### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CTNS) # 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}}" "CTNS" "cystinosin, lysosomal cystine transporter" "17" "p13" "unknown" "NG_012489.2" "UD_128352945275" "" "https://www.LOVD.nl/CTNS" "" "1" "2518" "1497" "606272" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CTNS_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2019-09-27 11:34:05" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00001475" "CTNS" "transcript variant 2" "001" "NM_004937.2" "" "NP_004928.2" "" "" "" "-593" "3838" "1104" "3539762" "3566397" "00000" "2012-09-13 13:35:02" "" "" "00025446" "CTNS" "transcript variant 1" "002" "NM_001031681.2" "" "NP_001026851.2" "" "" "" "-470" "3572" "1203" "3539762" "3566397" "00008" "2019-07-18 14:39:24" "" "" ## 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" "" "" "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" "01736" "-" "Cystinosis, ocular nonnephropathic" "" "219750" "" "" "" "00006" "2014-09-25 23:29:40" "" "" "01737" "CTNS" "Cystinosis, nephropathic" "AR" "219800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01738" "-" "cystinosis, late-onset juvenile or adolescent nephropathic" "" "219900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-03-20 12:15:43" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "CTNS" "01736" "CTNS" "01737" "CTNS" "01738" ## Individuals ## Do not remove or alter this header ## ## Count = 98 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00247991" "" "" "" "1" "" "00000" "" "" "" "" "Mexico" "" "0" "" "" "" "" "00247992" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "(Germany;UK);UK" "" "00247993" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "(Poland;Germany);UK" "" "00247994" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247995" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "(Ireland;Sweden);(Ireland;France)" "" "00247996" "" "" "" "1" "" "00000" "" "" "" "" "Italy" "" "0" "" "" "" "" "00247997" "" "" "" "1" "" "00000" "" "" "" "" "Romania" "" "0" "" "" "" "" "00247998" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "Scandinavia" "" "00247999" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248000" "" "" "" "14" "" "00000" "" "" "" "" "" "" "0" "" "" "Europe" "" "00248001" "" "" "" "1" "" "01941" "" "" "" "" "Mexico" "" "0" "" "" "" "" "00248002" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "Kurd; (Afghanistan;(UK;France))" "" "00248003" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248004" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248005" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248006" "" "" "" "2" "" "00000" "" "" "" "" "Spain" "" "0" "" "" "" "" "00248007" "" "" "" "1" "" "00000" "" "" "" "" "France" "" "0" "" "" "" "" "00248008" "" "" "" "2" "" "00000" "" "" "" "" "Switzerland" "" "0" "" "" "" "" "00248009" "" "" "" "1" "" "00000" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00248010" "" "" "" "3" "" "00000" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00248011" "" "" "" "1" "" "00000" "" "" "" "" "Norway" "" "0" "" "" "" "" "00248012" "" "" "" "1" "" "00000" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Scotland" "" "00248013" "" "" "" "1" "" "00000" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Wales" "" "00248014" "" "" "" "15" "" "00000" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Ireland" "" "00248015" "" "" "" "13" "" "00000" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "England" "" "00248016" "" "" "" "4" "" "00000" "" "" "" "" "Iceland" "" "0" "" "" "" "" "00248017" "" "" "" "38" "" "00000" "" "" "" "" "Germany" "" "0" "" "" "" "" "00248018" "" "" "" "2" "" "00000" "" "" "" "" "Italy" "" "0" "" "" "" "" "00248019" "" "" "" "12" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248020" "" "" "" "2" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248021" "" "" "" "1" "" "00000" "" "" "" "" "France" "" "0" "" "" "" "" "00248022" "" "" "" "1" "" "00000" "" "" "" "" "France" "" "0" "" "" "" "" "00248023" "" "" "" "23" "" "00000" "" "" "" "" "" "" "0" "" "" "Europe" "" "00248024" "" "" "" "1" "" "01941" "" "" "" "" "Mexico" "" "0" "" "" "" "" "00248025" "" "" "" "1" "" "01941" "" "" "" "" "Mexico" "" "0" "" "" "" "" "00248026" "" "" "" "1" "" "00000" "" "" "" "" "India" "" "0" "" "" "" "" "00248027" "" "" "" "1" "" "00000" "" "" "" "" "Germany" "" "0" "" "" "" "" "00248028" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2008:18752449}" "" "M" "" "Mexico" "" "0" "" "" "Mexican" "" "00248029" "" "" "" "1" "" "00000" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00248030" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "(Netherlands;UK);Hungary" "" "00248031" "" "" "" "1" "" "00000" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00248032" "" "" "" "1" "" "00000" "" "" "" "" "France" "" "0" "" "" "" "" "00248033" "" "" "" "1" "" "00000" "" "" "" "" "France" "" "0" "" "" "" "" "00248034" "" "" "" "1" "" "00000" "" "" "" "" "France" "" "0" "" "" "" "" "00248035" "" "" "" "1" "" "01941" "" "compound heterozygous CTNS genotype: c.[1029_1040del];[22_23del]" "F" "" "Mexico" "" "0" "" "" "Mexican" "" "00248036" "" "" "" "1" "" "00000" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00248037" "" "" "" "1" "" "01941" "" "" "" "" "Mexico" "" "0" "" "" "" "" "00248038" "" "" "" "2" "" "00000" "" "" "" "" "Morocco" "" "0" "" "" "" "" "00248039" "" "" "" "1" "" "00000" "" "" "" "" "France" "" "0" "" "" "" "" "00248040" "" "" "" "2" "" "01941" "{PMID:Alcantara-Ortigoza 2008:18752449}" "two siblings" "M" "" "Mexico" "" "0" "" "" "Mexican" "" "00248041" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248042" "" "" "" "1" "" "00000" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Wales (UK;Germany)" "" "00248043" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "(Norway;UK);(Germany;UK)" "" "00248044" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248045" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248046" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "(Germany;UK);Germany" "" "00248047" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "France;UK" "" "00248048" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "France;Sweden" "" "00248049" "" "" "" "1" "" "00000" "" "" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "" "00248050" "" "" "" "1" "" "00000" "" "" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "" "00248051" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248052" "" "" "" "1" "" "00000" "" "" "" "" "France" "" "0" "" "" "" "" "00248053" "" "" "" "1" "" "00000" "" "" "" "" "Germany" "" "0" "" "" "" "" "00248054" "" "" "" "1" "" "00000" "" "" "" "" "France" "" "0" "" "" "" "" "00248055" "" "" "" "1" "" "00000" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00248056" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248057" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248058" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248059" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248060" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248061" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248062" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248063" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248064" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248065" "" "" "" "1" "" "00000" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Ireland" "" "00248066" "" "" "" "1" "" "00000" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Eire" "" "00248067" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248068" "" "" "" "1" "" "00000" "" "" "" "" "France" "" "0" "" "" "" "" "00248069" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "(Austria;Switzerland);(Denmark;Ireland)" "" "00248070" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "Germany;UK" "" "00248071" "" "" "" "1" "" "00000" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00248072" "" "" "" "1" "" "00000" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00248073" "" "" "" "1" "" "00000" "" "" "" "" "France" "" "0" "" "" "" "" "00248074" "" "" "" "1" "" "00000" "" "" "" "" "Italy" "" "0" "" "" "" "" "00248075" "" "" "" "1" "" "00000" "" "" "" "" "Portugal" "" "0" "" "" "" "" "00248076" "" "" "" "2" "" "01941" "" "two siblings" "" "yes" "Mexico" "" "0" "" "" "" "" "00248077" "" "" "" "1" "" "00000" "" "" "" "" "Dominican Republic" "" "0" "" "" "" "" "00248078" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248079" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "(Germany;Ireland);?" "" "00248080" "" "" "" "1" "" "00000" "" "" "" "" "United States" "" "0" "" "" "African-American" "" "00248081" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248082" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00265486" "" "" "" "1" "" "03432" "" "" "M" "yes" "Russian Federation" "" "0" "" "" "" "" "00291684" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291685" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00418505" "" "" "" "1" "" "00006" "{PMID:He 2022:35121647}" "" "" "" "China" "" "0" "" "" "" "Fam2" "00451648" "" "" "" "1" "" "04221" "Unpubllished" "Familial case. Co-occurrence of two different monogenic diseases" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-082" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 98 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00247991" "01737" "00247992" "01737" "00247993" "01737" "00247994" "01737" "00247995" "01737" "00247996" "01737" "00247997" "01737" "00247998" "01737" "00247999" "01737" "00248000" "01737" "00248001" "01737" "00248002" "01737" "00248003" "01737" "00248004" "01737" "00248005" "01737" "00248006" "01737" "00248007" "01737" "00248008" "01737" "00248009" "01737" "00248010" "01737" "00248011" "01737" "00248012" "01737" "00248013" "01737" "00248014" "01737" "00248015" "01737" "00248016" "01737" "00248017" "01737" "00248018" "01737" "00248019" "01737" "00248020" "01737" "00248021" "01737" "00248022" "01737" "00248023" "01737" "00248024" "01737" "00248025" "01737" "00248026" "01737" "00248027" "01737" "00248028" "01737" "00248029" "01737" "00248030" "01737" "00248031" "01737" "00248032" "01737" "00248033" "01737" "00248034" "01737" "00248035" "01737" "00248036" "01737" "00248037" "01737" "00248038" "01737" "00248039" "01737" "00248040" "01738" "00248041" "01737" "00248042" "01737" "00248043" "01737" "00248044" "01738" "00248045" "01737" "00248046" "01737" "00248047" "01737" "00248048" "01737" "00248049" "01737" "00248050" "01737" "00248051" "00000" "00248052" "01737" "00248053" "01737" "00248054" "01737" "00248055" "01737" "00248056" "01737" "00248057" "01737" "00248058" "01737" "00248059" "01737" "00248060" "01737" "00248061" "01737" "00248062" "01737" "00248063" "01737" "00248064" "01737" "00248065" "01737" "00248066" "01737" "00248067" "00000" "00248068" "01737" "00248069" "01737" "00248070" "01737" "00248071" "01737" "00248072" "01737" "00248073" "01737" "00248074" "01737" "00248075" "01737" "00248076" "01737" "00248077" "01737" "00248078" "00000" "00248079" "01737" "00248080" "01737" "00248081" "00000" "00248082" "00000" "00265486" "01737" "00291684" "00198" "00291685" "00198" "00418505" "00198" "00451648" "01737" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01157, 01736, 01737, 01738 ## Count = 30 "{{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}}" "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" "" "" "" "" "" "" "" "" "" "0000187058" "01737" "00247991" "00000" "-" "" "severity score 2.7" "" "" "" "" "" "" "" "" "" "" "" "0000187059" "01737" "00247992" "00000" "-" "" "severity score 2.0" "" "" "" "" "" "" "" "" "" "" "" "0000187060" "01737" "00247993" "00000" "-" "" "severity score 1.3" "" "" "" "" "" "" "" "" "" "" "" "0000187061" "01737" "00247995" "00000" "-" "" "severity score 2.3" "" "" "" "" "" "" "" "" "" "" "" "0000187062" "01737" "00247996" "00000" "-" "" "severity score 1.7" "" "" "" "" "" "" "" "" "" "" "" "0000187063" "01737" "00248002" "00000" "-" "" "severity score 1.0" "" "" "" "" "" "" "" "" "" "" "" "0000187064" "01737" "00248026" "00000" "-" "" "severity score 1.3" "" "" "" "" "" "" "" "" "" "" "" "0000187065" "01737" "00248027" "00000" "-" "" "severity score 2.3" "" "" "" "" "" "" "" "" "" "" "" "0000187066" "01737" "00248029" "00000" "-" "" "severity score 2.7" "" "" "" "" "" "" "" "" "" "" "" "0000187067" "01737" "00248030" "00000" "-" "" "severity score 2.5" "" "" "" "" "" "" "" "" "" "" "" "0000187068" "01737" "00248035" "01941" "Familial, autosomal recessive" "" "classic nephropathic cystinosis" "" "" "" "" "" "" "" "" "" "" "" "0000187069" "01738" "00248040" "01941" "Familial, autosomal recessive" "" "juvenile nephropathic type" "" "" "" "" "" "" "" "" "" "" "" "0000187070" "01737" "00248042" "00000" "-" "" "severity score 2.0" "" "" "" "" "" "" "" "" "" "" "" "0000187071" "01737" "00248043" "00000" "-" "" "severity score 1.3" "" "" "" "" "" "" "" "" "" "" "" "0000187072" "01737" "00248046" "00000" "-" "" "severity score 2.0" "" "" "" "" "" "" "" "" "" "" "" "0000187073" "01737" "00248047" "00000" "-" "" "severity score 1.7" "" "" "" "" "" "" "" "" "" "" "" "0000187074" "01737" "00248048" "00000" "-" "" "severity score 2.0" "" "" "" "" "" "" "" "" "" "" "" "0000187075" "01737" "00248069" "00000" "-" "" "severity score 2.0" "" "" "" "" "" "" "" "" "" "" "" "0000187076" "01737" "00248070" "00000" "-" "" "severity score 2.5" "" "" "" "" "" "" "" "" "" "" "" "0000187077" "01737" "00248074" "00000" "-" "" "severity score 1.5" "" "" "" "" "" "" "" "" "" "" "" "0000187078" "01737" "00248075" "00000" "-" "" "severity score 1.7" "" "" "" "" "" "" "" "" "" "" "" "0000187079" "01737" "00248077" "00000" "-" "" "severity score 2.0" "" "" "" "" "" "" "" "" "" "" "" "0000187080" "01737" "00248079" "00000" "-" "" "severity score 1.5" "" "" "" "" "" "" "" "" "" "" "" "0000187081" "01737" "00248080" "00000" "-" "" "severity score 1.3" "" "" "" "" "" "" "" "" "" "" "" "0000187082" "01737" "00248028" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187083" "01737" "00248076" "00008" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187084" "01737" "00248037" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000203282" "01737" "00265486" "03432" "Familial, autosomal recessive" "04y" "" "" "" "" "" "" "" "" "" "infantile nephropathic cystinosis" "infantile nephropathic cystinosis" "" "0000340309" "01737" "00451648" "04221" "Familial, autosomal recessive" "" "Mild intellectual disability, cerebral stroke, seizures, renal failure (Unilateral renal transplant). Co-occurrence with Alport syndrome 1" "" "10y" "" "" "" "" "" "" "Cystinosis, nephropathic" "Cystinosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 98 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000249096" "00247991" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SEQ" "DNA" "" "" "0000249097" "00247992" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SEQ" "DNA" "" "" "0000249098" "00247993" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SEQ" "DNA" "" "" "0000249099" "00247994" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SEQ" "DNA" "" "" "0000249100" "00247995" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SEQ" "DNA" "" "" "0000249101" "00247996" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SEQ" "DNA" "" "" "0000249102" "00247997" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SEQ" "DNA" "" "" "0000249103" "00247998" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SEQ" "DNA" "" "" "0000249104" "00247999" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SEQ" "DNA" "" "" "0000249105" "00248000" "1" "00000" "00006" "2010-05-31 16:56:37" "" "" "SEQ" "DNA" "" "" "0000249106" "00248001" "1" "01941" "01941" "2010-06-18 20:24:06" "" "" "RT-PCR;PCR" "DNA;RNA" "" "" "0000249107" "00248002" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249108" "00248003" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "PCR" "DNA" "" "" "0000249109" "00248004" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "PCR" "DNA" "" "" "0000249110" "00248005" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "PCR" "DNA" "" "" "0000249111" "00248006" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "PCR" "DNA" "" "" "0000249112" "00248007" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "PCR" "DNA" "" "" "0000249113" "00248008" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "PCR" "DNA" "" "" "0000249114" "00248009" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "PCR" "DNA" "" "" "0000249115" "00248010" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "PCR" "DNA" "" "" "0000249116" "00248011" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "PCR" "DNA" "" "" "0000249117" "00248012" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "PCR" "DNA" "" "" "0000249118" "00248013" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "PCR" "DNA" "" "" "0000249119" "00248014" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "PCR" "DNA" "" "" "0000249120" "00248015" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "PCR" "DNA" "" "" "0000249121" "00248016" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "PCR" "DNA" "" "" "0000249122" "00248017" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "PCR" "DNA" "" "" "0000249123" "00248018" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "PCR" "DNA" "" "" "0000249124" "00248019" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "PCR" "DNA" "" "" "0000249125" "00248020" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "PCR" "DNA" "" "" "0000249126" "00248021" "1" "00000" "00006" "2010-05-30 16:19:11" "00006" "2010-05-31 15:50:44" "SEQ" "DNA" "" "" "0000249127" "00248022" "1" "00000" "00006" "2010-05-30 16:19:11" "00006" "2010-05-31 15:52:39" "SEQ" "DNA" "" "" "0000249128" "00248023" "1" "00000" "00006" "2010-05-31 16:56:37" "" "" "PCR" "DNA" "" "" "0000249129" "00248024" "1" "01941" "01941" "2010-06-18 20:24:06" "" "" "RT-PCR;PCR" "DNA;RNA" "" "" "0000249130" "00248025" "1" "01941" "01941" "2010-06-18 20:24:06" "" "" "PCR;SEQ" "DNA;RNA" "" "" "0000249131" "00248026" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249132" "00248027" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249133" "00248028" "1" "01941" "01941" "2010-05-29 22:25:14" "00006" "2010-05-30 12:40:21" "SSCA" "DNA" "" "" "0000249134" "00248029" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249135" "00248030" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249136" "00248031" "1" "00000" "00006" "2010-05-30 16:19:11" "00006" "2010-05-31 16:07:24" "SEQ;SSCA" "DNA" "" "" "0000249137" "00248032" "1" "00000" "00006" "2010-05-31 16:45:22" "" "" "SEQ;SSCA" "DNA" "" "" "0000249138" "00248033" "1" "00000" "00006" "2010-05-31 16:45:22" "" "" "SEQ;SSCA" "DNA" "" "" "0000249139" "00248034" "1" "00000" "00006" "2010-05-31 16:45:22" "" "" "SEQ;SSCA" "DNA" "" "" "0000249140" "00248035" "1" "01941" "01941" "2010-06-30 20:27:25" "00006" "2010-09-03 15:52:12" "SSCA" "DNA" "" "" "0000249141" "00248036" "1" "00000" "00006" "2010-05-31 16:45:22" "00006" "2010-06-17 17:37:48" "SEQ;SSCA" "DNA" "" "" "0000249142" "00248037" "1" "01941" "01941" "2010-05-27 05:37:49" "00006" "2010-05-28 19:38:40" "SSCA" "DNA" "" "" "0000249143" "00248038" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SEQ" "DNA" "" "" "0000249144" "00248039" "1" "00000" "00006" "2010-05-31 16:45:22" "" "" "SEQ;SSCA" "DNA" "" "" "0000249145" "00248040" "1" "01941" "01941" "2010-05-29 21:45:26" "00006" "2010-06-17 17:44:55" "SSCA" "DNA" "" "" "0000249146" "00248041" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249147" "00248042" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249148" "00248043" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249149" "00248044" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SEQ" "DNA" "" "" "0000249150" "00248045" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249151" "00248046" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249152" "00248047" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249153" "00248048" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249154" "00248049" "1" "00000" "00006" "2010-05-30 16:19:11" "00006" "2010-05-31 15:48:04" "SEQ" "DNA" "" "" "0000249155" "00248050" "1" "00000" "00006" "2010-05-30 16:19:11" "00006" "2010-05-31 15:48:38" "SEQ" "DNA" "" "" "0000249156" "00248051" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SEQ;SSCA" "DNA" "" "" "0000249157" "00248052" "1" "00000" "00006" "2010-05-30 16:19:11" "00006" "2010-05-31 16:24:26" "SEQ;SSCA" "DNA" "" "" "0000249158" "00248053" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249159" "00248054" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249160" "00248055" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249161" "00248056" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249162" "00248057" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249163" "00248058" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249164" "00248059" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249165" "00248060" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249166" "00248061" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249167" "00248062" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249168" "00248063" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249169" "00248064" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249170" "00248065" "1" "00000" "00006" "2010-05-30 16:19:11" "00006" "2010-05-31 16:10:54" "SEQ;SSCA" "DNA" "" "" "0000249171" "00248066" "1" "00000" "00006" "2010-05-30 16:19:11" "00006" "2010-05-31 16:11:32" "SEQ;SSCA" "DNA" "" "" "0000249172" "00248067" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249173" "00248068" "1" "00000" "00006" "2010-05-31 16:45:22" "" "" "SEQ;SSCA" "DNA" "" "" "0000249174" "00248069" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249175" "00248070" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249176" "00248071" "1" "00000" "00006" "2010-05-30 16:19:11" "00006" "2010-05-31 16:31:40" "SEQ;SSCA" "DNA" "" "" "0000249177" "00248072" "1" "00000" "00006" "2010-05-30 16:19:11" "00006" "2010-05-31 16:33:49" "SEQ;SSCA" "DNA" "" "" "0000249178" "00248073" "1" "00000" "00006" "2010-05-31 16:45:22" "" "" "SEQ;SSCA" "DNA" "" "" "0000249179" "00248074" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249180" "00248075" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249181" "00248076" "1" "01941" "01941" "2010-05-27 05:24:19" "00006" "2010-06-17 17:43:54" "SSCA" "DNA" "" "" "0000249182" "00248077" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249183" "00248078" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249184" "00248079" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249185" "00248080" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249186" "00248081" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000249187" "00248082" "1" "00000" "00006" "2010-05-30 16:19:11" "" "" "SSCA;SEQ" "DNA" "" "" "0000266610" "00265486" "1" "03432" "03432" "2019-09-26 11:47:15" "" "" "SEQ" "DNA" "whole blood" "" "0000292852" "00291684" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292853" "00291685" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000419800" "00418505" "1" "00006" "00006" "2022-09-29 15:33:30" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "WES" "0000453252" "00451648" "1" "04221" "04221" "2024-06-20 21:08:50" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 94 "{{screeningid}}" "{{geneid}}" "0000249096" "CTNS" "0000249097" "CTNS" "0000249098" "CTNS" "0000249099" "CTNS" "0000249100" "CTNS" "0000249101" "CTNS" "0000249102" "CTNS" "0000249103" "CTNS" "0000249104" "CTNS" "0000249105" "CTNS" "0000249106" "CTNS" "0000249107" "CTNS" "0000249108" "CTNS" "0000249109" "CTNS" "0000249110" "CTNS" "0000249111" "CTNS" "0000249112" "CTNS" "0000249113" "CTNS" "0000249114" "CTNS" "0000249115" "CTNS" "0000249116" "CTNS" "0000249117" "CTNS" "0000249118" "CTNS" "0000249119" "CTNS" "0000249120" "CTNS" "0000249121" "CTNS" "0000249122" "CTNS" "0000249123" "CTNS" "0000249124" "CTNS" "0000249125" "CTNS" "0000249126" "CTNS" "0000249127" "CTNS" "0000249128" "CTNS" "0000249129" "CTNS" "0000249130" "CTNS" "0000249131" "CTNS" "0000249132" "CTNS" "0000249133" "CTNS" "0000249134" "CTNS" "0000249135" "CTNS" "0000249136" "CTNS" "0000249137" "CTNS" "0000249138" "CTNS" "0000249139" "CTNS" "0000249140" "CTNS" "0000249141" "CTNS" "0000249142" "CTNS" "0000249143" "CTNS" "0000249144" "CTNS" "0000249145" "CTNS" "0000249146" "CTNS" "0000249147" "CTNS" "0000249148" "CTNS" "0000249149" "CTNS" "0000249150" "CTNS" "0000249151" "CTNS" "0000249152" "CTNS" "0000249153" "CTNS" "0000249154" "CTNS" "0000249155" "CTNS" "0000249156" "CTNS" "0000249157" "CTNS" "0000249158" "CTNS" "0000249159" "CTNS" "0000249160" "CTNS" "0000249161" "CTNS" "0000249162" "CTNS" "0000249163" "CTNS" "0000249164" "CTNS" "0000249165" "CTNS" "0000249166" "CTNS" "0000249167" "CTNS" "0000249168" "CTNS" "0000249169" "CTNS" "0000249170" "CTNS" "0000249171" "CTNS" "0000249172" "CTNS" "0000249173" "CTNS" "0000249174" "CTNS" "0000249175" "CTNS" "0000249176" "CTNS" "0000249177" "CTNS" "0000249178" "CTNS" "0000249179" "CTNS" "0000249180" "CTNS" "0000249181" "CTNS" "0000249182" "CTNS" "0000249183" "CTNS" "0000249184" "CTNS" "0000249185" "CTNS" "0000249186" "CTNS" "0000249187" "CTNS" "0000266610" "CTNS" "0000453252" "CTNS" ## 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 = 156 "{{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}}" "0000013629" "3" "50" "17" "3551327" "3551327" "subst" "0" "00037" "CTNS_000050" "g.3551327T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.3648033T>C" "" "VUS" "" "0000249223" "0" "10" "17" "3553526" "3553526" "subst" "0" "02325" "CTNS_000052" "g.3553526A>G" "" "" "" "CTNS(NM_004937.3):c.225+1301A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3650232A>G" "" "benign" "" "0000267194" "0" "10" "17" "3559823" "3559823" "subst" "0.18379" "02325" "CTNS_000021" "g.3559823G>A" "" "" "" "CTNS(NM_004937.3):c.504G>A (p.T168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3656529G>A" "" "benign" "" "0000267195" "0" "10" "17" "3561396" "3561396" "subst" "0.926542" "02325" "CTNS_000051" "g.3561396C>T" "" "" "" "CTNS(NM_001031681.2):c.779C>T (p.T260I), CTNS(NM_004937.3):c.779C>T (p.T260I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3658102C>T" "" "benign" "" "0000270640" "0" "10" "17" "3561396" "3561396" "subst" "0.926542" "02326" "CTNS_000051" "g.3561396C>T" "" "" "" "CTNS(NM_001031681.2):c.779C>T (p.T260I), CTNS(NM_004937.3):c.779C>T (p.T260I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3658102C>T" "" "benign" "" "0000270641" "0" "10" "17" "3563284" "3563284" "subst" "0.0199997" "02326" "CTNS_000044" "g.3563284G>A" "" "" "" "CTNS(NM_004937.3):c.970+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3659990G>A" "" "benign" "" "0000337841" "0" "10" "17" "3539835" "3539835" "subst" "0" "02327" "CTNS_000045" "g.3539835T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3636541T>C" "" "benign" "" "0000337842" "0" "10" "17" "3539897" "3539897" "subst" "0" "02327" "CTNS_000046" "g.3539897C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3636603C>T" "" "benign" "" "0000337844" "0" "90" "17" "3561298" "3561298" "subst" "0" "02327" "CTNS_000049" "g.3561298G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3658004G>T" "" "pathogenic" "" "0000339905" "0" "10" "17" "3559823" "3559823" "subst" "0.18379" "02327" "CTNS_000021" "g.3559823G>A" "" "" "" "CTNS(NM_004937.3):c.504G>A (p.T168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3656529G>A" "" "benign" "" "0000340945" "0" "10" "17" "3559781" "3559781" "subst" "0.0180596" "02327" "CTNS_000048" "g.3559781T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3656487T>C" "" "benign" "" "0000349391" "0" "10" "17" "3561396" "3561396" "subst" "0.926542" "02327" "CTNS_000051" "g.3561396C>T" "" "" "" "CTNS(NM_001031681.2):c.779C>T (p.T260I), CTNS(NM_004937.3):c.779C>T (p.T260I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3658102C>T" "" "benign" "" "0000350534" "0" "10" "17" "3550800" "3550800" "subst" "0.00429361" "02327" "CTNS_000047" "g.3550800G>A" "" "" "" "CTNS(NM_004937.3):c.124G>A (p.V42I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3647506G>A" "" "benign" "" "0000502072" "21" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "65 Kb deletion" "RNA on Northern blot; deletion from haplotype analysis" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502073" "3" "95" "17" "0" "0" "" "0" "00000" "CTNS_000002" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "small deletion" "cell line; small deletion AA313583 present" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502074" "3" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "65 Kb deletion" "cell line" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502075" "3" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "65 Kb deletion" "cell line" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502076" "3" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "65 Kb deletion" "carries homozygous deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502077" "3" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "65 Kb deletion" "carries homozygous deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502078" "3" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "65 Kb deletion" "carries homozygous deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502079" "3" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "65 Kb deletion" "carries homozygous deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502080" "3" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "65 Kb deletion" "carries homozygous deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502081" "3" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "65 Kb deletion" "carries homozygous deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502082" "3" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "65 Kb deletion" "carries homozygous deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502083" "3" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "65 Kb deletion" "carries homozygous deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502084" "3" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "65 Kb deletion" "carries homozygous deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502085" "3" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "65 Kb deletion" "carries homozygous deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502086" "3" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "65 Kb deletion" "carries homozygous deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502087" "3" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "65 Kb deletion" "carries homozygous deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502088" "3" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "65 Kb deletion" "carries homozygous deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502089" "3" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "65 Kb deletion" "carries homozygous deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502090" "0" "95" "17" "0" "0" "" "0" "00000" "CTNS_000002" "g.?" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "small deletion" "cell line; small deletion AA313583 present" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502091" "2" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Town et al. 1998:09537412}, {OMIM606272:0002}" "" "65 Kb deletion" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502092" "2" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "" "{PMID:Town et al. 1998:09537412}, {OMIM606272:0002}" "" "65 Kb deletion" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502093" "3" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "23/70" "{PMID:Town et al. 1998:09537412}" "" "65 Kb deletion" "23/70 patients homozygous deletion; not in 200 control chromosomes" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502094" "1" "95" "17" "0" "0" "" "0" "00000" "CTNS_000001" "g.?" "14/70" "{PMID:Town et al. 1998:09537412}" "" "65 Kb deletion" "14/70 patients hemizygous deletion; not in 200 control chromosomes; unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502095" "3" "95" "17" "0" "0" "" "0" "01941" "CTNS_000001" "g.?" "" "{PMID:Alcantara-Ortigoza MA et al. 2008:18752449}" "" "57 Kb deletion" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502096" "1" "95" "17" "0" "0" "" "0" "01941" "CTNS_000001" "g.?" "" "" "" "57 Kb deletion" "unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502097" "1" "95" "17" "0" "0" "" "0" "01941" "CTNS_000001" "g.?" "" "" "" "57 Kb deletion" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502098" "21" "95" "17" "3543518" "3543521" "del" "0" "01941" "CTNS_000007" "g.3543518_3543521del" "" "{PMID:Alcántara-Ortigoza MA et al. 2008:18752449}" "" "357_360delGACT" "" "Germline" "" "" "0" "" "" "g.3640224_3640227del" "" "pathogenic" "" "0000502099" "3" "95" "17" "3543518" "3543521" "del" "0" "00000" "CTNS_000007" "g.3543518_3543521del" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "357delGACT" "" "Unknown" "" "" "0" "" "" "g.3640224_3640227del" "" "pathogenic" "" "0000502100" "3" "95" "17" "3543518" "3543521" "del" "0" "00000" "CTNS_000007" "g.3543518_3543521del" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "357delGACT" "could carry 65 Kb deletion; RNA on Northern blot" "Unknown" "" "" "0" "" "" "g.3640224_3640227del" "" "pathogenic" "" "0000502101" "3" "95" "17" "3543518" "3543521" "del" "0" "00000" "CTNS_000007" "g.3543518_3543521del" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "357delGACT" "could carry 65 Kb deletion" "Unknown" "" "" "0" "" "" "g.3640224_3640227del" "" "pathogenic" "" "0000502102" "1" "95" "17" "3543518" "3543521" "del" "0" "00000" "CTNS_000007" "g.3543518_3543521del" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "357delGACT" "" "Unknown" "" "" "0" "" "" "g.3640224_3640227del" "" "pathogenic" "" "0000502103" "1" "95" "17" "3543518" "3543521" "del" "0" "00000" "CTNS_000007" "g.3543518_3543521del" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "357delGACT" "unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.3640224_3640227del" "" "pathogenic" "" "0000502104" "3" "95" "17" "3543518" "3543521" "del" "0" "00000" "CTNS_000007" "g.3543518_3543521del" "" "{PMID:Town et al. 1998:09537412}, {OMIM606272:0004}" "" "357delGACT" "this chromosome might contain 65 Kb deletion" "Unknown" "" "" "0" "" "" "g.3640224_3640227del" "" "pathogenic" "" "0000502105" "3" "95" "17" "3543518" "3543521" "del" "0" "00000" "CTNS_000007" "g.3543518_3543521del" "" "{PMID:Town et al. 1998:09537412}, {OMIM606272:0004}" "" "357delGACT" "this chromosome might contain 65 Kb deletion" "Unknown" "" "" "0" "" "" "g.3640224_3640227del" "" "pathogenic" "" "0000502106" "3" "95" "17" "3543518" "3543521" "del" "0" "00000" "CTNS_000007" "g.3543518_3543521del" "" "{PMID:Town et al. 1998:09537412}, {OMIM606272:0004}" "" "357delGACT" "this chromosome might contain 65 Kb deletion" "Unknown" "" "" "0" "" "" "g.3640224_3640227del" "" "pathogenic" "" "0000502107" "3" "95" "17" "3543518" "3543521" "del" "0" "00000" "CTNS_000007" "g.3543518_3543521del" "" "{PMID:Town et al. 1998:09537412}, {OMIM606272:0004}" "" "357delGACT" "this chromosome might contain 65 Kb deletion" "Unknown" "" "" "0" "" "" "g.3640224_3640227del" "" "pathogenic" "" "0000502108" "21" "95" "17" "3543522" "3543523" "del" "0" "01941" "CTNS_000042" "g.3543522_3543523del" "" "" "" "22_23delAT" "" "Germline" "" "" "0" "" "" "g.3640228_3640229del" "" "pathogenic" "" "0000502109" "3" "95" "17" "3543536" "3543536" "del" "0" "00000" "CTNS_000037" "g.3543536del" "" "{PMID:Town et al. 1998:09537412}" "" "371/375delT" "this chromosome might contain 65 Kb deletion" "Unknown" "" "" "0" "" "" "g.3640242del" "" "pathogenic" "" "0000502110" "2" "95" "17" "3543540" "3543540" "del" "0" "01941" "CTNS_000003" "g.3543540del" "" "{PMID:Alcántara-Ortigoza MA et al. 2008:18752449}" "" "379delC" "compound heterozygous" "Germline" "" "" "0" "" "" "g.3640246del" "" "pathogenic" "" "0000502111" "1" "95" "17" "3543560" "3543561" "del" "0" "00000" "CTNS_000029" "g.3543560_3543561del" "" "{PMID:Town et al. 1998:09537412}, {OMIM606272:0002}" "" "397delTG" "shared haplotyoe other French family" "Unknown" "" "" "0" "" "" "g.3640266_3640267del" "" "pathogenic" "" "0000502112" "1" "95" "17" "3543560" "3543561" "del" "0" "00000" "CTNS_000029" "g.3543560_3543561del" "" "{PMID:Town et al. 1998:09537412}, {OMIM606272:0002}" "" "397delTG" "shared haplotyoe other French family" "Unknown" "" "" "0" "" "" "g.3640266_3640267del" "" "pathogenic" "" "0000502113" "11" "95" "17" "3543566" "3543566" "subst" "4.06088E-6" "01941" "CTNS_000006" "g.3543566G>A" "" "{PMID:Alcántara-Ortigoza MA et al. 2008:18752449}" "" "IVS3+5G>A, 400+5G>A" "novel mutation - first report" "Germline" "" "" "0" "" "" "g.3640272G>A" "" "pathogenic" "" "0000502114" "3" "95" "17" "3543566" "3543566" "subst" "4.06088E-6" "00000" "CTNS_000006" "g.3543566G>A" "" "{PMID:Macias-Vidal J et al., 2009:19863563}" "" "IVS3+5G>A, 400+5G>A" "" "Unknown" "" "" "0" "" "" "g.3640272G>A" "" "pathogenic" "" "0000502115" "2" "90" "17" "3550737" "3552226" "del" "0" "01941" "CTNS_000041" "g.(3543562_3550737)_(3552226_3558291)del" "" "" "" "62-?_225+?del" "" "Unknown" "" "" "0" "" "" "g.(3640268_3647443)_(3648932_3654997)del" "" "pathogenic" "" "0000502116" "3" "95" "17" "3550817" "3550817" "subst" "4.06415E-6" "00000" "CTNS_000038" "g.3550817G>T" "" "{PMID:Town et al. 1998:09537412}" "" "479+1G>T" "this chromosome might contain 65 Kb deletion" "Unknown" "" "" "0" "" "" "g.3647523G>T" "" "pathogenic" "" "0000502117" "21" "95" "17" "3552198" "3552218" "del" "2.03031E-5" "01941" "CTNS_000004" "g.3552198_3552218del" "" "{PMID:Alcántara-Ortigoza MA et al. 2008:18752449}" "" "537_557del21" "" "Germline" "" "" "0" "" "" "g.3648904_3648924del" "" "pathogenic" "" "0000502118" "3" "95" "17" "3552198" "3552218" "del" "2.03031E-5" "00000" "CTNS_000004" "g.3552198_3552218del" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "537del21" "could carry 65 Kb deletion; RNA on Northern blot" "Unknown" "" "" "0" "" "" "g.3648904_3648924del" "" "pathogenic" "" "0000502119" "3" "95" "17" "3552198" "3552218" "del" "2.03031E-5" "00000" "CTNS_000004" "g.3552198_3552218del" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "537del21" "could carry 65 Kb deletion; RNA on Northern blot" "Unknown" "" "" "0" "" "" "g.3648904_3648924del" "" "pathogenic" "" "0000502120" "3" "95" "17" "3552198" "3552218" "del" "2.03031E-5" "00000" "CTNS_000004" "g.3552198_3552218del" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "537del21" "could carry 65 Kb deletion; RNA on Northern blot" "Unknown" "" "" "0" "" "" "g.3648904_3648924del" "" "pathogenic" "" "0000502121" "0" "95" "17" "3552198" "3552218" "del" "2.03031E-5" "00000" "CTNS_000004" "g.3552198_3552218del" "" "Attard et al., 1999" "" "c.537_557del21" "heterozygous" "Unknown" "" "" "0" "" "" "g.3648904_3648924del" "" "pathogenic" "" "0000502122" "3" "95" "17" "3552206" "3552210" "del" "0" "00000" "CTNS_000025" "g.3552206_3552210del" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "545delTCCTT (I69R)" "cell line" "Unknown" "" "" "0" "" "" "g.3648912_3648916del" "" "pathogenic" "" "0000502123" "3" "95" "17" "3558349" "3558349" "subst" "0" "00000" "CTNS_000028" "g.3558349G>T" "" "{PMID:Town et al. 1998:09537412}, {OMIM606272:0001}" "" "" "related families" "Unknown" "" "" "0" "" "" "g.3655055G>T" "" "pathogenic" "" "0000502124" "3" "95" "17" "3558349" "3558349" "subst" "0" "00000" "CTNS_000028" "g.3558349G>T" "" "{PMID:Town et al. 1998:09537412}, {OMIM606272:0001}" "" "" "related families" "Unknown" "" "" "0" "" "" "g.3655055G>T" "" "pathogenic" "" "0000502125" "3" "95" "17" "3558380" "3558383" "del" "0" "00000" "CTNS_000031" "g.3558380_3558383del" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "651delTCAC (H105P)" "could carry 65 Kb deletion" "Unknown" "" "" "0" "" "" "g.3655086_3655089del" "" "pathogenic" "" "0000502126" "0" "15" "17" "3558510" "3558510" "subst" "0" "00000" "CTNS_000020" "g.3558510T>C" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "669-5T>C" "" "Unknown" "" "" "0" "" "" "g.3655216T>C" "" "benign" "" "0000502127" "3" "95" "17" "3558567" "3558567" "subst" "0" "00000" "CTNS_000027" "g.3558567C>T" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "721C>T" "" "Unknown" "" "" "0" "" "" "g.3655273C>T" "" "pathogenic" "" "0000502128" "3" "95" "17" "3558567" "3558567" "subst" "0" "00000" "CTNS_000027" "g.3558567C>T" "" "{PMID:Town et al. 1998:09537412}" "" "721C>T" "this chromosome might contain 65 Kb deletion" "Unknown" "" "" "0" "" "" "g.3655273C>T" "" "pathogenic" "" "0000502129" "3" "95" "17" "3558599" "3558599" "subst" "4.46661E-5" "00000" "CTNS_000019" "g.3558599G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "753G>A" "" "Unknown" "" "" "0" "" "" "g.3655305G>A" "" "pathogenic" "" "0000502130" "3" "95" "17" "3558599" "3558599" "subst" "4.46661E-5" "00000" "CTNS_000019" "g.3558599G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "753G>A" "" "Unknown" "" "" "0" "" "" "g.3655305G>A" "" "pathogenic" "" "0000502131" "3" "95" "17" "3558599" "3558599" "subst" "4.46661E-5" "00000" "CTNS_000019" "g.3558599G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "753G>A" "" "Unknown" "" "" "0" "" "" "g.3655305G>A" "" "pathogenic" "" "0000502132" "3" "95" "17" "3558599" "3558599" "subst" "4.46661E-5" "00000" "CTNS_000019" "g.3558599G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "753G>A" "" "Unknown" "" "" "0" "" "" "g.3655305G>A" "" "pathogenic" "" "0000502133" "3" "95" "17" "3558599" "3558599" "subst" "4.46661E-5" "00000" "CTNS_000019" "g.3558599G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "753G>A" "" "Unknown" "" "" "0" "" "" "g.3655305G>A" "" "pathogenic" "" "0000502134" "3" "95" "17" "3558599" "3558599" "subst" "4.46661E-5" "00000" "CTNS_000019" "g.3558599G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "753G>A" "" "Unknown" "" "" "0" "" "" "g.3655305G>A" "" "pathogenic" "" "0000502135" "3" "95" "17" "3558599" "3558599" "subst" "4.46661E-5" "00000" "CTNS_000019" "g.3558599G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "753G>A" "" "Unknown" "" "" "0" "" "" "g.3655305G>A" "" "pathogenic" "" "0000502136" "3" "95" "17" "3558599" "3558599" "subst" "4.46661E-5" "00000" "CTNS_000019" "g.3558599G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "753G>A" "" "Unknown" "" "" "0" "" "" "g.3655305G>A" "" "pathogenic" "" "0000502137" "3" "95" "17" "3558599" "3558599" "subst" "4.46661E-5" "00000" "CTNS_000019" "g.3558599G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "753G>A" "" "Unknown" "" "" "0" "" "" "g.3655305G>A" "" "pathogenic" "" "0000502138" "3" "95" "17" "3558599" "3558599" "subst" "4.46661E-5" "00000" "CTNS_000019" "g.3558599G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "753G>A" "" "Unknown" "" "" "0" "" "" "g.3655305G>A" "" "pathogenic" "" "0000502139" "3" "95" "17" "3558599" "3558599" "subst" "4.46661E-5" "00000" "CTNS_000019" "g.3558599G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "753G>A" "" "Unknown" "" "" "0" "" "" "g.3655305G>A" "" "pathogenic" "" "0000502140" "1" "95" "17" "3558599" "3558599" "subst" "4.46661E-5" "00000" "CTNS_000019" "g.3558599G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "753G>A" "unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.3655305G>A" "" "pathogenic" "" "0000502141" "1" "95" "17" "3558599" "3558599" "subst" "4.46661E-5" "00000" "CTNS_000019" "g.3558599G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "753G>A" "unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.3655305G>A" "" "pathogenic" "" "0000502142" "1" "95" "17" "3558599" "3558599" "subst" "4.46661E-5" "00000" "CTNS_000019" "g.3558599G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "753G>A" "unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.3655305G>A" "" "pathogenic" "" "0000502143" "3" "95" "17" "3558599" "3558599" "subst" "4.46661E-5" "00000" "CTNS_000019" "g.3558599G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "753G>A" "cell line" "Unknown" "" "" "0" "" "" "g.3655305G>A" "" "pathogenic" "" "0000502144" "3" "95" "17" "3558599" "3558599" "subst" "4.46661E-5" "00000" "CTNS_000019" "g.3558599G>A" "" "{PMID:Town et al. 1998:09537412}, {OMIM606272:0003}" "" "753G>A" "this chromosome might contain 65 Kb deletion" "Unknown" "" "" "0" "" "" "g.3655305G>A" "" "pathogenic" "" "0000502145" "3" "95" "17" "3558599" "3558599" "subst" "4.46661E-5" "00000" "CTNS_000019" "g.3558599G>A" "" "{PMID:Town et al. 1998:09537412}, {OMIM606272:0003}" "" "753G>A" "this chromosome might contain 65 Kb deletion" "Unknown" "" "" "0" "" "" "g.3655305G>A" "" "pathogenic" "" "0000502146" "0" "15" "17" "3559823" "3559823" "subst" "0.18379" "00000" "CTNS_000021" "g.3559823G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "843A>G" "" "Unknown" "" "" "0" "" "" "g.3656529G>A" "" "benign" "" "0000502147" "3" "95" "17" "3559825" "3559825" "subst" "0" "00000" "CTNS_000032" "g.3559825G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "845G>A" "could carry 65 Kb deletion; RNA on Northern blot" "Unknown" "" "" "0" "" "" "g.3656531G>A" "" "pathogenic" "" "0000502148" "3" "95" "17" "3559838" "3559839" "del" "0" "00000" "CTNS_000039" "g.3559838_3559839del" "" "{PMID:Town et al. 1998:09537412}" "" "857delAC" "this chromosome might contain 65 Kb deletion" "Unknown" "" "" "0" "" "" "g.3656544_3656545del" "" "pathogenic" "" "0000502149" "1" "95" "17" "3559863" "3559863" "subst" "4.06577E-6" "00000" "CTNS_000033" "g.3559863T>C" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "883T>C" "RNA on Northern blot" "Unknown" "" "" "0" "" "" "g.3656569T>C" "" "pathogenic" "" "0000502150" "3" "95" "17" "3559881" "3559881" "del" "0" "00000" "CTNS_000026" "g.3559881del" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "900delG" "could carry 65 Kb deletion" "Unknown" "" "" "0" "" "" "g.3656587del" "" "pathogenic" "" "0000502151" "3" "95" "17" "3559881" "3559881" "del" "0" "00000" "CTNS_000026" "g.3559881del" "" "{PMID:Town et al. 1998:09537412}" "" "900delG" "this chromosome might contain 65 Kb deletion" "Unknown" "" "" "0" "" "" "g.3656587del" "" "pathogenic" "" "0000502152" "3" "95" "17" "3559969" "3559969" "subst" "0" "00000" "CTNS_000036" "g.3559969G>C" "" "{PMID:Town et al. 1998:09537412}" "" "901-1G>C" "this chromosome might contain 65 Kb deletion" "Unknown" "" "" "0" "" "" "g.3656675G>C" "" "pathogenic" "" "0000502153" "3" "95" "17" "0" "0" "del" "0" "00000" "CTNS_000040" "g.?" "" "{PMID:Town et al. 1998:09537412}" "" "908delTTCTCCTCA" "this chromosome might contain 65 Kb deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000502154" "1" "95" "17" "3560021" "3560021" "subst" "8.12308E-6" "00000" "CTNS_000010" "g.3560021G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "952G>A" "" "Unknown" "" "" "0" "" "" "g.3656727G>A" "" "pathogenic" "" "0000502155" "3" "95" "17" "3560022" "3560023" "del" "0" "00000" "CTNS_000035" "g.3560022_3560023del" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "950delACG" "could carry 65 Kb deletion" "Unknown" "" "" "0" "" "" "g.3656728_3656729del" "" "pathogenic" "" "0000502156" "3" "95" "17" "3560054" "3560054" "dup" "0" "01941" "CTNS_000008" "g.3560054dup" "" "{PMID:Alcántara-Ortigoza MA et al. 2008:18752449}" "" "646_647insA" "" "Unknown" "" "" "0" "" "" "g.3656760dup" "" "pathogenic" "" "0000502157" "3" "95" "17" "3560054" "3560054" "dup" "0" "00000" "CTNS_000008" "g.3560054dup" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "985insA (T216N)" "could carry 65 Kb deletion" "Unknown" "" "" "0" "" "" "g.3656760dup" "" "pathogenic" "" "0000502158" "1" "75" "17" "3560055" "3560055" "subst" "0" "01941" "CTNS_000009" "g.3560055C>G" "" "{PMID:Alcántara-Ortigoza MA et al. 2008:18752449}" "" "986C>G" "compound heterozygous" "Germline" "" "" "0" "" "" "g.3656761C>G" "" "likely pathogenic" "" "0000502159" "0" "15" "17" "3560098" "3560098" "subst" "0" "00000" "CTNS_000022" "g.3560098A>G" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "1020+9A>G" "" "Unknown" "" "" "0" "" "" "g.3656804A>G" "" "benign" "" "0000502160" "1" "95" "17" "3561313" "3561313" "dup" "0" "00000" "CTNS_000012" "g.3561313dup" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "1035insC (V233R)" "RNA on Northern blot" "Unknown" "" "" "0" "" "" "g.3658019dup" "" "pathogenic" "" "0000502161" "1" "95" "17" "3561313" "3561313" "dup" "0" "00000" "CTNS_000012" "g.3561313dup" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "1035insC (V233R)" "unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.3658019dup" "" "pathogenic" "" "0000502162" "2" "95" "17" "3561313" "3561314" "dup" "0" "00000" "CTNS_000030" "g.3561313_3561314dup" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "1033insCG" "" "Unknown" "" "" "0" "" "" "g.3658019_3658020dup" "" "pathogenic" "" "0000502163" "1" "95" "17" "3561358" "3561358" "del" "0" "00000" "CTNS_000016" "g.3561358del" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "1080delC (F247L)" "RNA on Northern blot; unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.3658064del" "" "pathogenic" "" "0000502164" "11" "95" "17" "3561368" "3561371" "delins" "0" "01941" "CTNS_000005" "g.3561368_3561371delinsCG" "" "{PMID:Alcantara-Ortigoza MA et al. 2008:18752449}" "" "1090_1093delACCAinsC" "novel indel mutation in the CTNS gene - first report" "Germline" "" "" "0" "" "" "g.3658074_3658077delinsCG" "" "pathogenic" "" "0000502165" "3" "95" "17" "3563169" "3563169" "subst" "0" "00000" "CTNS_000014" "g.3563169C>G" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "1209C>G" "" "Unknown" "" "" "0" "" "" "g.3659875C>G" "" "pathogenic" "" "0000502166" "0" "15" "17" "3563174" "3563174" "subst" "0" "00000" "CTNS_000023" "g.3563174A>G" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "1214A>G" "" "Unknown" "" "" "0" "" "" "g.3659880A>G" "" "benign" "" "0000502167" "2" "95" "17" "3563192" "3563192" "subst" "4.06445E-6" "00000" "CTNS_000011" "g.3563192G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "1232G>A" "" "Unknown" "" "" "0" "" "" "g.3659898G>A" "" "pathogenic" "" "0000502168" "1" "95" "17" "3563213" "3563213" "subst" "0" "00000" "CTNS_000017" "g.3563213A>G" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "1253A>G" "RNA on Northern blot; unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.3659919A>G" "" "pathogenic" "" "0000502169" "1" "95" "17" "3563221" "3563221" "subst" "4.06415E-6" "00000" "CTNS_000015" "g.3563221G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "1261G>A" "RNA on Northern blot" "Unknown" "" "" "0" "" "" "g.3659927G>A" "" "pathogenic" "" "0000502170" "1" "95" "17" "3563221" "3563221" "subst" "4.06415E-6" "00000" "CTNS_000015" "g.3563221G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "1261G>A" "unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.3659927G>A" "" "pathogenic" "" "0000502171" "2" "95" "17" "3563225" "3563225" "dup" "0" "00000" "CTNS_000013" "g.3563225dup" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "1261insG (S310Q)" "RNA on Northern blot" "Unknown" "" "" "0" "" "" "g.3659931dup" "" "pathogenic" "" "0000502172" "0" "15" "17" "3563259" "3563259" "subst" "0" "00000" "CTNS_000024" "g.3563259C>T" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "1299C>T" "" "Unknown" "" "" "0" "" "" "g.3659965C>T" "" "benign" "" "0000502173" "1" "95" "17" "3563574" "3563574" "subst" "2.43821E-5" "00000" "CTNS_000018" "g.3563574G>A" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "1354G>A" "unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.3660280G>A" "" "pathogenic" "" "0000502174" "2" "95" "17" "3563587" "3563594" "delins" "0" "00000" "CTNS_000034" "g.3563587_3563594delinsA" "" "{PMID:Shotelersuk et al. 1998:09792862}" "" "1367TCGTCTTC>A (I343K)" "RNA on Northern blot" "Unknown" "" "" "0" "" "" "g.3660293_3660300delinsA" "" "pathogenic" "" "0000502175" "11" "75" "17" "3563596" "3563607" "del" "0" "01941" "CTNS_000043" "g.3563596_3563607del" "" "" "" "1029_1040del12 / (Asp346_Phe349del)" "affects the 7th TM domain of cystinosin" "Germline" "" "" "0" "" "" "g.3660302_3660313del" "" "likely pathogenic" "" "0000561093" "0" "30" "17" "3550740" "3550740" "subst" "0" "01804" "CTNS_000053" "g.3550740T>A" "" "" "" "CTNS(NM_001031681.2):c.64T>A (p.(Ser22Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3647446T>A" "" "likely benign" "" "0000561094" "0" "10" "17" "3550800" "3550800" "subst" "0.00429361" "02326" "CTNS_000047" "g.3550800G>A" "" "" "" "CTNS(NM_004937.3):c.124G>A (p.V42I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3647506G>A" "" "benign" "" "0000561097" "0" "10" "17" "3558541" "3558541" "subst" "0.00299263" "02326" "CTNS_000054" "g.3558541G>A" "" "" "" "CTNS(NM_004937.3):c.356G>A (p.R119H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3655247G>A" "" "benign" "" "0000561100" "0" "90" "17" "3560089" "3560089" "subst" "0" "02327" "CTNS_000056" "g.3560089G>A" "" "" "" "CTNS(NM_004937.3):c.681G>A (p.(Glu227=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3656795G>A" "" "pathogenic" "" "0000561101" "0" "90" "17" "3563574" "3563574" "subst" "2.43821E-5" "02327" "CTNS_000018" "g.3563574G>A" "" "" "" "CTNS(NM_004937.3):c.1015G>A (p.G339R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3660280G>A" "" "pathogenic" "" "0000561102" "0" "30" "17" "3563598" "3563598" "subst" "8.12262E-6" "01804" "CTNS_000057" "g.3563598G>A" "" "" "" "CTNS(NM_001031681.2):c.1039G>A (p.(Val347Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3660304G>A" "" "likely benign" "" "0000561109" "0" "30" "17" "3594990" "3594990" "subst" "0.000572677" "01804" "CTNS_000060" "g.3594990G>A" "" "" "" "P2RX5(NM_001204519.1):c.236C>T (p.(Ser79Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3691696G>A" "" "likely benign" "" "0000597339" "3" "90" "17" "3545967" "3555253" "del" "0" "03432" "CTNS_000061" "g.3545967_3555253del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.3642673_3651959del" "" "pathogenic (recessive)" "" "0000649541" "1" "90" "17" "3543518" "3543521" "del" "0" "03575" "CTNS_000007" "g.3543518_3543521del" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs786204501}" "Germline" "" "rs786204501" "0" "" "" "g.3640224_3640227del" "" "pathogenic" "" "0000649542" "1" "70" "17" "3559997" "3559997" "subst" "5.68597E-5" "03575" "CTNS_000062" "g.3559997G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs113994207}" "Germline" "" "rs113994207" "0" "" "" "g.3656703G>A" "" "likely pathogenic" "" "0000658089" "0" "70" "17" "3561426" "3561426" "subst" "0" "02327" "CTNS_000063" "g.3561426C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3658132C>T" "" "likely pathogenic" "" "0000680830" "0" "50" "17" "3550792" "3550792" "subst" "0.00162873" "01943" "CTNS_000064" "g.3550792C>T" "" "" "" "CTNS(NM_004937.2):c.116C>T (p.S39L), CTNS(NM_004937.3):c.116C>T (p.S39L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692318" "0" "30" "17" "3550792" "3550792" "subst" "0.00162873" "02326" "CTNS_000064" "g.3550792C>T" "" "" "" "CTNS(NM_004937.2):c.116C>T (p.S39L), CTNS(NM_004937.3):c.116C>T (p.S39L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692320" "0" "50" "17" "3563595" "3563595" "subst" "1.21849E-5" "01943" "CTNS_000065" "g.3563595G>A" "" "" "" "CTNS(NM_004937.2):c.1036G>A (p.D346N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807916" "0" "30" "17" "3561448" "3561448" "subst" "0" "01943" "CTNS_000066" "g.3561448G>A" "" "" "" "CTNS(NM_004937.2):c.831G>A (p.T277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865160" "0" "30" "17" "3560023" "3560023" "subst" "8.12269E-6" "02325" "CTNS_000067" "g.3560023C>T" "" "" "" "CTNS(NM_004937.3):c.615C>T (p.D205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000879967" "0" "70" "17" "3550821" "3550821" "subst" "0" "00006" "CTNS_000068" "g.3550821G>T" "" "{PMID:He 2022:35121647}" "" "" "ACMG PM2, PP4, PS3" "Germline/De novo (untested)" "" "" "0" "" "" "g.3647527G>T" "" "likely pathogenic" "ACMG" "0000893484" "0" "30" "17" "3558281" "3558281" "subst" "8.5273E-5" "02326" "CTNS_000069" "g.3558281C>T" "" "" "" "CTNS(NM_004937.3):c.226-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893485" "0" "30" "17" "3558656" "3558656" "del" "0.00102749" "02326" "CTNS_000070" "g.3558656del" "" "" "" "CTNS(NM_004937.3):c.461+10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893486" "0" "30" "17" "3561451" "3561451" "subst" "0.000191023" "02326" "CTNS_000071" "g.3561451G>A" "" "" "" "CTNS(NM_004937.3):c.834G>A (p.L278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914789" "0" "70" "17" "3552198" "3552218" "del" "2.03031E-5" "02327" "CTNS_000004" "g.3552198_3552218del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914790" "0" "90" "17" "3558567" "3558567" "subst" "0" "02327" "CTNS_000027" "g.3558567C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926453" "0" "90" "17" "3561470" "3561470" "subst" "0" "02326" "CTNS_000072" "g.3561470G>A" "" "" "" "CTNS(NM_004937.3):c.852+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930737" "0" "30" "17" "3563137" "3563137" "subst" "0.000517202" "02326" "CTNS_000073" "g.3563137G>A" "" "" "" "CTNS(NM_004937.3):c.853-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950844" "0" "90" "17" "3563574" "3563574" "subst" "2.43821E-5" "02326" "CTNS_000018" "g.3563574G>A" "" "" "" "CTNS(NM_004937.3):c.1015G>A (p.G339R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000968821" "0" "30" "17" "3558629" "3558629" "subst" "0.000243637" "02326" "CTNS_000074" "g.3558629G>A" "" "" "" "CTNS(NM_001374493.1):c.3G>A (p.(Met1?)), CTNS(NM_004937.3):c.444G>A (p.M148I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968822" "0" "30" "17" "3561334" "3561334" "subst" "0" "02326" "CTNS_000075" "g.3561334C>T" "" "" "" "CTNS(NM_004937.3):c.717C>T (p.G239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968823" "0" "30" "17" "3561347" "3561347" "subst" "0.000130129" "02326" "CTNS_000076" "g.3561347G>A" "" "" "" "CTNS(NM_004937.3):c.730G>A (p.A244T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982444" "0" "50" "17" "3563158" "3563158" "subst" "1.62655E-5" "01804" "CTNS_000077" "g.3563158A>G" "" "" "" "CTNS(NM_004937.3):c.859A>G (p.(Met287Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982445" "0" "50" "17" "3563556" "3563556" "subst" "0" "01804" "CTNS_000078" "g.3563556C>A" "" "" "" "CTNS(NM_004937.3):c.997C>A (p.(Pro333Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982446" "0" "90" "17" "3563574" "3563574" "subst" "2.43821E-5" "02329" "CTNS_000018" "g.3563574G>A" "" "" "" "CTNS(NM_004937.3):c.1015G>A (p.G339R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000987802" "21" "70" "17" "3543522" "3543523" "del" "0" "04221" "CTNS_000042" "g.3543522_3543523del" "" "" "" "" "This variant that is responsible of \'Cystinosis, nephropathic\', was identified in co-occurrence with the COL4A5 heterozygous pathogenic variant NM_033380.3:c.3088G>A, p.Gly1030Ser, causing Alport syndrome 1. This variant was confirmed by Sanger sequencing in patient and tested in parents (maternal confirmed)" "Germline" "yes" "rs758995279" "0" "" "" "g.3640228_3640229del" "" "likely pathogenic (recessive)" "ACMG" "0000987803" "11" "70" "17" "3563595" "3563606" "del" "0" "04221" "CTNS_000079" "g.3563595_3563606del" "" "" "" "" "Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020). This variant that is responsible of \'Cystinosis, nephropathic\', was identified in co-occurrence with the COL4A5 heterozygous pathogenic variant NM_033380.3:c.3088G>A, p.Gly1030Ser, causing Alport syndrome 1. This variant was confirmed by Sanger sequencing in patient and tested in parents (paternal confirmed)" "Germline" "yes" "rs771552404" "0" "" "" "g.3660301_3660312del" "" "likely pathogenic (recessive)" "ACMG" "0001041777" "0" "50" "17" "3552188" "3552188" "subst" "2.84245E-5" "01804" "CTNS_000080" "g.3552188G>A" "" "" "" "CTNS(NM_004937.3):c.188G>A (p.(Arg63His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041778" "0" "50" "17" "3558629" "3558629" "subst" "0.000243637" "01804" "CTNS_000074" "g.3558629G>A" "" "" "" "CTNS(NM_001374493.1):c.3G>A (p.(Met1?)), CTNS(NM_004937.3):c.444G>A (p.M148I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041779" "0" "90" "17" "3560089" "3560089" "subst" "0" "01804" "CTNS_000056" "g.3560089G>A" "" "" "" "CTNS(NM_004937.3):c.681G>A (p.(Glu227=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001041780" "0" "50" "17" "3563269" "3563269" "subst" "0.000626505" "01804" "CTNS_000081" "g.3563269G>A" "" "" "" "CTNS(NM_004937.3):c.970G>A (p.(Asp324Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041781" "0" "50" "17" "3563976" "3563976" "subst" "6.50137E-5" "01804" "CTNS_000082" "g.3563976C>T" "" "" "" "CTNS(NM_001031681.3):c.1151C>T (p.(Pro384Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041782" "0" "50" "17" "3591400" "3591400" "subst" "0" "01804" "CTNS_000083" "g.3591400C>G" "" "" "" "P2RX5(NM_002561.4):c.888-1G>C" "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 CTNS ## Count = 206 "{{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}}" "0000013629" "00025446" "00" "140" "511" "140" "511" "c.140+511T>C" "r.(=)" "p.(=)" "" "0000013629" "00001475" "50" "140" "511" "140" "511" "c.140+511T>C" "r.(=)" "p.(=)" "" "0000249223" "00025446" "10" "225" "1301" "225" "1301" "c.225+1301A>G" "r.(=)" "p.(=)" "" "0000249223" "00001475" "10" "225" "1301" "225" "1301" "c.225+1301A>G" "r.(=)" "p.(=)" "" "0000267194" "00025446" "10" "504" "0" "504" "0" "c.504G>A" "r.(?)" "p.(Thr168=)" "" "0000267194" "00001475" "10" "504" "0" "504" "0" "c.504G>A" "r.(?)" "p.(Thr168=)" "" "0000267195" "00025446" "10" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Thr260Ile)" "" "0000267195" "00001475" "10" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Thr260Ile)" "" "0000270640" "00025446" "10" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Thr260Ile)" "" "0000270640" "00001475" "10" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Thr260Ile)" "" "0000270641" "00025446" "10" "970" "15" "970" "15" "c.970+15G>A" "r.(=)" "p.(=)" "" "0000270641" "00001475" "10" "970" "15" "970" "15" "c.970+15G>A" "r.(=)" "p.(=)" "" "0000337841" "00025446" "10" "-397" "0" "-397" "0" "c.-397T>C" "r.(?)" "p.(=)" "" "0000337841" "00001475" "10" "-520" "0" "-520" "0" "c.-520T>C" "r.(?)" "p.(=)" "" "0000337842" "00025446" "10" "-335" "0" "-335" "0" "c.-335C>T" "r.(?)" "p.(=)" "" "0000337842" "00001475" "10" "-458" "0" "-458" "0" "c.-458C>T" "r.(?)" "p.(=)" "" "0000337844" "00025446" "90" "682" "-1" "682" "-1" "c.682-1G>T" "r.spl?" "p.?" "" "0000337844" "00001475" "90" "682" "-1" "682" "-1" "c.682-1G>T" "r.spl?" "p.?" "" "0000339905" "00025446" "10" "504" "0" "504" "0" "c.504G>A" "r.(?)" "p.(Thr168=)" "" "0000339905" "00001475" "10" "504" "0" "504" "0" "c.504G>A" "r.(?)" "p.(Thr168=)" "" "0000340945" "00025446" "10" "462" "0" "462" "0" "c.462T>C" "r.(?)" "p.(Ser154=)" "" "0000340945" "00001475" "10" "462" "0" "462" "0" "c.462T>C" "r.(?)" "p.(Ser154=)" "" "0000349391" "00025446" "10" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Thr260Ile)" "" "0000349391" "00001475" "10" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Thr260Ile)" "" "0000350534" "00025446" "10" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Val42Ile)" "" "0000350534" "00001475" "10" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Val42Ile)" "" "0000502072" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502073" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502074" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502075" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502076" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502077" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502078" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502079" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502080" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502081" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502082" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502083" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502084" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502085" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502086" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502087" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502088" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502089" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502090" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502091" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502092" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502093" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502094" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.(0)" "p.0" "1_10" "0000502095" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.0" "p.0" "1_10" "0000502096" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.0" "p.0" "1_10" "0000502097" "00025446" "95" "-8388608" "0" "62" "0" "c.?_(62_853)del" "r.0" "p.0" "1_10" "0000502098" "00025446" "95" "18" "0" "21" "0" "c.18_21del" "r.(?)" "p.(Thr7Phefs*7)" "3" "0000502099" "00025446" "95" "18" "0" "21" "0" "c.18_21del" "r.(?)" "p.(Thr7Phefs*7)" "3" "0000502100" "00025446" "95" "18" "0" "21" "0" "c.18_21del" "r.(?)" "p.(Thr7Phefs*7)" "3" "0000502101" "00025446" "95" "18" "0" "21" "0" "c.18_21del" "r.(?)" "p.(Thr7Phefs*7)" "3" "0000502102" "00025446" "95" "18" "0" "21" "0" "c.18_21del" "r.(?)" "p.(Thr7Phefs*7)" "3" "0000502103" "00025446" "95" "18" "0" "21" "0" "c.18_21del" "r.(?)" "p.(Thr7Phefs*7)" "3" "0000502104" "00025446" "95" "18" "0" "21" "0" "c.18_21del" "r.(?)" "p.(Thr7Phefs*7)" "3" "0000502105" "00025446" "95" "18" "0" "21" "0" "c.18_21del" "r.(?)" "p.(Thr7Phefs*7)" "3" "0000502106" "00025446" "95" "18" "0" "21" "0" "c.18_21del" "r.(?)" "p.(Thr7Phefs*7)" "3" "0000502107" "00025446" "95" "18" "0" "21" "0" "c.18_21del" "r.(?)" "p.(Thr7Phefs*7)" "3" "0000502108" "00025446" "95" "22" "0" "23" "0" "c.22_23del" "r.(?)" "p.(Ile8Phefs*13)" "3" "0000502109" "00025446" "95" "36" "0" "36" "0" "c.36del" "r.(?)" "p.(Leu14*)" "3" "0000502110" "00025446" "95" "40" "0" "40" "0" "c.40del" "r.(?)" "p.(Leu14*)" "3" "0000502111" "00025446" "95" "60" "0" "61" "0" "c.60_61del" "r.(spl?)" "p.(Cys20*)" "3" "0000502112" "00025446" "95" "60" "0" "61" "0" "c.60_61del" "r.(spl?)" "p.(Cys20*)" "3" "0000502113" "00025446" "95" "61" "5" "61" "5" "c.61+5G>A" "r.-21_61del" "p.0?" "3i" "0000502114" "00025446" "95" "61" "5" "61" "5" "c.61+5G>A" "r.spl?" "p.0?" "3i" "0000502115" "00025446" "90" "62" "-1" "225" "1" "c.(61+1_62-1)_(225+1_226-1)del" "r.62_225del" "p.(Glu21Glyfs*49)" "3i" "0000502116" "00025446" "95" "140" "1" "140" "1" "c.140+1G>T" "r.spl?" "p.?" "4i" "0000502117" "00025446" "95" "198" "0" "218" "0" "c.198_218del" "r.(?)" "p.(Ile67_Pro73del)" "5" "0000502118" "00025446" "95" "198" "0" "218" "0" "c.198_218del" "r.(?)" "p.(Ile67_Pro73del)" "5" "0000502119" "00025446" "95" "198" "0" "218" "0" "c.198_218del" "r.(?)" "p.(Ile67_Pro73del)" "5" "0000502120" "00025446" "95" "198" "0" "218" "0" "c.198_218del" "r.(?)" "p.(Ile67_Pro73del)" "5" "0000502121" "00025446" "95" "198" "0" "218" "0" "c.198_218del" "r.(?)" "p.(Ile67_Pro73del)" "5" "0000502122" "00025446" "95" "206" "0" "210" "0" "c.206_210del" "r.(?)" "p.(Ile69Argfs*5)" "5" "0000502123" "00025446" "95" "283" "0" "283" "0" "c.283G>T" "r.(?)" "p.(Gly95*)" "6" "0000502124" "00025446" "95" "283" "0" "283" "0" "c.283G>T" "r.(?)" "p.(Gly95*)" "6" "0000502125" "00025446" "95" "314" "0" "317" "0" "c.314_317del" "r.(?)" "p.(His105Profs*12)" "6" "0000502126" "00025446" "15" "330" "-5" "330" "-5" "c.330-5T>C" "r.(=)" "p.(=)" "6i" "0000502127" "00025446" "95" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Gln128*)" "7" "0000502128" "00025446" "95" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Gln128*)" "7" "0000502129" "00025446" "95" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Trp138*)" "7" "0000502130" "00025446" "95" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Trp138*)" "7" "0000502131" "00025446" "95" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Trp138*)" "7" "0000502132" "00025446" "95" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Trp138*)" "7" "0000502133" "00025446" "95" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Trp138*)" "7" "0000502134" "00025446" "95" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Trp138*)" "7" "0000502135" "00025446" "95" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Trp138*)" "7" "0000502136" "00025446" "95" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Trp138*)" "7" "0000502137" "00025446" "95" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Trp138*)" "7" "0000502138" "00025446" "95" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Trp138*)" "7" "0000502139" "00025446" "95" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Trp138*)" "7" "0000502140" "00025446" "95" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Trp138*)" "7" "0000502141" "00025446" "95" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Trp138*)" "7" "0000502142" "00025446" "95" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Trp138*)" "7" "0000502143" "00025446" "95" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Trp138*)" "7" "0000502144" "00025446" "95" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Trp138*)" "7" "0000502145" "00025446" "95" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Trp138*)" "7" "0000502146" "00025446" "15" "504" "0" "504" "0" "c.504G>A" "r.(?)" "p.(=)" "8" "0000502147" "00025446" "95" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Gly169Asp)" "8" "0000502148" "00025446" "95" "519" "0" "520" "0" "c.519_520del" "r.(?)" "p.(Tyr173*)" "8" "0000502149" "00025446" "95" "544" "0" "544" "0" "c.544T>C" "r.(?)" "p.(Trp182Arg)" "8" "0000502150" "00025446" "95" "561" "1" "561" "1" "c.561+1del" "r.(spl?)" "p.(=)" "8i" "0000502151" "00025446" "95" "561" "1" "561" "1" "c.561+1del" "r.(spl?)" "p.(=)" "8i" "0000502152" "00025446" "95" "562" "-1" "562" "-1" "c.562-1G>C" "r.spl?" "p.(=)" "8i" "0000502153" "00025446" "95" "569" "0" "577" "0" "c.569_577del" "r.(?)" "p.(Phe190*)" "9" "0000502154" "00025446" "95" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Asp205Asn)" "9" "0000502155" "00025446" "95" "614" "0" "615" "0" "c.614_615del" "r.(?)" "p.(Asp205Glyfs*22)" "9" "0000502156" "00025446" "95" "646" "0" "646" "0" "c.646dup" "r.(?)" "p.(Thr216Asnfs*12)" "9" "0000502157" "00025446" "95" "646" "0" "646" "0" "c.646dup" "r.(?)" "p.(Thr216Asnfs*12)" "9" "0000502158" "00025446" "75" "647" "0" "647" "0" "c.647C>G" "r.(?)" "p.(Thr216Arg)" "9" "0000502159" "00025446" "15" "681" "9" "681" "9" "c.681+9A>G" "r.(=)" "p.(=)" "9i" "0000502160" "00025446" "95" "696" "0" "696" "0" "c.696dup" "r.(?)" "p.(Val233Argfs*63)" "10" "0000502161" "00025446" "95" "696" "0" "696" "0" "c.696dup" "r.(?)" "p.(Val233Argfs*63)" "10" "0000502162" "00025446" "95" "696" "0" "697" "0" "c.696_697dup" "r.(?)" "p.(Val233Alafs*21)" "10" "0000502163" "00025446" "95" "741" "0" "741" "0" "c.741del" "r.(?)" "p.(Phe247Leufs*6)" "10" "0000502164" "00025446" "95" "751" "0" "754" "0" "c.751_754delinsCG" "r.(?)" "p.(Thr251Argfs*44)" "10" "0000502165" "00025446" "95" "870" "0" "870" "0" "c.870C>G" "r.(?)" "p.(Tyr290*)" "11" "0000502166" "00025446" "15" "875" "0" "875" "0" "c.875A>G" "r.(?)" "p.(Lys292Arg)" "11" "0000502167" "00025446" "95" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Ser298Asn)" "11" "0000502168" "00025446" "95" "914" "0" "914" "0" "c.914A>G" "r.(?)" "p.(Asp305Gly)" "11" "0000502169" "00025446" "95" "922" "0" "922" "0" "c.922G>A" "r.(?)" "p.(Gly308Arg)" "11" "0000502170" "00025446" "95" "922" "0" "922" "0" "c.922G>A" "r.(?)" "p.(Gly308Arg)" "11" "0000502171" "00025446" "95" "926" "0" "926" "0" "c.926dup" "r.(?)" "p.(Ser310Glnfs*120)" "11" "0000502172" "00025446" "15" "960" "0" "960" "0" "c.960C>T" "r.(?)" "p.(=)" "11" "0000502173" "00025446" "95" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Gly339Arg)" "12" "0000502174" "00025446" "95" "1028" "0" "1035" "0" "c.1028_1035delinsA" "r.(?)" "p.(Ile343Lysfs*54)" "12" "0000502175" "00025446" "75" "1037" "0" "1048" "0" "c.1037_1048del" "r.(?)" "p.(Asp346_Phe350delinsVal)" "12" "0000561093" "00025446" "30" "64" "0" "64" "0" "c.64T>A" "r.(?)" "p.(Ser22Thr)" "" "0000561093" "00001475" "30" "64" "0" "64" "0" "c.64T>A" "r.(?)" "p.(Ser22Thr)" "" "0000561094" "00025446" "10" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Val42Ile)" "" "0000561094" "00001475" "10" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Val42Ile)" "" "0000561097" "00025446" "10" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119His)" "" "0000561097" "00001475" "10" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119His)" "" "0000561100" "00025446" "90" "681" "0" "681" "0" "c.681G>A" "r.(?)" "p.(Glu227=)" "" "0000561100" "00001475" "90" "681" "0" "681" "0" "c.681G>A" "r.(?)" "p.(Glu227=)" "" "0000561101" "00025446" "90" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Gly339Arg)" "" "0000561101" "00001475" "90" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Gly339Arg)" "" "0000561102" "00025446" "30" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Val347Ile)" "" "0000561102" "00001475" "30" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Val347Ile)" "" "0000561109" "00025446" "30" "32165" "0" "32165" "0" "c.*30962G>A" "r.(=)" "p.(=)" "" "0000561109" "00001475" "30" "32431" "0" "32431" "0" "c.*31327G>A" "r.(=)" "p.(=)" "" "0000597339" "00001475" "90" "61" "2406" "225" "3028" "c.61+2406_225+3028del" "r.(?)" "p.(Glu21Glyfs*49)" "" "0000649541" "00025446" "90" "18" "0" "21" "0" "c.18_21del" "r.(?)" "p.(Thr7Phefs*7)" "" "0000649541" "00001475" "90" "18" "0" "21" "0" "c.18_21del" "r.(?)" "p.(Thr7Phefs*7)" "" "0000649542" "00025446" "70" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Gly197Arg)" "" "0000649542" "00001475" "70" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Gly197Arg)" "" "0000658089" "00025446" "70" "809" "0" "809" "0" "c.809C>T" "r.(?)" "p.(Ser270Phe)" "" "0000658089" "00001475" "70" "809" "0" "809" "0" "c.809C>T" "r.(?)" "p.(Ser270Phe)" "" "0000680830" "00025446" "50" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ser39Leu)" "" "0000680830" "00001475" "50" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ser39Leu)" "" "0000692318" "00025446" "30" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ser39Leu)" "" "0000692318" "00001475" "30" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ser39Leu)" "" "0000692320" "00025446" "50" "1036" "0" "1036" "0" "c.1036G>A" "r.(?)" "p.(Asp346Asn)" "" "0000692320" "00001475" "50" "1036" "0" "1036" "0" "c.1036G>A" "r.(?)" "p.(Asp346Asn)" "" "0000807916" "00025446" "30" "831" "0" "831" "0" "c.831G>A" "r.(?)" "p.(Thr277=)" "" "0000807916" "00001475" "30" "831" "0" "831" "0" "c.831G>A" "r.(?)" "p.(Thr277=)" "" "0000865160" "00025446" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Asp205=)" "" "0000865160" "00001475" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Asp205=)" "" "0000879967" "00001475" "70" "140" "5" "140" "5" "c.140+5G>T" "r.[62_225del,-19_225del,62_140del,-19_61del]" "p.[Glu21Glyfs*48,M1?,Glu21Glyfs*3]" "" "0000893484" "00025446" "30" "226" "-11" "226" "-11" "c.226-11C>T" "r.(=)" "p.(=)" "" "0000893484" "00001475" "30" "226" "-11" "226" "-11" "c.226-11C>T" "r.(=)" "p.(=)" "" "0000893485" "00025446" "30" "461" "10" "461" "10" "c.461+10del" "r.(=)" "p.(=)" "" "0000893485" "00001475" "30" "461" "10" "461" "10" "c.461+10del" "r.(=)" "p.(=)" "" "0000893486" "00025446" "30" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Leu278=)" "" "0000893486" "00001475" "30" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Leu278=)" "" "0000914789" "00025446" "70" "198" "0" "218" "0" "c.198_218del" "r.(?)" "p.(Ile67_Pro73del)" "" "0000914789" "00001475" "70" "198" "0" "218" "0" "c.198_218del" "r.(?)" "p.(Ile67_Pro73del)" "" "0000914790" "00025446" "90" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Gln128*)" "" "0000914790" "00001475" "90" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Gln128*)" "" "0000926453" "00025446" "90" "852" "1" "852" "1" "c.852+1G>A" "r.spl?" "p.?" "" "0000926453" "00001475" "90" "852" "1" "852" "1" "c.852+1G>A" "r.spl?" "p.?" "" "0000930737" "00025446" "30" "853" "-15" "853" "-15" "c.853-15G>A" "r.(=)" "p.(=)" "" "0000930737" "00001475" "30" "853" "-15" "853" "-15" "c.853-15G>A" "r.(=)" "p.(=)" "" "0000950844" "00025446" "90" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Gly339Arg)" "" "0000950844" "00001475" "90" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Gly339Arg)" "" "0000968821" "00025446" "30" "444" "0" "444" "0" "c.444G>A" "r.(?)" "p.(Met148Ile)" "" "0000968821" "00001475" "30" "444" "0" "444" "0" "c.444G>A" "r.(?)" "p.(Met148Ile)" "" "0000968822" "00025446" "30" "717" "0" "717" "0" "c.717C>T" "r.(?)" "p.(=)" "" "0000968822" "00001475" "30" "717" "0" "717" "0" "c.717C>T" "r.(?)" "p.(=)" "" "0000968823" "00025446" "30" "730" "0" "730" "0" "c.730G>A" "r.(?)" "p.(Ala244Thr)" "" "0000968823" "00001475" "30" "730" "0" "730" "0" "c.730G>A" "r.(?)" "p.(Ala244Thr)" "" "0000982444" "00025446" "50" "859" "0" "859" "0" "c.859A>G" "r.(?)" "p.(Met287Val)" "" "0000982444" "00001475" "50" "859" "0" "859" "0" "c.859A>G" "r.(?)" "p.(Met287Val)" "" "0000982445" "00025446" "50" "997" "0" "997" "0" "c.997C>A" "r.(?)" "p.(Pro333Thr)" "" "0000982445" "00001475" "50" "997" "0" "997" "0" "c.997C>A" "r.(?)" "p.(Pro333Thr)" "" "0000982446" "00025446" "90" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Gly339Arg)" "" "0000982446" "00001475" "90" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Gly339Arg)" "" "0000987802" "00025446" "70" "22" "0" "23" "0" "c.22_23del" "r.(?)" "p.(Ile8Phefs*13)" "3" "0000987802" "00001475" "70" "22" "0" "23" "0" "c.22_23del" "r.(?)" "p.(Ile8Phefs*13)" "3" "0000987803" "00025446" "70" "1036" "0" "1047" "0" "c.1036_1047del" "r.(?)" "p.(Asp346_Phe349del)" "12" "0000987803" "00001475" "70" "1036" "0" "1047" "0" "c.1036_1047del" "r.(?)" "p.(Asp346_Phe349del)" "12" "0001041777" "00025446" "50" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63His)" "" "0001041777" "00001475" "50" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63His)" "" "0001041778" "00025446" "50" "444" "0" "444" "0" "c.444G>A" "r.(?)" "p.(Met148Ile)" "" "0001041778" "00001475" "50" "444" "0" "444" "0" "c.444G>A" "r.(?)" "p.(Met148Ile)" "" "0001041779" "00025446" "90" "681" "0" "681" "0" "c.681G>A" "r.(?)" "p.(Glu227=)" "" "0001041779" "00001475" "90" "681" "0" "681" "0" "c.681G>A" "r.(?)" "p.(Glu227=)" "" "0001041780" "00025446" "50" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Asp324Asn)" "" "0001041780" "00001475" "50" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Asp324Asn)" "" "0001041781" "00025446" "50" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Pro384Leu)" "" "0001041781" "00001475" "50" "1417" "0" "1417" "0" "c.*313C>T" "r.(=)" "p.(=)" "" "0001041782" "00025446" "50" "28575" "0" "28575" "0" "c.*27372C>G" "r.(=)" "p.(=)" "" "0001041782" "00001475" "50" "28841" "0" "28841" "0" "c.*27737C>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 111 "{{screeningid}}" "{{variantid}}" "0000000210" "0000013629" "0000249096" "0000502103" "0000249097" "0000502163" "0000249098" "0000502161" "0000249099" "0000502168" "0000249100" "0000502170" "0000249101" "0000502173" "0000249102" "0000502140" "0000249103" "0000502141" "0000249104" "0000502142" "0000249105" "0000502094" "0000249106" "0000502096" "0000249107" "0000502072" "0000249107" "0000502169" "0000249108" "0000502073" "0000249109" "0000502074" "0000249110" "0000502075" "0000249111" "0000502076" "0000249112" "0000502077" "0000249113" "0000502078" "0000249114" "0000502079" "0000249115" "0000502080" "0000249116" "0000502081" "0000249117" "0000502082" "0000249118" "0000502083" "0000249119" "0000502084" "0000249120" "0000502085" "0000249121" "0000502086" "0000249122" "0000502087" "0000249123" "0000502088" "0000249124" "0000502089" "0000249125" "0000502090" "0000249126" "0000502091" "0000249126" "0000502111" "0000249127" "0000502092" "0000249127" "0000502112" "0000249128" "0000502093" "0000249129" "0000502095" "0000249130" "0000502097" "0000249130" "0000502115" "0000249131" "0000502100" "0000249132" "0000502101" "0000249133" "0000502098" "0000249133" "0000502113" "0000249134" "0000502099" "0000249135" "0000502102" "0000249135" "0000502162" "0000249136" "0000502104" "0000249137" "0000502105" "0000249138" "0000502106" "0000249139" "0000502107" "0000249140" "0000502108" "0000249140" "0000502175" "0000249141" "0000502109" "0000249142" "0000502110" "0000249142" "0000502158" "0000249143" "0000502114" "0000249144" "0000502116" "0000249145" "0000502117" "0000249145" "0000502164" "0000249146" "0000502118" "0000249147" "0000502119" "0000249148" "0000502120" "0000249149" "0000502121" "0000249150" "0000502122" "0000249151" "0000502125" "0000249152" "0000502127" "0000249153" "0000502147" "0000249154" "0000502123" "0000249155" "0000502124" "0000249156" "0000502126" "0000249157" "0000502128" "0000249158" "0000502129" "0000249159" "0000502130" "0000249160" "0000502131" "0000249161" "0000502132" "0000249162" "0000502133" "0000249163" "0000502134" "0000249164" "0000502135" "0000249165" "0000502136" "0000249166" "0000502137" "0000249167" "0000502138" "0000249168" "0000502139" "0000249169" "0000502143" "0000249170" "0000502144" "0000249171" "0000502145" "0000249172" "0000502146" "0000249173" "0000502148" "0000249174" "0000502149" "0000249174" "0000502174" "0000249175" "0000502150" "0000249176" "0000502151" "0000249177" "0000502152" "0000249178" "0000502153" "0000249179" "0000502154" "0000249179" "0000502167" "0000249180" "0000502155" "0000249181" "0000502156" "0000249182" "0000502157" "0000249183" "0000502159" "0000249184" "0000502160" "0000249184" "0000502171" "0000249185" "0000502165" "0000249186" "0000502166" "0000249187" "0000502172" "0000266610" "0000597339" "0000292852" "0000649541" "0000292853" "0000649542" "0000419800" "0000879967" "0000453252" "0000987802" "0000453252" "0000987803"