### LOVD-version 3000-25c ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMEM67) # 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}}" "TMEM67" "transmembrane protein 67" "8" "q22.1" "unknown" "NG_009190.1" "UD_132118725848" "" "https://www.LOVD.nl/TMEM67" "Orphanet \r\nFinnish Disease Database (FinDis) " "1" "28396" "91147" "609884" "1" "1" "1" "1" "alias MKS3, JBTS6, Meckelin, MGC26979, NPHP11\r\nEstablishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.\r\nWe gratefully acknowledge the support of Juha Muilu acting as curator until 2015." "" "g" "http://databases.lovd.nl/shared/refseq/TMEM67_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2019-07-21 20:43:22" "00006" "2020-11-10 17:13:33" ## 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}}" "00000140" "TMEM67" "transmembrane protein 67, transcript variant 1" "002" "NM_153704.5" "" "NP_714915.3" "" "" "" "-71" "4655" "2988" "94767072" "94830347" "00002" "2012-05-11 13:12:13" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00002" "JBTS-1" "Joubert syndrome, type 1 (JBTS-1)" "" "213300" "" "" "" "00006" "2012-05-17 22:47:36" "00006" "2015-02-28 13:13:57" "00075" "MKS-3" "Meckel syndrome, type 3 (MKS-3)" "" "607361" "" "" "" "00015" "2012-11-09 15:01:06" "00006" "2015-12-08 23:59:30" "00076" "COACH" "COACH syndrome" "" "216360" "" "" "" "00015" "2012-11-09 15:02:45" "" "" "00077" "NPHP-11" "nephronophthisis, type 11 (NPHP-11)" "" "613550" "" "" "" "00015" "2012-11-09 15:03:49" "00006" "2015-12-08 23:54:35" "00078" "MKS-1" "Meckel syndrome, type 1 (MKS-1, Meckel-Gruber syndrome)" "" "249000" "" "" "" "00015" "2012-11-09 15:11:48" "00006" "2015-12-08 23:59:30" "00089" "BBS-1" "Bardet-Biedl syndrome, type 1 (BBS-1)" "" "209900" "" "" "" "00015" "2012-11-26 09:02:23" "00006" "2015-02-27 19:01:24" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00934" "JBTS-6" "Joubert syndrome, type 6 (JBTS-6)" "" "610688" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:59:30" "04214" "retinal disease" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00006" "2020-08-25 10:54:40" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" "05419" "RHYNS" "syndrome, retinitis pigmentosa, hypopituitarism, nephronophthisis and skeletal dysplasia (RHYNS)" "" "602152" "eyes;ears;liver;bones (skeleton)" "" "" "00008" "2018-04-04 16:07:23" "00006" "2019-07-17 10:47:40" "05578" "MKS" "syndrome, Meckel (MKS, Meckel-Gruber syndrome)" "" "" "" "" "" "00006" "2019-02-22 22:26:27" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{geneid}}" "{{diseaseid}}" "TMEM67" "00002" "TMEM67" "00075" "TMEM67" "00076" "TMEM67" "00077" "TMEM67" "00089" "TMEM67" "00139" "TMEM67" "00934" "TMEM67" "05419" ## Individuals ## Do not remove or alter this header ## ## Count = 31 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{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}}" "00000031" "" "" "" "1" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00028915" "" "" "" "1" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00028949" "" "" "" "1" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00028950" "" "" "" "1" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00028951" "" "" "" "1" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00028952" "" "" "" "1" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00056058" "" "" "" "1" "00552" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00056059" "" "" "" "1" "00552" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00056060" "" "" "" "1" "00552" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00056061" "" "" "" "1" "00552" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00056062" "" "" "" "1" "00552" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092243" "" "" "" "1" "00006" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "2-generation family, 1 affected, unaffected heterozygous carrier mother/father unknown" "M" "" "United States" "" "0" "" "" "" "" "00155014" "" "" "" "1" "02401" "{PMID:Di Rocco 1997:9375913}, {PMID:Brancati 2018:29891882}, {DOI:Brancati 2018:10.1038/s41431-018-0183-6}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Italy" "" "0" "" "" "" "FamPatII1" "00225722" "" "" "" "1" "00006" "{PMID:Shaheen 2013:23169490}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "23169490-FamMKS_F6" "00265632" "" "" "" "2" "02320" "" "" "M" "no" "Viet Nam;(Viet Nam)" "" "0" "yes" "" "Asian" "" "00269120" "" "" "" "1" "01164" "" "" "?" "" "" "" "0" "" "" "" "" "00269773" "" "" "" "1" "00006" "{PMID:Tsurusaki 2013:23034536}" "2-generation family, 1 affected" "M" "" "Japan" "" "0" "" "" "" "Fam3" "00294678" "" "" "" "87" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294680" "" "" "" "137" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294681" "" "" "" "2" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294682" "" "" "" "1" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294684" "" "" "" "1" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305208" "" "" "" "2" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309639" "" "" "" "8" "00006" "{PMID:Khan 2016:26854863}" "5-generation family, 8 affected (5F, 3M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat501" "00309640" "" "" "00309639" "1" "00006" "{PMID:Khan 2016:26854863}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat502" "00309641" "" "" "00309639" "1" "00006" "{PMID:Khan 2016:26854863}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat503" "00309642" "" "" "00309639" "1" "00006" "{PMID:Khan 2016:26854863}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat505" "00309643" "" "" "00309639" "1" "00006" "{PMID:Khan 2016:26854863}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat507" "00309645" "" "" "00309639" "1" "00006" "{PMID:Khan 2016:26854863}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat509" "00318001" "" "" "" "1" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR151" "00319923" "" "" "" "1" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Pakistan" "" "0" "" "" "Punjabi" "PKMR61b" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00028915" "00002" "00028949" "00002" "00028950" "00002" "00028951" "00002" "00028952" "00002" "00056058" "00078" "00056059" "00078" "00056060" "00078" "00056061" "00078" "00056062" "00078" "00092243" "00075" "00155014" "05419" "00225722" "05578" "00265632" "00002" "00269120" "00198" "00269773" "05109" "00294678" "00198" "00294680" "00198" "00294681" "00198" "00294682" "00198" "00294684" "00198" "00305208" "00198" "00309639" "04214" "00309640" "04214" "00309641" "04214" "00309642" "04214" "00309643" "04214" "00309645" "04214" "00318001" "00139" "00319923" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00002, 00075, 00076, 00077, 00078, 00089, 00139, 00198, 00934, 04214, 05109, 05419, 05578 ## Count = 24 "{{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}}" "0000025011" "00002" "00028915" "01188" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025024" "00002" "00028949" "01188" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025025" "00002" "00028950" "01188" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025026" "00002" "00028951" "01188" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025027" "00002" "00028952" "01188" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043078" "00078" "00056058" "00006" "Unknown" "" "Meckel-Gruber syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000043079" "00078" "00056059" "00006" "Unknown" "" "Meckel-Gruber syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000043080" "00078" "00056060" "00006" "Unknown" "" "Meckel-Gruber syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000043081" "00078" "00056061" "00006" "Unknown" "" "Meckel-Gruber syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000043082" "00078" "00056062" "00006" "Unknown" "" "Meckel-Gruber syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000070577" "00075" "00092243" "00006" "Familial, autosomal recessive" "" "mild IDD, adolescent-onset dementia, vertical gaze palsy, ataxia, ADHD, cerebellar atrophy at age 8y (molar tooth sign at age 22y, after diagnosis established), hepatosplenomegaly,progressive hepatic fibrosis, portal hypertension,; lysosomal storage disease phenotype" "" "" "" "" "" "" "" "" "" "" "" "0000170831" "05578" "00225722" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MKS-3" "Meckel-Gruber syndrome" "" "0000186693" "05419" "00155014" "00006" "Familial, autosomal recessive" "38y" "see paper; ..." "" "" "" "" "" "" "" "" "RHYNS" "" "" "0000203419" "00002" "00265632" "02320" "Familial, autosomal recessive" "10y" "HP:0001263\r\nHP:0001251\r\nHP:0001249\r\nHP:0002553\r\nHP:0000508\r\nHP:0000657\r\nHP:0002793\r\nHP:0001252\r\nHP:0001320\r\nHP:0100951\r\nHP:0002419\r\nHP:0000007" "02y" "10y" "" "" "" "" "" "" "Joubert syndrome" "Cerebral palsy" "" "0000206965" "00198" "00269120" "01164" "Unknown" "" "Enlarged kidneys (HP:0000105); Abnormality of the myocardium (HP:0001637); Tricuspid atresia (HP:0011662); Oligohydramnios (HP:0001562); Encephalocele (HP:0002084)" "" "" "" "" "" "" "" "" "" "" "" "0000207577" "05109" "00269773" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "JBTS-6" "Joubert syndrome" "" "0000234958" "04214" "00309639" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "BBS, variable" "" "0000234959" "04214" "00309640" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "BBS, variable" "" "0000234960" "04214" "00309641" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "BBS, variable" "" "0000234961" "04214" "00309642" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "BBS, variable" "" "0000234962" "04214" "00309643" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "BBS, variable" "" "0000234964" "04214" "00309645" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "BBS, variable" "" "0000241785" "00139" "00318001" "00006" "Familial, autosomal recessive" "" "Severe ID, speech delay. epilepsy, motor weakness" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000242025" "00139" "00319923" "00006" "Familial, autosomal recessive" "" "intellectual disability, physically weak, deafness and speech problem" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 31 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000031" "00000031" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000028945" "00028915" "1" "01188" "01188" "2015-01-05 14:21:43" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000028983" "00028949" "1" "01188" "01188" "2015-01-06 09:10:27" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000028984" "00028950" "1" "01188" "01188" "2015-01-06 09:12:10" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000028985" "00028951" "1" "01188" "01188" "2015-01-06 09:28:57" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000028986" "00028952" "1" "01188" "01188" "2015-01-06 09:30:55" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000056014" "00056058" "1" "00552" "00552" "2015-12-08 17:05:38" "" "" "SEQ-NG" "DNA" "" "" "0000056015" "00056059" "1" "00552" "00552" "2015-12-08 17:07:17" "" "" "SEQ-NG" "DNA" "" "" "0000056016" "00056060" "1" "00552" "00552" "2015-12-08 17:08:59" "" "" "SEQ-NG" "DNA" "" "" "0000056017" "00056061" "1" "00552" "00552" "2015-12-08 17:10:08" "" "" "SEQ-NG" "DNA" "" "" "0000056018" "00056062" "1" "00552" "00552" "2015-12-08 17:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000092384" "00092243" "1" "00006" "00006" "2016-12-16 19:09:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000155877" "00155014" "1" "02401" "02401" "2018-03-09 07:29:32" "" "" "SEQ-NG" "DNA" "" "" "0000226789" "00225722" "1" "00006" "00006" "2019-02-22 23:53:31" "" "" "SEQ" "DNA" "" "" "0000266755" "00265632" "1" "02320" "02320" "2019-09-29 11:33:25" "" "" "SEQ-NG-I" "DNA" "Blood sample, amniotic fluid" "WES" "0000270251" "00269120" "1" "01164" "01164" "2019-11-06 14:42:19" "" "" "SEQ-NG-S" "DNA" "" "" "0000270928" "00269773" "1" "00006" "00006" "2019-12-05 11:24:58" "00006" "2019-12-05 11:33:28" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000295846" "00294678" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295848" "00294680" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295849" "00294681" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295850" "00294682" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295852" "00294684" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306337" "00305208" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310784" "00309639" "1" "00006" "00006" "2020-08-30 12:45:21" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310785" "00309640" "1" "00006" "00006" "2020-08-30 12:48:12" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310786" "00309641" "1" "00006" "00006" "2020-08-30 12:49:09" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310787" "00309642" "1" "00006" "00006" "2020-08-30 12:50:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310788" "00309643" "1" "00006" "00006" "2020-08-30 12:50:48" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310790" "00309645" "1" "00006" "00006" "2020-08-30 12:53:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000319183" "00318001" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000321104" "00319923" "1" "00006" "00006" "2020-11-10 17:13:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 62 "{{screeningid}}" "{{geneid}}" "0000000031" "ADA" "0000000031" "ATP7B" "0000000031" "CYP21A2" "0000000031" "DPYD" "0000000031" "ETFB" "0000000031" "FKTN" "0000000031" "GAA" "0000000031" "GLB1" "0000000031" "IGHMBP2" "0000000031" "NHLRC1" "0000000031" "NPHS1" "0000000031" "SERPINA1" "0000000031" "TMEM67" "0000000031" "WNT10A" "0000028945" "AHI1" "0000028945" "TMEM67" "0000028983" "TMEM67" "0000028984" "TMEM67" "0000028985" "TMEM67" "0000028986" "TMEM67" "0000092384" "TMEM67" "0000226789" "TMEM67" "0000270928" "TMEM67" "0000310784" "C8orf37" "0000310784" "CCDC28B" "0000310784" "CEP19" "0000310784" "GLI1" "0000310784" "MKKS" "0000310784" "TMEM67" "0000310785" "C8orf37" "0000310785" "CCDC28B" "0000310785" "CEP19" "0000310785" "GLI1" "0000310785" "MKKS" "0000310785" "TMEM67" "0000310786" "C8orf37" "0000310786" "CCDC28B" "0000310786" "CEP19" "0000310786" "GLI1" "0000310786" "MKKS" "0000310786" "TMEM67" "0000310787" "C8orf37" "0000310787" "CCDC28B" "0000310787" "CEP19" "0000310787" "GLI1" "0000310787" "MKKS" "0000310787" "TMEM67" "0000310788" "C8orf37" "0000310788" "CCDC28B" "0000310788" "CEP19" "0000310788" "GLI1" "0000310788" "MKKS" "0000310788" "TMEM67" "0000310790" "C8orf37" "0000310790" "CCDC28B" "0000310790" "CEP19" "0000310790" "GLI1" "0000310790" "MKKS" "0000310790" "TMEM67" "0000319183" "TMEM67" "0000321104" "FGFR1" "0000321104" "TMEM67" ## 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 = 186 "{{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}}" "0000001264" "0" "50" "8" "94807731" "94807731" "subst" "0.00000812506" "00002" "TMEM67_000001" "g.94807731T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.93795503T>C" "" "VUS" "" "0000016636" "0" "77" "8" "94767303" "94767303" "subst" "0" "00015" "TMEM67_000002" "g.94767303A>G" "" "{PMID:Tallila et al. 2009:19466712}" "" "c.161A>G: p.Tyr54Cys" "1 European MKS3 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93755075A>G" "" "likely pathogenic" "" "0000016637" "21" "99" "8" "94768004" "94768004" "del" "0" "00015" "TMEM67_000003" "g.94768004del" "" "{PMID:Consugar et al. 2007:17377820}" "" "IVS1-2delA: 224del89: G75fsX89: Skips exon 2" "RNA skips exon 2;1 German-Polish MKS3 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93755776del" "" "pathogenic" "" "0000016638" "3" "99" "8" "94770781" "94770782" "del" "0" "00015" "TMEM67_000004" "g.94770781_94770782del" "" "{PMID:Smith et al. 2006:16415887}" "" "383-384delAC: H128fsX140" "1 Omani MKS3 family (hom); not in 120 controls" "SUMMARY record" "yes" "" "0" "" "" "g.93758553_93758554del" "" "pathogenic" "" "0000016639" "11" "99" "8" "94777802" "94777802" "del" "0.00000406204" "00015" "TMEM67_000005" "g.94777802del" "" "{PMID:Consugar et al. 2007:17377820}, {PMID:Iannicelli et al. 2010:20232449}" "" "579delA: T193fsX221" "2 European MKS3 families (1 hom and 1 com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93765574del" "" "pathogenic" "" "0000016640" "0" "99" "8" "94777845" "94777845" "subst" "0.000178714" "00015" "TMEM67_000006" "g.94777845A>T" "" "{PMID:Consugar et al. 2007:17377820}, {PMID:Kahaddour et al. 2007:17397051}" "" "622A>T: R208X" "4 European MKS3 families (all com-het)" "SUMMARY record" "yes" "rs137853108" "" "" "" "g.93765617A>T" "" "pathogenic" "" "0000016641" "3" "99" "8" "94777871" "94777871" "del" "0" "00015" "TMEM67_000007" "g.94777871del" "0/120 CON" "{PMID:Smith et al. 2006:16415887}" "" "c.647delA: E216fsX221" "1 Pakistani MKS3 family (hom)" "SUMMARY record" "yes" "" "" "" "" "g.93765643del" "" "pathogenic" "" "0000016642" "0" "77" "8" "94777876" "94777876" "subst" "0.0000568787" "00015" "TMEM67_000008" "g.94777876T>G" "" "{PMID:Kahaddour et al. 2007:17397051}" "" "c.651+2G>T: Splicing" "affects splicing;1 French MKS3 family (com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.93765648T>G" "" "likely pathogenic" "" "0000016643" "0" "77" "8" "94792840" "94792840" "subst" "0" "00015" "TMEM67_000009" "g.94792840C>T" "" "{PMID:Tallila et al. 2009:19466712}" "" "c.734C>T: p.Ser245Phe" "1 European MKS3 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93780612C>T" "" "likely pathogenic" "" "0000016644" "0" "77" "8" "94792861" "94792861" "subst" "0.0000853263" "00015" "TMEM67_000010" "g.94792861T>C" "0/25 CON" "{PMID:Consugar et al. 2007:17377820}, {PMID:Kahaddour et al. 2007:17397051}, {PMID:Tallila et al. 2009:19466712}, {PMID:Iannicelli et al. 2010:20232449}" "" "755T>C: M252T" "5 European MKS3 families (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93780633T>C" "" "likely pathogenic" "" "0000016645" "3" "77" "8" "94793100" "94793100" "subst" "0" "00015" "TMEM67_000011" "g.94793100A>G" "0/120 CON" "{PMID:Smith et al. 2006:16415887}, {PMID:Kahaddour et al. 2007:17397051}" "" "INV8-2A>G: Splice change" "affects splicing;2 Pakistani MKS3 family (hom)" "SUMMARY record" "yes" "" "0" "" "" "g.93780872A>G" "" "likely pathogenic" "" "0000016647" "0" "77" "8" "94793120" "94793120" "subst" "0.00000812691" "00015" "TMEM67_000013" "g.94793120G>T" "" "{PMID:Tallila et al. 2009:19466712}" "" "c.888G>T: p.Trp296Cys" "1 European MKS3 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93780892G>T" "" "likely pathogenic" "" "0000016648" "21" "77" "8" "94793953" "94793953" "subst" "0.0000204268" "00015" "TMEM67_000014" "g.94793953T>C" "" "{PMID:Kahaddour et al. 2007:17397051}, {PMID:Iannicelli et al. 2010:20232449}" "" "c.1046T>C: p.L349S" "2 French (com-het) and 1 Algerian MKS3 family (hom)" "SUMMARY record" "yes" "" "" "" "" "g.93781725T>C" "" "likely pathogenic" "" "0000016649" "3" "77" "8" "94793973" "94793973" "del" "0" "00015" "TMEM67_000015" "g.94793973del" "" "{PMID:Kahaddour et al. 2007:17397051}" "" "c.1065+1delG: splice" "affects splicing;1 Palestinian MKS3 family (hom)" "SUMMARY record" "yes" "" "" "" "" "g.93781745del" "" "likely pathogenic" "" "0000016650" "3" "99" "8" "94794684" "94794684" "subst" "0" "00015" "TMEM67_000016" "g.94794684A>C" "0/120 CON" "{PMID:Smith et al. 2006:16415887}" "" "c.1127A>C: Q376P" "1 Pakistani MKS3 family (hom)" "SUMMARY record" "yes" "rs137853106" "" "" "" "g.93782456A>C" "" "pathogenic" "" "0000016651" "11" "77" "8" "94798481" "94798481" "subst" "0.0000569022" "00015" "TMEM67_000017" "g.94798481G>A" "0/25 CON" "{PMID:Consugar et al. 2007:17377820}, {PMID:Kahaddour et al. 2007:17397051}, {PMID:Tallila et al. 2009:19466712}, {PMID:Iannicelli et al. 2010:20232449}" "" "1319G>A: R440Q" "4 European MKS3 families (1 hom and 3 com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93786253G>A" "" "likely pathogenic" "" "0000016652" "0" "77" "8" "94798498" "94798498" "subst" "0" "00015" "TMEM67_000018" "g.94798498G>C" "" "{PMID:Kahaddour et al. 2007:17397051}" "" "c.1336G>C: p.D446H" "1 Moroccan MKS3 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93786270G>C" "" "likely pathogenic" "" "0000016653" "21" "99" "8" "94798513" "94798513" "subst" "0.0000040624" "00015" "TMEM67_000019" "g.94798513C>T" "" "{PMID:Consugar et al. 2007:17377820}" "" "1351C>T: R451X" "1 Swedish-German MKS3 family (com-het)" "SUMMARY record" "yes" "rs116647652" "" "" "" "g.93786285C>T" "" "pathogenic" "" "0000016654" "0" "77" "8" "94803510" "94803510" "subst" "0.00000814883" "00015" "TMEM67_000020" "g.94803510A>G" "" "{PMID:Tallila et al. 2009:19466712}" "" "c.1538A>G: p.Tyr513Cys" "1 European MKS3 family (com-het)" "SUMMARY record" "yes" "rs137853107" "" "" "" "g.93791282A>G" "" "likely pathogenic" "" "0000016656" "3" "77" "8" "94803548" "94803548" "subst" "0" "00015" "TMEM67_000021" "g.94803548G>A" "" "{PMID:Kahaddour et al. 2007:17397051}, {PMID:Smith et al. 2006:16415887}" "" "c.1575+1G>A: splice" "affects splicing;3 Pakistani MKS3 families (hom)" "SUMMARY record" "yes" "" "0" "" "" "g.93791320G>A" "" "likely pathogenic" "" "0000016657" "3" "99" "8" "94806581" "94813909" "" "0" "00015" "TMEM67_000023" "g.(94805525_94807636)_(94811987_94815831)del" "" "{PMID:Kahaddour et al. 2007:17397051}" "" "c.1675-?_2241+?del: deletion from exon 17 to 22: p.T559_Q747del" "1 Ivory Coast MKS3 family (hom)" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000016658" "0" "77" "8" "94808198" "94808198" "subst" "0.000158441" "00015" "TMEM67_000024" "g.94808198T>C" "" "{PMID:Tallila et al. 2009:19466712}" "" "c.1843T>C: p.Cys615Arg" "1 European MKS3 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93795970T>C" "" "likely pathogenic" "" "0000016659" "0" "77" "8" "94817106" "94817106" "subst" "0.0000366202" "00015" "TMEM67_000025" "g.94817106G>A" "" "{PMID:Kahaddour et al. 2007:17397051}" "" "c.2439G>A: p.A813A, splice site" "affects splicing;1 Moroccan MKS3 family (com-het). Last nucleotide of exon 24 before 5\' splice donor site." "SUMMARY record" "yes" "" "" "" "" "g.93804878G>A" "" "likely pathogenic" "" "0000016660" "11" "99" "8" "94821285" "94821285" "subst" "0" "00015" "TMEM67_000026" "g.94821285A>T" "" "{PMID:Kahaddour et al. 2007:17397051}" "" "c.2557A>T: p.K853X" "1 French MKS3 family (com-het)." "SUMMARY record" "yes" "" "" "" "" "g.93809057A>T" "" "pathogenic" "" "0000016661" "21" "77" "8" "94827665" "94827665" "subst" "0" "00015" "TMEM67_000027" "g.94827665T>C" "0/25 CON" "{PMID:Consugar et al. 2007:17377820}, {PMID:Tallila et al. 2009:19466712}" "" "2897T>C: L966P" "2 European MKS3 families (both com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93815437T>C" "" "likely pathogenic" "" "0000016662" "11" "99" "8" "94821289" "94821289" "dup" "0" "00015" "TMEM67_000028" "g.94821289dup" "" "{PMID:Iannicelli et al. 2010:20232449}" "" "c.2561dupA: p.N854KfsX5" "1 American MKS3 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93809061dup" "" "pathogenic" "" "0000016663" "21" "77" "8" "94809600" "94809600" "subst" "0" "00015" "TMEM67_000029" "g.94809600T>C" "" "{PMID:Iannicelli et al. 2010:20232449}" "" "c.2002T>C: p.W668R" "1 French MKS3 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93797372T>C" "" "likely pathogenic" "" "0000016664" "21" "99" "8" "94821170" "94821170" "subst" "0" "00015" "TMEM67_000030" "g.94821170G>T" "" "{PMID:Iannicelli et al. 2010:20232449}" "" "c.2542G>T: p.E848X" "1 French MKS3 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93808942G>T" "" "pathogenic" "" "0000016665" "11" "77" "8" "94817024" "94817024" "subst" "0.00000406994" "00015" "TMEM67_000031" "g.94817024G>A" "" "{PMID:Iannicelli et al. 2010:20232449}" "" "c.2357G>A: p.G786E" "1 French MKS3 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93804796G>A" "" "likely pathogenic" "" "0000016666" "11" "77" "8" "94821156" "94821156" "subst" "0" "00015" "TMEM67_000032" "g.94821156A>G" "" "{PMID:Iannicelli et al. 2010:20232449}" "" "c.2528A>G: p.Y843C" "1 Italian MKS3 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93808928A>G" "" "likely pathogenic" "" "0000016667" "11" "99" "8" "94822040" "94822041" "ins" "0" "00015" "TMEM67_000033" "g.94822040_94822041insTA" "" "{PMID:Iannicelli et al. 2010:20232449}" "" "c.2689_2690insTA: p.L897IfsX64" "1 French MKS3 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93809812_93809813insTA" "" "pathogenic" "" "0000016668" "21" "77" "8" "94800071" "94800071" "subst" "0" "00015" "TMEM67_000034" "g.94800071G>C" "" "{PMID:Iannicelli et al. 2010:20232449}" "" "c. T1413-1G>C: Splice" "affects splicing;1 French MKS3 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93787843G>C" "" "likely pathogenic" "" "0000016669" "11" "99" "8" "94815891" "94815891" "del" "0" "00015" "TMEM67_000035" "g.94815891del" "" "{PMID:Iannicelli et al. 2010:20232449}" "" "c.2301delT: p.D768IfsX5" "1 French MKS3 family (com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.93803663del" "" "pathogenic" "" "0000016670" "0" "99" "8" "94803510" "94803511" "del" "0" "00015" "TMEM67_000036" "g.94803510_94803511del" "" "{PMID:Iannicelli et al. 2010:20232449}" "" "c.1538_1539delAT: p.Y513X" "1 Senegal MKS3 family (hom)" "SUMMARY record" "yes" "" "" "" "" "g.93791282_93791283del" "" "pathogenic" "" "0000016671" "11" "99" "8" "94770785" "94770785" "subst" "0.00000812255" "00015" "TMEM67_000037" "g.94770785T>A" "" "{PMID:Iannicelli et al. 2010:20232449}" "" "c.387T>A: p.C129X" "1 Italian MKS3 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93758557T>A" "" "pathogenic" "" "0000016672" "0" "99" "8" "94777802" "94777803" "del" "0.000194978" "00015" "TMEM67_000038" "g.94777802_94777803del" "" "{PMID:Iannicelli et al. 2010:20232449}" "" "c.579_580delAG: p.G195IfsX13" "1 Moroccan MKS3 family (hom)" "SUMMARY record" "yes" "" "" "" "" "g.93765574_93765575del" "" "pathogenic" "" "0000016673" "21" "99" "8" "94784840" "94784840" "subst" "0.0000081416" "00015" "TMEM67_000039" "g.94784840G>A" "" "{PMID:Iannicelli et al. 2010:20232449}" "" "c.675G>A: p.W225X" "1 Italian MKS3 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93772612G>A" "" "pathogenic" "" "0000016674" "21" "77" "8" "94815914" "94815914" "dup" "0" "00015" "TMEM67_000040" "g.94815914dup" "" "{PMID:Iannicelli et al. 2010:20232449}" "" "c.T2322+2dupT: Splice" "affects splicing;1 American MKS3 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93803686dup" "" "likely pathogenic" "" "0000016675" "11" "77" "8" "94798484" "94798484" "subst" "0" "00015" "TMEM67_000041" "g.94798484G>T" "" "{PMID:Iannicelli et al. 2010:20232449}" "" "c.1322G>T: p.R441L" "1 French MKS3 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.93786256G>T" "" "likely pathogenic" "" "0000052249" "3" "70" "8" "94792831" "94792831" "subst" "0.00000406514" "01188" "TMEM67_000042" "g.94792831A>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.93780603A>G" "" "likely pathogenic" "" "0000052291" "1" "70" "8" "94777845" "94777845" "subst" "0.000178714" "01188" "TMEM67_000006" "g.94777845A>T" "" "" "" "" "" "Unknown" "?" "rs137853108" "0" "" "" "g.93765617A>T" "" "likely pathogenic" "" "0000052292" "2" "70" "8" "94794672" "94794672" "subst" "0" "01188" "TMEM67_000043" "g.94794672C>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.93782444C>A" "" "likely pathogenic" "" "0000052293" "1" "70" "8" "94777845" "94777845" "subst" "0.000178714" "01188" "TMEM67_000006" "g.94777845A>T" "" "" "" "" "" "Unknown" "?" "rs137853108" "0" "" "" "g.93765617A>T" "" "likely pathogenic" "" "0000052294" "2" "70" "8" "94821126" "94821126" "subst" "0.0000325261" "01188" "TMEM67_000044" "g.94821126T>C" "" "" "" "" "" "Unknown" "?" "rs267607119" "0" "" "" "g.93808898T>C" "" "likely pathogenic" "" "0000052295" "1" "70" "8" "94792903" "94792903" "subst" "0" "01188" "TMEM67_000045" "g.94792903A>C" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.93780675A>C" "" "likely pathogenic" "" "0000052296" "2" "70" "8" "94821126" "94821126" "subst" "0.0000325261" "01188" "TMEM67_000044" "g.94821126T>C" "" "" "" "" "" "Unknown" "?" "rs267607119" "0" "" "" "g.93808898T>C" "" "likely pathogenic" "" "0000052297" "1" "70" "8" "94767183" "94767183" "subst" "0" "01188" "TMEM67_000046" "g.94767183G>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.93754955G>A" "" "likely pathogenic" "" "0000052298" "2" "70" "8" "94821126" "94821126" "subst" "0.0000325261" "01188" "TMEM67_000044" "g.94821126T>C" "" "" "" "" "" "Unknown" "?" "rs267607119" "0" "" "" "g.93808898T>C" "" "likely pathogenic" "" "0000086051" "3" "90" "8" "94776078" "94776079" "del" "0" "00552" "TMEM67_000047" "g.94776078_94776079del" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.93763850_93763851del" "" "pathogenic" "" "0000086052" "1" "90" "8" "94777641" "94777641" "subst" "0.00000812466" "00552" "TMEM67_000049" "g.94777641C>T" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.93765413C>T" "" "pathogenic" "" "0000086053" "2" "90" "8" "94777845" "94777845" "subst" "0.000178714" "00552" "TMEM67_000006" "g.94777845A>T" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.93765617A>T" "" "pathogenic" "" "0000086054" "3" "90" "8" "94777802" "94777803" "del" "0.000194978" "00552" "TMEM67_000048" "g.94777802_94777803del" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.93765574_93765575del" "" "pathogenic" "" "0000086055" "3" "90" "8" "94798481" "94798481" "subst" "0.0000569022" "00552" "TMEM67_000017" "g.94798481G>A" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.93786253G>A" "" "pathogenic" "" "0000086056" "1" "90" "8" "94809462" "94809462" "subst" "0" "00552" "TMEM67_000050" "g.94809462G>A" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.93797234G>A" "" "pathogenic" "" "0000086057" "2" "90" "8" "94793953" "94793953" "subst" "0.0000204268" "00552" "TMEM67_000014" "g.94793953T>C" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.93781725T>C" "" "pathogenic" "" "0000150686" "1" "90" "8" "94807731" "94807731" "subst" "0.00000812506" "00006" "TMEM67_000001" "g.94807731T>C" "" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "" "" "" "Germline" "" "" "0" "" "" "g.93795503T>C" "" "pathogenic" "" "0000246669" "0" "90" "8" "94777845" "94777845" "subst" "0.000178714" "02330" "TMEM67_000006" "g.94777845A>T" "" "" "" "TMEM67(NM_153704.5):c.622A>T (p.R208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93765617A>T" "" "pathogenic" "" "0000246699" "0" "10" "8" "94776092" "94776092" "subst" "0.00000406293" "02330" "TMEM67_000061" "g.94776092A>T" "" "" "" "TMEM67(NM_153704.5):c.429A>T (p.T143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93763864A>T" "" "benign" "" "0000246700" "0" "10" "8" "94809608" "94809608" "subst" "0.000255929" "02330" "TMEM67_000065" "g.94809608A>G" "" "" "" "TMEM67(NM_153704.5):c.2010A>G (p.T670=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93797380A>G" "" "benign" "" "0000246701" "0" "10" "8" "94828644" "94828644" "subst" "0.00123544" "02330" "TMEM67_000069" "g.94828644A>G" "" "" "" "TMEM67(NM_153704.5):c.2952A>G (p.A984=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93816416A>G" "" "benign" "" "0000246771" "0" "50" "8" "94772225" "94772225" "subst" "0.0000221533" "02330" "TMEM67_000078" "g.94772225A>G" "" "" "" "TMEM67(NM_153704.5):c.406+1421A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93759997A>G" "" "VUS" "" "0000247987" "0" "10" "8" "94808165" "94808165" "subst" "0.639188" "02325" "TMEM67_000064" "g.94808165A>G" "" "" "" "TMEM67(NM_153704.5):c.1810A>G (p.I604V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93795937A>G" "" "benign" "" "0000250830" "0" "90" "8" "94777845" "94777845" "subst" "0.000178714" "02326" "TMEM67_000006" "g.94777845A>T" "" "" "" "TMEM67(NM_153704.5):c.622A>T (p.R208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93765617A>T" "" "pathogenic" "" "0000251432" "0" "10" "8" "94817187" "94817187" "del" "0" "02326" "TMEM67_000089" "g.94817187del" "" "" "" "TMEM67(NM_153704.5):c.2439+81delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93804959del" "" "benign" "" "0000253248" "0" "10" "8" "94808165" "94808165" "subst" "0.639188" "01943" "TMEM67_000064" "g.94808165A>G" "" "" "" "TMEM67(NM_153704.5):c.1810A>G (p.I604V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93795937A>G" "" "benign" "" "0000254220" "0" "30" "8" "94827660" "94827660" "subst" "0.0401654" "01943" "TMEM67_000067" "g.94827660A>C" "" "" "" "TMEM67(NM_153704.5):c.2892A>C (p.T964=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93815432A>C" "" "likely benign" "" "0000255385" "0" "90" "8" "94777845" "94777845" "subst" "0.000178714" "01943" "TMEM67_000006" "g.94777845A>T" "" "" "" "TMEM67(NM_153704.5):c.622A>T (p.R208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93765617A>T" "" "pathogenic" "" "0000255451" "0" "90" "8" "94777802" "94777802" "del" "0.00000406204" "01943" "TMEM67_000080" "g.94777802del" "" "" "" "TMEM67(NM_153704.5):c.579delA (p.G195Dfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93765574del" "" "pathogenic" "" "0000256493" "0" "50" "8" "94793190" "94793190" "subst" "0.00036991" "01943" "TMEM67_000062" "g.94793190A>T" "" "" "" "TMEM67(NM_153704.5):c.958A>T (p.S320C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93780962A>T" "" "VUS" "" "0000256555" "0" "50" "8" "94794635" "94794635" "subst" "0.000365782" "01943" "TMEM67_000063" "g.94794635A>G" "" "" "" "TMEM67(NM_153704.5):c.1078A>G (p.T360A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93782407A>G" "" "VUS" "" "0000309247" "0" "50" "8" "94794630" "94794630" "subst" "0" "02330" "TMEM67_000083" "g.94794630C>T" "" "" "" "TMEM67(NM_153704.5):c.1073C>T (p.P358L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93782402C>T" "" "VUS" "" "0000309248" "0" "10" "8" "94767262" "94767262" "subst" "0.0000609093" "02330" "TMEM67_000053" "g.94767262T>C" "" "" "" "TMEM67(NM_153704.5):c.120T>C (p.S40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93755034T>C" "" "benign" "" "0000309249" "0" "50" "8" "94767266" "94767266" "subst" "0.0000446661" "02330" "TMEM67_000054" "g.94767266C>G" "" "" "" "TMEM67(NM_153704.5):c.124C>G (p.P42A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93755038C>G" "" "VUS" "" "0000309250" "0" "30" "8" "94809681" "94809681" "subst" "0.00000407027" "02330" "TMEM67_000088" "g.94809681G>C" "" "" "" "TMEM67(NM_153704.5):c.2083G>C (p.V695L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93797453G>C" "" "likely benign" "" "0000311897" "0" "30" "8" "94767208" "94767208" "subst" "0" "02325" "TMEM67_000052" "g.94767208G>A" "" "" "" "TMEM67(NM_153704.5):c.66G>A (p.V22=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93754980G>A" "" "likely benign" "" "0000311898" "0" "10" "8" "94792887" "94792887" "subst" "0.0151486" "02325" "TMEM67_000081" "g.94792887G>A" "" "" "" "TMEM67(NM_001142301.1):c.538G>A (p.(Asp180Asn)), TMEM67(NM_153704.5):c.781G>A (p.D261N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93780659G>A" "" "benign" "" "0000313334" "0" "70" "8" "94777876" "94777876" "subst" "0.0000568787" "02329" "TMEM67_000008" "g.94777876T>G" "" "" "" "TMEM67(NM_153704.5):c.651+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93765648T>G" "" "likely pathogenic" "" "0000313335" "0" "30" "8" "94792887" "94792887" "subst" "0.0151486" "02329" "TMEM67_000081" "g.94792887G>A" "" "" "" "TMEM67(NM_001142301.1):c.538G>A (p.(Asp180Asn)), TMEM67(NM_153704.5):c.781G>A (p.D261N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93780659G>A" "" "likely benign" "" "0000314582" "0" "10" "8" "94794620" "94794620" "subst" "0.634303" "02326" "TMEM67_000074" "g.94794620C>T" "" "" "" "TMEM67(NM_153704.5):c.1066-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93782392C>T" "" "benign" "" "0000314583" "0" "10" "8" "94772165" "94772165" "subst" "0.0228906" "02326" "TMEM67_000059" "g.94772165C>T" "" "" "" "TMEM67(NM_001142301.1):c.107C>T (p.(Pro36Leu), p.P36L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93759937C>T" "" "benign" "" "0000314584" "0" "10" "8" "94772183" "94772183" "subst" "0.00190786" "02326" "TMEM67_000060" "g.94772183G>A" "" "" "" "TMEM67(NM_001142301.1):c.125G>A (p.(Cys42Tyr), p.C42Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93759955G>A" "" "benign" "" "0000314585" "0" "30" "8" "94808123" "94808123" "subst" "0" "02326" "TMEM67_000086" "g.94808123T>A" "" "" "" "TMEM67(NM_153704.5):c.1774-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93795895T>A" "" "likely benign" "" "0000314586" "0" "10" "8" "94809185" "94809185" "subst" "0" "02326" "TMEM67_000087" "g.94809185C>T" "" "" "" "TMEM67(NM_153704.5):c.1861-177C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93796957C>T" "" "benign" "" "0000314587" "0" "10" "8" "94768002" "94768003" "del" "0" "02326" "TMEM67_000057" "g.94768002_94768003del" "" "" "" "TMEM67(NM_153704.5):c.224-4_224-3delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93755774_93755775del" "" "benign" "" "0000314588" "0" "10" "8" "94817064" "94817064" "subst" "0.0154566" "02326" "TMEM67_000066" "g.94817064T>C" "" "" "" "TMEM67(NM_153704.5):c.2397T>C (p.D799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93804836T>C" "" "benign" "" "0000314589" "0" "90" "8" "94821126" "94821126" "subst" "0.0000325261" "02326" "TMEM67_000044" "g.94821126T>C" "" "" "" "TMEM67(NM_153704.5):c.2498T>C (p.I833T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93808898T>C" "" "pathogenic" "" "0000314590" "0" "10" "8" "94775176" "94775177" "del" "0" "02326" "TMEM67_000079" "g.94775176_94775177del" "" "" "" "TMEM67(NM_153704.5):c.407-894_407-893delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93762948_93762949del" "" "benign" "" "0000314591" "0" "30" "8" "94792887" "94792887" "subst" "0.0151486" "02326" "TMEM67_000081" "g.94792887G>A" "" "" "" "TMEM67(NM_001142301.1):c.538G>A (p.(Asp180Asn)), TMEM67(NM_153704.5):c.781G>A (p.D261N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93780659G>A" "" "likely benign" "" "0000316742" "0" "10" "8" "94794620" "94794620" "subst" "0.634303" "01943" "TMEM67_000074" "g.94794620C>T" "" "" "" "TMEM67(NM_153704.5):c.1066-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93782392C>T" "" "benign" "" "0000316743" "0" "30" "8" "94767262" "94767262" "subst" "0.0000609093" "01943" "TMEM67_000053" "g.94767262T>C" "" "" "" "TMEM67(NM_153704.5):c.120T>C (p.S40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93755034T>C" "" "likely benign" "" "0000316744" "0" "50" "8" "94807692" "94807692" "subst" "0" "01943" "TMEM67_000085" "g.94807692T>C" "" "" "" "TMEM67(NM_153704.5):c.1730T>C (p.I577T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93795464T>C" "" "VUS" "" "0000316745" "0" "30" "8" "94767328" "94767328" "subst" "0.0012507" "01943" "TMEM67_000055" "g.94767328T>C" "" "" "" "TMEM67(NM_153704.5):c.186T>C (p.C62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93755100T>C" "" "likely benign" "" "0000316746" "0" "50" "8" "94767336" "94767336" "subst" "0" "01943" "TMEM67_000056" "g.94767336G>T" "" "" "" "TMEM67(NM_153704.5):c.194G>T (p.C65F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93755108G>T" "" "VUS" "" "0000316747" "0" "30" "8" "94817064" "94817064" "subst" "0.0154566" "01943" "TMEM67_000066" "g.94817064T>C" "" "" "" "TMEM67(NM_153704.5):c.2397T>C (p.D799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93804836T>C" "" "likely benign" "" "0000316748" "0" "30" "8" "94767167" "94767167" "subst" "0.000447089" "01943" "TMEM67_000051" "g.94767167G>A" "" "" "" "TMEM67(NM_153704.5):c.25G>A (p.V9M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93754939G>A" "" "likely benign" "" "0000316749" "0" "30" "8" "94828620" "94828620" "subst" "0.0000247635" "01943" "TMEM67_000068" "g.94828620T>C" "" "" "" "TMEM67(NM_153704.5):c.2928T>C (p.N976=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93816392T>C" "" "likely benign" "" "0000316750" "0" "30" "8" "94770767" "94770767" "subst" "0.000442661" "01943" "TMEM67_000058" "g.94770767C>T" "" "" "" "TMEM67(NM_153704.5):c.369C>T (p.A123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93758539C>T" "" "likely benign" "" "0000316751" "0" "10" "8" "94792887" "94792887" "subst" "0.0151486" "01943" "TMEM67_000081" "g.94792887G>A" "" "" "" "TMEM67(NM_001142301.1):c.538G>A (p.(Asp180Asn)), TMEM67(NM_153704.5):c.781G>A (p.D261N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93780659G>A" "" "benign" "" "0000316752" "0" "50" "8" "94792963" "94792963" "subst" "0.0000162584" "01943" "TMEM67_000082" "g.94792963C>G" "" "" "" "TMEM67(NM_153704.5):c.857C>G (p.S286C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93780735C>G" "" "VUS" "" "0000332202" "0" "50" "8" "94792823" "94792823" "subst" "0.000097588" "01804" "TMEM67_000104" "g.94792823A>G" "" "" "" "TMEM67(NM_001142301.1):c.474A>G (p.(=)), TMEM67(NM_153704.5):c.717A>G (p.V239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93780595A>G" "" "VUS" "" "0000332203" "0" "30" "8" "94793215" "94793215" "subst" "0.00000406798" "01804" "TMEM67_000106" "g.94793215A>C" "" "" "" "TMEM67(NM_001142301.1):c.735+5A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93780987A>C" "" "likely benign" "" "0000332205" "0" "50" "8" "94798484" "94798484" "subst" "0.0000081279" "01804" "TMEM67_000110" "g.94798484G>A" "" "" "" "TMEM67(NM_001142301.1):c.1079G>A (p.(Arg360His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93786256G>A" "" "VUS" "" "0000332206" "0" "50" "8" "94807662" "94807662" "subst" "0.0000771749" "01804" "TMEM67_000112" "g.94807662A>G" "" "" "" "TMEM67(NM_001142301.1):c.1457A>G (p.(Tyr486Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93795434A>G" "" "VUS" "" "0000332208" "0" "30" "8" "94811986" "94811986" "subst" "0.00193531" "01804" "TMEM67_000075" "g.94811986G>A" "" "" "" "TMEM67(NM_001142301.1):c.1998G>A (p.(=)), TMEM67(NM_153704.5):c.2241G>A (p.Q747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93799758G>A" "" "likely benign" "" "0000338940" "0" "10" "8" "94794620" "94794620" "subst" "0.634303" "02327" "TMEM67_000074" "g.94794620C>T" "" "" "" "TMEM67(NM_153704.5):c.1066-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93782392C>T" "" "benign" "" "0000339014" "0" "90" "8" "94777845" "94777845" "subst" "0.000178714" "02327" "TMEM67_000006" "g.94777845A>T" "" "" "" "TMEM67(NM_153704.5):c.622A>T (p.R208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93765617A>T" "" "pathogenic" "" "0000341115" "0" "50" "8" "94767171" "94767171" "subst" "0.0000121946" "02327" "TMEM67_000070" "g.94767171C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93754943C>T" "" "VUS" "" "0000345636" "0" "50" "8" "94770714" "94770714" "subst" "0.00000407246" "02327" "TMEM67_000071" "g.94770714G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93758486G>A" "" "VUS" "" "0000345826" "0" "90" "8" "94777802" "94777803" "del" "0.000194978" "02327" "TMEM67_000048" "g.94777802_94777803del" "" "" "" "TMEM67(NM_153704.5):c.579_580delAG (p.G195Ifs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93765574_93765575del" "" "pathogenic" "" "0000345871" "0" "50" "8" "94784818" "94784818" "subst" "0.000158676" "02327" "TMEM67_000073" "g.94784818G>C" "" "" "" "TMEM67(NM_153704.5):c.653G>C (p.G218A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93772590G>C" "" "VUS" "" "0000346777" "0" "10" "8" "94808165" "94808165" "subst" "0.639188" "02327" "TMEM67_000064" "g.94808165A>G" "" "" "" "TMEM67(NM_153704.5):c.1810A>G (p.I604V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93795937A>G" "" "benign" "" "0000348339" "0" "10" "8" "94772136" "94772136" "subst" "0" "02327" "TMEM67_000072" "g.94772136C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93759908C>T" "" "benign" "" "0000348935" "0" "50" "8" "94793190" "94793190" "subst" "0.00036991" "02327" "TMEM67_000062" "g.94793190A>T" "" "" "" "TMEM67(NM_153704.5):c.958A>T (p.S320C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93780962A>T" "" "VUS" "" "0000351466" "0" "30" "8" "94811986" "94811986" "subst" "0.00193531" "02327" "TMEM67_000075" "g.94811986G>A" "" "" "" "TMEM67(NM_001142301.1):c.1998G>A (p.(=)), TMEM67(NM_153704.5):c.2241G>A (p.Q747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93799758G>A" "" "likely benign" "" "0000351467" "0" "90" "8" "94811987" "94811987" "subst" "0" "02327" "TMEM67_000076" "g.94811987G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93799759G>A" "" "pathogenic" "" "0000351468" "0" "70" "8" "94821126" "94821126" "subst" "0.0000325261" "02327" "TMEM67_000044" "g.94821126T>C" "" "" "" "TMEM67(NM_153704.5):c.2498T>C (p.I833T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93808898T>C" "" "likely pathogenic" "" "0000357618" "11" "90" "8" "94777845" "94777845" "subst" "0.000178714" "02401" "TMEM67_000006" "g.94777845A>T" "" "{PMID:Brancati 2018:29891882}, {DOI:Brancati 2018:10.1038/s41431-018-0183-6}" "" "" "" "Germline" "" "rs137853108" "0" "" "" "g.93765617A>T" "" "pathogenic (recessive)" "" "0000357619" "21" "90" "8" "94798451" "94798451" "subst" "0" "02401" "TMEM67_000084" "g.94798451A>G" "" "{PMID:Brancati 2018:29891882}, {DOI:Brancati 2018:10.1038/s41431-018-0183-6}" "" "" "effect on splicing investigated with mini-gene splicing assay" "Germline" "" "rs967792092" "0" "" "" "g.93786223A>G" "" "pathogenic (recessive)" "" "0000459819" "3" "90" "8" "94815896" "94815896" "del" "0" "00006" "TMEM67_000090" "g.94815896del" "" "{PMID:Shaheen 2013:23169490}" "" "2306delT" "" "Germline" "" "" "0" "" "" "g.93803668del" "" "pathogenic (recessive)" "" "0000535438" "0" "50" "8" "94767179" "94767179" "subst" "0.000150295" "02330" "TMEM67_000091" "g.94767179G>A" "" "" "" "TMEM67(NM_153704.5):c.37G>A (p.V13I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93754951G>A" "" "VUS" "" "0000535439" "0" "50" "8" "94767279" "94767279" "subst" "0.0000121819" "02329" "TMEM67_000092" "g.94767279C>A" "" "" "" "TMEM67(NM_153704.5):c.137C>A (p.P46Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93755051C>A" "" "VUS" "" "0000535441" "0" "10" "8" "94770767" "94770767" "subst" "0.000442661" "02330" "TMEM67_000058" "g.94770767C>T" "" "" "" "TMEM67(NM_153704.5):c.369C>T (p.A123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93758539C>T" "" "benign" "" "0000535443" "0" "90" "8" "94772104" "94772104" "subst" "0" "01943" "TMEM67_000094" "g.94772104C>T" "" "" "" "TMEM67(NM_001142301.1):c.46C>T (p.R16*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93759876C>T" "" "pathogenic" "" "0000535444" "0" "30" "8" "94772105" "94772105" "subst" "0.0000165131" "01943" "TMEM67_000095" "g.94772105G>A" "" "" "" "TMEM67(NM_001142301.1):c.47G>A (p.R16Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93759877G>A" "" "likely benign" "" "0000535446" "0" "30" "8" "94772165" "94772165" "subst" "0.0228906" "01804" "TMEM67_000059" "g.94772165C>T" "" "" "" "TMEM67(NM_001142301.1):c.107C>T (p.(Pro36Leu), p.P36L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93759937C>T" "" "likely benign" "" "0000535447" "0" "30" "8" "94772183" "94772183" "subst" "0.00190786" "01804" "TMEM67_000060" "g.94772183G>A" "" "" "" "TMEM67(NM_001142301.1):c.125G>A (p.(Cys42Tyr), p.C42Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93759955G>A" "" "likely benign" "" "0000535448" "0" "50" "8" "94777638" "94777638" "subst" "0.00026812" "01943" "TMEM67_000097" "g.94777638G>A" "" "" "" "TMEM67(NM_153704.5):c.511G>A (p.V171I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93765410G>A" "" "VUS" "" "0000535449" "0" "30" "8" "94777688" "94777688" "subst" "0" "01943" "TMEM67_000099" "g.94777688A>G" "" "" "" "TMEM67(NM_153704.5):c.561A>G (p.S187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93765460A>G" "" "likely benign" "" "0000535450" "0" "30" "8" "94777713" "94777713" "subst" "0" "01943" "TMEM67_000100" "g.94777713A>T" "" "" "" "TMEM67(NM_153704.5):c.576+10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93765485A>T" "" "likely benign" "" "0000535451" "0" "30" "8" "94777789" "94777789" "subst" "0" "02330" "TMEM67_000101" "g.94777789T>C" "" "" "" "TMEM67(NM_153704.5):c.577-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93765561T>C" "" "likely benign" "" "0000535452" "0" "50" "8" "94777807" "94777807" "subst" "0.00000406184" "02327" "TMEM67_000102" "g.94777807G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93765579G>T" "" "VUS" "" "0000535453" "0" "50" "8" "94784818" "94784818" "subst" "0.000158676" "01943" "TMEM67_000073" "g.94784818G>C" "" "" "" "TMEM67(NM_153704.5):c.653G>C (p.G218A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93772590G>C" "" "VUS" "" "0000535454" "0" "30" "8" "94784818" "94784818" "subst" "0.000158676" "02326" "TMEM67_000073" "g.94784818G>C" "" "" "" "TMEM67(NM_153704.5):c.653G>C (p.G218A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93772590G>C" "" "likely benign" "" "0000535455" "0" "30" "8" "94792823" "94792823" "subst" "0.000097588" "02326" "TMEM67_000104" "g.94792823A>G" "" "" "" "TMEM67(NM_001142301.1):c.474A>G (p.(=)), TMEM67(NM_153704.5):c.717A>G (p.V239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93780595A>G" "" "likely benign" "" "0000535456" "0" "70" "8" "94792861" "94792861" "subst" "0.0000853263" "01943" "TMEM67_000010" "g.94792861T>C" "" "" "" "TMEM67(NM_153704.5):c.755T>C (p.M252T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93780633T>C" "" "likely pathogenic" "" "0000535457" "0" "90" "8" "94792861" "94792861" "subst" "0.0000853263" "02326" "TMEM67_000010" "g.94792861T>C" "" "" "" "TMEM67(NM_153704.5):c.755T>C (p.M252T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93780633T>C" "" "pathogenic" "" "0000535458" "0" "30" "8" "94792887" "94792887" "subst" "0.0151486" "01804" "TMEM67_000081" "g.94792887G>A" "" "" "" "TMEM67(NM_001142301.1):c.538G>A (p.(Asp180Asn)), TMEM67(NM_153704.5):c.781G>A (p.D261N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93780659G>A" "" "likely benign" "" "0000535459" "0" "50" "8" "94792903" "94792903" "subst" "0" "01804" "TMEM67_000045" "g.94792903A>C" "" "" "" "TMEM67(NM_001142301.1):c.554A>C (p.(Asp185Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93780675A>C" "" "VUS" "" "0000535460" "0" "10" "8" "94792984" "94792984" "subst" "0.000191082" "02330" "TMEM67_000105" "g.94792984A>G" "" "" "" "TMEM67(NM_153704.5):c.869+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93780756A>G" "" "benign" "" "0000535463" "0" "30" "8" "94797463" "94797463" "subst" "0" "02330" "TMEM67_000107" "g.94797463T>G" "" "" "" "TMEM67(NM_153704.5):c.1145T>G (p.I382S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93785235T>G" "" "likely benign" "" "0000535464" "0" "50" "8" "94798471" "94798471" "subst" "0.00202075" "02330" "TMEM67_000109" "g.94798471C>G" "" "" "" "TMEM67(NM_001142301.1):c.1066C>G (p.(Leu356Val)), TMEM67(NM_153704.5):c.1309C>G (p.L437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93786243C>G" "" "VUS" "" "0000535465" "0" "50" "8" "94798471" "94798471" "subst" "0.00202075" "01943" "TMEM67_000109" "g.94798471C>G" "" "" "" "TMEM67(NM_001142301.1):c.1066C>G (p.(Leu356Val)), TMEM67(NM_153704.5):c.1309C>G (p.L437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93786243C>G" "" "VUS" "" "0000535466" "0" "30" "8" "94798471" "94798471" "subst" "0.00202075" "01804" "TMEM67_000109" "g.94798471C>G" "" "" "" "TMEM67(NM_001142301.1):c.1066C>G (p.(Leu356Val)), TMEM67(NM_153704.5):c.1309C>G (p.L437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93786243C>G" "" "likely benign" "" "0000535467" "0" "30" "8" "94798471" "94798471" "subst" "0.00202075" "02326" "TMEM67_000109" "g.94798471C>G" "" "" "" "TMEM67(NM_001142301.1):c.1066C>G (p.(Leu356Val)), TMEM67(NM_153704.5):c.1309C>G (p.L437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93786243C>G" "" "likely benign" "" "0000535468" "0" "30" "8" "94798471" "94798471" "subst" "0.00202075" "02329" "TMEM67_000109" "g.94798471C>G" "" "" "" "TMEM67(NM_001142301.1):c.1066C>G (p.(Leu356Val)), TMEM67(NM_153704.5):c.1309C>G (p.L437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93786243C>G" "" "likely benign" "" "0000535469" "0" "30" "8" "94798541" "94798541" "subst" "0.000292531" "01943" "TMEM67_000111" "g.94798541G>C" "" "" "" "TMEM67(NM_153704.5):c.1379G>C (p.R460T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93786313G>C" "" "likely benign" "" "0000535470" "0" "10" "8" "94808048" "94808048" "del" "0" "02326" "TMEM67_000113" "g.94808048del" "" "" "" "TMEM67(NM_153704.5):c.1774-81delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93795820del" "" "benign" "" "0000535471" "0" "50" "8" "94808192" "94808192" "subst" "0" "01943" "TMEM67_000114" "g.94808192G>A" "" "" "" "TMEM67(NM_153704.5):c.1837G>A (p.V613I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93795964G>A" "" "VUS" "" "0000535472" "0" "50" "8" "94809396" "94809396" "subst" "0.00000406455" "01943" "TMEM67_000115" "g.94809396T>G" "" "" "" "TMEM67(NM_153704.5):c.1895T>G (p.I632S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93797168T>G" "" "VUS" "" "0000535473" "0" "50" "8" "94811986" "94811986" "subst" "0.00193531" "02330" "TMEM67_000075" "g.94811986G>A" "" "" "" "TMEM67(NM_001142301.1):c.1998G>A (p.(=)), TMEM67(NM_153704.5):c.2241G>A (p.Q747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93799758G>A" "" "VUS" "" "0000535475" "0" "50" "8" "94811986" "94811986" "subst" "0.00193531" "02326" "TMEM67_000075" "g.94811986G>A" "" "" "" "TMEM67(NM_001142301.1):c.1998G>A (p.(=)), TMEM67(NM_153704.5):c.2241G>A (p.Q747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93799758G>A" "" "VUS" "" "0000535476" "0" "50" "8" "94811986" "94811986" "subst" "0.00193531" "02329" "TMEM67_000075" "g.94811986G>A" "" "" "" "TMEM67(NM_001142301.1):c.1998G>A (p.(=)), TMEM67(NM_153704.5):c.2241G>A (p.Q747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93799758G>A" "" "VUS" "" "0000535477" "0" "90" "8" "94815880" "94815880" "subst" "0.00000406415" "02330" "TMEM67_000117" "g.94815880C>T" "" "" "" "TMEM67(NM_153704.5):c.2290C>T (p.R764*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93803652C>T" "" "pathogenic" "" "0000535478" "0" "50" "8" "94815889" "94815889" "subst" "0.000142263" "02330" "TMEM67_000118" "g.94815889G>A" "" "" "" "TMEM67(NM_001142301.1):c.2056G>A (p.(Val686Ile)), TMEM67(NM_153704.5):c.2299G>A (p.V767I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93803661G>A" "" "VUS" "" "0000535479" "0" "30" "8" "94815889" "94815889" "subst" "0.000142263" "01804" "TMEM67_000118" "g.94815889G>A" "" "" "" "TMEM67(NM_001142301.1):c.2056G>A (p.(Val686Ile)), TMEM67(NM_153704.5):c.2299G>A (p.V767I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93803661G>A" "" "likely benign" "" "0000535480" "0" "10" "8" "94817022" "94817022" "subst" "0" "02330" "TMEM67_000119" "g.94817022T>C" "" "" "" "TMEM67(NM_153704.5):c.2355T>C (p.F785=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93804794T>C" "" "benign" "" "0000535482" "0" "30" "8" "94821062" "94821062" "subst" "0.000713203" "01943" "TMEM67_000120" "g.94821062T>C" "" "" "" "TMEM67(NM_153704.5):c.2440-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93808834T>C" "" "likely benign" "" "0000535483" "0" "90" "8" "94821126" "94821126" "subst" "0.0000325261" "01943" "TMEM67_000044" "g.94821126T>C" "" "" "" "TMEM67(NM_153704.5):c.2498T>C (p.I833T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93808898T>C" "" "pathogenic" "" "0000535484" "0" "30" "8" "94821188" "94821188" "subst" "0.0000406954" "01804" "TMEM67_000121" "g.94821188T>G" "" "" "" "TMEM67(NM_001142301.1):c.2313+4T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93808960T>G" "" "likely benign" "" "0000535485" "0" "50" "8" "94821388" "94821388" "subst" "0.00000408827" "02330" "TMEM67_000122" "g.94821388A>G" "" "" "" "TMEM67(NM_153704.5):c.2660A>G (p.H887R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93809160A>G" "" "VUS" "" "0000535486" "0" "10" "8" "94827684" "94827684" "subst" "0.000102621" "02330" "TMEM67_000123" "g.94827684T>C" "" "" "" "TMEM67(NM_153704.5):c.2907+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93815456T>C" "" "benign" "" "0000597572" "11" "90" "8" "94792831" "94792831" "subst" "0.00000406514" "02320" "TMEM67_000042" "g.94792831A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.93780603A>G" "212652" "likely pathogenic (recessive)" "" "0000597573" "21" "90" "8" "94770708" "94770708" "subst" "0" "02320" "TMEM67_000125" "g.94770708T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.93758480T>G" "" "likely pathogenic (recessive)" "" "0000602991" "3" "70" "8" "94798500" "94798512" "del" "0" "01164" "TMEM67_000126" "g.94798500_94798512del" "" "" "" "" "ACMG: PVS1,PM2; detected in prenatal test - parents consaguinous" "Germline" "" "" "0" "" "" "g.93786272_93786284del" "" "likely pathogenic" "ACMG" "0000611724" "0" "30" "8" "94767256" "94767256" "subst" "0" "01943" "TMEM67_000129" "g.94767256C>T" "" "" "" "TMEM67(NM_153704.5):c.114C>T (p.T38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93755028C>T" "" "likely benign" "" "0000611725" "0" "90" "8" "94777802" "94777803" "del" "0.000194978" "02330" "TMEM67_000048" "g.94777802_94777803del" "" "" "" "TMEM67(NM_153704.5):c.579_580delAG (p.G195Ifs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93765574_93765575del" "" "pathogenic" "" "0000620292" "1" "90" "8" "94770727" "94770727" "subst" "0.0000040622" "00006" "TMEM67_000128" "g.94770727A>G" "" "{PMID:Tsurusaki 2013:23034536}" "" "" "" "Germline" "" "" "0" "" "" "g.93758499A>G" "" "pathogenic (recessive)" "" "0000620296" "2" "90" "8" "94815917" "94815917" "del" "0.00000406646" "00006" "TMEM67_000127" "g.94815917del" "" "{PMID:Tsurusaki 2013:23034536}" "" "2322+5delG" "" "Germline" "" "" "0" "" "" "g.93803689del" "" "pathogenic (recessive)" "" "0000622097" "0" "70" "8" "94768096" "94768096" "subst" "0" "02330" "TMEM67_000130" "g.94768096T>G" "" "" "" "TMEM67(NM_153704.5):c.312+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93755868T>G" "" "likely pathogenic" "" "0000652535" "1" "10" "8" "94772165" "94772165" "subst" "0.0228906" "03575" "TMEM67_000059" "g.94772165C>T" "87/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "87 heterozygous, no homozygous; {DB:CLININrs73324992}" "Germline" "" "rs73324992" "0" "" "" "g.93759937C>T" "" "benign" "" "0000652537" "1" "10" "8" "94792887" "94792887" "subst" "0.0151486" "03575" "TMEM67_000081" "g.94792887G>A" "137/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "137 heterozygous, no homozygous; {DB:CLININrs35793208}" "Germline" "" "rs35793208" "0" "" "" "g.93780659G>A" "" "benign" "" "0000652538" "1" "50" "8" "94798484" "94798484" "subst" "0" "03575" "TMEM67_000041" "g.94798484G>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs386834183}" "Germline" "" "rs386834183" "0" "" "" "g.93786256G>T" "" "VUS" "" "0000652539" "1" "90" "8" "94803510" "94803510" "subst" "0.00000814883" "03575" "TMEM67_000020" "g.94803510A>G" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs137853107}" "Germline" "" "rs137853107" "0" "" "" "g.93791282A>G" "" "pathogenic" "" "0000652541" "1" "90" "8" "94821126" "94821126" "subst" "0.0000325261" "03575" "TMEM67_000044" "g.94821126T>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs267607119}" "Germline" "" "rs267607119" "0" "" "" "g.93808898T>C" "" "pathogenic" "" "0000670025" "3" "10" "8" "94817064" "94817064" "subst" "0.0154566" "03575" "TMEM67_000066" "g.94817064T>C" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs117195541}" "Germline" "" "rs117195541" "0" "" "" "g.93804836T>C" "" "benign" "" "0000685768" "1" "70" "8" "94817064" "94817064" "subst" "0.0154566" "00006" "TMEM67_000066" "g.94817064T>C" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "" "0" "" "" "g.93804836T>C" "" "likely pathogenic" "" "0000685773" "1" "70" "8" "94817064" "94817064" "subst" "0.0154566" "00006" "TMEM67_000066" "g.94817064T>C" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "" "0" "" "" "g.93804836T>C" "" "likely pathogenic" "" "0000685780" "1" "70" "8" "94817064" "94817064" "subst" "0.0154566" "00006" "TMEM67_000066" "g.94817064T>C" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "" "0" "" "" "g.93804836T>C" "" "likely pathogenic" "" "0000685785" "1" "70" "8" "94817064" "94817064" "subst" "0.0154566" "00006" "TMEM67_000066" "g.94817064T>C" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "" "0" "" "" "g.93804836T>C" "" "likely pathogenic" "" "0000685790" "1" "70" "8" "94817064" "94817064" "subst" "0.0154566" "00006" "TMEM67_000066" "g.94817064T>C" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "" "0" "" "" "g.93804836T>C" "" "likely pathogenic" "" "0000685796" "1" "70" "8" "94817064" "94817064" "subst" "0.0154566" "00006" "TMEM67_000066" "g.94817064T>C" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "" "0" "" "" "g.93804836T>C" "" "likely pathogenic" "" "0000690328" "0" "90" "8" "94777641" "94777641" "subst" "0.00000812466" "02326" "TMEM67_000049" "g.94777641C>T" "" "" "" "TMEM67(NM_153704.5):c.514C>T (p.R172*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690329" "0" "90" "8" "94803510" "94803510" "subst" "0.00000814883" "02326" "TMEM67_000020" "g.94803510A>G" "" "" "" "TMEM67(NM_153704.5):c.1538A>G (p.Y513C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690330" "0" "70" "8" "94809361" "94809361" "subst" "0" "02330" "TMEM67_000131" "g.94809361G>A" "" "" "" "TMEM67(NM_153704.5):c.1861-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000701847" "3" "50" "8" "94768056" "94768056" "subst" "0.0000123967" "00006" "TMEM67_000132" "g.94768056G>A" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.93755828G>A" "" "VUS" "" "0000703894" "3" "70" "8" "94827616" "94827616" "subst" "0.00000406947" "00006" "TMEM67_000133" "g.94827616G>A" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.93815388G>A" "" "likely 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 TMEM67 ## Count = 186 "{{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}}" "0000001264" "00000140" "50" "1769" "0" "1769" "0" "c.1769T>C" "r.(?)" "p.(Phe590Ser)" "17" "0000016636" "00000140" "77" "161" "0" "161" "0" "c.161A>G" "r.(161a>g)" "p.(Tyr54Cys)" "1b" "0000016637" "00000140" "99" "224" "-2" "224" "-2" "c.224-2del" "r.224_312del" "p.(Gly75Glufs*15)" "1i" "0000016638" "00000140" "99" "383" "0" "384" "0" "c.383_384del" "r.(383_384del)" "p.(His128Leufs*13)" "3a" "0000016639" "00000140" "99" "579" "0" "579" "0" "c.579del" "r.(?)" "p.(Gly195Aspfs*27)" "7" "0000016640" "00000140" "99" "622" "0" "622" "0" "c.622A>T" "r.(622a>u)" "p.(Arg208*)" "7" "0000016641" "00000140" "99" "648" "0" "648" "0" "c.648del" "r.(?)" "p.(Val217Leufs*5)" "7" "0000016642" "00000140" "77" "651" "2" "651" "2" "c.651+2T>G" "r.spl?" "p.?" "7i" "0000016643" "00000140" "77" "734" "0" "734" "0" "c.734C>T" "r.(734c>u)" "p.(Ser245Phe)" "9" "0000016644" "00000140" "77" "755" "0" "755" "0" "c.755T>C" "r.(755u>c)" "p.(Met252Thr)" "9" "0000016645" "00000140" "77" "870" "-2" "870" "-2" "c.870-2A>G" "r.spl" "p.?" "9i" "0000016647" "00000140" "77" "888" "0" "888" "0" "c.888G>T" "r.(888g>u)" "p.(Trp296Cys)" "10" "0000016648" "00000140" "77" "1046" "0" "1046" "0" "c.1046T>C" "r.(1046t>c)" "p.(Leu349Ser)" "11" "0000016649" "00000140" "77" "1065" "1" "1065" "1" "c.1065+1del" "r.spl?" "p.(Gln355HisfsTer10)" "11i" "0000016650" "00000140" "99" "1127" "0" "1127" "0" "c.1127A>C" "r.(1127a>c)" "p.(Gln376Pro)" "12" "0000016651" "00000140" "77" "1319" "0" "1319" "0" "c.1319G>A" "r.(1319g>a)" "p.(Arg440Gln)" "14" "0000016652" "00000140" "77" "1336" "0" "1336" "0" "c.1336G>C" "r.(1336g>c)" "p.(Asp446His)" "14" "0000016653" "00000140" "99" "1351" "0" "1351" "0" "c.1351C>T" "r.(1351c>u)" "p.(Arg451*)" "14" "0000016654" "00000140" "77" "1538" "0" "1538" "0" "c.1538A>G" "r.(1538a>g)" "p.(Tyr513Cys)" "16" "0000016656" "00000140" "77" "1575" "1" "1575" "1" "c.1575+1G>A" "r.spl" "p.?" "16i" "0000016657" "00000140" "99" "1675" "0" "2242" "0" "c.(1674+1_1675-1)_(2241+1_2242-1)del" "r.1675_2241del" "p.Thr559_Gln747del" "16i_21i" "0000016658" "00000140" "77" "1843" "0" "1843" "0" "c.1843T>C" "r.(1843u>c)" "p.(Cys615Arg)" "19" "0000016659" "00000140" "77" "2439" "0" "2439" "0" "c.2439G>A" "r.[2439G>A, spl?]" "p.[=, ?]" "24" "0000016660" "00000140" "99" "2557" "0" "2557" "0" "c.2557A>T" "r.(2557a>t)" "p.(Lys853*)" "26" "0000016661" "00000140" "77" "2897" "0" "2897" "0" "c.2897T>C" "r.(2897u>c)" "p.(Leu966Pro)" "28" "0000016662" "00000140" "99" "2561" "0" "2561" "0" "c.2561dup" "r.(?)" "p.(Asn854Lysfs*5)" "26" "0000016663" "00000140" "77" "2002" "0" "2002" "0" "c.2002T>C" "r.(2002u>c)" "p.(Trp668Arg)" "21" "0000016664" "00000140" "99" "2542" "0" "2542" "0" "c.2542G>T" "r.(2542g>u)" "p.(Glu848*)" "25" "0000016665" "00000140" "77" "2357" "0" "2357" "0" "c.2357G>A" "r.(2357g>a)" "p.(Gly786Glu)" "24" "0000016666" "00000140" "77" "2528" "0" "2528" "0" "c.2528A>G" "r.(2528a>g)" "p.(Tyr843Cys)" "25" "0000016667" "00000140" "99" "2689" "0" "2690" "0" "c.2689_2690insTA" "r.(2689_2690insua)" "p.(Lys897Ilefs*64)" "27" "0000016668" "00000140" "77" "1413" "-1" "1413" "-1" "c.1413-1G>C" "r.spl?" "p.?" "14i" "0000016669" "00000140" "99" "2301" "0" "2301" "0" "c.2301del" "r.(2301del)" "p.(Asp768Ilefs*5)" "23" "0000016670" "00000140" "99" "1538" "0" "1539" "0" "c.1538_1539del" "r.(?)" "p.(Tyr513*)" "16" "0000016671" "00000140" "99" "387" "0" "387" "0" "c.387T>A" "r.(387u>a)" "p.(Cys129*)" "3a" "0000016672" "00000140" "99" "579" "0" "580" "0" "c.579_580del" "r.(?)" "p.(Gly195Ilefs*13)" "7" "0000016673" "00000140" "99" "675" "0" "675" "0" "c.675G>A" "r.(675g>a)" "p.(Trp225*)" "8" "0000016674" "00000140" "77" "2322" "2" "2322" "2" "c.2322+2dup" "r.spl?" "p.?" "23i" "0000016675" "00000140" "77" "1322" "0" "1322" "0" "c.1322G>T" "r.(1322g>u)" "p.(Arg441Leu)" "14" "0000052249" "00000140" "70" "725" "0" "725" "0" "c.725A>G" "r.(?)" "p.(Asn242Ser)" "8" "0000052291" "00000140" "70" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "6" "0000052292" "00000140" "70" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Thr372Lys)" "11" "0000052293" "00000140" "70" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "6" "0000052294" "00000140" "70" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "24" "0000052295" "00000140" "70" "797" "0" "797" "0" "c.797A>C" "r.(?)" "p.(Asp266Ala)" "8" "0000052296" "00000140" "70" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "24" "0000052297" "00000140" "70" "41" "0" "41" "0" "c.41G>A" "r.(?)" "p.(Trp14*)" "1" "0000052298" "00000140" "70" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "24" "0000086051" "00000140" "90" "415" "0" "416" "0" "c.415_416del" "r.(?)" "p.(Asp139Hisfs*2)" "4" "0000086052" "00000140" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172*)" "5" "0000086053" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "6" "0000086054" "00000140" "90" "579" "0" "580" "0" "c.579_580del" "r.(?)" "p.(Gly195Ilefs*13)" "6" "0000086055" "00000140" "90" "1319" "0" "1319" "0" "c.1319G>A" "r.(?)" "p.(Arg440Gln)" "13" "0000086056" "00000140" "90" "1960" "1" "1960" "1" "c.1960+1G>A" "r.spl?" "p.?" "19i" "0000086057" "00000140" "90" "1046" "0" "1046" "0" "c.1046T>C" "r.(?)" "p.(Leu349Ser)" "10" "0000150686" "00000140" "90" "1769" "0" "1769" "0" "c.1769T>C" "r.(?)" "p.(Phe590Ser)" "" "0000246669" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208Ter)" "" "0000246699" "00000140" "10" "429" "0" "429" "0" "c.429A>T" "r.(?)" "p.(Thr143=)" "" "0000246700" "00000140" "10" "2010" "0" "2010" "0" "c.2010A>G" "r.(?)" "p.(Thr670=)" "" "0000246701" "00000140" "10" "2952" "0" "2952" "0" "c.2952A>G" "r.(?)" "p.(Ala984=)" "" "0000246771" "00000140" "50" "406" "1421" "406" "1421" "c.406+1421A>G" "r.(=)" "p.(=)" "" "0000247987" "00000140" "10" "1810" "0" "1810" "0" "c.1810A>G" "r.(?)" "p.(Ile604Val)" "" "0000250830" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208Ter)" "" "0000251432" "00000140" "10" "2439" "81" "2439" "81" "c.2439+81del" "r.(=)" "p.(=)" "" "0000253248" "00000140" "10" "1810" "0" "1810" "0" "c.1810A>G" "r.(?)" "p.(Ile604Val)" "" "0000254220" "00000140" "30" "2892" "0" "2892" "0" "c.2892A>C" "r.(?)" "p.(Thr964=)" "" "0000255385" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208Ter)" "" "0000255451" "00000140" "90" "579" "0" "579" "0" "c.579del" "r.(?)" "p.(Gly195AspfsTer27)" "" "0000256493" "00000140" "50" "958" "0" "958" "0" "c.958A>T" "r.(?)" "p.(Ser320Cys)" "" "0000256555" "00000140" "50" "1078" "0" "1078" "0" "c.1078A>G" "r.(?)" "p.(Thr360Ala)" "" "0000309247" "00000140" "50" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Pro358Leu)" "" "0000309248" "00000140" "10" "120" "0" "120" "0" "c.120T>C" "r.(?)" "p.(Ser40=)" "" "0000309249" "00000140" "50" "124" "0" "124" "0" "c.124C>G" "r.(?)" "p.(Pro42Ala)" "" "0000309250" "00000140" "30" "2083" "0" "2083" "0" "c.2083G>C" "r.(?)" "p.(Val695Leu)" "" "0000311897" "00000140" "30" "66" "0" "66" "0" "c.66G>A" "r.(?)" "p.(Val22=)" "" "0000311898" "00000140" "10" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Asp261Asn)" "" "0000313334" "00000140" "70" "651" "2" "651" "2" "c.651+2T>G" "r.spl?" "p.?" "" "0000313335" "00000140" "30" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Asp261Asn)" "" "0000314582" "00000140" "10" "1066" "-3" "1066" "-3" "c.1066-3C>T" "r.spl?" "p.?" "" "0000314583" "00000140" "10" "406" "1361" "406" "1361" "c.406+1361C>T" "r.(=)" "p.(=)" "" "0000314584" "00000140" "10" "406" "1379" "406" "1379" "c.406+1379G>A" "r.(=)" "p.(=)" "" "0000314585" "00000140" "30" "1774" "-6" "1774" "-6" "c.1774-6T>A" "r.(=)" "p.(=)" "" "0000314586" "00000140" "10" "1861" "-177" "1861" "-177" "c.1861-177C>T" "r.(=)" "p.(=)" "" "0000314587" "00000140" "10" "224" "-4" "224" "-3" "c.224-4_224-3del" "r.spl?" "p.?" "" "0000314588" "00000140" "10" "2397" "0" "2397" "0" "c.2397T>C" "r.(?)" "p.(Asp799=)" "" "0000314589" "00000140" "90" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000314590" "00000140" "10" "407" "-894" "407" "-893" "c.407-894_407-893del" "r.(=)" "p.(=)" "" "0000314591" "00000140" "30" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Asp261Asn)" "" "0000316742" "00000140" "10" "1066" "-3" "1066" "-3" "c.1066-3C>T" "r.spl?" "p.?" "" "0000316743" "00000140" "30" "120" "0" "120" "0" "c.120T>C" "r.(?)" "p.(Ser40=)" "" "0000316744" "00000140" "50" "1730" "0" "1730" "0" "c.1730T>C" "r.(?)" "p.(Ile577Thr)" "" "0000316745" "00000140" "30" "186" "0" "186" "0" "c.186T>C" "r.(?)" "p.(Cys62=)" "" "0000316746" "00000140" "50" "194" "0" "194" "0" "c.194G>T" "r.(?)" "p.(Cys65Phe)" "" "0000316747" "00000140" "30" "2397" "0" "2397" "0" "c.2397T>C" "r.(?)" "p.(Asp799=)" "" "0000316748" "00000140" "30" "25" "0" "25" "0" "c.25G>A" "r.(?)" "p.(Val9Met)" "" "0000316749" "00000140" "30" "2928" "0" "2928" "0" "c.2928T>C" "r.(?)" "p.(Asn976=)" "" "0000316750" "00000140" "30" "369" "0" "369" "0" "c.369C>T" "r.(?)" "p.(Ala123=)" "" "0000316751" "00000140" "10" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Asp261Asn)" "" "0000316752" "00000140" "50" "857" "0" "857" "0" "c.857C>G" "r.(?)" "p.(Ser286Cys)" "" "0000332202" "00000140" "50" "717" "0" "717" "0" "c.717A>G" "r.(?)" "p.(Val239=)" "" "0000332203" "00000140" "30" "978" "5" "978" "5" "c.978+5A>C" "r.spl?" "p.?" "" "0000332205" "00000140" "50" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Arg441His)" "" "0000332206" "00000140" "50" "1700" "0" "1700" "0" "c.1700A>G" "r.(?)" "p.(Tyr567Cys)" "" "0000332208" "00000140" "30" "2241" "0" "2241" "0" "c.2241G>A" "r.(?)" "p.(Gln747=)" "" "0000338940" "00000140" "10" "1066" "-3" "1066" "-3" "c.1066-3C>T" "r.spl?" "p.?" "" "0000339014" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208Ter)" "" "0000341115" "00000140" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Ala10Val)" "" "0000345636" "00000140" "50" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Gly106Ser)" "" "0000345826" "00000140" "90" "579" "0" "580" "0" "c.579_580del" "r.(?)" "p.(Gly195IlefsTer13)" "" "0000345871" "00000140" "50" "653" "0" "653" "0" "c.653G>C" "r.(?)" "p.(Gly218Ala)" "" "0000346777" "00000140" "10" "1810" "0" "1810" "0" "c.1810A>G" "r.(?)" "p.(Ile604Val)" "" "0000348339" "00000140" "10" "406" "1332" "406" "1332" "c.406+1332C>T" "r.(=)" "p.(=)" "" "0000348935" "00000140" "50" "958" "0" "958" "0" "c.958A>T" "r.(?)" "p.(Ser320Cys)" "" "0000351466" "00000140" "30" "2241" "0" "2241" "0" "c.2241G>A" "r.(?)" "p.(Gln747=)" "" "0000351467" "00000140" "90" "2241" "1" "2241" "1" "c.2241+1G>A" "r.spl?" "p.?" "" "0000351468" "00000140" "70" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000357618" "00000140" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Arg208*)" "6" "0000357619" "00000140" "90" "1289" "0" "1289" "0" "c.1289A>G" "r.(1289_1412del)" "p.(Asp430Serfs*9)" "13" "0000459819" "00000140" "90" "2306" "0" "2306" "0" "c.2306del" "r.(?)" "p.(Leu769Tyrfs*4)" "" "0000535438" "00000140" "50" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Val13Ile)" "" "0000535439" "00000140" "50" "137" "0" "137" "0" "c.137C>A" "r.(?)" "p.(Pro46Gln)" "" "0000535441" "00000140" "10" "369" "0" "369" "0" "c.369C>T" "r.(?)" "p.(Ala123=)" "" "0000535443" "00000140" "90" "406" "1300" "406" "1300" "c.406+1300C>T" "r.(=)" "p.(=)" "" "0000535444" "00000140" "30" "406" "1301" "406" "1301" "c.406+1301G>A" "r.(=)" "p.(=)" "" "0000535446" "00000140" "30" "406" "1361" "406" "1361" "c.406+1361C>T" "r.(=)" "p.(=)" "" "0000535447" "00000140" "30" "406" "1379" "406" "1379" "c.406+1379G>A" "r.(=)" "p.(=)" "" "0000535448" "00000140" "50" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Val171Ile)" "" "0000535449" "00000140" "30" "561" "0" "561" "0" "c.561A>G" "r.(?)" "p.(Ser187=)" "" "0000535450" "00000140" "30" "576" "10" "576" "10" "c.576+10A>T" "r.(=)" "p.(=)" "" "0000535451" "00000140" "30" "577" "-11" "577" "-11" "c.577-11T>C" "r.(=)" "p.(=)" "" "0000535452" "00000140" "50" "584" "0" "584" "0" "c.584G>T" "r.(?)" "p.(Gly195Val)" "" "0000535453" "00000140" "50" "653" "0" "653" "0" "c.653G>C" "r.(?)" "p.(Gly218Ala)" "" "0000535454" "00000140" "30" "653" "0" "653" "0" "c.653G>C" "r.(?)" "p.(Gly218Ala)" "" "0000535455" "00000140" "30" "717" "0" "717" "0" "c.717A>G" "r.(?)" "p.(Val239=)" "" "0000535456" "00000140" "70" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "" "0000535457" "00000140" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Met252Thr)" "" "0000535458" "00000140" "30" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Asp261Asn)" "" "0000535459" "00000140" "50" "797" "0" "797" "0" "c.797A>C" "r.(?)" "p.(Asp266Ala)" "" "0000535460" "00000140" "10" "869" "9" "869" "9" "c.869+9A>G" "r.(=)" "p.(=)" "" "0000535463" "00000140" "30" "1145" "0" "1145" "0" "c.1145T>G" "r.(?)" "p.(Ile382Ser)" "" "0000535464" "00000140" "50" "1309" "0" "1309" "0" "c.1309C>G" "r.(?)" "p.(Leu437Val)" "" "0000535465" "00000140" "50" "1309" "0" "1309" "0" "c.1309C>G" "r.(?)" "p.(Leu437Val)" "" "0000535466" "00000140" "30" "1309" "0" "1309" "0" "c.1309C>G" "r.(?)" "p.(Leu437Val)" "" "0000535467" "00000140" "30" "1309" "0" "1309" "0" "c.1309C>G" "r.(?)" "p.(Leu437Val)" "" "0000535468" "00000140" "30" "1309" "0" "1309" "0" "c.1309C>G" "r.(?)" "p.(Leu437Val)" "" "0000535469" "00000140" "30" "1379" "0" "1379" "0" "c.1379G>C" "r.(?)" "p.(Arg460Thr)" "" "0000535470" "00000140" "10" "1774" "-81" "1774" "-81" "c.1774-81del" "r.(=)" "p.(=)" "" "0000535471" "00000140" "50" "1837" "0" "1837" "0" "c.1837G>A" "r.(?)" "p.(Val613Ile)" "" "0000535472" "00000140" "50" "1895" "0" "1895" "0" "c.1895T>G" "r.(?)" "p.(Ile632Ser)" "" "0000535473" "00000140" "50" "2241" "0" "2241" "0" "c.2241G>A" "r.(?)" "p.(Gln747=)" "" "0000535475" "00000140" "50" "2241" "0" "2241" "0" "c.2241G>A" "r.(?)" "p.(Gln747=)" "" "0000535476" "00000140" "50" "2241" "0" "2241" "0" "c.2241G>A" "r.(?)" "p.(Gln747=)" "" "0000535477" "00000140" "90" "2290" "0" "2290" "0" "c.2290C>T" "r.(?)" "p.(Arg764Ter)" "" "0000535478" "00000140" "50" "2299" "0" "2299" "0" "c.2299G>A" "r.(?)" "p.(Val767Ile)" "" "0000535479" "00000140" "30" "2299" "0" "2299" "0" "c.2299G>A" "r.(?)" "p.(Val767Ile)" "" "0000535480" "00000140" "10" "2355" "0" "2355" "0" "c.2355T>C" "r.(?)" "p.(Phe785=)" "" "0000535482" "00000140" "30" "2440" "-6" "2440" "-6" "c.2440-6T>C" "r.(=)" "p.(=)" "" "0000535483" "00000140" "90" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000535484" "00000140" "30" "2556" "4" "2556" "4" "c.2556+4T>G" "r.spl?" "p.?" "" "0000535485" "00000140" "50" "2660" "0" "2660" "0" "c.2660A>G" "r.(?)" "p.(His887Arg)" "" "0000535486" "00000140" "10" "2907" "9" "2907" "9" "c.2907+9T>C" "r.(=)" "p.(=)" "" "0000597572" "00000140" "90" "725" "0" "725" "0" "c.725A>G" "r.(?)" "p.(Asn242Ser)" "8" "0000597573" "00000140" "90" "313" "-3" "313" "-3" "c.313-3T>G" "r.313_316del" "p.Lys105Valfs*16" "2i" "0000602991" "00000140" "70" "1338" "0" "1350" "0" "c.1338_1350del" "r.(?)" "p.(Ala447Glufs*5)" "" "0000611724" "00000140" "30" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(Thr38=)" "" "0000611725" "00000140" "90" "579" "0" "580" "0" "c.579_580del" "r.(?)" "p.(Gly195IlefsTer13)" "" "0000620292" "00000140" "90" "329" "0" "329" "0" "c.329A>G" "r.328a>g" "p.Asp110Gly" "" "0000620296" "00000140" "90" "2322" "5" "2322" "5" "c.2322+5del" "r.2242_2322del" "p.Val748_Asn774del" "22i" "0000622097" "00000140" "70" "312" "2" "312" "2" "c.312+2T>G" "r.spl?" "p.?" "" "0000652535" "00000140" "10" "406" "1361" "406" "1361" "c.406+1361C>T" "r.(=)" "p.(=)" "" "0000652537" "00000140" "10" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Asp261Asn)" "" "0000652538" "00000140" "50" "1322" "0" "1322" "0" "c.1322G>T" "r.(?)" "p.(Arg441Leu)" "" "0000652539" "00000140" "90" "1538" "0" "1538" "0" "c.1538A>G" "r.(?)" "p.(Tyr513Cys)" "" "0000652541" "00000140" "90" "2498" "0" "2498" "0" "c.2498T>C" "r.(?)" "p.(Ile833Thr)" "" "0000670025" "00000140" "10" "2397" "0" "2397" "0" "c.2397T>C" "r.(=)" "p.(=)" "" "0000685768" "00000140" "70" "2397" "0" "2397" "0" "c.2397T>C" "r.(?)" "p.(Asp799=)" "" "0000685773" "00000140" "70" "2397" "0" "2397" "0" "c.2397T>C" "r.(?)" "p.(Asp799=)" "" "0000685780" "00000140" "70" "2397" "0" "2397" "0" "c.2397T>C" "r.(?)" "p.(Asp799=)" "" "0000685785" "00000140" "70" "2397" "0" "2397" "0" "c.2397T>C" "r.(?)" "p.(Asp799=)" "" "0000685790" "00000140" "70" "2397" "0" "2397" "0" "c.2397T>C" "r.(?)" "p.(Asp799=)" "" "0000685796" "00000140" "70" "2397" "0" "2397" "0" "c.2397T>C" "r.(?)" "p.(Asp799=)" "" "0000690328" "00000140" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" "" "0000690329" "00000140" "90" "1538" "0" "1538" "0" "c.1538A>G" "r.(?)" "p.(Tyr513Cys)" "" "0000690330" "00000140" "70" "1861" "-1" "1861" "-1" "c.1861-1G>A" "r.spl?" "p.?" "" "0000701847" "00000140" "50" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Gly92Arg)" "" "0000703894" "00000140" "70" "2848" "0" "2848" "0" "c.2848G>A" "r.(?)" "p.(Val950Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{variantid}}" "0000000031" "0000001264" "0000028945" "0000052249" "0000028983" "0000052291" "0000028983" "0000052292" "0000028984" "0000052293" "0000028984" "0000052294" "0000028985" "0000052295" "0000028985" "0000052296" "0000028986" "0000052297" "0000028986" "0000052298" "0000056014" "0000086051" "0000056015" "0000086052" "0000056015" "0000086053" "0000056016" "0000086054" "0000056017" "0000086055" "0000056018" "0000086056" "0000056018" "0000086057" "0000092384" "0000150686" "0000155877" "0000357618" "0000155877" "0000357619" "0000226789" "0000459819" "0000266755" "0000597572" "0000266755" "0000597573" "0000270251" "0000602991" "0000270928" "0000620292" "0000270928" "0000620296" "0000295846" "0000652535" "0000295848" "0000652537" "0000295849" "0000652538" "0000295850" "0000652539" "0000295852" "0000652541" "0000306337" "0000670025" "0000310784" "0000685768" "0000310785" "0000685773" "0000310786" "0000685780" "0000310787" "0000685785" "0000310788" "0000685790" "0000310790" "0000685796" "0000319183" "0000701847" "0000321104" "0000703894"