### LOVD-version 3000-21c ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TBC1D24) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "TBC1D24" "TBC1 domain family, member 24" "16" "p13.3" "unknown" "NG_028170.1" "UD_132084544887" "" "" "" "1" "1" "29203" "57465" "613577" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/TBC1D24_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-12-14 00:00:00" "00081" "2015-08-05 02:07:01" "00006" "2019-02-24 22:41:07" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00001779" "TBC1D24" "transcript variant 1" "001" "NM_001199107.1" "" "NP_001186036.1" "" "" "" "-140" "6455" "1680" "2525147" "2555734" "00001" "2012-12-14 09:58:12" "" "" "00023820" "TBC1D24" "transcript variant 2" "002" "NM_020705.2" "" "NP_065756.1" "" "" "" "-140" "6437" "1662" "2525147" "2555734" "00006" "2013-05-27 16:35:44" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{symbol}}" "{{name}}" "{{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" "" "" "00097" "FIME" "epilepsy, myoclonic, infantile, familial (FIME)" "605021" "" "" "" "00001" "2012-12-14 10:00:34" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00283" "EIEE-16" "encephalopathy, epileptic, early infantile, type 16 (EIEE-16)" "615338" "" "" "" "00081" "2013-11-28 15:56:49" "00006" "2015-02-20 16:51:47" "00284" "-" "epilepsy, myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy" "" "" "" "" "00081" "2013-11-28 15:59:11" "00006" "2015-12-08 23:59:30" "00285" "-" "epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy" "" "" "" "" "00081" "2013-11-28 15:59:54" "00006" "2019-02-14 14:51:22" "00286" "DOORS" "deafness, onychodystrophy, osteodystrophy, mental retardation syndrome (DOORS)" "220500" "" "" "" "00081" "2013-11-28 16:01:26" "00006" "2015-12-07 07:11:25" "00294" "DFNB-86" "deafness, nonsyndromic, autosomal recessive, type 86 (DFNB-86)" "614617" "" "" "" "00081" "2014-01-08 19:33:40" "00006" "2015-12-07 07:11:25" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00350" "DFNA" "deafness, nonsyndromic (DFNA, autosomal dominant)" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "00006" "2015-03-07 15:07:01" "03139" "-" "myoclonus epilepsy with ataxia, progressive" "612437" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:51:33" "04219" "DFNA-65" "deafness, autosomal dominant, type 65 (DFNA-65)" "616044" "" "" "" "00006" "2015-03-07 14:59:25" "" "" "05086" "HL" "hearing loss (HL)" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05315" "epilepsy, Rolandic" "epilepsy, Rolandic" "" "" "" "" "00006" "2017-08-11 13:02:50" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{geneid}}" "{{diseaseid}}" "TBC1D24" "00097" "TBC1D24" "00139" "TBC1D24" "00283" "TBC1D24" "00284" "TBC1D24" "00285" "TBC1D24" "00286" "TBC1D24" "00294" "TBC1D24" "04219" ## Individuals ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{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}}" "00000370" "" "" "" "1" "00059" "9" "00059" "2013-02-11 13:19:03" "00008" "2013-02-25 11:43:21" "" "" "F" "-" "? (unknown)" "" "" "" "" "" "" "00004090" "" "" "" "1" "00081" "9" "00081" "2013-11-28 15:44:30" "00081" "2013-11-28 16:04:15" "" "" "" "" "" "" "0" "" "" "Arab-Israeli" "" "00004091" "" "" "" "1" "00081" "9" "00081" "2013-11-28 16:07:15" "" "" "{PMID:Falace A et al 2010:20727515}" "Falace A et al. Am J Hum Genet 2010; 87(3): 365-70." "" "" "" "" "0" "" "" "Italian" "" "00004092" "" "" "" "1" "00081" "9" "00081" "2013-11-28 17:05:06" "00006" "2018-08-22 22:37:26" "{PMID:Guven A 2013:23343562}" "" "" "" "" "" "0" "" "" "Turkish" "" "00004093" "" "" "" "1" "00081" "9" "00081" "2013-11-29 03:18:17" "00081" "2013-12-28 04:20:00" "{PMID:Campeau et al:24291220}" "1" "" "" "" "" "0" "" "" "" "" "00004094" "" "" "" "1" "00081" "9" "00081" "2013-11-29 03:24:34" "00081" "2013-12-28 04:19:59" "{PMID:Campeau et al:24291220}" "2a" "" "" "" "" "0" "" "" "" "" "00004095" "" "" "" "1" "00081" "9" "00081" "2013-11-29 03:27:07" "00081" "2013-12-28 04:19:58" "{PMID:Campeau et al:24291220}" "3" "" "" "" "" "0" "" "" "" "" "00004096" "" "" "" "1" "00081" "9" "00081" "2013-11-29 03:33:16" "00081" "2013-12-28 04:20:07" "{PMID:Campeau et al:24291220}" "2b" "" "" "" "" "0" "" "" "" "" "00004097" "" "" "" "1" "00081" "9" "00081" "2013-11-29 03:35:32" "00081" "2013-12-28 04:20:13" "{PMID:Campeau et al:24291220}" "4" "" "" "" "" "0" "" "" "" "" "00004098" "" "" "" "1" "00081" "9" "00081" "2013-11-29 03:38:19" "00081" "2013-12-28 04:20:13" "{PMID:Campeau et al:24291220}" "5a" "" "" "" "" "0" "" "" "" "" "00004099" "" "" "" "1" "00081" "9" "00081" "2013-11-29 03:38:28" "00081" "2013-12-28 04:20:15" "{PMID:Campeau et al:24291220}" "5b" "" "" "" "" "0" "" "" "" "" "00004100" "" "" "" "1" "00081" "9" "00081" "2013-11-29 03:38:36" "00081" "2013-12-28 04:20:19" "{PMID:Campeau et al:24291220}" "6" "" "" "" "" "0" "" "" "" "" "00004101" "" "" "" "1" "00081" "9" "00081" "2013-11-29 03:38:45" "00081" "2013-12-28 04:20:25" "{PMID:Campeau et al:24291220}" "7" "" "" "" "" "0" "" "" "" "" "00004102" "" "" "" "1" "00081" "9" "00081" "2013-11-29 03:38:58" "00081" "2013-12-28 04:20:27" "{PMID:Campeau et al:24291220}" "8" "" "" "" "" "0" "" "" "" "" "00004103" "" "" "" "1" "00081" "9" "00081" "2013-11-29 03:39:08" "00081" "2013-12-28 04:20:28" "{PMID:Campeau et al:24291220}" "9" "" "" "" "" "0" "" "" "" "" "00004158" "" "" "" "1" "00081" "9" "00081" "2014-01-08 19:36:37" "" "" "{PMID:Rehman et al., 2014:24387994}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00004159" "" "" "" "1" "00081" "9" "00081" "2014-01-08 19:42:00" "" "" "{PMID:Rehman et al., 2014:24387994}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00016188" "" "" "" "13" "00670" "9" "00670" "2014-02-27 22:59:50" "00006" "2018-09-05 21:11:48" "{PMID:Azaiez 2014:24729539}" "4-generation family, 13 affecteds (5F, 8M)" "F;M" "no" "United States" "" "0" "" "" "Caucasian" "24729539-Fam" "00016189" "" "" "" "11" "00671" "9" "00671" "2014-02-28 08:23:47" "00006" "2018-09-05 21:19:17" "{PMID:Zhang 2014:24729547}" "4-generation family, 11 affected (5F, 6M)" "F;M" "no" "China" "" "0" "" "" "Chinese" "" "00016322" "" "" "" "1" "00681" "9" "00681" "2014-03-12 13:37:22" "00006" "2014-03-14 16:24:36" "" "" "M" "no" "Italy" "" "0" "" "" "" "" "00017865" "" "" "" "1" "00081" "9" "00081" "2014-07-09 21:29:32" "" "" "" "" "M" "no" "Australia" "" "0" "" "" "" "" "00025006" "" "" "" "1" "00081" "9" "00081" "2014-11-30 23:47:49" "" "" "{PMID:Muona et al:25401298}" "" "F" "?" "Afghanistan" "" "0" "" "" "" "" "00059050" "" "" "" "3" "01542" "9" "01542" "2016-02-19 02:53:23" "00081" "2016-02-19 03:09:28" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "" "" "no" "Israel" "" "0" "" "" "Arab" "" "00116809" "" "" "" "1" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:03:09" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_114:0/1:CONTROL" "00116855" "" "" "" "1" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:03:09" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_20:0/1:CONTROL" "00116858" "" "" "" "1" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:03:09" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_204:0/1:CONTROL" "00116891" "" "" "" "1" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:03:09" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_285:0/1:CONTROL" "00116901" "" "" "" "1" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:03:09" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_307:0/1:CONTROL" "00116970" "" "" "" "1" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:03:09" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_478:0/1:CONTROL" "00116979" "" "" "" "1" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:03:09" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_495:0/1:CONTROL" "00117012" "" "" "" "1" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:03:09" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_561:0/1:CONTROL" "00117013" "" "" "" "1" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:03:09" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_562:0/1:CONTROL" "00117019" "" "" "" "1" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:03:09" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_569:0/1:TYPICAL_RE" "00117049" "" "" "" "1" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:03:09" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_619:0/1:TYPICAL_RE" "00117056" "" "" "" "1" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:03:09" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_63:0/1:CONTROL" "00163777" "" "" "" "1" "02393" "9" "02393" "2018-04-11 09:13:28" "00081" "2018-04-11 09:32:39" "" "" "M" "yes" "" "" "0" "" "" "" "" "00208756" "" "" "" "1" "01164" "9" "01164" "2018-12-14 14:03:32" "00006" "2019-02-24 22:10:13" "" "" "F" "" "Germany" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 35 "{{individualid}}" "{{diseaseid}}" "00004090" "00285" "00004091" "00097" "00004092" "00284" "00004093" "00286" "00004094" "00286" "00004095" "00286" "00004096" "00286" "00004097" "00286" "00004098" "00286" "00004099" "00286" "00004100" "00286" "00004101" "00286" "00004102" "00286" "00004103" "00286" "00004158" "00294" "00004159" "00294" "00016188" "05086" "00016189" "00350" "00016322" "00344" "00017865" "00286" "00025006" "03139" "00059050" "00294" "00116809" "00000" "00116855" "00000" "00116858" "00000" "00116891" "00000" "00116901" "00000" "00116970" "00000" "00116979" "00000" "00117012" "00000" "00117013" "00000" "00117019" "05315" "00117049" "05315" "00117056" "00000" "00163777" "00294" ## Phenotypes ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Pancreas/Insufficiency}}" "{{Phenotype/Scalp/Defects}}" "{{Phenotype/Anorectum/Anomalies}}" "{{Phenotype/Genitals/Malformations}}" "{{Phenotype/Hypothyroidism}}" "{{Phenotype/Length/Stature}}" "{{Phenotype/Malformations/Other}}" "{{Phenotype/Biochem_param}}" "{{Phenotype/enzyme_act}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Head/Microcephaly}}" "{{Phenotype/Heart/Defects}}" "{{Phenotype/Teeth/Oligodontia}}" "{{Phenotype/Brain/Corpus_Callosum/Agenesis}}" "{{Phenotype/Behavior/Abnormality}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Birth/OFC_at_birth_SDS}}" "{{Phenotype/Birth/Weight}}" "{{Phenotype/Brain_MRI}}" "{{Phenotype/Choanal_stenosis}}" "{{Phenotype/Bone/Age}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Development/Speech/Delayed}}" "{{Phenotype/Elbow/Dislocated}}" "{{Phenotype/Extremities/Brachydactyly}}" "{{Phenotype/Extremities/Epiphyses/Cone_shaped}}" "{{Phenotype/Extremities/Nails/Small}}" "{{Phenotype/Extremities/Phalanges/Distal/Absent_5th}}" "{{Phenotype/Extremities/Phalanges/Distal/Prominent}}" "{{Phenotype/Extremities/Phalanges/Hypoplasia}}" "{{Phenotype/Extremities/Joints/Interphalangeal/Prominent}}" "{{Phenotype/Facial/Ears/Abnormal}}" "{{Phenotype/Facial/Ears/Tags}}" "{{Phenotype/Facial/Mouth/Wide}}" "{{Phenotype/Facial/Nose/Bridge}}" "{{Phenotype/Facial/Nose/Anteverted}}" "{{Phenotype/Facial/Philtrum/Length}}" "{{Phenotype/Facial/Philtrum/Width}}" "{{Phenotype/Facial/Ptosis}}" "{{Phenotype/Facial/Eyebrows/Density}}" "{{Phenotype/Feeding/Problems}}" "{{Phenotype/Feeding/Problems/Duration}}" "{{Phenotype/Feeding/Problems/Start}}" "{{Phenotype/Infections/Recurrent}}" "{{Phenotype/Growth}}" "{{Phenotype/Growth/Height_SDS}}" "{{Phenotype/Hair/Scalp}}" "{{Phenotype/Hearing/Other}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Hypertrichosis}}" "{{Phenotype/Hypotonia/Muscular/Generalized}}" "{{Phenotype/Hernia/Inguinal}}" "{{Phenotype/Intestinal/GastroEsophoegal_Reflux}}" "{{Phenotype/Intestinal/Stenosis_Pyloric}}" "{{Phenotype/Joint/Laxity}}" "{{Phenotype/Malformations/Cardiac}}" "{{Phenotype/Mouth/Cleft_palate}}" "{{Phenotype/Intestine/Abnormality}}" "{{Phenotype/Kidney/Anomaly}}" "{{Phenotype/Facial/Lacrimal_Duct/Abnormality}}" "{{Phenotype/Pectus_excavatum}}" "{{Phenotype/Scoliosis}}" "{{Phenotype/Seizures}}" "{{Phenotype/Seizures/Age/Onset}}" "{{Phenotype/Seizures/Frequency}}" "{{Phenotype/Seizures/Type}}" "{{Phenotype/Skin/Cutis_marmorata}}" "{{Phenotype/Skin/Eczema}}" "{{Phenotype/Skin/Wrinkling}}" "{{Phenotype/Patella/Small}}" "{{Phenotype/Vision/Astigmatism}}" "{{Phenotype/Vision/Coloboma}}" "{{Phenotype/Vision/Other}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{Phenotype/Teeth/Anomalies}}" "{{Phenotype/Development/Speech}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Examined/Last}}" "{{Phenotype/Teeth}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Severity_score}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Diagnosis/Original}}" "{{Phenotype/Face/Shape}}" "{{Phenotype/Hemihypertrophy/HPO_0001528}}" "{{Phenotype/Intrauterine_growth_retardation/HPO/0001511}}" "{{Phenotype/Adrenal_hypoplasia/HPO_0000835}}" "{{Phenotype/Hypercalciuria/HPO_0002150}}" "{{Phenotype/Facial/Frontal_bossing/HPO_0002007}}" "{{Phenotype/Facial/Nose}}" "{{Phenotype/Arms_short/HPO_0009824}}" "{{Phenotype/Limbs_short/HPO_0006385}}" "{{Phenotype/Craniosynostosis/HPO_1363}}" "{{Phenotype/Osteopenia/HPO_0000938}}" "{{Phenotype/Epiphyses_smal/HPO_0010585}}" "{{Phenotype/Metaphyses_irregular/HPO_0003025}}" "{{Phenotype/Macrosomia/HPO_0001520}}" "{{Phenotype/Macroglossia/HPO_0000158}}" "{{Phenotype/Abdominal_wall_defect/HPO_0010866}}" "{{Phenotype/Hypoglycemia/HPO_0001943}}" "{{Phenotype/Tumor}}" "{{Phenotype/Karyotype}}" "{{Phenotype/Organomegaly}}" "{{Phenotype/Heart/Abnormality}}" "{{Phenotype/Eyelid/Naevus_flammeus/HPO_0010733}}" "{{Phenotype/Fever_episodic/HPO_0001954}}" "{{Phenotype/Dehydration/HPO_0001944}}" "{{Phenotype/Cyanosis/HPO_0000961}}" "{{Phenotype/Swallowing_poor/HPO_0002015}}" "{{Phenotype/Camptodactyly/HPO_0012385}}" "{{Phenotype/Cheeks_full/HPO_0000293}}" "{{Phenotype/Foot_abnormality/HPO_0001760}}" "{{Phenotype/Palate_high/HPO_0000218}}" "{{Phenotype/Sweating/Cold_induced}}" "{{Phenotype/Contractures/Joints_large/HPO_0005781}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Neuropathy_peripheral/HPO_0009830}}" "{{Phenotype/Tumor/IHC}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Family/Criteria}}" "{{Phenotype/Family/History}}" "{{Phenotype/BleedingScore}}" "{{Phenotype/BleedingScore/Tool}}" "{{Phenotype/Sub_type}}" "{{Phenotype/Iron/Hepatic_elevated/HPO_0012465}}" "{{Phenotype/Hand/Small/HPO_0200055}}" "{{Phenotype/Hypermobility}}" "{{Phenotype/Obesity/HPO_0001513}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Puberty}}" "{{Phenotype/AmnioticFluid/Abnormality/HPO_0001560}}" "{{Phenotype/Placentomegaly}}" "{{Phenotype/Prenatal}}" "{{Phenotype/Birth/Length}}" "{{Phenotype/Hirsutism/Forehead/HPO_0011335}}" "{{Phenotype/Blepharophimosis/HPO_0000581}}" "{{Phenotype/Facial/Lips}}" "{{Phenotype/Facial/Micrognathia/HPO_0000347}}" "{{Phenotype/Neck/Webbed/HPO_0000465}}" "{{Phenotype/Laryngomalacia/HPO_0001601}}" "{{Phenotype/Thorax/Bell_shaped/HPO_0001591}}" "{{Phenotype/Ribs/Coat_hanger/HPO_0006665}}" "{{Phenotype/Diastasis_recti/HPO_0001540}}" "{{Phenotype/Hip/Coxa_valga/HPO_0002673}}" "{{Phenotype/Orbits/Shallow/HPO_0000586}}" "{{Phenotype/Ossification/Ectopic/HPO_0011986}}" "{{Phenotype/Hair/Alopecia}}" "{{Phenotype/Eye/Chorioretinopathy/HPO_0001145}}" "{{Phenotype/Eye/Eyelashes}}" "{{Phenotype/Kidney/Disease}}" "{{Phenotype/Cysts}}" "{{Phenotype/Aneurysm}}" "{{Phenotype/Hypertension/HPO_0000822}}" "{{Phenotype/Hematuria/HPO_0000790}}" "{{Phenotype/Nephrolithiasis/HPO_0000787}}" "{{Phenotype/Disease/Status}}" "{{Phenotype/Kidney/Size}}" "{{Phenotype/Dilatation}}" "{{Phenotype/Sleep}}" "{{Phenotype/Eye/Pupil}}" "{{Phenotype/Umbilicus}}" "{{Phenotype/Eye}}" "{{Phenotype/Creatinine/Level}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Protein/F8_Ag}}" "{{Phenotype/Protein/F8_C/Stage1}}" "{{Phenotype/Protein/F8_C/Stage2}}" "{{Phenotype/Protein/FAssay_ratio}}" "{{Phenotype/Immunology/Auto_antibodies}}" "{{Phenotype/Severity}}" "{{Phenotype/Abnormality}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Inclusion}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/Lens/Cataract}}" "{{Phenotype/Head/Fontanel}}" "{{Phenotype/Eye/Ball}}" "{{Phenotype/Fistula}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/BCells}}" "{{Phenotype/BCells_surf_Ig}}" "{{Phenotype/CD19}}" "{{Phenotype/CD20}}" "{{Phenotype/Immunoglobulin/IgA}}" "{{Phenotype/Immunoglobulin/IgE}}" "{{Phenotype/Immunoglobulin/IgG}}" "{{Phenotype/Immunoglobulin/IgG/IgG1}}" "{{Phenotype/Immunoglobulin/IgG/IgG2}}" "{{Phenotype/Immunoglobulin/IgG/IgG3}}" "{{Phenotype/Immunoglobulin/IgG/IgG4}}" "{{Phenotype/Immunoglobulin/IgM}}" "{{Phenotype/Enzyme/Kinase}}" "{{Phenotype/CD3}}" "{{Phenotype/CD4}}" "{{Phenotype/CD8}}" "{{Phenotype/Calcification}}" "{{Phenotype/Ion_Homeostasis}}" "{{Phenotype/Hormones}}" "{{Phenotype/Vitamin}}" "{{Phenotype/Protein/Multimer_profile}}" "{{Phenotype/DTI_Tractography}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Growth/Retardation/Postnatal/HPO_0008897}}" "{{Phenotype/Asymmetry/Body}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Reproduction/Abnormal/Physiology}}" "{{Phenotype/Testis/Abnormal}}" "{{Phenotype/Eye/Movement}}" "{{Phenotype/Skin}}" "{{Phenotype/Finger_Toe/Abnormal}}" "{{Phenotype/Urine}}" "{{Phenotype/Hair/Pigmentation}}" "{{Phenotype/Histology}}" "{{Phenotype/Diagnosis/Criteria}}" "0000014935" "00344" "00016322" "00681" "9" "00006" "2014-03-14 16:25:15" "" "" "Unknown" "" "diagnosis: epileptic encephalopathy and pervasive developmental disorder" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016224" "00286" "00017865" "00081" "9" "00081" "2014-07-09 21:32:50" "" "" "Unknown" "" "DOORS syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021126" "03139" "00025006" "00081" "9" "00081" "2014-11-30 23:48:24" "" "" "Familial, autosomal recessive" "" "Onset with tonic seizures at 36 hours. Developmental delay with later regression. Myoclonus noted from 8 months. TCS from 3.5 years. Ataxia, spasticity, supranuclear gaze palsy. Visual decline. Initially regarded as an epileptic encephalopathy but florid PME pattern apparent by age 9." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092291" "05315" "00117019" "02192" "9" "00006" "2017-08-03 15:16:01" "" "" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092314" "05315" "00117049" "02192" "9" "00006" "2017-08-03 15:16:01" "" "" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128900" "00294" "00163777" "02393" "9" "02393" "2018-04-11 09:14:32" "00006" "2018-04-15 11:02:45" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "congenital" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000142765" "05086" "00016188" "00006" "9" "00006" "2018-09-05 21:13:13" "00006" "2018-09-05 21:13:58" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "DFNA-65" "progressive autosomal dominant non-syndromic hearing loss (ADNSHL)" "" "" "" "" "" "" "" "" "" "" "0000142766" "00350" "00016189" "00006" "9" "00006" "2018-09-05 21:22:34" "" "" "Familial, autosomal dominant" "" "nonsyndromic, bilateral, slowly progressive hearing impairment, starting mildly in high frequencies; age onset late 20s, hearing impairment gradually progressed to all frequencies later, eventually reached severe-to-profound in seventh decade; absent or abnormal otoacoustic emission, no evidence of vestibular dysfunction, no inner ear malformation observed by CT scanning" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "DFNA-65" "hearing impairment" "" "" "" "" "" "" "" "" "" "" "0000157374" "00198" "00208756" "01164" "9" "01164" "2018-12-14 14:03:32" "00006" "2019-02-24 22:35:08" "Unknown" "" "HP:0002069 (Generalized tonic-clonic seizures); HP:0002121 (Absence seizures)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000391" "00000370" "1" "00059" "00059" "2013-02-11 13:19:42" "" "" "SEQ-NG" "DNA" "" "" "0000004012" "00004090" "1" "00081" "00081" "2013-11-28 15:45:23" "" "" "SEQ" "DNA" "" "" "0000004013" "00004091" "1" "00081" "00081" "2013-11-28 16:08:12" "" "" "SEQ" "DNA" "" "" "0000004014" "00004092" "1" "00081" "00081" "2013-11-28 17:06:16" "" "" "SEQ" "DNA" "" "" "0000004015" "00004093" "1" "00081" "00081" "2013-11-29 03:19:40" "" "" "SEQ" "DNA" "" "" "0000004016" "00004094" "1" "00081" "00081" "2013-11-29 03:25:10" "" "" "SEQ" "DNA" "" "" "0000004017" "00004095" "1" "00081" "00081" "2013-11-29 03:27:28" "" "" "SEQ" "DNA" "" "" "0000004018" "00004096" "1" "00081" "00081" "2013-11-29 03:33:42" "" "" "SEQ" "DNA" "" "" "0000004019" "00004097" "1" "00081" "00081" "2013-11-29 03:36:02" "" "" "SEQ" "DNA" "" "" "0000004020" "00004098" "1" "00081" "00081" "2013-11-29 03:40:03" "" "" "SEQ" "DNA" "" "" "0000004021" "00004099" "1" "00081" "00081" "2013-11-29 03:40:09" "" "" "SEQ" "DNA" "" "" "0000004022" "00004100" "1" "00081" "00081" "2013-11-29 03:40:15" "" "" "SEQ" "DNA" "" "" "0000004023" "00004101" "1" "00081" "00081" "2013-11-29 03:40:24" "" "" "SEQ" "DNA" "" "" "0000004024" "00004102" "1" "00081" "00081" "2013-11-29 03:40:27" "" "" "SEQ" "DNA" "" "" "0000004025" "00004103" "1" "00081" "00081" "2013-11-29 03:40:35" "" "" "SEQ" "DNA" "" "" "0000004086" "00004158" "1" "00081" "00081" "2014-01-08 19:37:16" "" "" "SEQ" "DNA" "" "" "0000004087" "00004159" "1" "00081" "00081" "2014-01-08 19:42:23" "" "" "SEQ" "DNA" "" "" "0000016107" "00016188" "1" "00670" "00670" "2014-02-27 23:02:16" "" "" "SEQ" "DNA" "" "" "0000016251" "00016322" "1" "00681" "00681" "2014-03-12 13:37:40" "00006" "2014-03-14 16:32:42" "SEQ;SEQ-NG-I" "DNA" "" "" "0000017846" "00017865" "1" "00081" "00081" "2014-07-09 21:30:10" "" "" "SEQ" "DNA" "" "" "0000025008" "00025006" "1" "00081" "00081" "2014-11-30 23:49:15" "" "" "SEQ-NG" "DNA" "" "" "0000059016" "00059050" "1" "01542" "01542" "2016-02-19 02:54:44" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000117277" "00116809" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117323" "00116855" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117326" "00116858" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117359" "00116891" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117369" "00116901" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117438" "00116970" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117447" "00116979" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117480" "00117012" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117481" "00117013" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117491" "00117056" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117502" "00117019" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117525" "00117049" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000164640" "00163777" "1" "02393" "02393" "2018-04-11 09:15:10" "" "" "SEQ-NG" "DNA" "blood" "" "0000181308" "00016189" "1" "00006" "00006" "2018-09-05 21:23:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000209805" "00208756" "1" "01164" "01164" "2018-12-14 14:03:32" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{geneid}}" "0000004012" "TBC1D24" "0000004013" "TBC1D24" "0000004014" "TBC1D24" "0000004015" "TBC1D24" "0000004016" "TBC1D24" "0000004017" "TBC1D24" "0000004018" "TBC1D24" "0000004019" "TBC1D24" "0000004020" "TBC1D24" "0000004021" "TBC1D24" "0000004022" "TBC1D24" "0000004023" "TBC1D24" "0000004024" "TBC1D24" "0000004025" "TBC1D24" "0000004086" "TBC1D24" "0000004087" "TBC1D24" "0000016107" "TBC1D24" "0000016251" "GPR98" "0000016251" "KCNQ2" "0000016251" "TBC1D24" "0000017846" "TBC1D24" "0000181308" "TBC1D24" ## 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 = 145 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{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}}" "0000017084" "21" "75" "16" "2546617" "2546617" "subst" "0" "0" "00059" "9" "00059" "2013-02-11 13:50:09" "00008" "2013-02-25 11:44:43" "TBC1D24_000002" "g.2546617C>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.2496616C>A" "" "0000017085" "11" "75" "16" "2546835" "2546835" "subst" "0" "0" "00059" "9" "00059" "2013-02-11 13:51:03" "00008" "2013-02-25 11:35:34" "TBC1D24_000001" "g.2546835T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.2496834T>C" "" "0000022913" "3" "99" "16" "2546900" "2546900" "subst" "0" "0" "00081" "9" "00081" "2013-11-28 15:52:10" "00081" "2013-11-28 16:13:24" "TBC1D24_000003" "g.2546900T>C" "" "{PMID:Corbett MA et al, 2010:20797691}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2496899T>C" "" "0000022914" "0" "55" "16" "2546588" "2546588" "subst" "0" "0" "00081" "9" "00081" "2013-11-28 16:09:51" "" "" "TBC1D24_000004" "g.2546588G>C" "" "{PMID:Falace A et al. 2010:20727515}" "" "" "" "Germline" "" "" "0" "" "" "g.2496587G>C" "" "0000022915" "0" "55" "16" "2550823" "2550823" "subst" "0" "0" "00081" "9" "00081" "2013-11-28 16:11:31" "" "" "TBC1D24_000005" "g.2550823C>T" "" "{PMID:Falace A et al. 2010:20727515}" "" "" "" "Germline" "" "" "0" "" "" "g.2500822C>T" "" "0000022916" "3" "99" "16" "2547714" "2547715" "del" "0" "0" "00081" "9" "00081" "2013-11-28 17:07:43" "00081" "2013-11-28 17:09:11" "TBC1D24_000006" "g.2547714_2547715delGT" "" "{PMID:Guven A et al. 2013:23343562}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2497713_2497714delGT" "" "0000022917" "21" "77" "16" "2546873" "2546873" "subst" "0" "0" "00081" "9" "00081" "2013-11-29 03:21:18" "00081" "2013-12-28 04:15:21" "TBC1D24_000007" "g.2546873C>T" "" "{PMID:Campeau et al:24291220}" "pcampeau" "" "" "Germline" "" "" "0" "" "" "g.2496872C>T" "" "0000022918" "11" "55" "16" "2546267" "2546267" "subst" "0" "0" "00081" "9" "00081" "2013-11-29 03:22:46" "00081" "2013-12-28 04:13:06" "TBC1D24_000008" "g.2546267C>T" "" "{PMID:Campeau et al:24291220}" "pcampeau" "" "" "Germline" "yes" "" "0" "" "" "g.2496266C>T" "" "0000022919" "3" "77" "16" "2546873" "2546873" "subst" "0" "0" "00081" "9" "00081" "2013-11-29 03:26:21" "00081" "2013-12-28 04:13:16" "TBC1D24_000007" "g.2546873C>T" "" "{PMID:Campeau et al:24291220}" "pcampeau" "" "" "Germline" "" "" "0" "" "" "g.2496872C>T" "" "0000022921" "21" "55" "16" "2548263" "2548263" "del" "0" "0" "00081" "9" "00081" "2013-11-29 03:29:25" "00081" "2013-12-28 04:13:36" "TBC1D24_000009" "g.2548263delT" "" "{PMID:Campeau et al:24291220}" "pcampeau" "" "" "Germline" "yes" "" "0" "" "" "g.2498262delT" "" "0000022922" "11" "75" "16" "2549426" "2549426" "subst" "0" "0" "00081" "9" "00081" "2013-11-29 03:31:06" "00081" "2013-12-28 04:13:41" "TBC1D24_000010" "g.2549426G>A" "" "{PMID:Campeau et al:24291220}" "pcampeau" "" "" "Germline" "" "" "0" "" "" "g.2499425G>A" "" "0000022923" "3" "55" "16" "2546873" "2546873" "subst" "0" "0" "00081" "9" "00081" "2013-11-29 03:34:36" "00081" "2013-12-28 04:13:22" "TBC1D24_000007" "g.2546873C>T" "" "{PMID:Campeau et al:24291220}" "pcampeau" "" "" "Germline" "" "" "0" "" "" "g.2496872C>T" "" "0000022924" "3" "55" "16" "2546873" "2546873" "subst" "0" "0" "00081" "9" "00081" "2013-11-29 03:37:00" "00081" "2013-12-28 04:13:23" "TBC1D24_000007" "g.2546873C>T" "" "{PMID:Campeau et al:24291220}" "pcampeau" "" "" "Germline" "" "" "0" "" "" "g.2496872C>T" "" "0000022925" "21" "55" "16" "2546207" "2546207" "subst" "0" "0" "00081" "9" "00081" "2013-11-29 03:50:25" "00081" "2014-07-09 21:25:16" "TBC1D24_000019" "g.2546207C>T" "" "{PMID:Campeau et al:24291220}" "pcampeau" "" "" "Germline" "" "" "0" "pcampeau" "" "g.2496206C>T" "" "0000022926" "21" "55" "16" "2546207" "2546207" "subst" "0" "0" "00081" "9" "00081" "2013-11-29 03:50:27" "00081" "2014-07-09 21:26:06" "TBC1D24_000019" "g.2546207C>T" "" "{PMID:Campeau et al:24291220}" "pcampeau" "" "" "Germline" "" "" "0" "pcampeau" "" "g.2496206C>T" "" "0000022927" "21" "55" "16" "2548263" "2548263" "del" "0" "0" "00081" "9" "00081" "2013-11-29 03:50:29" "00081" "2013-12-28 04:13:40" "TBC1D24_000009" "g.2548263delT" "" "{PMID:Campeau et al:24291220}" "pcampeau" "" "" "Germline" "" "" "0" "" "" "g.2498262delT" "" "0000022928" "3" "55" "16" "2546873" "2546873" "subst" "0" "0" "00081" "9" "00081" "2013-11-29 03:50:31" "00081" "2013-12-28 04:13:24" "TBC1D24_000007" "g.2546873C>T" "" "{PMID:Campeau et al:24291220}" "pcampeau" "" "" "Germline" "" "" "0" "" "" "g.2496872C>T" "" "0000022929" "3" "55" "16" "2546268" "2546268" "subst" "0" "0" "00081" "9" "00081" "2013-11-29 03:50:33" "00081" "2013-12-28 04:13:11" "TBC1D24_000012" "g.2546268G>T" "" "{PMID:Campeau et al:24291220}" "pcampeau" "" "" "Germline" "" "" "0" "" "" "g.2496267G>T" "" "0000022930" "21" "55" "16" "2546477" "2546477" "subst" "0" "0" "00081" "9" "00081" "2013-11-29 03:50:35" "00081" "2013-12-28 04:13:14" "TBC1D24_000013" "g.2546477G>A" "" "{PMID:Campeau et al:24291220}" "pcampeau" "" "" "Germline" "" "" "0" "" "" "g.2496476G>A" "" "0000022931" "11" "55" "16" "2546873" "2546873" "subst" "0" "0" "00081" "9" "00081" "2013-11-29 03:51:47" "00081" "2013-12-28 04:13:27" "TBC1D24_000007" "g.2546873C>T" "" "{PMID:Campeau et al:24291220}" "pcampeau" "" "" "Germline" "" "" "0" "" "" "g.2496872C>T" "" "0000022932" "11" "55" "16" "2546873" "2546873" "subst" "0" "0" "00081" "9" "00081" "2013-11-29 03:52:01" "00081" "2013-12-28 04:13:30" "TBC1D24_000007" "g.2546873C>T" "" "{PMID:Campeau et al:24291220}" "pcampeau" "" "" "Germline" "" "" "0" "" "" "g.2496872C>T" "" "0000022933" "11" "55" "16" "2548254" "2548254" "subst" "0" "0" "00081" "9" "00081" "2013-11-29 03:52:21" "00081" "2013-12-28 04:13:32" "TBC1D24_000014" "g.2548254G>T" "" "{PMID:Campeau et al:24291220}" "pcampeau" "" "" "Germline" "" "" "0" "" "" "g.2498253G>T" "" "0000022996" "0" "55" "16" "2546357" "2546357" "subst" "0" "0" "00081" "9" "00081" "2014-01-08 19:39:48" "00081" "2014-01-08 19:47:26" "TBC1D24_000015" "g.2546357G>T" "" "{PMID:Rehman et al., 2014:24387994}" "" "" "" "Germline" "" "" "0" "" "" "g.2496356G>T" "" "0000022997" "3" "55" "16" "2547027" "2547027" "subst" "0" "0" "00081" "9" "00081" "2014-01-08 19:45:49" "00081" "2014-01-08 19:48:03" "TBC1D24_000016" "g.2547027G>C" "" "{PMID:Rehman et al., 2014:24387994}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2497026G>C" "" "0000035784" "1" "75" "16" "2546682" "2546682" "subst" "0" "0" "00670" "9" "00670" "2014-02-27 23:30:02" "00006" "2018-09-05 21:15:52" "TBC1D24_000017" "g.2546682C>T" "" "{PMID:Azaiez 2014:24729539}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2496681C>T" "" "0000035993" "11" "55" "16" "2546790" "2546790" "subst" "0" "0.00109804" "00681" "9" "00681" "2014-03-12 13:41:34" "00081" "2014-03-12 13:47:46" "TBC1D24_000018" "g.2546790G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2496789G>A" "" "0000038051" "0" "00" "16" "2550426" "2550426" "dup" "0" "0" "00081" "9" "00081" "2014-07-09 21:31:27" "" "" "TBC1D24_000020" "g.2550426dup" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.2500425dup" "" "0000038052" "0" "00" "16" "2546462" "2546462" "subst" "0" "0" "00081" "9" "00081" "2014-07-09 21:31:55" "" "" "TBC1D24_000021" "g.2546462T>C" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.2496461T>C" "" "0000047851" "3" "77" "16" "2548334" "2548334" "subst" "0" "0" "00081" "9" "00081" "2014-11-30 23:53:03" "" "" "TBC1D24_000022" "g.2548334G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2498333G>T" "" "0000089815" "3" "90" "16" "2546343" "2546343" "subst" "0" "0" "01542" "9" "01542" "2016-02-19 02:58:12" "00008" "2016-03-08 18:55:32" "TBC1D24_000023" "g.2546343G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2496342G>T" "" "0000188122" "0" "50" "16" "2546790" "2546790" "subst" "33" "0.00109804" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:06:12" "TBC1D24_000018" "g.2546790G>A" "4/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs200324356" "0" "" "" "g.2496789G>A" "" "0000188168" "0" "50" "16" "2546790" "2546790" "subst" "33" "0.00109804" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:06:12" "TBC1D24_000018" "g.2546790G>A" "4/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs200324356" "0" "" "" "g.2496789G>A" "" "0000188171" "0" "50" "16" "2550870" "2550870" "subst" "33" "0" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:06:12" "TBC1D24_000029" "g.2550870G>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.2500869G>A" "" "0000188204" "0" "50" "16" "2546327" "2546327" "subst" "33" "0.0000783208" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:06:12" "TBC1D24_000025" "g.2546327C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs373914077" "0" "" "" "g.2496326C>T" "" "0000188214" "0" "50" "16" "2546790" "2546790" "subst" "33" "0.00109804" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:06:12" "TBC1D24_000018" "g.2546790G>A" "4/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs200324356" "0" "" "" "g.2496789G>A" "" "0000188283" "0" "50" "16" "2546474" "2546474" "subst" "33" "0" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:06:12" "TBC1D24_000026" "g.2546474C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs372337277" "0" "" "" "g.2496473C>T" "" "0000188292" "0" "50" "16" "2548348" "2548348" "subst" "33" "0" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:06:12" "TBC1D24_000028" "g.2548348C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "stopgain variant" "Germline" "" "" "0" "" "" "g.2498347C>T" "" "0000188362" "0" "50" "16" "2546318" "2546318" "subst" "33" "0.00195771" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:06:12" "TBC1D24_000024" "g.2546318C>T" "2/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs202162520" "0" "" "" "g.2496317C>T" "" "0000188506" "0" "50" "16" "2546790" "2546790" "subst" "33" "0.00109804" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:06:12" "TBC1D24_000018" "g.2546790G>A" "4/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs200324356" "0" "" "" "g.2496789G>A" "" "0000188507" "0" "50" "16" "2546318" "2546318" "subst" "33" "0.00195771" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:06:12" "TBC1D24_000024" "g.2546318C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs202162520" "0" "" "" "g.2496317C>T" "" "0000188515" "0" "50" "16" "2546318" "2546318" "subst" "33" "0.00195771" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:06:12" "TBC1D24_000024" "g.2546318C>T" "2/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs202162520" "0" "" "" "g.2496317C>T" "" "0000188526" "0" "50" "16" "2546493" "2546493" "subst" "33" "0" "02192" "9" "00006" "2017-08-03 15:16:01" "00006" "2018-03-17 17:06:12" "TBC1D24_000027" "g.2546493G>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.2496492G>T" "" "0000256155" "0" "50" "16" "2546223" "2546223" "subst" "33" "0" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:14" "TBC1D24_000032" "g.2546223A>G" "" "" "" "TBC1D24:c.74A>G (K25R)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000311722" "0" "30" "16" "2546143" "2546143" "subst" "33" "0.00143426" "02325" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:50:44" "TBC1D24_000031" "g.2546143C>T" "" "" "" "TBC1D24:c.-7C>T" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000311723" "0" "30" "16" "2548257" "2548257" "subst" "33" "0.00141509" "02325" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:43" "TBC1D24_000048" "g.2548257C>T" "" "" "" "TBC1D24:c.1002C>T (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000311724" "0" "30" "16" "2550466" "2550466" "subst" "33" "0.00308993" "02325" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:05" "TBC1D24_000061" "g.2550466G>A" "" "" "" "TBC1D24:c.1500G>A (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000311725" "0" "30" "16" "2546353" "2546353" "subst" "33" "0.000779059" "02325" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:37" "TBC1D24_000034" "g.2546353G>A" "" "" "" "TBC1D24:c.204G>A (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000311726" "0" "30" "16" "2547034" "2547034" "subst" "33" "0.00828902" "02325" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:40" "TBC1D24_000042" "g.2547034C>G" "" "" "" "TBC1D24:c.885C>G (F295L)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314385" "0" "30" "16" "2546072" "2546072" "subst" "33" "0" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:50:44" "TBC1D24_000030" "g.2546072G>A" "" "" "" "TBC1D24:c.-78G>A" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314386" "0" "30" "16" "2550995" "2550995" "subst" "33" "0.0194269" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:05" "TBC1D24_000065" "g.2550995G>T" "" "" "" "TBC1D24:c.*36G>T" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314387" "0" "70" "16" "2548348" "2548348" "subst" "33" "0" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:03" "TBC1D24_000028" "g.2548348C>T" "" "" "" "TBC1D24:c.1093C>T (Q365*)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314388" "0" "10" "16" "2549352" "2549352" "subst" "33" "0.0198758" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:04" "TBC1D24_000052" "g.2549352C>T" "" "" "" "TBC1D24:c.1143-6C>T" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314389" "0" "70" "16" "2549385" "2549385" "subst" "33" "0" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:04" "TBC1D24_000053" "g.2549385G>T" "" "" "" "TBC1D24:c.1170G>T (E390D)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314390" "0" "30" "16" "2549788" "2549788" "subst" "33" "0.00630424" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:04" "TBC1D24_000055" "g.2549788C>T" "" "" "" "TBC1D24:c.1207-48C>T" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314391" "0" "30" "16" "2550240" "2550240" "subst" "33" "0" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:04" "TBC1D24_000056" "g.2550240C>T" "" "" "" "TBC1D24:c.1303-29C>T" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314392" "0" "30" "16" "2550292" "2550292" "subst" "33" "0.00424543" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:04" "TBC1D24_000057" "g.2550292C>T" "" "" "" "TBC1D24:c.1326C>T (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314393" "0" "30" "16" "2550466" "2550466" "subst" "33" "0.00308993" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:05" "TBC1D24_000061" "g.2550466G>A" "" "" "" "TBC1D24:c.1500G>A (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314394" "0" "30" "16" "2550475" "2550475" "subst" "33" "0.00964841" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:05" "TBC1D24_000062" "g.2550475C>T" "" "" "" "TBC1D24:c.1509C>T (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314395" "0" "30" "16" "2550785" "2550785" "subst" "33" "0.0182755" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:05" "TBC1D24_000064" "g.2550785C>T" "" "" "" "TBC1D24:c.1526-20C>T" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314396" "0" "30" "16" "2550781" "2550781" "subst" "33" "0.0204464" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:05" "TBC1D24_000063" "g.2550781G>A" "" "" "" "TBC1D24:c.1526-24G>A" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314397" "0" "30" "16" "2546341" "2546341" "subst" "33" "0" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:14" "TBC1D24_000033" "g.2546341C>T" "" "" "" "TBC1D24:c.192C>T (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314398" "0" "30" "16" "2546353" "2546353" "subst" "33" "0.000779059" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:37" "TBC1D24_000034" "g.2546353G>A" "" "" "" "TBC1D24:c.204G>A (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314399" "0" "30" "16" "2546790" "2546790" "subst" "33" "0.00109804" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:39" "TBC1D24_000018" "g.2546790G>A" "" "" "" "TBC1D24:c.641G>A (R214H)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314400" "0" "30" "16" "2546970" "2546970" "subst" "33" "0" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:40" "TBC1D24_000040" "g.2546970G>A" "" "" "" "TBC1D24:c.821G>A (R274K)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314401" "0" "10" "16" "2547034" "2547034" "subst" "33" "0.00828902" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:40" "TBC1D24_000042" "g.2547034C>G" "" "" "" "TBC1D24:c.885C>G (F295L)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314402" "0" "30" "16" "2547154" "2547154" "subst" "33" "0.00283953" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:41" "TBC1D24_000044" "g.2547154G>A" "" "" "" "TBC1D24:c.965+40G>A" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314403" "0" "30" "16" "2547121" "2547121" "subst" "33" "0" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:41" "TBC1D24_000043" "g.2547121C>T" "" "" "" "TBC1D24:c.965+7C>T" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314404" "0" "10" "16" "2547867" "2547867" "subst" "33" "0" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:42" "TBC1D24_000047" "g.2547867C>T" "" "" "" "TBC1D24:c.983+139C>T" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314405" "0" "30" "16" "2547803" "2547803" "subst" "33" "0" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:42" "TBC1D24_000045" "g.2547803T>G" "" "" "" "TBC1D24:c.983+75T>G" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000314406" "0" "30" "16" "2547823" "2547823" "subst" "33" "0" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:42" "TBC1D24_000046" "g.2547823G>A" "" "" "" "TBC1D24:c.983+95G>A" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000316246" "0" "30" "16" "2548257" "2548257" "subst" "33" "0.00141509" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:43" "TBC1D24_000048" "g.2548257C>T" "" "" "" "TBC1D24:c.1002C>T (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000316247" "0" "90" "16" "2548263" "2548263" "del" "33" "0.000163399" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:43" "TBC1D24_000049" "g.2548263del" "" "" "" "TBC1D24:c.1008delT (H336Qfs*12)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000316248" "0" "50" "16" "2548339" "2548339" "subst" "33" "0" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:03" "TBC1D24_000051" "g.2548339G>A" "" "" "" "TBC1D24:c.1084G>A (A362T)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000316249" "0" "10" "16" "2549352" "2549352" "subst" "33" "0.0198758" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:04" "TBC1D24_000052" "g.2549352C>T" "" "" "" "TBC1D24:c.1143-6C>T" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000316250" "0" "50" "16" "2549411" "2549411" "subst" "33" "0.00278308" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:04" "TBC1D24_000054" "g.2549411C>T" "" "" "" "TBC1D24:c.1196C>T (T399M)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000316251" "0" "30" "16" "2550292" "2550292" "subst" "33" "0.00424543" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:04" "TBC1D24_000057" "g.2550292C>T" "" "" "" "TBC1D24:c.1326C>T (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000316252" "0" "30" "16" "2550333" "2550333" "subst" "33" "0.000159008" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:04" "TBC1D24_000058" "g.2550333C>T" "" "" "" "TBC1D24:c.1367C>T (P456L)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000316253" "0" "50" "16" "2550377" "2550377" "subst" "33" "0.0000795925" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:04" "TBC1D24_000059" "g.2550377G>A" "" "" "" "TBC1D24:c.1411G>A (A471T)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000316254" "0" "50" "16" "2550393" "2550393" "subst" "33" "0.00302789" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:04" "TBC1D24_000060" "g.2550393C>A" "" "" "" "TBC1D24:c.1427C>A (A476D)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000316255" "0" "30" "16" "2550466" "2550466" "subst" "33" "0.00308993" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:05" "TBC1D24_000061" "g.2550466G>A" "" "" "" "TBC1D24:c.1500G>A (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000316256" "0" "30" "16" "2550475" "2550475" "subst" "33" "0.00964841" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:05" "TBC1D24_000062" "g.2550475C>T" "" "" "" "TBC1D24:c.1509C>T (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000316257" "0" "10" "16" "2550785" "2550785" "subst" "33" "0.0182755" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:05" "TBC1D24_000064" "g.2550785C>T" "" "" "" "TBC1D24:c.1526-20C>T" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000316258" "0" "30" "16" "2546356" "2546356" "subst" "33" "0.0596945" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:37" "TBC1D24_000035" "g.2546356T>C" "" "" "" "TBC1D24:c.207T>C (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000316259" "0" "30" "16" "2546695" "2546695" "subst" "33" "0" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:38" "TBC1D24_000037" "g.2546695G>A" "" "" "" "TBC1D24:c.546G>A (T182=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000316260" "0" "50" "16" "2546771" "2546788" "del" "33" "0" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:39" "TBC1D24_000038" "g.2546771_2546788del" "" "" "" "TBC1D24:c.622_639delGTCTATGCGGACTGGCAG (V208_Q213del)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000316261" "0" "30" "16" "2546851" "2546851" "subst" "33" "0.000314762" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:39" "TBC1D24_000039" "g.2546851G>A" "" "" "" "TBC1D24:c.702G>A (V234=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000316262" "0" "50" "16" "2547015" "2547015" "subst" "33" "0" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:40" "TBC1D24_000041" "g.2547015C>T" "" "" "" "TBC1D24:c.866C>T (A289V)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000316263" "0" "30" "16" "2547034" "2547034" "subst" "33" "0.00828902" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:40" "TBC1D24_000042" "g.2547034C>G" "" "" "" "TBC1D24:c.885C>G (F295L)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000324506" "0" "30" "16" "2546443" "2546443" "subst" "33" "0" "01804" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-01-20 01:19:30" "TBC1D24_000036" "g.2546443C>A" "" "" "" "TBC1D24:NM_001199107.1:c.294C>A, NM_020705.2:c.294C>A" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000324507" "0" "50" "16" "2548263" "2548263" "del" "33" "0.000163399" "01804" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-01-20 01:19:42" "TBC1D24_000049" "g.2548263del" "" "" "" "TBC1D24:NM_001199107.1:c.1008del, NM_020705.2:c.990del" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000324508" "0" "50" "16" "2548334" "2548334" "subst" "33" "0" "01804" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-01-20 01:19:43" "TBC1D24_000050" "g.2548334G>A" "" "" "" "TBC1D24:NM_001199107.1:c.1079G>A, NM_020705.2:c.1061G>A" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000337630" "0" "30" "16" "2551015" "2551015" "subst" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:05" "TBC1D24_000069" "g.2551015C>T" "" "" "" "TBC1D24:NM_001199107.1:c.*56C>T (?)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000342253" "0" "10" "16" "2546790" "2546790" "subst" "33" "0.00109804" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:39" "TBC1D24_000018" "g.2546790G>A" "" "" "" "TBC1D24:NM_001199107.1:c.641G>A (Arg214His)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000342716" "0" "50" "16" "2548334" "2548334" "subst" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:08:03" "TBC1D24_000050" "g.2548334G>A" "" "" "" "TBC1D24:NM_020705.2:c.1061G>A (Arg354His)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000344471" "0" "30" "16" "2546171" "2546171" "subst" "33" "0.0000790139" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:50:44" "TBC1D24_000066" "g.2546171T>C" "" "" "" "TBC1D24:NM_001199107.1:c.22T>C (Cys8Arg)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000348785" "0" "90" "16" "2546684" "2546684" "dup" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:38" "TBC1D24_000068" "g.2546684dup" "" "" "" "TBC1D24:NM_020705.2:c.535dup (Ser179fs)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000349596" "0" "50" "16" "2546346" "2546346" "subst" "33" "0.0000779788" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 18:39:14" "TBC1D24_000067" "g.2546346C>T" "" "" "" "TBC1D24:NM_001199107.1:c.197C-T (Thr66Met)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000368213" "3" "70" "16" "2546343" "2546343" "subst" "0" "0" "02393" "9" "02393" "2018-04-11 09:21:45" "00081" "2018-08-22 18:30:36" "TBC1D24_000023" "g.2546343G>T" "0/220 chromosomes" "" "" "" "" "Germline" "yes" "rs878853232" "0" "" "" "g.2496342G>T" "{CVvar:000225038.1}" "0000398607" "0" "70" "16" "2546768" "2546768" "subst" "0" "0" "02550" "9" "02550" "2018-08-13 14:59:18" "00081" "2018-08-22 18:27:56" "TBC1D24_000080" "g.2546768C>T" "" "" "" "c.619C>T" "" "Somatic" "yes" "" "0" "" "" "" "" "0000398608" "0" "70" "16" "2547015" "2547015" "subst" "0" "0" "02550" "9" "02550" "2018-08-13 15:01:12" "00081" "2018-08-20 16:46:10" "TBC1D24_000041" "g.2547015C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401452" "11" "70" "16" "2546265" "2546265" "subst" "0" "0" "02550" "9" "02550" "2018-08-19 13:03:10" "00081" "2018-08-22 18:28:21" "TBC1D24_000070" "g.2546265C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401453" "21" "70" "16" "2550465" "2550465" "subst" "0" "0" "02550" "9" "02550" "2018-08-19 13:06:07" "00081" "2018-08-22 18:31:01" "TBC1D24_000084" "g.2550465C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401454" "0" "70" "16" "2546265" "2546265" "subst" "0" "0" "02550" "9" "02550" "2018-08-19 13:12:28" "00081" "2018-08-20 16:45:29" "TBC1D24_000070" "g.2546265C>T" "" "" "" "" "" "Somatic" "" "" "0" "" "" "" "" "0000401455" "0" "70" "16" "2550465" "2550465" "subst" "0" "0" "02550" "9" "02550" "2018-08-19 13:13:44" "00081" "2018-08-20 16:46:18" "TBC1D24_000084" "g.2550465C>T" "" "" "" "" "" "Somatic" "" "" "0" "" "" "" "" "0000401456" "11" "70" "16" "2549368" "2549368" "subst" "0" "0" "02550" "9" "02550" "2018-08-19 13:38:38" "00081" "2018-08-22 18:30:58" "TBC1D24_000083" "g.2549368C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401457" "21" "70" "16" "2550465" "2550465" "subst" "0" "0" "02550" "9" "02550" "2018-08-19 13:39:16" "00081" "2018-08-22 18:31:02" "TBC1D24_000084" "g.2550465C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401458" "21" "70" "16" "2550465" "2550465" "subst" "0" "0" "02550" "9" "02550" "2018-08-19 13:43:18" "00081" "2018-08-22 18:31:03" "TBC1D24_000084" "g.2550465C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401459" "11" "70" "16" "2546874" "2546874" "subst" "0" "0" "02550" "9" "02550" "2018-08-19 13:45:01" "00081" "2018-08-22 18:30:56" "TBC1D24_000082" "g.2546874G>A" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401460" "11" "70" "16" "2550483" "2550485" "del" "0" "0" "02550" "9" "02550" "2018-08-19 13:48:40" "00081" "2018-08-22 18:31:06" "TBC1D24_000085" "g.2550483_2550485del" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401461" "21" "70" "16" "2546265" "2546265" "subst" "0" "0" "02550" "9" "02550" "2018-08-19 13:49:18" "00081" "2018-08-22 18:30:32" "TBC1D24_000070" "g.2546265C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401462" "21" "70" "16" "2546265" "2546265" "subst" "0" "0" "02550" "9" "02550" "2018-08-19 13:53:31" "00081" "2018-08-20 16:45:32" "TBC1D24_000070" "g.2546265C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401463" "11" "70" "16" "2546390" "2546401" "del" "0" "0" "02550" "9" "02550" "2018-08-19 13:54:04" "00081" "2018-08-20 16:45:43" "TBC1D24_000075" "g.2546390_2546401del" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401464" "21" "70" "16" "2546553" "2546553" "subst" "0" "0" "02550" "9" "02550" "2018-08-19 13:58:10" "00081" "2018-08-22 18:30:47" "TBC1D24_000076" "g.2546553C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401465" "11" "70" "16" "2546606" "2546606" "subst" "0" "0" "02550" "9" "02550" "2018-08-19 13:58:56" "00081" "2018-08-22 18:30:54" "TBC1D24_000079" "g.2546606G>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401466" "11" "70" "16" "2546591" "2546591" "subst" "0" "0" "02550" "9" "02550" "2018-08-19 14:03:12" "00081" "2018-08-22 18:30:52" "TBC1D24_000078" "g.2546591G>A" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401467" "21" "70" "16" "2546580" "2546580" "subst" "0" "0" "02550" "9" "02550" "2018-08-19 14:03:52" "00081" "2018-08-22 18:30:51" "TBC1D24_000077" "g.2546580A>G" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401468" "11" "70" "16" "2546378" "2546389" "del" "0" "0" "02550" "9" "02550" "2018-08-19 14:07:38" "00081" "2018-08-22 18:30:43" "TBC1D24_000074" "g.2546378_2546389del" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401469" "21" "70" "16" "2549368" "2549368" "subst" "0" "0" "02550" "9" "02550" "2018-08-19 14:08:10" "00081" "2018-08-22 18:30:59" "TBC1D24_000083" "g.2549368C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401470" "21" "70" "16" "2546390" "2546401" "del" "0" "0" "02550" "9" "02550" "2018-08-20 03:59:26" "00081" "2018-08-22 18:30:45" "TBC1D24_000075" "g.2546390_2546401del" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401471" "10" "70" "16" "2546288" "2546288" "subst" "0" "0" "02550" "9" "02550" "2018-08-20 04:00:26" "00081" "2018-08-22 18:30:35" "TBC1D24_000072" "g.2546288A>G" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401472" "10" "70" "16" "2550823" "2550823" "subst" "0" "0" "02550" "9" "02550" "2018-08-20 04:13:29" "00081" "2018-08-22 18:31:08" "TBC1D24_000005" "g.2550823C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401473" "21" "70" "16" "2550465" "2550465" "subst" "0" "0" "02550" "9" "02550" "2018-08-20 04:14:00" "00081" "2018-08-22 18:31:05" "TBC1D24_000084" "g.2550465C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401474" "11" "70" "16" "2546268" "2546268" "subst" "0" "0" "02550" "9" "02550" "2018-08-20 04:49:17" "00081" "2018-08-22 18:30:33" "TBC1D24_000071" "g.2546268G>A" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401475" "21" "70" "16" "2546390" "2546401" "del" "0" "0" "02550" "9" "02550" "2018-08-20 04:50:09" "00081" "2018-08-22 18:30:46" "TBC1D24_000075" "g.2546390_2546401del" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401476" "21" "70" "16" "2546390" "2546401" "del" "0" "0" "02550" "9" "02550" "2018-08-20 04:53:02" "00081" "2018-08-20 16:45:48" "TBC1D24_000075" "g.2546390_2546401del" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401477" "11" "70" "16" "2550803" "2550803" "subst" "0" "0" "02550" "9" "02550" "2018-08-20 04:54:02" "00081" "2018-08-20 16:46:29" "TBC1D24_000086" "g.2550803A>C" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401478" "21" "70" "16" "2546553" "2546553" "subst" "0" "0" "02550" "9" "02550" "2018-08-20 04:57:47" "00081" "2018-08-22 18:30:50" "TBC1D24_000076" "g.2546553C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401479" "11" "70" "16" "2546828" "2546828" "subst" "0" "0" "02550" "9" "02550" "2018-08-20 04:58:34" "00081" "2018-08-22 18:30:55" "TBC1D24_000081" "g.2546828C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401481" "11" "70" "16" "2546265" "2546265" "subst" "0" "0" "02550" "9" "02550" "2018-08-20 05:05:26" "00081" "2018-08-20 16:45:33" "TBC1D24_000070" "g.2546265C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401483" "21" "70" "16" "2546390" "2546401" "del" "0" "0" "02550" "9" "02550" "2018-08-20 05:06:18" "00081" "2018-08-20 16:45:50" "TBC1D24_000075" "g.2546390_2546401del" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401484" "11" "70" "16" "2546390" "2546401" "del" "0" "0" "02550" "9" "02550" "2018-08-20 05:15:20" "00081" "2018-08-20 16:45:52" "TBC1D24_000075" "g.2546390_2546401del" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401485" "21" "70" "16" "2550465" "2550465" "subst" "0" "0" "02550" "9" "02550" "2018-08-20 05:15:59" "00081" "2018-08-20 16:46:24" "TBC1D24_000084" "g.2550465C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401486" "21" "70" "16" "2546265" "2546265" "subst" "0" "0" "02550" "9" "02550" "2018-08-20 05:18:35" "00081" "2018-08-20 16:45:35" "TBC1D24_000070" "g.2546265C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401487" "11" "70" "16" "2546390" "2546401" "del" "0" "0" "02550" "9" "02550" "2018-08-20 05:19:26" "00081" "2018-08-20 16:45:53" "TBC1D24_000075" "g.2546390_2546401del" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401488" "11" "70" "16" "2546300" "2546300" "subst" "0" "0" "02550" "9" "02550" "2018-08-20 05:22:00" "00081" "2018-08-20 16:45:40" "TBC1D24_000073" "g.2546300C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401490" "21" "70" "16" "2546390" "2546401" "del" "0" "0" "02550" "9" "02550" "2018-08-20 05:23:32" "00081" "2018-08-20 16:45:55" "TBC1D24_000075" "g.2546390_2546401del" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401491" "10" "70" "16" "2546768" "2546768" "subst" "0" "0" "02550" "9" "02550" "2018-08-20 07:12:25" "00081" "2018-08-20 16:46:05" "TBC1D24_000080" "g.2546768C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401492" "21" "70" "16" "2547015" "2547015" "subst" "0" "0" "02550" "9" "02550" "2018-08-20 07:13:11" "00081" "2018-08-20 16:46:12" "TBC1D24_000041" "g.2547015C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401493" "21" "70" "16" "2546265" "2546265" "subst" "0" "0" "02550" "9" "02550" "2018-08-20 07:16:11" "00081" "2018-08-20 16:45:36" "TBC1D24_000070" "g.2546265C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000401494" "11" "70" "16" "2550465" "2550465" "subst" "0" "0" "02550" "9" "02550" "2018-08-20 07:17:01" "00081" "2018-08-20 16:46:26" "TBC1D24_000084" "g.2550465C>T" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000403833" "11" "70" "16" "2546268" "2546268" "subst" "0" "0" "02550" "9" "02550" "2018-08-22 10:35:41" "00081" "2018-08-22 18:27:31" "TBC1D24_000071" "g.2546268G>A" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000403834" "21" "70" "16" "2546390" "2546401" "del" "0" "0" "02550" "9" "02550" "2018-08-22 10:36:47" "00081" "2018-08-22 18:27:38" "TBC1D24_000075" "g.2546390_2546401del" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000403835" "21" "70" "16" "2546390" "2546401" "del" "0" "0" "02550" "9" "02550" "2018-08-22 10:36:47" "00081" "2018-08-22 18:27:48" "TBC1D24_000075" "g.2546390_2546401del" "" "" "" "" "" "Somatic" "yes" "" "0" "" "" "" "" "0000404995" "1" "75" "16" "2546682" "2546682" "subst" "0" "0" "00671" "9" "00006" "2018-09-05 21:25:30" "" "" "TBC1D24_000017" "g.2546682C>T" "" "{PMID:Zhang 2014:24729547}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2496681C>T" "" "0000440023" "0" "50" "16" "2550957" "2550957" "subst" "0" "0" "01164" "9" "01164" "2018-12-14 14:03:32" "00006" "2019-02-24 22:41:00" "TBC1D24_000087" "g.2550957T>C" "" "" "" "" "not regarded causative for phenotype in this patient, AR and no second path variant detected in TBC1D24; co-occurrence with pathogenic variant in PRRT2 which segregates with phenotype in this family" "Germline" "" "" "0" "" "" "" "" ## 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. ## Count = 276 "{{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}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Haplotype}}" "{{VariantOnTranscript/SIFT}}" "{{VariantOnTranscript/PolyPhen/Score}}" "{{VariantOnTranscript/Classification}}" "{{VariantOnTranscript/Protein/Domain}}" "{{VariantOnTranscript/Protein/CodonNr}}" "{{VariantOnTranscript/Exon_old}}" "{{VariantOnTranscript/Variant/Type}}" "{{VariantOnTranscript/Consequence/Predicted}}" "{{VariantOnTranscript/Screen/Method}}" "{{VariantOnTranscript/DNA/Legacy}}" "{{VariantOnTranscript/Protein/Legacy}}" "{{VariantOnTranscript/Predict/MutationTaster}}" "{{VariantOnTranscript/Grantham}}" "{{VariantOnTranscript/Predict/AGVGD}}" "{{VariantOnTranscript/Codon_change}}" "{{VariantOnTranscript/VariO/DNA}}" "{{VariantOnTranscript/VariO/Protein}}" "{{VariantOnTranscript/VariO/RNA}}" "{{VariantOnTranscript/CpG}}" "{{VariantOnTranscript/Enzyme/Kinase_activity}}" "{{VariantOnTranscript/mRNA_level}}" "{{VariantOnTranscript/Protein_level}}" "{{VariantOnTranscript/Conservation}}" "{{VariantOnTranscript/Predict/Splice}}" "{{VariantOnTranscript/Protein/Stain}}" "{{VariantOnTranscript/Predict/CADD}}" "0000017084" "00001779" "75" "468" "0" "468" "0" "c.468C>A" "r.(?)" "p.(Cys156*)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017085" "00001779" "75" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Phe229Ser)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022913" "00023820" "55" "751" "0" "751" "0" "c.751T>C" "r.(?)" "p.(Phe251Leu)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022913" "00001779" "55" "751" "0" "751" "0" "c.751T>C" "r.(?)" "p.(Phe251Leu)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022914" "00023820" "55" "439" "0" "439" "0" "c.439G>C" "r.(?)" "p.(Asp147His)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022914" "00001779" "55" "439" "0" "439" "0" "c.439G>C" "r.(?)" "p.(Asp147His)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022915" "00023820" "55" "1526" "0" "1526" "0" "c.1526C>T" "r.(?)" "p.(Ala509Val)" "7" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022915" "00001779" "55" "1544" "0" "1544" "0" "c.1544C>T" "r.(?)" "p.(Ala515Val)" "8" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022916" "00001779" "55" "969" "0" "970" "0" "c.969_970delGT" "r.(?)" "p.(Ser324Thrfs*3)" "3" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022917" "00023820" "55" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022917" "00001779" "55" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022918" "00023820" "55" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40Cys)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022918" "00001779" "55" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40Cys)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022919" "00023820" "55" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022919" "00001779" "55" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022921" "00023820" "55" "990" "0" "990" "0" "c.990delT" "r.(?)" "p.(His330Glnfs*12)" "3" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022921" "00001779" "55" "1008" "0" "1008" "0" "c.1008delT" "r.(?)" "p.(His336Glnfs*12)" "4" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022922" "00023820" "55" "1188" "5" "1188" "5" "c.1188+5G>A" "r.spl" "p.?" "5" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022922" "00001779" "55" "1206" "5" "1206" "5" "c.1206+5G>A" "r.spl" "p.?" "5" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022923" "00023820" "55" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022923" "00001779" "55" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022924" "00023820" "55" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022924" "00001779" "55" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022925" "00023820" "55" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Gln20*)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022925" "00001779" "55" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Gln20*)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022926" "00023820" "55" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Gln20*)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022926" "00001779" "55" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Gln20*)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022927" "00023820" "55" "990" "0" "990" "0" "c.990delT" "r.(?)" "p.(His330Glnfs*12)" "3" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022927" "00001779" "55" "1008" "0" "1008" "0" "c.1008delT" "r.(?)" "p.(His336Glnfs*12)" "4" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022928" "00023820" "55" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022928" "00001779" "55" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022929" "00023820" "55" "119" "0" "119" "0" "c.119G>T" "r.(?)" "p.(Arg40Leu)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022929" "00001779" "55" "119" "0" "119" "0" "c.119G>T" "r.(?)" "p.(Arg40Leu)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022930" "00023820" "55" "328" "0" "328" "0" "c.328G>A" "r.(?)" "p.(Gly110Ser)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022930" "00001779" "55" "328" "0" "328" "0" "c.328G>A" "r.(?)" "p.(Gly110Ser)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022931" "00023820" "55" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022931" "00001779" "55" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022932" "00023820" "55" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022932" "00001779" "55" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022933" "00023820" "55" "981" "0" "981" "0" "c.981G>T" "r.(?)" "p.(Leu327Phe)" "3" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022933" "00001779" "55" "999" "0" "999" "0" "c.999G>T" "r.(?)" "p.(Leu333Phe)" "4" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022996" "00023820" "55" "208" "0" "208" "0" "c.208G>T" "r.(?)" "p.(Asp70Tyr)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022996" "00001779" "55" "208" "0" "208" "0" "c.208G>T" "r.(?)" "p.(Asp70Tyr)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022997" "00023820" "55" "878" "0" "878" "0" "c.878G>C" "r.(?)" "p.(Arg293Pro)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000022997" "00001779" "55" "878" "0" "878" "0" "c.878G>C" "r.(?)" "p.(Arg293Pro)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035784" "00001779" "75" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Ser178Leu)" "2" "" "" "" "" "" "likely pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035993" "00023820" "55" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038051" "00023820" "00" "1442" "0" "1442" "0" "c.1442dup" "r.(?)" "p.(His481Glnfs*71)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038051" "00001779" "00" "1460" "0" "1460" "0" "c.1460dup" "r.(?)" "p.(His487Glnfs*71)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038052" "00023820" "00" "313" "0" "313" "0" "c.313T>C" "r.(?)" "p.(Cys105Arg)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038052" "00001779" "00" "313" "0" "313" "0" "c.313T>C" "r.(?)" "p.(Cys105Arg)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000047851" "00001779" "00" "1079" "0" "1079" "0" "c.1079G>T" "r.(?)" "p.(Arg360Leu)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000089815" "00001779" "90" "194" "0" "194" "0" "c.194G>T" "r.(?)" "p.(Arg65Leu)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188122" "00023820" "00" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188122" "00001779" "00" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188168" "00023820" "00" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188168" "00001779" "00" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188171" "00023820" "00" "1573" "0" "1573" "0" "c.1573G>A" "r.(?)" "p.(Asp525Asn)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188171" "00001779" "00" "1591" "0" "1591" "0" "c.1591G>A" "r.(?)" "p.(Asp531Asn)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188204" "00023820" "00" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Arg60Trp)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188204" "00001779" "00" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Arg60Trp)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188214" "00023820" "00" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188214" "00001779" "00" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188283" "00023820" "00" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Cys)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188283" "00001779" "00" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Cys)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188292" "00023820" "00" "1075" "0" "1075" "0" "c.1075C>T" "r.(?)" "p.(Gln359*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188292" "00001779" "00" "1093" "0" "1093" "0" "c.1093C>T" "r.(?)" "p.(Gln365*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188362" "00023820" "00" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57Cys)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188362" "00001779" "00" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57Cys)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188506" "00023820" "00" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188506" "00001779" "00" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188507" "00023820" "00" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57Cys)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188507" "00001779" "00" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57Cys)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188515" "00023820" "00" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57Cys)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188515" "00001779" "00" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57Cys)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188526" "00023820" "00" "344" "0" "344" "0" "c.344G>T" "r.(?)" "p.(Arg115Leu)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188526" "00001779" "00" "344" "0" "344" "0" "c.344G>T" "r.(?)" "p.(Arg115Leu)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000256155" "00023820" "50" "74" "0" "74" "0" "c.74A>G" "r.(?)" "p.(Lys25Arg)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000256155" "00001779" "50" "74" "0" "74" "0" "c.74A>G" "r.(?)" "p.(Lys25Arg)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311722" "00023820" "30" "-7" "0" "-7" "0" "c.-7C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311722" "00001779" "30" "-7" "0" "-7" "0" "c.-7C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311723" "00023820" "30" "984" "0" "984" "0" "c.984C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311723" "00001779" "30" "1002" "0" "1002" "0" "c.1002C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311724" "00023820" "30" "1482" "0" "1482" "0" "c.1482G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311724" "00001779" "30" "1500" "0" "1500" "0" "c.1500G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311725" "00023820" "30" "204" "0" "204" "0" "c.204G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311725" "00001779" "30" "204" "0" "204" "0" "c.204G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311726" "00023820" "30" "885" "0" "885" "0" "c.885C>G" "r.(?)" "p.(Phe295Leu)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311726" "00001779" "30" "885" "0" "885" "0" "c.885C>G" "r.(?)" "p.(Phe295Leu)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314385" "00023820" "30" "-78" "0" "-78" "0" "c.-78G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314385" "00001779" "30" "-78" "0" "-78" "0" "c.-78G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314386" "00023820" "30" "1698" "0" "1698" "0" "c.*36G>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314386" "00001779" "30" "1716" "0" "1716" "0" "c.*36G>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314387" "00023820" "70" "1075" "0" "1075" "0" "c.1075C>T" "r.(?)" "p.(Gln359*)" "" "" "" "" "" "" "likely pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314387" "00001779" "70" "1093" "0" "1093" "0" "c.1093C>T" "r.(?)" "p.(Gln365*)" "" "" "" "" "" "" "likely pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314388" "00023820" "10" "1125" "-6" "1125" "-6" "c.1125-6C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314388" "00001779" "10" "1143" "-6" "1143" "-6" "c.1143-6C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314389" "00023820" "70" "1152" "0" "1152" "0" "c.1152G>T" "r.(?)" "p.(Glu384Asp)" "" "" "" "" "" "" "likely pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314389" "00001779" "70" "1170" "0" "1170" "0" "c.1170G>T" "r.(?)" "p.(Glu390Asp)" "" "" "" "" "" "" "likely pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314390" "00023820" "30" "1189" "-48" "1189" "-48" "c.1189-48C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314390" "00001779" "30" "1207" "-48" "1207" "-48" "c.1207-48C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314391" "00023820" "30" "1285" "-29" "1285" "-29" "c.1285-29C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314391" "00001779" "30" "1303" "-29" "1303" "-29" "c.1303-29C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314392" "00023820" "30" "1308" "0" "1308" "0" "c.1308C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314392" "00001779" "30" "1326" "0" "1326" "0" "c.1326C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314393" "00023820" "30" "1482" "0" "1482" "0" "c.1482G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314393" "00001779" "30" "1500" "0" "1500" "0" "c.1500G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314394" "00023820" "30" "1491" "0" "1491" "0" "c.1491C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314394" "00001779" "30" "1509" "0" "1509" "0" "c.1509C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314395" "00023820" "30" "1508" "-20" "1508" "-20" "c.1508-20C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314395" "00001779" "30" "1526" "-20" "1526" "-20" "c.1526-20C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314396" "00023820" "30" "1508" "-24" "1508" "-24" "c.1508-24G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314396" "00001779" "30" "1526" "-24" "1526" "-24" "c.1526-24G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314397" "00023820" "30" "192" "0" "192" "0" "c.192C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314397" "00001779" "30" "192" "0" "192" "0" "c.192C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314398" "00023820" "30" "204" "0" "204" "0" "c.204G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314398" "00001779" "30" "204" "0" "204" "0" "c.204G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314399" "00023820" "30" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314399" "00001779" "30" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314400" "00023820" "30" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Lys)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314400" "00001779" "30" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Lys)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314401" "00023820" "10" "885" "0" "885" "0" "c.885C>G" "r.(?)" "p.(Phe295Leu)" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314401" "00001779" "10" "885" "0" "885" "0" "c.885C>G" "r.(?)" "p.(Phe295Leu)" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314402" "00023820" "30" "965" "40" "965" "40" "c.965+40G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314402" "00001779" "30" "965" "40" "965" "40" "c.965+40G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314403" "00023820" "30" "965" "7" "965" "7" "c.965+7C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314403" "00001779" "30" "965" "7" "965" "7" "c.965+7C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314404" "00023820" "10" "966" "-372" "966" "-372" "c.966-372C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314404" "00001779" "10" "983" "139" "983" "139" "c.983+139C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314405" "00023820" "30" "966" "-436" "966" "-436" "c.966-436T>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314405" "00001779" "30" "983" "75" "983" "75" "c.983+75T>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314406" "00023820" "30" "966" "-416" "966" "-416" "c.966-416G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314406" "00001779" "30" "983" "95" "983" "95" "c.983+95G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316246" "00023820" "30" "984" "0" "984" "0" "c.984C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316246" "00001779" "30" "1002" "0" "1002" "0" "c.1002C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316247" "00023820" "90" "990" "0" "990" "0" "c.990del" "r.(?)" "p.(His330Glnfs*12)" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316247" "00001779" "90" "1008" "0" "1008" "0" "c.1008del" "r.(?)" "p.(His336Glnfs*12)" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316248" "00023820" "50" "1066" "0" "1066" "0" "c.1066G>A" "r.(?)" "p.(Ala356Thr)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316248" "00001779" "50" "1084" "0" "1084" "0" "c.1084G>A" "r.(?)" "p.(Ala362Thr)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316249" "00023820" "10" "1125" "-6" "1125" "-6" "c.1125-6C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316249" "00001779" "10" "1143" "-6" "1143" "-6" "c.1143-6C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316250" "00023820" "50" "1178" "0" "1178" "0" "c.1178C>T" "r.(?)" "p.(Thr393Met)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316250" "00001779" "50" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Thr399Met)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316251" "00023820" "30" "1308" "0" "1308" "0" "c.1308C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316251" "00001779" "30" "1326" "0" "1326" "0" "c.1326C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316252" "00023820" "30" "1349" "0" "1349" "0" "c.1349C>T" "r.(?)" "p.(Pro450Leu)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316252" "00001779" "30" "1367" "0" "1367" "0" "c.1367C>T" "r.(?)" "p.(Pro456Leu)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316253" "00023820" "50" "1393" "0" "1393" "0" "c.1393G>A" "r.(?)" "p.(Ala465Thr)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316253" "00001779" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Ala471Thr)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316254" "00023820" "50" "1409" "0" "1409" "0" "c.1409C>A" "r.(?)" "p.(Ala470Asp)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316254" "00001779" "50" "1427" "0" "1427" "0" "c.1427C>A" "r.(?)" "p.(Ala476Asp)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316255" "00023820" "30" "1482" "0" "1482" "0" "c.1482G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316255" "00001779" "30" "1500" "0" "1500" "0" "c.1500G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316256" "00023820" "30" "1491" "0" "1491" "0" "c.1491C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316256" "00001779" "30" "1509" "0" "1509" "0" "c.1509C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316257" "00023820" "10" "1508" "-20" "1508" "-20" "c.1508-20C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316257" "00001779" "10" "1526" "-20" "1526" "-20" "c.1526-20C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316258" "00023820" "30" "207" "0" "207" "0" "c.207T>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316258" "00001779" "30" "207" "0" "207" "0" "c.207T>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316259" "00023820" "30" "546" "0" "546" "0" "c.546G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316259" "00001779" "30" "546" "0" "546" "0" "c.546G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316260" "00023820" "50" "622" "0" "639" "0" "c.622_639del" "r.(?)" "p.(Val208_Gln213del)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316260" "00001779" "50" "622" "0" "639" "0" "c.622_639del" "r.(?)" "p.(Val208_Gln213del)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316261" "00023820" "30" "702" "0" "702" "0" "c.702G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316261" "00001779" "30" "702" "0" "702" "0" "c.702G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316262" "00023820" "50" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Ala289Val)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316262" "00001779" "50" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Ala289Val)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316263" "00023820" "30" "885" "0" "885" "0" "c.885C>G" "r.(?)" "p.(Phe295Leu)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000316263" "00001779" "30" "885" "0" "885" "0" "c.885C>G" "r.(?)" "p.(Phe295Leu)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000324506" "00023820" "30" "294" "0" "294" "0" "c.294C>A" "r.(?)" "p.(Asn98Lys)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000324506" "00001779" "30" "294" "0" "294" "0" "c.294C>A" "r.(?)" "p.(Asn98Lys)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000324507" "00023820" "50" "990" "0" "990" "0" "c.990del" "r.(?)" "p.(His330Glnfs*12)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000324507" "00001779" "50" "1008" "0" "1008" "0" "c.1008del" "r.(?)" "p.(His336Glnfs*12)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000324508" "00023820" "50" "1061" "0" "1061" "0" "c.1061G>A" "r.(?)" "p.(Arg354His)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000324508" "00001779" "50" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Arg360His)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337630" "00023820" "30" "1718" "0" "1718" "0" "c.*56C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337630" "00001779" "30" "1736" "0" "1736" "0" "c.*56C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000342253" "00023820" "10" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000342253" "00001779" "10" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000342716" "00023820" "50" "1061" "0" "1061" "0" "c.1061G>A" "r.(?)" "p.(Arg354His)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000342716" "00001779" "50" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Arg360His)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000344471" "00023820" "30" "22" "0" "22" "0" "c.22T>C" "r.(?)" "p.(Cys8Arg)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000344471" "00001779" "30" "22" "0" "22" "0" "c.22T>C" "r.(?)" "p.(Cys8Arg)" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000348785" "00023820" "90" "535" "0" "535" "0" "c.535dup" "r.(?)" "p.(Ser179Phefs*52)" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000348785" "00001779" "90" "535" "0" "535" "0" "c.535dup" "r.(?)" "p.(Ser179Phefs*52)" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000349596" "00023820" "50" "197" "0" "197" "0" "c.197C>T" "r.(?)" "p.(Thr66Met)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000349596" "00001779" "50" "197" "0" "197" "0" "c.197C>T" "r.(?)" "p.(Thr66Met)" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000368213" "00001779" "70" "194" "0" "194" "0" "c.194G>T" "r.(?)" "p.(Arg65Leu)" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000398607" "00001779" "70" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Gln207*)" "" "" "" "" "" "" "disease causing" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000398608" "00001779" "70" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Ala289Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401452" "00023820" "70" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401452" "00001779" "70" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401453" "00023820" "70" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Ala494Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401453" "00001779" "70" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Ala500Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401454" "00023820" "70" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401454" "00001779" "70" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401455" "00023820" "70" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Ala494Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401455" "00001779" "70" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Ala500Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401456" "00023820" "70" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Gln379*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401456" "00001779" "70" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Gln385*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401457" "00023820" "70" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Ala494Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401457" "00001779" "70" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Ala500Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401458" "00023820" "70" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Ala494Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401458" "00001779" "70" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Ala500Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401459" "00023820" "70" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Arg242His)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401459" "00001779" "70" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Arg242His)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401460" "00001779" "70" "1517" "0" "1519" "0" "c.1517_1519del" "r.(?)" "p.(Ile507del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401461" "00023820" "70" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401461" "00001779" "70" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401462" "00023820" "70" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401462" "00001779" "70" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401463" "00001779" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401464" "00023820" "70" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Pro135Leu)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401464" "00001779" "70" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Pro135Leu)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401465" "00023820" "70" "457" "0" "457" "0" "c.457G>T" "r.(?)" "p.(Glu153*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401465" "00001779" "70" "457" "0" "457" "0" "c.457G>T" "r.(?)" "p.(Glu153*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401466" "00023820" "70" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Glu148Lys)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401466" "00001779" "70" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Glu148Lys)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401467" "00023820" "70" "431" "0" "431" "0" "c.431A>G" "r.(?)" "p.(Tyr144Cys)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401467" "00001779" "70" "431" "0" "431" "0" "c.431A>G" "r.(?)" "p.(Tyr144Cys)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401468" "00001779" "70" "229" "0" "240" "0" "c.229_240del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401469" "00023820" "70" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Gln379*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401469" "00001779" "70" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Gln385*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401470" "00023820" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401470" "00001779" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401471" "00023820" "70" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Ser47Gly)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401471" "00001779" "70" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Ser47Gly)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401472" "00023820" "70" "1526" "0" "1526" "0" "c.1526C>T" "r.(?)" "p.(Ala509Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401472" "00001779" "70" "1544" "0" "1544" "0" "c.1544C>T" "r.(?)" "p.(Ala515Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401473" "00023820" "70" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Ala494Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401473" "00001779" "70" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Ala500Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401474" "00023820" "70" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401474" "00001779" "70" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401475" "00023820" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401475" "00001779" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401476" "00023820" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401476" "00001779" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401477" "00023820" "70" "1508" "-2" "1508" "-2" "c.1508-2A>C" "r.spl?" "p.?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401477" "00001779" "70" "1526" "-2" "1526" "-2" "c.1526-2A>C" "r.spl?" "p.?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401478" "00023820" "70" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Pro135Leu)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401478" "00001779" "70" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Pro135Leu)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401479" "00023820" "70" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(Arg227Trp)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401479" "00001779" "70" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(Arg227Trp)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401481" "00023820" "70" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401481" "00001779" "70" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401483" "00023820" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401483" "00001779" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401484" "00023820" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401484" "00001779" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401485" "00023820" "70" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Ala494Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401485" "00001779" "70" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Ala500Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401486" "00023820" "70" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401486" "00001779" "70" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401487" "00023820" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401487" "00001779" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401488" "00023820" "70" "151" "0" "151" "0" "c.151C>T" "r.(?)" "p.(Arg51Trp)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401488" "00001779" "70" "151" "0" "151" "0" "c.151C>T" "r.(?)" "p.(Arg51Trp)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401490" "00023820" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401490" "00001779" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401491" "00023820" "70" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Gln207*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401491" "00001779" "70" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Gln207*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401492" "00023820" "70" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Ala289Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401492" "00001779" "70" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Ala289Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401493" "00023820" "70" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401493" "00001779" "70" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401494" "00023820" "70" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Ala494Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401494" "00001779" "70" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Ala500Val)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000403833" "00023820" "70" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000403833" "00001779" "70" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000403834" "00023820" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000403834" "00001779" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000403835" "00023820" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000403835" "00001779" "70" "241" "0" "252" "0" "c.241_252del" "r.(?)" "p.(Ile81_Lys84del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000404995" "00023820" "75" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Ser178Leu)" "2" "" "" "" "" "" "likely pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000404995" "00001779" "75" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Ser178Leu)" "2" "" "" "" "" "" "likely pathogenic (dominant)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000440023" "00001779" "50" "1678" "0" "1678" "0" "c.1678T>C" "r.(?)" "p.*560Argext*6" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 45 "{{screeningid}}" "{{variantid}}" "0000000391" "0000017084" "0000000391" "0000017085" "0000004012" "0000022913" "0000004013" "0000022914" "0000004013" "0000022915" "0000004014" "0000022916" "0000004015" "0000022917" "0000004015" "0000022918" "0000004016" "0000022919" "0000004017" "0000022921" "0000004017" "0000022922" "0000004018" "0000022923" "0000004019" "0000022924" "0000004020" "0000022925" "0000004020" "0000022931" "0000004021" "0000022926" "0000004021" "0000022932" "0000004022" "0000022927" "0000004023" "0000022928" "0000004024" "0000022929" "0000004025" "0000022930" "0000004025" "0000022933" "0000004086" "0000022996" "0000004087" "0000022997" "0000016107" "0000035784" "0000016251" "0000035993" "0000017846" "0000038051" "0000017846" "0000038052" "0000025008" "0000047851" "0000059016" "0000089815" "0000117277" "0000188122" "0000117323" "0000188168" "0000117326" "0000188171" "0000117359" "0000188204" "0000117369" "0000188214" "0000117438" "0000188283" "0000117447" "0000188292" "0000117480" "0000188506" "0000117481" "0000188507" "0000117491" "0000188526" "0000117502" "0000188515" "0000117525" "0000188362" "0000164640" "0000368213" "0000181308" "0000404995" "0000209805" "0000440023"