### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = XPC) # 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}}" "XPC" "xeroderma pigmentosum, complementation group C" "3" "p25" "unknown" "NG_011763.1" "UD_132118617778" "" "https://www.LOVD.nl/XPC" "" "1" "12816" "7508" "613208" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/XPC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-08-31 14:16:55" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00022926" "XPC" "transcript variant 1" "003" "NM_004628.4" "" "NP_004619.3" "" "" "" "-104" "3617" "2823" "14220172" "14186647" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "02135" "XPC" "xeroderma pigmentosum, complementation group C (XPC)" "AR" "278720" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05596" "XP" "xeroderma pigmentosum (XP)" "" "" "" "" "" "00006" "2019-04-20 16:55:51" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "XPC" "02135" ## Individuals ## Do not remove or alter this header ## ## Count = 30 "{{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}}" "00293234" "" "" "" "78" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307257" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "0" "" "" "" "Patient 62" "00436210" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP117BR" "00436211" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP93BR" "00436212" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP66TU" "00436213" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Bangladesh" "XP112BR-S" "00436214" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP102BR" "00436215" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Bangladesh" "XP112BR" "00436216" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP4LE" "00436217" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP73BR" "00436218" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Sri Lanka" "XP94BR" "00436219" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP82BR" "00436220" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP76BR" "00436221" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP78BR" "00436222" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP3LE" "00436223" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP77BR" "00436224" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP58BR" "00436225" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP83BR" "00436226" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP62BR" "00436227" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Bangladesh" "XP39BR" "00436228" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Bangladesh" "XP35BR" "00436229" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Bangladesh" "XP28BR" "00436230" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Middle East" "XP51BR" "00436231" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP6B1" "00436232" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP1SH" "00436233" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Middle East" "XP22BR" "00436234" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "39y" "0" "" "" "Middle East" "XP21BR" "00436235" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP95BR" "00436236" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP107BR" "00436237" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia" "XP29BR" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00293234" "00198" "00307257" "01544" "00436210" "05596" "00436211" "05596" "00436212" "05596" "00436213" "05596" "00436214" "05596" "00436215" "05596" "00436216" "05596" "00436217" "05596" "00436218" "05596" "00436219" "05596" "00436220" "05596" "00436221" "05596" "00436222" "05596" "00436223" "05596" "00436224" "05596" "00436225" "05596" "00436226" "05596" "00436227" "05596" "00436228" "05596" "00436229" "05596" "00436230" "05596" "00436231" "05596" "00436232" "05596" "00436233" "05596" "00436234" "05596" "00436235" "05596" "00436236" "05596" "00436237" "05596" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01544, 02135, 05596 ## Count = 29 "{{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}}" "0000233061" "01544" "00307257" "03753" "Unknown" "" "Unilateral" "" "00y22m" "HP:0000486" "" "" "" "" "" "" "" "" "0000326390" "05596" "00436210" "00006" "Familial, autosomal recessive" "5y" "sunburn severity score 0; 4y-first cancer, basal cell carcinoma; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 8" "" "5y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326391" "05596" "00436211" "00006" "Familial, autosomal recessive" "6y" "sunburn severity score 0; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 1" "" "1y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326392" "05596" "00436212" "00006" "Familial, autosomal recessive" "6y" "sunburn severity score 0; 3y-first cancer, squamous cell carcinoma; no malignant melanoma; 4 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 20" "" "3y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326393" "05596" "00436213" "00006" "Familial, autosomal recessive" "7y" "sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0;" "" "3y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326394" "05596" "00436214" "00006" "Familial, autosomal recessive" "7y" "sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 14" "" "4y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326395" "05596" "00436215" "00006" "Familial, autosomal recessive" "9y" "sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 9" "" "7y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326396" "05596" "00436216" "00006" "Familial, autosomal recessive" "9y" "sunburn severity score 0; 6y-first cancer, basal cell carcinoma; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 5" "" "5y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326397" "05596" "00436217" "00006" "Familial, autosomal recessive" "10y" "sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 1; unscheduled DNA synthesis 7" "" "2y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326398" "05596" "00436218" "00006" "Familial, autosomal recessive" "10y" "sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 11" "" "6y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326399" "05596" "00436219" "00006" "Familial, autosomal recessive" "10y" "sunburn severity score 0; 6y-first cancer, squamous cell carcinoma; no malignant melanoma; 3 nonmelanoma skin cancers; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 15" "" "2y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326400" "05596" "00436220" "00006" "Familial, autosomal recessive" "11y" "sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 10" "" "3y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326401" "05596" "00436221" "00006" "Familial, autosomal recessive" "12y" "sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 28" "" "5y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326402" "05596" "00436222" "00006" "Familial, autosomal recessive" "13y" "sunburn severity score 0; 11y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 15" "" "6y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326403" "05596" "00436223" "00006" "Familial, autosomal recessive" "12y" "sunburn severity score 0; 8y-first cancer, basal cell carcinoma; 1 malignant melanoma; no nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 10" "" "4y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326404" "05596" "00436224" "00006" "Familial, autosomal recessive" "15y" "sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 0;" "" "4y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326405" "05596" "00436225" "00006" "Familial, autosomal recessive" "16y" "sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 21" "" "9y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326406" "05596" "00436226" "00006" "Familial, autosomal recessive" "17y" "sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 6" "" "7y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326407" "05596" "00436227" "00006" "Familial, autosomal recessive" "17y" "sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 12" "" "2y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326408" "05596" "00436228" "00006" "Familial, autosomal recessive" "19y" "sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 0; unscheduled DNA synthesis 13" "" "4y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326409" "05596" "00436229" "00006" "Familial, autosomal recessive" "21y" "sunburn severity score 0; 8y-first cancer, basal cell carcinoma; no malignant melanoma; 8 nonmelanoma skin cancers; ocular severity score 9; neuro severity score 0; unscheduled DNA synthesis 12" "" "4y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326410" "05596" "00436230" "00006" "Familial, autosomal recessive" "23y" "sunburn severity score 0; 12y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 1" "" "11y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326411" "05596" "00436231" "00006" "Familial, autosomal recessive" "23y" "sunburn severity score 0; 22y-first cancer, basal cell carcinoma; no malignant melanoma; 5 nonmelanoma skin cancers; ocular severity score 8; neuro severity score 0; unscheduled DNA synthesis 13" "" "5y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326412" "05596" "00436232" "00006" "Familial, autosomal recessive" "27y" "sunburn severity score 0; 3y-first cancer, basal cell carcinoma; no malignant melanoma; 5 nonmelanoma skin cancers; ocular severity score 8; neuro severity score 0; unscheduled DNA synthesis 6" "" "23y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326413" "05596" "00436233" "00006" "Familial, autosomal recessive" "38y" "sunburn severity score 0; 11y-first cancer, basal cell carcinoma; no malignant melanoma; 7 nonmelanoma skin cancers; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 13" "" "19y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326414" "05596" "00436234" "00006" "Familial, autosomal recessive" "39y" "sunburn severity score 0; 31y-first cancer, basal cell carcinoma; 1 malignant melanoma; 6 nonmelanoma skin cancers; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 15" "" "6y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326415" "05596" "00436235" "00006" "Familial, autosomal recessive" "26y" "sunburn severity score 0; 20y-first cancer, malignant melanoma; 9 malignant melanomas; no nonmelanoma skin cancer; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 27" "" "20y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326416" "05596" "00436236" "00006" "Familial, autosomal recessive" "37y" "sunburn severity score 0; 28y-first cancer, melanoma in situ; 4 malignant melanomas; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 41" "" "34y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" "0000326417" "05596" "00436237" "00006" "Familial, autosomal recessive" "62y" "sunburn severity score 0; 57y-first cancer, basal cell carcinoma; 3 malignant melanomas; 1 nonmelanoma skin cancer; ocular severity score 2; neuro severity score 1; unscheduled DNA synthesis 33" "" "46y" "" "" "" "" "" "" "XPC" "xeroderma pigmentosa" "" ## Screenings ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000294402" "00293234" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308399" "00307257" "1" "03753" "03753" "2020-08-06 23:25:39" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000437693" "00436210" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437694" "00436211" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437695" "00436212" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437696" "00436213" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437697" "00436214" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437698" "00436215" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437699" "00436216" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437700" "00436217" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437701" "00436218" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437702" "00436219" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437703" "00436220" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437704" "00436221" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437705" "00436222" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437706" "00436223" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437707" "00436224" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437708" "00436225" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437709" "00436226" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437710" "00436227" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437711" "00436228" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437712" "00436229" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437713" "00436230" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437714" "00436231" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437715" "00436232" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437716" "00436233" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437717" "00436234" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437718" "00436235" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437719" "00436236" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437720" "00436237" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{geneid}}" "0000437693" "XPC" "0000437694" "XPC" "0000437695" "XPC" "0000437696" "XPC" "0000437697" "XPC" "0000437698" "XPC" "0000437699" "XPC" "0000437700" "XPC" "0000437701" "XPC" "0000437702" "XPC" "0000437703" "XPC" "0000437704" "XPC" "0000437705" "XPC" "0000437706" "XPC" "0000437707" "XPC" "0000437708" "XPC" "0000437709" "XPC" "0000437710" "XPC" "0000437711" "XPC" "0000437712" "XPC" "0000437713" "XPC" "0000437714" "XPC" "0000437715" "XPC" "0000437716" "XPC" "0000437717" "XPC" "0000437718" "XPC" "0000437719" "XPC" "0000437720" "XPC" ## 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 = 151 "{{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}}" "0000248525" "0" "10" "3" "14197987" "14197987" "subst" "1" "02325" "XPC_000006" "g.14197987A>T" "" "" "" "XPC(NM_004628.5):c.1881T>A (p.A627=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14156487A>T" "" "benign" "" "0000250086" "0" "10" "3" "14200021" "14200021" "subst" "0.00241556" "02329" "XPC_000025" "g.14200021A>G" "" "" "" "XPC(NM_004628.5):c.1362T>C (p.D454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14158521A>G" "" "benign" "" "0000309220" "0" "50" "3" "14183150" "14183150" "subst" "1.21904E-5" "02330" "TMEM43_000081" "g.14183150T>C" "" "" "" "TMEM43(NM_024334.3):c.1058T>C (p.F353S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141650T>C" "" "VUS" "" "0000309221" "0" "10" "3" "14183188" "14183188" "subst" "0.00131201" "02330" "TMEM43_000025" "g.14183188G>A" "" "" "" "TMEM43(NM_024334.2):c.1096G>A (p.A366T), TMEM43(NM_024334.3):c.1096G>A (p.A366T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141688G>A" "" "benign" "" "0000309222" "0" "30" "3" "14183197" "14183197" "subst" "0.00010154" "02330" "TMEM43_000063" "g.14183197C>T" "" "" "" "TMEM43(NM_024334.2):c.1105C>T (p.L369F), TMEM43(NM_024334.3):c.1105C>T (p.L369F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141697C>T" "" "likely benign" "" "0000311878" "0" "50" "3" "14183312" "14183312" "subst" "0" "02325" "TMEM43_000089" "g.14183312G>A" "" "" "" "TMEM43(NM_024334.3):c.*17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141812G>A" "" "VUS" "" "0000311880" "0" "50" "3" "14183150" "14183150" "subst" "1.21904E-5" "02325" "TMEM43_000081" "g.14183150T>C" "" "" "" "TMEM43(NM_024334.3):c.1058T>C (p.F353S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141650T>C" "" "VUS" "" "0000311881" "0" "50" "3" "14183212" "14183213" "del" "0.000227439" "02325" "TMEM43_000087" "g.14183212_14183213del" "" "" "" "TMEM43(NM_024334.3):c.1120_1121delCT (p.L374Vfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141712_14141713del" "" "VUS" "" "0000313741" "0" "10" "3" "14214524" "14214524" "subst" "0.0216508" "02329" "XPC_000015" "g.14214524G>A" "" "" "" "XPC(NM_001145769.1):c.142C>T (p.(Leu48Phe)), XPC(NM_004628.5):c.142C>T (p.L48F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14173024G>A" "" "benign" "" "0000313742" "0" "10" "3" "14197840" "14197840" "subst" "0.00253053" "02329" "XPC_000005" "g.14197840G>A" "" "" "" "XPC(NM_004628.4):c.2028C>T (p.Y676=), XPC(NM_004628.5):c.2028C>T (p.Y676=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14156340G>A" "" "benign" "" "0000313743" "0" "30" "3" "14193818" "14193818" "subst" "0.00319403" "02329" "XPC_000004" "g.14193818C>A" "" "" "" "XPC(NM_004628.5):c.2115+17G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14152318C>A" "" "likely benign" "" "0000313745" "0" "30" "3" "14187482" "14187482" "subst" "0.000549156" "02329" "XPC_000001" "g.14187482T>G" "" "" "" "XPC(NM_004628.5):c.2782A>C (p.K928Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14145982T>G" "" "likely benign" "" "0000313746" "0" "10" "3" "14212050" "14212050" "subst" "0.00546644" "02329" "XPC_000014" "g.14212050C>T" "" "" "" "XPC(NM_004628.5):c.300G>A (p.R100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14170550C>T" "" "benign" "" "0000313747" "0" "10" "3" "14207101" "14207101" "subst" "0.00548266" "02329" "XPC_000011" "g.14207101G>C" "" "" "" "XPC(NM_004628.5):c.622-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14165601G>C" "" "benign" "" "0000313748" "0" "10" "3" "14206341" "14206341" "subst" "0.00330708" "02329" "XPC_000009" "g.14206341G>C" "" "" "" "XPC(NM_004628.5):c.872C>G (p.S291C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14164841G>C" "" "benign" "" "0000314562" "0" "30" "3" "14183153" "14183153" "subst" "0.000438817" "02326" "TMEM43_000082" "g.14183153G>C" "" "" "" "TMEM43(NM_024334.2):c.1061G>C (p.C354S), TMEM43(NM_024334.3):c.1061G>C (p.C354S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141653G>C" "" "likely benign" "" "0000314563" "0" "30" "3" "14183188" "14183188" "subst" "0.00131201" "02326" "TMEM43_000025" "g.14183188G>A" "" "" "" "TMEM43(NM_024334.2):c.1096G>A (p.A366T), TMEM43(NM_024334.3):c.1096G>A (p.A366T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141688G>A" "" "likely benign" "" "0000314564" "0" "10" "3" "14183203" "14183203" "subst" "0.000800117" "02326" "TMEM43_000064" "g.14183203T>C" "" "" "" "TMEM43(NM_024334.2):c.1111T>C (p.Y371H), TMEM43(NM_024334.3):c.1111T>C (p.Y371H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141703T>C" "" "benign" "" "0000315514" "0" "50" "3" "14207049" "14207049" "subst" "2.04785E-5" "02326" "XPC_000010" "g.14207049G>A" "" "" "" "XPC(NM_004628.4):c.658C>T (p.R220*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14165549G>A" "" "VUS" "" "0000316702" "0" "10" "3" "14183311" "14183311" "subst" "0.00168181" "01943" "TMEM43_000026" "g.14183311C>T" "" "" "" "TMEM43(NM_024334.2):c.*16C>T, TMEM43(NM_024334.3):c.*16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141811C>T" "" "benign" "" "0000316704" "0" "30" "3" "14183166" "14183166" "subst" "1.21876E-5" "01943" "TMEM43_000083" "g.14183166G>A" "" "" "" "TMEM43(NM_024334.2):c.1074G>A (p.S358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141666G>A" "" "likely benign" "" "0000316705" "0" "10" "3" "14183188" "14183188" "subst" "0.00131201" "01943" "TMEM43_000025" "g.14183188G>A" "" "" "" "TMEM43(NM_024334.2):c.1096G>A (p.A366T), TMEM43(NM_024334.3):c.1096G>A (p.A366T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141688G>A" "" "benign" "" "0000320060" "0" "50" "3" "14200382" "14200382" "subst" "0.00254958" "01943" "XPC_000008" "g.14200382G>T" "" "" "" "XPC(NM_004628.4):c.1001C>A (p.P334H), XPC(NM_004628.5):c.1001C>A (p.P334H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14158882G>T" "" "VUS" "" "0000320061" "0" "50" "3" "14199909" "14199909" "subst" "2.03236E-5" "01943" "XPC_000007" "g.14199909G>A" "" "" "" "XPC(NM_004628.4):c.1474C>T (p.R492C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14158409G>A" "" "VUS" "" "0000320062" "0" "10" "3" "14197840" "14197840" "subst" "0.00253053" "01943" "XPC_000005" "g.14197840G>A" "" "" "" "XPC(NM_004628.4):c.2028C>T (p.Y676=), XPC(NM_004628.5):c.2028C>T (p.Y676=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14156340G>A" "" "benign" "" "0000320063" "0" "50" "3" "14190057" "14190057" "subst" "8.13504E-6" "01943" "XPC_000002" "g.14190057C>T" "" "" "" "XPC(NM_004628.4):c.2420+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14148557C>T" "" "VUS" "" "0000320064" "0" "30" "3" "14212047" "14212047" "subst" "0.00347245" "01943" "XPC_000013" "g.14212047G>A" "" "" "" "XPC(NM_004628.4):c.303C>T (p.D101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14170547G>A" "" "likely benign" "" "0000320065" "0" "90" "3" "14209872" "14209875" "del" "0" "01943" "XPC_000012" "g.14209872_14209875del" "" "" "" "XPC(NM_004628.4):c.420_423del (p.(Glu141LeufsTer6)), XPC(NM_004628.4):c.420_423delTGAG (p.E141Lfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14168372_14168375del" "" "pathogenic" "" "0000518129" "0" "10" "3" "14183085" "14183085" "subst" "0" "02330" "TMEM43_000133" "g.14183085T>A" "" "" "" "TMEM43(NM_024334.3):c.1001-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141585T>A" "" "benign" "" "0000518130" "0" "50" "3" "14183123" "14183123" "subst" "1.22134E-5" "02327" "TMEM43_000134" "g.14183123T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141623T>G" "" "VUS" "" "0000518131" "0" "30" "3" "14183153" "14183153" "subst" "0.000438817" "02327" "TMEM43_000082" "g.14183153G>C" "" "" "" "TMEM43(NM_024334.2):c.1061G>C (p.C354S), TMEM43(NM_024334.3):c.1061G>C (p.C354S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141653G>C" "" "likely benign" "" "0000518132" "0" "30" "3" "14183153" "14183153" "subst" "0.000438817" "02325" "TMEM43_000082" "g.14183153G>C" "" "" "" "TMEM43(NM_024334.2):c.1061G>C (p.C354S), TMEM43(NM_024334.3):c.1061G>C (p.C354S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141653G>C" "" "likely benign" "" "0000518133" "0" "90" "3" "14183165" "14183165" "subst" "0" "02325" "TMEM43_000024" "g.14183165C>T" "" "" "" "TMEM43(NM_024334.2):c.1073C>T (p.S358L), TMEM43(NM_024334.3):c.1073C>T (p.S358L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141665C>T" "" "pathogenic" "" "0000518134" "0" "50" "3" "14183165" "14183165" "subst" "0" "02326" "TMEM43_000024" "g.14183165C>T" "" "" "" "TMEM43(NM_024334.2):c.1073C>T (p.S358L), TMEM43(NM_024334.3):c.1073C>T (p.S358L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141665C>T" "" "VUS" "" "0000518135" "0" "10" "3" "14183188" "14183188" "subst" "0.00131201" "02327" "TMEM43_000025" "g.14183188G>A" "" "" "" "TMEM43(NM_024334.2):c.1096G>A (p.A366T), TMEM43(NM_024334.3):c.1096G>A (p.A366T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141688G>A" "" "benign" "" "0000518136" "0" "10" "3" "14183203" "14183203" "subst" "0.000800117" "02330" "TMEM43_000064" "g.14183203T>C" "" "" "" "TMEM43(NM_024334.2):c.1111T>C (p.Y371H), TMEM43(NM_024334.3):c.1111T>C (p.Y371H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141703T>C" "" "benign" "" "0000518137" "0" "30" "3" "14183203" "14183203" "subst" "0.000800117" "02327" "TMEM43_000064" "g.14183203T>C" "" "" "" "TMEM43(NM_024334.2):c.1111T>C (p.Y371H), TMEM43(NM_024334.3):c.1111T>C (p.Y371H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141703T>C" "" "likely benign" "" "0000518138" "0" "50" "3" "14183204" "14183204" "subst" "2.03107E-5" "01943" "TMEM43_000135" "g.14183204A>G" "" "" "" "TMEM43(NM_024334.2):c.1112A>G (p.Y371C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141704A>G" "" "VUS" "" "0000518139" "0" "30" "3" "14183232" "14183232" "subst" "1.21859E-5" "02327" "TMEM43_000136" "g.14183232C>T" "" "" "" "TMEM43(NM_024334.2):c.1140C>T (p.A380=), TMEM43(NM_024334.3):c.1140C>T (p.A380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141732C>T" "" "likely benign" "" "0000518140" "0" "30" "3" "14183269" "14183269" "subst" "8.13345E-6" "02327" "TMEM43_000137" "g.14183269C>T" "" "" "" "TMEM43(NM_024334.2):c.1177C>T (p.R393W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141769C>T" "" "likely benign" "" "0000518141" "0" "50" "3" "14183270" "14183270" "subst" "8.13259E-6" "02330" "TMEM43_000138" "g.14183270G>A" "" "" "" "TMEM43(NM_024334.2):c.1178G>A (p.(Arg393Gln)), TMEM43(NM_024334.3):c.1178G>A (p.R393Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141770G>A" "" "VUS" "" "0000518142" "0" "30" "3" "14183270" "14183270" "subst" "8.13259E-6" "01804" "TMEM43_000138" "g.14183270G>A" "" "" "" "TMEM43(NM_024334.2):c.1178G>A (p.(Arg393Gln)), TMEM43(NM_024334.3):c.1178G>A (p.R393Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141770G>A" "" "likely benign" "" "0000518143" "0" "30" "3" "14183277" "14183277" "subst" "2.84761E-5" "01943" "TMEM43_000139" "g.14183277A>G" "" "" "" "TMEM43(NM_024334.2):c.1185A>G (p.P395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141777A>G" "" "likely benign" "" "0000518144" "0" "10" "3" "14183303" "14183303" "subst" "0.000518933" "02330" "TMEM43_000140" "g.14183303C>T" "" "" "" "TMEM43(NM_024334.3):c.*8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141803C>T" "" "benign" "" "0000518145" "0" "10" "3" "14183311" "14183311" "subst" "0.00168181" "02330" "TMEM43_000026" "g.14183311C>T" "" "" "" "TMEM43(NM_024334.2):c.*16C>T, TMEM43(NM_024334.3):c.*16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141811C>T" "" "benign" "" "0000518146" "0" "10" "3" "14183311" "14183311" "subst" "0.00168181" "02327" "TMEM43_000026" "g.14183311C>T" "" "" "" "TMEM43(NM_024334.2):c.*16C>T, TMEM43(NM_024334.3):c.*16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141811C>T" "" "benign" "" "0000518147" "0" "30" "3" "14183326" "14183326" "subst" "0.00749045" "02327" "TMEM43_000027" "g.14183326T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141826T>C" "" "likely benign" "" "0000518148" "0" "10" "3" "14183410" "14183410" "subst" "0" "02327" "TMEM43_000028" "g.14183410T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141910T>C" "" "benign" "" "0000518149" "0" "30" "3" "14189402" "14189402" "subst" "6.46192E-5" "01943" "TMEM43_000141" "g.14189402G>A" "" "" "" "XPC(NM_004628.4):c.2514+6C>T, XPC(NM_004628.5):c.2514+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14147902G>A" "" "likely benign" "" "0000518150" "0" "50" "3" "14190078" "14190078" "subst" "0.000454985" "01943" "TMEM43_000142" "g.14190078C>T" "" "" "" "XPC(NM_004628.4):c.2404G>A (p.G802S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14148578C>T" "" "VUS" "" "0000518151" "0" "30" "3" "14190151" "14190151" "subst" "5.6862E-5" "02329" "TMEM43_000143" "g.14190151G>T" "" "" "" "XPC(NM_004628.5):c.2331C>A (p.P777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14148651G>T" "" "likely benign" "" "0000518152" "0" "50" "3" "14190170" "14190170" "subst" "0" "01943" "TMEM43_000144" "g.14190170C>T" "" "" "" "XPC(NM_004628.4):c.2312G>A (p.C771Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14148670C>T" "" "VUS" "" "0000518153" "0" "30" "3" "14190239" "14190239" "subst" "2.0316E-5" "01943" "XPC_000016" "g.14190239G>A" "" "" "" "XPC(NM_004628.4):c.2251-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14148739G>A" "" "likely benign" "" "0000518154" "0" "30" "3" "14190332" "14190332" "subst" "0.000540268" "01943" "XPC_000017" "g.14190332T>G" "" "" "" "XPC(NM_004628.4):c.2232A>C (p.P744=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14148832T>G" "" "likely benign" "" "0000518155" "0" "30" "3" "14193822" "14193822" "dup" "0" "02329" "XPC_000018" "g.14193822dup" "" "" "" "XPC(NM_004628.5):c.2115+18dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14152322dup" "" "likely benign" "" "0000518156" "0" "10" "3" "14199542" "14199542" "subst" "0.00152465" "01943" "XPC_000019" "g.14199542A>G" "" "" "" "XPC(NM_004628.4):c.1841T>C (p.F614S), XPC(NM_004628.5):c.1841T>C (p.(Phe614Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14158042A>G" "" "benign" "" "0000518157" "0" "50" "3" "14199603" "14199603" "subst" "0.000276171" "01943" "XPC_000020" "g.14199603G>A" "" "" "" "XPC(NM_004628.4):c.1780C>T (p.R594C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14158103G>A" "" "VUS" "" "0000518158" "0" "90" "3" "14199743" "14199744" "del" "0" "01943" "XPC_000021" "g.14199743_14199744del" "" "" "" "XPC(NM_004628.4):c.1643_1644delTG (p.V548Afs*25), XPC(NM_004628.5):c.1643_1644delTG (p.V548Afs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14158243_14158244del" "" "pathogenic" "" "0000518159" "0" "90" "3" "14199743" "14199744" "del" "0" "02325" "XPC_000021" "g.14199743_14199744del" "" "" "" "XPC(NM_004628.4):c.1643_1644delTG (p.V548Afs*25), XPC(NM_004628.5):c.1643_1644delTG (p.V548Afs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14158243_14158244del" "" "pathogenic" "" "0000518160" "0" "50" "3" "14199852" "14199852" "subst" "0.000129966" "01943" "XPC_000022" "g.14199852T>G" "" "" "" "XPC(NM_004628.4):c.1531A>C (p.K511Q), XPC(NM_004628.5):c.1531A>C (p.K511Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14158352T>G" "" "VUS" "" "0000518161" "0" "30" "3" "14199888" "14199888" "subst" "0" "01943" "XPC_000023" "g.14199888C>T" "" "" "" "XPC(NM_004628.4):c.1495G>A (p.A499T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14158388C>T" "" "likely benign" "" "0000518162" "0" "30" "3" "14199928" "14199928" "subst" "2.44369E-5" "01943" "XPC_000024" "g.14199928C>A" "" "" "" "XPC(NM_004628.4):c.1455G>T (p.R485S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14158428C>A" "" "likely benign" "" "0000518163" "0" "30" "3" "14200205" "14200205" "subst" "2.84324E-5" "01943" "XPC_000026" "g.14200205C>T" "" "" "" "XPC(NM_004628.4):c.1178G>A (p.R393Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14158705C>T" "" "likely benign" "" "0000518164" "0" "30" "3" "14200334" "14200334" "subst" "0" "01804" "XPC_000027" "g.14200334G>T" "" "" "" "XPC(NM_001145769.1):c.938C>A (p.(Ser313Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14158834G>T" "" "likely benign" "" "0000518165" "0" "10" "3" "14206353" "14206353" "subst" "0.00137234" "01943" "XPC_000028" "g.14206353A>C" "" "" "" "XPC(NM_001145769.1):c.749T>G (p.(Phe250Cys)), XPC(NM_004628.4):c.860T>G (p.F287C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14164853A>C" "" "benign" "" "0000518166" "0" "30" "3" "14206353" "14206353" "subst" "0.00137234" "01804" "XPC_000028" "g.14206353A>C" "" "" "" "XPC(NM_001145769.1):c.749T>G (p.(Phe250Cys)), XPC(NM_004628.4):c.860T>G (p.F287C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14164853A>C" "" "likely benign" "" "0000518167" "0" "50" "3" "14206958" "14206958" "subst" "4.01152E-5" "01943" "XPC_000029" "g.14206958T>C" "" "" "" "XPC(NM_004628.4):c.749A>G (p.D250G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14165458T>C" "" "VUS" "" "0000518168" "0" "90" "3" "14207087" "14207087" "subst" "4.08874E-6" "01943" "XPC_000030" "g.14207087T>C" "" "" "" "XPC(NM_004628.4):c.622-2A>G, XPC(NM_004628.5):c.622-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14165587T>C" "" "pathogenic" "" "0000518169" "0" "90" "3" "14207087" "14207087" "subst" "4.08874E-6" "02325" "XPC_000030" "g.14207087T>C" "" "" "" "XPC(NM_004628.4):c.622-2A>G, XPC(NM_004628.5):c.622-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14165587T>C" "" "pathogenic" "" "0000518170" "0" "90" "3" "14209872" "14209875" "del" "0" "01804" "XPC_000012" "g.14209872_14209875del" "" "" "" "XPC(NM_004628.4):c.420_423del (p.(Glu141LeufsTer6)), XPC(NM_004628.4):c.420_423delTGAG (p.E141Lfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14168372_14168375del" "" "pathogenic" "" "0000518171" "0" "30" "3" "14214524" "14214524" "subst" "0.0216508" "01804" "XPC_000015" "g.14214524G>A" "" "" "" "XPC(NM_001145769.1):c.142C>T (p.(Leu48Phe)), XPC(NM_004628.5):c.142C>T (p.L48F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14173024G>A" "" "likely benign" "" "0000518177" "0" "30" "3" "14220371" "14220371" "subst" "0" "01804" "LSM3_000001" "g.14220371A>G" "" "" "" "LSM3(NM_014463.2):c.11A>G (p.(Asp4Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14178871A>G" "" "likely benign" "" "0000608360" "0" "90" "3" "14197927" "14197927" "subst" "0" "02327" "XPC_000031" "g.14197927A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14156427A>T" "" "pathogenic" "" "0000608361" "0" "30" "3" "14199886" "14199886" "subst" "0.000373744" "01943" "XPC_000032" "g.14199886C>T" "" "" "" "XPC(NM_004628.4):c.1497G>A (p.A499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14158386C>T" "" "likely benign" "" "0000621189" "0" "30" "3" "14183233" "14183233" "subst" "2.03117E-5" "02326" "TMEM43_000065" "g.14183233G>A" "" "" "" "TMEM43(NM_024334.2):c.1141G>A (p.G381S), TMEM43(NM_024334.3):c.1141G>A (p.G381S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141733G>A" "" "likely benign" "" "0000621190" "0" "30" "3" "14183242" "14183242" "subst" "8.12407E-6" "01943" "TMEM43_000147" "g.14183242C>T" "" "" "" "TMEM43(NM_024334.2):c.1150C>T (p.L384F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141742C>T" "" "likely benign" "" "0000621191" "0" "50" "3" "14189479" "14189479" "subst" "0" "01943" "TMEM43_000148" "g.14189479C>T" "" "" "" "XPC(NM_004628.4):c.2443G>A (p.E815K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14147979C>T" "" "VUS" "" "0000621192" "0" "30" "3" "14201231" "14201231" "subst" "0.000327739" "01943" "XPC_000033" "g.14201231C>T" "" "" "" "XPC(NM_004628.4):c.990+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14159731C>T" "" "likely benign" "" "0000651091" "1" "30" "3" "14214524" "14214524" "subst" "0.0216508" "03575" "XPC_000015" "g.14214524G>A" "78/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "78 heterozygous, no homozygous; {DB:CLININrs2229089}" "Germline" "" "rs2229089" "0" "" "" "g.14173024G>A" "" "likely benign" "" "0000654819" "0" "30" "3" "14183232" "14183232" "subst" "1.21859E-5" "01943" "TMEM43_000136" "g.14183232C>T" "" "" "" "TMEM43(NM_024334.2):c.1140C>T (p.A380=), TMEM43(NM_024334.3):c.1140C>T (p.A380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141732C>T" "" "likely benign" "" "0000676843" "0" "30" "3" "14212000" "14212000" "subst" "0" "01804" "XPC_000035" "g.14212000G>A" "" "" "" "XPC(NM_001145769.1):c.350C>T (p.(Thr117Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682750" "0" "70" "3" "14189447" "14189447" "subst" "0" "03753" "XPC_000034" "g.14189447C>T" "0.034" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000719228" "0" "30" "3" "14183197" "14183197" "subst" "0.00010154" "02326" "TMEM43_000063" "g.14183197C>T" "" "" "" "TMEM43(NM_024334.2):c.1105C>T (p.L369F), TMEM43(NM_024334.3):c.1105C>T (p.L369F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719229" "0" "30" "3" "14199814" "14199814" "subst" "0" "01943" "XPC_000036" "g.14199814T>G" "" "" "" "XPC(NM_004628.4):c.1569A>C (p.R523S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719231" "0" "10" "3" "14219979" "14219981" "del" "0" "02327" "LSM3_000002" "g.14219979_14219981del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000801026" "0" "90" "3" "14199743" "14199744" "del" "0" "02329" "XPC_000021" "g.14199743_14199744del" "" "" "" "XPC(NM_004628.4):c.1643_1644delTG (p.V548Afs*25), XPC(NM_004628.5):c.1643_1644delTG (p.V548Afs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801027" "0" "50" "3" "14200155" "14200157" "del" "0" "01943" "XPC_000037" "g.14200155_14200157del" "" "" "" "XPC(NM_004628.4):c.1228_1230delGAG (p.E410del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801029" "0" "90" "3" "14212046" "14212046" "dup" "0" "02329" "XPC_000038" "g.14212046dup" "" "" "" "XPC(NM_004628.5):c.306dupT (p.P103Sfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850160" "0" "50" "3" "14183159" "14183159" "subst" "0" "02327" "TMEM43_000165" "g.14183159C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850161" "0" "10" "3" "14183233" "14183233" "subst" "2.03117E-5" "02330" "TMEM43_000065" "g.14183233G>A" "" "" "" "TMEM43(NM_024334.2):c.1141G>A (p.G381S), TMEM43(NM_024334.3):c.1141G>A (p.G381S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858828" "0" "90" "3" "14183165" "14183165" "subst" "0" "02330" "TMEM43_000024" "g.14183165C>T" "" "" "" "TMEM43(NM_024334.2):c.1073C>T (p.S358L), TMEM43(NM_024334.3):c.1073C>T (p.S358L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858829" "0" "30" "3" "14214452" "14214452" "subst" "4.062E-6" "01943" "XPC_000039" "g.14214452T>C" "" "" "" "XPC(NM_004628.4):c.214A>G (p.K72E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858833" "0" "50" "3" "14220068" "14220068" "subst" "5.31167E-5" "01943" "LSM3_000003" "g.14220068T>C" "" "" "" "XPC(NM_004628.4):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885585" "0" "90" "3" "14206401" "14206401" "dup" "0" "02326" "XPC_000040" "g.14206401dup" "" "" "" "XPC(NM_004628.4):c.814dupT (p.S272Ffs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928722" "0" "50" "3" "14199852" "14199852" "subst" "0.000129966" "02325" "XPC_000022" "g.14199852T>G" "" "" "" "XPC(NM_004628.4):c.1531A>C (p.K511Q), XPC(NM_004628.5):c.1531A>C (p.K511Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928723" "0" "10" "3" "14199940" "14199940" "subst" "0.00447019" "02329" "XPC_000041" "g.14199940C>A" "" "" "" "XPC(NM_004628.5):c.1443G>T (p.K481N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928724" "0" "30" "3" "14200382" "14200382" "subst" "0.00254958" "02325" "XPC_000008" "g.14200382G>T" "" "" "" "XPC(NM_004628.4):c.1001C>A (p.P334H), XPC(NM_004628.5):c.1001C>A (p.P334H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933045" "1" "90" "3" "14214365" "14214365" "del" "0" "00006" "XPC_000059" "g.14214365del" "" "{PMID:Fassihi 2016:26884178}" "" "299+2delT" "" "Germline" "" "" "0" "" "" "g.14172865del" "" "pathogenic (recessive)" "" "0000933046" "3" "90" "3" "14200140" "14200140" "subst" "1.21857E-5" "00006" "XPC_000052" "g.14200140G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.14158640G>A" "" "pathogenic (recessive)" "" "0000933047" "1" "90" "3" "14201294" "14201308" "del" "0" "00006" "XPC_000055" "g.14201294_14201308del" "" "{PMID:Fassihi 2016:26884178}" "" "924_938del15" "" "Germline" "" "" "0" "" "" "g.14159794_14159808del" "" "pathogenic (recessive)" "" "0000933048" "1" "90" "3" "14199575" "14199575" "subst" "8.12711E-6" "00006" "XPC_000050" "g.14199575C>T" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.14158075C>T" "" "pathogenic (recessive)" "" "0000933049" "1" "90" "3" "14200274" "14200274" "del" "0" "00006" "XPC_000053" "g.14200274del" "" "{PMID:Fassihi 2016:26884178}" "" "1111delA" "" "Germline" "" "" "0" "" "" "g.14158774del" "" "pathogenic (recessive)" "" "0000933050" "1" "90" "3" "14199575" "14199575" "subst" "8.12711E-6" "00006" "XPC_000050" "g.14199575C>T" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.14158075C>T" "" "pathogenic (recessive)" "" "0000933051" "3" "90" "3" "14190374" "14190390" "del" "0" "00006" "XPC_000048" "g.14190374_14190390del" "" "{PMID:Fassihi 2016:26884178}" "" "2176_2192del17" "" "Germline" "" "" "0" "" "" "g.14148874_14148890del" "" "pathogenic (recessive)" "" "0000933052" "3" "90" "3" "14200140" "14200140" "subst" "1.21857E-5" "00006" "XPC_000052" "g.14200140G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.14158640G>A" "" "pathogenic (recessive)" "" "0000933053" "3" "90" "3" "14206336" "14206336" "subst" "1.62819E-5" "00006" "XPC_000056" "g.14206336G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.14164836G>A" "" "pathogenic (recessive)" "" "0000933054" "1" "90" "3" "14211954" "14211957" "del" "0" "00006" "XPC_000058" "g.14211954_14211957del" "" "{PMID:Fassihi 2016:26884178}" "" "395_398delATTG" "" "Germline" "" "" "0" "" "" "g.14170454_14170457del" "" "pathogenic (recessive)" "" "0000933055" "3" "90" "3" "14200140" "14200140" "subst" "1.21857E-5" "00006" "XPC_000052" "g.14200140G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.14158640G>A" "" "pathogenic (recessive)" "" "0000933056" "3" "90" "3" "14200140" "14200140" "subst" "1.21857E-5" "00006" "XPC_000052" "g.14200140G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.14158640G>A" "" "pathogenic (recessive)" "" "0000933057" "3" "90" "3" "14200140" "14200140" "subst" "1.21857E-5" 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"g.14158640G>A" "" "pathogenic (recessive)" "" "0000933062" "3" "90" "3" "14190374" "14190390" "del" "0" "00006" "XPC_000048" "g.14190374_14190390del" "" "{PMID:Fassihi 2016:26884178}" "" "2176_2192del17" "" "Germline" "" "" "0" "" "" "g.14148874_14148890del" "" "pathogenic (recessive)" "" "0000933063" "3" "90" "3" "14190374" "14190390" "del" "0" "00006" "XPC_000048" "g.14190374_14190390del" "" "{PMID:Fassihi 2016:26884178}" "" "2176_2192del17" "" "Germline" "" "" "0" "" "" "g.14148874_14148890del" "" "pathogenic (recessive)" "" "0000933064" "3" "90" "3" "14190374" "14190390" "del" "0" "00006" "XPC_000048" "g.14190374_14190390del" "" "{PMID:Fassihi 2016:26884178}" "" "2176_2192del17" "" "Germline" "" "" "0" "" "" "g.14148874_14148890del" "" "pathogenic (recessive)" "" "0000933065" "3" "90" "3" "14190232" "14190232" "subst" "2.4373E-5" "00006" "XPC_000047" "g.14190232C>G" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.14148732C>G" "" "pathogenic (recessive)" "" "0000933066" "3" "90" "3" "14200140" "14200140" "subst" "1.21857E-5" "00006" "XPC_000052" "g.14200140G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.14158640G>A" "" "pathogenic (recessive)" "" "0000933067" "1" "90" "3" "14209851" "14209852" "del" "0" "00006" "XPC_000057" "g.14209851_14209852del" "" "{PMID:Fassihi 2016:26884178}" "" "445_446delGA" "" "Germline" "" "" "0" "" "" "g.14168351_14168352del" "" "pathogenic (recessive)" "" "0000933068" "3" "90" "3" "14207049" "14207049" "subst" "2.04785E-5" "00006" "XPC_000010" "g.14207049G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.14165549G>A" "" "pathogenic (recessive)" "" "0000933069" "3" "90" "3" "14207049" "14207049" "subst" "2.04785E-5" "00006" "XPC_000010" "g.14207049G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.14165549G>A" "" "pathogenic (recessive)" "" "0000933070" "3" "90" "3" "14197830" "14197830" "subst" "0" "00006" "XPC_000049" "g.14197830C>T" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.14156330C>T" "" "pathogenic (recessive)" "" "0000933071" "3" "90" "3" "14199629" "14199629" "subst" "4.06095E-6" "00006" "XPC_000051" "g.14199629T>C" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.14158129T>C" "" "pathogenic (recessive)" "" "0000933072" "3" "90" "3" "14197830" "14197830" "subst" "0" "00006" "XPC_000049" "g.14197830C>T" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.14156330C>T" "" "pathogenic (recessive)" "" "0000933115" "2" "90" "3" "14189483" "14189495" "del" "0" "00006" "XPC_000044" "g.14189483_14189495del" "" "{PMID:Fassihi 2016:26884178}" "" "2429_2441del13" "" "Germline" "" "" "0" "" "" "g.14147983_14147995del" "" "pathogenic (recessive)" "" "0000933116" "2" "90" "3" "14200362" "14200362" "subst" "0" "00006" "XPC_000054" "g.14200362C>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.14158862C>A" "" "pathogenic (recessive)" "" "0000933117" "2" "90" "3" "14190060" "14190060" "subst" "4.06593E-6" "00006" "XPC_000045" "g.14190060A>G" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.14148560A>G" "" "pathogenic (recessive)" "" "0000933118" "2" "90" "3" "14219965" "14220172" "del" "0" "00006" "XPC_000042" "g.(14214563_14219965)_(14220172_?)del" "" "{PMID:Fassihi 2016:26884178}" "" "del ex1" "" "Germline" "" "" "0" "" "" "g.(14173063_14178465)_(14178672_?)del" "" "pathogenic (recessive)" "" "0000933119" "2" "90" "3" "14190060" "14190060" "subst" "4.06593E-6" "00006" "XPC_000045" "g.14190060A>G" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.14148560A>G" "" "pathogenic (recessive)" "" "0000933120" "2" "90" "3" "14188789" "14189500" "del" "0" "00006" "XPC_000043" "g.(14187660_14188789)_(14189500_14190061)del" "" "{PMID:Fassihi 2016:26884178}" "" "del ex14-15" "" "Germline" "" "" "0" "" "" "g.(14146160_14147289)_(14148000_14148561)del" "" "pathogenic (recessive)" "" "0000933121" "2" "90" "3" "14190146" "14190146" "del" "0" "00006" "XPC_000046" "g.14190146del" "" "{PMID:Fassihi 2016:26884178}" "" "2336delT" "" "Germline" "" "" "0" "" "" "g.14148646del" "" "pathogenic (recessive)" "" "0000948049" "0" "10" "3" "14183212" "14183213" "del" "0.000227439" "02330" "TMEM43_000087" "g.14183212_14183213del" "" "" "" "TMEM43(NM_024334.3):c.1120_1121delCT (p.L374Vfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962508" "0" "10" "3" "14183153" "14183153" "subst" "0.000438817" "02330" "TMEM43_000082" "g.14183153G>C" "" "" "" "TMEM43(NM_024334.2):c.1061G>C (p.C354S), TMEM43(NM_024334.3):c.1061G>C (p.C354S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962509" "0" "30" "3" "14189402" "14189402" "subst" "6.46192E-5" "02329" "TMEM43_000141" "g.14189402G>A" "" "" "" "XPC(NM_004628.4):c.2514+6C>T, XPC(NM_004628.5):c.2514+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962510" "0" "30" "3" "14189426" "14189426" "subst" "0.000854184" "02329" "TMEM43_000180" "g.14189426A>G" "" "" "" "XPC(NM_004628.5):c.2496T>C (p.I832=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975611" "0" "10" "3" "14183232" "14183232" "subst" "1.21859E-5" "02330" "TMEM43_000136" "g.14183232C>T" "" "" "" "TMEM43(NM_024334.2):c.1140C>T (p.A380=), TMEM43(NM_024334.3):c.1140C>T (p.A380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000975612" "0" "90" "3" "14193926" "14193926" "subst" "0" "02327" "XPC_000060" "g.14193926C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975613" "0" "50" "3" "14206314" "14206314" "subst" "0" "01804" "XPC_000061" "g.14206314T>C" "" "" "" "XPC(NM_004628.5):c.899A>G (p.(His300Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975614" "0" "10" "3" "14208647" "14208647" "subst" "0.0168001" "02329" "XPC_000062" "g.14208647C>T" "" "" "" "XPC(NM_004628.5):c.621+22G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000993341" "0" "50" "3" "14190225" "14190225" "subst" "1.21851E-5" "02327" "XPC_000063" "g.14190225G>A" "" "" "" "XPC(NM_004628.5):c.2257C>T (p.(Arg753Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993343" "0" "90" "3" "14220014" "14220014" "subst" "0" "02327" "LSM3_000004" "g.14220014G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001011822" "0" "30" "3" "14206917" "14206917" "subst" "0.000317625" "03779" "XPC_000064" "g.14206917G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs199838876" "0" "" "" "" "" "likely benign" "" "0001013824" "0" "50" "3" "14183270" "14183270" "subst" "8.13259E-6" "02327" "TMEM43_000138" "g.14183270G>A" "" "" "" "TMEM43(NM_024334.2):c.1178G>A (p.(Arg393Gln)), TMEM43(NM_024334.3):c.1178G>A (p.R393Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024727" "0" "50" "3" "14183251" "14183251" "subst" "2.84373E-5" "02330" "TMEM43_000186" "g.14183251A>G" "" "" "" "TMEM43(NM_024334.3):c.1159A>G (p.I387V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024728" "0" "50" "3" "14183269" "14183269" "subst" "8.13345E-6" "02326" "TMEM43_000137" "g.14183269C>T" "" "" "" "TMEM43(NM_024334.2):c.1177C>T (p.R393W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024729" "0" "10" "3" "14199649" "14199649" "subst" "0.00117766" "02329" "XPC_000065" "g.14199649G>T" "" "" "" "XPC(NM_004628.5):c.1734C>A (p.V578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001033732" "0" "50" "3" "14190225" "14190225" "subst" "1.21851E-5" "01804" "XPC_000063" "g.14190225G>A" "" "" "" "XPC(NM_004628.5):c.2257C>T (p.(Arg753Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033733" "0" "50" "3" "14190421" "14190421" "subst" "1.62443E-5" "01804" "XPC_000066" "g.14190421G>A" "" "" "" "XPC(NM_004628.5):c.2143C>T (p.(Arg715Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033734" "0" "30" "3" "14199542" "14199542" "subst" "0.00152465" "01804" "XPC_000019" "g.14199542A>G" "" "" "" "XPC(NM_004628.4):c.1841T>C (p.F614S), XPC(NM_004628.5):c.1841T>C (p.(Phe614Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033735" "0" "50" "3" "14214374" "14214374" "subst" "0" "01804" "XPC_000067" "g.14214374C>T" "" "" "" "XPC(NM_004628.5):c.292G>A (p.(Asp98Asn))" "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 XPC ## Count = 151 "{{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}}" "0000248525" "00022926" "10" "1881" "0" "1881" "0" "c.1881=" "r.(=)" "p.(Ala627=)" "" "0000250086" "00022926" "10" "1362" "0" "1362" "0" "c.1362T>C" "r.(?)" "p.(Asp454=)" "" "0000309220" "00022926" "50" "7114" "0" "7114" "0" "c.*4291A>G" "r.(=)" "p.(=)" "" "0000309221" "00022926" "10" "7076" "0" "7076" "0" "c.*4253C>T" "r.(=)" "p.(=)" "" "0000309222" "00022926" "30" "7067" "0" "7067" "0" "c.*4244G>A" "r.(=)" "p.(=)" "" "0000311878" "00022926" "50" "6952" "0" "6952" "0" "c.*4129C>T" "r.(=)" "p.(=)" "" "0000311880" "00022926" "50" "7114" "0" "7114" "0" "c.*4291A>G" "r.(=)" "p.(=)" "" "0000311881" "00022926" "50" "7051" "0" "7052" "0" "c.*4228_*4229del" "r.(=)" "p.(=)" "" "0000313741" "00022926" "10" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Leu48Phe)" "" "0000313742" "00022926" "10" "2028" "0" "2028" "0" "c.2028C>T" "r.(?)" "p.(Tyr676=)" "" "0000313743" "00022926" "30" "2115" "17" "2115" "17" "c.2115+17G>T" "r.(=)" "p.(=)" "" "0000313745" "00022926" "30" "2782" "0" "2782" "0" "c.2782A>C" "r.(?)" "p.(Lys928Gln)" "" "0000313746" "00022926" "10" "300" "0" "300" "0" "c.300G>A" "r.(?)" "p.(Arg100=)" "" "0000313747" "00022926" "10" "622" "-16" "622" "-16" "c.622-16C>G" "r.(=)" "p.(=)" "" "0000313748" "00022926" "10" "872" "0" "872" "0" "c.872C>G" "r.(?)" "p.(Ser291Cys)" "" "0000314562" "00022926" "30" "7111" "0" "7111" "0" "c.*4288C>G" "r.(=)" "p.(=)" "" "0000314563" "00022926" "30" "7076" "0" "7076" "0" "c.*4253C>T" "r.(=)" "p.(=)" "" "0000314564" "00022926" "10" "7061" "0" "7061" "0" "c.*4238A>G" "r.(=)" "p.(=)" "" "0000315514" "00022926" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Ter)" "" "0000316702" "00022926" "10" "6953" "0" "6953" "0" "c.*4130G>A" "r.(=)" "p.(=)" "" "0000316704" "00022926" "30" "7098" "0" "7098" "0" "c.*4275C>T" "r.(=)" "p.(=)" "" "0000316705" "00022926" "10" "7076" "0" "7076" "0" "c.*4253C>T" "r.(=)" "p.(=)" "" "0000320060" "00022926" "50" "1001" "0" "1001" "0" "c.1001C>A" "r.(?)" "p.(Pro334His)" "" "0000320061" "00022926" "50" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(Arg492Cys)" "" "0000320062" "00022926" "10" "2028" "0" "2028" "0" "c.2028C>T" "r.(?)" "p.(Tyr676=)" "" "0000320063" "00022926" "50" "2420" "5" "2420" "5" "c.2420+5G>A" "r.spl?" "p.?" "" "0000320064" "00022926" "30" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(Asp101=)" "" "0000320065" "00022926" "90" "420" "0" "423" "0" "c.420_423del" "r.(?)" "p.(Glu141LeufsTer6)" "" "0000518129" "00022926" "10" "7179" "0" "7179" "0" "c.*4356A>T" "r.(=)" "p.(=)" "" "0000518130" "00022926" "50" "7141" "0" "7141" "0" "c.*4318A>C" "r.(=)" "p.(=)" "" "0000518131" "00022926" "30" "7111" "0" "7111" "0" "c.*4288C>G" "r.(=)" "p.(=)" "" "0000518132" "00022926" "30" "7111" "0" "7111" "0" "c.*4288C>G" "r.(=)" "p.(=)" "" "0000518133" "00022926" "90" "7099" "0" "7099" "0" "c.*4276G>A" "r.(=)" "p.(=)" "" "0000518134" "00022926" "50" "7099" "0" "7099" "0" "c.*4276G>A" "r.(=)" "p.(=)" "" "0000518135" "00022926" "10" "7076" "0" "7076" "0" "c.*4253C>T" "r.(=)" "p.(=)" "" "0000518136" "00022926" "10" "7061" "0" "7061" "0" "c.*4238A>G" "r.(=)" "p.(=)" "" "0000518137" "00022926" "30" "7061" "0" "7061" "0" "c.*4238A>G" "r.(=)" "p.(=)" "" "0000518138" "00022926" "50" "7060" "0" "7060" "0" "c.*4237T>C" "r.(=)" "p.(=)" "" "0000518139" "00022926" "30" "7032" "0" "7032" "0" "c.*4209G>A" "r.(=)" "p.(=)" "" "0000518140" "00022926" "30" "6995" "0" "6995" "0" "c.*4172G>A" "r.(=)" "p.(=)" "" "0000518141" "00022926" "50" "6994" "0" "6994" "0" "c.*4171C>T" "r.(=)" "p.(=)" "" "0000518142" "00022926" "30" "6994" "0" "6994" "0" "c.*4171C>T" "r.(=)" "p.(=)" "" "0000518143" "00022926" "30" "6987" "0" "6987" "0" "c.*4164T>C" "r.(=)" "p.(=)" "" "0000518144" "00022926" "10" "6961" "0" "6961" "0" "c.*4138G>A" "r.(=)" "p.(=)" "" "0000518145" "00022926" "10" "6953" "0" "6953" "0" "c.*4130G>A" "r.(=)" "p.(=)" "" "0000518146" "00022926" "10" "6953" "0" "6953" "0" "c.*4130G>A" "r.(=)" "p.(=)" "" "0000518147" "00022926" "30" "6938" "0" "6938" "0" "c.*4115A>G" "r.(=)" "p.(=)" "" "0000518148" "00022926" "10" "6854" "0" "6854" "0" "c.*4031A>G" "r.(=)" "p.(=)" "" "0000518149" "00022926" "30" "2514" "6" "2514" "6" "c.2514+6C>T" "r.(=)" "p.(=)" "" "0000518150" "00022926" "50" "2404" "0" "2404" "0" "c.2404G>A" "r.(?)" "p.(Gly802Ser)" "" "0000518151" "00022926" "30" "2331" "0" "2331" "0" "c.2331C>A" "r.(?)" "p.(Pro777=)" "" "0000518152" "00022926" "50" "2312" "0" "2312" "0" "c.2312G>A" "r.(?)" "p.(Cys771Tyr)" "" "0000518153" "00022926" "30" "2251" "-8" "2251" "-8" "c.2251-8C>T" "r.(=)" "p.(=)" "" "0000518154" "00022926" "30" "2232" "0" "2232" "0" "c.2232A>C" "r.(?)" "p.(Pro744=)" "" "0000518155" "00022926" "30" "2115" "18" "2115" "18" "c.2115+18dup" "r.(=)" "p.(=)" "" "0000518156" "00022926" "10" "1841" "0" "1841" "0" "c.1841T>C" "r.(?)" "p.(Phe614Ser)" "" "0000518157" "00022926" "50" "1780" "0" "1780" "0" "c.1780C>T" "r.(?)" "p.(Arg594Cys)" "" "0000518158" "00022926" "90" "1643" "0" "1644" "0" "c.1643_1644del" "r.(?)" "p.(Val548AlafsTer25)" "" "0000518159" "00022926" "90" "1643" "0" "1644" "0" "c.1643_1644del" "r.(?)" "p.(Val548AlafsTer25)" "" "0000518160" "00022926" "50" "1531" "0" "1531" "0" "c.1531A>C" "r.(?)" "p.(Lys511Gln)" "" "0000518161" "00022926" "30" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Ala499Thr)" "" "0000518162" "00022926" "30" "1455" "0" "1455" "0" "c.1455G>T" "r.(?)" "p.(Arg485Ser)" "" "0000518163" "00022926" "30" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393Gln)" "" "0000518164" "00022926" "30" "1049" "0" "1049" "0" "c.1049C>A" "r.(?)" "p.(Ser350Tyr)" "" "0000518165" "00022926" "10" "860" "0" "860" "0" "c.860T>G" "r.(?)" "p.(Phe287Cys)" "" "0000518166" "00022926" "30" "860" "0" "860" "0" "c.860T>G" "r.(?)" "p.(Phe287Cys)" "" "0000518167" "00022926" "50" "749" "0" "749" "0" "c.749A>G" "r.(?)" "p.(Asp250Gly)" "" "0000518168" "00022926" "90" "622" "-2" "622" "-2" "c.622-2A>G" "r.spl?" "p.?" "" "0000518169" "00022926" "90" "622" "-2" "622" "-2" "c.622-2A>G" "r.spl?" "p.?" "" "0000518170" "00022926" "90" "420" "0" "423" "0" "c.420_423del" "r.(?)" "p.(Glu141LeufsTer6)" "" "0000518171" "00022926" "30" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Leu48Phe)" "" "0000518177" "00022926" "30" "-303" "0" "-303" "0" "c.-303T>C" "r.(?)" "p.(=)" "" "0000608360" "00022926" "90" "1941" "0" "1941" "0" "c.1941T>A" "r.(?)" "p.(Tyr647Ter)" "" "0000608361" "00022926" "30" "1497" "0" "1497" "0" "c.1497G>A" "r.(?)" "p.(Ala499=)" "" "0000621189" "00022926" "30" "7031" "0" "7031" "0" "c.*4208C>T" "r.(=)" "p.(=)" "" "0000621190" "00022926" "30" "7022" "0" "7022" "0" "c.*4199G>A" "r.(=)" "p.(=)" "" "0000621191" "00022926" "50" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Glu815Lys)" "" "0000621192" "00022926" "30" "990" "10" "990" "10" "c.990+10G>A" "r.(=)" "p.(=)" "" "0000651091" "00022926" "30" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Leu48Phe)" "" "0000654819" "00022926" "30" "7032" "0" "7032" "0" "c.*4209G>A" "r.(=)" "p.(=)" "" "0000676843" "00022926" "30" "350" "0" "350" "0" "c.350C>T" "r.(?)" "p.(Thr117Ile)" "" "0000682750" "00022926" "70" "2475" "0" "2475" "0" "c.2475G>A" "r.(?)" "p.(Trp825*)" "" "0000719228" "00022926" "30" "7067" "0" "7067" "0" "c.*4244G>A" "r.(=)" "p.(=)" "" "0000719229" "00022926" "30" "1569" "0" "1569" "0" "c.1569A>C" "r.(?)" "p.(Arg523Ser)" "" "0000719231" "00022926" "10" "101" "0" "103" "0" "c.101_103del" "r.(?)" "p.(Glu34del)" "" "0000801026" "00022926" "90" "1643" "0" "1644" "0" "c.1643_1644del" "r.(?)" "p.(Val548AlafsTer25)" "" "0000801027" "00022926" "50" "1228" "0" "1230" "0" "c.1228_1230del" "r.(?)" "p.(Glu410del)" "" "0000801029" "00022926" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103Serfs*3)" "" "0000850160" "00022926" "50" "7105" "0" "7105" "0" "c.*4282G>T" "r.(=)" "p.(=)" "" "0000850161" "00022926" "10" "7031" "0" "7031" "0" "c.*4208C>T" "r.(=)" "p.(=)" "" "0000858828" "00022926" "90" "7099" "0" "7099" "0" "c.*4276G>A" "r.(=)" "p.(=)" "" "0000858829" "00022926" "30" "214" "0" "214" "0" "c.214A>G" "r.(?)" "p.(Lys72Glu)" "" "0000858833" "00022926" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000885585" "00022926" "90" "814" "0" "814" "0" "c.814dup" "r.(?)" "p.(Ser272Phefs*4)" "" "0000928722" "00022926" "50" "1531" "0" "1531" "0" "c.1531A>C" "r.(?)" "p.(Lys511Gln)" "" "0000928723" "00022926" "10" "1443" "0" "1443" "0" "c.1443G>T" "r.(?)" "p.(Lys481Asn)" "" "0000928724" "00022926" "30" "1001" "0" "1001" "0" "c.1001C>A" "r.(?)" "p.(Pro334His)" "" "0000933045" "00022926" "90" "299" "2" "299" "2" "c.299+2del" "r.spl" "p.?" "" "0000933046" "00022926" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415*)" "" "0000933047" "00022926" "90" "924" "0" "938" "0" "c.924_938del" "r.(?)" "p.(Leu309_Thr313del)" "" "0000933048" "00022926" "90" "1808" "0" "1808" "0" "c.1808G>A" "r.(?)" "p.(Trp603*)" "" "0000933049" "00022926" "90" "1111" "0" "1111" "0" "c.1111del" "r.(?)" "p.(Thr371Profs*155)" "" "0000933050" "00022926" "90" "1808" "0" "1808" "0" "c.1808G>A" "r.(?)" "p.(Trp603*)" "" "0000933051" "00022926" "90" "2176" "0" "2192" "0" "c.2176_2192del" "r.(?)" "p.(Glu726Profs*67)" "" "0000933052" "00022926" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415*)" "" "0000933053" "00022926" "90" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293*)" "" "0000933054" "00022926" "90" "395" "0" "398" "0" "c.395_398del" "r.(?)" "p.(Asp132Glyfs*15)" "" "0000933055" "00022926" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415*)" "" "0000933056" "00022926" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415*)" "" "0000933057" "00022926" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415*)" "" "0000933058" "00022926" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415*)" "" "0000933059" "00022926" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415*)" "" "0000933060" "00022926" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415*)" "" "0000933061" "00022926" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415*)" "" "0000933062" "00022926" "90" "2176" "0" "2192" "0" "c.2176_2192del" "r.(?)" "p.(Glu726Profs*67)" "" "0000933063" "00022926" "90" "2176" "0" "2192" "0" "c.2176_2192del" "r.(?)" "p.(Glu726Profs*67)" "" "0000933064" "00022926" "90" "2176" "0" "2192" "0" "c.2176_2192del" "r.(?)" "p.(Glu726Profs*67)" "" "0000933065" "00022926" "90" "2251" "-1" "2251" "-1" "c.2251-1G>C" "r.spl" "p.?" "" "0000933066" "00022926" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415*)" "" "0000933067" "00022926" "90" "445" "0" "446" "0" "c.445_446del" "r.(?)" "p.(Glu149Lysfs*19)" "" "0000933068" "00022926" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220*)" "" "0000933069" "00022926" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220*)" "" "0000933070" "00022926" "90" "2033" "5" "2033" "5" "c.2033+5G>A" "r.spl" "p.?" "" "0000933071" "00022926" "90" "1754" "0" "1754" "0" "c.1754A>G" "r.(?)" "p.(Tyr585Cys)" "" "0000933072" "00022926" "90" "2033" "5" "2033" "5" "c.2033+5G>A" "r.spl" "p.?" "" "0000933115" "00022926" "90" "2429" "0" "2441" "0" "c.2429_2441del" "r.(?)" "p.(Gly810Alafs*9)" "" "0000933116" "00022926" "90" "1021" "0" "1021" "0" "c.1021G>T" "r.(?)" "p.(Ala341Ser)" "" "0000933117" "00022926" "90" "2420" "2" "2420" "2" "c.2420+2T>C" "r.spl" "p.?" "" "0000933118" "00022926" "90" "0" "0" "0" "0" "c.-104_(){0}" "r.0?" "p.0?" "_1_1i" "0000933119" "00022926" "90" "2420" "2" "2420" "2" "c.2420+2T>C" "r.spl" "p.?" "" "0000933120" "00022926" "90" "2423" "-1" "2604" "1" "c.(2420+1_2423-1)_(2604+1_2605-1)del" "r.?" "p.?" "13i_15i" "0000933121" "00022926" "90" "2336" "0" "2336" "0" "c.2336del" "r.(?)" "p.(Leu779Hisfs*29)" "" "0000948049" "00022926" "10" "7051" "0" "7052" "0" "c.*4228_*4229del" "r.(=)" "p.(=)" "" "0000962508" "00022926" "10" "7111" "0" "7111" "0" "c.*4288C>G" "r.(=)" "p.(=)" "" "0000962509" "00022926" "30" "2514" "6" "2514" "6" "c.2514+6C>T" "r.(=)" "p.(=)" "" "0000962510" "00022926" "30" "2496" "0" "2496" "0" "c.2496T>C" "r.(?)" "p.(=)" "" "0000975611" "00022926" "10" "7032" "0" "7032" "0" "c.*4209G>A" "r.(=)" "p.(=)" "" "0000975612" "00022926" "90" "2034" "-10" "2034" "-10" "c.2034-10G>A" "r.(=)" "p.(=)" "" "0000975613" "00022926" "50" "899" "0" "899" "0" "c.899A>G" "r.(?)" "p.(His300Arg)" "" "0000975614" "00022926" "10" "621" "22" "621" "22" "c.621+22G>A" "r.(=)" "p.(=)" "" "0000993341" "00022926" "50" "2257" "0" "2257" "0" "c.2257C>T" "r.(?)" "p.(Arg753Trp)" "" "0000993343" "00022926" "90" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Gln19*)" "" "0001011822" "00022926" "30" "779" "11" "779" "11" "c.779+11C>T" "r.(?)" "p.(?)" "" "0001013824" "00022926" "50" "6994" "0" "6994" "0" "c.*4171C>T" "r.(=)" "p.(=)" "" "0001024727" "00022926" "50" "7013" "0" "7013" "0" "c.*4190T>C" "r.(=)" "p.(=)" "" "0001024728" "00022926" "50" "6995" "0" "6995" "0" "c.*4172G>A" "r.(=)" "p.(=)" "" "0001024729" "00022926" "10" "1734" "0" "1734" "0" "c.1734C>A" "r.(?)" "p.(=)" "" "0001033732" "00022926" "50" "2257" "0" "2257" "0" "c.2257C>T" "r.(?)" "p.(Arg753Trp)" "" "0001033733" "00022926" "50" "2143" "0" "2143" "0" "c.2143C>T" "r.(?)" "p.(Arg715Trp)" "" "0001033734" "00022926" "30" "1841" "0" "1841" "0" "c.1841T>C" "r.(?)" "p.(Phe614Ser)" "" "0001033735" "00022926" "50" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Asp98Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 37 "{{screeningid}}" "{{variantid}}" "0000294402" "0000651091" "0000308399" "0000682750" "0000437693" "0000933045" "0000437693" "0000933115" "0000437694" "0000933046" "0000437695" "0000933047" "0000437695" "0000933116" "0000437696" "0000933048" "0000437696" "0000933117" "0000437697" "0000933049" "0000437697" "0000933118" "0000437698" "0000933050" "0000437698" "0000933119" "0000437699" "0000933051" "0000437700" "0000933052" "0000437701" "0000933053" "0000437702" "0000933054" "0000437702" "0000933120" "0000437703" "0000933055" "0000437704" "0000933056" "0000437705" "0000933057" "0000437706" "0000933058" "0000437707" "0000933059" "0000437708" "0000933060" "0000437709" "0000933061" "0000437710" "0000933062" "0000437711" "0000933063" "0000437712" "0000933064" "0000437713" "0000933065" "0000437714" "0000933066" "0000437715" "0000933067" "0000437715" "0000933121" "0000437716" "0000933068" "0000437717" "0000933069" "0000437718" "0000933070" "0000437719" "0000933071" "0000437720" "0000933072"