### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NOD2) # 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}}" "NOD2" "nucleotide-binding oligomerization domain containing 2" "16" "q12" "unknown" "LRG_177" "UD_132118881328" "" "https://www.LOVD.nl/NOD2" "" "1" "5331" "64127" "605956" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-27 16:20:08" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00014667" "NOD2" "nucleotide-binding oligomerization domain containing 2" "001" "NM_022162.1" "" "NP_071445.1" "" "" "" "-105" "4380" "3123" "50731050" "50766987" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02050" "IBD1" "bowel disease, inflammatory, type 1 (IBD-1)" "Mu" "266600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02854" "BLAUS" "Blau syndrome (BLAUS, sarcoidosis)" "AD" "186580" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-10-27 16:26:16" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05257" "YAOS" "Yao syndrome (YAOS)" "Mu" "617321" "" "autoinflammatory disease, by periodic fever, dermatitis, arthritis, swelling distal extremities, gastrointestinal and sicca-like symptoms" "" "00006" "2017-03-31 14:15:27" "00006" "2021-12-10 21:51:32" "05467" "Behcet" "Behcet syndrome" "" "109650" "" "" "" "00006" "2018-08-22 09:45:03" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "NOD2" "02050" "NOD2" "02854" "NOD2" "05257" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00035115" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035116" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035117" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035118" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00104034" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-755A" "00180623" "" "" "" "2" "" "02555" "{PMID:van Laar 2009:19748964}" "Caucasian, Middle Easterns and Asians cohort" "F;M" "" "(United Kingdom (Great Britain))" "" "0" "{DB:Uveo2608?snp=rs2066844%20&t=1535373759}" "" "white, Middle Easterns and Asians" "" "00291477" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291478" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291479" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291480" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291481" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291482" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291483" "" "" "" "161" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304516" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308748" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00315943" "" "" "" "1" "" "00006" "{PMID:Cordova-Fletes 2020:32597225}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat1" "00315944" "" "" "" "1" "" "00006" "{PMID:Cordova-Fletes 2020:32597225}" "" "F" "" "Mexico" "" "0" "" "" "" "Pat2" "00315945" "" "" "" "1" "" "00006" "{PMID:Cordova-Fletes 2020:32597225}" "" "F" "" "Mexico" "" "0" "" "" "" "Pat3" "00417428" "" "" "" "1" "" "00000" "{PMID:Zhang 2019:30882657}" "" "M" "" "" "" "0" "" "standard phacoemulsification both eyes; compound neomycin sulfate eye drops, gatifloxacin eye drops, and diclofenac sodium eye drops 4 times per day; brinzolamide eye drops 3 times a day, when the patient showed high intraocular pressure" "" "?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00104034" "03381" "00180623" "05467" "00291477" "00198" "00291478" "00198" "00291479" "00198" "00291480" "00198" "00291481" "00198" "00291482" "00198" "00291483" "00198" "00304516" "00198" "00308748" "00000" "00315943" "00198" "00315944" "00198" "00315945" "00198" "00417428" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 02050, 02854, 03381, 04214, 05257, 05467 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000081968" "03381" "00104034" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000143018" "05467" "00180623" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "" "0000239688" "00198" "00315943" "00006" "Unknown" "9y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Blau syndrome" "" "0000239689" "00198" "00315944" "00006" "Unknown" "13y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Blau syndrome" "" "0000239690" "00198" "00315945" "00006" "Unknown" "14y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Blau syndrome" "" "0000308914" "04214" "00417428" "00000" "Isolated (sporadic)" "11y" "no syndromes or associations detected, ocular examination of family members: no abnormalities; uncorrected and best-corrected visual acuity right eye: 20/500 and 20/200, respectively, left eye: 20/400 and could not be corrected; refractive correction in diopters (dpt) right/left eye: -8.50 dpt -2.00 x5 / -10.00 dpt -2.00 x 05; intraocular pressure right/left eye: 23/20 mm Hg; cornea, anterior chamber, and iris: normal; lens opacities categorized into C0N1P3 according to the lens opacities classification system II; surgery: phacoemulsification both eyes; on postoperative 1 week, the fundus examination after mydriasis: bilateral excavated macular coloboma about 1.5 x 1.5 disc diameter in size of the right eye and 2 x 2 disc diameter in size of the left eye, boundary of the defect legible; large choroidal vessels visible at the base and some pigment clumps located in the area around the defect in both eyes; optic discs of both eyes pale, cup to disc ratio about 0.5:1; optical coherence tomography: retina thinner than normal in macular region, multifocal electroretinography: no significant peak value; postoperative 1 day, intraocular pressure right/left eye: 28/29 mm Hg returned to normal after using brinzolamide eye drops; UCVA: 20/100 both eyes; BCVA: 20/70 both eyes" "" "" "blurred vision in both eyes from childhood" "" "" "" "" "" "congenital pigmented macular coloboma in combination with congenital cataract in both eyes" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000035185" "00035115" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035186" "00035116" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035187" "00035117" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035188" "00035118" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000104505" "00104034" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000181560" "00180623" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000292645" "00291477" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292646" "00291478" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292647" "00291479" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292648" "00291480" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292649" "00291481" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292650" "00291482" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292651" "00291483" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305645" "00304516" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309893" "00308748" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000317125" "00315943" "1" "00006" "00006" "2020-10-30 15:23:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317126" "00315944" "1" "00006" "00006" "2020-10-30 15:23:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317127" "00315945" "1" "00006" "00006" "2020-10-30 15:23:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000418721" "00417428" "1" "00000" "03840" "2022-09-16 12:30:21" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "capture panel of the genes related to congenital cataract and retinal diseases" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000035185" "NOD2" "0000035186" "NOD2" "0000035187" "NOD2" "0000035188" "NOD2" "0000181560" "NOD2" "0000309893" "NOD2" "0000317125" "NOD2" "0000317125" "PRR12" "0000317126" "NOD2" "0000317126" "TLR10" "0000317127" "MEFV" "0000317127" "NOD2" "0000317127" "SLC22A5" "0000418721" "FZD4" ## 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 = 196 "{{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}}" "0000062304" "1" "90" "16" "50745926" "50745926" "subst" "0.0258763" "01164" "NOD2_000002" "g.50745926C>T" "" "" "" "" "HGMD" "Germline" "" "" "0" "" "" "g.50712015C>T" "" "pathogenic" "" "0000062305" "1" "50" "16" "50745929" "50745929" "subst" "0.00328799" "01164" "NOD2_000003" "g.50745929C>T" "" "" "" "" "HGMD possibly disease associated" "Germline" "" "rs5743277" "0" "" "" "g.50712018C>T" "" "VUS" "" "0000062306" "1" "90" "16" "50756540" "50756540" "subst" "0.0112578" "01164" "NOD2_000001" "g.50756540G>C" "" "" "" "" "HGMD" "Germline" "" "" "0" "" "" "g.50722629G>C" "" "pathogenic" "" "0000062307" "1" "90" "16" "50746194" "50746194" "subst" "0.00156343" "01164" "NOD2_000004" "g.50746194G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50712283G>A" "" "pathogenic" "" "0000169417" "0" "70" "16" "50744565" "50744565" "subst" "0.00055649" "00587" "NOD2_000005" "g.50744565T>G" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_022162.2(NOD2):c.743T>G p.(Leu248Arg)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.50710654T>G" "" "likely pathogenic" "" "0000250731" "0" "30" "16" "50744688" "50744688" "subst" "0.00437665" "02326" "NOD2_000018" "g.50744688A>G" "" "" "" "NOD2(NM_022162.1):c.866A>G (p.N289S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50710777A>G" "" "likely benign" "" "0000251079" "0" "10" "16" "50744877" "50744877" "subst" "0.000926001" "02326" "NOD2_000022" "g.50744877A>G" "" "" "" "NOD2(NM_022162.1):c.1055A>G (p.H352R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50710966A>G" "" "benign" "" "0000251590" "0" "10" "16" "50746294" "50746294" "subst" "0.0130794" "02326" "NOD2_000044" "g.50746294A>C" "" "" "" "NOD2(NM_022162.1):c.2462+10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50712383A>C" "" "benign" "" "0000251591" "0" "30" "16" "50757065" "50757065" "del" "0" "02326" "NOD2_000038" "g.50757065del" "" "" "" "NOD2(NM_022162.1):c.2799-147delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50723154del" "" "likely benign" "" "0000251930" "0" "30" "16" "50750842" "50750842" "subst" "0.00133186" "02326" "NOD2_000045" "g.50750842A>G" "" "" "" "NOD2(NM_022162.1):c.2587A>G (p.M863V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50716931A>G" "" "likely benign" "" "0000252374" "0" "50" "16" "50744991" "50744991" "subst" "3.24886E-5" "02326" "NOD2_000024" "g.50744991A>T" "" "" "" "NOD2(NM_022162.1):c.1169A>T (p.D390V), NOD2(NM_022162.3):c.1169A>T (p.D390V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50711080A>T" "" "VUS" "" "0000253083" "0" "10" "16" "50744688" "50744688" "subst" "0.00437665" "01943" "NOD2_000018" "g.50744688A>G" "" "" "" "NOD2(NM_022162.1):c.866A>G (p.N289S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50710777A>G" "" "benign" "" "0000255918" "0" "50" "16" "50744568" "50744568" "subst" "0.000170599" "01943" "NOD2_000016" "g.50744568A>G" "" "" "" "NOD2(NM_022162.1):c.746A>G (p.E249G), NOD2(NM_022162.3):c.746A>G (p.E249G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50710657A>G" "" "VUS" "" "0000296513" "0" "10" "16" "50757276" "50757276" "subst" "0.0626493" "02325" "NOD2_000040" "g.50757276G>A" "" "" "" "NOD2(NM_022162.1):c.2863G>A (p.V955I), NOD2(NM_022162.3):c.2863G>A (p.V955I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50723365G>A" "" "benign" "" "0000296514" "0" "10" "16" "50763781" "50763781" "dup" "0" "02325" "NOD2_000043" "g.50763781dup" "" "" "" "NOD2(NM_001370466.1):c.2938dup (p.(Leu980ProfsTer2)), NOD2(NM_022162.1):c.3019dupC (p.L1007Pfs*2), NOD2(NM_022162.3):c.3019dupC (p.L1007Pfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50729870dup" "" "benign" "" "0000296515" "0" "30" "16" "50741791" "50741791" "subst" "0.00226176" "02325" "NOD2_000014" "g.50741791C>T" "" "" "" "NOD2(NM_022162.1):c.566C>T (p.T189M), NOD2(NM_022162.3):c.566C>T (p.T189M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50707880C>T" "" "likely benign" "" "0000296516" "0" "10" "16" "50744624" "50744624" "subst" "0.188919" "02325" "NOD2_000017" "g.50744624C>T" "" "" "" "NOD2(NM_022162.1):c.802C>T (p.P268S), NOD2(NM_022162.3):c.802C>T (p.P268S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50710713C>T" "" "benign" "" "0000300262" "0" "30" "16" "50731097" "50731097" "subst" "0" "02326" "NOD2_000006" "g.50731097T>C" "" "" "" "NOD2(NM_022162.1):c.-58T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50697186T>C" "" "likely benign" "" "0000300263" "0" "90" "16" "50744822" "50744822" "subst" "0" "02326" "NOD2_000020" "g.50744822C>T" "" "" "" "NOD2(NM_022162.1):c.1000C>T (p.R334W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50710911C>T" "" "pathogenic" "" "0000300264" "0" "90" "16" "50744823" "50744823" "subst" "0" "02326" "NOD2_000021" "g.50744823G>A" "" "" "" "NOD2(NM_022162.1):c.1001G>A (p.R334Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50710912G>A" "" "pathogenic" "" "0000300265" "0" "50" "16" "50744939" "50744939" "subst" "0.000186802" "02326" "NOD2_000023" "g.50744939C>T" "" "" "" "NOD2(NM_022162.1):c.1117C>T (p.R373C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50711028C>T" "" "VUS" "" "0000300266" "0" "10" "16" "50745275" "50745275" "subst" "0.00227349" "02326" "NOD2_000025" "g.50745275C>T" "" "" "" "NOD2(NM_022162.1):c.1453C>T (p.L485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50711364C>T" "" "benign" "" "0000300267" "0" "90" "16" "50745318" "50745318" "subst" "0" "02326" "NOD2_000026" "g.50745318T>A" "" "" "" "NOD2(NM_022162.1):c.1496T>A (p.L499Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50711407T>A" "" "pathogenic" "" "0000300268" "0" "50" "16" "50745324" "50745324" "subst" "0" "02326" "NOD2_000027" "g.50745324T>C" "" "" "" "NOD2(NM_022162.1):c.1502T>C (p.L501P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50711413T>C" "" "VUS" "" "0000300269" "0" "90" "16" "50745360" "50745360" "subst" "0" "02326" "NOD2_000028" "g.50745360T>C" "" "" "" "NOD2(NM_022162.1):c.1538T>C (p.M513T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50711449T>C" "" "pathogenic" "" "0000300270" "0" "10" "16" "50745583" "50745583" "subst" "0.33033" "02326" "NOD2_000029" "g.50745583T>G" "" "" "" "NOD2(NM_022162.1):c.1761T>G (p.R587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50711672T>G" "" "benign" "" "0000300271" "0" "30" "16" "50745825" "50745825" "subst" "0.000487517" "02326" "NOD2_000030" "g.50745825C>T" "" "" "" "NOD2(NM_022162.1):c.2003C>T (p.P668L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50711914C>T" "" "likely benign" "" "0000300272" "0" "30" "16" "50745872" "50745872" "subst" "0.000404385" "02326" "NOD2_000031" "g.50745872C>T" "" "" "" "NOD2(NM_022162.1):c.2050C>T (p.R684W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50711961C>T" "" "likely benign" "" "0000300273" "0" "50" "16" "50745926" "50745926" "subst" "0.0258763" "02326" "NOD2_000002" "g.50745926C>T" "" "" "" "NOD2(NM_001370466.1):c.2023C>T (p.(Arg675Trp)), NOD2(NM_022162.1):c.2104C>T (p.R702W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50712015C>T" "" "VUS" "" "0000300274" "0" "10" "16" "50745929" "50745929" "subst" "0.00328799" "02326" "NOD2_000003" "g.50745929C>T" "" "" "" "NOD2(NM_022162.1):c.2107C>T (p.R703C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50712018C>T" "" "benign" "" "0000300275" "0" "10" "16" "50745945" "50745945" "subst" "0.00156832" "02326" "NOD2_000032" "g.50745945G>A" "" "" "" "NOD2(NM_022162.1):c.2123G>A (p.R708H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50712034G>A" "" "benign" "" "0000300276" "0" "30" "16" "50746086" "50746086" "subst" "0.00245134" "02326" "NOD2_000033" "g.50746086C>T" "" "" "" "NOD2(NM_022162.1):c.2264C>T (p.A755V), NOD2(NM_022162.3):c.2264C>T (p.A755V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50712175C>T" "" "likely benign" "" "0000300277" "0" "10" "16" "50746191" "50746191" "subst" "0.00231567" "02326" "NOD2_000034" "g.50746191G>A" "" "" "" "NOD2(NM_022162.1):c.2369G>A (p.R790Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50712280G>A" "" "benign" "" "0000300278" "0" "10" "16" "50746228" "50746228" "subst" "0.00167035" "02326" "NOD2_000036" "g.50746228G>T" "" "" "" "NOD2(NM_022162.1):c.2406G>T (p.V802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50712317G>T" "" "benign" "" "0000300279" "0" "50" "16" "50756540" "50756540" "subst" "0.0112578" "02326" "NOD2_000001" "g.50756540G>C" "" "" "" "NOD2(NM_001370466.1):c.2641G>C (p.(Gly881Arg)), NOD2(NM_022162.1):c.2722G>C (p.G908R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50722629G>C" "" "VUS" "" "0000300280" "0" "10" "16" "50757276" "50757276" "subst" "0.0626493" "02326" "NOD2_000040" "g.50757276G>A" "" "" "" "NOD2(NM_022162.1):c.2863G>A (p.V955I), NOD2(NM_022162.3):c.2863G>A (p.V955I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50723365G>A" "" "benign" "" "0000300281" "0" "10" "16" "50759269" "50759269" "subst" "0" "02326" "NOD2_000041" "g.50759269T>A" "" "" "" "NOD2(NM_022162.1):c.2883-131T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50725358T>A" "" "benign" "" "0000300283" "0" "10" "16" "50733859" "50733859" "subst" "0.331954" "02326" "NOD2_000013" "g.50733859C>G" "" "" "" "NOD2(NM_022162.1):c.534C>G (p.S178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50699948C>G" "" "benign" "" "0000300284" "0" "30" "16" "50741791" "50741791" "subst" "0.00226176" "02326" "NOD2_000014" "g.50741791C>T" "" "" "" "NOD2(NM_022162.1):c.566C>T (p.T189M), NOD2(NM_022162.3):c.566C>T (p.T189M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50707880C>T" "" "likely benign" "" "0000300285" "0" "10" "16" "50741858" "50741858" "subst" "0.000864897" "02326" "NOD2_000015" "g.50741858C>T" "" "" "" "NOD2(NM_022162.1):c.633C>T (p.A211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50707947C>T" "" "benign" "" "0000300286" "0" "10" "16" "50733370" "50733370" "subst" "0.0113403" "02326" "NOD2_000007" "g.50733370T>G" "" "" "" "NOD2(NM_022162.1):c.74-29T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50699459T>G" "" "benign" "" "0000300287" "0" "10" "16" "50744624" "50744624" "subst" "0.188919" "02326" "NOD2_000017" "g.50744624C>T" "" "" "" "NOD2(NM_022162.1):c.802C>T (p.P268S), NOD2(NM_022162.3):c.802C>T (p.P268S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50710713C>T" "" "benign" "" "0000304231" "0" "30" "16" "50733465" "50733465" "subst" "0.000235828" "01943" "NOD2_000009" "g.50733465C>T" "" "" "" "NOD2(NM_022162.1):c.140C>T (p.S47L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50699554C>T" "" "likely benign" "" "0000304232" "0" "10" "16" "50745583" "50745583" "subst" "0.33033" "01943" "NOD2_000029" "g.50745583T>G" "" "" "" "NOD2(NM_022162.1):c.1761T>G (p.R587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50711672T>G" "" "benign" "" "0000304233" "0" "50" "16" "50733539" "50733539" "subst" "8.53672E-5" "01943" "NOD2_000010" "g.50733539G>A" "" "" "" "NOD2(NM_022162.1):c.214G>A (p.E72K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50699628G>A" "" "VUS" "" "0000304234" "0" "50" "16" "50746199" "50746199" "subst" "0.00113429" "01943" "NOD2_000035" "g.50746199G>A" "" "" "" "NOD2(NM_022162.1):c.2377G>A (p.V793M), NOD2(NM_022162.3):c.2377G>A (p.V793M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50712288G>A" "" "VUS" "" "0000304236" "0" "10" "16" "50757276" "50757276" "subst" "0.0626493" "01943" "NOD2_000040" "g.50757276G>A" "" "" "" "NOD2(NM_022162.1):c.2863G>A (p.V955I), NOD2(NM_022162.3):c.2863G>A (p.V955I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50723365G>A" "" "benign" "" "0000304237" "0" "30" "16" "50733640" "50733640" "subst" "7.32219E-5" "01943" "NOD2_000011" "g.50733640G>A" "" "" "" "NOD2(NM_022162.1):c.315G>A (p.A105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50699729G>A" "" "likely benign" "" "0000304238" "0" "10" "16" "50733743" "50733743" "subst" "0.00168541" "01943" "NOD2_000012" "g.50733743G>A" "" "" "" "NOD2(NM_022162.1):c.418G>A (p.A140T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50699832G>A" "" "benign" "" "0000304239" "0" "10" "16" "50733859" "50733859" "subst" "0.331954" "01943" "NOD2_000013" "g.50733859C>G" "" "" "" "NOD2(NM_022162.1):c.534C>G (p.S178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50699948C>G" "" "benign" "" "0000304240" "0" "30" "16" "50741791" "50741791" "subst" "0.00226176" "01943" "NOD2_000014" "g.50741791C>T" "" "" "" "NOD2(NM_022162.1):c.566C>T (p.T189M), NOD2(NM_022162.3):c.566C>T (p.T189M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50707880C>T" "" "likely benign" "" "0000304241" "0" "30" "16" "50733392" "50733392" "subst" "0.00230475" "01943" "NOD2_000008" "g.50733392T>A" "" "" "" "NOD2(NM_022162.1):c.74-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50699481T>A" "" "likely benign" "" "0000304242" "0" "30" "16" "50744752" "50744752" "subst" "8.13564E-6" "01943" "NOD2_000019" "g.50744752G>A" "" "" "" "NOD2(NM_022162.1):c.930G>A (p.Q310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50710841G>A" "" "likely benign" "" "0000341581" "0" "50" "16" "50746086" "50746086" "subst" "0.00245134" "02327" "NOD2_000033" "g.50746086C>T" "" "" "" "NOD2(NM_022162.1):c.2264C>T (p.A755V), NOD2(NM_022162.3):c.2264C>T (p.A755V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50712175C>T" "" "VUS" "" "0000405256" "0" "50" "16" "50745926" "50745926" "subst" "0.0258763" "02555" "NOD2_000002" "g.50745926C>T" "2/400 cases" "{PMID:van Laar 2009:19748964}" "" "" "{DB:Uveo2608?snp=rs2066844%20&t=1535373759}" "Germline" "" "rs2066844" "0" "" "" "g.50712015C>T" "" "VUS" "" "0000558326" "0" "50" "16" "50733465" "50733465" "subst" "0.000235828" "02327" "NOD2_000009" "g.50733465C>T" "" "" "" "NOD2(NM_022162.1):c.140C>T (p.S47L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50699554C>T" "" "VUS" "" "0000558327" "0" "30" "16" "50733465" "50733465" "subst" "0.000235828" "02326" "NOD2_000009" "g.50733465C>T" "" "" "" "NOD2(NM_022162.1):c.140C>T (p.S47L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50699554C>T" "" "likely benign" "" "0000558328" "0" "30" "16" "50733699" "50733699" "subst" "0.000211752" "01943" "NOD2_000050" "g.50733699C>T" "" "" "" "NOD2(NM_022162.1):c.374C>T (p.P125L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50699788C>T" "" "likely benign" "" "0000558329" "0" "10" "16" "50741763" "50741763" "subst" "0.00200594" "02326" "NOD2_000051" "g.50741763T>C" "" "" "" "NOD2(NM_022162.1):c.541-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50707852T>C" "" "benign" "" "0000558330" "0" "30" "16" "50741792" "50741792" "subst" "0.000397937" "01943" "NOD2_000052" "g.50741792G>A" "" "" "" "NOD2(NM_022162.1):c.567G>A (p.T189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50707881G>A" "" "likely benign" "" "0000558331" "0" "50" "16" "50744753" "50744753" "subst" "0.000581845" "01943" "NOD2_000053" "g.50744753C>T" "" "" "" "NOD2(NM_022162.1):c.931C>T (p.R311W), NOD2(NM_022162.3):c.931C>T (p.R311W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50710842C>T" "" "VUS" "" "0000558332" "0" "30" "16" "50744753" "50744753" "subst" "0.000581845" "02326" "NOD2_000053" "g.50744753C>T" "" "" "" "NOD2(NM_022162.1):c.931C>T (p.R311W), NOD2(NM_022162.3):c.931C>T (p.R311W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50710842C>T" "" "likely benign" "" "0000558333" "0" "50" "16" "50744844" "50744844" "subst" "0" "01943" "NOD2_000054" "g.50744844A>C" "" "" "" "NOD2(NM_022162.1):c.1022A>C (p.K341T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50710933A>C" "" "VUS" "" "0000558334" "0" "50" "16" "50744909" "50744909" "subst" "4.87298E-5" "01943" "NOD2_000055" "g.50744909A>T" "" "" "" "NOD2(NM_022162.1):c.1087A>T (p.I363F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50710998A>T" "" "VUS" "" "0000558335" "0" "30" "16" "50745091" "50745091" "subst" "0.000618007" "02326" "NOD2_000056" "g.50745091G>T" "" "" "" "NOD2(NM_022162.1):c.1269G>T (p.V423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50711180G>T" "" "likely benign" "" "0000558336" "0" "30" "16" "50745103" "50745103" "subst" "8.13769E-6" "02326" "NOD2_000057" "g.50745103G>C" "" "" "" "NOD2(NM_022162.1):c.1281G>C (p.P427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50711192G>C" "" "likely benign" "" "0000558337" "0" "50" "16" "50745114" "50745114" "subst" "0.000968921" "01943" "NOD2_000058" "g.50745114C>T" "" "" "" "NOD2(NM_022162.1):c.1292C>T (p.S431L), NOD2(NM_022162.3):c.1292C>T (p.S431L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50711203C>T" "" "VUS" "" "0000558338" "0" "10" "16" "50745199" "50745199" "subst" "0.190589" "02325" "NOD2_000059" "g.50745199C>T" "" "" "" "NOD2(NM_022162.1):c.1377C>T (p.R459=), NOD2(NM_022162.3):c.1377C>T (p.R459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50711288C>T" "" "benign" "" "0000558339" "0" "10" "16" "50745199" "50745199" "subst" "0.190589" "02326" "NOD2_000059" "g.50745199C>T" "" "" "" "NOD2(NM_022162.1):c.1377C>T (p.R459=), NOD2(NM_022162.3):c.1377C>T (p.R459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50711288C>T" "" "benign" "" "0000558340" "0" "30" "16" "50745233" "50745233" "subst" "0.00145536" "02326" "NOD2_000060" "g.50745233C>T" "" "" "" "NOD2(NM_022162.1):c.1411C>T (p.R471C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50711322C>T" "" "likely benign" "" "0000558341" "0" "10" "16" "50745610" "50745610" "subst" "0.000366175" "02326" "NOD2_000061" "g.50745610G>A" "" "" "" "NOD2(NM_022162.1):c.1788G>A (p.T596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50711699G>A" "" "benign" "" "0000558342" "0" "10" "16" "50745655" "50745655" "subst" "0.00981523" "01943" "NOD2_000062" "g.50745655C>T" "" "" "" "NOD2(NM_022162.1):c.1833C>T (p.A611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50711744C>T" "" "benign" "" "0000558343" "0" "30" "16" "50745655" "50745655" "subst" "0.00981523" "02326" "NOD2_000062" "g.50745655C>T" "" "" "" "NOD2(NM_022162.1):c.1833C>T (p.A611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50711744C>T" "" "likely benign" "" "0000558344" "0" "30" "16" "50745818" "50745818" "subst" "0" "01943" "NOD2_000063" "g.50745818G>A" "" "" "" "NOD2(NM_022162.1):c.1996G>A (p.A666T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50711907G>A" "" "likely benign" "" "0000558345" "0" "10" "16" "50745945" "50745945" "subst" "0.00156832" "01943" "NOD2_000032" "g.50745945G>A" "" "" "" "NOD2(NM_022162.1):c.2123G>A (p.R708H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50712034G>A" "" "benign" "" "0000558346" "0" "30" "16" "50745967" "50745967" "subst" "0" "02326" "NOD2_000064" "g.50745967C>T" "" "" "" "NOD2(NM_022162.1):c.2145C>T (p.L715=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50712056C>T" "" "likely benign" "" "0000558347" "0" "50" "16" "50745990" "50745990" "subst" "0.000114005" "01943" "NOD2_000065" "g.50745990C>T" "" "" "" "NOD2(NM_022162.1):c.2168C>T (p.P723L), NOD2(NM_022162.3):c.2168C>T (p.P723L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50712079C>T" "" "VUS" "" "0000558348" "0" "50" "16" "50745990" "50745990" "subst" "0.000114005" "02325" "NOD2_000065" "g.50745990C>T" "" "" "" "NOD2(NM_022162.1):c.2168C>T (p.P723L), NOD2(NM_022162.3):c.2168C>T (p.P723L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50712079C>T" "" "VUS" "" "0000558349" "0" "10" "16" "50745996" "50745996" "subst" "0.00312915" "02326" "NOD2_000066" "g.50745996C>G" "" "" "" "NOD2(NM_001370466.1):c.2093C>G (p.(Ala698Gly)), NOD2(NM_022162.1):c.2174C>G (p.A725G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50712085C>G" "" "benign" "" "0000558350" "0" "30" "16" "50746086" "50746086" "subst" "0.00245134" "01943" "NOD2_000033" "g.50746086C>T" "" "" "" "NOD2(NM_022162.1):c.2264C>T (p.A755V), NOD2(NM_022162.3):c.2264C>T (p.A755V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50712175C>T" "" "likely benign" "" "0000558352" "0" "50" "16" "50746095" "50746095" "subst" "1.22006E-5" "02325" "NOD2_000067" "g.50746095C>T" "" "" "" "NOD2(NM_022162.3):c.2273C>T (p.A758V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50712184C>T" "" "VUS" "" "0000558353" "0" "50" "16" "50746164" "50746164" "subst" "0" "02327" "NOD2_000068" "g.50746164C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50712253C>T" "" "VUS" "" "0000558354" "0" "50" "16" "50746193" "50746193" "subst" "5.72902E-5" "01943" "NOD2_000069" "g.50746193C>T" "" "" "" "NOD2(NM_022162.1):c.2371C>T (p.R791W), NOD2(NM_022162.3):c.2371C>T (p.R791W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50712282C>T" "" "VUS" "" "0000558355" "0" "30" "16" "50750489" "50750489" "subst" "0.000179022" "02326" "NOD2_000070" "g.50750489T>A" "" "" "" "NOD2(NM_022162.1):c.2463-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50716578T>A" "" "likely benign" "" "0000558356" "0" "50" "16" "50750583" "50750583" "dup" "0" "01943" "NOD2_000071" "g.50750583dup" "" "" "" "NOD2(NM_022162.1):c.2546+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50716672dup" "" "VUS" "" "0000558357" "0" "30" "16" "50750599" "50750599" "subst" "4.07083E-6" "02326" "NOD2_000072" "g.50750599G>A" "" "" "" "NOD2(NM_022162.1):c.2546+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50716688G>A" "" "likely benign" "" "0000558358" "0" "30" "16" "50750810" "50750810" "subst" "0.00116539" "01943" "NOD2_000073" "g.50750810A>G" "" "" "" "NOD2(NM_022162.1):c.2555A>G (p.N852S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50716899A>G" "" "likely benign" "" "0000558359" "0" "30" "16" "50756540" "50756540" "subst" "0.0112578" "01943" "NOD2_000001" "g.50756540G>C" "" "" "" "NOD2(NM_001370466.1):c.2641G>C (p.(Gly881Arg)), NOD2(NM_022162.1):c.2722G>C (p.G908R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50722629G>C" "" "likely benign" "" "0000558360" "0" "50" "16" "50756553" "50756553" "subst" "2.43667E-5" "01943" "NOD2_000074" "g.50756553G>C" "" "" "" "NOD2(NM_022162.1):c.2735G>C (p.G912A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50722642G>C" "" "VUS" "" "0000558363" "0" "50" "16" "50757241" "50757241" "subst" "0" "01943" "NOD2_000076" "g.50757241G>T" "" "" "" "NOD2(NM_022162.1):c.2828G>T (p.G943V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50723330G>T" "" "VUS" "" "0000558364" "0" "30" "16" "50763781" "50763781" "dup" "0" "02326" "NOD2_000043" "g.50763781dup" "" "" "" "NOD2(NM_001370466.1):c.2938dup (p.(Leu980ProfsTer2)), NOD2(NM_022162.1):c.3019dupC (p.L1007Pfs*2), NOD2(NM_022162.3):c.3019dupC (p.L1007Pfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50729870dup" "" "likely benign" "" "0000616017" "0" "30" "16" "50733809" "50733809" "subst" "0.000106333" "01943" "NOD2_000077" "g.50733809G>A" "" "" "" "NOD2(NM_022162.1):c.484G>A (p.V162I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50699898G>A" "" "likely benign" "" "0000616018" "0" "50" "16" "50744565" "50744565" "subst" "0.00055649" "01943" "NOD2_000005" "g.50744565T>G" "" "" "" "NOD2(NM_022162.1):c.743T>G (p.L248R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50710654T>G" "" "VUS" "" "0000616019" "0" "50" "16" "50745017" "50745017" "subst" "1.21853E-5" "01943" "NOD2_000078" "g.50745017G>A" "" "" "" "NOD2(NM_022162.1):c.1195G>A (p.D399N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50711106G>A" "" "VUS" "" "0000616020" "0" "50" "16" "50745117" "50745117" "subst" "0.00016699" "01943" "NOD2_000079" "g.50745117C>T" "" "" "" "NOD2(NM_022162.1):c.1295C>T (p.A432V), NOD2(NM_022162.3):c.1295C>T (p.A432V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50711206C>T" "" "VUS" "" "0000616021" "0" "30" "16" "50745960" "50745960" "subst" "0.000470791" "01943" "NOD2_000080" "g.50745960G>A" "" "" "" "NOD2(NM_022162.1):c.2138G>A (p.R713H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50712049G>A" "" "likely benign" "" "0000616022" "0" "50" "16" "50746194" "50746194" "subst" "0.00156343" "02325" "NOD2_000004" "g.50746194G>A" "" "" "" "NOD2(NM_022162.1):c.2372G>A (p.R791Q), NOD2(NM_022162.3):c.2372G>A (p.R791Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50712283G>A" "" "VUS" "" "0000616023" "0" "30" "16" "50746228" "50746228" "subst" "0.00167035" "01943" "NOD2_000036" "g.50746228G>T" "" "" "" "NOD2(NM_022162.1):c.2406G>T (p.V802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50712317G>T" "" "likely benign" "" "0000616024" "0" "30" "16" "50756571" "50756571" "subst" "0.000588842" "01943" "NOD2_000081" "g.50756571C>A" "" "" "" "NOD2(NM_022162.1):c.2753C>A (p.A918D), NOD2(NM_022162.3):c.2753C>A (p.A918D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50722660C>A" "" "likely benign" "" "0000649334" "1" "50" "16" "50733738" "50733738" "subst" "8.54944E-5" "03575" "NOD2_000082" "g.50733738G>A" "2/2784 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs104895456}" "Germline" "" "rs104895456" "0" "" "" "g.50699827G>A" "" "VUS" "" "0000649335" "1" "30" "16" "50744703" "50744703" "subst" "0.00195204" "03575" "NOD2_000083" "g.50744703C>G" "3/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs104895425}" "Germline" "" "rs104895425" "0" "" "" "g.50710792C>G" "" "likely benign" "" "0000649336" "1" "50" "16" "50744753" "50744753" "subst" "0.000581845" "03575" "NOD2_000053" "g.50744753C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs104895427}" "Germline" "" "rs104895427" "0" "" "" "g.50710842C>T" "" "VUS" "" "0000649337" "1" "30" "16" "50745114" "50745114" "subst" "0.000968921" "03575" "NOD2_000058" "g.50745114C>T" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs104895431}" "Germline" "" "rs104895431" "0" "" "" "g.50711203C>T" "" "likely benign" "" "0000649338" "1" "50" "16" "50745926" "50745926" "subst" "0.0258763" "03575" "NOD2_000002" "g.50745926C>T" "6/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "risk factor; 6 heterozygous, no homozygous; {DB:CLININrs2066844}" "Germline" "" "rs2066844" "0" "" "" "g.50712015C>T" "" "VUS" "" "0000649339" "1" "50" "16" "50745929" "50745929" "subst" "0.00328799" "03575" "NOD2_000003" "g.50745929C>T" "1/2785 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs5743277}" "Germline" "" "rs5743277" "0" "" "" "g.50712018C>T" "" "VUS" "" "0000649340" "1" "90" "16" "50756774" "50756774" "subst" "0" "03575" "NOD2_000075" "g.50756774C>T" "161/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "risk factor; 161 heterozygous; {DB:CLININrs5743289}" "Germline" "" "rs5743289" "0" "" "" "g.50722863C>T" "" "pathogenic" "" "0000657859" "0" "50" "16" "50733783" "50733783" "subst" "0" "02326" "NOD2_000084" "g.50733783T>G" "" "" "" "NOD2(NM_022162.1):c.458T>G (p.L153R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50699872T>G" "" "VUS" "" "0000657860" "0" "30" "16" "50745091" "50745091" "subst" "0.000618007" "01943" "NOD2_000056" "g.50745091G>T" "" "" "" "NOD2(NM_022162.1):c.1269G>T (p.V423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50711180G>T" "" "likely benign" "" "0000657861" "0" "50" "16" "50745143" "50745143" "subst" "0.000301785" "01943" "NOD2_000085" "g.50745143G>A" "" "" "" "NOD2(NM_022162.1):c.1321G>A (p.E441K), NOD2(NM_022162.3):c.1321G>A (p.E441K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50711232G>A" "" "VUS" "" "0000657862" "0" "30" "16" "50746086" "50746086" "subst" "0.00245134" "02325" "NOD2_000033" "g.50746086C>T" "" "" "" "NOD2(NM_022162.1):c.2264C>T (p.A755V), NOD2(NM_022162.3):c.2264C>T (p.A755V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50712175C>T" "" "likely benign" "" "0000657863" "0" "30" "16" "50746199" "50746199" "subst" "0.00113429" "02326" "NOD2_000035" "g.50746199G>A" "" "" "" "NOD2(NM_022162.1):c.2377G>A (p.V793M), NOD2(NM_022162.3):c.2377G>A (p.V793M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50712288G>A" "" "likely benign" "" "0000657864" "0" "30" "16" "50756540" "50756540" "subst" "0.000223368" "01943" "NOD2_000086" "g.50756540G>T" "" "" "" "NOD2(NM_022162.1):c.2722G>T (p.G908C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50722629G>T" "" "likely benign" "" "0000657865" "0" "30" "16" "50763781" "50763781" "dup" "0" "01943" "NOD2_000043" "g.50763781dup" "" "" "" "NOD2(NM_001370466.1):c.2938dup (p.(Leu980ProfsTer2)), NOD2(NM_022162.1):c.3019dupC (p.L1007Pfs*2), NOD2(NM_022162.3):c.3019dupC (p.L1007Pfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50729870dup" "" "likely benign" "" "0000669333" "3" "90" "16" "50756774" "50756774" "subst" "0" "03575" "NOD2_000075" "g.50756774C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "risk factor; 2 homozygous; {DB:CLININrs5743289}" "Germline" "" "rs5743289" "0" "" "" "g.50722863C>T" "" "pathogenic" "" "0000680589" "0" "50" "16" "50733392" "50733392" "subst" "0.00230475" "02326" "NOD2_000008" "g.50733392T>A" "" "" "" "NOD2(NM_022162.1):c.74-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680590" "0" "30" "16" "50733595" "50733595" "subst" "1.62533E-5" "01943" "NOD2_000087" "g.50733595C>T" "" "" "" "NOD2(NM_022162.1):c.270C>T (p.D90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680591" "0" "50" "16" "50741844" "50741844" "subst" "8.12117E-6" "02325" "NOD2_000088" "g.50741844C>G" "" "" "" "NOD2(NM_022162.3):c.619C>G (p.P207A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680592" "0" "30" "16" "50744703" "50744703" "subst" "0.00195204" "01943" "NOD2_000083" "g.50744703C>G" "" "" "" "NOD2(NM_022162.1):c.881C>G (p.T294S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680593" "0" "30" "16" "50750842" "50750842" "subst" "0.00133186" "01943" "NOD2_000045" "g.50750842A>G" "" "" "" "NOD2(NM_022162.1):c.2587A>G (p.M863V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684795" "0" "30" "16" "50745233" "50745233" "subst" "0.00145536" "00004" "NOD2_000060" "g.50745233C>T" "frequency 0.030" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.50711322C>T" "" "likely benign" "" "0000692081" "0" "30" "16" "50745466" "50745466" "subst" "2.86331E-5" "01943" "NOD2_000089" "g.50745466G>A" "" "" "" "NOD2(NM_022162.1):c.1644G>A (p.L548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699310" "0" "90" "16" "50744822" "50744822" "subst" "0" "00006" "NOD2_000020" "g.50744822C>T" "" "{PMID:Cordova-Fletes 2020:32597225}" "" "" "" "De novo" "" "rs104895462" "0" "" "" "g.50710911C>T" "" "pathogenic (dominant)" "" "0000699311" "0" "90" "16" "50745360" "50745360" "subst" "0" "00006" "NOD2_000028" "g.50745360T>C" "" "{PMID:Cordova-Fletes 2020:32597225}" "" "" "" "De novo" "" "rs104895473" "0" "" "" "g.50711449T>C" "" "pathogenic (dominant)" "" "0000699312" "0" "50" "16" "50763781" "50763781" "dup" "0" "00006" "NOD2_000043" "g.50763781dup" "" "{PMID:Cordova-Fletes 2020:32597225}" "" "3019dupC" "" "Unknown" "" "" "0" "" "" "g.50729870dup" "" "VUS" "" "0000725819" "0" "50" "16" "50744681" "50744681" "subst" "0.00019532" "01943" "NOD2_000090" "g.50744681C>T" "" "" "" "NOD2(NM_022162.1):c.859C>T (p.H287Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725820" "0" "50" "16" "50744991" "50744991" "subst" "3.24886E-5" "02325" "NOD2_000024" "g.50744991A>T" "" "" "" "NOD2(NM_022162.1):c.1169A>T (p.D390V), NOD2(NM_022162.3):c.1169A>T (p.D390V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725821" "0" "30" "16" "50745016" "50745016" "subst" "0.000276171" "01943" "NOD2_000091" "g.50745016C>T" "" "" "" "NOD2(NM_022162.1):c.1194C>T (p.T398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725822" "0" "30" "16" "50745595" "50745595" "subst" "0" "01943" "NOD2_000092" "g.50745595C>T" "" "" "" "NOD2(NM_022162.1):c.1773C>T (p.V591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725823" "0" "50" "16" "50745868" "50745868" "subst" "0.000424583" "01943" "NOD2_000093" "g.50745868G>T" "" "" "" "NOD2(NM_022162.1):c.2046G>T (p.L682F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725824" "0" "30" "16" "50745991" "50745991" "subst" "0" "01943" "NOD2_000094" "g.50745991G>A" "" "" "" "NOD2(NM_022162.1):c.2169G>A (p.P723=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725825" "0" "30" "16" "50750505" "50750505" "subst" "0.000260048" "01943" "NOD2_000095" "g.50750505G>A" "" "" "" "NOD2(NM_022162.1):c.2470G>A (p.D824N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725826" "0" "50" "16" "50750561" "50750561" "subst" "0" "02329" "NOD2_000096" "g.50750561C>A" "" "" "" "NOD2(NM_022162.3):c.2526C>A (p.C842*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725827" "0" "30" "16" "50756571" "50756571" "subst" "0.000588842" "02325" "NOD2_000081" "g.50756571C>A" "" "" "" "NOD2(NM_022162.1):c.2753C>A (p.A918D), NOD2(NM_022162.3):c.2753C>A (p.A918D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725828" "0" "30" "16" "50756589" "50756589" "subst" "5.68537E-5" "01943" "NOD2_000097" "g.50756589G>A" "" "" "" "NOD2(NM_022162.1):c.2771G>A (p.G924D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807429" "0" "30" "16" "50731225" "50731225" "subst" "0.00012158" "01943" "NOD2_000098" "g.50731225C>T" "" "" "" "NOD2(NM_022162.1):c.71C>T (p.P24L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807430" "0" "30" "16" "50733646" "50733646" "subst" "0" "01943" "NOD2_000099" "g.50733646C>G" "" "" "" "NOD2(NM_022162.1):c.321C>G (p.A107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807431" "0" "50" "16" "50733729" "50733729" "subst" "1.2212E-5" "02325" "NOD2_000100" "g.50733729A>G" "" "" "" "NOD2(NM_022162.3):c.404A>G (p.Q135R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807432" "0" "30" "16" "50745114" "50745114" "subst" "0.000968921" "02325" "NOD2_000058" "g.50745114C>T" "" "" "" "NOD2(NM_022162.1):c.1292C>T (p.S431L), NOD2(NM_022162.3):c.1292C>T (p.S431L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807433" "0" "30" "16" "50745114" "50745114" "subst" "0.000968921" "02326" "NOD2_000058" "g.50745114C>T" "" "" "" "NOD2(NM_022162.1):c.1292C>T (p.S431L), NOD2(NM_022162.3):c.1292C>T (p.S431L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807434" "0" "30" "16" "50746063" "50746063" "subst" "6.50105E-5" "01943" "NOD2_000101" "g.50746063C>T" "" "" "" "NOD2(NM_022162.1):c.2241C>T (p.Y747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807435" "0" "30" "16" "50746199" "50746199" "subst" "0.00113429" "02325" "NOD2_000035" "g.50746199G>A" "" "" "" "NOD2(NM_022162.1):c.2377G>A (p.V793M), NOD2(NM_022162.3):c.2377G>A (p.V793M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807436" "0" "30" "16" "50750810" "50750810" "subst" "0.00116539" "02326" "NOD2_000073" "g.50750810A>G" "" "" "" "NOD2(NM_022162.1):c.2555A>G (p.N852S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854532" "0" "30" "16" "50731161" "50731161" "subst" "6.30287E-6" "01943" "NOD2_000103" "g.50731161G>C" "" "" "" "NOD2(NM_022162.1):c.7G>C (p.E3Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854533" "0" "50" "16" "50744753" "50744753" "subst" "0.000581845" "02325" "NOD2_000053" "g.50744753C>T" "" "" "" "NOD2(NM_022162.1):c.931C>T (p.R311W), NOD2(NM_022162.3):c.931C>T (p.R311W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854534" "0" "30" "16" "50744892" "50744892" "subst" "0.000239598" "02325" "NOD2_000106" "g.50744892A>C" "" "" "" "NOD2(NM_022162.3):c.1070A>C (p.D357A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854535" "0" "50" "16" "50744991" "50744991" "subst" "3.24886E-5" "01943" "NOD2_000024" "g.50744991A>T" "" "" "" "NOD2(NM_022162.1):c.1169A>T (p.D390V), NOD2(NM_022162.3):c.1169A>T (p.D390V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854536" "0" "50" "16" "50750833" "50750833" "subst" "3.24847E-5" "01943" "NOD2_000108" "g.50750833G>A" "" "" "" "NOD2(NM_022162.1):c.2578G>A (p.A860T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854537" "0" "50" "16" "50763760" "50763760" "subst" "4.0619E-6" "01943" "NOD2_000110" "g.50763760G>A" "" "" "" "NOD2(NM_022162.1):c.2998G>A (p.A1000T, p.(Ala1000Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864822" "0" "30" "16" "50731156" "50731156" "subst" "1.90488E-5" "01943" "NOD2_000102" "g.50731156T>C" "" "" "" "NOD2(NM_022162.1):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864823" "0" "50" "16" "50744594" "50744594" "subst" "0" "01943" "NOD2_000104" "g.50744594G>C" "" "" "" "NOD2(NM_022162.1):c.772G>C (p.E258Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864824" "0" "50" "16" "50744858" "50744858" "subst" "1.21872E-5" "01943" "NOD2_000105" "g.50744858C>T" "" "" "" "NOD2(NM_022162.1):c.1036C>T (p.R346W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864825" "0" "50" "16" "50744939" "50744939" "subst" "0.000186802" "01943" "NOD2_000023" "g.50744939C>T" "" "" "" "NOD2(NM_022162.1):c.1117C>T (p.R373C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864826" "0" "30" "16" "50745873" "50745873" "subst" "0.000273686" "01943" "NOD2_000107" "g.50745873G>A" "" "" "" "NOD2(NM_022162.1):c.2051G>A (p.R684Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864827" "0" "50" "16" "50756621" "50756621" "subst" "0" "01943" "NOD2_000109" "g.50756621G>A" "" "" "" "NOD2(NM_022162.1):c.2798+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000878559" "0" "50" "16" "50744940" "50744940" "subst" "4.06081E-6" "00000" "NOD2_000111" "g.50744940G>A" "" "{PMID:Zhang 2019:30882657}" "" "NOD2 c. 1118G>A (p.R373H)" "heterozygous" "De novo" "?" "" "0" "" "" "g.50711029G>A" "" "VUS" "" "0000893024" "0" "30" "16" "50733614" "50733614" "subst" "4.06293E-6" "02326" "NOD2_000112" "g.50733614A>G" "" "" "" "NOD2(NM_022162.1):c.289A>G (p.T97A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893025" "0" "30" "16" "50741792" "50741792" "subst" "0.000397937" "02326" "NOD2_000052" "g.50741792G>A" "" "" "" "NOD2(NM_022162.1):c.567G>A (p.T189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893026" "0" "50" "16" "50744568" "50744568" "subst" "0.000170599" "02326" "NOD2_000016" "g.50744568A>G" "" "" "" "NOD2(NM_022162.1):c.746A>G (p.E249G), NOD2(NM_022162.3):c.746A>G (p.E249G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893027" "0" "30" "16" "50744754" "50744754" "subst" "9.35751E-5" "02326" "NOD2_000113" "g.50744754G>A" "" "" "" "NOD2(NM_022162.1):c.932G>A (p.R311Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893028" "0" "90" "16" "50744969" "50744969" "subst" "0" "02327" "NOD2_000114" "g.50744969G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000893029" "0" "50" "16" "50745117" "50745117" "subst" "0.00016699" "02325" "NOD2_000079" "g.50745117C>T" "" "" "" "NOD2(NM_022162.1):c.1295C>T (p.A432V), NOD2(NM_022162.3):c.1295C>T (p.A432V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893030" "0" "50" "16" "50745143" "50745143" "subst" "0.000301785" "02329" "NOD2_000085" "g.50745143G>A" "" "" "" "NOD2(NM_022162.1):c.1321G>A (p.E441K), NOD2(NM_022162.3):c.1321G>A (p.E441K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893031" "0" "50" "16" "50745731" "50745749" "del" "0" "02325" "NOD2_000115" "g.50745731_50745749del" "" "" "" "NOD2(NM_022162.3):c.1909_1927delAACTCACCAATGGCCAGGC (p.N637Sfs*120)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893032" "0" "50" "16" "50745768" "50745768" "subst" "4.0704E-6" "02325" "NOD2_000116" "g.50745768T>A" "" "" "" "NOD2(NM_022162.3):c.1946T>A (p.I649N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893033" "0" "30" "16" "50745873" "50745873" "subst" "0.000273686" "02326" "NOD2_000107" "g.50745873G>A" "" "" "" "NOD2(NM_022162.1):c.2051G>A (p.R684Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893034" "0" "50" "16" "50746193" "50746193" "subst" "5.72902E-5" "02325" "NOD2_000069" "g.50746193C>T" "" "" "" "NOD2(NM_022162.1):c.2371C>T (p.R791W), NOD2(NM_022162.3):c.2371C>T (p.R791W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893035" "0" "30" "16" "50746194" "50746194" "subst" "0.00156343" "02326" "NOD2_000004" "g.50746194G>A" "" "" "" "NOD2(NM_022162.1):c.2372G>A (p.R791Q), NOD2(NM_022162.3):c.2372G>A (p.R791Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893036" "0" "50" "16" "50750502" "50750502" "subst" "0" "02325" "NOD2_000117" "g.50750502C>T" "" "" "" "NOD2(NM_022162.3):c.2467C>T (p.R823C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893037" "0" "30" "16" "50753917" "50753917" "subst" "2.84377E-5" "02326" "NOD2_000118" "g.50753917G>A" "" "" "" "NOD2(NM_022162.1):c.2712G>A (p.L904=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893038" "0" "30" "16" "50756571" "50756571" "subst" "0.000588842" "02326" "NOD2_000081" "g.50756571C>A" "" "" "" "NOD2(NM_022162.1):c.2753C>A (p.A918D), NOD2(NM_022162.3):c.2753C>A (p.A918D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914635" "0" "30" "16" "50744638" "50744638" "subst" "0.00079083" "02326" "NOD2_000119" "g.50744638C>T" "" "" "" "NOD2(NM_022162.1):c.816C>T (p.S272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914636" "0" "30" "16" "50745968" "50745968" "subst" "2.8584E-5" "02326" "NOD2_000120" "g.50745968C>T" "" "" "" "NOD2(NM_022162.1):c.2146C>T (p.R716C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914637" "0" "30" "16" "50759450" "50759450" "subst" "4.47365E-5" "02325" "NOD2_000121" "g.50759450G>A" "" "" "" "NOD2(NM_022162.3):c.2933G>A (p.G978E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926298" "0" "50" "16" "50744924" "50744924" "subst" "0" "02326" "NOD2_000122" "g.50744924C>T" "" "" "" "NOD2(NM_022162.1):c.1102C>T (p.L368F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926299" "0" "30" "16" "50750826" "50750826" "subst" "0.000503508" "02326" "NOD2_000123" "g.50750826C>T" "" "" "" "NOD2(NM_022162.1):c.2571C>T (p.D857=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930611" "0" "50" "16" "50744568" "50744568" "subst" "0.000170599" "02325" "NOD2_000016" "g.50744568A>G" "" "" "" "NOD2(NM_022162.1):c.746A>G (p.E249G), NOD2(NM_022162.3):c.746A>G (p.E249G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930612" "0" "30" "16" "50745574" "50745574" "subst" "1.22279E-5" "02326" "NOD2_000124" "g.50745574C>T" "" "" "" "NOD2(NM_022162.1):c.1752C>T (p.F584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950675" "0" "30" "16" "50750561" "50750561" "subst" "8.12486E-6" "02326" "NOD2_000125" "g.50750561C>T" "" "" "" "NOD2(NM_022162.1):c.2526C>T (p.C842=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968386" "0" "50" "16" "50745353" "50745353" "subst" "4.07987E-5" "02325" "NOD2_000126" "g.50745353A>G" "" "" "" "NOD2(NM_022162.3):c.1531A>G (p.T511A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981929" "0" "30" "16" "50756540" "50756540" "subst" "0.0112578" "01804" "NOD2_000001" "g.50756540G>C" "" "" "" "NOD2(NM_001370466.1):c.2641G>C (p.(Gly881Arg)), NOD2(NM_022162.1):c.2722G>C (p.G908R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981930" "0" "50" "16" "50763781" "50763781" "dup" "0" "01804" "NOD2_000043" "g.50763781dup" "" "" "" "NOD2(NM_001370466.1):c.2938dup (p.(Leu980ProfsTer2)), NOD2(NM_022162.1):c.3019dupC (p.L1007Pfs*2), NOD2(NM_022162.3):c.3019dupC (p.L1007Pfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002390" "0" "30" "16" "50741805" "50741805" "subst" "0" "01804" "NOD2_000127" "g.50741805G>C" "" "" "" "NOD2(NM_022162.1):c.580G>C (p.(Gly194Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002391" "0" "50" "16" "50745926" "50745926" "subst" "0.0258763" "02327" "NOD2_000002" "g.50745926C>T" "" "" "" "NOD2(NM_001370466.1):c.2023C>T (p.(Arg675Trp)), NOD2(NM_022162.1):c.2104C>T (p.R702W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002392" "0" "30" "16" "50756733" "50756733" "subst" "0" "02327" "NOD2_000128" "g.50756733G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002393" "0" "50" "16" "50757217" "50757217" "subst" "0" "01804" "NOD2_000129" "g.50757217T>A" "" "" "" "NOD2(NM_022162.1):c.2804T>A (p.(Val935Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002394" "0" "50" "16" "50763760" "50763760" "subst" "4.0619E-6" "01804" "NOD2_000110" "g.50763760G>A" "" "" "" "NOD2(NM_022162.1):c.2998G>A (p.A1000T, p.(Ala1000Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026713" "0" "10" "16" "50745655" "50745655" "subst" "0.00981523" "02327" "NOD2_000062" "g.50745655C>T" "" "" "" "NOD2(NM_022162.1):c.1833C>T (p.A611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001041161" "0" "90" "16" "50744823" "50744823" "subst" "0" "02327" "NOD2_000021" "g.50744823G>A" "" "" "" "NOD2(NM_022162.1):c.1001G>A (p.R334Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001041162" "0" "90" "16" "50744970" "50744970" "subst" "0" "02327" "NOD2_000130" "g.50744970A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001041163" "0" "30" "16" "50745996" "50745996" "subst" "0.00312915" "01804" "NOD2_000066" "g.50745996C>G" "" "" "" "NOD2(NM_001370466.1):c.2093C>G (p.(Ala698Gly)), NOD2(NM_022162.1):c.2174C>G (p.A725G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041164" "0" "30" "16" "50746154" "50746154" "subst" "0.000244097" "02327" "NOD2_000131" "g.50746154G>A" "" "" "" "NOD2(NM_022162.3):c.2332G>A (p.E778K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041165" "0" "30" "16" "50746154" "50746154" "subst" "0.000244097" "02325" "NOD2_000131" "g.50746154G>A" "" "" "" "NOD2(NM_022162.3):c.2332G>A (p.E778K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041166" "0" "30" "16" "50750584" "50750584" "subst" "0" "02325" "NOD2_000132" "g.50750584A>G" "" "" "" "NOD2(NM_022162.3):c.2546+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055570" "0" "50" "16" "50741872" "50741872" "subst" "1.62422E-5" "01804" "NOD2_000133" "g.50741872G>A" "" "" "" "NOD2(NM_001370466.1):c.565+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055571" "0" "50" "16" "50745337" "50745337" "del" "0" "01804" "NOD2_000134" "g.50745337del" "" "" "" "NOD2(NM_001370466.1):c.1434del (p.(Ser479Profs*11))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055572" "0" "10" "16" "50745926" "50745926" "subst" "0.0258763" "01804" "NOD2_000002" "g.50745926C>T" "" "" "" "NOD2(NM_001370466.1):c.2023C>T (p.(Arg675Trp)), NOD2(NM_022162.1):c.2104C>T (p.R702W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## 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 NOD2 ## Count = 196 "{{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}}" "0000062304" "00014667" "90" "2104" "0" "2104" "0" "c.2104C>T" "r.(?)" "p.(Arg702Trp)" "" "0000062305" "00014667" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Cys)" "" "0000062306" "00014667" "90" "2722" "0" "2722" "0" "c.2722G>C" "r.(?)" "p.(Gly908Arg)" "" "0000062307" "00014667" "90" "2372" "0" "2372" "0" "c.2372G>A" "r.(?)" "p.(Arg791Gln)" "" "0000169417" "00014667" "00" "743" "0" "743" "0" "c.743T>G" "r.(?)" "p.(Leu248Arg)" "" "0000250731" "00014667" "30" "866" "0" "866" "0" "c.866A>G" "r.(?)" "p.(Asn289Ser)" "" "0000251079" "00014667" "10" "1055" "0" "1055" "0" "c.1055A>G" "r.(?)" "p.(His352Arg)" "" "0000251590" "00014667" "10" "2462" "10" "2462" "10" "c.2462+10A>C" "r.(=)" "p.(=)" "" "0000251591" "00014667" "30" "2799" "-147" "2799" "-147" "c.2799-147del" "r.(=)" "p.(=)" "" "0000251930" "00014667" "30" "2587" "0" "2587" "0" "c.2587A>G" "r.(?)" "p.(Met863Val)" "" "0000252374" "00014667" "50" "1169" "0" "1169" "0" "c.1169A>T" "r.(?)" "p.(Asp390Val)" "" "0000253083" "00014667" "10" "866" "0" "866" "0" "c.866A>G" "r.(?)" "p.(Asn289Ser)" "" "0000255918" "00014667" "50" "746" "0" "746" "0" "c.746A>G" "r.(?)" "p.(Glu249Gly)" "" "0000296513" "00014667" "10" "2863" "0" "2863" "0" "c.2863G>A" "r.(?)" "p.(Val955Ile)" "" "0000296514" "00014667" "10" "3019" "0" "3019" "0" "c.3019dup" "r.(?)" "p.(Leu1007ProfsTer2)" "" "0000296515" "00014667" "30" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Thr189Met)" "" "0000296516" "00014667" "10" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Pro268Ser)" "" "0000300262" "00014667" "30" "-58" "0" "-58" "0" "c.-58T>C" "r.(?)" "p.(=)" "" "0000300263" "00014667" "90" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Arg334Trp)" "" "0000300264" "00014667" "90" "1001" "0" "1001" "0" "c.1001G>A" "r.(?)" "p.(Arg334Gln)" "" "0000300265" "00014667" "50" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000300266" "00014667" "10" "1453" "0" "1453" "0" "c.1453C>T" "r.(?)" "p.(Leu485=)" "" "0000300267" "00014667" "90" "1496" "0" "1496" "0" "c.1496T>A" "r.(?)" "p.(Leu499Gln)" "" "0000300268" "00014667" "50" "1502" "0" "1502" "0" "c.1502T>C" "r.(?)" "p.(Leu501Pro)" "" "0000300269" "00014667" "90" "1538" "0" "1538" "0" "c.1538T>C" "r.(?)" "p.(Met513Thr)" "" "0000300270" "00014667" "10" "1761" "0" "1761" "0" "c.1761T>G" "r.(?)" "p.(Arg587=)" "" "0000300271" "00014667" "30" "2003" "0" "2003" "0" "c.2003C>T" "r.(?)" "p.(Pro668Leu)" "" "0000300272" "00014667" "30" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684Trp)" "" "0000300273" "00014667" "50" "2104" "0" "2104" "0" "c.2104C>T" "r.(?)" "p.(Arg702Trp)" "" "0000300274" "00014667" "10" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Cys)" "" "0000300275" "00014667" "10" "2123" "0" "2123" "0" "c.2123G>A" "r.(?)" "p.(Arg708His)" "" "0000300276" "00014667" "30" "2264" "0" "2264" "0" "c.2264C>T" "r.(?)" "p.(Ala755Val)" "" "0000300277" "00014667" "10" "2369" "0" "2369" "0" "c.2369G>A" "r.(?)" "p.(Arg790Gln)" "" "0000300278" "00014667" "10" "2406" "0" "2406" "0" "c.2406G>T" "r.(?)" "p.(Val802=)" "" "0000300279" "00014667" "50" "2722" "0" "2722" "0" "c.2722G>C" "r.(?)" "p.(Gly908Arg)" "" "0000300280" "00014667" "10" "2863" "0" "2863" "0" "c.2863G>A" "r.(?)" "p.(Val955Ile)" "" "0000300281" "00014667" "10" "2883" "-131" "2883" "-131" "c.2883-131T>A" "r.(=)" "p.(=)" "" "0000300283" "00014667" "10" "534" "0" "534" "0" "c.534C>G" "r.(?)" "p.(Ser178=)" "" "0000300284" "00014667" "30" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Thr189Met)" "" "0000300285" "00014667" "10" "633" "0" "633" "0" "c.633C>T" "r.(?)" "p.(Ala211=)" "" "0000300286" "00014667" "10" "74" "-29" "74" "-29" "c.74-29T>G" "r.(=)" "p.(=)" "" "0000300287" "00014667" "10" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Pro268Ser)" "" "0000304231" "00014667" "30" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Ser47Leu)" "" "0000304232" "00014667" "10" "1761" "0" "1761" "0" "c.1761T>G" "r.(?)" "p.(Arg587=)" "" "0000304233" "00014667" "50" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Glu72Lys)" "" "0000304234" "00014667" "50" "2377" "0" "2377" "0" "c.2377G>A" "r.(?)" "p.(Val793Met)" "" "0000304236" "00014667" "10" "2863" "0" "2863" "0" "c.2863G>A" "r.(?)" "p.(Val955Ile)" "" "0000304237" "00014667" "30" "315" "0" "315" "0" "c.315G>A" "r.(?)" "p.(Ala105=)" "" "0000304238" "00014667" "10" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Ala140Thr)" "" "0000304239" "00014667" "10" "534" "0" "534" "0" "c.534C>G" "r.(?)" "p.(Ser178=)" "" "0000304240" "00014667" "30" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Thr189Met)" "" "0000304241" "00014667" "30" "74" "-7" "74" "-7" "c.74-7T>A" "r.(=)" "p.(=)" "" "0000304242" "00014667" "30" "930" "0" "930" "0" "c.930G>A" "r.(?)" "p.(Gln310=)" "" "0000341581" "00014667" "50" "2264" "0" "2264" "0" "c.2264C>T" "r.(?)" "p.(Ala755Val)" "" "0000405256" "00014667" "00" "2104" "0" "2104" "0" "c.2104C>T" "r.(?)" "p.(Arg702Trp)" "" "0000558326" "00014667" "50" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Ser47Leu)" "" "0000558327" "00014667" "30" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Ser47Leu)" "" "0000558328" "00014667" "30" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Pro125Leu)" "" "0000558329" "00014667" "10" "541" "-3" "541" "-3" "c.541-3T>C" "r.spl?" "p.?" "" "0000558330" "00014667" "30" "567" "0" "567" "0" "c.567G>A" "r.(?)" "p.(Thr189=)" "" "0000558331" "00014667" "50" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Arg311Trp)" "" "0000558332" "00014667" "30" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Arg311Trp)" "" "0000558333" "00014667" "50" "1022" "0" "1022" "0" "c.1022A>C" "r.(?)" "p.(Lys341Thr)" "" "0000558334" "00014667" "50" "1087" "0" "1087" "0" "c.1087A>T" "r.(?)" "p.(Ile363Phe)" "" "0000558335" "00014667" "30" "1269" "0" "1269" "0" "c.1269G>T" "r.(?)" "p.(Val423=)" "" "0000558336" "00014667" "30" "1281" "0" "1281" "0" "c.1281G>C" "r.(?)" "p.(Pro427=)" "" "0000558337" "00014667" "50" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Ser431Leu)" "" "0000558338" "00014667" "10" "1377" "0" "1377" "0" "c.1377C>T" "r.(?)" "p.(Arg459=)" "" "0000558339" "00014667" "10" "1377" "0" "1377" "0" "c.1377C>T" "r.(?)" "p.(Arg459=)" "" "0000558340" "00014667" "30" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Arg471Cys)" "" "0000558341" "00014667" "10" "1788" "0" "1788" "0" "c.1788G>A" "r.(?)" "p.(Thr596=)" "" "0000558342" "00014667" "10" "1833" "0" "1833" "0" "c.1833C>T" "r.(?)" "p.(Ala611=)" "" "0000558343" "00014667" "30" "1833" "0" "1833" "0" "c.1833C>T" "r.(?)" "p.(Ala611=)" "" "0000558344" "00014667" "30" "1996" "0" "1996" "0" "c.1996G>A" "r.(?)" "p.(Ala666Thr)" "" "0000558345" "00014667" "10" "2123" "0" "2123" "0" "c.2123G>A" "r.(?)" "p.(Arg708His)" "" "0000558346" "00014667" "30" "2145" "0" "2145" "0" "c.2145C>T" "r.(?)" "p.(Leu715=)" "" "0000558347" "00014667" "50" "2168" "0" "2168" "0" "c.2168C>T" "r.(?)" "p.(Pro723Leu)" "" "0000558348" "00014667" "50" "2168" "0" "2168" "0" "c.2168C>T" "r.(?)" "p.(Pro723Leu)" "" "0000558349" "00014667" "10" "2174" "0" "2174" "0" "c.2174C>G" "r.(?)" "p.(Ala725Gly)" "" "0000558350" "00014667" "30" "2264" "0" "2264" "0" "c.2264C>T" "r.(?)" "p.(Ala755Val)" "" "0000558352" "00014667" "50" "2273" "0" "2273" "0" "c.2273C>T" "r.(?)" "p.(Ala758Val)" "" "0000558353" "00014667" "50" "2342" "0" "2342" "0" "c.2342C>T" "r.(?)" "p.(Ala781Val)" "" "0000558354" "00014667" "50" "2371" "0" "2371" "0" "c.2371C>T" "r.(?)" "p.(Arg791Trp)" "" "0000558355" "00014667" "30" "2463" "-9" "2463" "-9" "c.2463-9T>A" "r.(=)" "p.(=)" "" "0000558356" "00014667" "50" "2546" "2" "2546" "2" "c.2546+2dup" "r.spl?" "p.?" "" "0000558357" "00014667" "30" "2546" "18" "2546" "18" "c.2546+18G>A" "r.(=)" "p.(=)" "" "0000558358" "00014667" "30" "2555" "0" "2555" "0" "c.2555A>G" "r.(?)" "p.(Asn852Ser)" "" "0000558359" "00014667" "30" "2722" "0" "2722" "0" "c.2722G>C" "r.(?)" "p.(Gly908Arg)" "" "0000558360" "00014667" "50" "2735" "0" "2735" "0" "c.2735G>C" "r.(?)" "p.(Gly912Ala)" "" "0000558363" "00014667" "50" "2828" "0" "2828" "0" "c.2828G>T" "r.(?)" "p.(Gly943Val)" "" "0000558364" "00014667" "30" "3019" "0" "3019" "0" "c.3019dup" "r.(?)" "p.(Leu1007ProfsTer2)" "" "0000616017" "00014667" "30" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Val162Ile)" "" "0000616018" "00014667" "50" "743" "0" "743" "0" "c.743T>G" "r.(?)" "p.(Leu248Arg)" "" "0000616019" "00014667" "50" "1195" "0" "1195" "0" "c.1195G>A" "r.(?)" "p.(Asp399Asn)" "" "0000616020" "00014667" "50" "1295" "0" "1295" "0" "c.1295C>T" "r.(?)" "p.(Ala432Val)" "" "0000616021" "00014667" "30" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713His)" "" "0000616022" "00014667" "50" "2372" "0" "2372" "0" "c.2372G>A" "r.(?)" "p.(Arg791Gln)" "" "0000616023" "00014667" "30" "2406" "0" "2406" "0" "c.2406G>T" "r.(?)" "p.(Val802=)" "" "0000616024" "00014667" "30" "2753" "0" "2753" "0" "c.2753C>A" "r.(?)" "p.(Ala918Asp)" "" "0000649334" "00014667" "50" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138Gln)" "" "0000649335" "00014667" "30" "881" "0" "881" "0" "c.881C>G" "r.(?)" "p.(Thr294Ser)" "" "0000649336" "00014667" "50" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Arg311Trp)" "" "0000649337" "00014667" "30" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Ser431Leu)" "" "0000649338" "00014667" "50" "2104" "0" "2104" "0" "c.2104C>T" "r.(?)" "p.(Arg702Trp)" "" "0000649339" "00014667" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Cys)" "" "0000649340" "00014667" "90" "2798" "158" "2798" "158" "c.2798+158C>T" "r.(=)" "p.(=)" "" "0000657859" "00014667" "50" "458" "0" "458" "0" "c.458T>G" "r.(?)" "p.(Leu153Arg)" "" "0000657860" "00014667" "30" "1269" "0" "1269" "0" "c.1269G>T" "r.(?)" "p.(Val423=)" "" "0000657861" "00014667" "50" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Glu441Lys)" "" "0000657862" "00014667" "30" "2264" "0" "2264" "0" "c.2264C>T" "r.(?)" "p.(Ala755Val)" "" "0000657863" "00014667" "30" "2377" "0" "2377" "0" "c.2377G>A" "r.(?)" "p.(Val793Met)" "" "0000657864" "00014667" "30" "2722" "0" "2722" "0" "c.2722G>T" "r.(?)" "p.(Gly908Cys)" "" "0000657865" "00014667" "30" "3019" "0" "3019" "0" "c.3019dup" "r.(?)" "p.(Leu1007ProfsTer2)" "" "0000669333" "00014667" "90" "2798" "158" "2798" "158" "c.2798+158C>T" "r.(=)" "p.(=)" "" "0000680589" "00014667" "50" "74" "-7" "74" "-7" "c.74-7T>A" "r.(=)" "p.(=)" "" "0000680590" "00014667" "30" "270" "0" "270" "0" "c.270C>T" "r.(?)" "p.(Asp90=)" "" "0000680591" "00014667" "50" "619" "0" "619" "0" "c.619C>G" "r.(?)" "p.(Pro207Ala)" "" "0000680592" "00014667" "30" "881" "0" "881" "0" "c.881C>G" "r.(?)" "p.(Thr294Ser)" "" "0000680593" "00014667" "30" "2587" "0" "2587" "0" "c.2587A>G" "r.(?)" "p.(Met863Val)" "" "0000684795" "00014667" "30" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Arg471Cys)" "" "0000692081" "00014667" "30" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Leu548=)" "" "0000699310" "00014667" "90" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Arg334Trp)" "" "0000699311" "00014667" "90" "1538" "0" "1538" "0" "c.1538T>C" "r.(?)" "p.(Met513Thr)" "" "0000699312" "00014667" "50" "3019" "0" "3019" "0" "c.3019dup" "r.(?)" "p.(Leu1007Profs*2)" "" "0000725819" "00014667" "50" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(His287Tyr)" "" "0000725820" "00014667" "50" "1169" "0" "1169" "0" "c.1169A>T" "r.(?)" "p.(Asp390Val)" "" "0000725821" "00014667" "30" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.(Thr398=)" "" "0000725822" "00014667" "30" "1773" "0" "1773" "0" "c.1773C>T" "r.(?)" "p.(Val591=)" "" "0000725823" "00014667" "50" "2046" "0" "2046" "0" "c.2046G>T" "r.(?)" "p.(Leu682Phe)" "" "0000725824" "00014667" "30" "2169" "0" "2169" "0" "c.2169G>A" "r.(?)" "p.(Pro723=)" "" "0000725825" "00014667" "30" "2470" "0" "2470" "0" "c.2470G>A" "r.(?)" "p.(Asp824Asn)" "" "0000725826" "00014667" "50" "2526" "0" "2526" "0" "c.2526C>A" "r.(?)" "p.(Cys842*)" "" "0000725827" "00014667" "30" "2753" "0" "2753" "0" "c.2753C>A" "r.(?)" "p.(Ala918Asp)" "" "0000725828" "00014667" "30" "2771" "0" "2771" "0" "c.2771G>A" "r.(?)" "p.(Gly924Asp)" "" "0000807429" "00014667" "30" "71" "0" "71" "0" "c.71C>T" "r.(?)" "p.(Pro24Leu)" "" "0000807430" "00014667" "30" "321" "0" "321" "0" "c.321C>G" "r.(?)" "p.(Ala107=)" "" "0000807431" "00014667" "50" "404" "0" "404" "0" "c.404A>G" "r.(?)" "p.(Gln135Arg)" "" "0000807432" "00014667" "30" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Ser431Leu)" "" "0000807433" "00014667" "30" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Ser431Leu)" "" "0000807434" "00014667" "30" "2241" "0" "2241" "0" "c.2241C>T" "r.(?)" "p.(Tyr747=)" "" "0000807435" "00014667" "30" "2377" "0" "2377" "0" "c.2377G>A" "r.(?)" "p.(Val793Met)" "" "0000807436" "00014667" "30" "2555" "0" "2555" "0" "c.2555A>G" "r.(?)" "p.(Asn852Ser)" "" "0000854532" "00014667" "30" "7" "0" "7" "0" "c.7G>C" "r.(?)" "p.(Glu3Gln)" "" "0000854533" "00014667" "50" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Arg311Trp)" "" "0000854534" "00014667" "30" "1070" "0" "1070" "0" "c.1070A>C" "r.(?)" "p.(Asp357Ala)" "" "0000854535" "00014667" "50" "1169" "0" "1169" "0" "c.1169A>T" "r.(?)" "p.(Asp390Val)" "" "0000854536" "00014667" "50" "2578" "0" "2578" "0" "c.2578G>A" "r.(?)" "p.(Ala860Thr)" "" "0000854537" "00014667" "50" "2998" "0" "2998" "0" "c.2998G>A" "r.(?)" "p.(Ala1000Thr)" "" "0000864822" "00014667" "30" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000864823" "00014667" "50" "772" "0" "772" "0" "c.772G>C" "r.(?)" "p.(Glu258Gln)" "" "0000864824" "00014667" "50" "1036" "0" "1036" "0" "c.1036C>T" "r.(?)" "p.(Arg346Trp)" "" "0000864825" "00014667" "50" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000864826" "00014667" "30" "2051" "0" "2051" "0" "c.2051G>A" "r.(?)" "p.(Arg684Gln)" "" "0000864827" "00014667" "50" "2798" "5" "2798" "5" "c.2798+5G>A" "r.spl?" "p.?" "" "0000878559" "00014667" "50" "1118" "0" "1118" "0" "c. 1118G>A" "r.(?)" "p.(Arg373His)" "1" "0000893024" "00014667" "30" "289" "0" "289" "0" "c.289A>G" "r.(?)" "p.(Thr97Ala)" "" "0000893025" "00014667" "30" "567" "0" "567" "0" "c.567G>A" "r.(?)" "p.(Thr189=)" "" "0000893026" "00014667" "50" "746" "0" "746" "0" "c.746A>G" "r.(?)" "p.(Glu249Gly)" "" "0000893027" "00014667" "30" "932" "0" "932" "0" "c.932G>A" "r.(?)" "p.(Arg311Gln)" "" "0000893028" "00014667" "90" "1147" "0" "1147" "0" "c.1147G>C" "r.(?)" "p.(Glu383Gln)" "" "0000893029" "00014667" "50" "1295" "0" "1295" "0" "c.1295C>T" "r.(?)" "p.(Ala432Val)" "" "0000893030" "00014667" "50" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Glu441Lys)" "" "0000893031" "00014667" "50" "1909" "0" "1927" "0" "c.1909_1927del" "r.(?)" "p.(Asn637Serfs*120)" "" "0000893032" "00014667" "50" "1946" "0" "1946" "0" "c.1946T>A" "r.(?)" "p.(Ile649Asn)" "" "0000893033" "00014667" "30" "2051" "0" "2051" "0" "c.2051G>A" "r.(?)" "p.(Arg684Gln)" "" "0000893034" "00014667" "50" "2371" "0" "2371" "0" "c.2371C>T" "r.(?)" "p.(Arg791Trp)" "" "0000893035" "00014667" "30" "2372" "0" "2372" "0" "c.2372G>A" "r.(?)" "p.(Arg791Gln)" "" "0000893036" "00014667" "50" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Arg823Cys)" "" "0000893037" "00014667" "30" "2712" "0" "2712" "0" "c.2712G>A" "r.(?)" "p.(Leu904=)" "" "0000893038" "00014667" "30" "2753" "0" "2753" "0" "c.2753C>A" "r.(?)" "p.(Ala918Asp)" "" "0000914635" "00014667" "30" "816" "0" "816" "0" "c.816C>T" "r.(?)" "p.(Ser272=)" "" "0000914636" "00014667" "30" "2146" "0" "2146" "0" "c.2146C>T" "r.(?)" "p.(Arg716Cys)" "" "0000914637" "00014667" "30" "2933" "0" "2933" "0" "c.2933G>A" "r.(?)" "p.(Gly978Glu)" "" "0000926298" "00014667" "50" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Leu368Phe)" "" "0000926299" "00014667" "30" "2571" "0" "2571" "0" "c.2571C>T" "r.(?)" "p.(Asp857=)" "" "0000930611" "00014667" "50" "746" "0" "746" "0" "c.746A>G" "r.(?)" "p.(Glu249Gly)" "" "0000930612" "00014667" "30" "1752" "0" "1752" "0" "c.1752C>T" "r.(?)" "p.(=)" "" "0000950675" "00014667" "30" "2526" "0" "2526" "0" "c.2526C>T" "r.(?)" "p.(=)" "" "0000968386" "00014667" "50" "1531" "0" "1531" "0" "c.1531A>G" "r.(?)" "p.(Thr511Ala)" "" "0000981929" "00014667" "30" "2722" "0" "2722" "0" "c.2722G>C" "r.(?)" "p.(Gly908Arg)" "" "0000981930" "00014667" "50" "3019" "0" "3019" "0" "c.3019dup" "r.(?)" "p.(Leu1007ProfsTer2)" "" "0001002390" "00014667" "30" "580" "0" "580" "0" "c.580G>C" "r.(?)" "p.(Gly194Arg)" "" "0001002391" "00014667" "50" "2104" "0" "2104" "0" "c.2104C>T" "r.(?)" "p.(Arg702Trp)" "" "0001002392" "00014667" "30" "2798" "117" "2798" "117" "c.2798+117G>A" "r.(=)" "p.(=)" "" "0001002393" "00014667" "50" "2804" "0" "2804" "0" "c.2804T>A" "r.(?)" "p.(Val935Glu)" "" "0001002394" "00014667" "50" "2998" "0" "2998" "0" "c.2998G>A" "r.(?)" "p.(Ala1000Thr)" "" "0001026713" "00014667" "10" "1833" "0" "1833" "0" "c.1833C>T" "r.(?)" "p.(Ala611=)" "" "0001041161" "00014667" "90" "1001" "0" "1001" "0" "c.1001G>A" "r.(?)" "p.(Arg334Gln)" "" "0001041162" "00014667" "90" "1148" "0" "1148" "0" "c.1148A>G" "r.(?)" "p.(Glu383Gly)" "" "0001041163" "00014667" "30" "2174" "0" "2174" "0" "c.2174C>G" "r.(?)" "p.(Ala725Gly)" "" "0001041164" "00014667" "30" "2332" "0" "2332" "0" "c.2332G>A" "r.(?)" "p.(Glu778Lys)" "" "0001041165" "00014667" "30" "2332" "0" "2332" "0" "c.2332G>A" "r.(?)" "p.(Glu778Lys)" "" "0001041166" "00014667" "30" "2546" "3" "2546" "3" "c.2546+3A>G" "r.spl?" "p.?" "" "0001055570" "00014667" "50" "646" "1" "646" "1" "c.646+1G>A" "r.spl?" "p.?" "" "0001055571" "00014667" "50" "1515" "0" "1515" "0" "c.1515del" "r.(?)" "p.(Ser506Profs*11)" "" "0001055572" "00014667" "10" "2104" "0" "2104" "0" "c.2104C>T" "r.(?)" "p.(Arg702Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000035185" "0000062304" "0000035186" "0000062305" "0000035187" "0000062306" "0000035188" "0000062307" "0000104505" "0000169417" "0000181560" "0000405256" "0000292645" "0000649334" "0000292646" "0000649335" "0000292647" "0000649336" "0000292648" "0000649337" "0000292649" "0000649338" "0000292650" "0000649339" "0000292651" "0000649340" "0000305645" "0000669333" "0000309893" "0000684795" "0000317125" "0000699310" "0000317126" "0000699311" "0000317127" "0000699312" "0000418721" "0000878559"