### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TTC21B) # 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}}" "TTC21B" "tetratricopeptide repeat domain 21B" "2" "q24.3" "unknown" "NG_030345.1" "UD_134711692720" "" "https://www.LOVD.nl/TTC21B" "" "1" "25660" "79809" "612014" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TTC21B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-29 17:33:27" "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}}" "00022027" "TTC21B" "tetratricopeptide repeat domain 21B" "001" "NM_024753.4" "" "NP_079029.3" "" "" "" "-133" "5344" "3951" "166810348" "166729872" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00002" "JBTS1" "Joubert syndrome, type 1 (JBTS1)" "AR" "213300" "" "" "" "00006" "2012-05-17 22:47:36" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00307" "HYDRO" "hydrocephaly (HYDRO)" "" "" "" "" "" "00006" "2014-01-19 12:32:13" "00006" "2015-12-07 07:11:25" "00374" "NPHP1" "nephronophthisis, type 1" "AR" "256100" "" "" "" "00006" "2014-05-02 09:58:21" "00006" "2022-01-23 12:29:39" "03446" "SRTD4;ATD4" "dysplasia, short-rib thoracic, type 4, with/without polydactyly (SRTD-4, asphyxiating thoracic dystrophy 4 (ATD-4))" "AR" "613819" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03447" "NPHP12;JBTS11" "nephronophthisis, type 12 (NPHP-12, Joubert syndrome 11 (JBTS-11))" "AD;AR" "613820" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05396" "FSGS" "glomerulosclerosis, segmental, focal (FSGS)" "" "" "" "" "" "00006" "2018-02-16 17:34:10" "" "" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05635" "SRTD" "dysplasia, short-rib thoracic, with/without polydactyly (SRTD) (Jeune syndrome)" "" "" "" "" "" "00006" "2019-07-28 13:54:33" "" "" "06892" "NPHP" "nephronophthisis" "" "" "" "" "" "00006" "2022-01-23 12:29:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "TTC21B" "00374" "TTC21B" "03446" "TTC21B" "03447" "TTC21B" "05635" ## Individuals ## Do not remove or alter this header ## ## Count = 42 "{{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}}" "00028949" "" "" "" "1" "" "01188" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "1-44 Pat19" "00050473" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00265203" "" "" "" "1" "" "00006" "{PMID:Kiselev 2019:31297131}" "" "F" "" "Sweden" "" "0" "" "" "" "Pat" "00292312" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292313" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292314" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292315" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308693" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00309439" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309440" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00331588" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "17DG0098" "00377775" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "heterozygous mutation identified in mother" "" "" "Turkey" "" "0" "" "" "" "" "00377776" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "homozygous mutation identified in mother" "" "" "" "" "0" "" "" "Swiss" "" "00377777" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "Homozygous mutation identified in mother" "" "" "" "" "0" "" "" "Portuguese" "" "00377793" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "no" "" "" "0" "" "" "Arab" "" "00377794" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00377795" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "no" "United States" "" "0" "" "" "" "" "00385224" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "India" "" "0" "" "" "" "" "00385241" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "" "" "0" "" "" "" "" "00385242" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "" "" "0" "" "" "" "" "00385699" "" "" "" "1" "" "03291" "" "" "F" "" "Morocco" "" "" "" "" "" "" "00386901" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI628_001291" "00386906" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI664_001341" "00388412" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "African American" "R03-101" "00388413" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R08-045A" "00388414" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R97-091" "00388464" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "African American" "R02-109" "00388465" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "white" "R94-040" "00388469" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "white" "R95-149" "00399822" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "1026" "00399823" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "1016" "00399824" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "882" "00399825" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "1002" "00399826" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "1011" "00407644" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "J-10" "00413749" "" "" "" "1" "" "00000" "{PMID:DeLuca-2016:26494905}" "" "M" "" "" "" "0" "" "" "" "Patient 1" "00414451" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP118" "00414465" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP132" "00426929" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 32, individual 38" "M" "" "" "" "0" "" "" "" "32_38" "00426945" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 49, individual 58" "F" "" "" "" "0" "" "" "" "49_58" "00433328" "" "" "" "1" "" "00006" "{PMID:Jacquemin 2023:36859317}" "" "F" "" "" "" "0" "" "" "Morocorpus callosuman" "Pat1.1" "00440432" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2193.1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 42 "{{individualid}}" "{{diseaseid}}" "00028949" "00002" "00050473" "00198" "00265203" "05121" "00292312" "00198" "00292313" "00198" "00292314" "00198" "00292315" "00198" "00308693" "00000" "00309439" "04214" "00309440" "04214" "00331588" "05517" "00377775" "04214" "00377776" "04214" "00377777" "04214" "00377793" "04214" "00377794" "04214" "00377795" "04214" "00385224" "04214" "00385241" "04214" "00385242" "04214" "00385699" "05396" "00386901" "04214" "00386906" "04214" "00388412" "00198" "00388413" "00198" "00388414" "00198" "00388464" "00198" "00388465" "00198" "00388469" "00198" "00399822" "06892" "00399823" "06892" "00399824" "06892" "00399825" "06892" "00399826" "06892" "00407644" "04214" "00413749" "04214" "00414451" "00198" "00414465" "00198" "00426929" "04214" "00426945" "04214" "00433328" "00307" "00440432" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00002, 00198, 00307, 00374, 03446, 03447, 04214, 05121, 05396, 05517, 05635, 06892 ## Count = 31 "{{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}}" "0000025024" "00002" "00028949" "01188" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037085" "00198" "00050473" "00006" "Isolated (sporadic)" "" "generalized myoclonic seizures, generalized tonic-clonic seizures, developmental regression, postnatal microcephaly, supernumerary nipples, brachycephaly, small feet, intellectual disability profound" "" "" "" "" "" "" "" "" "" "" "" "0000203031" "05121" "00265203" "00006" "Unknown" "53y" "see paper; ..., cardiomyopathy, limb-girdle type muscular dystrophy" "44y" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000234759" "04214" "00309439" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "SLS" "" "0000234760" "04214" "00309440" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "SLS" "" "0000249780" "05517" "00331588" "00000" "Familial, autosomal recessive" "" "Stillbirth, Hydrocephalus, Anencephaly, Renal agenesis" "" "" "" "" "" "" "" "" "Ciliopathies with major skeletal involvement" "skeletal dysplasia" "" "0000272921" "04214" "00377775" "00000" "Familial" "" "ophistotonus, mental retardation, situs inversus,vitium cordis,bronchiectasis" "" "" "" "" "" "" "" "" "" "Nephronophthisis" "" "0000272922" "04214" "00377776" "00000" "Familial" "" "situs inversus,vesicoureteral reflux" "" "" "" "" "" "" "" "" "" "Nephronophthisis" "" "0000272923" "04214" "00377777" "00000" "Familial" "" "situs inversus, short phalanges,retinal dystrophy" "" "" "" "" "" "" "" "" "" "Nephronophthisis" "" "0000272939" "04214" "00377793" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "0000272940" "04214" "00377794" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Meckel-Gruber syndrome" "" "0000272941" "04214" "00377795" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000279020" "04214" "00385224" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279037" "04214" "00385241" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279038" "04214" "00385242" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000280701" "04214" "00386901" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280706" "04214" "00386906" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000281964" "00198" "00388412" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281965" "00198" "00388413" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS II)" "" "0000281966" "00198" "00388414" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS IV)" "" "0000282016" "00198" "00388464" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000282017" "00198" "00388465" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000282021" "00198" "00388469" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS II)" "" "0000299791" "04214" "00407644" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 15.6, extra-renal manifestations: none" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000305714" "04214" "00413749" "00000" "Unknown" "19y" "pigmentary changes in the retina; nyctalopia at age 16y; VA with a low myopic correction was 20/20 OU" "16y" "" "nyctalopia" "" "" "" "" "" "autosomal-recessive retinitis pigmentosa with erythrocytic microcytosis" "non-syndromic retinitis pigmentosa (RP)" "" "0000306286" "00198" "00414451" "00000" "Familial, autosomal recessive" "6y" "" "" "" "" "" "" "" "" "" "Nephronophthisis 12" "" "" "0000306300" "00198" "00414465" "00000" "Familial, autosomal recessive" "2y" "" "" "" "" "" "" "" "" "" "Nephronophthisis 12" "" "" "0000318067" "04214" "00426929" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000318083" "04214" "00426945" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "Bardet-Biedl Syndrome" "" "0000323849" "00307" "00433328" "00006" "Di-genic" "" "hydrocephaly; severe encephalopathy; severe intellectual deficiency; MRI Sylvius aqueduct stenosis" "" "" "" "" "" "" "" "" "" "hydrocephaly" "" "0000330342" "00198" "00440432" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Nephronophthisis-12 (MIM #613820)" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 42 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000028983" "00028949" "1" "01188" "01188" "2015-01-06 09:10:27" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000050418" "00050473" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000266323" "00265203" "1" "00006" "00006" "2019-09-14 13:39:00" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000293480" "00292312" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293481" "00292313" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293482" "00292314" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293483" "00292315" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309838" "00308693" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000310584" "00309439" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310585" "00309440" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000332807" "00331588" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000378979" "00377775" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378980" "00377776" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378981" "00377777" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378997" "00377793" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378998" "00377794" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378999" "00377795" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000386453" "00385224" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386470" "00385241" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386471" "00385242" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386926" "00385699" "1" "03291" "03291" "2021-10-14 15:16:05" "" "" "SEQ-NG" "DNA" "" "" "0000388129" "00386901" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388134" "00386906" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000389653" "00388412" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389654" "00388413" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389655" "00388414" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389705" "00388464" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389706" "00388465" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389710" "00388469" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000401065" "00399822" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401066" "00399823" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401067" "00399824" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401068" "00399825" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401069" "00399826" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000408896" "00407644" "1" "00000" "03840" "2022-04-07 15:22:18" "" "" "SEQ-NG-I" "DNA" "" "targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD" "0000415029" "00413749" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG" "DNA;RNA" "dermal fibroblasts" "WES" "0000415731" "00414451" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415745" "00414465" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000428249" "00426929" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000428265" "00426945" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000434782" "00433328" "1" "00006" "00006" "2023-03-04 19:42:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441917" "00440432" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{geneid}}" "0000028983" "TMEM67" "0000266323" "MYOF" "0000309838" "TTC21B" "0000310584" "TTC21B" "0000310585" "TTC21B" "0000332807" "TTC21B" "0000378979" "TTC21B" "0000378980" "TTC21B" "0000378981" "TTC21B" "0000378997" "TTC21B" "0000378998" "TTC21B" "0000378999" "TTC21B" "0000386453" "BBS2" "0000386470" "BBS1" "0000386471" "TTC21B" "0000388129" "TTC21B" "0000388134" "TTC21B" "0000389653" "TTC21B" "0000389654" "TTC21B" "0000389655" "TTC21B" "0000389705" "DYNC2H1" "0000389706" "DYNC2H1" "0000389710" "DYNC2LI1" "0000408896" "TTC21B" "0000415029" "CRB1" "0000415731" "TTC21B" "0000415745" "TTC21B" "0000428249" "CRB1" "0000428265" "BBS1" ## 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 = 183 "{{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}}" "0000079398" "0" "90" "2" "165578421" "167108554" "del" "0" "00006" "COBLL1_000002" "g.165578421_167108554del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000247938" "0" "10" "2" "166770120" "166770120" "subst" "0.325038" "02325" "TTC21B_000016" "g.166770120A>G" "" "" "" "TTC21B(NM_024753.4):c.2175T>C (p.F725=), TTC21B(NM_024753.5):c.2175T>C (p.F725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165913610A>G" "" "benign" "" "0000250749" "0" "10" "2" "166740469" "166740469" "subst" "0.0316246" "02326" "TTC21B_000004" "g.166740469A>G" "" "" "" "TTC21B(NM_024753.4):c.3519T>C (p.T1173=), TTC21B(NM_024753.5):c.3519T>C (p.T1173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165883959A>G" "" "benign" "" "0000251253" "0" "10" "2" "166774088" "166774088" "subst" "0" "02326" "TTC21B_000019" "g.166774088A>G" "" "" "" "TTC21B(NM_024753.5):c.1675-97T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165917578A>G" "" "benign" "" "0000253199" "0" "10" "2" "166770120" "166770120" "subst" "0.325038" "01943" "TTC21B_000016" "g.166770120A>G" "" "" "" "TTC21B(NM_024753.4):c.2175T>C (p.F725=), TTC21B(NM_024753.5):c.2175T>C (p.F725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165913610A>G" "" "benign" "" "0000253968" "0" "30" "2" "166740469" "166740469" "subst" "0.0316246" "01943" "TTC21B_000004" "g.166740469A>G" "" "" "" "TTC21B(NM_024753.4):c.3519T>C (p.T1173=), TTC21B(NM_024753.5):c.3519T>C (p.T1173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165883959A>G" "" "likely benign" "" "0000255042" "0" "30" "2" "166740469" "166740469" "subst" "0.0026469" "01943" "TTC21B_000005" "g.166740469A>C" "" "" "" "TTC21B(NM_024753.4):c.3519T>G (p.T1173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165883959A>C" "" "likely benign" "" "0000312108" "0" "10" "2" "166773971" "166773971" "subst" "0.327884" "02325" "TTC21B_000018" "g.166773971G>A" "" "" "" "TTC21B(NM_024753.4):c.1695C>T (p.Y565=), TTC21B(NM_024753.5):c.1695C>T (p.Y565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165917461G>A" "" "benign" "" "0000312109" "0" "10" "2" "166788336" "166788336" "subst" "0.98858" "02325" "TTC21B_000025" "g.166788336T>C" "" "" "" "TTC21B(NM_024753.4):c.826A>G (p.T276A), TTC21B(NM_024753.5):c.826A>G (p.T276A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165931826T>C" "" "benign" "" "0000314885" "0" "10" "2" "166731160" "166731160" "subst" "0" "02326" "TTC21B_000001" "g.166731160C>T" "" "" "" "TTC21B(NM_024753.5):c.*105G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165874650C>T" "" "benign" "" "0000314886" "0" "90" "2" "166786210" "166786210" "subst" "0" "02326" "TTC21B_000023" "g.166786210G>A" "" "" "" "TTC21B(NM_024753.5):c.1135C>T (p.Q379*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165929700G>A" "" "pathogenic" "" "0000314888" "0" "10" "2" "166781188" "166781188" "subst" "0.00302643" "02326" "TTC21B_000021" "g.166781188G>A" "" "" "" "TTC21B(NM_024753.4):c.1387C>T (p.(Pro463Ser)), TTC21B(NM_024753.5):c.1387C>T (p.P463S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165924678G>A" "" "benign" "" "0000314889" "0" "10" "2" "166806073" "166806073" "subst" "0.00170397" "02326" "TTC21B_000031" "g.166806073C>G" "" "" "" "TTC21B(NM_024753.5):c.151+32G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165949563C>G" "" "benign" "" "0000314892" "0" "10" "2" "166770071" "166770071" "subst" "0.00945615" "02326" "TTC21B_000015" "g.166770071T>C" "" "" "" "TTC21B(NM_024753.4):c.2211+13A>G, TTC21B(NM_024753.5):c.2211+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165913561T>C" "" "benign" "" "0000314893" "0" "10" "2" "166769021" "166769021" "subst" "0.00730443" "02326" "TTC21B_000013" "g.166769021T>C" "" "" "" "TTC21B(NM_024753.4):c.2322+3A>G (p.?), TTC21B(NM_024753.5):c.2322+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165912511T>C" "" "benign" "" "0000314894" "0" "10" "2" "166764284" "166764284" "subst" "0.000806353" "02326" "TTC21B_000011" "g.166764284C>T" "" "" "" "TTC21B(NM_024753.4):c.2472G>A (p.L824=), TTC21B(NM_024753.5):c.2472G>A (p.L824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165907774C>T" "" "benign" "" "0000314895" "0" "90" "2" "166764256" "166764256" "subst" "5.29161E-5" "02326" "TTC21B_000010" "g.166764256G>A" "" "" "" "TTC21B(NM_024753.5):c.2500C>T (p.Q834*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165907746G>A" "" "pathogenic" "" "0000314897" "0" "10" "2" "166802286" "166802286" "subst" "0" "02326" "TTC21B_000030" "g.166802286T>G" "" "" "" "TTC21B(NM_024753.5):c.263-86A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165945776T>G" "" "benign" "" "0000314898" "0" "30" "2" "166756481" "166756481" "subst" "0" "02326" "TTC21B_000007" "g.166756481C>T" "" "" "" "TTC21B(NM_024753.5):c.2758-91G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165899971C>T" "" "likely benign" "" "0000314899" "0" "10" "2" "166732873" "166732873" "subst" "0" "02326" "TTC21B_000003" "g.166732873G>A" "" "" "" "TTC21B(NM_024753.5):c.3806-131C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165876363G>A" "" "benign" "" "0000314900" "0" "90" "2" "166732674" "166732674" "subst" "4.08493E-6" "02326" "TTC21B_000002" "g.166732674C>T" "" "" "" "TTC21B(NM_024753.5):c.3873+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165876164C>T" "" "pathogenic" "" "0000314901" "0" "10" "2" "166799903" "166799903" "subst" "0.0161635" "02326" "TTC21B_000028" "g.166799903T>C" "" "" "" "TTC21B(NM_024753.5):c.430-52A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165943393T>C" "" "benign" "" "0000314902" "0" "10" "2" "166797582" "166797582" "subst" "0.00286153" "02326" "TTC21B_000027" "g.166797582T>A" "" "" "" "TTC21B(NM_024753.4):c.665A>T (p.(Gln222Leu)), TTC21B(NM_024753.5):c.665A>T (p.Q222L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165941072T>A" "" "benign" "" "0000314903" "0" "10" "2" "166789554" "166789554" "subst" "0.00416745" "02326" "TTC21B_000026" "g.166789554C>T" "" "" "" "TTC21B(NM_024753.4):c.724G>A (p.(Asp242Asn)), TTC21B(NM_024753.5):c.724G>A (p.D242N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165933044C>T" "" "benign" "" "0000314904" "0" "10" "2" "166788324" "166788324" "subst" "0.00288146" "02326" "TTC21B_000024" "g.166788324T>C" "" "" "" "TTC21B(NM_024753.4):c.838A>G (p.(Met280Val)), TTC21B(NM_024753.5):c.838A>G (p.M280V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165931814T>C" "" "benign" "" "0000318013" "0" "10" "2" "166810232" "166810232" "subst" "0.00235527" "01943" "TTC21B_000034" "g.166810232G>A" "" "" "" "TTC21B(NM_024753.4):c.-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165953722G>A" "" "benign" "" "0000318014" "0" "30" "2" "166781158" "166781158" "subst" "0.02909" "01943" "TTC21B_000020" "g.166781158G>A" "" "" "" "TTC21B(NM_024753.4):c.1417C>T (p.L473F, p.(Leu473Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165924648G>A" "" "likely benign" "" "0000318015" "0" "10" "2" "166773971" "166773971" "subst" "0.327884" "01943" "TTC21B_000018" "g.166773971G>A" "" "" "" "TTC21B(NM_024753.4):c.1695C>T (p.Y565=), TTC21B(NM_024753.5):c.1695C>T (p.Y565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165917461G>A" "" "benign" "" "0000318016" "0" "50" "2" "166773820" "166773820" "subst" "0.00423312" "01943" "TTC21B_000017" "g.166773820G>A" "" "" "" "TTC21B(NM_024753.4):c.1846C>T (p.R616C, p.(Arg616Cys)), TTC21B(NM_024753.5):c.1846C>T (p.R616C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165917310G>A" "" "VUS" "" "0000318017" "0" "10" "2" "166770071" "166770071" "subst" "0.00945615" "01943" "TTC21B_000015" "g.166770071T>C" "" "" "" "TTC21B(NM_024753.4):c.2211+13A>G, TTC21B(NM_024753.5):c.2211+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165913561T>C" "" "benign" "" "0000318018" "0" "30" "2" "166769088" "166769088" "subst" "0.0017551" "01943" "TTC21B_000014" "g.166769088G>A" "" "" "" "TTC21B(NM_024753.4):c.2258C>T (p.P753L, p.(Pro753Leu)), TTC21B(NM_024753.5):c.2258C>T (p.P753L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165912578G>A" "" "likely benign" "" "0000318019" "0" "30" "2" "166767913" "166767913" "subst" "0.0294591" "01943" "TTC21B_000012" "g.166767913C>G" "" "" "" "TTC21B(NM_024753.4):c.2385G>C (p.L795=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165911403C>G" "" "likely benign" "" "0000318020" "0" "30" "2" "166758247" "166758247" "subst" "0.00237695" "01943" "TTC21B_000008" "g.166758247G>A" "" "" "" "TTC21B(NM_024753.4):c.2742C>T (p.C914=), TTC21B(NM_024753.5):c.2742C>T (p.C914=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165901737G>A" "" "likely benign" "" "0000318021" "0" "90" "2" "166756372" "166756372" "subst" "0" "01943" "TTC21B_000006" "g.166756372G>A" "" "" "" "TTC21B(NM_024753.4):c.2776C>T (p.R926*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165899862G>A" "" "pathogenic" "" "0000318022" "0" "50" "2" "166802155" "166802155" "subst" "2.03221E-5" "01943" "TTC21B_000029" "g.166802155C>T" "" "" "" "TTC21B(NM_024753.4):c.308G>A (p.R103H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165945645C>T" "" "VUS" "" "0000318023" "0" "10" "2" "166788336" "166788336" "subst" "0.98858" "01943" "TTC21B_000025" "g.166788336T>C" "" "" "" "TTC21B(NM_024753.4):c.826A>G (p.T276A), TTC21B(NM_024753.5):c.826A>G (p.T276A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165931826T>C" "" "benign" "" "0000348276" "0" "70" "2" "166797621" "166797621" "subst" "0.000126083" "02327" "TTC21B_000035" "g.166797621G>A" "" "" "" "TTC21B(NM_024753.5):c.626C>T (p.(Pro209Leu), p.P209L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165941111G>A" "" "likely pathogenic" "" "0000509873" "0" "50" "2" "166747056" "166747056" "subst" "0" "01804" "TTC21B_000036" "g.166747056T>A" "" "" "" "TTC21B(NM_024753.4):c.3196A>T (p.(Ile1066Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165890546T>A" "" "VUS" "" "0000509874" "0" "50" "2" "166747445" "166747445" "subst" "0.00525865" "01943" "TTC21B_000037" "g.166747445G>C" "" "" "" "TTC21B(NM_024753.4):c.3004C>G (p.L1002V, p.(Leu1002Val)), TTC21B(NM_024753.5):c.3004C>G (p.L1002V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165890935G>C" "" "VUS" "" "0000509875" "0" "30" "2" "166747445" "166747445" "subst" "0.00525865" "02326" "TTC21B_000037" "g.166747445G>C" "" "" "" "TTC21B(NM_024753.4):c.3004C>G (p.L1002V, p.(Leu1002Val)), TTC21B(NM_024753.5):c.3004C>G (p.L1002V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165890935G>C" "" "likely benign" "" "0000509876" "0" "50" "2" "166756294" "166756294" "subst" "1.62627E-5" "01804" "TTC21B_000038" "g.166756294C>T" "" "" "" "TTC21B(NM_024753.4):c.2854G>A (p.(Glu952Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165899784C>T" "" "VUS" "" "0000509878" "0" "50" "2" "166758402" "166758402" "subst" "0.000776019" "01804" "TTC21B_000040" "g.166758402G>A" "" "" "" "TTC21B(NM_024753.4):c.2587C>T (p.(Arg863Trp)), TTC21B(NM_024753.5):c.2587C>T (p.R863W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165901892G>A" "" "VUS" "" "0000509879" "0" "50" "2" "166758402" "166758402" "subst" "0.000776019" "02325" "TTC21B_000040" "g.166758402G>A" "" "" "" "TTC21B(NM_024753.4):c.2587C>T (p.(Arg863Trp)), TTC21B(NM_024753.5):c.2587C>T (p.R863W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165901892G>A" "" "VUS" "" "0000509880" "0" "10" "2" "166758423" "166758423" "dup" "0" "02326" "TTC21B_000041" "g.166758423dup" "" "" "" "TTC21B(NM_024753.5):c.2569-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165901913dup" "" "benign" "" "0000509881" "0" "10" "2" "166758459" "166758459" "del" "0" "02326" "TTC21B_000042" "g.166758459del" "" "" "" "TTC21B(NM_024753.5):c.2569-28delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165901949del" "" "benign" "" "0000509882" "0" "30" "2" "166769021" "166769021" "subst" "0.00730443" "01804" "TTC21B_000013" "g.166769021T>C" "" "" "" "TTC21B(NM_024753.4):c.2322+3A>G (p.?), TTC21B(NM_024753.5):c.2322+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165912511T>C" "" "likely benign" "" "0000509883" "0" "30" "2" "166769088" "166769088" "subst" "0.0017551" "01804" "TTC21B_000014" "g.166769088G>A" "" "" "" "TTC21B(NM_024753.4):c.2258C>T (p.P753L, p.(Pro753Leu)), TTC21B(NM_024753.5):c.2258C>T (p.P753L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165912578G>A" "" "likely benign" "" "0000509884" "0" "30" "2" "166771885" "166771885" "subst" "1.21923E-5" "01804" "TTC21B_000043" "g.166771885C>T" "" "" "" "TTC21B(NM_024753.4):c.1964G>A (p.(Arg655Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165915375C>T" "" "likely benign" "" "0000509885" "0" "10" "2" "166773796" "166773796" "subst" "0.00152739" "01943" "TTC21B_000044" "g.166773796T>C" "" "" "" "TTC21B(NM_024753.4):c.1870A>G (p.I624V), TTC21B(NM_024753.5):c.1870A>G (p.I624V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165917286T>C" "" "benign" "" "0000509886" "0" "30" "2" "166773820" "166773820" "subst" "0.00423312" "01804" "TTC21B_000017" "g.166773820G>A" "" "" "" "TTC21B(NM_024753.4):c.1846C>T (p.R616C, p.(Arg616Cys)), TTC21B(NM_024753.5):c.1846C>T (p.R616C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165917310G>A" "" "likely benign" "" "0000509887" "0" "30" "2" "166775882" "166775882" "subst" "6.9104E-5" "01943" "TTC21B_000045" "g.166775882A>G" "" "" "" "TTC21B(NM_024753.4):c.1578T>C (p.A526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165919372A>G" "" "likely benign" "" "0000509888" "0" "30" "2" "166775948" "166775948" "subst" "5.70539E-5" "01943" "TTC21B_000046" "g.166775948T>G" "" "" "" "TTC21B(NM_024753.4):c.1517-5A>C, TTC21B(NM_024753.5):c.1517-5A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165919438T>G" "" "likely benign" "" "0000509889" "0" "30" "2" "166781158" "166781158" "subst" "0.02909" "01804" "TTC21B_000020" "g.166781158G>A" "" "" "" "TTC21B(NM_024753.4):c.1417C>T (p.L473F, p.(Leu473Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165924648G>A" "" "likely benign" "" "0000509890" "0" "10" "2" "166781246" "166781246" "dup" "0" "02326" "TTC21B_000047" "g.166781246dup" "" "" "" "TTC21B(NM_024753.5):c.1387-55dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165924736dup" "" "benign" "" "0000509891" "0" "50" "2" "166789567" "166789567" "subst" "1.62917E-5" "01943" "TTC21B_000048" "g.166789567C>A" "" "" "" "TTC21B(NM_024753.4):c.711G>T (p.R237S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165933057C>A" "" "VUS" "" "0000509892" "0" "10" "2" "166797646" "166797646" "subst" "0.663849" "01943" "TTC21B_000049" "g.166797646C>T" "" "" "" "TTC21B(NM_024753.4):c.601G>A (p.V201M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165941136C>T" "" "benign" "" "0000509893" "0" "10" "2" "166810180" "166810195" "dup" "0" "02326" "TTC21B_000050" "g.166810180_166810195dup" "" "" "" "TTC21B(NM_024753.5):c.21+18_21+33dupTGAGCGGGTGAGCGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165953670_165953685dup" "" "benign" "" "0000509894" "0" "10" "2" "166810188" "166810195" "dup" "0" "02326" "TTC21B_000051" "g.166810188_166810195dup" "" "" "" "TTC21B(NM_024753.5):c.21+26_21+33dupTGAGCGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165953678_165953685dup" "" "benign" "" "0000596986" "0" "50" "2" "166746996" "166746996" "subst" "0" "00006" "TTC21B_000052" "g.166746996C>A" "" "{PMID:Kiselev 2019:31297131}" "" "" "" "Germline" "" "" "0" "" "" "g.165890486C>A" "" "VUS" "" "0000650169" "1" "50" "2" "166730418" "166730418" "subst" "0" "03575" "TTC21B_000053" "g.166730418T>G" "5/2753 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs138656848}" "Germline" "" "rs138656848" "0" "" "" "g.165873908T>G" "" "VUS" "" "0000650170" "1" "50" "2" "166737197" "166737197" "subst" "0.000451767" "03575" "TTC21B_000054" "g.166737197G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs140384742}" "Germline" "" "rs140384742" "0" "" "" "g.165880687G>A" "" "VUS" "" "0000650171" "1" "90" "2" "166764256" "166764256" "subst" "5.29161E-5" "03575" "TTC21B_000010" "g.166764256G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs79746977}" "Germline" "" "rs79746977" "0" "" "" "g.165907746G>A" "" "pathogenic" "" "0000650172" "1" "90" "2" "166797621" "166797621" "subst" "0.000126083" "03575" "TTC21B_000035" "g.166797621G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs140511594}" "Germline" "" "rs140511594" "0" "" "" "g.165941111G>A" "" "pathogenic" "" "0000676075" "0" "30" "2" "166740361" "166740361" "subst" "0" "01943" "TTC21B_000055" "g.166740361T>C" "" "" "" "TTC21B(NM_024753.4):c.3627A>G (p.Q1209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676076" "0" "30" "2" "166773820" "166773820" "subst" "0.00423312" "02326" "TTC21B_000017" "g.166773820G>A" "" "" "" "TTC21B(NM_024753.4):c.1846C>T (p.R616C, p.(Arg616Cys)), TTC21B(NM_024753.5):c.1846C>T (p.R616C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676077" "0" "30" "2" "166789554" "166789554" "subst" "0.00416745" "01804" "TTC21B_000026" "g.166789554C>T" "" "" "" "TTC21B(NM_024753.4):c.724G>A (p.(Asp242Asn)), TTC21B(NM_024753.5):c.724G>A (p.D242N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676078" "0" "30" "2" "166805917" "166805917" "subst" "8.12731E-6" "01943" "TTC21B_000056" "g.166805917C>A" "" "" "" "TTC21B(NM_024753.4):c.249G>T (p.M83I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684740" "0" "30" "2" "166769021" "166769021" "subst" "0.00730443" "00004" "TTC21B_000013" "g.166769021T>C" "frequency 0.018" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.165912511T>C" "" "likely benign" "" "0000685495" "0" "90" "2" "166786258" "166786258" "subst" "1.22701E-5" "00004" "TTC21B_000057" "g.166786258C>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685496" "0" "70" "2" "166797621" "166797621" "subst" "0.000126083" "00004" "TTC21B_000035" "g.166797621G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000688373" "0" "30" "2" "166773850" "166773850" "subst" "3.65646E-5" "01804" "TTC21B_000058" "g.166773850C>T" "" "" "" "TTC21B(NM_024753.4):c.1816G>A (p.(Asp606Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717942" "0" "30" "2" "166747445" "166747445" "subst" "0.00525865" "01804" "TTC21B_000037" "g.166747445G>C" "" "" "" "TTC21B(NM_024753.4):c.3004C>G (p.L1002V, p.(Leu1002Val)), TTC21B(NM_024753.5):c.3004C>G (p.L1002V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717943" "0" "90" "2" "166775803" "166775806" "del" "0" "01943" "TTC21B_000059" "g.166775803_166775806del" "" "" "" "TTC21B(NM_024753.4):c.1656_1659del (p.(Cys552*)), TTC21B(NM_024753.4):c.1656_1659delTCTG (p.C552*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717944" "0" "90" "2" "166797621" "166797621" "subst" "0.000126083" "02326" "TTC21B_000035" "g.166797621G>A" "" "" "" "TTC21B(NM_024753.5):c.626C>T (p.(Pro209Leu), p.P209L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000730089" "3" "90" "2" "166786161" "166786171" "del" "0" "00000" "TTC21B_000060" "g.166786161_166786171del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_024753.4:c.1176_1185+1del:p.(Lys393Asnfs*2)" "" "Germline" "" "" "0" "" "" "g.165929651_165929661del" "" "likely pathogenic (recessive)" "" "0000785445" "0" "50" "2" "166755243" "166755243" "subst" "2.84678E-5" "00000" "TTC21B_000061" "g.166755243T>C" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Germline" "" "" "0" "" "" "g.165898733T>C" "" "VUS" "" "0000791993" "0" "90" "2" "166797621" "166797621" "subst" "0.000126083" "00000" "TTC21B_000035" "g.166797621G>A" "" "{PMID:Otto 2011:21068128}" "" "c.626C/T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791994" "0" "90" "2" "166775813" "166775813" "del" "0" "00000" "TTC21B_000065" "g.166775813delGACA" "" "{PMID:Otto 2011:21068128}" "" "c.1654e7delTGTC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791995" "0" "90" "2" "166799833" "166799833" "subst" "0" "00000" "TTC21B_000066" "g.166799833A>G" "" "{PMID:Otto 2011:21068128}" "" "c.448T/C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791996" "0" "90" "2" "166744987" "166744987" "subst" "7.0121E-5" "00000" "TTC21B_000062" "g.166744987G>C" "" "{PMID:Otto 2011:21068128}" "" "c.3264e3C/G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791997" "0" "90" "2" "166756392" "166756392" "subst" "2.4394E-5" "00000" "TTC21B_000063" "g.166756392T>C" "" "{PMID:Otto 2011:21068128}" "" "c.2758e2A/G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791998" "0" "90" "2" "166797621" "166797621" "subst" "0.000126083" "00000" "TTC21B_000035" "g.166797621G>A" "" "{PMID:Otto 2011:21068128}" "" "c.626C/T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792017" "0" "90" "2" "166769088" "166769088" "subst" "0.0017551" "00000" "TTC21B_000014" "g.166769088G>A" "" "{PMID:Otto 2011:21068128}" "" "c.2258C/T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792018" "0" "90" "2" "166758401" "166758401" "subst" "4.46933E-5" "00000" "TTC21B_000064" "g.166758401C>T" "" "{PMID:Otto 2011:21068128}" "" "c.2588G/A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792019" "0" "90" "2" "166747445" "166747445" "subst" "0.00525865" "00000" "TTC21B_000037" "g.166747445G>C" "" "{PMID:Otto 2011:21068128}" "" "c.3004C/G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000799763" "0" "30" "2" "166740464" "166740464" "subst" "8.13154E-6" "01943" "TTC21B_000069" "g.166740464C>T" "" "" "" "TTC21B(NM_024753.4):c.3524G>A (p.R1175Q), TTC21B(NM_024753.5):c.3524G>A (p.R1175Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799764" "0" "50" "2" "166755251" "166755251" "subst" "0.000138289" "01943" "TTC21B_000070" "g.166755251T>A" "" "" "" "TTC21B(NM_024753.4):c.2895A>T (p.K965N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799765" "0" "30" "2" "166758389" "166758389" "subst" "0.000349352" "02326" "TTC21B_000071" "g.166758389C>T" "" "" "" "TTC21B(NM_024753.5):c.2600G>A (p.R867H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799766" "0" "30" "2" "166758430" "166758430" "dup" "0" "01804" "TTC21B_000072" "g.166758430dup" "" "" "" "TTC21B(NM_024753.4):c.2569-5dup (p.?), TTC21B(NM_024753.5):c.2569-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799767" "0" "30" "2" "166788324" "166788324" "subst" "0.00288146" "01804" "TTC21B_000024" "g.166788324T>C" "" "" "" "TTC21B(NM_024753.4):c.838A>G (p.(Met280Val)), TTC21B(NM_024753.5):c.838A>G (p.M280V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799768" "0" "30" "2" "166797582" "166797582" "subst" "0.00286153" "01804" "TTC21B_000027" "g.166797582T>A" "" "" "" "TTC21B(NM_024753.4):c.665A>T (p.(Gln222Leu)), TTC21B(NM_024753.5):c.665A>T (p.Q222L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799769" "0" "90" "2" "166797621" "166797621" "subst" "0.000126083" "02329" "TTC21B_000035" "g.166797621G>A" "" "" "" "TTC21B(NM_024753.5):c.626C>T (p.(Pro209Leu), p.P209L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799770" "0" "30" "2" "166806139" "166806139" "subst" "0" "01804" "TTC21B_000073" "g.166806139G>C" "" "" "" "TTC21B(NM_024753.4):c.117C>G (p.(Phe39Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000813975" "0" "50" "2" "166773820" "166773820" "subst" "0.00423312" "00000" "TTC21B_000017" "g.166773820G>A" "" "{PMID:Redin-2012:22773737}" "" "TTC21B/NPHP12:p.[R616C];[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814006" "0" "50" "2" "166771711" "166771711" "subst" "4.06891E-6" "00000" "TTC21B_000074" "g.166771711C>A" "" "{PMID:Redin-2012:22773737}" "" "TTC21B/NPHP12:p.[R713I];" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814007" "0" "50" "2" "166758402" "166758402" "subst" "0.000776019" "00000" "TTC21B_000040" "g.166758402G>A" "" "{PMID:Redin-2012:22773737}" "" "c.[2587C>T];[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814750" "3" "90" "2" "166797621" "166797621" "subst" "0.000126083" "03291" "TTC21B_000035" "g.166797621G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000816287" "0" "50" "2" "166786183" "166786183" "subst" "0" "00000" "TTC21B_000076" "g.166786183G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "TTC21B c.1162C>T, p.Gln388Ter" "unsolved" "Unknown" "?" "" "0" "" "" "g.165929673G>A" "" "VUS" "" "0000816292" "0" "50" "2" "166756279" "166756279" "subst" "0" "00000" "TTC21B_000075" "g.166756279C>A" "" "{PMID:Zampaglione 2020:32037395}" "" "TTC21B c.2868+1G>T" "unsolved" "Unknown" "?" "" "0" "" "" "g.165899769C>A" "" "VUS" "" "0000818834" "0" "90" "2" "166781178" "166781178" "subst" "0" "00000" "TTC21B_000081" "g.166781178G>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_024753.4:c.1397C>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818835" "0" "90" "2" "166781080" "166781080" "subst" "0" "00000" "TTC21B_000080" "g.166781080C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_024753.4:c.1495G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818836" "0" "90" "2" "166797544" "166797544" "subst" "0" "00000" "TTC21B_000083" "g.166797544C>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_024753.4:c.703G>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818837" "0" "90" "2" "166806125" "166806125" "subst" "0" "00000" "TTC21B_000084" "g.166806125G>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_024753.4:c.131C>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818838" "0" "90" "2" "166764256" "166764256" "subst" "5.29161E-5" "00000" "TTC21B_000010" "g.166764256G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_024753.4:c.2500C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818839" "0" "90" "2" "166785711" "166785711" "del" "4.07564E-5" "00000" "TTC21B_000082" "g.166785711del" "" "{PMID:Zhang-2019:29068549}" "" "NM_024753.4:c.1320delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818840" "0" "90" "2" "166740383" "166740383" "subst" "0" "00000" "TTC21B_000077" "g.166740383A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_024753.4:c.3605T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818913" "0" "70" "2" "166771835" "166771835" "subst" "0.000117828" "00000" "TTC21B_000079" "g.166771835G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_024753.4:c.2014C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818915" "0" "70" "2" "166758296" "166758296" "subst" "3.65669E-5" "00000" "TTC21B_000078" "g.166758296C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_024753.4:c.2693G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818928" "0" "70" "2" "166810196" "166810197" "ins" "0" "00000" "TTC21B_000085" "g.166810196_166810197insCACCCGC" "" "{PMID:Zhang-2019:29068549}" "" "NM_024753.4:c.19_20insGCGGGTG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000834108" "11" "70" "2" "166732685" "166732686" "del" "0" "00006" "TTC21B_000086" "g.166732685_166732686del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.3864(exon28)_c.3865(exon28)delAT" "" "Germline" "" "rs1291797554" "0" "" "" "g.165876175_165876176del" "" "likely pathogenic" "ACMG" "0000834109" "1" "50" "2" "166775908" "166775908" "subst" "0" "00006" "TTC21B_000068" "g.166775908A>G" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.1552(exon13)T>C" "" "Germline" "" "rs1378821369" "0" "" "" "g.165919398A>G" "" "VUS" "ACMG" "0000834110" "0" "90" "2" "166775803" "166775806" "del" "0" "00006" "TTC21B_000059" "g.166775803_166775806del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.1656(exon13)_c.1659(exon13)delTCTG" "" "De novo" "" "" "0" "" "" "g.165919293_165919296del" "" "pathogenic" "ACMG" "0000834111" "0" "90" "2" "166775803" "166775806" "del" "0" "00006" "TTC21B_000059" "g.166775803_166775806del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.1656(exon13)_c.1659(exon13)delTCTG" "" "De novo" "" "" "0" "" "" "g.165919293_165919296del" "" "pathogenic" "ACMG" "0000834112" "11" "90" "2" "166797696" "166797696" "subst" "4.07203E-6" "00006" "TTC21B_000089" "g.166797696T>A" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.553-2(IVS5)A>T" "" "Germline" "" "rs773580610" "0" "" "" "g.165941186T>A" "" "pathogenic" "ACMG" "0000834165" "21" "50" "2" "166788282" "166788282" "subst" "0.000166695" "00006" "TTC21B_000087" "g.166788282C>A" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.880(exon8)G>T" "" "Germline" "" "rs141240501" "0" "" "" "g.165931772C>A" "" "VUS" "ACMG" "0000834166" "1" "50" "2" "166789526" "166789526" "subst" "0" "00006" "TTC21B_000088" "g.166789526A>C" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.752(exon7)T>G" "" "Germline" "" "" "0" "" "" "g.165933016A>C" "" "VUS" "ACMG" "0000834167" "0" "90" "2" "166775908" "166775908" "subst" "0" "00006" "TTC21B_000068" "g.166775908A>G" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.1552(exon13)T>C" "" "De novo" "" "rs1378821369" "0" "" "" "g.165919398A>G" "" "pathogenic" "ACMG" "0000834168" "0" "90" "2" "166775908" "166775908" "subst" "0" "00006" "TTC21B_000068" "g.166775908A>G" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.1552(exon13)T>C" "" "De novo" "" "rs1378821369" "0" "" "" "g.165919398A>G" "" "pathogenic" "ACMG" "0000834169" "21" "90" "2" "166775908" "166775908" "subst" "0" "00006" "TTC21B_000068" "g.166775908A>G" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.1552(exon13)T>C" "" "Germline" "" "rs1378821369" "0" "" "" "g.165919398A>G" "" "pathogenic" "ACMG" "0000845900" "0" "90" "2" "166802084" "166802084" "subst" "8.12817E-6" "00000" "TTC21B_000091" "g.166802084C>T" "" "{PMID:Kang 2016:27491411}" "" "TTC21B/NPHP12 c.379G>A, p.Ala127Thr" "heterozygous" "Unknown" "?" "" "0" "" "" "g.165945574C>T" "" "pathogenic" "" "0000845901" "0" "90" "2" "166758417" "166758417" "subst" "8.13253E-6" "00000" "TTC21B_000090" "g.166758417G>A" "" "{PMID:Kang 2016:27491411}" "" "TTC21B/NPHP12 c.2572C>T, p.Arg858*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.165901907G>A" "" "pathogenic" "" "0000849017" "0" "50" "2" "166731284" "166731284" "subst" "0.000553183" "01804" "TTC21B_000092" "g.166731284C>T" "" "" "" "TTC21B(NM_024753.4):c.3932G>A (p.(Arg1311His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849018" "0" "30" "2" "166756319" "166756319" "subst" "0.000117905" "01943" "TTC21B_000093" "g.166756319T>C" "" "" "" "TTC21B(NM_024753.4):c.2829A>G (p.L943=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849019" "0" "30" "2" "166764284" "166764284" "subst" "0.000806353" "01943" "TTC21B_000011" "g.166764284C>T" "" "" "" "TTC21B(NM_024753.4):c.2472G>A (p.L824=), TTC21B(NM_024753.5):c.2472G>A (p.L824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849020" "0" "50" "2" "166770134" "166770134" "subst" "0.000342086" "01943" "TTC21B_000094" "g.166770134T>G" "" "" "" "TTC21B(NM_024753.4):c.2161A>C (p.N721H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849021" "0" "50" "2" "166771886" "166771886" "subst" "4.06458E-5" "01804" "TTC21B_000095" "g.166771886G>A" "" "" "" "TTC21B(NM_024753.4):c.1963C>T (p.(Arg655Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849022" "0" "30" "2" "166773799" "166773799" "subst" "0.000353409" "01943" "TTC21B_000097" "g.166773799A>G" "" "" "" "TTC21B(NM_024753.4):c.1867T>C (p.L623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849023" "0" "30" "2" "166773941" "166773941" "subst" "0.000125971" "02326" "TTC21B_000098" "g.166773941T>C" "" "" "" "TTC21B(NM_024753.5):c.1725A>G (p.K575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849024" "0" "50" "2" "166773969" "166773969" "subst" "0.000581462" "02325" "TTC21B_000099" "g.166773969T>C" "" "" "" "TTC21B(NM_024753.5):c.1697A>G (p.(His566Arg), p.H566R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849025" "0" "30" "2" "166799813" "166799813" "subst" "0.000235839" "01943" "TTC21B_000101" "g.166799813T>C" "" "" "" "TTC21B(NM_024753.4):c.468A>G (p.G156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857815" "0" "10" "2" "166758247" "166758247" "subst" "0.00237695" "02326" "TTC21B_000008" "g.166758247G>A" "" "" "" "TTC21B(NM_024753.4):c.2742C>T (p.C914=), TTC21B(NM_024753.5):c.2742C>T (p.C914=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857816" "0" "50" "2" "166773783" "166773783" "subst" "0.000109693" "01943" "TTC21B_000096" "g.166773783C>T" "" "" "" "TTC21B(NM_024753.4):c.1883G>A (p.R628H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857817" "0" "30" "2" "166773796" "166773796" "subst" "0.00152739" "02326" "TTC21B_000044" "g.166773796T>C" "" "" "" "TTC21B(NM_024753.4):c.1870A>G (p.I624V), TTC21B(NM_024753.5):c.1870A>G (p.I624V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857818" "0" "90" "2" "166775803" "166775806" "del" "0" "01804" "TTC21B_000059" "g.166775803_166775806del" "" "" "" "TTC21B(NM_024753.4):c.1656_1659del (p.(Cys552*)), TTC21B(NM_024753.4):c.1656_1659delTCTG (p.C552*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857819" "0" "90" "2" "166789500" "166789500" "subst" "0" "02329" "TTC21B_000100" "g.166789500C>A" "" "" "" "TTC21B(NM_024753.5):c.778G>T (p.E260*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857820" "0" "30" "2" "166805888" "166805888" "subst" "0.00143489" "01804" "TTC21B_000102" "g.166805888C>T" "" "" "" "TTC21B(NM_024753.4):c.262+16G>A (p.(=)), TTC21B(NM_024753.5):c.262+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000872761" "0" "50" "2" "166781148" "166781148" "subst" "2.84407E-5" "00000" "TTC21B_000103" "g.166781148C>T" "" "{PMID:DeLuca-2016:26494905}" "" "Arg476His" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000872763" "2" "70" "2" "166806128" "166806130" "del" "0" "00000" "TTC21B_000104" "g.166806128_166806130del" "" "{PMID:DeLuca-2016:26494905}" "" "c.126_128delAGA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000873609" "0" "70" "2" "166775908" "166775908" "subst" "0" "00000" "TTC21B_000068" "g.166775908A>G" "218" "{PMID:Sun 2018:30076350}" "" "TTC21B(NM_024753.4):c.1552T>C(p.C518R)/c.895T>C(p.C299R)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.165919398A>G" "" "likely pathogenic" "" "0000873610" "0" "70" "2" "166786874" "166786874" "subst" "3.33597E-5" "00000" "TTC21B_000106" "g.166786874A>G" "218" "{PMID:Sun 2018:30076350}" "" "TTC21B(NM_024753.4):c.1552T>C(p.C518R)/c.895T>C(p.C299R)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.165930364A>G" "" "likely pathogenic" "" "0000873627" "0" "70" "2" "166773769" "166773769" "subst" "0" "00000" "TTC21B_000105" "g.166773769G>A" "232" "{PMID:Sun 2018:30076350}" "" "TTC21B(NM_024753.4):c.1897C>T(p.Q633* )/c.1552T>C(p.C518R )" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.165917259G>A" "" "likely pathogenic" "" "0000873628" "0" "70" "2" "166775908" "166775908" "subst" "0" "00000" "TTC21B_000068" "g.166775908A>G" "232" "{PMID:Sun 2018:30076350}" "" "TTC21B(NM_024753.4):c.1897C>T(p.Q633* )/c.1552T>C(p.C518R )" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.165919398A>G" "" "likely pathogenic" "" "0000883845" "0" "30" "2" "166731356" "166731356" "subst" "0.000961946" "02326" "TTC21B_000107" "g.166731356A>G" "" "" "" "TTC21B(NM_024753.5):c.3874-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883846" "0" "30" "2" "166747029" "166747029" "subst" "0.000325895" "01804" "TTC21B_000108" "g.166747029C>G" "" "" "" "TTC21B(NM_024753.4):c.3223G>C (p.(Val1075Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883847" "0" "30" "2" "166764313" "166764313" "subst" "0.00253694" "02326" "TTC21B_000109" "g.166764313T>G" "" "" "" "TTC21B(NM_024753.5):c.2462-19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883848" "0" "50" "2" "166771781" "166771781" "subst" "0" "01804" "TTC21B_000110" "g.166771781C>G" "" "" "" "TTC21B(NM_024753.4):c.2068G>C (p.(Ala690Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883849" "0" "30" "2" "166771884" "166771884" "subst" "0.00188567" "02326" "TTC21B_000111" "g.166771884C>T" "" "" "" "TTC21B(NM_024753.5):c.1965G>A (p.R655=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883850" "0" "30" "2" "166775889" "166775889" "subst" "0.000796716" "02326" "TTC21B_000112" "g.166775889G>C" "" "" "" "TTC21B(NM_024753.5):c.1571C>G (p.S524C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883851" "0" "30" "2" "166802215" "166802215" "subst" "2.88734E-5" "02326" "TTC21B_000113" "g.166802215T>C" "" "" "" "TTC21B(NM_024753.5):c.263-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883852" "0" "50" "2" "166806014" "166806014" "subst" "2.43918E-5" "01804" "TTC21B_000114" "g.166806014C>T" "" "" "" "TTC21B(NM_024753.4):c.152G>A (p.(Gly51Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000905932" "0" "70" "2" "166744788" "166744788" "subst" "0" "00000" "TTC21B_000115" "g.166744788C>T" "" "{PMID:Zhu 2022:35456422}" "" "TTC21B c.3459+1G>A, p.?" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.165888278C>T" "" "likely pathogenic" "ACMG" "0000905977" "0" "70" "2" "166785714" "166785714" "del" "0" "00000" "TTC21B_000082" "g.166785714del" "" "{PMID:Zhu 2022:35456422}" "" "TTC21B c.1320del, p.(Phe440Leufs*4)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.165929204del" "" "likely pathogenic" "ACMG" "0000911221" "0" "10" "2" "166758430" "166758430" "dup" "0" "02326" "TTC21B_000072" "g.166758430dup" "" "" "" "TTC21B(NM_024753.4):c.2569-5dup (p.?), TTC21B(NM_024753.5):c.2569-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911222" "0" "30" "2" "166773990" "166773990" "subst" "0.000390867" "02326" "TTC21B_000116" "g.166773990A>C" "" "" "" "TTC21B(NM_024753.5):c.1676T>G (p.V559G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911223" "0" "30" "2" "166786722" "166786722" "subst" "6.10173E-5" "02326" "TTC21B_000117" "g.166786722G>A" "" "" "" "TTC21B(NM_024753.5):c.1047C>T (p.T349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911224" "0" "30" "2" "166805888" "166805888" "subst" "0.00143489" "02326" "TTC21B_000102" "g.166805888C>T" "" "" "" "TTC21B(NM_024753.4):c.262+16G>A (p.(=)), TTC21B(NM_024753.5):c.262+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920655" "0" "70" "2" "166769088" "166769088" "subst" "0.0017551" "00006" "TTC21B_000014" "g.166769088G>A" "" "{PMID:Jacquemin 2023:36859317}" "" "" "candidate di-genic disease gene" "Germline" "" "" "0" "" "" "g.165912578G>A" "" "likely pathogenic (!)" "" "0000923330" "0" "30" "2" "166775810" "166775810" "subst" "0.000434928" "02326" "TTC21B_000118" "g.166775810T>C" "" "" "" "TTC21B(NM_024753.5):c.1650A>G (p.E550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923331" "0" "30" "2" "166775948" "166775948" "subst" "5.70539E-5" "02326" "TTC21B_000046" "g.166775948T>G" "" "" "" "TTC21B(NM_024753.4):c.1517-5A>C, TTC21B(NM_024753.5):c.1517-5A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928298" "0" "70" "2" "166789500" "166789500" "subst" "0" "02327" "TTC21B_000100" "g.166789500C>A" "" "" "" "TTC21B(NM_024753.5):c.778G>T (p.E260*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000928299" "0" "50" "2" "166799782" "166799782" "subst" "4.06329E-5" "01804" "TTC21B_000119" "g.166799782A>C" "" "" "" "TTC21B(NM_024753.4):c.499T>G (p.(Tyr167Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000939859" "3" "90" "2" "166797621" "166797621" "subst" "0.000126083" "00006" "TTC21B_000035" "g.166797621G>A" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.165941111G>A" "" "pathogenic (recessive)" "" "0000947387" "0" "30" "2" "166737176" "166737176" "subst" "8.55035E-5" "02326" "TTC21B_000120" "g.166737176T>C" "" "" "" "TTC21B(NM_024753.5):c.3805+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947388" "0" "30" "2" "166740464" "166740464" "subst" "8.13154E-6" "02326" "TTC21B_000069" "g.166740464C>T" "" "" "" "TTC21B(NM_024753.4):c.3524G>A (p.R1175Q), TTC21B(NM_024753.5):c.3524G>A (p.R1175Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947389" "0" "30" "2" "166769088" "166769088" "subst" "0.0017551" "02326" "TTC21B_000014" "g.166769088G>A" "" "" "" "TTC21B(NM_024753.4):c.2258C>T (p.P753L, p.(Pro753Leu)), TTC21B(NM_024753.5):c.2258C>T (p.P753L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947390" "0" "50" "2" "166786210" "166786212" "dup" "0" "01804" "TTC21B_000121" "g.166786210_166786212dup" "" "" "" "TTC21B(NM_024753.4):c.1134_1136dup (p.(Asp378_Gln379insHis))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947391" "0" "30" "2" "166797556" "166797556" "subst" "0.00106873" "02326" "TTC21B_000122" "g.166797556T>A" "" "" "" "TTC21B(NM_024753.5):c.691A>T (p.T231S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961395" "0" "50" "2" "166732742" "166732742" "subst" "0" "02326" "TTC21B_000123" "g.166732742C>A" "" "" "" "TTC21B(NM_024753.5):c.3806G>T (p.G1269V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961396" "0" "90" "2" "166747442" "166747442" "subst" "0" "02326" "TTC21B_000124" "g.166747442C>A" "" "" "" "TTC21B(NM_024753.5):c.3007G>T (p.E1003*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000961397" "0" "50" "2" "166755243" "166755243" "subst" "2.84678E-5" "01804" "TTC21B_000061" "g.166755243T>C" "" "" "" "TTC21B(NM_024753.4):c.2903A>G (p.(Tyr968Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974414" "0" "50" "2" "166785800" "166785800" "subst" "0.000106125" "01804" "TTC21B_000125" "g.166785800G>C" "" "" "" "TTC21B(NM_024753.5):c.1231C>G (p.(Arg411Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974415" "0" "90" "2" "166797621" "166797621" "subst" "0.000126083" "01804" "TTC21B_000035" "g.166797621G>A" "" "" "" "TTC21B(NM_024753.5):c.626C>T (p.(Pro209Leu), p.P209L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000991762" "0" "30" "2" "166781188" "166781188" "subst" "0.00302643" "01804" "TTC21B_000021" "g.166781188G>A" "" "" "" "TTC21B(NM_024753.4):c.1387C>T (p.(Pro463Ser)), TTC21B(NM_024753.5):c.1387C>T (p.P463S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991763" "0" "50" "2" "166805924" "166805924" "subst" "0" "01804" "TTC21B_000126" "g.166805924T>C" "" "" "" "TTC21B(NM_024753.4):c.242A>G (p.(His81Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024250" "0" "30" "2" "166758402" "166758402" "subst" "0.000776019" "02326" "TTC21B_000040" "g.166758402G>A" "" "" "" "TTC21B(NM_024753.4):c.2587C>T (p.(Arg863Trp)), TTC21B(NM_024753.5):c.2587C>T (p.R863W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024251" "0" "70" "2" "166786681" "166786681" "subst" "8.14312E-6" "02326" "TTC21B_000127" "g.166786681C>T" "" "" "" "TTC21B(NM_024753.5):c.1087+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001032470" "0" "70" "2" "166732674" "166732674" "subst" "4.08493E-6" "01804" "TTC21B_000002" "g.166732674C>T" "" "" "" "TTC21B(NM_024753.5):c.3873+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001032471" "0" "50" "2" "166747477" "166747477" "subst" "0.000154943" "01804" "TTC21B_000128" "g.166747477C>T" "" "" "" "TTC21B(NM_024753.5):c.2972G>A (p.(Arg991His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032472" "0" "50" "2" "166767959" "166767959" "subst" "4.88067E-5" "01804" "TTC21B_000129" "g.166767959T>A" "" "" "" "TTC21B(NM_024753.5):c.2339A>T (p.(Glu780Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032473" "0" "30" "2" "166773969" "166773969" "subst" "0.000581462" "01804" "TTC21B_000099" "g.166773969T>C" "" "" "" "TTC21B(NM_024753.5):c.1697A>G (p.(His566Arg), p.H566R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032474" "0" "50" "2" "166786697" "166786697" "subst" "4.06855E-6" "01804" "TTC21B_000130" "g.166786697C>T" "" "" "" "TTC21B(NM_024753.5):c.1072G>A (p.(Val358Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050858" "0" "50" "2" "166756364" "166756378" "del" "0" "01804" "TTC21B_000131" "g.166756364_166756378del" "" "" "" "TTC21B(NM_024753.5):c.2777_2791del (p.(Arg926_Ala930del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050859" "0" "50" "2" "166775887" "166775887" "subst" "2.84553E-5" "01804" "TTC21B_000132" "g.166775887A>G" "" "" "" "TTC21B(NM_024753.5):c.1573T>C (p.(Tyr525His))" "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 TTC21B ## Count = 183 "{{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}}" "0000079398" "00022027" "00" "-298339" "0" "1156795" "0" "c.-298339_*1152844del" "r.0?" "p.0?" "" "0000247938" "00022027" "10" "2175" "0" "2175" "0" "c.2175T>C" "r.(?)" "p.(Phe725=)" "" "0000250749" "00022027" "10" "3519" "0" "3519" "0" "c.3519T>C" "r.(?)" "p.(Thr1173=)" "" "0000251253" "00022027" "10" "1675" "-97" "1675" "-97" "c.1675-97T>C" "r.(=)" "p.(=)" "" "0000253199" "00022027" "10" "2175" "0" "2175" "0" "c.2175T>C" "r.(?)" "p.(Phe725=)" "" "0000253968" "00022027" "30" "3519" "0" "3519" "0" "c.3519T>C" "r.(?)" "p.(Thr1173=)" "" "0000255042" "00022027" "30" "3519" "0" "3519" "0" "c.3519T>G" "r.(?)" "p.(Thr1173=)" "" "0000312108" "00022027" "10" "1695" "0" "1695" "0" "c.1695C>T" "r.(?)" "p.(Tyr565=)" "" "0000312109" "00022027" "10" "826" "0" "826" "0" "c.826A>G" "r.(?)" "p.(Thr276Ala)" "" "0000314885" "00022027" "10" "4056" "0" "4056" "0" "c.*105G>A" "r.(=)" "p.(=)" "" "0000314886" "00022027" "90" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Gln379Ter)" "" "0000314888" "00022027" "10" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Pro463Ser)" "" "0000314889" "00022027" "10" "151" "32" "151" "32" "c.151+32G>C" "r.(=)" "p.(=)" "" "0000314892" "00022027" "10" "2211" "13" "2211" "13" "c.2211+13A>G" "r.(=)" "p.(=)" "" "0000314893" "00022027" "10" "2322" "3" "2322" "3" "c.2322+3A>G" "r.spl?" "p.?" "" "0000314894" "00022027" "10" "2472" "0" "2472" "0" "c.2472G>A" "r.(?)" "p.(Leu824=)" "" "0000314895" "00022027" "90" "2500" "0" "2500" "0" "c.2500C>T" "r.(?)" "p.(Gln834Ter)" "" "0000314897" "00022027" "10" "263" "-86" "263" "-86" "c.263-86A>C" "r.(=)" "p.(=)" "" "0000314898" "00022027" "30" "2758" "-91" "2758" "-91" "c.2758-91G>A" "r.(=)" "p.(=)" "" "0000314899" "00022027" "10" "3806" "-131" "3806" "-131" "c.3806-131C>T" "r.(=)" "p.(=)" "" "0000314900" "00022027" "90" "3873" "1" "3873" "1" "c.3873+1G>A" "r.spl?" "p.?" "" "0000314901" "00022027" "10" "430" "-52" "430" "-52" "c.430-52A>G" "r.(=)" "p.(=)" "" "0000314902" "00022027" "10" "665" "0" "665" "0" "c.665A>T" "r.(?)" "p.(Gln222Leu)" "" "0000314903" "00022027" "10" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Asp242Asn)" "" "0000314904" "00022027" "10" "838" "0" "838" "0" "c.838A>G" "r.(?)" "p.(Met280Val)" "" "0000318013" "00022027" "10" "-17" "0" "-17" "0" "c.-17C>T" "r.(?)" "p.(=)" "" "0000318014" "00022027" "30" "1417" "0" "1417" "0" "c.1417C>T" "r.(?)" "p.(Leu473Phe)" "" "0000318015" "00022027" "10" "1695" "0" "1695" "0" "c.1695C>T" "r.(?)" "p.(Tyr565=)" "" "0000318016" "00022027" "50" "1846" "0" "1846" "0" "c.1846C>T" "r.(?)" "p.(Arg616Cys)" "" "0000318017" "00022027" "10" "2211" "13" "2211" "13" "c.2211+13A>G" "r.(=)" "p.(=)" "" "0000318018" "00022027" "30" "2258" "0" "2258" "0" "c.2258C>T" "r.(?)" "p.(Pro753Leu)" "" "0000318019" "00022027" "30" "2385" "0" "2385" "0" "c.2385G>C" "r.(?)" "p.(Leu795=)" "" "0000318020" "00022027" "30" "2742" "0" "2742" "0" "c.2742C>T" "r.(?)" "p.(Cys914=)" "" "0000318021" "00022027" "90" "2776" "0" "2776" "0" "c.2776C>T" "r.(?)" "p.(Arg926Ter)" "" "0000318022" "00022027" "50" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" "" "0000318023" "00022027" "10" "826" "0" "826" "0" "c.826A>G" "r.(?)" "p.(Thr276Ala)" "" "0000348276" "00022027" "70" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "" "0000509873" "00022027" "50" "3196" "0" "3196" "0" "c.3196A>T" "r.(?)" "p.(Ile1066Phe)" "" "0000509874" "00022027" "50" "3004" "0" "3004" "0" "c.3004C>G" "r.(?)" "p.(Leu1002Val)" "" "0000509875" "00022027" "30" "3004" "0" "3004" "0" "c.3004C>G" "r.(?)" "p.(Leu1002Val)" "" "0000509876" "00022027" "50" "2854" "0" "2854" "0" "c.2854G>A" "r.(?)" "p.(Glu952Lys)" "" "0000509878" "00022027" "50" "2587" "0" "2587" "0" "c.2587C>T" "r.(?)" "p.(Arg863Trp)" "" "0000509879" "00022027" "50" "2587" "0" "2587" "0" "c.2587C>T" "r.(?)" "p.(Arg863Trp)" "" "0000509880" "00022027" "10" "2569" "-3" "2569" "-3" "c.2569-3dup" "r.spl?" "p.?" "" "0000509881" "00022027" "10" "2569" "-28" "2569" "-28" "c.2569-28del" "r.(=)" "p.(=)" "" "0000509882" "00022027" "30" "2322" "3" "2322" "3" "c.2322+3A>G" "r.spl?" "p.?" "" "0000509883" "00022027" "30" "2258" "0" "2258" "0" "c.2258C>T" "r.(?)" "p.(Pro753Leu)" "" "0000509884" "00022027" "30" "1964" "0" "1964" "0" "c.1964G>A" "r.(?)" "p.(Arg655Gln)" "" "0000509885" "00022027" "10" "1870" "0" "1870" "0" "c.1870A>G" "r.(?)" "p.(Ile624Val)" "" "0000509886" "00022027" "30" "1846" "0" "1846" "0" "c.1846C>T" "r.(?)" "p.(Arg616Cys)" "" "0000509887" "00022027" "30" "1578" "0" "1578" "0" "c.1578T>C" "r.(?)" "p.(Ala526=)" "" "0000509888" "00022027" "30" "1517" "-5" "1517" "-5" "c.1517-5A>C" "r.spl?" "p.?" "" "0000509889" "00022027" "30" "1417" "0" "1417" "0" "c.1417C>T" "r.(?)" "p.(Leu473Phe)" "" "0000509890" "00022027" "10" "1387" "-55" "1387" "-55" "c.1387-55dup" "r.(=)" "p.(=)" "" "0000509891" "00022027" "50" "711" "0" "711" "0" "c.711G>T" "r.(?)" "p.(Arg237Ser)" "" "0000509892" "00022027" "10" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Val201Met)" "" "0000509893" "00022027" "10" "21" "18" "21" "33" "c.21+18_21+33dup" "r.(=)" "p.(=)" "" "0000509894" "00022027" "10" "21" "26" "21" "33" "c.21+26_21+33dup" "r.(=)" "p.(=)" "" "0000596986" "00022027" "50" "3256" "0" "3256" "0" "c.3256G>T" "r.(?)" "p.(Asp1086Tyr)" "" "0000650169" "00022027" "50" "4798" "0" "4798" "0" "c.*847A>C" "r.(=)" "p.(=)" "" "0000650170" "00022027" "50" "3797" "0" "3797" "0" "c.3797C>T" "r.(?)" "p.(Pro1266Leu)" "" "0000650171" "00022027" "90" "2500" "0" "2500" "0" "c.2500C>T" "r.(?)" "p.(Gln834*)" "" "0000650172" "00022027" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "" "0000676075" "00022027" "30" "3627" "0" "3627" "0" "c.3627A>G" "r.(?)" "p.(Gln1209=)" "" "0000676076" "00022027" "30" "1846" "0" "1846" "0" "c.1846C>T" "r.(?)" "p.(Arg616Cys)" "" "0000676077" "00022027" "30" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Asp242Asn)" "" "0000676078" "00022027" "30" "249" "0" "249" "0" "c.249G>T" "r.(?)" "p.(Met83Ile)" "" "0000684740" "00022027" "30" "2322" "3" "2322" "3" "c.2322+3A>G" "r.spl?" "p.?" "" "0000685495" "00022027" "90" "1088" "-1" "1088" "-1" "c.1088-1G>C" "r.spl" "p.?" "" "0000685496" "00022027" "70" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.?" "" "0000688373" "00022027" "30" "1816" "0" "1816" "0" "c.1816G>A" "r.(?)" "p.(Asp606Asn)" "" "0000717942" "00022027" "30" "3004" "0" "3004" "0" "c.3004C>G" "r.(?)" "p.(Leu1002Val)" "" "0000717943" "00022027" "90" "1656" "0" "1659" "0" "c.1656_1659del" "r.(?)" "p.(Cys552*)" "" "0000717944" "00022027" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "" "0000730089" "00022027" "90" "1174" "0" "1184" "0" "c.1174_1184del" "r.spl?" "p.?" "" "0000785445" "00022027" "50" "2903" "0" "2903" "0" "c.2903A>G" "r.(?)" "p.(Tyr968Cys)" "" "0000791993" "00022027" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "6" "0000791994" "00022027" "90" "1654" "-7" "1654" "-7" "c.1654-7delTGTC" "r.spl?" "p.?" "13" "0000791995" "00022027" "90" "448" "0" "448" "0" "c.448T>C" "r.(?)" "p.(Trp150Arg)" "5" "0000791996" "00022027" "90" "3264" "-3" "3264" "-3" "c.3264-3C>G" "r.spl?" "p.?" "24i" "0000791997" "00022027" "90" "2758" "-2" "2758" "-2" "c.2758-2A>G" "r.spl?" "p.?" "20i" "0000791998" "00022027" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "6" "0000792017" "00022027" "90" "2258" "0" "2258" "0" "c.2258C>T" "r.(?)" "p.(Pro753Leu)" "17" "0000792018" "00022027" "90" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.(Arg863Gln)" "20" "0000792019" "00022027" "90" "3004" "0" "3004" "0" "c.3004C>G" "r.(?)" "p.(Leu1002Val)" "23" "0000799763" "00022027" "30" "3524" "0" "3524" "0" "c.3524G>A" "r.(?)" "p.(Arg1175Gln)" "" "0000799764" "00022027" "50" "2895" "0" "2895" "0" "c.2895A>T" "r.(?)" "p.(Lys965Asn)" "" "0000799765" "00022027" "30" "2600" "0" "2600" "0" "c.2600G>A" "r.(?)" "p.(Arg867His)" "" "0000799766" "00022027" "30" "2569" "-5" "2569" "-5" "c.2569-5dup" "r.spl?" "p.?" "" "0000799767" "00022027" "30" "838" "0" "838" "0" "c.838A>G" "r.(?)" "p.(Met280Val)" "" "0000799768" "00022027" "30" "665" "0" "665" "0" "c.665A>T" "r.(?)" "p.(Gln222Leu)" "" "0000799769" "00022027" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "" "0000799770" "00022027" "30" "117" "0" "117" "0" "c.117C>G" "r.(?)" "p.(Phe39Leu)" "" "0000813975" "00022027" "50" "1846" "0" "1846" "0" "c.1846C>T" "r.(?)" "p.(Arg616Cys)" "14" "0000814006" "00022027" "50" "2138" "0" "2138" "0" "c.2138G>T" "r.(?)" "p.(Arg713Ile)" "15" "0000814007" "00022027" "50" "2587" "0" "2587" "0" "c.2587C>T" "r.(?)" "p.(Arg863Trp)" "20" "0000814750" "00022027" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "" "0000816287" "00022027" "50" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Gln388*)" "" "0000816292" "00022027" "50" "2868" "1" "2868" "1" "c.2868+1G>T" "r.spl" "p.(?)" "" "0000818834" "00022027" "90" "1397" "0" "1397" "0" "c.1397C>A" "r.(?)" "p.(Pro466His)" "12" "0000818835" "00022027" "90" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Ala499Thr)" "12" "0000818836" "00022027" "90" "703" "0" "703" "0" "c.703G>C" "r.(?)" "p.(Ala235Pro)" "6" "0000818837" "00022027" "90" "131" "0" "131" "0" "c.131C>A" "r.(?)" "p.(Ala44Asp)" "2" "0000818838" "00022027" "90" "2500" "0" "2500" "0" "c.2500C>T" "r.(?)" "p.(Gln834*)" "19" "0000818839" "00022027" "90" "1320" "0" "1320" "0" "c.1320del" "r.(?)" "p.(Phe440Leufs*4)" "11" "0000818840" "00022027" "90" "3605" "0" "3605" "0" "c.3605T>C" "r.(?)" "p.(Leu1202Pro)" "26" "0000818913" "00022027" "70" "2014" "0" "2014" "0" "c.2014C>T" "r.(?)" "p.(Arg672Trp)" "15" "0000818915" "00022027" "70" "2693" "0" "2693" "0" "c.2693G>A" "r.(?)" "p.(Arg898Gln)" "20" "0000818928" "00022027" "70" "19" "0" "20" "0" "c.19_20insGCGGGTG" "r.(?)" "p.(Lys7Serfs*3)" "1" "0000834108" "00022027" "70" "3864" "0" "3865" "0" "c.3864_3865del" "r.(?)" "p.(Ile1288MetfsTer6)" "28" "0000834109" "00022027" "50" "1552" "0" "1552" "0" "c.1552T>C" "r.(?)" "p.(Cys518Arg)" "13" "0000834110" "00022027" "90" "1656" "0" "1659" "0" "c.1656_1659del" "r.(?)" "p.(Cys552Ter)" "13" "0000834111" "00022027" "90" "1656" "0" "1659" "0" "c.1656_1659del" "r.(?)" "p.(Cys552Ter)" "13" "0000834112" "00022027" "90" "553" "-2" "553" "-2" "c.553-2A>T" "r.spl" "p.?" "5i" "0000834165" "00022027" "50" "880" "0" "880" "0" "c.880G>T" "r.(?)" "p.(Ala294Ser)" "8" "0000834166" "00022027" "50" "752" "0" "752" "0" "c.752T>G" "r.(?)" "p.(Met251Arg)" "7" "0000834167" "00022027" "90" "1552" "0" "1552" "0" "c.1552T>C" "r.(?)" "p.(Cys518Arg)" "13" "0000834168" "00022027" "90" "1552" "0" "1552" "0" "c.1552T>C" "r.(?)" "p.(Cys518Arg)" "13" "0000834169" "00022027" "90" "1552" "0" "1552" "0" "c.1552T>C" "r.(?)" "p.(Cys518Arg)" "13" "0000845900" "00022027" "90" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Ala127Thr)" "" "0000845901" "00022027" "90" "2572" "0" "2572" "0" "c.2572C>T" "r.(?)" "p.(Arg858*)" "" "0000849017" "00022027" "50" "3932" "0" "3932" "0" "c.3932G>A" "r.(?)" "p.(Arg1311His)" "" "0000849018" "00022027" "30" "2829" "0" "2829" "0" "c.2829A>G" "r.(?)" "p.(Leu943=)" "" "0000849019" "00022027" "30" "2472" "0" "2472" "0" "c.2472G>A" "r.(?)" "p.(Leu824=)" "" "0000849020" "00022027" "50" "2161" "0" "2161" "0" "c.2161A>C" "r.(?)" "p.(Asn721His)" "" "0000849021" "00022027" "50" "1963" "0" "1963" "0" "c.1963C>T" "r.(?)" "p.(Arg655Trp)" "" "0000849022" "00022027" "30" "1867" "0" "1867" "0" "c.1867T>C" "r.(?)" "p.(Leu623=)" "" "0000849023" "00022027" "30" "1725" "0" "1725" "0" "c.1725A>G" "r.(?)" "p.(Lys575=)" "" "0000849024" "00022027" "50" "1697" "0" "1697" "0" "c.1697A>G" "r.(?)" "p.(His566Arg)" "" "0000849025" "00022027" "30" "468" "0" "468" "0" "c.468A>G" "r.(?)" "p.(Gly156=)" "" "0000857815" "00022027" "10" "2742" "0" "2742" "0" "c.2742C>T" "r.(?)" "p.(Cys914=)" "" "0000857816" "00022027" "50" "1883" "0" "1883" "0" "c.1883G>A" "r.(?)" "p.(Arg628His)" "" "0000857817" "00022027" "30" "1870" "0" "1870" "0" "c.1870A>G" "r.(?)" "p.(Ile624Val)" "" "0000857818" "00022027" "90" "1656" "0" "1659" "0" "c.1656_1659del" "r.(?)" "p.(Cys552*)" "" "0000857819" "00022027" "90" "778" "0" "778" "0" "c.778G>T" "r.(?)" "p.(Glu260*)" "" "0000857820" "00022027" "30" "262" "16" "262" "16" "c.262+16G>A" "r.(=)" "p.(=)" "" "0000872761" "00022027" "50" "1427" "0" "1427" "0" "c.1427G>A" "r.(?)" "p.(Arg476His)" "12" "0000872763" "00022027" "70" "126" "0" "128" "0" "c.126_128del" "r.(?)" "p.(Glu43del)" "2" "0000873609" "00022027" "70" "1552" "0" "1552" "0" "c.1552T>C" "r.(?)" "p.(Cys518Arg)" "" "0000873610" "00022027" "70" "895" "0" "895" "0" "c.895T>C" "r.(?)" "p.(Cys299Arg)" "" "0000873627" "00022027" "70" "1897" "0" "1897" "0" "c.1897C>T" "r.(?)" "p.(Gln633*)" "" "0000873628" "00022027" "70" "1552" "0" "1552" "0" "c.1552T>C" "r.(?)" "p.(Cys518Arg)" "" "0000883845" "00022027" "30" "3874" "-14" "3874" "-14" "c.3874-14T>C" "r.(=)" "p.(=)" "" "0000883846" "00022027" "30" "3223" "0" "3223" "0" "c.3223G>C" "r.(?)" "p.(Val1075Leu)" "" "0000883847" "00022027" "30" "2462" "-19" "2462" "-19" "c.2462-19A>C" "r.(=)" "p.(=)" "" "0000883848" "00022027" "50" "2068" "0" "2068" "0" "c.2068G>C" "r.(?)" "p.(Ala690Pro)" "" "0000883849" "00022027" "30" "1965" "0" "1965" "0" "c.1965G>A" "r.(?)" "p.(Arg655=)" "" "0000883850" "00022027" "30" "1571" "0" "1571" "0" "c.1571C>G" "r.(?)" "p.(Ser524Cys)" "" "0000883851" "00022027" "30" "263" "-15" "263" "-15" "c.263-15A>G" "r.(=)" "p.(=)" "" "0000883852" "00022027" "50" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Gly51Asp)" "" "0000905932" "00022027" "70" "3459" "1" "3459" "1" "c.3459+1G>A" "r.spl" "p.?" "" "0000905977" "00022027" "70" "1320" "0" "1320" "0" "c.1320del" "r.(?)" "p.(Phe440Leufs*4)" "" "0000911221" "00022027" "10" "2569" "-5" "2569" "-5" "c.2569-5dup" "r.spl?" "p.?" "" "0000911222" "00022027" "30" "1676" "0" "1676" "0" "c.1676T>G" "r.(?)" "p.(Val559Gly)" "" "0000911223" "00022027" "30" "1047" "0" "1047" "0" "c.1047C>T" "r.(?)" "p.(Thr349=)" "" "0000911224" "00022027" "30" "262" "16" "262" "16" "c.262+16G>A" "r.(=)" "p.(=)" "" "0000920655" "00022027" "70" "2258" "0" "2258" "0" "c.2258C>T" "r.(?)" "p.(Pro753Leu)" "" "0000923330" "00022027" "30" "1650" "0" "1650" "0" "c.1650A>G" "r.(?)" "p.(Glu550=)" "" "0000923331" "00022027" "30" "1517" "-5" "1517" "-5" "c.1517-5A>C" "r.spl?" "p.?" "" "0000928298" "00022027" "70" "778" "0" "778" "0" "c.778G>T" "r.(?)" "p.(Glu260*)" "" "0000928299" "00022027" "50" "499" "0" "499" "0" "c.499T>G" "r.(?)" "p.(Tyr167Asp)" "" "0000939859" "00022027" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "6" "0000947387" "00022027" "30" "3805" "13" "3805" "13" "c.3805+13A>G" "r.(=)" "p.(=)" "" "0000947388" "00022027" "30" "3524" "0" "3524" "0" "c.3524G>A" "r.(?)" "p.(Arg1175Gln)" "" "0000947389" "00022027" "30" "2258" "0" "2258" "0" "c.2258C>T" "r.(?)" "p.(Pro753Leu)" "" "0000947390" "00022027" "50" "1134" "0" "1136" "0" "c.1134_1136dup" "r.(?)" "p.(Asp378_Gln379insHis)" "" "0000947391" "00022027" "30" "691" "0" "691" "0" "c.691A>T" "r.(?)" "p.(Thr231Ser)" "" "0000961395" "00022027" "50" "3806" "0" "3806" "0" "c.3806G>T" "r.(?)" "p.(Gly1269Val)" "" "0000961396" "00022027" "90" "3007" "0" "3007" "0" "c.3007G>T" "r.(?)" "p.(Glu1003*)" "" "0000961397" "00022027" "50" "2903" "0" "2903" "0" "c.2903A>G" "r.(?)" "p.(Tyr968Cys)" "" "0000974414" "00022027" "50" "1231" "0" "1231" "0" "c.1231C>G" "r.(?)" "p.(Arg411Gly)" "" "0000974415" "00022027" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "" "0000991762" "00022027" "30" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Pro463Ser)" "" "0000991763" "00022027" "50" "242" "0" "242" "0" "c.242A>G" "r.(?)" "p.(His81Arg)" "" "0001024250" "00022027" "30" "2587" "0" "2587" "0" "c.2587C>T" "r.(?)" "p.(Arg863Trp)" "" "0001024251" "00022027" "70" "1087" "1" "1087" "1" "c.1087+1G>A" "r.spl?" "p.?" "" "0001032470" "00022027" "70" "3873" "1" "3873" "1" "c.3873+1G>A" "r.spl?" "p.?" "" "0001032471" "00022027" "50" "2972" "0" "2972" "0" "c.2972G>A" "r.(?)" "p.(Arg991His)" "" "0001032472" "00022027" "50" "2339" "0" "2339" "0" "c.2339A>T" "r.(?)" "p.(Glu780Val)" "" "0001032473" "00022027" "30" "1697" "0" "1697" "0" "c.1697A>G" "r.(?)" "p.(His566Arg)" "" "0001032474" "00022027" "50" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Val358Met)" "" "0001050858" "00022027" "50" "2777" "0" "2791" "0" "c.2777_2791del" "r.(?)" "p.(Arg926_Ala930del)" "" "0001050859" "00022027" "50" "1573" "0" "1573" "0" "c.1573T>C" "r.(?)" "p.(Tyr525His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 58 "{{screeningid}}" "{{variantid}}" "0000028983" "0000785445" "0000050418" "0000079398" "0000266323" "0000596986" "0000293480" "0000650169" "0000293481" "0000650170" "0000293482" "0000650171" "0000293483" "0000650172" "0000309838" "0000684740" "0000310584" "0000685495" "0000310585" "0000685496" "0000332807" "0000730089" "0000378979" "0000791993" "0000378979" "0000791994" "0000378980" "0000791995" "0000378980" "0000791996" "0000378981" "0000791997" "0000378981" "0000791998" "0000378997" "0000792017" "0000378998" "0000792018" "0000378999" "0000792019" "0000386453" "0000813975" "0000386470" "0000814006" "0000386471" "0000814007" "0000386926" "0000814750" "0000388129" "0000816287" "0000388134" "0000816292" "0000389653" "0000818834" "0000389653" "0000818835" "0000389653" "0000818836" "0000389654" "0000818837" "0000389654" "0000818838" "0000389655" "0000818839" "0000389655" "0000818840" "0000389705" "0000818913" "0000389706" "0000818915" "0000389710" "0000818928" "0000401065" "0000834108" "0000401065" "0000834165" "0000401066" "0000834109" "0000401066" "0000834166" "0000401067" "0000834110" "0000401067" "0000834167" "0000401068" "0000834111" "0000401068" "0000834168" "0000401069" "0000834112" "0000401069" "0000834169" "0000408896" "0000845900" "0000408896" "0000845901" "0000415029" "0000872761" "0000415029" "0000872763" "0000415731" "0000873609" "0000415731" "0000873610" "0000415745" "0000873627" "0000415745" "0000873628" "0000428249" "0000905932" "0000428265" "0000905977" "0000434782" "0000920655" "0000441917" "0000939859"