### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RMND1) # 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}}" "RMND1" "required for meiotic nuclear division 1 homolog (S. cerevisiae)" "6" "q25.1" "unknown" "NG_033031.1" "UD_133034074873" "" "https://www.LOVD.nl/RMND1" "" "1" "21176" "55005" "614917" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/RMND1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-12-31 16:45:13" "00006" "2025-10-10 16:21:07" ## 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}}" "00024214" "RMND1" "transcript variant 1" "002" "NM_017909.3" "" "NP_060379.2" "" "" "" "-180" "1823" "1350" "151773316" "151725897" "00006" "2016-12-31 16:46:09" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "03790" "COXPD11" "combined oxidative phosphorylation deficiency, type 11 (COXPD-11)" "AR" "614922" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RMND1" "00139" "RMND1" "03790" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00080919" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00094007" "" "" "" "1" "" "00006" "{PMID:Ng 2016:27412952}, {DOI:Ng 2016:10.1136/jmedgenet-2016-103910}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "" "?" "0" "" "" "" "" "00094008" "" "" "" "1" "" "00006" "{PMID:Ng 2016:27412952}, {DOI:Ng 2016:10.1136/jmedgenet-2016-103910}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "" "?" "0" "" "" "" "" "00094009" "" "" "" "1" "" "00006" "{PMID:Ng 2016:27412952}, {DOI:Ng 2016:10.1136/jmedgenet-2016-103910}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "" "5y9m" "0" "" "" "" "" "00094010" "" "" "" "1" "" "00006" "{PMID:Ng 2016:27412952}, {DOI:Ng 2016:10.1136/jmedgenet-2016-103910}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "" "6m" "0" "" "" "" "" "00094011" "" "" "" "1" "" "00006" "{PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "" "?" "0" "" "" "" "" "00094012" "" "" "" "1" "" "00006" "{PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "" "?" "0" "" "" "" "" "00094013" "" "" "" "1" "" "00006" "{PMID:Ng 2016:27412952}, {DOI:Ng 2016:10.1136/jmedgenet-2016-103910}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "" "1y4m" "0" "" "" "" "" "00094014" "" "" "" "1" "" "00006" "{PMID:Janer 2015:25604853}, {DOI:Janer 2015:10.1038/ejhg.2014.293}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "" "4y2m" "0" "" "" "" "" "00094015" "" "" "" "1" "" "00006" "{PMID:Ng 2016:27412952}, {DOI:Ng 2016:10.1136/jmedgenet-2016-103910}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "" "?" "0" "" "" "" "" "00094016" "" "" "" "1" "" "00006" "{PMID:Ng 2016:27412952}, {DOI:Ng 2016:10.1136/jmedgenet-2016-103910}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "" "?" "0" "" "" "" "" "00094017" "" "" "" "1" "" "00006" "{PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "" "1y9m" "0" "" "" "" "" "00094018" "" "" "" "1" "" "00006" "{PMID:Ng 2016:27412952}, {DOI:Ng 2016:10.1136/jmedgenet-2016-103910}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "" "?" "0" "" "" "" "" "00103748" "" "" "" "1" "" "01602" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "M" "" "Switzerland" "32y" "0" "" "" "Africa" "SUDS050" "00293998" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296568" "" "" "" "1" "" "00006" "{PMID:Taylor 2014:25058219}" "" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Pat1" "00296569" "" "" "" "1" "" "00006" "{PMID:Kemp 2011:21169334}, {PMID:Taylor 2014:25058219}" "" "M" "yes" "United Kingdom (Great Britain)" "1y" "0" "" "" "Pakistan" "Pat2" "00296570" "" "" "" "1" "" "00006" "{PMID:Taylor 2014:25058219}" "" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Pat3" "00296571" "" "" "" "1" "" "00006" "{PMID:Kemp 2011:21169334}, {PMID:Taylor 2014:25058219}" "" "F" "yes" "Turkey" "10y" "0" "" "" "" "Pat4" "00296572" "" "" "" "1" "" "00006" "{PMID:Taylor 2014:25058219}" "" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Pat5" "00296573" "" "" "" "1" "" "00006" "{PMID:Taylor 2014:25058219}" "" "M" "" "United Kingdom (Great Britain)" "5y" "0" "" "" "British" "Pat6" "00467289" "" "" "" "1" "" "00006" "{PMID:Soden 2014:25473036}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "CMH259" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00080919" "03790" "00094007" "03790" "00094008" "03790" "00094009" "03790" "00094010" "03790" "00094011" "03790" "00094012" "03790" "00094013" "03790" "00094014" "03790" "00094015" "03790" "00094016" "03790" "00094017" "03790" "00094018" "03790" "00103748" "05166" "00293998" "00198" "00296568" "00198" "00296569" "00198" "00296570" "00198" "00296571" "00198" "00296572" "00198" "00296573" "00198" "00467289" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03790, 05166 ## Count = 22 "{{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}}" "0000060488" "03790" "00080919" "01758" "Familial, autosomal recessive" "" "Combined oxidative phosphorylation deficiency 11 (OMIM:614922)" "" "" "" "" "" "" "" "" "" "" "" "0000072399" "03790" "00094007" "00006" "Familial, autosomal recessive" "" "developmental delay; autistic spectrum disorder; sensorineural hearing loss; febrile seizure; hypotonia; lactic acidosis; no renal abnormalities" "2y" "" "" "" "" "" "" "" "" "" "" "0000072400" "03790" "00094008" "00006" "Familial, autosomal recessive" "" "developmental delay; autistic spectrum disorder; sensorineural hearing loss; febrile seizure; hypotonia; no lactic acidosis; no renal abnormalities; onset neonatal period" "" "" "" "" "" "" "" "" "" "" "" "0000072401" "03790" "00094009" "00006" "Familial, autosomal recessive" "" "developmental delay; no autistic spectrum disorder; sensorineural hearing loss; no seizures; hypotonia; lactic acidosis; renal abnormalities; onset neonatal period" "" "" "" "" "" "" "" "" "" "" "" "0000072402" "03790" "00094010" "00006" "Familial, autosomal recessive" "" "developmental delay; no autistic spectrum disorder; sensorineural hearing loss; no seizures; hypotonia; lactic acidosis; renal abnormalities; onset neonatal period" "" "" "" "" "" "" "" "" "" "" "" "0000072403" "03790" "00094011" "00006" "Familial, autosomal recessive" "" "developmental delay; no autistic spectrum disorder; sensorineural hearing loss; no seizures; hypotonia; lactic acidosis; renal abnormalities; onset neonatal period" "" "" "" "" "" "" "" "" "" "" "" "0000072404" "03790" "00094012" "00006" "Familial, autosomal recessive" "" "developmental delay; no autistic spectrum disorder; sensorineural hearing loss; no seizures; hypotonia; lactic acidosis; renal abnormalities" "2m" "" "" "" "" "" "" "" "" "" "" "0000072405" "03790" "00094013" "00006" "Familial, autosomal recessive" "" "developmental delay; sensorineural hearing loss; no seizures; hypotonia; lactic acidosis; renal abnormalities" "6m" "" "" "" "" "" "" "" "" "" "" "0000072406" "03790" "00094014" "00006" "Familial, autosomal recessive" "" "developmental delay; no autistic spectrum disorder; sensorineural hearing loss; seizures; hypotonia; lactic acidosis; renal abnormalities; onset prenatal period" "" "" "" "" "" "" "" "" "" "" "" "0000072407" "03790" "00094015" "00006" "Familial, autosomal recessive" "" "developmental delay; autistic spectrum disorder; sensorineural hearing loss; seizures; hypotonia; lactic acidosis; renal abnormalities" "4m" "" "" "" "" "" "" "" "" "" "" "0000072408" "03790" "00094016" "00006" "Familial, autosomal recessive" "" "developmental delay; no autistic spectrum disorder; sensorineural hearing loss; no seizures; hypotonia; lactic acidosis; renal abnormalities; onset neonatal period" "" "" "" "" "" "" "" "" "" "" "" "0000072409" "03790" "00094017" "00006" "Familial, autosomal recessive" "" "developmental delay; no autistic spectrum disorder; sensorineural hearing loss; seizures; hypotonia; lactic acidosis; renal abnormalities; onset prenatal period" "" "" "" "" "" "" "" "" "" "" "" "0000072410" "03790" "00094018" "00006" "Familial, autosomal recessive" "" "developmental delay; no autistic spectrum disorder; sensorineural hearing loss; seizures; hypotonia; lactic acidosis; renal abnormalities" "2m" "" "" "" "" "" "" "" "" "" "" "0000081684" "05166" "00103748" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000223974" "00198" "00296568" "00006" "Familial, autosomal recessive" "4y" "muscle not affected; central nervous system not affected; heart not affected; liver not affected; deafness, dysplastic kidneys, lactic acidosis" "6m" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000223975" "00198" "00296569" "00006" "Familial, autosomal recessive" "1y" "deceased; muscle affected; central nervous system affected; heart not affected; liver not affected; deafness, anaemia& lactic acidosis" "3m" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000223976" "00198" "00296570" "00006" "Familial, autosomal recessive" "5y" "muscle affected; central nervous system affected; heart affected; liver not affected; deafness, renal dysplasia, lactic acidosis" "18m" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000223977" "00198" "00296571" "00006" "Familial, autosomal recessive" "10y" "deceased; muscle not affected; central nervous system not affected; heart affected; liver not affected; deafness, renal tubular acidosis" "6m" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000223978" "00198" "00296572" "00006" "Familial, autosomal recessive" "18m" "muscle not affected; central nervous system not affected; heart not affected; liver not affected; deafness, lactic acidosis" "<1m" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000223979" "00198" "00296573" "00006" "Unknown" "5y" "deceased; muscle affected; central nervous system not affected; heart not affected; liver not affected; seizures, deafness, renal tubular acidosis" "18m" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000322145" "05166" "00103748" "01602" "Unknown" "" "SUDEP" "" "" "" "" "" "" "" "" "" "" "" "0000352496" "00198" "00467289" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "COPD" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081031" "00080919" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000094175" "00094007" "1" "00006" "00006" "2016-12-31 17:35:05" "" "" "SEQ" "DNA" "" "" "0000094176" "00094008" "1" "00006" "00006" "2016-12-31 17:35:05" "" "" "SEQ" "DNA" "" "" "0000094177" "00094009" "1" "00006" "00006" "2016-12-31 17:35:05" "" "" "SEQ" "DNA" "" "" "0000094178" "00094010" "1" "00006" "00006" "2016-12-31 17:35:05" "" "" "SEQ" "DNA" "" "" "0000094179" "00094011" "1" "00006" "00006" "2016-12-31 17:35:05" "" "" "SEQ" "DNA" "" "" "0000094180" "00094012" "1" "00006" "00006" "2016-12-31 17:35:05" "" "" "SEQ" "DNA" "" "" "0000094181" "00094013" "1" "00006" "00006" "2016-12-31 17:35:05" "" "" "SEQ" "DNA" "" "" "0000094182" "00094014" "1" "00006" "00006" "2016-12-31 17:35:05" "" "" "SEQ" "DNA" "" "" "0000094183" "00094015" "1" "00006" "00006" "2016-12-31 17:35:05" "" "" "SEQ" "DNA" "" "" "0000094184" "00094016" "1" "00006" "00006" "2016-12-31 17:35:05" "" "" "SEQ" "DNA" "" "" "0000094185" "00094017" "1" "00006" "00006" "2016-12-31 17:35:05" "" "" "SEQ" "DNA" "" "" "0000094186" "00094018" "1" "00006" "00006" "2016-12-31 17:35:05" "" "" "SEQ" "DNA" "" "" "0000295166" "00293998" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297678" "00296568" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297679" "00296569" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297680" "00296570" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297681" "00296571" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297682" "00296572" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297683" "00296573" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432956" "00103748" "1" "01602" "01602" "2023-02-14 14:21:57" "" "" "SEQ-NG" "DNA" "" "" "0000468952" "00467289" "1" "00006" "00006" "2025-10-10 16:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000081031" "RMND1" "0000094175" "RMND1" "0000094176" "RMND1" "0000094177" "RMND1" "0000094178" "RMND1" "0000094179" "RMND1" "0000094180" "RMND1" "0000094181" "RMND1" "0000094182" "RMND1" "0000094183" "RMND1" "0000094184" "RMND1" "0000094185" "RMND1" "0000094186" "RMND1" ## 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 = 56 "{{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}}" "0000130117" "3" "90" "6" "151726371" "151726371" "subst" "2.03396E-5" "01758" "RMND1_000001" "g.151726371C>G" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.151405236C>G" "" "pathogenic" "" "0000152710" "3" "90" "6" "151751289" "151751289" "subst" "0.000188156" "00006" "RMND1_000002" "g.151751289T>C" "" "{PMID:Ng 2016:27412952}, {DOI:Ng 2016:10.1136/jmedgenet-2016-103910}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "Germline" "" "" "0" "" "" "g.151430154T>C" "" "pathogenic" "" "0000152711" "3" "90" "6" "151751289" "151751289" "subst" "0.000188156" "00006" "RMND1_000002" "g.151751289T>C" "" "{PMID:Ng 2016:27412952}, {DOI:Ng 2016:10.1136/jmedgenet-2016-103910}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "Germline" "" "" "0" "" "" "g.151430154T>C" "" "pathogenic" "" "0000152712" "3" "90" "6" "151726371" "151726371" "subst" "2.03396E-5" "00006" "RMND1_000001" "g.151726371C>G" "" "{PMID:Ng 2016:27412952}, {DOI:Ng 2016:10.1136/jmedgenet-2016-103910}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "Germline" "" "" "0" "" "" "g.151405236C>G" "" "pathogenic" "" "0000152713" "3" "90" "6" "151726371" "151726371" "subst" "2.03396E-5" "00006" "RMND1_000001" "g.151726371C>G" "" "{PMID:Ng 2016:27412952}, {DOI:Ng 2016:10.1136/jmedgenet-2016-103910}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "Germline" "" "" "0" "" "" "g.151405236C>G" "" "pathogenic" "" "0000152714" "1" "90" "6" "151757661" "151757661" "subst" "2.4393E-5" "00006" "RMND1_000003" "g.151757661G>A" "" "{PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "Germline" "" "" "0" "" "" "g.151436526G>A" "" "pathogenic" "" "0000152715" "1" "90" "6" "151757661" "151757661" "subst" "2.4393E-5" "00006" "RMND1_000003" "g.151757661G>A" "" "{PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "Germline" "" "" "0" "" "" "g.151436526G>A" "" "pathogenic" "" "0000152716" "3" "90" "6" "151726371" "151726371" "subst" "2.03396E-5" "00006" "RMND1_000001" "g.151726371C>G" "" "{PMID:Ng 2016:27412952}, {DOI:Ng 2016:10.1136/jmedgenet-2016-103910}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "Germline" "" "" "0" "" "" "g.151405236C>G" "" "pathogenic" "" "0000152717" "1" "90" "6" "151757581" "151757581" "subst" "4.06455E-6" "00006" "RMND1_000004" "g.151757581C>A" "" "{PMID:Janer 2015:25604853}, {DOI:Janer 2015:10.1038/ejhg.2014.293}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "Germline" "" "" "0" "" "" "g.151436446C>A" "" "pathogenic" "" "0000152718" "3" "90" "6" "151751289" "151751289" "subst" "0.000188156" "00006" "RMND1_000002" "g.151751289T>C" "" "{PMID:Ng 2016:27412952}, {DOI:Ng 2016:10.1136/jmedgenet-2016-103910}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "Germline" "" "" "0" "" "" "g.151430154T>C" "" "pathogenic" "" "0000152719" "1" "90" "6" "151751289" "151751289" "subst" "0.000188156" "00006" "RMND1_000002" "g.151751289T>C" "" "{PMID:Ng 2016:27412952}, {DOI:Ng 2016:10.1136/jmedgenet-2016-103910}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "Germline" "" "" "0" "" "" "g.151430154T>C" "" "pathogenic" "" "0000152720" "1" "90" "6" "151751289" "151751289" "subst" "0.000188156" "00006" "RMND1_000002" "g.151751289T>C" "" "{PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "Germline" "" "" "0" "" "" "g.151430154T>C" "" "pathogenic" "" "0000152721" "1" "90" "6" "151751289" "151751289" "subst" "0.000188156" "00006" "RMND1_000002" "g.151751289T>C" "" "{PMID:Ng 2016:27412952}, {DOI:Ng 2016:10.1136/jmedgenet-2016-103910}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "Germline" "" "" "0" "" "" "g.151430154T>C" "" "pathogenic" "" "0000152722" "2" "90" "6" "151751289" "151751289" "subst" "0.000188156" "00006" "RMND1_000002" "g.151751289T>C" "" "{PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "Germline" "" "" "0" "" "" "g.151430154T>C" "" "pathogenic" "" "0000152723" "2" "90" "6" "151751289" "151751289" "subst" "0.000188156" "00006" "RMND1_000002" "g.151751289T>C" "" "{PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "Germline" "" "" "0" "" "" "g.151430154T>C" "" "pathogenic" "" "0000152724" "2" "90" "6" "151751289" "151751289" "subst" "0.000188156" "00006" "RMND1_000002" "g.151751289T>C" "" "{PMID:Janer 2015:25604853}, {DOI:Janer 2015:10.1038/ejhg.2014.293}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "Germline" "" "" "0" "" "" "g.151430154T>C" "" "pathogenic" "" "0000152725" "2" "90" "6" "151726854" "151726854" "subst" "0" "00006" "RMND1_000005" "g.151726854C>A" "" "{PMID:Ng 2016:27412952}, {DOI:Ng 2016:10.1136/jmedgenet-2016-103910}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "Germline" "" "" "0" "" "" "g.151405719C>A" "" "pathogenic" "" "0000152726" "2" "90" "6" "151766463" "151766463" "del" "0" "00006" "RMND1_000006" "g.151766463del" "" "{PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "Germline" "" "" "0" "" "" "g.151445328del" "" "pathogenic" "" "0000152727" "2" "90" "6" "151726869" "151726869" "subst" "0" "00006" "RMND1_000007" "g.151726869G>A" "" "{PMID:Ng 2016:27412952}, {DOI:Ng 2016:10.1136/jmedgenet-2016-103910}, {PMID:Ulrick 2016:27843092}, {DOI:Ulrick 2016:10.1016/j.pediatrneurol.2016.09.003}" "" "" "" "Germline" "" "" "0" "" "" "g.151405734G>A" "" "pathogenic" "" "0000297677" "0" "70" "6" "151726898" "151726911" "del" "0" "02325" "RMND1_000008" "g.151726898_151726911del" "" "" "" "RMND1(NM_017909.4):c.1262_1275delATGAGAAGAGGGCA (p.N421Tfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151405763_151405776del" "" "likely pathogenic" "" "0000297678" "0" "70" "6" "151751289" "151751289" "subst" "0.000188156" "02325" "RMND1_000002" "g.151751289T>C" "" "" "" "RMND1(NM_017909.4):c.713A>G (p.N238S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151430154T>C" "" "likely pathogenic" "" "0000342882" "0" "50" "6" "151726892" "151726892" "subst" "1.21947E-5" "02327" "RMND1_000009" "g.151726892C>T" "" "" "" "RMND1(NM_017909.3):c.1280G>A (p.R427H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151405757C>T" "" "VUS" "" "0000347139" "0" "70" "6" "151738437" "151738437" "subst" "0" "02327" "RMND1_000010" "g.151738437G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151417302G>C" "" "likely pathogenic" "" "0000349489" "0" "50" "6" "151738448" "151738448" "subst" "0" "02327" "RMND1_000011" "g.151738448G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151417313G>C" "" "VUS" "" "0000527439" "0" "70" "6" "151726934" "151726934" "subst" "0" "01804" "RMND1_000012" "g.151726934G>T" "" "" "" "RMND1(NM_017909.2):c.1238C>A (p.(Thr413Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151405799G>T" "" "likely pathogenic" "" "0000610087" "0" "90" "6" "151751289" "151751289" "subst" "0.000188156" "02327" "RMND1_000002" "g.151751289T>C" "" "" "" "RMND1(NM_017909.4):c.713A>G (p.N238S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151430154T>C" "" "pathogenic" "" "0000610088" "0" "10" "6" "151754273" "151754273" "subst" "0.441811" "02327" "RMND1_000015" "g.151754273T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151433138T>C" "" "benign" "" "0000651855" "1" "50" "6" "151738529" "151738529" "subst" "0.000820606" "03575" "RMND1_000016" "g.151738529C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs142588921}" "Germline" "" "rs142588921" "0" "" "" "g.151417394C>T" "" "VUS" "" "0000660287" "3" "90" "6" "151726371" "151726371" "subst" "2.03396E-5" "00006" "RMND1_000001" "g.151726371C>G" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.151405236C>G" "" "pathogenic (recessive)" "" "0000660288" "3" "90" "6" "151726371" "151726371" "subst" "2.03396E-5" "00006" "RMND1_000001" "g.151726371C>G" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.151405236C>G" "" "pathogenic (recessive)" "" "0000660289" "3" "90" "6" "151726371" "151726371" "subst" "2.03396E-5" "00006" "RMND1_000001" "g.151726371C>G" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.151405236C>G" "" "pathogenic (recessive)" "" "0000660290" "3" "90" "6" "151726371" "151726371" "subst" "2.03396E-5" "00006" "RMND1_000001" "g.151726371C>G" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.151405236C>G" "" "pathogenic (recessive)" "" "0000660291" "3" "90" "6" "151726371" "151726371" "subst" "2.03396E-5" "00006" "RMND1_000001" "g.151726371C>G" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.151405236C>G" "" "pathogenic (recessive)" "" "0000660292" "1" "90" "6" "151751289" "151751289" "subst" "0.000188156" "00006" "RMND1_000002" "g.151751289T>C" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.151430154T>C" "" "pathogenic (recessive)" "" "0000660334" "2" "90" "6" "151748615" "151748618" "del" "0" "00006" "RMND1_000017" "g.151748615_151748618del" "" "{PMID:Taylor 2014:25058219}" "" "829_830+2delGAGT" "" "Germline" "" "" "0" "" "" "g.151427480_151427483del" "" "pathogenic (recessive)" "" "0000689646" "0" "70" "6" "151748629" "151748629" "subst" "4.07269E-6" "02327" "RMND1_000018" "g.151748629T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720721" "0" "50" "6" "151726892" "151726892" "subst" "1.21947E-5" "01943" "RMND1_000009" "g.151726892C>T" "" "" "" "RMND1(NM_017909.3):c.1280G>A (p.R427H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720722" "0" "30" "6" "151726963" "151726963" "subst" "0.000763022" "01943" "RMND1_000019" "g.151726963A>G" "" "" "" "RMND1(NM_017909.3):c.1209T>C (p.N403=), RMND1(NM_017909.4):c.1209T>C (p.N403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720723" "0" "30" "6" "151726963" "151726963" "subst" "0.000763022" "02326" "RMND1_000019" "g.151726963A>G" "" "" "" "RMND1(NM_017909.3):c.1209T>C (p.N403=), RMND1(NM_017909.4):c.1209T>C (p.N403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802356" "0" "30" "6" "151738410" "151738410" "subst" "0.000349871" "02326" "RMND1_000020" "g.151738410G>A" "" "" "" "RMND1(NM_017909.4):c.1200+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802357" "0" "30" "6" "151754311" "151754311" "subst" "0.000598924" "02326" "RMND1_000021" "g.151754311G>A" "" "" "" "RMND1(NM_017909.4):c.668C>T (p.P223L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851098" "0" "10" "6" "151726371" "151726371" "subst" "0.00392554" "02326" "RMND1_000022" "g.151726371C>T" "" "" "" "RMND1(NM_017909.4):c.1349G>A (p.*450=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851099" "0" "50" "6" "151742458" "151742459" "ins" "0" "02325" "RMND1_000023" "g.151742458_151742459insCAT" "" "" "" "RMND1(NM_017909.4):c.1003-2_1003-1insTGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887081" "0" "30" "6" "151743658" "151743658" "subst" "1.21125E-5" "02326" "RMND1_000024" "g.151743658T>A" "" "" "" "RMND1(NM_017909.4):c.1002+18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887082" "0" "30" "6" "151744739" "151744739" "subst" "0.00305582" "02326" "RMND1_000025" "g.151744739T>A" "" "" "" "RMND1(NM_017909.4):c.858A>T (p.E286D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887083" "0" "30" "6" "151748664" "151748664" "subst" "0.00247589" "02326" "RMND1_000026" "g.151748664G>A" "" "" "" "RMND1(NM_017909.4):c.783C>T (p.I261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887084" "0" "70" "6" "151751272" "151751272" "subst" "0" "02327" "RMND1_000027" "g.151751272C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887085" "0" "30" "6" "151766807" "151766807" "subst" "0.00241622" "02326" "RMND1_000028" "g.151766807C>T" "" "" "" "RMND1(NM_017909.4):c.140G>A (p.R47H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912420" "0" "90" "6" "151726371" "151726371" "subst" "2.03396E-5" "02326" "RMND1_000001" "g.151726371C>G" "" "" "" "RMND1(NM_017909.4):c.1349G>C (p.*450Sext*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000918574" "0" "70" "6" "151748618" "151748618" "subst" "4.08127E-6" "01602" "RMND1_000029" "g.151748618C>G" "" "" "" "" "" "Unknown" "" "rs143508229" "" "" "" "" "" "likely pathogenic" "ACMG" "0000977024" "0" "30" "6" "151726923" "151726923" "subst" "0" "02326" "RMND1_000030" "g.151726923G>T" "" "" "" "RMND1(NM_017909.4):c.1249C>A (p.R417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977025" "0" "30" "6" "151738529" "151738529" "subst" "0.000820606" "02326" "RMND1_000016" "g.151738529C>T" "" "" "" "RMND1(NM_017909.4):c.1085G>A (p.R362H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977026" "0" "90" "6" "151751289" "151751289" "subst" "0.000188156" "02326" "RMND1_000002" "g.151751289T>C" "" "" "" "RMND1(NM_017909.4):c.713A>G (p.N238S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035522" "0" "50" "6" "151773141" "151773141" "subst" "0" "01804" "C6orf211_000002" "g.151773141A>C" "" "" "" "RMND1(NM_017909.4):c.-15+10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049046" "1" "90" "6" "151751289" "151751289" "subst" "0.000188156" "00006" "RMND1_000002" "g.151751289T>C" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.713A>G" "" "Germline" "" "" "0" "" "" "g.151430154T>C" "" "pathogenic (recessive)" "" "0001049074" "2" "90" "6" "151726854" "151726854" "subst" "0" "00006" "RMND1_000005" "g.151726854C>A" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.1317+1G>T" "" "Germline" "" "" "0" "" "" "g.151405719C>A" "" "pathogenic (recessive)" "" ## 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 RMND1 ## Count = 56 "{{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}}" "0000130117" "00024214" "00" "1349" "0" "1349" "0" "c.1349G>C" "r.(?)" "p.(*450Serext*31)" "" "0000152710" "00024214" "90" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asn238Ser)" "5" "0000152711" "00024214" "90" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asn238Ser)" "5" "0000152712" "00024214" "90" "1349" "0" "1349" "0" "c.1349G>C" "r.(?)" "p.(*450Serext*31)" "12" "0000152713" "00024214" "90" "1349" "0" "1349" "0" "c.1349G>C" "r.(?)" "p.(*450Serext*31)" "12" "0000152714" "00024214" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Thr178Met)" "3" "0000152715" "00024214" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Thr178Met)" "3" "0000152716" "00024214" "90" "1349" "0" "1349" "0" "c.1349G>C" "r.(?)" "p.(*450Serext*31)" "12" "0000152717" "00024214" "90" "613" "0" "613" "0" "c.613G>T" "r.(?)" "p.(Asp205Tyr)" "3" "0000152718" "00024214" "90" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asn238Ser)" "5" "0000152719" "00024214" "90" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asn238Ser)" "5" "0000152720" "00024214" "90" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asn238Ser)" "5" "0000152721" "00024214" "90" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asn238Ser)" "5" "0000152722" "00024214" "90" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asn238Ser)" "5" "0000152723" "00024214" "90" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asn238Ser)" "5" "0000152724" "00024214" "90" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asn238Ser)" "5" "0000152725" "00024214" "90" "1317" "1" "1317" "1" "c.1317+1G>T" "r.spl?" "p.?" "11i" "0000152726" "00024214" "90" "485" "0" "485" "0" "c.485del" "r.(?)" "p.(Pro162Glnfs*5)" "2" "0000152727" "00024214" "90" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Leu435Phe)" "11" "0000297677" "00024214" "70" "1262" "0" "1275" "0" "c.1262_1275del" "r.(?)" "p.(Asn421ThrfsTer18)" "" "0000297678" "00024214" "70" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asn238Ser)" "" "0000342882" "00024214" "50" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Arg427His)" "" "0000347139" "00024214" "70" "1177" "0" "1177" "0" "c.1177C>G" "r.(?)" "p.(Leu393Val)" "" "0000349489" "00024214" "50" "1166" "0" "1166" "0" "c.1166C>G" "r.(?)" "p.(Thr389Arg)" "" "0000527439" "00024214" "70" "1238" "0" "1238" "0" "c.1238C>A" "r.(?)" "p.(Thr413Lys)" "" "0000610087" "00024214" "90" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asn238Ser)" "" "0000610088" "00024214" "10" "689" "17" "689" "17" "c.689+17A>G" "r.(=)" "p.(=)" "" "0000651855" "00024214" "50" "1085" "0" "1085" "0" "c.1085G>A" "r.(?)" "p.(Arg362His)" "" "0000660287" "00024214" "90" "1349" "0" "1349" "0" "c.1349G>C" "r.(?)" "p.(*450Serext*31)" "" "0000660288" "00024214" "90" "1349" "0" "1349" "0" "c.1349G>C" "r.(?)" "p.(*450Serext*31)" "" "0000660289" "00024214" "90" "1349" "0" "1349" "0" "c.1349G>C" "r.(?)" "p.(*450Serext*31)" "" "0000660290" "00024214" "90" "1349" "0" "1349" "0" "c.1349G>C" "r.(?)" "p.(*450Serext*31)" "" "0000660291" "00024214" "90" "1349" "0" "1349" "0" "c.1349G>C" "r.(?)" "p.(*450Serext*31)" "" "0000660292" "00024214" "90" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asn238Ser)" "" "0000660334" "00024214" "90" "829" "0" "830" "2" "c.829_830+2del" "r.spl" "p.(Glu277Glyfs*2)" "" "0000689646" "00024214" "70" "818" "0" "818" "0" "c.818A>C" "r.(?)" "p.(Tyr273Ser)" "" "0000720721" "00024214" "50" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Arg427His)" "" "0000720722" "00024214" "30" "1209" "0" "1209" "0" "c.1209T>C" "r.(?)" "p.(Asn403=)" "" "0000720723" "00024214" "30" "1209" "0" "1209" "0" "c.1209T>C" "r.(?)" "p.(Asn403=)" "" "0000802356" "00024214" "30" "1200" "4" "1200" "4" "c.1200+4C>T" "r.spl?" "p.?" "" "0000802357" "00024214" "30" "668" "0" "668" "0" "c.668C>T" "r.(?)" "p.(Pro223Leu)" "" "0000851098" "00024214" "10" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(*450=)" "" "0000851099" "00024214" "50" "1003" "-2" "1003" "-1" "c.1003-2_1003-1insTGA" "r.spl?" "p.?" "" "0000887081" "00024214" "30" "1002" "18" "1002" "18" "c.1002+18A>T" "r.(=)" "p.(=)" "" "0000887082" "00024214" "30" "858" "0" "858" "0" "c.858A>T" "r.(?)" "p.(Glu286Asp)" "" "0000887083" "00024214" "30" "783" "0" "783" "0" "c.783C>T" "r.(?)" "p.(Ile261=)" "" "0000887084" "00024214" "70" "729" "1" "729" "1" "c.729+1G>C" "r.spl?" "p.?" "" "0000887085" "00024214" "30" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Arg47His)" "" "0000912420" "00024214" "90" "1349" "0" "1349" "0" "c.1349G>C" "r.(?)" "p.(*450Serext*31)" "" "0000918574" "00024214" "70" "829" "0" "829" "0" "c.829G>C" "r.(?)" "p.(Glu277Gln)" "1" "0000977024" "00024214" "30" "1249" "0" "1249" "0" "c.1249C>A" "r.(?)" "p.(=)" "" "0000977025" "00024214" "30" "1085" "0" "1085" "0" "c.1085G>A" "r.(?)" "p.(Arg362His)" "" "0000977026" "00024214" "90" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asn238Ser)" "" "0001035522" "00024214" "50" "-15" "10" "-15" "10" "c.-15+10T>G" "r.(=)" "p.(=)" "" "0001049046" "00024214" "90" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asn238Ser)" "" "0001049074" "00024214" "90" "1317" "1" "1317" "1" "c.1317+1G>T" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000081031" "0000130117" "0000094175" "0000152710" "0000094176" "0000152711" "0000094177" "0000152712" "0000094178" "0000152713" "0000094179" "0000152714" "0000094179" "0000152722" "0000094180" "0000152715" "0000094180" "0000152723" "0000094181" "0000152716" "0000094182" "0000152717" "0000094182" "0000152724" "0000094183" "0000152718" "0000094184" "0000152719" "0000094184" "0000152725" "0000094185" "0000152720" "0000094185" "0000152726" "0000094186" "0000152721" "0000094186" "0000152727" "0000295166" "0000651855" "0000297678" "0000660287" "0000297679" "0000660288" "0000297680" "0000660289" "0000297681" "0000660290" "0000297682" "0000660291" "0000297683" "0000660292" "0000297683" "0000660334" "0000432956" "0000918574" "0000468952" "0001049046" "0000468952" "0001049074"