### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CEP152) # 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}}" "CEP152" "centrosomal protein 152kDa" "15" "q21.1" "unknown" "NC_000015.9" "UD_130822472286" "" "https://www.LOVD.nl/CEP152" "" "1" "29298" "22995" "613529" "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/CEP152_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-03-14 15:29:05" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00004998" "CEP152" "transcript variant 2" "001" "NM_014985.3" "" "NP_055800.2" "" "" "" "-193" "5276" "4965" "49103343" "49030135" "" "0000-00-00 00:00:00" "" "" "00025820" "CEP152" "transcript variant 1" "002" "NM_001194998.1" "" "NP_001181927.1" "" "" "" "-193" "5444" "5133" "49103343" "49030135" "00006" "2023-03-14 15:26:27" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00126" "SCKL" "Seckel syndrome (SCKL)" "" "" "" "" "" "00006" "2013-05-07 07:32:22" "00006" "2023-03-14 15:38:11" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00274" "SCKL5" "Seckel syndrome, type 5 (SCKL-5)" "AR" "613823" "" "" "" "00006" "2013-11-22 15:19:05" "00006" "2021-12-10 21:51:32" "05151" "MCPH9" "microcephaly, type 9, primary, autosomal recessive (MCPH-9)" "AR" "614852" "" "" "" "00006" "2016-04-14 15:46:47" "00006" "2021-12-10 21:51:32" "05153" "MCPH" "microcephaly, primary, autosomal recessive (MCPH)" "" "" "" "" "" "00006" "2016-04-14 15:50:58" "00006" "2016-07-05 08:24:40" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "CEP152" "00126" "CEP152" "00139" "CEP152" "00274" "CEP152" "05151" "CEP152" "05153" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00050615" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00206476" "" "" "" "1" "" "00000" "" "" "F" "" "Canada" "" "0" "" "" "Acadian (East Canada)" "" "00206477" "" "" "" "1" "" "00000" "" "Non Affected Mother of 1669" "F" "" "Canada" "" "0" "" "" "Acadian (East Canada)" "" "00206478" "" "" "" "1" "" "00000" "" "Non Affected Father of 1669" "M" "" "Canada" "" "0" "" "" "Acadian (East Canada)" "" "00206479" "" "" "" "1" "" "00000" "" "" "M" "" "Canada" "" "0" "" "" "Acadian (East Canada)" "" "00206480" "" "" "" "1" "" "00000" "" "Non Affected Mother of 1672" "F" "" "Canada" "" "0" "" "" "Acadian (East Canada)" "" "00206481" "" "" "" "1" "" "00000" "" "Non Affected Father of 1672" "M" "" "Canada" "" "0" "" "" "Acadian (East Canada)" "" "00206482" "" "" "" "1" "" "00000" "" "Non affected parent of 1937" "?" "" "Canada" "" "0" "" "" "Acadian (East Canada)" "" "00206483" "" "" "" "1" "" "00000" "" "" "F" "" "Canada" "" "0" "" "" "Acadian (East Canada)" "" "00206484" "" "" "" "1" "" "00000" "{PMID:Guernsey 2010:20598275}" "Non affected parent of 1937" "?" "" "Canada" "" "0" "" "" "Acadian (East Canada)" "" "00206485" "" "" "" "1" "" "00000" "{PMID:Kalay 2011:21131973}" "" "M" "" "South Africa" "" "0" "" "" "" "" "00206486" "" "" "" "1" "" "00000" "{PMID:Kalay 2011:21131973}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00206487" "" "" "" "1" "" "00000" "{PMID:Kalay 2011:21131973}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00206488" "" "" "" "1" "" "00000" "{PMID:Kalay 2011:21131973}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00206489" "" "" "" "1" "" "00000" "{PMID:Kalay 2011:21131973}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00206490" "" "" "" "1" "" "00000" "{PMID:Kalay 2011:21131973}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00206491" "" "" "" "1" "" "00000" "{PMID:Kalay 2011:21131973}" "" "M" "" "France" "" "0" "" "" "Turkish" "" "00206492" "" "" "" "1" "" "00000" "{PMID:Kalay 2011:21131973}" "" "F" "" "Germany" "" "0" "" "" "Italian" "" "00433351" "" "" "" "2" "" "00006" "{PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021: 34402213}" "family, affected brother/sister" "M" "no" "Belgium" "" "0" "" "" "" "Pat21;Pat20" "00433352" "" "" "" "1" "" "00006" "{PMID:Duerinckx 2021: 34402213}" "patient" "M" "no" "" "" "0" "" "" "white" "Pat21" "00433761" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP43" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00050615" "00198" "00206476" "05151" "00206477" "00000" "00206478" "00000" "00206479" "05151" "00206480" "00000" "00206481" "00000" "00206482" "00000" "00206483" "05151" "00206484" "00000" "00206485" "00274" "00206486" "00274" "00206487" "00274" "00206488" "00274" "00206489" "00274" "00206490" "00274" "00206491" "00274" "00206492" "00274" "00433351" "05421" "00433352" "05421" "00433761" "05421" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00126, 00139, 00198, 00274, 05151, 05153, 05421 ## Count = 4 "{{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}}" "0000037227" "00198" "00050615" "00006" "Unknown" "" "postnatal microcephaly, hypopigmentation of the skin, global developmental delay, generalized seizures" "" "" "" "" "" "" "" "" "" "" "" "0000323872" "05421" "00433351" "00006" "Familial, autosomal recessive" "22y" "primary microcephaly; birth OFC (SD-2), weigth median, length median; OFC (SD-6.5), weigth (SD-1.5), length (SD-1); no epilepsy; IQ60 (Mc Carthy); birth OFC (SD-2), weigth median, length median; OFC (SD-6.5), weigth (SD-1.5), length (SD-1); no epilepsy; IQ60 (Mc Carthy)" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323873" "05421" "00433352" "00006" "Familial, autosomal recessive" "3y6m" "primary microcephaly; birth OFC (SD-3), weigth (SD-1), length (SD-1.5); OFC (SD-4), length (SD1); no epilepsy; IQ87; MRI normal; birth OFC (SD-3), weigth (SD-1), length (SD-1.5); OFC (SD-4), length (SD1); no epilepsy; IQ87; MRI normal" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000324183" "05421" "00433761" "00006" "Familial, autosomal recessive" "" "microcephaly; speak complete sentences, self-care skills, self-injurious" "" "" "" "" "" "" "" "" "MCPH9" "microcephaly" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050560" "00050615" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000207508" "00206476" "1" "00000" "00115" "2010-08-16 11:43:49" "" "" "SEQ" "DNA" "" "" "0000207509" "00206477" "1" "00000" "00115" "2010-08-16 11:43:49" "" "" "SEQ" "DNA" "" "" "0000207510" "00206478" "1" "00000" "00115" "2010-08-16 11:43:49" "" "" "SEQ" "DNA" "" "" "0000207511" "00206479" "1" "00000" "00115" "2010-08-16 11:43:49" "" "" "SEQ" "DNA" "" "" "0000207512" "00206480" "1" "00000" "00115" "2010-08-16 11:43:49" "" "" "SEQ" "DNA" "" "" "0000207513" "00206481" "1" "00000" "00115" "2010-08-16 11:43:49" "" "" "SEQ" "DNA" "" "" "0000207514" "00206482" "1" "00000" "00115" "2010-08-16 11:43:49" "" "" "SEQ" "DNA" "" "" "0000207515" "00206483" "1" "00000" "00115" "2010-08-16 11:43:49" "" "" "SEQ" "DNA" "" "" "0000207516" "00206484" "1" "00000" "00000" "2010-08-16 11:43:49" "" "" "SEQ" "DNA" "" "" "0000207517" "00206485" "1" "00000" "00002" "2011-06-16 13:41:39" "" "" "SEQ" "DNA" "" "" "0000207518" "00206486" "1" "00000" "00002" "2011-06-16 13:41:39" "" "" "SEQ" "DNA" "" "" "0000207519" "00206487" "1" "00000" "00002" "2011-06-16 13:41:39" "" "" "SEQ" "DNA" "" "" "0000207520" "00206488" "1" "00000" "00002" "2011-06-16 13:41:39" "" "" "SEQ" "DNA" "" "" "0000207521" "00206489" "1" "00000" "00002" "2011-06-16 13:41:39" "" "" "SEQ" "DNA" "" "" "0000207522" "00206490" "1" "00000" "00002" "2011-06-16 13:41:39" "" "" "SEQ" "DNA" "" "" "0000207523" "00206491" "1" "00000" "00002" "2011-06-16 13:41:39" "" "" "SEQ" "DNA" "" "" "0000207524" "00206492" "1" "00000" "00002" "2011-06-16 13:41:39" "" "" "SEQ" "DNA" "" "" "0000434805" "00433351" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434806" "00433352" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000435223" "00433761" "1" "00006" "00006" "2023-03-14 15:45:46" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000050560" "CEP152" "0000207508" "CEP152" "0000207509" "CEP152" "0000207510" "CEP152" "0000207511" "CEP152" "0000207512" "CEP152" "0000207513" "CEP152" "0000207514" "CEP152" "0000207515" "CEP152" "0000207516" "CEP152" "0000207517" "CEP152" "0000207518" "CEP152" "0000207519" "CEP152" "0000207520" "CEP152" "0000207521" "CEP152" "0000207522" "CEP152" "0000207523" "CEP152" "0000207524" "CEP152" "0000435223" "CEP152" ## 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 = 159 "{{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}}" "0000079540" "11" "90" "15" "49033814" "49033814" "subst" "0.000268249" "00006" "CEP152_000017" "g.49033814G>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.48741617G>C" "" "pathogenic" "" "0000079687" "11" "90" "15" "49037112" "49037112" "subst" "0.000261414" "00006" "CEP152_000025" "g.49037112G>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.48744915G>C" "" "pathogenic" "" "0000079688" "21" "90" "15" "49060434" "49060434" "subst" "0.00102567" "00006" "CEP152_000007" "g.49060434T>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.48768237T>C" "" "pathogenic" "" "0000253518" "0" "10" "15" "49030722" "49030722" "subst" "0.00145228" "01943" "CEP152_000013" "g.49030722A>G" "" "" "" "CEP152(NM_001194998.1):c.4857T>C (p.D1619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48738525A>G" "" "benign" "" "0000253707" "0" "10" "15" "49048128" "49048128" "subst" "0.00697414" "01943" "CEP152_000029" "g.49048128A>G" "" "" "" "CEP152(NM_001194998.1):c.3317T>C (p.V1106A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48755931A>G" "" "benign" "" "0000254254" "0" "30" "15" "49031259" "49031259" "subst" "0.000134109" "01943" "CEP152_000016" "g.49031259A>G" "" "" "" "CEP152(NM_001194998.1):c.4320T>C (p.H1440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48739062A>G" "" "likely benign" "" "0000254522" "0" "30" "15" "49085583" "49085583" "subst" "0.000268195" "01943" "CEP152_000050" "g.49085583A>G" "" "" "" "CEP152(NM_001194998.1):c.767T>C (p.I256T, p.(Ile256Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48793386A>G" "" "likely benign" "" "0000266662" "0" "30" "15" "49059522" "49059522" "subst" "0.00010968" "02325" "CEP152_000037" "g.49059522T>G" "" "" "" "CEP152(NM_001194998.2):c.2147+10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48767325T>G" "" "likely benign" "" "0000266663" "0" "50" "15" "49034159" "49034159" "subst" "4.06455E-6" "02325" "CEP152_000020" "g.49034159T>C" "" "" "" "CEP152(NM_001194998.1):c.3974A>G (p.D1325G), CEP152(NM_001194998.2):c.3974A>G (p.D1325G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48741962T>C" "" "VUS" "" "0000266664" "0" "10" "15" "49088198" "49088198" "subst" "0.0712403" "02325" "CEP152_000051" "g.49088198G>A" "" "" "" "CEP152(NM_001194998.1):c.691+9C>T, CEP152(NM_001194998.2):c.691+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48796001G>A" "" "benign" "" "0000266665" "0" "10" "15" "49083577" "49083577" "subst" "0.398586" "02325" "CEP152_000049" "g.49083577C>T" "" "" "" "CEP152(NM_001194998.1):c.833-4G>A, CEP152(NM_001194998.2):c.833-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48791380C>T" "" "benign" "" "0000266666" "0" "30" "15" "49097749" "49097749" "dup" "0" "02325" "CEP152_000062" "g.49097749dup" "" "" "" "CEP152(NM_001194998.2):c.87+27dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48805552dup" "" "likely benign" "" "0000269969" "0" "90" "15" "49061152" "49061152" "subst" "5.86619E-5" "02326" "CEP152_000040" "g.49061152C>A" "" "" "" "CEP152(NM_001194998.2):c.1908+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48768955C>A" "" "pathogenic" "" "0000269970" "0" "90" "15" "49088231" "49088231" "subst" "4.06342E-6" "02326" "CEP152_000053" "g.49088231G>A" "" "" "" "CEP152(NM_001194998.1):c.667C>T (p.(Gln223Ter)), CEP152(NM_001194998.2):c.667C>T (p.Q223*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48796034G>A" "" "pathogenic" "" "0000273149" "0" "30" "15" "49081061" "49081061" "subst" "0" "01943" "CEP152_000043" "g.49081061G>A" "" "" "" "CEP152(NM_001194998.1):c.1110C>T (p.Y370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48788864G>A" "" "likely benign" "" "0000273150" "0" "30" "15" "49076311" "49076311" "subst" "0.00241862" "01943" "CEP152_000042" "g.49076311T>C" "" "" "" "CEP152(NM_001194998.1):c.1180A>G (p.I394V, p.(Ile394Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48784114T>C" "" "likely benign" "" "0000273151" "0" "10" "15" "49090175" "49090175" "subst" "0.0589798" "01943" "CEP152_000060" "g.49090175G>A" "" "" "" "CEP152(NM_001194998.1):c.161C>T (p.S54L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48797978G>A" "" "benign" "" "0000273152" "0" "30" "15" "49090165" "49090165" "subst" "1.22013E-5" "01943" "CEP152_000059" "g.49090165G>A" "" "" "" "CEP152(NM_001194998.1):c.171C>T (p.S57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48797968G>A" "" "likely benign" "" "0000273153" "0" "10" "15" "49090134" "49090134" "subst" "0.0351154" "01943" "CEP152_000058" "g.49090134C>T" "" "" "" "CEP152(NM_001194998.1):c.191+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48797937C>T" "" "benign" "" "0000273154" "0" "10" "15" "49060434" "49060434" "subst" "0.00102567" "01943" "CEP152_000007" "g.49060434T>C" "" "" "" "CEP152(NM_001194998.1):c.2000A>G (p.K667R), CEP152(NM_001194998.2):c.2000A>G (p.(Lys667Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48768237T>C" "" "benign" "" "0000273155" "0" "10" "15" "49059673" "49059673" "subst" "0.0329265" "01943" "CEP152_000039" "g.49059673C>T" "" "" "" "CEP152(NM_001194998.1):c.2019-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48767476C>T" "" "benign" "" "0000273156" "0" "50" "15" "49059611" "49059611" "subst" "6.4992E-5" "01943" "CEP152_000038" "g.49059611G>A" "" "" "" "CEP152(NM_001194998.1):c.2068C>T (p.R690C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48767414G>A" "" "VUS" "" "0000273157" "0" "30" "15" "49059275" "49059275" "subst" "0.00194629" "01943" "CEP152_000036" "g.49059275C>T" "" "" "" "CEP152(NM_001194998.1):c.2262G>A (p.E754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48767078C>T" "" "likely benign" "" "0000273158" "0" "10" "15" "49054772" "49054772" "subst" "0.0196251" "01943" "CEP152_000035" "g.49054772C>A" "" "" "" "CEP152(NM_001194998.1):c.2378G>T (p.S793I, p.(Ser793Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48762575C>A" "" "benign" "" "0000273159" "0" "10" "15" "49048705" "49048705" "subst" "0.0716722" "01943" "CEP152_000033" "g.49048705G>C" "" "" "" "CEP152(NM_001194998.1):c.2740C>G (p.L914V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48756508G>C" "" "benign" "" "0000273160" "0" "30" "15" "49048610" "49048610" "subst" "0" "01943" "CEP152_000032" "g.49048610G>C" "" "" "" "CEP152(NM_001194998.1):c.2835C>G (p.V945=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48756413G>C" "" "likely benign" "" "0000273161" "0" "50" "15" "49048461" "49048461" "subst" "6.45289E-5" "01943" "CEP152_000031" "g.49048461G>A" "" "" "" "CEP152(NM_001194998.1):c.2984C>T (p.A995V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48756264G>A" "" "VUS" "" "0000273162" "0" "50" "15" "49048132" "49048132" "subst" "0.00137374" "01943" "CEP152_000030" "g.49048132G>C" "" "" "" "CEP152(NM_001194998.1):c.3313C>G (p.L1105V, p.(Leu1105Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48755935G>C" "" "VUS" "" "0000273163" "0" "30" "15" "49044657" "49044657" "subst" "0.000126045" "01943" "CEP152_000028" "g.49044657C>T" "" "" "" "CEP152(NM_001194998.1):c.3355G>A (p.A1119T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48752460C>T" "" "likely benign" "" "0000273164" "0" "30" "15" "49044590" "49044590" "subst" "0" "01943" "CEP152_000027" "g.49044590T>C" "" "" "" "CEP152(NM_001194998.1):c.3422A>G (p.H1141R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48752393T>C" "" "likely benign" "" "0000273165" "0" "30" "15" "49089694" "49089694" "subst" "0.0026935" "01943" "CEP152_000056" "g.49089694C>T" "" "" "" "CEP152(NM_001194998.1):c.344G>A (p.R115Q, p.(Arg115Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48797497C>T" "" "likely benign" "" "0000273166" "0" "10" "15" "49044538" "49044538" "subst" "0.193305" "01943" "CEP152_000026" "g.49044538C>G" "" "" "" "CEP152(NM_001194998.1):c.3466+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48752341C>G" "" "benign" "" "0000273167" "0" "30" "15" "49037095" "49037095" "subst" "0.000508213" "01943" "CEP152_000024" "g.49037095T>C" "" "" "" "CEP152(NM_001194998.1):c.3729A>G (p.P1243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48744898T>C" "" "likely benign" "" "0000273168" "0" "50" "15" "49034198" "49034198" "subst" "1.62553E-5" "01943" "CEP152_000021" "g.49034198C>T" "" "" "" "CEP152(NM_001194998.1):c.3935G>A (p.R1312H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48742001C>T" "" "VUS" "" "0000273169" "0" "50" "15" "49034159" "49034159" "subst" "4.06455E-6" "01943" "CEP152_000020" "g.49034159T>C" "" "" "" "CEP152(NM_001194998.1):c.3974A>G (p.D1325G), CEP152(NM_001194998.2):c.3974A>G (p.D1325G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48741962T>C" "" "VUS" "" "0000273170" "0" "90" "15" "49033893" "49033894" "del" "0" "01943" "CEP152_000018" "g.49033893_49033894del" "" "" "" "CEP152(NM_001194998.1):c.4000_4001delAA (p.K1334Dfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48741696_48741697del" "" "pathogenic" "" "0000273171" "0" "30" "15" "49030959" "49030959" "subst" "2.03236E-5" "01943" "CEP152_000014" "g.49030959T>C" "" "" "" "CEP152(NM_001194998.1):c.4620A>G (p.P1540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48738762T>C" "" "likely benign" "" "0000273173" "0" "30" "15" "49030665" "49030665" "subst" "0.000983492" "01943" "CEP152_000012" "g.49030665T>C" "" "" "" "CEP152(NM_001194998.1):c.4914A>G (p.P1638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48738468T>C" "" "likely benign" "" "0000273174" "0" "30" "15" "49030500" "49030500" "subst" "0.000809358" "01943" "CEP152_000010" "g.49030500C>T" "" "" "" "CEP152(NM_001194998.1):c.5079G>A (p.P1693=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48738303C>T" "" "likely benign" "" "0000273175" "0" "30" "15" "49030464" "49030464" "subst" "0.000619614" "01943" "CEP152_000009" "g.49030464T>C" "" "" "" "CEP152(NM_001194998.1):c.5115A>G (p.P1705=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48738267T>C" "" "likely benign" "" "0000273176" "0" "30" "15" "49088254" "49088254" "subst" "0.000255937" "01943" "CEP152_000054" "g.49088254C>T" "" "" "" "CEP152(NM_001194998.1):c.644G>A (p.S215N, p.(Ser215Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48796057C>T" "" "likely benign" "" "0000273177" "0" "10" "15" "49088198" "49088198" "subst" "0.0712403" "01943" "CEP152_000051" "g.49088198G>A" "" "" "" "CEP152(NM_001194998.1):c.691+9C>T, CEP152(NM_001194998.2):c.691+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48796001G>A" "" "benign" "" "0000273178" "0" "10" "15" "49083577" "49083577" "subst" "0.398586" "01943" "CEP152_000049" "g.49083577C>T" "" "" "" "CEP152(NM_001194998.1):c.833-4G>A, CEP152(NM_001194998.2):c.833-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48791380C>T" "" "benign" "" "0000273179" "0" "30" "15" "49090255" "49090255" "subst" "0" "01943" "CEP152_000061" "g.49090255C>T" "" "" "" "CEP152(NM_001194998.1):c.88-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48798058C>T" "" "likely benign" "" "0000273180" "0" "30" "15" "49083481" "49083481" "subst" "0.000256485" "01943" "CEP152_000048" "g.49083481T>G" "" "" "" "CEP152(NM_001194998.1):c.925A>C (p.K309Q, p.(Lys309Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48791284T>G" "" "likely benign" "" "0000273181" "0" "10" "15" "49083415" "49083415" "subst" "0.00010371" "01943" "CEP152_000046" "g.49083415C>T" "" "" "" "CEP152(NM_001194998.1):c.972+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48791218C>T" "" "benign" "" "0000273182" "0" "50" "15" "49081190" "49081190" "subst" "4.06147E-6" "01943" "CEP152_000045" "g.49081190C>G" "" "" "" "CEP152(NM_001194998.1):c.981G>C (p.K327N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48788993C>G" "" "VUS" "" "0000273183" "0" "30" "15" "49081189" "49081189" "subst" "0.000243685" "01943" "CEP152_000044" "g.49081189T>G" "" "" "" "CEP152(NM_001194998.1):c.982A>C (p.K328Q, p.(Lys328Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48788992T>G" "" "likely benign" "" "0000324092" "0" "50" "15" "49030501" "49030501" "subst" "0.00320484" "01804" "CEP152_000011" "g.49030501G>A" "" "" "" "CEP152(NM_001194998.1):c.5078C>T (p.P1693L, p.(Pro1693Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48738304G>A" "" "VUS" "" "0000324093" "0" "50" "15" "49031225" "49031225" "subst" "8.12929E-6" "01804" "CEP152_000015" "g.49031225G>A" "" "" "" "CEP152(NM_001194998.1):c.4354C>T (p.(His1452Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48739028G>A" "" "VUS" "" "0000324094" "0" "50" "15" "49033905" "49033905" "subst" "0" "01804" "CEP152_000019" "g.49033905T>C" "" "" "" "CEP152(NM_001194998.1):c.3990-4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48741708T>C" "" "VUS" "" "0000324095" "0" "50" "15" "49034199" "49034199" "subst" "0.000146305" "01804" "CEP152_000022" "g.49034199G>A" "" "" "" "CEP152(NM_001194998.1):c.3934C>T (p.(Arg1312Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48742002G>A" "" "VUS" "" "0000324096" "0" "50" "15" "49034286" "49034286" "subst" "1.62592E-5" "01804" "CEP152_000023" "g.49034286G>A" "" "" "" "CEP152(NM_001194998.1):c.3847C>T (p.(Arg1283Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48742089G>A" "" "VUS" "" "0000324097" "0" "50" "15" "49054632" "49054632" "subst" "0.00103623" "01804" "CEP152_000034" "g.49054632C>T" "" "" "" "CEP152(NM_001194998.1):c.2518G>A (p.(Glu840Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48762435C>T" "" "VUS" "" "0000324098" "0" "50" "15" "49064811" "49064811" "subst" "1.62518E-5" "01804" "CEP152_000041" "g.49064811C>T" "" "" "" "CEP152(NM_001194998.1):c.1655G>A (p.(Arg552His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48772614C>T" "" "VUS" "" "0000324099" "0" "50" "15" "49083444" "49083444" "subst" "3.26757E-5" "01804" "CEP152_000047" "g.49083444T>C" "" "" "" "CEP152(NM_001194998.1):c.962A>G (p.N321S, p.(Asn321Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48791247T>C" "" "VUS" "" "0000324100" "0" "50" "15" "49088213" "49088213" "subst" "9.75332E-5" "01804" "CEP152_000052" "g.49088213T>G" "" "" "" "CEP152(NM_001194998.1):c.685A>C (p.(Asn229His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48796016T>G" "" "VUS" "" "0000324101" "0" "50" "15" "49088231" "49088231" "subst" "4.06342E-6" "01804" "CEP152_000053" "g.49088231G>A" "" "" "" "CEP152(NM_001194998.1):c.667C>T (p.(Gln223Ter)), CEP152(NM_001194998.2):c.667C>T (p.Q223*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48796034G>A" "" "VUS" "" "0000324102" "0" "50" "15" "49089779" "49089779" "subst" "0" "01804" "CEP152_000057" "g.49089779A>G" "" "" "" "CEP152(NM_001194998.1):c.262-3T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48797582A>G" "" "VUS" "" "0000324103" "0" "50" "15" "49097762" "49097762" "subst" "0" "01804" "CEP152_000063" "g.49097762C>T" "" "" "" "CEP152(NM_001194998.1):c.85G>A (p.(Glu29Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48805565C>T" "" "VUS" "" "0000338322" "0" "10" "15" "49083577" "49083577" "subst" "0.398586" "02327" "CEP152_000049" "g.49083577C>T" "" "" "" "CEP152(NM_001194998.1):c.833-4G>A, CEP152(NM_001194998.2):c.833-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48791380C>T" "" "benign" "" "0000338324" "0" "10" "15" "49090134" "49090134" "subst" "0.0351154" "02327" "CEP152_000058" "g.49090134C>T" "" "" "" "CEP152(NM_001194998.1):c.191+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48797937C>T" "" "benign" "" "0000338325" "0" "10" "15" "49103174" "49103174" "subst" "0" "02327" "CEP152_000064" "g.49103174T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48810977T>A" "" "benign" "" "0000338326" "0" "10" "15" "49103176" "49103176" "subst" "0" "02327" "CEP152_000065" "g.49103176T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48810979T>A" "" "benign" "" "0000338327" "0" "10" "15" "49103244" "49103244" "subst" "0" "02327" "CEP152_000066" "g.49103244T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48811047T>C" "" "benign" "" "0000344672" "0" "90" "15" "49088231" "49088231" "subst" "4.06342E-6" "02327" "CEP152_000053" "g.49088231G>A" "" "" "" "CEP152(NM_001194998.1):c.667C>T (p.(Gln223Ter)), CEP152(NM_001194998.2):c.667C>T (p.Q223*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48796034G>A" "" "pathogenic" "" "0000347343" "0" "10" "15" "49048705" "49048705" "subst" "0.0716722" "02327" "CEP152_000033" "g.49048705G>C" "" "" "" "CEP152(NM_001194998.1):c.2740C>G (p.L914V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48756508G>C" "" "benign" "" "0000350298" "0" "50" "15" "49031201" "49031202" "del" "0" "02327" "CEP152_000008" "g.49031201_49031202del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48739004_48739005del" "" "VUS" "" "0000351247" "0" "10" "15" "49044538" "49044538" "subst" "0.193305" "02327" "CEP152_000026" "g.49044538C>G" "" "" "" "CEP152(NM_001194998.1):c.3466+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48752341C>G" "" "benign" "" "0000437170" "11" "95" "15" "49085556" "49085556" "subst" "1.21887E-5" "00000" "CEP152_000002" "g.49085556T>G" "" "{PMID:Guernsey 2010:20598275}" "" "Q265P" "" "Unknown" "" "" "0" "" "" "g.48793359T>G" "" "pathogenic" "" "0000437171" "21" "95" "15" "49085556" "49085556" "subst" "1.21887E-5" "00000" "CEP152_000002" "g.49085556T>G" "" "{PMID:Guernsey 2010:20598275}" "" "Q265P" "" "Unknown" "" "" "0" "" "" "g.48793359T>G" "" "pathogenic" "" "0000437172" "0" "35" "15" "49085556" "49085556" "subst" "1.21887E-5" "00000" "CEP152_000002" "g.49085556T>G" "" "{PMID:Guernsey 2010:20598275}" "" "Q265P" "" "Unknown" "" "" "0" "" "" "g.48793359T>G" "" "likely benign" "" "0000437173" "0" "35" "15" "49085556" "49085556" "subst" "1.21887E-5" "00000" "CEP152_000002" "g.49085556T>G" "" "{PMID:Guernsey 2010:20598275}" "" "Q265P" "" "Unknown" "" "" "0" "" "" "g.48793359T>G" "" "likely benign" "" "0000437174" "11" "95" "15" "49085556" "49085556" "subst" "1.21887E-5" "00000" "CEP152_000002" "g.49085556T>G" "" "{PMID:Guernsey 2010:20598275}" "" "Q265P" "" "Unknown" "" "" "0" "" "" "g.48793359T>G" "" "pathogenic" "" "0000437175" "21" "95" "15" "49085556" "49085556" "subst" "1.21887E-5" "00000" "CEP152_000002" "g.49085556T>G" "" "{PMID:Guernsey 2010:20598275}" "" "Q265P" "" "Unknown" "" "" "0" "" "" "g.48793359T>G" "" "pathogenic" "" "0000437176" "0" "35" "15" "49085556" "49085556" "subst" "1.21887E-5" "00000" "CEP152_000002" "g.49085556T>G" "" "{PMID:Guernsey 2010:20598275}" "" "Q265P" "" "Unknown" "" "" "0" "" "" "g.48793359T>G" "" "likely benign" "" "0000437177" "0" "35" "15" "49085556" "49085556" "subst" "1.21887E-5" "00000" "CEP152_000002" "g.49085556T>G" "" "{PMID:Guernsey 2010:20598275}" "" "Q265P" "" "Unknown" "" "" "0" "" "" "g.48793359T>G" "" "likely benign" "" "0000437178" "0" "35" "15" "49085556" "49085556" "subst" "1.21887E-5" "00000" "CEP152_000002" "g.49085556T>G" "" "{PMID:Guernsey 2010:20598275}" "" "Q265P" "" "Unknown" "" "" "0" "" "" "g.48793359T>G" "" "likely benign" "" "0000437179" "0" "95" "15" "49085556" "49085556" "subst" "1.21887E-5" "00000" "CEP152_000002" "g.49085556T>G" "" "{PMID:Guernsey 2010:20598275}" "" "Q265P" "" "Unknown" "" "" "0" "" "" "g.48793359T>G" "" "pathogenic" "" "0000437180" "2" "95" "15" "49048486" "49048486" "subst" "4.58833E-6" "00000" "CEP152_000001" "g.49048486G>A" "" "{PMID:Guernsey 2010:20598275}" "" "R987X" "" "Unknown" "" "" "0" "" "" "g.48756289G>A" "" "pathogenic" "" "0000437181" "0" "35" "15" "49048486" "49048486" "subst" "4.58833E-6" "00000" "CEP152_000001" "g.49048486G>A" "" "{PMID:Guernsey 2010:20598275}" "" "R987X" "" "Unknown" "" "" "0" "" "" "g.48756289G>A" "" "likely benign" "" "0000437182" "2" "97" "15" "49031201" "49031202" "del" "0" "00000" "CEP152_000008" "g.49031201_49031202del" "" "" "" "c.4210_4211delGT; p.Val1404fsX2, exon 27" "" "Unknown" "" "" "0" "" "" "g.48739004_48739005del" "" "pathogenic" "" "0000437183" "1" "97" "15" "49089857" "49089857" "subst" "0" "00000" "CEP152_000003" "g.49089857C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48797660C>G" "" "pathogenic" "" "0000437184" "2" "97" "15" "49089857" "49089857" "subst" "0" "00000" "CEP152_000003" "g.49089857C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48797660C>G" "" "pathogenic" "" "0000437185" "1" "97" "15" "49089857" "49089857" "subst" "0" "00000" "CEP152_000003" "g.49089857C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48797660C>G" "" "pathogenic" "" "0000437186" "2" "97" "15" "49089857" "49089857" "subst" "0" "00000" "CEP152_000003" "g.49089857C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48797660C>G" "" "pathogenic" "" "0000437187" "1" "97" "15" "49089857" "49089857" "subst" "0" "00000" "CEP152_000003" "g.49089857C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48797660C>G" "" "pathogenic" "" "0000437188" "2" "97" "15" "49089857" "49089857" "subst" "0" "00000" "CEP152_000003" "g.49089857C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48797660C>G" "" "pathogenic" "" "0000437189" "1" "97" "15" "49089857" "49089857" "subst" "0" "00000" "CEP152_000003" "g.49089857C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48797660C>G" "" "pathogenic" "" "0000437190" "2" "97" "15" "49089857" "49089857" "subst" "0" "00000" "CEP152_000003" "g.49089857C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48797660C>G" "" "pathogenic" "" "0000437191" "1" "97" "15" "49089857" "49089857" "subst" "0" "00000" "CEP152_000003" "g.49089857C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48797660C>G" "" "pathogenic" "" "0000437192" "2" "97" "15" "49089857" "49089857" "subst" "0" "00000" "CEP152_000003" "g.49089857C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48797660C>G" "" "pathogenic" "" "0000437193" "1" "97" "15" "49089857" "49089857" "subst" "0" "00000" "CEP152_000006" "g.49089857C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48797660C>G" "" "pathogenic" "" "0000437194" "2" "97" "15" "49089857" "49089857" "subst" "0" "00000" "CEP152_000006" "g.49089857C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48797660C>G" "" "pathogenic" "" "0000437195" "1" "97" "15" "49060434" "49060434" "subst" "0.00102567" "00000" "CEP152_000007" "g.49060434T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48768237T>C" "" "pathogenic" "" "0000437196" "1" "97" "15" "49059645" "49059645" "subst" "0.00028431" "00000" "CEP152_000004" "g.49059645A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48767448A>C" "" "pathogenic" "" "0000437197" "2" "97" "15" "49052331" "49052331" "subst" "4.06223E-6" "00000" "CEP152_000005" "g.49052331C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48760134C>A" "" "pathogenic" "" "0000554715" "0" "30" "15" "49030822" "49030822" "subst" "0.000545403" "01804" "CEP152_000067" "g.49030822C>G" "" "" "" "CEP152(NM_001194998.1):c.4757G>C (p.(Arg1586Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48738625C>G" "" "likely benign" "" "0000554716" "0" "30" "15" "49030951" "49030951" "subst" "0" "01943" "CEP152_000068" "g.49030951T>C" "" "" "" "CEP152(NM_001194998.1):c.4628A>G (p.E1543G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48738754T>C" "" "likely benign" "" "0000554717" "0" "50" "15" "49030963" "49030963" "subst" "7.31654E-5" "01804" "CEP152_000069" "g.49030963T>C" "" "" "" "CEP152(NM_001194998.1):c.4616A>G (p.(Asn1539Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48738766T>C" "" "VUS" "" "0000554719" "0" "30" "15" "49031371" "49031371" "subst" "0.00013019" "01804" "CEP152_000071" "g.49031371G>A" "" "" "" "CEP152(NM_001194998.1):c.4208C>T (p.(Thr1403Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48739174G>A" "" "likely benign" "" "0000554720" "0" "30" "15" "49031404" "49031404" "subst" "0.000278568" "01804" "CEP152_000072" "g.49031404A>G" "" "" "" "CEP152(NM_001194998.1):c.4175T>C (p.(Ile1392Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48739207A>G" "" "likely benign" "" "0000554721" "0" "30" "15" "49033819" "49033819" "subst" "0.000406428" "01943" "CEP152_000073" "g.49033819G>C" "" "" "" "CEP152(NM_001194998.1):c.4072C>G (p.Q1358E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48741622G>C" "" "likely benign" "" "0000554723" "0" "50" "15" "49048567" "49048567" "subst" "0.00248545" "01943" "CEP152_000074" "g.49048567A>G" "" "" "" "CEP152(NM_001194998.1):c.2878T>C (p.W960R, p.(Trp960Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48756370A>G" "" "VUS" "" "0000554724" "0" "30" "15" "49054772" "49054772" "subst" "0.0196251" "01804" "CEP152_000035" "g.49054772C>A" "" "" "" "CEP152(NM_001194998.1):c.2378G>T (p.S793I, p.(Ser793Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48762575C>A" "" "likely benign" "" "0000554725" "0" "90" "15" "49059531" "49059531" "subst" "0" "02326" "CEP152_000075" "g.49059531C>T" "" "" "" "CEP152(NM_001194998.2):c.2147+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48767334C>T" "" "pathogenic" "" "0000554726" "0" "90" "15" "49059593" "49059594" "ins" "0" "01943" "CEP152_000076" "g.49059593_49059594insC" "" "" "" "CEP152(NM_001194998.1):c.2085_2086insG (p.K696Efs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48767396_48767397insC" "" "pathogenic" "" "0000554729" "0" "30" "15" "49076311" "49076311" "subst" "0.00241862" "01804" "CEP152_000042" "g.49076311T>C" "" "" "" "CEP152(NM_001194998.1):c.1180A>G (p.I394V, p.(Ile394Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48784114T>C" "" "likely benign" "" "0000554730" "0" "30" "15" "49081189" "49081189" "subst" "0.000243685" "01804" "CEP152_000044" "g.49081189T>G" "" "" "" "CEP152(NM_001194998.1):c.982A>C (p.K328Q, p.(Lys328Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48788992T>G" "" "likely benign" "" "0000554731" "0" "30" "15" "49083481" "49083481" "subst" "0.000256485" "01804" "CEP152_000048" "g.49083481T>G" "" "" "" "CEP152(NM_001194998.1):c.925A>C (p.K309Q, p.(Lys309Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48791284T>G" "" "likely benign" "" "0000554732" "0" "30" "15" "49085583" "49085583" "subst" "0.000268195" "01804" "CEP152_000050" "g.49085583A>G" "" "" "" "CEP152(NM_001194998.1):c.767T>C (p.I256T, p.(Ile256Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48793386A>G" "" "likely benign" "" "0000554733" "0" "30" "15" "49088220" "49088220" "subst" "4.06365E-5" "01943" "CEP152_000079" "g.49088220T>C" "" "" "" "CEP152(NM_001194998.1):c.678A>G (p.L226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48796023T>C" "" "likely benign" "" "0000554734" "0" "30" "15" "49088254" "49088254" "subst" "0.000255937" "01804" "CEP152_000054" "g.49088254C>T" "" "" "" "CEP152(NM_001194998.1):c.644G>A (p.S215N, p.(Ser215Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48796057C>T" "" "likely benign" "" "0000554736" "0" "90" "15" "49089572" "49089572" "dup" "0" "01943" "CEP152_000080" "g.49089572dup" "" "" "" "CEP152(NM_001194998.1):c.467dupG (p.Q157Sfs*6), CEP152(NM_001194998.2):c.467dupG (p.Q157Sfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48797375dup" "" "pathogenic" "" "0000554737" "0" "50" "15" "49089646" "49089646" "subst" "8.1248E-6" "01804" "CEP152_000081" "g.49089646C>A" "" "" "" "CEP152(NM_001194998.1):c.392G>T (p.(Gly131Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48797449C>A" "" "VUS" "" "0000554738" "0" "30" "15" "49089694" "49089694" "subst" "0.0026935" "01804" "CEP152_000056" "g.49089694C>T" "" "" "" "CEP152(NM_001194998.1):c.344G>A (p.R115Q, p.(Arg115Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48797497C>T" "" "likely benign" "" "0000615387" "0" "30" "15" "49030510" "49030510" "subst" "0" "01804" "CEP152_000082" "g.49030510A>T" "" "" "" "CEP152(NM_001194998.1):c.5069T>A (p.(Leu1690Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48738313A>T" "" "likely benign" "" "0000615388" "0" "30" "15" "49030841" "49030841" "subst" "0.000524753" "01943" "CEP152_000083" "g.49030841T>C" "" "" "" "CEP152(NM_001194998.1):c.4738A>G (p.T1580A, p.(Thr1580Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48738644T>C" "" "likely benign" "" "0000615389" "0" "30" "15" "49090178" "49090178" "subst" "0" "01804" "CEP152_000084" "g.49090178T>C" "" "" "" "CEP152(NM_001194998.1):c.158A>G (p.(Tyr53Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48797981T>C" "" "likely benign" "" "0000615390" "0" "30" "15" "49097812" "49097812" "subst" "0.000284692" "01804" "CEP152_000085" "g.49097812A>G" "" "" "" "CEP152(NM_001194998.1):c.35T>C (p.(Val12Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48805615A>G" "" "likely benign" "" "0000680203" "0" "50" "15" "49040737" "49040737" "subst" "0.000310813" "01943" "CEP152_000087" "g.49040737C>G" "" "" "" "CEP152(NM_001194998.1):c.3537G>C (p.K1179N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680204" "0" "70" "15" "49048434" "49048434" "del" "0" "01943" "CEP152_000088" "g.49048434del" "" "" "" "CEP152(NM_001194998.1):c.3016delA (p.T1006Lfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000680205" "0" "50" "15" "49048617" "49048617" "subst" "9.37238E-5" "01804" "CEP152_000089" "g.49048617T>C" "" "" "" "CEP152(NM_001194998.1):c.2828A>G (p.(Glu943Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680206" "0" "30" "15" "49064681" "49064681" "subst" "1.63568E-5" "02325" "CEP152_000090" "g.49064681T>A" "" "" "" "CEP152(NM_001194998.2):c.1782+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680207" "0" "30" "15" "49089720" "49089720" "subst" "0.000833069" "01943" "CEP152_000091" "g.49089720T>C" "" "" "" "CEP152(NM_001194998.1):c.318A>G (p.E106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691813" "0" "50" "15" "49048198" "49048198" "subst" "0" "01943" "CEP152_000092" "g.49048198A>C" "" "" "" "CEP152(NM_001194998.1):c.3247T>G (p.S1083A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691814" "0" "30" "15" "49059603" "49059603" "subst" "0" "01943" "CEP152_000093" "g.49059603G>A" "" "" "" "CEP152(NM_001194998.1):c.2076C>T (p.S692=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691815" "0" "30" "15" "49088331" "49088331" "subst" "3.25082E-5" "01943" "CEP152_000094" "g.49088331C>T" "" "" "" "CEP152(NM_001194998.1):c.567G>A (p.P189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725165" "0" "30" "15" "49048132" "49048132" "subst" "0.00137374" "01804" "CEP152_000030" "g.49048132G>C" "" "" "" "CEP152(NM_001194998.1):c.3313C>G (p.L1105V, p.(Leu1105Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725166" "0" "30" "15" "49048567" "49048567" "subst" "0.00248545" "01804" "CEP152_000074" "g.49048567A>G" "" "" "" "CEP152(NM_001194998.1):c.2878T>C (p.W960R, p.(Trp960Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725167" "0" "30" "15" "49048641" "49048641" "subst" "0.000791152" "01804" "CEP152_000095" "g.49048641T>C" "" "" "" "CEP152(NM_001194998.1):c.2804A>G (p.(Gln935Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725168" "0" "70" "15" "49061265" "49061265" "del" "0" "01943" "CEP152_000096" "g.49061265del" "" "" "" "CEP152(NM_001194998.1):c.1797delC (p.S600Qfs*46)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725169" "0" "90" "15" "49089572" "49089572" "dup" "0" "02329" "CEP152_000080" "g.49089572dup" "" "" "" "CEP152(NM_001194998.1):c.467dupG (p.Q157Sfs*6), CEP152(NM_001194998.2):c.467dupG (p.Q157Sfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725170" "0" "30" "15" "49089640" "49089640" "subst" "0" "01804" "CEP152_000097" "g.49089640C>G" "" "" "" "CEP152(NM_001194998.1):c.398G>C (p.(Ser133Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854071" "0" "30" "15" "49044649" "49044649" "subst" "0" "01943" "CEP152_000098" "g.49044649G>C" "" "" "" "CEP152(NM_001194998.1):c.3363C>G (p.L1121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854072" "0" "50" "15" "49089537" "49089537" "subst" "8.13458E-6" "01804" "CEP152_000099" "g.49089537A>C" "" "" "" "CEP152(NM_001194998.1):c.501T>G (p.(Asn167Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854073" "0" "30" "15" "49089850" "49089850" "subst" "0.000109683" "01943" "CEP152_000100" "g.49089850A>C" "" "" "" "CEP152(NM_001194998.1):c.261+8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863889" "0" "50" "15" "49083444" "49083444" "subst" "3.26757E-5" "01943" "CEP152_000047" "g.49083444T>C" "" "" "" "CEP152(NM_001194998.1):c.962A>G (p.N321S, p.(Asn321Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892139" "0" "50" "15" "49054659" "49054659" "subst" "0" "01804" "CEP152_000101" "g.49054659C>T" "" "" "" "CEP152(NM_001194998.1):c.2491G>A (p.(Ala831Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920682" "1" "70" "15" "49048567" "49048567" "subst" "0.00248545" "00006" "CEP152_000074" "g.49048567A>G" "" "{PMID:Duerinckx 2020:31696992}, \r\n{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.48756370A>G" "" "likely pathogenic (recessive)" "" "0000920683" "1" "70" "15" "49048567" "49048567" "subst" "0.00248545" "00006" "CEP152_000074" "g.49048567A>G" "" "{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.48756370A>G" "" "likely pathogenic (recessive)" "" "0000920704" "2" "70" "15" "49048486" "49048486" "subst" "4.58833E-6" "00006" "CEP152_000001" "g.49048486G>A" "" "{PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.48756289G>A" "" "likely pathogenic (recessive)" "" "0000920705" "2" "70" "15" "49048196" "49048196" "del" "4.47067E-5" "00006" "CEP152_000104" "g.49048196del" "" "{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.48755999del" "" "likely pathogenic (recessive)" "" "0000921174" "3" "50" "15" "49048296" "49048296" "subst" "1.62525E-5" "00006" "CEP152_000102" "g.49048296A>G" "" "{PMID:Sajid Hussain 2013:22775483}" "" "[3149T>C;3676-3678delAAC]" "" "Germline" "" "" "0" "" "" "g.48756099A>G" "" "VUS" "" "0000921195" "3" "50" "15" "49037149" "49037151" "del" "0" "00006" "CEP152_000103" "g.49037149_49037151del" "" "{PMID:Sajid Hussain 2013:22775483}" "" "[3149T>C;3676-3678delAAC]" "" "Germline" "" "" "0" "" "" "g.48744952_48744954del" "" "VUS" "" "0000925990" "0" "30" "15" "49030841" "49030841" "subst" "0.000524753" "01804" "CEP152_000083" "g.49030841T>C" "" "" "" "CEP152(NM_001194998.1):c.4738A>G (p.T1580A, p.(Thr1580Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931668" "0" "90" "15" "49059645" "49059645" "subst" "0.00028431" "03779" "CEP152_000004" "g.49059645A>C" "" "" "" "" "" "Unknown" "" "rs182018947" "0" "" "" "" "" "pathogenic" "" "0000931669" "0" "70" "15" "49059364" "49059366" "del" "0" "03779" "CEP152_000105" "g.49059364_49059366del" "" "" "" "" "" "Unknown" "" "rs1326819361" "0" "" "" "" "" "likely pathogenic" "" "0000950387" "0" "90" "15" "49059645" "49059645" "subst" "0.00028431" "01804" "CEP152_000004" "g.49059645A>C" "" "" "" "CEP152(NM_001194998.1):c.2034T>G (p.(Tyr678Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981284" "0" "70" "15" "49059406" "49059406" "subst" "0.000101673" "01804" "CEP152_000106" "g.49059406C>T" "" "" "" "CEP152(NM_001194998.2):c.2148-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981285" "0" "50" "15" "49076301" "49076301" "subst" "4.07485E-5" "01804" "CEP152_000107" "g.49076301C>T" "" "" "" "CEP152(NM_001194998.2):c.1190G>A (p.(Arg397His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001506" "0" "30" "15" "49048360" "49048360" "subst" "6.50206E-5" "01804" "CEP152_000108" "g.49048360T>C" "" "" "" "CEP152(NM_001194998.1):c.3085A>G (p.(Met1029Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026461" "0" "50" "15" "49030501" "49030501" "subst" "0.00320484" "01943" "CEP152_000011" "g.49030501G>A" "" "" "" "CEP152(NM_001194998.1):c.5078C>T (p.P1693L, p.(Pro1693Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026462" "0" "90" "15" "49048486" "49048486" "subst" "4.58833E-6" "02329" "CEP152_000001" "g.49048486G>A" "" "" "" "CEP152(NM_001194998.2):c.2959C>T (p.R987*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040420" "0" "30" "15" "49036548" "49036548" "del" "0" "01804" "CEP152_000109" "g.49036548del" "" "" "" "CEP152(NM_001194998.2):c.3732-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040421" "0" "30" "15" "49060434" "49060434" "subst" "0.00102567" "01804" "CEP152_000007" "g.49060434T>C" "" "" "" "CEP152(NM_001194998.1):c.2000A>G (p.K667R), CEP152(NM_001194998.2):c.2000A>G (p.(Lys667Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040422" "0" "50" "15" "49073420" "49073420" "subst" "4.06497E-6" "01804" "CEP152_000110" "g.49073420A>T" "" "" "" "CEP152(NM_001194998.2):c.1550T>A (p.(Val517Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040423" "0" "70" "15" "49073549" "49073549" "subst" "0" "01804" "CEP152_000111" "g.49073549A>C" "" "" "" "CEP152(NM_001194998.2):c.1421T>G (p.(Leu474*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040424" "0" "50" "15" "49097843" "49097843" "subst" "0.000308855" "01804" "CEP152_000112" "g.49097843A>T" "" "" "" "CEP152(NM_001194998.2):c.4T>A (p.(Ser2Thr))" "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 CEP152 ## Count = 283 "{{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}}" "0000079540" "00004998" "00" "3909" "0" "3909" "0" "c.3909C>G" "r.(?)" "p.(Ser1303Arg)" "" "0000079540" "00025820" "90" "4077" "0" "4077" "0" "c.4077C>G" "r.(?)" "p.(Ser1359Arg)" "" "0000079687" "00004998" "00" "3544" "0" "3544" "0" "c.3544C>G" "r.(?)" "p.(Leu1182Val)" "" "0000079687" "00025820" "90" "3712" "0" "3712" "0" "c.3712C>G" "r.(?)" "p.(Leu1238Val)" "" "0000079688" "00004998" "00" "2000" "0" "2000" "0" "c.2000A>G" "r.(?)" "p.(Lys667Arg)" "" "0000079688" "00025820" "90" "2000" "0" "2000" "0" "c.2000A>G" "r.(?)" "p.(Lys667Arg)" "" "0000253518" "00004998" "10" "4689" "0" "4689" "0" "c.4689T>C" "r.(?)" "p.(Asp1563=)" "" "0000253518" "00025820" "10" "4857" "0" "4857" "0" "c.4857T>C" "r.(?)" "p.(Asp1619=)" "" "0000253707" "00004998" "10" "3317" "0" "3317" "0" "c.3317T>C" "r.(?)" "p.(Val1106Ala)" "" "0000253707" "00025820" "10" "3317" "0" "3317" "0" "c.3317T>C" "r.(?)" "p.(Val1106Ala)" "" "0000254254" "00004998" "30" "4152" "0" "4152" "0" "c.4152T>C" "r.(?)" "p.(His1384=)" "" "0000254254" "00025820" "30" "4320" "0" "4320" "0" "c.4320T>C" "r.(?)" "p.(His1440=)" "" "0000254522" "00004998" "30" "767" "0" "767" "0" "c.767T>C" "r.(?)" "p.(Ile256Thr)" "" "0000254522" "00025820" "30" "767" "0" "767" "0" "c.767T>C" "r.(?)" "p.(Ile256Thr)" "" "0000266662" "00004998" "30" "2147" "10" "2147" "10" "c.2147+10A>C" "r.(=)" "p.(=)" "" "0000266662" "00025820" "30" "2147" "10" "2147" "10" "c.2147+10A>C" "r.(=)" "p.(=)" "" "0000266663" "00004998" "50" "3806" "0" "3806" "0" "c.3806A>G" "r.(?)" "p.(Asp1269Gly)" "" "0000266663" "00025820" "50" "3974" "0" "3974" "0" "c.3974A>G" "r.(?)" "p.(Asp1325Gly)" "" "0000266664" "00004998" "10" "691" "9" "691" "9" "c.691+9C>T" "r.(=)" "p.(=)" "" "0000266664" "00025820" "10" "691" "9" "691" "9" "c.691+9C>T" "r.(=)" "p.(=)" "" "0000266665" "00004998" "10" "833" "-4" "833" "-4" "c.833-4G>A" "r.spl?" "p.?" "" "0000266665" "00025820" "10" "833" "-4" "833" "-4" "c.833-4G>A" "r.spl?" "p.?" "" "0000266666" "00004998" "30" "87" "27" "87" "27" "c.87+27dup" "r.(=)" "p.(=)" "" "0000266666" "00025820" "30" "87" "27" "87" "27" "c.87+27dup" "r.(=)" "p.(=)" "" "0000269969" "00004998" "90" "1908" "1" "1908" "1" "c.1908+1G>T" "r.spl?" "p.?" "" "0000269969" "00025820" "90" "1908" "1" "1908" "1" "c.1908+1G>T" "r.spl?" "p.?" "" "0000269970" "00004998" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Gln223Ter)" "" "0000269970" "00025820" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Gln223Ter)" "" "0000273149" "00004998" "30" "1110" "0" "1110" "0" "c.1110C>T" "r.(?)" "p.(Tyr370=)" "" "0000273149" "00025820" "30" "1110" "0" "1110" "0" "c.1110C>T" "r.(?)" "p.(Tyr370=)" "" "0000273150" "00004998" "30" "1180" "0" "1180" "0" "c.1180A>G" "r.(?)" "p.(Ile394Val)" "" "0000273150" "00025820" "30" "1180" "0" "1180" "0" "c.1180A>G" "r.(?)" "p.(Ile394Val)" "" "0000273151" "00004998" "10" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Ser54Leu)" "" "0000273151" "00025820" "10" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Ser54Leu)" "" "0000273152" "00004998" "30" "171" "0" "171" "0" "c.171C>T" "r.(?)" "p.(Ser57=)" "" "0000273152" "00025820" "30" "171" "0" "171" "0" "c.171C>T" "r.(?)" "p.(Ser57=)" "" "0000273153" "00004998" "10" "191" "11" "191" "11" "c.191+11G>A" "r.(=)" "p.(=)" "" "0000273153" "00025820" "10" "191" "11" "191" "11" "c.191+11G>A" "r.(=)" "p.(=)" "" "0000273154" "00004998" "10" "2000" "0" "2000" "0" "c.2000A>G" "r.(?)" "p.(Lys667Arg)" "" "0000273154" "00025820" "10" "2000" "0" "2000" "0" "c.2000A>G" "r.(?)" "p.(Lys667Arg)" "" "0000273155" "00004998" "10" "2019" "-13" "2019" "-13" "c.2019-13G>A" "r.(=)" "p.(=)" "" "0000273155" "00025820" "10" "2019" "-13" "2019" "-13" "c.2019-13G>A" "r.(=)" "p.(=)" "" "0000273156" "00004998" "50" "2068" "0" "2068" "0" "c.2068C>T" "r.(?)" "p.(Arg690Cys)" "" "0000273156" "00025820" "50" "2068" "0" "2068" "0" "c.2068C>T" "r.(?)" "p.(Arg690Cys)" "" "0000273157" "00004998" "30" "2262" "0" "2262" "0" "c.2262G>A" "r.(?)" "p.(Glu754=)" "" "0000273157" "00025820" "30" "2262" "0" "2262" "0" "c.2262G>A" "r.(?)" "p.(Glu754=)" "" "0000273158" "00004998" "10" "2378" "0" "2378" "0" "c.2378G>T" "r.(?)" "p.(Ser793Ile)" "" "0000273158" "00025820" "10" "2378" "0" "2378" "0" "c.2378G>T" "r.(?)" "p.(Ser793Ile)" "" "0000273159" "00004998" "10" "2740" "0" "2740" "0" "c.2740C>G" "r.(?)" "p.(Leu914Val)" "" "0000273159" "00025820" "10" "2740" "0" "2740" "0" "c.2740C>G" "r.(?)" "p.(Leu914Val)" "" "0000273160" "00004998" "30" "2835" "0" "2835" "0" "c.2835C>G" "r.(?)" "p.(Val945=)" "" "0000273160" "00025820" "30" "2835" "0" "2835" "0" "c.2835C>G" "r.(?)" "p.(Val945=)" "" "0000273161" "00004998" "50" "2984" "0" "2984" "0" "c.2984C>T" "r.(?)" "p.(Ala995Val)" "" "0000273161" "00025820" "50" "2984" "0" "2984" "0" "c.2984C>T" "r.(?)" "p.(Ala995Val)" "" "0000273162" "00004998" "50" "3313" "0" "3313" "0" "c.3313C>G" "r.(?)" "p.(Leu1105Val)" "" "0000273162" "00025820" "50" "3313" "0" "3313" "0" "c.3313C>G" "r.(?)" "p.(Leu1105Val)" "" "0000273163" "00004998" "30" "3355" "0" "3355" "0" "c.3355G>A" "r.(?)" "p.(Ala1119Thr)" "" "0000273163" "00025820" "30" "3355" "0" "3355" "0" "c.3355G>A" "r.(?)" "p.(Ala1119Thr)" "" "0000273164" "00004998" "30" "3422" "0" "3422" "0" "c.3422A>G" "r.(?)" "p.(His1141Arg)" "" "0000273164" "00025820" "30" "3422" "0" "3422" "0" "c.3422A>G" "r.(?)" "p.(His1141Arg)" "" "0000273165" "00004998" "30" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Arg115Gln)" "" "0000273165" "00025820" "30" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Arg115Gln)" "" "0000273166" "00004998" "10" "3466" "8" "3466" "8" "c.3466+8G>C" "r.(=)" "p.(=)" "" "0000273166" "00025820" "10" "3466" "8" "3466" "8" "c.3466+8G>C" "r.(=)" "p.(=)" "" "0000273167" "00004998" "30" "3561" "0" "3561" "0" "c.3561A>G" "r.(?)" "p.(Pro1187=)" "" "0000273167" "00025820" "30" "3729" "0" "3729" "0" "c.3729A>G" "r.(?)" "p.(Pro1243=)" "" "0000273168" "00004998" "50" "3767" "0" "3767" "0" "c.3767G>A" "r.(?)" "p.(Arg1256His)" "" "0000273168" "00025820" "50" "3935" "0" "3935" "0" "c.3935G>A" "r.(?)" "p.(Arg1312His)" "" "0000273169" "00004998" "50" "3806" "0" "3806" "0" "c.3806A>G" "r.(?)" "p.(Asp1269Gly)" "" "0000273169" "00025820" "50" "3974" "0" "3974" "0" "c.3974A>G" "r.(?)" "p.(Asp1325Gly)" "" "0000273170" "00004998" "90" "3832" "0" "3833" "0" "c.3832_3833del" "r.(?)" "p.(Lys1278AspfsTer6)" "" "0000273170" "00025820" "90" "4000" "0" "4001" "0" "c.4000_4001del" "r.(?)" "p.(Lys1334AspfsTer6)" "" "0000273171" "00004998" "30" "4452" "0" "4452" "0" "c.4452A>G" "r.(?)" "p.(Pro1484=)" "" "0000273171" "00025820" "30" "4620" "0" "4620" "0" "c.4620A>G" "r.(?)" "p.(Pro1540=)" "" "0000273173" "00004998" "30" "4746" "0" "4746" "0" "c.4746A>G" "r.(?)" "p.(Pro1582=)" "" "0000273173" "00025820" "30" "4914" "0" "4914" "0" "c.4914A>G" "r.(?)" "p.(Pro1638=)" "" "0000273174" "00004998" "30" "4911" "0" "4911" "0" "c.4911G>A" "r.(?)" "p.(Pro1637=)" "" "0000273174" "00025820" "30" "5079" "0" "5079" "0" "c.5079G>A" "r.(?)" "p.(Pro1693=)" "" "0000273175" "00004998" "30" "4947" "0" "4947" "0" "c.4947A>G" "r.(?)" "p.(Pro1649=)" "" "0000273175" "00025820" "30" "5115" "0" "5115" "0" "c.5115A>G" "r.(?)" "p.(Pro1705=)" "" "0000273176" "00004998" "30" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Ser215Asn)" "" "0000273176" "00025820" "30" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Ser215Asn)" "" "0000273177" "00004998" "10" "691" "9" "691" "9" "c.691+9C>T" "r.(=)" "p.(=)" "" "0000273177" "00025820" "10" "691" "9" "691" "9" "c.691+9C>T" "r.(=)" "p.(=)" "" "0000273178" "00004998" "10" "833" "-4" "833" "-4" "c.833-4G>A" "r.spl?" "p.?" "" "0000273178" "00025820" "10" "833" "-4" "833" "-4" "c.833-4G>A" "r.spl?" "p.?" "" "0000273179" "00004998" "30" "88" "-7" "88" "-7" "c.88-7G>A" "r.(=)" "p.(=)" "" "0000273179" "00025820" "30" "88" "-7" "88" "-7" "c.88-7G>A" "r.(=)" "p.(=)" "" "0000273180" "00004998" "30" "925" "0" "925" "0" "c.925A>C" "r.(?)" "p.(Lys309Gln)" "" "0000273180" "00025820" "30" "925" "0" "925" "0" "c.925A>C" "r.(?)" "p.(Lys309Gln)" "" "0000273181" "00004998" "10" "972" "19" "972" "19" "c.972+19G>A" "r.(=)" "p.(=)" "" "0000273181" "00025820" "10" "972" "19" "972" "19" "c.972+19G>A" "r.(=)" "p.(=)" "" "0000273182" "00004998" "50" "981" "0" "981" "0" "c.981G>C" "r.(?)" "p.(Lys327Asn)" "" "0000273182" "00025820" "50" "981" "0" "981" "0" "c.981G>C" "r.(?)" "p.(Lys327Asn)" "" "0000273183" "00004998" "30" "982" "0" "982" "0" "c.982A>C" "r.(?)" "p.(Lys328Gln)" "" "0000273183" "00025820" "30" "982" "0" "982" "0" "c.982A>C" "r.(?)" "p.(Lys328Gln)" "" "0000324092" "00004998" "50" "4910" "0" "4910" "0" "c.4910C>T" "r.(?)" "p.(Pro1637Leu)" "" "0000324092" "00025820" "50" "5078" "0" "5078" "0" "c.5078C>T" "r.(?)" "p.(Pro1693Leu)" "" "0000324093" "00004998" "50" "4186" "0" "4186" "0" "c.4186C>T" "r.(?)" "p.(His1396Tyr)" "" "0000324093" "00025820" "50" "4354" "0" "4354" "0" "c.4354C>T" "r.(?)" "p.(His1452Tyr)" "" "0000324094" "00004998" "50" "3822" "-4" "3822" "-4" "c.3822-4A>G" "r.spl?" "p.?" "" "0000324094" "00025820" "50" "3990" "-4" "3990" "-4" "c.3990-4A>G" "r.spl?" "p.?" "" "0000324095" "00004998" "50" "3766" "0" "3766" "0" "c.3766C>T" "r.(?)" "p.(Arg1256Cys)" "" "0000324095" "00025820" "50" "3934" "0" "3934" "0" "c.3934C>T" "r.(?)" "p.(Arg1312Cys)" "" "0000324096" "00004998" "50" "3679" "0" "3679" "0" "c.3679C>T" "r.(?)" "p.(Arg1227Cys)" "" "0000324096" "00025820" "50" "3847" "0" "3847" "0" "c.3847C>T" "r.(?)" "p.(Arg1283Cys)" "" "0000324097" "00004998" "50" "2518" "0" "2518" "0" "c.2518G>A" "r.(?)" "p.(Glu840Lys)" "" "0000324097" "00025820" "50" "2518" "0" "2518" "0" "c.2518G>A" "r.(?)" "p.(Glu840Lys)" "" "0000324098" "00004998" "50" "1655" "0" "1655" "0" "c.1655G>A" "r.(?)" "p.(Arg552His)" "" "0000324098" "00025820" "50" "1655" "0" "1655" "0" "c.1655G>A" "r.(?)" "p.(Arg552His)" "" "0000324099" "00004998" "50" "962" "0" "962" "0" "c.962A>G" "r.(?)" "p.(Asn321Ser)" "" "0000324099" "00025820" "50" "962" "0" "962" "0" "c.962A>G" "r.(?)" "p.(Asn321Ser)" "" "0000324100" "00004998" "50" "685" "0" "685" "0" "c.685A>C" "r.(?)" "p.(Asn229His)" "" "0000324100" "00025820" "50" "685" "0" "685" "0" "c.685A>C" "r.(?)" "p.(Asn229His)" "" "0000324101" "00004998" "50" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Gln223Ter)" "" "0000324101" "00025820" "50" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Gln223Ter)" "" "0000324102" "00004998" "50" "262" "-3" "262" "-3" "c.262-3T>C" "r.spl?" "p.?" "" "0000324102" "00025820" "50" "262" "-3" "262" "-3" "c.262-3T>C" "r.spl?" "p.?" "" "0000324103" "00004998" "50" "85" "0" "85" "0" "c.85G>A" "r.(?)" "p.(Glu29Lys)" "" "0000324103" "00025820" "50" "85" "0" "85" "0" "c.85G>A" "r.(?)" "p.(Glu29Lys)" "" "0000338322" "00004998" "10" "833" "-4" "833" "-4" "c.833-4G>A" "r.spl?" "p.?" "" "0000338322" "00025820" "10" "833" "-4" "833" "-4" "c.833-4G>A" "r.spl?" "p.?" "" "0000338324" "00004998" "10" "191" "11" "191" "11" "c.191+11G>A" "r.(=)" "p.(=)" "" "0000338324" "00025820" "10" "191" "11" "191" "11" "c.191+11G>A" "r.(=)" "p.(=)" "" "0000338325" "00004998" "10" "-24" "0" "-24" "0" "c.-24A>T" "r.(?)" "p.(=)" "" "0000338325" "00025820" "10" "-24" "0" "-24" "0" "c.-24A>T" "r.(?)" "p.(=)" "" "0000338326" "00004998" "10" "-26" "0" "-26" "0" "c.-26A>T" "r.(?)" "p.(=)" "" "0000338326" "00025820" "10" "-26" "0" "-26" "0" "c.-26A>T" "r.(?)" "p.(=)" "" "0000338327" "00004998" "10" "-94" "0" "-94" "0" "c.-94A>G" "r.(?)" "p.(=)" "" "0000338327" "00025820" "10" "-94" "0" "-94" "0" "c.-94A>G" "r.(?)" "p.(=)" "" "0000344672" "00004998" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Gln223Ter)" "" "0000344672" "00025820" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Gln223Ter)" "" "0000347343" "00004998" "10" "2740" "0" "2740" "0" "c.2740C>G" "r.(?)" "p.(Leu914Val)" "" "0000347343" "00025820" "10" "2740" "0" "2740" "0" "c.2740C>G" "r.(?)" "p.(Leu914Val)" "" "0000350298" "00004998" "50" "4210" "0" "4211" "0" "c.4210_4211del" "r.(?)" "p.(Val1404PhefsTer3)" "" "0000350298" "00025820" "50" "4378" "0" "4379" "0" "c.4378_4379del" "r.(?)" "p.(Val1460PhefsTer3)" "" "0000351247" "00004998" "10" "3466" "8" "3466" "8" "c.3466+8G>C" "r.(=)" "p.(=)" "" "0000351247" "00025820" "10" "3466" "8" "3466" "8" "c.3466+8G>C" "r.(=)" "p.(=)" "" "0000437170" "00004998" "95" "794" "0" "794" "0" "c.794A>C" "r.(?)" "p.(Gln265Pro)" "?" "0000437171" "00004998" "95" "794" "0" "794" "0" "c.794A>C" "r.(?)" "p.(Gln265Pro)" "?" "0000437172" "00004998" "35" "794" "0" "794" "0" "c.794A>C" "r.(?)" "p.(Gln265Pro)" "?" "0000437173" "00004998" "35" "794" "0" "794" "0" "c.794A>C" "r.(?)" "p.(Gln265Pro)" "?" "0000437174" "00004998" "95" "794" "0" "794" "0" "c.794A>C" "r.(?)" "p.(Gln265Pro)" "?" "0000437175" "00004998" "95" "794" "0" "794" "0" "c.794A>C" "r.(?)" "p.(Gln265Pro)" "?" "0000437176" "00004998" "35" "794" "0" "794" "0" "c.794A>C" "r.(?)" "p.(Gln265Pro)" "?" "0000437177" "00004998" "35" "794" "0" "794" "0" "c.794A>C" "r.(?)" "p.(Gln265Pro)" "?" "0000437178" "00004998" "35" "794" "0" "794" "0" "c.794A>C" "r.(?)" "p.(Gln265Pro)" "?" "0000437179" "00004998" "95" "794" "0" "794" "0" "c.794A>C" "r.(?)" "p.(Gln265Pro)" "?" "0000437180" "00004998" "95" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987*)" "?" "0000437181" "00004998" "35" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987*)" "?" "0000437182" "00004998" "97" "4210" "0" "4211" "0" "c.4210_4211del" "r.(?)" "p.(Val1404Phefs*3)" "?" "0000437183" "00004998" "97" "261" "1" "261" "1" "c.261+1G>C" "r.(?)" "p.(?)" "4i" "0000437184" "00004998" "97" "261" "1" "261" "1" "c.261+1G>C" "r.(?)" "p.(?)" "4i" "0000437185" "00004998" "97" "261" "1" "261" "1" "c.261+1G>C" "r.(?)" "p.(?)" "4i" "0000437186" "00004998" "97" "261" "1" "261" "1" "c.261+1G>C" "r.(?)" "p.(?)" "4i" "0000437187" "00004998" "97" "261" "1" "261" "1" "c.261+1G>C" "r.(?)" "p.(?)" "4i" "0000437188" "00004998" "97" "261" "1" "261" "1" "c.261+1G>C" "r.(?)" "p.(?)" "4i" "0000437189" "00004998" "97" "261" "1" "261" "1" "c.261+1G>C" "r.(?)" "p.(?)" "4i" "0000437190" "00004998" "97" "261" "1" "261" "1" "c.261+1G>C" "r.(?)" "p.(?)" "4i" "0000437191" "00004998" "97" "261" "1" "261" "1" "c.261+1G>C" "r.(?)" "p.(?)" "4i" "0000437192" "00004998" "97" "261" "1" "261" "1" "c.261+1G>C" "r.(?)" "p.(?)" "4i" "0000437193" "00004998" "97" "261" "1" "261" "1" "c.261+1G>C" "r.(?)" "p.(?)" "4i" "0000437194" "00004998" "97" "261" "1" "261" "1" "c.261+1G>C" "r.(?)" "p.(?)" "4i" "0000437195" "00004998" "97" "2000" "0" "2000" "0" "c.2000A>G" "r.(?)" "p.(Lys667Arg)" "15" "0000437196" "00004998" "97" "2034" "0" "2034" "0" "c.2034T>G" "r.(?)" "p.(Tyr678*)" "16" "0000437197" "00004998" "97" "2694" "1" "2694" "1" "c.2694+1G>T" "r.2694G_ins3581" "p.Ile899Leufs*29" "19i" "0000554715" "00004998" "30" "4589" "0" "4589" "0" "c.4589G>C" "r.(?)" "p.(Arg1530Pro)" "" "0000554715" "00025820" "30" "4757" "0" "4757" "0" "c.4757G>C" "r.(?)" "p.(Arg1586Pro)" "" "0000554716" "00004998" "30" "4460" "0" "4460" "0" "c.4460A>G" "r.(?)" "p.(Glu1487Gly)" "" "0000554716" "00025820" "30" "4628" "0" "4628" "0" "c.4628A>G" "r.(?)" "p.(Glu1543Gly)" "" "0000554717" "00004998" "50" "4448" "0" "4448" "0" "c.4448A>G" "r.(?)" "p.(Asn1483Ser)" "" "0000554717" "00025820" "50" "4616" "0" "4616" "0" "c.4616A>G" "r.(?)" "p.(Asn1539Ser)" "" "0000554719" "00004998" "30" "4040" "0" "4040" "0" "c.4040C>T" "r.(?)" "p.(Thr1347Ile)" "" "0000554719" "00025820" "30" "4208" "0" "4208" "0" "c.4208C>T" "r.(?)" "p.(Thr1403Ile)" "" "0000554720" "00004998" "30" "4007" "0" "4007" "0" "c.4007T>C" "r.(?)" "p.(Ile1336Thr)" "" "0000554720" "00025820" "30" "4175" "0" "4175" "0" "c.4175T>C" "r.(?)" "p.(Ile1392Thr)" "" "0000554721" "00004998" "30" "3904" "0" "3904" "0" "c.3904C>G" "r.(?)" "p.(Gln1302Glu)" "" "0000554721" "00025820" "30" "4072" "0" "4072" "0" "c.4072C>G" "r.(?)" "p.(Gln1358Glu)" "" "0000554723" "00004998" "50" "2878" "0" "2878" "0" "c.2878T>C" "r.(?)" "p.(Trp960Arg)" "" "0000554723" "00025820" "50" "2878" "0" "2878" "0" "c.2878T>C" "r.(?)" "p.(Trp960Arg)" "" "0000554724" "00004998" "30" "2378" "0" "2378" "0" "c.2378G>T" "r.(?)" "p.(Ser793Ile)" "" "0000554724" "00025820" "30" "2378" "0" "2378" "0" "c.2378G>T" "r.(?)" "p.(Ser793Ile)" "" "0000554725" "00004998" "90" "2147" "1" "2147" "1" "c.2147+1G>A" "r.spl?" "p.?" "" "0000554725" "00025820" "90" "2147" "1" "2147" "1" "c.2147+1G>A" "r.spl?" "p.?" "" "0000554726" "00004998" "90" "2085" "0" "2086" "0" "c.2085_2086insG" "r.(?)" "p.(Lys696GlufsTer11)" "" "0000554726" "00025820" "90" "2085" "0" "2086" "0" "c.2085_2086insG" "r.(?)" "p.(Lys696GlufsTer11)" "" "0000554729" "00004998" "30" "1180" "0" "1180" "0" "c.1180A>G" "r.(?)" "p.(Ile394Val)" "" "0000554729" "00025820" "30" "1180" "0" "1180" "0" "c.1180A>G" "r.(?)" "p.(Ile394Val)" "" "0000554730" "00004998" "30" "982" "0" "982" "0" "c.982A>C" "r.(?)" "p.(Lys328Gln)" "" "0000554730" "00025820" "30" "982" "0" "982" "0" "c.982A>C" "r.(?)" "p.(Lys328Gln)" "" "0000554731" "00004998" "30" "925" "0" "925" "0" "c.925A>C" "r.(?)" "p.(Lys309Gln)" "" "0000554731" "00025820" "30" "925" "0" "925" "0" "c.925A>C" "r.(?)" "p.(Lys309Gln)" "" "0000554732" "00004998" "30" "767" "0" "767" "0" "c.767T>C" "r.(?)" "p.(Ile256Thr)" "" "0000554732" "00025820" "30" "767" "0" "767" "0" "c.767T>C" "r.(?)" "p.(Ile256Thr)" "" "0000554733" "00004998" "30" "678" "0" "678" "0" "c.678A>G" "r.(?)" "p.(Leu226=)" "" "0000554733" "00025820" "30" "678" "0" "678" "0" "c.678A>G" "r.(?)" "p.(Leu226=)" "" "0000554734" "00004998" "30" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Ser215Asn)" "" "0000554734" "00025820" "30" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Ser215Asn)" "" "0000554736" "00004998" "90" "467" "0" "467" "0" "c.467dup" "r.(?)" "p.(Gln157SerfsTer6)" "" "0000554736" "00025820" "90" "467" "0" "467" "0" "c.467dup" "r.(?)" "p.(Gln157SerfsTer6)" "" "0000554737" "00004998" "50" "392" "0" "392" "0" "c.392G>T" "r.(?)" "p.(Gly131Val)" "" "0000554737" "00025820" "50" "392" "0" "392" "0" "c.392G>T" "r.(?)" "p.(Gly131Val)" "" "0000554738" "00004998" "30" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Arg115Gln)" "" "0000554738" "00025820" "30" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Arg115Gln)" "" "0000615387" "00004998" "30" "4901" "0" "4901" "0" "c.4901T>A" "r.(?)" "p.(Leu1634Ter)" "" "0000615387" "00025820" "30" "5069" "0" "5069" "0" "c.5069T>A" "r.(?)" "p.(Leu1690Ter)" "" "0000615388" "00004998" "30" "4570" "0" "4570" "0" "c.4570A>G" "r.(?)" "p.(Thr1524Ala)" "" "0000615388" "00025820" "30" "4738" "0" "4738" "0" "c.4738A>G" "r.(?)" "p.(Thr1580Ala)" "" "0000615389" "00004998" "30" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(Tyr53Cys)" "" "0000615389" "00025820" "30" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(Tyr53Cys)" "" "0000615390" "00004998" "30" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Val12Ala)" "" "0000615390" "00025820" "30" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Val12Ala)" "" "0000680203" "00004998" "50" "3467" "-3548" "3467" "-3548" "c.3467-3548G>C" "r.(=)" "p.(=)" "" "0000680203" "00025820" "50" "3537" "0" "3537" "0" "c.3537G>C" "r.(?)" "p.(Lys1179Asn)" "" "0000680204" "00004998" "70" "3016" "0" "3016" "0" "c.3016del" "r.(?)" "p.(Thr1006LeufsTer15)" "" "0000680204" "00025820" "70" "3016" "0" "3016" "0" "c.3016del" "r.(?)" "p.(Thr1006LeufsTer15)" "" "0000680205" "00004998" "50" "2828" "0" "2828" "0" "c.2828A>G" "r.(?)" "p.(Glu943Gly)" "" "0000680205" "00025820" "50" "2828" "0" "2828" "0" "c.2828A>G" "r.(?)" "p.(Glu943Gly)" "" "0000680206" "00004998" "30" "1782" "3" "1782" "3" "c.1782+3A>T" "r.spl?" "p.?" "" "0000680206" "00025820" "30" "1782" "3" "1782" "3" "c.1782+3A>T" "r.spl?" "p.?" "" "0000680207" "00004998" "30" "318" "0" "318" "0" "c.318A>G" "r.(?)" "p.(Glu106=)" "" "0000680207" "00025820" "30" "318" "0" "318" "0" "c.318A>G" "r.(?)" "p.(Glu106=)" "" "0000691813" "00004998" "50" "3247" "0" "3247" "0" "c.3247T>G" "r.(?)" "p.(Ser1083Ala)" "" "0000691813" "00025820" "50" "3247" "0" "3247" "0" "c.3247T>G" "r.(?)" "p.(Ser1083Ala)" "" "0000691814" "00004998" "30" "2076" "0" "2076" "0" "c.2076C>T" "r.(?)" "p.(Ser692=)" "" "0000691814" "00025820" "30" "2076" "0" "2076" "0" "c.2076C>T" "r.(?)" "p.(Ser692=)" "" "0000691815" "00004998" "30" "567" "0" "567" "0" "c.567G>A" "r.(?)" "p.(Pro189=)" "" "0000691815" "00025820" "30" "567" "0" "567" "0" "c.567G>A" "r.(?)" "p.(Pro189=)" "" "0000725165" "00004998" "30" "3313" "0" "3313" "0" "c.3313C>G" "r.(?)" "p.(Leu1105Val)" "" "0000725165" "00025820" "30" "3313" "0" "3313" "0" "c.3313C>G" "r.(?)" "p.(Leu1105Val)" "" "0000725166" "00004998" "30" "2878" "0" "2878" "0" "c.2878T>C" "r.(?)" "p.(Trp960Arg)" "" "0000725166" "00025820" "30" "2878" "0" "2878" "0" "c.2878T>C" "r.(?)" "p.(Trp960Arg)" "" "0000725167" "00004998" "30" "2804" "0" "2804" "0" "c.2804A>G" "r.(?)" "p.(Gln935Arg)" "" "0000725167" "00025820" "30" "2804" "0" "2804" "0" "c.2804A>G" "r.(?)" "p.(Gln935Arg)" "" "0000725168" "00004998" "70" "1797" "0" "1797" "0" "c.1797del" "r.(?)" "p.(Ser600Glnfs*46)" "" "0000725168" "00025820" "70" "1797" "0" "1797" "0" "c.1797del" "r.(?)" "p.(Ser600Glnfs*46)" "" "0000725169" "00004998" "90" "467" "0" "467" "0" "c.467dup" "r.(?)" "p.(Gln157SerfsTer6)" "" "0000725169" "00025820" "90" "467" "0" "467" "0" "c.467dup" "r.(?)" "p.(Gln157SerfsTer6)" "" "0000725170" "00004998" "30" "398" "0" "398" "0" "c.398G>C" "r.(?)" "p.(Ser133Thr)" "" "0000725170" "00025820" "30" "398" "0" "398" "0" "c.398G>C" "r.(?)" "p.(Ser133Thr)" "" "0000854071" "00004998" "30" "3363" "0" "3363" "0" "c.3363C>G" "r.(?)" "p.(Leu1121=)" "" "0000854071" "00025820" "30" "3363" "0" "3363" "0" "c.3363C>G" "r.(?)" "p.(Leu1121=)" "" "0000854072" "00004998" "50" "501" "0" "501" "0" "c.501T>G" "r.(?)" "p.(Asn167Lys)" "" "0000854072" "00025820" "50" "501" "0" "501" "0" "c.501T>G" "r.(?)" "p.(Asn167Lys)" "" "0000854073" "00004998" "30" "261" "8" "261" "8" "c.261+8T>G" "r.(=)" "p.(=)" "" "0000854073" "00025820" "30" "261" "8" "261" "8" "c.261+8T>G" "r.(=)" "p.(=)" "" "0000863889" "00004998" "50" "962" "0" "962" "0" "c.962A>G" "r.(?)" "p.(Asn321Ser)" "" "0000863889" "00025820" "50" "962" "0" "962" "0" "c.962A>G" "r.(?)" "p.(Asn321Ser)" "" "0000892139" "00004998" "50" "2491" "0" "2491" "0" "c.2491G>A" "r.(?)" "p.(Ala831Thr)" "" "0000892139" "00025820" "50" "2491" "0" "2491" "0" "c.2491G>A" "r.(?)" "p.(Ala831Thr)" "" "0000920682" "00004998" "70" "2878" "0" "2878" "0" "c.2878T>C" "r.(?)" "p.(Trp960Arg)" "" "0000920683" "00004998" "70" "2878" "0" "2878" "0" "c.2878T>C" "r.(?)" "p.(Trp960Arg)" "" "0000920704" "00004998" "70" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987Ter)" "" "0000920705" "00004998" "70" "3249" "0" "3249" "0" "c.3249del" "r.(?)" "p.(Val1084CysfsTer7)" "" "0000921174" "00004998" "50" "3149" "0" "3149" "0" "c.3149T>C" "r.(?)" "p.(Leu1050Pro)" "20" "0000921174" "00025820" "50" "3149" "0" "3149" "0" "c.3149T>C" "r.(?)" "p.(Leu1050Pro)" "" "0000921195" "00025820" "50" "3676" "0" "3678" "0" "c.3676_3678del" "r.(?)" "p.(Asn1226del)" "23" "0000925990" "00004998" "30" "4570" "0" "4570" "0" "c.4570A>G" "r.(?)" "p.(Thr1524Ala)" "" "0000925990" "00025820" "30" "4738" "0" "4738" "0" "c.4738A>G" "r.(?)" "p.(Thr1580Ala)" "" "0000931668" "00025820" "90" "2034" "0" "2034" "0" "c.2034T>G" "r.(?)" "p.(Tyr678Ter)" "" "0000931669" "00025820" "70" "2174" "0" "2176" "0" "c.2174_2176del" "r.(?)" "p.(Glu725del)" "" "0000950387" "00004998" "90" "2034" "0" "2034" "0" "c.2034T>G" "r.(?)" "p.(Tyr678*)" "" "0000950387" "00025820" "90" "2034" "0" "2034" "0" "c.2034T>G" "r.(?)" "p.(Tyr678*)" "" "0000981284" "00004998" "70" "2148" "-17" "2148" "-17" "c.2148-17G>A" "r.(=)" "p.(=)" "" "0000981284" "00025820" "70" "2148" "-17" "2148" "-17" "c.2148-17G>A" "r.(=)" "p.(=)" "" "0000981285" "00004998" "50" "1190" "0" "1190" "0" "c.1190G>A" "r.(?)" "p.(Arg397His)" "" "0000981285" "00025820" "50" "1190" "0" "1190" "0" "c.1190G>A" "r.(?)" "p.(Arg397His)" "" "0001001506" "00004998" "30" "3085" "0" "3085" "0" "c.3085A>G" "r.(?)" "p.(Met1029Val)" "" "0001001506" "00025820" "30" "3085" "0" "3085" "0" "c.3085A>G" "r.(?)" "p.(Met1029Val)" "" "0001026461" "00004998" "50" "4910" "0" "4910" "0" "c.4910C>T" "r.(?)" "p.(Pro1637Leu)" "" "0001026461" "00025820" "50" "5078" "0" "5078" "0" "c.5078C>T" "r.(?)" "p.(Pro1693Leu)" "" "0001026462" "00004998" "90" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987*)" "" "0001026462" "00025820" "90" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987*)" "" "0001040420" "00004998" "30" "3564" "-3" "3564" "-3" "c.3564-3del" "r.spl?" "p.?" "" "0001040420" "00025820" "30" "3732" "-3" "3732" "-3" "c.3732-3del" "r.spl?" "p.?" "" "0001040421" "00004998" "30" "2000" "0" "2000" "0" "c.2000A>G" "r.(?)" "p.(Lys667Arg)" "" "0001040421" "00025820" "30" "2000" "0" "2000" "0" "c.2000A>G" "r.(?)" "p.(Lys667Arg)" "" "0001040422" "00004998" "50" "1550" "0" "1550" "0" "c.1550T>A" "r.(?)" "p.(Val517Asp)" "" "0001040422" "00025820" "50" "1550" "0" "1550" "0" "c.1550T>A" "r.(?)" "p.(Val517Asp)" "" "0001040423" "00004998" "70" "1421" "0" "1421" "0" "c.1421T>G" "r.(?)" "p.(Leu474*)" "" "0001040423" "00025820" "70" "1421" "0" "1421" "0" "c.1421T>G" "r.(?)" "p.(Leu474*)" "" "0001040424" "00004998" "50" "4" "0" "4" "0" "c.4T>A" "r.(?)" "p.(Ser2Thr)" "" "0001040424" "00025820" "50" "4" "0" "4" "0" "c.4T>A" "r.(?)" "p.(Ser2Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 37 "{{screeningid}}" "{{variantid}}" "0000050560" "0000079540" "0000050560" "0000079687" "0000050560" "0000079688" "0000207508" "0000437170" "0000207508" "0000437171" "0000207509" "0000437172" "0000207510" "0000437173" "0000207511" "0000437174" "0000207511" "0000437175" "0000207512" "0000437176" "0000207513" "0000437177" "0000207514" "0000437178" "0000207515" "0000437179" "0000207515" "0000437180" "0000207516" "0000437181" "0000207517" "0000437182" "0000207517" "0000437195" "0000207518" "0000437183" "0000207518" "0000437184" "0000207519" "0000437185" "0000207519" "0000437186" "0000207520" "0000437187" "0000207520" "0000437188" "0000207521" "0000437189" "0000207521" "0000437190" "0000207522" "0000437191" "0000207522" "0000437192" "0000207523" "0000437193" "0000207523" "0000437194" "0000207524" "0000437196" "0000207524" "0000437197" "0000434805" "0000920682" "0000434805" "0000920704" "0000434806" "0000920683" "0000434806" "0000920705" "0000435223" "0000921174" "0000435223" "0000921195"