### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NUP93) # 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}}" "NUP93" "nucleoporin 93kDa" "16" "q13" "unknown" "NG_052904.1" "UD_132378518822" "" "https://www.LOVD.nl/NUP93" "" "1" "28958" "9688" "614351" "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/NUP93_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-06-29 10:00:32" "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}}" "00014935" "NUP93" "transcript variant 1" "001" "NM_014669.4" "" "NP_055484.3" "" "" "" "-121" "2801" "2460" "56764017" "56878862" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00399" "NPHS" "nephrotic syndrome (NPHS)" "" "" "" "" "" "00006" "2014-06-06 10:05:35" "00006" "2018-07-03 16:45:22" "05447" "NPHS12" "nephrotic syndrome, type 12 (NPHS-12)" "AR" "616892" "" "autosomal recessive" "" "00006" "2018-06-29 10:02:06" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NUP93" "00399" "NUP93" "05447" ## 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}}" "00165159" "" "" "" "2" "" "01996" "" "" "M" "no" "Italy" "" "0" "" "" "" "" "00165177" "" "" "" "1" "" "00006" "{PMID:Braun 2016:26878725}" "2-generation family, 1 affecteds, unaffected heterozygous carrier parents" "F" "" "Serbia" "" "0" "" "" "" "26878725-FamA2403Pat21" "00165178" "" "" "" "1" "" "00006" "{PMID:Braun 2016:26878725}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Germany" "" "0" "" "" "" "26878725-FamAA3256Pat21" "00165179" "" "" "" "1" "" "00006" "{PMID:Braun 2016:26878725}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Germany" "" "0" "" "" "" "26878725-FamA1394Pat21" "00165180" "" "" "" "2" "" "00006" "{PMID:Braun 2016:26878725}" "2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents" "F;M" "no" "Turkey" "" "0" "" "" "" "26878725-FamA1626Pat21/22" "00165181" "" "" "" "1" "" "00006" "{PMID:Braun 2016:26878725}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "26878725-FamA1671Pat21" "00165182" "" "" "" "1" "" "00006" "{PMID:Braun 2016:26878725}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "26878725-FamA2241Pat21" "00448546" "" "" "" "1" "" "03676" "" "" "F" "yes" "Egypt" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00165177" "00399" "00165178" "00399" "00165179" "00399" "00165180" "00399" "00165181" "00399" "00165182" "00399" "00448546" "00399" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00399, 05447 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000130053" "00399" "00165177" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "NPHS-12" "nephrotic syndrome" "0000130054" "00399" "00165178" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "NPHS-12" "nephrotic syndrome" "0000130055" "00399" "00165179" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "NPHS-12" "nephrotic syndrome" "0000130056" "00399" "00165180" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "NPHS-12" "nephrotic syndrome" "0000130057" "00399" "00165181" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "NPHS-12" "nephrotic syndrome" "0000130058" "00399" "00165182" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "NPHS-12" "nephrotic syndrome" ## 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}}" "0000166034" "00165159" "1" "01996" "01996" "2018-06-28 16:40:15" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000166053" "00165177" "1" "00006" "00006" "2018-06-29 10:11:27" "" "" "SEQ" "DNA" "" "" "0000166054" "00165178" "1" "00006" "00006" "2018-06-29 10:15:07" "" "" "SEQ" "DNA" "" "" "0000166055" "00165179" "1" "00006" "00006" "2018-06-29 10:18:01" "00006" "2018-06-29 10:22:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000166056" "00165180" "1" "00006" "00006" "2018-06-29 10:24:32" "" "" "SEQ" "DNA" "" "" "0000166057" "00165181" "1" "00006" "00006" "2018-06-29 10:27:04" "" "" "SEQ" "DNA" "" "" "0000166058" "00165182" "1" "00006" "00006" "2018-06-29 10:29:20" "" "" "SEQ" "DNA" "" "" "0000450136" "00448546" "1" "03676" "03676" "2024-04-08 12:43:51" "" "" "SEQ-NG" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000166034" "NUP93" "0000166053" "NUP93" "0000166054" "NUP93" "0000166055" "NUP93" "0000166056" "NUP93" "0000166057" "NUP93" "0000166058" "NUP93" "0000450136" "NUP93" ## 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 = 32 "{{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}}" "0000369898" "0" "90" "16" "56868111" "56868111" "subst" "1.62466E-5" "01996" "NUP93_000007" "g.56868111C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.56834199C>T" "" "pathogenic" "" "0000369917" "11" "90" "16" "56865830" "56865830" "subst" "0.000755809" "00006" "NUP93_000002" "g.56865830C>T" "" "{PMID:Braun 2016:26878725}" "" "" "" "Germline" "" "" "0" "" "" "g.56831918C>T" "" "pathogenic" "" "0000369918" "21" "90" "16" "56868680" "56868680" "subst" "0.000126334" "00006" "NUP93_000003" "g.56868680G>T" "" "{PMID:Braun 2016:26878725}" "" "" "" "Germline" "" "" "0" "" "" "g.56834768G>T" "" "pathogenic" "" "0000369919" "21" "90" "16" "56866281" "56866281" "del" "0" "00006" "NUP93_000004" "g.56866281del" "" "{PMID:Braun 2016:26878725}" "" "1326delG" "" "Germline" "" "" "0" "" "" "g.56832369del" "" "pathogenic" "" "0000369920" "11" "90" "16" "56868680" "56868680" "subst" "0.000126334" "00006" "NUP93_000003" "g.56868680G>T" "" "{PMID:Braun 2016:26878725}" "" "" "" "Germline" "" "" "0" "" "" "g.56834768G>T" "" "pathogenic" "" "0000369921" "11" "90" "16" "56868680" "56868680" "subst" "0.000126334" "00006" "NUP93_000003" "g.56868680G>T" "" "{PMID:Braun 2016:26878725}" "" "" "" "Germline" "" "" "0" "" "" "g.56834768G>T" "" "pathogenic" "" "0000369922" "21" "90" "16" "56867319" "56867319" "subst" "5.81889E-6" "00006" "NUP93_000005" "g.56867319G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.56833407G>A" "" "pathogenic" "" "0000369923" "3" "90" "16" "56868680" "56868680" "subst" "0.000126334" "00006" "NUP93_000003" "g.56868680G>T" "" "{PMID:Braun 2016:26878725}" "" "" "" "Germline" "" "" "0" "" "" "g.56834768G>T" "" "pathogenic" "" "0000369924" "3" "90" "16" "56870616" "56870616" "subst" "4.07378E-6" "00006" "NUP93_000006" "g.56870616A>G" "" "{PMID:Braun 2016:26878725}" "" "" "" "Germline" "" "" "0" "" "" "g.56836704A>G" "" "pathogenic" "" "0000369925" "3" "90" "16" "56870616" "56870616" "subst" "4.07378E-6" "00006" "NUP93_000006" "g.56870616A>G" "" "{PMID:Braun 2016:26878725}" "" "" "" "Germline" "" "" "0" "" "" "g.56836704A>G" "" "pathogenic" "" "0000680608" "0" "30" "16" "56782347" "56782347" "subst" "0.0020739" "02326" "NUP93_000008" "g.56782347T>G" "" "" "" "NUP93(NM_014669.5):c.179+9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725854" "0" "30" "16" "56782312" "56782312" "subst" "0.00121606" "02326" "NUP93_000009" "g.56782312G>A" "" "" "" "NUP93(NM_014669.5):c.153G>A (p.T51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725855" "0" "30" "16" "56868050" "56868050" "subst" "0.000686484" "02326" "NUP93_000010" "g.56868050G>A" "" "" "" "NUP93(NM_001242795.2):c.1179G>A (p.E393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854556" "0" "30" "16" "56782276" "56782276" "subst" "0.000541293" "02326" "NUP93_000011" "g.56782276G>A" "" "" "" "NUP93(NM_014669.5):c.117G>A (p.A39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854557" "0" "30" "16" "56852644" "56852644" "subst" "0.00343435" "02326" "NUP93_000012" "g.56852644G>A" "" "" "" "NUP93(NM_014669.5):c.558G>A (p.A186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854558" "0" "30" "16" "56867142" "56867142" "subst" "7.80539E-5" "01943" "NUP93_000013" "g.56867142C>T" "" "" "" "NUP93(NM_001242795.1):c.992C>T (p.T331M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854559" "0" "50" "16" "56868144" "56868144" "subst" "5.28013E-5" "01943" "NUP93_000014" "g.56868144C>T" "" "" "" "NUP93(NM_001242795.1):c.1273C>T (p.L425F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854560" "0" "50" "16" "56872910" "56872910" "subst" "0" "01943" "NUP93_000016" "g.56872910T>A" "" "" "" "NUP93(NM_001242795.1):c.1696T>A (p.F566I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854561" "0" "10" "16" "56875731" "56875731" "subst" "0.00162229" "02326" "NUP93_000017" "g.56875731G>A" "" "" "" "NUP93(NM_014669.5):c.2335G>A (p.E779K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864854" "0" "50" "16" "56868649" "56868649" "subst" "4.07362E-6" "02327" "NUP93_000015" "g.56868649G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893067" "0" "30" "16" "56832376" "56832376" "subst" "0.000146353" "02326" "NUP93_000018" "g.56832376C>A" "" "" "" "NUP93(NM_014669.5):c.298-12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893068" "0" "30" "16" "56857680" "56857680" "subst" "0.00127182" "02326" "NUP93_000019" "g.56857680C>T" "" "" "" "NUP93(NM_014669.5):c.716C>T (p.T239M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893069" "0" "30" "16" "56868107" "56868107" "subst" "0.000487401" "02326" "NUP93_000020" "g.56868107C>T" "" "" "" "NUP93(NM_014669.5):c.1605C>T (p.Y535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893070" "0" "70" "16" "56873415" "56873415" "subst" "0.000240968" "02326" "NUP93_000021" "g.56873415G>A" "" "" "" "NUP93(NM_014669.5):c.2137-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914646" "0" "10" "16" "56857753" "56857753" "subst" "0.00284908" "02326" "NUP93_000022" "g.56857753G>A" "" "" "" "NUP93(NM_014669.5):c.789G>A (p.E263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914647" "0" "30" "16" "56867237" "56867237" "subst" "0.000905129" "02326" "NUP93_000023" "g.56867237C>T" "" "" "" "NUP93(NM_014669.5):c.1456C>T (p.R486C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930622" "0" "30" "16" "56868657" "56868657" "subst" "0.000757175" "02326" "NUP93_000024" "g.56868657T>G" "" "" "" "NUP93(NM_014669.5):c.1749T>G (p.I583M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968407" "0" "30" "16" "56868030" "56868030" "dup" "0" "02326" "NUP93_000025" "g.56868030dup" "" "" "" "NUP93(NM_014669.5):c.1538-10dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000972095" "3" "70" "16" "56852640" "56852640" "subst" "1.62497E-5" "03676" "NUP93_000026" "g.56852640A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.56818728A>G" "" "VUS" "ACMG" "0000981952" "0" "30" "16" "56855487" "56855487" "subst" "0.00105602" "02326" "NUP93_000027" "g.56855487C>T" "" "" "" "NUP93(NM_014669.5):c.636C>T (p.V212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981953" "0" "30" "16" "56868309" "56868309" "subst" "0.00182462" "02326" "NUP93_000028" "g.56868309C>T" "" "" "" "NUP93(NM_014669.5):c.1692C>T (p.N564=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041205" "0" "50" "16" "56868076" "56868076" "subst" "0.000187042" "01804" "NUP93_000029" "g.56868076G>A" "" "" "" "NUP93(NM_014669.5):c.1574G>A (p.(Arg525Gln))" "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 NUP93 ## Count = 32 "{{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}}" "0000369898" "00014935" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Trp)" "" "0000369917" "00014935" "90" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388Trp)" "" "0000369918" "00014935" "90" "1772" "0" "1772" "0" "c.1772G>T" "r.(?)" "p.(Gly591Val)" "16" "0000369919" "00014935" "90" "1326" "0" "1326" "0" "c.1326del" "r.(?)" "p.(Lys442Asnfs*14)" "12" "0000369920" "00014935" "90" "1772" "0" "1772" "0" "c.1772G>T" "r.(?)" "p.(Gly591Val)" "16" "0000369921" "00014935" "90" "1772" "0" "1772" "0" "c.1772G>T" "r.(?)" "p.(Gly591Val)" "16" "0000369922" "00014935" "90" "1537" "1" "1537" "1" "c.1537+1G>A" "r.1346_1537del" "p.Gly449_Leu513delinsVal" "13i" "0000369923" "00014935" "90" "1772" "0" "1772" "0" "c.1772G>T" "r.(?)" "p.(Gly591Val)" "16" "0000369924" "00014935" "90" "1886" "0" "1886" "0" "c.1886A>G" "r.(?)" "p.(Tyr629Cys)" "17" "0000369925" "00014935" "90" "1886" "0" "1886" "0" "c.1886A>G" "r.(?)" "p.(Tyr629Cys)" "17" "0000680608" "00014935" "30" "179" "9" "179" "9" "c.179+9T>G" "r.(=)" "p.(=)" "" "0000725854" "00014935" "30" "153" "0" "153" "0" "c.153G>A" "r.(?)" "p.(Thr51=)" "" "0000725855" "00014935" "30" "1548" "0" "1548" "0" "c.1548G>A" "r.(?)" "p.(Glu516=)" "" "0000854556" "00014935" "30" "117" "0" "117" "0" "c.117G>A" "r.(?)" "p.(Ala39=)" "" "0000854557" "00014935" "30" "558" "0" "558" "0" "c.558G>A" "r.(?)" "p.(Ala186=)" "" "0000854558" "00014935" "30" "1361" "0" "1361" "0" "c.1361C>T" "r.(?)" "p.(Thr454Met)" "" "0000854559" "00014935" "50" "1642" "0" "1642" "0" "c.1642C>T" "r.(?)" "p.(Leu548Phe)" "" "0000854560" "00014935" "50" "2065" "0" "2065" "0" "c.2065T>A" "r.(?)" "p.(Phe689Ile)" "" "0000854561" "00014935" "10" "2335" "0" "2335" "0" "c.2335G>A" "r.(?)" "p.(Glu779Lys)" "" "0000864854" "00014935" "50" "1741" "0" "1741" "0" "c.1741G>A" "r.(?)" "p.(Asp581Asn)" "" "0000893067" "00014935" "30" "298" "-12" "298" "-12" "c.298-12C>A" "r.(=)" "p.(=)" "" "0000893068" "00014935" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "0000893069" "00014935" "30" "1605" "0" "1605" "0" "c.1605C>T" "r.(?)" "p.(Tyr535=)" "" "0000893070" "00014935" "70" "2137" "-18" "2137" "-18" "c.2137-18G>A" "r.(=)" "p.(=)" "" "0000914646" "00014935" "10" "789" "0" "789" "0" "c.789G>A" "r.(?)" "p.(Glu263=)" "" "0000914647" "00014935" "30" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Cys)" "" "0000930622" "00014935" "30" "1749" "0" "1749" "0" "c.1749T>G" "r.(?)" "p.(Ile583Met)" "" "0000968407" "00014935" "30" "1538" "-10" "1538" "-10" "c.1538-10dup" "r.(=)" "p.(=)" "" "0000972095" "00014935" "70" "554" "0" "554" "0" "c.554A>G" "r.(?)" "p.(Tyr185Cys)" "" "0000981952" "00014935" "30" "636" "0" "636" "0" "c.636C>T" "r.(?)" "p.(=)" "" "0000981953" "00014935" "30" "1692" "0" "1692" "0" "c.1692C>T" "r.(?)" "p.(=)" "" "0001041205" "00014935" "50" "1574" "0" "1574" "0" "c.1574G>A" "r.(?)" "p.(Arg525Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000166034" "0000369898" "0000166053" "0000369917" "0000166053" "0000369918" "0000166054" "0000369919" "0000166054" "0000369920" "0000166055" "0000369921" "0000166055" "0000369922" "0000166056" "0000369923" "0000166057" "0000369924" "0000166058" "0000369925" "0000450136" "0000972095"