### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RCBTB1) # 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}}" "RCBTB1" "regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1" "13" "q14" "unknown" "NG_046892.1" "UD_132319725323" "" "https://www.LOVD.nl/RCBTB1" "" "1" "18243" "55213" "607867" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/RCBTB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-07-14 17:31:52" "00006" "2025-04-07 13:47:05" ## 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}}" "00017573" "RCBTB1" "regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1" "001" "NM_018191.3" "" "NP_060661.3" "" "" "" "-261" "3772" "1596" "50159719" "50106082" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "" "" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01167" "ALCOHOLISM" "alcohol dependence" "" "103780" "" "" "" "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" "04240" "EVR;FEVR" "vitreoretinopathy, exudative (EVR; familial FVER))" "" "" "" "" "" "00006" "2015-04-10 12:38:11" "00006" "2019-07-31 13:55:30" "05305" "RDEOA" "dystrophy, retinal, with/without extraocular anomalies (RDEOA)" "AR" "617175" "" "" "" "00006" "2017-07-14 18:34:11" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RCBTB1" "01167" "RCBTB1" "05305" ## Individuals ## Do not remove or alter this header ## ## Count = 52 "{{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}}" "00183355" "" "" "" "3" "" "00006" "{PMID:Coppieters 2016:27486781}" "2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "" "Italy" "" "0" "" "" "" "27486781-FamF2" "00183356" "" "" "" "1" "" "00006" "{PMID:Coppieters 2016:27486781}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Greece" "" "0" "" "" "" "27486781-FamF3" "00183357" "" "" "" "4" "" "00006" "{PMID:Coppieters 2016:27486781}" "3-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "" "Greece" "" "0" "" "" "" "27486781-FamF4" "00183358" "" "" "" "1" "" "00006" "{PMID:Coppieters 2016:27486781}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Algeria" "" "0" "" "" "" "27486781-FamF5" "00183359" "" "" "" "1" "" "00006" "{PMID:Coppieters 2016:27486781}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "27486781-FamF6" "00263089" "" "" "" "2" "" "03383" "{PMID:Wu 2016:26908610}" "family of 3-generations, 2 affected" "M" "no" "Taiwan" "" "0" "" "" "" "E9 III-2" "00263295" "" "" "00263089" "1" "" "03383" "{PMID:Wu 2016:26908610}" "3 generation family, 2 affected" "M" "no" "Taiwan" "" "0" "" "right eye intraocular lens implantation" "" "E9 III-4" "00263296" "" "" "" "1" "" "03383" "{PMID:Wu 2016:26908610}" "2 generation family, 1 affected" "M" "no" "Taiwan" "" "0" "" "cryopexy, pars plana vitrectomy, removal of subretinal fibrous cord" "" "E5 II-1" "00263300" "" "" "" "3" "" "03383" "{PMID:Coppieters 2016:27486781}" "5 generation consanguineous family, 3 affected" "F" "yes" "Belgium" "" "0" "" "" "Turkish" "F1 V:1" "00263407" "" "" "" "2" "" "03383" "{PMID:Van Cauwenbergh 2016:27608171}" "4 generation family, 2 affected" "M" "no" "Belgium" "" "0" "" "" "" "III:2:P4" "00358947" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71472" "00389837" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 765, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1121" "00395863" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F171" "00395917" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F238" "00395933" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F282" "00413762" "" "" "" "1" "" "00000" "{PMID:Huang-2019:31494449}" "" "F" "" "" "" "0" "" "" "Singaporean-Chinese" "" "00413763" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "16755" "00413764" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "11465" "00413765" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "9948" "00413766" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "6237" "00413767" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "16538" "00413768" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "12790" "00413769" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "17842" "00413770" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "6540" "00413771" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "8126" "00413772" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "7973" "00413773" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "6391" "00413774" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "10442" "00413775" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "794" "00413776" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "1228" "00413777" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "8739" "00413778" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "9192" "00413779" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "18927" "00413780" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "9923" "00413781" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "7317" "00413782" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "6163" "00413783" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "5284" "00413784" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "6874" "00413785" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "5208" "00413786" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "NC1" "00413787" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "12782" "00413788" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "4673" "00413789" "" "" "" "1" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "19024" "00413790" "" "" "" "2" "" "00000" "{PMID:Yang 2020:33104391}" "" "" "" "" "" "0" "" "" "" "NC2, NC3" "00420492" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F171" "00420540" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F238" "00420571" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F282" "00429604" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429710" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00430075" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00447544" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-843" "00447685" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "MISC-301" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 53 "{{individualid}}" "{{diseaseid}}" "00183355" "04214" "00183356" "04214" "00183357" "04214" "00183358" "04214" "00183359" "04214" "00263089" "04240" "00263295" "04240" "00263296" "04240" "00263300" "04214" "00263300" "04240" "00263407" "04214" "00358947" "04214" "00389837" "04214" "00395863" "04214" "00395917" "04214" "00395933" "04214" "00413762" "04214" "00413763" "04214" "00413764" "04214" "00413765" "04214" "00413766" "04214" "00413767" "04214" "00413768" "04214" "00413769" "04214" "00413770" "04214" "00413771" "04214" "00413772" "04214" "00413773" "04214" "00413774" "04214" "00413775" "04214" "00413776" "04214" "00413777" "04214" "00413778" "04214" "00413779" "04214" "00413780" "04214" "00413781" "04214" "00413782" "04214" "00413783" "04214" "00413784" "04214" "00413785" "04214" "00413786" "00000" "00413787" "04214" "00413788" "04214" "00413789" "04214" "00413790" "00000" "00420492" "04214" "00420540" "04214" "00420571" "04214" "00429604" "00112" "00429710" "00112" "00430075" "00112" "00447544" "00198" "00447685" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00112, 00198, 01167, 04214, 04240, 05305 ## Count = 52 "{{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}}" "0000144091" "04214" "00183355" "00006" "Familial, autosomal recessive" "" "see paper; ..., progressive pattern-like\r\nreticular dystrophy" "" "" "" "" "" "" "" "" "RDEOA" "retinitis pigmentosa" "" "0000144092" "04214" "00183356" "00006" "Familial, autosomal recessive" "" "central chorioretinal atrophy, peripheral reticular dystrophy, thyroid nodules, cold\r\nintolerance, dyslipidemia (son with autism\r\nand ID)" "50y" "" "" "" "" "" "" "" "RDEOA" "retinitis pigmentosa" "" "0000144093" "04214" "00183357" "00006" "Familial, autosomal recessive" "" "central chorioretinal atrophy, peripheral reticular dystrophy, sensorineural hearing loss (adult onset), ..." "" "" "" "" "" "" "" "" "RDEOA" "retinitis pigmentosa" "" "0000144094" "04214" "00183358" "00006" "Familial, autosomal recessive" "" "progressive pattern-like reticular dystrophy, lung fibrosis" "48y" "" "" "" "" "" "" "" "RDEOA" "retinitis pigmentosa" "" "0000144095" "04214" "00183359" "00006" "Familial, autosomal recessive" "" "retinal dystrophy starting with bilateral vision loss, fundus with bilateral irregular pigmentations mainly in the mid-periphery" "" "" "" "" "" "" "" "" "RDEOA" "retinitis pigmentosa" "" "0000201534" "04240" "00263089" "03383" "Familial" "?" "familial exudative vitreoretinopathy (HP:0030490); no sign of retinitis pigmentosa (HP:0000510); left eye: total traction retinal detachment (HP:0007917), corneal opacity (HP:0007957), retinal hole (HP:0011530)" "00y" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000201654" "04240" "00263295" "03383" "Familial" "" "familial exudative retinopathy (HP:0030490), right eye fibrovascular stalk (HP:0007968), left eye (HP:0001103)" "00y" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000201657" "04240" "00263296" "03383" "Familial, autosomal dominant" "" "subretinal lipid exudate (HP:0011532), right eye exudative retinal detachment (HP:0012231), right eye Coats disease (HP:0030490), left eye aphakia (HP:0007707)" "03y" "" "" "" "" "" "" "" "Coats disease" "" "" "0000201658" "04214" "00263300" "03383" "Familial, autosomal recessive" "16y" "severe retinitis pigmentosa (HP:0000510), goiter (HP:0000853), primary ovarian insufficiency (HP:0008209), mild intellectual disability (HP:0001256)" "17y" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000201769" "04214" "00263407" "03383" "Familial" "" "retinitis pigmentosa (HP:0000510), night blindness (HP:0000662), chorioretinal atrophy (HP:0000533)" "47y" "" "night blindness (HP:0000662)" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000254245" "04214" "00358947" "00000" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000283378" "04214" "00389837" "00000" "Familial, autosomal recessive" "44y" "age at genetic diagnosis mentioned" "" "43y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000289025" "04214" "00395863" "00000" "Unknown" "47y1m" "" "46y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289079" "04214" "00395917" "00000" "Unknown" "37y6m" "" "21y" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000289095" "04214" "00395933" "00000" "Unknown" "56y8m" "" "56y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305727" "04214" "00413762" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Central chorioretinal atrophy" "" "0000305728" "04214" "00413763" "00000" "Isolated (sporadic)" "52y" "attenuated retinal arterioles and tapetoretinal degeneration with intraretinal pigment, severe visual field loss, and significantly reduced rod and cone responses with full field ERG" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305729" "04214" "00413764" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CORD)" "" "0000305730" "04214" "00413765" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "high myopia (HM)" "" "0000305731" "04214" "00413766" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital cataract (CC)" "" "0000305732" "04214" "00413767" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal diseases (RD)" "" "0000305733" "04214" "00413768" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "glaucoma" "" "0000305734" "04214" "00413769" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma (RB)" "" "0000305735" "04214" "00413770" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000305736" "04214" "00413771" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305737" "04214" "00413772" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305738" "04214" "00413773" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "glaucoma" "" "0000305739" "04214" "00413774" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "glaucoma" "" "0000305740" "04214" "00413775" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "high myopia (HM)" "" "0000305741" "04214" "00413776" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "high myopia (HM)" "" "0000305742" "04214" "00413777" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "high myopia (HM)" "" "0000305743" "04214" "00413778" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305744" "04214" "00413779" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305745" "04214" "00413780" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "high myopia (HM)" "" "0000305746" "04214" "00413781" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "glaucoma" "" "0000305747" "04214" "00413782" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305748" "04214" "00413783" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305749" "04214" "00413784" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "glaucoma" "" "0000305750" "04214" "00413785" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ocular albinism (OA)" "" "0000305751" "00000" "00413786" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "normal" "" "0000305752" "04214" "00413787" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "glaucoma" "" "0000305753" "04214" "00413788" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "high myopia (HM)" "" "0000305754" "04214" "00413789" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular degeneration (MD)" "" "0000305755" "00000" "00413790" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "normal" "" "0000311740" "04214" "00420492" "00000" "Familial, autosomal recessive" "47y1m" "" "46y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311788" "04214" "00420540" "00000" "Familial, autosomal recessive" "37y6m" "" "21y" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000311819" "04214" "00420571" "00000" "Familial, autosomal recessive" "56y8m" "" "56y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000320476" "00112" "00429604" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320582" "00112" "00429710" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320947" "00112" "00430075" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000336743" "00198" "00447544" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336884" "00198" "00447685" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" ## Screenings ## Do not remove or alter this header ## ## Count = 52 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184316" "00183355" "1" "00006" "00006" "2018-10-23 18:53:49" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000184317" "00183356" "1" "00006" "00006" "2018-10-23 18:56:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000184318" "00183357" "1" "00006" "00006" "2018-10-23 19:00:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000184319" "00183358" "1" "00006" "00006" "2018-10-23 19:02:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000184320" "00183359" "1" "00006" "00006" "2018-10-23 19:07:50" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000264195" "00263089" "1" "03383" "03383" "2019-08-22 00:09:17" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000264401" "00263295" "1" "03383" "03383" "2019-08-24 02:20:47" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000264407" "00263296" "1" "03383" "03383" "2019-08-24 12:21:21" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000264410" "00263300" "1" "03383" "03383" "2019-08-24 16:47:57" "" "" "SEQ-NG-I" "DNA" "peripheral blood leukocytes" "WES" "0000264517" "00263407" "1" "03383" "03383" "2019-08-27 11:58:06" "" "" "arrayCNV" "DNA" "leukocytes" "five probe groups containing multiple genes" "0000360184" "00358947" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000391080" "00389837" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000397102" "00395863" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397156" "00395917" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397172" "00395933" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000415042" "00413762" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ" "DNA" "" "" "0000415043" "00413763" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415044" "00413764" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415045" "00413765" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415046" "00413766" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415047" "00413767" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415048" "00413768" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415049" "00413769" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415050" "00413770" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415051" "00413771" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415052" "00413772" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415053" "00413773" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415054" "00413774" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415055" "00413775" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415056" "00413776" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415057" "00413777" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415058" "00413778" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415059" "00413779" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415060" "00413780" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415061" "00413781" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415062" "00413782" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415063" "00413783" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415064" "00413784" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415065" "00413785" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415066" "00413786" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415067" "00413787" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415068" "00413788" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415069" "00413789" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415070" "00413790" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000421801" "00420492" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421849" "00420540" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421880" "00420571" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000431017" "00429604" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431123" "00429710" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431488" "00430075" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000449121" "00447544" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449262" "00447685" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 46 "{{screeningid}}" "{{geneid}}" "0000184316" "RCBTB1" "0000184317" "RCBTB1" "0000184318" "RCBTB1" "0000184319" "RCBTB1" "0000184320" "RCBTB1" "0000264517" "RCBTB1" "0000264517" "USH2A" "0000391080" "RCBTB1" "0000397102" "RCBTB1" "0000397156" "RCBTB1" "0000397172" "RCBTB1" "0000415042" "RCBTB1" "0000415043" "RCBTB1" "0000415044" "RCBTB1" "0000415045" "RCBTB1" "0000415046" "RCBTB1" "0000415047" "RCBTB1" "0000415048" "RCBTB1" "0000415049" "RCBTB1" "0000415050" "RCBTB1" "0000415051" "RCBTB1" "0000415052" "RCBTB1" "0000415053" "RCBTB1" "0000415054" "RCBTB1" "0000415055" "RCBTB1" "0000415056" "RCBTB1" "0000415057" "RCBTB1" "0000415058" "RCBTB1" "0000415059" "RCBTB1" "0000415060" "RCBTB1" "0000415061" "RCBTB1" "0000415062" "RCBTB1" "0000415063" "RCBTB1" "0000415064" "RCBTB1" "0000415065" "RCBTB1" "0000415066" "RCBTB1" "0000415067" "RCBTB1" "0000415068" "RCBTB1" "0000415069" "RCBTB1" "0000415070" "RCBTB1" "0000421801" "RCBTB1" "0000421849" "RCBTB1" "0000421880" "RCBTB1" "0000431017" "RCBTB1" "0000431123" "RCBTB1" "0000431488" "RCBTB1" ## 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 = 85 "{{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}}" "0000323404" "0" "50" "13" "50102794" "50102794" "subst" "0.00260644" "01804" "PHF11_000002" "g.50102794C>A" "" "" "" "PHF11(NM_001040443.1):c.989C>A (p.(Ser330Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49528658C>A" "" "VUS" "" "0000408337" "3" "90" "13" "50123720" "50123720" "subst" "1.22135E-5" "00006" "RCBTB1_000002" "g.50123720C>T" "" "{PMID:Coppieters 2016:27486781}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49549584C>T" "" "pathogenic (recessive)" "" "0000408338" "3" "90" "13" "50123720" "50123720" "subst" "1.22135E-5" "00006" "RCBTB1_000002" "g.50123720C>T" "" "{PMID:Coppieters 2016:27486781}" "" "" "" "Germline" "" "" "0" "" "" "g.49549584C>T" "" "pathogenic (recessive)" "" "0000408339" "3" "90" "13" "50123709" "50123709" "subst" "8.13326E-6" "00006" "RCBTB1_000003" "g.50123709C>A" "" "{PMID:Coppieters 2016:27486781}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49549573C>A" "" "pathogenic (recessive)" "" "0000408340" "3" "90" "13" "50118894" "50118894" "subst" "8.55767E-5" "00006" "RCBTB1_000004" "g.50118894T>C" "" "{PMID:Coppieters 2016:27486781}" "" "" "" "Germline" "" "" "0" "" "" "g.49544758T>C" "" "pathogenic (recessive)" "" "0000408341" "3" "50" "13" "50115934" "50115934" "subst" "3.2631E-5" "00006" "RCBTB1_000005" "g.50115934G>A" "" "{PMID:Coppieters 2016:27486781}" "" "" "" "Germline" "" "" "0" "" "" "g.49541798G>A" "" "VUS" "" "0000408342" "3" "90" "13" "50118881" "50118881" "subst" "0" "00006" "RCBTB1_000006" "g.50118881C>A" "" "{PMID:Coppieters 2016:27486781}" "" "" "" "Germline" "" "" "0" "" "" "g.49544745C>A" "" "pathogenic (recessive)" "" "0000550895" "0" "50" "13" "50108364" "50108364" "subst" "0.00165727" "02330" "RCBTB1_000007" "g.50108364T>C" "" "" "" "RCBTB1(NM_018191.4):c.1490A>G (p.N497S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49534228T>C" "" "VUS" "" "0000550896" "0" "10" "13" "50115849" "50115849" "subst" "3.25108E-5" "02330" "RCBTB1_000008" "g.50115849G>A" "" "" "" "RCBTB1(NM_018191.4):c.1287C>T (p.Y429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49541713G>A" "" "benign" "" "0000550897" "0" "50" "13" "50118933" "50118933" "subst" "0" "01943" "RCBTB1_000009" "g.50118933T>C" "" "" "" "RCBTB1(NM_018191.3):c.1112A>G (p.D371G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49544797T>C" "" "VUS" "" "0000550898" "0" "10" "13" "50123688" "50123688" "subst" "0.00378011" "02330" "RCBTB1_000010" "g.50123688G>A" "" "" "" "RCBTB1(NM_001352506.1):c.372C>T (p.S124=), RCBTB1(NM_018191.4):c.951C>T (p.S317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49549552G>A" "" "benign" "" "0000550899" "0" "10" "13" "50123688" "50123688" "subst" "0.00264893" "01943" "RCBTB1_000011" "g.50123688G>C" "" "" "" "RCBTB1(NM_018191.3):c.951C>G (p.S317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49549552G>C" "" "benign" "" "0000550900" "0" "30" "13" "50123748" "50123748" "subst" "0.000142858" "01943" "RCBTB1_000012" "g.50123748C>T" "" "" "" "RCBTB1(NM_001352506.2):c.312G>A (p.T104=), RCBTB1(NM_018191.3):c.891G>A (p.T297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49549612C>T" "" "likely benign" "" "0000550901" "0" "50" "13" "50134135" "50134135" "subst" "0" "02330" "RCBTB1_000013" "g.50134135G>T" "" "" "" "RCBTB1(NM_018191.4):c.363C>A (p.V121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49559999G>T" "" "VUS" "" "0000550902" "0" "30" "13" "50140758" "50140758" "subst" "9.85618E-5" "02330" "RCBTB1_000014" "g.50140758G>A" "" "" "" "RCBTB1(NM_018191.4):c.273C>T (p.T91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49566622G>A" "" "likely benign" "" "0000594954" "20" "90" "13" "50118872" "50118872" "subst" "0" "03383" "RCBTB1_000015" "g.50118872C>T" "" "{PMID:Wu 2016:26908610}" "" "" "variant is pathogenic (dominant) but with a reduced penetrance (unaffected carrier parents)" "Germline" "?" "" "0" "" "" "g.49544736C>T" "" "pathogenic (!)" "" "0000594956" "20" "90" "13" "50118872" "50118872" "subst" "0" "03383" "RCBTB1_000015" "g.50118872C>T" "" "{PMID:Wu 2016:26908610}" "" "" "variant is pathogenic (dominant) but with a reduced penetrance (unaffected carrier parents)" "Germline" "?" "" "0" "" "" "g.49544736C>T" "" "pathogenic (!)" "" "0000594962" "10" "90" "13" "50126319" "50126319" "del" "0" "03383" "RCBTB1_000016" "g.50126319del" "" "{PMID:Wu 2016:26908610}" "" "707delA" "variant is pathogenic (dominant) but with a reduced penetrance (unaffected carrier parents)" "Germline" "" "" "0" "" "" "g.49552183del" "" "pathogenic (!)" "" "0000594963" "3" "90" "13" "50123666" "50123666" "subst" "0.000142328" "03383" "RCBTB1_000001" "g.50123666G>A" "" "{PMID:Coppieters 2016:27486781}" "" "" "" "Germline" "yes" "rs200826424" "0" "" "" "g.49549530G>A" "" "pathogenic (recessive)" "" "0000595077" "20" "50" "13" "50129660" "50129660" "subst" "0.00178696" "03383" "RCBTB1_000017" "g.50129660G>C" "" "{PMID:Van Cauwenbergh 2016:27608171}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49555524G>C" "" "VUS" "" "0000595088" "0" "90" "13" "50122563" "50161054" "dup" "0" "03383" "RCBTB1_000018" "g.(50121800_50122563)_(50161054_?)dup" "" "{PMID:Van Cauwenbergh 2016:27608171}" "" "c.1-?_1045+?dup" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000614659" "0" "10" "13" "50119010" "50119010" "subst" "0.00113143" "02330" "RCBTB1_000019" "g.50119010C>T" "" "" "" "RCBTB1(NM_018191.4):c.1046-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49544874C>T" "" "benign" "" "0000614660" "0" "10" "13" "50140824" "50140824" "subst" "0.00591312" "02330" "RCBTB1_000020" "g.50140824T>G" "" "" "" "RCBTB1(NM_018191.4):c.207A>C (p.E69D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49566688T>G" "" "benign" "" "0000623070" "0" "30" "13" "50123748" "50123748" "subst" "0.000142858" "02330" "RCBTB1_000012" "g.50123748C>T" "" "" "" "RCBTB1(NM_001352506.2):c.312G>A (p.T104=), RCBTB1(NM_018191.3):c.891G>A (p.T297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49549612C>T" "" "likely benign" "" "0000679828" "0" "30" "13" "50123688" "50123688" "subst" "0.00378011" "01943" "RCBTB1_000010" "g.50123688G>A" "" "" "" "RCBTB1(NM_001352506.1):c.372C>T (p.S124=), RCBTB1(NM_018191.4):c.951C>T (p.S317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691557" "0" "30" "13" "50129660" "50129660" "subst" "0.00178696" "01943" "RCBTB1_000017" "g.50129660G>C" "" "" "" "RCBTB1(NM_001352506.1):c.15C>G (p.D5E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724555" "0" "90" "13" "50108356" "50108356" "del" "0" "01943" "RCBTB1_000021" "g.50108356del" "" "" "" "RCBTB1(NM_001352506.1):c.919delA (p.T307Qfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724556" "0" "50" "13" "50108358" "50108358" "subst" "0" "01943" "RCBTB1_000022" "g.50108358A>C" "" "" "" "RCBTB1(NM_001352506.1):c.917T>G (p.L306W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000759972" "0" "50" "13" "50140873" "50140873" "subst" "2.43867E-5" "00000" "RCBTB1_000023" "g.50140873C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.49566737C>T" "" "VUS" "" "0000806193" "0" "30" "13" "50123583" "50123583" "subst" "1.25549E-5" "02330" "RCBTB1_000024" "g.50123583C>G" "" "" "" "RCBTB1(NM_001352506.2):c.466+11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806194" "0" "70" "13" "50125461" "50125461" "subst" "0" "02330" "RCBTB1_000025" "g.50125461C>A" "" "" "" "RCBTB1(NM_001352506.1):c.275+1G>T, RCBTB1(NM_001352506.2):c.275+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000806195" "0" "30" "13" "50134144" "50134144" "subst" "2.84303E-5" "01943" "RCBTB1_000026" "g.50134144G>A" "" "" "" "RCBTB1(NM_001352500.1):c.354C>T (p.P118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000820425" "1" "70" "13" "50123709" "50123709" "subst" "8.13326E-6" "00000" "RCBTB1_000003" "g.50123709C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RCBTB1, variant 1: c.930G>T/p.W310C, variant 2: c.930G>T/p.W310C" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.49549573C>A" "" "likely pathogenic" "" "0000828848" "3" "90" "13" "50126319" "50126319" "del" "0" "00000" "RCBTB1_000016" "g.50126319del" "" "{PMID:Chen 2021:43360855}" "" "RCBTB1 c.[707del];[707del], V1: c.707delA, (p.Asn236ThrfsTer11)" "homozygous" "Unknown" "?" "" "0" "" "" "g.49552183del" "" "pathogenic" "ACMG" "0000828902" "3" "90" "13" "50126319" "50126319" "del" "0" "00000" "RCBTB1_000016" "g.50126319del" "" "{PMID:Chen 2021:43360855}" "" "RCBTB1 c.[707del];[707del], V1: c.707delA, (p.Asn236ThrfsTer11)" "homozygous" "Unknown" "?" "" "0" "" "" "g.49552183del" "" "pathogenic" "ACMG" "0000828918" "3" "90" "13" "50126319" "50126319" "del" "0" "00000" "RCBTB1_000016" "g.50126319del" "" "{PMID:Chen 2021:43360855}" "" "RCBTB1 c.[707del];[707del], V1: c.707delA, (p.Asn236ThrfsTer11)" "homozygous" "Unknown" "?" "" "0" "" "" "g.49552183del" "" "pathogenic" "ACMG" "0000853688" "0" "30" "13" "50115084" "50115084" "subst" "0.000134203" "01943" "RCBTB1_000027" "g.50115084G>A" "" "" "" "RCBTB1(NM_001352506.1):c.804C>T (p.H268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853689" "0" "70" "13" "50125461" "50125461" "subst" "0" "01943" "RCBTB1_000025" "g.50125461C>A" "" "" "" "RCBTB1(NM_001352506.1):c.275+1G>T, RCBTB1(NM_001352506.2):c.275+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000853690" "0" "50" "13" "50140877" "50140877" "subst" "6.91214E-5" "01943" "RCBTB1_000029" "g.50140877T>G" "" "" "" "RCBTB1(NM_001352500.1):c.154A>C (p.N52H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863397" "0" "30" "13" "50126395" "50126395" "subst" "0.000111336" "01943" "RCBTB1_000028" "g.50126395G>A" "" "" "" "RCBTB1(NM_001352506.1):c.51C>T (p.N17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000872782" "1" "90" "13" "50140861" "50140861" "del" "2.43724E-5" "00000" "RCBTB1_000036" "g.50140861del" "" "{PMID:Huang-2019:31494449}" "" "c.170delG" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000872783" "2" "90" "13" "50126318" "50126318" "del" "0.000116722" "00000" "RCBTB1_000016" "g.50126318del" "" "{PMID:Huang-2020:31494449}" "" "c.707delA" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000872784" "1" "90" "13" "50140861" "50140861" "del" "2.43724E-5" "00000" "RCBTB1_000036" "g.50140861del" "" "{PMID:Yang 2020:33104391}" "" "c.170delG and c.905_906insTT" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000872785" "2" "90" "13" "50123733" "50123734" "ins" "0" "00000" "RCBTB1_000034" "g.50123733_50123734insAA" "" "{PMID:Yang 2020:33104391}" "" "c.170delG and c.905_906insTT" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000872786" "0" "10" "13" "50140879" "50140879" "delins" "0" "00000" "RCBTB1_000037" "g.50140879delinsAA" "" "{PMID:Yang 2020:33104391}" "" "c.152delinsTT" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872787" "0" "10" "13" "50125530" "50125533" "del" "0" "00000" "RCBTB1_000035" "g.50125530_50125533del" "" "{PMID:Yang 2020:33104391}" "" "c.783_786delATAT" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872788" "0" "10" "13" "50118922" "50118922" "subst" "8.13756E-6" "00000" "RCBTB1_000033" "g.50118922G>A" "" "{PMID:Yang 2020:33104391}" "" "c.1123C>T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872789" "0" "10" "13" "50115873" "50115874" "del" "8.12301E-6" "00000" "RCBTB1_000031" "g.50115873_50115874del" "" "{PMID:Yang 2020:33104391}" "" "c.1262_1263delAT" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872790" "0" "10" "13" "50115039" "50115039" "del" "0" "00000" "RCBTB1_000030" "g.50115039del" "" "{PMID:Yang 2020:33104391}" "" "c.1428delC" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872791" "0" "10" "13" "50141288" "50141288" "del" "0" "00000" "RCBTB1_000038" "g.50141288del" "" "{PMID:Yang 2020:33104391}" "" "c.126+2delT" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872792" "0" "10" "13" "50118872" "50118872" "subst" "0" "00000" "RCBTB1_000032" "g.50118872C>G" "" "{PMID:Yang 2020:33104391}" "" "c.1172+1G>C" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872793" "0" "10" "13" "50140861" "50140861" "del" "2.43724E-5" "00000" "RCBTB1_000036" "g.50140861del" "" "{PMID:Yang 2020:33104391}" "" "c.170delG" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872794" "0" "10" "13" "50140861" "50140861" "del" "2.43724E-5" "00000" "RCBTB1_000036" "g.50140861del" "" "{PMID:Yang 2020:33104391}" "" "c.170delG" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872795" "0" "10" "13" "50140861" "50140861" "del" "2.43724E-5" "00000" "RCBTB1_000036" "g.50140861del" "" "{PMID:Yang 2020:33104391}" "" "c.170delG" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872796" "0" "10" "13" "50140861" "50140861" "del" "2.43724E-5" "00000" "RCBTB1_000036" "g.50140861del" "" "{PMID:Yang 2020:33104391}" "" "c.170delG" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872797" "0" "10" "13" "50140861" "50140861" "del" "2.43724E-5" "00000" "RCBTB1_000036" "g.50140861del" "" "{PMID:Yang 2020:33104391}" "" "c.170delG" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872798" "0" "10" "13" "50140861" "50140861" "del" "2.43724E-5" "00000" "RCBTB1_000036" "g.50140861del" "" "{PMID:Yang 2020:33104391}" "" "c.170delG" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872799" "0" "10" "13" "50140861" "50140861" "del" "2.43724E-5" "00000" "RCBTB1_000036" "g.50140861del" "" "{PMID:Yang 2020:33104391}" "" "c.170delG" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872800" "0" "10" "13" "50126318" "50126318" "del" "0.000116722" "00000" "RCBTB1_000016" "g.50126318del" "" "{PMID:Yang 2020:33104391}" "" "c.707delA" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872801" "0" "10" "13" "50126318" "50126318" "del" "0.000116722" "00000" "RCBTB1_000016" "g.50126318del" "" "{PMID:Yang 2020:33104391}" "" "c.707delA" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872802" "0" "10" "13" "50126318" "50126318" "del" "0.000116722" "00000" "RCBTB1_000016" "g.50126318del" "" "{PMID:Yang 2020:33104391}" "" "c.707delA" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872803" "0" "10" "13" "50126318" "50126318" "del" "0.000116722" "00000" "RCBTB1_000016" "g.50126318del" "" "{PMID:Yang 2020:33104391}" "" "c.707delA" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872804" "0" "10" "13" "50126318" "50126318" "del" "0.000116722" "00000" "RCBTB1_000016" "g.50126318del" "" "{PMID:Yang 2020:33104391}" "" "c.707delA" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872805" "0" "10" "13" "50126318" "50126318" "del" "0.000116722" "00000" "RCBTB1_000016" "g.50126318del" "" "{PMID:Yang 2020:33104391}" "" "c.707delA" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872806" "0" "10" "13" "50126318" "50126318" "del" "0.000116722" "00000" "RCBTB1_000016" "g.50126318del" "" "{PMID:Yang 2020:33104391}" "" "c.707delA" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872807" "0" "10" "13" "50126318" "50126318" "del" "0.000116722" "00000" "RCBTB1_000016" "g.50126318del" "" "{PMID:Yang 2020:33104391}" "" "c.707delA" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872808" "0" "10" "13" "50126318" "50126318" "del" "0.000116722" "00000" "RCBTB1_000016" "g.50126318del" "" "{PMID:Yang 2020:33104391}" "" "c.707delA" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872809" "0" "10" "13" "50141458" "50141458" "subst" "1.26178E-5" "00000" "RCBTB1_000039" "g.50141458T>G" "" "{PMID:Yang 2020:33104391}" "" "c.-41-2A>C" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872810" "0" "10" "13" "50141458" "50141458" "subst" "1.26178E-5" "00000" "RCBTB1_000039" "g.50141458T>G" "" "{PMID:Yang 2020:33104391}" "" "c.-41-2A>C" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872811" "0" "10" "13" "50141458" "50141458" "subst" "1.26178E-5" "00000" "RCBTB1_000039" "g.50141458T>G" "" "{PMID:Yang 2020:33104391}" "" "c.-41-2A>C" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000872812" "0" "10" "13" "50115873" "50115874" "del" "8.12301E-6" "00000" "RCBTB1_000031" "g.50115873_50115874del" "" "{PMID:Yang 2020:33104391}" "" "c.1262_1263delAT" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000891557" "0" "50" "13" "50129677" "50129677" "subst" "2.43667E-5" "02330" "RCBTB1_000040" "g.50129677A>C" "" "" "" "RCBTB1(NM_018191.4):c.577T>G (p.S193A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896601" "3" "90" "13" "50126319" "50126319" "del" "0" "00000" "RCBTB1_000016" "g.50126319del" "Taiwan Biobank: 0.00231; GnomAD_exome_East: 0.00146; GnomAD_All: 0.000113" "{PMID:Chen 2021:33608557}" "" "RCBTB1 c.[707del];[707del]; p.(Asn236ThrfsTer11)" "homozygous" "Germline" "yes" "" "0" "" "" "g.49552183del" "" "pathogenic" "" "0000896665" "3" "90" "13" "50126319" "50126319" "del" "0" "00000" "RCBTB1_000016" "g.50126319del" "Taiwan Biobank: 0.00231; GnomAD_exome_East: 0.00146; GnomAD_All: 0.000113" "{PMID:Chen 2021:33608557}" "" "RCBTB1 c.[707del];[707del]; p.(Asn236ThrfsTer11)" "homozygous" "Germline" "yes" "" "0" "" "" "g.49552183del" "" "pathogenic" "" "0000896711" "3" "90" "13" "50126319" "50126319" "del" "0" "00000" "RCBTB1_000016" "g.50126319del" "Taiwan Biobank: 0.00231; GnomAD_exome_East: 0.00146; GnomAD_All: 0.000113" "{PMID:Chen 2021:33608557}" "" "RCBTB1 c.[707del];[707del]; p.(Asn236ThrfsTer11)" "homozygous" "Germline" "yes" "" "0" "" "" "g.49552183del" "" "pathogenic" "" "0000914110" "0" "30" "13" "50115000" "50115000" "subst" "0.000853313" "02330" "RCBTB1_000041" "g.50115000T>C" "" "" "" "RCBTB1(NM_001352504.2):c.*3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914111" "0" "10" "13" "50121322" "50121324" "dup" "0" "02330" "RCBTB1_000042" "g.50121322_50121324dup" "" "" "" "RCBTB1(NM_001352506.2):c.466+2280_466+2282dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914112" "0" "10" "13" "50121323" "50121324" "dup" "0" "02330" "RCBTB1_000043" "g.50121323_50121324dup" "" "" "" "RCBTB1(NM_001352506.2):c.466+2281_466+2282dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914113" "0" "10" "13" "50121324" "50121324" "dup" "0" "02330" "RCBTB1_000044" "g.50121324dup" "" "" "" "RCBTB1(NM_001352506.2):c.466+2282dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915947" "1" "50" "13" "50129767" "50129767" "subst" "0" "04436" "RCBTB1_000046" "g.50129767C>G" "" "{PMID:Panneman 2023:36819107}" "" "c.487G>C" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000915948" "2" "90" "13" "50126312" "50126312" "subst" "1.64429E-5" "04436" "RCBTB1_000045" "g.50126312A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.711+2T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916092" "3" "50" "13" "50123720" "50123720" "subst" "1.22135E-5" "04436" "RCBTB1_000002" "g.50123720C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.919G>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916671" "3" "50" "13" "50141340" "50141340" "subst" "0" "04436" "RCBTB1_000047" "g.50141340C>A" "" "{PMID:Panneman 2023:36819107}" "" "c.76G>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000959327" "0" "50" "13" "50123666" "50123666" "subst" "0.000142328" "00006" "RCBTB1_000001" "g.50123666G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5" "Germline" "" "" "0" "" "" "g.49549530G>A" "" "VUS" "ACMG" "0000959456" "0" "50" "13" "50123666" "50123666" "subst" "0.000142328" "00006" "RCBTB1_000001" "g.50123666G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.49549530G>A" "" "VUS" "ACMG" ## 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 RCBTB1 ## Count = 85 "{{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}}" "0000323404" "00017573" "50" "7060" "0" "7060" "0" "c.*5464G>T" "r.(=)" "p.(=)" "" "0000408337" "00017573" "90" "919" "0" "919" "0" "c.919G>A" "r.(?)" "p.(Val307Met)" "" "0000408338" "00017573" "90" "919" "0" "919" "0" "c.919G>A" "r.(?)" "p.(Val307Met)" "" "0000408339" "00017573" "90" "930" "0" "930" "0" "c.930G>T" "r.(?)" "p.(Trp310Cys)" "" "0000408340" "00017573" "90" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(His384Arg)" "" "0000408341" "00017573" "50" "1202" "0" "1202" "0" "c.1202C>T" "r.(?)" "p.(Ser401Leu)" "" "0000408342" "00017573" "90" "1164" "0" "1164" "0" "c.1164G>T" "r.(?)" "p.(Leu388Phe)" "" "0000550895" "00017573" "50" "1490" "0" "1490" "0" "c.1490A>G" "r.(?)" "p.(Asn497Ser)" "" "0000550896" "00017573" "10" "1287" "0" "1287" "0" "c.1287C>T" "r.(?)" "p.(Tyr429=)" "" "0000550897" "00017573" "50" "1112" "0" "1112" "0" "c.1112A>G" "r.(?)" "p.(Asp371Gly)" "" "0000550898" "00017573" "10" "951" "0" "951" "0" "c.951C>T" "r.(?)" "p.(Ser317=)" "" "0000550899" "00017573" "10" "951" "0" "951" "0" "c.951C>G" "r.(?)" "p.(Ser317=)" "" "0000550900" "00017573" "30" "891" "0" "891" "0" "c.891G>A" "r.(?)" "p.(Thr297=)" "" "0000550901" "00017573" "50" "363" "0" "363" "0" "c.363C>A" "r.(?)" "p.(Val121=)" "" "0000550902" "00017573" "30" "273" "0" "273" "0" "c.273C>T" "r.(?)" "p.(Thr91=)" "" "0000594954" "00017573" "90" "1172" "1" "1172" "1" "c.1172+1G>A" "r.spl" "p.(Glu349Glyfs*17)" "10i" "0000594956" "00017573" "90" "1172" "1" "1172" "1" "c.1172+1G>A" "r.spl" "p.(Glu349Glyfs*17)" "10i" "0000594962" "00017573" "90" "707" "0" "707" "0" "c.707del" "r.(?)" "p.(Asn236Thrfs*11)" "7" "0000594963" "00017573" "90" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(His325Tyr)" "9" "0000595077" "00017573" "50" "594" "0" "594" "0" "c.594C>G" "r.(?)" "p.(Asp198Glu)" "6" "0000595088" "00017573" "90" "-1596" "0" "1045" "1031" "c.(?_-1596)_(1045+1031_1045+1794)dup" "r.0?" "p.0?" "_1_9_" "0000614659" "00017573" "10" "1046" "-11" "1046" "-11" "c.1046-11G>A" "r.(=)" "p.(=)" "" "0000614660" "00017573" "10" "207" "0" "207" "0" "c.207A>C" "r.(?)" "p.(Glu69Asp)" "" "0000623070" "00017573" "30" "891" "0" "891" "0" "c.891G>A" "r.(?)" "p.(Thr297=)" "" "0000679828" "00017573" "30" "951" "0" "951" "0" "c.951C>T" "r.(?)" "p.(Ser317=)" "" "0000691557" "00017573" "30" "594" "0" "594" "0" "c.594C>G" "r.(?)" "p.(Asp198Glu)" "" "0000724555" "00017573" "90" "1498" "0" "1498" "0" "c.1498del" "r.(?)" "p.(Thr500Glnfs*17)" "" "0000724556" "00017573" "50" "1496" "0" "1496" "0" "c.1496T>G" "r.(?)" "p.(Leu499Trp)" "" "0000759972" "00017573" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Cys53Tyr)" "" "0000806193" "00017573" "30" "1045" "11" "1045" "11" "c.1045+11G>C" "r.(=)" "p.(=)" "" "0000806194" "00017573" "70" "854" "1" "854" "1" "c.854+1G>T" "r.spl?" "p.?" "" "0000806195" "00017573" "30" "354" "0" "354" "0" "c.354C>T" "r.(?)" "p.(Pro118=)" "" "0000820425" "00017573" "70" "930" "0" "930" "0" "c.930G>T" "r.(?)" "p.(Trp310Cys)" "" "0000828848" "00017573" "90" "707" "0" "707" "0" "c.707del" "r.(?)" "p.(Asn236Thrfs*11)" "" "0000828902" "00017573" "90" "707" "0" "707" "0" "c.707del" "r.(?)" "p.(Asn236Thrfs*11)" "" "0000828918" "00017573" "90" "707" "0" "707" "0" "c.707del" "r.(?)" "p.(Asn236Thrfs*11)" "" "0000853688" "00017573" "30" "1383" "0" "1383" "0" "c.1383C>T" "r.(?)" "p.(His461=)" "" "0000853689" "00017573" "70" "854" "1" "854" "1" "c.854+1G>T" "r.spl?" "p.?" "" "0000853690" "00017573" "50" "154" "0" "154" "0" "c.154A>C" "r.(?)" "p.(Asn52His)" "" "0000863397" "00017573" "30" "630" "0" "630" "0" "c.630C>T" "r.(?)" "p.(Asn210=)" "" "0000872782" "00017573" "90" "170" "0" "170" "0" "c.170del" "r.(?)" "p.(Gly57Glufs*12)" "4" "0000872783" "00017573" "90" "707" "0" "707" "0" "c.707del" "r.(?)" "p.(Asn236Thrfs*11)" "7" "0000872784" "00017573" "90" "170" "0" "170" "0" "c.170del" "r.(?)" "p.(Gly57Glufs*12)" "4" "0000872785" "00017573" "90" "905" "0" "906" "0" "c.905_906insTT" "r.(?)" "p.(Gln303Cysfs*17)" "9" "0000872786" "00017573" "10" "152" "0" "152" "0" "c.152delinsTT" "r.(?)" "p.(Ser51Ilefs*2)" "4" "0000872787" "00017573" "10" "783" "0" "786" "0" "c.783_786del" "r.(?)" "p.(Tyr262Glyfs*12)" "8" "0000872788" "00017573" "10" "1123" "0" "1123" "0" "c.1123C>T" "r.(?)" "p.(Arg375*)" "10" "0000872789" "00017573" "10" "1262" "0" "1263" "0" "c.1262_1263del" "r.(?)" "p.(Tyr421Serfs*31)" "11" "0000872790" "00017573" "10" "1428" "0" "1428" "0" "c.1428del" "r.(?)" "p.(Ser477Leufs*11)" "12" "0000872791" "00017573" "10" "126" "2" "126" "2" "c.126+2del" "r.spl?" "p.?" "3i" "0000872792" "00017573" "10" "1172" "1" "1172" "1" "c.1172+1G>C" "r.spl?" "p.?" "10i" "0000872793" "00017573" "10" "170" "0" "170" "0" "c.170del" "r.(?)" "p.(Gly57Glufs*12)" "4" "0000872794" "00017573" "10" "170" "0" "170" "0" "c.170del" "r.(?)" "p.(Gly57Glufs*12)" "4" "0000872795" "00017573" "10" "170" "0" "170" "0" "c.170del" "r.(?)" "p.(Gly57Glufs*12)" "4" "0000872796" "00017573" "10" "170" "0" "170" "0" "c.170del" "r.(?)" "p.(Gly57Glufs*12)" "4" "0000872797" "00017573" "10" "170" "0" "170" "0" "c.170del" "r.(?)" "p.(Gly57Glufs*12)" "4" "0000872798" "00017573" "10" "170" "0" "170" "0" "c.170del" "r.(?)" "p.(Gly57Glufs*12)" "4" "0000872799" "00017573" "10" "170" "0" "170" "0" "c.170del" "r.(?)" "p.(Gly57Glufs*12)" "4" "0000872800" "00017573" "10" "707" "0" "707" "0" "c.707del" "r.(?)" "p.(Asn236Thrfs*11)" "7" "0000872801" "00017573" "10" "707" "0" "707" "0" "c.707del" "r.(?)" "p.(Asn236Thrfs*11)" "7" "0000872802" "00017573" "10" "707" "0" "707" "0" "c.707del" "r.(?)" "p.(Asn236Thrfs*11)" "7" "0000872803" "00017573" "10" "707" "0" "707" "0" "c.707del" "r.(?)" "p.(Asn236Thrfs*11)" "7" "0000872804" "00017573" "10" "707" "0" "707" "0" "c.707del" "r.(?)" "p.(Asn236Thrfs*11)" "7" "0000872805" "00017573" "10" "707" "0" "707" "0" "c.707del" "r.(?)" "p.(Asn236Thrfs*11)" "7" "0000872806" "00017573" "10" "707" "0" "707" "0" "c.707del" "r.(?)" "p.(Asn236Thrfs*11)" "7" "0000872807" "00017573" "10" "707" "0" "707" "0" "c.707del" "r.(?)" "p.(Asn236Thrfs*11)" "7" "0000872808" "00017573" "10" "707" "0" "707" "0" "c.707del" "r.(?)" "p.(Asn236Thrfs*11)" "7" "0000872809" "00017573" "10" "-41" "-2" "-41" "-2" "c.-41-2A>C" "r.spl?" "p.?" "2i" "0000872810" "00017573" "10" "-41" "-2" "-41" "-2" "c.-41-2A>C" "r.spl?" "p.?" "2i" "0000872811" "00017573" "10" "-41" "-2" "-41" "-2" "c.-41-2A>C" "r.spl?" "p.?" "2i" "0000872812" "00017573" "10" "1262" "0" "1263" "0" "c.1262_1263del" "r.(?)" "p.(Tyr421Serfs*31)" "11" "0000891557" "00017573" "50" "577" "0" "577" "0" "c.577T>G" "r.(?)" "p.(Ser193Ala)" "" "0000896601" "00017573" "90" "707" "0" "707" "0" "c.707delA" "r.(?)" "p.(Asn236ThrfsTer11)" "" "0000896665" "00017573" "90" "707" "0" "707" "0" "c.707delA" "r.(?)" "p.(Asn236ThrfsTer11)" "" "0000896711" "00017573" "90" "707" "0" "707" "0" "c.707delA" "r.(?)" "p.(Asn236ThrfsTer11)" "" "0000914110" "00017573" "30" "1455" "12" "1455" "12" "c.1455+12A>G" "r.(=)" "p.(=)" "" "0000914111" "00017573" "10" "1045" "2280" "1045" "2282" "c.1045+2280_1045+2282dup" "r.(=)" "p.(=)" "" "0000914112" "00017573" "10" "1045" "2281" "1045" "2282" "c.1045+2281_1045+2282dup" "r.(=)" "p.(=)" "" "0000914113" "00017573" "10" "1045" "2282" "1045" "2282" "c.1045+2282dup" "r.(=)" "p.(=)" "" "0000915947" "00017573" "50" "487" "0" "487" "0" "c.487G>C" "r.(?)" "p.(Gly163Arg)" "6" "0000915948" "00017573" "90" "711" "2" "711" "2" "c.711+2T>C" "r.spl?" "p.(?)" "7i" "0000916092" "00017573" "50" "919" "0" "919" "0" "c.919G>A" "r.(?)" "p.(Val307Met)" "9" "0000916671" "00017573" "50" "76" "0" "76" "0" "c.76G>T" "r.(?)" "p.(Val26Phe)" "3" "0000959327" "00017573" "50" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(His325Tyr)" "" "0000959456" "00017573" "50" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(His325Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 57 "{{screeningid}}" "{{variantid}}" "0000184316" "0000408337" "0000184317" "0000408338" "0000184318" "0000408339" "0000184319" "0000408340" "0000184319" "0000408341" "0000184320" "0000408342" "0000264195" "0000594954" "0000264401" "0000594956" "0000264407" "0000594962" "0000264410" "0000594963" "0000264517" "0000595077" "0000264517" "0000595088" "0000360184" "0000759972" "0000391080" "0000820425" "0000397102" "0000828848" "0000397156" "0000828902" "0000397172" "0000828918" "0000415042" "0000872782" "0000415042" "0000872783" "0000415043" "0000872784" "0000415043" "0000872785" "0000415044" "0000872786" "0000415045" "0000872787" "0000415046" "0000872788" "0000415047" "0000872789" "0000415048" "0000872790" "0000415049" "0000872791" "0000415050" "0000872792" "0000415051" "0000872793" "0000415052" "0000872794" "0000415053" "0000872795" "0000415054" "0000872796" "0000415055" "0000872797" "0000415056" "0000872798" "0000415057" "0000872799" "0000415058" "0000872800" "0000415059" "0000872801" "0000415060" "0000872802" "0000415061" "0000872803" "0000415062" "0000872804" "0000415063" "0000872805" "0000415064" "0000872806" "0000415065" "0000872807" "0000415066" "0000872808" "0000415067" "0000872809" "0000415068" "0000872810" "0000415069" "0000872811" "0000415070" "0000872812" "0000421801" "0000896601" "0000421849" "0000896665" "0000421880" "0000896711" "0000431017" "0000915947" "0000431017" "0000915948" "0000431123" "0000916092" "0000431488" "0000916671" "0000449121" "0000959327" "0000449262" "0000959456"