### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CTC1) # 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}}" "CTC1" "CTS telomere maintenance complex component 1" "17" "p13.1" "unknown" "NG_032148.1" "UD_132378575606" "{PMID:Anderson 2012:22267198}, {PMID:Polvi 2012:22387016}, {PMID:Keller 2012:22532422}, {PMID:Romaniello 2013:23220793}, {PMID:Walne 2013:22899577}, {PMID:Chen 2013:24115768}, {PMID:Yannuzzi 2014:25197929}, {PMID:Bisserbe 2015:25843205}" "" "" "1" "26169" "80169" "613129" "1" "1" "1" "1" "" "" "" "http://databases.lovd.nl/shared/refseq/CTC1_NM_025099.5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-03-08 00:00:00" "00015" "2015-04-13 10:08:01" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001799" "CTC1" "CTS telomere maintenance complex component 1" "001" "NM_025099.5" "" "NP_079375.3" "" "" "" "-59" "7013" "3654" "8151413" "8128139" "00001" "2013-03-08 10:49:02" "" "" ## 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}}" "00115" "CRMCC" "microangiopathy, cerebroretinal, with calcifications and cysts (CRMCC, Coats plus syndrome)" "AR" "612199" "" "" "" "00001" "2013-03-08 10:55:44" "00006" "2021-12-10 21:51:32" "00116" "ND" "Norrie disease" "XLR" "310600" "" "" "" "00001" "2013-03-13 14:01:08" "00006" "2022-12-31 11:13:32" "00119" "DKC" "dyskeratosis congenita (DKC)" "" "" "" "" "" "00015" "2013-03-14 10:08:13" "00006" "2015-12-08 23:54:35" "00120" "CTC1related" "CTC1-related diseases" "AR" "" "" "" "" "00015" "2013-03-14 15:04:56" "00006" "2021-12-11 13:56:28" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "CTC1" "00115" "CTC1" "00119" "CTC1" "00120" ## Individuals ## Do not remove or alter this header ## ## Count = 43 "{{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}}" "00000371" "" "" "" "1" "" "00000" "{PMID:Anderson 2012:22267198}" "F273" "M" "no" "" ">15y" "" "" "" "Egyptian" "" "00000372" "" "" "" "1" "" "00000" "{PMID:Anderson 2012:22267198}" "F319" "M" "no" "" ">24y" "" "" "" "Norwegian" "" "00000373" "" "" "" "1" "" "00000" "{PMID:Anderson 2012:22267198}" "F332" "M" "no" "" ">20y" "" "" "" "English" "" "00000374" "" "" "" "1" "" "00000" "{PMID:Anderson 2012:22267198}" "F335_P1, sibling of F335_P2" "F" "no" "" "25y" "" "" "" "Scottish" "" "00000375" "" "" "" "1" "" "00000" "{PMID:Anderson 2012:22267198}" "F335_P2, sibling of F335_P1" "F" "no" "" "22y" "" "" "" "Scottish" "" "00000376" "" "" "" "1" "" "00000" "{PMID:Anderson 2012:22267198}" "F336" "F" "no" "" "28y" "" "" "" "English" "" "00000377" "" "" "" "1" "" "00000" "{PMID:Anderson 2012:22267198}" "F340" "M" "no" "" ">22y" "" "" "" "European-American" "" "00000378" "" "" "" "1" "" "00000" "{PMID:Anderson 2012:22267198}" "F342_P1, sibling of F342_P2" "F" "no" "" "13y" "" "" "" "English and Italian" "" "00000379" "" "" "" "1" "" "00000" "{PMID:Anderson 2012:22267198}" "F342_P2, sibling of F342_P1" "M" "no" "" ">18y" "" "" "" "English and Italian" "" "00000380" "" "" "" "1" "" "00000" "{PMID:Anderson 2012:22267198}" "F345" "M" "no" "" "02y" "" "" "" "Swiss and French" "" "00000382" "" "" "" "1" "" "00015" "{PMID:Anderson 2012:22267198}, {PMID:Polvi 2012:22387016}" "This individual is reported twise, once in Anderson et al 2012 (F382) and once in Polvi et al. 2012 (F12:II-1)" "M" "no" "Portugal" ">03y08m" "" "" "" "Portuguese" "" "00000383" "" "" "" "1" "" "00015" "{PMID:Linnankivi 2006:16943371}, {PMID:Polvi 2012:22387016}" "F1:II-1, patient 2 in Linnakivi et al. 2006" "F" "no" "Finland" "06y" "" "" "" "Finnish" "" "00000384" "" "" "" "1" "" "00015" "{PMID:Linnankivi 2006:16943371}, {PMID:Polvi 2012:22387016}" "F2:II-1" "F" "no" "Finland" ">11y" "" "" "" "Finnish" "" "00000385" "" "" "" "1" "" "00015" "{PMID:Toiviainen-Salo 2011:21523908}, {PMID:Polvi 2012:22387016}" "F3:II-1, patient 1 in Toiviainen-Salo et al. 2011" "F" "no" "Finland" "18y" "" "" "" "Finnish" "" "00000386" "" "" "" "1" "" "00015" "{PMID:Linnankivi 2006:16943371}, {PMID:Polvi 2012:22387016}" "F4:II-2, patient 5 in Linnankivi et al. 2006" "F" "no" "Finland" "13y" "" "" "" "Finnish" "" "00000387" "" "" "" "1" "" "00015" "{PMID:Polvi 2012:22387016}" "F5:II-1" "F" "no" "Finland" ">04y" "" "" "" "Finland" "" "00000388" "" "" "" "1" "" "00015" "{PMID:Linnankivi 2006:16943371}, {PMID:Polvi 2012:22387016}" "F6:II-3, patient 4 in Linnankivi et al. 2006" "F" "no" "Finland" ">15y" "" "" "" "Finnish" "" "00000389" "" "" "" "1" "" "00015" "{PMID:Polvi 2012:22387016}" "F7:II-3" "M" "no" "Finland" "01y09m" "" "" "" "Finnish" "" "00000390" "" "" "" "1" "" "00015" "{PMID:Linnankivi 2006:16943371}, {PMID:Polvi 2012:22387016}" "F8:II-1, patient 12 in Linnankivi et al. 2006" "M" "no" "Finland" ">22y" "" "" "" "Finnish" "" "00000391" "" "" "" "1" "" "00015" "{PMID:Polvi 2012:22387016}" "F9:II-2" "M" "no" "Finland" "01y05m" "" "" "" "Finnish" "" "00000392" "" "" "" "1" "" "00015" "{PMID:Linnankivi 2006:16943371}, {PMID:Polvi 2012:22387016}" "F10:II-1, patient 8 in Linnankivi et al. 2006, sister of F10:II-2" "F" "no" "Finland" "22y" "" "" "" "Finnish" "" "00000393" "" "" "" "1" "" "00015" "{PMID:Linnankivi 2006:16943371}, {PMID:Polvi 2012:22387016}" "F10:II-2, patient 6 in Linnankivi et al. 2006, brother of patient F10:II-1" "M" "no" "Finland" "16y" "" "" "" "Finnish" "" "00000394" "" "" "" "1" "" "00015" "{PMID:Polvi 2012:22387016}" "F11:II-1" "M" "no" "United States" "17y" "" "" "" "" "" "00000396" "" "" "" "1" "" "00015" "{PMID:Romaniello 2013:23220793}" "" "M" "" "(Italy)" ">08y" "0" "" "" "" "" "00000397" "" "" "" "1" "" "00015" "{PMID:Keller 2012:22532422}" "" "F" "" "(United States)" ">18y" "" "" "" "" "" "00000398" "" "" "" "1" "" "00015" "{PMID:Walne 2013:22899577}" "1:II-1" "F" "" "(United Kingdom (Great Britain))" "22y" "" "" "" "" "" "00000399" "" "" "" "1" "" "00015" "{PMID:Walne 2013:22899577}" "2:II-1" "M" "" "United Kingdom (Great Britain)" ">12y" "" "" "" "" "" "00000400" "" "" "" "1" "" "00015" "{PMID:Walne 2013:22899577}" "5:II-3" "M" "" "(United Kingdom (Great Britain))" ">24y" "" "" "" "" "" "00000401" "" "" "" "1" "" "00015" "{PMID:Walne 2013:22899577}" "3:II-1" "M" "" "(United Kingdom (Great Britain))" "26y" "" "" "" "" "" "00000402" "" "" "" "1" "" "00015" "{PMID:Walne 2013:22899577}" "4:II-1, sibling of 4:II-2" "M" "" "(United Kingdom (Great Britain))" ">29y" "" "" "" "" "" "00000403" "" "" "" "1" "" "00015" "{PMID:Walne 2013:22899577}" "4:II-2, sibling of 4:II-1" "M" "" "(United Kingdom (Great Britain))" ">25y" "" "" "" "" "" "00000404" "" "" "" "1" "" "00015" "{PMID:Anderson 2012:22267198}" "F367" "M" "no" "" ">20y" "" "" "" "African and European" "" "00034569" "" "" "" "1" "" "00015" "{PMID:Yannuzzi 2014:25197929}" "" "M" "no" "(United States)" "" "0" "" "" "African American Colombian" "" "00037569" "" "" "" "1" "" "00015" "{PMID:Bisserbe 2015:25843205}" "" "M" "no" "" "" "0" "" "" "" "" "00037771" "" "" "" "1" "" "00015" "{PMID:Netravahti 2015:25928698}, {DOI:Netravahti 2015:10.1186/s12881-015-0151-8}" "2-generation family, unaffected heterozygous carrier parents" "M" "no" "India" ">08y" "0" "" "" "Indian" "" "00154407" "" "" "" "1" "" "00015" "{PMID:Mansukhani 2017:28864049}" "" "F" "" "" ">02y" "0" "" "" "" "1" "00154408" "" "" "" "1" "" "00015" "{PMID:Xu 2017:28072696}" "" "F" "" "China" "" "0" "" "" "" "" "00208831" "" "" "" "1" "" "00015" "{PMID:Sargolzaeiaval et al. 2018:30393977}" "" "M" "yes" "Brazil" "" "0" "" "" "" "BD1010" "00291903" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291904" "" "" "" "21" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00320164" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00374286" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-6075" "00387621" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 44 "{{individualid}}" "{{diseaseid}}" "00000371" "00115" "00000372" "00115" "00000373" "00115" "00000374" "00115" "00000375" "00115" "00000376" "00115" "00000377" "00115" "00000378" "00115" "00000379" "00115" "00000380" "00115" "00000382" "00115" "00000383" "00115" "00000384" "00115" "00000385" "00115" "00000386" "00115" "00000387" "00115" "00000388" "00115" "00000389" "00115" "00000390" "00115" "00000391" "00115" "00000392" "00115" "00000393" "00115" "00000394" "00115" "00000396" "00115" "00000396" "00116" "00000397" "00119" "00000398" "00119" "00000399" "00119" "00000400" "00119" "00000401" "00120" "00000402" "00120" "00000403" "00120" "00000404" "00115" "00034569" "00115" "00037569" "00115" "00037771" "00115" "00154407" "00115" "00154408" "00115" "00208831" "00120" "00291903" "00198" "00291904" "00198" "00320164" "00198" "00374286" "00198" "00387621" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00115, 00116, 00119, 00120, 00198, 04214 ## Count = 39 "{{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}}" "0000000060" "00115" "00000371" "00000" "Familial, autosomal recessive" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "0000000061" "00115" "00000372" "00000" "Familial, autosomal recessive" "24y" "" "" "" "" "" "" "" "" "" "" "" "" "0000000062" "00115" "00000373" "00000" "Familial, autosomal recessive" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "0000000063" "00115" "00000374" "00000" "Familial, autosomal recessive" "25y" "" "" "" "" "" "" "" "" "" "" "" "" "0000000064" "00115" "00000375" "00000" "Familial, autosomal recessive" "22y" "" "" "" "" "" "" "" "" "" "" "" "" "0000000065" "00115" "00000376" "00000" "Familial, autosomal recessive" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "0000000066" "00115" "00000377" "00000" "Familial, autosomal recessive" "22y" "" "" "" "" "" "" "" "" "" "" "" "" "0000000067" "00115" "00000378" "00000" "Familial, autosomal recessive" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "0000000068" "00115" "00000379" "00000" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "0000000069" "00115" "00000380" "00000" "Familial, autosomal recessive" "02y" "" "" "" "" "" "" "" "" "" "" "" "" "0000000071" "00115" "00000382" "00000" "Familial, autosomal recessive" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "0000000072" "00115" "00000383" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000073" "00115" "00000384" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000074" "00115" "00000385" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000075" "00115" "00000386" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000076" "00115" "00000387" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000077" "00115" "00000388" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000078" "00115" "00000389" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000079" "00115" "00000390" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000080" "00115" "00000391" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000081" "00115" "00000392" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000082" "00115" "00000393" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000083" "00115" "00000394" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000084" "00115" "00000396" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000085" "00116" "00000396" "00015" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000087" "00119" "00000398" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000088" "00119" "00000399" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000089" "00119" "00000400" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000090" "00120" "00000401" "00015" "Familial, autosomal recessive" "" "Share several symptoms with DKC and CRMCC" "" "" "" "" "" "" "" "" "" "" "" "0000000091" "00120" "00000402" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000092" "00120" "00000403" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000094" "00115" "00000404" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027974" "00115" "00034569" "00015" "Familial, autosomal recessive" "02y10m" "" "" "" "" "" "" "" "" "" "" "" "" "0000028090" "00115" "00037569" "00015" "Familial, autosomal recessive" "16y" "" "03y" "" "" "" "" "" "" "" "" "" "" "0000028316" "00115" "00037771" "00015" "Familial, autosomal recessive" "" "Coats plus syndrome; dextrocardia, situs inversus; see paper ..." "" "" "" "" "" "" "" "" "" "" "" "0000127133" "00115" "00154407" "00015" "Unknown" "00y08m" "" "00y" "00y08m" "00y" "" "" "" "" "" "CRMCC" "CRMCC" "" "0000242210" "00198" "00320164" "01807" "Unknown" "" "Inguinal hernia (HP:0000023); Failure to thrive (HP:0001508); Patent ductus arteriosus (HP:0001643); Patent foramen ovale (HP:0001655); Retinopathy of prematurity (HP:0500049)" "" "" "" "" "" "" "" "" "" "" "" "0000269496" "00198" "00374286" "00006" "Familial, autosomal recessive" "" "Features suggestive of leukodystrophy" "" "" "" "" "" "" "" "" "" "Krabbe disease" "" "0000281184" "04214" "00387621" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Coats plus syndrome" "Adult retinal dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 43 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000395" "00000371" "1" "00002" "00002" "2012-03-26 12:40:59" "" "" "SEQ" "DNA" "" "" "0000000396" "00000372" "1" "00002" "00002" "2012-03-26 12:40:59" "" "" "SEQ" "DNA" "" "" "0000000397" "00000373" "1" "00002" "00002" "2012-03-26 12:40:59" "" "" "SEQ" "DNA" "" "" "0000000398" "00000374" "1" "00002" "00002" "2012-03-26 12:40:59" "" "" "SEQ" "DNA" "" "" "0000000399" "00000375" "1" "00002" "00002" "2012-03-26 12:41:00" "" "" "SEQ" "DNA" "" "" "0000000400" "00000376" "1" "00002" "00002" "2012-03-26 12:41:00" "" "" "SEQ" "DNA" "" "" "0000000401" "00000377" "1" "00002" "00002" "2012-03-26 12:41:00" "" "" "SEQ" "DNA" "" "" "0000000402" "00000378" "1" "00002" "00002" "2012-03-26 12:41:00" "" "" "SEQ" "DNA" "" "" "0000000403" "00000379" "1" "00002" "00002" "2012-03-26 12:41:00" "" "" "SEQ" "DNA" "" "" "0000000404" "00000380" "1" "00002" "00002" "2012-03-26 12:41:00" "" "" "SEQ" "DNA" "" "" "0000000406" "00000382" "1" "00002" "00002" "2012-03-26 12:41:00" "" "" "SEQ" "DNA" "" "" "0000000407" "00000383" "1" "00015" "00015" "2013-03-11 10:26:44" "" "" "SEQ" "DNA" "" "" "0000000408" "00000384" "1" "00015" "00015" "2013-03-11 13:15:53" "" "" "SEQ" "DNA" "" "" "0000000409" "00000385" "1" "00015" "00015" "2013-03-11 13:30:15" "" "" "SEQ" "DNA" "" "" "0000000410" "00000386" "1" "00015" "00015" "2013-03-11 13:40:38" "" "" "SEQ" "DNA" "" "" "0000000411" "00000387" "1" "00015" "00015" "2013-03-11 13:55:36" "" "" "SEQ" "DNA" "" "" "0000000412" "00000388" "1" "00015" "00015" "2013-03-11 14:02:58" "" "" "SEQ" "DNA" "" "" "0000000413" "00000389" "1" "00015" "00015" "2013-03-11 14:12:55" "" "" "SEQ" "DNA" "" "" "0000000414" "00000390" "1" "00015" "00015" "2013-03-11 14:20:59" "00015" "2013-03-14 14:51:12" "PCR;SEQ" "DNA" "" "" "0000000415" "00000391" "1" "00015" "00015" "2013-03-11 14:29:25" "" "" "SEQ" "DNA" "" "" "0000000416" "00000392" "1" "00015" "00015" "2013-03-11 14:43:30" "" "" "SEQ" "DNA" "" "" "0000000417" "00000393" "1" "00015" "00015" "2013-03-11 14:53:28" "" "" "SEQ" "DNA" "" "" "0000000418" "00000394" "1" "00015" "00015" "2013-03-11 14:59:47" "00015" "2013-03-11 15:03:25" "SEQ" "DNA" "" "" "0000000420" "00000396" "1" "00015" "00015" "2013-03-13 13:49:53" "" "" "PCR;SEQ" "DNA" "" "" "0000000422" "00000397" "1" "00015" "00015" "2013-03-14 09:56:32" "" "" "PCR;SEQ" "DNA" "" "" "0000000423" "00000398" "1" "00015" "00015" "2013-03-14 13:46:29" "" "" "PCR;SEQ" "DNA" "" "" "0000000424" "00000399" "1" "00015" "00015" "2013-03-14 13:56:18" "" "" "PCR;SEQ" "DNA" "" "" "0000000425" "00000400" "1" "00015" "00015" "2013-03-14 14:03:19" "" "" "PCR;SEQ" "DNA" "" "" "0000000426" "00000401" "1" "00015" "00015" "2013-03-14 15:11:47" "" "" "PCR;SEQ" "DNA" "" "" "0000000427" "00000402" "1" "00015" "00015" "2013-03-15 08:20:55" "" "" "PCR;SEQ" "DNA" "" "" "0000000428" "00000403" "1" "00015" "00015" "2013-03-15 08:28:21" "" "" "PCR;SEQ" "DNA" "" "" "0000000429" "00000404" "1" "00015" "00015" "2013-03-15 12:05:31" "" "" "PCR;SEQ" "DNA" "" "" "0000034640" "00034569" "1" "00015" "00015" "2015-03-29 19:26:42" "" "" "?" "DNA" "" "" "0000037663" "00037569" "1" "00015" "00015" "2015-04-10 15:22:26" "" "" "?" "DNA" "" "" "0000038002" "00037771" "1" "00015" "00015" "2015-05-04 14:40:52" "" "" "SEQ" "DNA" "blood" "" "0000155267" "00154407" "1" "00015" "00015" "2018-02-24 16:02:52" "" "" "?" "DNA" "" "" "0000155268" "00154408" "1" "00015" "00015" "2018-02-24 16:30:44" "00006" "2018-02-26 14:03:57" "SEQ" "DNA" "" "" "0000209880" "00208831" "1" "00015" "00015" "2018-12-17 16:17:13" "00015" "2018-12-17 16:32:42" "SEQ-NG-I" "DNA" "blood" "" "0000293071" "00291903" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293072" "00291904" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000321349" "00320164" "1" "01807" "01807" "2020-11-23 17:38:52" "00001" "2020-11-23 17:39:41" "SEQ" "DNA" "" "" "0000375480" "00374286" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000388847" "00387621" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{geneid}}" "0000000395" "CTC1" "0000000396" "CTC1" "0000000397" "CTC1" "0000000398" "CTC1" "0000000399" "CTC1" "0000000400" "CTC1" "0000000401" "CTC1" "0000000402" "CTC1" "0000000403" "CTC1" "0000000404" "CTC1" "0000000406" "CTC1" "0000000407" "CTC1" "0000000408" "CTC1" "0000000409" "CTC1" "0000000410" "CTC1" "0000000411" "CTC1" "0000000412" "CTC1" "0000000413" "CTC1" "0000000414" "CTC1" "0000000415" "CTC1" "0000000416" "CTC1" "0000000417" "CTC1" "0000000418" "CTC1" "0000000420" "CTC1" "0000000422" "CTC1" "0000000423" "CTC1" "0000000424" "CTC1" "0000000425" "CTC1" "0000000426" "CTC1" "0000000427" "CTC1" "0000000428" "CTC1" "0000000429" "CTC1" "0000034640" "CTC1" "0000037663" "CTC1" "0000038002" "CTC1" "0000038002" "HES7" "0000155267" "CTC1" "0000155268" "CTC1" "0000375480" "CTC1" "0000388847" "CTC1" ## 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 = 214 "{{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}}" "0000017119" "1" "99" "17" "8133719" "8133719" "dup" "0" "00000" "CTC1_000001" "g.8133719dup" "" "{PMID:Anderson et al. 2012:22267198}" "" "" "" "Germline" "yes" "" "" "" "" "g.8230401dup" "" "pathogenic" "" "0000017120" "2" "77" "17" "8133205" "8133205" "subst" "4.06303E-6" "00000" "CTC1_000002" "g.8133205T>G" "" "{PMID:Anderson et al. 2012:22267198}" "AvaII+;TspRI-" "" "Predicted to affect splicing" "Germline" "yes" "" "" "" "" "g.8229887T>G" "" "likely pathogenic" "" "0000017121" "0" "99" "17" "8140764" "8140764" "subst" "4.4669E-5" "00000" "CTC1_000003" "g.8140764G>A" "" "{PMID:Anderson et al. 2012:22267198}" "Hpy166II-" "" "" "Germline" "yes" "rs372781355" "0" "" "" "g.8237446G>A" "" "pathogenic" "" "0000017122" "0" "99" "17" "8133622" "8133622" "subst" "6.96539E-5" "00000" "CTC1_000004" "g.8133622T>C" "" "{PMID:Anderson et al. 2012:22267198}, {PMID:Chen et al 2013:24115768}" "" "" "Functional analysis; Decreased telomere association, no telomere replication" "Germline" "yes" "rs199473678" "0" "" "" "g.8230304T>C" "" "pathogenic" "" "0000017123" "0" "99" "17" "8140760" "8140763" "del" "0" "00000" "CTC1_000022" "g.8140760_8140763del" "" "{PMID:Anderson et al. 2012:22267198}" "HindIII-" "" "" "Germline" "yes" "rs199473674" "0" "" "" "g.8237442_8237445del" "" "pathogenic" "" "0000017124" "0" "99" "17" "8133261" "8133261" "subst" "5.68648E-5" "00000" "CTC1_000006" "g.8133261G>A" "" "{PMID:Anderson et al. 2012:22267198}, {PMID:Chen et al 2013:24115768}" "MspI-" "" "Functional analysis; Decreased telomere association, no telomere replication, localization in cytoplasm" "Germline" "yes" "rs202138550" "0" "" "" "g.8229943G>A" "" "pathogenic" "" "0000017125" "0" "99" "17" "8140760" "8140763" "del" "0" "00000" "CTC1_000022" "g.8140760_8140763del" "" "{PMID:Anderson et al. 2012:22267198}" "HindIII-" "" "" "Germline" "yes" "rs199473674" "0" "" "" "g.8237442_8237445del" "" "pathogenic" "" "0000017126" "0" "97" "17" "8133261" "8133261" "subst" "5.68648E-5" "00000" "CTC1_000006" "g.8133261G>A" "" "{PMID:Anderson et al. 2012:22267198}" "MspI-" "" "" "Germline" "yes" "rs202138550" "0" "" "" "g.8229943G>A" "" "pathogenic" "" "0000017127" "0" "99" "17" "8140760" "8140763" "del" "0" "00000" "CTC1_000022" "g.8140760_8140763del" "" "{PMID:Anderson et al. 2012:22267198}" "HindIII-" "" "" "Germline" "yes" "rs199473674" "0" "" "" "g.8237442_8237445del" "" "pathogenic" "" "0000017128" "0" "99" "17" "8133261" "8133261" "subst" "5.68648E-5" "00000" "CTC1_000006" "g.8133261G>A" "" "{PMID:Anderson et al. 2012:22267198}" "MspI-" "" "" "Germline" "yes" "rs202138550" "0" "" "" "g.8229943G>A" "" "pathogenic" "" "0000017129" "0" "99" "17" "8140760" "8140763" "del" "0" "00000" "CTC1_000022" "g.8140760_8140763del" "" "{PMID:Anderson et al. 2012:22267198}" "HindIII-" "" "" "Germline" "yes" "rs199473674" "0" "" "" "g.8237442_8237445del" "" "pathogenic" "" "0000017130" "2" "99" "17" "8134652" "8134652" "subst" "2.85756E-5" "00000" "CTC1_000007" "g.8134652C>T" "" "{PMID:Anderson et al. 2012:22267198}, {PMID:Chen et al 2013:24115768}" "" "" "Functional analysis; No telomere replication" "Germline" "yes" "rs369255297" "0" "" "" "g.8231334C>T" "" "pathogenic" "" "0000017131" "0" "99" "17" "8151336" "8151336" "subst" "1.71006E-5" "00000" "CTC1_000008" "g.8151336G>A" "" "{PMID:Anderson et al. 2012:22267198}" "BfaI+;ApaI-" "" "" "Germline" "yes" "rs374877315" "0" "" "" "g.8248018G>A" "" "pathogenic" "" "0000017132" "0" "99" "17" "8133261" "8133261" "subst" "5.68648E-5" "00000" "CTC1_000006" "g.8133261G>A" "" "{PMID:Anderson et al. 2012:22267198}" "MspI-" "" "" "Germline" "yes" "rs202138550" "0" "" "" "g.8229943G>A" "" "pathogenic" "" "0000017133" "1" "99" "17" "8140710" "8140710" "subst" "8.12196E-6" "00000" "CTC1_000009" "g.8140710C>T" "" "{PMID:Anderson et al. 2012:22267198}, {PMID:Chen et al 2013:24115768}" "FatI+;AleI-" "" "Functional analysis; No DNA Pol alpha-primase binding, localization in cytoplasm, decreased telomere association, no telomere replication, increased telomere elongation" "Germline" "yes" "rs387907080" "0" "" "" "g.8237392C>T" "" "pathogenic" "" "0000017134" "2" "99" "17" "8134745" "8134745" "subst" "1.22181E-5" "00000" "CTC1_000010" "g.8134745G>A" "" "{PMID:Anderson et al. 2012:22267198}" "NmeAIII-" "" "" "Germline" "yes" "rs373905859" "0" "" "" "g.8231427G>A" "" "pathogenic" "" "0000017135" "1" "99" "17" "8140710" "8140710" "subst" "8.12196E-6" "00000" "CTC1_000009" "g.8140710C>T" "" "{PMID:Anderson et al. 2012:22267198}" "FatI+;AleI-" "" "" "Germline" "yes" "rs387907080" "0" "" "" "g.8237392C>T" "" "pathogenic" "" "0000017136" "2" "99" "17" "8134745" "8134745" "subst" "1.22181E-5" "00000" "CTC1_000010" "g.8134745G>A" "" "{PMID:Anderson et al. 2012:22267198}, {PMID:Chen et al 2013:24115768}" "NmeAIII-" "" "Functional analysis; No telomere replication" "Germline" "yes" "rs373905859" "0" "" "" "g.8231427G>A" "" "pathogenic" "" "0000017137" "0" "99" "17" "8140760" "8140763" "del" "0" "00000" "CTC1_000022" "g.8140760_8140763del" "" "{PMID:Anderson et al. 2012:22267198}" "HindIII-" "" "" "Germline" "yes" "rs199473674" "0" "" "" "g.8237442_8237445del" "" "pathogenic" "" "0000017138" "0" "99" "17" "8138177" "8138177" "subst" "4.08127E-6" "00000" "CTC1_000011" "g.8138177C>G" "" "{PMID:Anderson et al. 2012:22267198}" "Cac8I+;BslI-" "" "Functional analysis; Decreased telomere association, no telomere replication, increased telomere elongation" "Germline" "yes" "" "0" "" "" "g.8234859C>G" "" "pathogenic" "" "0000017141" "21" "99" "17" "8133269" "8133271" "del" "0" "00015" "CTC1_000023" "g.8133269_8133271del" "0/5457 con" "{PMID:Anderson et al. 2012:22267198}, {PMID:Polvi et al. 2012:22387016}" "" "" "" "SUMMARY record" "yes" "rs199473679" "0" "" "" "g.8229951_8229953del" "" "pathogenic" "" "0000017142" "11" "99" "17" "8131551" "8131571" "del" "0" "00015" "CTC1_000014" "g.8131551_8131571del" "0/5457 con" "{PMID:Anderson et al. 2012:22267198}, {PMID:Polvi et al. 2012:22387016}, {PMID:Chen et al. 2013:24115768}" "BcgI-" "" "Functional analysis; No STN1, CST and DNA Pol alpha-primase binding, localization in cytoplasm, no telomere association or replication" "SUMMARY record" "yes" "rs199473683" "0" "" "" "g.8228233_8228253del" "" "pathogenic" "" "0000017145" "10" "99" "17" "8135745" "8135745" "subst" "0.000203122" "00015" "CTC1_000015" "g.8135745A>C" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}, {PMID:Chen et al. 2013:24115768}" "" "" "Functional analysis; Decreased telomere association, no telomere replication, increased telomere elongation, no DNA Pol alpha-primase binding" "Germline" "yes" "rs199473676" "0" "" "" "g.8232427A>C" "" "pathogenic" "" "0000017146" "21" "99" "17" "8133719" "8133719" "del" "0" "00015" "CTC1_000016" "g.8133719del" "1/5457 con:het" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473677" "0" "" "" "g.8230401del" "" "pathogenic" "" "0000017147" "11" "99" "17" "8135745" "8135745" "subst" "0.000203122" "00015" "CTC1_000015" "g.8135745A>C" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473676" "" "" "" "g.8232427A>C" "" "pathogenic" "" "0000017148" "21" "99" "17" "8133719" "8133719" "del" "0" "00015" "CTC1_000016" "g.8133719del" "1/5457 con:het" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473677" "0" "" "" "g.8230401del" "" "pathogenic" "" "0000017149" "11" "99" "17" "8135745" "8135745" "subst" "0.000203122" "00015" "CTC1_000015" "g.8135745A>C" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473676" "" "" "" "g.8232427A>C" "" "pathogenic" "" "0000017150" "20" "99" "17" "8133719" "8133719" "del" "0" "00015" "CTC1_000016" "g.8133719del" "1/5457 con:het" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473677" "0" "" "" "g.8230401del" "" "pathogenic" "" "0000017151" "21" "99" "17" "8135745" "8135745" "subst" "0.000203122" "00015" "CTC1_000015" "g.8135745A>C" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473676" "" "" "" "g.8232427A>C" "" "pathogenic" "" "0000017152" "11" "99" "17" "8133719" "8133719" "del" "0" "00015" "CTC1_000016" "g.8133719del" "1/5457 con:het" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473677" "0" "" "" "g.8230401del" "" "pathogenic" "" "0000017153" "21" "99" "17" "8135745" "8135745" "subst" "0.000203122" "00015" "CTC1_000015" "g.8135745A>C" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473676" "" "" "" "g.8232427A>C" "" "pathogenic" "" "0000017154" "11" "99" "17" "8131909" "8131910" "delins" "0" "00015" "CTC1_000017" "g.8131909_8131910delinsAT" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}, {PMID:Chen et al. 2013:24115768}" "" "" "Functional analysis; No STN1 binding, decreased CST and DNA Pol alpha-primase binding, localization in cytoplasm, decreased telomere association, no telomere replication" "Germline" "yes" "rs199473681" "0" "" "" "g.8228591_8228592delinsAT" "" "pathogenic" "" "0000017155" "11" "99" "17" "8135745" "8135745" "subst" "0.000203122" "00015" "CTC1_000015" "g.8135745A>C" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473676" "" "" "" "g.8232427A>C" "" "pathogenic" "" "0000017156" "21" "99" "17" "8131569" "8131569" "subst" "0" "00015" "CTC1_000018" "g.8131569G>A" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473682" "0" "" "" "g.8228251G>A" "" "pathogenic" "" "0000017157" "21" "99" "17" "8135745" "8135745" "subst" "0.000203122" "00015" "CTC1_000015" "g.8135745A>C" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473676" "" "" "" "g.8232427A>C" "" "pathogenic" "" "0000017158" "11" "99" "17" "8132760" "8132760" "del" "0" "00015" "CTC1_000019" "g.8132760del" "1/5457 con:het" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473680" "0" "" "" "g.8229442del" "" "pathogenic" "" "0000017159" "21" "99" "17" "8140805" "8140805" "subst" "0.000162447" "00015" "CTC1_000020" "g.8140805G>A" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}; {PMID:Chen et al. 2013:24115768}" "" "" "Functional analysis; Decreased telomere association, no telomere replication, increased telomere elongation, no DNA Pol alpha-primase binding, localization in cytoplasm" "Germline" "yes" "rs199473673" "0" "" "" "g.8237487G>A" "" "pathogenic" "" "0000017160" "11" "99" "17" "8133719" "8133719" "del" "0" "00015" "CTC1_000016" "g.8133719del" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473677" "0" "" "" "g.8230401del" "" "pathogenic" "" "0000017161" "21" "99" "17" "8140805" "8140805" "subst" "0.000162447" "00015" "CTC1_000020" "g.8140805G>A" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473673" "0" "" "" "g.8237487G>A" "" "pathogenic" "" "0000017162" "11" "99" "17" "8133719" "8133719" "del" "0" "00015" "CTC1_000016" "g.8133719del" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473677" "0" "" "" "g.8230401del" "" "pathogenic" "" "0000017163" "21" "99" "17" "8140805" "8140805" "subst" "0.000162447" "00015" "CTC1_000020" "g.8140805G>A" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473673" "0" "" "" "g.8237487G>A" "" "pathogenic" "" "0000017164" "10" "99" "17" "8139395" "8139395" "del" "2.03386E-5" "00015" "CTC1_000021" "g.8139395del" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473675" "0" "" "" "g.8236077del" "" "pathogenic" "" "0000017165" "21" "99" "17" "8140805" "8140805" "subst" "0.000162447" "00015" "CTC1_000020" "g.8140805G>A" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473673" "0" "" "" "g.8237487G>A" "" "pathogenic" "" "0000017166" "10" "99" "17" "8139395" "8139395" "del" "2.03386E-5" "00015" "CTC1_000021" "g.8139395del" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473675" "0" "" "" "g.8236077del" "" "pathogenic" "" "0000017167" "0" "99" "17" "8140760" "8140763" "del" "0" "00015" "CTC1_000022" "g.8140760_8140763del" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473674" "0" "" "" "g.8237442_8237445del" "" "pathogenic" "" "0000017168" "0" "99" "17" "8133622" "8133622" "subst" "6.96539E-5" "00015" "CTC1_000004" "g.8133622T>C" "0/5457 con" "{PMID:Polvi et al. 2012:22387016}" "" "" "" "Germline" "yes" "rs199473678" "0" "" "" "g.8230304T>C" "" "pathogenic" "" "0000017173" "21" "99" "17" "8140710" "8140710" "subst" "8.12196E-6" "00015" "CTC1_000009" "g.8140710C>T" "0/500 con" "{PMID:Romaniello et al. 2013:23220793}" "" "" "" "Germline" "yes" "rs387907080" "0" "" "" "g.8237392C>T" "" "pathogenic" "" "0000017174" "11" "99" "17" "8138598" "8138598" "del" "0" "00015" "CTC1_000024" "g.8138598del" "0/500 con" "{PMID:Romaniello et al. 2013:23220793}" "" "c.1213delG, p.D405MfsX57" "" "Germline" "yes" "" "0" "" "" "g.8235280del" "" "pathogenic" "" "0000017178" "10" "99" "17" "8140760" "8140763" "del" "0" "00015" "CTC1_000022" "g.8140760_8140763del" "" "{PMID:Keller et al. 2012:22532422}" "" "" "" "Germline" "yes" "rs199473674" "0" "" "" "g.8237442_8237445del" "" "pathogenic" "" "0000017179" "21" "99" "17" "8133269" "8133271" "del" "0" "00015" "CTC1_000023" "g.8133269_8133271del" "" "{PMID:Keller et al. 2012:22532422}; {PMID:Chen et al. 2013:24115768}" "" "" "Functional analysis; No telomere replication" "Germline" "yes" "rs199473679" "0" "" "" "g.8229951_8229953del" "" "pathogenic" "" "0000017181" "10" "97" "17" "8140745" "8140745" "subst" "4.06088E-6" "00015" "CTC1_000025" "g.8140745A>G" "0.000008" "{PMID:Walne et al. 2013:22899577}" "" "" "" "Germline" "yes" "rs774742711" "0" "" "" "g.8237427A>G" "" "pathogenic" "" "0000017182" "21" "77" "17" "8139620" "8139620" "subst" "4.10968E-6" "00015" "CTC1_000026" "g.8139620C>A" "0.000008" "{PMID:Walne et al. 2013:22899577}" "" "" "" "Germline" "yes" "rs768853291" "0" "" "" "g.8236302C>A" "" "likely pathogenic" "" "0000017183" "0" "99" "17" "8140760" "8140763" "del" "0" "00015" "CTC1_000022" "g.8140760_8140763del" "" "{PMID:Walne et al. 2013:22899577}" "" "" "" "Germline" "yes" "rs199473674" "0" "" "" "g.8237442_8237445del" "" "pathogenic" "" "0000017184" "0" "99" "17" "8133269" "8133271" "del" "0" "00015" "CTC1_000023" "g.8133269_8133271del" "" "{PMID:Walne et al. 2013:22899577}" "" "" "" "Germline" "yes" "rs199473679" "0" "" "" "g.8229951_8229953del" "" "pathogenic" "" "0000017185" "0" "99" "17" "8140764" "8140764" "subst" "4.4669E-5" "00015" "CTC1_000003" "g.8140764G>A" "" "{PMID:Walne et al. 2013:22899577}" "" "" "" "Germline" "yes" "rs372781355" "0" "" "" "g.8237446G>A" "" "pathogenic" "" "0000017186" "0" "99" "17" "8133622" "8133622" "subst" "6.96539E-5" "00015" "CTC1_000004" "g.8133622T>C" "" "{PMID:Walne et al. 2013:22899577}" "" "" "" "Germline" "yes" "rs199473678" "0" "" "" "g.8230304T>C" "" "pathogenic" "" "0000017187" "0" "99" "17" "8138422" "8138428" "dup" "0" "00015" "CTC1_000027" "g.8138422_8138428dup" "" "{PMID:Walne et al. 2013:22899577}" "" "" "" "Germline" "yes" "" "" "" "" "g.8235104_8235110dup" "" "pathogenic" "" "0000017188" "0" "99" "17" "8133261" "8133261" "subst" "5.68648E-5" "00015" "CTC1_000006" "g.8133261G>A" "" "{PMID:Walne et al. 2013:22899577}" "" "" "" "Germline" "yes" "rs202138550" "0" "" "" "g.8229943G>A" "" "pathogenic" "" "0000017189" "21" "99" "17" "8138540" "8138540" "subst" "8.13544E-6" "00015" "CTC1_000028" "g.8138540A>C" "" "{PMID:Walne et al. 2013:22899577}" "" "" "" "Germline" "yes" "" "" "" "" "g.8235222A>C" "" "pathogenic" "" "0000017190" "11" "99" "17" "8133261" "8133261" "subst" "5.68648E-5" "00015" "CTC1_000006" "g.8133261G>A" "" "{PMID:Walne et al. 2013:22899577}" "" "" "" "Germline" "yes" "rs202138550" "0" "" "" "g.8229943G>A" "" "pathogenic" "" "0000017191" "21" "99" "17" "8138540" "8138540" "subst" "8.13544E-6" "00015" "CTC1_000028" "g.8138540A>C" "" "{PMID:Walne et al. 2013:22899577}" "" "" "" "Germline" "yes" "" "" "" "" "g.8235222A>C" "" "pathogenic" "" "0000017192" "11" "99" "17" "8133261" "8133261" "subst" "5.68648E-5" "00015" "CTC1_000006" "g.8133261G>A" "" "{PMID:Walne et al. 2013:22899577}" "" "" "" "Germline" "yes" "rs202138550" "0" "" "" "g.8229943G>A" "" "pathogenic" "" "0000017193" "1" "99" "17" "8139594" "8139594" "subst" "1.63082E-5" "00015" "CTC1_000029" "g.8139594G>A" "" "{PMID:Anderson et al. 2012:22267198}" "" "" "" "Germline" "yes" "rs397514660" "0" "" "" "g.8236276G>A" "" "pathogenic" "" "0000017194" "2" "99" "17" "8133269" "8133271" "del" "0" "00015" "CTC1_000023" "g.8133269_8133271del" "" "{PMID:Anderson et al. 2012:22267198}" "" "" "" "Germline" "yes" "rs199473679" "0" "" "" "g.8229951_8229953del" "" "pathogenic" "" "0000061758" "21" "77" "17" "8133880" "8133880" "subst" "1.62446E-5" "00015" "CTC1_000030" "g.8133880C>A" "" "{PMID:Yannuzzi et al. 2014:25197929}" "" "" "" "Germline" "yes" "" "0" "" "" "g.8230562C>A" "" "likely pathogenic" "" "0000061759" "11" "99" "17" "8133269" "8133271" "del" "0" "00015" "CTC1_000023" "g.8133269_8133271del" "" "{PMID:Yannuzzi et al. 2014:25197929}" "" "" "" "Germline" "yes" "rs199473679" "0" "" "" "g.8229951_8229953del" "" "pathogenic" "" "0000064811" "1" "99" "17" "8139620" "8139620" "subst" "4.10968E-6" "00015" "CTC1_000026" "g.8139620C>A" "0.000008" "{PMID:Bisserbe et al. 2015:25843205}" "" "" "" "Germline" "yes" "rs768853291" "0" "" "" "g.8236302C>A" "" "pathogenic" "" "0000064812" "2" "77" "17" "8139612" "8139612" "subst" "0" "00015" "CTC1_000031" "g.8139612A>G" "" "{PMID:Bisserbe et al. 2015:25843205}" "" "" "" "Germline" "yes" "" "0" "" "" "g.8236294A>G" "" "likely pathogenic" "" "0000065312" "3" "99" "17" "8138233" "8138233" "subst" "0" "00015" "CTC1_000032" "g.8138233T>G" "0/391 controls" "{PMID:Netravahti et al 2015:25928698}" "" "" "Functional analysis; Reduced telomere length" "Germline" "yes" "" "0" "" "" "g.8234915T>G" "" "pathogenic" "" "0000256521" "0" "50" "17" "8134757" "8134757" "subst" "0.000106067" "01943" "CTC1_000039" "g.8134757A>G" "" "" "" "CTC1(NM_025099.6):c.2506T>C (p.S836P, p.(Ser836Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8231439A>G" "" "VUS" "" "0000267164" "0" "10" "17" "8135061" "8135061" "subst" "0.94743" "02325" "CTC1_000041" "g.8135061T>C" "" "" "" "CTC1(NM_025099.6):c.2458A>G (p.I820V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8231743T>C" "" "benign" "" "0000267165" "0" "10" "17" "8132763" "8132763" "subst" "0.738699" "02325" "CTC1_000036" "g.8132763T>C" "" "" "" "CTC1(NM_025099.6):c.3013A>G (p.I1005V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8229445T>C" "" "benign" "" "0000267166" "0" "10" "17" "8141707" "8141707" "subst" "0.999988" "02325" "CTC1_000047" "g.8141707T>C" "" "" "" "CTC1(NM_025099.6):c.435+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8238389=" "" "benign" "" "0000274519" "0" "30" "17" "8137863" "8137863" "subst" "0.00128931" "01943" "CTC1_000044" "g.8137863C>T" "" "" "" "CTC1(NM_025099.5):c.1728G>A (p.(Pro576=)), CTC1(NM_025099.6):c.1728G>A (p.P576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8234545C>T" "" "likely benign" "" "0000274520" "0" "10" "17" "8137796" "8137796" "subst" "0.000768419" "01943" "CTC1_000043" "g.8137796G>A" "" "" "" "CTC1(NM_025099.6):c.1795C>T (p.P599S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8234478G>A" "" "benign" "" "0000274521" "0" "30" "17" "8135250" "8135250" "subst" "8.18746E-6" "01943" "CTC1_000042" "g.8135250G>T" "" "" "" "CTC1(NM_025099.6):c.2356C>A (p.P786T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8231932G>T" "" "likely benign" "" "0000274522" "0" "30" "17" "8134785" "8134785" "subst" "0.00135933" "01943" "CTC1_000040" "g.8134785T>C" "" "" "" "CTC1(NM_025099.5):c.2478A>G (p.(=)), CTC1(NM_025099.6):c.2478A>G (p.T826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8231467T>C" "" "likely benign" "" "0000274523" "0" "50" "17" "8133762" "8133762" "subst" "1.21973E-5" "01943" "CTC1_000038" "g.8133762C>T" "" "" "" "CTC1(NM_025099.6):c.2783G>A (p.C928Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8230444C>T" "" "VUS" "" "0000274524" "0" "30" "17" "8133650" "8133650" "subst" "0.00022357" "01943" "CTC1_000037" "g.8133650G>A" "" "" "" "CTC1(NM_025099.6):c.2895C>T (p.A965=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8230332G>A" "" "likely benign" "" "0000274525" "0" "30" "17" "8132146" "8132146" "subst" "4.8794E-5" "01943" "CTC1_000035" "g.8132146C>T" "" "" "" "CTC1(NM_025099.6):c.3286G>A (p.A1096T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8228828C>T" "" "likely benign" "" "0000274526" "0" "30" "17" "8131647" "8131647" "subst" "0.000126016" "01943" "CTC1_000033" "g.8131647G>A" "" "" "" "CTC1(NM_025099.6):c.3515-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8228329G>A" "" "likely benign" "" "0000274527" "0" "10" "17" "8141519" "8141519" "subst" "0.00420566" "01943" "CTC1_000046" "g.8141519C>A" "" "" "" "CTC1(NM_025099.6):c.477G>T (p.L159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8238201C>A" "" "benign" "" "0000274528" "0" "50" "17" "8141400" "8141400" "subst" "4.06296E-5" "01943" "CTC1_000045" "g.8141400G>A" "" "" "" "CTC1(NM_025099.6):c.596C>T (p.T199M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8238082G>A" "" "VUS" "" "0000325176" "0" "30" "17" "8132106" "8132106" "subst" "3.24973E-5" "01804" "CTC1_000034" "g.8132106T>C" "" "" "" "CTC1(NM_025099.5):c.3326A>G (p.(Asp1109Gly)), CTC1(NM_025099.6):c.3326A>G (p.D1109G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8228788T>C" "" "likely benign" "" "0000325177" "0" "30" "17" "8134785" "8134785" "subst" "0.00135933" "01804" "CTC1_000040" "g.8134785T>C" "" "" "" "CTC1(NM_025099.5):c.2478A>G (p.(=)), CTC1(NM_025099.6):c.2478A>G (p.T826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8231467T>C" "" "likely benign" "" "0000338808" "0" "10" "17" "8141707" "8141707" "subst" "0.999988" "02327" "CTC1_000047" "g.8141707T>C" "" "" "" "CTC1(NM_025099.6):c.435+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8238389=" "" "benign" "" "0000340482" "0" "30" "17" "8133900" "8133900" "subst" "1.62451E-5" "02327" "CTC1_000048" "g.8133900C>T" "" "" "" "CTC1(NM_025099.6):c.2739G>A (p.A913=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8230582C>T" "" "likely benign" "" "0000340483" "0" "50" "17" "8137863" "8137863" "subst" "0.00128931" "02327" "CTC1_000044" "g.8137863C>T" "" "" "" "CTC1(NM_025099.5):c.1728G>A (p.(Pro576=)), CTC1(NM_025099.6):c.1728G>A (p.P576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8234545C>T" "" "VUS" "" "0000340484" "0" "10" "17" "8139463" "8139463" "subst" "0.163149" "02327" "CTC1_000050" "g.8139463G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8236145G>A" "" "benign" "" "0000346542" "0" "10" "17" "8132763" "8132763" "subst" "0.738699" "02327" "CTC1_000036" "g.8132763T>C" "" "" "" "CTC1(NM_025099.6):c.3013A>G (p.I1005V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8229445T>C" "" "benign" "" "0000346809" "0" "10" "17" "8135061" "8135061" "subst" "0.94743" "02327" "CTC1_000041" "g.8135061T>C" "" "" "" "CTC1(NM_025099.6):c.2458A>G (p.I820V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8231743T>C" "" "benign" "" "0000349189" "0" "10" "17" "8141897" "8141897" "subst" "0.00885439" "02327" "CTC1_000052" "g.8141897C>G" "" "" "" "CTC1(NM_025099.5):c.248G>C (p.(Ser83Thr)), CTC1(NM_025099.6):c.248G>C (p.S83T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8238579C>G" "" "benign" "" "0000351381" "0" "90" "17" "8140760" "8140763" "del" "0" "02327" "CTC1_000051" "g.8140760_8140763del" "" "" "" "CTC1(NM_025099.6):c.724_727delAAAG (p.K242Lfs*41)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8237442_8237445del" "" "pathogenic" "" "0000354941" "0" "99" "17" "8135745" "8135745" "subst" "0.000203122" "00015" "CTC1_000015" "g.8135745A>C" "" "{PMID:Mansukhani et al. 2017:28864049}" "" "" "" "Unknown" "" "rs199473676" "0" "" "" "g.8232427A>C" "" "pathogenic" "" "0000355065" "0" "50" "17" "0" "0" "" "0" "00015" "CTC1_000000" "g.?" "" "{PMID:Xu 2017:28072696}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000440115" "0" "99" "17" "8133261" "8133261" "subst" "5.68648E-5" "00015" "CTC1_000006" "g.8133261G>A" "" "{PMID:Sargolzaeiaval et al. 2018:30393977}" "" "" "" "Germline" "yes" "rs202138550" "0" "" "" "g.8229943G>A" "" "pathogenic" "" "0000440116" "0" "99" "17" "8141823" "8141823" "subst" "4.06154E-6" "00015" "CTC1_000053" "g.8141823G>A" "" "{PMID:Sargolzaeiaval et al. 2018:30393977}" "" "" "" "Germline" "yes" "" "0" "" "" "g.8238505G>A" "" "pathogenic" "" "0000563796" "0" "50" "17" "8131628" "8131628" "subst" "7.31238E-5" "01943" "CTC1_000054" "g.8131628C>T" "" "" "" "CTC1(NM_025099.6):c.3524G>A (p.R1175Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8228310C>T" "" "VUS" "" "0000563797" "0" "30" "17" "8132106" "8132106" "subst" "3.24973E-5" "01943" "CTC1_000034" "g.8132106T>C" "" "" "" "CTC1(NM_025099.5):c.3326A>G (p.(Asp1109Gly)), CTC1(NM_025099.6):c.3326A>G (p.D1109G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8228788T>C" "" "likely benign" "" "0000563798" "0" "50" "17" "8132185" "8132185" "subst" "0.000207953" "02325" "CTC1_000055" "g.8132185C>T" "" "" "" "CTC1(NM_025099.6):c.3247G>A (p.E1083K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8228867C>T" "" "VUS" "" "0000563799" "0" "90" "17" "8132760" "8132760" "del" "0" "01943" "CTC1_000056" "g.8132760del" "" "" "" "CTC1(NM_025099.6):c.3019delC (p.L1007Cfs*62)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8229442del" "" "pathogenic" "" "0000563801" "0" "90" "17" "8133261" "8133261" "subst" "5.68648E-5" "02327" "CTC1_000006" "g.8133261G>A" "" "" "" "CTC1(NM_025099.6):c.2959C>T (p.R987W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8229943G>A" "" "pathogenic" "" "0000563802" "0" "30" "17" "8135444" "8135444" "subst" "0.0133611" "01804" "CTC1_000057" "g.8135444C>G" "" "" "" "CTC1(NM_025099.5):c.2162G>C (p.(Gly721Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8232126C>G" "" "likely benign" "" "0000563804" "0" "10" "17" "8136092" "8136092" "subst" "0" "02327" "CTC1_000059" "g.8136092C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8232774C>T" "" "benign" "" "0000563805" "0" "30" "17" "8136232" "8136232" "subst" "0" "01804" "CTC1_000060" "g.8136232C>A" "" "" "" "CTC1(NM_025099.5):c.1937G>T (p.(Arg646Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8232914C>A" "" "likely benign" "" "0000563806" "0" "30" "17" "8137863" "8137863" "subst" "9.8337E-5" "01943" "CTC1_000061" "g.8137863C>A" "" "" "" "CTC1(NM_025099.6):c.1728G>T (p.P576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8234545C>A" "" "likely benign" "" "0000563807" "0" "50" "17" "8137871" "8137871" "subst" "0.00119409" "01943" "CTC1_000062" "g.8137871G>A" "" "" "" "CTC1(NM_025099.6):c.1720C>T (p.P574S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8234553G>A" "" "VUS" "" "0000563809" "0" "30" "17" "8138109" "8138109" "subst" "0" "01943" "CTC1_000064" "g.8138109G>A" "" "" "" "CTC1(NM_025099.6):c.1575C>T (p.H525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8234791G>A" "" "likely benign" "" "0000563810" "0" "50" "17" "8138224" "8138224" "subst" "0" "01804" "CTC1_000065" "g.8138224C>G" "" "" "" "CTC1(NM_025099.5):c.1460G>C (p.(Arg487Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8234906C>G" "" "VUS" "" "0000563811" "0" "30" "17" "8138569" "8138569" "subst" "0.013087" "01804" "CTC1_000066" "g.8138569C>G" "" "" "" "CTC1(NM_025099.5):c.1241G>C (p.(Gly414Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8235251C>G" "" "likely benign" "" "0000563812" "0" "10" "17" "8139327" "8139327" "subst" "0.988431" "02327" "CTC1_000067" "g.8139327A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8236009A>G" "" "benign" "" "0000563813" "0" "30" "17" "8139451" "8139451" "subst" "6.50026E-5" "01943" "CTC1_000068" "g.8139451G>A" "" "" "" "CTC1(NM_025099.5):c.1002C>T (p.(=)), CTC1(NM_025099.6):c.1002C>T (p.L334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8236133G>A" "" "likely benign" "" "0000563814" "0" "30" "17" "8139483" "8139483" "subst" "0" "01943" "CTC1_000069" "g.8139483C>T" "" "" "" "CTC1(NM_025099.6):c.970G>A (p.G324R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8236165C>T" "" "likely benign" "" "0000563815" "0" "30" "17" "8139610" "8139610" "subst" "0.000114441" "01943" "CTC1_000070" "g.8139610A>G" "" "" "" "CTC1(NM_025099.6):c.843T>C (p.Y281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8236292A>G" "" "likely benign" "" "0000563817" "0" "10" "17" "8140790" "8140790" "subst" "0.00387824" "01943" "CTC1_000071" "g.8140790C>T" "" "" "" "CTC1(NM_025099.5):c.695G>A (p.(Arg232Gln)), CTC1(NM_025099.6):c.695G>A (p.R232Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8237472C>T" "" "benign" "" "0000563818" "0" "90" "17" "8140791" "8140791" "subst" "0" "02327" "CTC1_000072" "g.8140791G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8237473G>A" "" "pathogenic" "" "0000563819" "0" "30" "17" "8141366" "8141366" "subst" "2.84803E-5" "01943" "CTC1_000073" "g.8141366G>C" "" "" "" "CTC1(NM_025099.6):c.630C>G (p.S210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8238048G>C" "" "likely benign" "" "0000563820" "0" "50" "17" "8141528" "8141528" "subst" "0" "01943" "CTC1_000074" "g.8141528A>T" "" "" "" "CTC1(NM_025099.6):c.468T>A (p.H156Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8238210A>T" "" "VUS" "" "0000563821" "0" "50" "17" "8141548" "8141548" "subst" "1.23715E-5" "02325" "CTC1_000075" "g.8141548C>T" "" "" "" "CTC1(NM_025099.6):c.448G>A (p.D150N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8238230C>T" "" "VUS" "" "0000563822" "0" "30" "17" "8141897" "8141897" "subst" "0.00885439" "01804" "CTC1_000052" "g.8141897C>G" "" "" "" "CTC1(NM_025099.5):c.248G>C (p.(Ser83Thr)), CTC1(NM_025099.6):c.248G>C (p.S83T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8238579C>G" "" "likely benign" "" "0000563823" "0" "30" "17" "8141897" "8141897" "subst" "0.00885439" "02325" "CTC1_000052" "g.8141897C>G" "" "" "" "CTC1(NM_025099.5):c.248G>C (p.(Ser83Thr)), CTC1(NM_025099.6):c.248G>C (p.S83T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8238579C>G" "" "likely benign" "" "0000563824" "0" "30" "17" "8146313" "8146313" "subst" "0" "01943" "CTC1_000076" "g.8146313G>A" "" "" "" "CTC1(NM_025099.6):c.187C>T (p.L63F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8242995G>A" "" "likely benign" "" "0000563825" "0" "50" "17" "8151331" "8151331" "subst" "8.9285E-5" "01943" "CTC1_000077" "g.8151331G>T" "" "" "" "CTC1(NM_025099.6):c.24C>A (p.V8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8248013G>T" "" "VUS" "" "0000616938" "0" "90" "17" "8132641" "8132641" "del" "0" "02327" "CTC1_000078" "g.8132641del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8229323del" "" "pathogenic" "" "0000616939" "0" "30" "17" "8137863" "8137863" "subst" "0.00128931" "01804" "CTC1_000044" "g.8137863C>T" "" "" "" "CTC1(NM_025099.5):c.1728G>A (p.(Pro576=)), CTC1(NM_025099.6):c.1728G>A (p.P576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8234545C>T" "" "likely benign" "" "0000616940" "0" "30" "17" "8139451" "8139451" "subst" "6.50026E-5" "01804" "CTC1_000068" "g.8139451G>A" "" "" "" "CTC1(NM_025099.5):c.1002C>T (p.(=)), CTC1(NM_025099.6):c.1002C>T (p.L334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8236133G>A" "" "likely benign" "" "0000623798" "0" "30" "17" "8131647" "8131647" "subst" "0.000126016" "02326" "CTC1_000033" "g.8131647G>A" "" "" "" "CTC1(NM_025099.6):c.3515-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8228329G>A" "" "likely benign" "" "0000623799" "0" "90" "17" "8133622" "8133622" "subst" "6.96539E-5" "01943" "CTC1_000004" "g.8133622T>C" "" "" "" "CTC1(NM_025099.6):c.2923A>G (p.R975G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8230304T>C" "" "pathogenic" "" "0000623800" "0" "90" "17" "8138598" "8138598" "del" "0" "01943" "CTC1_000079" "g.8138598del" "" "" "" "CTC1(NM_025099.6):c.1213delG (p.D405Mfs*58)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8235280del" "" "pathogenic" "" "0000649760" "1" "50" "17" "8129411" "8129411" "subst" "0" "03575" "CTC1_000080" "g.8129411T>C" "14/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 heterozygous, no homozygous; {DB:CLININrs75503577}" "Germline" "" "rs75503577" "0" "" "" "g.8226093T>C" "" "VUS" "" "0000649761" "1" "30" "17" "8131455" "8131455" "subst" "0.0181838" "03575" "CTC1_000081" "g.8131455G>A" "21/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "21 heterozygous, no homozygous; {DB:CLININrs3027245}" "Germline" "" "rs3027245" "0" "" "" "g.8228137G>A" "" "likely benign" "" "0000658307" "0" "30" "17" "8132106" "8132106" "subst" "3.24973E-5" "02326" "CTC1_000034" "g.8132106T>C" "" "" "" "CTC1(NM_025099.5):c.3326A>G (p.(Asp1109Gly)), CTC1(NM_025099.6):c.3326A>G (p.D1109G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8228788T>C" "" "likely benign" "" "0000658308" "0" "50" "17" "8133925" "8133925" "subst" "1.21845E-5" "01943" "CTC1_000082" "g.8133925C>T" "" "" "" "CTC1(NM_025099.6):c.2714G>A (p.R905Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8230607C>T" "" "VUS" "" "0000658309" "0" "30" "17" "8146353" "8146353" "subst" "0.000874866" "02326" "CTC1_000083" "g.8146353G>A" "" "" "" "CTC1(NM_025099.6):c.147C>T (p.V49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8243035G>A" "" "likely benign" "" "0000681084" "0" "30" "17" "8135112" "8135112" "subst" "3.65533E-5" "01943" "CTC1_000084" "g.8135112A>C" "" "" "" "CTC1(NM_025099.6):c.2407T>G (p.S803A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681085" "0" "50" "17" "8135414" "8135414" "subst" "0.000441114" "01943" "CTC1_000085" "g.8135414C>T" "" "" "" "CTC1(NM_025099.6):c.2192G>A (p.R731Q, p.(Arg731Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681086" "0" "30" "17" "8141887" "8141887" "subst" "2.85132E-5" "02326" "CTC1_000086" "g.8141887C>T" "" "" "" "CTC1(NM_025099.6):c.258G>A (p.S86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692538" "0" "10" "17" "8135446" "8135446" "subst" "0.0301251" "01804" "CTC1_000087" "g.8135446G>A" "" "" "" "CTC1(NM_025099.5):c.2160C>T (p.(Thr720=)), CTC1(NM_025099.6):c.2160C>T (p.T720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692539" "0" "30" "17" "8138136" "8138136" "subst" "0.000122491" "02326" "CTC1_000088" "g.8138136C>T" "" "" "" "CTC1(NM_025099.6):c.1548G>A (p.P516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692540" "0" "50" "17" "8141440" "8141440" "subst" "0.000365598" "01943" "CTC1_000089" "g.8141440C>G" "" "" "" "CTC1(NM_025099.6):c.556G>C (p.V186L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692541" "0" "30" "17" "8146353" "8146353" "subst" "0.000874866" "01943" "CTC1_000083" "g.8146353G>A" "" "" "" "CTC1(NM_025099.6):c.147C>T (p.V49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000704178" "0" "90" "17" "8133261" "8133261" "subst" "5.68648E-5" "01807" "CTC1_000006" "g.8133261G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000704179" "0" "90" "17" "8140815" "8140815" "subst" "8.12301E-6" "01807" "CTC1_000090" "g.8140815G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000726795" "0" "30" "17" "8132784" "8132785" "del" "0" "02326" "CTC1_000091" "g.8132784_8132785del" "" "" "" "CTC1(NM_025099.6):c.3012-20_3012-19delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726796" "0" "10" "17" "8138427" "8138427" "subst" "0.0105323" "01804" "CTC1_000092" "g.8138427C>T" "" "" "" "CTC1(NM_025099.5):c.1383G>A (p.(Gln461=)), CTC1(NM_025099.6):c.1383G>A (p.Q461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000726797" "0" "30" "17" "8139215" "8139215" "subst" "6.09439E-5" "02326" "CTC1_000093" "g.8139215C>A" "" "" "" "CTC1(NM_025099.6):c.1140G>T (p.G380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726798" "0" "30" "17" "8139451" "8139451" "subst" "6.50026E-5" "02326" "CTC1_000068" "g.8139451G>A" "" "" "" "CTC1(NM_025099.5):c.1002C>T (p.(=)), CTC1(NM_025099.6):c.1002C>T (p.L334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726799" "0" "50" "17" "8141512" "8141512" "subst" "1.6292E-5" "01943" "CTC1_000094" "g.8141512G>A" "" "" "" "CTC1(NM_025099.6):c.484C>T (p.R162C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000786831" "0" "90" "17" "8139384" "8139397" "delins" "0" "00006" "CTC1_000096" "g.8139384_8139397delinsG" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.8236066_8236079delinsG" "" "pathogenic" "" "0000787465" "0" "50" "17" "8137918" "8137918" "subst" "4.56163E-5" "00000" "CTC1_000095" "g.8137918T>C" "" "0" "" "" "" "Germline" "" "rs371121503" "0" "" "" "g.8234600T>C" "" "VUS" "" "0000808358" "0" "50" "17" "8132185" "8132185" "subst" "0.000207953" "01943" "CTC1_000055" "g.8132185C>T" "" "" "" "CTC1(NM_025099.6):c.3247G>A (p.E1083K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808359" "0" "30" "17" "8133889" "8133889" "subst" "0" "01943" "CTC1_000097" "g.8133889A>C" "" "" "" "CTC1(NM_025099.6):c.2750T>G (p.M917R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808360" "0" "30" "17" "8134752" "8134752" "subst" "0" "01943" "CTC1_000098" "g.8134752G>A" "" "" "" "CTC1(NM_025099.6):c.2511C>T (p.C837=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808361" "0" "50" "17" "8138099" "8138099" "subst" "0.000108984" "01943" "CTC1_000099" "g.8138099G>T" "" "" "" "CTC1(NM_025099.6):c.1585C>A (p.L529I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808362" "0" "30" "17" "8138607" "8138607" "subst" "0.000399941" "01943" "CTC1_000100" "g.8138607G>A" "" "" "" "CTC1(NM_025099.6):c.1207-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808363" "0" "50" "17" "8140698" "8140698" "subst" "8.12354E-6" "01943" "CTC1_000101" "g.8140698C>T" "" "" "" "CTC1(NM_025099.6):c.787G>A (p.V263M, p.(Val263Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808364" "0" "50" "17" "8146361" "8146361" "subst" "4.06686E-5" "01943" "CTC1_000102" "g.8146361T>C" "" "" "" "CTC1(NM_025099.6):c.139A>G (p.K47E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808365" "0" "50" "17" "8151342" "8151342" "subst" "0.000287224" "01943" "CTC1_000103" "g.8151342G>A" "" "" "" "CTC1(NM_025099.6):c.13C>T (p.R5W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817622" "1" "70" "17" "8133261" "8133261" "subst" "5.68648E-5" "00000" "CTC1_000006" "g.8133261G>A" "" "{PMID:Zanolli 2020:32141364}" "" "CTC1 c.2959C>T; c.248_251dupGCCA" "no protein change given, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.8229943G>A" "" "likely pathogenic" "" "0000817623" "2" "70" "17" "8141896" "8141899" "dup" "0" "00000" "CTC1_000104" "g.8141896_8141899dup" "" "{PMID:Zanolli 2020:32141364}" "" "CTC1 c.2959C>T; c.248_251dupGCCA" "no protein change given, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.8238578_8238581dup" "" "likely pathogenic" "" "0000855183" "0" "50" "17" "8133284" "8133284" "subst" "0" "01943" "CTC1_000106" "g.8133284G>A" "" "" "" "CTC1(NM_025099.6):c.2936C>T (p.S979F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855184" "0" "10" "17" "8135146" "8135146" "subst" "0.0309608" "02329" "CTC1_000107" "g.8135146A>C" "" "" "" "CTC1(NM_025099.6):c.2386-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855185" "0" "10" "17" "8135446" "8135446" "subst" "0.0301251" "02329" "CTC1_000087" "g.8135446G>A" "" "" "" "CTC1(NM_025099.5):c.2160C>T (p.(Thr720=)), CTC1(NM_025099.6):c.2160C>T (p.T720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855186" "0" "30" "17" "8138517" "8138517" "subst" "2.03239E-5" "02326" "CTC1_000108" "g.8138517A>G" "" "" "" "CTC1(NM_025099.6):c.1293T>C (p.L431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865575" "0" "30" "17" "8131837" "8131837" "subst" "0" "01943" "CTC1_000105" "g.8131837C>A" "" "" "" "CTC1(NM_025099.6):c.3498G>T (p.S1166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865576" "0" "90" "17" "8133622" "8133622" "subst" "6.96539E-5" "02326" "CTC1_000004" "g.8133622T>C" "" "" "" "CTC1(NM_025099.6):c.2923A>G (p.R975G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865577" "0" "30" "17" "8138427" "8138427" "subst" "0.0105323" "02329" "CTC1_000092" "g.8138427C>T" "" "" "" "CTC1(NM_025099.5):c.1383G>A (p.(Gln461=)), CTC1(NM_025099.6):c.1383G>A (p.Q461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865578" "0" "30" "17" "8141399" "8141399" "subst" "0.000190956" "01943" "CTC1_000109" "g.8141399C>T" "" "" "" "CTC1(NM_025099.6):c.597G>A (p.T199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865579" "0" "30" "17" "8141762" "8141762" "subst" "0" "01943" "CTC1_000110" "g.8141762C>A" "" "" "" "CTC1(NM_025099.6):c.383G>T (p.C128F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865580" "0" "10" "17" "8141779" "8141779" "subst" "0.00522665" "01804" "CTC1_000111" "g.8141779T>C" "" "" "" "CTC1(NM_025099.5):c.366A>G (p.(Ala122=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865581" "0" "30" "17" "8146288" "8146288" "subst" "0.00220686" "02326" "CTC1_000112" "g.8146288G>A" "" "" "" "CTC1(NM_025099.6):c.197+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894367" "0" "10" "17" "8133247" "8133247" "subst" "0.00242874" "02326" "CTC1_000113" "g.8133247A>G" "" "" "" "CTC1(NM_025099.6):c.2973T>C (p.Y991=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894368" "0" "90" "17" "8133261" "8133261" "subst" "5.68648E-5" "02326" "CTC1_000006" "g.8133261G>A" "" "" "" "CTC1(NM_025099.6):c.2959C>T (p.R987W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894369" "0" "10" "17" "8135452" "8135452" "subst" "0.00292982" "02326" "CTC1_000058" "g.8135452A>T" "" "" "" "CTC1(NM_025099.6):c.2154T>A (p.D718E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894370" "0" "10" "17" "8137796" "8137796" "subst" "0.000768419" "02329" "CTC1_000043" "g.8137796G>A" "" "" "" "CTC1(NM_025099.6):c.1795C>T (p.P599S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894371" "0" "30" "17" "8137863" "8137863" "subst" "0.00128931" "02326" "CTC1_000044" "g.8137863C>T" "" "" "" "CTC1(NM_025099.5):c.1728G>A (p.(Pro576=)), CTC1(NM_025099.6):c.1728G>A (p.P576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894372" "0" "30" "17" "8138142" "8138142" "subst" "8.15308E-6" "02326" "CTC1_000114" "g.8138142T>C" "" "" "" "CTC1(NM_025099.6):c.1542A>G (p.L514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894373" "0" "30" "17" "8138574" "8138574" "subst" "0" "02326" "CTC1_000115" "g.8138574C>A" "" "" "" "CTC1(NM_025099.6):c.1236G>T (p.V412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894374" "0" "30" "17" "8138607" "8138607" "subst" "0.000399941" "02329" "CTC1_000100" "g.8138607G>A" "" "" "" "CTC1(NM_025099.6):c.1207-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894375" "0" "90" "17" "8140760" "8140763" "del" "0" "02329" "CTC1_000022" "g.8140760_8140763del" "" "" "" "CTC1(NM_025099.6):c.724_727delAAAG (p.K242Lfs*41)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894376" "0" "30" "17" "8140822" "8140822" "subst" "0.00135668" "02329" "CTC1_000116" "g.8140822A>G" "" "" "" "CTC1(NM_025099.6):c.663T>C (p.G221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894377" "0" "30" "17" "8141399" "8141399" "subst" "0.000190956" "02326" "CTC1_000109" "g.8141399C>T" "" "" "" "CTC1(NM_025099.6):c.597G>A (p.T199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894378" "0" "30" "17" "8141519" "8141519" "subst" "0.00420566" "02326" "CTC1_000046" "g.8141519C>A" "" "" "" "CTC1(NM_025099.6):c.477G>T (p.L159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894379" "0" "30" "17" "8146311" "8146311" "subst" "0.00073024" "02326" "CTC1_000117" "g.8146311G>C" "" "" "" "CTC1(NM_025099.6):c.189C>G (p.L63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915002" "0" "30" "17" "8137871" "8137871" "subst" "0.00119409" "02326" "CTC1_000062" "g.8137871G>A" "" "" "" "CTC1(NM_025099.6):c.1720C>T (p.P574S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915003" "0" "30" "17" "8138432" "8138432" "subst" "2.84428E-5" "02326" "CTC1_000118" "g.8138432G>A" "" "" "" "CTC1(NM_025099.6):c.1378C>T (p.R460C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915004" "0" "10" "17" "8138503" "8138503" "subst" "0.00353587" "02326" "CTC1_000119" "g.8138503C>T" "" "" "" "CTC1(NM_025099.6):c.1307G>A (p.R436H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926683" "0" "30" "17" "8131517" "8131517" "subst" "0" "02326" "CTC1_000120" "g.8131517A>T" "" "" "" "CTC1(NM_025099.6):c.3635T>A (p.I1212N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926684" "0" "50" "17" "8131548" "8131548" "subst" "0.000312812" "02326" "CTC1_000121" "g.8131548G>A" "" "" "" "CTC1(NM_025099.6):c.3604C>T (p.(Arg1202Ter), p.R1202*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926685" "0" "30" "17" "8133200" "8133200" "subst" "0" "02326" "CTC1_000122" "g.8133200G>A" "" "" "" "CTC1(NM_025099.6):c.3011+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926686" "0" "30" "17" "8133900" "8133900" "subst" "1.62451E-5" "02329" "CTC1_000048" "g.8133900C>T" "" "" "" "CTC1(NM_025099.6):c.2739G>A (p.A913=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926687" "0" "30" "17" "8138156" "8138156" "subst" "4.48248E-5" "02326" "CTC1_000123" "g.8138156T>C" "" "" "" "CTC1(NM_025099.6):c.1528A>G (p.T510A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926688" "0" "30" "17" "8141449" "8141449" "subst" "2.03107E-5" "02326" "CTC1_000124" "g.8141449C>A" "" "" "" "CTC1(NM_025099.6):c.547G>T (p.D183Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926689" "0" "30" "17" "8141912" "8141912" "subst" "0.000705809" "02326" "CTC1_000125" "g.8141912C>T" "" "" "" "CTC1(NM_025099.6):c.233G>A (p.R78H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930910" "0" "90" "17" "8133622" "8133622" "subst" "6.96539E-5" "02327" "CTC1_000004" "g.8133622T>C" "" "" "" "CTC1(NM_025099.6):c.2923A>G (p.R975G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930911" "0" "30" "17" "8139428" "8139428" "subst" "0.00319812" "02326" "CTC1_000126" "g.8139428T>C" "" "" "" "CTC1(NM_025099.5):c.1025A>G (p.(Asp342Gly)), CTC1(NM_025099.6):c.1025A>G (p.D342G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930912" "0" "30" "17" "8140790" "8140790" "subst" "0.00387824" "02326" "CTC1_000071" "g.8140790C>T" "" "" "" "CTC1(NM_025099.5):c.695G>A (p.(Arg232Gln)), CTC1(NM_025099.6):c.695G>A (p.R232Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930913" "0" "30" "17" "8146374" "8146374" "subst" "0.00320753" "02326" "CTC1_000127" "g.8146374T>C" "" "" "" "CTC1(NM_025099.6):c.126A>G (p.V42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951078" "0" "30" "17" "8138056" "8138056" "subst" "0.00139234" "02326" "CTC1_000128" "g.8138056C>T" "" "" "" "CTC1(NM_025099.6):c.1617+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982928" "0" "50" "17" "8131548" "8131548" "subst" "0.000312812" "01804" "CTC1_000121" "g.8131548G>A" "" "" "" "CTC1(NM_025099.6):c.3604C>T (p.(Arg1202Ter), p.R1202*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982929" "0" "30" "17" "8137857" "8137857" "subst" "0.000200782" "01804" "CTC1_000129" "g.8137857G>A" "" "" "" "CTC1(NM_025099.6):c.1734C>T (p.(Ala578=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982930" "0" "50" "17" "8138120" "8138120" "subst" "8.19545E-5" "01804" "CTC1_000130" "g.8138120G>A" "" "" "" "CTC1(NM_025099.6):c.1564C>T (p.(Arg522Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982931" "0" "50" "17" "8139237" "8139237" "subst" "0" "01804" "CTC1_000131" "g.8139237T>C" "" "" "" "CTC1(NM_025099.6):c.1118A>G (p.(Tyr373Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003883" "0" "50" "17" "8136302" "8136302" "subst" "0" "01804" "CTC1_000132" "g.8136302G>T" "" "" "" "CTC1(NM_025099.5):c.1867C>A (p.(Leu623Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003884" "0" "30" "17" "8139428" "8139428" "subst" "0.00319812" "01804" "CTC1_000126" "g.8139428T>C" "" "" "" "CTC1(NM_025099.5):c.1025A>G (p.(Asp342Gly)), CTC1(NM_025099.6):c.1025A>G (p.D342G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003885" "0" "30" "17" "8140790" "8140790" "subst" "0.00387824" "01804" "CTC1_000071" "g.8140790C>T" "" "" "" "CTC1(NM_025099.5):c.695G>A (p.(Arg232Gln)), CTC1(NM_025099.6):c.695G>A (p.R232Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027081" "0" "30" "17" "8139451" "8139451" "subst" "6.50026E-5" "02329" "CTC1_000068" "g.8139451G>A" "" "" "" "CTC1(NM_025099.5):c.1002C>T (p.(=)), CTC1(NM_025099.6):c.1002C>T (p.L334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027082" "0" "30" "17" "8141897" "8141897" "subst" "0.00885439" "02329" "CTC1_000052" "g.8141897C>G" "" "" "" "CTC1(NM_025099.5):c.248G>C (p.(Ser83Thr)), CTC1(NM_025099.6):c.248G>C (p.S83T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042306" "0" "50" "17" "8134757" "8134757" "subst" "0.000106067" "01804" "CTC1_000039" "g.8134757A>G" "" "" "" "CTC1(NM_025099.6):c.2506T>C (p.S836P, p.(Ser836Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042307" "0" "50" "17" "8135414" "8135414" "subst" "0.000441114" "01804" "CTC1_000085" "g.8135414C>T" "" "" "" "CTC1(NM_025099.6):c.2192G>A (p.R731Q, p.(Arg731Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042308" "0" "50" "17" "8135414" "8135414" "subst" "0.000441114" "02325" "CTC1_000085" "g.8135414C>T" "" "" "" "CTC1(NM_025099.6):c.2192G>A (p.R731Q, p.(Arg731Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042309" "0" "50" "17" "8138546" "8138546" "subst" "4.88337E-5" "01804" "CTC1_000133" "g.8138546C>T" "" "" "" "CTC1(NM_025099.6):c.1264G>A (p.(Ala422Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055834" "0" "30" "17" "8132206" "8132206" "subst" "0" "01804" "CTC1_000134" "g.8132206G>A" "" "" "" "CTC1(NM_025099.6):c.3226C>T (p.(Leu1076=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055835" "0" "50" "17" "8140698" "8140698" "subst" "8.12354E-6" "01804" "CTC1_000101" "g.8140698C>T" "" "" "" "CTC1(NM_025099.6):c.787G>A (p.V263M, p.(Val263Met))" "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 CTC1 ## Count = 214 "{{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}}" "0000017119" "00001799" "99" "2831" "0" "2831" "0" "c.2831dup" "r.(?)" "p.(His945Serfs*56)" "17" "0000017120" "00001799" "77" "3011" "4" "3011" "4" "c.3011+4A>C" "r.(?)" "p.(=)" "18i" "0000017121" "00001799" "99" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Gln241*)" "5" "0000017122" "00001799" "99" "2923" "0" "2923" "0" "c.2923A>G" "r.(?)" "p.(Arg975Gly)" "17" "0000017123" "00001799" "99" "724" "0" "727" "0" "c.724_727del" "r.(?)" "p.(Lys242Leufs*41)" "5" "0000017124" "00001799" "99" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987Trp)" "18" "0000017125" "00001799" "99" "724" "0" "727" "0" "c.724_727del" "r.(?)" "p.(Lys242Leufs*41)" "5" "0000017126" "00001799" "99" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987Trp)" "18" "0000017127" "00001799" "99" "724" "0" "727" "0" "c.724_727del" "r.(?)" "p.(Lys242Leufs*41)" "5" "0000017128" "00001799" "99" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987Trp)" "18" "0000017129" "00001799" "99" "724" "0" "727" "0" "c.724_727del" "r.(?)" "p.(Lys242Leufs*41)" "5" "0000017130" "00001799" "99" "2611" "0" "2611" "0" "c.2611G>A" "r.(?)" "p.(Val871Met)" "15" "0000017131" "00001799" "99" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Gln7*)" "1" "0000017132" "00001799" "99" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987Trp)" "18" "0000017133" "00001799" "99" "775" "0" "775" "0" "c.775G>A" "r.(?)" "p.(Val259Met)" "5" "0000017134" "00001799" "99" "2518" "0" "2518" "0" "c.2518C>T" "r.(?)" "p.(Arg840Trp)" "15" "0000017135" "00001799" "99" "775" "0" "775" "0" "c.775G>A" "r.(?)" "p.(Val259Met)" "5" "0000017136" "00001799" "99" "2518" "0" "2518" "0" "c.2518C>T" "r.(?)" "p.(Arg840Trp)" "15" "0000017137" "00001799" "99" "724" "0" "727" "0" "c.724_727del" "r.(?)" "p.(Lys242Leufs*41)" "5" "0000017138" "00001799" "99" "1507" "0" "1507" "0" "c.1507G>C" "r.(?)" "p.(Gly503Arg)" "9" "0000017141" "00001799" "99" "2954" "0" "2956" "0" "c.2954_2956del" "r.(?)" "p.(Cys985del)" "18" "0000017142" "00001799" "99" "3586" "0" "3606" "0" "c.3586_3606del" "r.(?)" "p.(Leu1196_Arg1202del)" "23" "0000017145" "00001799" "99" "1994" "0" "1994" "0" "c.1994T>G" "r.(?)" "p.(Val665Gly)" "12" "0000017146" "00001799" "99" "2831" "0" "2831" "0" "c.2831del" "r.(?)" "p.(Pro944Leufs*7)" "17" "0000017147" "00001799" "99" "1994" "0" "1994" "0" "c.1994T>G" "r.(?)" "p.(Val665Gly)" "12" "0000017148" "00001799" "99" "2831" "0" "2831" "0" "c.2831del" "r.(?)" "p.(Pro944Leufs*7)" "17" "0000017149" "00001799" "99" "1994" "0" "1994" "0" "c.1994T>G" "r.(?)" "p.(Val665Gly)" "12" "0000017150" "00001799" "99" "2831" "0" "2831" "0" "c.2831del" "r.(?)" "p.(Pro944Leufs*7)" "17" "0000017151" "00001799" "99" "1994" "0" "1994" "0" "c.1994T>G" "r.(?)" "p.(Val665Gly)" "12" "0000017152" "00001799" "99" "2831" "0" "2831" "0" "c.2831del" "r.(?)" "p.(Pro944Leufs*7)" "17" "0000017153" "00001799" "99" "1994" "0" "1994" "0" "c.1994T>G" "r.(?)" "p.(Val665Gly)" "12" "0000017154" "00001799" "99" "3425" "0" "3426" "0" "c.3425_3426delinsAT" "r.(?)" "p.(Leu1142His)" "22" "0000017155" "00001799" "99" "1994" "0" "1994" "0" "c.1994T>G" "r.(?)" "p.(Val665Gly)" "12" "0000017156" "00001799" "99" "3583" "0" "3583" "0" "c.3583C>T" "r.(?)" "p.(Arg1195*)" "23" "0000017157" "00001799" "99" "1994" "0" "1994" "0" "c.1994T>G" "r.(?)" "p.(Val665Gly)" "12" "0000017158" "00001799" "99" "3019" "0" "3019" "0" "c.3019del" "r.(?)" "p.(Leu1007Cysfs*62)" "19" "0000017159" "00001799" "99" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "5" "0000017160" "00001799" "99" "2831" "0" "2831" "0" "c.2831del" "r.(?)" "p.(Pro944Leufs*7)" "17" "0000017161" "00001799" "99" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "5" "0000017162" "00001799" "99" "2831" "0" "2831" "0" "c.2831del" "r.(?)" "p.(Pro944Leufs*7)" "17" "0000017163" "00001799" "99" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "5" "0000017164" "00001799" "99" "1058" "0" "1058" "0" "c.1058del" "r.(?)" "p.(Ser353Leufs*14)" "6" "0000017165" "00001799" "99" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "5" "0000017166" "00001799" "99" "1058" "0" "1058" "0" "c.1058del" "r.(?)" "p.(Ser353Leufs*14)" "6" "0000017167" "00001799" "99" "724" "0" "727" "0" "c.724_727del" "r.(?)" "p.(Lys242Leufs*41)" "5" "0000017168" "00001799" "99" "2923" "0" "2923" "0" "c.2923A>G" "r.(?)" "p.(Arg975Gly)" "17" "0000017173" "00001799" "99" "775" "0" "775" "0" "c.775G>A" "r.(?)" "p.(Val259Met)" "5" "0000017174" "00001799" "99" "1213" "0" "1213" "0" "c.1213del" "r.(?)" "p.(Asp405Metfs*58)" "8" "0000017178" "00001799" "99" "724" "0" "727" "0" "c.724_727del" "r.(?)" "p.(Lys242Leufs*41)" "5" "0000017179" "00001799" "99" "2954" "0" "2956" "0" "c.2954_2956del" "r.(?)" "p.(Cys985del)" "18" "0000017181" "00001799" "97" "740" "0" "740" "0" "c.740T>C" "r.(?)" "p.(Leu247Pro)" "5" "0000017182" "00001799" "97" "833" "0" "833" "0" "c.833G>T" "r.(?)" "p.(Gly278Val)" "6" "0000017183" "00001799" "99" "724" "0" "727" "0" "c.724_727del" "r.(?)" "p.(Lys242Leufs*41)" "5" "0000017184" "00001799" "99" "2954" "0" "2956" "0" "c.2954_2956del" "r.(?)" "p.(Cys985del)" "18" "0000017185" "00001799" "99" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Gln241*)" "5" "0000017186" "00001799" "99" "2923" "0" "2923" "0" "c.2923A>G" "r.(?)" "p.(Arg975Gly)" "18" "0000017187" "00001799" "99" "1383" "0" "1389" "0" "c.1383_1389dup" "r.(?)" "p.(Leu464Valfs*66)" "8" "0000017188" "00001799" "99" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987Trp)" "18" "0000017189" "00001799" "99" "1270" "0" "1270" "0" "c.1270T>G" "r.(?)" "p.(Cys424Gly)" "8" "0000017190" "00001799" "99" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987Trp)" "18" "0000017191" "00001799" "99" "1270" "0" "1270" "0" "c.1270T>G" "r.(?)" "p.(Cys424Gly)" "8" "0000017192" "00001799" "99" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987Trp)" "18" "0000017193" "00001799" "99" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287*)" "6" "0000017194" "00001799" "99" "2954" "0" "2956" "0" "c.2954_2956del" "r.(?)" "p.(Cys985del)" "18" "0000061758" "00001799" "77" "2758" "1" "2758" "1" "c.2758+1G>T" "r.spl?" "p.?" "i16" "0000061759" "00001799" "99" "2954" "0" "2956" "0" "c.2954_2956del" "r.(?)" "p.(Cys985del)" "18" "0000064811" "00001799" "99" "833" "0" "833" "0" "c.833G>T" "r.(?)" "p.(Gly278Val)" "6" "0000064812" "00001799" "77" "841" "0" "841" "0" "c.841T>C" "r.(?)" "p.(Tyr281His)" "6" "0000065312" "00001799" "99" "1451" "0" "1451" "0" "c.1451A>C" "r.(?)" "p.(His484Pro)" "9" "0000256521" "00001799" "50" "2506" "0" "2506" "0" "c.2506T>C" "r.(?)" "p.(Ser836Pro)" "" "0000267164" "00001799" "10" "2458" "0" "2458" "0" "c.2458A>G" "r.(?)" "p.(Ile820Val)" "" "0000267165" "00001799" "10" "3013" "0" "3013" "0" "c.3013A>G" "r.(?)" "p.(Ile1005Val)" "" "0000267166" "00001799" "10" "435" "3" "435" "3" "c.435+3A>G" "r.spl?" "p.?" "" "0000274519" "00001799" "30" "1728" "0" "1728" "0" "c.1728G>A" "r.(?)" "p.(Pro576=)" "" "0000274520" "00001799" "10" "1795" "0" "1795" "0" "c.1795C>T" "r.(?)" "p.(Pro599Ser)" "" "0000274521" "00001799" "30" "2356" "0" "2356" "0" "c.2356C>A" "r.(?)" "p.(Pro786Thr)" "" "0000274522" "00001799" "30" "2478" "0" "2478" "0" "c.2478A>G" "r.(?)" "p.(Thr826=)" "" "0000274523" "00001799" "50" "2783" "0" "2783" "0" "c.2783G>A" "r.(?)" "p.(Cys928Tyr)" "" "0000274524" "00001799" "30" "2895" "0" "2895" "0" "c.2895C>T" "r.(?)" "p.(Ala965=)" "" "0000274525" "00001799" "30" "3286" "0" "3286" "0" "c.3286G>A" "r.(?)" "p.(Ala1096Thr)" "" "0000274526" "00001799" "30" "3515" "-10" "3515" "-10" "c.3515-10C>T" "r.(=)" "p.(=)" "" "0000274527" "00001799" "10" "477" "0" "477" "0" "c.477G>T" "r.(?)" "p.(Leu159=)" "" "0000274528" "00001799" "50" "596" "0" "596" "0" "c.596C>T" "r.(?)" "p.(Thr199Met)" "" "0000325176" "00001799" "30" "3326" "0" "3326" "0" "c.3326A>G" "r.(?)" "p.(Asp1109Gly)" "" "0000325177" "00001799" "30" "2478" "0" "2478" "0" "c.2478A>G" "r.(?)" "p.(Thr826=)" "" "0000338808" "00001799" "10" "435" "3" "435" "3" "c.435+3A>G" "r.spl?" "p.?" "" "0000340482" "00001799" "30" "2739" "0" "2739" "0" "c.2739G>A" "r.(?)" "p.(Ala913=)" "" "0000340483" "00001799" "50" "1728" "0" "1728" "0" "c.1728G>A" "r.(?)" "p.(Pro576=)" "" "0000340484" "00001799" "10" "990" "0" "990" "0" "c.990C>T" "r.(?)" "p.(Asp330=)" "" "0000346542" "00001799" "10" "3013" "0" "3013" "0" "c.3013A>G" "r.(?)" "p.(Ile1005Val)" "" "0000346809" "00001799" "10" "2458" "0" "2458" "0" "c.2458A>G" "r.(?)" "p.(Ile820Val)" "" "0000349189" "00001799" "10" "248" "0" "248" "0" "c.248G>C" "r.(?)" "p.(Ser83Thr)" "" "0000351381" "00001799" "90" "724" "0" "727" "0" "c.724_727del" "r.(?)" "p.(Lys242LeufsTer41)" "" "0000354941" "00001799" "99" "1994" "0" "1994" "0" "c.1994T>G" "r.(?)" "p.(Val665Gly)" "" "0000355065" "00001799" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000440115" "00001799" "99" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987Trp)" "18" "0000440116" "00001799" "99" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108*)" "" "0000563796" "00001799" "50" "3524" "0" "3524" "0" "c.3524G>A" "r.(?)" "p.(Arg1175Gln)" "" "0000563797" "00001799" "30" "3326" "0" "3326" "0" "c.3326A>G" "r.(?)" "p.(Asp1109Gly)" "" "0000563798" "00001799" "50" "3247" "0" "3247" "0" "c.3247G>A" "r.(?)" "p.(Glu1083Lys)" "" "0000563799" "00001799" "90" "3019" "0" "3019" "0" "c.3019del" "r.(?)" "p.(Leu1007CysfsTer62)" "" "0000563801" "00001799" "90" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987Trp)" "" "0000563802" "00001799" "30" "2162" "0" "2162" "0" "c.2162G>C" "r.(?)" "p.(Gly721Ala)" "" "0000563804" "00001799" "10" "1945" "132" "1945" "132" "c.1945+132G>A" "r.(=)" "p.(=)" "" "0000563805" "00001799" "30" "1937" "0" "1937" "0" "c.1937G>T" "r.(?)" "p.(Arg646Leu)" "" "0000563806" "00001799" "30" "1728" "0" "1728" "0" "c.1728G>T" "r.(?)" "p.(Pro576=)" "" "0000563807" "00001799" "50" "1720" "0" "1720" "0" "c.1720C>T" "r.(?)" "p.(Pro574Ser)" "" "0000563809" "00001799" "30" "1575" "0" "1575" "0" "c.1575C>T" "r.(?)" "p.(His525=)" "" "0000563810" "00001799" "50" "1460" "0" "1460" "0" "c.1460G>C" "r.(?)" "p.(Arg487Thr)" "" "0000563811" "00001799" "30" "1241" "0" "1241" "0" "c.1241G>C" "r.(?)" "p.(Gly414Ala)" "" "0000563812" "00001799" "10" "1077" "49" "1077" "49" "c.1077+49T>C" "r.(=)" "p.(=)" "" "0000563813" "00001799" "30" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(Leu334=)" "" "0000563814" "00001799" "30" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Arg)" "" "0000563815" "00001799" "30" "843" "0" "843" "0" "c.843T>C" "r.(?)" "p.(Tyr281=)" "" "0000563817" "00001799" "10" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Arg232Gln)" "" "0000563818" "00001799" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232Ter)" "" "0000563819" "00001799" "30" "630" "0" "630" "0" "c.630C>G" "r.(?)" "p.(Ser210=)" "" "0000563820" "00001799" "50" "468" "0" "468" "0" "c.468T>A" "r.(?)" "p.(His156Gln)" "" "0000563821" "00001799" "50" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Asp150Asn)" "" "0000563822" "00001799" "30" "248" "0" "248" "0" "c.248G>C" "r.(?)" "p.(Ser83Thr)" "" "0000563823" "00001799" "30" "248" "0" "248" "0" "c.248G>C" "r.(?)" "p.(Ser83Thr)" "" "0000563824" "00001799" "30" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Leu63Phe)" "" "0000563825" "00001799" "50" "24" "0" "24" "0" "c.24C>A" "r.(?)" "p.(Val8=)" "" "0000616938" "00001799" "90" "3136" "0" "3136" "0" "c.3136del" "r.(?)" "p.(Cys1046ValfsTer23)" "" "0000616939" "00001799" "30" "1728" "0" "1728" "0" "c.1728G>A" "r.(?)" "p.(Pro576=)" "" "0000616940" "00001799" "30" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(Leu334=)" "" "0000623798" "00001799" "30" "3515" "-10" "3515" "-10" "c.3515-10C>T" "r.(=)" "p.(=)" "" "0000623799" "00001799" "90" "2923" "0" "2923" "0" "c.2923A>G" "r.(?)" "p.(Arg975Gly)" "" "0000623800" "00001799" "90" "1213" "0" "1213" "0" "c.1213del" "r.(?)" "p.(Asp405MetfsTer58)" "" "0000649760" "00001799" "50" "5741" "0" "5741" "0" "c.*2087A>G" "r.(=)" "p.(=)" "" "0000649761" "00001799" "30" "3697" "0" "3697" "0" "c.*43C>T" "r.(=)" "p.(=)" "" "0000658307" "00001799" "30" "3326" "0" "3326" "0" "c.3326A>G" "r.(?)" "p.(Asp1109Gly)" "" "0000658308" "00001799" "50" "2714" "0" "2714" "0" "c.2714G>A" "r.(?)" "p.(Arg905Gln)" "" "0000658309" "00001799" "30" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(Val49=)" "" "0000681084" "00001799" "30" "2407" "0" "2407" "0" "c.2407T>G" "r.(?)" "p.(Ser803Ala)" "" "0000681085" "00001799" "50" "2192" "0" "2192" "0" "c.2192G>A" "r.(?)" "p.(Arg731Gln)" "" "0000681086" "00001799" "30" "258" "0" "258" "0" "c.258G>A" "r.(?)" "p.(Ser86=)" "" "0000692538" "00001799" "10" "2160" "0" "2160" "0" "c.2160C>T" "r.(?)" "p.(Thr720=)" "" "0000692539" "00001799" "30" "1548" "0" "1548" "0" "c.1548G>A" "r.(?)" "p.(Pro516=)" "" "0000692540" "00001799" "50" "556" "0" "556" "0" "c.556G>C" "r.(?)" "p.(Val186Leu)" "" "0000692541" "00001799" "30" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(Val49=)" "" "0000704178" "00001799" "90" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987Trp)" "" "0000704179" "00001799" "90" "670" "0" "670" "0" "c.670C>T" "r.(?)" "p.(Arg224Ter)" "" "0000726795" "00001799" "30" "3012" "-20" "3012" "-19" "c.3012-20_3012-19del" "r.(=)" "p.(=)" "" "0000726796" "00001799" "10" "1383" "0" "1383" "0" "c.1383G>A" "r.(?)" "p.(Gln461=)" "" "0000726797" "00001799" "30" "1140" "0" "1140" "0" "c.1140G>T" "r.(?)" "p.(Gly380=)" "" "0000726798" "00001799" "30" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(Leu334=)" "" "0000726799" "00001799" "50" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Cys)" "" "0000786831" "00001799" "90" "1056" "0" "1069" "0" "c.1056_1069delinsC" "r.(?)" "p.(Ser353ProfsTer10)" "6" "0000787465" "00001799" "50" "1673" "0" "1673" "0" "c.1673A>G" "r.(?)" "p.(Glu558Gly)" "10" "0000808358" "00001799" "50" "3247" "0" "3247" "0" "c.3247G>A" "r.(?)" "p.(Glu1083Lys)" "" "0000808359" "00001799" "30" "2750" "0" "2750" "0" "c.2750T>G" "r.(?)" "p.(Met917Arg)" "" "0000808360" "00001799" "30" "2511" "0" "2511" "0" "c.2511C>T" "r.(?)" "p.(Cys837=)" "" "0000808361" "00001799" "50" "1585" "0" "1585" "0" "c.1585C>A" "r.(?)" "p.(Leu529Ile)" "" "0000808362" "00001799" "30" "1207" "-4" "1207" "-4" "c.1207-4C>T" "r.spl?" "p.?" "" "0000808363" "00001799" "50" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "" "0000808364" "00001799" "50" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Lys47Glu)" "" "0000808365" "00001799" "50" "13" "0" "13" "0" "c.13C>T" "r.(?)" "p.(Arg5Trp)" "" "0000817622" "00001799" "70" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987Trp)" "" "0000817623" "00001799" "70" "248" "0" "251" "0" "c.248_251dup" "r.(?)" "p.(His84GlnfsTer8)" "" "0000855183" "00001799" "50" "2936" "0" "2936" "0" "c.2936C>T" "r.(?)" "p.(Ser979Phe)" "" "0000855184" "00001799" "10" "2386" "-13" "2386" "-13" "c.2386-13T>G" "r.(=)" "p.(=)" "" "0000855185" "00001799" "10" "2160" "0" "2160" "0" "c.2160C>T" "r.(?)" "p.(Thr720=)" "" "0000855186" "00001799" "30" "1293" "0" "1293" "0" "c.1293T>C" "r.(?)" "p.(Leu431=)" "" "0000865575" "00001799" "30" "3498" "0" "3498" "0" "c.3498G>T" "r.(?)" "p.(Ser1166=)" "" "0000865576" "00001799" "90" "2923" "0" "2923" "0" "c.2923A>G" "r.(?)" "p.(Arg975Gly)" "" "0000865577" "00001799" "30" "1383" "0" "1383" "0" "c.1383G>A" "r.(?)" "p.(Gln461=)" "" "0000865578" "00001799" "30" "597" "0" "597" "0" "c.597G>A" "r.(?)" "p.(Thr199=)" "" "0000865579" "00001799" "30" "383" "0" "383" "0" "c.383G>T" "r.(?)" "p.(Cys128Phe)" "" "0000865580" "00001799" "10" "366" "0" "366" "0" "c.366A>G" "r.(?)" "p.(Ala122=)" "" "0000865581" "00001799" "30" "197" "15" "197" "15" "c.197+15C>T" "r.(=)" "p.(=)" "" "0000894367" "00001799" "10" "2973" "0" "2973" "0" "c.2973T>C" "r.(?)" "p.(Tyr991=)" "" "0000894368" "00001799" "90" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987Trp)" "" "0000894369" "00001799" "10" "2154" "0" "2154" "0" "c.2154T>A" "r.(?)" "p.(Asp718Glu)" "" "0000894370" "00001799" "10" "1795" "0" "1795" "0" "c.1795C>T" "r.(?)" "p.(Pro599Ser)" "" "0000894371" "00001799" "30" "1728" "0" "1728" "0" "c.1728G>A" "r.(?)" "p.(Pro576=)" "" "0000894372" "00001799" "30" "1542" "0" "1542" "0" "c.1542A>G" "r.(?)" "p.(Leu514=)" "" "0000894373" "00001799" "30" "1236" "0" "1236" "0" "c.1236G>T" "r.(?)" "p.(Val412=)" "" "0000894374" "00001799" "30" "1207" "-4" "1207" "-4" "c.1207-4C>T" "r.spl?" "p.?" "" "0000894375" "00001799" "90" "724" "0" "727" "0" "c.724_727del" "r.(?)" "p.(Lys242LeufsTer41)" "" "0000894376" "00001799" "30" "663" "0" "663" "0" "c.663T>C" "r.(?)" "p.(Gly221=)" "" "0000894377" "00001799" "30" "597" "0" "597" "0" "c.597G>A" "r.(?)" "p.(Thr199=)" "" "0000894378" "00001799" "30" "477" "0" "477" "0" "c.477G>T" "r.(?)" "p.(Leu159=)" "" "0000894379" "00001799" "30" "189" "0" "189" "0" "c.189C>G" "r.(?)" "p.(Leu63=)" "" "0000915002" "00001799" "30" "1720" "0" "1720" "0" "c.1720C>T" "r.(?)" "p.(Pro574Ser)" "" "0000915003" "00001799" "30" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Arg460Cys)" "" "0000915004" "00001799" "10" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Arg436His)" "" "0000926683" "00001799" "30" "3635" "0" "3635" "0" "c.3635T>A" "r.(?)" "p.(Ile1212Asn)" "" "0000926684" "00001799" "50" "3604" "0" "3604" "0" "c.3604C>T" "r.(?)" "p.(Arg1202*)" "" "0000926685" "00001799" "30" "3011" "9" "3011" "9" "c.3011+9C>T" "r.(=)" "p.(=)" "" "0000926686" "00001799" "30" "2739" "0" "2739" "0" "c.2739G>A" "r.(?)" "p.(Ala913=)" "" "0000926687" "00001799" "30" "1528" "0" "1528" "0" "c.1528A>G" "r.(?)" "p.(Thr510Ala)" "" "0000926688" "00001799" "30" "547" "0" "547" "0" "c.547G>T" "r.(?)" "p.(Asp183Tyr)" "" "0000926689" "00001799" "30" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Arg78His)" "" "0000930910" "00001799" "90" "2923" "0" "2923" "0" "c.2923A>G" "r.(?)" "p.(Arg975Gly)" "" "0000930911" "00001799" "30" "1025" "0" "1025" "0" "c.1025A>G" "r.(?)" "p.(Asp342Gly)" "" "0000930912" "00001799" "30" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Arg232Gln)" "" "0000930913" "00001799" "30" "126" "0" "126" "0" "c.126A>G" "r.(?)" "p.(=)" "" "0000951078" "00001799" "30" "1617" "11" "1617" "11" "c.1617+11G>A" "r.(=)" "p.(=)" "" "0000982928" "00001799" "50" "3604" "0" "3604" "0" "c.3604C>T" "r.(?)" "p.(Arg1202*)" "" "0000982929" "00001799" "30" "1734" "0" "1734" "0" "c.1734C>T" "r.(?)" "p.(=)" "" "0000982930" "00001799" "50" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Arg522Trp)" "" "0000982931" "00001799" "50" "1118" "0" "1118" "0" "c.1118A>G" "r.(?)" "p.(Tyr373Cys)" "" "0001003883" "00001799" "50" "1867" "0" "1867" "0" "c.1867C>A" "r.(?)" "p.(Leu623Ile)" "" "0001003884" "00001799" "30" "1025" "0" "1025" "0" "c.1025A>G" "r.(?)" "p.(Asp342Gly)" "" "0001003885" "00001799" "30" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Arg232Gln)" "" "0001027081" "00001799" "30" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(Leu334=)" "" "0001027082" "00001799" "30" "248" "0" "248" "0" "c.248G>C" "r.(?)" "p.(Ser83Thr)" "" "0001042306" "00001799" "50" "2506" "0" "2506" "0" "c.2506T>C" "r.(?)" "p.(Ser836Pro)" "" "0001042307" "00001799" "50" "2192" "0" "2192" "0" "c.2192G>A" "r.(?)" "p.(Arg731Gln)" "" "0001042308" "00001799" "50" "2192" "0" "2192" "0" "c.2192G>A" "r.(?)" "p.(Arg731Gln)" "" "0001042309" "00001799" "50" "1264" "0" "1264" "0" "c.1264G>A" "r.(?)" "p.(Ala422Thr)" "" "0001055834" "00001799" "30" "3226" "0" "3226" "0" "c.3226C>T" "r.(?)" "p.(=)" "" "0001055835" "00001799" "50" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 81 "{{screeningid}}" "{{variantid}}" "0000000395" "0000017119" "0000000395" "0000017120" "0000000396" "0000017121" "0000000396" "0000017122" "0000000397" "0000017123" "0000000397" "0000017124" "0000000398" "0000017125" "0000000398" "0000017126" "0000000399" "0000017127" "0000000399" "0000017128" "0000000400" "0000017129" "0000000400" "0000017130" "0000000401" "0000017131" "0000000401" "0000017132" "0000000402" "0000017133" "0000000402" "0000017134" "0000000403" "0000017135" "0000000403" "0000017136" "0000000404" "0000017137" "0000000404" "0000017138" "0000000406" "0000017141" "0000000406" "0000017142" "0000000407" "0000017145" "0000000407" "0000017146" "0000000408" "0000017147" "0000000408" "0000017148" "0000000409" "0000017149" "0000000409" "0000017150" "0000000410" "0000017151" "0000000410" "0000017152" "0000000411" "0000017153" "0000000411" "0000017154" "0000000412" "0000017155" "0000000412" "0000017156" "0000000413" "0000017157" "0000000413" "0000017158" "0000000414" "0000017159" "0000000414" "0000017160" "0000000415" "0000017161" "0000000415" "0000017162" "0000000416" "0000017163" "0000000416" "0000017164" "0000000417" "0000017165" "0000000417" "0000017166" "0000000418" "0000017167" "0000000418" "0000017168" "0000000420" "0000017173" "0000000420" "0000017174" "0000000422" "0000017178" "0000000422" "0000017179" "0000000423" "0000017181" "0000000423" "0000017182" "0000000424" "0000017183" "0000000424" "0000017184" "0000000425" "0000017185" "0000000425" "0000017186" "0000000426" "0000017187" "0000000426" "0000017188" "0000000427" "0000017189" "0000000427" "0000017190" "0000000428" "0000017191" "0000000428" "0000017192" "0000000429" "0000017193" "0000000429" "0000017194" "0000034640" "0000061758" "0000034640" "0000061759" "0000037663" "0000064811" "0000037663" "0000064812" "0000038002" "0000065312" "0000155267" "0000354941" "0000155268" "0000355065" "0000209880" "0000440115" "0000209880" "0000440116" "0000293071" "0000649760" "0000293072" "0000649761" "0000321349" "0000704178" "0000321349" "0000704179" "0000375480" "0000786831" "0000375480" "0000787465" "0000388847" "0000817622" "0000388847" "0000817623"