### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CXorf56)
# 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}}"
"CXorf56" "chromosome X open reading frame 56" "X" "q24" "unknown" "NC_000023.10" "UD_132085266964" "" "https://www.LOVD.nl/STEEP1" "" "1" "26239" "63932" "301012" "1" "1" "1" "1" "NOTE: gene name changed from CXorf56 to STEEP1\r\nThis 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/CXorf56_codingDNA.html" "1" "" "NOTE: gene name changed from CXorf56 to STEEP1" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2023-12-24 13:34:52" "00000" "2025-05-05 21:14:00"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00000418" "CXorf56" "transcript variant 1" "002" "NM_022101.3" "" "NP_071384.1" "" "" "" "-79" "2247" "669" "118672112" "118699397" "00000" "2012-09-13 12:13:26" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{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"
"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"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "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"
"05661" "MRX107" "mental retardation, X-linked, type 107 (MRX107)" "XL" "301013" "" "" "" "00006" "2019-10-15 15:27:06" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}" "{{diseaseid}}"
"CXorf56" "00139"
"CXorf56" "00187"
"CXorf56" "05661"
## Individuals ## Do not remove or alter this header ##
## Count = 8
"{{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" "" "" "" ""
"00058821" "" "" "" "10" "" "01528" "{PMID:Kumar 2016:27222290}, {DOI:Kumar 2016:10.1038/ejhg.2016.46}" "6-generation family with mutliple affected" "M" "no" "Australia" "" "0" "" "" "" ""
"00119120" "" "" "" "5" "" "02233" "{PMID:Verkerk 2018:29374277}" "3-generation family, 6 affected (F, 5M), 7 unaffected carrier females" "M" "no" "Netherlands" "" "0" "" "" "white" "family"
"00172895" "" "" "" "89" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00266162" "" "" "" "1" "" "03448" "{PMID:Rocha 2020:31822863}, {DOI:Rocha 2020:10.1038/s41431-019-0558-3}" "patient" "M" "" "" "" "0" "" "" "" ""
"00266164" "" "" "" "1" "" "03448" "{PMID:Rocha 2020:31822863}, {DOI:Rocha 2020:10.1038/s41431-019-0558-3}" "patient" "M" "no" "" "" "0" "" "" "" ""
"00444512" "" "" "" "1" "" "00006" "{PMID:Riquin 2023:37495270}" "patient" "F" "" "France" "" "0" "" "" "" "Pat14"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 8
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00000209" "01157"
"00058821" "00187"
"00119120" "00139"
"00172895" "00187"
"00266162" "00187"
"00266164" "00187"
"00444512" "05611"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 01157, 05611, 05661
## 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/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"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" "" "" "" "" "" "" ""
"0000046730" "00187" "00058821" "01528" "Familial, X-linked" "" "The individual had non-syndromic X-linked intellectual disability with no observable clinical features noted" "" "" "" "" "" "" "" "" "" ""
"0000094119" "00139" "00119120" "02233" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" ""
"0000137759" "00187" "00172895" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX"
"0000203959" "00187" "00266162" "03448" "Familial, X-linked recessive" "" "intellectual disability (HP:0001249), seizures (HP:0001250), behavioral issues (HP:0000708)" "" "" "" "" "" "" "" "" "MRX-107" ""
"0000203960" "00187" "00266164" "03448" "Familial, X-linked recessive" "" "non syndromic intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "MRX-107" "intellectual disability"
"0000333765" "05611" "00444512" "00006" "Isolated (sporadic)" "10y-20y" "Severe global developmental delay, sat at 15 months, walked at 3.5 years old, no language, axial hypotonia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorders"
## Screenings ## Do not remove or alter this header ##
## Count = 8
"{{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" "" ""
"0000058785" "00058821" "1" "01528" "01528" "2016-02-04 07:45:07" "" "" "SEQ-NG" "DNA" "ThuongHa" ""
"0000119589" "00119120" "1" "02233" "02233" "2017-09-08 10:23:38" "" "" "SEQ-NG" "DNA" "" ""
"0000173778" "00172895" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" ""
"0000267284" "00266162" "1" "03448" "03448" "2019-10-15 08:51:24" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000267286" "00266164" "1" "03448" "03448" "2019-10-15 09:09:24" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000446080" "00444512" "1" "00006" "00006" "2023-12-24 18:16:19" "" "" "SEQ-NG" "DNA" "" "WES, WGS trio"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{geneid}}"
"0000119589" "CXorf56"
"0000173778" "PRRG3"
"0000267286" "CXorf56"
## 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 = 39
"{{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}}"
"0000002121" "0" "50" "X" "118673507" "118673513" "del" "0" "00037" "CXorf56_000008" "g.118673507_118673513del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119539544_119539550del" "" "VUS" ""
"0000002122" "0" "50" "X" "118673506" "118673513" "del" "0" "00037" "CXorf56_000006" "g.118673506_118673513del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119539543_119539550del" "" "VUS" ""
"0000002123" "20" "50" "X" "118679158" "118679158" "dup" "0" "00037" "CXorf56_000020" "g.118679158dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119545195dup" "" "VUS" ""
"0000003192" "0" "50" "X" "118672383" "118672383" "del" "0" "00037" "CXorf56_000017" "g.118672383del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119538420del" "" "VUS" ""
"0000003193" "0" "50" "X" "118673493" "118673499" "del" "0" "00037" "CXorf56_000012" "g.118673493_118673499del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119539530_119539536del" "" "VUS" ""
"0000003194" "0" "50" "X" "118673493" "118673500" "del" "0" "00037" "CXorf56_000014" "g.118673493_118673500del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119539530_119539537del" "" "VUS" ""
"0000003195" "20" "50" "X" "118679158" "118679158" "dup" "0" "00037" "CXorf56_000018" "g.118679158dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119545195dup" "" "VUS" ""
"0000003196" "20" "50" "X" "118699018" "118699018" "del" "0" "00037" "CXorf56_000015" "g.118699018del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119565055del" "" "VUS" ""
"0000007535" "20" "50" "X" "118672126" "118672126" "subst" "0" "00037" "CXorf56_000002" "g.118672126C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119538163C>T" "" "VUS" ""
"0000007536" "20" "50" "X" "118672437" "118672437" "subst" "0" "00037" "CXorf56_000010" "g.118672437G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119538474G>A" "" "VUS" ""
"0000007537" "20" "50" "X" "118672646" "118672646" "subst" "0" "00037" "CXorf56_000011" "g.118672646G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119538683G>A" "" "VUS" ""
"0000007538" "20" "50" "X" "118676215" "118676215" "subst" "0" "00037" "CXorf56_000004" "g.118676215G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119542252G>A" "" "VUS" ""
"0000007539" "20" "50" "X" "118676250" "118676250" "subst" "0" "00037" "CXorf56_000003" "g.118676250T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119542287T>A" "" "VUS" ""
"0000007540" "20" "50" "X" "118678364" "118678364" "subst" "0.641648" "00037" "CXorf56_000005" "g.118678364G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119544401G>A" "" "VUS" ""
"0000007541" "20" "50" "X" "118699320" "118699320" "subst" "0.891073" "00037" "CXorf56_000023" "g.118699320A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119565357A>G" "" "VUS" ""
"0000009654" "20" "50" "X" "118672126" "118672126" "subst" "0" "00037" "CXorf56_000002" "g.118672126C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119538163C>T" "" "VUS" ""
"0000009655" "20" "50" "X" "118672437" "118672437" "subst" "0" "00037" "CXorf56_000010" "g.118672437G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119538474G>A" "" "VUS" ""
"0000009656" "0" "50" "X" "118673507" "118673513" "del" "0" "00037" "CXorf56_000008" "g.118673507_118673513del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119539544_119539550del" "" "VUS" ""
"0000009657" "0" "50" "X" "118673506" "118673513" "del" "0" "00037" "CXorf56_000006" "g.118673506_118673513del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119539543_119539550del" "" "VUS" ""
"0000009658" "20" "50" "X" "118676215" "118676215" "subst" "0" "00037" "CXorf56_000004" "g.118676215G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119542252G>A" "" "VUS" ""
"0000009659" "20" "50" "X" "118678364" "118678364" "subst" "0.641648" "00037" "CXorf56_000005" "g.118678364G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119544401G>A" "" "VUS" ""
"0000009660" "20" "50" "X" "118699320" "118699320" "subst" "0.891073" "00037" "CXorf56_000023" "g.118699320A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119565357A>G" "" "VUS" ""
"0000011174" "20" "50" "X" "118673493" "118673499" "del" "0" "00037" "CXorf56_000012" "g.118673493_118673499del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119539530_119539536del" "" "VUS" ""
"0000011175" "20" "50" "X" "118679158" "118679158" "dup" "0" "00037" "CXorf56_000018" "g.118679158dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119545195dup" "" "VUS" ""
"0000011176" "20" "50" "X" "118699018" "118699018" "del" "0" "00037" "CXorf56_000015" "g.118699018del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119565055del" "" "VUS" ""
"0000015507" "20" "50" "X" "118676250" "118676250" "subst" "0" "00037" "CXorf56_000003" "g.118676250T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119542287T>A" "" "VUS" ""
"0000015509" "20" "50" "X" "118678817" "118678817" "subst" "0" "00037" "CXorf56_000007" "g.118678817C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119544854C>T" "" "VUS" ""
"0000015510" "20" "50" "X" "118678829" "118678829" "subst" "0" "00037" "CXorf56_000009" "g.118678829G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119544866G>A" "" "VUS" ""
"0000089469" "21" "30" "X" "118685882" "118685882" "del" "0" "01528" "CXorf56_000026" "g.118685882del" "" "{PMID:Kumar 2016:27222290}, {DOI:Kumar 2016:10.1038/ejhg.2016.46}" "" "delT" "" "Germline" "" "" "0" "" "" "g.119551919del" "" "likely benign" ""
"0000089470" "21" "30" "X" "118687130" "118687131" "del" "0" "01528" "CXorf56_000027" "g.118687130_118687131delinsA" "" "{PMID:Kumar 2016:27222290}, {DOI:Kumar 2016:10.1038/ejhg.2016.46}" "" "118687129_118687131delAGTinsAA" "118687130_118687131delinsA" "Germline" "" "" "0" "" "" "g.119553167_119553168delinsA" "" "likely benign" ""
"0000195713" "21" "70" "X" "118694313" "118694314" "ins" "0" "02233" "CXorf56_000024" "g.118694313_118694314insTA" "" "{PMID:Verkerk 2018:29374277}" "" "" "" "Germline" "yes" "" "0" "" "" "g.119560350_119560351insTA" "" "likely pathogenic" ""
"0000394017" "1" "50" "X" "118678364" "118678364" "subst" "0.641648" "00124" "CXorf56_000005" "g.118678364G>A" "89/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G125G" "recurrent, found 89 times" "Germline" "" "" "0" "" "" "g.119544401G>A" "" "VUS" ""
"0000573219" "0" "50" "X" "118694313" "118694314" "ins" "0" "01943" "CXorf56_000024" "g.118694313_118694314insTA" "" "" "" "CXorf56(NM_022101.3):c.159_160insTA (p.D54*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119560350_119560351insTA" "" "VUS" ""
"0000598336" "21" "70" "X" "118678435" "118678436" "delins" "0" "03448" "CXorf56_000028" "g.118678435_118678436delinsGGGT" "" "{PMID:Rocha 2020:31822863}, {DOI:Rocha 2020:10.1038/s41431-019-0558-3}" "" "" "" "Germline" "yes" "" "0" "" "" "g.119544472_119544473delinsGGGT" "" "likely pathogenic" ""
"0000598338" "21" "70" "X" "118676486" "118676491" "del" "0" "03448" "CXorf56_000029" "g.118676486_118676491del" "" "{PMID:Rocha 2020:31822863}, {DOI:Rocha 2020:10.1038/s41431-019-0558-3}" "" "" "" "Germline" "yes" "" "0" "" "" "g.119542523_119542528del" "" "likely pathogenic" ""
"0000809813" "0" "30" "X" "118673729" "118673729" "subst" "2.24727E-5" "01943" "CXorf56_000031" "g.118673729C>T" "" "" "" "CXorf56(NM_001170569.1):c.483G>A (p.A161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000809814" "0" "30" "X" "118694224" "118694224" "subst" "5.63568E-6" "01943" "CXorf56_000032" "g.118694224C>T" "" "" "" "CXorf56(NM_022101.3):c.242+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000954336" "0" "70" "X" "118673832" "118675628" "del" "0" "00006" "CXorf56_000033" "g.118673832_118675628del" "" "{PMID:Riquin 2023:37495270}" "" "" "ACMG PVS1, PS2; not detected by WES" "De novo" "" "" "0" "" "" "g.119539869_119541665del" "" "likely pathogenic" "ACMG"
"0001044064" "0" "30" "X" "118694310" "118694310" "subst" "7.85559E-5" "02325" "CXorf56_000034" "g.118694310G>A" "" "" "" "STEEP1(NM_022101.4):c.163C>T (p.R55W)" "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 CXorf56
## Count = 39
"{{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}}"
"0000002121" "00000418" "50" "859" "0" "865" "0" "c.*190_*196del" "r.(=)" "p.(=)" ""
"0000002122" "00000418" "50" "858" "0" "865" "0" "c.*189_*196del" "r.(=)" "p.(=)" ""
"0000002123" "00000418" "50" "284" "271" "284" "271" "c.284+271dup" "r.(=)" "p.(=)" ""
"0000003192" "00000418" "50" "1976" "0" "1976" "0" "c.*1307del" "r.(=)" "p.(=)" ""
"0000003193" "00000418" "50" "860" "0" "866" "0" "c.*191_*197del" "r.(=)" "p.(=)" ""
"0000003194" "00000418" "50" "859" "0" "866" "0" "c.*190_*197del" "r.(=)" "p.(=)" ""
"0000003195" "00000418" "50" "284" "271" "284" "271" "c.284+271dup" "r.(=)" "p.(=)" ""
"0000003196" "00000418" "50" "124" "178" "124" "178" "c.124+178del" "r.(=)" "p.(=)" ""
"0000007535" "00000418" "50" "2233" "0" "2233" "0" "c.*1564G>A" "r.(=)" "p.(=)" ""
"0000007536" "00000418" "50" "1922" "0" "1922" "0" "c.*1253C>T" "r.(=)" "p.(=)" ""
"0000007537" "00000418" "50" "1713" "0" "1713" "0" "c.*1044C>T" "r.(=)" "p.(=)" ""
"0000007538" "00000418" "50" "513" "253" "513" "253" "c.513+253C>T" "r.(=)" "p.(=)" ""
"0000007539" "00000418" "50" "513" "218" "513" "218" "c.513+218A>T" "r.(=)" "p.(=)" ""
"0000007540" "00000418" "50" "375" "0" "375" "0" "c.375C>T" "r.(?)" "p.(=)" ""
"0000007541" "00000418" "50" "-2" "0" "-2" "0" "c.-2T>C" "r.(?)" "p.(=)" ""
"0000009654" "00000418" "50" "2233" "0" "2233" "0" "c.*1564G>A" "r.(=)" "p.(=)" ""
"0000009655" "00000418" "50" "1922" "0" "1922" "0" "c.*1253C>T" "r.(=)" "p.(=)" ""
"0000009656" "00000418" "50" "859" "0" "865" "0" "c.*190_*196del" "r.(=)" "p.(=)" ""
"0000009657" "00000418" "50" "858" "0" "865" "0" "c.*189_*196del" "r.(=)" "p.(=)" ""
"0000009658" "00000418" "50" "513" "253" "513" "253" "c.513+253C>T" "r.(=)" "p.(=)" ""
"0000009659" "00000418" "50" "375" "0" "375" "0" "c.375C>T" "r.(?)" "p.(=)" ""
"0000009660" "00000418" "50" "-2" "0" "-2" "0" "c.-2T>C" "r.(?)" "p.(=)" ""
"0000011174" "00000418" "50" "860" "0" "866" "0" "c.*191_*197del" "r.(=)" "p.(=)" ""
"0000011175" "00000418" "50" "284" "271" "284" "271" "c.284+271dup" "r.(=)" "p.(=)" ""
"0000011176" "00000418" "50" "124" "178" "124" "178" "c.124+178del" "r.(=)" "p.(=)" ""
"0000015507" "00000418" "50" "513" "218" "513" "218" "c.513+218A>T" "r.(=)" "p.(=)" ""
"0000015509" "00000418" "50" "285" "-363" "285" "-363" "c.285-363G>A" "r.(=)" "p.(=)" ""
"0000015510" "00000418" "50" "285" "-375" "285" "-375" "c.285-375C>T" "r.(=)" "p.(=)" ""
"0000089469" "00000418" "30" "243" "-6397" "243" "-6397" "c.243-6397del" "r.(?)" "p.(=)" ""
"0000089470" "00000418" "30" "242" "7100" "242" "7101" "c.242+7100_242+7101delinsT" "r.(?)" "p.(=)" ""
"0000195713" "00000418" "70" "159" "0" "160" "0" "c.159_160insTA" "r.(?)" "p.(Asp54*)" "2"
"0000394017" "00000418" "50" "375" "0" "375" "0" "c.375C>T" "r.(=)" "p.(=)" ""
"0000573219" "00000418" "50" "159" "0" "160" "0" "c.159_160insTA" "r.(?)" "p.(Asp54Ter)" ""
"0000598336" "00000418" "70" "303" "0" "304" "0" "c.303_304delinsACCC" "r.(?)" "p.(Phe101Leufs*20)" ""
"0000598338" "00000418" "70" "498" "0" "503" "0" "c.498_503del" "r.(?)" "p.(Glu167_Glu168del)" "5"
"0000809813" "00000418" "30" "630" "0" "630" "0" "c.630G>A" "r.(?)" "p.(Ala210=)" ""
"0000809814" "00000418" "30" "242" "7" "242" "7" "c.242+7G>A" "r.(=)" "p.(=)" ""
"0000954336" "00000418" "70" "514" "-245" "607" "-80" "c.514-245_607-80del" "r.(514_606del)" "p.?" ""
"0001044064" "00000418" "30" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Arg55Trp)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 35
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000002121"
"0000000209" "0000002122"
"0000000209" "0000002123"
"0000000209" "0000003192"
"0000000209" "0000003193"
"0000000209" "0000003194"
"0000000209" "0000003195"
"0000000209" "0000003196"
"0000000209" "0000007535"
"0000000209" "0000007536"
"0000000209" "0000007537"
"0000000209" "0000007538"
"0000000209" "0000007539"
"0000000209" "0000007540"
"0000000209" "0000007541"
"0000000210" "0000009654"
"0000000210" "0000009655"
"0000000210" "0000009656"
"0000000210" "0000009657"
"0000000210" "0000009658"
"0000000210" "0000009659"
"0000000210" "0000009660"
"0000000210" "0000011174"
"0000000210" "0000011175"
"0000000210" "0000011176"
"0000000210" "0000015507"
"0000000210" "0000015509"
"0000000210" "0000015510"
"0000058785" "0000089469"
"0000058785" "0000089470"
"0000119589" "0000195713"
"0000173778" "0000394017"
"0000267284" "0000598336"
"0000267286" "0000598338"
"0000446080" "0000954336"