### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SSR4) # 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}}" "SSR4" "signal sequence receptor, delta" "X" "q28" "unknown" "NC_000023.10" "UD_134752097751" "" "http://www.LOVD.nl/SSR4" "" "1" "11326" "6748" "300090" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/SSR4_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2015-07-24 11:04:08" "00000" "2024-04-19 20:27:30" ## 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}}" "00000458" "SSR4" "transcript variant 2" "004" "NM_006280.2" "" "NP_006271.1" "" "" "" "-124" "601" "522" "153060019" "153063967" "00000" "2012-09-13 12:18:38" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "04228" "CDG1" "glycosylation, congenital disorder of, type I (CDG-1)" "" "" "" "" "" "00006" "2015-03-20 20:29:33" "00006" "2021-12-11 13:56:28" "04675" "CDG1Y" "glycosylation, congenital disorder of?, type Iy (CDG-1Y)" "XLR" "300934" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SSR4" "04675" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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" "" "" "" "" "00046772" "" "" "" "1" "" "01361" "{PMID:Losfeld 2014:24218363}, {DOI:Losfeld 2014:10.1093/hmg/ddt550}" "2-generation family, 1 affected" "M" "no" "United States" ">16y" "0" "" "" "" "" "00046788" "" "" "" "1" "" "01361" "" "" "M" "-" "" "" "0" "" "" "Asian" "" "00046792" "" "" "" "1" "" "01361" "" "" "M" "-" "Brazil" "" "0" "" "" "" "" "00046793" "" "" "" "1" "" "01361" "" "" "M" "-" "United States" "" "0" "" "" "" "" "00046794" "" "" "" "1" "" "01361" "" "" "M" "-" "United States" "" "0" "" "" "" "" "00046795" "" "" "" "1" "" "01361" "" "" "M" "-" "United States" "" "0" "" "" "" "" "00173710" "" "" "" "9" "" "00006" "Shvetsova, submitted" "RNAseq trio analysis" "F" "no" "Netherlands" "" "0" "" "" "" "SSR4-var3" "00173711" "" "" "" "1" "" "00006" "Shvetsova, submitted" "RNAseq trio analysis" "F" "no" "Netherlands" "" "0" "" "" "" "SSR4-var1" "00173712" "" "" "" "1" "" "00006" "Shvetsova, submitted" "RNAseq trio analysis" "F" "no" "Netherlands" "" "0" "" "" "" "SSR4-var2" "00183137" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 1 unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "25644381-FamAU29" "00308040" "" "" "" "1" "" "00006" "{PMID:Mahler 2019:31056085}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "no" "Germany" "" "0" "" "" "" "Pat19" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00046772" "04228" "00046788" "04228" "00046792" "04228" "00046793" "04228" "00046794" "04228" "00046795" "04228" "00173710" "00000" "00183137" "00187" "00308040" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00187, 00198, 01157, 04228, 04675 ## Count = 5 "{{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}}" "0000034296" "04228" "00046772" "01361" "Isolated (sporadic)" "" "see paper; at birth:microcephaly, dysmorphic features (excess skin around tneck and micrognathia), displayed increased fat pads, mild hypospadias, clinodactyly 4th/5th toes bilaterally, ..." "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000143891" "00187" "00183137" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000233466" "00198" "00308040" "00006" "Isolated (sporadic)" "" "moderate global developmental delay, short stature, deafness" "" "" "" "" "" "" "" "" "" "CDG1Y" "developmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{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" "" "" "0000046881" "00046772" "1" "01361" "01361" "2015-07-24 07:53:47" "00006" "2015-07-24 10:57:22" "SEQ-NG" "DNA" "" "" "0000046897" "00046788" "1" "01361" "01361" "2015-07-24 21:47:00" "" "" "SEQ-NG" "DNA" "blood" "" "0000046901" "00046792" "1" "01361" "01361" "2015-07-24 22:35:12" "" "" "SEQ-NG" "DNA" "Blood" "" "0000046902" "00046793" "1" "01361" "01361" "2015-07-24 22:42:59" "" "" "arrayCNV" "DNA" "Blood" "" "0000046903" "00046794" "1" "01361" "01361" "2015-07-24 22:46:20" "" "" "SEQ-NG" "DNA" "Blood" "" "0000046904" "00046795" "1" "01361" "01361" "2015-07-24 22:50:43" "" "" "SEQ-NG" "DNA" "Blood" "" "0000174599" "00173710" "1" "00006" "00006" "2018-07-30 10:10:20" "00006" "2018-07-30 10:23:09" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "" "0000174600" "00173711" "1" "00006" "00006" "2018-07-30 10:28:35" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "" "0000174601" "00173712" "1" "00006" "00006" "2018-07-30 10:28:35" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "" "0000184095" "00183137" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000309184" "00308040" "1" "00006" "00006" "2020-08-25 19:47:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000046881" "SSR4" "0000174599" "SSR4" "0000174600" "SSR4" "0000174601" "SSR4" "0000184095" "MECP2" ## 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 = 28 "{{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}}" "0000008039" "20" "30" "X" "153062772" "153062772" "subst" "0" "00037" "SSR4_000001" "g.153062772T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.153797317T>C" "" "likely benign" "" "0000010207" "20" "30" "X" "153062772" "153062772" "subst" "0" "00037" "SSR4_000001" "g.153062772T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.153797317T>C" "" "likely benign" "" "0000075361" "0" "90" "X" "153063235" "153063235" "del" "0" "01361" "SSR4_000002" "g.153063235del" "" "{PMID:Losfeld 2014:24218363}, {DOI:Losfeld 2014:10.1093/hmg/ddt550}, {OMIM300090:0001}" "" "316delT (F106Sfs*53)" "cells show absence of SSR4 protein, 0.5 reduced levels of SSR1-3" "De novo" "-" "" "0" "" "" "g.153797780del" "" "pathogenic" "" "0000075431" "0" "90" "X" "153062612" "153063511" "del" "0" "01361" "SSR4_000007" "g.153062612_153063511del" "" "" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000075432" "0" "90" "X" "153063532" "153063533" "del" "0" "01361" "SSR4_000005" "g.153063532_153063533del" "" "" "" "356_357delAG" "" "De novo" "yes" "" "0" "" "" "g.153798077_153798078del" "" "pathogenic" "" "0000075433" "21" "90" "X" "153031975" "153105401" "del" "0" "01361" "SSR4_000004" "g.153031975_153105401del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.153766520_153839946del" "" "pathogenic" "" "0000075434" "0" "90" "X" "153063592" "153063592" "subst" "0" "01361" "SSR4_000003" "g.153063592G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.153798137G>A" "" "pathogenic" "" "0000075435" "0" "90" "X" "153063783" "153063783" "subst" "0" "01361" "SSR4_000006" "g.153063783G>C" "" "" "" "442-1G>C" "" "Germline" "yes" "" "0" "" "" "g.153798328G>C" "" "pathogenic" "" "0000315754" "0" "30" "X" "153060205" "153060205" "subst" "6.88638E-5" "01943" "SSR4_000010" "g.153060205C>T" "" "" "" "SSR4(NM_001204527.1):c.87C>T (p.C29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153794750C>T" "" "likely benign" "" "0000336084" "0" "50" "X" "153068927" "153068927" "subst" "0" "01804" "PDZD4_000014" "g.153068927T>G" "" "" "" "PDZD4(NM_032512.2):c.2191A>C (p.(Lys731Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153803472T>G" "" "VUS" "" "0000394377" "1" "30" "X" "153061775" "153061775" "subst" "0" "00006" "SSR4_000014" "g.153061775A>G" "" "Shvetsova, submitted" "" "ENSG00000180879: ..." "bi-allelic expression observed, gene escapes X-inactivation (9 informative cases)" "Germline" "-" "rs2239714" "0" "" "" "g.153796320A>G" "" "likely benign" "" "0000394378" "2" "10" "X" "153061775" "153061775" "" "0" "00006" "SSR4_000015" "g.153061775=" "" "Shvetsova, submitted" "" "" "bi-allelic expression observed, gene escapes X-inactivation (9 informative cases)" "Germline" "-" "" "0" "" "" "g.153796320=" "" "benign" "" "0000394453" "1" "10" "X" "153061717" "153061717" "subst" "0" "00006" "SSR4_000016" "g.153061717T>C" "" "Shvetsova, submitted" "" "" "bi-allelic expression observed, gene escapes X-inactivation (1 informative case)" "Germline" "-" "rs150497073" "0" "" "" "g.153796262T>C" "" "benign" "" "0000394454" "1" "10" "X" "153061556" "153061556" "subst" "0" "00006" "SSR4_000017" "g.153061556G>C" "" "Shvetsova, submitted" "" "" "bi-allelic expression observed, gene escapes X-inactivation (5 informative cases)" "Germline" "-" "rs6643794" "0" "" "" "g.153796101G>C" "" "benign" "" "0000408064" "21" "90" "X" "152710806" "153609906" "dup" "0" "00006" "MECP2_002820" "g.152710806_153609906dup" "" "{PMID:Hu 2016:25644381}" "" "MECP2" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000574373" "0" "30" "X" "153055671" "153055671" "subst" "0" "01804" "SRPK3_000020" "g.153055671A>C" "" "" "" "IDH3G(NM_004135.3):c.212T>G (p.(Leu71Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153790216A>C" "" "likely benign" "" "0000574377" "0" "70" "X" "153063536" "153063545" "del" "0" "01804" "SSR4_000019" "g.153063536_153063545del" "" "" "" "SSR4(NM_001204526.1):c.390_399del (p.(Asn132ThrfsTer36))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153798081_153798090del" "" "likely pathogenic" "" "0000619184" "0" "30" "X" "153060187" "153060187" "subst" "0" "01943" "SSR4_000020" "g.153060187G>C" "" "" "" "SSR4(NM_001204527.1):c.69G>C (p.L23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153794732G>C" "" "likely benign" "" "0000619185" "0" "30" "X" "153061941" "153061941" "subst" "0.000542906" "01943" "SSR4_000021" "g.153061941C>T" "" "" "" "SSR4(NM_001204527.1):c.144C>T (p.D48=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153796486C>T" "" "likely benign" "" "0000683684" "0" "90" "X" "153034617" "153060208" "del" "0" "00006" "SSR4_000022" "g.(?_153034617)_(153060208_?)del" "" "{PMID:Mahler 2019:31056085}" "" "chr.X:153,034,617-153,060,208" "del Xq28, genes SSR4, PLXNB3, SRPK3, IDH3G" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000728575" "0" "30" "X" "153063860" "153063860" "subst" "0" "01943" "SSR4_000023" "g.153063860T>A" "" "" "" "SSR4(NM_001204527.1):c.518T>A (p.F173Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810068" "0" "50" "X" "153060138" "153060146" "dup" "0" "01943" "SSR4_000024" "g.153060138_153060146dup" "" "" "" "SSR4(NM_001204527.1):c.20_28dupAGGCGATGG (p.E7_M9dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810069" "0" "30" "X" "153061983" "153061983" "subst" "0" "01943" "SSR4_000025" "g.153061983C>T" "" "" "" "SSR4(NM_001204527.1):c.186C>T (p.S62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867176" "0" "30" "X" "153061923" "153061923" "subst" "1.67978E-5" "01943" "SSR4_000026" "g.153061923C>T" "" "" "" "SSR4(NM_001204527.1):c.126C>T (p.S42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895985" "0" "30" "X" "153063508" "153063508" "subst" "0.000134677" "02325" "SSR4_000027" "g.153063508C>T" "" "" "" "SSR4(NM_001204526.1):c.385-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895986" "0" "50" "X" "153063890" "153063890" "subst" "3.23379E-5" "02325" "SSR4_000028" "g.153063890G>A" "" "" "" "SSR4(NM_001204526.1):c.*2G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951703" "0" "30" "X" "153062018" "153062018" "subst" "0.000231162" "02325" "SSR4_000029" "g.153062018G>C" "" "" "" "SSR4(NM_001204526.1):c.219+11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984536" "0" "30" "X" "153056297" "153056297" "subst" "5.64723E-6" "01804" "SSR4_000030" "g.153056297C>T" "" "" "" "IDH3G(NM_004135.4):c.91G>A (p.(Ala31Thr))" "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 SSR4 ## Count = 28 "{{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}}" "0000008039" "00000458" "30" "187" "-141" "187" "-141" "c.187-141T>C" "r.(?)" "p.(=)" "2i" "0000010207" "00000458" "30" "187" "-141" "187" "-141" "c.187-141T>C" "r.(?)" "p.(=)" "2i" "0000075361" "00000458" "90" "317" "0" "317" "0" "c.317del" "r.(?)" "p.(Phe106Serfs*54)" "4" "0000075431" "00000458" "90" "188" "0" "351" "0" "c.188_351del" "r.0?" "p.0?" "" "0000075432" "00000458" "90" "358" "0" "359" "0" "c.358_359del" "r.(?)" "p.(Arg120Glufs*2)" "5" "0000075433" "00000458" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_6_" "0000075434" "00000458" "90" "417" "1" "417" "1" "c.417+1G>A" "r.spl" "p.?" "5i" "0000075435" "00000458" "90" "418" "-1" "418" "-1" "c.418-1G>C" "r.spl" "p.?" "" "0000315754" "00000458" "30" "63" "0" "63" "0" "c.63C>T" "r.(?)" "p.(Cys21=)" "" "0000336084" "00000458" "50" "5561" "0" "5561" "0" "c.*5039T>G" "r.(=)" "p.(=)" "" "0000394377" "00000458" "30" "68" "-114" "68" "-114" "c.68-114A>G" "r.=" "p.=" "1i" "0000394378" "00000458" "10" "68" "-114" "68" "-114" "c.68-114=" "r.=" "p.=" "1i" "0000394453" "00000458" "10" "68" "-172" "68" "-172" "c.68-172T>C" "r.=" "p.=" "1i" "0000394454" "00000458" "10" "68" "-333" "68" "-333" "c.68-333G>C" "r.=" "p.=" "1i" "0000408064" "00000458" "00" "-349337" "0" "546540" "0" "c.-349337_*546018dup" "r.0?" "p.0?" "" "0000574373" "00000458" "30" "-4472" "0" "-4472" "0" "c.-4472A>C" "r.(?)" "p.(=)" "" "0000574377" "00000458" "70" "362" "0" "371" "0" "c.362_371del" "r.(?)" "p.(Asn121ThrfsTer36)" "" "0000619184" "00000458" "30" "45" "0" "45" "0" "c.45G>C" "r.(?)" "p.(Leu15=)" "" "0000619185" "00000458" "30" "120" "0" "120" "0" "c.120C>T" "r.(?)" "p.(Asp40=)" "" "0000683684" "00000458" "90" "0" "0" "0" "0" "c.-124_(66_?){0}" "r.0?" "p.0?" "" "0000728575" "00000458" "30" "494" "0" "494" "0" "c.494T>A" "r.(?)" "p.(Phe165Tyr)" "" "0000810068" "00000458" "50" "-5" "0" "4" "0" "c.-5_4dup" "r.(?)" "p.(Ala2Aspfs*40)" "" "0000810069" "00000458" "30" "162" "0" "162" "0" "c.162C>T" "r.(?)" "p.(Ser54=)" "" "0000867176" "00000458" "30" "102" "0" "102" "0" "c.102C>T" "r.(?)" "p.(Ser34=)" "" "0000895985" "00000458" "30" "352" "-18" "352" "-18" "c.352-18C>T" "r.(=)" "p.(=)" "" "0000895986" "00000458" "50" "524" "0" "524" "0" "c.*2G>A" "r.(=)" "p.(=)" "" "0000951703" "00000458" "30" "186" "11" "186" "11" "c.186+11G>C" "r.(=)" "p.(=)" "" "0000984536" "00000458" "30" "-3846" "0" "-3846" "0" "c.-3846C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000000209" "0000008039" "0000000210" "0000010207" "0000046881" "0000075361" "0000046897" "0000075431" "0000046901" "0000075432" "0000046902" "0000075433" "0000046903" "0000075434" "0000046904" "0000075435" "0000174599" "0000394377" "0000174599" "0000394378" "0000174600" "0000394454" "0000174601" "0000394453" "0000184095" "0000408064" "0000309184" "0000683684"