### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLOD1) # 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}}" "PLOD1" "procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1" "1" "p36.22" "unknown" "NG_008159.1" "UD_132118324937" "" "https://www.LOVD.nl/PLOD1" "" "1" "9081" "5351" "153454" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/PLOD1_codingDNA.html" "1" "" "

Ehlers Danlos Syndrome Variant Database

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" "-1" "" "-1" "00001" "2010-11-08 00:00:00" "00006" "2024-02-15 09:03:20" "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}}" "00016372" "PLOD1" "procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1" "001" "NM_000302.3" "" "NP_000293.2" "" "" "" "-113" "2918" "2184" "11994724" "12035599" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00169" "EDS" "Ehlers-Danlos syndrome (EDS)" "" "" "" "" "" "00006" "2013-08-01 11:03:44" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00539" "CVDPX" "dysplasia, valvular, caridac (EDS5)" "XL" "305200" "" "" "" "00006" "2014-09-25 22:12:50" "00006" "2024-02-13 14:05:31" "00540" "EDSKSCL1" "Ehlers-Danlos syndrome, kyphoscoliotic type, 1" "AR" "225400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-02-13 14:06:43" "00638" "EDSCV" "Ehlers-Danlos syndrome, cardiac valvular form" "AR" "225320" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01302" "EDSVASC" "Ehlers-Danlos, vascular type syndrome (EDSVASC EDS4 EDSIV)" "AD" "130050" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05323" "MYP" "myopia (MYP)" "" "" "" "" "" "00006" "2017-09-01 15:07:55" "" "" "05818" "Gastroschisis" "Gastroschisis" "" "230750" "" "" "" "03701" "2020-08-24 12:58:40" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PLOD1" "00169" "PLOD1" "00540" ## Individuals ## Do not remove or alter this header ## ## Count = 104 "{{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}}" "00265907" "" "" "" "1" "" "00006" "{PMID:Cummings 2017:28424332}" "" "" "" "" "" "0" "" "" "" "PatD12" "00289497" "" "" "" "90" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289498" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289499" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289500" "" "" "" "28" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289501" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304145" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306113" "" "" "" "1" "" "03672" "" "" "F" "no" "China" "" "0" "" "" "" "" "00306190" "" "" "" "1" "" "03695" "" "" "F" "" "" "" "" "" "" "" "88" "00318044" "" "" "" "1" "" "00085" "{PMID:Yeowell et al., 2000:10686424}" "The PLOD1 variants, c.169C>T and the 15-bp deletion at position c.1123_1137, are both incorrectly described in {PMID:Yeowell et al., 2000:10686424}. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession M98252. The patient died at the age of 14 due to an arterial rupture.This patient is also described as Cell Line 716 by {PMID:Yeowell et al., 2000:10874315}." "" "" "" "" "0" "" "" "" "" "00318045" "" "" "" "1" "" "00085" "{PMID:Heikkinen et al., 1999:10502784}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "British" "" "00318046" "" "" "" "1" "" "00085" "{PMID:Micha et al., 2019:31668813}" "" "" "" "" "" "0" "" "" "" "P9" "00318047" "" "" "" "1" "" "00085" "{PMID:van Dijk et al., 2017:28757364}" "" "" "" "" "" "0" "" "" "" "P1" "00318048" "" "" "" "1" "" "00085" "{PMID:Rohrbach et al., 2011:21699693}" "" "" "" "Serbia" "" "0" "" "" "Serbian" "P2" "00318049" "" "" "" "1" "" "00085" "{PMID:Huang et al., 2009:19442614}" "A study by {PMID:Huang et al., 2009:19442614} reported a significant genotypic/allelic association between the polymorphism and bone mineral density within the chinese population. {PMID:Tasker et al., 2006:16758144} also observed a weak association between this SNP and spinal bone mineral density." "" "" "" "" "0" "" "" "" "" "00318050" "" "" "" "1" "" "00085" "{PMID:Tasker et al., 2006:16758144}" "A study by {PMID:Tasker et al., 2006:16758144} found an association between this PLOD1 variant and bone mineral density for the lumbar spine in a cohort of 678 Scottish women. A similar association is also reported in {PMID:Yamada et al., 2007:17390085} found within the Japanese population. Both studies have incorrectly described the variant as 386G>A." "" "" "" "" "0" "" "" "" "" "00318051" "" "" "" "1" "" "00085" "{PMID:Tasker et al., 2005:16758144}" "The variant is shown to be associated with decreased lumbar spine bone mineral density measurements, but this only occurs when the variant is heterozygous, not homozygous, in the patient. The authors incorrectly described this variant as G386A, and incorrectly described it as causing a change in codon 99." "" "" "Scotland" "" "0" "" "" "Scottish" "" "00318052" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00318053" "" "" "" "1" "" "00085" "{PMID:Yeowell et al., 2000:10874315}" "The PLOD1 variants are incorrectly described as 450T>A and 1003C>T in {PMID:Yeowell et al., 2000:10874315}. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252." "" "" "United States" "" "0" "" "" "North American" "" "00318054" "" "" "" "1" "" "00085" "{PMID:Rohrbach et al., 2011:21699693}" "The splice-site variant in this patient is predicted to result in skipping of exon 4." "" "" "Spain" "" "0" "" "" "Spanish" "P10" "00318055" "" "" "" "1" "" "00085" "{PMID:Micha et al., 2019:31668813}" "" "" "" "" "" "0" "" "" "" "P8" "00318056" "" "" "" "1" "" "00085" "{PMID:Yeowell and Walker, 1997:9220536}" "The paternally inherited variant is incorrectly described as c.1557C>G in {PMID9220536:Yeowell and Walker, 1997}. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252.The patient\'s unaffected younger sibling was one of the first individuals to have a prenatal assessment of EDS VI by mutational anaylsis. This is reported in {PMID9893157:Yeowell and Walker, 1999}; the outcome of the assessment revealed the foetus had inherited the maternal allele containing the splice-site mutation and a normal non-mutated allele from the father. Although a carrier of this disease, the individual was born healthy.The patient is also described as cell line 996 by {PMID:Yeowell et al., 2000:10874315}." "" "" "" "" "0" "" "" "" "" "00318057" "" "" "" "1" "" "00085" "{PMID:Abdalla et al., 2015:25277362}" "The parents are first cousins." "" "" "Egypt" "" "0" "" "" "Egyptian" "Family 1" "00318058" "" "" "" "1" "" "00085" "{PMID:Spotila et al., 2003:14565595}" "A study by {PMID:Spotila et al., 2003:14565595} found an association between this SNP in the PLOD1 gene and bone mineral density in the lumbar spine and femoral neck among a population of European descent." "" "" "" "" "0" "" "" "" "" "00318059" "" "" "" "1" "" "00085" "{PMID:van Dijk et al., 2017:28757364}" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "P2" "00318060" "" "" "" "1" "" "00085" "{PMID:Shin et al., 2020:32174067}" "Compound heterozygous variants resulting in a kyphoscoliotic EDS phenotype were found in two korean siblings. The technique used was the custom NGS Gene panel." "" "" "Korea" "" "0" "" "" "Korean" "" "00318061" "" "" "" "1" "" "00085" "{PMID:Hyland et al., 1992:1345174}" "According to the pedigree in figure 3, the probands are actually the second (H.A.) and fourth (N.A.) children in the family, rather than the third and fifth, as reported. The parents are first cousins." "" "" "" "" "0" "" "" "Turkish(?)" "" "00318062" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 2005b:15979919}" "Patient has consanguineous parents. The PLOD1 variant is incorrectly described as c.845C>T in {PMID:Giunta et al., 2005b:15979919}. The correct variant description has been confirmed with the authors." "" "" "" "" "0" "" "" "Arab" "P6" "00318063" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 2005a:15666309}" "The parents of P1 are first cousins. The PLOD1 variant is incorrectly described as c.954CGA>TGA in {PMID:Giunta et al., 2005a:15666309}." "" "" "" "" "0" "" "" "Arab" "P1" "00318064" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 2005a:15666309}" "The patient has first cousin parents. The mutation is incorrectly described as c.954CGA>TGA in {PMID:Giunta et al., 2005a:15666309}." "" "" "" "" "0" "" "" "Arab" "P2" "00318065" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 2005a:15666309}" "P3 has first cousin parents and is a second cousin to P2 in {PMID:Giunta et al., 2005a:15666309}. The PLOD1 variant is incorrectly described as c.954CGA>TGA in the paper." "" "" "" "" "0" "" "" "Arab" "P3" "00318066" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 2005a:15666309}" "The parents of P4 are first cousins. The PLOD1 variant is incorrectly described as c.954CGA>TGA in {PMID:Giunta et al., 2005a:15666309}. The patient has also been previously reported as case 1 in {PMID9152832:al-Gazali et al., 1997}, with Nevo Syndrome." "" "" "" "" "0" "" "" "Arab" "P4" "00318067" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 2005a:15666309}" "P5 is the first child of distantly related parents and has an affected sister reported as P6 in {PMID:Giunta et al., 2005a:15666309}. The affected sibling harbours the same variant. There is variability in the phenotype as P6 is diagnosed with Nevo Syndrome.The PLOD1 variant is incorrectly described as c.954CGA>TGA in {PMID:Giunta et al., 2005a:15666309}. The patient has also been previously reported as case 2 in {PMID9152832:al-Gazali et al., 1997}, with Nevo Syndrome." "" "" "" "" "0" "" "" "Arab" "P5" "00318068" "" "" "" "1" "" "00085" "{PMID:Pajunen at al., 1998:9502428}" "The patient\'s parents are related by blood; the father and maternal grandfather of the patient are cousins.This patient was mentioned, in passing, in the introduction of {PMID8981946:Heikkinen et al., 1997}." "" "" "" "" "0" "" "" "" "" "00318069" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 2005b:15979919}" "P1 has consanguineous parents and also has a female sibling who is more severly affected. The PLOD1 variant is incorrectly described as c.1067_1846dup in {PMID:Giunta et al., 2005b:15979919}. The actual variant details have been confirmed with the authors.The patient is clinically described as patient O.A.in {PMID9714013:Jarisch et al., 1998}. An affected sibling of the patient, M.A., is also described in {PMID9714013:Jarisch et al., 1998}. Both siblings are affected with both EDS VI and Cystic Fibrosis." "" "" "Turkey" "" "0" "" "" "Turkish" "P1" "00318070" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 2005b:15979919}" "The consanguinity of parents of the patient is unknown. The PLOD1 variant is incorrectly described as c.1067_1846dup in {PMID:Giunta et al., 2005b:15979919}. The actual variant details have been confirmed with the authors." "" "" "Albania" "" "0" "" "" "Albanian" "P3" "00318071" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 2005b:15979919}" "The PLOD1 variant is incorrectly described as c.1067_1846dup in {PMID:Giunta et al., 2005b:15979919}. The actual variant details have been confirmed with the authors." "" "" "Germany" "" "0" "" "" "German" "P2" "00318072" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 2005b:15979919}" "The patient has consanguineous parents. The PLOD1 variant is incorrectly described as c.1067_1846dup in {PMID:Giunta et al., 2005b:15979919}. The actual variant details have been confirmed with the authors." "" "" "Bosnia and Herzegovina" "" "0" "" "" "Bosnian" "P4" "00318073" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 2005b:15979919}" "The paternal duplication variant was published by {PMID8981946:Heikkinen et al., 1997} (presumably as patient AB) whereas the maternal mutation remained undetectable at that time.The maternal variant is incorrectly described as c.1253delC in {PMID:Giunta et al., 2005b:15979919}. The protein effect is also incorrect described in the same paper as p.Ile454IlefsX2. The paternal variant is incorrectly described as c.1067_1846dup in {PMID:Giunta et al., 2005b:15979919}. The actual variant details have been confirmed with the authors." "" "" "Bosnia and Herzegovina" "" "0" "" "" "Bosnian" "P5" "00318074" "" "" "" "1" "" "00085" "{PMID:Heikkinen et al., 1997:8981946}" "The parents of the patient are first cousins. There are two affected members in the family." "" "" "Turkey" "" "0" "" "" "Turkish" "" "00318075" "" "" "" "1" "" "00085" "{PMID:Heikkinen et al., 1997:8981946}" "The parents of the patient are first cousins. The patient has two clinically healthy sisters, of whom one was found to be a carrier for the duplicated allele in an enzyme assay reported in {PMID8981946:Heikkinen et al., 1997}." "" "" "Iran" "" "0" "" "" "Iranian" "" "00318076" "" "" "" "1" "" "00085" "{PMID:Heikkinen et al., 1997:8981946}" "There are two affected members in the family." "" "" "United States" "" "0" "" "" "American" "" "00318077" "" "" "" "1" "" "00085" "{PMID:Heikkinen et al., 1997:8981946}" "curated: RWMD 16/08/2011" "" "" "Russia" "" "0" "" "" "Russian" "" "00318078" "" "" "" "1" "" "00085" "{PMID:Brinckmann et al., 1998:9617436}" "The PLOD1 variant is incorrectly described as duplication of the nucleotide 1176-1955 in {PMID9617436:Brinckmann et al., 1998}." "" "" "" "" "0" "" "" "" "P1" "00318079" "" "" "" "1" "" "00085" "{PMID:Brinckmann et al., 1998:9617436}" "The patient was an adopted turkish girl. The mutation is incorrectly described as a duplication in the nucleotide 1176-1955 in {PMID9617436:Brinckmann et al., 1998}." "" "" "Turkey" "" "0" "" "" "Turkish" "P3" "00318080" "" "" "" "1" "" "00085" "{PMID:Yeowell et al., 2005:16172044}" "The patient is the first child of healthy consanguineous parents. The patient also suffers from cystic malformations of the meninges which is described in {PMID:Brunk et al., 2004:14872341}." "" "" "Turkey" "" "0" "" "" "Turkish" "" "00318081" "" "" "" "1" "" "00085" "{PMID:Yeowell et al., 2000:10874315}" "The PLOD1 substitution variant is incorrectly described as 2032C>T in {PMID:Yeowell et al., 2000:10874315}. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252.A prenatal diagnosis on the patient\'s male sibling was carried out. This too is reported in {PMID:Yeowell et al., 2000:10874315} and the outcome of the assessment revealed that the fetus had inherited the mutated paternal allele and a normal non-mutated allele from the mother. Although a carrier of this disease, the individual was born healthy." "" "" "United States" "" "0" "" "" "North American" "" "00318082" "" "" "" "1" "" "00085" "{PMID:Yeowell et al., 2000:10874315}" "The PLOD1 substitution variant is incorrectly described as 1557C>G in {PMID:Yeowell et al., 2000:10874315}. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252." "" "" "United States" "" "0" "" "" "North American" "" "00318083" "" "" "" "1" "" "00085" "{PMID:Pousi et al., 1994:7977351}" "This patient was originally analyzed and clinically described by {PMID4373475:Sussman et al., 1974}. This patient also has an affected brother, described as Case 2 in {PMID4373475:Sussman et al., 1974}. The patient is also mentioned subsequently by {PMID8981946:Heikkinen et al., 1997} clarifying the ethnic origin." "" "" "United States" "" "0" "" "" "white (American)" "" "00318084" "" "" "" "1" "" "00085" "{PMID:Heikkinen et al., 1997:8981946}" "" "" "" "Germany" "" "0" "" "" "German" "" "00318085" "" "" "" "1" "" "00085" "{PMID:Hautala et al., 1993:8449506}" "The sister of the patient also harbours the same variant and she is described as GM01791 in {PMID8449506:Hautala et al., 1993}. The two siblings are also clinically reported in {PMID5016372:Pinnell et al., 1972} and {PMID4342967:Krane et al., 1972}. The father of the patients is of English-Irish ancestry and the mother is a mixture of Cherokee Indian, Welsh and Dutch. DNA from neither parent is available for study. In {PMID8449506:Hautala et al., 1993}, the nucleotide position of the variant is incorrectly described as 1176 to 1955. The patient is also mentioned subsequently by {PMID8981946:Heikkinen et al., 1997} giving the ethnic origin." "" "" "United States" "" "0" "" "" "American" "" "00318086" "" "" "" "1" "" "00085" "{PMID:Heikkinen et al., 1997:8981946}" "The sequence variant of PLOD1 gene in the other allele of the patient is unknown." "" "" "United States" "" "0" "" "" "American" "" "00318087" "" "" "" "1" "" "00085" "{PMID:Rohrbach et al., 2011:21699693}" "" "" "" "Macedonia" "" "0" "" "" "Macedonian" "P1" "00318088" "" "" "" "1" "" "00085" "{PMID:Rohrbach et al., 2011:21699693}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "P4" "00318089" "" "" "" "1" "" "00085" "{PMID:Abdalla et al., 2015:25277362}" "The parents are first cousins." "" "" "Egypt" "" "0" "" "" "Egyptian" "Family 3" "00318090" "" "" "" "1" "" "00085" "{PMID:Abdalla et al., 2015:25277362}" "The parents are first cousins." "" "" "Egypt" "" "0" "" "" "Egyptian" "Family 4" "00318091" "" "" "" "1" "" "00085" "{PMID:Sakai et al., 2011:22001912}" "The technique used was the custom NGS Gene panel." "" "" "Japan" "" "0" "" "" "Japanese" "" "00318092" "" "" "" "1" "" "00085" "{PMID:Yeowell et al., 2000:10874315}" "The PLOD1 variant is incorrectly described as 1003C>T in {PMID:Yeowell et al., 2000:10874315}. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252." "" "" "United States" "" "0" "" "" "North American" "" "00318093" "" "" "" "1" "" "00085" "{PMID:Rohrbach et al., 2011:21699693}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "P9" "00318094" "" "" "" "1" "" "00085" "{PMID:Yeowell et al., 2000:10686424}" "The PLOD1 15-bp deletion and c.1095C>T variants are both incorrectly described in {PMID:Yeowell et al., 2000:10686424}. This is due to incorrect use use of an alternative incomplete PLOD1 mRNA sequence: GenBank accession no. M98252.The c.1095C>T variant creates a cryptic splice site resulting in loss of the last 4 bases of exon 10 or skipping of exon 10.This patient is also described as Cell Line 959 by {PMID:Yeowell et al., 2000:10874315}." "" "" "" "" "0" "" "" "" "" "00318095" "" "" "" "1" "" "00085" "{PMID:Rohrbach et al., 2011:21699693}" "The c.1095C > T transition in exon 10 is expected to activate a cryptic splice site within exon 10 which would promote aberrant splicing, shift of the open reading frame and premature stop at codon 386." "" "" "Turkey" "" "0" "" "" "Turkish" "P5" "00318096" "" "" "" "1" "" "03716" "" "The patient had a positive family history: her younger sister died at 9 years because of spontaneous abdominal aortic rupture. Urinary pyridinoline analysis showed a significantly increased lysyl-pyridinoline to hydroxylysyl-pyridinoline (LH/HP).The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "white" "" "00318097" "" "" "" "1" "" "00085" "{PMID:Sakai et al., 2011:22001912}" "The technique used was the custom NGS Gene panel." "" "" "Japan" "" "0" "" "" "Japanese" "" "00318098" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 2009:19320025}" "The unequal recombination ocurring between the two palindromic AGCT sequences are incorrectly described as ACGT in {PMID:Giunta et al., 2009:19320025}." "" "" "" "" "0" "" "" "" "" "00318099" "" "" "" "1" "" "00085" "{PMID:Spotila et al., 2003:14565595}" "A study by {PMID:Spotila et al., 2003:14565595} found an assosiation between this SNP in the PLOD1 gene and bone mineral density in the lumbar spine and femoral neck among a population of European descent. The position of the SNP is incorrectly described in the paper as T1406C. This is due to use of an alternative mRNA sequence for PLOD1: NM_000302.1." "" "" "" "" "0" "" "" "" "" "00318100" "" "" "" "1" "" "00085" "{PMID:Rohrbach et al., 2011:21699693}" "A personal communication from one of the authors reveals that the underlying cDNA-level variant is c.1255dup which implies that the published protein-level description of p.(Trp419Leufs*48) for the this patient is incorrect." "" "" "Iraq" "" "0" "" "" "Iraqi" "P12" "00318101" "" "" "" "1" "" "00085" "{PMID:Kariminejad et al., 2010.:23056730} Iran J Pediatr 20(3):358-362" "The patient is the first child of parents who are cousins once removed. This patient is the one reported by {PMID:Giunta et al., 2009:19320025} as HM080082." "" "" "Iran" "" "0" "" "" "Iranian" "" "00318102" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 2009:19320025}" "In {PMID:Giunta et al., 2009:19320025}, the reference sequence (NM_000302.2) has been incorrectly described as NM_000303.2. Only one variant has been reported for this patient." "" "" "" "" "0" "" "" "" "" "00318103" "" "" "" "1" "" "00085" "{PMID:Walker et al., 2005:15854030}" "The patient is a daugther of consanguineous parents. The PLOD1 variant is incorrectly described as 1360T>G in {PMID:Walker et al., 2005:15854030}. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252." "" "" "Turkey" "" "0" "" "" "Turkish" "" "00318104" "" "" "" "1" "" "00085" "{PMID:Yiş et al., 2008:18155911}" "The patient is the third child of consanguineous parents. The PLOD1 variant is incorrectly described as c.1360T>G by the authors. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession M98252." "" "" "Turkey" "" "0" "" "" "Turkish" "" "00318105" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 2005b:15979919}" "The consanguinity of parents of the patient is unknown. The PLOD1 variant is incorrectly described as c.1144delC in {PMID:Giunta et al., 2005b:15979919}. The protein effect is also incorrect described in the same paper as p.Ile454IlefsX2. The actual variant details have been confirmed with the authors." "" "" "Greece" "" "0" "" "" "Greek" "P7" "00318106" "" "" "" "1" "" "00085" "{PMID:Salvoura et al., 2006:17100196}" "The patient\'s parents are probably related, although consanguinity was not mentioned. The protein effect is incorrect described in {PMID:Salvoura et al., 2006:17100196} as p.Ile454fsX2." "" "" "Albania" "" "0" "" "" "Albanian" "" "00318107" "" "" "" "1" "" "00085" "{PMID:Gok et al., 2012:22981642}" "The patient is the third child of non-consanguineous Turkish parents. He has two elder male siblings who did not display symptoms of kyphoscoliotic EDS." "" "" "Turkey" "" "0" "" "" "Turkish" "Patient IV:3" "00318108" "" "" "" "1" "" "00085" "{PMID:Sakai et al., 2011:22001912}" "The technique used was the custom NGS Gene panel." "" "" "Japan" "" "0" "" "" "Japanese" "" "00318109" "" "" "" "1" "" "00085" "{PMID:Salinas-Torres et al., 2020:32163230}" "The proband and her half-sister were born with gastroschisis. Both individuals and their shared mother carried the variant. This variant was described in the paper as ENST00000376369.3:c.1612-8C>T.The technique used was whole exome sequencing." "" "" "Mexico" "" "0" "" "" "Mexican" "Patient III:2" "00318110" "" "" "" "1" "" "00085" "{PMID:Rohrbach et al., 2011:21699693}" "The c.1471-1G>A variant is predicted to create a cryptic splice site in exon 14 resulting in an out-of-frame deletion of the first 55 bp of exon 14 and a premature stop codon in exon 17." "" "" "Iran" "" "0" "" "" "Iranian" "P3" "00318111" "" "" "" "1" "" "00085" "{PMID:Sakai et al., 2011:22001912}" "The technique used was the custom NGS Gene panel." "" "" "Japan" "" "0" "" "" "Japanese" "" "00318112" "" "" "" "1" "" "00085" "{PMID:Pousi et al., 2000:10729709}" "The maternally inherited exon-14 PTC mutation also results in abnormal splicing with exon 14 being commonly skipped. This results in deletion of 38-amino acid deletion. The mutation on the paternal allele and how it causes low-level expression is still not known." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "British" "" "00318113" "" "" "" "1" "" "00085" "{PMID:Walker et al., 1999:10329027}" "The father\'s DNA was unavailable for analysis. The mother was 14 years old when the patient was born. Although there is a high likelihood of consanguinity, the father has not been unequivocally identified. The PLOD1 variant is incorrectly described in {PMID:Walker et al., 1999:10329027} as 1557C>G. This is due to incorrect use of an alternative PLOD1 mRNA sequnece: GenBank accession no. M98252. This patient is described in {PMID:Yeowell et al., 2000:11001813} and also in {PMID:Yeowell et al., 2000:10874315} as cell line 1122." "" "" "" "" "0" "" "" "" "" "00318114" "" "" "" "1" "" "00085" "{PMID:Yeowell et al., 2000:10874315}" "The PLOD1 variant is incorrectly described as 1557C>G in {PMID:Yeowell et al., 2000:10874315}. This is due to incorrect use of an alternative PLOD1 mRNA sequnece: GenBank accession no. M98252." "" "" "United States" "" "0" "" "" "North American" "" "00318115" "" "" "" "1" "" "02120" "" "" "" "" "" "" "0" "" "" "white" "" "00318116" "" "" "" "1" "" "00085" "{PMID:Ha et al., 1994:8163671}" "The three-base deletion at positions 1618_1620 and the missense mutation at position 2056 are incorrectly described in {PMID8163671:Ha et al., 1994}. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252.The patient is also described in {PMID7646078:Yeowell et al., 1995} and again as cell line 750 in {PMID:Yeowell et al., 2000:10874315}." "" "" "Mexico" "" "0" "" "" "Mexican-American" "" "00318117" "" "" "" "1" "" "00085" "{PMID:Spotila et al., 2003:14565595}" "A study by {PMID:Spotila et al., 2003:14565595} found an association between this SNP in the PLOD1 gene and bone mineral density in the lumbar spine and femoral neck among a population of European descent. The position of the SNP is incorrectly described in the paper as A1832C. This is due to use of an alternative mRNA sequence for the PLOD1 gene: NM_000302.1." "" "" "" "" "0" "" "" "" "" "00318118" "" "" "" "1" "" "00085" "{PMID:Rohrbach et al., 2011:21699693}" "" "" "" "Netherlands" "" "0" "" "" "Dutch" "P6" "00318119" "" "" "" "1" "" "00085" "{PMID:Micha et al., 2019:31668813}" "The authors state that they a deep intronic variant is expected to have been missed in this patient." "" "" "" "" "0" "" "" "" "P7" "00318120" "" "" "" "1" "" "00085" "{PMID:Pousi et al.,1998:9450904}" "The parents of the patient are third-degree cousins but their consanguinity does not contribute to the disease of the patient. The patient has also been previously reported by {PMID429005:Krieg et al.,1979}. Another individual in the same family diagnosed with Ehlers-Danlos Syndrome Type VI is described by {PMID6432919:Ihme et al.,1984}." "" "" "Germany" "" "0" "" "" "German" "" "00318121" "" "" "" "1" "" "00085" "{PMID:Yeowell et al., 2000:10874315}" "The PLOD1 variant has been incorrectly described as 1702insC in {PMID:Yeowell et al., 2000:10874315}. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252." "" "" "United States" "" "0" "" "" "North American" "" "00318122" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 2005a:15666309}" "The parents of the patient are first cousins. The patient has also been previously described in {PMID8574422:Hilderink and Brunner, 1995}." "" "" "Netherlands" "" "0" "" "" "Dutch" "P7" "00318123" "" "" "" "1" "" "00085" "{PMID:Brinckmann et al., 1998:9617436}" "P2 (A.K.) is a compound heterozygote patient; the mutated paternal allele is speculated to be a null allele as only cDNA could be analysed. The maternally inherited variant is incorrectly described as c.2036G>C in {PMID9617436:Brinckmann et al., 1998}." "" "" "" "" "0" "" "" "" "P2" "00318124" "" "" "" "1" "" "00085" "{PMID:Tosun et al., 2014:25266621}" "The parents were cousins." "" "" "" "" "0" "" "" "" "" "00318125" "" "" "" "1" "" "00085" "{PMID:Kloss et al., 2017:28384719}" "This variant is associated with high myopia, and cosegregated with the phenotype.The technique used was whole exome sequencing." "" "" "Denmark" "" "0" "" "" "Danish" "Family 122" "00318126" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 2005b:15979919}" "The patient has consanguineous parents. The PLOD1 variant is incorrectly described as c.1890G>A in {PMID:Giunta et al., 2005b:15979919}. The actual variant details has been confirmed with the authors." "" "" "Italy" "" "0" "" "" "Italian" "P8" "00318127" "" "" "" "1" "" "00085" "{PMID:Abdalla et al., 2015:25277362}" "The parents are first cousins.The premature stop codon in exon 18 does not trigger NMD." "" "" "Egypt" "" "0" "" "" "Egyptian" "Family 2" "00318128" "" "" "" "1" "" "00085" "{PMID:Rohrbach et al., 2011:21699693}" "" "" "" "Somalia" "" "0" "" "" "Somalian" "P7" "00318129" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 2005b:15979919}" "P9 has a female sibling who is more severly affected and the consanguinity of their parents are unknown. The PLOD1 variant is incorrectly described as c.2008A>G in {PMID:Giunta et al., 2005b:15979919}. The actual variant details has been confirmed with the authors." "" "" "France" "" "0" "" "" "French" "P9" "00390029" "" "" "" "1" "" "00000" "{PMID:Ruberto 2020:32507954}" "" "?" "" "Italy" "" "0" "" "" "" "16" "00413452" "" "" "" "1" "" "00006" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "" "" "0" "" "" "" "" "00413453" "" "" "" "1" "" "00006" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "" "" "0" "" "" "" "" "00414790" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00434996" "" "" "" "1" "" "03524" "" "" "F" "no" "" "" "" "" "" "" "" "00434997" "" "" "" "1" "" "03524" "" "" "M" "?" "" "" "0" "" "" "" "" "00448057" "" "" "" "2" "" "00006" "{PMID:Hyland 1992:1345174}, {PMID:Steinmann 1995:8533783}" "2-generation family, 2 affected sisters, unaffected heterozygous parents (first cousin)/relatives" "F" "" "Qatar" "" "0" "" "" "" "FamPatHA/NA" "00448059" "" "" "" "1" "" "00006" "{PMID:Pousi 1994:7977351}" "" "F" "" "Finland" "" "0" "" "" "white" "patient" "00460971" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 177 "{{individualid}}" "{{diseaseid}}" "00265907" "05121" "00289497" "00198" "00289498" "00198" "00289499" "00198" "00289500" "00198" "00289501" "00198" "00304145" "00198" "00306113" "00539" "00306190" "00638" "00318044" "00169" "00318044" "00540" "00318045" "00169" "00318045" "00540" "00318046" "00169" "00318046" "00540" "00318047" "00169" "00318047" "00540" "00318048" "00169" "00318048" "00540" "00318049" "00198" "00318050" "00198" "00318051" "00198" "00318052" "00198" "00318053" "00169" "00318053" "00540" "00318054" "00169" "00318054" "00540" "00318055" "00169" "00318055" "00540" "00318056" "00169" "00318056" "00540" "00318057" "00169" "00318057" "00540" "00318058" "00198" "00318059" "00169" "00318059" "00540" "00318060" "00169" "00318060" "00540" "00318061" "00169" "00318061" "00540" "00318062" "00169" "00318062" "00540" "00318063" "00169" "00318063" "00540" "00318064" "00169" "00318064" "00540" "00318065" "00169" "00318065" "00540" "00318066" "00169" "00318066" "00540" "00318067" "00169" "00318067" "00540" "00318068" "00169" "00318068" "00540" "00318069" "00169" "00318069" "00540" "00318070" "00169" "00318070" "00540" "00318071" "00169" "00318071" "00540" "00318072" "00169" "00318072" "00540" "00318073" "00169" "00318073" "00540" "00318074" "00169" "00318074" "00540" "00318075" "00169" "00318075" "00540" "00318076" "00169" "00318076" "00540" "00318077" "00169" "00318077" "00540" "00318078" "00169" "00318078" "00540" "00318079" "00169" "00318079" "00540" "00318080" "00169" "00318080" "00540" "00318081" "00169" "00318081" "01302" "00318082" "00169" "00318082" "00540" "00318083" "00169" "00318083" "00540" "00318084" "00169" "00318084" "00540" "00318085" "00169" "00318085" "00540" "00318086" "00169" "00318086" "00540" "00318087" "00169" "00318087" "00540" "00318088" "00169" "00318088" "00540" "00318089" "00169" "00318089" "00540" "00318090" "00169" "00318090" "00540" "00318091" "00198" "00318092" "00169" "00318092" "00540" "00318093" "00169" "00318093" "00540" "00318094" "00169" "00318094" "00540" "00318095" "00169" "00318095" "00540" "00318096" "00169" "00318096" "00540" "00318097" "00198" "00318098" "00169" "00318098" "00540" "00318099" "00198" "00318100" "00169" "00318100" "00540" "00318101" "00169" "00318101" "00540" "00318102" "00169" "00318102" "00540" "00318103" "00169" "00318103" "00540" "00318104" "00169" "00318104" "00540" "00318105" "00169" "00318105" "00540" "00318106" "00169" "00318106" "00540" "00318107" "00169" "00318107" "00540" "00318108" "00198" "00318109" "05818" "00318110" "00169" "00318110" "00540" "00318111" "00198" "00318112" "00169" "00318112" "00540" "00318113" "00169" "00318113" "00540" "00318114" "00169" "00318114" "00540" "00318115" "00169" "00318115" "00540" "00318116" "00169" "00318116" "00540" "00318117" "00198" "00318118" "00169" "00318118" "00540" "00318119" "00169" "00318119" "00540" "00318120" "00169" "00318120" "00540" "00318121" "00169" "00318121" "00540" "00318122" "00169" "00318122" "00540" "00318123" "00169" "00318123" "00540" "00318124" "00169" "00318124" "00540" "00318125" "05323" "00318126" "00169" "00318126" "00540" "00318127" "00169" "00318127" "00540" "00318128" "00169" "00318128" "00540" "00318129" "00169" "00318129" "00540" "00390029" "04214" "00413452" "00169" "00413453" "00169" "00414790" "00540" "00434996" "00169" "00434997" "00169" "00448057" "00169" "00448059" "00169" "00460971" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00169, 00198, 00539, 00540, 00638, 01302, 04214, 05121, 05323, 05818 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{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}}" "0000203684" "05121" "00265907" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000231954" "00638" "00306113" "03672" "Familial, autosomal recessive" "" "HP:0000238;HP:0001252" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000232037" "00638" "00306190" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241829" "00198" "00318051" "00085" "-" "" "Low bone mineral density," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241830" "00198" "00318091" "00085" "-" "" "Aortic aneurysms and/or dissection," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241831" "00198" "00318097" "00085" "-" "" "Aortic aneurysms and/or dissection," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241832" "00198" "00318108" "00085" "-" "" "Aortic aneurysms and/or dissection," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241833" "00198" "00318111" "00085" "-" "" "Aortic aneurysms and/or dissection," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000283569" "04214" "00390029" "00000" "Unknown" "" "Very pale optic disk, chorioretinal atrophy in macular area, highly altered fundus" "" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy" "" "" "0000305425" "00169" "00413452" "00006" "Familial, autosomal recessive" "" "kyphoscoliotic Ehlers-Danlos syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "Ehlers-Danlos syndrome" "" "0000305426" "00169" "00413453" "00006" "Familial, autosomal recessive" "" "kyphoscoliotic Ehlers-Danlos syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "Ehlers-Danlos syndrome" "" "0000325237" "00169" "00434997" "03524" "Familial, autosomal recessive" "" "urinary LP/HP dosage > 6 (abnormal = EDS)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325238" "00169" "00434996" "03524" "Familial, autosomal recessive" "" "urinary LP/HP dosage > 8 (abnormal = EDS)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337246" "00169" "00448057" "00006" "Familial, autosomal recessive" "" "see paper; ..., skin hyperelasticity/fragility, ligamentous laxity, joint hyperextensibility, muscular hypotonia, bluish sclerae, myopia, astigmatism, microcornea" "" "" "" "" "" "" "" "" "" "" "" "" "EDSKCL1" "Ehlers-Danlos syndrome VI" "" "0000337247" "00169" "00448059" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "EDSKCL1" "Ehlers-Danlos syndrome VI" "" ## Screenings ## Do not remove or alter this header ## ## Count = 104 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000267027" "00265907" "1" "00006" "00006" "2019-10-11 12:24:56" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000290665" "00289497" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290666" "00289498" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290667" "00289499" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290668" "00289500" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290669" "00289501" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305274" "00304145" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307242" "00306113" "1" "03672" "03672" "2020-07-08 08:32:52" "" "" "SEQ-NG" "DNA" "" "CES(Clinical Exome Sequencing)" "0000307324" "00306190" "1" "03695" "03695" "2020-07-11 03:29:55" "" "" "SEQ-NG" "DNA" "" "" "0000319226" "00318044" "1" "00085" "00085" "2010-11-25 19:05:24" "00085" "2011-08-03 09:43:14" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000319227" "00318045" "1" "00085" "00085" "2010-11-19 21:57:04" "00085" "2011-08-16 11:48:42" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000319228" "00318046" "1" "00085" "00085" "2020-04-07 12:21:36" "" "" "PCR;SEQ" "DNA" "" "" "0000319229" "00318047" "1" "00085" "00085" "2020-04-07 13:02:52" "" "" "SEQ" "DNA" "" "" "0000319230" "00318048" "1" "00085" "00085" "2011-01-24 14:14:22" "00085" "2011-08-05 11:56:01" "PCR;SEQ" "DNA" "" "" "0000319231" "00318049" "1" "00085" "00085" "2011-01-10 19:03:58" "00085" "2020-08-13 14:53:41" "SEQ" "DNA" "" "" "0000319232" "00318050" "1" "00085" "00085" "2010-11-25 19:58:40" "00085" "2020-08-13 14:54:13" "PCR;SEQ" "DNA" "" "" "0000319233" "00318051" "1" "00085" "00085" "2020-04-23 15:53:57" "00085" "2020-04-23 15:54:37" "PCR;SEQ" "DNA" "" "" "0000319234" "00318052" "1" "00085" "00085" "2011-07-26 15:37:46" "00085" "2011-07-26 15:38:50" "SEQ" "DNA" "" "" "0000319235" "00318053" "1" "00085" "00085" "2010-11-20 21:52:46" "00085" "2011-08-03 15:52:45" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000319236" "00318054" "1" "00085" "00085" "2011-01-24 14:19:08" "00085" "2011-08-04 14:59:54" "PCR;SEQ" "DNA" "" "" "0000319237" "00318055" "1" "00085" "00085" "2020-04-07 12:19:21" "" "" "PCR;SEQ" "DNA" "" "" "0000319238" "00318056" "1" "00085" "00085" "2011-01-06 17:31:55" "00085" "2011-08-23 12:54:25" "PCR;SEQ;Southern" "DNA" "" "" "0000319239" "00318057" "1" "00085" "00085" "2015-06-12 10:50:22" "" "" "PCR;SEQ" "DNA" "" "" "0000319240" "00318058" "1" "00085" "00085" "2011-01-07 20:16:29" "00085" "2020-08-13 14:55:12" "PCR;SEQ" "DNA" "" "" "0000319241" "00318059" "1" "00085" "00085" "2020-04-07 13:15:07" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000319242" "00318060" "1" "00085" "00085" "2020-04-07 12:03:19" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000319243" "00318061" "1" "00085" "00085" "2010-11-08 14:59:53" "00085" "2011-08-04 13:35:45" "RT-PCR;SEQ" "RNA" "" "" "0000319244" "00318062" "1" "00085" "00085" "2010-11-16 14:13:47" "00085" "2011-08-16 15:04:37" "PCR;SEQ" "DNA" "" "" "0000319245" "00318063" "1" "00085" "00085" "2010-11-17 14:15:16" "00085" "2011-08-16 15:00:44" "PCR;SEQ" "DNA" "" "" "0000319246" "00318064" "1" "00085" "00085" "2010-11-17 14:19:18" "00085" "2011-08-16 15:01:19" "PCR;SEQ" "DNA" "" "" "0000319247" "00318065" "1" "00085" "00085" "2010-11-17 14:21:31" "00085" "2011-08-16 15:01:40" "PCR;SEQ" "DNA" "" "" "0000319248" "00318066" "1" "00085" "00085" "2010-11-17 14:27:45" "00085" "2011-08-16 15:22:39" "PCR;SEQ" "DNA" "" "" "0000319249" "00318067" "1" "00085" "00085" "2010-11-17 14:34:42" "00085" "2011-08-16 15:23:16" "PCR;SEQ" "DNA" "" "" "0000319250" "00318068" "1" "00085" "00085" "2010-11-25 17:26:18" "00085" "2011-08-16 13:27:50" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000319251" "00318069" "1" "00085" "00085" "2010-11-15 21:24:22" "00085" "2011-08-16 15:05:49" "PCR;SEQ" "DNA" "" "" "0000319252" "00318070" "1" "00085" "00085" "2010-11-15 21:41:00" "00085" "2011-08-16 15:06:45" "CSGE" "DNA" "" "" "0000319253" "00318071" "1" "00085" "00085" "2010-11-15 21:44:27" "00085" "2011-08-16 15:07:16" "PCR;SEQ" "DNA" "" "" "0000319254" "00318072" "1" "00085" "00085" "2010-11-15 21:51:02" "00085" "2011-08-16 15:07:48" "PCR;SEQ" "DNA" "" "" "0000319255" "00318073" "1" "00085" "00085" "2010-11-16 12:15:35" "00085" "2011-08-16 14:54:42" "PCR;SEQ" "DNA" "" "" "0000319256" "00318074" "1" "00085" "00085" "2010-11-16 20:04:55" "00085" "2011-08-16 13:34:41" "PCR;SEQ;Southern" "DNA" "" "" "0000319257" "00318075" "1" "00085" "00085" "2010-11-16 20:13:04" "00085" "2011-08-16 13:33:23" "PCR;SEQ;Southern" "DNA" "" "" "0000319258" "00318076" "1" "00085" "00085" "2010-11-17 12:51:28" "00085" "2011-08-16 15:25:43" "PCR;SEQ;Southern" "DNA" "" "" "0000319259" "00318077" "1" "00085" "00085" "2010-11-17 12:54:50" "00085" "2011-08-16 15:27:03" "PCR;SEQ;Southern" "DNA" "" "" "0000319260" "00318078" "1" "00085" "00085" "2010-11-17 21:21:24" "00085" "2011-08-04 10:20:08" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000319261" "00318079" "1" "00085" "00085" "2010-11-17 21:25:19" "00085" "2011-08-04 10:19:11" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000319262" "00318080" "1" "00085" "00085" "2010-11-20 20:39:02" "00085" "2011-08-03 15:29:00" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000319263" "00318081" "1" "00085" "00085" "2010-11-20 21:29:46" "00085" "2011-08-03 15:53:23" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000319264" "00318082" "1" "00085" "00085" "2010-11-20 21:44:49" "00085" "2011-08-03 15:53:53" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000319265" "00318083" "1" "00085" "00085" "2010-11-24 10:51:22" "00085" "2011-08-16 15:33:26" "PCR;RT-PCR;SEQ;Southern" "DNA;RNA" "" "" "0000319266" "00318084" "1" "00085" "00085" "2010-11-26 18:18:56" "00085" "2011-08-25 16:32:56" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000319267" "00318085" "1" "00085" "00085" "2010-11-26 19:12:38" "00085" "2011-08-23 11:48:53" "RT-PCR;SEQ;Southern" "DNA;RNA" "" "" "0000319268" "00318086" "1" "00085" "00085" "2011-01-06 14:56:52" "00085" "2011-08-16 15:27:59" "PCR;SEQ;Southern" "DNA" "" "" "0000319269" "00318087" "1" "00085" "00085" "2011-08-05 09:09:28" "00085" "2011-08-05 09:10:24" "PCR;SEQ" "DNA" "" "" "0000319270" "00318088" "1" "00085" "00085" "2011-08-05 09:11:58" "" "" "PCR;SEQ" "DNA" "" "" "0000319271" "00318089" "1" "00085" "00085" "2015-06-12 11:20:49" "" "" "PCR;SEQ" "DNA" "" "" "0000319272" "00318090" "1" "00085" "00085" "2015-06-12 11:29:58" "" "" "PCR;SEQ" "DNA" "" "" "0000319273" "00318091" "1" "00085" "00085" "2020-04-08 15:36:41" "00085" "2020-04-08 15:45:52" "SEQ-NG;SEQ" "DNA" "" "" "0000319274" "00318092" "1" "00085" "00085" "2010-11-20 21:21:04" "00085" "2011-08-03 15:54:17" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000319275" "00318093" "1" "00085" "00085" "2011-01-24 14:21:59" "00085" "2011-08-04 14:16:33" "PCR;SEQ" "DNA" "" "" "0000319276" "00318094" "1" "00085" "00085" "2010-11-25 19:30:36" "00085" "2011-08-03 15:55:06" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000319277" "00318095" "1" "00085" "00085" "2011-08-04 15:08:53" "00085" "2011-08-04 15:10:18" "PCR;SEQ" "DNA" "" "" "0000319278" "00318096" "1" "03716" "03716" "2016-10-24 11:17:36" "00085" "2016-10-24 16:47:46" "SEQ-NG" "DNA" "" "" "0000319279" "00318097" "1" "00085" "00085" "2020-04-08 15:45:23" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000319280" "00318098" "1" "00085" "00085" "2011-01-28 14:23:32" "00085" "2011-08-04 13:09:37" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000319281" "00318099" "1" "00085" "00085" "2011-01-07 20:23:32" "00085" "2020-08-13 14:55:45" "PCR;SEQ" "DNA" "" "" "0000319282" "00318100" "1" "00085" "00085" "2011-01-24 14:24:32" "00085" "2011-08-05 08:39:40" "PCR;SEQ" "DNA" "" "" "0000319283" "00318101" "1" "00085" "00085" "2010-11-09 16:45:15" "00085" "2020-04-07 16:19:42" "PCR;SEQ" "DNA" "" "" "0000319284" "00318102" "1" "00085" "00085" "2011-01-20 19:21:06" "00085" "2011-01-28 14:28:44" "PCR;SEQ" "DNA" "" "" "0000319285" "00318103" "1" "00085" "00085" "2010-11-19 23:53:56" "00085" "2011-08-03 15:51:17" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000319286" "00318104" "1" "00085" "00085" "2010-11-20 22:12:33" "00085" "2013-08-02 09:31:04" "PCR;SEQ" "DNA" "" "" "0000319287" "00318105" "1" "00085" "00085" "2010-11-16 15:25:03" "00085" "2011-08-16 15:08:30" "PCR;SEQ" "DNA" "" "" "0000319288" "00318106" "1" "00085" "00085" "2010-11-23 16:51:16" "00085" "2011-08-05 12:50:29" "PCR;SEQ" "DNA" "" "" "0000319289" "00318107" "1" "00085" "00085" "2020-04-17 13:48:43" "00085" "2020-04-17 14:20:08" "SEQ" "DNA" "" "" "0000319290" "00318108" "1" "00085" "00085" "2020-04-08 15:52:10" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000319291" "00318109" "1" "00085" "00085" "2020-04-23 16:39:00" "00085" "2020-07-08 11:30:21" "SEQ;SEQ-NG" "DNA" "" "" "0000319292" "00318110" "1" "00085" "00085" "2011-01-28 12:08:29" "00085" "2011-08-04 14:10:31" "PCR;SEQ" "DNA" "" "" "0000319293" "00318111" "1" "00085" "00085" "2020-04-08 16:02:07" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000319294" "00318112" "1" "00085" "00085" "2010-11-19 23:22:14" "00085" "2011-08-04 11:15:32" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000319295" "00318113" "1" "00085" "00085" "2010-11-19 23:41:57" "00085" "2011-08-03 10:42:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000319296" "00318114" "1" "00085" "00085" "2010-11-20 21:09:18" "00085" "2011-08-03 15:55:55" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000319297" "00318115" "1" "02120" "02120" "2017-04-06 10:32:46" "" "" "SEQ" "DNA" "" "" "0000319298" "00318116" "1" "00085" "00085" "2010-11-17 22:22:13" "00085" "2011-08-23 12:57:29" "RT-PCR;SEQ" "RNA" "" "" "0000319299" "00318117" "1" "00085" "00085" "2011-01-07 20:29:13" "00085" "2020-08-13 14:56:13" "PCR;SEQ" "DNA" "" "" "0000319300" "00318118" "1" "00085" "00085" "2011-01-25 10:43:23" "00085" "2011-08-04 14:49:37" "PCR;SEQ" "DNA" "" "" "0000319301" "00318119" "1" "00085" "00085" "2020-04-07 12:09:59" "00085" "2020-04-07 12:11:28" "PCR;SEQ" "DNA" "" "" "0000319302" "00318120" "1" "00085" "00085" "2011-01-20 18:11:32" "00085" "2011-08-05 15:15:00" "PCR;SEQ;Southern" "DNA" "" "" "0000319303" "00318121" "1" "00085" "00085" "2010-11-20 21:02:58" "00085" "2011-08-03 15:56:22" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000319304" "00318122" "1" "00085" "00085" "2011-01-27 14:24:21" "00085" "2011-08-23 12:59:22" "PCR;Southern" "DNA" "" "" "0000319305" "00318123" "1" "00085" "00085" "2010-11-17 21:33:25" "00085" "2011-08-04 09:56:55" "PCR;RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000319306" "00318124" "1" "00085" "00085" "2014-10-02 09:52:30" "" "" "PCR;SEQ" "DNA" "" "" "0000319307" "00318125" "1" "00085" "00085" "2020-04-23 16:05:41" "" "" "SEQ-NG" "DNA" "" "" "0000319308" "00318126" "1" "00085" "00085" "2010-11-16 15:38:23" "00085" "2011-08-16 15:09:10" "PCR;SEQ" "DNA" "" "" "0000319309" "00318127" "1" "00085" "00085" "2015-06-12 10:56:27" "00085" "2015-06-12 10:59:50" "PCR;SEQ" "DNA" "" "" "0000319310" "00318128" "1" "00085" "00085" "2011-08-04 16:32:09" "" "" "PCR;SEQ" "DNA" "" "" "0000319311" "00318129" "1" "00085" "00085" "2010-11-16 16:40:05" "00085" "2011-08-16 15:09:40" "PCR;SEQ" "DNA" "" "" "0000391270" "00390029" "1" "00000" "03840" "2021-11-08 12:01:50" "" "" "arrayCGH" "DNA" "" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000414729" "00413452" "1" "00006" "00006" "2022-07-18 17:04:47" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000414730" "00413453" "1" "00006" "00006" "2022-07-18 17:04:47" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000416071" "00414790" "1" "01741" "01741" "2022-08-04 15:56:42" "" "" "SEQ-NG" "DNA" "" "" "0000436469" "00434996" "1" "03524" "03524" "2023-04-18 15:02:06" "" "" "SEQ-NG" "DNA" "" "" "0000436470" "00434997" "1" "03524" "03524" "2023-04-18 15:18:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000449630" "00448057" "1" "00006" "00006" "2024-02-14 11:32:47" "00006" "2024-02-14 11:38:28" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000449631" "00448059" "1" "00006" "00006" "2024-02-14 11:45:27" "" "" "PCR;RT-PCR;SEQ;Southern" "DNA;RNA" "" "" "0000462603" "00460971" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 96 "{{screeningid}}" "{{geneid}}" "0000267027" "PLOD1" "0000307242" "AACSP1" "0000307324" "PLOD1" "0000319226" "PLOD1" "0000319227" "PLOD1" "0000319228" "PLOD1" "0000319229" "PLOD1" "0000319230" "PLOD1" "0000319231" "PLOD1" "0000319232" "PLOD1" "0000319233" "PLOD1" "0000319234" "PLOD1" "0000319235" "PLOD1" "0000319236" "PLOD1" "0000319237" "PLOD1" "0000319238" "PLOD1" "0000319239" "PLOD1" "0000319240" "PLOD1" "0000319241" "PLOD1" "0000319242" "PLOD1" "0000319243" "PLOD1" "0000319244" "PLOD1" "0000319245" "PLOD1" "0000319246" "PLOD1" "0000319247" "PLOD1" "0000319248" "PLOD1" "0000319249" "PLOD1" "0000319250" "PLOD1" "0000319251" "PLOD1" "0000319252" "PLOD1" "0000319253" "PLOD1" "0000319254" "PLOD1" "0000319255" "PLOD1" "0000319256" "PLOD1" "0000319257" "PLOD1" "0000319258" "PLOD1" "0000319259" "PLOD1" "0000319260" "PLOD1" "0000319261" "PLOD1" "0000319262" "PLOD1" "0000319263" "PLOD1" "0000319264" "PLOD1" "0000319265" "PLOD1" "0000319266" "PLOD1" "0000319267" "PLOD1" "0000319268" "PLOD1" "0000319269" "PLOD1" "0000319270" "PLOD1" "0000319271" "PLOD1" "0000319272" "PLOD1" "0000319273" "PLOD1" "0000319274" "PLOD1" "0000319275" "PLOD1" "0000319276" "PLOD1" "0000319277" "PLOD1" "0000319278" "PLOD1" "0000319279" "PLOD1" "0000319280" "PLOD1" "0000319281" "PLOD1" "0000319282" "PLOD1" "0000319283" "PLOD1" "0000319284" "PLOD1" "0000319285" "PLOD1" "0000319286" "PLOD1" "0000319287" "PLOD1" "0000319288" "PLOD1" "0000319289" "PLOD1" "0000319290" "PLOD1" "0000319291" "PLOD1" "0000319292" "PLOD1" "0000319293" "PLOD1" "0000319294" "PLOD1" "0000319295" "PLOD1" "0000319296" "PLOD1" "0000319297" "PLOD1" "0000319298" "PLOD1" "0000319299" "PLOD1" "0000319300" "PLOD1" "0000319301" "PLOD1" "0000319302" "PLOD1" "0000319303" "PLOD1" "0000319304" "PLOD1" "0000319305" "PLOD1" "0000319306" "PLOD1" "0000319307" "PLOD1" "0000319308" "PLOD1" "0000319309" "PLOD1" "0000319310" "PLOD1" "0000319311" "PLOD1" "0000391270" "NMNAT1" "0000416071" "PLOD1" "0000436469" "PLOD1" "0000436470" "PLOD1" "0000449630" "PLOD1" "0000449631" "PLOD1" "0000462603" "PLOD1" ## 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 = 302 "{{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}}" "0000245496" "0" "10" "1" "12040324" "12040324" "subst" "0" "02330" "MFN2_000121" "g.12040324A>G" "" "" "" "MFN2(NM_014874.4):c.-367A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11980267A>G" "" "benign" "" "0000250335" "0" "30" "1" "12012722" "12012722" "subst" "0.00294428" "02329" "PLOD1_000128" "g.12012722A>T" "" "" "" "PLOD1(NM_000302.3):c.509A>T (p.(Glu170Val)), PLOD1(NM_000302.4):c.509A>T (p.E170V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11952665A>T" "" "likely benign" "" "0000250404" "0" "30" "1" "11995176" "11995176" "subst" "0" "02329" "PLOD1_000112" "g.11995176A>G" "" "" "" "PLOD1(NM_000302.4):c.76+264A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11935119A>G" "" "likely benign" "" "0000250508" "0" "90" "1" "12020704" "12020704" "del" "0" "02329" "PLOD1_000141" "g.12020704del" "" "" "" "PLOD1(NM_000302.4):c.977delA (p.E326Gfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11960647del" "" "pathogenic" "" "0000250525" "0" "90" "1" "12027042" "12027042" "subst" "3.24929E-5" "02329" "PLOD1_000039" "g.12027042A>G" "" "" "" "PLOD1(NM_000302.3):c.1651-2A>G, PLOD1(NM_000302.4):c.1651-2A>G, PLOD1(NM_001316320.2):c.1792-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11966985A>G" "" "pathogenic" "" "0000254616" "0" "30" "1" "12024799" "12024799" "subst" "9.34557E-5" "01943" "PLOD1_000149" "g.12024799A>G" "" "" "" "PLOD1(NM_000302.3):c.1427A>G (p.K476R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11964742A>G" "" "likely benign" "" "0000255359" "0" "70" "1" "12009905" "12009905" "subst" "0" "01943" "PLOD1_000052" "g.12009905A>T" "" "" "" "PLOD1(NM_000302.3):c.244A>T (p.K82*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11949848A>T" "" "likely pathogenic" "" "0000256691" "0" "50" "1" "12012678" "12012678" "subst" "0" "01943" "PLOD1_000050" "g.12012678A>G" "" "" "" "PLOD1(NM_000302.3):c.467-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11952621A>G" "" "VUS" "" "0000279685" "0" "10" "1" "12040479" "12040479" "subst" "0" "02330" "MFN2_000122" "g.12040479T>C" "" "" "" "MFN2(NM_014874.4):c.-212T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11980422T>C" "" "benign" "" "0000298889" "0" "10" "1" "12023632" "12023632" "subst" "0.00159095" "02329" "PLOD1_000143" "g.12023632G>A" "" "" "" "PLOD1(NM_000302.3):c.1141G>A (p.(Val381Met)), PLOD1(NM_000302.4):c.1141G>A (p.V381M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11963575G>A" "" "benign" "" "0000298890" "0" "30" "1" "12023655" "12023655" "subst" "0.000443124" "02329" "PLOD1_000144" "g.12023655C>T" "" "" "" "PLOD1(NM_000302.4):c.1164C>T (p.T388=), PLOD1(NM_001316320.1):c.1305C>T (p.T435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11963598C>T" "" "likely benign" "" "0000298891" "0" "10" "1" "12024235" "12024235" "subst" "0.362399" "02329" "PLOD1_000026" "g.12024235C>T" "" "" "" "PLOD1(NM_000302.4):c.1206C>T (p.N402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11964178C>T" "" "benign" "" "0000298892" "0" "10" "1" "12024374" "12024374" "subst" "0" "02329" "PLOD1_000147" "g.12024374T>G" "" "" "" "PLOD1(NM_000302.4):c.1328+17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11964317T>G" "" "benign" "" "0000298893" "0" "10" "1" "12024681" "12024681" "subst" "0.00546718" "02329" "PLOD1_000148" "g.12024681G>A" "" "" "" "PLOD1(NM_000302.4):c.1329-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11964624G>A" "" "benign" "" "0000298894" "0" "30" "1" "12008091" "12008091" "subst" "2.84241E-5" "02329" "PLOD1_000116" "g.12008091G>A" "" "" "" "PLOD1(NM_000302.4):c.135G>A (p.K45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11948034G>A" "" "likely benign" "" "0000298895" "0" "30" "1" "12024800" "12024800" "subst" "0.000284456" "02329" "PLOD1_000150" "g.12024800G>A" "" "" "" "PLOD1(NM_000302.3):c.1428G>A (p.K476=), PLOD1(NM_000302.4):c.1428G>A (p.K476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11964743G>A" "" "likely benign" "" "0000298896" "0" "10" "1" "12009838" "12009838" "subst" "0.00624954" "02329" "PLOD1_000118" "g.12009838C>T" "" "" "" "PLOD1(NM_000302.4):c.177C>T (p.G59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11949781C>T" "" "benign" "" "0000298897" "0" "90" "1" "12030875" "12030875" "subst" "0" "02329" "PLOD1_000159" "g.12030875T>C" "" "" "" "PLOD1(NM_000302.4):c.1902+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11970818T>C" "" "pathogenic" "" "0000298898" "0" "30" "1" "12034766" "12034766" "subst" "0" "02329" "PLOD1_000161" "g.12034766C>G" "" "" "" "PLOD1(NM_000302.4):c.2085C>G (p.G695=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11974709C>G" "" "likely benign" "" "0000298899" "0" "10" "1" "12034805" "12034805" "subst" "0.0196407" "02329" "PLOD1_000162" "g.12034805T>C" "" "" "" "PLOD1(NM_000302.3):c.2124T>C (p.(=)), PLOD1(NM_000302.4):c.2124T>C (p.H708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11974748T>C" "" "benign" "" "0000298900" "0" "10" "1" "12034814" "12034814" "subst" "0.00916388" "02329" "PLOD1_000163" "g.12034814C>G" "" "" "" "PLOD1(NM_000302.4):c.2133C>G (p.L711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11974757C>G" "" "benign" "" "0000298901" "0" "30" "1" "12009904" "12009904" "subst" "2.03069E-5" "02329" "PLOD1_000119" "g.12009904G>A" "" "" "" "PLOD1(NM_000302.3):c.243G>A (p.L81=), PLOD1(NM_000302.4):c.243G>A (p.L81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11949847G>A" "" "likely benign" "" "0000298902" "0" "10" "1" "12009911" "12009911" "subst" "0.0136579" "02329" "PLOD1_000121" "g.12009911G>A" "" "" "" "PLOD1(NM_000302.3):c.250G>A (p.(Ala84Thr)), PLOD1(NM_000302.4):c.250G>A (p.A84T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11949854G>A" "" "benign" "" "0000298903" "0" "10" "1" "12009955" "12009955" "subst" "0.331149" "02329" "PLOD1_000028" "g.12009955C>T" "" "" "" "PLOD1(NM_000302.4):c.294C>T (p.F98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11949898C>T" "" "benign" "" "0000298904" "0" "10" "1" "12009956" "12009956" "subst" "0.179998" "02329" "PLOD1_000022" "g.12009956G>A" "" "" "" "PLOD1(NM_000302.4):c.295G>A (p.A99T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11949899G>A" "" "benign" "" "0000298905" "0" "30" "1" "12009978" "12009978" "subst" "0.00190224" "02329" "PLOD1_000124" "g.12009978G>A" "" "" "" "PLOD1(NM_000302.4):c.302+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11949921G>A" "" "likely benign" "" "0000298906" "0" "30" "1" "12010522" "12010522" "subst" "0.000178703" "02329" "PLOD1_000125" "g.12010522G>A" "" "" "" "PLOD1(NM_000302.4):c.411G>A (p.R137=), PLOD1(NM_001316320.1):c.552G>A (p.R184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11950465G>A" "" "likely benign" "" "0000298907" "0" "10" "1" "12012753" "12012753" "subst" "0.00482058" "02329" "PLOD1_000129" "g.12012753G>A" "" "" "" "PLOD1(NM_000302.4):c.540G>A (p.Q180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11952696G>A" "" "benign" "" "0000298908" "0" "30" "1" "12012809" "12012809" "subst" "0.000480852" "02329" "PLOD1_000131" "g.12012809G>A" "" "" "" "PLOD1(NM_000302.4):c.579+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11952752G>A" "" "likely benign" "" "0000298909" "0" "10" "1" "12016957" "12016957" "subst" "0.0680615" "02329" "PLOD1_000025" "g.12016957T>G" "" "" "" "PLOD1(NM_000302.4):c.644-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11956900T>G" "" "benign" "" "0000298910" "0" "10" "1" "11994929" "11994929" "subst" "0.000939328" "02329" "PLOD1_000111" "g.11994929C>T" "" "" "" "PLOD1(NM_000302.4):c.76+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11934872C>T" "" "benign" "" "0000298911" "0" "30" "1" "12017961" "12017961" "subst" "0.000617244" "02329" "PLOD1_000134" "g.12017961C>T" "" "" "" "PLOD1(NM_000302.3):c.804C>T (p.T268=), PLOD1(NM_000302.4):c.804C>T (p.T268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11957904C>T" "" "likely benign" "" "0000298912" "0" "30" "1" "12018017" "12018017" "subst" "0.000435515" "02329" "PLOD1_000136" "g.12018017G>C" "" "" "" "PLOD1(NM_000302.4):c.843+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11957960G>C" "" "likely benign" "" "0000298913" "0" "30" "1" "12018557" "12018557" "subst" "2.05496E-5" "02329" "PLOD1_000137" "g.12018557G>A" "" "" "" "PLOD1(NM_000302.4):c.844-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11958500G>A" "" "likely benign" "" "0000298914" "0" "30" "1" "12018599" "12018599" "subst" "4.07568E-5" "02329" "PLOD1_000139" "g.12018599C>T" "" "" "" "PLOD1(NM_000302.4):c.870C>T (p.V290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11958542C>T" "" "likely benign" "" "0000298915" "0" "30" "1" "12018717" "12018717" "subst" "0.00158583" "02329" "PLOD1_000140" "g.12018717C>T" "" "" "" "PLOD1(NM_000302.4):c.975+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11958660C>T" "" "likely benign" "" "0000305917" "0" "30" "1" "12020834" "12020834" "subst" "1.22458E-5" "01943" "PLOD1_000142" "g.12020834G>A" "" "" "" "PLOD1(NM_000302.3):c.1097+10G>A, PLOD1(NM_001316320.2):c.1238+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11960777G>A" "" "likely benign" "" "0000305918" "0" "50" "1" "12008065" "12008065" "subst" "0.000154305" "01943" "PLOD1_000114" "g.12008065G>A" "" "" "" "PLOD1(NM_000302.3):c.109G>A (p.E37K), PLOD1(NM_000302.4):c.109G>A (p.(Glu37Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11948008G>A" "" "VUS" "" "0000305919" "0" "30" "1" "12023655" "12023655" "subst" "0.000443124" "01943" "PLOD1_000144" "g.12023655C>T" "" "" "" "PLOD1(NM_000302.4):c.1164C>T (p.T388=), PLOD1(NM_001316320.1):c.1305C>T (p.T435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11963598C>T" "" "likely benign" "" "0000305920" "0" "30" "1" "12023656" "12023656" "subst" "0" "01943" "PLOD1_000145" "g.12023656G>A" "" "" "" "PLOD1(NM_000302.3):c.1165G>A (p.E389K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11963599G>A" "" "likely benign" "" "0000305921" "0" "50" "1" "12008092" "12008092" "subst" "4.46664E-5" "01943" "PLOD1_000117" "g.12008092C>T" "" "" "" "PLOD1(NM_000302.3):c.136C>T (p.R46C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11948035C>T" "" "VUS" "" "0000305922" "0" "30" "1" "12024800" "12024800" "subst" "0.000284456" "01943" "PLOD1_000150" "g.12024800G>A" "" "" "" "PLOD1(NM_000302.3):c.1428G>A (p.K476=), PLOD1(NM_000302.4):c.1428G>A (p.K476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11964743G>A" "" "likely benign" "" "0000305923" "0" "50" "1" "12025529" "12025529" "subst" "0.000268697" "01943" "PLOD1_000060" "g.12025529C>T" "" "" "" "PLOD1(NM_000302.3):c.1471-8C>T, PLOD1(NM_001316320.1):c.1612-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11965472C>T" "" "VUS" "" "0000305924" "0" "50" "1" "12025528" "12025528" "subst" "0.00026871" "01943" "PLOD1_000151" "g.12025528C>G" "" "" "" "PLOD1(NM_000302.3):c.1471-9C>G, PLOD1(NM_001316320.1):c.1612-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11965471C>G" "" "VUS" "" "0000305925" "0" "50" "1" "12025582" "12025582" "subst" "1.21883E-5" "01943" "PLOD1_000153" "g.12025582C>T" "" "" "" "PLOD1(NM_000302.3):c.1516C>T (p.L506F, p.(Leu506Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11965525C>T" "" "VUS" "" "0000305926" "0" "50" "1" "12025621" "12025621" "subst" "1.21994E-5" "01943" "PLOD1_000154" "g.12025621G>A" "" "" "" "PLOD1(NM_000302.3):c.1555G>A (p.D519N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11965564G>A" "" "VUS" "" "0000305927" "0" "50" "1" "12026373" "12026373" "subst" "6.49818E-5" "01943" "PLOD1_000155" "g.12026373G>A" "" "" "" "PLOD1(NM_000302.3):c.1650G>A (p.T550=), PLOD1(NM_001316320.2):c.1791G>A (p.T597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11966316G>A" "" "VUS" "" "0000305928" "0" "30" "1" "12027034" "12027034" "subst" "1.21866E-5" "01943" "PLOD1_000156" "g.12027034C>T" "" "" "" "PLOD1(NM_000302.3):c.1651-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11966977C>T" "" "likely benign" "" "0000305929" "0" "50" "1" "12030760" "12030760" "subst" "3.65753E-5" "01943" "PLOD1_000158" "g.12030760C>T" "" "" "" "PLOD1(NM_000302.3):c.1789C>T (p.P597S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11970703C>T" "" "VUS" "" "0000305930" "0" "50" "1" "12032953" "12032953" "subst" "0.000548188" "01943" "PLOD1_000059" "g.12032953G>A" "" "" "" "PLOD1(NM_000302.3):c.1927G>A (p.V643I), PLOD1(NM_001316320.2):c.2068G>A (p.V690I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11972896G>A" "" "VUS" "" "0000305931" "0" "30" "1" "12009904" "12009904" "subst" "2.03069E-5" "01943" "PLOD1_000119" "g.12009904G>A" "" "" "" "PLOD1(NM_000302.3):c.243G>A (p.L81=), PLOD1(NM_000302.4):c.243G>A (p.L81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11949847G>A" "" "likely benign" "" "0000305932" "0" "50" "1" "12008084" "12008084" "subst" "2.43635E-5" "01943" "PLOD1_000115" "g.12008084G>A" "" "" "" "PLOD1(NM_000302.3):c.128G>A (p.R43H), PLOD1(NM_000302.4):c.128G>A (p.(Arg43His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11948027G>A" "" "VUS" "" "0000305933" "0" "50" "1" "12012780" "12012785" "del" "0" "01943" "PLOD1_000130" "g.12012780_12012785del" "" "" "" "PLOD1(NM_000302.3):c.567_572delCCCGGA (p.D189_P190del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11952723_11952728del" "" "VUS" "" "0000305934" "0" "30" "1" "12012721" "12012721" "subst" "1.21833E-5" "01943" "PLOD1_000127" "g.12012721G>A" "" "" "" "PLOD1(NM_001316320.1):c.649G>A (p.E217K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11952664G>A" "" "likely benign" "" "0000305935" "0" "30" "1" "12017890" "12017890" "subst" "8.12249E-6" "01943" "PLOD1_000133" "g.12017890C>G" "" "" "" "PLOD1(NM_000302.3):c.742-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11957833C>G" "" "likely benign" "" "0000305936" "0" "30" "1" "12008026" "12008026" "subst" "4.06075E-5" "01943" "PLOD1_000113" "g.12008026T>C" "" "" "" "PLOD1(NM_000302.3):c.77-7T>C, PLOD1(NM_000302.4):c.77-7T>C, PLOD1(NM_001316320.2):c.218-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11947969T>C" "" "likely benign" "" "0000305937" "0" "30" "1" "12017961" "12017961" "subst" "0.000617244" "01943" "PLOD1_000134" "g.12017961C>T" "" "" "" "PLOD1(NM_000302.3):c.804C>T (p.T268=), PLOD1(NM_000302.4):c.804C>T (p.T268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11957904C>T" "" "likely benign" "" "0000305938" "0" "50" "1" "12017962" "12017962" "subst" "3.2486E-5" "01943" "PLOD1_000135" "g.12017962G>A" "" "" "" "PLOD1(NM_000302.3):c.805G>A (p.V269M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11957905G>A" "" "VUS" "" "0000305939" "0" "50" "1" "12018585" "12018585" "subst" "9.38094E-5" "01943" "PLOD1_000138" "g.12018585C>T" "" "" "" "PLOD1(NM_000302.3):c.856C>T (p.P286S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11958528C>T" "" "VUS" "" "0000339322" "0" "10" "1" "12009955" "12009955" "subst" "0.331149" "02327" "PLOD1_000028" "g.12009955C>T" "" "" "" "PLOD1(NM_000302.4):c.294C>T (p.F98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11949898C>T" "" "benign" "" "0000339328" "0" "10" "1" "12024235" "12024235" "subst" "0.362399" "02327" "PLOD1_000026" "g.12024235C>T" "" "" "" "PLOD1(NM_000302.4):c.1206C>T (p.N402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11964178C>T" "" "benign" "" "0000341650" "0" "10" "1" "12009956" "12009956" "subst" "0.179998" "02327" "PLOD1_000022" "g.12009956G>A" "" "" "" "PLOD1(NM_000302.4):c.295G>A (p.A99T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11949899G>A" "" "benign" "" "0000350859" "0" "10" "1" "12016957" "12016957" "subst" "0.0680615" "02327" "PLOD1_000025" "g.12016957T>G" "" "" "" "PLOD1(NM_000302.4):c.644-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11956900T>G" "" "benign" "" "0000502686" "0" "30" "1" "12004560" "12004560" "subst" "0" "02326" "PLOD1_000164" "g.12004560C>T" "" "" "" "PLOD1(NM_001316320.2):c.77-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11944503C>T" "" "likely benign" "" "0000502687" "0" "30" "1" "12004675" "12004675" "subst" "0" "01943" "PLOD1_000165" "g.12004675C>T" "" "" "" "PLOD1(NM_001316320.1):c.173C>T (p.S58F), PLOD1(NM_001316320.2):c.173C>T (p.S58F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11944618C>T" "" "likely benign" "" "0000502688" "0" "30" "1" "12008026" "12008026" "subst" "4.06075E-5" "02326" "PLOD1_000113" "g.12008026T>C" "" "" "" "PLOD1(NM_000302.3):c.77-7T>C, PLOD1(NM_000302.4):c.77-7T>C, PLOD1(NM_001316320.2):c.218-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11947969T>C" "" "likely benign" "" "0000502689" "0" "30" "1" "12008026" "12008026" "subst" "4.06075E-5" "02329" "PLOD1_000113" "g.12008026T>C" "" "" "" "PLOD1(NM_000302.3):c.77-7T>C, PLOD1(NM_000302.4):c.77-7T>C, PLOD1(NM_001316320.2):c.218-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11947969T>C" "" "likely benign" "" "0000502690" "0" "50" "1" "12008065" "12008065" "subst" "0.000154305" "01804" "PLOD1_000114" "g.12008065G>A" "" "" "" "PLOD1(NM_000302.3):c.109G>A (p.E37K), PLOD1(NM_000302.4):c.109G>A (p.(Glu37Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11948008G>A" "" "VUS" "" "0000502691" "0" "30" "1" "12009911" "12009911" "subst" "0.0136579" "01804" "PLOD1_000121" "g.12009911G>A" "" "" "" "PLOD1(NM_000302.3):c.250G>A (p.(Ala84Thr)), PLOD1(NM_000302.4):c.250G>A (p.A84T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11949854G>A" "" "likely benign" "" "0000502692" "0" "30" "1" "12009937" "12009937" "subst" "3.65542E-5" "02329" "PLOD1_000166" "g.12009937G>A" "" "" "" "PLOD1(NM_000302.4):c.276G>A (p.E92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11949880G>A" "" "likely benign" "" "0000502693" "0" "30" "1" "12010414" "12010414" "subst" "0.000155387" "02325" "PLOD1_000167" "g.12010414C>T" "" "" "" "PLOD1(NM_000302.3):c.303C>T (p.S101=), PLOD1(NM_000302.4):c.303C>T (p.S101=), PLOD1(NM_001316320.1):c.444C>T (p.S148=), PLOD1(NM_001316320.2):c.444..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11950357C>T" "" "likely benign" "" "0000502694" "0" "30" "1" "12010414" "12010414" "subst" "0.000155387" "02329" "PLOD1_000167" "g.12010414C>T" "" "" "" "PLOD1(NM_000302.3):c.303C>T (p.S101=), PLOD1(NM_000302.4):c.303C>T (p.S101=), PLOD1(NM_001316320.1):c.444C>T (p.S148=), PLOD1(NM_001316320.2):c.444..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11950357C>T" "" "likely benign" "" "0000502695" "0" "10" "1" "12010469" "12010469" "subst" "0.0858955" "02329" "PLOD1_000030" "g.12010469G>T" "" "" "" "PLOD1(NM_000302.3):c.358_359delGCinsTC (p.A120S), PLOD1(NM_000302.4):c.358G>T (p.A120S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11950412G>T" "" "benign" "" "0000502696" "0" "10" "1" "12010469" "12010469" "subst" "0.0858955" "01943" "PLOD1_000030" "g.12010469G>T" "" "" "" "PLOD1(NM_000302.3):c.358_359delGCinsTC (p.A120S), PLOD1(NM_000302.4):c.358G>T (p.A120S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11950412G>T" "" "benign" "" "0000502697" "0" "30" "1" "12010522" "12010522" "subst" "0.000178703" "01943" "PLOD1_000125" "g.12010522G>A" "" "" "" "PLOD1(NM_000302.4):c.411G>A (p.R137=), PLOD1(NM_001316320.1):c.552G>A (p.R184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11950465G>A" "" "likely benign" "" "0000502698" "0" "30" "1" "12012768" "12012768" "subst" "0.00280262" "01943" "PLOD1_000169" "g.12012768G>T" "" "" "" "PLOD1(NM_000302.3):c.555G>T (p.(Lys185Asn)), PLOD1(NM_000302.4):c.555G>T (p.K185N), PLOD1(NM_001316320.1):c.696G>T (p.K232N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11952711G>T" "" "likely benign" "" "0000502699" "0" "30" "1" "12012768" "12012768" "subst" "0.00280262" "01804" "PLOD1_000169" "g.12012768G>T" "" "" "" "PLOD1(NM_000302.3):c.555G>T (p.(Lys185Asn)), PLOD1(NM_000302.4):c.555G>T (p.K185N), PLOD1(NM_001316320.1):c.696G>T (p.K232N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11952711G>T" "" "likely benign" "" "0000502700" "0" "50" "1" "12012770" "12012770" "subst" "0" "01943" "PLOD1_000170" "g.12012770T>C" "" "" "" "PLOD1(NM_001316320.1):c.698T>C (p.I233T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11952713T>C" "" "VUS" "" "0000502702" "0" "50" "1" "12017010" "12017010" "subst" "0" "01943" "PLOD1_000062" "g.12017010G>A" "" "" "" "PLOD1(NM_000302.3):c.680G>A (p.R227K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11956953G>A" "" "VUS" "" "0000502703" "0" "70" "1" "12017071" "12017071" "subst" "0" "02329" "PLOD1_000053" "g.12017071G>A" "" "" "" "PLOD1(NM_000302.4):c.741G>A (p.K247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11957014G>A" "" "likely pathogenic" "" "0000502704" "0" "30" "1" "12017959" "12017959" "subst" "0.000795913" "02329" "PLOD1_000064" "g.12017959A>G" "" "" "" "PLOD1(NM_000302.3):c.802A>G (p.(Thr268Ala)), PLOD1(NM_000302.4):c.802A>G (p.T268A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11957902A>G" "" "likely benign" "" "0000502705" "0" "50" "1" "12020753" "12020753" "subst" "2.84682E-5" "02329" "PLOD1_000065" "g.12020753C>T" "" "" "" "PLOD1(NM_000302.4):c.1026C>T (p.S342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11960696C>T" "" "VUS" "" "0000502706" "0" "30" "1" "12020798" "12020798" "subst" "1.62821E-5" "02329" "PLOD1_000066" "g.12020798G>A" "" "" "" "PLOD1(NM_000302.4):c.1071G>A (p.A357=), PLOD1(NM_001316320.1):c.1212G>A (p.A404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11960741G>A" "" "likely benign" "" "0000502707" "0" "30" "1" "12023643" "12023643" "subst" "4.40121E-5" "02329" "PLOD1_000067" "g.12023643C>T" "" "" "" "PLOD1(NM_000302.4):c.1152C>T (p.D384=), PLOD1(NM_001316320.1):c.1293C>T (p.D431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11963586C>T" "" "likely benign" "" "0000502708" "0" "30" "1" "12023673" "12023673" "subst" "0.000101893" "02326" "PLOD1_000068" "g.12023673G>C" "" "" "" "PLOD1(NM_001316320.2):c.1323G>C (p.R441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11963616G>C" "" "likely benign" "" "0000502709" "0" "30" "1" "12023707" "12023707" "subst" "2.72026E-5" "02326" "PLOD1_000069" "g.12023707G>A" "" "" "" "PLOD1(NM_000302.4):c.1202+14G>A, PLOD1(NM_001316320.2):c.1343+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11963650G>A" "" "likely benign" "" "0000502710" "0" "30" "1" "12023707" "12023707" "subst" "2.72026E-5" "02329" "PLOD1_000069" "g.12023707G>A" "" "" "" "PLOD1(NM_000302.4):c.1202+14G>A, PLOD1(NM_001316320.2):c.1343+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11963650G>A" "" "likely benign" "" "0000502711" "0" "50" "1" "12024706" "12024706" "subst" "0" "01804" "PLOD1_000070" "g.12024706T>G" "" "" "" "PLOD1(NM_000302.3):c.1334T>G (p.(Val445Gly)), PLOD1(NM_001316320.2):c.1475T>G (p.V492G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11964649T>G" "" "VUS" "" "0000502712" "0" "50" "1" "12024706" "12024706" "subst" "0" "02326" "PLOD1_000070" "g.12024706T>G" "" "" "" "PLOD1(NM_000302.3):c.1334T>G (p.(Val445Gly)), PLOD1(NM_001316320.2):c.1475T>G (p.V492G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11964649T>G" "" "VUS" "" "0000502714" "0" "50" "1" "12025600" "12025600" "subst" "0.00317348" "01943" "PLOD1_000071" "g.12025600C>T" "" "" "" "PLOD1(NM_000302.3):c.1534C>T (p.(Arg512Cys)), PLOD1(NM_000302.4):c.1534C>T (p.R512C), PLOD1(NM_001316320.1):c.1675C>T (p.R559C), PLOD1(NM_00131632...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11965543C>T" "" "VUS" "" "0000502715" "0" "30" "1" "12025600" "12025600" "subst" "0.00317348" "01804" "PLOD1_000071" "g.12025600C>T" "" "" "" "PLOD1(NM_000302.3):c.1534C>T (p.(Arg512Cys)), PLOD1(NM_000302.4):c.1534C>T (p.R512C), PLOD1(NM_001316320.1):c.1675C>T (p.R559C), PLOD1(NM_00131632...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11965543C>T" "" "likely benign" "" "0000502716" "0" "10" "1" "12025600" "12025600" "subst" "0.00317348" "02326" "PLOD1_000071" "g.12025600C>T" "" "" "" "PLOD1(NM_000302.3):c.1534C>T (p.(Arg512Cys)), PLOD1(NM_000302.4):c.1534C>T (p.R512C), PLOD1(NM_001316320.1):c.1675C>T (p.R559C), PLOD1(NM_00131632...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11965543C>T" "" "benign" "" "0000502717" "0" "30" "1" "12025600" "12025600" "subst" "0.00317348" "02329" "PLOD1_000071" "g.12025600C>T" "" "" "" "PLOD1(NM_000302.3):c.1534C>T (p.(Arg512Cys)), PLOD1(NM_000302.4):c.1534C>T (p.R512C), PLOD1(NM_001316320.1):c.1675C>T (p.R559C), PLOD1(NM_00131632...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11965543C>T" "" "likely benign" "" "0000502718" "0" "50" "1" "12025630" "12025630" "subst" "0" "01943" "PLOD1_000072" "g.12025630G>A" "" "" "" "PLOD1(NM_001316320.1):c.1705G>A (p.E569K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11965573G>A" "" "VUS" "" "0000502719" "0" "10" "1" "12026355" "12026355" "subst" "0.0612798" "02329" "PLOD1_000027" "g.12026355A>C" "" "" "" "PLOD1(NM_000302.4):c.1632A>C (p.A544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11966298A>C" "" "benign" "" "0000502720" "0" "70" "1" "12027042" "12027042" "subst" "3.24929E-5" "01943" "PLOD1_000039" "g.12027042A>G" "" "" "" "PLOD1(NM_000302.3):c.1651-2A>G, PLOD1(NM_000302.4):c.1651-2A>G, PLOD1(NM_001316320.2):c.1792-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11966985A>G" "" "likely pathogenic" "" "0000502721" "0" "90" "1" "12027042" "12027042" "subst" "3.24929E-5" "02325" "PLOD1_000039" "g.12027042A>G" "" "" "" "PLOD1(NM_000302.3):c.1651-2A>G, PLOD1(NM_000302.4):c.1651-2A>G, PLOD1(NM_001316320.2):c.1792-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11966985A>G" "" "pathogenic" "" "0000502728" "0" "30" "1" "12030714" "12030714" "subst" "0.000455855" "02329" "PLOD1_000075" "g.12030714C>T" "" "" "" "PLOD1(NM_000302.4):c.1756-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11970657C>T" "" "likely benign" "" "0000502729" "0" "10" "1" "12030759" "12030759" "subst" "0.0092701" "02329" "PLOD1_000076" "g.12030759G>T" "" "" "" "PLOD1(NM_000302.4):c.1788G>T (p.V596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11970702G>T" "" "benign" "" "0000502730" "0" "30" "1" "12030762" "12030762" "subst" "5.28322E-5" "02329" "PLOD1_000077" "g.12030762G>A" "" "" "" "PLOD1(NM_000302.4):c.1791G>A (p.P597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11970705G>A" "" "likely benign" "" "0000502731" "0" "30" "1" "12030789" "12030789" "subst" "0.000109738" "02329" "PLOD1_000078" "g.12030789C>A" "" "" "" "PLOD1(NM_000302.4):c.1818C>A (p.I606=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11970732C>A" "" "likely benign" "" "0000502732" "0" "10" "1" "12030886" "12030886" "subst" "0.000725855" "02329" "PLOD1_000079" "g.12030886G>A" "" "" "" "PLOD1(NM_000302.4):c.1902+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11970829G>A" "" "benign" "" "0000502733" "0" "30" "1" "12032952" "12032952" "subst" "8.1213E-6" "02329" "PLOD1_000080" "g.12032952C>T" "" "" "" "PLOD1(NM_000302.4):c.1926C>T (p.V642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11972895C>T" "" "likely benign" "" "0000502734" "0" "30" "1" "12032953" "12032953" "subst" "0.000548188" "02326" "PLOD1_000059" "g.12032953G>A" "" "" "" "PLOD1(NM_000302.3):c.1927G>A (p.V643I), PLOD1(NM_001316320.2):c.2068G>A (p.V690I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11972896G>A" "" "likely benign" "" "0000502735" "0" "30" "1" "12033062" "12033062" "subst" "0.000182841" "02329" "PLOD1_000081" "g.12033062G>T" "" "" "" "PLOD1(NM_000302.4):c.2028+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11973005G>T" "" "likely benign" "" "0000502736" "0" "50" "1" "12034731" "12034731" "subst" "1.22222E-5" "02329" "PLOD1_000082" "g.12034731C>T" "" "" "" "PLOD1(NM_000302.4):c.2050C>T (p.R684C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11974674C>T" "" "VUS" "" "0000502737" "0" "50" "1" "12034830" "12034830" "subst" "0" "01804" "PLOD1_000083" "g.12034830A>C" "" "" "" "PLOD1(NM_000302.3):c.2149A>C (p.(Thr717Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11974773A>C" "" "VUS" "" "0000597876" "1" "90" "1" "12033025" "12033025" "subst" "4.46701E-5" "00006" "PLOD1_000004" "g.12033025G>A" "" "{PMID:Cummings 2017:28424332}" "" "" "RNA allele imbalance" "Germline" "" "" "0" "" "" "g.11972968G>A" "" "pathogenic (recessive)" "" "0000597882" "2" "90" "1" "12025599" "12025599" "subst" "1.21897E-5" "00006" "PLOD1_000012" "g.12025599C>G" "" "{PMID:Cummings 2017:28424332}" "" "" "RNA allele imbalance" "Germline" "" "" "0" "" "" "g.11965542C>G" "" "pathogenic (recessive)" "" "0000604708" "0" "30" "1" "12010414" "12010414" "subst" "0.000155387" "02327" "PLOD1_000167" "g.12010414C>T" "" "" "" "PLOD1(NM_000302.3):c.303C>T (p.S101=), PLOD1(NM_000302.4):c.303C>T (p.S101=), PLOD1(NM_001316320.1):c.444C>T (p.S148=), PLOD1(NM_001316320.2):c.444..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11950357C>T" "" "likely benign" "" "0000604709" "0" "30" "1" "12012721" "12012721" "subst" "1.21833E-5" "02327" "PLOD1_000127" "g.12012721G>A" "" "" "" "PLOD1(NM_001316320.1):c.649G>A (p.E217K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11952664G>A" "" "likely benign" "" "0000604710" "0" "30" "1" "12012722" "12012722" "subst" "0.00294428" "01804" "PLOD1_000128" "g.12012722A>T" "" "" "" "PLOD1(NM_000302.3):c.509A>T (p.(Glu170Val)), PLOD1(NM_000302.4):c.509A>T (p.E170V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11952665A>T" "" "likely benign" "" "0000604711" "0" "50" "1" "12018681" "12018681" "subst" "0" "02327" "PLOD1_000087" "g.12018681A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11958624A>G" "" "VUS" "" "0000604712" "0" "30" "1" "12018692" "12018692" "subst" "0" "02327" "PLOD1_000088" "g.12018692C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11958635C>T" "" "likely benign" "" "0000604713" "0" "30" "1" "12020798" "12020798" "subst" "1.62821E-5" "01943" "PLOD1_000066" "g.12020798G>A" "" "" "" "PLOD1(NM_000302.4):c.1071G>A (p.A357=), PLOD1(NM_001316320.1):c.1212G>A (p.A404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11960741G>A" "" "likely benign" "" "0000604714" "0" "50" "1" "12020824" "12020824" "subst" "9.37757E-5" "02327" "PLOD1_000089" "g.12020824C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11960767C>T" "" "VUS" "" "0000604715" "0" "50" "1" "12024356" "12024356" "subst" "0" "02327" "PLOD1_000090" "g.12024356G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11964299G>A" "" "VUS" "" "0000604716" "0" "50" "1" "12026373" "12026373" "subst" "6.49818E-5" "02326" "PLOD1_000155" "g.12026373G>A" "" "" "" "PLOD1(NM_000302.3):c.1650G>A (p.T550=), PLOD1(NM_001316320.2):c.1791G>A (p.T597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11966316G>A" "" "VUS" "" "0000620367" "0" "30" "1" "12004663" "12004663" "subst" "0" "01943" "PLOD1_000086" "g.12004663G>A" "" "" "" "PLOD1(NM_000302.3):c.77-3370G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11944606G>A" "" "likely benign" "" "0000620368" "0" "50" "1" "12032956" "12032956" "subst" "5.2788E-5" "02326" "PLOD1_000091" "g.12032956C>T" "" "" "" "PLOD1(NM_001316320.2):c.2071C>T (p.R691C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11972899C>T" "" "VUS" "" "0000647354" "1" "30" "1" "12009911" "12009911" "subst" "0.0136579" "03575" "PLOD1_000121" "g.12009911G>A" "90/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "90 heterozygous; {DB:CLININrs34878020}" "Germline" "" "rs34878020" "0" "" "" "g.11949854G>A" "" "likely benign" "" "0000647355" "1" "50" "1" "12010487" "12010487" "subst" "6.0929E-5" "03575" "PLOD1_000092" "g.12010487T>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs144702307}" "Germline" "" "rs144702307" "0" "" "" "g.11950430T>G" "" "VUS" "" "0000647356" "1" "50" "1" "12012748" "12012748" "subst" "0.000560438" "03575" "PLOD1_000093" "g.12012748G>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs188165334}" "Germline" "" "rs188165334" "0" "" "" "g.11952691G>T" "" "VUS" "" "0000647357" "1" "50" "1" "12024354" "12024354" "subst" "5.71788E-5" "03575" "PLOD1_000094" "g.12024354G>A" "28/2535 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "28 heterozygous, no homozygous; {DB:CLININrs199567720}" "Germline" "" "rs199567720" "0" "" "" "g.11964297G>A" "" "VUS" "" "0000647358" "1" "50" "1" "12025561" "12025561" "subst" "0.000820851" "03575" "PLOD1_000057" "g.12025561C>T" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; {DB:CLININrs149124387}" "Germline" "" "rs149124387" "0" "" "" "g.11965504C>T" "" "VUS" "" "0000653610" "0" "50" "1" "12008093" "12008093" "subst" "0.000182726" "01943" "PLOD1_000096" "g.12008093G>A" "" "" "" "PLOD1(NM_000302.3):c.137G>A (p.R46H), PLOD1(NM_000302.4):c.137G>A (p.R46H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11948036G>A" "" "VUS" "" "0000653611" "0" "30" "1" "12009520" "12009520" "subst" "0" "02329" "PLOD1_000097" "g.12009520A>G" "" "" "" "PLOD1(NM_000302.4):c.169-310A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11949463A>G" "" "likely benign" "" "0000653612" "0" "30" "1" "12010414" "12010414" "subst" "0.000155387" "02326" "PLOD1_000167" "g.12010414C>T" "" "" "" "PLOD1(NM_000302.3):c.303C>T (p.S101=), PLOD1(NM_000302.4):c.303C>T (p.S101=), PLOD1(NM_001316320.1):c.444C>T (p.S148=), PLOD1(NM_001316320.2):c.444..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11950357C>T" "" "likely benign" "" "0000653613" "0" "30" "1" "12020834" "12020834" "subst" "1.22458E-5" "02326" "PLOD1_000142" "g.12020834G>A" "" "" "" "PLOD1(NM_000302.3):c.1097+10G>A, PLOD1(NM_001316320.2):c.1238+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11960777G>A" "" "likely benign" "" "0000653614" "0" "50" "1" "12025582" "12025582" "subst" "1.21883E-5" "01804" "PLOD1_000153" "g.12025582C>T" "" "" "" "PLOD1(NM_000302.3):c.1516C>T (p.L506F, p.(Leu506Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11965525C>T" "" "VUS" "" "0000653615" "0" "30" "1" "12026478" "12026478" "subst" "0" "02329" "PLOD1_000098" "g.12026478G>A" "" "" "" "PLOD1(NM_000302.4):c.1650+105G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11966421G>A" "" "likely benign" "" "0000653618" "0" "30" "1" "12034425" "12034425" "subst" "0" "02329" "PLOD1_000099" "g.12034425A>C" "" "" "" "PLOD1(NM_000302.4):c.2029-285A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11974368A>C" "" "likely benign" "" "0000668962" "3" "30" "1" "12009911" "12009911" "subst" "0.0136579" "03575" "PLOD1_000121" "g.12009911G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs34878020}" "Germline" "" "rs34878020" "0" "" "" "g.11949854G>A" "" "likely benign" "" "0000673823" "0" "70" "1" "12024834" "12024834" "del" "0" "03672" "PLOD1_000101" "g.12024834del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.11964777del" "" "pathogenic (recessive)" "" "0000673824" "0" "70" "1" "11994838" "11994838" "subst" "0" "03672" "PLOD1_000100" "g.11994838T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.11934781T>C" "" "likely pathogenic (recessive)" "" "0000673942" "2" "90" "1" "12024834" "12024834" "del" "0" "03695" "PLOD1_000101" "g.12024834del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000673943" "2" "50" "1" "11994838" "11994838" "subst" "0" "03695" "PLOD1_000100" "g.11994838T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000675432" "0" "30" "1" "12004675" "12004675" "subst" "0" "02326" "PLOD1_000165" "g.12004675C>T" "" "" "" "PLOD1(NM_001316320.1):c.173C>T (p.S58F), PLOD1(NM_001316320.2):c.173C>T (p.S58F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675433" "0" "50" "1" "12016982" "12016982" "subst" "4.87274E-5" "01943" "PLOD1_000102" "g.12016982G>A" "" "" "" "PLOD1(NM_001316320.1):c.793G>A (p.V265M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675434" "0" "30" "1" "12017332" "12017332" "subst" "0" "02329" "PLOD1_000103" "g.12017332C>T" "" "" "" "PLOD1(NM_000302.4):c.741+261C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675435" "0" "30" "1" "12025539" "12025539" "subst" "0.00017079" "01943" "PLOD1_000104" "g.12025539T>C" "" "" "" "PLOD1(NM_001316320.1):c.1614T>C (p.D538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687829" "0" "30" "1" "12010042" "12010042" "subst" "0" "02329" "PLOD1_000105" "g.12010042C>T" "" "" "" "PLOD1(NM_000302.4):c.302+79C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000701892" "11" "99" "1" "12008101" "12008101" "subst" "0" "00085" "PLOD1_000020" "g.12008101C>T" "" "{PMID:Yeowell et al., 2000:10686424}" "-BspCNI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701893" "21" "99" "1" "12008109" "12008110" "ins" "0" "00085" "PLOD1_000011" "g.12008109_12008110insC" "" "{PMID:Heikkinen et al., 1999:10502784}" "+Mmel" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701894" "3" "99" "1" "12009905" "12009905" "subst" "0" "00085" "PLOD1_000052" "g.12009905A>T" "" "{PMID:Micha et al., 2019:31668813}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701895" "3" "99" "1" "12009905" "12009905" "subst" "0" "00085" "PLOD1_000052" "g.12009905A>T" "" "{PMID:van Dijk et al., 2017:28757364}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701896" "3" "99" "1" "12009915" "12009915" "subst" "0" "00085" "PLOD1_000035" "g.12009915T>C" "" "{PMID:Rohrbach et al., 2011:21699693}" "+MspI, -BpmI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701897" "0" "11" "1" "12009955" "12009955" "subst" "0.331149" "00085" "PLOD1_000028" "g.12009955C>T" "" "{PMID:Huang et al., 2009:19442614}" "+HpyCH4V" "" "" "Unknown" "" "rs7529452" "0" "" "" "" "" "likely benign" "" "0000701898" "0" "11" "1" "12009956" "12009956" "subst" "0.179998" "00085" "PLOD1_000022" "g.12009956G>A" "" "{PMID:Tasker et al., 2006:16758144}" "-" "" "" "Unknown" "" "rs7551175" "0" "" "" "" "" "likely benign" "" "0000701899" "0" "71" "1" "12009956" "12009956" "subst" "0.179998" "00085" "PLOD1_000022" "g.12009956G>A" "" "{PMID:Tasker et al., 2005:16758144}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000701900" "0" "11" "1" "12010469" "12010469" "subst" "0.0858955" "00085" "PLOD1_000030" "g.12010469G>T" "" "" "+Hpy188I" "" "" "Unknown" "" "rs2273285" "0" "" "" "" "" "likely benign" "" "0000701901" "1" "99" "1" "12010537" "12010537" "subst" "4.06151E-6" "00085" "PLOD1_000017" "g.12010537T>A" "" "{PMID:Yeowell et al., 2000:10874315}" "+AgeI, -BciVI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701902" "3" "99" "1" "12010578" "12010578" "subst" "0" "00085" "PLOD1_000036" "g.12010578G>A" "" "{PMID:Rohrbach et al., 2011:21699693}" "-MnlI, -HphI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701903" "0" "77" "1" "12012678" "12012678" "subst" "0" "00085" "PLOD1_000050" "g.12012678A>G" "" "{PMID:Micha et al., 2019:31668813}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000701904" "11" "99" "1" "12012678" "12012678" "del" "4.0618E-6" "00085" "PLOD1_000010" "g.12012678del" "" "{PMID:Heikkinen et al., 1999:10502784}" "+BslI, -Acul" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701905" "21" "99" "1" "12012793" "12012793" "subst" "0" "00085" "PLOD1_000024" "g.12012793G>A" "" "{PMID:Yeowell and Walker, 1997:9220536}" "-" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701906" "3" "99" "1" "12014929" "12014929" "subst" "0" "00085" "PLOD1_000043" "g.12014929C>T" "" "{PMID:Abdalla et al., 2015:25277362}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701907" "0" "11" "1" "12016957" "12016957" "subst" "0.0680615" "00085" "PLOD1_000025" "g.12016957T>G" "" "{PMID:Spotila et al., 2003:14565595}" "-HpyCH4III" "" "" "Unknown" "" "rs41307745" "0" "" "" "" "" "likely benign" "" "0000701908" "0" "11" "1" "12017071" "12017071" "subst" "0" "00085" "PLOD1_000053" "g.12017071G>A" "" "{PMID:van Dijk et al., 2017:28757364}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000701909" "11" "99" "1" "12018655" "12018663" "del" "0" "00085" "PLOD1_000048" "g.12018655_12018663del" "" "{PMID:Shin et al., 2020:32174067}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701910" "3" "99" "1" "12018684" "12018684" "subst" "1.21879E-5" "00085" "PLOD1_000001" "g.12018684C>T" "" "{PMID:Hyland et al., 1992:1345174}" "+AflIII" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701911" "3" "99" "1" "12018684" "12018684" "subst" "1.21879E-5" "00085" "PLOD1_000001" "g.12018684C>T" "" "{PMID:Giunta et al., 2005b:15979919}" "+AflIII" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701912" "3" "99" "1" "12018684" "12018684" "subst" "1.21879E-5" "00085" "PLOD1_000001" "g.12018684C>T" "" "{PMID:Giunta et al., 2005a:15666309}" "+AflIII" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701913" "3" "99" "1" "12018684" "12018684" "subst" "1.21879E-5" "00085" "PLOD1_000001" "g.12018684C>T" "" "{PMID:Giunta et al., 2005a:15666309}" "+AflIII" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701914" "3" "99" "1" "12018684" "12018684" "subst" "1.21879E-5" "00085" "PLOD1_000001" "g.12018684C>T" "" "{PMID:Giunta et al., 2005a:15666309}" "+AflIII" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701915" "3" "99" "1" "12018684" "12018684" "subst" "1.21879E-5" "00085" "PLOD1_000001" "g.12018684C>T" "" "{PMID:Giunta et al., 2005a:15666309}" "+AflIII" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701916" "3" "99" "1" "12018684" "12018684" "subst" "1.21879E-5" "00085" "PLOD1_000001" "g.12018684C>T" "" "{PMID:Giunta et al., 2005a:15666309}" "+AflIII" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701917" "3" "99" "1" "12018706" "12018707" "ins" "0" "00085" "PLOD1_000018" "g.12018706_12018707insTT" "" "{PMID:Pajunen at al., 1998:9502428}" "-BbrPI, -PmlI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701918" "3" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Giunta et al., 2005b:15979919}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701919" "3" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Giunta et al., 2005b:15979919}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701920" "3" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Giunta et al., 2005b:15979919}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701921" "3" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Giunta et al., 2005b:15979919}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701922" "11" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Giunta et al., 2005b:15979919}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701923" "3" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Heikkinen et al., 1997:8981946}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701924" "3" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Heikkinen et al., 1997:8981946}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701925" "3" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Heikkinen et al., 1997:8981946}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701926" "3" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Heikkinen et al., 1997:8981946}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701927" "3" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Brinckmann et al., 1998:9617436}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701928" "3" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Brinckmann et al., 1998:9617436}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701929" "3" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Yeowell et al., 2005:16172044}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701930" "21" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Yeowell et al., 2000:10874315}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701931" "1" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Yeowell et al., 2000:10874315}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701932" "3" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Pousi et al., 1994:7977351}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701933" "1" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Heikkinen et al., 1997:8981946}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701934" "3" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Hautala et al., 1993:8449506}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701935" "1" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Heikkinen et al., 1997:8981946}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701936" "3" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Rohrbach et al., 2011:21699693}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701937" "3" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Rohrbach et al., 2011:21699693}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701938" "3" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Abdalla et al., 2015:25277362}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701939" "3" "99" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:Abdalla et al., 2015:25277362}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701940" "0" "77" "1" "12019679" "12027148" "dup" "0" "00085" "PLOD1_000003" "g.12019679_12027148dup" "" "{PMID:van Dijk et al., 2017:28757364}" "+Eael, +SexAI" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000701941" "3" "77" "1" "12020687" "12020687" "subst" "0.00213341" "00085" "PLOD1_000054" "g.12020687C>T" "" "{PMID:Sakai et al., 2011:22001912}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000701942" "3" "99" "1" "12020706" "12020706" "subst" "0" "00085" "PLOD1_000015" "g.12020706C>T" "" "{PMID:Yeowell et al., 2000:10874315}" "-Fnu4HI, -ApeKI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701943" "2" "99" "1" "12020706" "12020706" "subst" "0" "00085" "PLOD1_000015" "g.12020706C>T" "" "{PMID:Yeowell et al., 2000:10874315}" "-Fnu4HI, -ApeKI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701944" "3" "99" "1" "12020760" "12020760" "subst" "0" "00085" "PLOD1_000037" "g.12020760C>T" "" "{PMID:Rohrbach et al., 2011:21699693}" "+ScaI, -BsrI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701945" "2" "99" "1" "12020822" "12020822" "subst" "0" "00085" "PLOD1_000021" "g.12020822C>T" "" "{PMID:Yeowell et al., 2000:10686424}" "-BstUI, -HinP1I" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701946" "3" "99" "1" "12020822" "12020822" "subst" "0" "00085" "PLOD1_000021" "g.12020822C>T" "" "{PMID:Rohrbach et al., 2011:21699693}" "-BstUI, -HinP1I" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701947" "0" "77" "1" "0" "0" "" "0" "03716" "PLOD1_000045" "g.?" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000701948" "0" "11" "1" "12023581" "12023581" "subst" "0" "00085" "PLOD1_000055" "g.12023581C>T" "" "{PMID:Sakai et al., 2011:22001912}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000701949" "0" "77" "1" "12023589" "12024357" "del" "0" "00085" "PLOD1_000051" "g.12023589_12024357del" "" "{PMID:Micha et al., 2019:31668813}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000701950" "21" "99" "1" "12023594" "12023608" "del" "0" "00085" "PLOD1_000019" "g.12023594_12023608del" "" "{PMID:Yeowell et al., 2000:10686424}" "+Mwol, -NaeI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701951" "1" "99" "1" "12023594" "12023608" "del" "0" "00085" "PLOD1_000019" "g.12023594_12023608del" "" "{PMID:Yeowell et al., 2000:10686424}" "+Mwol, -NaeI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701952" "3" "99" "1" "12023611" "12029174" "del" "0" "00085" "PLOD1_000041" "g.12023611_12029174del" "" "{PMID:Giunta et al., 2009:19320025}" "+BstUI, -EaeI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701953" "0" "11" "1" "12024235" "12024235" "subst" "0.362399" "00085" "PLOD1_000026" "g.12024235C>T" "" "{PMID:Spotila et al., 2003:14565595}" "-HpyCH4IV" "" "" "Unknown" "" "rs1130529" "0" "" "" "" "" "likely benign" "" "0000701954" "3" "99" "1" "12024292" "12024292" "dup" "0" "00085" "PLOD1_000038" "g.12024292dup" "" "{PMID:Rohrbach et al., 2011:21699693}" "-MwoI, -BanII" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701955" "3" "99" "1" "12024331" "12024331" "subst" "0" "00085" "PLOD1_000002" "g.12024331C>G" "" "{PMID:Kariminejad et al., 2010.:23056730} Iran J Pediatr 20(3):358-362" "+BfaI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701956" "0" "99" "1" "12024331" "12024331" "subst" "0" "00085" "PLOD1_000002" "g.12024331C>G" "" "{PMID:Giunta et al., 2009:19320025}" "+BfaI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701957" "3" "99" "1" "12024708" "12024708" "subst" "0" "00085" "PLOD1_000013" "g.12024708T>G" "" "{PMID:Walker et al., 2005:15854030}" "-" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701958" "3" "99" "1" "12024708" "12024708" "subst" "0" "00085" "PLOD1_000013" "g.12024708T>G" "" "{PMID:Yiş et al., 2008:18155911}" "-" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701959" "21" "99" "1" "12024734" "12024734" "del" "0" "00085" "PLOD1_000007" "g.12024734del" "" "{PMID:Giunta et al., 2005b:15979919}" "-" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701960" "3" "99" "1" "12024734" "12024734" "del" "0" "00085" "PLOD1_000007" "g.12024734del" "" "{PMID:Giunta et al., 2005b:15979919}" "-" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701961" "3" "99" "1" "12024734" "12024734" "del" "0" "00085" "PLOD1_000007" "g.12024734del" "" "{PMID:Salvoura et al., 2006:17100196}" "-" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701962" "3" "99" "1" "12024734" "12024734" "del" "0" "00085" "PLOD1_000007" "g.12024734del" "" "{PMID:Gok et al., 2012:22981642}" "-" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701963" "0" "77" "1" "12024760" "12024760" "subst" "8.1275E-5" "00085" "PLOD1_000056" "g.12024760G>A" "" "{PMID:Sakai et al., 2011:22001912}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000701964" "0" "77" "1" "0" "0" "" "0" "03716" "PLOD1_000046" "g.?" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000701965" "0" "71" "1" "12025529" "12025529" "subst" "0.000268697" "00085" "PLOD1_000060" "g.12025529C>T" "" "{PMID:Salinas-Torres et al., 2020:32163230}" "" "" "" "Unknown" "" "rs201661871" "0" "" "" "" "" "VUS" "" "0000701966" "3" "99" "1" "12025536" "12025536" "subst" "0" "00085" "PLOD1_000040" "g.12025536G>A" "" "{PMID:Rohrbach et al., 2011:21699693}" "-BssKI, -StyD4I" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701967" "0" "77" "1" "12025561" "12025561" "subst" "0.000820851" "00085" "PLOD1_000057" "g.12025561C>T" "" "{PMID:Sakai et al., 2011:22001912}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000701968" "21" "99" "1" "12025599" "12025599" "subst" "1.21897E-5" "00085" "PLOD1_000012" "g.12025599C>G" "" "{PMID:Pousi et al., 2000:10729709}" "+NheI, +Bfal" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701969" "3" "99" "1" "12025599" "12025599" "subst" "1.21897E-5" "00085" "PLOD1_000012" "g.12025599C>G" "" "{PMID:Walker et al., 1999:10329027}" "+NheI, +Bfal" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701970" "3" "99" "1" "12025599" "12025599" "subst" "1.21897E-5" "00085" "PLOD1_000012" "g.12025599C>G" "" "{PMID:Yeowell et al., 2000:10874315}" "+NheI, +Bfal" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701971" "2" "99" "1" "12025599" "12025599" "subst" "1.21897E-5" "00085" "PLOD1_000012" "g.12025599C>G" "" "{PMID:Yeowell et al., 2000:10874315}" "+NheI, +Bfal" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701972" "11" "99" "1" "12025599" "12025599" "subst" "1.21897E-5" "00085" "PLOD1_000012" "g.12025599C>G" "" "{PMID:Yeowell and Walker, 1997:9220536}" "+NheI, +Bfal" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701973" "21" "99" "1" "12025599" "12025599" "subst" "1.21897E-5" "02120" "PLOD1_000012" "g.12025599C>G" "" "" "+NheI, +Bfal" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701974" "11" "99" "1" "12025629" "12025629" "subst" "0" "02120" "PLOD1_000047" "g.12025629G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701975" "21" "99" "1" "12026317" "12026319" "del" "0" "00085" "PLOD1_000008" "g.12026317_12026319del" "" "{PMID:Ha et al., 1994:8163671}" "+MboII , -HpyAV" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701976" "0" "11" "1" "12026355" "12026355" "subst" "0.0612798" "00085" "PLOD1_000027" "g.12026355A>C" "" "{PMID:Spotila et al., 2003:14565595}" "+EaeI,+BssKI" "" "" "Unknown" "" "rs2230898" "0" "" "" "" "" "likely benign" "" "0000701977" "3" "99" "1" "12027042" "12027042" "subst" "3.24929E-5" "00085" "PLOD1_000039" "g.12027042A>G" "" "{PMID:Rohrbach et al., 2011:21699693}" "+BssKI, -BseYI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701978" "3" "99" "1" "12027042" "12027042" "subst" "3.24929E-5" "00085" "PLOD1_000039" "g.12027042A>G" "" "{PMID:Micha et al., 2019:31668813}" "+BssKI, -BseYI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701979" "11" "99" "1" "12027042" "12027042" "del" "0" "00085" "PLOD1_000032" "g.12027042del" "" "{PMID:Pousi et al.,1998:9450904}" "+MwoI, -BseYI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701980" "3" "99" "1" "12027070" "12027070" "dup" "0" "00085" "PLOD1_000014" "g.12027070dup" "" "{PMID:Yeowell et al., 2000:10874315}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701981" "21" "99" "1" "12030727" "12030873" "del" "0" "00085" "PLOD1_000033" "g.12030727_12030873del" "" "{PMID:Pousi et al.,1998:9450904}" "+EaeI, +Fnu4HI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701982" "3" "99" "1" "12030727" "12030873" "del" "0" "00085" "PLOD1_000033" "g.12030727_12030873del" "" "{PMID:Giunta et al., 2005a:15666309}" "+EaeI, +Fnu4HI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701983" "2" "99" "1" "12030731" "12030732" "" "0" "00085" "PLOD1_000023" "g.[12030731_12030732delinsGA;12030746_12030759del;12030761C>G]" "" "{PMID:Heikkinen et al., 1997:8981946}" "+Hgal, -Bsll" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701984" "21" "99" "1" "12030807" "12030807" "subst" "0" "00085" "PLOD1_000006" "g.12030807G>C" "" "{PMID:Brinckmann et al., 1998:9617436}" "-Mwol" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701985" "3" "99" "1" "12030834" "12030835" "dup" "0" "00085" "PLOD1_000042" "g.12030834_12030835dup" "" "{PMID:Tosun et al., 2014:25266621}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701986" "0" "77" "1" "12032953" "12032953" "subst" "0.000548188" "00085" "PLOD1_000059" "g.12032953G>A" "" "{PMID:Kloss et al., 2017:28384719}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000701987" "3" "99" "1" "12033025" "12033025" "subst" "4.46701E-5" "00085" "PLOD1_000004" "g.12033025G>A" "" "{PMID:Giunta et al., 2005b:15979919}" "+HphI , -BtgZI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701988" "11" "99" "1" "12033034" "12033034" "subst" "8.12282E-6" "00085" "PLOD1_000016" "g.12033034C>T" "" "{PMID:Yeowell et al., 2000:10874315}" "+DdeI, -Bsll" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701989" "3" "99" "1" "12033051" "12033051" "subst" "0" "00085" "PLOD1_000044" "g.12033051C>G" "" "{PMID:Abdalla et al., 2015:25277362}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701990" "11" "99" "1" "12034713" "12034713" "subst" "2.86341E-5" "00085" "PLOD1_000009" "g.12034713G>A" "" "{PMID:Ha et al., 1994:8163671}" "+AlwNI, -Faul" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701991" "3" "99" "1" "12034713" "12034713" "subst" "2.86341E-5" "00085" "PLOD1_000009" "g.12034713G>A" "" "{PMID:Rohrbach et al., 2011:21699693}" "+AlwNI, -Faul" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701992" "3" "99" "1" "12034798" "12034798" "subst" "0" "00085" "PLOD1_000005" "g.12034798A>G" "" "{PMID:Giunta et al., 2005b:15979919}" "+BstUI, +MluI" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000701993" "21" "77" "1" "12034851" "12034853" "del" "0" "00085" "PLOD1_000049" "g.12034851_12034853del" "" "{PMID:Shin et al., 2020:32174067}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000716723" "0" "30" "1" "12004650" "12004650" "subst" "0" "01943" "PLOD1_000171" "g.12004650C>T" "" "" "" "PLOD1(NM_001316320.1):c.148C>T (p.L50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716724" "0" "30" "1" "12008093" "12008093" "subst" "0.000182726" "02326" "PLOD1_000096" "g.12008093G>A" "" "" "" "PLOD1(NM_000302.3):c.137G>A (p.R46H), PLOD1(NM_000302.4):c.137G>A (p.R46H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798709" "0" "10" "1" "12010469" "12010469" "subst" "0.0858955" "02327" "PLOD1_000030" "g.12010469G>T" "" "" "" "PLOD1(NM_000302.3):c.358_359delGCinsTC (p.A120S), PLOD1(NM_000302.4):c.358G>T (p.A120S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000798710" "0" "30" "1" "12023684" "12023684" "subst" "9.54818E-6" "01804" "PLOD1_000172" "g.12023684A>C" "" "" "" "PLOD1(NM_000302.3):c.1193A>C (p.(Gln398Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798711" "0" "30" "1" "12024370" "12024370" "subst" "0.000108456" "02329" "PLOD1_000173" "g.12024370A>G" "" "" "" "PLOD1(NM_000302.4):c.1328+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798715" "0" "30" "1" "12030714" "12030714" "subst" "0.000455855" "02326" "PLOD1_000075" "g.12030714C>T" "" "" "" "PLOD1(NM_000302.4):c.1756-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798716" "0" "50" "1" "12030776" "12030776" "subst" "0" "02327" "PLOD1_000174" "g.12030776A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000821006" "0" "90" "1" "9200001" "12700000" "del" "0" "00000" "MTHFR_000084" "g.9200001_12700000del" "" "{PMID:Ruberto 2020:32507954}" "" "CGH array deletion in Cr1p36.22 involving NMNAT1 gene," "am apparent homozygous NMNAT1 mutation was found, probably on the other allele" "Unknown" "?" "" "0" "" "" "g.9100001_12500000del" "" "likely pathogenic" "" "0000848259" "0" "50" "1" "12010523" "12010523" "subst" "4.06134E-6" "02325" "PLOD1_000176" "g.12010523C>G" "" "" "" "PLOD1(NM_000302.4):c.412C>G (p.L138V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848261" "0" "70" "1" "12034780" "12034780" "subst" "8.12579E-6" "02325" "PLOD1_000178" "g.12034780A>G" "" "" "" "PLOD1(NM_000302.4):c.2099A>G (p.H700R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000856915" "0" "30" "1" "12008130" "12008130" "subst" "8.12123E-6" "02329" "PLOD1_000175" "g.12008130G>C" "" "" "" "PLOD1(NM_000302.4):c.168+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856916" "0" "30" "1" "12012748" "12012748" "subst" "0.000560438" "01804" "PLOD1_000093" "g.12012748G>T" "" "" "" "PLOD1(NM_000302.3):c.535G>T (p.(Asp179Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856917" "0" "30" "1" "12017959" "12017959" "subst" "0.000795913" "01804" "PLOD1_000064" "g.12017959A>G" "" "" "" "PLOD1(NM_000302.3):c.802A>G (p.(Thr268Ala)), PLOD1(NM_000302.4):c.802A>G (p.T268A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856918" "0" "30" "1" "12023631" "12023631" "subst" "0.000161685" "01943" "PLOD1_000177" "g.12023631C>T" "" "" "" "PLOD1(NM_001316320.1):c.1281C>T (p.S427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856919" "0" "30" "1" "12023632" "12023632" "subst" "0.00159095" "01804" "PLOD1_000143" "g.12023632G>A" "" "" "" "PLOD1(NM_000302.3):c.1141G>A (p.(Val381Met)), PLOD1(NM_000302.4):c.1141G>A (p.V381M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856920" "0" "30" "1" "12023643" "12023643" "subst" "4.40121E-5" "01943" "PLOD1_000067" "g.12023643C>T" "" "" "" "PLOD1(NM_000302.4):c.1152C>T (p.D384=), PLOD1(NM_001316320.1):c.1293C>T (p.D431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856921" "0" "30" "1" "12034805" "12034805" "subst" "0.0196407" "01804" "PLOD1_000162" "g.12034805T>C" "" "" "" "PLOD1(NM_000302.3):c.2124T>C (p.(=)), PLOD1(NM_000302.4):c.2124T>C (p.H708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000872434" "1" "90" "1" "12032932" "12032932" "subst" "4.06078E-6" "00006" "PLOD1_000180" "g.12032932C>T" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "Germline" "" "" "0" "" "" "g.11972875C>T" "" "pathogenic (recessive)" "" "0000872435" "3" "90" "1" "12034713" "12034713" "subst" "2.86341E-5" "00006" "PLOD1_000009" "g.12034713G>A" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "Germline" "" "" "0" "" "" "g.11974656G>A" "" "pathogenic (recessive)" "" "0000872437" "2" "90" "1" "12024284" "12024284" "subst" "1.21872E-5" "00006" "PLOD1_000179" "g.12024284T>C" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "Germline" "" "" "0" "" "" "g.11964227T>C" "" "pathogenic (recessive)" "" "0000874098" "0" "90" "1" "12026359" "12026369" "del" "0" "01741" "PLOD1_000181" "g.12026359_12026369del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.11966302_11966312del" "" "pathogenic" "" "0000882722" "0" "30" "1" "12033045" "12033045" "subst" "4.06147E-6" "02329" "PLOD1_000182" "g.12033045G>C" "" "" "" "PLOD1(NM_000302.4):c.2019G>C (p.V673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922927" "0" "90" "1" "12024286" "12024286" "subst" "0" "02329" "PLOD1_000183" "g.12024286G>A" "" "" "" "PLOD1(NM_000302.4):c.1257G>A (p.W419*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000922928" "0" "10" "1" "12026355" "12026355" "subst" "0.0612798" "02327" "PLOD1_000027" "g.12026355A>C" "" "" "" "PLOD1(NM_000302.4):c.1632A>C (p.A544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927455" "11" "77" "1" "12030714" "12030714" "subst" "0" "03524" "PLOD1_000184" "g.12030714C>A" "" "" "" "" "Fibroblasts RNA study : Frameshift with premature stop codon" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000927456" "21" "79" "1" "12017971" "12017975" "del" "0" "03524" "PLOD1_000185" "g.12017971_12017975del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000927457" "3" "55" "1" "12034795" "12034795" "subst" "4.0623E-6" "03524" "PLOD1_000186" "g.12034795C>T" "" "" "" "" "2023/04/18 : GnomAD 1/251306, CADD 26.9, MPA 9" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000927991" "0" "30" "1" "12010420" "12010420" "subst" "1.63367E-5" "02329" "PLOD1_000187" "g.12010420C>T" "" "" "" "PLOD1(NM_000302.4):c.309C>T (p.D103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927992" "0" "30" "1" "12018202" "12018202" "subst" "0" "02329" "PLOD1_000188" "g.12018202C>T" "" "" "" "PLOD1(NM_000302.4):c.843+202C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946943" "0" "90" "1" "12024286" "12024286" "subst" "0" "02327" "PLOD1_000183" "g.12024286G>A" "" "" "" "PLOD1(NM_000302.4):c.1257G>A (p.W419*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000946944" "0" "30" "1" "12025710" "12025710" "subst" "0" "02329" "PLOD1_000189" "g.12025710G>A" "" "" "" "PLOD1(NM_000302.4):c.1584+60G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946945" "0" "50" "1" "12027060" "12027060" "subst" "7.31006E-5" "02327" "PLOD1_000190" "g.12027060A>G" "" "" "" "PLOD1(NM_000302.4):c.1667A>G (p.(Tyr556Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960064" "3" "90" "1" "12018684" "12018684" "subst" "1.21879E-5" "00006" "PLOD1_000001" "g.12018684C>T" "" "{PMID:Hyland 1992:1345174}" "AflIII+" "" "" "Germline" "yes" "" "0" "" "" "g.11958627C>T" "" "pathogenic (recessive)" "" "0000960065" "3" "90" "1" "12019830" "12028725" "dup" "0" "00006" "PLOD1_000191" "g.12019830_12028725dup" "" "{PMID:Pousi 1994:7977351}" "" "" "" "Germline" "" "" "0" "" "" "g.11959773_11968668dup" "" "pathogenic (recessive)" "" "0000960408" "0" "30" "1" "12008274" "12008274" "subst" "0" "02329" "PLOD1_000192" "g.12008274C>T" "" "" "" "PLOD1(NM_000302.4):c.168+150C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960409" "0" "50" "1" "12010414" "12010414" "subst" "0.000155387" "01943" "PLOD1_000167" "g.12010414C>T" "" "" "" "PLOD1(NM_000302.3):c.303C>T (p.S101=), PLOD1(NM_000302.4):c.303C>T (p.S101=), PLOD1(NM_001316320.1):c.444C>T (p.S148=), PLOD1(NM_001316320.2):c.444..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960410" "0" "30" "1" "12012452" "12012452" "subst" "0" "02329" "PLOD1_000193" "g.12012452G>A" "" "" "" "PLOD1(NM_000302.4):c.467-228G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960411" "0" "30" "1" "12018389" "12018389" "subst" "0" "02329" "PLOD1_000194" "g.12018389G>T" "" "" "" "PLOD1(NM_000302.4):c.844-184G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960412" "0" "30" "1" "12027243" "12027243" "subst" "0" "02329" "PLOD1_000195" "g.12027243A>G" "" "" "" "PLOD1(NM_000302.4):c.1755+95A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973219" "0" "30" "1" "12008130" "12008130" "subst" "8.12123E-6" "01804" "PLOD1_000175" "g.12008130G>C" "" "" "" "PLOD1(NM_000302.4):c.168+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973220" "0" "50" "1" "12010487" "12010487" "subst" "6.0929E-5" "01804" "PLOD1_000092" "g.12010487T>G" "" "" "" "PLOD1(NM_000302.4):c.376T>G (p.(Phe126Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973221" "0" "50" "1" "12017056" "12017056" "subst" "6.09241E-5" "01804" "PLOD1_000196" "g.12017056C>T" "" "" "" "PLOD1(NM_000302.4):c.726C>T (p.(Gly242=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973222" "0" "30" "1" "12024895" "12024895" "subst" "0" "02329" "PLOD1_000197" "g.12024895G>A" "" "" "" "PLOD1(NM_000302.4):c.1470+53G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973223" "0" "50" "1" "12027060" "12027060" "subst" "7.31006E-5" "01804" "PLOD1_000190" "g.12027060A>G" "" "" "" "PLOD1(NM_000302.4):c.1667A>G (p.(Tyr556Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973224" "0" "50" "1" "12027111" "12027111" "subst" "0" "01804" "PLOD1_000198" "g.12027111T>C" "" "" "" "PLOD1(NM_000302.4):c.1718T>C (p.(Met573Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973227" "0" "30" "1" "12030858" "12030858" "subst" "1.22102E-5" "02329" "PLOD1_000199" "g.12030858C>T" "" "" "" "PLOD1(NM_000302.4):c.1887C>T (p.P629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973228" "0" "70" "1" "12034765" "12034765" "dup" "0" "01804" "PLOD1_000200" "g.12034765dup" "" "" "" "PLOD1(NM_000302.4):c.2084dup (p.(Trp696LeufsTer14))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000990165" "0" "50" "1" "12008080" "12008080" "subst" "9.33934E-5" "01804" "PLOD1_000201" "g.12008080C>T" "" "" "" "PLOD1(NM_000302.3):c.124C>T (p.(Arg42Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990166" "0" "30" "1" "12017933" "12017933" "subst" "0.000186787" "01804" "PLOD1_000202" "g.12017933G>A" "" "" "" "PLOD1(NM_000302.3):c.776G>A (p.(Arg259His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990167" "0" "30" "1" "12025295" "12025295" "subst" "0" "02329" "PLOD1_000203" "g.12025295G>A" "" "" "" "PLOD1(NM_000302.4):c.1471-242G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001022130" "0" "50" "1" "12026373" "12026373" "subst" "6.49818E-5" "04796" "PLOD1_000155" "g.12026373G>A" "" "" "" "" "effect on RNA exon skipping" "Germline/De novo (untested)" "" "" "0" "" "" "g.11966316G>A" "" "VUS" "" "0001024018" "0" "30" "1" "12012768" "12012768" "subst" "0.00280262" "02329" "PLOD1_000169" "g.12012768G>T" "" "" "" "PLOD1(NM_000302.3):c.555G>T (p.(Lys185Asn)), PLOD1(NM_000302.4):c.555G>T (p.K185N), PLOD1(NM_001316320.1):c.696G>T (p.K232N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024019" "0" "30" "1" "12020687" "12020687" "subst" "0.00213341" "02329" "PLOD1_000054" "g.12020687C>T" "" "" "" "PLOD1(NM_000302.4):c.976-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031111" "0" "50" "1" "11994828" "11994838" "del" "0" "01804" "PLOD1_000204" "g.11994828_11994838del" "" "" "" "PLOD1(NM_000302.4):c.-9_2del (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031112" "0" "50" "1" "12008084" "12008084" "subst" "2.43635E-5" "01804" "PLOD1_000115" "g.12008084G>A" "" "" "" "PLOD1(NM_000302.3):c.128G>A (p.R43H), PLOD1(NM_000302.4):c.128G>A (p.(Arg43His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031113" "0" "50" "1" "12010406" "12010406" "subst" "0" "01804" "PLOD1_000205" "g.12010406G>A" "" "" "" "PLOD1(NM_000302.4):c.303-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031114" "0" "50" "1" "12020776" "12020776" "subst" "8.13306E-6" "01804" "PLOD1_000206" "g.12020776T>C" "" "" "" "PLOD1(NM_000302.4):c.1049T>C (p.(Val350Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031115" "0" "50" "1" "12024270" "12024270" "subst" "0" "01804" "PLOD1_000207" "g.12024270T>C" "" "" "" "PLOD1(NM_000302.4):c.1241T>C (p.(Leu414Pro))" "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 PLOD1 ## Count = 302 "{{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}}" "{{VariantOnTranscript/Variant/Type}}" "{{VariantOnTranscript/Consequence/Predicted}}" "0000245496" "00016372" "10" "7643" "0" "7643" "0" "c.*5459A>G" "r.(=)" "p.(=)" "" "" "" "0000250335" "00016372" "30" "509" "0" "509" "0" "c.509A>T" "r.(?)" "p.(Glu170Val)" "" "" "" "0000250404" "00016372" "30" "76" "264" "76" "264" "c.76+264A>G" "r.(=)" "p.(=)" "" "" "" "0000250508" "00016372" "90" "977" "0" "977" "0" "c.977del" "r.(?)" "p.(Glu326GlyfsTer22)" "" "" "" "0000250525" "00016372" "90" "1651" "-2" "1651" "-2" "c.1651-2A>G" "r.spl?" "p.?" "" "" "" "0000254616" "00016372" "30" "1427" "0" "1427" "0" "c.1427A>G" "r.(?)" "p.(Lys476Arg)" "" "" "" "0000255359" "00016372" "70" "244" "0" "244" "0" "c.244A>T" "r.(?)" "p.(Lys82Ter)" "" "" "" "0000256691" "00016372" "50" "467" "-2" "467" "-2" "c.467-2A>G" "r.spl?" "p.?" "" "" "" "0000279685" "00016372" "10" "7798" "0" "7798" "0" "c.*5614T>C" "r.(=)" "p.(=)" "" "" "" "0000298889" "00016372" "10" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Val381Met)" "" "" "" "0000298890" "00016372" "30" "1164" "0" "1164" "0" "c.1164C>T" "r.(?)" "p.(Thr388=)" "" "" "" "0000298891" "00016372" "10" "1206" "0" "1206" "0" "c.1206C>T" "r.(?)" "p.(Asn402=)" "" "" "" "0000298892" "00016372" "10" "1328" "17" "1328" "17" "c.1328+17T>G" "r.(=)" "p.(=)" "" "" "" "0000298893" "00016372" "10" "1329" "-20" "1329" "-20" "c.1329-20G>A" "r.(=)" "p.(=)" "" "" "" "0000298894" "00016372" "30" "135" "0" "135" "0" "c.135G>A" "r.(?)" "p.(Lys45=)" "" "" "" "0000298895" "00016372" "30" "1428" "0" "1428" "0" "c.1428G>A" "r.(?)" "p.(Lys476=)" "" "" "" "0000298896" "00016372" "10" "177" "0" "177" "0" "c.177C>T" "r.(?)" "p.(Gly59=)" "" "" "" "0000298897" "00016372" "90" "1902" "2" "1902" "2" "c.1902+2T>C" "r.spl?" "p.?" "" "" "" "0000298898" "00016372" "30" "2085" "0" "2085" "0" "c.2085C>G" "r.(?)" "p.(Gly695=)" "" "" "" "0000298899" "00016372" "10" "2124" "0" "2124" "0" "c.2124T>C" "r.(?)" "p.(His708=)" "" "" "" "0000298900" "00016372" "10" "2133" "0" "2133" "0" "c.2133C>G" "r.(?)" "p.(Leu711=)" "" "" "" "0000298901" "00016372" "30" "243" "0" "243" "0" "c.243G>A" "r.(?)" "p.(Leu81=)" "" "" "" "0000298902" "00016372" "10" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Ala84Thr)" "" "" "" "0000298903" "00016372" "10" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Phe98=)" "" "" "" "0000298904" "00016372" "10" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Ala99Thr)" "" "" "" "0000298905" "00016372" "30" "302" "15" "302" "15" "c.302+15G>A" "r.(=)" "p.(=)" "" "" "" "0000298906" "00016372" "30" "411" "0" "411" "0" "c.411G>A" "r.(?)" "p.(Arg137=)" "" "" "" "0000298907" "00016372" "10" "540" "0" "540" "0" "c.540G>A" "r.(?)" "p.(Gln180=)" "" "" "" "0000298908" "00016372" "30" "579" "17" "579" "17" "c.579+17G>A" "r.(=)" "p.(=)" "" "" "" "0000298909" "00016372" "10" "644" "-17" "644" "-17" "c.644-17T>G" "r.(=)" "p.(=)" "" "" "" "0000298910" "00016372" "10" "76" "17" "76" "17" "c.76+17C>T" "r.(=)" "p.(=)" "" "" "" "0000298911" "00016372" "30" "804" "0" "804" "0" "c.804C>T" "r.(?)" "p.(Thr268=)" "" "" "" "0000298912" "00016372" "30" "843" "17" "843" "17" "c.843+17G>C" "r.(=)" "p.(=)" "" "" "" "0000298913" "00016372" "30" "844" "-16" "844" "-16" "c.844-16G>A" "r.(=)" "p.(=)" "" "" "" "0000298914" "00016372" "30" "870" "0" "870" "0" "c.870C>T" "r.(?)" "p.(Val290=)" "" "" "" "0000298915" "00016372" "30" "975" "13" "975" "13" "c.975+13C>T" "r.(=)" "p.(=)" "" "" "" "0000305917" "00016372" "30" "1097" "10" "1097" "10" "c.1097+10G>A" "r.(=)" "p.(=)" "" "" "" "0000305918" "00016372" "50" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Glu37Lys)" "" "" "" "0000305919" "00016372" "30" "1164" "0" "1164" "0" "c.1164C>T" "r.(?)" "p.(Thr388=)" "" "" "" "0000305920" "00016372" "30" "1165" "0" "1165" "0" "c.1165G>A" "r.(?)" "p.(Glu389Lys)" "" "" "" "0000305921" "00016372" "50" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Cys)" "" "" "" "0000305922" "00016372" "30" "1428" "0" "1428" "0" "c.1428G>A" "r.(?)" "p.(Lys476=)" "" "" "" "0000305923" "00016372" "50" "1471" "-8" "1471" "-8" "c.1471-8C>T" "r.(=)" "p.(=)" "" "" "" "0000305924" "00016372" "50" "1471" "-9" "1471" "-9" "c.1471-9C>G" "r.(=)" "p.(=)" "" "" "" "0000305925" "00016372" "50" "1516" "0" "1516" "0" "c.1516C>T" "r.(?)" "p.(Leu506Phe)" "" "" "" "0000305926" "00016372" "50" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Asp519Asn)" "" "" "" "0000305927" "00016372" "50" "1650" "0" "1650" "0" "c.1650G>A" "r.(?)" "p.(Thr550=)" "" "" "" "0000305928" "00016372" "30" "1651" "-10" "1651" "-10" "c.1651-10C>T" "r.(=)" "p.(=)" "" "" "" "0000305929" "00016372" "50" "1789" "0" "1789" "0" "c.1789C>T" "r.(?)" "p.(Pro597Ser)" "" "" "" "0000305930" "00016372" "50" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Ile)" "" "" "" "0000305931" "00016372" "30" "243" "0" "243" "0" "c.243G>A" "r.(?)" "p.(Leu81=)" "" "" "" "0000305932" "00016372" "50" "128" "0" "128" "0" "c.128G>A" "r.(?)" "p.(Arg43His)" "" "" "" "0000305933" "00016372" "50" "567" "0" "572" "0" "c.567_572del" "r.(?)" "p.(Asp189_Pro190del)" "" "" "" "0000305934" "00016372" "30" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Glu170Lys)" "" "" "" "0000305935" "00016372" "30" "742" "-9" "742" "-9" "c.742-9C>G" "r.(=)" "p.(=)" "" "" "" "0000305936" "00016372" "30" "77" "-7" "77" "-7" "c.77-7T>C" "r.(=)" "p.(=)" "" "" "" "0000305937" "00016372" "30" "804" "0" "804" "0" "c.804C>T" "r.(?)" "p.(Thr268=)" "" "" "" "0000305938" "00016372" "50" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Val269Met)" "" "" "" "0000305939" "00016372" "50" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Pro286Ser)" "" "" "" "0000339322" "00016372" "10" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Phe98=)" "" "" "" "0000339328" "00016372" "10" "1206" "0" "1206" "0" "c.1206C>T" "r.(?)" "p.(Asn402=)" "" "" "" "0000341650" "00016372" "10" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Ala99Thr)" "" "" "" "0000350859" "00016372" "10" "644" "-17" "644" "-17" "c.644-17T>G" "r.(=)" "p.(=)" "" "" "" "0000502686" "00016372" "30" "77" "-3473" "77" "-3473" "c.77-3473C>T" "r.(=)" "p.(=)" "" "" "" "0000502687" "00016372" "30" "77" "-3358" "77" "-3358" "c.77-3358C>T" "r.(=)" "p.(=)" "" "" "" "0000502688" "00016372" "30" "77" "-7" "77" "-7" "c.77-7T>C" "r.(=)" "p.(=)" "" "" "" "0000502689" "00016372" "30" "77" "-7" "77" "-7" "c.77-7T>C" "r.(=)" "p.(=)" "" "" "" "0000502690" "00016372" "50" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Glu37Lys)" "" "" "" "0000502691" "00016372" "30" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Ala84Thr)" "" "" "" "0000502692" "00016372" "30" "276" "0" "276" "0" "c.276G>A" "r.(?)" "p.(Glu92=)" "" "" "" "0000502693" "00016372" "30" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(Ser101=)" "" "" "" "0000502694" "00016372" "30" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(Ser101=)" "" "" "" "0000502695" "00016372" "10" "358" "0" "358" "0" "c.358G>T" "r.(?)" "p.(Ala120Ser)" "" "" "" "0000502696" "00016372" "10" "358" "0" "358" "0" "c.358G>T" "r.(?)" "p.(Ala120Ser)" "" "" "" "0000502697" "00016372" "30" "411" "0" "411" "0" "c.411G>A" "r.(?)" "p.(Arg137=)" "" "" "" "0000502698" "00016372" "30" "555" "0" "555" "0" "c.555G>T" "r.(?)" "p.(Lys185Asn)" "" "" "" "0000502699" "00016372" "30" "555" "0" "555" "0" "c.555G>T" "r.(?)" "p.(Lys185Asn)" "" "" "" "0000502700" "00016372" "50" "557" "0" "557" "0" "c.557T>C" "r.(?)" "p.(Ile186Thr)" "" "" "" "0000502702" "00016372" "50" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227Lys)" "" "" "" "0000502703" "00016372" "70" "741" "0" "741" "0" "c.741G>A" "r.(?)" "p.(Lys247=)" "" "" "" "0000502704" "00016372" "30" "802" "0" "802" "0" "c.802A>G" "r.(?)" "p.(Thr268Ala)" "" "" "" "0000502705" "00016372" "50" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Ser342=)" "" "" "" "0000502706" "00016372" "30" "1071" "0" "1071" "0" "c.1071G>A" "r.(?)" "p.(Ala357=)" "" "" "" "0000502707" "00016372" "30" "1152" "0" "1152" "0" "c.1152C>T" "r.(?)" "p.(Asp384=)" "" "" "" "0000502708" "00016372" "30" "1182" "0" "1182" "0" "c.1182G>C" "r.(?)" "p.(Arg394=)" "" "" "" "0000502709" "00016372" "30" "1202" "14" "1202" "14" "c.1202+14G>A" "r.(=)" "p.(=)" "" "" "" "0000502710" "00016372" "30" "1202" "14" "1202" "14" "c.1202+14G>A" "r.(=)" "p.(=)" "" "" "" "0000502711" "00016372" "50" "1334" "0" "1334" "0" "c.1334T>G" "r.(?)" "p.(Val445Gly)" "" "" "" "0000502712" "00016372" "50" "1334" "0" "1334" "0" "c.1334T>G" "r.(?)" "p.(Val445Gly)" "" "" "" "0000502714" "00016372" "50" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512Cys)" "" "" "" "0000502715" "00016372" "30" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512Cys)" "" "" "" "0000502716" "00016372" "10" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512Cys)" "" "" "" "0000502717" "00016372" "30" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512Cys)" "" "" "" "0000502718" "00016372" "50" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Glu522Lys)" "" "" "" "0000502719" "00016372" "10" "1632" "0" "1632" "0" "c.1632A>C" "r.(?)" "p.(Ala544=)" "" "" "" "0000502720" "00016372" "70" "1651" "-2" "1651" "-2" "c.1651-2A>G" "r.spl?" "p.?" "" "" "" "0000502721" "00016372" "90" "1651" "-2" "1651" "-2" "c.1651-2A>G" "r.spl?" "p.?" "" "" "" "0000502728" "00016372" "30" "1756" "-13" "1756" "-13" "c.1756-13C>T" "r.(=)" "p.(=)" "" "" "" "0000502729" "00016372" "10" "1788" "0" "1788" "0" "c.1788G>T" "r.(?)" "p.(Val596=)" "" "" "" "0000502730" "00016372" "30" "1791" "0" "1791" "0" "c.1791G>A" "r.(?)" "p.(Pro597=)" "" "" "" "0000502731" "00016372" "30" "1818" "0" "1818" "0" "c.1818C>A" "r.(?)" "p.(Ile606=)" "" "" "" "0000502732" "00016372" "10" "1902" "13" "1902" "13" "c.1902+13G>A" "r.(=)" "p.(=)" "" "" "" "0000502733" "00016372" "30" "1926" "0" "1926" "0" "c.1926C>T" "r.(?)" "p.(Val642=)" "" "" "" "0000502734" "00016372" "30" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Ile)" "" "" "" "0000502735" "00016372" "30" "2028" "8" "2028" "8" "c.2028+8G>T" "r.(=)" "p.(=)" "" "" "" "0000502736" "00016372" "50" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684Cys)" "" "" "" "0000502737" "00016372" "50" "2149" "0" "2149" "0" "c.2149A>C" "r.(?)" "p.(Thr717Pro)" "" "" "" "0000597876" "00016372" "90" "1999" "0" "1999" "0" "c.1999G>A" "r.(?)" "p.(Ala667Thr)" "" "" "" "0000597882" "00016372" "90" "1533" "0" "1533" "0" "c.1533C>G" "r.(?)" "p.(Tyr511*)" "" "" "" "0000604708" "00016372" "30" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(Ser101=)" "" "" "" "0000604709" "00016372" "30" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Glu170Lys)" "" "" "" "0000604710" "00016372" "30" "509" "0" "509" "0" "c.509A>T" "r.(?)" "p.(Glu170Val)" "" "" "" "0000604711" "00016372" "50" "952" "0" "952" "0" "c.952A>G" "r.(?)" "p.(Met318Val)" "" "" "" "0000604712" "00016372" "30" "963" "0" "963" "0" "c.963C>T" "r.(?)" "p.(Phe321=)" "" "" "" "0000604713" "00016372" "30" "1071" "0" "1071" "0" "c.1071G>A" "r.(?)" "p.(Ala357=)" "" "" "" "0000604714" "00016372" "50" "1097" "0" "1097" "0" "c.1097C>T" "r.(?)" "p.(Ala366Val)" "" "" "" "0000604715" "00016372" "50" "1327" "0" "1327" "0" "c.1327G>A" "r.(?)" "p.(Val443Ile)" "" "" "" "0000604716" "00016372" "50" "1650" "0" "1650" "0" "c.1650G>A" "r.(?)" "p.(Thr550=)" "" "" "" "0000620367" "00016372" "30" "77" "-3370" "77" "-3370" "c.77-3370G>A" "r.(=)" "p.(=)" "" "" "" "0000620368" "00016372" "50" "1930" "0" "1930" "0" "c.1930C>T" "r.(?)" "p.(Arg644Cys)" "" "" "" "0000647354" "00016372" "30" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Ala84Thr)" "" "" "" "0000647355" "00016372" "50" "376" "0" "376" "0" "c.376T>G" "r.(?)" "p.(Phe126Val)" "" "" "" "0000647356" "00016372" "50" "535" "0" "535" "0" "c.535G>T" "r.(?)" "p.(Asp179Tyr)" "" "" "" "0000647357" "00016372" "50" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Arg442His)" "" "" "" "0000647358" "00016372" "50" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499Trp)" "" "" "" "0000653610" "00016372" "50" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46His)" "" "" "" "0000653611" "00016372" "30" "169" "-310" "169" "-310" "c.169-310A>G" "r.(=)" "p.(=)" "" "" "" "0000653612" "00016372" "30" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(Ser101=)" "" "" "" "0000653613" "00016372" "30" "1097" "10" "1097" "10" "c.1097+10G>A" "r.(=)" "p.(=)" "" "" "" "0000653614" "00016372" "50" "1516" "0" "1516" "0" "c.1516C>T" "r.(?)" "p.(Leu506Phe)" "" "" "" "0000653615" "00016372" "30" "1650" "105" "1650" "105" "c.1650+105G>A" "r.(=)" "p.(=)" "" "" "" "0000653618" "00016372" "30" "2029" "-285" "2029" "-285" "c.2029-285A>C" "r.(=)" "p.(=)" "" "" "" "0000668962" "00016372" "30" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Ala84Thr)" "" "" "" "0000673823" "00016372" "70" "1462" "0" "1462" "0" "c.1462del" "r.0?" "p.(Arg488Glyfs*9)" "" "" "" "0000673824" "00016372" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.0?" "" "" "" "0000673942" "00016372" "90" "1462" "0" "1462" "0" "c.1462del" "r.(?)" "p.(Arg488Glyfs*9)" "" "" "" "0000673943" "00016372" "50" "2" "0" "2" "0" "c.2T>C" "r.?" "p.?" "" "" "" "0000675432" "00016372" "30" "77" "-3358" "77" "-3358" "c.77-3358C>T" "r.(=)" "p.(=)" "" "" "" "0000675433" "00016372" "50" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Val218Met)" "" "" "" "0000675434" "00016372" "30" "741" "261" "741" "261" "c.741+261C>T" "r.(=)" "p.(=)" "" "" "" "0000675435" "00016372" "30" "1473" "0" "1473" "0" "c.1473T>C" "r.(?)" "p.(Asp491=)" "" "" "" "0000687829" "00016372" "30" "302" "79" "302" "79" "c.302+79C>T" "r.(=)" "p.(=)" "" "" "" "0000701892" "00016372" "99" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Gln49*)" "2" "substitution" "nonsense" "0000701893" "00016372" "99" "153" "0" "154" "0" "c.153_154insC" "r.(?)" "p.(Asn52Glnfs*52)" "2" "insertion" "frameshift" "0000701894" "00016372" "99" "244" "0" "244" "0" "c.244A>T" "r.(?)" "p.(Lys82*)" "3" "substitution" "nonsense" "0000701895" "00016372" "99" "244" "0" "244" "0" "c.244A>T" "r.(?)" "p.(Lys82*)" "3" "substitution" "nonsense" "0000701896" "00016372" "99" "254" "0" "254" "0" "c.254T>C" "r.(?)" "p.(Leu85Pro)" "3" "substitution" "missense" "0000701897" "00016372" "11" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(=)" "3" "substitution" "silent" "0000701898" "00016372" "11" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Ala99Thr)" "3" "substitution" "missense" "0000701899" "00016372" "71" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Ala99Thr)" "3" "substitution" "missense" "0000701900" "00016372" "11" "358" "0" "358" "0" "c.358G>T" "r.(?)" "p.(Ala120Ser)" "4" "substitution" "missense" "0000701901" "00016372" "99" "426" "0" "426" "0" "c.426T>A" "r.(?)" "p.(Tyr142*)" "4" "substitution" "nonsense" "0000701902" "00016372" "99" "466" "1" "466" "1" "c.466+1G>A" "r.?" "-" "4i" "substitution" "splicing affected?" "0000701903" "00016372" "77" "467" "-2" "467" "-2" "c.467-2A>G" "r.?" "-" "4i" "substitution" "splicing affected?" "0000701904" "00016372" "99" "467" "-2" "467" "-2" "c.467-2del" "r.?" "-" "4i" "deletion" "splicing affected?" "0000701905" "00016372" "99" "579" "1" "579" "1" "c.579+1G>A" "r.?" "-" "5i" "substitution" "splicing affected?" "0000701906" "00016372" "99" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Gln208*)" "6" "substitution" "nonsense" "0000701907" "00016372" "11" "644" "-17" "644" "-17" "c.644-17T>G" "r.(?)" "p.(=)" "6i" "substitution" "silent" "0000701908" "00016372" "11" "741" "0" "741" "0" "c.741G>A" "r.?" "-" "7" "substitution" "silent" "0000701909" "00016372" "99" "926" "0" "934" "0" "c.926_934del" "r.(?)" "p.(Leu309_Leu311del)" "9" "deletion" "deletion" "0000701910" "00016372" "99" "955" "0" "955" "0" "c.955C>T" "r.(?)" "p.(Arg319*)" "9" "substitution" "nonsense" "0000701911" "00016372" "99" "955" "0" "955" "0" "c.955C>T" "r.(?)" "p.(Arg319*)" "9" "substitution" "nonsense" "0000701912" "00016372" "99" "955" "0" "955" "0" "c.955C>T" "r.(?)" "p.(Arg319*)" "9" "substitution" "nonsense" "0000701913" "00016372" "99" "955" "0" "955" "0" "c.955C>T" "r.(?)" "p.(Arg319*)" "9" "substitution" "nonsense" "0000701914" "00016372" "99" "955" "0" "955" "0" "c.955C>T" "r.(?)" "p.(Arg319*)" "9" "substitution" "nonsense" "0000701915" "00016372" "99" "955" "0" "955" "0" "c.955C>T" "r.(?)" "p.(Arg319*)" "9" "substitution" "nonsense" "0000701916" "00016372" "99" "955" "0" "955" "0" "c.955C>T" "r.(?)" "p.(Arg319*)" "9" "substitution" "nonsense" "0000701917" "00016372" "99" "975" "2" "975" "3" "c.975+2_975+3insTT" "r.(?)" "p.(Asp282_His325del)" "9i" "insertion" "deletion, exon" "0000701918" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701919" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701920" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701921" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701922" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701923" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701924" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701925" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701926" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701927" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701928" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701929" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701930" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701931" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701932" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701933" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701934" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701935" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701936" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701937" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701938" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701939" "00016372" "99" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701940" "00016372" "77" "975" "975" "1755" "1" "c.975+975_1755+?dup" "r.(?)" "p.(Glu326_Lys585dup)" "9i" "duplication" "duplication" "0000701941" "00016372" "77" "976" "-16" "976" "-16" "c.976-16C>T" "r.?" "-" "9i" "substitution" "splicing affected?" "0000701942" "00016372" "99" "979" "0" "979" "0" "c.979C>T" "r.(?)" "p.(Gln327*)" "10" "substitution" "nonsense" "0000701943" "00016372" "99" "979" "0" "979" "0" "c.979C>T" "r.(?)" "p.(Gln327*)" "10" "substitution" "nonsense" "0000701944" "00016372" "99" "1033" "0" "1033" "0" "c.1033C>T" "r.(?)" "p.(Gln345*)" "10" "substitution" "nonsense" "0000701945" "00016372" "99" "1095" "0" "1095" "0" "c.1095C>T" "r.?" "-" "10" "substitution" "splicing affected?" "0000701946" "00016372" "99" "1095" "0" "1095" "0" "c.1095C>T" "r.?" "-" "10" "substitution" "splicing affected?" "0000701947" "00016372" "77" "1098" "-1" "1328" "1" "c.(1097+1_1098-1)_(1328+1_1329-1)del" "r.(?)" "p.(Asp367_Val443del)" "10i" "deletion" "deletion" "0000701948" "00016372" "11" "1098" "-8" "1098" "-8" "c.1098-8C>T" "r.?" "-" "10i" "substitution" "splicing affected?" "0000701949" "00016372" "77" "1098" "-1" "1328" "1" "c.1098-?_1328+?del" "r.(?)" "p.(Asp367_Val443del)" "10i" "deletion" "deletion, multi exon" "0000701950" "00016372" "99" "1103" "0" "1117" "0" "c.1103_1117del" "r.(?)" "p.(Asp368_Gln372del)" "11" "deletion" "deletion" "0000701951" "00016372" "99" "1103" "0" "1117" "0" "c.1103_1117del" "r.(?)" "p.(Asp368_Gln372del)" "11" "deletion" "deletion" "0000701952" "00016372" "99" "1120" "0" "1756" "-1553" "c.1120_1756-1553del" "r.(?)" "p.(Asp367Profs*34)" "11" "deletion" "frameshift" "0000701953" "00016372" "11" "1206" "0" "1206" "0" "c.1206C>T" "r.(?)" "p.(=)" "12" "substitution" "silent" "0000701954" "00016372" "99" "1263" "0" "1263" "0" "c.1263dup" "r.(?)" "p.(Leu422Serfs*44)" "12" "insertion" "frameshift" "0000701955" "00016372" "99" "1302" "0" "1302" "0" "c.1302C>G" "r.(?)" "p.(Tyr434*)" "12" "substitution" "nonsense" "0000701956" "00016372" "99" "1302" "0" "1302" "0" "c.1302C>G" "r.(?)" "p.(Tyr434*)" "12" "substitution" "nonsense" "0000701957" "00016372" "99" "1336" "0" "1336" "0" "c.1336T>G" "r.(?)" "p.(Trp446Gly)" "13" "substitution" "missense" "0000701958" "00016372" "99" "1336" "0" "1336" "0" "c.1336T>G" "r.(?)" "p.(Trp446Gly)" "13" "substitution" "missense" "0000701959" "00016372" "99" "1362" "0" "1362" "0" "c.1362del" "r.(?)" "p.(Tyr455Thrfs*2)" "13" "deletion" "frameshift" "0000701960" "00016372" "99" "1362" "0" "1362" "0" "c.1362del" "r.(?)" "p.(Tyr455Thrfs*2)" "13" "deletion" "frameshift" "0000701961" "00016372" "99" "1362" "0" "1362" "0" "c.1362del" "r.(?)" "p.(Tyr455Thrfs*2)" "13" "deletion" "frameshift" "0000701962" "00016372" "99" "1362" "0" "1362" "0" "c.1362del" "r.(?)" "p.(Tyr455Thrfs*2)" "13" "deletion" "frameshift" "0000701963" "00016372" "77" "1388" "0" "1388" "0" "c.1388G>A" "r.(?)" "p.(Arg463Gln)" "13" "substitution" "missense" "0000701964" "00016372" "77" "1471" "-1" "1650" "1" "c.(1470+1_1471-1)_(1650+1_1651-1)del" "r.(?)" "p.(Asp491_Thr550del)" "13i" "deletion" "deletion" "0000701965" "00016372" "71" "1471" "-8" "1471" "-8" "c.1471-8C>T" "r.?" "-" "13i" "substitution" "splicing affected?" "0000701966" "00016372" "99" "1471" "-1" "1471" "-1" "c.1471-1G>A" "r.?" "-" "13i" "substitution" "splicing affected?" "0000701967" "00016372" "77" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499Trp)" "14" "substitution" "missense" "0000701968" "00016372" "99" "1533" "0" "1533" "0" "c.1533C>G" "r.(?)" "p.(Tyr511*)" "14" "substitution" "nonsense" "0000701969" "00016372" "99" "1533" "0" "1533" "0" "c.1533C>G" "r.(?)" "p.(Tyr511*)" "14" "substitution" "nonsense" "0000701970" "00016372" "99" "1533" "0" "1533" "0" "c.1533C>G" "r.(?)" "p.(Tyr511*)" "14" "substitution" "nonsense" "0000701971" "00016372" "99" "1533" "0" "1533" "0" "c.1533C>G" "r.(?)" "p.(Tyr511*)" "14" "substitution" "nonsense" "0000701972" "00016372" "99" "1533" "0" "1533" "0" "c.1533C>G" "r.(?)" "p.(Tyr511*)" "14" "substitution" "nonsense" "0000701973" "00016372" "99" "1533" "0" "1533" "0" "c.1533C>G" "r.(?)" "p.(Tyr511*)" "14" "substitution" "nonsense" "0000701974" "00016372" "99" "1563" "0" "1563" "0" "c.1563G>A" "r.(?)" "p.(Trp521*)" "14" "substitution" "nonsense" "0000701975" "00016372" "99" "1594" "0" "1596" "0" "c.1594_1596del" "r.(?)" "p.(Glu532del)" "15" "deletion" "deletion" "0000701976" "00016372" "11" "1632" "0" "1632" "0" "c.1632A>C" "r.(?)" "p.(=)" "15" "substitution" "silent" "0000701977" "00016372" "99" "1651" "-2" "1651" "-2" "c.1651-2A>G" "r.(?)" "p.(Pro551_Lys585del)" "15i" "substitution" "splicing affected?" "0000701978" "00016372" "99" "1651" "-2" "1651" "-2" "c.1651-2A>G" "r.(?)" "p.(Pro551_Lys585del)" "15i" "substitution" "splicing affected?" "0000701979" "00016372" "99" "1651" "-2" "1651" "-2" "c.1651-2del" "r.(?)" "p.(Pro551_Lys585del)" "15i" "deletion" "splicing affected?" "0000701980" "00016372" "99" "1677" "0" "1677" "0" "c.1677dup" "r.(?)" "p.(Ile560Hisfs*8)" "16" "duplication" "frameshift" "0000701981" "00016372" "99" "1756" "-1" "1902" "1" "c.1756-?_1902+?del" "r.(?)" "p.(Asp586_Arg634del)" "16i" "deletion" "deletion, exon" "0000701982" "00016372" "99" "1756" "-1" "1902" "1" "c.1756-?_1902+?del" "r.(?)" "p.(Asp586_Arg634del)" "16i" "deletion" "deletion, exon" "0000701983" "00016372" "99" "1760" "0" "1761" "0" "c.[1760_1761delinsGA; 1775_1788del; 1790C>G]" "r.(?)" "p.[(Asn587Arg);Gly592Alafs*4;(Pro597Arg)]" "17" "other/complex" "frameshift" "0000701984" "00016372" "99" "1836" "0" "1836" "0" "c.1836G>C" "r.(?)" "p.(Trp612Cys)" "17" "substitution" "missense" "0000701985" "00016372" "99" "1863" "0" "1864" "0" "c.1863_1864dup" "r.(?)" "p.(Pro622Argfs*3)" "17" "duplication" "frameshift" "0000701986" "00016372" "77" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Ile)" "18" "substitution" "missense" "0000701987" "00016372" "99" "1999" "0" "1999" "0" "c.1999G>A" "r.(?)" "p.(Ala667Thr)" "18" "substitution" "missense" "0000701988" "00016372" "99" "2008" "0" "2008" "0" "c.2008C>T" "r.(?)" "p.(Arg670*)" "18" "substitution" "nonsense" "0000701989" "00016372" "99" "2025" "0" "2025" "0" "c.2025C>G" "r.(?)" "p.(Tyr675*)" "18" "substitution" "nonsense" "0000701990" "00016372" "99" "2032" "0" "2032" "0" "c.2032G>A" "r.(?)" "p.(Gly678Arg)" "19" "substitution" "missense" "0000701991" "00016372" "99" "2032" "0" "2032" "0" "c.2032G>A" "r.(?)" "p.(Gly678Arg)" "19" "substitution" "missense" "0000701992" "00016372" "99" "2117" "0" "2117" "0" "c.2117A>G" "r.(?)" "p.(His706Arg)" "19" "substitution" "missense" "0000701993" "00016372" "77" "2170" "0" "2172" "0" "c.2170_2172del" "r.(?)" "p.(Phe724del)" "19" "deletion" "deletion" "0000716723" "00016372" "30" "77" "-3383" "77" "-3383" "c.77-3383C>T" "r.(=)" "p.(=)" "" "" "" "0000716724" "00016372" "30" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46His)" "" "" "" "0000798709" "00016372" "10" "358" "0" "358" "0" "c.358G>T" "r.(?)" "p.(Ala120Ser)" "" "" "" "0000798710" "00016372" "30" "1193" "0" "1193" "0" "c.1193A>C" "r.(?)" "p.(Gln398Pro)" "" "" "" "0000798711" "00016372" "30" "1328" "13" "1328" "13" "c.1328+13A>G" "r.(=)" "p.(=)" "" "" "" "0000798715" "00016372" "30" "1756" "-13" "1756" "-13" "c.1756-13C>T" "r.(=)" "p.(=)" "" "" "" "0000798716" "00016372" "50" "1805" "0" "1805" "0" "c.1805A>G" "r.(?)" "p.(His602Arg)" "" "" "" "0000821006" "00016372" "90" "-2794836" "0" "667319" "0" "c.-2794836_*665135del" "r.0?" "p.0?" "" "" "" "0000848259" "00016372" "50" "412" "0" "412" "0" "c.412C>G" "r.(?)" "p.(Leu138Val)" "" "" "" "0000848261" "00016372" "70" "2099" "0" "2099" "0" "c.2099A>G" "r.(?)" "p.(His700Arg)" "" "" "" "0000856915" "00016372" "30" "168" "6" "168" "6" "c.168+6G>C" "r.(=)" "p.(=)" "" "" "" "0000856916" "00016372" "30" "535" "0" "535" "0" "c.535G>T" "r.(?)" "p.(Asp179Tyr)" "" "" "" "0000856917" "00016372" "30" "802" "0" "802" "0" "c.802A>G" "r.(?)" "p.(Thr268Ala)" "" "" "" "0000856918" "00016372" "30" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(Ser380=)" "" "" "" "0000856919" "00016372" "30" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Val381Met)" "" "" "" "0000856920" "00016372" "30" "1152" "0" "1152" "0" "c.1152C>T" "r.(?)" "p.(Asp384=)" "" "" "" "0000856921" "00016372" "30" "2124" "0" "2124" "0" "c.2124T>C" "r.(?)" "p.(His708=)" "" "" "" "0000872434" "00016372" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" "" "" "" "0000872435" "00016372" "90" "2032" "0" "2032" "0" "c.2032G>A" "r.(?)" "p.(Gly678Arg)" "" "" "" "0000872437" "00016372" "90" "1255" "0" "1255" "0" "c.1255T>C" "r.(?)" "p.(Trp419Arg)" "" "" "" "0000874098" "00016372" "90" "1636" "0" "1646" "0" "c.1636_1646del" "r.(?)" "p.(Lys546Aspfs*18)" "" "" "" "0000882722" "00016372" "30" "2019" "0" "2019" "0" "c.2019G>C" "r.(?)" "p.(Val673=)" "" "" "" "0000922927" "00016372" "90" "1257" "0" "1257" "0" "c.1257G>A" "r.(?)" "p.(Trp419*)" "" "" "" "0000922928" "00016372" "10" "1632" "0" "1632" "0" "c.1632A>C" "r.(?)" "p.(Ala544=)" "" "" "" "0000927455" "00016372" "77" "1756" "-13" "1756" "-13" "c.1756-13C>A" "r.1756_1757insGTCACCTCCAG" "p.(Asp586Glyfs*22)" "" "insertion" "splicing affected" "0000927456" "00016372" "79" "814" "0" "818" "0" "c.814_818del" "r.?" "p.(Glu272Leufs*10)" "8" "deletion" "deletion" "0000927457" "00016372" "55" "2114" "0" "2114" "0" "c.2114C>T" "r.?" "p.(Thr705Met)" "19" "substitution" "missense" "0000927991" "00016372" "30" "309" "0" "309" "0" "c.309C>T" "r.(?)" "p.(=)" "" "" "" "0000927992" "00016372" "30" "843" "202" "843" "202" "c.843+202C>T" "r.(=)" "p.(=)" "" "" "" "0000946943" "00016372" "90" "1257" "0" "1257" "0" "c.1257G>A" "r.(?)" "p.(Trp419*)" "" "" "" "0000946944" "00016372" "30" "1584" "60" "1584" "60" "c.1584+60G>A" "r.(=)" "p.(=)" "" "" "" "0000946945" "00016372" "50" "1667" "0" "1667" "0" "c.1667A>G" "r.(?)" "p.(Tyr556Cys)" "" "" "" "0000960064" "00016372" "90" "955" "0" "955" "0" "c.955C>T" "r.955c>u" "p.Arg319Ter" "" "" "" "0000960065" "00016372" "90" "976" "-873" "1755" "1577" "c.976-873_1755+1577dup" "r.976_1755dup" "p.Glu326_Lys585dup" "9i_16i" "" "" "0000960408" "00016372" "30" "168" "150" "168" "150" "c.168+150C>T" "r.(=)" "p.(=)" "" "" "" "0000960409" "00016372" "50" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(Ser101=)" "" "" "" "0000960410" "00016372" "30" "467" "-228" "467" "-228" "c.467-228G>A" "r.(=)" "p.(=)" "" "" "" "0000960411" "00016372" "30" "844" "-184" "844" "-184" "c.844-184G>T" "r.(=)" "p.(=)" "" "" "" "0000960412" "00016372" "30" "1755" "95" "1755" "95" "c.1755+95A>G" "r.(=)" "p.(=)" "" "" "" "0000973219" "00016372" "30" "168" "6" "168" "6" "c.168+6G>C" "r.(=)" "p.(=)" "" "" "" "0000973220" "00016372" "50" "376" "0" "376" "0" "c.376T>G" "r.(?)" "p.(Phe126Val)" "" "" "" "0000973221" "00016372" "50" "726" "0" "726" "0" "c.726C>T" "r.(?)" "p.(=)" "" "" "" "0000973222" "00016372" "30" "1470" "53" "1470" "53" "c.1470+53G>A" "r.(=)" "p.(=)" "" "" "" "0000973223" "00016372" "50" "1667" "0" "1667" "0" "c.1667A>G" "r.(?)" "p.(Tyr556Cys)" "" "" "" "0000973224" "00016372" "50" "1718" "0" "1718" "0" "c.1718T>C" "r.(?)" "p.(Met573Thr)" "" "" "" "0000973227" "00016372" "30" "1887" "0" "1887" "0" "c.1887C>T" "r.(?)" "p.(=)" "" "" "" "0000973228" "00016372" "70" "2084" "0" "2084" "0" "c.2084dup" "r.(?)" "p.(Trp696Leufs*14)" "" "" "" "0000990165" "00016372" "50" "124" "0" "124" "0" "c.124C>T" "r.(?)" "p.(Arg42Cys)" "" "" "" "0000990166" "00016372" "30" "776" "0" "776" "0" "c.776G>A" "r.(?)" "p.(Arg259His)" "" "" "" "0000990167" "00016372" "30" "1471" "-242" "1471" "-242" "c.1471-242G>A" "r.(=)" "p.(=)" "" "" "" "0001022130" "00016372" "50" "1650" "0" "1650" "0" "c.1650G>A" "r.[1585_1650del,=]" "p.Asp529_Thr550del" "15" "" "" "0001024018" "00016372" "30" "555" "0" "555" "0" "c.555G>T" "r.(?)" "p.(Lys185Asn)" "" "" "" "0001024019" "00016372" "30" "976" "-16" "976" "-16" "c.976-16C>T" "r.(=)" "p.(=)" "" "" "" "0001031111" "00016372" "50" "-9" "0" "2" "0" "c.-9_2del" "r.?" "p.?" "" "" "" "0001031112" "00016372" "50" "128" "0" "128" "0" "c.128G>A" "r.(?)" "p.(Arg43His)" "" "" "" "0001031113" "00016372" "50" "303" "-8" "303" "-8" "c.303-8G>A" "r.(=)" "p.(=)" "" "" "" "0001031114" "00016372" "50" "1049" "0" "1049" "0" "c.1049T>C" "r.(?)" "p.(Val350Ala)" "" "" "" "0001031115" "00016372" "50" "1241" "0" "1241" "0" "c.1241T>C" "r.(?)" "p.(Leu414Pro)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 125 "{{screeningid}}" "{{variantid}}" "0000267027" "0000597876" "0000267027" "0000597882" "0000290665" "0000647354" "0000290666" "0000647355" "0000290667" "0000647356" "0000290668" "0000647357" "0000290669" "0000647358" "0000305274" "0000668962" "0000307242" "0000673823" "0000307242" "0000673824" "0000307324" "0000673942" "0000307324" "0000673943" "0000319226" "0000701892" "0000319226" "0000701950" "0000319227" "0000701893" "0000319227" "0000701904" "0000319228" "0000701894" "0000319229" "0000701895" "0000319230" "0000701896" "0000319231" "0000701897" "0000319232" "0000701898" "0000319233" "0000701899" "0000319234" "0000701900" "0000319235" "0000701901" "0000319235" "0000701943" "0000319236" "0000701902" "0000319237" "0000701903" "0000319237" "0000701949" "0000319238" "0000701905" "0000319238" "0000701972" "0000319239" "0000701906" "0000319240" "0000701907" "0000319241" "0000701908" "0000319241" "0000701940" "0000319242" "0000701909" "0000319242" "0000701993" "0000319243" "0000701910" "0000319244" "0000701911" "0000319245" "0000701912" "0000319246" "0000701913" "0000319247" "0000701914" "0000319248" "0000701915" "0000319249" "0000701916" "0000319250" "0000701917" "0000319251" "0000701918" "0000319252" "0000701919" "0000319253" "0000701920" "0000319254" "0000701921" "0000319255" "0000701922" "0000319255" "0000701959" "0000319256" "0000701923" "0000319257" "0000701924" "0000319258" "0000701925" "0000319259" "0000701926" "0000319260" "0000701927" "0000319261" "0000701928" "0000319262" "0000701929" "0000319263" "0000701930" "0000319263" "0000701988" "0000319264" "0000701931" "0000319264" "0000701971" "0000319265" "0000701932" "0000319266" "0000701933" "0000319266" "0000701983" "0000319267" "0000701934" "0000319268" "0000701935" "0000319269" "0000701936" "0000319270" "0000701937" "0000319271" "0000701938" "0000319272" "0000701939" "0000319273" "0000701941" "0000319274" "0000701942" "0000319275" "0000701944" "0000319276" "0000701945" "0000319276" "0000701951" "0000319277" "0000701946" "0000319278" "0000701947" "0000319278" "0000701964" "0000319279" "0000701948" "0000319280" "0000701952" "0000319281" "0000701953" "0000319282" "0000701954" "0000319283" "0000701955" "0000319284" "0000701956" "0000319285" "0000701957" "0000319286" "0000701958" "0000319287" "0000701960" "0000319288" "0000701961" "0000319289" "0000701962" "0000319290" "0000701963" "0000319291" "0000701965" "0000319292" "0000701966" "0000319293" "0000701967" "0000319294" "0000701968" "0000319295" "0000701969" "0000319296" "0000701970" "0000319297" "0000701973" "0000319297" "0000701974" "0000319298" "0000701975" "0000319298" "0000701990" "0000319299" "0000701976" "0000319300" "0000701977" "0000319301" "0000701978" "0000319302" "0000701979" "0000319302" "0000701981" "0000319303" "0000701980" "0000319304" "0000701982" "0000319305" "0000701984" "0000319306" "0000701985" "0000319307" "0000701986" "0000319308" "0000701987" "0000319309" "0000701989" "0000319310" "0000701991" "0000319311" "0000701992" "0000391270" "0000821006" "0000414729" "0000872434" "0000414729" "0000872437" "0000414730" "0000872435" "0000416071" "0000874098" "0000436469" "0000927455" "0000436469" "0000927456" "0000436470" "0000927457" "0000449630" "0000960064" "0000449631" "0000960065" "0000462603" "0001022130"