### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POLR1C) # 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}}" "POLR1C" "polymerase (RNA) I polypeptide C, 30kDa" "6" "p21.1" "unknown" "NG_028283.4" "UD_132085371344" "" "https://www.LOVD.nl/POLR1C" "" "1" "20194" "9533" "610060" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-13 10:21:38" "00000" "2025-05-05 21:14:00" ## 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}}" "00016498" "POLR1C" "polymerase (RNA) I polypeptide C, 30kDa" "001" "NM_203290.2" "" "NP_976035.1" "" "" "" "-71" "1254" "1041" "43484777" "43489251" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "00912" "TCS3" "Treacher Collins syndrome, type 3 (TCS-3)" "AR" "248390" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04621" "HLD11" "leukodystrophy, hypomyelinating, type 11 (HLD-11)" "AR" "616494" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05523" "HLD" "leukodystrophy, hypomyelinating (HLD)" "" "" "" "" "" "00006" "2018-11-23 23:15:35" "" "" "05668" "TCS" "Treacher Collins syndrome" "" "" "" "" "" "00008" "2019-10-30 16:36:46" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "POLR1C" "00139" "POLR1C" "00912" "POLR1C" "04621" "POLR1C" "05668" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00103918" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH4975_1/_4" "00283388" "" "" "" "1" "" "00004" "{PMID:Thiffault 2015:26151409}" "" "" "" "" "" "0" "" "" "" "" "00283389" "" "" "" "1" "" "00004" "{PMID:Richards 2015:25741868}" "" "" "" "" "" "0" "" "" "" "" "00283390" "" "" "" "1" "" "00004" "{PMID:Dauwerse 2011:21131976}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Man42" "00283391" "" "" "" "1" "" "00004" "{PMID:Thiffault 2015:26151409}" "" "" "" "" "" "0" "" "" "" "" "00283392" "" "" "" "1" "" "00004" "{PMID:Thiffault 2015:26151409}" "" "" "" "" "" "0" "" "" "" "" "00283393" "" "" "" "1" "" "00004" "{PMID:Thiffault 2015:26151409}" "" "" "" "" "" "0" "" "" "" "" "00283394" "" "" "" "1" "" "00004" "{PMID:Thiffault 2015:26151409}" "" "" "" "" "" "0" "" "" "" "" "00283395" "" "" "" "1" "" "00004" "{PMID:Richards 2015:25741868}" "" "" "" "" "" "0" "" "" "" "" "00283398" "" "" "" "2" "" "00004" "{PMID:Dauwerse 2011:21131976}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "M" "" "" "" "0" "" "" "" "EsM5815PatIII3" "00283399" "" "" "" "1" "" "00004" "{PMID:Dauwerse 2011:21131976}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "EsM17985" "00294117" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374812" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4503" "00438830" "" "" "" "1" "" "00006" "{PMID:Mirchi 2023:37197783}" "" "M" "" "Canada" "" "0" "" "" "" "Pat27" "00438831" "" "" "" "1" "" "00006" "{PMID:Mirchi 2023:37197783}" "" "F" "" "Canada" "" "0" "" "" "" "Pat28" "00438832" "" "" "" "1" "" "00006" "{PMID:Mirchi 2023:37197783}" "" "F" "" "Canada" "" "0" "" "" "" "Pat29" "00438833" "" "" "" "1" "" "00006" "{PMID:Mirchi 2023:37197783}" "" "M" "" "Canada" "" "0" "" "" "" "Pat30" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00103918" "00198" "00283388" "00198" "00283390" "05668" "00283391" "00198" "00283392" "00198" "00283393" "00198" "00283394" "00198" "00283398" "05668" "00283399" "05668" "00294117" "00198" "00374812" "00198" "00438830" "05523" "00438831" "05523" "00438832" "05523" "00438833" "05523" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00912, 04621, 05523, 05668 ## Count = 14 "{{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}}" "0000081845" "00198" "00103918" "00006" "Familial, autosomal recessive" "" "developmental delay, intellectual disability, polymicrogyria, cardiomyopathy, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000216686" "00198" "00283388" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 11" "Leukodystrophy, hypomyelinating, 11" "" "0000216687" "00198" "00283391" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 11" "Leukodystrophy, hypomyelinating, 11" "" "0000216688" "00198" "00283392" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 11" "Leukodystrophy, hypomyelinating, 11" "" "0000216689" "00198" "00283393" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 11" "Leukodystrophy, hypomyelinating, 11" "" "0000216690" "00198" "00283394" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 11" "Leukodystrophy, hypomyelinating, 11" "" "0000219659" "05668" "00283390" "00008" "Familial, autosomal recessive" "" "downward slanting palpebral fissures; lower eyelid coloboma; hypoplasia zygomatic complex; hypoplasia mandible; microtia; conductive deafness; no cleft palate; no tracheostoma; no delayed motor development; no speech delay" "" "" "" "" "" "" "" "" "TCS3" "Treacher collins syndrome" "" "0000219662" "05668" "00283398" "00008" "Familial, autosomal recessive" "" "no downward slanting palpebral fissures; no lower eyelid coloboma; hypoplasia zygomatic complex; hypoplasia mandible; microtia; conductive deafness; no tracheostoma" "" "" "" "" "" "" "" "" "TCS3" "Treacher collins syndrome" "" "0000219663" "05668" "00283399" "00008" "Familial, autosomal recessive" "" "downward slanting palpebral fissures; lower eyelid coloboma; hypoplasia zygomatic complex; hypoplasia mandible; microtia; no choanal stenosis/atresia; conductive deafness; cleft palate; tracheostoma; no delayed motor development; no speech delay" "" "" "" "" "" "" "" "" "TCS3" "Treacher collins syndrome" "" "0000270022" "00198" "00374812" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000328728" "05523" "00438830" "00006" "Familial, autosomal recessive" "" "hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; bitemporal narrowing; telecanthus; low-set ears; flat midface; smooth philtrum; full lower lip; pointed chin; long eyelashes, long philtrum, inferior epicanthus" "" "" "" "" "" "" "" "" "HLD11" "hypomyelinating leukodystrophy" "" "0000328729" "05523" "00438831" "00006" "Familial, autosomal recessive" "" "hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; bitemporal narrowing; hypertelorism; short philtrum; downslanted palpebral fissure, large mouth, short neck, abnormal external ears" "" "" "" "" "" "" "" "" "HLD11" "hypomyelinating leukodystrophy" "" "0000328730" "05523" "00438832" "00006" "Familial, autosomal recessive" "" "hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; bulbous tip of the nose; short philtrum; thin upper lip; pointed chin; peri-orbital fullness, low-hanging columella" "" "" "" "" "" "" "" "" "HLD11" "hypomyelinating leukodystrophy" "" "0000328731" "05523" "00438833" "00006" "Familial, autosomal recessive" "" "hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; flat midface; pinched nose; smooth philtrum; pointed chin; broad nasal bridge, retrognathia" "" "" "" "" "" "" "" "" "HLD11" "hypomyelinating leukodystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104376" "00103918" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000284538" "00283388" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284539" "00283389" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284540" "00283390" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 10:48:32" "SEQ" "DNA" "" "" "0000284541" "00283391" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284542" "00283392" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284543" "00283393" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284544" "00283394" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284545" "00283395" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284548" "00283398" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 10:36:09" "SEQ" "DNA" "" "" "0000284549" "00283399" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 10:58:31" "SEQ" "DNA" "" "" "0000295285" "00294117" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000376006" "00374812" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000440312" "00438830" "1" "00006" "00006" "2023-10-24 17:26:11" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440313" "00438831" "1" "00006" "00006" "2023-10-24 17:26:11" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440314" "00438832" "1" "00006" "00006" "2023-10-24 17:26:11" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440315" "00438833" "1" "00006" "00006" "2023-10-24 17:26:11" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000104376" "POLR1C" "0000104376" "SCN1B" "0000284538" "POLR1C" "0000284539" "POLR1C" "0000284540" "POLR1C" "0000284541" "POLR1C" "0000284542" "POLR1C" "0000284543" "POLR1C" "0000284544" "POLR1C" "0000284545" "POLR1C" "0000284548" "POLR1C" "0000284549" "POLR1C" "0000376006" "POLR1C" ## 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 = 61 "{{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}}" "0000169056" "1" "90" "6" "43485062" "43485062" "subst" "0" "00006" "POLR1C_000001" "g.43485062C>T" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "Germline" "" "" "0" "" "" "g.43517324C>T" "" "pathogenic" "" "0000169068" "2" "90" "6" "43488124" "43488124" "del" "0" "00006" "POLR1C_000002" "g.43488124del" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "Germline" "" "" "0" "" "" "g.43520386del" "" "pathogenic" "" "0000251121" "0" "10" "6" "43488144" "43488144" "subst" "0.00864678" "02326" "POLR1C_000005" "g.43488144A>G" "" "" "" "POLR1C(NM_203290.2):c.634A>G (p.(Met212Val)), POLR1C(NM_203290.4):c.634A>G (p.M212V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43520406A>G" "" "benign" "" "0000331040" "0" "30" "6" "43480181" "43480181" "subst" "0" "01804" "YIPF3_000001" "g.43480181C>G" "" "" "" "YIPF3(NM_015388.3):c.901G>C (p.(Glu301Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43512443C>G" "" "likely benign" "" "0000331041" "0" "50" "6" "43480277" "43480277" "subst" "0.00017213" "01804" "YIPF3_000002" "g.43480277C>T" "" "" "" "YIPF3(NM_015388.3):c.805G>A (p.(Val269Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43512539C>T" "" "VUS" "" "0000331042" "0" "50" "6" "43480937" "43480937" "subst" "2.03174E-5" "01804" "YIPF3_000003" "g.43480937C>T" "" "" "" "YIPF3(NM_015388.3):c.536G>A (p.(Arg179Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43513199C>T" "" "VUS" "" "0000331043" "0" "50" "6" "43483721" "43483723" "del" "0" "01804" "YIPF3_000004" "g.43483721_43483723del" "" "" "" "YIPF3(NM_015388.3):c.194_196del (p.(Asp65del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43515983_43515985del" "" "VUS" "" "0000331044" "0" "50" "6" "43484852" "43484852" "subst" "0" "01804" "POLR1C_000003" "g.43484852C>G" "" "" "" "POLR1C(NM_203290.2):c.5C>G (p.(Ala2Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43517114C>G" "" "VUS" "" "0000331045" "0" "50" "6" "43487514" "43487514" "subst" "0" "01804" "POLR1C_000004" "g.43487514C>T" "" "" "" "POLR1C(NM_203290.2):c.320C>T (p.(Ala107Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43519776C>T" "" "VUS" "" "0000336830" "0" "10" "6" "43488354" "43488354" "subst" "0.00926234" "02327" "POLR1C_000010" "g.43488354C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43520616C>T" "" "benign" "" "0000345584" "0" "50" "6" "43484869" "43484869" "subst" "4.06055E-6" "02327" "POLR1C_000008" "g.43484869G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43517131G>A" "" "VUS" "" "0000346001" "0" "10" "6" "43497064" "43497064" "subst" "0.0970528" "02327" "XPO5_000001" "g.43497064G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43529326G>A" "" "benign" "" "0000528925" "0" "50" "6" "43483337" "43483337" "subst" "0" "01804" "POLR1C_000011" "g.43483337T>C" "" "" "" "YIPF3(NM_015388.3):c.391A>G (p.(Ser131Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43515599T>C" "" "VUS" "" "0000528926" "0" "30" "6" "43484855" "43484855" "subst" "0.000572542" "01943" "POLR1C_000012" "g.43484855C>T" "" "" "" "POLR1C(NM_203290.3):c.8C>T (p.A3V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43517117C>T" "" "likely benign" "" "0000528927" "0" "50" "6" "43484912" "43484912" "subst" "0.000162425" "01943" "POLR1C_000013" "g.43484912G>A" "" "" "" "POLR1C(NM_001318876.1):c.65G>A (p.(Arg22His)), POLR1C(NM_203290.3):c.65G>A (p.R22H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43517174G>A" "" "VUS" "" "0000528928" "0" "30" "6" "43485090" "43485090" "subst" "0.000312665" "01943" "POLR1C_000014" "g.43485090C>T" "" "" "" "POLR1C(NM_001318876.1):c.116C>T (p.(Ala39Val)), POLR1C(NM_203290.3):c.116C>T (p.A39V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43517352C>T" "" "likely benign" "" "0000528929" "0" "50" "6" "43487816" "43487816" "subst" "0.000316782" "01943" "POLR1C_000015" "g.43487816G>A" "" "" "" "POLR1C(NM_203290.3):c.395G>A (p.G132D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43520078G>A" "" "VUS" "" "0000528930" "0" "30" "6" "43488006" "43488006" "subst" "0.000199829" "01804" "POLR1C_000016" "g.43488006C>T" "" "" "" "POLR1C(NM_203290.2):c.503-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43520268C>T" "" "likely benign" "" "0000528931" "0" "30" "6" "43488144" "43488144" "subst" "0.00864678" "01804" "POLR1C_000005" "g.43488144A>G" "" "" "" "POLR1C(NM_203290.2):c.634A>G (p.(Met212Val)), POLR1C(NM_203290.4):c.634A>G (p.M212V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43520406A>G" "" "likely benign" "" "0000528933" "0" "50" "6" "43488515" "43488515" "subst" "4.06336E-6" "01943" "POLR1C_000018" "g.43488515A>G" "" "" "" "POLR1C(NM_203290.3):c.805+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43520777A>G" "" "VUS" "" "0000610367" "0" "50" "6" "43487842" "43487842" "subst" "0.000633467" "01943" "POLR1C_000019" "g.43487842C>T" "" "" "" "POLR1C(NM_203290.2):c.421C>T (p.(Arg141Cys)), POLR1C(NM_203290.3):c.421C>T (p.R141C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43520104C>T" "" "VUS" "" "0000610368" "0" "30" "6" "43488998" "43488998" "subst" "5.28198E-5" "01943" "POLR1C_000020" "g.43488998G>A" "" "" "" "POLR1C(NM_203290.3):c.1001G>A (p.R334Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43521260G>A" "" "likely benign" "" "0000640280" "1" "99" "6" "43485051" "43485051" "subst" "0" "00004" "POLR1C_000021" "g.43485051C>T" "" "{DB:DVD}, {PMID:Thiffault 2015:26151409}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.43517313C>T" "" "pathogenic" "" "0000640281" "1" "55" "6" "43485053" "43485053" "subst" "2.43633E-5" "00004" "POLR1C_000022" "g.43485053A>G" "" "{DB:DVD}, {PMID:Richards 2015:25741868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.43517315A>G" "" "VUS" "" "0000640282" "1" "90" "6" "43485061" "43485061" "del" "0" "00004" "POLR1C_000023" "g.43485061del" "" "{PMID:Dauwerse 2011:21131976}" "" "87delT" "" "Germline" "" "" "0" "" "" "g.43517323del" "" "pathogenic (recessive)" "" "0000640283" "1" "99" "6" "43485069" "43485069" "subst" "0" "00004" "POLR1C_000024" "g.43485069A>T" "" "{DB:DVD}, {PMID:Thiffault 2015:26151409}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.43517331A>T" "" "pathogenic" "" "0000640284" "1" "99" "6" "43487150" "43487150" "subst" "2.03032E-5" "00004" "POLR1C_000025" "g.43487150A>G" "" "{DB:DVD}, {PMID:Thiffault 2015:26151409}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.43519412A>G" "" "pathogenic" "" "0000640285" "1" "99" "6" "43487520" "43487520" "subst" "8.12143E-6" "00004" "POLR1C_000026" "g.43487520G>A" "" "{DB:DVD}, {PMID:Thiffault 2015:26151409}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.43519782G>A" "" "pathogenic" "" "0000640286" "1" "99" "6" "43487857" "43487857" "subst" "0" "00004" "POLR1C_000027" "g.43487857T>C" "" "{DB:DVD}, {PMID:Thiffault 2015:26151409}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.43520119T>C" "" "pathogenic" "" "0000640287" "1" "55" "6" "43488101" "43488101" "subst" "4.06855E-6" "00004" "POLR1C_000028" "g.43488101C>T" "" "{DB:DVD}, {PMID:Richards 2015:25741868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.43520363C>T" "" "VUS" "" "0000640290" "1" "90" "6" "43488789" "43488792" "del" "0" "00004" "POLR1C_000030" "g.43488789_43488792del" "" "{PMID:Dauwerse 2011:21131976}" "" "c.922+3_c.922+6del" "" "Germline" "yes" "" "0" "" "" "g.43521051_43521054del" "" "pathogenic (recessive)" "" "0000640291" "1" "90" "6" "43488976" "43488976" "subst" "4.06233E-6" "00004" "POLR1C_000031" "g.43488976A>T" "" "{PMID:Dauwerse 2011:21131976}" "" "" "" "Germline" "" "" "0" "" "" "g.43521238A>T" "" "pathogenic (recessive)" "" "0000651974" "1" "30" "6" "43488144" "43488144" "subst" "0.00864678" "03575" "POLR1C_000005" "g.43488144A>G" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs79222964}" "Germline" "" "rs79222964" "0" "" "" "g.43520406A>G" "" "likely benign" "" "0000655597" "0" "50" "6" "43484878" "43484878" "subst" "0" "01943" "POLR1C_000032" "g.43484878C>T" "" "" "" "POLR1C(NM_001363658.1):c.31C>T (p.R11W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43517140C>T" "" "VUS" "" "0000677784" "0" "50" "6" "43487122" "43487122" "subst" "0.000832413" "01943" "POLR1C_000033" "g.43487122A>G" "" "" "" "POLR1C(NM_001363658.1):c.193A>G (p.M65V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720955" "0" "90" "6" "43488700" "43488700" "subst" "0.000211159" "02329" "POLR1C_000006" "g.43488700G>A" "" "" "" "POLR1C(NM_001318876.1):c.836G>A (p.(Arg279Gln)), POLR1C(NM_203290.4):c.836G>A (p.R279Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000787357" "3" "50" "6" "43485092" "43485092" "subst" "0" "00006" "POLR1C_000034" "g.43485092T>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.43517354T>G" "" "VUS" "" "0000802608" "0" "50" "6" "43484921" "43484921" "subst" "0.000207097" "01943" "POLR1C_000035" "g.43484921G>A" "" "" "" "POLR1C(NM_001363658.1):c.69+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802609" "0" "30" "6" "43487911" "43487911" "subst" "0.000207093" "01943" "POLR1C_000036" "g.43487911G>A" "" "" "" "POLR1C(NM_001363658.1):c.490G>A (p.V164M), POLR1C(NM_203290.2):c.490G>A (p.(Val164Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802610" "0" "50" "6" "43488729" "43488729" "subst" "1.21819E-5" "01943" "POLR1C_000037" "g.43488729C>T" "" "" "" "POLR1C(NM_001363658.1):c.865C>T (p.R289W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851239" "0" "30" "6" "43487453" "43487453" "subst" "2.84273E-5" "01804" "POLR1C_000038" "g.43487453A>G" "" "" "" "POLR1C(NM_203290.2):c.259A>G (p.(Met87Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860360" "0" "30" "6" "43487911" "43487911" "subst" "0.000207093" "01804" "POLR1C_000036" "g.43487911G>A" "" "" "" "POLR1C(NM_001363658.1):c.490G>A (p.V164M), POLR1C(NM_203290.2):c.490G>A (p.(Val164Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887263" "0" "50" "6" "43484915" "43484915" "subst" "8.1213E-6" "01804" "POLR1C_000039" "g.43484915A>G" "" "" "" "POLR1C(NM_203290.2):c.68A>G (p.(Asn23Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887264" "0" "70" "6" "43488700" "43488700" "subst" "0.000211159" "01804" "POLR1C_000006" "g.43488700G>A" "" "" "" "POLR1C(NM_001318876.1):c.836G>A (p.(Arg279Gln)), POLR1C(NM_203290.4):c.836G>A (p.R279Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000908522" "2" "90" "6" "43488700" "43488700" "subst" "0.000211159" "00006" "POLR1C_000006" "g.43488700G>A" "" "{PMID:Dauwerse 2011:21131976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43520962G>A" "" "pathogenic (recessive)" "" "0000908523" "2" "90" "6" "43488699" "43488699" "subst" "4.06091E-5" "00006" "POLR1C_000029" "g.43488699C>T" "" "{PMID:Dauwerse 2011:21131976}" "" "" "" "Germline" "" "" "0" "" "" "g.43520961C>T" "" "pathogenic (recessive)" "" "0000908524" "2" "90" "6" "43488700" "43488700" "subst" "0.000211159" "00006" "POLR1C_000006" "g.43488700G>A" "" "{PMID:Dauwerse 2011:21131976}" "" "" "" "Germline" "" "" "0" "" "" "g.43520962G>A" "" "pathogenic (recessive)" "" "0000924516" "0" "30" "6" "43484912" "43484912" "subst" "0.000162425" "01804" "POLR1C_000013" "g.43484912G>A" "" "" "" "POLR1C(NM_001318876.1):c.65G>A (p.(Arg22His)), POLR1C(NM_203290.3):c.65G>A (p.R22H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924517" "0" "30" "6" "43485090" "43485090" "subst" "0.000312665" "01804" "POLR1C_000014" "g.43485090C>T" "" "" "" "POLR1C(NM_001318876.1):c.116C>T (p.(Ala39Val)), POLR1C(NM_203290.3):c.116C>T (p.A39V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924518" "0" "30" "6" "43498523" "43498523" "subst" "0.000411352" "01804" "POLR1C_000040" "g.43498523T>C" "" "" "" "XPO5(NM_020750.2):c.2580A>G (p.(Gln860=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936642" "1" "70" "6" "43485062" "43485062" "subst" "0" "00006" "POLR1C_000001" "g.43485062C>T" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.43517324C>T" "" "likely pathogenic (recessive)" "" "0000936643" "1" "70" "6" "43488406" "43488406" "subst" "0" "00006" "POLR1C_000042" "g.43488406C>G" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.43520668C>G" "" "likely pathogenic (recessive)" "" "0000936644" "1" "70" "6" "43485051" "43485051" "subst" "0" "00006" "POLR1C_000021" "g.43485051C>T" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.43517313C>T" "" "likely pathogenic (recessive)" "" "0000936645" "3" "70" "6" "43487150" "43487150" "subst" "2.03032E-5" "00006" "POLR1C_000025" "g.43487150A>G" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.43519412A>G" "" "likely pathogenic (recessive)" "" "0000936666" "2" "70" "6" "43488126" "43488126" "del" "0" "00006" "POLR1C_000041" "g.43488126del" "" "{PMID:Mirchi 2023:37197783}" "" "615del" "" "Germline" "" "" "0" "" "" "g.43520388del" "" "likely pathogenic (recessive)" "" "0000936667" "2" "70" "6" "43488747" "43488749" "del" "0" "00006" "POLR1C_000043" "g.43488747_43488749del" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.43521009_43521011del" "" "likely pathogenic (recessive)" "" "0000936668" "2" "70" "6" "43487520" "43487520" "subst" "8.12143E-6" "00006" "POLR1C_000026" "g.43487520G>A" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.43519782G>A" "" "likely pathogenic (recessive)" "" "0000977262" "0" "50" "6" "43485105" "43485105" "subst" "0" "01804" "POLR1C_000044" "g.43485105G>A" "" "" "" "POLR1C(NM_203290.4):c.131G>A (p.(Arg44His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977263" "0" "50" "6" "43488793" "43488793" "subst" "8.12143E-6" "01804" "POLR1C_000045" "g.43488793A>G" "" "" "" "POLR1C(NM_203290.2):c.922+7A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995782" "0" "50" "6" "43487842" "43487842" "subst" "0.000633467" "01804" "POLR1C_000019" "g.43487842C>T" "" "" "" "POLR1C(NM_203290.2):c.421C>T (p.(Arg141Cys)), POLR1C(NM_203290.3):c.421C>T (p.R141C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035801" "0" "30" "6" "43488915" "43488915" "subst" "1.62437E-5" "01804" "POLR1C_000046" "g.43488915C>T" "" "" "" "POLR1C(NM_203290.4):c.923-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 POLR1C ## Count = 61 "{{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}}" "0000169056" "00016498" "90" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Pro30Ser)" "2" "0000169068" "00016498" "90" "614" "0" "614" "0" "c.614del" "r.(?)" "p.(Gly205Alafs*49)" "6" "0000251121" "00016498" "10" "634" "0" "634" "0" "c.634A>G" "r.(?)" "p.(Met212Val)" "" "0000331040" "00016498" "30" "-4667" "0" "-4667" "0" "c.-4667C>G" "r.(?)" "p.(=)" "" "0000331041" "00016498" "50" "-4571" "0" "-4571" "0" "c.-4571C>T" "r.(?)" "p.(=)" "" "0000331042" "00016498" "50" "-3911" "0" "-3911" "0" "c.-3911C>T" "r.(?)" "p.(=)" "" "0000331043" "00016498" "50" "-1127" "0" "-1125" "0" "c.-1127_-1125del" "r.(?)" "p.(=)" "" "0000331044" "00016498" "50" "5" "0" "5" "0" "c.5C>G" "r.(?)" "p.(Ala2Gly)" "" "0000331045" "00016498" "50" "320" "0" "320" "0" "c.320C>T" "r.(?)" "p.(Ala107Val)" "" "0000336830" "00016498" "10" "656" "-9" "656" "-9" "c.656-9C>T" "r.(=)" "p.(=)" "" "0000345584" "00016498" "50" "22" "0" "22" "0" "c.22G>A" "r.(?)" "p.(Glu8Lys)" "" "0000346001" "00016498" "10" "9067" "0" "9067" "0" "c.*8026G>A" "r.(=)" "p.(=)" "" "0000528925" "00016498" "50" "-1511" "0" "-1511" "0" "c.-1511T>C" "r.(?)" "p.(=)" "" "0000528926" "00016498" "30" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Ala3Val)" "" "0000528927" "00016498" "50" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Arg22His)" "" "0000528928" "00016498" "30" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "0000528929" "00016498" "50" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Gly132Asp)" "" "0000528930" "00016498" "30" "503" "-7" "503" "-7" "c.503-7C>T" "r.(=)" "p.(=)" "" "0000528931" "00016498" "30" "634" "0" "634" "0" "c.634A>G" "r.(?)" "p.(Met212Val)" "" "0000528933" "00016498" "50" "805" "3" "805" "3" "c.805+3A>G" "r.spl?" "p.?" "" "0000610367" "00016498" "50" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Arg141Cys)" "" "0000610368" "00016498" "30" "1001" "0" "1001" "0" "c.1001G>A" "r.(?)" "p.(Arg334Gln)" "" "0000640280" "00016498" "99" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Thr26Ile)" "2" "0000640281" "00016498" "55" "79" "0" "79" "0" "c.79A>G" "r.(?)" "p.(Thr27Ala)" "2" "0000640282" "00016498" "90" "87" "0" "87" "0" "c.87del" "r.(?)" "p.(Gly31Valfs*23)" "2" "0000640283" "00016498" "99" "95" "0" "95" "0" "c.95A>T" "r.(?)" "p.(Asn32Ile)" "2" "0000640284" "00016498" "99" "221" "0" "221" "0" "c.221A>G" "r.(?)" "p.(Asn74Ser)" "3" "0000640285" "00016498" "99" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Arg109His)" "4" "0000640286" "00016498" "99" "436" "0" "436" "0" "c.436T>C" "r.(?)" "p.(Cys146Arg)" "5" "0000640287" "00016498" "55" "591" "0" "591" "0" "c.591C>T" "r.(=)" "p.(=)" "6" "0000640290" "00016498" "90" "922" "3" "922" "6" "c.922+3_922+6del" "r.spl?" "p.?" "8i" "0000640291" "00016498" "90" "979" "0" "979" "0" "c.979A>T" "r.(?)" "p.(Lys327*)" "9" "0000651974" "00016498" "30" "634" "0" "634" "0" "c.634A>G" "r.(?)" "p.(Met212Val)" "" "0000655597" "00016498" "50" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Trp)" "" "0000677784" "00016498" "50" "193" "0" "193" "0" "c.193A>G" "r.(?)" "p.(Met65Val)" "" "0000720955" "00016498" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "" "0000787357" "00016498" "50" "118" "0" "118" "0" "c.118T>G" "r.(?)" "p.(Trp40Gly)" "2" "0000802608" "00016498" "50" "69" "5" "69" "5" "c.69+5G>A" "r.spl?" "p.?" "" "0000802609" "00016498" "30" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Val164Met)" "" "0000802610" "00016498" "50" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Arg289Trp)" "" "0000851239" "00016498" "30" "259" "0" "259" "0" "c.259A>G" "r.(?)" "p.(Met87Val)" "" "0000860360" "00016498" "30" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Val164Met)" "" "0000887263" "00016498" "50" "68" "0" "68" "0" "c.68A>G" "r.(?)" "p.(Asn23Ser)" "" "0000887264" "00016498" "70" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "" "0000908522" "00016498" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "" "0000908523" "00016498" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Trp)" "" "0000908524" "00016498" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "" "0000924516" "00016498" "30" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Arg22His)" "" "0000924517" "00016498" "30" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "0000924518" "00016498" "30" "10526" "0" "10526" "0" "c.*9485T>C" "r.(=)" "p.(=)" "" "0000936642" "00016498" "70" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Pro30Ser)" "" "0000936643" "00016498" "70" "699" "0" "699" "0" "c.699C>G" "r.(?)" "p.(Tyr233Ter)" "" "0000936644" "00016498" "70" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Thr26Ile)" "" "0000936645" "00016498" "70" "221" "0" "221" "0" "c.221A>G" "r.(?)" "p.(Asn74Ser)" "" "0000936666" "00016498" "70" "616" "0" "616" "0" "c.616del" "r.(?)" "p.(Gln206LysfsTer48)" "" "0000936667" "00016498" "70" "883" "0" "885" "0" "c.883_885del" "r.(?)" "p.(Lys295del)" "" "0000936668" "00016498" "70" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Arg109His)" "" "0000977262" "00016498" "50" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44His)" "" "0000977263" "00016498" "50" "922" "7" "922" "7" "c.922+7A>G" "r.(=)" "p.(=)" "" "0000995782" "00016498" "50" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Arg141Cys)" "" "0001035801" "00016498" "30" "923" "-5" "923" "-5" "c.923-5C>T" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000104376" "0000169056" "0000104376" "0000169068" "0000284538" "0000640280" "0000284539" "0000640281" "0000284540" "0000640282" "0000284540" "0000908523" "0000284541" "0000640283" "0000284542" "0000640284" "0000284543" "0000640285" "0000284544" "0000640286" "0000284545" "0000640287" "0000284548" "0000640290" "0000284548" "0000908522" "0000284549" "0000640291" "0000284549" "0000908524" "0000295285" "0000651974" "0000376006" "0000787357" "0000440312" "0000936642" "0000440312" "0000936666" "0000440313" "0000936643" "0000440313" "0000936667" "0000440314" "0000936644" "0000440314" "0000936668" "0000440315" "0000936645"