### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = XIRP1) # 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}}" "XIRP1" "xin actin-binding repeat containing 1" "3" "p21.33" "unknown" "NG_054927.1" "UD_132439587497" "" "https://www.LOVD.nl/XIRP1" "" "1" "14301" "165904" "609777" "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/XIRP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-22 20:12:13" "00000" "2024-08-28 13:16:32" ## 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}}" "00025379" "XIRP1" "transcript variant 1" "003" "NM_194293.2" "" "NP_919269.2" "" "" "" "-221" "6230" "5532" "39234077" "39224707" "00006" "2019-02-22 20:11:39" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00225698" "" "" "" "4" "" "00006" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "25558065-Fam13DG1935" "00361557" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "13DG1935" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00225698" "00198" "00361557" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198 ## Count = 2 "{{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}}" "0000170804" "00198" "00225698" "00006" "Familial, autosomal recessive" "" "see paper; …, primary microcephaly" "" "" "" "" "" "" "" "" "" "neurogenetic disorder" "" "0000256962" "00139" "00361557" "00006" "Familial, autosomal recessive" "4y" "not syndromic; intellectual disability, primary microcephaly, FTT" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000226765" "00225698" "1" "00006" "00006" "2019-02-22 18:37:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000362785" "00361557" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000226765" "XIRP1" "0000362785" "XIRP1" ## 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 = 43 "{{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}}" "0000315450" "0" "10" "3" "39229900" "39229900" "subst" "0.998792" "02326" "XIRP1_000026" "g.39229900T>C" "" "" "" "XIRP1(NM_194293.4):c.1037A>G (p.Q346R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39188409T>C" "" "benign" "" "0000315451" "0" "30" "3" "39229882" "39229882" "subst" "0.000150756" "02326" "XIRP1_000025" "g.39229882C>T" "" "" "" "XIRP1(NM_194293.4):c.1055G>A (p.R352Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39188391C>T" "" "likely benign" "" "0000315452" "0" "10" "3" "39229590" "39229590" "subst" "0.00128333" "02326" "XIRP1_000024" "g.39229590G>A" "" "" "" "XIRP1(NM_194293.4):c.1347C>T (p.P449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39188099G>A" "" "benign" "" "0000315453" "0" "30" "3" "39229462" "39229462" "subst" "0.000288503" "02326" "XIRP1_000023" "g.39229462C>T" "" "" "" "XIRP1(NM_194293.4):c.1475G>A (p.R492H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39187971C>T" "" "likely benign" "" "0000315454" "0" "70" "3" "39229229" "39229229" "subst" "0.000284564" "02326" "XIRP1_000022" "g.39229229G>A" "" "" "" "XIRP1(NM_194293.4):c.1708C>T (p.R570*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39187738G>A" "" "likely pathogenic" "" "0000315455" "0" "30" "3" "39229196" "39229196" "subst" "0.00705154" "02326" "XIRP1_000021" "g.39229196G>T" "" "" "" "XIRP1(NM_194293.4):c.1741C>A (p.P581T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39187705G>T" "" "likely benign" "" "0000315456" "0" "30" "3" "39229118" "39229118" "subst" "0.000495826" "02326" "XIRP1_000020" "g.39229118C>A" "" "" "" "XIRP1(NM_194293.4):c.1819G>T (p.A607S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39187627C>A" "" "likely benign" "" "0000315457" "0" "10" "3" "39229044" "39229044" "subst" "0.026067" "02326" "XIRP1_000019" "g.39229044C>T" "" "" "" "XIRP1(NM_194293.4):c.1893G>A (p.K631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39187553C>T" "" "benign" "" "0000315458" "0" "10" "3" "39229011" "39229011" "subst" "0.00764023" "02326" "XIRP1_000018" "g.39229011C>T" "" "" "" "XIRP1(NM_194293.4):c.1926G>A (p.R642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39187520C>T" "" "benign" "" "0000315459" "0" "70" "3" "39228974" "39228974" "subst" "4.06458E-6" "02326" "XIRP1_000017" "g.39228974C>A" "" "" "" "XIRP1(NM_194293.4):c.1963G>T (p.E655*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39187483C>A" "" "likely pathogenic" "" "0000315460" "0" "30" "3" "39228941" "39228941" "subst" "0.000723495" "02326" "XIRP1_000016" "g.39228941C>T" "" "" "" "XIRP1(NM_194293.4):c.1996G>A (p.E666K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39187450C>T" "" "likely benign" "" "0000315461" "0" "70" "3" "39228815" "39228815" "subst" "8.02182E-5" "02326" "XIRP1_000015" "g.39228815T>A" "" "" "" "XIRP1(NM_001198621.1):c.2122A>T (p.(Lys708Ter)), XIRP1(NM_194293.4):c.2122A>T (p.K708*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39187324T>A" "" "likely pathogenic" "" "0000315462" "0" "10" "3" "39228772" "39228772" "subst" "0.00703985" "02326" "XIRP1_000014" "g.39228772G>A" "" "" "" "XIRP1(NM_194293.4):c.2165C>T (p.A722V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39187281G>A" "" "benign" "" "0000315463" "0" "50" "3" "39228738" "39228738" "subst" "0" "02326" "XIRP1_000013" "g.39228738C>G" "" "" "" "XIRP1(NM_194293.4):c.2199G>C (p.E733D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39187247C>G" "" "VUS" "" "0000315464" "0" "30" "3" "39228676" "39228676" "subst" "0.0312256" "02326" "XIRP1_000012" "g.39228676T>G" "" "" "" "XIRP1(NM_194293.4):c.2261A>C (p.Q754P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39187185T>G" "" "likely benign" "" "0000315465" "0" "30" "3" "39230676" "39230676" "subst" "0" "02326" "XIRP1_000032" "g.39230676G>A" "" "" "" "XIRP1(NM_194293.4):c.261C>T (p.T87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39189185G>A" "" "likely benign" "" "0000315466" "0" "30" "3" "39230667" "39230667" "subst" "8.52993E-5" "02326" "XIRP1_000031" "g.39230667G>A" "" "" "" "XIRP1(NM_194293.4):c.270C>T (p.D90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39189176G>A" "" "likely benign" "" "0000315467" "0" "30" "3" "39228081" "39228081" "subst" "0.00276996" "02326" "XIRP1_000011" "g.39228081C>T" "" "" "" "XIRP1(NM_194293.4):c.2856G>A (p.P952=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39186590C>T" "" "likely benign" "" "0000315468" "0" "10" "3" "39228043" "39228043" "subst" "0.165828" "02326" "XIRP1_000010" "g.39228043T>G" "" "" "" "XIRP1(NM_194293.4):c.2894A>C (p.H965P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39186552T>G" "" "benign" "" "0000315469" "0" "10" "3" "39227664" "39227664" "subst" "0.164158" "02326" "XIRP1_000009" "g.39227664G>A" "" "" "" "XIRP1(NM_194293.4):c.3273C>T (p.D1091=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39186173G>A" "" "benign" "" "0000315470" "0" "10" "3" "39230610" "39230610" "subst" "0.025989" "02326" "XIRP1_000030" "g.39230610G>A" "" "" "" "XIRP1(NM_194293.4):c.327C>T (p.H109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39189119G>A" "" "benign" "" "0000315471" "0" "30" "3" "39230607" "39230607" "subst" "0.00193318" "02326" "XIRP1_000029" "g.39230607C>G" "" "" "" "XIRP1(NM_194293.4):c.330G>C (p.E110D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39189116C>G" "" "likely benign" "" "0000315472" "0" "30" "3" "39227593" "39227593" "subst" "4.07322E-6" "02326" "XIRP1_000008" "g.39227593G>A" "" "" "" "XIRP1(NM_194293.4):c.3344C>T (p.A1115V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39186102G>A" "" "likely benign" "" "0000315473" "0" "30" "3" "39227495" "39227495" "subst" "0.000721654" "02326" "XIRP1_000007" "g.39227495C>T" "" "" "" "XIRP1(NM_194293.4):c.3442G>A (p.V1148M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39186004C>T" "" "likely benign" "" "0000315474" "0" "30" "3" "39230585" "39230585" "subst" "0.00130774" "02326" "XIRP1_000028" "g.39230585C>T" "" "" "" "XIRP1(NM_194293.4):c.352G>A (p.V118M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39189094C>T" "" "likely benign" "" "0000315475" "0" "10" "3" "39227174" "39227174" "subst" "0.00236176" "02326" "XIRP1_000006" "g.39227174G>A" "" "" "" "XIRP1(NM_194293.4):c.3763C>T (p.P1255S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39185683G>A" "" "benign" "" "0000315476" "0" "30" "3" "39226336" "39226336" "subst" "0.000288989" "02326" "XIRP1_000005" "g.39226336G>A" "" "" "" "XIRP1(NM_194293.4):c.4601C>T (p.(Thr1534Met), p.T1534M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39184845G>A" "" "likely benign" "" "0000315477" "0" "30" "3" "39226158" "39226158" "subst" "0" "02326" "XIRP1_000003" "g.39226158G>T" "" "" "" "XIRP1(NM_194293.4):c.4779C>A (p.S1593R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39184667G>T" "" "likely benign" "" "0000315478" "0" "10" "3" "39226114" "39226114" "subst" "0.151049" "02326" "XIRP1_000002" "g.39226114G>A" "" "" "" "XIRP1(NM_194293.4):c.4823C>T (p.A1608V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39184623G>A" "" "benign" "" "0000315479" "0" "10" "3" "39225585" "39225585" "subst" "0.00757169" "02326" "XIRP1_000001" "g.39225585C>T" "" "" "" "XIRP1(NM_194293.4):c.5352G>A (p.M1784I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39184094C>T" "" "benign" "" "0000329328" "0" "50" "3" "39228815" "39228815" "subst" "8.02182E-5" "01804" "XIRP1_000015" "g.39228815T>A" "" "" "" "XIRP1(NM_001198621.1):c.2122A>T (p.(Lys708Ter)), XIRP1(NM_194293.4):c.2122A>T (p.K708*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39187324T>A" "" "VUS" "" "0000329330" "0" "50" "3" "39230844" "39230844" "subst" "0" "01804" "XIRP1_000033" "g.39230844C>A" "" "" "" "XIRP1(NM_001198621.1):c.93G>T (p.(Glu31Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39189353C>A" "" "VUS" "" "0000341187" "0" "50" "3" "39226364" "39226364" "subst" "1.23571E-5" "02327" "XIRP1_000034" "g.39226364C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39184873C>T" "" "VUS" "" "0000459804" "3" "70" "3" "39226442" "39226442" "subst" "4.59953E-5" "00006" "XIRP1_000035" "g.39226442C>T" "" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39184951C>T" "" "likely pathogenic (recessive)" "" "0000519791" "0" "10" "3" "39226127" "39226127" "subst" "0.195186" "02326" "XIRP1_000036" "g.39226127C>T" "" "" "" "XIRP1(NM_194293.4):c.4810G>A (p.G1604R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39184636C>T" "" "benign" "" "0000519792" "0" "30" "3" "39227052" "39227052" "subst" "0" "02326" "XIRP1_000037" "g.39227052G>A" "" "" "" "XIRP1(NM_194293.4):c.3885C>T (p.H1295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39185561G>A" "" "likely benign" "" "0000519793" "0" "30" "3" "39229781" "39229781" "subst" "0.00422001" "02326" "XIRP1_000038" "g.39229781C>T" "" "" "" "XIRP1(NM_194293.4):c.1156G>A (p.E386K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39188290C>T" "" "likely benign" "" "0000519794" "0" "50" "3" "39230381" "39230381" "subst" "8.15341E-6" "02329" "XIRP1_000039" "g.39230381C>T" "" "" "" "XIRP1(NM_194293.4):c.556G>A (p.G186R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39188890C>T" "" "VUS" "" "0000519795" "0" "10" "3" "39230439" "39230439" "subst" "0.0459257" "02326" "XIRP1_000040" "g.39230439G>A" "" "" "" "XIRP1(NM_194293.4):c.498C>T (p.D166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39188948G>A" "" "benign" "" "0000763159" "3" "90" "3" "39226442" "39226442" "subst" "4.59953E-5" "00006" "XIRP1_000035" "g.39226442C>T" "" "{PMID:Anazi 2017:27431290}" "" "" "" "Germline" "" "" "0" "" "" "g.39184951C>T" "" "pathogenic" "" "0000975811" "0" "50" "3" "39226336" "39226336" "subst" "0.000288989" "01804" "XIRP1_000005" "g.39226336G>A" "" "" "" "XIRP1(NM_194293.4):c.4601C>T (p.(Thr1534Met), p.T1534M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993653" "0" "30" "3" "39228557" "39228557" "subst" "2.43865E-5" "01804" "XIRP1_000041" "g.39228557C>T" "" "" "" "XIRP1(NM_194293.2):c.2380G>A (p.(Ala794Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993654" "0" "30" "3" "39228666" "39228666" "subst" "4.52582E-5" "01804" "XIRP1_000042" "g.39228666G>C" "" "" "" "XIRP1(NM_194293.2):c.2271C>G (p.(Ser757Arg))" "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 XIRP1 ## Count = 43 "{{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}}" "0000315450" "00025379" "10" "1037" "0" "1037" "0" "c.1037A>G" "r.(?)" "p.(Gln346Arg)" "" "0000315451" "00025379" "30" "1055" "0" "1055" "0" "c.1055G>A" "r.(?)" "p.(Arg352Gln)" "" "0000315452" "00025379" "10" "1347" "0" "1347" "0" "c.1347C>T" "r.(?)" "p.(Pro449=)" "" "0000315453" "00025379" "30" "1475" "0" "1475" "0" "c.1475G>A" "r.(?)" "p.(Arg492His)" "" "0000315454" "00025379" "70" "1708" "0" "1708" "0" "c.1708C>T" "r.(?)" "p.(Arg570Ter)" "" "0000315455" "00025379" "30" "1741" "0" "1741" "0" "c.1741C>A" "r.(?)" "p.(Pro581Thr)" "" "0000315456" "00025379" "30" "1819" "0" "1819" "0" "c.1819G>T" "r.(?)" "p.(Ala607Ser)" "" "0000315457" "00025379" "10" "1893" "0" "1893" "0" "c.1893G>A" "r.(?)" "p.(Lys631=)" "" "0000315458" "00025379" "10" "1926" "0" "1926" "0" "c.1926G>A" "r.(?)" "p.(Arg642=)" "" "0000315459" "00025379" "70" "1963" "0" "1963" "0" "c.1963G>T" "r.(?)" "p.(Glu655Ter)" "" "0000315460" "00025379" "30" "1996" "0" "1996" "0" "c.1996G>A" "r.(?)" "p.(Glu666Lys)" "" "0000315461" "00025379" "70" "2122" "0" "2122" "0" "c.2122A>T" "r.(?)" "p.(Lys708Ter)" "" "0000315462" "00025379" "10" "2165" "0" "2165" "0" "c.2165C>T" "r.(?)" "p.(Ala722Val)" "" "0000315463" "00025379" "50" "2199" "0" "2199" "0" "c.2199G>C" "r.(?)" "p.(Glu733Asp)" "" "0000315464" "00025379" "30" "2261" "0" "2261" "0" "c.2261A>C" "r.(?)" "p.(Gln754Pro)" "" "0000315465" "00025379" "30" "261" "0" "261" "0" "c.261C>T" "r.(?)" "p.(Thr87=)" "" "0000315466" "00025379" "30" "270" "0" "270" "0" "c.270C>T" "r.(?)" "p.(Asp90=)" "" "0000315467" "00025379" "30" "2856" "0" "2856" "0" "c.2856G>A" "r.(?)" "p.(Pro952=)" "" "0000315468" "00025379" "10" "2894" "0" "2894" "0" "c.2894A>C" "r.(?)" "p.(His965Pro)" "" "0000315469" "00025379" "10" "3273" "0" "3273" "0" "c.3273C>T" "r.(?)" "p.(Asp1091=)" "" "0000315470" "00025379" "10" "327" "0" "327" "0" "c.327C>T" "r.(?)" "p.(His109=)" "" "0000315471" "00025379" "30" "330" "0" "330" "0" "c.330G>C" "r.(?)" "p.(Glu110Asp)" "" "0000315472" "00025379" "30" "3344" "0" "3344" "0" "c.3344C>T" "r.(?)" "p.(Ala1115Val)" "" "0000315473" "00025379" "30" "3442" "0" "3442" "0" "c.3442G>A" "r.(?)" "p.(Val1148Met)" "" "0000315474" "00025379" "30" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Val118Met)" "" "0000315475" "00025379" "10" "3763" "0" "3763" "0" "c.3763C>T" "r.(?)" "p.(Pro1255Ser)" "" "0000315476" "00025379" "30" "4601" "0" "4601" "0" "c.4601C>T" "r.(?)" "p.(Thr1534Met)" "" "0000315477" "00025379" "30" "4779" "0" "4779" "0" "c.4779C>A" "r.(?)" "p.(Ser1593Arg)" "" "0000315478" "00025379" "10" "4823" "0" "4823" "0" "c.4823C>T" "r.(?)" "p.(Ala1608Val)" "" "0000315479" "00025379" "10" "5352" "0" "5352" "0" "c.5352G>A" "r.(?)" "p.(Met1784Ile)" "" "0000329328" "00025379" "50" "2122" "0" "2122" "0" "c.2122A>T" "r.(?)" "p.(Lys708Ter)" "" "0000329330" "00025379" "50" "93" "0" "93" "0" "c.93G>T" "r.(?)" "p.(Glu31Asp)" "" "0000341187" "00025379" "50" "4573" "0" "4573" "0" "c.4573G>A" "r.(?)" "p.(Ala1525Thr)" "" "0000459804" "00025379" "70" "4495" "0" "4495" "0" "c.4495G>A" "r.(?)" "p.(Glu1499Lys)" "" "0000519791" "00025379" "10" "4810" "0" "4810" "0" "c.4810G>A" "r.(?)" "p.(Gly1604Arg)" "" "0000519792" "00025379" "30" "3885" "0" "3885" "0" "c.3885C>T" "r.(?)" "p.(His1295=)" "" "0000519793" "00025379" "30" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Glu386Lys)" "" "0000519794" "00025379" "50" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Gly186Arg)" "" "0000519795" "00025379" "10" "498" "0" "498" "0" "c.498C>T" "r.(?)" "p.(Asp166=)" "" "0000763159" "00025379" "90" "4495" "0" "4495" "0" "c.4495G>A" "r.(?)" "p.(Glu1499Lys)" "" "0000975811" "00025379" "50" "4601" "0" "4601" "0" "c.4601C>T" "r.(?)" "p.(Thr1534Met)" "" "0000993653" "00025379" "30" "2380" "0" "2380" "0" "c.2380G>A" "r.(?)" "p.(Ala794Thr)" "" "0000993654" "00025379" "30" "2271" "0" "2271" "0" "c.2271C>G" "r.(?)" "p.(Ser757Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000226765" "0000459804" "0000362785" "0000763159"