### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NLRP7) # 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}}" "NLRP7" "NLR family, pyrin domain containing 7" "19" "q13.42" "unknown" "NG_008056.1" "UD_132118319206" "" "http://www.LOVD.nl/NLRP7" "" "1" "22947" "199713" "609661" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/NLRP7_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2015-11-17 06:16:50" "00006" "2024-11-11 15:52:38" ## 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}}" "00024076" "NLRP7" "transcript variant 3" "003" "NM_001127255.1" "" "NP_001120727.1" "" "" "" "-76" "3345" "3114" "55458873" "55434877" "00006" "2015-11-17 06:22:57" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00234" "TS14" "Temple syndrome (TS-14, upd(14)mat)" "" "" "" "" "" "00006" "2013-10-09 19:34:25" "00006" "2021-12-11 13:56:28" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01812" "HYDM1" "mole, hydatidiform, recurrent, type 1 (HYDM-1)" "AR" "231090" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "07114" "MLID" "multilocus imprinting disturbances" "" "" "" "" "" "00006" "2024-11-11 09:01:04" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NLRP7" "01812" ## Individuals ## Do not remove or alter this header ## ## Count = 31 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00054739" "" "" "" "1" "" "00764" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "F" "" "Egypt" "" "0" "" "" "" "" "00054740" "" "" "" "1" "" "00764" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "F" "" "France" "" "0" "" "" "white" "" "00054741" "" "" "" "1" "" "00764" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "F" "" "France" "" "0" "" "" "white" "" "00054760" "" "" "" "1" "" "00764" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "F" "?" "Iran" "" "0" "" "" "Persian" "" "00054761" "" "" "" "2" "" "00764" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "2-generation family, affected female with affected sister, unaffected heterozygous carrier parents" "F" "?" "Egypt" "" "0" "" "" "Egyptian" "" "00054762" "" "" "00054761" "1" "" "00764" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "sister" "F" "?" "Egypt" "" "0" "" "" "Egyptian" "" "00054763" "" "" "" "1" "" "00764" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "F" "?" "United States" "" "0" "" "" "white" "" "00054764" "" "" "" "2" "" "00764" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "2-generation family, affected female with affected sister, unaffected heterozygous carrier parents" "F" "?" "Syria" "" "0" "" "" "" "" "00054765" "" "" "" "1" "" "00764" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "F" "?" "Turkey" "" "0" "" "" "" "" "00054766" "" "" "" "3" "" "00764" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "2-generation family, affected female with 2 affected sisters, unaffected heterozygous carrier parents" "F" "?" "Turkey" "" "0" "" "" "" "" "00054767" "" "" "" "2" "" "00764" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "2-generation family, affected female with affected sister, unaffected heterozygous carrier parents" "F" "?" "Iran" "" "0" "" "" "" "" "00054768" "" "" "" "1" "" "00764" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "F" "?" "Mexico" "" "0" "" "" "" "" "00054769" "" "" "" "1" "" "00006" "{PMID:Akoury 2015:25982095}, {DOI:Akoury 2015:10.1016/j.rbmo.2015.03.011}" "2-generation family, unaffected heterozygous carrier parents" "F" "no" "India" ">27y" "0" "" "assisted reproductive technology" "" "" "00054770" "" "" "" "1" "" "00006" "{PMID:Akoury 2015:25982095}, {DOI:Akoury 2015:10.1016/j.rbmo.2015.03.011}" "2-generation family, unaffected heterozygous carrier parents" "F" "" "India" ">27y" "0" "" "assisted reproductive technology" "" "" "00054771" "" "" "" "1" "" "00006" "{PMID:Brown 2013:23722513}, {PMID:Akoury 2015:25982095}, {DOI:Akoury 2015:10.1016/j.rbmo.2015.03.011}" "" "F" "" "" ">24y" "0" "" "-" "Europe;Afro-Caribbean" "" "00054772" "" "" "" "1" "" "00006" "{PMID:Slim 2009:19650864}, {PMID:Akoury 2015:25982095}, {DOI:Akoury 2015:10.1016/j.rbmo.2015.03.011}" "2-generation family, unaffected heterozygous carrier parents" "F" "no" "India" ">30y" "0" "" "-" "" "" "00054773" "" "" "00054766" "1" "" "00764" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "sister 1" "F" "?" "Turkey" "" "0" "" "" "" "" "00054774" "" "" "00054766" "1" "" "00764" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "sister 2" "F" "?" "Turkey" "" "0" "" "" "Turkish" "" "00054775" "" "" "00054767" "1" "" "00764" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "sister" "F" "-" "Iran" "" "0" "" "" "" "" "00054776" "" "" "" "1" "" "00764" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "F" "?" "Mexico" "" "0" "" "" "" "" "00054779" "" "" "00054764" "1" "" "00764" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "sister" "F" "?" "Syria" "" "0" "" "" "" "" "00094948" "" "" "" "1" "" "00663" "" "" "F" "no" "Germany" "" "0" "" "" "" "" "00305554" "" "" "" "1" "" "00663" "" "" "F" "no" "Germany" "" "" "" "" "" "" "00457419" "" "" "" "3" "" "00006" "{PMID:Begemann 2018:29574422}" "mother of affected child" "F" "" "" "" "0" "" "" "" "Fam6" "00457420" "" "" "" "2" "" "00006" "{PMID:Begemann 2018:29574422}" "mother of affected child" "F" "" "" "" "0" "" "" "" "Fam7" "00457421" "" "" "" "2" "" "00006" "{PMID:Begemann 2018:29574422}" "mother of affected child" "F" "" "" "" "0" "" "" "" "Fam8" "00457429" "" "" "00457419" "2" "" "00006" "{PMID:Begemann 2018:29574422}" "sister" "" "" "" "" "0" "" "" "" "Fam6sister" "00457430" "" "" "00457419" "1" "" "00006" "{PMID:Begemann 2018:29574422}" "fetus" "" "" "" "" "0" "" "" "" "Fam6Pat" "00457431" "" "" "00457420" "1" "" "00006" "{PMID:Begemann 2018:29574422}" "daughter" "F" "" "" "" "0" "" "" "" "Fam7Pat" "00457432" "" "" "00457421" "1" "" "00006" "{PMID:Begemann 2018:29574422}" "son" "M" "" "" "" "0" "" "" "" "Fam8Pat" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 31 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00054739" "01812" "00054740" "01812" "00054741" "01812" "00054760" "01812" "00054761" "01812" "00054762" "01812" "00054763" "01812" "00054764" "01812" "00054765" "01812" "00054766" "01812" "00054767" "01812" "00054768" "01812" "00054769" "01812" "00054770" "01812" "00054771" "01812" "00054772" "01812" "00054773" "01812" "00054774" "01812" "00054775" "01812" "00054776" "01812" "00054779" "01812" "00094948" "00198" "00305554" "00234" "00457419" "07114" "00457420" "07114" "00457421" "07114" "00457429" "07114" "00457430" "07114" "00457431" "07114" "00457432" "07114" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00234, 01157, 01812, 07114 ## Count = 30 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000041426" "01812" "00054740" "00764" "Isolated (sporadic)" "" "reproductive outcome spontaneous abortion, 2 hydatidiform moles, complete hydatidiform mole developing into gestational trophoblastic neoplasia" "" "" "" "" "" "" "" "" "" "" "" "0000041427" "01812" "00054741" "00764" "Familial, autosomal recessive" "" "reproductive outcome blighted ovum, followed by 3 complete hydatidiform moles" "" "" "" "" "" "" "" "" "" "" "" "0000041428" "01812" "00054739" "00764" "Isolated (sporadic)" "" "reproductive outcome 3 partial hydatidiform moles, several failed assisted reproductive technologies" "" "" "" "" "" "" "" "" "" "" "" "0000041436" "01812" "00054760" "00764" "Isolated (sporadic)" "" "reproductive outcome 2 hydatidiform moles, 3 failed assisted reproductive technology attempts, spontaneous abortion" "" "" "" "" "" "" "" "" "" "" "" "0000041437" "01812" "00054761" "00764" "Familial, autosomal recessive" "" "reproductive outcome spontaneous abortion, blighted ovum, 4 complete hydatidiform moles" "" "" "" "" "" "" "" "" "" "" "" "0000041438" "01812" "00054762" "00764" "Familial, autosomal recessive" "" "reproductive outcome spontaneous abortion, 4 complete hydatidiform moles" "" "" "" "" "" "" "" "" "" "" "" "0000041439" "01812" "00054764" "00764" "Familial, autosomal recessive" "" "reproductive outcome 4 hydatidiform moles, intra-cytoplasmic sperm injection-hydatidiform mole, intra-cytoplasmic sperm injection-hydatidiform mole" "" "" "" "" "" "" "" "" "" "" "" "0000041440" "01812" "00054765" "00764" "Familial, autosomal recessive" "" "reproductive outcomes hydatidiform mole, spontaneous abortion, hydatidiform mole, partial hydatidiform mole, spontaneous abortion, hydatidiform mole, partial hydatidiform mole" "" "" "" "" "" "" "" "" "" "" "" "0000041441" "01812" "00054766" "00764" "Familial, autosomal recessive" "" "reproductive outcome hydatidiform mole, live birth, hydatidiform mole, live birth" "" "" "" "" "" "" "" "" "" "" "" "0000041442" "01812" "00054767" "00764" "Familial, autosomal recessive" "" "reproductive outcome 3 hydatidiform moles, hydatidiform mole developing into gestational trophoblastic neoplasia, hydatidiform mole" "" "" "" "" "" "" "" "" "" "" "" "0000041443" "01812" "00054768" "00764" "Isolated (sporadic)" "" "reproductive outcomes 3 hydatidiform moles, hydatidiform mole (twins by ultrasound)" "" "" "" "" "" "" "" "" "" "" "" "0000041444" "01812" "00054769" "00006" "Familial, autosomal recessive" "" "one hydatidiform mole gave gestational trophoblastic neoplasia; assisted reproductive technology, received donated ovum unrelated woman, normal singleton pregnancy, normal live birth (boy) delivered by Caesarean section; boy now 5y3min good health" "27y" "" "history 4 hydatidiform moles" "" "" "" "" "" "" "" "" "0000041445" "01812" "00054770" "00006" "Familial, autosomal recessive" "" "assisted reproductive technology, received donated ova for in-vitro fertilization, three embryos transferred, triplet pregnancy, one spontaneously lost, normal live birth twin delivered by Caesarean section; twins now 4y good health" "27y" "" "history 3 hydatidiform moles" "" "" "" "" "" "" "" "" "0000041446" "01812" "00054771" "00006" "Familial, autosomal recessive" "" "one complete mole (gestational trophoblastic neoplasia), one partial mole with embryo and fetal crown rump length compatible with gestational age 7w, molar pregnancy non-viable embryo; spontaneous natural conception; delivery 39.5w gestation, healthy boy (APGAR score 9/9) birth weight 3487g, now 1y good health; histopathological evaluation placenta no abnormalities" "24y" "" "history 3 three pregnancy losses" "" "" "" "" "" "" "" "" "0000041447" "01812" "00054772" "00006" "Familial, autosomal recessive" "" "blighted ovum followed by two hydatidiform moles developing gestational trophoblastic neoplasia; spontaneous conception; anti-epileptic medication during uncomplicated pregnancy, live birth 37.5w gestation (pre-labour rupture membranes, fetus in transverse position) emergency C-section (boy, currently healthy, attends nursery school, normal growth and development; placenta no histopathological abnormalities" "30y" "" "history 3 three pregnancy losses" "" "" "" "" "" "" "" "" "0000041448" "01812" "00054773" "00764" "Familial, autosomal recessive" "" "reproductive outcomes 2 spontaneous abortions, hydatidiform mole, hydatidiform mole (Dip Bip), spontaneous abortions, hydatidiform mole" "" "" "" "" "" "" "" "" "" "" "" "0000041449" "01812" "00054774" "00764" "Familial, autosomal recessive" "" "reproductive outcomes hydatidiform mole, hydatidiform mole (Dip Bip), hydatidiform mole (Dip Bip XY*)" "" "" "" "" "" "" "" "" "" "" "" "0000041451" "01812" "00054775" "00764" "Familial, autosomal recessive" "" "reproductive outcome 3 hydatidiform moles" "" "" "" "" "" "" "" "" "" "" "" "0000041452" "01812" "00054776" "00764" "Isolated (sporadic)" "" "reproductive outcomes hydatidiform mole developing into gestational trophoblastic neoplasia, 2 spontaneous abortions, spontaneous abortion (46,XX), 6 spontaneous abortions, partial hydatidiform mole" "" "" "" "" "" "" "" "" "" "" "" "0000041455" "01812" "00054763" "00764" "Isolated (sporadic)" "" "reproductive outcomes spontaneous abortion (69,XXX), spontaneous abortion (trisomy 9), spontaneous abortion (45,X), spontaneous abortion (69,XXY, digynic)" "" "" "" "" "" "" "" "" "" "" "" "0000041456" "01812" "00054779" "00764" "Familial, autosomal recessive" "" "reproductive outcome 2 hydatidiform moles" "" "" "" "" "" "" "" "" "" "" "" "0000078604" "00198" "00094948" "00663" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000345883" "07114" "00457419" "00006" "Unknown" "" "see paper; ..., two early abortions (gw4 and gw 4), 1 induced abortion (gw 19)" "" "" "" "" "" "" "" "" "" "healthy" "" "0000345884" "07114" "00457420" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "healthy" "" "0000345885" "07114" "00457421" "00006" "Unknown" "" "see paper; ..., 2 healthy children" "" "" "" "" "" "" "" "" "" "healthy" "" "0000345893" "07114" "00457429" "00006" "Unknown" "" "see paper; ..., 1 healthy child (born 26w), 3 early abortions (gw 4, gw 6, gw 7), one ongoing pregnancy (ultrasound normal)" "" "" "" "" "" "" "" "" "" "healthy" "" "0000345894" "07114" "00457430" "00006" "Unknown" "" "see paper; ..., 19w-induced, flat face, retrognathia, omphalocele, shortened humeri, mesenchymal placenta" "" "" "" "" "" "" "" "" "" "Beckwith Wiedemann syndrome (multilocus imprinting disturbances)" "" "0000345895" "07114" "00457431" "00006" "Unknown" "" "see paper; ..., 36w-birth, weight 91st centile; exomphalos, macroglossia, neonatal diabetes, feeding difficulties in infancy, motor/speech delay, duplex kidneys, hemihypertrophy, scoliosis" "" "" "" "" "" "" "" "" "" "Beckwith Wiedemann syndrome/transient neonatal diabetes mellitus (multilocus imprinting disturbances)" "" "0000345896" "07114" "00457432" "00006" "Unknown" "" "see paper; ..., Silver Russell syndrome (NH-CSS 5/6)" "" "" "" "" "" "" "" "" "" "Silver Russell syndrome (multilocus imprinting disturbances)" "" ## Screenings ## Do not remove or alter this header ## ## Count = 32 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000054688" "00054739" "1" "00764" "00764" "2015-11-13 01:42:56" "00764" "2015-11-17 22:06:14" "SEQ" "DNA" "" "" "0000054689" "00054740" "1" "00764" "00764" "2015-11-13 01:57:27" "" "" "SEQ" "DNA" "" "" "0000054690" "00054741" "1" "00764" "00764" "2015-11-13 02:44:00" "" "" "SEQ" "DNA" "" "" "0000054706" "00054760" "1" "00764" "00764" "2015-11-17 20:58:10" "" "" "SEQ" "DNA" "" "" "0000054708" "00054761" "1" "00764" "00764" "2015-11-17 21:04:34" "" "" "SEQ" "DNA" "" "" "0000054709" "00054762" "1" "00764" "00764" "2015-11-17 21:14:13" "" "" "SEQ" "DNA" "" "" "0000054711" "00054763" "1" "00764" "00764" "2015-11-17 21:19:31" "" "" "SEQ" "DNA" "" "" "0000054712" "00054764" "1" "00764" "00764" "2015-11-17 21:27:03" "" "" "SEQ" "DNA" "" "" "0000054713" "00054765" "1" "00764" "00764" "2015-11-17 21:32:11" "" "" "SEQ" "DNA" "" "" "0000054714" "00054766" "1" "00764" "00764" "2015-11-17 21:40:39" "" "" "SEQ" "DNA" "" "" "0000054715" "00054767" "1" "00764" "00764" "2015-11-17 21:47:08" "" "" "SEQ" "DNA" "" "" "0000054716" "00054768" "1" "00764" "00764" "2015-11-17 21:51:34" "" "" "SEQ" "DNA" "" "" "0000054717" "00054769" "1" "00006" "00006" "2015-11-17 23:53:08" "" "" "SEQ" "DNA" "" "" "0000054718" "00054770" "1" "00006" "00006" "2015-11-17 23:53:08" "" "" "SEQ" "DNA" "" "" "0000054719" "00054771" "1" "00006" "00006" "2015-11-17 23:53:08" "" "" "SEQ" "DNA" "" "" "0000054720" "00054772" "1" "00006" "00006" "2015-11-17 23:53:08" "" "" "SEQ" "DNA" "" "" "0000054721" "00054773" "1" "00764" "00764" "2015-11-18 06:46:33" "" "" "SEQ" "DNA" "" "" "0000054722" "00054774" "1" "00764" "00764" "2015-11-18 06:54:35" "" "" "SEQ" "DNA" "" "" "0000054723" "00054775" "1" "00764" "00764" "2015-11-18 07:18:10" "" "" "SEQ" "DNA" "" "" "0000054724" "00054776" "1" "00764" "00764" "2015-11-18 12:25:09" "" "" "SEQ" "DNA" "" "" "0000054727" "00054779" "1" "00764" "00006" "2015-11-20 03:03:16" "" "" "SEQ" "DNA" "" "" "0000095349" "00094948" "1" "00663" "00663" "2017-01-04 14:41:24" "" "" "SEQ-NG" "DNA" "lymphocytes" "" "0000103724" "00094948" "1" "00663" "00663" "2017-04-14 08:59:26" "" "" "SEQ-NG" "DNA" "" "" "0000306683" "00305554" "1" "00663" "00663" "2020-06-29 12:17:10" "" "" "SEQ-NG" "DNA" "lymphocytes" "" "0000459040" "00457419" "1" "00006" "00006" "2024-11-11 15:11:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459041" "00457420" "1" "00006" "00006" "2024-11-11 15:11:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459042" "00457421" "1" "00006" "00006" "2024-11-11 15:11:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459050" "00457429" "1" "00006" "00006" "2024-11-11 15:11:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459051" "00457430" "1" "00006" "00006" "2024-11-11 15:36:28" "" "" "SEQ-NG" "DNA" "" "" "0000459052" "00457431" "1" "00006" "00006" "2024-11-11 15:36:28" "" "" "SEQ-NG" "DNA" "" "" "0000459053" "00457432" "1" "00006" "00006" "2024-11-11 15:36:28" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{geneid}}" "0000054688" "NLRP7" "0000054689" "NLRP7" "0000054690" "NLRP7" "0000054706" "NLRP7" "0000054708" "NLRP7" "0000054709" "NLRP7" "0000054711" "NLRP7" "0000054712" "NLRP7" "0000054713" "NLRP7" "0000054714" "NLRP7" "0000054715" "NLRP7" "0000054716" "NLRP7" "0000054717" "NLRP7" "0000054718" "NLRP7" "0000054719" "NLRP7" "0000054720" "NLRP7" "0000054721" "NLRP7" "0000054722" "NLRP7" "0000054723" "NLRP7" "0000054724" "NLRP7" "0000054727" "NLRP7" "0000095349" "NLRP7" "0000103724" "NLRP7" "0000306683" "NLRP7" ## 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 = 118 "{{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}}" "0000005915" "0" "50" "19" "55450746" "55450746" "subst" "0.0869422" "00037" "NLRP7_000001" "g.55450746C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.54939378C>T" "" "VUS" "" "0000084660" "3" "70" "19" "55450814" "55450815" "del" "0" "00764" "NLRP7_000002" "g.55450814_55450815del" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "1374_1375delAG" "" "Germline" "yes" "" "0" "" "" "g.54939446_54939447del" "" "likely pathogenic" "" "0000084661" "1" "70" "19" "55450282" "55450282" "dup" "0" "00764" "NLRP7_000003" "g.55450282dup" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54938914dup" "" "likely pathogenic" "" "0000084662" "1" "70" "19" "55435242" "55435242" "subst" "4.10055E-6" "00764" "NLRP7_000004" "g.55435242T>C" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54923874T>C" "" "likely pathogenic" "" "0000084680" "3" "70" "19" "55441918" "55441918" "subst" "0" "00764" "NLRP7_000015" "g.55441918C>T" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54930550C>T" "" "likely pathogenic" "" "0000084681" "3" "70" "19" "55441900" "55441900" "subst" "0" "00764" "NLRP7_000014" "g.55441900A>C" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54930532A>C" "" "likely pathogenic" "" "0000084682" "3" "70" "19" "55441900" "55441900" "subst" "0" "00764" "NLRP7_000014" "g.55441900A>C" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54930532A>C" "" "likely pathogenic" "" "0000084683" "1" "70" "19" "55447798" "55447806" "del" "0" "00764" "NLRP7_000027" "g.55447798_55447806del" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54936430_54936438del" "" "likely pathogenic" "" "0000084684" "3" "70" "19" "55446884" "55448102" "del" "0" "00764" "NLRP7_000013" "g.55446884_55448102del" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "2130-266_2300+782del1219" "" "Germline" "yes" "" "0" "" "" "g.54935516_54936734del" "" "likely pathogenic" "" "0000084686" "3" "70" "19" "55448352" "55453392" "del" "0" "00764" "NLRP7_000012" "g.55448352_55453392del" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "-39-231_2130-510del5041" "" "Germline" "yes" "" "0" "" "" "g.54936984_54942024del" "" "likely pathogenic" "" "0000084687" "11" "70" "19" "55448503" "55458609" "del" "0" "00764" "NLRP7_000019" "g.55448503_55458609del" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "-40+251_2130-681del10107" "" "Germline" "yes" "" "0" "" "" "g.54937135_54947241del" "" "likely pathogenic" "" "0000084688" "3" "70" "19" "55448480" "55462808" "del" "0" "00764" "NLRP7_000021" "g.55448480_55462808del" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "-76-3922_2130-668del14329" "" "Germline" "yes" "" "0" "" "" "g.54937112_54951440del" "" "likely pathogenic" "" "0000084689" "21" "70" "19" "55435600" "55472226" "del" "0" "00764" "NLRP7_000026" "g.55435600_55472226del" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "-76-13337_2982-344del36627" "" "Germline" "yes" "" "0" "" "" "g.54924232_54960858del" "" "likely pathogenic" "" "0000084690" "11" "90" "19" "55449463" "55449463" "subst" "4.46661E-5" "00006" "NLRP7_000005" "g.55449463C>G" "" "{PMID:Akoury 2015:25982095}, {DOI:Akoury 2015:10.1016/j.rbmo.2015.03.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54938095C>G" "" "pathogenic" "" "0000084691" "3" "90" "19" "55449463" "55449463" "subst" "4.46661E-5" "00006" "NLRP7_000017" "g.55449463C>G" "" "{PMID:Akoury 2015:25982095}, {DOI:Akoury 2015:10.1016/j.rbmo.2015.03.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54938095C>G" "" "pathogenic" "" "0000084692" "3" "90" "19" "55441939" "55441939" "subst" "0.000121817" "00006" "NLRP7_000007" "g.55441939T>C" "" "{PMID:Akoury 2015:25982095}, {DOI:Akoury 2015:10.1016/j.rbmo.2015.03.011}" "" "" "" "Germline" "yes" "rs104895503" "0" "" "" "g.54930571T>C" "" "pathogenic" "" "0000084693" "1" "90" "19" "55449463" "55449463" "subst" "4.46661E-5" "00006" "NLRP7_000005" "g.55449463C>G" "" "{PMID:Akoury 2015:25982095}, {DOI:Akoury 2015:10.1016/j.rbmo.2015.03.011}" "" "" "origin determined from cloning genomic segment" "Germline" "yes" "" "0" "" "" "g.54938095C>G" "" "pathogenic" "" "0000084694" "21" "90" "19" "55441939" "55441939" "subst" "0.000121817" "00006" "NLRP7_000028" "g.55441939T>C" "" "{PMID:Akoury 2015:25982095}, {DOI:Akoury 2015:10.1016/j.rbmo.2015.03.011}" "" "" "" "Germline" "yes" "rs104895503" "0" "" "" "g.54930571T>C" "" "pathogenic" "" "0000084695" "2" "90" "19" "55441939" "55441939" "subst" "0.000121817" "00006" "NLRP7_000007" "g.55441939T>C" "" "{PMID:Akoury 2015:25982095}, {DOI:Akoury 2015:10.1016/j.rbmo.2015.03.011}" "" "" "origin determined from cloning genomic segment" "Germline" "yes" "rs104895503" "0" "" "" "g.54930571T>C" "" "pathogenic" "" "0000084696" "2" "10" "19" "55441995" "55441995" "subst" "0" "00006" "NLRP7_000006" "g.55441995A=" "" "{PMID:Akoury 2015:25982095}, {DOI:Akoury 2015:10.1016/j.rbmo.2015.03.011}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "-" "rs269951" "0" "" "" "" "" "benign" "" "0000084697" "2" "10" "19" "55441902" "55441902" "subst" "0" "00006" "NLRP7_000008" "g.55441902T=" "" "{PMID:Akoury 2015:25982095}, {DOI:Akoury 2015:10.1016/j.rbmo.2015.03.011}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "-" "rs269950" "0" "" "" "" "" "benign" "" "0000084698" "2" "10" "19" "55441769" "55441769" "subst" "0" "00006" "NLRP7_000009" "g.55441769G=" "" "{PMID:Akoury 2015:25982095}, {DOI:Akoury 2015:10.1016/j.rbmo.2015.03.011}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "-" "rs269949" "0" "" "" "" "" "benign" "" "0000084699" "2" "10" "19" "55441744" "55441744" "subst" "0" "00006" "NLRP7_000010" "g.55441744C=" "" "{PMID:Akoury 2015:25982095}, {DOI:Akoury 2015:10.1016/j.rbmo.2015.03.011}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "-" "rs647845" "0" "" "" "" "" "benign" "" "0000084700" "2" "10" "19" "55441741" "55441741" "subst" "0" "00006" "NLRP7_000011" "g.55441741A=" "" "{PMID:Akoury 2015:25982095}, {DOI:Akoury 2015:10.1016/j.rbmo.2015.03.011}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "-" "rs647844" "0" "" "" "" "" "benign" "" "0000084701" "11" "70" "19" "55448503" "55458609" "del" "0" "00764" "NLRP7_000022" "g.55448503_55458609del" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54937135_54947241del" "" "likely pathogenic" "" "0000084702" "11" "70" "19" "55448503" "55458609" "del" "0" "00764" "NLRP7_000022" "g.55448503_55458609del" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54937135_54947241del" "" "likely pathogenic" "" "0000084703" "3" "70" "19" "55448480" "55462808" "del" "0" "00764" "NLRP7_000021" "g.55448480_55462808del" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "-76-3922_2130-668del14329" "" "Germline" "yes" "" "0" "" "" "g.54937112_54951440del" "" "likely pathogenic" "" "0000084704" "2" "70" "19" "55451235" "55451248" "dup" "0" "00764" "NLRP7_000016" "g.55451235_55451248dup" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "939_952dup14" "" "Germline" "yes" "" "0" "" "" "g.54939867_54939880dup" "" "likely pathogenic" "" "0000084705" "2" "70" "19" "55447768" "55447768" "subst" "5.68731E-5" "00764" "NLRP7_000018" "g.55447768G>A" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54936400G>A" "" "likely pathogenic" "" "0000084706" "21" "70" "19" "55445011" "55445011" "dup" "0" "00764" "NLRP7_000020" "g.55445011dup" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54933643dup" "" "likely pathogenic" "" "0000084707" "11" "70" "19" "55447681" "55447681" "subst" "0.000527996" "00764" "NLRP7_000024" "g.55447681G>C" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54936313G>C" "" "likely pathogenic" "" "0000084708" "21" "70" "19" "55445011" "55445011" "dup" "0" "00764" "NLRP7_000020" "g.55445011dup" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54933643dup" "" "likely pathogenic" "" "0000084709" "21" "70" "19" "55445011" "55445011" "dup" "0" "00764" "NLRP7_000020" "g.55445011dup" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54933643dup" "" "likely pathogenic" "" "0000084710" "1" "70" "19" "55447681" "55447681" "subst" "0.000527996" "00764" "NLRP7_000024" "g.55447681G>C" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54936313G>C" "" "likely pathogenic" "" "0000084711" "2" "70" "19" "55441865" "55441865" "subst" "4.47486E-5" "00764" "NLRP7_000023" "g.55441865A>C" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "p.Arg937_Leu938ins54" "" "Germline" "yes" "" "0" "" "" "g.54930497A>C" "" "likely pathogenic" "" "0000084715" "3" "70" "19" "55446884" "55448102" "del" "0" "00764" "NLRP7_000013" "g.55446884_55448102del" "" "{PMID:Reddy 2016:26956250}, {DOI:Reddy 2016:10.1038/ejhg.2016.9}" "" "2130-266_2300+782del1219" "" "Germline" "yes" "" "0" "" "" "g.54935516_54936734del" "" "likely pathogenic" "" "0000154170" "11" "70" "19" "55449536" "55449537" "del" "0" "00663" "NLRP7_000029" "g.55449536_55449537del" "" "" "" "g.54938162_54938163del" "" "Germline" "-" "" "0" "" "" "g.54938168_54938169del" "" "likely pathogenic" "" "0000168218" "0" "30" "19" "55451613" "55451613" "subst" "0.00181527" "00663" "NLRP7_000030" "g.55451613T>G" "" "" "" "" "" "Germline" "" "rs104895529" "0" "" "" "g.54940245T>G" "" "likely benign" "" "0000248204" "0" "10" "19" "55441995" "55441995" "subst" "0.58683" "02325" "NLRP7_000034" "g.55441995A>G" "" "" "" "NLRP7(NM_001127255.1):c.2682T>C (p.Y894=), NLRP7(NM_001127255.2):c.2682T>C (p.Y894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54930627A>G" "" "benign" "" "0000250907" "0" "10" "19" "55441995" "55441995" "subst" "0.58683" "02326" "NLRP7_000034" "g.55441995A>G" "" "" "" "NLRP7(NM_001127255.1):c.2682T>C (p.Y894=), NLRP7(NM_001127255.2):c.2682T>C (p.Y894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54930627A>G" "" "benign" "" "0000251051" "0" "10" "19" "55451083" "55451083" "subst" "0.00822129" "02326" "NLRP7_000056" "g.55451083A>G" "" "" "" "NLRP7(NM_001127255.1):c.1104T>C (p.I368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54939715A>G" "" "benign" "" "0000251639" "0" "10" "19" "55449406" "55449406" "subst" "0.00909571" "02326" "NLRP7_000045" "g.55449406A>G" "" "" "" "NLRP7(NM_001127255.1):c.2129+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54938038A>G" "" "benign" "" "0000251640" "0" "10" "19" "55452208" "55452208" "del" "0" "02326" "NLRP7_000065" "g.55452208del" "" "" "" "NLRP7(NM_001127255.1):c.352+104delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54940840del" "" "benign" "" "0000296503" "0" "10" "19" "55453134" "55453134" "subst" "0.383608" "02325" "NLRP7_000067" "g.55453134G>A" "" "" "" "NLRP7(NM_001127255.1):c.-39-16C>T, NLRP7(NM_001127255.2):c.-39-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54941766G>A" "" "benign" "" "0000296504" "0" "10" "19" "55441902" "55441902" "subst" "0.587066" "02325" "NLRP7_000033" "g.55441902T>C" "" "" "" "NLRP7(NM_001127255.1):c.2775A>G (p.A925=), NLRP7(NM_001127255.2):c.2775A>G (p.A925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54930534T>C" "" "benign" "" "0000296505" "0" "10" "19" "55451797" "55451797" "subst" "0.34045" "02325" "NLRP7_000063" "g.55451797C>T" "" "" "" "NLRP7(NM_001127255.1):c.390G>A (p.Q130=), NLRP7(NM_001127255.2):c.390G>A (p.Q130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54940429C>T" "" "benign" "" "0000300229" "0" "10" "19" "55453134" "55453134" "subst" "0.383608" "02326" "NLRP7_000067" "g.55453134G>A" "" "" "" "NLRP7(NM_001127255.1):c.-39-16C>T, NLRP7(NM_001127255.2):c.-39-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54941766G>A" "" "benign" "" "0000300230" "0" "10" "19" "55451050" "55451050" "subst" "0.212375" "02326" "NLRP7_000055" "g.55451050C>T" "" "" "" "NLRP7(NM_001127255.1):c.1137G>A (p.K379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54939682C>T" "" "benign" "" "0000300231" "0" "30" "19" "55450956" "55450956" "subst" "2.97051E-5" "02326" "NLRP7_000054" "g.55450956C>T" "" "" "" "NLRP7(NM_001127255.1):c.1231G>A (p.A411T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54939588C>T" "" "likely benign" "" "0000300232" "0" "30" "19" "55450909" "55450909" "subst" "2.87363E-5" "02326" "NLRP7_000053" "g.55450909C>T" "" "" "" "NLRP7(NM_001127255.1):c.1278G>A (p.Q426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54939541C>T" "" "likely benign" "" "0000300233" "0" "10" "19" "55450746" "55450746" "subst" "0.0869422" "02326" "NLRP7_000001" "g.55450746C>T" "" "" "" "NLRP7(NM_001127255.1):c.1441G>A (p.A481T), NLRP7(NM_001127255.2):c.1441G>A (p.A481T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54939378C>T" "" "benign" "" "0000300234" "0" "30" "19" "55450727" "55450727" "subst" "0.0522666" "02326" "NLRP7_000052" "g.55450727C>T" "" "" "" "NLRP7(NM_001127255.1):c.1460G>A (p.G487E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54939359C>T" "" "likely benign" "" "0000300235" "0" "10" "19" "55450696" "55450696" "subst" "0.0429011" "02326" "NLRP7_000051" "g.55450696G>A" "" "" "" "NLRP7(NM_001127255.1):c.1491C>T (p.I497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54939328G>A" "" "benign" "" "0000300236" "0" "10" "19" "55450655" "55450655" "subst" "0.0130888" "02326" "NLRP7_000050" "g.55450655T>C" "" "" "" "NLRP7(NM_001127255.1):c.1532A>G (p.K511R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54939287T>C" "" "benign" "" "0000300237" "0" "10" "19" "55450462" "55450462" "subst" "0.0364609" "02326" "NLRP7_000049" "g.55450462C>A" "" "" "" "NLRP7(NM_001127255.1):c.1725G>T (p.L575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54939094C>A" "" "benign" "" "0000300238" "0" "70" "19" "55449464" "55449464" "subst" "0.000284241" "02326" "NLRP7_000047" "g.55449464G>A" "" "" "" "NLRP7(NM_001127255.1):c.2077C>T (p.R693W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54938096G>A" "" "likely pathogenic" "" "0000300239" "0" "30" "19" "55449446" "55449446" "subst" "0.00348401" "02326" "NLRP7_000046" "g.55449446C>T" "" "" "" "NLRP7(NM_001127255.1):c.2095G>A (p.V699I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54938078C>T" "" "likely benign" "" "0000300240" "0" "30" "19" "55447906" "55447906" "subst" "0" "02326" "NLRP7_000044" "g.55447906T>A" "" "" "" "NLRP7(NM_001127255.1):c.2130-107A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54936538T>A" "" "likely benign" "" "0000300241" "0" "30" "19" "55447772" "55447772" "subst" "0.000105622" "02326" "NLRP7_000043" "g.55447772C>T" "" "" "" "NLRP7(NM_001127255.1):c.2157G>A (p.A719=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54936404C>T" "" "likely benign" "" "0000300242" "0" "10" "19" "55447617" "55447617" "subst" "0.00107703" "02326" "NLRP7_000042" "g.55447617C>T" "" "" "" "NLRP7(NM_001127255.1):c.2300+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54936249C>T" "" "benign" "" "0000300243" "0" "10" "19" "55447612" "55447612" "subst" "0.216137" "02326" "NLRP7_000041" "g.55447612G>T" "" "" "" "NLRP7(NM_001127255.1):c.2300+17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54936244G>T" "" "benign" "" "0000300244" "0" "30" "19" "55446095" "55446095" "del" "0" "02326" "NLRP7_000040" "g.55446095del" "" "" "" "NLRP7(NM_001127255.1):c.2301-58delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54934727del" "" "likely benign" "" "0000300245" "0" "10" "19" "55446003" "55446003" "subst" "0.00430029" "02326" "NLRP7_000039" "g.55446003C>T" "" "" "" "NLRP7(NM_001127255.1):c.2325G>A (p.P775=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54934635C>T" "" "benign" "" "0000300246" "0" "10" "19" "55445728" "55445728" "subst" "0" "02326" "NLRP7_000036" "g.55445728C>T" "" "" "" "NLRP7(NM_001127255.1):c.2471+129G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54934360C>T" "" "benign" "" "0000300247" "0" "30" "19" "55445775" "55445776" "ins" "0" "02326" "NLRP7_000038" "g.55445775_55445776insC" "" "" "" "NLRP7(NM_001127255.1):c.2471+81_2471+82insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54934407_54934408insC" "" "likely benign" "" "0000300249" "0" "10" "19" "55444920" "55444921" "del" "0" "02326" "NLRP7_000035" "g.55444920_55444921del" "" "" "" "NLRP7(NM_001127255.1):c.2642+29_2642+30delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54933552_54933553del" "" "benign" "" "0000300250" "0" "10" "19" "55441902" "55441902" "subst" "0.587066" "02326" "NLRP7_000033" "g.55441902T>C" "" "" "" "NLRP7(NM_001127255.1):c.2775A>G (p.A925=), NLRP7(NM_001127255.2):c.2775A>G (p.A925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54930534T>C" "" "benign" "" "0000300251" "0" "30" "19" "55452385" "55452385" "subst" "0.000394037" "02326" "NLRP7_000066" "g.55452385T>G" "" "" "" "NLRP7(NM_001127255.1):c.278-12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54941017T>G" "" "likely benign" "" "0000300252" "0" "10" "19" "55438944" "55438944" "subst" "0" "02326" "NLRP7_000032" "g.55438944C>A" "" "" "" "NLRP7(NM_001127255.1):c.2981+29G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54927576C>A" "" "benign" "" "0000300253" "0" "10" "19" "55435140" "55435140" "subst" "0.00585904" "02326" "NLRP7_000031" "g.55435140T>C" "" "" "" "NLRP7(NM_001127255.1):c.3082A>G (p.T1028A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54923772T>C" "" "benign" "" "0000300254" "0" "10" "19" "55452207" "55452208" "del" "0" "02326" "NLRP7_000064" "g.55452207_55452208del" "" "" "" "NLRP7(NM_001127255.1):c.352+103_352+104delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54940839_54940840del" "" "benign" "" "0000300255" "0" "10" "19" "55451797" "55451797" "subst" "0.34045" "02326" "NLRP7_000063" "g.55451797C>T" "" "" "" "NLRP7(NM_001127255.1):c.390G>A (p.Q130=), NLRP7(NM_001127255.2):c.390G>A (p.Q130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54940429C>T" "" "benign" "" "0000300256" "0" "10" "19" "55451720" "55451720" "subst" "0.00728463" "02326" "NLRP7_000062" "g.55451720C>T" "" "" "" "NLRP7(NM_001127255.1):c.467G>A (p.R156Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54940352C>T" "" "benign" "" "0000300257" "0" "30" "19" "55451656" "55451656" "subst" "5.68482E-5" "02326" "NLRP7_000061" "g.55451656G>A" "" "" "" "NLRP7(NM_001127255.1):c.531C>T (p.H177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54940288G>A" "" "likely benign" "" "0000300258" "0" "30" "19" "55451613" "55451613" "subst" "0.00181527" "02326" "NLRP7_000030" "g.55451613T>G" "" "" "" "NLRP7(NM_001127255.1):c.574A>C (p.M192L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54940245T>G" "" "likely benign" "" "0000300259" "0" "30" "19" "55451258" "55451258" "subst" "0.01407" "02326" "NLRP7_000060" "g.55451258T>C" "" "" "" "NLRP7(NM_001127255.1):c.929A>G (p.Q310R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54939890T>C" "" "likely benign" "" "0000300260" "0" "10" "19" "55451256" "55451256" "subst" "0.0140732" "02326" "NLRP7_000058" "g.55451256G>T" "" "" "" "NLRP7(NM_001127255.1):c.931C>A (p.L311I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54939888G>T" "" "benign" "" "0000300261" "0" "10" "19" "55451232" "55451232" "subst" "0.24044" "02326" "NLRP7_000057" "g.55451232C>T" "" "" "" "NLRP7(NM_001127255.1):c.955G>A (p.V319I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54939864C>T" "" "benign" "" "0000304220" "0" "30" "19" "55449589" "55449589" "subst" "2.84276E-5" "01943" "NLRP7_000048" "g.55449589G>A" "" "" "" "NLRP7(NM_001127255.1):c.1952C>T (p.P651L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54938221G>A" "" "likely benign" "" "0000304221" "0" "30" "19" "55451656" "55451656" "subst" "5.68482E-5" "01943" "NLRP7_000061" "g.55451656G>A" "" "" "" "NLRP7(NM_001127255.1):c.531C>T (p.H177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54940288G>A" "" "likely benign" "" "0000304222" "0" "30" "19" "55451257" "55451257" "subst" "0.00171439" "01943" "NLRP7_000059" "g.55451257C>A" "" "" "" "NLRP7(NM_001127255.1):c.930G>T (p.Q310H), NLRP7(NM_001127255.2):c.930G>T (p.Q310H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54939889C>A" "" "likely benign" "" "0000568432" "0" "30" "19" "55435200" "55435200" "subst" "4.09393E-5" "01943" "NLRP7_000068" "g.55435200A>G" "" "" "" "NLRP7(NM_001127255.1):c.3022T>C (p.L1008=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54923832A>G" "" "likely benign" "" "0000568433" "0" "10" "19" "55445777" "55445777" "dup" "0" "02326" "NLRP7_000069" "g.55445777dup" "" "" "" "NLRP7(NM_001127255.1):c.2471+80dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54934409dup" "" "benign" "" "0000568434" "0" "30" "19" "55445944" "55445944" "subst" "0.000268014" "02326" "NLRP7_000070" "g.55445944C>T" "" "" "" "NLRP7(NM_001127255.1):c.2384G>A (p.R795H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54934576C>T" "" "likely benign" "" "0000568435" "0" "30" "19" "55447773" "55447773" "subst" "0.0010522" "02326" "NLRP7_000071" "g.55447773G>A" "" "" "" "NLRP7(NM_001127255.1):c.2156C>T (p.A719V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54936405G>A" "" "likely benign" "" "0000568436" "0" "10" "19" "55449446" "55449446" "subst" "0.00348401" "01943" "NLRP7_000046" "g.55449446C>T" "" "" "" "NLRP7(NM_001127255.1):c.2095G>A (p.V699I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54938078C>T" "" "benign" "" "0000568437" "0" "30" "19" "55449447" "55449447" "subst" "0.00248918" "01943" "NLRP7_000072" "g.55449447G>A" "" "" "" "NLRP7(NM_001127255.1):c.2094C>T (p.H698=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54938079G>A" "" "likely benign" "" "0000568438" "0" "30" "19" "55449447" "55449447" "subst" "0.00248918" "02326" "NLRP7_000072" "g.55449447G>A" "" "" "" "NLRP7(NM_001127255.1):c.2094C>T (p.H698=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54938079G>A" "" "likely benign" "" "0000568439" "0" "30" "19" "55449589" "55449589" "subst" "2.84276E-5" "02326" "NLRP7_000048" "g.55449589G>A" "" "" "" "NLRP7(NM_001127255.1):c.1952C>T (p.P651L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54938221G>A" "" "likely benign" "" "0000568440" "0" "30" "19" "55450435" "55450435" "subst" "0.000755275" "02326" "NLRP7_000073" "g.55450435C>T" "" "" "" "NLRP7(NM_001127255.1):c.1752G>A (p.A584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54939067C>T" "" "likely benign" "" "0000568441" "0" "30" "19" "55450444" "55450444" "subst" "4.06055E-6" "01943" "NLRP7_000074" "g.55450444C>T" "" "" "" "NLRP7(NM_001127255.1):c.1743G>A (p.E581=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54939076C>T" "" "likely benign" "" "0000568442" "0" "50" "19" "55450959" "55450959" "subst" "0" "01943" "NLRP7_000075" "g.55450959C>A" "" "" "" "NLRP7(NM_001127255.1):c.1228G>T (p.G410C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54939591C>A" "" "VUS" "" "0000568443" "0" "50" "19" "55451083" "55451083" "subst" "0.000473434" "01943" "NLRP7_000076" "g.55451083A>C" "" "" "" "NLRP7(NM_001127255.1):c.1104T>G (p.I368M), NLRP7(NM_001127255.2):c.1104T>G (p.I368M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54939715A>C" "" "VUS" "" "0000568446" "0" "50" "19" "55451438" "55451438" "subst" "0.000471043" "02325" "NLRP7_000077" "g.55451438A>C" "" "" "" "NLRP7(NM_001127255.2):c.749T>G (p.F250C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54940070A>C" "" "VUS" "" "0000568447" "0" "30" "19" "55451613" "55451613" "subst" "0.00181527" "01943" "NLRP7_000030" "g.55451613T>G" "" "" "" "NLRP7(NM_001127255.1):c.574A>C (p.M192L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54940245T>G" "" "likely benign" "" "0000568448" "0" "30" "19" "55452829" "55452829" "subst" "0.000406174" "01943" "NLRP7_000078" "g.55452829C>T" "" "" "" "NLRP7(NM_001127255.1):c.251G>A (p.C84Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54941461C>T" "" "likely benign" "" "0000568449" "0" "30" "19" "55452999" "55452999" "subst" "0" "02326" "NLRP7_000079" "g.55452999G>C" "" "" "" "NLRP7(NM_001127255.1):c.81C>G (p.S27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54941631G>C" "" "likely benign" "" "0000617867" "0" "30" "19" "55451257" "55451257" "subst" "0.00171439" "02325" "NLRP7_000059" "g.55451257C>A" "" "" "" "NLRP7(NM_001127255.1):c.930G>T (p.Q310H), NLRP7(NM_001127255.2):c.930G>T (p.Q310H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54939889C>A" "" "likely benign" "" "0000624087" "0" "10" "19" "55450746" "55450746" "subst" "0.0869422" "02325" "NLRP7_000001" "g.55450746C>T" "" "" "" "NLRP7(NM_001127255.1):c.1441G>A (p.A481T), NLRP7(NM_001127255.2):c.1441G>A (p.A481T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54939378C>T" "" "benign" "" "0000624088" "0" "50" "19" "55451083" "55451083" "subst" "0.000473434" "02325" "NLRP7_000076" "g.55451083A>C" "" "" "" "NLRP7(NM_001127255.1):c.1104T>G (p.I368M), NLRP7(NM_001127255.2):c.1104T>G (p.I368M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54939715A>C" "" "VUS" "" "0000670375" "0" "50" "19" "55450600" "55450600" "subst" "4.06078E-6" "00663" "NLRP7_000083" "g.55450600C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "rs746360182" "0" "" "" "g.54939232C>A" "" "VUS" "ACMG" "0000809051" "0" "30" "19" "55441889" "55441889" "subst" "0.000162459" "01943" "NLRP7_000080" "g.55441889T>A" "" "" "" "NLRP7(NM_001127255.1):c.2788A>T (p.N930Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809052" "0" "50" "19" "55449589" "55449589" "subst" "2.84276E-5" "02327" "NLRP7_000048" "g.55449589G>A" "" "" "" "NLRP7(NM_001127255.1):c.1952C>T (p.P651L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895128" "0" "30" "19" "55452383" "55452383" "subst" "0" "02326" "NLRP7_000081" "g.55452383A>G" "" "" "" "NLRP7(NM_001127255.1):c.278-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983653" "0" "90" "19" "55445856" "55445856" "subst" "5.68482E-5" "02327" "NLRP7_000082" "g.55445856C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983654" "0" "90" "19" "55449464" "55449464" "subst" "0.000284241" "02327" "NLRP7_000047" "g.55449464G>A" "" "" "" "NLRP7(NM_001127255.1):c.2077C>T (p.R693W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001005132" "0" "50" "19" "55450771" "55450771" "subst" "1.62521E-5" "01804" "NLRP7_000084" "g.55450771C>A" "" "" "" "NLRP7(NM_001127255.1):c.1416G>T (p.(Gln472His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005133" "0" "50" "19" "55453079" "55453080" "del" "0" "01804" "NLRP7_000085" "g.55453079_55453080del" "" "" "" "NLRP7(NM_001127255.1):c.1_2delAT (p.(Met1fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016751" "21" "50" "19" "55447768" "55447768" "subst" "5.68731E-5" "00006" "NLRP7_000018" "g.55447768G>A" "" "{PMID:Begemann 2018:29574422}" "" "" "variant may affect embryonic imprinting" "Germline/De novo (untested)" "" "rs104895525" "0" "normal epigenotype" "" "g.54936400G>A" "" "VUS (!)" "" "0001016752" "1" "90" "19" "55451438" "55451438" "subst" "0.000471043" "00006" "NLRP7_000077" "g.55451438A>C" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline/De novo (untested)" "" "rs78096121" "0" "normal epigenotype" "" "g.54940070A>C" "" "pathogenic (!)" "" "0001016753" "1" "90" "19" "55447773" "55447773" "subst" "0.0010522" "00006" "NLRP7_000071" "g.55447773G>A" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline/De novo (untested)" "" "rs104895526" "0" "normal epigenotype" "" "g.54936405G>A" "" "pathogenic (!)" "" "0001016761" "21" "50" "19" "55447768" "55447768" "subst" "5.68731E-5" "00006" "NLRP7_000018" "g.55447768G>A" "" "{PMID:Begemann 2018:29574422}" "" "" "variant may affect embryonic imprinting" "Germline/De novo (untested)" "" "" "0" "normal epigenotype" "" "g.54936400G>A" "" "VUS (!)" "" "0001016762" "21" "90" "19" "55447768" "55447768" "subst" "5.68731E-5" "00006" "NLRP7_000018" "g.55447768G>A" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline" "" "" "0" "" "" "g.54936400G>A" "" "pathogenic (!)" "" "0001016763" "21" "90" "19" "55451438" "55451438" "subst" "0.000471043" "00006" "NLRP7_000077" "g.55451438A>C" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline" "" "rs78096121" "0" "" "" "g.54940070A>C" "" "pathogenic (!)" "" "0001016764" "21" "90" "19" "55447773" "55447773" "subst" "0.0010522" "00006" "NLRP7_000071" "g.55447773G>A" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline" "" "" "0" "" "" "g.54936405G>A" "" "pathogenic (!)" "" "0001016772" "10" "50" "19" "55445006" "55445006" "subst" "6.90294E-5" "00006" "NLRP7_000086" "g.55445006A>G" "" "{PMID:Begemann 2018:29574422}" "" "" "variant may affect embryonic imprinting" "Germline" "" "" "0" "multilocus imprinting disturbances; hypomethylation GRB10, MEST, KCNQ1OT1" "" "g.54933638A>G" "" "VUS (!)" "" "0001016773" "10" "50" "19" "55445006" "55445006" "subst" "6.90294E-5" "00006" "NLRP7_000086" "g.55445006A>G" "" "{PMID:Begemann 2018:29574422}" "" "" "variant may affect embryonic imprinting" "Germline" "" "rs776102152" "0" "multilocus imprinting disturbances; hypomethylation GRB10, MEST, KCNQ1OT1" "" "g.54933638A>G" "" "VUS (!)" "" "0001016774" "2" "90" "19" "55451083" "55451083" "subst" "0.000473434" "00006" "NLRP7_000076" "g.55451083A>C" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline/De novo (untested)" "" "rs1654636" "0" "normal epigenotype" "" "g.54939715A>C" "" "pathogenic (!)" "" ## 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 NLRP7 ## Count = 118 "{{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}}" "0000005915" "00024076" "50" "1441" "0" "1441" "0" "c.1441G>A" "r.(?)" "p.(Ala481Thr)" "4" "0000084660" "00024076" "70" "1374" "0" "1375" "0" "c.1374_1375del" "r.(?)" "p.(Arg458Serfs*69)" "4" "0000084661" "00024076" "70" "1908" "0" "1908" "0" "c.1908dup" "r.(?)" "p.(Glu637*)" "4" "0000084662" "00024076" "70" "2982" "-2" "2982" "-2" "c.2982-2A>G" "r.spl?" "p.?" "10i" "0000084680" "00024076" "70" "2759" "0" "2759" "0" "c.2759G>A" "r.(?)" "p.(Trp920*)" "9" "0000084681" "00024076" "70" "2777" "0" "2777" "0" "c.2777T>G" "r.(?)" "p.(Leu926*)" "9" "0000084682" "00024076" "70" "2777" "0" "2777" "0" "c.2777T>G" "r.(?)" "p.(Leu926*)" "9" "0000084683" "00024076" "70" "2130" "-6" "2132" "0" "c.2130-6_2132del" "r.spl" "p.?" "5i_6" "0000084684" "00024076" "70" "2130" "-266" "2300" "782" "c.2130-266_2300+782del" "r.(del)" "p.(Ile711_Arg767del)" "5i_6i" "0000084686" "00024076" "70" "-39" "-231" "2130" "-510" "c.-39-231_2130-510del" "r.0?" "p.0?" "1i_5i" "0000084687" "00024076" "70" "-40" "251" "2130" "-681" "c.-40+251_2130-681del" "r.?" "p.?" "1i_5i" "0000084688" "00024076" "70" "-3998" "0" "2130" "-668" "c.-3998_2130-668del" "r.0?" "p.0?" "_1_5i" "0000084689" "00024076" "70" "-13413" "0" "2982" "-344" "c.-13413_2982-344del" "r.(=)" "p.(=)" "_1_10i" "0000084690" "00024076" "90" "2078" "0" "2078" "0" "c.2078G>C" "r.(?)" "p.(Arg693Pro)" "5" "0000084691" "00024076" "90" "2078" "0" "2078" "0" "c.2078G>C" "r.(?)" "p.(Arg693Pro)" "5" "0000084692" "00024076" "90" "2738" "0" "2738" "0" "c.2738A>G" "r.(?)" "p.(Asn913Ser)" "9" "0000084693" "00024076" "90" "2078" "0" "2078" "0" "c.2078G>C" "r.(?)" "p.(Arg693Pro)" "5" "0000084694" "00024076" "90" "2738" "0" "2738" "0" "c.2738A>G" "r.(?)" "p.(Asn913Ser)" "9" "0000084695" "00024076" "90" "2738" "0" "2738" "0" "c.2738A>G" "r.(?)" "p.(Asn913Ser)" "9" "0000084696" "00024076" "10" "2682" "0" "2682" "0" "c.2682T=" "r.(?)" "p.(=)" "9" "0000084697" "00024076" "10" "2775" "0" "2775" "0" "c.2775A=" "r.(?)" "p.(=)" "9" "0000084698" "00024076" "10" "2810" "98" "2810" "98" "c.2810+98C=" "r.(?)" "p.(=)" "9i" "0000084699" "00024076" "10" "2810" "123" "2810" "123" "c.2810+123G=" "r.(?)" "p.(=)" "9i" "0000084700" "00024076" "10" "2810" "126" "2810" "126" "c.2810+126T=" "r.(?)" "p.(=)" "9i" "0000084701" "00024076" "70" "-40" "251" "2130" "-681" "c.-40+251_2130-681del" "r.?" "p.?" "1i_5i" "0000084702" "00024076" "70" "-40" "251" "2130" "-681" "c.-40+251_2130-681del" "r.?" "p.?" "1i_5i" "0000084703" "00024076" "70" "-3998" "0" "2130" "-668" "c.-3998_2130-668del" "r.0?" "p.0?" "_1_10i" "0000084704" "00024076" "70" "939" "0" "952" "0" "c.939_952dup" "r.(?)" "p.(Tyr318Cysfs*7)" "4" "0000084705" "00024076" "70" "2161" "0" "2161" "0" "c.2161C>T" "r.(?)" "p.(Arg721Trp)" "6" "0000084706" "00024076" "70" "2571" "0" "2571" "0" "c.2571dup" "r.(?)" "p.(Ile858Hisfs*11)" "8" "0000084707" "00024076" "70" "2248" "0" "2248" "0" "c.2248C>G" "r.(?)" "p.(Leu750Val)" "6" "0000084708" "00024076" "70" "2571" "0" "2571" "0" "c.2571dup" "r.(?)" "p.(Ile858Hisfs*11)" "8" "0000084709" "00024076" "70" "2571" "0" "2571" "0" "c.2571dup" "r.(?)" "p.(Ile858Hisfs*11)" "8" "0000084710" "00024076" "70" "2248" "0" "2248" "0" "c.2248C>G" "r.(?)" "p.(Leu750Val)" "6" "0000084711" "00024076" "70" "2810" "2" "2810" "2" "c.2810+2T>G" "r.spl?" "p.?" "8" "0000084715" "00024076" "70" "2130" "-266" "2300" "782" "c.2130-266_2300+782del" "r.(del)" "p.(Ile711_Arg767del)" "5i_6i" "0000154170" "00024076" "70" "2010" "0" "2011" "0" "c.2010_2011del" "r.(?)" "p.(Phe671Glnfs*18)" "5" "0000168218" "00024076" "30" "574" "0" "574" "0" "c.574A>C" "r.(574a>c)" "p.(Met192Leu)" "4" "0000248204" "00024076" "10" "2682" "0" "2682" "0" "c.2682T>C" "r.(?)" "p.(Tyr894=)" "" "0000250907" "00024076" "10" "2682" "0" "2682" "0" "c.2682T>C" "r.(?)" "p.(Tyr894=)" "" "0000251051" "00024076" "10" "1104" "0" "1104" "0" "c.1104T>C" "r.(?)" "p.(Ile368=)" "" "0000251639" "00024076" "10" "2129" "6" "2129" "6" "c.2129+6T>C" "r.(=)" "p.(=)" "" "0000251640" "00024076" "10" "352" "104" "352" "104" "c.352+104del" "r.(=)" "p.(=)" "" "0000296503" "00024076" "10" "-39" "-16" "-39" "-16" "c.-39-16C>T" "r.(=)" "p.(=)" "" "0000296504" "00024076" "10" "2775" "0" "2775" "0" "c.2775A>G" "r.(?)" "p.(Ala925=)" "" "0000296505" "00024076" "10" "390" "0" "390" "0" "c.390G>A" "r.(?)" "p.(Gln130=)" "" "0000300229" "00024076" "10" "-39" "-16" "-39" "-16" "c.-39-16C>T" "r.(=)" "p.(=)" "" "0000300230" "00024076" "10" "1137" "0" "1137" "0" "c.1137G>A" "r.(?)" "p.(Lys379=)" "" "0000300231" "00024076" "30" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Ala411Thr)" "" "0000300232" "00024076" "30" "1278" "0" "1278" "0" "c.1278G>A" "r.(?)" "p.(Gln426=)" "" "0000300233" "00024076" "10" "1441" "0" "1441" "0" "c.1441G>A" "r.(?)" "p.(Ala481Thr)" "" "0000300234" "00024076" "30" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Gly487Glu)" "" "0000300235" "00024076" "10" "1491" "0" "1491" "0" "c.1491C>T" "r.(?)" "p.(Ile497=)" "" "0000300236" "00024076" "10" "1532" "0" "1532" "0" "c.1532A>G" "r.(?)" "p.(Lys511Arg)" "" "0000300237" "00024076" "10" "1725" "0" "1725" "0" "c.1725G>T" "r.(?)" "p.(Leu575=)" "" "0000300238" "00024076" "70" "2077" "0" "2077" "0" "c.2077C>T" "r.(?)" "p.(Arg693Trp)" "" "0000300239" "00024076" "30" "2095" "0" "2095" "0" "c.2095G>A" "r.(?)" "p.(Val699Ile)" "" "0000300240" "00024076" "30" "2130" "-107" "2130" "-107" "c.2130-107A>T" "r.(=)" "p.(=)" "" "0000300241" "00024076" "30" "2157" "0" "2157" "0" "c.2157G>A" "r.(?)" "p.(Ala719=)" "" "0000300242" "00024076" "10" "2300" "12" "2300" "12" "c.2300+12G>A" "r.(=)" "p.(=)" "" "0000300243" "00024076" "10" "2300" "17" "2300" "17" "c.2300+17C>A" "r.(=)" "p.(=)" "" "0000300244" "00024076" "30" "2301" "-58" "2301" "-58" "c.2301-58del" "r.(=)" "p.(=)" "" "0000300245" "00024076" "10" "2325" "0" "2325" "0" "c.2325G>A" "r.(?)" "p.(Pro775=)" "" "0000300246" "00024076" "10" "2471" "129" "2471" "129" "c.2471+129G>A" "r.(=)" "p.(=)" "" "0000300247" "00024076" "30" "2471" "81" "2471" "82" "c.2471+81_2471+82insG" "r.(=)" "p.(=)" "" "0000300249" "00024076" "10" "2642" "29" "2642" "30" "c.2642+29_2642+30del" "r.(=)" "p.(=)" "" "0000300250" "00024076" "10" "2775" "0" "2775" "0" "c.2775A>G" "r.(?)" "p.(Ala925=)" "" "0000300251" "00024076" "30" "278" "-12" "278" "-12" "c.278-12A>C" "r.(=)" "p.(=)" "" "0000300252" "00024076" "10" "2981" "29" "2981" "29" "c.2981+29G>T" "r.(=)" "p.(=)" "" "0000300253" "00024076" "10" "3082" "0" "3082" "0" "c.3082A>G" "r.(?)" "p.(Thr1028Ala)" "" "0000300254" "00024076" "10" "352" "103" "352" "104" "c.352+103_352+104del" "r.(=)" "p.(=)" "" "0000300255" "00024076" "10" "390" "0" "390" "0" "c.390G>A" "r.(?)" "p.(Gln130=)" "" "0000300256" "00024076" "10" "467" "0" "467" "0" "c.467G>A" "r.(?)" "p.(Arg156Gln)" "" "0000300257" "00024076" "30" "531" "0" "531" "0" "c.531C>T" "r.(?)" "p.(His177=)" "" "0000300258" "00024076" "30" "574" "0" "574" "0" "c.574A>C" "r.(?)" "p.(Met192Leu)" "" "0000300259" "00024076" "30" "929" "0" "929" "0" "c.929A>G" "r.(?)" "p.(Gln310Arg)" "" "0000300260" "00024076" "10" "931" "0" "931" "0" "c.931C>A" "r.(?)" "p.(Leu311Ile)" "" "0000300261" "00024076" "10" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Val319Ile)" "" "0000304220" "00024076" "30" "1952" "0" "1952" "0" "c.1952C>T" "r.(?)" "p.(Pro651Leu)" "" "0000304221" "00024076" "30" "531" "0" "531" "0" "c.531C>T" "r.(?)" "p.(His177=)" "" "0000304222" "00024076" "30" "930" "0" "930" "0" "c.930G>T" "r.(?)" "p.(Gln310His)" "" "0000568432" "00024076" "30" "3022" "0" "3022" "0" "c.3022T>C" "r.(?)" "p.(Leu1008=)" "" "0000568433" "00024076" "10" "2471" "80" "2471" "80" "c.2471+80dup" "r.(=)" "p.(=)" "" "0000568434" "00024076" "30" "2384" "0" "2384" "0" "c.2384G>A" "r.(?)" "p.(Arg795His)" "" "0000568435" "00024076" "30" "2156" "0" "2156" "0" "c.2156C>T" "r.(?)" "p.(Ala719Val)" "" "0000568436" "00024076" "10" "2095" "0" "2095" "0" "c.2095G>A" "r.(?)" "p.(Val699Ile)" "" "0000568437" "00024076" "30" "2094" "0" "2094" "0" "c.2094C>T" "r.(?)" "p.(His698=)" "" "0000568438" "00024076" "30" "2094" "0" "2094" "0" "c.2094C>T" "r.(?)" "p.(His698=)" "" "0000568439" "00024076" "30" "1952" "0" "1952" "0" "c.1952C>T" "r.(?)" "p.(Pro651Leu)" "" "0000568440" "00024076" "30" "1752" "0" "1752" "0" "c.1752G>A" "r.(?)" "p.(Ala584=)" "" "0000568441" "00024076" "30" "1743" "0" "1743" "0" "c.1743G>A" "r.(?)" "p.(Glu581=)" "" "0000568442" "00024076" "50" "1228" "0" "1228" "0" "c.1228G>T" "r.(?)" "p.(Gly410Cys)" "" "0000568443" "00024076" "50" "1104" "0" "1104" "0" "c.1104T>G" "r.(?)" "p.(Ile368Met)" "" "0000568446" "00024076" "50" "749" "0" "749" "0" "c.749T>G" "r.(?)" "p.(Phe250Cys)" "" "0000568447" "00024076" "30" "574" "0" "574" "0" "c.574A>C" "r.(?)" "p.(Met192Leu)" "" "0000568448" "00024076" "30" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Cys84Tyr)" "" "0000568449" "00024076" "30" "81" "0" "81" "0" "c.81C>G" "r.(?)" "p.(Ser27=)" "" "0000617867" "00024076" "30" "930" "0" "930" "0" "c.930G>T" "r.(?)" "p.(Gln310His)" "" "0000624087" "00024076" "10" "1441" "0" "1441" "0" "c.1441G>A" "r.(?)" "p.(Ala481Thr)" "" "0000624088" "00024076" "50" "1104" "0" "1104" "0" "c.1104T>G" "r.(?)" "p.(Ile368Met)" "" "0000670375" "00024076" "50" "1587" "0" "1587" "0" "c.1587G>T" "r.(?)" "p.(Lys529Asn)" "" "0000809051" "00024076" "30" "2788" "0" "2788" "0" "c.2788A>T" "r.(?)" "p.(Asn930Tyr)" "" "0000809052" "00024076" "50" "1952" "0" "1952" "0" "c.1952C>T" "r.(?)" "p.(Pro651Leu)" "" "0000895128" "00024076" "30" "278" "-10" "278" "-10" "c.278-10T>C" "r.(=)" "p.(=)" "" "0000983653" "00024076" "90" "2471" "1" "2471" "1" "c.2471+1G>A" "r.spl?" "p.?" "" "0000983654" "00024076" "90" "2077" "0" "2077" "0" "c.2077C>T" "r.(?)" "p.(Arg693Trp)" "" "0001005132" "00024076" "50" "1416" "0" "1416" "0" "c.1416G>T" "r.(?)" "p.(Gln472His)" "" "0001005133" "00024076" "50" "1" "0" "2" "0" "c.1_2del" "r.(?)" "p.(Met1?)" "" "0001016751" "00024076" "50" "2161" "0" "2161" "0" "c.2161C>T" "r.(?)" "p.(Arg721Trp)" "" "0001016752" "00024076" "90" "749" "0" "749" "0" "c.749T>G" "r.(?)" "p.(Phe250Cys)" "" "0001016753" "00024076" "90" "2156" "0" "2156" "0" "c.2156C>T" "r.(?)" "p.(Ala719Val)" "" "0001016761" "00024076" "50" "2161" "0" "2161" "0" "c.2161C>T" "r.(?)" "p.(Arg721Trp)" "" "0001016762" "00024076" "90" "2161" "0" "2161" "0" "c.2161C>T" "r.(?)" "p.(Arg721Trp)" "" "0001016763" "00024076" "90" "749" "0" "749" "0" "c.749T>G" "r.(?)" "p.(Phe250Cys)" "" "0001016764" "00024076" "90" "2156" "0" "2156" "0" "c.2156C>T" "r.(?)" "p.(Ala719Val)" "" "0001016772" "00024076" "50" "2573" "0" "2573" "0" "c.2573T>C" "r.(?)" "p.(Ile858Thr)" "" "0001016773" "00024076" "50" "2573" "0" "2573" "0" "c.2573T>C" "r.(?)" "p.(Ile858Thr)" "" "0001016774" "00024076" "90" "1104" "0" "1104" "0" "c.1104T>G" "r.(?)" "p.(Ile368Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 49 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005915" "0000054688" "0000084660" "0000054689" "0000084661" "0000054689" "0000084705" "0000054690" "0000084662" "0000054690" "0000084704" "0000054706" "0000084680" "0000054708" "0000084681" "0000054709" "0000084682" "0000054711" "0000084683" "0000054712" "0000084684" "0000054713" "0000084686" "0000054714" "0000084687" "0000054714" "0000084706" "0000054715" "0000084688" "0000054716" "0000084689" "0000054716" "0000084707" "0000054717" "0000084690" "0000054717" "0000084694" "0000054718" "0000084691" "0000054719" "0000084692" "0000054720" "0000084693" "0000054720" "0000084695" "0000054720" "0000084696" "0000054720" "0000084697" "0000054720" "0000084698" "0000054720" "0000084699" "0000054720" "0000084700" "0000054721" "0000084701" "0000054721" "0000084708" "0000054722" "0000084702" "0000054722" "0000084709" "0000054723" "0000084703" "0000054724" "0000084710" "0000054724" "0000084711" "0000054727" "0000084715" "0000095349" "0000154170" "0000103724" "0000168218" "0000306683" "0000670375" "0000459040" "0001016751" "0000459040" "0001016772" "0000459041" "0001016752" "0000459041" "0001016774" "0000459042" "0001016753" "0000459050" "0001016761" "0000459050" "0001016773" "0000459051" "0001016762" "0000459052" "0001016763" "0000459053" "0001016764"