "white" "UW116-3" "00309529" "" "" "" "1" "" "00006" "{PMID:Van de Weghe 2017:28625504}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Australia" "" "0" "" "" "white" "UW335-3" "00309530" "" "" "" "1" "" "00006" "{PMID:Van de Weghe 2017:28625504}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Australia" "" "0" "" "" "white" "UW335-4" "00309531" "" "" "" "1" "" "00006" "{PMID:Van de Weghe 2017:28625504}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "UW349-3" "00309532" "" "" "" "1" "" "00006" "{PMID:Van de Weghe 2017:28625504}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "white" "LR09-023" "00309533" "" "" "" "1" "" "00006" "{PMID:Van de Weghe 2017:28625504}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Saudi Arabia" "" "0" "" "" "Arab" "SA1-3" "00309534" "" "" "" "1" "" "00006" "{PMID:Van de Weghe 2017:28625504}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Saudi Arabia" "" "0" "" "" "Arab" "SA2-3" "00309535" "" "" "" "1" "" "00006" "{PMID:Van de Weghe 2017:28625504}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Saudi Arabia" "" "0" "" "" "Arab" "SA2-4" "00309536" "" "" "" "3" "" "00006" "{PMID:Kar 2018:29159890}" "2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents" "F;M" "yes" "India" "" "0" "" "" "" "family" "00380403" "" "" "" "1" "" "00006" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat8" "00451357" "" "" "" "2" "" "00006" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "family, affected son/father" "M" "" "" "" "0" "" "" "" "F022.1/2" "00458712" "" "" "" "1" "" "00006" "{PMID:Azevedo 2024:38172268}" "" "M" "" "Brazil" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00183058" "00139" "00309525" "05109" "00309526" "05109" "00309527" "05109" "00309528" "05109" "00309529" "05109" "00309530" "05109" "00309531" "05109" "00309532" "05109" "00309533" "05109" "00309534" "05109" "00309535" "05109" "00309536" "00198" "00380403" "05611" "00451357" "00325" "00458712" "02262" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00325, 02262, 05109, 05611, 05824 ## Count = 16 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000143811" "00139" "00183058" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000234845" "05109" "00309525" "00006" "Familial, autosomal recessive" "33y" "see paper; ..., developmental disability; no apnea, no tachypnea; abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; no polydactyly; no coloboma; no ptosis; seizures; hysterectomy 2016 (heavy bleeding); worsening visual acuity" "" "" "" "" "" "" "" "" "JBTS30" "Joubert syndrome" "" "0000234846" "05109" "00309526" "00006" "Familial, autosomal recessive" "29y" "see paper; ..., developmental disability; no apnea, no tachypnea; abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; polydactyly; no coloboma; ptosis; no seizures; lithium-induced hypo-thyroidism; L foot postaxial polydactyly" "" "" "" "" "" "" "" "" "JBTS30" "Joubert syndrome" "" "0000234847" "05109" "00309527" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., developmental disability; abnormal eye movements; retinal dystrophy; no seizures; abnormal ERG" "" "" "" "" "" "" "" "" "JBTS30" "Joubert syndrome" "" "0000234848" "05109" "00309528" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., developmental disability; apnea, tachypnea; abnormal eye movements; no retinal dystrophy; no polydactyly; no coloboma; ptosis; seizures; G-tube" "" "" "" "" "" "" "" "" "JBTS30" "Joubert syndrome" "" "0000234849" "05109" "00309529" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., developmental disability; apnea, tachypnea; abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; no polydactyly; no coloboma; no ptosis; no seizures" "" "" "" "" "" "" "" "" "JBTS30" "Joubert syndrome" "" "0000234850" "05109" "00309530" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., developmental disability; no apnea, no tachypnea; abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; no polydactyly; no coloboma; no ptosis; no seizures; single heterotopia (left occipital horn)" "" "" "" "" "" "" "" "" "JBTS30" "Joubert syndrome" "" "0000234851" "05109" "00309531" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., developmental disability; apnea; abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; no polydactyly; no coloboma; ptosis; no seizures; micrognathia; high palate; bifid uvula; bilateral optic nerve hypoplasia; GH deficiency; micropenis; eyelid implants; possible hearing loss; borderline HSM" "" "" "" "" "" "" "" "" "JBTS30" "Joubert syndrome" "" "0000234852" "05109" "00309532" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., developmental disability; tachypnea; no polydactyly; ptosis; no seizures; Dandy Walker malformation; ventriculo- and cysto-peritoneal shunts; non-ambulatory; 8y-no speech" "" "" "" "" "" "" "" "" "JBTS30" "Joubert syndrome" "" "0000234853" "05109" "00309533" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., developmental disability; transient neonatal apnea/tachypnea; abnormal eye movements; no kidney abnormality; no liver abnormality; no polydactyly; ptosis; no seizures;" "" "" "" "" "" "" "" "" "JBTS30" "Joubert syndrome" "" "0000234854" "05109" "00309534" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., developmental disability; no apnea, no tachypnea; abnormal eye movements; retinal dystrophy; no kidney abnormality; no liver abnormality; polydactyly; no coloboma; ptosis; no seizures; broad nasal bridge; thin upper lip; Y-shaped 2/3 toe syndactyly" "" "" "" "" "" "" "" "" "JBTS30" "Joubert syndrome" "" "0000234855" "05109" "00309535" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., developmental disability; transient neonatal apnea/tachypnea; no abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; no polydactyly; no coloboma; ptosis; no seizures" "" "" "" "" "" "" "" "" "JBTS30" "Joubert syndrome" "" "0000234856" "00198" "00309536" "00006" "Familial, autosomal recessive" "" "see paper; ..., mental retardation, ptosis, and polydactyly" "" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "" "0000274253" "05611" "00380403" "00006" "Isolated (sporadic)" "8y" "global developmental delays; speech impaired; intellectual disability; motor impaired; dysmorphic features; behavioral deficits; GI/feeding abnormalities; ophthalmologic abnormalities; no muscle tone abnormalities; no movement/neurological disorder; no seizures; no microcephaly; MRI brain abnormalities" "1d" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000340092" "00325" "00451357" "00006" "Familial, autosomal dominant" "" "hereditary spastic paraplegia" "" "" "" "" "" "" "" "" "" "spastic paraplegia" "" "0000347143" "02262" "00458712" "00006" "Familial, X-linked recessive" "24y" "see paper; ..., 9y-bilateral visual loss; mild-moderate impairment visual acuity; bilateral foveal schisis, normal a-wave, reduction b-wave amplitudes in dark- and light- adapted full-field electroretinograms, abnormal oscillatory potentials; diffuse amplitude reduction in multifocal electroretinogram arrays" "09y" "" "" "" "" "" "" "" "RS1" "retinoschisis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184018" "00183058" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310670" "00309525" "1" "00006" "00006" "2020-08-28 16:43:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310671" "00309526" "1" "00006" "00006" "2020-08-28 16:43:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310672" "00309527" "1" "00006" "00006" "2020-08-28 16:43:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310673" "00309528" "1" "00006" "00006" "2020-08-28 16:43:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310674" "00309529" "1" "00006" "00006" "2020-08-28 16:43:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310675" "00309530" "1" "00006" "00006" "2020-08-28 16:43:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310676" "00309531" "1" "00006" "00006" "2020-08-28 16:43:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310677" "00309532" "1" "00006" "00006" "2020-08-28 16:43:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310678" "00309533" "1" "00006" "00006" "2020-08-28 16:43:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310679" "00309534" "1" "00006" "00006" "2020-08-28 16:43:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310680" "00309535" "1" "00006" "00006" "2020-08-28 16:43:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310681" "00309536" "1" "00006" "00006" "2020-08-28 17:00:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000381617" "00380403" "1" "00006" "00006" "2021-08-16 13:20:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000452956" "00451357" "1" "00006" "00006" "2024-05-31 12:01:46" "" "" "SEQ-PB" "DNA" "" "WGS" "0000460333" "00458712" "1" "00006" "00006" "2024-12-19 21:39:45" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000310670" "ARMC9" "0000310671" "ARMC9" "0000310672" "ARMC9" "0000310673" "ARMC9" "0000310674" "ARMC9" "0000310675" "ARMC9" "0000310676" "ARMC9" "0000310677" "ARMC9" "0000310678" "ARMC9" "0000310679" "ARMC9" "0000310680" "ARMC9" "0000310681" "ARMC9" ## 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 = 70 "{{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}}" "0000407956" "0" "50" "2" "232123777" "232123777" "subst" "0" "00006" "ARMC9_000001" "g.232123777G>A" "" "{PMID:de Ligt 2012:23033978}" "" "NM_025139.3:c.988G>A (Asp330Asn)" "variant not associated with phenotype" "De novo" "" "" "0" "" "" "g.231259064G>A" "" "VUS" "" "0000515034" "0" "50" "2" "232071007" "232071007" "subst" "0" "02327" "ARMC9_000002" "g.232071007G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.231206294G>T" "" "VUS" "" "0000515035" "0" "30" "2" "232121292" "232121292" "subst" "1.62425E-5" "01943" "ARMC9_000003" "g.232121292C>T" "" "" "" "ARMC9(NM_001271466.3):c.880-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.231256579C>T" "" "likely benign" "" "0000515036" "0" "30" "2" "232121336" "232121336" "subst" "4.06065E-6" "01804" "ARMC9_000004" "g.232121336A>G" "" "" "" "ARMC9(NM_001271466.1):c.914+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.231256623A>G" "" "likely benign" "" "0000515038" "0" "30" "2" "232143178" "232143178" "subst" "0.00629358" "01804" "ARMC9_000006" "g.232143178A>G" "" "" "" "ARMC9(NM_001271466.1):c.1551+7A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.231278465A>G" "" "likely benign" "" "0000515039" "0" "30" "2" "232146762" "232146762" "subst" "0.00150361" "01943" "ARMC9_000007" "g.232146762C>T" "" "" "" "ARMC9(NM_001271466.3):c.1552-10C>T, ARMC9(NM_025139.6):c.1552-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.231282049C>T" "" "likely benign" "" "0000515040" "0" "30" "2" "232209768" "232209768" "subst" "0" "01804" "ARMC9_000008" "g.232209768G>A" "" "" "" "ARMC9(NM_001271466.1):c.1960G>A (p.(Val654Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.231345056G>A" "" "likely benign" "" "0000654587" "0" "50" "2" "232104680" "232104680" "subst" "9.7561E-5" "01943" "ARMC9_000009" "g.232104680G>A" "" "" "" "ARMC9(NM_001271466.3):c.805G>A (p.V269I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.231239967G>A" "" "VUS" "" "0000676544" "0" "30" "2" "232079557" "232079557" "subst" "9.74881E-5" "01943" "ARMC9_000010" "g.232079557C>T" "" "" "" "ARMC9(NM_001271466.3):c.191C>T (p.A64V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676545" "0" "90" "2" "232160910" "232160910" "subst" "8.21274E-6" "01943" "ARMC9_000011" "g.232160910G>A" "" "" "" "ARMC9(NM_001271466.3):c.1718-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000685602" "21" "90" "2" "232079571" "232079571" "subst" "2.03059E-5" "00006" "ARMC9_000014" "g.232079571G>A" "" "{PMID:Van de Weghe 2017:28625504}" "" "" "" "Germline" "" "" "0" "" "" "g.231214858G>A" "" "pathogenic (recessive)" "" "0000685603" "21" "90" "2" "232079571" "232079571" "subst" "2.03059E-5" "00006" "ARMC9_000014" "g.232079571G>A" "" "{PMID:Van de Weghe 2017:28625504}" "" "" "" "Germline" "" "" "0" "" "" "g.231214858G>A" "" "pathogenic (recessive)" "" "0000685604" "3" "90" "2" "232071007" "232071007" "subst" "0" "00006" "ARMC9_000002" "g.232071007G>T" "" "{PMID:Van de Weghe 2017:28625504}" "" "" "" "Germline" "" "" "0" "" "" "g.231206294G>T" "" "pathogenic (recessive)" "" "0000685605" "21" "90" "2" "232127019" "232127019" "subst" "5.27932E-5" "00006" "ARMC9_000016" "g.232127019C>T" "" "{PMID:Van de Weghe 2017:28625504}" "" "" "" "Germline" "" "" "0" "" "" "g.231262306C>T" "" "pathogenic (recessive)" "" "0000685606" "11" "90" "2" "232079625" "232079625" "subst" "1.21824E-5" "00006" "ARMC9_000015" "g.232079625C>T" "" "{PMID:Van de Weghe 2017:28625504}" "" "" "" "Germline" "" "" "0" "" "" "g.231214912C>T" "" "pathogenic (recessive)" "" "0000685607" "11" "90" "2" "232079625" "232079625" "subst" "1.21824E-5" "00006" "ARMC9_000015" "g.232079625C>T" "" "{PMID:Van de Weghe 2017:28625504}" "" "" "" "Germline" "" "" "0" "" "" "g.231214912C>T" "" "pathogenic (recessive)" "" "0000685608" "21" "90" "2" "232141489" "232141489" "subst" "0" "00006" "ARMC9_000020" "g.232141489G>C" "" "{PMID:Van de Weghe 2017:28625504}" "" "" "" "Germline" "" "" "0" "" "" "g.231276776G>C" "" "pathogenic (recessive)" "" "0000685609" "21" "90" "2" "232141488" "232141488" "subst" "0" "00006" "ARMC9_000019" "g.232141488G>A" "" "{PMID:Van de Weghe 2017:28625504}" "" "" "" "Germline" "" "" "0" "" "" "g.231276775G>A" "" "pathogenic (recessive)" "" "0000685610" "3" "90" "2" "232127019" "232127019" "subst" "5.27932E-5" "00006" "ARMC9_000016" "g.232127019C>T" "" "{PMID:Van de Weghe 2017:28625504}" "" "" "" "Germline" "" "" "0" "" "" "g.231262306C>T" "" "pathogenic (recessive)" "" "0000685611" "3" "90" "2" "232146779" "232146779" "subst" "4.06187E-6" "00006" "ARMC9_000021" "g.232146779C>T" "" "{PMID:Van de Weghe 2017:28625504}" "" "" "" "Germline" "" "" "0" "" "" "g.231282066C>T" "" "pathogenic (recessive)" "" "0000685612" "3" "90" "2" "232146779" "232146779" "subst" "4.06187E-6" "00006" "ARMC9_000021" "g.232146779C>T" "" "{PMID:Van de Weghe 2017:28625504}" "" "" "" "Germline" "" "" "0" "" "" "g.231282066C>T" "" "pathogenic (recessive)" "" "0000685613" "11" "90" "2" "232141350" "232141350" "subst" "4.06379E-6" "00006" "ARMC9_000018" "g.232141350C>T" "" "{PMID:Van de Weghe 2017:28625504}" "" "" "" "Germline" "" "" "0" "" "" "g.231276637C>T" "" "pathogenic (recessive)" "" "0000685614" "11" "90" "2" "232141350" "232141350" "subst" "4.06379E-6" "00006" "ARMC9_000018" "g.232141350C>T" "" "{PMID:Van de Weghe 2017:28625504}" "" "" "" "Germline" "" "" "0" "" "" "g.231276637C>T" "" "pathogenic (recessive)" "" "0000685615" "11" "90" "2" "232137239" "232137247" "" "0" "00006" "ARMC9_000012" "g.[232137239_232137247dup;insGCATTA;232137248_232139754del]" "" "{PMID:Van de Weghe 2017:28625504}" "" "1211_1334del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685616" "21" "90" "2" "232127019" "232127019" "subst" "4.06101E-6" "00006" "ARMC9_000017" "g.232127019C>A" "" "{PMID:Van de Weghe 2017:28625504}" "" "" "" "Germline" "" "" "0" "" "" "g.231262306C>A" "" "pathogenic (recessive)" "" "0000685617" "21" "90" "2" "232127019" "232127019" "subst" "4.06101E-6" "00006" "ARMC9_000017" "g.232127019C>A" "" "{PMID:Van de Weghe 2017:28625504}" "" "" "" "Germline" "" "" "0" "" "" "g.231262306C>A" "" "pathogenic (recessive)" "" "0000685618" "21" "90" "2" "232127019" "232127019" "subst" "5.27932E-5" "00006" "ARMC9_000016" "g.232127019C>T" "" "{PMID:Van de Weghe 2017:28625504}" "" "" "" "Germline" "" "" "0" "" "" "g.231262306C>T" "" "pathogenic (recessive)" "" "0000685619" "21" "90" "2" "232127019" "232127019" "subst" "5.27932E-5" "00006" "ARMC9_000016" "g.232127019C>T" "" "{PMID:Van de Weghe 2017:28625504}" "" "" "" "Germline" "" "" "0" "" "" "g.231262306C>T" "" "pathogenic (recessive)" "" "0000685620" "3" "90" "2" "232104754" "232104754" "subst" "8.23527E-6" "00006" "ARMC9_000013" "g.232104754G>A" "" "{PMID:Kar 2018:29159890}" "" "" "effect on splicing from expression cloning minigene splicing assay" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000688687" "0" "50" "2" "232081369" "232081369" "subst" "0.000696691" "01943" "ARMC9_000022" "g.232081369G>A" "" "" "" "ARMC9(NM_001271466.3):c.367G>A (p.E123K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688688" "0" "50" "2" "232143149" "232143149" "subst" "0" "01943" "ARMC9_000023" "g.232143149T>G" "" "" "" "ARMC9(NM_001291656.1):c.1529T>G (p.L510R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688689" "0" "30" "2" "232156083" "232156083" "subst" "0.000235655" "01943" "ARMC9_000024" "g.232156083A>G" "" "" "" "ARMC9(NM_001291656.1):c.1644A>G (p.L548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688690" "0" "50" "2" "232156105" "232156105" "subst" "5.68888E-5" "01943" "ARMC9_000025" "g.232156105A>G" "" "" "" "ARMC9(NM_001291656.1):c.1666A>G (p.N556D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688691" "0" "50" "2" "232220620" "232220620" "subst" "0" "01943" "ARMC9_000026" "g.232220620C>T" "" "" "" "ARMC9(NM_001271466.3):c.2105C>T (p.T702I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718608" "0" "30" "2" "232079626" "232079626" "subst" "0.000158372" "01943" "ARMC9_000027" "g.232079626G>A" "" "" "" "ARMC9(NM_001271466.3):c.260G>A (p.R87Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718609" "0" "50" "2" "232100086" "232100086" "subst" "0" "02325" "ARMC9_000028" "g.232100086G>A" "" "" "" "ARMC9(NM_025139.6):c.772G>A (p.G258S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718610" "0" "50" "2" "232143122" "232143122" "subst" "1.62454E-5" "01943" "ARMC9_000029" "g.232143122G>T" "" "" "" "ARMC9(NM_001271466.3):c.1502G>T (p.G501V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718611" "0" "30" "2" "232156080" "232156080" "subst" "1.21895E-5" "01943" "ARMC9_000030" "g.232156080C>T" "" "" "" "ARMC9(NM_001352755.1):c.1641C>T (p.I547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718612" "0" "50" "2" "232209714" "232209714" "subst" "0.00241436" "01943" "ARMC9_000031" "g.232209714C>T" "" "" "" "ARMC9(NM_001271466.3):c.1906C>T (p.R636W), ARMC9(NM_001352754.2):c.1906C>T (p.(Arg636Trp)), ARMC9(NM_025139.6):c.1906C>T (p.R636W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000795112" "0" "50" "2" "232123777" "232123777" "subst" "0" "00006" "ARMC9_000001" "g.232123777G>A" "" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000800473" "0" "30" "2" "232081344" "232081344" "subst" "0" "01943" "ARMC9_000032" "g.232081344C>T" "" "" "" "ARMC9(NM_001271466.3):c.349-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800474" "0" "90" "2" "232156064" "232156064" "subst" "0" "02325" "ARMC9_000033" "g.232156064A>G" "" "" "" "ARMC9(NM_025139.6):c.1627-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800475" "0" "30" "2" "232220601" "232220601" "subst" "0.00125197" "01943" "ARMC9_000034" "g.232220601A>G" "" "" "" "ARMC9(NM_001271466.3):c.2086A>G (p.R696G), ARMC9(NM_001271466.4):c.2086A>G (p.R696G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849788" "0" "10" "2" "232087474" "232087474" "subst" "0.999918" "02326" "ARMC9_000035" "g.232087474A>G" "" "" "" "ARMC9(NM_025139.6):c.538_539delATinsGT (p.I180V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000849789" "0" "50" "2" "232104710" "232104710" "subst" "3.66265E-5" "01943" "ARMC9_000036" "g.232104710C>T" "" "" "" "ARMC9(NM_001291656.1):c.835C>T (p.R279W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849790" "0" "10" "2" "232209777" "232209777" "subst" "0.00179872" "02326" "ARMC9_000039" "g.232209777G>A" "" "" "" "ARMC9(NM_025139.6):c.1969G>A (p.G657S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858398" "0" "50" "2" "232123780" "232123780" "subst" "8.12321E-6" "01943" "ARMC9_000037" "g.232123780C>T" "" "" "" "ARMC9(NM_001291656.1):c.991C>T (p.R331C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858399" "0" "30" "2" "232137693" "232137693" "subst" "0.000507862" "01943" "ARMC9_000038" "g.232137693A>G" "" "" "" "ARMC9(NM_001291656.1):c.1236A>G (p.T412=), ARMC9(NM_025139.6):c.1236A>G (p.T412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885009" "0" "90" "2" "232079625" "232079625" "subst" "1.21824E-5" "02326" "ARMC9_000015" "g.232079625C>T" "" "" "" "ARMC9(NM_025139.6):c.259C>T (p.R87*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885010" "0" "30" "2" "232099940" "232099940" "subst" "0.00235865" "02326" "ARMC9_000040" "g.232099940T>C" "" "" "" "ARMC9(NM_025139.6):c.626T>C (p.I209T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885011" "0" "10" "2" "232135728" "232135728" "subst" "0.00145422" "02326" "ARMC9_000041" "g.232135728G>A" "" "" "" "ARMC9(NM_025139.6):c.1153G>A (p.D385N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885012" "0" "30" "2" "232141438" "232141438" "subst" "0.000507858" "02326" "ARMC9_000042" "g.232141438C>T" "" "" "" "ARMC9(NM_025139.6):c.1424C>T (p.T475M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885013" "0" "30" "2" "232141451" "232141451" "subst" "0.000101591" "02326" "ARMC9_000043" "g.232141451G>A" "" "" "" "ARMC9(NM_025139.6):c.1437G>A (p.S479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885014" "0" "30" "2" "232146762" "232146762" "subst" "0.00150361" "02326" "ARMC9_000007" "g.232146762C>T" "" "" "" "ARMC9(NM_001271466.3):c.1552-10C>T, ARMC9(NM_025139.6):c.1552-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885015" "0" "30" "2" "232156062" "232156062" "subst" "0.0027808" "02326" "ARMC9_000044" "g.232156062C>T" "" "" "" "ARMC9(NM_025139.6):c.1627-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885016" "0" "30" "2" "232209714" "232209714" "subst" "0.00241436" "02326" "ARMC9_000031" "g.232209714C>T" "" "" "" "ARMC9(NM_001271466.3):c.1906C>T (p.R636W), ARMC9(NM_001352754.2):c.1906C>T (p.(Arg636Trp)), ARMC9(NM_025139.6):c.1906C>T (p.R636W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928559" "0" "30" "2" "232123768" "232123768" "subst" "0.000385787" "02326" "ARMC9_000045" "g.232123768T>C" "" "" "" "ARMC9(NM_001352754.2):c.979T>C (p.(Leu327Leu)), ARMC9(NM_025139.6):c.979T>C (p.L327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947789" "0" "30" "2" "232127007" "232127007" "subst" "0.000503615" "02326" "ARMC9_000046" "g.232127007T>G" "" "" "" "ARMC9(NM_025139.6):c.1027-12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947790" "0" "30" "2" "232127008" "232127008" "subst" "0.000503664" "02326" "ARMC9_000047" "g.232127008C>A" "" "" "" "ARMC9(NM_025139.6):c.1027-11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947791" "0" "30" "2" "232137693" "232137693" "subst" "0.000507862" "02326" "ARMC9_000038" "g.232137693A>G" "" "" "" "ARMC9(NM_001291656.1):c.1236A>G (p.T412=), ARMC9(NM_025139.6):c.1236A>G (p.T412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947792" "0" "30" "2" "232146758" "232146758" "dup" "0" "02326" "ARMC9_000048" "g.232146758dup" "" "" "" "ARMC9(NM_025139.6):c.1552-14dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947793" "0" "30" "2" "232156084" "232156084" "subst" "0.0105535" "01804" "ARMC9_000049" "g.232156084C>T" "" "" "" "ARMC9(NM_001271466.1):c.1645C>T (p.(Arg549Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947794" "0" "30" "2" "232220601" "232220601" "subst" "0.00125197" "02326" "ARMC9_000034" "g.232220601A>G" "" "" "" "ARMC9(NM_001271466.3):c.2086A>G (p.R696G), ARMC9(NM_001271466.4):c.2086A>G (p.R696G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975079" "0" "30" "2" "232123768" "232123768" "subst" "0.000385787" "01804" "ARMC9_000045" "g.232123768T>C" "" "" "" "ARMC9(NM_001352754.2):c.979T>C (p.(Leu327Leu)), ARMC9(NM_025139.6):c.979T>C (p.L327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975080" "0" "30" "2" "232209714" "232209714" "subst" "0.00241436" "01804" "ARMC9_000031" "g.232209714C>T" "" "" "" "ARMC9(NM_001271466.3):c.1906C>T (p.R636W), ARMC9(NM_001352754.2):c.1906C>T (p.(Arg636Trp)), ARMC9(NM_025139.6):c.1906C>T (p.R636W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987378" "11" "70" "2" "232212716" "232548718" "dup" "0" "00006" "ARMC9_000050" "g.232212716_232548718dup" "" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "" "hg38 chr2:231,348,004-231,684,006" "RNA upregulation several genes in duplicated region" "Germline" "yes" "" "0" "" "" "g.231348004_231684006dup" "" "VUS (!)" "" "0001019331" "0" "90" "2" "232087510" "232087510" "del" "0" "00006" "ARMC9_000051" "g.232087510del" "" "{PMID:Azevedo 2024:38172268}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.231222797del" "" "pathogenic (recessive)" "" "0001033090" "0" "70" "2" "232104754" "232104754" "subst" "8.23527E-6" "01804" "ARMC9_000013" "g.232104754G>A" "" "" "" "ARMC9(NM_001352754.2):c.879G>A (p.(Thr293=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001033091" "0" "50" "2" "232220533" "232220533" "subst" "0" "01804" "ARMC9_000052" "g.232220533C>G" "" "" "" "ARMC9(NM_001352754.2):c.2018C>G (p.(Pro673Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033092" "0" "70" "2" "232225494" "232225494" "subst" "0" "01804" "ARMC9_000053" "g.232225494G>A" "" "" "" "ARMC9(NM_001352754.2):c.2160G>A (p.(Trp720*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ARMC9 ## Count = 110 "{{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}}" "0000407956" "00002883" "00" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Asp330Asn)" "" "0000515034" "00002883" "50" "51" "5" "51" "5" "c.51+5G>T" "r.spl?" "p.?" "" "0000515034" "00025933" "50" "51" "5" "51" "5" "c.51+5G>T" "r.spl?" "p.?" "" "0000515035" "00002883" "30" "880" "-7" "880" "-7" "c.880-7C>T" "r.(=)" "p.(=)" "" "0000515035" "00025933" "30" "880" "-7" "880" "-7" "c.880-7C>T" "r.(=)" "p.(=)" "" "0000515036" "00002883" "30" "914" "3" "914" "3" "c.914+3A>G" "r.spl?" "p.?" "" "0000515036" "00025933" "30" "914" "3" "914" "3" "c.914+3A>G" "r.spl?" "p.?" "" "0000515038" "00002883" "30" "1551" "7" "1551" "7" "c.1551+7A>G" "r.(=)" "p.(=)" "" "0000515038" "00025933" "30" "1551" "7" "1551" "7" "c.1551+7A>G" "r.(=)" "p.(=)" "" "0000515039" "00002883" "30" "1552" "-10" "1552" "-10" "c.1552-10C>T" "r.(=)" "p.(=)" "" "0000515039" "00025933" "30" "1552" "-10" "1552" "-10" "c.1552-10C>T" "r.(=)" "p.(=)" "" "0000515040" "00002883" "30" "1960" "0" "1960" "0" "c.1960G>A" "r.(?)" "p.(Val654Ile)" "" "0000515040" "00025933" "30" "1960" "0" "1960" "0" "c.1960G>A" "r.(?)" "p.(Val654Ile)" "" "0000654587" "00002883" "50" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Val269Ile)" "" "0000654587" "00025933" "50" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Val269Ile)" "" "0000676544" "00002883" "30" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Ala64Val)" "" "0000676544" "00025933" "30" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Ala64Val)" "" "0000676545" "00002883" "90" "1718" "-1" "1718" "-1" "c.1718-1G>A" "r.spl?" "p.?" "" "0000676545" "00025933" "90" "1718" "-1" "1718" "-1" "c.1718-1G>A" "r.spl?" "p.?" "" "0000685602" "00002883" "90" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Gly69Arg)" "" "0000685603" "00002883" "90" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Gly69Arg)" "" "0000685604" "00002883" "90" "51" "5" "51" "5" "c.51+5G>T" "r.spl" "p.?" "" "0000685605" "00002883" "90" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Cys)" "" "0000685606" "00002883" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87*)" "" "0000685607" "00002883" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87*)" "" "0000685608" "00002883" "90" "1474" "1" "1474" "1" "c.1474+1G>C" "r.spl" "p.?" "" "0000685609" "00002883" "90" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Gly492Arg)" "" "0000685610" "00002883" "90" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Cys)" "" "0000685611" "00002883" "90" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Pro520Leu)" "" "0000685612" "00002883" "90" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Pro520Leu)" "" "0000685613" "00002883" "90" "1336" "0" "1336" "0" "c.1336C>T" "r.(?)" "p.(Arg446Cys)" "" "0000685614" "00002883" "90" "1336" "0" "1336" "0" "c.1336C>T" "r.(?)" "p.(Arg446Cys)" "" "0000685615" "00002883" "90" "1211" "-429" "1211" "-421" "c.[1211-429_1211-421dup;insGCATTA;1211-420_1335-1595del]" "r.?" "p.(Arg405Alafs*7)" "13i_14i" "0000685616" "00002883" "90" "1027" "0" "1027" "0" "c.1027C>A" "r.(?)" "p.(Arg343Ser)" "" "0000685617" "00002883" "90" "1027" "0" "1027" "0" "c.1027C>A" "r.(?)" "p.(Arg343Ser)" "" "0000685618" "00002883" "90" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Cys)" "" "0000685619" "00002883" "90" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Cys)" "" "0000685620" "00002883" "90" "879" "0" "879" "0" "c.879G>A" "r.(781_879del)" "p.(Ile261Glufs*14)" "" "0000688687" "00002883" "50" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Glu123Lys)" "" "0000688687" "00025933" "50" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Glu123Lys)" "" "0000688688" "00002883" "50" "1529" "0" "1529" "0" "c.1529T>G" "r.(?)" "p.(Leu510Arg)" "" "0000688688" "00025933" "50" "1529" "0" "1529" "0" "c.1529T>G" "r.(?)" "p.(Leu510Arg)" "" "0000688689" "00002883" "30" "1644" "0" "1644" "0" "c.1644A>G" "r.(?)" "p.(Leu548=)" "" "0000688689" "00025933" "30" "1644" "0" "1644" "0" "c.1644A>G" "r.(?)" "p.(Leu548=)" "" "0000688690" "00002883" "50" "1666" "0" "1666" "0" "c.1666A>G" "r.(?)" "p.(Asn556Asp)" "" "0000688690" "00025933" "50" "1666" "0" "1666" "0" "c.1666A>G" "r.(?)" "p.(Asn556Asp)" "" "0000688691" "00002883" "50" "12812" "0" "12812" "0" "c.*10814C>T" "r.(=)" "p.(=)" "" "0000688691" "00025933" "50" "2105" "0" "2105" "0" "c.2105C>T" "r.(?)" "p.(Thr702Ile)" "" "0000718608" "00002883" "30" "260" "0" "260" "0" "c.260G>A" "r.(?)" "p.(Arg87Gln)" "" "0000718608" "00025933" "30" "260" "0" "260" "0" "c.260G>A" "r.(?)" "p.(Arg87Gln)" "" "0000718609" "00002883" "50" "772" "0" "772" "0" "c.772G>A" "r.(?)" "p.(Gly258Ser)" "" "0000718609" "00025933" "50" "772" "0" "772" "0" "c.772G>A" "r.(?)" "p.(Gly258Ser)" "" "0000718610" "00002883" "50" "1502" "0" "1502" "0" "c.1502G>T" "r.(?)" "p.(Gly501Val)" "" "0000718610" "00025933" "50" "1502" "0" "1502" "0" "c.1502G>T" "r.(?)" "p.(Gly501Val)" "" "0000718611" "00002883" "30" "1641" "0" "1641" "0" "c.1641C>T" "r.(?)" "p.(Ile547=)" "" "0000718611" "00025933" "30" "1641" "0" "1641" "0" "c.1641C>T" "r.(?)" "p.(Ile547=)" "" "0000718612" "00002883" "50" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Arg636Trp)" "" "0000718612" "00025933" "50" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Arg636Trp)" "" "0000795112" "00002883" "50" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Asp330Asn)" "" "0000800473" "00002883" "30" "349" "-7" "349" "-7" "c.349-7C>T" "r.(=)" "p.(=)" "" "0000800473" "00025933" "30" "349" "-7" "349" "-7" "c.349-7C>T" "r.(=)" "p.(=)" "" "0000800474" "00002883" "90" "1627" "-2" "1627" "-2" "c.1627-2A>G" "r.spl?" "p.?" "" "0000800474" "00025933" "90" "1627" "-2" "1627" "-2" "c.1627-2A>G" "r.spl?" "p.?" "" "0000800475" "00002883" "30" "12793" "0" "12793" "0" "c.*10795A>G" "r.(=)" "p.(=)" "" "0000800475" "00025933" "30" "2086" "0" "2086" "0" "c.2086A>G" "r.(?)" "p.(Arg696Gly)" "" "0000849788" "00002883" "10" "538" "0" "538" "0" "c.538=" "r.(=)" "p.(Glu180=)" "" "0000849788" "00025933" "10" "538" "0" "538" "0" "c.538=" "r.(=)" "p.(Glu180=)" "" "0000849789" "00002883" "50" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Trp)" "" "0000849789" "00025933" "50" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Trp)" "" "0000849790" "00002883" "10" "1969" "0" "1969" "0" "c.1969G>A" "r.(?)" "p.(Gly657Ser)" "" "0000849790" "00025933" "10" "1969" "0" "1969" "0" "c.1969G>A" "r.(?)" "p.(Gly657Ser)" "" "0000858398" "00002883" "50" "991" "0" "991" "0" "c.991C>T" "r.(?)" "p.(Arg331Cys)" "" "0000858398" "00025933" "50" "991" "0" "991" "0" "c.991C>T" "r.(?)" "p.(Arg331Cys)" "" "0000858399" "00002883" "30" "1236" "0" "1236" "0" "c.1236A>G" "r.(?)" "p.(Thr412=)" "" "0000858399" "00025933" "30" "1236" "0" "1236" "0" "c.1236A>G" "r.(?)" "p.(Thr412=)" "" "0000885009" "00002883" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87*)" "" "0000885009" "00025933" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87*)" "" "0000885010" "00002883" "30" "626" "0" "626" "0" "c.626T>C" "r.(?)" "p.(Ile209Thr)" "" "0000885010" "00025933" "30" "626" "0" "626" "0" "c.626T>C" "r.(?)" "p.(Ile209Thr)" "" "0000885011" "00002883" "10" "1153" "0" "1153" "0" "c.1153G>A" "r.(?)" "p.(Asp385Asn)" "" "0000885011" "00025933" "10" "1153" "0" "1153" "0" "c.1153G>A" "r.(?)" "p.(Asp385Asn)" "" "0000885012" "00002883" "30" "1424" "0" "1424" "0" "c.1424C>T" "r.(?)" "p.(Thr475Met)" "" "0000885012" "00025933" "30" "1424" "0" "1424" "0" "c.1424C>T" "r.(?)" "p.(Thr475Met)" "" "0000885013" "00002883" "30" "1437" "0" "1437" "0" "c.1437G>A" "r.(?)" "p.(Ser479=)" "" "0000885013" "00025933" "30" "1437" "0" "1437" "0" "c.1437G>A" "r.(?)" "p.(Ser479=)" "" "0000885014" "00002883" "30" "1552" "-10" "1552" "-10" "c.1552-10C>T" "r.(=)" "p.(=)" "" "0000885014" "00025933" "30" "1552" "-10" "1552" "-10" "c.1552-10C>T" "r.(=)" "p.(=)" "" "0000885015" "00002883" "30" "1627" "-4" "1627" "-4" "c.1627-4C>T" "r.spl?" "p.?" "" "0000885015" "00025933" "30" "1627" "-4" "1627" "-4" "c.1627-4C>T" "r.spl?" "p.?" "" "0000885016" "00002883" "30" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Arg636Trp)" "" "0000885016" "00025933" "30" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Arg636Trp)" "" "0000928559" "00002883" "30" "979" "0" "979" "0" "c.979T>C" "r.(?)" "p.(=)" "" "0000947789" "00002883" "30" "1027" "-12" "1027" "-12" "c.1027-12T>G" "r.(=)" "p.(=)" "" "0000947790" "00002883" "30" "1027" "-11" "1027" "-11" "c.1027-11C>A" "r.(=)" "p.(=)" "" "0000947791" "00002883" "30" "1236" "0" "1236" "0" "c.1236A>G" "r.(?)" "p.(Thr412=)" "" "0000947791" "00025933" "30" "1236" "0" "1236" "0" "c.1236A>G" "r.(?)" "p.(Thr412=)" "" "0000947792" "00002883" "30" "1552" "-14" "1552" "-14" "c.1552-14dup" "r.(=)" "p.(=)" "" "0000947793" "00002883" "30" "1645" "0" "1645" "0" "c.1645C>T" "r.(?)" "p.(Arg549Cys)" "" "0000947794" "00002883" "30" "12793" "0" "12793" "0" "c.*10795A>G" "r.(=)" "p.(=)" "" "0000947794" "00025933" "30" "2086" "0" "2086" "0" "c.2086A>G" "r.(?)" "p.(Arg696Gly)" "" "0000975079" "00002883" "30" "979" "0" "979" "0" "c.979T>C" "r.(?)" "p.(=)" "" "0000975080" "00002883" "30" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Arg636Trp)" "" "0000975080" "00025933" "30" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Arg636Trp)" "" "0000987378" "00002883" "70" "0" "0" "0" "0" "-" "r.?" "p.?" "21_" "0000987378" "00025933" "70" "0" "0" "0" "0" "-" "r.?" "p.?" "" "0001019331" "00002883" "90" "574" "0" "574" "0" "c.574del" "r.(?)" "p.(Thr192Argfs*5)" "" "0001019331" "00025933" "90" "574" "0" "574" "0" "c.574del" "r.(?)" "p.(Thr192Argfs*5)" "" "0001033090" "00002883" "70" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(=)" "" "0001033091" "00002883" "50" "12725" "0" "12725" "0" "c.*10727C>G" "r.(=)" "p.(=)" "" "0001033092" "00002883" "70" "17686" "0" "17686" "0" "c.*15688G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000184018" "0000407956" "0000310670" "0000685602" "0000310670" "0000685613" "0000310671" "0000685603" "0000310671" "0000685614" "0000310672" "0000685604" "0000310673" "0000685605" "0000310673" "0000685615" "0000310674" "0000685606" "0000310674" "0000685616" "0000310675" "0000685607" "0000310675" "0000685617" "0000310676" "0000685608" "0000310676" "0000685618" "0000310677" "0000685609" "0000310677" "0000685619" "0000310678" "0000685610" "0000310679" "0000685611" "0000310680" "0000685612" "0000310681" "0000685620" "0000381617" "0000795112" "0000452956" "0000987378" "0000460333" "0001019331"