### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TNNI2) # 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}}" "TNNI2" "troponin I type 2 (skeletal, fast)" "11" "p15.5" "no" "NG_011621.1" "UD_132084439580" "" "https://www.LOVD.nl/TNNI2" "" "1" "11946" "7136" "191043" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/TNNI2_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2008-09-23 00:00:00" "00006" "2019-12-30 20:00:06" "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}}" "00021594" "TNNI2" "transcript variant 1" "001" "NM_003282.3" "" "NP_003273.1" "" "" "" "-53" "678" "549" "1860233" "1862910" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00026" "arthrogryposis" "arthrogryposis" "" "" "" "" "" "00001" "2012-08-03 16:49:36" "00006" "2019-01-04 15:23:51" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00385" "DA" "arthrogryposis, distal (DA)" "" "" "" "" "" "00006" "2014-05-27 12:44:13" "00006" "2015-12-08 23:59:30" "02383" "DA2B1" "arthrogryposis, distal, type 2B1a" "AD" "601680" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TNNI2" "02383" ## Individuals ## Do not remove or alter this header ## ## Count = 33 "{{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}}" "00154502" "" "" "" "1" "" "01164" "" "prenatal analysis, fetus has been analyzed with panel \"Fetale Akinesie / Arthrogryposis Multiplex Congenita (AMC) ID 078.02 - 186 genes\" (www.mgz-muenchen.de). Contamination test has been performed" "?" "?" "Germany" "" "0" "" "" "" "129386" "00154506" "" "" "" "1" "" "00006" "{PMID:Kimber 2006:16924011}" "3-generation family, 5 affecteds; mother congenital hip dislocation" "F" "" "Sweden" "" "0" "" "" "" "" "00154507" "" "" "" "1" "" "00006" "{PMID:Kimber 2006:16924011}" "paternal uncle of 16924011-IV.1" "M" "" "Sweden" "" "0" "" "" "" "" "00154508" "" "" "" "1" "" "00006" "{PMID:Kimber 2006:16924011}" "paternal uncle of 16924011-IV.1" "M" "" "Sweden" "" "0" "" "" "" "" "00154509" "" "" "" "1" "" "00006" "{PMID:Kimber 2006:16924011}" "father of 16924011-IV.1" "M" "" "Sweden" "" "0" "" "" "" "" "00154510" "" "" "" "1" "" "00006" "{PMID:Kimber 2006:16924011}" "paternal grandfather of 16924011-IV.1" "M" "" "Sweden" "" "0" "" "" "" "" "00154511" "" "" "" "9" "" "00006" "{PMID:Jiang 2004:15640106}, {PMID:Jiang 2006:11738357}, {PMID:Jiang 2007:17380469}" "3 generation family, 9 affecteds" "F" "no" "China" "" "0" "" "" "" "" "00154512" "" "" "" "22" "" "00006" "{PMID:Sung 2003:12592607}, {OMIM191043:0001}" "5-generation family, 22 affecteds" "" "" "United States" "" "0" "" "" "" "" "00154513" "" "" "" "3" "" "00006" "{PMID:Sung 2003:12592607}, {OMIM191043:0001}" "3 generation family, 3 affecteds, father and 2 children" "M" "" "United States" "" "0" "" "" "" "" "00154514" "" "" "" "4" "" "00006" "{PMID:Sung 2003:12592607}, {OMIM191043:0002}" "3 generation family, 4 affecteds, father and 3 children" "M" "" "United States" "" "0" "" "" "" "" "00154515" "" "" "" "2" "" "00006" "{PMID:Sung 2003:12592607}, {OMIM191043:0002}" "2 generation family, 2 affecteds (brother/sister)" "" "" "United States" "" "0" "" "" "" "" "00154516" "" "" "" "2" "" "00006" "{PMID:Drera 2006:17101001}" "3 generation family, affected mother/son" "M" "" "Italy" "" "0" "" "" "" "" "00154517" "" "" "" "6" "" "00006" "{PMID:Shrimpton 2006:16497570}" "4 generation family, 6 affecteds" "" "no" "United States" "" "0" "" "" "" "" "00154518" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "" "00154519" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "" "00154900" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-p3" "00154901" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-p2" "00154902" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-p1" "00154903" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-q1" "00154904" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-r1" "00154905" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-s1" "00154906" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-t1" "00154907" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-u1" "00154908" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-v1" "00154909" "" "" "" "1" "" "00006" "{PMID:Beck 2013:23401156}" "" "" "" "United States" "" "0" "" "" "" "23401156-w1" "00300626" "" "" "" "1" "" "01164" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00307199" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D16-0481" "00307201" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D16-0627" "00307236" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D18-1716" "00307238" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D18-2142" "00307242" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D19-0754" "00307243" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D19-0904" "00307245" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D19-1111" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 33 "{{individualid}}" "{{diseaseid}}" "00154502" "00026" "00154506" "00385" "00154507" "00385" "00154508" "00385" "00154509" "00385" "00154510" "00385" "00154511" "00385" "00154512" "00385" "00154513" "00385" "00154514" "00385" "00154515" "00385" "00154516" "00385" "00154517" "00385" "00154518" "00198" "00154519" "00198" "00154900" "00385" "00154901" "00385" "00154902" "00385" "00154903" "00385" "00154904" "00385" "00154905" "00385" "00154906" "00385" "00154907" "00385" "00154908" "00385" "00154909" "00385" "00300626" "00198" "00307199" "00385" "00307201" "00385" "00307236" "00385" "00307238" "00385" "00307242" "00385" "00307243" "00385" "00307245" "00385" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00026, 00198, 00385, 02383 ## Count = 33 "{{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}}" "0000127238" "00026" "00154502" "01164" "Unknown" "" "Hypokinesia, fixed fingers, polyhydramnios" "" "" "" "" "" "" "" "" "" "prenatal" "" "0000127242" "00385" "00154506" "00006" "Familial" "" "congenital hip dislocation, inguinal hernia, ulnal deviation fingers, normal CPK level" "2y" "" "multiple congenital contractures" "" "" "" "" "" "arthrogryposis, distal, type 2B (DA-2B)" "arthrogryposis, distal" "" "0000127243" "00385" "00154507" "00006" "Familial" "" "multiple congenital contractures, congenital hip dislocation, ulnal deviation fingers, CPK slightly elevated" "" "" "" "" "" "" "" "" "arthrogryposis, distal, type 2B (DA-2B)" "arthrogryposis, distal" "" "0000127244" "00385" "00154508" "00006" "Familial" "" "multiple congenital contractures, congenital hip dislocation, ulnal deviation fingers, CPK slightly elevated" "" "" "" "" "" "" "" "" "arthrogryposis, distal, type 2B (DA-2B)" "arthrogryposis, distal" "" "0000127245" "00385" "00154509" "00006" "Familial" "" "multiple congenital contractures, congenital hip dislocation, inguinal hernia, ulnal deviation fingers, CPK slightly elevated" "" "" "" "" "" "" "" "" "arthrogryposis, distal, type 2B (DA-2B)" "arthrogryposis, distal" "" "0000127246" "00385" "00154510" "00006" "Unknown" "" "multiple congenital contractures, ulnal deviation fingers, CPK slightly elevated" "" "" "" "" "" "" "" "" "arthrogryposis, distal, type 2B (DA-2B)" "arthrogryposis, distal" "" "0000127247" "00385" "00154511" "00006" "Familial, autosomal dominant" "" "severe camptodactyly, overlapping fingers (abnormal digital flexion creases, adducted thumbs), talipes planovalgus with flexed toes, scoliosis" "" "" "" "" "" "" "" "" "arthrogryposis, distal, type 2B (DA-2B)" "arthrogryposis, distal" "" "0000127248" "00385" "00154512" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "arthrogryposis, distal, type 2B (DA-2B)" "arthrogryposis, distal" "" "0000127249" "00385" "00154513" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "arthrogryposis, distal, type 2B (DA-2B)" "arthrogryposis, distal" "" "0000127250" "00385" "00154514" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "arthrogryposis, distal, type 2B (DA-2B)" "arthrogryposis, distal" "" "0000127251" "00385" "00154515" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "arthrogryposis, distal, type 2B (DA-2B)" "arthrogryposis, distal" "" "0000127252" "00385" "00154516" "00006" "Isolated (sporadic)" "" "birth mechanical ventilatory support, hypotonic, asymmetric posture, poor reactivity" "" "" "" "" "" "" "" "" "arthrogryposis, distal, type 2B (DA-2B)" "arthrogryposis, distal" "" "0000127253" "00385" "00154517" "00006" "Familial, autosomal dominant" "" "multiple nonprogressive congenital contractures limbs, no primary neurological / muscle disease affecting limb function" "" "" "" "" "" "" "" "" "arthrogryposis, distal, type 2B (DA-2B)" "arthrogryposis, distal" "" "0000127254" "00198" "00154518" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000127255" "00198" "00154519" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000127636" "00385" "00154900" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-2B" "" "" "0000127637" "00385" "00154901" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-2B" "" "" "0000127638" "00385" "00154902" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-2B" "" "" "0000127639" "00385" "00154903" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-2B" "" "" "0000127640" "00385" "00154904" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-1" "" "" "0000127641" "00385" "00154905" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-2B" "" "" "0000127642" "00385" "00154906" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-1" "" "" "0000127643" "00385" "00154907" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-2B" "" "" "0000127644" "00385" "00154908" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "DA-2B" "" "" "0000127645" "00385" "00154909" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DA-1" "" "" "0000227937" "00198" "00300626" "01164" "Unknown" "" "Fetal akinesia sequence (HP:0001989)" "" "" "" "" "" "" "" "" "" "" "" "0000233004" "00385" "00307199" "00534" "Familial, autosomal dominant" "" "distal arthrogryposis; autosomal dominant inheritance" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233006" "00385" "00307201" "00534" "Isolated (sporadic)" "" "antenatal onset; wrist flexion contracture; abnormality ankles; decreased fetal movement (knees/elbows)" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233041" "00385" "00307236" "00534" "Unknown" "" "distal arthrogryposis" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233043" "00385" "00307238" "00534" "Unknown" "" "distal arthrogryposis" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233047" "00385" "00307242" "00534" "Unknown" "" "congenital onset distal arthrogryposis; laryngomalacia; micrognathia" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233048" "00385" "00307243" "00534" "Familial, autosomal dominant" "" "distal arthrogryposis; hydronephrosis (left); feeding difficulties" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233050" "00385" "00307245" "00534" "Unknown" "" "distal arthrogryposis; shoulder flexion contracture; limb joint contracture" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 33 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000155360" "00154502" "1" "01164" "01164" "2018-03-02 10:46:03" "" "" "SEQ-NG-I" "DNA" "Amniotic fluid, fetal cells" "" "0000155364" "00154506" "1" "00006" "00006" "2008-09-28 10:16:16" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000155365" "00154507" "1" "00006" "00006" "2009-10-18 12:40:16" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000155366" "00154508" "1" "00006" "00006" "2009-10-18 12:40:16" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000155367" "00154509" "1" "00006" "00006" "2009-10-18 12:40:16" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000155368" "00154510" "1" "00006" "00006" "2009-10-18 12:40:16" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000155369" "00154511" "1" "00006" "00006" "2008-09-28 10:16:16" "00006" "2012-03-18 10:13:45" "HD;SEQ" "DNA" "" "" "0000155370" "00154512" "1" "00006" "00006" "2008-09-28 10:16:16" "00006" "2012-03-30 15:04:42" "SEQ" "DNA" "" "" "0000155371" "00154513" "1" "00006" "00006" "2008-09-28 10:16:16" "00006" "2012-03-30 15:04:42" "SEQ" "DNA" "" "" "0000155372" "00154514" "1" "00006" "00006" "2008-09-28 10:16:16" "00006" "2012-03-30 15:06:20" "SEQ" "DNA" "" "" "0000155373" "00154515" "1" "00006" "00006" "2008-09-28 10:16:16" "00006" "2012-03-30 15:07:30" "SEQ" "DNA" "" "" "0000155374" "00154516" "1" "00006" "00006" "2008-09-28 10:16:16" "00006" "2012-03-30 15:03:34" "SEQ" "DNA" "" "" "0000155375" "00154517" "1" "00006" "00006" "2008-09-28 10:16:16" "00006" "2012-03-18 10:13:45" "SEQ" "DNA" "" "" "0000155376" "00154518" "1" "00430" "00430" "2012-10-26 15:27:57" "" "" "SEQ" "DNA" "" "" "0000155377" "00154519" "1" "00430" "00430" "2012-10-26 15:27:57" "" "" "SEQ" "DNA" "" "" "0000155758" "00154900" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000155759" "00154901" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000155760" "00154902" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000155761" "00154903" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000155762" "00154904" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000155763" "00154905" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000155764" "00154906" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000155765" "00154907" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000155766" "00154908" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000155767" "00154909" "1" "00006" "00006" "2018-03-03 11:50:47" "" "" "SEQ" "DNA" "" "" "0000301747" "00300626" "1" "01164" "01164" "2020-05-04 10:13:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000308341" "00307199" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308343" "00307201" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308378" "00307236" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308380" "00307238" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308384" "00307242" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308385" "00307243" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308387" "00307245" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{geneid}}" "0000155360" "TNNI2" "0000155364" "TNNI2" "0000155365" "TNNI2" "0000155366" "TNNI2" "0000155367" "TNNI2" "0000155368" "TNNI2" "0000155369" "TNNI2" "0000155370" "TNNI2" "0000155371" "TNNI2" "0000155372" "TNNI2" "0000155373" "TNNI2" "0000155374" "TNNI2" "0000155375" "TNNI2" "0000155376" "TNNI2" "0000155377" "TNNI2" "0000155758" "TNNI2" "0000155759" "TNNI2" "0000155760" "TNNI2" "0000155761" "TNNI2" "0000155762" "TNNI2" "0000155763" "TNNI2" "0000155764" "TNNI2" "0000155765" "TNNI2" "0000155766" "TNNI2" "0000155767" "TNNI2" "0000308341" "TNNI2" "0000308343" "TNNI2" "0000308378" "TNNI2" "0000308380" "TNNI2" "0000308384" "TNNI2" "0000308385" "TNNI2" "0000308387" "TNNI2" ## 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 = 51 "{{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}}" "0000309270" "0" "10" "11" "1861760" "1861760" "subst" "0.879591" "02330" "TNNI2_000007" "g.1861760T>C" "" "" "" "TNNI2(NM_001145829.2):c.60T>C (p.S20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1840530T>C" "" "benign" "" "0000311928" "0" "10" "11" "1861760" "1861760" "subst" "0.879591" "02325" "TNNI2_000007" "g.1861760T>C" "" "" "" "TNNI2(NM_001145829.2):c.60T>C (p.S20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1840530T>C" "" "benign" "" "0000313336" "0" "70" "11" "1862757" "1862757" "subst" "0" "02329" "TNNI2_000011" "g.1862757G>T" "" "" "" "TNNI2(NM_001145829.2):c.525G>T (p.K175N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1841527G>T" "" "likely pathogenic" "" "0000314723" "0" "70" "11" "1862714" "1862714" "subst" "0" "02326" "TNNI2_000008" "g.1862714G>A" "" "" "" "TNNI2(NM_001145829.2):c.482G>A (p.W161*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1841484G>A" "" "likely pathogenic" "" "0000321913" "0" "50" "11" "1857712" "1857712" "subst" "9.69589E-5" "01804" "SYT8_000003" "g.1857712C>A" "" "" "" "SYT8(NM_138567.3):c.616C>A (p.(Arg206Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1836482C>A" "" "VUS" "" "0000345632" "0" "50" "11" "1862298" "1862298" "subst" "4.08914E-6" "02327" "TNNI2_000010" "g.1862298G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1841068G>A" "" "VUS" "" "0000355082" "0" "70" "11" "1862753" "1862753" "subst" "0" "01164" "TNNI2_000002" "g.1862753G>A" "" "" "" "" "1) Sung 2003 found in 2 independent families with DA2B; in one family 521G>A arose de novo and segregated with DA2B in all affected children; 2) Beck 2013 identified a family with Distal arthrogryposis type 1 in affected father and child" "Germline/De novo (untested)" "?" "rs104894311" "0" "" "" "g.1841523G>A" "{CV:12435}" "likely pathogenic" "" "0000355094" "1" "50" "11" "1861106" "1861106" "subst" "3.28227E-5" "00006" "TNNI2_000005" "g.1861106C>G" "0.00-0.01" "" "" "" "" "Germline" "" "rs2292476" "0" "" "" "g.1839876C>G" "" "VUS" "" "0000355095" "1" "50" "11" "1861912" "1861912" "subst" "0.183075" "00006" "TNNI2_000006" "g.1861912G>A" "0.06-0.22" "" "" "" "" "Germline" "" "rs2271441" "0" "" "" "g.1840682G>A" "" "VUS" "" "0000355127" "11" "90" "11" "1862759" "1862761" "del" "0" "00006" "TNNI2_000001" "g.1862759_1862761del" "" "{PMID:Kimber 2006:16924011}, {OMIM191043:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.1841529_1841531del" "" "pathogenic" "" "0000355128" "11" "90" "11" "1862759" "1862761" "del" "0" "00006" "TNNI2_000001" "g.1862759_1862761del" "" "{PMID:Kimber 2006:16924011}, {OMIM191043:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.1841529_1841531del" "" "pathogenic" "" "0000355129" "11" "90" "11" "1862759" "1862761" "del" "0" "00006" "TNNI2_000001" "g.1862759_1862761del" "" "{PMID:Kimber 2006:16924011}, {OMIM191043:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.1841529_1841531del" "" "pathogenic" "" "0000355130" "11" "90" "11" "1862759" "1862761" "del" "0" "00006" "TNNI2_000001" "g.1862759_1862761del" "" "{PMID:Kimber 2006:16924011}, {OMIM191043:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.1841529_1841531del" "" "pathogenic" "" "0000355131" "1" "90" "11" "1862759" "1862761" "del" "0" "00006" "TNNI2_000001" "g.1862759_1862761del" "" "{PMID:Kimber 2006:16924011}, {OMIM191043:0004}" "" "" "possibly de novo" "Unknown" "" "" "0" "" "" "g.1841529_1841531del" "" "pathogenic" "" "0000355132" "21" "90" "11" "1862759" "1862761" "del" "0" "00006" "TNNI2_000001" "g.1862759_1862761del" "" "{PMID:Jiang 2006:11738357}, {PMID:Jiang 2007:17380469}, {OMIM191043:0003}" "" "523_525delAAG (K175del)" "not in 100 control chromosomes; linkage LOD=3.61, autosomal dominant" "Germline" "" "" "0" "" "" "g.1841529_1841531del" "" "pathogenic" "" "0000355133" "1" "90" "11" "1862753" "1862753" "subst" "0" "00006" "TNNI2_000002" "g.1862753G>A" "" "{PMID:Sung 2003:12592607}, {OMIM191043:0001}" "+MspI" "" "not in 140 control chromosomes" "Germline" "" "rs104894311" "0" "" "" "g.1841523G>A" "" "pathogenic" "" "0000355134" "1" "90" "11" "1862753" "1862753" "subst" "0" "00006" "TNNI2_000002" "g.1862753G>A" "" "{PMID:Sung 2003:12592607}, {OMIM191043:0001}" "+MspI" "" "not in 140 control chromosomes; de novo, in father" "Germline" "" "rs104894311" "0" "" "" "g.1841523G>A" "" "pathogenic" "" "0000355135" "1" "90" "11" "1862698" "1862698" "subst" "0" "00006" "TNNI2_000003" "g.1862698C>T" "" "{PMID:Sung 2003:12592607}, {OMIM191043:0002}" "-BfuAI" "" "not in 140 control chromosomes; de novo, in father" "Germline" "" "rs104894312" "0" "" "" "g.1841468C>T" "" "pathogenic" "" "0000355136" "1" "90" "11" "1862698" "1862698" "subst" "0" "00006" "TNNI2_000003" "g.1862698C>T" "" "{PMID:Sung 2003:12592607}, {OMIM191043:0002}" "-BfuAI" "" "not in 140 control chromosomes; germline mosaicism parent?" "De novo" "" "rs104894312" "0" "" "" "g.1841468C>T" "" "pathogenic" "" "0000355137" "21" "90" "11" "1862698" "1862698" "subst" "0" "00006" "TNNI2_000003" "g.1862698C>T" "" "{PMID:Drera 2006:17101001}, {OMIM191043:0002}" "-BfuAI" "" "autosomal dominant; possibly de novo in mother (grandparents not available)" "Germline" "" "rs104894312" "0" "" "" "g.1841468C>T" "" "pathogenic" "" "0000355138" "11" "90" "11" "1862731" "1862733" "del" "0" "00006" "TNNI2_000004" "g.1862731_1862733del" "" "{PMID:Shrimpton 2006:16497570}, {OMIM191043:0005}" "" "496_498delGAG (E167del)" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.1841501_1841503del" "" "pathogenic" "" "0000355139" "0" "10" "11" "1861760" "1861760" "subst" "0.879591" "00430" "TNNI2_000007" "g.1861760T>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "rs907610" "0" "" "" "g.1840530T>C" "" "benign" "" "0000355140" "0" "10" "11" "1862168" "1862168" "subst" "0.249149" "00430" "TNNI2_000009" "g.1862168C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "rs1877444" "0" "" "" "g.1840938C>T" "" "benign" "" "0000355537" "1" "90" "11" "1862698" "1862698" "subst" "0" "00006" "TNNI2_000003" "g.1862698C>T" "" "{PMID:Beck 2013:23401156}" "" "" "" "Germline" "" "" "0" "" "" "g.1841468C>T" "" "pathogenic" "" "0000355538" "1" "90" "11" "1862698" "1862698" "subst" "0" "00006" "TNNI2_000003" "g.1862698C>T" "" "{PMID:Beck 2013:23401156}" "" "" "" "Germline" "" "" "0" "" "" "g.1841468C>T" "" "pathogenic" "" "0000355539" "1" "90" "11" "1862698" "1862698" "subst" "0" "00006" "TNNI2_000003" "g.1862698C>T" "" "{PMID:Beck 2013:23401156}" "" "" "" "Germline" "" "" "0" "" "" "g.1841468C>T" "" "pathogenic" "" "0000355540" "1" "90" "11" "1862716" "1862716" "subst" "0" "00006" "TNNI2_000012" "g.1862716A>G" "" "{PMID:Beck 2013:23401156}" "" "" "" "Germline" "" "" "0" "" "" "g.1841486A>G" "" "pathogenic" "" "0000355541" "1" "90" "11" "1862731" "1862733" "del" "0" "00006" "TNNI2_000004" "g.1862731_1862733del" "" "{PMID:Beck 2013:23401156}" "" "496_498delGAG" "" "Germline" "" "" "0" "" "" "g.1841501_1841503del" "" "pathogenic" "" "0000355542" "1" "90" "11" "1862734" "1862734" "subst" "0" "00006" "TNNI2_000013" "g.1862734A>G" "" "{PMID:Beck 2013:23401156}" "" "" "" "Germline" "" "" "0" "" "" "g.1841504A>G" "" "pathogenic" "" "0000355543" "1" "90" "11" "1862753" "1862753" "subst" "0" "00006" "TNNI2_000002" "g.1862753G>A" "" "{PMID:Beck 2013:23401156}" "" "" "" "Germline" "" "" "0" "" "" "g.1841523G>A" "" "pathogenic" "" "0000355544" "1" "90" "11" "1862753" "1862753" "subst" "0" "00006" "TNNI2_000002" "g.1862753G>A" "" "{PMID:Beck 2013:23401156}" "" "" "" "Germline" "" "" "0" "" "" "g.1841523G>A" "" "pathogenic" "" "0000355545" "1" "90" "11" "1862757" "1862757" "subst" "0" "00006" "TNNI2_000011" "g.1862757G>T" "" "{PMID:Beck 2013:23401156}" "" "" "" "De novo" "" "" "0" "" "" "g.1841527G>T" "" "pathogenic" "" "0000355546" "1" "90" "11" "1862759" "1862761" "del" "0" "00006" "TNNI2_000001" "g.1862759_1862761del" "" "{PMID:Beck 2013:23401156}" "" "523_525delAAG" "" "Germline" "" "" "0" "" "" "g.1841529_1841531del" "" "pathogenic" "" "0000543347" "0" "10" "11" "1861850" "1861850" "subst" "0.00133559" "02330" "SYT8_000008" "g.1861850G>A" "" "" "" "TNNI2(NM_001145829.2):c.150G>A (p.P50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1840620G>A" "" "benign" "" "0000543349" "0" "10" "11" "1862244" "1862244" "subst" "0.0034497" "02330" "SYT8_000010" "g.1862244G>A" "" "" "" "TNNI2(NM_001145829.2):c.277-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1841014G>A" "" "benign" "" "0000543350" "0" "90" "11" "1862753" "1862753" "subst" "0" "02325" "TNNI2_000002" "g.1862753G>A" "" "" "" "TNNI2(NM_001145829.2):c.521G>A (p.R174Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1841523G>A" "" "pathogenic" "" "0000664816" "0" "70" "11" "1862753" "1862753" "subst" "0" "01164" "TNNI2_000002" "g.1862753G>A" "" "" "" "" "ACMG grading: PS3,PM5,PP5; Richard et al. 1999. Am 64: 1524-40; Luo et al. 2012. Muscle Nerv 46: 723-9; Nallamilli et al. 2018. Ann Clin Transl Neurol 5: 1574-1587; Lahoria et al. 2016. J Neurol Sci 361: 29-33" "Germline" "" "rs104894311" "0" "" "" "g.1841523G>A" "" "likely pathogenic" "ACMG" "0000675299" "1" "90" "11" "1862698" "1862698" "subst" "0" "00534" "TNNI2_000003" "g.1862698C>T" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.1841468C>T" "" "pathogenic (dominant)" "ACMG" "0000675301" "0" "90" "11" "1862753" "1862753" "subst" "0" "00534" "TNNI2_000002" "g.1862753G>A" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "De novo" "" "" "0" "" "" "g.1841523G>A" "" "pathogenic (dominant)" "ACMG" "0000675336" "0" "90" "11" "1862759" "1862761" "del" "0" "00534" "TNNI2_000001" "g.1862759_1862761del" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "c.527_529delAGA" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.1841529_1841531del" "" "pathogenic" "ACMG" "0000675338" "0" "90" "11" "1862731" "1862733" "del" "0" "00534" "TNNI2_000004" "g.1862731_1862733del" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "c.499_501delGAG" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.1841501_1841503del" "" "pathogenic" "ACMG" "0000675342" "0" "90" "11" "1862759" "1862761" "del" "0" "00534" "TNNI2_000001" "g.1862759_1862761del" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "c.527_529delAGA" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.1841529_1841531del" "" "pathogenic" "ACMG" "0000675343" "1" "90" "11" "1862753" "1862753" "subst" "0" "00534" "TNNI2_000002" "g.1862753G>A" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.1841523G>A" "" "pathogenic (dominant)" "ACMG" "0000675345" "0" "90" "11" "1862753" "1862753" "subst" "0" "00534" "TNNI2_000002" "g.1862753G>A" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.1841523G>A" "" "pathogenic" "ACMG" "0000723354" "0" "30" "11" "1861691" "1861691" "subst" "0.000497112" "02326" "SYT8_000011" "g.1861691G>C" "" "" "" "TNNI2(NM_001145829.2):c.57+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925356" "0" "30" "11" "1862317" "1862317" "subst" "0.000751235" "02330" "SYT8_000012" "g.1862317A>G" "" "" "" "TNNI2(NM_001145829.2):c.333A>G (p.P111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929834" "0" "10" "11" "1861691" "1861691" "subst" "0.000497112" "02330" "SYT8_000011" "g.1861691G>C" "" "" "" "TNNI2(NM_001145829.2):c.57+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000966289" "0" "30" "11" "1862772" "1862772" "subst" "1.62666E-5" "02326" "SYT8_000013" "g.1862772C>T" "" "" "" "TNNI2(NM_003282.4):c.540C>T (p.S180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998935" "0" "90" "11" "1862731" "1862733" "del" "0" "02329" "TNNI2_000004" "g.1862731_1862733del" "" "" "" "TNNI2(NM_001145829.2):c.499_501delGAG (p.E167del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001053763" "0" "50" "11" "1861810" "1861810" "subst" "6.13136E-5" "01804" "SYT8_000014" "g.1861810G>A" "" "" "" "TNNI2(NM_003282.4):c.110G>A (p.(Arg37His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053764" "0" "50" "11" "1862295" "1862295" "subst" "0" "01804" "SYT8_000015" "g.1862295G>T" "" "" "" "TNNI2(NM_003282.4):c.311G>T (p.(Arg104Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TNNI2 ## Count = 51 "{{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}}" "0000309270" "00021594" "10" "60" "0" "60" "0" "c.60T>C" "r.(?)" "p.(Ser20=)" "" "0000311928" "00021594" "10" "60" "0" "60" "0" "c.60T>C" "r.(?)" "p.(Ser20=)" "" "0000313336" "00021594" "70" "525" "0" "525" "0" "c.525G>T" "r.(?)" "p.(Lys175Asn)" "" "0000314723" "00021594" "70" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Trp161Ter)" "" "0000321913" "00021594" "50" "-2574" "0" "-2574" "0" "c.-2574C>A" "r.(?)" "p.(=)" "" "0000345632" "00021594" "50" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Gly105Asp)" "" "0000355082" "00021594" "70" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Arg174Gln)" "8" "0000355094" "00021594" "50" "15" "21" "15" "21" "c.15+21C>G" "r.(?)" "p.(=)" "3i" "0000355095" "00021594" "50" "186" "26" "186" "26" "c.186+26G>A" "r.(?)" "p.(=)" "5i" "0000355127" "00021594" "90" "527" "0" "529" "0" "c.527_529del" "r.(?)" "p.(Lys176del)" "8" "0000355128" "00021594" "90" "527" "0" "529" "0" "c.527_529del" "r.(?)" "p.(Lys176del)" "8" "0000355129" "00021594" "90" "527" "0" "529" "0" "c.527_529del" "r.(?)" "p.(Lys176del)" "8" "0000355130" "00021594" "90" "527" "0" "529" "0" "c.527_529del" "r.(?)" "p.(Lys176del)" "8" "0000355131" "00021594" "90" "527" "0" "529" "0" "c.527_529del" "r.(?)" "p.(Lys176del)" "8" "0000355132" "00021594" "90" "527" "0" "529" "0" "c.527_529del" "r.(?)" "p.(Lys176del)" "8" "0000355133" "00021594" "90" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Arg174Gln)" "8" "0000355134" "00021594" "90" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Arg174Gln)" "8" "0000355135" "00021594" "90" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156*)" "8" "0000355136" "00021594" "90" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156*)" "8" "0000355137" "00021594" "90" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156*)" "8" "0000355138" "00021594" "90" "499" "0" "501" "0" "c.499_501del" "r.(?)" "p.(Glu167del)" "8" "0000355139" "00021594" "10" "60" "0" "60" "0" "c.60T>C" "r.(?)" "p.(=)" "5" "0000355140" "00021594" "10" "276" "30" "276" "30" "c.276+30C>T" "r.(?)" "p.(=)" "6i" "0000355537" "00021594" "90" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156*)" "8" "0000355538" "00021594" "90" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156*)" "8" "0000355539" "00021594" "90" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156*)" "8" "0000355540" "00021594" "90" "484" "0" "484" "0" "c.484A>G" "r.(?)" "p.(Arg162Gly)" "8" "0000355541" "00021594" "90" "499" "0" "501" "0" "c.499_501del" "r.(?)" "p.(Glu167del)" "8" "0000355542" "00021594" "90" "502" "0" "502" "0" "c.502A>G" "r.(?)" "p.(Lys168Glu)" "8" "0000355543" "00021594" "90" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Arg174Gln)" "8" "0000355544" "00021594" "90" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Arg174Gln)" "8" "0000355545" "00021594" "90" "525" "0" "525" "0" "c.525G>T" "r.(?)" "p.(Lys175Asn)" "8" "0000355546" "00021594" "90" "527" "0" "529" "0" "c.527_529del" "r.(?)" "p.(Lys176del)" "8" "0000543347" "00021594" "10" "150" "0" "150" "0" "c.150G>A" "r.(?)" "p.(Pro50=)" "" "0000543349" "00021594" "10" "277" "-17" "277" "-17" "c.277-17G>A" "r.(=)" "p.(=)" "" "0000543350" "00021594" "90" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Arg174Gln)" "" "0000664816" "00021594" "70" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Arg174Gln)" "" "0000675299" "00021594" "90" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156*)" "" "0000675301" "00021594" "90" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Arg174Gln)" "" "0000675336" "00021594" "90" "527" "0" "529" "0" "c.527_529del" "r.(?)" "p.(Lys176del)" "" "0000675338" "00021594" "90" "499" "0" "501" "0" "c.499_501del" "r.(?)" "p.(Glu167del)" "" "0000675342" "00021594" "90" "527" "0" "529" "0" "c.527_529del" "r.(?)" "p.(Lys176del)" "" "0000675343" "00021594" "90" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Arg174Gln)" "" "0000675345" "00021594" "90" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Arg174Gln)" "" "0000723354" "00021594" "30" "57" "17" "57" "17" "c.57+17G>C" "r.(=)" "p.(=)" "" "0000925356" "00021594" "30" "333" "0" "333" "0" "c.333A>G" "r.(?)" "p.(Pro111=)" "" "0000929834" "00021594" "10" "57" "17" "57" "17" "c.57+17G>C" "r.(=)" "p.(=)" "" "0000966289" "00021594" "30" "540" "0" "540" "0" "c.540C>T" "r.(?)" "p.(=)" "" "0000998935" "00021594" "90" "499" "0" "501" "0" "c.499_501del" "r.(?)" "p.(Glu167del)" "" "0001053763" "00021594" "50" "110" "0" "110" "0" "c.110G>A" "r.(?)" "p.(Arg37His)" "" "0001053764" "00021594" "50" "311" "0" "311" "0" "c.311G>T" "r.(?)" "p.(Arg104Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{variantid}}" "0000155360" "0000355082" "0000155364" "0000355127" "0000155365" "0000355128" "0000155366" "0000355129" "0000155367" "0000355130" "0000155368" "0000355131" "0000155369" "0000355132" "0000155370" "0000355133" "0000155371" "0000355134" "0000155372" "0000355135" "0000155373" "0000355136" "0000155374" "0000355137" "0000155375" "0000355138" "0000155376" "0000355139" "0000155377" "0000355140" "0000155758" "0000355537" "0000155759" "0000355538" "0000155760" "0000355539" "0000155761" "0000355540" "0000155762" "0000355541" "0000155763" "0000355542" "0000155764" "0000355543" "0000155765" "0000355544" "0000155766" "0000355545" "0000155767" "0000355546" "0000301747" "0000664816" "0000308341" "0000675299" "0000308343" "0000675301" "0000308378" "0000675336" "0000308380" "0000675338" "0000308384" "0000675342" "0000308385" "0000675343" "0000308387" "0000675345"