### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPL10) # 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}}" "RPL10" "ribosomal protein L10" "X" "q28" "unknown" "NG_012890.2" "UD_132085437788" "" "https://www.LOVD.nl/RPL10" "" "1" "10298" "6134" "312173" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/RPL10_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2017-09-04 16:08:07" "00006" "2025-09-05 09:48:06" ## 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}}" "00000484" "RPL10" "transcript variant 1" "001" "NM_006013.3" "" "NP_006004.2" "" "" "" "-188" "2130" "645" "153626571" "153630680" "00000" "2012-09-13 12:22:08" "" "" ## 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}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02191" "AUTSX5" "autism, susceptibility to, X-linked, type 5 (AUTSX-5)" "" "300847" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05325" "MRXS35" "mental retardation, X-linked, syndromic, type 35 (MRXS-35)" "XLR" "300998" "" "" "" "00006" "2017-09-04 17:10:44" "00006" "2021-12-10 21:51:32" "05484" "DBA" "anemia, Diamond-Blackfan (DBA)" "" "" "" "" "" "00006" "2018-10-23 16:08:11" "" "" "06977" "MRX" "mental retardation, X-linked" "" "" "" "" "" "00006" "2022-11-25 16:09:05" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RPL10" "02191" "RPL10" "05325" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00050693" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00117925" "" "" "" "119" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377448-Pat?" "00117926" "" "" "" "1" "" "01996" "" "" "" "" "" "" "0" "" "" "" "" "00183135" "" "" "" "1" "" "00006" "{PMID:Hu 2016:25644381}" "family, 1 affected, 4 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamMRX75/D13" "00210899" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA173" "00464560" "" "" "" "1" "" "04635" "" "" "M" "no" "China" "" "" "" "" "Chinese" "" "00466427" "" "" "" "1" "" "04459" "" "" "M" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00050693" "00198" "00117925" "00187" "00117926" "00198" "00183135" "00187" "00210899" "05484" "00464560" "05325" "00466427" "06977" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 01157, 02191, 05325, 05484, 06977 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000037305" "00198" "00050693" "00006" "Isolated (sporadic)" "" "drooling, unsteady gait, abnormal facial shape, lactose intolerance" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000093306" "00187" "00117925" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093307" "00198" "00117926" "01996" "Familial, X-linked recessive" "" "X-linked cerebellar hypoplasia and short trunk dwarfism" "" "" "" "" "" "" "" "" "" "" "" "" "0000143889" "00187" "00183135" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000159461" "05484" "00210899" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000350693" "05325" "00464560" "04635" "Isolated (sporadic)" "" "fetal growth delay, microcephaly, microretrognathia, protruding ears, nasal bridge collapse and high-arched palate" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000050638" "00050693" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000118388" "00117925" "1" "00124" "00006" "2009-04-08 14:04:23" "" "" "SEQ" "DNA" "" "" "0000118389" "00117926" "1" "01996" "01996" "2014-12-11 15:19:39" "01996" "2014-12-11 15:22:06" "SEQ" "DNA" "" "" "0000184093" "00183135" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000211977" "00210899" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000466200" "00464560" "1" "04635" "04635" "2025-03-28 03:41:37" "" "" "SEQ-NG" "DNA" "blood" "" "0000468090" "00466427" "1" "04459" "04459" "2025-09-03 10:32:22" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000118388" "RPL10" "0000118389" "RPL10" "0000184093" "GDI1" "0000211977" "RPL10" "0000466200" "RPL10" "0000468090" "RPL10" ## 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 = 83 "{{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}}" "0000008063" "20" "50" "X" "153629155" "153629155" "subst" "0.822944" "00037" "RPL10_000001" "g.153629155A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154400814=" "" "VUS" "" "0000008064" "20" "50" "X" "153630255" "153630255" "subst" "0" "00037" "RPL10_000003" "g.153630255G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154401914=" "" "VUS" "" "0000008065" "20" "50" "X" "153630293" "153630293" "subst" "0" "00037" "DNASE1L1_000003" "g.153630293C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154401952=" "" "VUS" "" "0000010243" "20" "50" "X" "153629155" "153629155" "subst" "0.822944" "00037" "RPL10_000001" "g.153629155A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154400814=" "" "VUS" "" "0000010244" "20" "50" "X" "153630255" "153630255" "subst" "0" "00037" "RPL10_000003" "g.153630255G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154401914=" "" "VUS" "" "0000010245" "20" "50" "X" "153630293" "153630293" "subst" "0" "00037" "DNASE1L1_000003" "g.153630293C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154401952=" "" "VUS" "" "0000079618" "21" "90" "X" "153565841" "154722429" "dup" "0" "00006" "DKC1_000000" "g.153565841_154722429dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "Germline" "" "" "0" "" "" "g.154337626_155494214dup" "" "pathogenic" "" "0000194491" "1" "10" "X" "153629155" "153629155" "subst" "0.822944" "00124" "RPL10_000001" "g.153629155A>G" "119/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 119 times" "Germline" "" "" "0" "" "" "g.154400814=" "" "benign" "" "0000194492" "21" "90" "X" "153628144" "153628144" "subst" "0" "01996" "RPL10_000002" "g.153628144C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154399803C>T" "" "pathogenic" "" "0000248859" "0" "10" "X" "153629155" "153629155" "subst" "0.822944" "02325" "RPL10_000001" "g.153629155A>G" "" "" "" "RPL10(NM_006013.5):c.605A>G (p.N202S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154400814=" "" "benign" "" "0000250519" "0" "90" "X" "153628171" "153628171" "subst" "0" "02329" "RPL10_000004" "g.153628171A>G" "" "" "" "RPL10(NM_001303625.1):c.218A>G (p.N73S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154399830A>G" "" "pathogenic" "" "0000251820" "0" "30" "X" "153641858" "153641858" "subst" "0" "02326" "TAZ_000211" "g.153641858A>G" "" "" "" "TAZ(NM_000116.5):c.324A>G (p.L108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154413521A>G" "" "likely benign" "" "0000265380" "0" "10" "X" "153640406" "153640406" "subst" "0.172719" "02330" "TAZ_000021" "g.153640406C>T" "" "" "" "DNASE1L1(NM_001009932.2):c.-609G>A, TAFAZZIN(NM_000116.5):c.110-17C>T, TAZ(NM_000116.3):c.110-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154412069=" "" "benign" "" "0000301502" "0" "30" "X" "153629248" "153629248" "subst" "0.000509708" "02326" "RPL10_000008" "g.153629248C>T" "" "" "" "RPL10(NM_001256577.2):c.535C>T (p.L179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154400907C>T" "" "likely benign" "" "0000309048" "0" "10" "X" "153642450" "153642450" "subst" "0.00446358" "02330" "TAZ_000114" "g.153642450T>C" "" "" "" "TAFAZZIN(NM_000116.5):c.383T>C (p.F128S), TAZ(NM_000116.3):c.383T>C (p.F128S), TAZ(NM_000116.5):c.383T>C (p.F128S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154414113T>C" "" "benign" "" "0000311713" "0" "70" "X" "153641585" "153641585" "subst" "0" "02325" "TAZ_000007" "g.153641585C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.280C>T (p.R94C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154413248C>T" "" "likely pathogenic" "" "0000311714" "0" "30" "X" "153641601" "153641601" "subst" "0" "02325" "TAZ_000210" "g.153641601T>A" "" "" "" "TAFAZZIN(NM_000116.5):c.284+12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154413264T>A" "" "likely benign" "" "0000311715" "0" "30" "X" "153641885" "153641885" "subst" "1.1198E-5" "02325" "TAZ_000212" "g.153641885G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.351G>A (p.K117=), TAZ(NM_000116.5):c.351G>A (p.K117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154413548G>A" "" "likely benign" "" "0000311716" "0" "30" "X" "153642432" "153642432" "subst" "0" "02325" "TAZ_000213" "g.153642432C>A" "" "" "" "TAFAZZIN(NM_000116.5):c.371-6C>A, TAZ(NM_000116.5):c.371-6C>A, TAZ(NM_001303465.1):c.426-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154414095C>A" "" "likely benign" "" "0000314379" "0" "30" "X" "153642450" "153642450" "subst" "0.00446358" "02326" "TAZ_000114" "g.153642450T>C" "" "" "" "TAFAZZIN(NM_000116.5):c.383T>C (p.F128S), TAZ(NM_000116.3):c.383T>C (p.F128S), TAZ(NM_000116.5):c.383T>C (p.F128S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154414113T>C" "" "likely benign" "" "0000316225" "0" "10" "X" "153640406" "153640406" "subst" "0.172719" "01943" "TAZ_000021" "g.153640406C>T" "" "" "" "DNASE1L1(NM_001009932.2):c.-609G>A, TAFAZZIN(NM_000116.5):c.110-17C>T, TAZ(NM_000116.3):c.110-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154412069=" "" "benign" "" "0000316226" "0" "10" "X" "153640417" "153640417" "subst" "1.15653E-5" "01943" "DNASE1L1_000028" "g.153640417C>T" "" "" "" "TAZ(NM_000116.3):c.110-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154412080C>T" "" "benign" "" "0000316227" "0" "50" "X" "153640455" "153640455" "subst" "0" "01943" "TAZ_000207" "g.153640455G>A" "" "" "" "TAZ(NM_000116.3):c.142G>A (p.E48K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154412118G>A" "" "VUS" "" "0000316228" "0" "10" "X" "153640579" "153640579" "subst" "0" "01943" "TAZ_000208" "g.153640579G>A" "" "" "" "TAZ(NM_000116.3):c.238+28G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154412242G>A" "" "benign" "" "0000316229" "0" "50" "X" "153641559" "153641559" "subst" "5.59901E-6" "01943" "TAZ_000209" "g.153641559G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.254G>A (p.R85H), TAZ(NM_000116.3):c.254G>A (p.R85H), TAZ(NM_000116.5):c.254G>A (p.R85H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154413222G>A" "" "VUS" "" "0000316230" "0" "90" "X" "153641586" "153641586" "subst" "0" "01943" "TAZ_000042" "g.153641586G>A" "" "" "" "TAZ(NM_000116.3):c.281G>A (p.R94H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154413249G>A" "" "pathogenic" "" "0000316231" "0" "10" "X" "153641619" "153641619" "subst" "0.00488141" "01943" "TAZ_000088" "g.153641619C>T" "" "" "" "TAZ(NM_000116.3):c.284+30C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154413282C>T" "" "benign" "" "0000316232" "0" "10" "X" "153642450" "153642450" "subst" "0.00446358" "01943" "TAZ_000114" "g.153642450T>C" "" "" "" "TAFAZZIN(NM_000116.5):c.383T>C (p.F128S), TAZ(NM_000116.3):c.383T>C (p.F128S), TAZ(NM_000116.5):c.383T>C (p.F128S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154414113T>C" "" "benign" "" "0000316233" "0" "50" "X" "153642523" "153642523" "subst" "5.7304E-6" "01943" "TAZ_000214" "g.153642523G>C" "" "" "" "TAZ(NM_000116.3):c.456G>C (p.E152D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154414186G>C" "" "VUS" "" "0000336222" "0" "30" "X" "153629183" "153629183" "subst" "0.00181343" "01804" "RPL10_000006" "g.153629183C>T" "" "" "" "RPL10(NM_001256577.1):c.470C>T (p.(Pro157Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154400842C>T" "" "likely benign" "" "0000336225" "0" "50" "X" "153631291" "153631291" "subst" "1.13352E-5" "01804" "DNASE1L1_000023" "g.153631291C>T" "" "" "" "DNASE1L1(NM_001009932.1):c.766G>A (p.(Glu256Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154402950C>T" "" "VUS" "" "0000336226" "0" "50" "X" "153633161" "153633161" "subst" "5.21491E-5" "01804" "DNASE1L1_000024" "g.153633161G>C" "" "" "" "DNASE1L1(NM_001009932.1):c.311+8C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154404820G>C" "" "VUS" "" "0000336228" "0" "50" "X" "153633896" "153633896" "subst" "0.0001505" "01804" "DNASE1L1_000026" "g.153633896G>A" "" "" "" "DNASE1L1(NM_001009932.1):c.14C>T (p.(Thr5Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154405555G>A" "" "VUS" "" "0000341976" "0" "70" "X" "153628933" "153628933" "subst" "0" "02327" "RPL10_000011" "g.153628933G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154400592G>A" "" "likely pathogenic" "" "0000408062" "20" "90" "X" "153570408" "153861108" "dup" "0" "00006" "FLNA_000307" "g.153570408_153861108dup" "" "{PMID:Hu 2016:25644381}" "" "GDI1" "" "Germline" "" "" "0" "" "" "g.154342193_154632893dup" "" "pathogenic" "" "0000443612" "1" "90" "X" "153631740" "153631740" "subst" "5.62515E-6" "00006" "RPL10_000012" "g.153631740C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.154403399C>T" "" "pathogenic (dominant)" "" "0000574833" "0" "50" "X" "153627842" "153627842" "subst" "0" "01943" "RPL10_000013" "g.153627842A>G" "" "" "" "RPL10(NM_001303625.1):c.97A>G (p.I33V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154399501A>G" "" "VUS" "" "0000574834" "0" "50" "X" "153629115" "153629115" "subst" "0" "01804" "RPL10_000014" "g.153629115C>T" "" "" "" "RPL10(NM_006013.3):c.565C>T (p.(Arg189Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154400774C>T" "" "VUS" "" "0000574836" "0" "30" "X" "153633336" "153633336" "subst" "0.000164809" "01943" "DNASE1L1_000025" "g.153633336C>T" "" "" "" "DNASE1L1(NM_006730.3):c.224G>A (p.R75Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154404995C>T" "" "likely benign" "" "0000574837" "0" "50" "X" "153633782" "153633782" "subst" "0" "01943" "RPL10_000016" "g.153633782A>G" "" "" "" "DNASE1L1(NM_006730.3):c.128T>C (p.L43S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154405441A>G" "" "VUS" "" "0000574838" "0" "10" "X" "153640061" "153640061" "del" "0.852654" "02327" "RPL10_000017" "g.153640061del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000574839" "0" "10" "X" "153640061" "153640061" "dup" "0" "01943" "RPL10_000018" "g.153640061dup" "" "" "" "TAZ(NM_000116.3):c.-120dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000574840" "0" "10" "X" "153640093" "153640093" "subst" "0.00820993" "02327" "TAZ_000004" "g.153640093G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411756G>C" "" "benign" "" "0000574841" "0" "50" "X" "153640210" "153640210" "subst" "0" "02327" "RPL10_000019" "g.153640210C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411873C>A" "" "VUS" "" "0000574842" "0" "30" "X" "153640225" "153640225" "subst" "0" "02327" "RPL10_000020" "g.153640225C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411888C>T" "" "likely benign" "" "0000574843" "0" "30" "X" "153640394" "153640394" "subst" "0" "02327" "RPL10_000021" "g.153640394G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154412057G>T" "" "likely benign" "" "0000574844" "0" "10" "X" "153640406" "153640406" "subst" "0.172719" "02327" "TAZ_000021" "g.153640406C>T" "" "" "" "DNASE1L1(NM_001009932.2):c.-609G>A, TAFAZZIN(NM_000116.5):c.110-17C>T, TAZ(NM_000116.3):c.110-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154412069=" "" "benign" "" "0000574845" "0" "30" "X" "153640412" "153640412" "subst" "0" "02327" "RPL10_000022" "g.153640412T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154412075T>C" "" "likely benign" "" "0000574846" "0" "30" "X" "153640417" "153640417" "subst" "1.15653E-5" "01804" "DNASE1L1_000028" "g.153640417C>T" "" "" "" "TAZ(NM_000116.3):c.110-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154412080C>T" "" "likely benign" "" "0000574847" "0" "50" "X" "153640455" "153640455" "subst" "0" "02330" "RPL10_000023" "g.153640455G>C" "" "" "" "TAFAZZIN(NM_000116.5):c.142G>C (p.E48Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154412118G>C" "" "VUS" "" "0000574848" "0" "50" "X" "153641559" "153641559" "subst" "5.59901E-6" "02326" "TAZ_000209" "g.153641559G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.254G>A (p.R85H), TAZ(NM_000116.3):c.254G>A (p.R85H), TAZ(NM_000116.5):c.254G>A (p.R85H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154413222G>A" "" "VUS" "" "0000574849" "0" "90" "X" "153641586" "153641586" "subst" "0" "02327" "TAZ_000042" "g.153641586G>A" "" "" "" "TAZ(NM_000116.3):c.281G>A (p.R94H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154413249G>A" "" "pathogenic" "" "0000574851" "0" "30" "X" "153641858" "153641858" "subst" "0" "02327" "TAZ_000211" "g.153641858A>G" "" "" "" "TAZ(NM_000116.5):c.324A>G (p.L108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154413521A>G" "" "likely benign" "" "0000574852" "0" "30" "X" "153641885" "153641885" "subst" "1.1198E-5" "02326" "TAZ_000212" "g.153641885G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.351G>A (p.K117=), TAZ(NM_000116.5):c.351G>A (p.K117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154413548G>A" "" "likely benign" "" "0000574853" "0" "50" "X" "153641902" "153641902" "subst" "0" "02330" "RPL10_000024" "g.153641902G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.368G>A (p.R123Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154413565G>A" "" "VUS" "" "0000574854" "0" "30" "X" "153642432" "153642432" "subst" "0" "02326" "TAZ_000213" "g.153642432C>A" "" "" "" "TAFAZZIN(NM_000116.5):c.371-6C>A, TAZ(NM_000116.5):c.371-6C>A, TAZ(NM_001303465.1):c.426-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154414095C>A" "" "likely benign" "" "0000574856" "0" "10" "X" "153642450" "153642450" "subst" "0.00446358" "02327" "TAZ_000114" "g.153642450T>C" "" "" "" "TAFAZZIN(NM_000116.5):c.383T>C (p.F128S), TAZ(NM_000116.3):c.383T>C (p.F128S), TAZ(NM_000116.5):c.383T>C (p.F128S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154414113T>C" "" "benign" "" "0000619311" "0" "50" "X" "153629244" "153629244" "subst" "8.88341E-5" "01943" "RPL10_000015" "g.153629244C>G" "" "" "" "RPL10(NM_001256577.2):c.531C>G (p.Y177*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154400903C>G" "" "VUS" "" "0000619312" "0" "50" "X" "153640224" "153640224" "subst" "0" "02327" "RPL10_000026" "g.153640224T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411887T>G" "" "VUS" "" "0000619313" "0" "50" "X" "153640225" "153640226" "ins" "0" "02327" "RPL10_000027" "g.153640225_153640226insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411888_154411889insT" "" "VUS" "" "0000619314" "0" "50" "X" "153640230" "153640230" "subst" "0" "02327" "RPL10_000028" "g.153640230G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411893G>T" "" "VUS" "" "0000619315" "0" "10" "X" "153640231" "153640231" "subst" "0" "02327" "RPL10_000029" "g.153640231G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411894G>C" "" "benign" "" "0000619316" "0" "50" "X" "153640232" "153640232" "subst" "0" "02327" "RPL10_000030" "g.153640232A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411895A>G" "" "VUS" "" "0000619317" "0" "30" "X" "153640233" "153640233" "subst" "0" "02327" "RPL10_000031" "g.153640233C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411896C>G" "" "likely benign" "" "0000619318" "0" "50" "X" "153640233" "153640233" "subst" "0" "02327" "RPL10_000032" "g.153640233C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411896C>T" "" "VUS" "" "0000619319" "0" "50" "X" "153641880" "153641880" "subst" "0" "02327" "TAZ_000101" "g.153641880G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154413543G>C" "" "VUS" "" "0000624516" "0" "50" "X" "153633349" "153633349" "subst" "0" "01943" "RPL10_000025" "g.153633349G>A" "" "" "" "DNASE1L1(NM_006730.3):c.211C>T (p.R71*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154405008G>A" "" "VUS" "" "0000659208" "0" "30" "X" "153628797" "153628797" "subst" "2.94355E-5" "01943" "RPL10_000005" "g.153628797C>T" "" "" "" "RPL10(NM_001303625.1):c.330-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154400456C>T" "" "likely benign" "" "0000659209" "0" "30" "X" "153640420" "153640420" "del" "0" "01943" "RPL10_000033" "g.153640420del" "" "" "" "TAZ(NM_001303465.1):c.165-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154412083del" "" "likely benign" "" "0000693472" "0" "30" "X" "153629158" "153629158" "subst" "0" "01943" "RPL10_000034" "g.153629158G>A" "" "" "" "RPL10(NM_001303625.1):c.608G>A (p.R203H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728660" "0" "30" "X" "153642432" "153642432" "subst" "0" "01943" "TAZ_000213" "g.153642432C>A" "" "" "" "TAFAZZIN(NM_000116.5):c.371-6C>A, TAZ(NM_000116.5):c.371-6C>A, TAZ(NM_001303465.1):c.426-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810148" "0" "30" "X" "153627745" "153627745" "subst" "4.47392E-5" "01943" "RPL10_000035" "g.153627745G>C" "" "" "" "RPL10(NM_001303625.1):c.82+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856453" "0" "70" "X" "153640181" "153640181" "subst" "0" "02327" "RPL10_000036" "g.153640181A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000867211" "0" "90" "X" "153640510" "153640510" "subst" "0" "02327" "RPL10_000037" "g.153640510T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915652" "0" "50" "X" "153640269" "153640269" "subst" "0" "02330" "RPL10_000038" "g.153640269C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.89C>T (p.T30I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927295" "0" "10" "X" "153640410" "153640410" "subst" "0" "02330" "RPL10_000039" "g.153640410C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.110-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931362" "0" "50" "X" "153641559" "153641559" "subst" "5.59901E-6" "02325" "TAZ_000209" "g.153641559G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.254G>A (p.R85H), TAZ(NM_000116.3):c.254G>A (p.R85H), TAZ(NM_000116.5):c.254G>A (p.R85H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006585" "0" "10" "X" "153641885" "153641885" "subst" "1.1198E-5" "02330" "TAZ_000212" "g.153641885G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.351G>A (p.K117=), TAZ(NM_000116.5):c.351G>A (p.K117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001016009" "0" "30" "X" "153640249" "153640249" "subst" "0" "02325" "RPL10_000040" "g.153640249C>A" "" "" "" "TAFAZZIN(NM_000116.5):c.69C>A (p.V23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027464" "0" "50" "X" "153642476" "153642476" "subst" "0" "02330" "RPL10_000041" "g.153642476G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.409G>A (p.V137I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030099" "21" "90" "X" "153628822" "153628822" "subst" "0" "04635" "RPL10_000042" "g.153628822G>A" "0" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.154400481G>A" "RCV001333474.1" "likely pathogenic (recessive)" "ACMG" "0001044213" "0" "50" "X" "153641559" "153641559" "subst" "5.59901E-6" "02330" "TAZ_000209" "g.153641559G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.254G>A (p.R85H), TAZ(NM_000116.3):c.254G>A (p.R85H), TAZ(NM_000116.5):c.254G>A (p.R85H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047577" "21" "70" "X" "153628935" "153628935" "subst" "0" "04459" "RPL10_000043" "g.153628935A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154400594A>G" "" "likely pathogenic" "ACMG" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RPL10 ## Count = 83 "{{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}}" "0000008063" "00000484" "50" "605" "0" "605" "0" "c.605A>G" "r.(?)" "p.(Asn202Ser)" "" "0000008064" "00000484" "50" "1705" "0" "1705" "0" "c.*1060G>C" "r.(=)" "p.(=)" "" "0000008065" "00000484" "50" "1743" "0" "1743" "0" "c.*1098C>T" "r.(=)" "p.(=)" "" "0000010243" "00000484" "50" "605" "0" "605" "0" "c.605A>G" "r.(?)" "p.(Asn202Ser)" "" "0000010244" "00000484" "50" "1705" "0" "1705" "0" "c.*1060G>C" "r.(?)" "p.(=)" "" "0000010245" "00000484" "50" "1743" "0" "1743" "0" "c.*1098C>T" "r.(=)" "p.(=)" "" "0000079618" "00000484" "00" "-60918" "0" "1093879" "0" "c.-60918_*1093234dup" "" "" "" "0000194491" "00000484" "10" "605" "0" "605" "0" "c.605A>G" "r.(?)" "p.(Asn202Ser)" "?" "0000194492" "00000484" "90" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Ala64Val)" "?" "0000248859" "00000484" "10" "605" "0" "605" "0" "c.605A>G" "r.(?)" "p.(Asn202Ser)" "" "0000250519" "00000484" "90" "218" "0" "218" "0" "c.218A>G" "r.(?)" "p.(Asn73Ser)" "" "0000251820" "00000484" "30" "13308" "0" "13308" "0" "c.*12663A>G" "r.(=)" "p.(=)" "" "0000265380" "00000484" "10" "11856" "0" "11856" "0" "c.*11211C>T" "r.(=)" "p.(=)" "" "0000301502" "00000484" "30" "698" "0" "698" "0" "c.*53C>T" "r.(=)" "p.(=)" "" "0000309048" "00000484" "10" "13900" "0" "13900" "0" "c.*13255T>C" "r.(=)" "p.(=)" "" "0000311713" "00000484" "70" "13035" "0" "13035" "0" "c.*12390C>T" "r.(=)" "p.(=)" "" "0000311714" "00000484" "30" "13051" "0" "13051" "0" "c.*12406T>A" "r.(=)" "p.(=)" "" "0000311715" "00000484" "30" "13335" "0" "13335" "0" "c.*12690G>A" "r.(=)" "p.(=)" "" "0000311716" "00000484" "30" "13882" "0" "13882" "0" "c.*13237C>A" "r.(=)" "p.(=)" "" "0000314379" "00000484" "30" "13900" "0" "13900" "0" "c.*13255T>C" "r.(=)" "p.(=)" "" "0000316225" "00000484" "10" "11856" "0" "11856" "0" "c.*11211C>T" "r.(=)" "p.(=)" "" "0000316226" "00000484" "10" "11867" "0" "11867" "0" "c.*11222C>T" "r.(=)" "p.(=)" "" "0000316227" "00000484" "50" "11905" "0" "11905" "0" "c.*11260G>A" "r.(=)" "p.(=)" "" "0000316228" "00000484" "10" "12029" "0" "12029" "0" "c.*11384G>A" "r.(=)" "p.(=)" "" "0000316229" "00000484" "50" "13009" "0" "13009" "0" "c.*12364G>A" "r.(=)" "p.(=)" "" "0000316230" "00000484" "90" "13036" "0" "13036" "0" "c.*12391G>A" "r.(=)" "p.(=)" "" "0000316231" "00000484" "10" "13069" "0" "13069" "0" "c.*12424C>T" "r.(=)" "p.(=)" "" "0000316232" "00000484" "10" "13900" "0" "13900" "0" "c.*13255T>C" "r.(=)" "p.(=)" "" "0000316233" "00000484" "50" "13973" "0" "13973" "0" "c.*13328G>C" "r.(=)" "p.(=)" "" "0000336222" "00000484" "30" "633" "0" "633" "0" "c.633C>T" "r.(?)" "p.(Ala211=)" "" "0000336225" "00000484" "50" "2741" "0" "2741" "0" "c.*2096C>T" "r.(=)" "p.(=)" "" "0000336226" "00000484" "50" "4611" "0" "4611" "0" "c.*3966G>C" "r.(=)" "p.(=)" "" "0000336228" "00000484" "50" "5346" "0" "5346" "0" "c.*4701G>A" "r.(=)" "p.(=)" "" "0000341976" "00000484" "70" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Arg153His)" "" "0000408062" "00000484" "00" "-56351" "0" "232558" "0" "c.-56351_*231913dup" "r.0?" "p.0?" "" "0000443612" "00000484" "90" "3190" "0" "3190" "0" "c.*2545C>T" "r.spl" "p.?" "" "0000574833" "00000484" "50" "97" "0" "97" "0" "c.97A>G" "r.(?)" "p.(Ile33Val)" "" "0000574834" "00000484" "50" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Trp)" "" "0000574836" "00000484" "30" "4786" "0" "4786" "0" "c.*4141C>T" "r.(=)" "p.(=)" "" "0000574837" "00000484" "50" "5232" "0" "5232" "0" "c.*4587A>G" "r.(=)" "p.(=)" "" "0000574838" "00000484" "10" "11511" "0" "11511" "0" "c.*10866del" "r.(?)" "p.(=)" "" "0000574839" "00000484" "10" "11511" "0" "11511" "0" "c.*10866dup" "r.(?)" "p.(=)" "" "0000574840" "00000484" "10" "11543" "0" "11543" "0" "c.*10898G>C" "r.(=)" "p.(=)" "" "0000574841" "00000484" "50" "11660" "0" "11660" "0" "c.*11015C>A" "r.(=)" "p.(=)" "" "0000574842" "00000484" "30" "11675" "0" "11675" "0" "c.*11030C>T" "r.(=)" "p.(=)" "" "0000574843" "00000484" "30" "11844" "0" "11844" "0" "c.*11199G>T" "r.(=)" "p.(=)" "" "0000574844" "00000484" "10" "11856" "0" "11856" "0" "c.*11211C>T" "r.(=)" "p.(=)" "" "0000574845" "00000484" "30" "11862" "0" "11862" "0" "c.*11217T>C" "r.(=)" "p.(=)" "" "0000574846" "00000484" "30" "11867" "0" "11867" "0" "c.*11222C>T" "r.(=)" "p.(=)" "" "0000574847" "00000484" "50" "11905" "0" "11905" "0" "c.*11260G>C" "r.(=)" "p.(=)" "" "0000574848" "00000484" "50" "13009" "0" "13009" "0" "c.*12364G>A" "r.(=)" "p.(=)" "" "0000574849" "00000484" "90" "13036" "0" "13036" "0" "c.*12391G>A" "r.(=)" "p.(=)" "" "0000574851" "00000484" "30" "13308" "0" "13308" "0" "c.*12663A>G" "r.(=)" "p.(=)" "" "0000574852" "00000484" "30" "13335" "0" "13335" "0" "c.*12690G>A" "r.(=)" "p.(=)" "" "0000574853" "00000484" "50" "13352" "0" "13352" "0" "c.*12707G>A" "r.(=)" "p.(=)" "" "0000574854" "00000484" "30" "13882" "0" "13882" "0" "c.*13237C>A" "r.(=)" "p.(=)" "" "0000574856" "00000484" "10" "13900" "0" "13900" "0" "c.*13255T>C" "r.(=)" "p.(=)" "" "0000619311" "00000484" "50" "694" "0" "694" "0" "c.*49C>G" "r.(=)" "p.(=)" "" "0000619312" "00000484" "50" "11674" "0" "11674" "0" "c.*11029T>G" "r.(=)" "p.(=)" "" "0000619313" "00000484" "50" "11675" "0" "11676" "0" "c.*11030_*11031insT" "r.(=)" "p.(=)" "" "0000619314" "00000484" "50" "11680" "0" "11680" "0" "c.*11035G>T" "r.(=)" "p.(=)" "" "0000619315" "00000484" "10" "11681" "0" "11681" "0" "c.*11036G>C" "r.(=)" "p.(=)" "" "0000619316" "00000484" "50" "11682" "0" "11682" "0" "c.*11037A>G" "r.(=)" "p.(=)" "" "0000619317" "00000484" "30" "11683" "0" "11683" "0" "c.*11038C>G" "r.(=)" "p.(=)" "" "0000619318" "00000484" "50" "11683" "0" "11683" "0" "c.*11038C>T" "r.(=)" "p.(=)" "" "0000619319" "00000484" "50" "13330" "0" "13330" "0" "c.*12685G>C" "r.(=)" "p.(=)" "" "0000624516" "00000484" "50" "4799" "0" "4799" "0" "c.*4154G>A" "r.(=)" "p.(=)" "" "0000659208" "00000484" "30" "330" "-8" "330" "-8" "c.330-8C>T" "r.(=)" "p.(=)" "" "0000659209" "00000484" "30" "11870" "0" "11870" "0" "c.*11225del" "r.(?)" "p.(=)" "" "0000693472" "00000484" "30" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Arg203His)" "" "0000728660" "00000484" "30" "13882" "0" "13882" "0" "c.*13237C>A" "r.(=)" "p.(=)" "" "0000810148" "00000484" "30" "82" "8" "82" "8" "c.82+8G>C" "r.(=)" "p.(=)" "" "0000856453" "00000484" "70" "11631" "0" "11631" "0" "c.*10986A>G" "r.(=)" "p.(=)" "" "0000867211" "00000484" "90" "11960" "0" "11960" "0" "c.*11315T>A" "r.(=)" "p.(=)" "" "0000915652" "00000484" "50" "11719" "0" "11719" "0" "c.*11074C>T" "r.(=)" "p.(=)" "" "0000927295" "00000484" "10" "11860" "0" "11860" "0" "c.*11215C>T" "r.(=)" "p.(=)" "" "0000931362" "00000484" "50" "13009" "0" "13009" "0" "c.*12364G>A" "r.(=)" "p.(=)" "" "0001006585" "00000484" "10" "13335" "0" "13335" "0" "c.*12690G>A" "r.(=)" "p.(=)" "" "0001016009" "00000484" "30" "11699" "0" "11699" "0" "c.*11054C>A" "r.(=)" "p.(=)" "" "0001027464" "00000484" "50" "13926" "0" "13926" "0" "c.*13281G>A" "r.(=)" "p.(=)" "" "0001030099" "00000484" "90" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Arg116Gln)" "" "0001044213" "00000484" "50" "13009" "0" "13009" "0" "c.*12364G>A" "r.(=)" "p.(=)" "" "0001047577" "00000484" "70" "460" "0" "460" "0" "c.460A>G" "r.(?)" "p.(Arg154Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000000209" "0000008063" "0000000209" "0000008064" "0000000209" "0000008065" "0000000210" "0000010243" "0000000210" "0000010244" "0000000210" "0000010245" "0000050638" "0000079618" "0000118388" "0000194491" "0000118389" "0000194492" "0000184093" "0000408062" "0000211977" "0000443612" "0000466200" "0001030099" "0000468090" "0001047577"