### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = INTS1) # 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}}" "INTS1" "integrator complex subunit 1" "7" "p22.3" "unknown" "NC_000007.13" "UD_136017554179" "" "http://www.LOVD.nl/INTS1" "" "1" "24555" "26173" "611345" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/INTS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-07 12:47:39" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00010073" "INTS1" "integrator complex subunit 1" "001" "NM_001080453.2" "" "NP_001073922.2" "" "" "" "-101" "6873" "6573" "1544018" "1509913" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "06772" "NDCAGF" "Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies" "AR" "618571" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "INTS1" "06772" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00081356" "" "" "" "1" "" "00006" "Mancini, NVHG2016, {PMID:Oegema 2017:28542170}" "2-generation family, unaffected heterozygous carrier parents" "F" "no" "Netherlands" "" "0" "" "" "" "FamINTS1Pat1" "00081357" "" "" "" "1" "" "00006" "Mancini, NVHG2016, {PMID:Oegema 2017:28542170}" "2-generation family, unaffected heterozygous carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "FamINTS1Pat2" "00164989" "" "" "" "1" "" "00678" "{PMID:Krall 2019:30622326}, {DOI:Krall 2019:10.1038/s41431-018-0298-9}" "" "" "" "" "" "0" "" "" "" "family 1" "00164990" "" "" "" "2" "" "00678" "{PMID:Krall 2019:30622326}, {DOI:Krall 2019:10.1038/s41431-018-0298-9}" "" "" "" "" "" "0" "" "" "" "patients 3 and 4" "00164991" "" "" "" "1" "" "00678" "{PMID:Krall 2019:30622326}, {DOI:Krall 2019:10.1038/s41431-018-0298-9}" "" "" "" "" "" "0" "" "" "" "patient 5" "00229847" "" "" "" "1" "" "00006" "{PMID:Oegema 2017:28542170}" "2-generation family, unaffected heterozygous carrier parents" "M" "no" "Netherlands" "" "0" "" "" "" "FamINTS1Pat3" "00399246" "" "" "" "1" "" "00006" "{PMID:Martin 2017:29220673}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "" "" "0" "" "" "" "Pat5" "00448216" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "F" "" "Chile" "" "0" "" "" "" "Pat120" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00081356" "00139" "00081357" "00139" "00164989" "05162" "00164990" "05162" "00164991" "05162" "00229847" "00139" "00399246" "00139" "00448216" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05162, 06772 ## Count = 8 "{{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}}" "0000060919" "00139" "00081356" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormal gait, renal anomaly, distinctive facial features with hypertelorism, prominent forehead/glabella, broad nasal bridge, downward slanted eyelids, wide spaced incisors or cleft lip/palate, juvenile cataract, sternum abnormality, short stature, overlapping toes; severe global developmental delay (HP:0011344); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" "0000060920" "00139" "00081357" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormal gait, renal anomaly, distinctive facial features with hypertelorism, prominent forehead/glabella, broad nasal bridge, downward slanted eyelids, wide spaced incisors or cleft lip/palate, juvenile cataract, sternum abnormality, short stature, overlapping toes; severe global developmental delay (HP:0011344); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" "0000130122" "05162" "00164990" "00678" "Familial, autosomal recessive" "" "see paper; ..., gait with increased tone; developmental delays/autism; facial anomalies with wide-set eyes, downslanting palpebral fissures, a flat nasal bridge and micrognathia; cataracts" "" "" "" "" "" "" "" "" "" "" "" "0000130123" "05162" "00164991" "00678" "Familial, autosomal recessive" "" "see paper; ..., Failure to thrive with short stature; feeding difficulties and hypotonia in infancy; cataracts; frontal bossing; renal pelvicaliectasis; developmental delays" "" "" "" "" "" "" "" "" "" "" "" "0000130124" "05162" "00164989" "00678" "Familial, autosomal recessive" "" "see paper; ..., severe developmental delays with absent speech, cataracts and microphthalmia, facial anomalies with wide-set eyes, broad nasal bridge, down-turned corners of the mouth, pectus deformity and abnormal thumbs" "" "" "" "" "" "" "" "" "" "" "" "0000173009" "00139" "00229847" "00006" "Familial, autosomal recessive" "" "see paper; ..., profound intellectual disability, lack of speech development, motor impairment, seizures, specific dysmorphic features face and limbs" "" "" "" "" "" "" "" "" "" "" "" "0000292358" "00139" "00399246" "00006" "Isolated (sporadic)" "04y" "see paper; ..., prenatal period unremarkable, birth 40wweight 4,150 g (95P), length 53 cm (72P), OFC 36 cm (80P); neonatal unremarkable; no congenital anomalies; normal postnatal growth; mild to moderate developmental delay; speech single words, few two-word sentences; MRI brain normal; lack of distance toward adults, reduced interaction with other children, strong searching for physical contact, mood changes with aggressive behavior and attention deficits; muscle unremarkable; walking; no seizures; no craniofacial dysmorphism; EEG normal; hyporeflexia, simian crease on both hands" "" "" "" "" "" "" "" "" "NEDSGA" "intellectual disability" "" "0000337426" "00198" "00448216" "00006" "Familial, autosomal recessive" "12y" "intellectual disability-moderate; short stature; hyperbilirubinemia; acanthosis nigricans; precocious puberty; parental consanguinity" "" "" "" "" "" "" "" "" "" "rare disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081469" "00081356" "1" "00006" "00006" "2016-10-07 12:51:30" "" "" "SEQ" "DNA" "" "" "0000081470" "00081357" "1" "00006" "00006" "2016-10-07 12:57:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000165858" "00164989" "1" "00678" "00678" "2018-06-20 06:06:03" "" "" "SEQ-NG" "DNA" "" "" "0000165859" "00164990" "1" "00678" "00678" "2018-06-20 06:22:46" "" "" "SEQ-NG" "DNA" "Blood" "" "0000165860" "00164991" "1" "00678" "00678" "2018-06-20 06:37:41" "" "" "SEQ-NG" "DNA" "Blood" "" "0000230940" "00229847" "1" "00006" "00006" "2019-04-11 12:24:45" "" "" "SEQ" "DNA" "" "" "0000400490" "00399246" "1" "00006" "00006" "2022-01-17 18:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449791" "00448216" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000081469" "INTS1" "0000081470" "INTS1" "0000230940" "INTS1" ## 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 = 98 "{{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}}" "0000130609" "3" "90" "7" "1515892" "1515892" "subst" "0" "00006" "INTS1_000005" "g.1515892G>T" "" "Mancini, NVHG2016, {PMID:Oegema 2017:28542170}" "" "Ser1784*" "" "Germline" "" "" "0" "" "" "g.1476256G>T" "" "pathogenic" "" "0000130610" "3" "90" "7" "1515892" "1515892" "subst" "0" "00006" "INTS1_000005" "g.1515892G>T" "" "Mancini, NVHG2016, {PMID:Oegema 2017:28542170}" "" "Ser1784*" "" "Germline" "" "" "0" "" "" "g.1476256G>T" "" "pathogenic" "" "0000289660" "0" "50" "7" "1538733" "1538733" "subst" "4.12698E-6" "01943" "INTS1_000012" "g.1538733G>A" "" "" "" "INTS1(NM_001080453.3):c.1015C>T (p.R339W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1499097G>A" "" "VUS" "" "0000289661" "0" "30" "7" "1543576" "1543576" "subst" "0" "01943" "INTS1_000015" "g.1543576G>A" "" "" "" "INTS1(NM_001080453.3):c.21C>T (p.T7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1503940G>A" "" "likely benign" "" "0000289662" "0" "30" "7" "1524959" "1524959" "subst" "2.45325E-5" "01943" "INTS1_000009" "g.1524959G>A" "" "" "" "INTS1(NM_001080453.3):c.3123C>T (p.S1041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1485323G>A" "" "likely benign" "" "0000289663" "0" "30" "7" "1518389" "1518389" "subst" "3.24558E-5" "01943" "INTS1_000007" "g.1518389C>A" "" "" "" "INTS1(NM_001080453.3):c.4462G>T (p.A1488S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1478753C>A" "" "likely benign" "" "0000289664" "0" "30" "7" "1516465" "1516465" "subst" "8.16633E-6" "01943" "INTS1_000006" "g.1516465G>A" "" "" "" "INTS1(NM_001080453.3):c.5028C>T (p.C1676=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1476829G>A" "" "likely benign" "" "0000289665" "0" "90" "7" "1515892" "1515892" "subst" "0" "01943" "INTS1_000005" "g.1515892G>T" "" "" "" "INTS1(NM_001080453.2):c.5351C>A (p.(Ser1784*)), INTS1(NM_001080453.3):c.5351C>A (p.S1784*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1476256G>T" "" "pathogenic" "" "0000289666" "0" "10" "7" "1515602" "1515602" "subst" "0.0038135" "01943" "INTS1_000004" "g.1515602G>A" "" "" "" "INTS1(NM_001080453.3):c.5484C>T (p.A1828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1475966G>A" "" "benign" "" "0000331373" "0" "50" "7" "1514455" "1514455" "subst" "0" "01804" "INTS1_000003" "g.1514455C>T" "" "" "" "INTS1(NM_001080453.2):c.5522G>A (p.(Arg1841His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1474819C>T" "" "VUS" "" "0000331375" "0" "50" "7" "1526298" "1526298" "subst" "0" "01804" "INTS1_000010" "g.1526298C>G" "" "" "" "INTS1(NM_001080453.2):c.2939G>C (p.(Gly980Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1486662C>G" "" "VUS" "" "0000331376" "0" "50" "7" "1538116" "1538116" "subst" "0.000577738" "01804" "INTS1_000011" "g.1538116C>A" "" "" "" "INTS1(NM_001080453.2):c.1357G>T (p.(Ala453Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1498480C>A" "" "VUS" "" "0000331378" "0" "50" "7" "1542543" "1542543" "subst" "2.86465E-5" "01804" "INTS1_000014" "g.1542543T>C" "" "" "" "INTS1(NM_001080453.2):c.343A>G (p.(Ile115Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1502907T>C" "" "VUS" "" "0000369613" "21" "50" "7" "1542657" "1542657" "subst" "0.000227709" "00678" "INTS1_000017" "g.1542657G>A" "" "{PMID:Krall 2019:30622326}, {DOI:Krall 2019:10.1038/s41431-018-0298-9}" "" "" "" "Germline" "" "" "0" "" "" "g.1503021G>A" "" "VUS" "" "0000369614" "11" "70" "7" "1515689" "1515689" "dup" "0" "00678" "INTS1_000016" "g.1515689dup" "" "{PMID:Krall 2019:30622326}, {DOI:Krall 2019:10.1038/s41431-018-0298-9}" "" "5398_5399insC" "" "Germline" "" "" "0" "" "" "g.1476053dup" "" "likely pathogenic" "" "0000369615" "3" "70" "7" "1514356" "1514356" "subst" "0" "00678" "INTS1_000021" "g.1514356G>A" "" "{PMID:Krall 2019:30622326}, {DOI:Krall 2019:10.1038/s41431-018-0298-9}" "" "" "" "Germline" "" "" "0" "" "" "g.1474720G>A" "" "likely pathogenic" "" "0000369616" "3" "50" "7" "1519188" "1519188" "subst" "0.00131429" "00678" "INTS1_000022" "g.1519188C>T" "" "{PMID:Krall 2019:30622326}, {DOI:Krall 2019:10.1038/s41431-018-0298-9}" "" "" "" "Germline" "" "" "0" "" "" "g.1479552C>T" "" "VUS" "" "0000369617" "11" "50" "7" "1522197" "1522197" "subst" "2.054E-5" "00678" "INTS1_000018" "g.1522197G>A" "" "{PMID:Krall 2019:30622326}, {DOI:Krall 2019:10.1038/s41431-018-0298-9}" "" "" "" "Germline" "" "" "0" "" "" "g.1482561G>A" "" "VUS" "" "0000369618" "11" "70" "7" "1515956" "1515956" "del" "0" "00678" "INTS1_000020" "g.1515956del" "" "{PMID:Krall 2019:30622326}, {DOI:Krall 2019:10.1038/s41431-018-0298-9}" "" "5290_5291delC" "" "Germline" "" "" "0" "" "" "g.1476320del" "" "likely pathogenic" "" "0000369619" "21" "70" "7" "1510295" "1510295" "subst" "0" "00678" "INTS1_000019" "g.1510295A>G" "" "{PMID:Krall 2019:30622326}, {DOI:Krall 2019:10.1038/s41431-018-0298-9}" "" "" "" "Germline" "" "" "0" "" "" "g.1470659A>G" "" "likely pathogenic" "" "0000472634" "3" "90" "7" "1515892" "1515892" "subst" "0" "00006" "INTS1_000005" "g.1515892G>T" "" "{PMID:Oegema 2017:28542170}" "" "" "" "Germline" "" "" "0" "" "" "g.1476256G>T" "" "pathogenic" "" "0000531315" "0" "30" "7" "1510854" "1510854" "subst" "0.000484599" "01943" "INTS1_000023" "g.1510854G>A" "" "" "" "INTS1(NM_001080453.3):c.6262C>T (p.L2088=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1471218G>A" "" "likely benign" "" "0000531316" "0" "30" "7" "1511201" "1511201" "subst" "0.00505545" "01943" "INTS1_000024" "g.1511201G>A" "" "" "" "INTS1(NM_001080453.3):c.6255+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1471565G>A" "" "likely benign" "" "0000531346" "0" "30" "7" "1512731" "1512731" "subst" "2.46065E-5" "01943" "INTS1_000025" "g.1512731C>T" "" "" "" "INTS1(NM_001080453.3):c.6047G>A (p.R2016Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1473095C>T" "" "likely benign" "" "0000531406" "0" "30" "7" "1516095" "1516095" "dup" "0" "01943" "INTS1_000026" "g.1516095dup" "" "" "" "INTS1(NM_001080453.3):c.5152-4dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1476459dup" "" "likely benign" "" "0000531408" "0" "30" "7" "1518057" "1518057" "subst" "0.00112767" "01943" "INTS1_000027" "g.1518057G>A" "" "" "" "INTS1(NM_001080453.3):c.4575C>T (p.I1525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1478421G>A" "" "likely benign" "" "0000531409" "0" "30" "7" "1518072" "1518072" "subst" "0.000233278" "01943" "INTS1_000028" "g.1518072G>A" "" "" "" "INTS1(NM_001080453.3):c.4560C>T (p.T1520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1478436G>A" "" "likely benign" "" "0000531456" "0" "30" "7" "1524934" "1524934" "subst" "0.000541483" "01943" "INTS1_000029" "g.1524934G>A" "" "" "" "INTS1(NM_001080453.3):c.3148C>T (p.L1050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1485298G>A" "" "likely benign" "" "0000531457" "0" "10" "7" "1524970" "1524970" "subst" "0.000778423" "01943" "INTS1_000030" "g.1524970G>A" "" "" "" "INTS1(NM_001080453.3):c.3112C>T (p.L1038=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1485334G>A" "" "benign" "" "0000531459" "0" "30" "7" "1526609" "1526609" "subst" "0" "01943" "INTS1_000031" "g.1526609C>G" "" "" "" "INTS1(NM_001080453.3):c.2775G>C (p.G925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1486973C>G" "" "likely benign" "" "0000531460" "0" "30" "7" "1535085" "1535085" "subst" "0" "01943" "INTS1_000032" "g.1535085T>C" "" "" "" "INTS1(NM_001080453.3):c.1816A>G (p.K606E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1495449T>C" "" "likely benign" "" "0000531461" "0" "30" "7" "1535185" "1535185" "subst" "0.00226796" "01943" "INTS1_000033" "g.1535185C>T" "" "" "" "INTS1(NM_001080453.3):c.1716G>A (p.L572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1495549C>T" "" "likely benign" "" "0000531462" "0" "30" "7" "1535817" "1535817" "subst" "6.09607E-5" "01943" "INTS1_000034" "g.1535817G>A" "" "" "" "INTS1(NM_001080453.3):c.1686C>T (p.I562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1496181G>A" "" "likely benign" "" "0000531468" "0" "50" "7" "1538175" "1538175" "subst" "7.33174E-5" "01943" "INTS1_000035" "g.1538175G>A" "" "" "" "INTS1(NM_001080453.3):c.1298C>T (p.A433V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1498539G>A" "" "VUS" "" "0000531469" "0" "30" "7" "1539176" "1539176" "subst" "1.63397E-5" "01943" "INTS1_000036" "g.1539176G>A" "" "" "" "INTS1(NM_001080453.3):c.777C>T (p.T259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1499540G>A" "" "likely benign" "" "0000531470" "0" "10" "7" "1539218" "1539218" "subst" "0.00178782" "01943" "INTS1_000037" "g.1539218G>A" "" "" "" "INTS1(NM_001080453.3):c.735C>T (p.H245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1499582G>A" "" "benign" "" "0000531474" "0" "30" "7" "1542732" "1542732" "subst" "0.00271659" "01943" "INTS1_000038" "g.1542732C>T" "" "" "" "INTS1(NM_001080453.3):c.154G>A (p.G52S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1503096C>T" "" "likely benign" "" "0000531475" "0" "30" "7" "1543543" "1543543" "subst" "1.73414E-5" "01943" "INTS1_000039" "g.1543543G>A" "" "" "" "INTS1(NM_001080453.3):c.54C>T (p.P18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1503907G>A" "" "likely benign" "" "0000610964" "0" "30" "7" "1515593" "1515593" "subst" "6.77089E-5" "01943" "INTS1_000040" "g.1515593G>A" "" "" "" "INTS1(NM_001080453.3):c.5493C>T (p.S1831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1475957G>A" "" "likely benign" "" "0000655798" "0" "30" "7" "1529033" "1529033" "subst" "0" "01943" "INTS1_000042" "g.1529033A>G" "" "" "" "INTS1(NM_001080453.3):c.2265T>C (p.A755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1489397A>G" "" "likely benign" "" "0000689949" "0" "50" "7" "1510510" "1510510" "subst" "0" "01943" "INTS1_000043" "g.1510510G>T" "" "" "" "INTS1(NM_001080453.3):c.6429C>A (p.N2143K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689959" "0" "50" "7" "1520077" "1520077" "subst" "0.00282305" "01943" "INTS1_000044" "g.1520077T>C" "" "" "" "INTS1(NM_001080453.3):c.3950A>G (p.D1317G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689960" "0" "30" "7" "1523707" "1523707" "subst" "1.22393E-5" "01943" "INTS1_000045" "g.1523707A>C" "" "" "" "INTS1(NM_001080453.3):c.3361T>G (p.L1121V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721357" "0" "50" "7" "1511954" "1511954" "subst" "0.00044813" "01943" "INTS1_000046" "g.1511954T>C" "" "" "" "INTS1(NM_001080453.2):c.6139A>G (p.(Met2047Val)), INTS1(NM_001080453.3):c.6139A>G (p.M2047V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721365" "0" "70" "7" "1515873" "1515873" "subst" "0" "01943" "INTS1_000047" "g.1515873C>T" "" "" "" "INTS1(NM_001080453.3):c.5370G>A (p.W1790*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721366" "0" "30" "7" "1518027" "1518027" "subst" "4.0842E-6" "01943" "INTS1_000048" "g.1518027G>C" "" "" "" "INTS1(NM_001080453.3):c.4605C>G (p.S1535R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721377" "0" "50" "7" "1520975" "1520975" "subst" "8.14903E-6" "01943" "INTS1_000049" "g.1520975T>C" "" "" "" "INTS1(NM_001080453.3):c.3850+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721378" "0" "50" "7" "1525062" "1525064" "del" "0" "01943" "INTS1_000050" "g.1525062_1525064del" "" "" "" "INTS1(NM_001080453.3):c.3022_3024del (p.(Glu1008del)), INTS1(NM_001080453.3):c.3022_3024delGAG (p.E1008del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721379" "0" "50" "7" "1538413" "1538413" "subst" "0" "01943" "INTS1_000051" "g.1538413C>T" "" "" "" "INTS1(NM_001080453.3):c.1213G>A (p.V405I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721380" "0" "30" "7" "1539158" "1539158" "subst" "0.00150586" "01943" "INTS1_000052" "g.1539158G>A" "" "" "" "INTS1(NM_001080453.3):c.795C>T (p.S265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721381" "0" "30" "7" "1540010" "1540010" "subst" "0.00307821" "01943" "INTS1_000053" "g.1540010G>A" "" "" "" "INTS1(NM_001080453.3):c.350-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803003" "0" "50" "7" "1510817" "1510817" "subst" "0" "02325" "INTS1_000054" "g.1510817C>T" "" "" "" "INTS1(NM_001080453.3):c.6299G>A (p.R2100H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803004" "0" "50" "7" "1511214" "1511214" "subst" "0.000692651" "02325" "INTS1_000055" "g.1511214A>C" "" "" "" "INTS1(NM_001080453.3):c.6248T>G (p.F2083C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803010" "0" "50" "7" "1514353" "1514355" "dup" "0" "02327" "INTS1_000056" "g.1514353_1514355dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803031" "0" "50" "7" "1520023" "1520023" "subst" "0.000118679" "02325" "INTS1_000057" "g.1520023C>A" "" "" "" "INTS1(NM_001080453.3):c.4004G>T (p.G1335V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803032" "0" "30" "7" "1536798" "1536798" "subst" "0.000152672" "01943" "INTS1_000058" "g.1536798C>T" "" "" "" "INTS1(NM_001080453.3):c.1578G>A (p.P526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803041" "0" "50" "7" "1538390" "1538390" "subst" "0" "01943" "INTS1_000059" "g.1538390G>C" "" "" "" "INTS1(NM_001080453.3):c.1236C>G (p.I412M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803042" "0" "30" "7" "1538644" "1538644" "subst" "0" "01943" "INTS1_000060" "g.1538644C>T" "" "" "" "INTS1(NM_001080453.3):c.1104G>A (p.V368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803043" "0" "50" "7" "1538669" "1538669" "subst" "3.13257E-5" "02327" "INTS1_000061" "g.1538669T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803044" "0" "30" "7" "1538953" "1538953" "subst" "9.82914E-5" "01943" "INTS1_000062" "g.1538953C>T" "" "" "" "INTS1(NM_001080453.3):c.888G>A (p.Q296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803045" "0" "30" "7" "1539796" "1539796" "subst" "0" "01943" "INTS1_000063" "g.1539796C>T" "" "" "" "INTS1(NM_001080453.3):c.546+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803046" "0" "90" "7" "1542585" "1542585" "subst" "4.07907E-6" "02327" "INTS1_000064" "g.1542585G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000833396" "1" "70" "7" "1510791" "1510791" "subst" "0" "00006" "INTS1_000065" "g.1510791G>A" "" "{PMID:Martin 2017:29220673}" "" "" "" "Germline" "" "" "0" "" "" "g.1471155G>A" "" "VUS" "" "0000833397" "2" "50" "7" "1521087" "1521087" "subst" "0" "00006" "INTS1_000066" "g.1521087G>C" "" "{PMID:Martin 2017:29220673}" "" "" "" "Germline" "" "" "0" "" "" "g.1481451G>C" "" "VUS" "" "0000851525" "0" "30" "7" "1510281" "1510281" "subst" "0" "01943" "INTS1_000068" "g.1510281C>T" "" "" "" "INTS1(NM_001080453.3):c.6505G>A (p.G2169S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851546" "0" "30" "7" "1536852" "1536852" "subst" "0.00109591" "01943" "INTS1_000072" "g.1536852G>A" "" "" "" "INTS1(NM_001080453.3):c.1524C>T (p.H508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860690" "0" "30" "7" "1510255" "1510255" "subst" "8.34733E-5" "01943" "INTS1_000067" "g.1510255G>T" "" "" "" "INTS1(NM_001080453.3):c.6531C>A (p.I2177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860693" "0" "50" "7" "1512019" "1512019" "subst" "0" "01943" "INTS1_000069" "g.1512019T>C" "" "" "" "INTS1(NM_001080453.3):c.6074A>G (p.E2025G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860707" "0" "30" "7" "1519315" "1519315" "subst" "1.37901E-5" "01943" "INTS1_000070" "g.1519315G>A" "" "" "" "INTS1(NM_001080453.3):c.4080C>T (p.F1360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860708" "0" "30" "7" "1533502" "1533502" "subst" "8.87732E-5" "01943" "INTS1_000071" "g.1533502C>T" "" "" "" "INTS1(NM_001080453.3):c.1956G>A (p.T652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860710" "0" "30" "7" "1538414" "1538414" "subst" "0.000160842" "01943" "INTS1_000073" "g.1538414G>A" "" "" "" "INTS1(NM_001080453.3):c.1212C>T (p.D404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912696" "0" "90" "7" "1515892" "1515892" "subst" "0" "02327" "INTS1_000005" "g.1515892G>T" "" "" "" "INTS1(NM_001080453.2):c.5351C>A (p.(Ser1784*)), INTS1(NM_001080453.3):c.5351C>A (p.S1784*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912701" "0" "30" "7" "1520582" "1520583" "dup" "0" "02326" "INTS1_000074" "g.1520582_1520583dup" "" "" "" "INTS1(NM_001080453.3):c.3851-14_3851-13dupGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912705" "0" "50" "7" "1539241" "1539241" "subst" "4.90244E-5" "02327" "INTS1_000075" "g.1539241G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960274" "3" "50" "7" "1525072" "1525072" "subst" "4.08243E-5" "00006" "INTS1_000076" "g.1525072G>A" "" "{PMID:Poli 2024:38177409}" "" "" "" "Germline" "" "" "0" "" "" "g.1485436G>A" "" "VUS" "" "0000977628" "0" "50" "7" "1525062" "1525064" "del" "0" "01804" "INTS1_000050" "g.1525062_1525064del" "" "" "" "INTS1(NM_001080453.3):c.3022_3024del (p.(Glu1008del)), INTS1(NM_001080453.3):c.3022_3024delGAG (p.E1008del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977629" "0" "30" "7" "1527063" "1527063" "subst" "1.64508E-5" "01804" "INTS1_000077" "g.1527063G>C" "" "" "" "INTS1(NM_001080453.3):c.2539C>G (p.(Pro847Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996295" "0" "30" "7" "1510263" "1510263" "subst" "0.000117104" "01804" "INTS1_000078" "g.1510263C>T" "" "" "" "INTS1(NM_001080453.2):c.6523G>A (p.(Ala2175Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996296" "0" "30" "7" "1511954" "1511954" "subst" "0.00044813" "01804" "INTS1_000046" "g.1511954T>C" "" "" "" "INTS1(NM_001080453.2):c.6139A>G (p.(Met2047Val)), INTS1(NM_001080453.3):c.6139A>G (p.M2047V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996298" "0" "50" "7" "1512732" "1512732" "subst" "8.20297E-6" "01804" "INTS1_000079" "g.1512732G>A" "" "" "" "INTS1(NM_001080453.2):c.6046C>T (p.(Arg2016*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996302" "0" "50" "7" "1513869" "1513869" "subst" "3.43994E-5" "01804" "INTS1_000080" "g.1513869C>T" "" "" "" "INTS1(NM_001080453.2):c.5764G>A (p.(Val1922Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996303" "0" "70" "7" "1515892" "1515892" "subst" "0" "01804" "INTS1_000005" "g.1515892G>T" "" "" "" "INTS1(NM_001080453.2):c.5351C>A (p.(Ser1784*)), INTS1(NM_001080453.3):c.5351C>A (p.S1784*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000996304" "0" "30" "7" "1515988" "1515988" "subst" "0.00054263" "01804" "INTS1_000081" "g.1515988G>A" "" "" "" "INTS1(NM_001080453.2):c.5255C>T (p.(Thr1752Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996305" "0" "50" "7" "1518422" "1518422" "subst" "0" "01804" "INTS1_000082" "g.1518422G>C" "" "" "" "INTS1(NM_001080453.2):c.4429C>G (p.(Leu1477Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996358" "0" "30" "7" "1520020" "1520020" "subst" "2.04869E-5" "01804" "INTS1_000083" "g.1520020C>T" "" "" "" "INTS1(NM_001080453.2):c.4007G>A (p.(Arg1336Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996363" "0" "50" "7" "1525110" "1525110" "subst" "0.000425117" "01804" "INTS1_000084" "g.1525110G>A" "" "" "" "INTS1(NM_001080453.2):c.2977-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996364" "0" "30" "7" "1538972" "1538972" "subst" "4.40017E-5" "01804" "INTS1_000085" "g.1538972G>A" "" "" "" "INTS1(NM_001080453.2):c.869C>T (p.(Thr290Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036206" "0" "50" "7" "1511950" "1511950" "subst" "0" "01804" "INTS1_000086" "g.1511950G>A" "" "" "" "INTS1(NM_001080453.3):c.6143C>T (p.(Ala2048Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036207" "0" "50" "7" "1516524" "1516524" "subst" "6.97659E-5" "01804" "INTS1_000087" "g.1516524G>A" "" "" "" "INTS1(NM_001080453.3):c.4969C>T (p.(Arg1657Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036208" "0" "50" "7" "1517395" "1517395" "subst" "4.15169E-6" "01804" "INTS1_000088" "g.1517395C>T" "" "" "" "INTS1(NM_001080453.3):c.4808G>A (p.(Gly1603Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036269" "0" "50" "7" "1526709" "1526709" "subst" "0" "01804" "INTS1_000089" "g.1526709G>A" "" "" "" "INTS1(NM_001080453.3):c.2675C>T (p.(Ala892Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036270" "0" "30" "7" "1539106" "1539106" "subst" "0" "01804" "INTS1_000090" "g.1539106C>T" "" "" "" "INTS1(NM_001080453.3):c.844+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052561" "0" "30" "7" "1515983" "1515983" "subst" "0" "01804" "INTS1_000091" "g.1515983C>T" "" "" "" "INTS1(NM_001080453.3):c.5260G>A (p.(Ala1754Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052562" "0" "50" "7" "1517278" "1517278" "subst" "0" "01804" "INTS1_000092" "g.1517278C>T" "" "" "" "INTS1(NM_001080453.3):c.4846G>A (p.(Gly1616Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052563" "0" "30" "7" "1518117" "1518117" "subst" "3.7152E-5" "01804" "INTS1_000093" "g.1518117G>A" "" "" "" "INTS1(NM_001080453.3):c.4515C>T (p.(Ala1505=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052564" "0" "30" "7" "1520465" "1520465" "subst" "8.79162E-5" "01804" "INTS1_000094" "g.1520465C>A" "" "" "" "INTS1(NM_001080453.3):c.3949+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052565" "0" "50" "7" "1520975" "1520975" "subst" "8.14903E-6" "01804" "INTS1_000049" "g.1520975T>C" "" "" "" "INTS1(NM_001080453.3):c.3850+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052566" "0" "50" "7" "1527531" "1527531" "subst" "0" "01804" "INTS1_000095" "g.1527531C>T" "" "" "" "INTS1(NM_001080453.3):c.2381G>A (p.(Arg794His))" "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 INTS1 ## Count = 98 "{{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}}" "0000130609" "00010073" "90" "5351" "0" "5351" "0" "c.5351C>A" "r.(?)" "p.(Ser1784*)" "38" "0000130610" "00010073" "90" "5351" "0" "5351" "0" "c.5351C>A" "r.(?)" "p.(Ser1784*)" "38" "0000289660" "00010073" "50" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Trp)" "" "0000289661" "00010073" "30" "21" "0" "21" "0" "c.21C>T" "r.(?)" "p.(Thr7=)" "" "0000289662" "00010073" "30" "3123" "0" "3123" "0" "c.3123C>T" "r.(?)" "p.(Ser1041=)" "" "0000289663" "00010073" "30" "4462" "0" "4462" "0" "c.4462G>T" "r.(?)" "p.(Ala1488Ser)" "" "0000289664" "00010073" "30" "5028" "0" "5028" "0" "c.5028C>T" "r.(?)" "p.(Cys1676=)" "" "0000289665" "00010073" "90" "5351" "0" "5351" "0" "c.5351C>A" "r.(?)" "p.(Ser1784Ter)" "" "0000289666" "00010073" "10" "5484" "0" "5484" "0" "c.5484C>T" "r.(?)" "p.(Ala1828=)" "" "0000331373" "00010073" "50" "5522" "0" "5522" "0" "c.5522G>A" "r.(?)" "p.(Arg1841His)" "" "0000331375" "00010073" "50" "2939" "0" "2939" "0" "c.2939G>C" "r.(?)" "p.(Gly980Ala)" "" "0000331376" "00010073" "50" "1357" "0" "1357" "0" "c.1357G>T" "r.(?)" "p.(Ala453Ser)" "" "0000331378" "00010073" "50" "343" "0" "343" "0" "c.343A>G" "r.(?)" "p.(Ile115Val)" "" "0000369613" "00010073" "50" "229" "0" "229" "0" "c.229C>T" "r.(229c>u)" "p.(Arg77Cys)" "3" "0000369614" "00010073" "70" "5398" "0" "5398" "0" "c.5398dup" "r.(?)" "p.(Arg1800Profs*20)" "39" "0000369615" "00010073" "70" "5621" "0" "5621" "0" "c.5621C>T" "r.(5621c>u)" "p.(Pro1874Leu)" "40" "0000369616" "00010073" "50" "4207" "0" "4207" "0" "c.4207G>A" "r.(4207g>a)" "p.(Val1403Met)" "31" "0000369617" "00010073" "50" "3688" "0" "3688" "0" "c.3688C>T" "r.(3588c>u)" "p.(Arg1230Cys)" "27" "0000369618" "00010073" "70" "5290" "0" "5290" "0" "c.5290del" "r.(?)" "p.(Leu1764Cysfs*16)" "38" "0000369619" "00010073" "70" "6491" "0" "6491" "0" "c.6491T>C" "r.(6491u>c)" "p.(Leu2164Pro)" "48" "0000472634" "00010073" "90" "5351" "0" "5351" "0" "c.5351C>A" "r.(?)" "p.(Ser1784*)" "38" "0000531315" "00010073" "30" "6262" "0" "6262" "0" "c.6262C>T" "r.(?)" "p.(Leu2088=)" "" "0000531316" "00010073" "30" "6255" "6" "6255" "6" "c.6255+6C>T" "r.(=)" "p.(=)" "" "0000531346" "00010073" "30" "6047" "0" "6047" "0" "c.6047G>A" "r.(?)" "p.(Arg2016Gln)" "" "0000531406" "00010073" "30" "5152" "-4" "5152" "-4" "c.5152-4dup" "r.spl?" "p.?" "" "0000531408" "00010073" "30" "4575" "0" "4575" "0" "c.4575C>T" "r.(?)" "p.(Ile1525=)" "" "0000531409" "00010073" "30" "4560" "0" "4560" "0" "c.4560C>T" "r.(?)" "p.(Thr1520=)" "" "0000531456" "00010073" "30" "3148" "0" "3148" "0" "c.3148C>T" "r.(?)" "p.(Leu1050=)" "" "0000531457" "00010073" "10" "3112" "0" "3112" "0" "c.3112C>T" "r.(?)" "p.(Leu1038=)" "" "0000531459" "00010073" "30" "2775" "0" "2775" "0" "c.2775G>C" "r.(?)" "p.(Gly925=)" "" "0000531460" "00010073" "30" "1816" "0" "1816" "0" "c.1816A>G" "r.(?)" "p.(Lys606Glu)" "" "0000531461" "00010073" "30" "1716" "0" "1716" "0" "c.1716G>A" "r.(?)" "p.(Leu572=)" "" "0000531462" "00010073" "30" "1686" "0" "1686" "0" "c.1686C>T" "r.(?)" "p.(Ile562=)" "" "0000531468" "00010073" "50" "1298" "0" "1298" "0" "c.1298C>T" "r.(?)" "p.(Ala433Val)" "" "0000531469" "00010073" "30" "777" "0" "777" "0" "c.777C>T" "r.(?)" "p.(Thr259=)" "" "0000531470" "00010073" "10" "735" "0" "735" "0" "c.735C>T" "r.(?)" "p.(His245=)" "" "0000531474" "00010073" "30" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Gly52Ser)" "" "0000531475" "00010073" "30" "54" "0" "54" "0" "c.54C>T" "r.(?)" "p.(Pro18=)" "" "0000610964" "00010073" "30" "5493" "0" "5493" "0" "c.5493C>T" "r.(?)" "p.(Ser1831=)" "" "0000655798" "00010073" "30" "2265" "0" "2265" "0" "c.2265T>C" "r.(?)" "p.(Ala755=)" "" "0000689949" "00010073" "50" "6429" "0" "6429" "0" "c.6429C>A" "r.(?)" "p.(Asn2143Lys)" "" "0000689959" "00010073" "50" "3950" "0" "3950" "0" "c.3950A>G" "r.(?)" "p.(Asp1317Gly)" "" "0000689960" "00010073" "30" "3361" "0" "3361" "0" "c.3361T>G" "r.(?)" "p.(Leu1121Val)" "" "0000721357" "00010073" "50" "6139" "0" "6139" "0" "c.6139A>G" "r.(?)" "p.(Met2047Val)" "" "0000721365" "00010073" "70" "5370" "0" "5370" "0" "c.5370G>A" "r.(?)" "p.(Trp1790*)" "" "0000721366" "00010073" "30" "4605" "0" "4605" "0" "c.4605C>G" "r.(?)" "p.(Ser1535Arg)" "" "0000721377" "00010073" "50" "3850" "3" "3850" "3" "c.3850+3A>G" "r.spl?" "p.?" "" "0000721378" "00010073" "50" "3022" "0" "3024" "0" "c.3022_3024del" "r.(?)" "p.(Glu1008del)" "" "0000721379" "00010073" "50" "1213" "0" "1213" "0" "c.1213G>A" "r.(?)" "p.(Val405Ile)" "" "0000721380" "00010073" "30" "795" "0" "795" "0" "c.795C>T" "r.(?)" "p.(Ser265=)" "" "0000721381" "00010073" "30" "350" "-8" "350" "-8" "c.350-8C>T" "r.(=)" "p.(=)" "" "0000803003" "00010073" "50" "6299" "0" "6299" "0" "c.6299G>A" "r.(?)" "p.(Arg2100His)" "" "0000803004" "00010073" "50" "6248" "0" "6248" "0" "c.6248T>G" "r.(?)" "p.(Phe2083Cys)" "" "0000803010" "00010073" "50" "5631" "0" "5633" "0" "c.5631_5633dup" "r.(?)" "p.(Leu1878dup)" "" "0000803031" "00010073" "50" "4004" "0" "4004" "0" "c.4004G>T" "r.(?)" "p.(Gly1335Val)" "" "0000803032" "00010073" "30" "1578" "0" "1578" "0" "c.1578G>A" "r.(?)" "p.(Pro526=)" "" "0000803041" "00010073" "50" "1236" "0" "1236" "0" "c.1236C>G" "r.(?)" "p.(Ile412Met)" "" "0000803042" "00010073" "30" "1104" "0" "1104" "0" "c.1104G>A" "r.(?)" "p.(Val368=)" "" "0000803043" "00010073" "50" "1079" "0" "1079" "0" "c.1079A>G" "r.(?)" "p.(Tyr360Cys)" "" "0000803044" "00010073" "30" "888" "0" "888" "0" "c.888G>A" "r.(?)" "p.(Gln296=)" "" "0000803045" "00010073" "30" "546" "10" "546" "10" "c.546+10G>A" "r.(=)" "p.(=)" "" "0000803046" "00010073" "90" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "" "0000833396" "00010073" "70" "6325" "0" "6325" "0" "c.6325C>T" "r.(?)" "p.(Arg2109Cys)" "" "0000833397" "00010073" "50" "3741" "0" "3741" "0" "c.3741C>G" "r.(?)" "p.(Phe1247Leu)" "" "0000851525" "00010073" "30" "6505" "0" "6505" "0" "c.6505G>A" "r.(?)" "p.(Gly2169Ser)" "" "0000851546" "00010073" "30" "1524" "0" "1524" "0" "c.1524C>T" "r.(?)" "p.(His508=)" "" "0000860690" "00010073" "30" "6531" "0" "6531" "0" "c.6531C>A" "r.(?)" "p.(Ile2177=)" "" "0000860693" "00010073" "50" "6074" "0" "6074" "0" "c.6074A>G" "r.(?)" "p.(Glu2025Gly)" "" "0000860707" "00010073" "30" "4080" "0" "4080" "0" "c.4080C>T" "r.(?)" "p.(Phe1360=)" "" "0000860708" "00010073" "30" "1956" "0" "1956" "0" "c.1956G>A" "r.(?)" "p.(Thr652=)" "" "0000860710" "00010073" "30" "1212" "0" "1212" "0" "c.1212C>T" "r.(?)" "p.(Asp404=)" "" "0000912696" "00010073" "90" "5351" "0" "5351" "0" "c.5351C>A" "r.(?)" "p.(Ser1784Ter)" "" "0000912701" "00010073" "30" "3851" "-14" "3851" "-13" "c.3851-14_3851-13dup" "r.(=)" "p.(=)" "" "0000912705" "00010073" "50" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Arg238Trp)" "" "0000960274" "00010073" "50" "3010" "0" "3010" "0" "c.3010C>T" "r.(?)" "p.(Arg1004Trp)" "" "0000977628" "00010073" "50" "3022" "0" "3024" "0" "c.3022_3024del" "r.(?)" "p.(Glu1008del)" "" "0000977629" "00010073" "30" "2539" "0" "2539" "0" "c.2539C>G" "r.(?)" "p.(Pro847Ala)" "" "0000996295" "00010073" "30" "6523" "0" "6523" "0" "c.6523G>A" "r.(?)" "p.(Ala2175Thr)" "" "0000996296" "00010073" "30" "6139" "0" "6139" "0" "c.6139A>G" "r.(?)" "p.(Met2047Val)" "" "0000996298" "00010073" "50" "6046" "0" "6046" "0" "c.6046C>T" "r.(?)" "p.(Arg2016*)" "" "0000996302" "00010073" "50" "5764" "0" "5764" "0" "c.5764G>A" "r.(?)" "p.(Val1922Met)" "" "0000996303" "00010073" "70" "5351" "0" "5351" "0" "c.5351C>A" "r.(?)" "p.(Ser1784Ter)" "" "0000996304" "00010073" "30" "5255" "0" "5255" "0" "c.5255C>T" "r.(?)" "p.(Thr1752Ile)" "" "0000996305" "00010073" "50" "4429" "0" "4429" "0" "c.4429C>G" "r.(?)" "p.(Leu1477Val)" "" "0000996358" "00010073" "30" "4007" "0" "4007" "0" "c.4007G>A" "r.(?)" "p.(Arg1336Gln)" "" "0000996363" "00010073" "50" "2977" "-5" "2977" "-5" "c.2977-5C>T" "r.spl?" "p.?" "" "0000996364" "00010073" "30" "869" "0" "869" "0" "c.869C>T" "r.(?)" "p.(Thr290Met)" "" "0001036206" "00010073" "50" "6143" "0" "6143" "0" "c.6143C>T" "r.(?)" "p.(Ala2048Val)" "" "0001036207" "00010073" "50" "4969" "0" "4969" "0" "c.4969C>T" "r.(?)" "p.(Arg1657Cys)" "" "0001036208" "00010073" "50" "4808" "0" "4808" "0" "c.4808G>A" "r.(?)" "p.(Gly1603Asp)" "" "0001036269" "00010073" "50" "2675" "0" "2675" "0" "c.2675C>T" "r.(?)" "p.(Ala892Val)" "" "0001036270" "00010073" "30" "844" "3" "844" "3" "c.844+3G>A" "r.spl?" "p.?" "" "0001052561" "00010073" "30" "5260" "0" "5260" "0" "c.5260G>A" "r.(?)" "p.(Ala1754Thr)" "" "0001052562" "00010073" "50" "4846" "0" "4846" "0" "c.4846G>A" "r.(?)" "p.(Gly1616Ser)" "" "0001052563" "00010073" "30" "4515" "0" "4515" "0" "c.4515C>T" "r.(?)" "p.(=)" "" "0001052564" "00010073" "30" "3949" "6" "3949" "6" "c.3949+6G>T" "r.(=)" "p.(=)" "" "0001052565" "00010073" "50" "3850" "3" "3850" "3" "c.3850+3A>G" "r.spl?" "p.?" "" "0001052566" "00010073" "50" "2381" "0" "2381" "0" "c.2381G>A" "r.(?)" "p.(Arg794His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000081469" "0000130609" "0000081470" "0000130610" "0000165858" "0000369613" "0000165858" "0000369614" "0000165859" "0000369615" "0000165859" "0000369616" "0000165860" "0000369617" "0000165860" "0000369618" "0000165860" "0000369619" "0000230940" "0000472634" "0000400490" "0000833396" "0000400490" "0000833397" "0000449791" "0000960274"