### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HINT1) # 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}}" "HINT1" "histidine triad nucleotide binding protein 1" "5" "q31.2" "unknown" "NG_032998.1" "UD_132610482149" "" "https://www.LOVD.nl/USP4HINT1" "" "1" "4912" "3094" "601314" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/HINT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-04 16:54:56" "00000" "2024-04-19 20:27:30" ## 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}}" "00009333" "HINT1" "transcript variant 1" "001" "NM_005340.5" "" "NP_005331.1" "" "" "" "-136" "646" "381" "130501034" "130494875" "" "0000-00-00 00:00:00" "" "" "00025367" "HINT1" "transcript variant 1" "001" "NM_005340.6" "" "NP_005331.1" "" "" "" "-143" "545" "381" "130501041" "130494976" "00006" "2019-02-04 16:54:25" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01341" "NMAN" "neuromyotonia and axonal neuropathy, autosomal recessive (NMAN, Gamstorp-Wohlfart syndrome)" "AR" "137200" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HINT1" "01341" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00035947" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035948" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00207942" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00207968" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00210188" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00219057" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat67" "00219058" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat68" "00219059" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat69" "00219060" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat70" "00219061" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat71" "00295640" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00296544" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00301389" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00375213" "" "" "" "1" "" "01164" "" "" "?" "" "" "" "0" "" "" "" "" "00386458" "" "" "" "1" "" "00006" "{DOI:Riba 2021:10.1089/gtmb.2020.0330}" "patient" "F" "no" "Brazil" "" "0" "" "" "white" "Pat58" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00219057" "05113" "00219058" "05113" "00219059" "05113" "00219060" "05113" "00219061" "05113" "00295640" "00198" "00296544" "00198" "00301389" "00198" "00375213" "00198" "00386458" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01341, 05113, 05517 ## Count = 14 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000155714" "00198" "00207942" "01164" "Unknown" "" "HP:0011804 (Abnormality of muscle physiology); HP:0003326 (Myalgia)" "" "" "" "" "" "" "" "" "" "" "" "0000155737" "00198" "00207968" "01164" "Unknown" "" "HP:0003198 (Myopathy); HP:0011805 (Abnormality of muscle morphology)" "" "" "" "" "" "" "" "" "" "" "" "0000158755" "00198" "00210188" "01164" "Unknown" "" "HP:0009830 (Peripheral neuropathy)" "" "" "" "" "" "" "" "" "" "" "" "0000167614" "05113" "00219057" "00006" "Unknown" "" "AR-CMT2 + Neuromyotonia; no family history" "" "" "" "" "" "" "" "" "NMAN" "Charcot-Marie-Tooth diseae" "" "0000167615" "05113" "00219058" "00006" "Familial, autosomal recessive" "" "AR-CMT2 + Neuromyotonia" "" "" "" "" "" "" "" "" "NMAN" "Charcot-Marie-Tooth diseae" "" "0000167616" "05113" "00219059" "00006" "Unknown" "" "AR-CMT2 + Neuromyotonia" "" "" "" "" "" "" "" "" "NMAN" "Charcot-Marie-Tooth diseae" "" "0000167617" "05113" "00219060" "00006" "Unknown" "" "AR-CMT2 + Neuromyotonia" "" "" "" "" "" "" "" "" "NMAN" "Charcot-Marie-Tooth diseae" "" "0000167618" "05113" "00219061" "00006" "Familial, autosomal recessive" "" "AR-CMT2 + Neuromyotonia" "" "" "" "" "" "" "" "" "NMAN" "Charcot-Marie-Tooth diseae" "" "0000223204" "00198" "00295640" "01164" "Unknown" "" "Muscle stiffness (HP:0003552); Myopathy (HP:0003198)" "" "" "" "" "" "" "" "" "" "" "" "0000223951" "00198" "00296544" "01164" "Unknown" "" "Gait disturbance (HP:0001288); Talipes equinovarus (HP:0001762)" "" "" "" "" "" "" "" "" "" "" "" "0000228567" "00198" "00301389" "01164" "Unknown" "" "Peripheral axonal degeneration (HP:0000764); Sensory axonal neuropathy (HP:0003390)" "" "" "" "" "" "" "" "" "" "" "" "0000270423" "00198" "00375213" "01164" "Unknown" "" "Muscle weakness (HP:0001324)" "" "" "" "" "" "" "" "" "" "" "" "0000280265" "05517" "00386458" "00006" "Unknown" "2y" "macrocephaly; rhizomelic members; trident hands; no lordosis; no hydrocephalus; no cloverleaf skull; no bowed femurs" "" "" "" "" "" "" "" "" "ACH" "achondroplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000036017" "00035947" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036018" "00035948" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000208987" "00207942" "1" "01164" "01164" "2018-12-04 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000209013" "00207968" "1" "01164" "01164" "2018-12-05 09:44:56" "" "" "SEQ-NG" "DNA" "" "" "0000211264" "00210188" "1" "01164" "01164" "2018-12-27 15:49:41" "" "" "SEQ-NG" "DNA" "" "" "0000220129" "00219057" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220130" "00219058" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220131" "00219059" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220132" "00219060" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220133" "00219061" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000296812" "00295640" "1" "01164" "01164" "2020-03-22 12:43:04" "" "" "SEQ-NG-S" "DNA" "" "" "0000297654" "00296544" "1" "01164" "01164" "2020-04-08 09:54:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000302510" "00301389" "1" "01164" "01164" "2020-05-15 11:16:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000376407" "00375213" "1" "01164" "01164" "2021-05-31 12:07:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000387686" "00386458" "1" "00006" "00006" "2021-10-22 16:36:58" "" "" "SEQ" "DNA" "" "hot spot exons" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000036017" "HINT1" "0000036018" "HINT1" "0000220129" "HINT1" "0000220130" "HINT1" "0000220131" "HINT1" "0000220132" "HINT1" "0000220133" "HINT1" "0000387686" "FGFR3" ## 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 = 26 "{{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}}" "0000063142" "1" "90" "5" "130500789" "130500789" "subst" "0.000260905" "01164" "HINT1_000002" "g.130500789C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.131165096C>G" "" "pathogenic" "" "0000063143" "1" "10" "5" "130500751" "130500751" "subst" "0.283607" "01164" "HINT1_000001" "g.130500751A>C" "frequency uo to 0,44%" "" "" "" "" "Germline" "" "rs2278060" "0" "" "" "g.131165058A>C" "" "benign" "" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000246327" "0" "10" "5" "130498364" "130498364" "subst" "0.00201016" "02330" "HINT1_000003" "g.130498364A>G" "" "" "" "HINT1(NM_005340.7):c.117T>C (p.L39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131162671A>G" "" "benign" "" "0000246328" "0" "10" "5" "130500842" "130500842" "subst" "0.0494965" "02330" "HINT1_000004" "g.130500842A>G" "" "" "" "HINT1(NM_005340.7):c.57T>C (p.F19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131165149A>G" "" "benign" "" "0000439050" "0" "70" "5" "130500789" "130500789" "subst" "0.000260905" "01164" "HINT1_000002" "g.130500789C>G" "" "" "" "" "ACMG grading: PP5,PP1,PM3,PM2; recessive carrier, no second variant detected; reported in Zimon (2012) Nat Genet 44: 1080 Laššuthová (2014) Neurogenetics" "Germline" "" "rs149782619" "0" "" "" "g.131165096C>G" "" "likely pathogenic" "ACMG" "0000439094" "3" "90" "5" "130500789" "130500789" "subst" "0.000260905" "01164" "HINT1_000002" "g.130500789C>G" "" "" "" "" "ACMG grading: PS3,PP5,PM2,PM3,PP1; recurrent foundermutation; reported in Laššuthová (2014) Neurogenetics; Zimon (2012) Nat Genet 44: 1080; Jerath , 2015" "Germline" "" "rs149782619" "0" "" "" "g.131165096C>G" "" "pathogenic" "ACMG" "0000442733" "0" "90" "5" "130495205" "130495205" "subst" "4.06101E-6" "01164" "HINT1_000005" "g.130495205G>A" "" "" "" "" "ACMG grading: PP5,PM2,PVS1; reported in Laššuthová 2014. Neurogenetics 16: 43–54" "Germline" "" "" "0" "" "" "g.131159512G>A" "" "pathogenic" "ACMG" "0000442734" "0" "90" "5" "130498304" "130498305" "del" "0" "01164" "HINT1_000006" "g.130498304_130498305del" "" "" "" "" "ACMG grading: PP5,PM2,PVS1" "Germline" "" "" "0" "" "" "g.131162611_131162612del" "" "pathogenic" "ACMG" "0000455025" "1" "90" "5" "130500789" "130500789" "subst" "0.000260905" "00006" "HINT1_000002" "g.130500789C>G" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.131165096C>G" "" "pathogenic" "" "0000455026" "2" "90" "5" "130495187" "130495187" "subst" "1.62455E-5" "00006" "HINT1_000007" "g.130495187G>T" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.131159494G>T" "" "pathogenic" "" "0000455027" "3" "90" "5" "130500789" "130500789" "subst" "0.000260905" "00006" "HINT1_000002" "g.130500789C>G" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.131165096C>G" "" "pathogenic" "" "0000455028" "3" "90" "5" "130500789" "130500789" "subst" "0.000260905" "00006" "HINT1_000002" "g.130500789C>G" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.131165096C>G" "" "pathogenic" "" "0000455029" "2" "90" "5" "130500789" "130500789" "subst" "0.000260905" "00006" "HINT1_000002" "g.130500789C>G" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.131165096C>G" "" "pathogenic" "" "0000455030" "1" "90" "5" "130495255" "130495255" "subst" "8.12896E-6" "00006" "HINT1_000008" "g.130495255C>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.131159562C>A" "" "pathogenic" "" "0000455031" "3" "90" "5" "130495255" "130495255" "subst" "8.12896E-6" "00006" "HINT1_000008" "g.130495255C>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.131159562C>A" "" "pathogenic" "" "0000524133" "0" "30" "5" "130498364" "130498364" "subst" "0.00201016" "02326" "HINT1_000003" "g.130498364A>G" "" "" "" "HINT1(NM_005340.7):c.117T>C (p.L39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131162671A>G" "" "likely benign" "" "0000653525" "0" "70" "5" "130500789" "130500789" "subst" "0.000260905" "01164" "HINT1_000002" "g.130500789C>G" "" "" "" "" "ACMG: PM2,PM3,PP1,PP5; no second variant in HINT1 detected" "Germline" "" "rs149782619" "0" "" "" "g.131165096C>G" "" "likely pathogenic" "ACMG" "0000660261" "3" "90" "5" "130500789" "130500789" "subst" "0.000260905" "01164" "HINT1_000002" "g.130500789C>G" "" "" "" "" "age at diagnosis: 20y; Zimon et al. 2012. Nat Genet 44: 1080; Laššuthová et al. 2015. Neurogenetics 16: 43; Laššuthová et al. 2016. Orphanet J Rare Dis 11: 119; Shah et al. 2018. J Mol Biol 17: 2709" "Germline" "" "rs149782619" "0" "" "" "g.131165096C>G" "" "pathogenic" "" "0000665799" "3" "70" "5" "130495255" "130495255" "subst" "8.12896E-6" "01164" "HINT1_000008" "g.130495255C>A" "" "" "" "" "borderline ovarian carcinoma at age 43y, tubular BC at age 62y, sister BC at age 48y, CRC in paternal family, mother pancreatic cancer at age 64y; Tiao et al. 2017. Leukemia 31: 2244; Yurgelun et al. 2017. J Clin Oncol 35: 1086; Lu et al. 2015. Nat Commun 6: 10084" "Germline" "" "rs397514490" "0" "" "" "g.131159562C>A" "" "likely pathogenic" "" "0000720160" "0" "30" "5" "130498372" "130498372" "subst" "0" "02330" "HINT1_000009" "g.130498372A>G" "" "" "" "HINT1(NM_005340.7):c.112-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000788008" "0" "70" "5" "130500789" "130500789" "subst" "0.000260905" "01164" "HINT1_000002" "g.130500789C>G" "" "" "" "" "ACMG grading: PM2,PM3,PP1,PP5" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000815842" "1" "90" "4" "1806040" "1806040" "subst" "0.00530533" "00006" "FGFR3_000051" "g.1806040C>T" "" "{DOI:Riba 2021:10.1089/gtmb.2020.0330}" "" "p.Gly380ArgG>A + c.1076-17C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.1804313C>T" "" "pathogenic (dominant)" "" "0000859746" "0" "30" "5" "130498289" "130498289" "subst" "4.0618E-6" "02330" "HINT1_000010" "g.130498289A>G" "" "" "" "HINT1(NM_005340.7):c.192T>C (p.S64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924234" "0" "30" "5" "130498322" "130498322" "subst" "0.000129977" "02330" "HINT1_000011" "g.130498322C>T" "" "" "" "HINT1(NM_005340.7):c.159G>A (p.L53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976533" "0" "50" "5" "130498278" "130498278" "subst" "2.43716E-5" "01804" "HINT1_000012" "g.130498278T>A" "" "" "" "HINT1(NM_005340.7):c.203A>T (p.(Asp68Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes HINT1 ## Count = 33 "{{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}}" "0000063142" "00009333" "90" "110" "0" "110" "0" "c.110G>C" "r.(=)" "p.(Arg37Pro)" "" "0000063143" "00009333" "10" "111" "37" "111" "37" "c.111+37T>G" "r.(=)" "p.(=)" "" "0000079500" "00025367" "00" "-8388608" "0" "6666997" "0" "c.-15216387_*6666616dup" "r.0?" "p.0?" "" "0000079500" "00009333" "00" "-8388608" "0" "6666997" "0" "c.-15216387_*6666616dup" "" "" "" "0000246327" "00025367" "10" "117" "0" "117" "0" "c.117T>C" "r.(?)" "p.(Leu39=)" "" "0000246327" "00009333" "10" "117" "0" "117" "0" "c.117T>C" "r.(?)" "p.(Leu39=)" "" "0000246328" "00025367" "10" "57" "0" "57" "0" "c.57T>C" "r.(?)" "p.(Phe19=)" "" "0000246328" "00009333" "10" "57" "0" "57" "0" "c.57T>C" "r.(?)" "p.(Phe19=)" "" "0000439050" "00009333" "70" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.Arg37Pro" "" "0000439094" "00009333" "90" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.Arg37Pro" "" "0000442733" "00009333" "90" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.Gln106*" "" "0000442734" "00009333" "90" "180" "0" "181" "0" "c.180_181del" "r.(?)" "p.Ser61Profs*8" "" "0000455025" "00025367" "90" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0000455026" "00025367" "90" "334" "0" "334" "0" "c.334C>A" "r.(?)" "p.(His112Asn)" "" "0000455027" "00025367" "90" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0000455028" "00025367" "90" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0000455029" "00025367" "90" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0000455030" "00025367" "90" "266" "0" "266" "0" "c.266G>T" "r.(?)" "p.(Gly89Val)" "" "0000455031" "00025367" "90" "266" "0" "266" "0" "c.266G>T" "r.(?)" "p.(Gly89Val)" "" "0000524133" "00025367" "30" "117" "0" "117" "0" "c.117T>C" "r.(?)" "p.(Leu39=)" "" "0000524133" "00009333" "30" "117" "0" "117" "0" "c.117T>C" "r.(?)" "p.(Leu39=)" "" "0000653525" "00025367" "70" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0000660261" "00025367" "90" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0000665799" "00025367" "70" "266" "0" "266" "0" "c.266G>T" "r.(?)" "p.(Gly89Val)" "" "0000720160" "00025367" "30" "112" "-3" "112" "-3" "c.112-3T>C" "r.spl?" "p.?" "" "0000720160" "00009333" "30" "112" "-3" "112" "-3" "c.112-3T>C" "r.spl?" "p.?" "" "0000788008" "00025367" "70" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0000815842" "00009333" "10" "1076" "-17" "1076" "-17" "c.1076-17C>T" "r.(?)" "p.(=)" "" "0000859746" "00025367" "30" "192" "0" "192" "0" "c.192T>C" "r.(?)" "p.(Ser64=)" "" "0000859746" "00009333" "30" "192" "0" "192" "0" "c.192T>C" "r.(?)" "p.(Ser64=)" "" "0000924234" "00025367" "30" "159" "0" "159" "0" "c.159G>A" "r.(?)" "p.(Leu53=)" "" "0000924234" "00009333" "30" "159" "0" "159" "0" "c.159G>A" "r.(?)" "p.(Leu53=)" "" "0000976533" "00025367" "50" "203" "0" "203" "0" "c.203A>T" "r.(?)" "p.(Asp68Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000036017" "0000063142" "0000036018" "0000063143" "0000050520" "0000079500" "0000208987" "0000439050" "0000209013" "0000439094" "0000211264" "0000442733" "0000211264" "0000442734" "0000220129" "0000455025" "0000220129" "0000455026" "0000220130" "0000455027" "0000220131" "0000455028" "0000220132" "0000455029" "0000220132" "0000455030" "0000220133" "0000455031" "0000296812" "0000653525" "0000297654" "0000660261" "0000302510" "0000665799" "0000376407" "0000788008" "0000387686" "0000815842"