### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TBL1XR1) # 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}}" "TBL1XR1" "transducin (beta)-like 1 X-linked receptor 1" "3" "q26.33" "unknown" "NG_047195.1" "UD_136094557042" "" "https://www.LOVD.nl/TBL1XR1" "" "1" "29529" "79718" "608628" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/TBL1XR1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-12-02 17:46:48" "00000" "2025-02-07 18:57:27" ## 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}}" "00020842" "TBL1XR1" "transducin (beta)-like 1 X-linked receptor 1" "001" "NM_024665.4" "" "NP_078941.2" "" "" "" "-261" "6289" "1545" "176915048" "176738542" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05528" "MRD41" "mental retardation, autosomal dominant, type 41 (MRD-41)" "AD" "616944" "" "autosomal dominant" "" "00006" "2018-12-02 17:44:54" "00006" "2021-12-10 21:51:32" "05529" "PRPTS" "Pierpont syndrome (PRPTS)" "AD" "602342" "" "autosomal dominant" "" "00006" "2018-12-02 17:46:12" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TBL1XR1" "05528" "TBL1XR1" "05529" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00050457" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050571" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00207894" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "F" "" "Canada" "" "0" "" "" "" "28771251-Pat107" "00416253" "" "" "" "1" "" "00006" "{PMID:Monroe 2016:26845106}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat10" "00440412" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2185.1" "00458107" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00050457" "00198" "00050571" "00198" "00207894" "00198" "00416253" "00198" "00440412" "00198" "00458107" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05528, 05529, 05611 ## Count = 6 "{{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}}" "0000037069" "00198" "00050457" "00006" "Isolated (sporadic)" "" "long nose, thick upper lip vermilion, upslanted palpebral fissure, large fleshy ears, wide intermamillary distance, brachydactyly syndrome, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000037183" "00198" "00050571" "00006" "Isolated (sporadic)" "" "intellectual disability, hemangioma, oral cleft, seizures, abnormality of the skeletal system, optic disc pallor" "" "" "" "" "" "" "" "" "" "" "" "0000155678" "00198" "00207894" "00006" "Familial, autosomal dominant" "" "Global developmental delay; seizures; generalized hypotonia" "" "" "" "" "" "" "" "" "MRD-41" "" "" "0000308020" "00198" "00416253" "00006" "Unknown" "01y" "36w-birth with an omphalocele, Apgar score of 2/7, development delayed from birth; cyclic neutropenia, \r\ntrombopathy caused by storage pool deficiency; diminished fasting\r\ntolerance resulting in hypoglycemia, disturbed gastric tract motility,\r\nnephropcalcinosis, delayed myelinization; muscle biopsy revealed diminished ATP production, diminished activity of multiple complexes, no mitochondrial DNA abnormalities" "" "" "" "" "" "" "" "" "" "" "" "0000330322" "00198" "00440412" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Autosomal dominant mental retardation-41 (MIM #616944)" "" "" "0000346552" "05611" "00458107" "03544" "Isolated (sporadic)" "" "HP:0001263, HP:0000750, HP:0000271, HP:0000708" "" "" "" "" "" "" "" "" "MRD41, PRPTS" "complex neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050402" "00050457" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050516" "00050571" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000208936" "00207894" "1" "00006" "00006" "2018-12-02 17:52:50" "" "" "SEQ" "DNA" "" "WGS" "0000417533" "00416253" "1" "00006" "00006" "2022-08-25 22:07:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000441897" "00440412" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459725" "00458107" "1" "03544" "03544" "2024-12-01 06:50:27" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000050402" "TBL1XR1" "0000050516" "TBL1XR1" "0000208936" "TBL1XR1" ## 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 = 29 "{{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}}" "0000079382" "0" "90" "3" "176750853" "176750853" "subst" "0" "00006" "TBL1XR1_000002" "g.176750853T>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.177033065T>C" "" "pathogenic" "" "0000079496" "0" "90" "3" "176755900" "176755900" "subst" "0" "00006" "TBL1XR1_000001" "g.176755900C>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.177038112C>A" "" "pathogenic" "" "0000313250" "0" "90" "3" "176765306" "176765306" "subst" "0" "02329" "TBL1XR1_000006" "g.176765306T>C" "" "" "" "TBL1XR1(NM_024665.7):c.734A>G (p.Y245C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177047518T>C" "" "pathogenic" "" "0000329705" "0" "70" "3" "176750800" "176750800" "subst" "0" "01804" "TBL1XR1_000004" "g.176750800T>G" "" "" "" "TBL1XR1(NM_024665.4):c.1375A>C (p.(Ser459Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177033012T>G" "" "likely pathogenic" "" "0000329706" "0" "50" "3" "176756217" "176756217" "subst" "0" "01804" "TBL1XR1_000005" "g.176756217C>G" "" "" "" "TBL1XR1(NM_024665.4):c.931G>C (p.(Ala311Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177038429C>G" "" "VUS" "" "0000329707" "0" "50" "3" "176769377" "176769394" "del" "0" "01804" "TBL1XR1_000007" "g.176769377_176769394del" "" "" "" "TBL1XR1(NM_024665.4):c.333_350del (p.(Ala113_Ala118del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177051589_177051606del" "" "VUS" "" "0000329708" "0" "50" "3" "176769378" "176769378" "subst" "4.08898E-6" "01804" "TBL1XR1_000008" "g.176769378G>A" "" "" "" "TBL1XR1(NM_024665.4):c.341C>T (p.(Ala114Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177051590G>A" "" "VUS" "" "0000339067" "0" "70" "3" "176769406" "176769406" "subst" "0" "02327" "TBL1XR1_000012" "g.176769406G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177051618G>A" "" "likely pathogenic" "" "0000343931" "0" "30" "3" "176768371" "176768371" "subst" "0" "02327" "TBL1XR1_000011" "g.176768371T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177050583T>A" "" "likely benign" "" "0000346431" "0" "70" "3" "176765159" "176765159" "subst" "0" "02327" "TBL1XR1_000010" "g.176765159G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177047371G>A" "" "likely pathogenic" "" "0000350738" "0" "70" "3" "176750925" "176750925" "subst" "0" "02327" "TBL1XR1_000009" "g.176750925C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177033137C>A" "" "likely pathogenic" "" "0000438972" "0" "90" "3" "176750838" "176750838" "subst" "0" "00006" "TBL1XR1_000014" "g.176750838T>C" "" "{PMID:Lionel 2018:28771251}" "" "" "" "De novo" "" "" "0" "" "" "g.177033050T>C" "" "pathogenic" "" "0000518514" "0" "70" "3" "176750844" "176750844" "subst" "0" "02329" "TBL1XR1_000015" "g.176750844G>A" "" "" "" "TBL1XR1(NM_024665.7):c.1331C>T (p.P444L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177033056G>A" "" "likely pathogenic" "" "0000518516" "0" "70" "3" "176765186" "176765186" "del" "0" "01804" "TBL1XR1_000017" "g.176765186del" "" "" "" "TBL1XR1(NM_024665.4):c.767delG (p.(Gly256ValfsTer7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177047398del" "" "likely pathogenic" "" "0000608416" "0" "50" "3" "176768330" "176768330" "subst" "0" "02325" "TBL1XR1_000019" "g.176768330G>A" "" "" "" "TBL1XR1(NM_001321194.3):c.496C>T (p.R166W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177050542G>A" "" "VUS" "" "0000621214" "0" "70" "3" "176767927" "176767927" "subst" "0" "02329" "TBL1XR1_000018" "g.176767927C>T" "" "" "" "TBL1XR1(NM_001321194.3):c.561-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177050139C>T" "" "likely pathogenic" "" "0000654848" "0" "70" "3" "176750839" "176750839" "subst" "0" "02327" "TBL1XR1_000020" "g.176750839A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177033051A>C" "" "likely pathogenic" "" "0000719280" "0" "50" "3" "176752055" "176752055" "del" "0" "02329" "TBL1XR1_000016" "g.176752055del" "" "" "" "TBL1XR1(NM_024665.7):c.1183delT (p.Y395Ifs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719281" "0" "50" "3" "176765106" "176765123" "del" "0" "02327" "TBL1XR1_000021" "g.176765106_176765123del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801079" "0" "50" "3" "176769343" "176769343" "subst" "0" "02325" "TBL1XR1_000022" "g.176769343T>G" "" "" "" "TBL1XR1(NM_024665.7):c.376A>C (p.N126H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850183" "0" "30" "3" "176769373" "176769373" "subst" "6.95171E-5" "02325" "TBL1XR1_000023" "g.176769373C>A" "" "" "" "TBL1XR1(NM_024665.7):c.346G>T (p.A116S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850184" "0" "50" "3" "176782731" "176782731" "subst" "0" "02327" "TBL1XR1_000024" "g.176782731A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000877239" "0" "50" "3" "176750786" "176750786" "subst" "0" "00006" "TBL1XR1_000025" "g.176750786G>C" "" "{PMID:Monroe 2016:26845106}" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000885635" "0" "70" "3" "176771599" "176771599" "subst" "0" "02327" "TBL1XR1_000026" "g.176771599C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923872" "0" "70" "3" "176756131" "176756134" "del" "0" "02329" "TBL1XR1_000027" "g.176756131_176756134del" "" "" "" "TBL1XR1(NM_001321194.3):c.1018_1021delAGAC (p.R340Lfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000939839" "0" "70" "3" "176750839" "176750839" "subst" "0" "00006" "TBL1XR1_000028" "g.176750839A>G" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.177033051A>G" "" "likely pathogenic (dominant)" "" "0000962561" "0" "30" "3" "176767849" "176767849" "subst" "0" "02327" "TBL1XR1_000029" "g.176767849T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001017839" "0" "70" "3" "176755917" "176755917" "subst" "0" "03544" "TBL1XR1_000030" "g.176755917A>C" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.177038129A>C" "{CV:3383964}" "likely pathogenic" "ACMG" "0001024744" "0" "50" "3" "176769328" "176769328" "subst" "4.07521E-6" "02325" "TBL1XR1_000031" "g.176769328C>T" "" "" "" "TBL1XR1(NM_024665.7):c.391G>A (p.A131T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 TBL1XR1 ## Count = 29 "{{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}}" "0000079382" "00020842" "00" "1322" "0" "1322" "0" "c.1322A>G" "r.(?)" "p.(His441Arg)" "" "0000079496" "00020842" "00" "1108" "0" "1108" "0" "c.1108G>T" "r.(?)" "p.(Asp370Tyr)" "" "0000313250" "00020842" "90" "734" "0" "734" "0" "c.734A>G" "r.(?)" "p.(Tyr245Cys)" "" "0000329705" "00020842" "70" "1375" "0" "1375" "0" "c.1375A>C" "r.(?)" "p.(Ser459Arg)" "" "0000329706" "00020842" "50" "931" "0" "931" "0" "c.931G>C" "r.(?)" "p.(Ala311Pro)" "" "0000329707" "00020842" "50" "333" "0" "350" "0" "c.333_350del" "r.(?)" "p.(Ala113_Ala118del)" "" "0000329708" "00020842" "50" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Ala114Val)" "" "0000339067" "00020842" "70" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Gln105Ter)" "" "0000343931" "00020842" "30" "455" "0" "455" "0" "c.455A>T" "r.(?)" "p.(Asp152Val)" "" "0000346431" "00020842" "70" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(His265Tyr)" "" "0000350738" "00020842" "70" "1251" "-1" "1251" "-1" "c.1251-1G>T" "r.spl?" "p.?" "" "0000438972" "00020842" "90" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Tyr446Cys)" "" "0000518514" "00020842" "70" "1331" "0" "1331" "0" "c.1331C>T" "r.(?)" "p.(Pro444Leu)" "" "0000518516" "00020842" "70" "767" "0" "767" "0" "c.767del" "r.(?)" "p.(Gly256ValfsTer7)" "" "0000608416" "00020842" "50" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166Trp)" "" "0000621214" "00020842" "70" "561" "-1" "561" "-1" "c.561-1G>A" "r.spl?" "p.?" "" "0000654848" "00020842" "70" "1336" "0" "1336" "0" "c.1336T>G" "r.(?)" "p.(Tyr446Asp)" "" "0000719280" "00020842" "50" "1183" "0" "1183" "0" "c.1183del" "r.(?)" "p.(Tyr395IlefsTer21)" "" "0000719281" "00020842" "50" "830" "0" "847" "0" "c.830_847del" "r.(?)" "p.(Lys277_Leu282del)" "" "0000801079" "00020842" "50" "376" "0" "376" "0" "c.376A>C" "r.(?)" "p.(Asn126His)" "" "0000850183" "00020842" "30" "346" "0" "346" "0" "c.346G>T" "r.(?)" "p.(Ala116Ser)" "" "0000850184" "00020842" "50" "35" "0" "35" "0" "c.35T>A" "r.(?)" "p.(Val12Glu)" "" "0000877239" "00020842" "50" "1389" "0" "1389" "0" "c.1389C>G" "r.(?)" "p.(Asp463Glu)" "" "0000885635" "00020842" "70" "166" "0" "166" "0" "c.166G>C" "r.(?)" "p.(Gly56Arg)" "" "0000923872" "00020842" "70" "1018" "0" "1021" "0" "c.1018_1021del" "r.(?)" "p.(Arg340Leufs*12)" "" "0000939839" "00020842" "70" "1336" "0" "1336" "0" "c.1336T>C" "r.(?)" "p.(Tyr446His)" "14" "0000962561" "00020842" "30" "638" "0" "638" "0" "c.638A>G" "r.(?)" "p.(His213Arg)" "" "0001017839" "00020842" "70" "1091" "0" "1091" "0" "c.1091T>G" "r.(?)" "p.(Leu364Trp)" "12" "0001024744" "00020842" "50" "391" "0" "391" "0" "c.391G>A" "r.(?)" "p.(Ala131Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000050402" "0000079382" "0000050516" "0000079496" "0000208936" "0000438972" "0000417533" "0000877239" "0000441897" "0000939839" "0000459725" "0001017839"