### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRNT1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "TRNT1" "tRNA nucleotidyl transferase, CCA-adding, 1" "3" "p25.1" "unknown" "NC_000003.11" "UD_132437283701" "" "https://www.LOVD.nl/TRNT1" "" "1" "17341" "51095" "612907" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TRNT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-08-06 20:49:21" "00000" "2026-05-29 18:36:02" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00021893" "TRNT1" "tRNA nucleotidyl transferase, CCA-adding, 1" "001" "NM_182916.2" "" "NP_886552.2" "" "" "" "-102" "2174" "1305" "3168600" "3190707" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05042" "SIFD" "Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay" "AR" "616084" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06559" "RPEM" "retinitis pigmentosa and erythrocytic microcytosisr" "AR" "616959" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TRNT1" "05042" "TRNT1" "06559" ## Individuals ## Do not remove or alter this header ## ## Count = 33 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00232390" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232391" "" "" "" "6" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232392" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232393" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232394" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232395" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232396" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232397" "" "" "" "14" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00333860" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "80" "00333915" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "M" "" "(United States)" "" "0" "" "" "" "286" "00413740" "" "" "" "1" "" "00000" "{PMID:Giannelou-2018:29358286}" "" "F" "yes" "" "" "0" "" "" "Saudi Arabian" "Patient 1" "00413741" "" "" "" "1" "" "00000" "{PMID:Giannelou-2018:29358286}" "" "F" "yes" "" "" "0" "" "" "Saudi Arabian" "Patient 2" "00413742" "" "" "" "1" "" "00000" "{PMID:Giannelou-2018:29358286}" "" "M" "no" "" "" "0" "" "" "Mixed European" "Patient 3" "00413743" "" "" "" "1" "" "00000" "{PMID:Giannelou-2018:29358286}" "" "F" "no" "" "" "0" "" "" "Mixed European" "Patient 4" "00413744" "" "" "" "1" "" "00000" "{PMID:Giannelou-2018:29358286}" "" "F" "no" "" "" "0" "" "" "Mixed European" "Patient 5" "00413745" "" "" "" "1" "" "00000" "{PMID:Giannelou-2018:29358286}" "" "M" "no" "" "" "0" "" "" "Mixed European" "Patient 6" "00413746" "" "" "" "1" "" "00000" "{PMID:Giannelou-2018:29358286}" "" "F" "no" "" "" "0" "" "" "Mixed European" "Patient 7" "00413747" "" "" "" "1" "" "00000" "{PMID:Giannelou-2018:29358286}" "" "M" "no" "" "" "0" "" "" "Mixed European" "Patient 8" "00413748" "" "" "" "1" "" "00000" "{PMID:Giannelou-2018:29358286}" "" "F" "no" "" "" "0" "" "" "Mixed European" "Patient 9" "00413749" "" "" "" "1" "" "00000" "{PMID:DeLuca-2016:26494905}" "" "M" "" "" "" "0" "" "" "" "Patient 1" "00413750" "" "" "" "1" "" "00000" "{PMID:DeLuca-2016:26494905}" "" "M" "" "" "" "0" "" "" "" "Patient 2" "00413751" "" "" "" "1" "" "00000" "{PMID:DeLuca-2016:26494905}" "" "M" "" "" "" "0" "" "" "" "Patient 3" "00413752" "" "" "" "1" "" "00000" "{PMID:Wedatilake-2016:27370603}" "" "F" "no" "" "" "0" "" "" "European" "Patient 1" "00413753" "" "" "" "1" "" "00000" "{PMID:Wedatilake-2016:27370603}" "" "M" "no" "" "" "0" "" "" "European" "Patient 2" "00413754" "" "" "" "1" "" "00000" "{PMID:Wedatilake-2016:27370603}" "" "F" "yes" "" "" "0" "" "" "Pakistani" "Patient 3" "00413755" "" "" "" "1" "" "00000" "{PMID:Wedatilake-2016:27370603}" "" "M" "yes" "" "" "0" "" "" "Pakistani" "Patient 4" "00413756" "" "" "" "1" "" "00000" "{PMID:Hull-2016:27389523}" "" "F" "yes" "" "" "0" "" "" "Indian" "Patient 1" "00413757" "" "" "" "1" "" "00000" "{PMID:Hull-2016:27389523}" "" "M" "yes" "" "" "0" "" "" "Indian" "Patient 2" "00413758" "" "" "" "1" "" "00000" "{PMID:Hull-2016:27389523}" "" "F" "yes" "" "" "0" "" "" "Indian" "Patient 3" "00429828" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00435627" "" "" "" "1" "" "00006" "{PMID:Calame 2023:37467750}" "" "" "" "United States" "" "0" "" "" "" "BAB4646" "00470682" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected" "F" "" "Poland" "" "0" "" "" "" "Pat43" "00470700" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected" "M" "" "Poland" "" "0" "" "" "" "Pat61" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 33 "{{individualid}}" "{{diseaseid}}" "00232390" "04214" "00232391" "04214" "00232392" "04214" "00232393" "04214" "00232394" "04214" "00232395" "04214" "00232396" "04214" "00232397" "04214" "00333860" "04214" "00333915" "04214" "00413740" "04214" "00413741" "04214" "00413742" "04214" "00413743" "04214" "00413744" "04214" "00413745" "04214" "00413746" "04214" "00413747" "04214" "00413748" "04214" "00413749" "04214" "00413750" "04214" "00413751" "04214" "00413752" "04214" "00413753" "04214" "00413754" "04214" "00413755" "04214" "00413756" "04214" "00413757" "04214" "00413758" "04214" "00429828" "00112" "00435627" "05611" "00470682" "07210" "00470700" "07210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 04214, 05042, 05611, 06559, 07210 ## Count = 25 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000252045" "04214" "00333860" "00000" "Familial, autosomal recessive" "19y" "clinical category IA1a" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000252100" "04214" "00333915" "00000" "Familial, autosomal recessive" "22y" "clinical category IA1aiii" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000305705" "04214" "00413740" "00000" "Unknown" "" "Vertigo, febrile seizures during febrile episodes" "" "" "" "" "" "" "" "syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD)" "0000305706" "04214" "00413741" "00000" "Unknown" "" "Dizziness/ vertigo, opsoclonus during febrile episodes. Mild developmental delay" "" "" "" "" "" "" "" "syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD)" "0000305707" "04214" "00413742" "00000" "Unknown" "" "Optic nerve atrophy ; Severe growth retardation, hypotonia, developmental delay. Seizures; suspected CNS MAS. Abnormal brain MRI (end stage cerebral damage; hemorrhage, volume loss and leukomalacia)" "" "" "" "" "" "" "" "syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD)" "0000305708" "04214" "00413743" "00000" "Unknown" "" "Early retinal degeneration ; Developmental delay and speech delay. Mildly wide based gait, intermittent opsoclonus and nystagmus (worse with fevers).; Bilateral sensorineural hearing loss; cochlear implants. Normal inner ear MRI." "" "" "" "" "" "" "" "syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD)" "0000305709" "04214" "00413744" "00000" "Unknown" "" "Retinitis pigmentosa, retinal degeneration, and optic nerve atrophy. Hyperopia, bilateral cataracts. Pseudophakia status post cataract surgery. Myopic astigmatism. Legally blind; Developmental delay, improved. Mild deficits (mild ataxia and proximal muscle weakness, mild balance difficulties. Absent reflexes at the ankles); Bilateral sensorineural hearing loss; cochlear implants." "" "" "" "" "" "" "" "syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD)" "0000305710" "04214" "00413745" "00000" "Unknown" "" "Retinitis pigmentosa; decreased night time vision. Hyperopic astigmatism; Mild developmental delay, resolved. Attention deficit disorder." "" "" "" "" "" "" "" "syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD)" "0000305711" "04214" "00413746" "00000" "Unknown" "" "Retinitis pigmentosa. Decreased night time vision; Mild developmental delay. History of central catheter-related venous thrombosis of superior vena cava complicated by pseudotumor cerebri." "" "" "" "" "" "" "" "syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD)" "0000305712" "04214" "00413747" "00000" "Unknown" "" "Bilateral sensorineural hearing loss; cochlear implants. Bilateral cataracts.; Developmental delay" "" "" "" "" "" "" "" "syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD)" "0000305713" "04214" "00413748" "00000" "Unknown" "" "Retinitis pigmentosa. Bilateral sensorineural hearing loss; hearing aids; Developmental delay" "" "" "" "" "" "" "" "syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD)" "0000305714" "04214" "00413749" "00000" "Unknown" "19y" "pigmentary changes in the retina; nyctalopia at age 16y; VA with a low myopic correction was 20/20 OU" "16y" "" "nyctalopia" "" "" "" "autosomal-recessive retinitis pigmentosa with erythrocytic microcytosis" "non-syndromic retinitis pigmentosa (RP)" "0000305715" "04214" "00413750" "00000" "Unknown" "21y" "VA with a high myopic correction was 20/40 OD and 20/32 OS; optic nerve heads demonstrated mild pallor and a cup-to-disc ratio of 0.25 OU. There was significant macular edema OU. The retinal arterioles were mildly attenuated; diffuse atrophy of the retinal pigment epithelium in the periphery OU." "" "" "poor night vision" "" "" "" "autosomal-recessive retinitis pigmentosa with erythrocytic microcytosis" "retinitis pigmentosa (RP)" "0000305716" "04214" "00413751" "00000" "Unknown" "18y" "absent scotopic responses and severely diminished photopic responses OU.VA with contact lenses was 20/40 OD and 20/32 OS. Mild pallor and a cup-to-disc ratio of 0.2 OU. Significant macular edema OU. The retinal arterioles were mildly attenuated, and the retinal pigment epithelium showed diffuse atrophy OU." "13y" "" "nyctalopia" "" "" "" "autosomal-recessive retinitis pigmentosa with erythrocytic microcytosis" "retinitis pigmentosa (RP)" "0000305717" "04214" "00413752" "00000" "Unknown" "" "episodes characterised by fever, diarrhoea and vomiting, metabolic acidosis, electrolyte imbalance (episodic hyponatraemia, hypokalaemia, hypocalcaemia, hypomagnesaemia and hypophosphataemia), elevated hepatic transaminases and raised inflammatory markers; severe hypogammaglobulinaemia with B cell maturation arrest" "<1m" "" "febrile illness associated with poor feeding and diarrhoea" "" "" "" "" "complex multisystem disease leading to manifestations in most organs" "0000305718" "04214" "00413753" "00000" "Unknown" "" "central hypotonia, retinal pigmentation, hepatosplenomegaly and exocrine pancreatic insufficiency. He died at 10 months" "<1m" "" "poor feeding, loose stools and pallor, and again at 4 weeks with poor feeding, fever and anaemia" "" "" "" "" "complex multisystem disease leading to manifestations in most organs" "0000305719" "04214" "00413754" "00000" "Unknown" "" "recurrent episodes of fever; global developmental delay, retinitis pigmentosa and bilateral sensorineural deafness" "8m" "" "sideroblastic anaemia" "" "" "" "" "complex multisystem disease leading to manifestations in most organs" "0000305720" "04214" "00413755" "00000" "Unknown" "" "global developmental delay and hypotonia with a microcytic anaemia; underwent bone marrow transplantation" "2m" "" "high fever, vomiting and diarrhoea" "" "" "" "" "complex multisystem disease leading to manifestations in most organs" "0000305721" "04214" "00413756" "00000" "Unknown" "15y" "hypogammaglobulinemia; bilateral, posterior subcapsular cataracts; BCVA: 0.10 logMAR OD and 0.14 logMAR OS" "9m" "" "failure to thrive and several episodes of feverwithout apparent causes" "" "" "" "" "cataract and inner retinal dysfunction" "0000305722" "04214" "00413757" "00000" "Unknown" "13y" "hypogammaglobulinemia; alsohadpoor balance; posterior subcapsular cataracts at 6y; mild disc pallor; BCVA: 0.12 logMAR (20/25 Snellen equivalent) OU at 13y" "7m" "" "" "" "" "" "" "cataract and inner retinal dysfunction" "0000305723" "04214" "00413758" "00000" "Unknown" "9y" "hypogammaglobulinemia; profound sensorineural hearing loss; right cochlear implant surgery was performed at 3 years; dense right cataract was noted at 2 years; a mild left, posterior subcapsular cataract became dense over 2 months; BCVA: 20/25 OD and 20/20 OS" "4m" "" "" "" "" "" "" "cataract and inner retinal dysfunction" "0000320700" "00112" "00429828" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "0000325811" "05611" "00435627" "00006" "Unknown" "" "severe developmental delay/intellectual disability,\r\nprimary immunodeficiency" "" "" "" "" "" "" "MRD75" "neurodevelopmental delay" "0000355576" "07210" "00470682" "00006" "Isolated (sporadic)" "14y" "see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "0000355594" "07210" "00470700" "00006" "Isolated (sporadic)" "18y" "see paper; ... scoliosis, incorrect pelvis rotation ; no symptoms; no physical activity" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" ## Screenings ## Do not remove or alter this header ## ## Count = 33 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000233489" "00232390" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233490" "00232391" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233491" "00232392" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233492" "00232393" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233493" "00232394" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233494" "00232395" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233495" "00232396" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233496" "00232397" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000335086" "00333860" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335141" "00333915" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000415020" "00413740" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA;RNA" "Peripheral blood mononuclear cells (PBMCs)" "WES" "0000415021" "00413741" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA;RNA" "Peripheral blood mononuclear cells (PBMCs)" "WES" "0000415022" "00413742" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA;RNA" "Peripheral blood mononuclear cells (PBMCs)" "WES" "0000415023" "00413743" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA;RNA" "Peripheral blood mononuclear cells (PBMCs)" "WES" "0000415024" "00413744" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA;RNA" "Peripheral blood mononuclear cells (PBMCs)" "WES" "0000415025" "00413745" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA;RNA" "Peripheral blood mononuclear cells (PBMCs)" "WES" "0000415026" "00413746" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA;RNA" "Peripheral blood mononuclear cells (PBMCs)" "WES" "0000415027" "00413747" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA;RNA" "Peripheral blood mononuclear cells (PBMCs)" "WES" "0000415028" "00413748" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA;RNA" "Peripheral blood mononuclear cells (PBMCs)" "WES" "0000415029" "00413749" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG" "DNA;RNA" "dermal fibroblasts" "WES" "0000415030" "00413750" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ;RT-PCR;Western;SSCA" "DNA;RNA" "dermal fibroblasts" "WES" "0000415031" "00413751" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ;RT-PCR;Western;SSCA" "DNA;RNA" "dermal fibroblasts" "WES" "0000415032" "00413752" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ;RT-PCR;Western;SSCA" "DNA;RNA" "" "WES" "0000415033" "00413753" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ;RT-PCR;Western;SSCA" "DNA;RNA" "" "WES" "0000415034" "00413754" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ;RT-PCR;Western;SSCA" "DNA;RNA" "" "WES" "0000415035" "00413755" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ;RT-PCR;Western;SSCA" "DNA;RNA" "" "WES" "0000415036" "00413756" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000415037" "00413757" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000415038" "00413758" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000431241" "00429828" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000437108" "00435627" "1" "00006" "00006" "2023-08-06 11:12:17" "" "" "SEQ-NG" "DNA" "" "" "0000472349" "00470682" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472367" "00470700" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{geneid}}" "0000233489" "TRNT1" "0000233490" "TRNT1" "0000233491" "TRNT1" "0000233492" "TRNT1" "0000233493" "TRNT1" "0000233494" "TRNT1" "0000233495" "TRNT1" "0000233496" "TRNT1" "0000335086" "TRNT1" "0000335141" "TRNT1" "0000415020" "TRNT1" "0000415021" "TRNT1" "0000415022" "TRNT1" "0000415023" "TRNT1" "0000415024" "TRNT1" "0000415025" "TRNT1" "0000415026" "TRNT1" "0000415027" "TRNT1" "0000415028" "TRNT1" "0000415029" "CRB1" "0000415030" "TRNT1" "0000415031" "TRNT1" "0000415032" "TRNT1" "0000415033" "TRNT1" "0000415034" "TRNT1" "0000415035" "TRNT1" "0000415036" "TRNT1" "0000415037" "TRNT1" "0000415038" "TRNT1" "0000431241" "TRNT1" ## 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 = 96 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000317116" "0" "30" "3" "3170829" "3170829" "subst" "0.000357375" "01943" "TRNT1_000001" "g.3170829C>T" "" "" "" "TRNT1(NM_182916.3):c.105C>T (p.P35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3129145C>T" "" "likely benign" "" "0000317117" "0" "50" "3" "3188176" "3188176" "subst" "0" "01943" "TRNT1_000002" "g.3188176C>T" "" "" "" "TRNT1(NM_182916.3):c.671C>T (p.A224V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3146492C>T" "" "VUS" "" "0000476197" "0" "50" "3" "3170722" "3170722" "subst" "4.14687E-6" "02591" "TRNT1_000004" "g.3170722C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.3129038C>T" "" "VUS" "" "0000476198" "0" "50" "3" "3170791" "3170791" "subst" "0.00160402" "02591" "TRNT1_000005" "g.3170791C>G" "6/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs183596892" "0" "" "" "g.3129107C>G" "" "VUS" "" "0000476199" "0" "50" "3" "3178955" "3178955" "subst" "0" "02591" "TRNT1_000006" "g.3178955A>G" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.3137271A>G" "" "VUS" "" "0000476200" "0" "90" "3" "3179090" "3179090" "subst" "2.84872E-5" "02591" "TRNT1_000007" "g.3179090C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs759826831" "0" "" "" "g.3137406C>T" "" "pathogenic" "" "0000476201" "0" "50" "3" "3186291" "3186291" "subst" "0" "02591" "TRNT1_000008" "g.3186291T>G" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.3144607T>G" "" "VUS" "" "0000476202" "0" "90" "3" "3186328" "3186331" "del" "0" "02591" "TRNT1_000009" "g.3186328_3186331del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs769317780" "0" "" "" "g.3144644_3144647del" "" "pathogenic" "" "0000476203" "0" "50" "3" "3188254" "3188254" "subst" "1.21923E-5" "02591" "TRNT1_000010" "g.3188254A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs569328524" "0" "" "" "g.3146570A>G" "" "VUS" "" "0000476204" "0" "50" "3" "3189141" "3189142" "ins" "0" "02591" "TRNT1_000011" "g.3189141_3189142insAAACTT" "14/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs527331900" "0" "" "" "g.3147457_3147458insAAACTT" "" "VUS" "" "0000518994" "0" "90" "3" "3170757" "3170770" "del" "2.03171E-5" "02327" "TRNT1_000012" "g.3170757_3170770del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3129073_3129086del" "" "pathogenic" "" "0000518995" "0" "10" "3" "3170791" "3170791" "subst" "0.00160402" "01943" "TRNT1_000005" "g.3170791C>G" "" "" "" "TRNT1(NM_182916.3):c.67C>G (p.P23A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3129107C>G" "" "benign" "" "0000518996" "0" "50" "3" "3170831" "3170831" "subst" "0.000134012" "01943" "TRNT1_000013" "g.3170831A>T" "" "" "" "TRNT1(NM_182916.3):c.107A>T (p.E36V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3129147A>T" "" "VUS" "" "0000518997" "0" "30" "3" "3179126" "3179126" "subst" "0.000359394" "01943" "TRNT1_000014" "g.3179126A>G" "" "" "" "TRNT1(NM_182916.3):c.331A>G (p.I111V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3137442A>G" "" "likely benign" "" "0000518998" "0" "50" "3" "3186274" "3186274" "subst" "0" "01943" "TRNT1_000015" "g.3186274A>G" "" "" "" "TRNT1(NM_182916.3):c.488A>G (p.D163G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3144590A>G" "" "VUS" "" "0000518999" "0" "50" "3" "3186385" "3186385" "subst" "4.6617E-6" "01943" "CRBN_000007" "g.3186385G>A" "" "" "" "TRNT1(NM_182916.3):c.599G>A (p.R200K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3144701G>A" "" "VUS" "" "0000519000" "0" "10" "3" "3189141" "3189142" "ins" "0" "01943" "TRNT1_000011" "g.3189141_3189142insAAACTT" "" "" "" "TRNT1(NM_182916.3):c.810_811insAAACTT (p.P270_A271insKL)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3147457_3147458insAAACTT" "" "benign" "" "0000608486" "0" "50" "3" "3188205" "3188205" "subst" "0" "01943" "CRBN_000009" "g.3188205T>G" "" "" "" "TRNT1(NM_182916.3):c.700T>G (p.S234A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3146521T>G" "" "VUS" "" "0000608488" "0" "90" "3" "3189683" "3189690" "del" "0" "01943" "CRBN_000011" "g.3189683_3189690del" "" "" "" "TRNT1(NM_182916.3):c.1150_1157delCCTCCATT (p.P384Sfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3147999_3148006del" "" "pathogenic" "" "0000621241" "0" "50" "3" "3170877" "3170877" "subst" "0" "01943" "TRNT1_000016" "g.3170877G>C" "" "" "" "TRNT1(NM_001302946.2):c.148+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3129193G>C" "" "VUS" "" "0000654873" "0" "30" "3" "3189141" "3189142" "ins" "0" "02325" "TRNT1_000011" "g.3189141_3189142insAAACTT" "" "" "" "TRNT1(NM_182916.3):c.810_811insAAACTT (p.P270_A271insKL)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3147457_3147458insAAACTT" "" "likely benign" "" "0000654874" "0" "30" "3" "3189825" "3189825" "subst" "0.000651636" "01943" "CRBN_000012" "g.3189825T>C" "" "" "" "TRNT1(NM_001367321.1):c.1292T>C (p.I431T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3148141T>C" "" "likely benign" "" "0000689022" "0" "30" "3" "3188154" "3188154" "subst" "4.06597E-6" "01943" "CRBN_000013" "g.3188154C>G" "" "" "" "TRNT1(NM_001367321.1):c.649C>G (p.P217A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719342" "0" "50" "3" "3170852" "3170854" "del" "0" "02329" "TRNT1_000017" "g.3170852_3170854del" "" "" "" "TRNT1(NM_001367321.1):c.128_130delAAG (p.E43del), TRNT1(NM_182916.2):c.126_128del (p.(Glu43del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719343" "0" "30" "3" "3189705" "3189705" "subst" "4.06266E-6" "01943" "CRBN_000014" "g.3189705A>G" "" "" "" "TRNT1(NM_182916.3):c.1172A>G (p.H391R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719344" "0" "70" "3" "3189785" "3189785" "dup" "0" "02329" "CRBN_000015" "g.3189785dup" "" "" "" "TRNT1(NM_001367321.1):c.1252dupA (p.S418Kfs*9), TRNT1(NM_182916.3):c.1252dup (p.(Ser418Lysfs*9))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000733095" "1" "70" "3" "3170852" "3170854" "del" "0" "00000" "TRNT1_000017" "g.3170852_3170854del" "" "{PMID:Stone 2017:28559085}" "" "126_128delAGA" "" "Germline" "" "" "0" "" "" "g.3129168_3129170del" "" "likely pathogenic" "" "0000733150" "1" "70" "3" "3188088" "3188088" "subst" "8.69694E-6" "00000" "TRNT1_000018" "g.3188088T>C" "" "{PMID:Stone 2017:28559085}" "" "IVS5-26T>C" "" "Germline" "" "" "0" "" "" "g.3146404T>C" "" "likely pathogenic" "" "0000733548" "2" "70" "3" "3189785" "3189785" "del" "0" "00000" "TRNT1_000019" "g.3189785del" "" "{PMID:Stone 2017:28559085}" "" "1246delA" "" "Germline" "" "" "0" "" "" "g.3148101del" "" "likely pathogenic" "" "0000733594" "2" "70" "3" "3189785" "3189785" "dup" "0" "00000" "CRBN_000015" "g.3189785dup" "" "{PMID:Stone 2017:28559085}" "" "1245_1246insA" "" "Germline" "" "" "0" "" "" "g.3148101dup" "" "likely pathogenic" "" "0000801153" "0" "50" "3" "3188202" "3188202" "subst" "2.84359E-5" "01943" "CRBN_000016" "g.3188202A>G" "" "" "" "TRNT1(NM_001302946.2):c.697A>G (p.I233V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801154" "0" "30" "3" "3188249" "3188249" "subst" "0.000292559" "01943" "CRBN_000017" "g.3188249T>C" "" "" "" "TRNT1(NM_182916.3):c.744T>C (p.G248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850229" "0" "30" "3" "3170737" "3170737" "subst" "0" "02330" "TRNT1_000020" "g.3170737C>T" "" "" "" "TRNT1(NM_001367321.1):c.13C>T (p.L5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850230" "0" "50" "3" "3170767" "3170767" "subst" "8.93474E-5" "01943" "TRNT1_000021" "g.3170767C>T" "" "" "" "TRNT1(NM_001367321.1):c.43C>T (p.R15C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850231" "0" "30" "3" "3179126" "3179126" "subst" "0.000359394" "02326" "TRNT1_000014" "g.3179126A>G" "" "" "" "TRNT1(NM_182916.3):c.331A>G (p.I111V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850232" "0" "70" "3" "3186395" "3186395" "subst" "9.07961E-5" "02330" "CRBN_000018" "g.3186395G>T" "" "" "" "TRNT1(NM_001367321.1):c.608+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000858951" "0" "30" "3" "3186299" "3186299" "subst" "6.255E-5" "02326" "TRNT1_000022" "g.3186299T>C" "" "" "" "TRNT1(NM_182916.3):c.513T>C (p.N171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858952" "0" "30" "3" "3189141" "3189142" "ins" "0" "02330" "TRNT1_000011" "g.3189141_3189142insAAACTT" "" "" "" "TRNT1(NM_182916.3):c.810_811insAAACTT (p.P270_A271insKL)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858953" "0" "30" "3" "3189640" "3189640" "subst" "0" "01943" "CRBN_000019" "g.3189640A>G" "" "" "" "TRNT1(NM_001367321.1):c.1107A>G (p.Q369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000872744" "3" "90" "3" "3188149" "3188149" "subst" "4.06964E-6" "00000" "TRNT1_000028" "g.3188149A>G" "" "{PMID:Giannelou-2018:29358286}" "" "H215R/H215R" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872745" "3" "90" "3" "3188149" "3188149" "subst" "4.06964E-6" "00000" "TRNT1_000028" "g.3188149A>G" "" "{PMID:Giannelou-2018:29358286}" "" "H215R/H215R" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872746" "1" "90" "3" "3186274" "3186274" "subst" "5.72581E-5" "00000" "TRNT1_000026" "g.3186274A>T" "" "{PMID:Giannelou-2018:29358286}" "" "D163V/I223T" "" "Germline" "" "rs146717589" "0" "" "" "" "" "pathogenic" "" "0000872747" "2" "90" "3" "3188173" "3188173" "subst" "3.6575E-5" "00000" "TRNT1_000029" "g.3188173T>C" "" "{PMID:Giannelou-2018:29358286}" "" "D163V/I223T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872748" "1" "90" "3" "3179090" "3179090" "subst" "2.84872E-5" "00000" "TRNT1_000007" "g.3179090C>T" "" "{PMID:Giannelou-2018:29358286}" "" "R99W/ D163V" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872749" "2" "90" "3" "3186274" "3186274" "subst" "5.72581E-5" "00000" "TRNT1_000026" "g.3186274A>T" "" "{PMID:Giannelou-2018:29358286}" "" "R99W/ D163V" "" "Germline" "" "rs146717589" "0" "" "" "" "" "pathogenic" "" "0000872750" "1" "90" "3" "3179090" "3179090" "subst" "2.84872E-5" "00000" "TRNT1_000007" "g.3179090C>T" "" "{PMID:Giannelou-2018:29358286}" "" "R99W/ D163V" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872751" "2" "90" "3" "3186274" "3186274" "subst" "5.72581E-5" "00000" "TRNT1_000026" "g.3186274A>T" "" "{PMID:Giannelou-2018:29358286}" "" "R99W/ D163V" "" "Germline" "" "rs146717589" "0" "" "" "" "" "pathogenic" "" "0000872752" "1" "90" "3" "3179124" "3179124" "subst" "0" "00000" "TRNT1_000023" "g.3179124C>T" "" "{PMID:Giannelou-2018:29358286}" "" "T110I/ D128G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872753" "2" "90" "3" "3182234" "3182234" "subst" "8.52785E-5" "00000" "TRNT1_000025" "g.3182234A>G" "" "{PMID:Giannelou-2018:29358286}" "" "T110I/ D128G" "" "Germline" "" "rs148398677" "0" "" "" "" "" "pathogenic" "" "0000872754" "1" "90" "3" "3179124" "3179124" "subst" "0" "00000" "TRNT1_000023" "g.3179124C>T" "" "{PMID:Giannelou-2018:29358286}" "" "T110I/ D128G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872755" "2" "90" "3" "3182234" "3182234" "subst" "8.52785E-5" "00000" "TRNT1_000025" "g.3182234A>G" "" "{PMID:Giannelou-2018:29358286}" "" "T110I/ D128G" "" "Germline" "" "rs148398677" "0" "" "" "" "" "pathogenic" "" "0000872756" "1" "90" "3" "3189779" "3189779" "subst" "5.28946E-5" "00000" "CRBN_000020" "g.3189779A>G" "" "{PMID:Giannelou-2018:29358286}" "" "K416E/S418Kfs*9" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872757" "2" "90" "3" "3189785" "3189785" "dup" "0" "00000" "CRBN_000015" "g.3189785dup" "" "{PMID:Giannelou-2018:29358286}" "" "K416E/S418Kfs*9" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872758" "1" "90" "3" "3188173" "3188173" "subst" "3.6575E-5" "00000" "TRNT1_000029" "g.3188173T>C" "" "{PMID:Giannelou-2018:29358286}" "" "I223T/S418Kfs*9" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872759" "2" "90" "3" "3189785" "3189785" "dup" "0" "00000" "CRBN_000015" "g.3189785dup" "" "{PMID:Giannelou-2018:29358286}" "" "I223T/S418Kfs*9" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872762" "1" "70" "3" "3189785" "3189785" "del" "0" "00000" "TRNT1_000019" "g.3189785del" "" "{PMID:DeLuca-2016:26494905}" "" "c.1246delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000872764" "1" "70" "3" "3189785" "3189785" "del" "0" "00000" "TRNT1_000019" "g.3189785del" "" "{PMID:DeLuca-2016:26494905}" "" "c.1246delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000872765" "2" "70" "3" "3188088" "3188088" "subst" "8.69694E-6" "00000" "TRNT1_000018" "g.3188088T>C" "" "{PMID:DeLuca-2016:26494905}" "" "c.609-26T > C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000872766" "1" "70" "3" "3189785" "3189785" "del" "0" "00000" "TRNT1_000019" "g.3189785del" "" "{PMID:DeLuca-2016:26494905}" "" "c.1246delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000872767" "2" "70" "3" "3188088" "3188088" "subst" "8.69694E-6" "00000" "TRNT1_000018" "g.3188088T>C" "" "{PMID:DeLuca-2016:26494905}" "" "c.609-26T > C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000872768" "1" "90" "3" "3188173" "3188173" "subst" "3.6575E-5" "00000" "TRNT1_000029" "g.3188173T>C" "" "{PMID:Wedatilake-2016:27370603}" "" "c.668T>C, p.Ile223Thr" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000872769" "2" "90" "3" "3179142" "3179142" "subst" "0" "00000" "TRNT1_000024" "g.3179142G>T" "" "{PMID:Wedatilake-2016:27370603}" "" "c.342+5G>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000872770" "3" "90" "3" "3186355" "3186355" "subst" "0" "00000" "TRNT1_000027" "g.3186355G>T" "" "{PMID:Wedatilake-2016:27370603}" "" "c.569G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872771" "3" "90" "3" "3186355" "3186355" "subst" "0" "00000" "TRNT1_000027" "g.3186355G>T" "" "{PMID:Wedatilake-2016:27370603}" "" "c.569G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872772" "3" "90" "3" "3179090" "3179090" "subst" "2.84872E-5" "00000" "TRNT1_000007" "g.3179090C>T" "" "{PMID:Hull-2016:27389523}" "" "c.295C>T (p.Arg99Trp)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872774" "3" "90" "3" "3179090" "3179090" "subst" "2.84872E-5" "00000" "TRNT1_000007" "g.3179090C>T" "" "{PMID:Hull-2016:27389523}" "" "c.295C>T (p.Arg99Trp)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872775" "3" "90" "3" "3179090" "3179090" "subst" "2.84872E-5" "00000" "TRNT1_000007" "g.3179090C>T" "" "{PMID:Hull-2016:27389523}" "" "c.295C>T (p.Arg99Trp)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000885710" "0" "90" "3" "3170852" "3170854" "del" "0" "01804" "TRNT1_000017" "g.3170852_3170854del" "" "" "" "TRNT1(NM_001367321.1):c.128_130delAAG (p.E43del), TRNT1(NM_182916.2):c.126_128del (p.(Glu43del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885711" "0" "30" "3" "3182352" "3182352" "subst" "0" "02326" "TRNT1_000030" "g.3182352C>A" "" "" "" "TRNT1(NM_182916.3):c.481+20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885712" "0" "90" "3" "3186395" "3186395" "subst" "9.07961E-5" "02327" "CRBN_000018" "g.3186395G>T" "" "" "" "TRNT1(NM_001367321.1):c.608+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885713" "0" "70" "3" "3189785" "3189785" "dup" "0" "02330" "CRBN_000015" "g.3189785dup" "" "" "" "TRNT1(NM_001367321.1):c.1252dupA (p.S418Kfs*9), TRNT1(NM_182916.3):c.1252dup (p.(Ser418Lysfs*9))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000911888" "0" "30" "3" "3170889" "3170889" "subst" "9.38178E-5" "02326" "TRNT1_000031" "g.3170889C>T" "" "" "" "TRNT1(NM_182916.3):c.148+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000916292" "1" "70" "3" "3170852" "3170854" "del" "0" "04436" "TRNT1_000017" "g.3170852_3170854del" "" "{PMID:Panneman 2023:36819107}" "" "c.128_130del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916293" "2" "70" "3" "3189773" "3189773" "subst" "4.0654E-6" "04436" "TRNT1_000032" "g.3189773C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.1240C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000923900" "0" "30" "3" "3170886" "3170886" "subst" "0.000203517" "02326" "TRNT1_000033" "g.3170886A>G" "" "" "" "TRNT1(NM_182916.3):c.148+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923901" "0" "50" "3" "3186385" "3186385" "subst" "4.6617E-6" "02327" "CRBN_000007" "g.3186385G>A" "" "" "" "TRNT1(NM_182916.3):c.599G>A (p.R200K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928760" "0" "30" "3" "3189306" "3189306" "subst" "0" "02326" "CRBN_000021" "g.3189306T>G" "" "" "" "TRNT1(NM_182916.3):c.975T>G (p.F325L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931874" "0" "70" "3" "3189779" "3189779" "subst" "5.28946E-5" "00006" "CRBN_000020" "g.3189779A>G" "" "{PMID:Calame 2023:37467750}" "" "" "variant likely contributes to DD/ID and immunodeficiency phenotype" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000931875" "0" "70" "3" "3186395" "3186395" "subst" "9.07961E-5" "00006" "CRBN_000018" "g.3186395G>T" "" "{PMID:Calame 2023:37467750}" "" "" "variant likely contributes to DD/ID and immunodeficiency phenotype" "Germline" "" "" "0" "" "" "g.3144711G>T" "" "likely pathogenic" "" "0000948113" "0" "70" "3" "3186324" "3186324" "subst" "3.72168E-5" "02329" "CRBN_000022" "g.3186324A>T" "" "" "" "TRNT1(NM_001367321.1):c.538A>T (p.K180*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948114" "0" "90" "3" "3189767" "3189767" "subst" "2.84544E-5" "02326" "CRBN_000023" "g.3189767C>T" "" "" "" "TRNT1(NM_182916.3):c.1234C>T (p.R412*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000962666" "0" "30" "3" "3179026" "3179026" "subst" "0.000670519" "02330" "TRNT1_000034" "g.3179026T>C" "" "" "" "TRNT1(NM_001367321.1):c.231T>C (p.D77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962668" "0" "30" "3" "3189658" "3189658" "subst" "0" "02330" "CRBN_000024" "g.3189658A>G" "" "" "" "TRNT1(NM_001367321.1):c.1125A>G (p.L375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962669" "0" "50" "3" "3189687" "3189687" "subst" "0" "02325" "CRBN_000025" "g.3189687C>T" "" "" "" "TRNT1(NM_182916.3):c.1154C>T (p.P385L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962670" "0" "70" "3" "3189773" "3189773" "subst" "4.0654E-6" "02326" "TRNT1_000032" "g.3189773C>T" "" "" "" "TRNT1(NM_182916.3):c.1240C>T (p.Q414*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975748" "0" "90" "3" "3188173" "3188173" "subst" "3.6575E-5" "01804" "TRNT1_000029" "g.3188173T>C" "" "" "" "TRNT1(NM_182916.3):c.668T>C (p.(Ile223Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975749" "0" "50" "3" "3189677" "3189677" "subst" "0" "01804" "CRBN_000026" "g.3189677T>C" "" "" "" "TRNT1(NM_182916.3):c.1144T>C (p.(Ser382Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993577" "0" "30" "3" "3182189" "3182189" "subst" "4.09678E-6" "02325" "TRNT1_000035" "g.3182189T>C" "" "" "" "TRNT1(NM_182916.3):c.343-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033898" "0" "50" "3" "3189218" "3189218" "subst" "0" "01804" "CRBN_000027" "g.3189218T>C" "" "" "" "TRNT1(NM_182916.3):c.887T>C (p.(Leu296Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033899" "0" "50" "3" "3195658" "3195658" "subst" "9.34724E-5" "01804" "CRBN_000028" "g.3195658C>G" "" "" "" "CRBN(NM_016302.4):c.937G>C (p.(Asp313His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051188" "0" "70" "3" "3170852" "3170854" "del" "0" "02327" "TRNT1_000017" "g.3170852_3170854del" "" "" "" "TRNT1(NM_001367321.1):c.128_130delAAG (p.E43del), TRNT1(NM_182916.2):c.126_128del (p.(Glu43del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001051189" "0" "90" "3" "3189785" "3189785" "dup" "0" "01804" "CRBN_000015" "g.3189785dup" "" "" "" "TRNT1(NM_001367321.1):c.1252dupA (p.S418Kfs*9), TRNT1(NM_182916.3):c.1252dup (p.(Ser418Lysfs*9))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001051190" "0" "30" "3" "3192733" "3192733" "subst" "0" "01804" "CRBN_000029" "g.3192733A>G" "" "" "" "CRBN(NM_016302.4):c.1149-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001060831" "0" "70" "3" "3189310" "3189310" "del" "0" "00006" "TRNT1_000037" "g.3189310del" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PVS1, PM2; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.3147626del" "" "likely pathogenic" "ACMG" "0001060862" "0" "90" "3" "3179058" "3179061" "del" "4.06623E-6" "00006" "TRNT1_000036" "g.3179058_3179061del" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PVS1, PM2, PP5; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.3137374_3137377del" "" "pathogenic" "ACMG" "0001078320" "0" "50" "3" "3182499" "3182499" "subst" "0" "03779" "TRNT1_000038" "g.3182499G>T" "" "" "" "" "" "Unknown" "" "rs951612896" "0" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TRNT1 ## Count = 96 "{{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}}" "0000317116" "00021893" "30" "105" "0" "105" "0" "c.105C>T" "r.(?)" "p.(Pro35=)" "" "0000317117" "00021893" "50" "671" "0" "671" "0" "c.671C>T" "r.(?)" "p.(Ala224Val)" "" "0000476197" "00021893" "50" "-3" "0" "-3" "0" "c.-3C>T" "r.(=)" "p.(=)" "" "0000476198" "00021893" "50" "67" "0" "67" "0" "c.67C>G" "r.(?)" "p.(Pro23Ala)" "" "0000476199" "00021893" "50" "160" "0" "160" "0" "c.160A>G" "r.(?)" "p.(Lys54Glu)" "" "0000476200" "00021893" "90" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Arg99Trp)" "" "0000476201" "00021893" "50" "505" "0" "505" "0" "c.505T>G" "r.(?)" "p.(Tyr169Asp)" "" "0000476202" "00021893" "90" "542" "0" "545" "0" "c.542_545del" "r.(?)" "p.(Val181Aspfs*18)" "" "0000476203" "00021893" "50" "749" "0" "749" "0" "c.749A>G" "r.(?)" "p.(His250Arg)" "" "0000476204" "00021893" "50" "810" "0" "811" "0" "c.810_811insAAACTT" "r.(?)" "p.(Pro270_Ala271insLysLeu)" "" "0000518994" "00021893" "90" "33" "0" "46" "0" "c.33_46del" "r.(?)" "p.(Leu13GlufsTer2)" "" "0000518995" "00021893" "10" "67" "0" "67" "0" "c.67C>G" "r.(?)" "p.(Leu23Val)" "" "0000518996" "00021893" "50" "107" "0" "107" "0" "c.107A>T" "r.(?)" "p.(Glu36Val)" "" "0000518997" "00021893" "30" "331" "0" "331" "0" "c.331A>G" "r.(?)" "p.(Ile111Val)" "" "0000518998" "00021893" "50" "488" "0" "488" "0" "c.488A>G" "r.(?)" "p.(Asp163Gly)" "" "0000518999" "00021893" "50" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Arg200Lys)" "" "0000519000" "00021893" "10" "810" "0" "811" "0" "c.810_811insAAACTT" "r.(?)" "p.(Pro270_Ala271insLysLeu)" "" "0000608486" "00021893" "50" "700" "0" "700" "0" "c.700T>G" "r.(?)" "p.(Ser234Ala)" "" "0000608488" "00021893" "90" "1150" "0" "1157" "0" "c.1150_1157del" "r.(?)" "p.(Pro384SerfsTer6)" "" "0000621241" "00021893" "50" "148" "5" "148" "5" "c.148+5G>C" "r.spl?" "p.?" "" "0000654873" "00021893" "30" "810" "0" "811" "0" "c.810_811insAAACTT" "r.(?)" "p.(Pro270_Ala271insLysLeu)" "" "0000654874" "00021893" "30" "1292" "0" "1292" "0" "c.1292T>C" "r.(?)" "p.(Ile431Thr)" "" "0000689022" "00021893" "30" "649" "0" "649" "0" "c.649C>G" "r.(?)" "p.(Pro217Ala)" "" "0000719342" "00021893" "50" "128" "0" "130" "0" "c.128_130del" "r.(?)" "p.(Glu43del)" "" "0000719343" "00021893" "30" "1172" "0" "1172" "0" "c.1172A>G" "r.(?)" "p.(His391Arg)" "" "0000719344" "00021893" "70" "1252" "0" "1252" "0" "c.1252dup" "r.(?)" "p.(Ser418Lysfs*9)" "" "0000733095" "00021893" "70" "128" "0" "130" "0" "c.128_130del" "r.(?)" "p.(Glu43del)" "" "0000733150" "00021893" "70" "609" "-26" "609" "-26" "c.609-26T>C" "r.spl" "p.?" "" "0000733548" "00021893" "70" "1252" "0" "1252" "0" "c.1252del" "r.(?)" "p.(Ser418Valfs*11)" "" "0000733594" "00021893" "70" "1252" "0" "1252" "0" "c.1252dup" "r.(?)" "p.(Ser418Lysfs*9)" "" "0000801153" "00021893" "50" "697" "0" "697" "0" "c.697A>G" "r.(?)" "p.(Ile233Val)" "" "0000801154" "00021893" "30" "744" "0" "744" "0" "c.744T>C" "r.(?)" "p.(Gly248=)" "" "0000850229" "00021893" "30" "13" "0" "13" "0" "c.13C>T" "r.(?)" "p.(Leu5=)" "" "0000850230" "00021893" "50" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15Cys)" "" "0000850231" "00021893" "30" "331" "0" "331" "0" "c.331A>G" "r.(?)" "p.(Ile111Val)" "" "0000850232" "00021893" "70" "608" "1" "608" "1" "c.608+1G>T" "r.spl?" "p.?" "" "0000858951" "00021893" "30" "513" "0" "513" "0" "c.513T>C" "r.(?)" "p.(Asn171=)" "" "0000858952" "00021893" "30" "810" "0" "811" "0" "c.810_811insAAACTT" "r.(?)" "p.(Pro270_Ala271insLysLeu)" "" "0000858953" "00021893" "30" "1107" "0" "1107" "0" "c.1107A>G" "r.(?)" "p.(Gln369=)" "" "0000872744" "00021893" "90" "644" "0" "644" "0" "c.644A>G" "r.(?)" "p.(His215Arg)" "6" "0000872745" "00021893" "90" "644" "0" "644" "0" "c.644A>G" "r.(?)" "p.(His215Arg)" "6" "0000872746" "00021893" "90" "488" "0" "488" "0" "c.488A>T" "r.(?)" "p.(Asp163Val)" "5" "0000872747" "00021893" "90" "668" "0" "668" "0" "c.668T>C" "r.(?)" "p.(Ile223Thr)" "6" "0000872748" "00021893" "90" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Arg99Trp)" "3" "0000872749" "00021893" "90" "488" "0" "488" "0" "c.488A>T" "r.(?)" "p.(Asp163Val)" "5" "0000872750" "00021893" "90" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Arg99Trp)" "3" "0000872751" "00021893" "90" "488" "0" "488" "0" "c.488A>T" "r.(?)" "p.(Asp163Val)" "5" "0000872752" "00021893" "90" "329" "0" "329" "0" "c.329C>T" "r.(?)" "p.(Thr110Ile)" "3" "0000872753" "00021893" "90" "383" "0" "383" "0" "c.383A>G" "r.(?)" "p.(Asp128Gly)" "4" "0000872754" "00021893" "90" "329" "0" "329" "0" "c.329C>T" "r.(?)" "p.(Thr110Ile)" "3" "0000872755" "00021893" "90" "383" "0" "383" "0" "c.383A>G" "r.(?)" "p.(Asp128Gly)" "4" "0000872756" "00021893" "90" "1246" "0" "1246" "0" "c.1246A>G" "r.(?)" "p.(Lys416Glu)" "8" "0000872757" "00021893" "90" "1252" "0" "1252" "0" "c.1252dup" "r.(?)" "p.(Ser418Lysfs*9)" "8" "0000872758" "00021893" "90" "668" "0" "668" "0" "c.668T>C" "r.(?)" "p.(Ile223Thr)" "6" "0000872759" "00021893" "90" "1252" "0" "1252" "0" "c.1252dup" "r.(?)" "p.(Ser418Lysfs*9)" "8" "0000872762" "00021893" "70" "1252" "0" "1252" "0" "c.1252del" "r.(?)" "p.(Ser418Valfs*11)" "8" "0000872764" "00021893" "70" "1252" "0" "1252" "0" "c.1252del" "r.(?)" "p.(Ser418Valfs*11)" "8" "0000872765" "00021893" "70" "609" "-26" "609" "-26" "c.609-26T>C" "r.(=)" "p.(=)" "5i" "0000872766" "00021893" "70" "1252" "0" "1252" "0" "c.1252del" "r.(?)" "p.(Ser418Valfs*11)" "8" "0000872767" "00021893" "70" "609" "-26" "609" "-26" "c.609-26T>C" "r.(=)" "p.(=)" "5i" "0000872768" "00021893" "90" "668" "0" "668" "0" "c.668T>C" "r.(?)" "p.(Ile223Thr)" "6" "0000872769" "00021893" "90" "342" "5" "342" "5" "c.342+5G>T" "r.spl?" "p.?" "3i" "0000872770" "00021893" "90" "569" "0" "569" "0" "c.569G>T" "r.(?)" "p.(Arg190Ile)" "5" "0000872771" "00021893" "90" "569" "0" "569" "0" "c.569G>T" "r.(?)" "p.(Arg190Ile)" "5" "0000872772" "00021893" "90" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Arg99Trp)" "3" "0000872774" "00021893" "90" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Arg99Trp)" "3" "0000872775" "00021893" "90" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Arg99Trp)" "3" "0000885710" "00021893" "90" "128" "0" "130" "0" "c.128_130del" "r.(?)" "p.(Glu43del)" "" "0000885711" "00021893" "30" "481" "20" "481" "20" "c.481+20C>A" "r.(=)" "p.(=)" "" "0000885712" "00021893" "90" "608" "1" "608" "1" "c.608+1G>T" "r.spl?" "p.?" "" "0000885713" "00021893" "70" "1252" "0" "1252" "0" "c.1252dup" "r.(?)" "p.(Ser418Lysfs*9)" "" "0000911888" "00021893" "30" "148" "17" "148" "17" "c.148+17C>T" "r.(=)" "p.(=)" "" "0000916292" "00021893" "70" "128" "0" "130" "0" "c.128_130del" "r.(?)" "p.(Glu43del)" "2" "0000916293" "00021893" "70" "1240" "0" "1240" "0" "c.1240C>T" "r.(?)" "p.(Gln414*)" "8" "0000923900" "00021893" "30" "148" "14" "148" "14" "c.148+14A>G" "r.(=)" "p.(=)" "" "0000923901" "00021893" "50" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Arg200Lys)" "" "0000928760" "00021893" "30" "975" "0" "975" "0" "c.975T>G" "r.(?)" "p.(Phe325Leu)" "" "0000931874" "00021893" "70" "1246" "0" "1246" "0" "c.1246A>G" "r.(?)" "p.(Lys416Glu)" "" "0000931875" "00021893" "70" "608" "1" "608" "1" "c.608+1G>T" "r.spl" "p.?" "" "0000948113" "00021893" "70" "538" "0" "538" "0" "c.538A>T" "r.(?)" "p.(Lys180*)" "" "0000948114" "00021893" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "" "0000962666" "00021893" "30" "231" "0" "231" "0" "c.231T>C" "r.(?)" "p.(=)" "" "0000962668" "00021893" "30" "1125" "0" "1125" "0" "c.1125A>G" "r.(?)" "p.(=)" "" "0000962669" "00021893" "50" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Pro385Leu)" "" "0000962670" "00021893" "70" "1240" "0" "1240" "0" "c.1240C>T" "r.(?)" "p.(Gln414*)" "" "0000975748" "00021893" "90" "668" "0" "668" "0" "c.668T>C" "r.(?)" "p.(Ile223Thr)" "" "0000975749" "00021893" "50" "1144" "0" "1144" "0" "c.1144T>C" "r.(?)" "p.(Ser382Pro)" "" "0000993577" "00021893" "30" "343" "-5" "343" "-5" "c.343-5T>C" "r.spl?" "p.?" "" "0001033898" "00021893" "50" "887" "0" "887" "0" "c.887T>C" "r.(?)" "p.(Leu296Ser)" "" "0001033899" "00021893" "50" "7125" "0" "7125" "0" "c.*5820C>G" "r.(=)" "p.(=)" "" "0001051188" "00021893" "70" "128" "0" "130" "0" "c.128_130del" "r.(?)" "p.(Glu43del)" "" "0001051189" "00021893" "90" "1252" "0" "1252" "0" "c.1252dup" "r.(?)" "p.(Ser418Lysfs*9)" "" "0001051190" "00021893" "30" "4200" "0" "4200" "0" "c.*2895A>G" "r.(=)" "p.(=)" "" "0001060831" "00021893" "70" "979" "0" "979" "0" "c.979del" "r.(?)" "p.(Val327LeufsTer7)" "" "0001060862" "00021893" "90" "263" "0" "266" "0" "c.263_266del" "r.(?)" "p.(Gln88ArgfsTer12)" "" "0001078320" "00021893" "50" "481" "167" "481" "167" "c.481+167G>T" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 46 "{{screeningid}}" "{{variantid}}" "0000233489" "0000476197" "0000233490" "0000476198" "0000233491" "0000476199" "0000233492" "0000476200" "0000233493" "0000476201" "0000233494" "0000476202" "0000233495" "0000476203" "0000233496" "0000476204" "0000335086" "0000733095" "0000335086" "0000733548" "0000335141" "0000733150" "0000335141" "0000733594" "0000415020" "0000872744" "0000415021" "0000872745" "0000415022" "0000872746" "0000415022" "0000872747" "0000415023" "0000872748" "0000415023" "0000872749" "0000415024" "0000872750" "0000415024" "0000872751" "0000415025" "0000872752" "0000415025" "0000872753" "0000415026" "0000872754" "0000415026" "0000872755" "0000415027" "0000872756" "0000415027" "0000872757" "0000415028" "0000872758" "0000415028" "0000872759" "0000415029" "0000872762" "0000415030" "0000872764" "0000415030" "0000872765" "0000415031" "0000872766" "0000415031" "0000872767" "0000415032" "0000872768" "0000415033" "0000872769" "0000415034" "0000872770" "0000415035" "0000872771" "0000415036" "0000872772" "0000415037" "0000872774" "0000415038" "0000872775" "0000431241" "0000916292" "0000431241" "0000916293" "0000437108" "0000931874" "0000437108" "0000931875" "0000472349" "0001060862" "0000472367" "0001060831"