### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CHRNG) # 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}}" "CHRNG" "cholinergic receptor, nicotinic, gamma (muscle)" "2" "q37.1" "unknown" "NG_012954.1" "UD_132118320990" "" "https://www.LOVD.nl/CHRNG" "" "1" "1967" "1146" "100730" "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/CHRNG_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-06-12 00:00:00" "00006" "2017-09-04 09:49:17" "00000" "2025-05-05 21:14:00" ## 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}}" "00005155" "CHRNG" "cholinergic receptor, nicotinic, gamma" "001" "NM_005199.4" "" "NP_005190.4" "" "" "" "-21" "2166" "1554" "233404437" "233411038" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00026" "arthrogryposis" "arthrogryposis" "" "" "" "" "" "00001" "2012-08-03 16:49:36" "00006" "2019-01-04 15:23:51" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00385" "DA" "arthrogryposis, distal (DA)" "" "" "" "" "" "00006" "2014-05-27 12:44:13" "00006" "2015-12-08 23:59:30" "00572" "LMPS" "multiple pterygium syndrome, lethal type (LMPS )" "AR" "253290" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00875" "EVMPS" "pterygium syndrome, multiple, Escobar type (EVMPS)" "AR" "265000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01666" "FADS" "akinesia, fetal, deformation sequence (FADS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-27 12:54:08" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CHRNG" "00572" "CHRNG" "00875" ## Individuals ## Do not remove or alter this header ## ## Count = 49 "{{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}}" "00035244" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035245" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00117822" "" "" "" "1" "" "00006" "{PMID:Hoffmann 2006:16826520}" "" "" "" "Oman" "" "0" "" "" "" "" "00117823" "" "" "" "1" "" "00006" "{PMID:Vogt 2011:22167768}" "" "" "" "" "" "0" "" "" "" "" "00117824" "" "" "" "1" "" "00006" "{PMID:Vogt 2011:22167768}" "" "" "" "Ireland" "" "0" "" "" "Irish" "" "00117825" "" "" "" "1" "" "00006" "Unpublished. For further information contact: julie.vogt@bwhct.nhs.uk" "" "" "" "Brazil" "" "0" "" "" "" "" "00117826" "" "" "" "1" "" "00006" "{PMID:Morgan 2006:16826531}" "Affected relative infant death - diaphragmatic eventration" "" "" "Pakistan" "" "0" "" "" "Pakistani" "" "00117827" "" "" "" "1" "" "00006" "{PMID:Vogt 2011:22167768}" "" "" "" "" "" "0" "" "" "" "" "00117828" "" "" "" "1" "" "00006" "{PMID:Hoffmann 2006:16826520}" "" "" "" "Switzerland" "" "0" "" "" "" "" "00117829" "" "" "" "1" "" "00006" "Unpublished. For further information contact julie.vogt@bwhct.nhs.uk" "" "" "" "" "" "0" "" "" "(Spanish / Portuguese ancestry)" "" "00117830" "" "" "" "1" "" "00006" "{PMID:Hoffmann 2006:16826520}" "One affected infant death - diaphragmatic eventration" "" "" "Germany" "" "0" "" "" "" "" "00117831" "" "" "" "1" "" "00006" "{PMID:Morgan 2006:16826531}" "Multiple Pterygium Syndrome: nonlethal and lethal" "" "" "" "" "0" "" "" "Arab" "" "00117832" "" "" "" "1" "" "00006" "{PMID:Morgan 2006:16826531}" "" "" "" "Pakistan" "" "0" "" "" "Pakistani" "" "00117833" "" "" "" "1" "" "00006" "Unpublished. For further information contact julie.vogt@bwhct.nhs.uk" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00117834" "" "" "" "1" "" "00006" "{PMID:Vogt 2011:22167768}" "" "" "" "" "" "0" "" "" "White" "" "00117835" "" "" "" "1" "" "00006" "{PMID:Vogt 2011:22167768}" "" "" "" "" "" "0" "" "" "White Mixed (South American ancestry)" "" "00117836" "" "" "" "1" "" "00006" "{PMID:Morgan 2006:16826531}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "White UK" "" "00117837" "" "" "" "1" "" "00006" "{PMID:Vogt 2011:22167768}" "" "" "" "" "" "0" "" "" "" "" "00117838" "" "" "" "1" "" "00006" "{PMID:Vogt 2011:22167768}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "White UK" "" "00117839" "" "" "" "1" "" "00006" "{PMID:Morgan 2006:16826531}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "White UK" "" "00117840" "" "" "" "1" "" "00006" "{PMID:Vogt 2011:22167768}" "" "" "" "" "" "0" "" "" "White" "" "00117841" "" "" "" "1" "" "00006" "{PMID:Vogt 2011:22167768}" "" "" "" "" "" "0" "" "" "" "" "00117842" "" "" "" "1" "" "00006" "{PMID:Hoffmann 2006:16826520}" "Multiple Pterygium Syndrome: nonlethal and lethal" "" "" "Lebanon" "" "0" "" "" "" "" "00117843" "" "" "" "1" "" "00006" "{PMID:Hoffmann 2006:16826520}" "" "" "" "Turkey" "" "0" "" "" "" "" "00117844" "" "" "" "1" "" "00006" "{PMID:Morgan 2006:16826531}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00117845" "" "" "" "1" "" "00006" "Unpublished. For further information contact julie.vogt@bwhct.nhs.uk" "" "" "" "" "" "0" "" "" "" "" "00117846" "" "" "" "1" "" "00006" "{PMID:Hoffmann 2006:16826520}" "" "" "" "Lebanon" "" "0" "" "" "" "" "00117847" "" "" "" "1" "" "02091" "" "" "M" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00117848" "" "" "" "1" "" "00006" "{PMID:Hoffmann 2006:16826520}" "One affected deceased, cause unspecified." "" "" "Lebanon" "" "0" "" "" "" "" "00117849" "" "" "" "1" "" "00006" "Unpublished. For further information contact: julie.vogt@bwhct.nhs.uk" "" "" "" "Somalia" "" "0" "" "" "Somalian" "" "00117850" "" "" "" "1" "" "00006" "{PMID:Vogt 2011:22167768}" "" "" "" "Algeria" "" "0" "" "" "Algerian" "" "00117851" "" "" "" "1" "" "00006" "Unpublished. For further information contact julie.vogt@bwhct.nhs.uk" "" "" "" "" "" "0" "" "" "" "" "00163650" "" "" "" "1" "" "02440" "" "Fetus, TOP 24th GW" "F" "no" "Germany" "" "0" "yes" "none" "" "" "00208753" "" "" "" "3" "" "00006" "{PMID:Sher 2018:30461311}" "3-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "30461311-Fam" "00248337" "" "" "" "1" "" "00006" "{PMID:Todd 2015:26578207}" "" "" "" "" "" "0" "" "" "" "Fam15" "00292640" "" "" "" "185" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292641" "" "" "" "58" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300249" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00304797" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304798" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307181" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D13-1032" "00307195" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D16-0928" "00307200" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D16-0492" "00307231" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D18-0294" "00388639" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "M" "" "India" "" "0" "" "" "India" "Pat85" "00399073" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P148" "00408102" "" "" "" "1" "" "00000" "{PMID:Alabdullatif 2017:27717089}" "" "F" "yes" "United Arab Emirates" "" "0" "" "" "" "207" "00419609" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9050" "00435326" "" "" "" "1" "" "01164" "" "" "F" "likely" "Turkey" "" "0" "" "" "" "262473" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 48 "{{individualid}}" "{{diseaseid}}" "00035245" "00198" "00117822" "00875" "00117823" "00875" "00117824" "00875" "00117825" "00875" "00117826" "00875" "00117827" "00875" "00117828" "00572" "00117829" "00875" "00117830" "00875" "00117831" "00572" "00117832" "00875" "00117833" "00572" "00117834" "00572" "00117835" "00875" "00117836" "00875" "00117837" "00875" "00117838" "00875" "00117839" "00572" "00117840" "00572" "00117841" "00875" "00117842" "00572" "00117843" "00572" "00117844" "00572" "00117845" "00875" "00117846" "00875" "00117847" "00875" "00117848" "00875" "00117849" "00875" "00117850" "00572" "00117851" "00572" "00163650" "00026" "00208753" "00875" "00248337" "05618" "00292640" "00198" "00292641" "00198" "00300249" "00198" "00304797" "00198" "00304798" "00198" "00307181" "01666" "00307195" "00385" "00307200" "00385" "00307231" "01666" "00388639" "00244" "00399073" "05618" "00408102" "04214" "00419609" "00198" "00435326" "00875" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00026, 00198, 00244, 00385, 00572, 00875, 01666, 04214, 05618 ## Count = 44 "{{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}}" "0000093210" "00875" "00117822" "00006" "Unknown" "" "Multiple Pterygium Syndrome - Escobar Variant" "" "" "" "" "" "" "" "" "" "" "" "0000093211" "00875" "00117823" "00006" "Familial, autosomal recessive" "" "Multiple Pterygium Syndrome - Escobar Variant" "" "" "" "" "" "" "" "" "" "" "" "0000093212" "00875" "00117824" "00006" "Familial, autosomal recessive" "" "Multiple Pterygium Syndrome - Escobar Variant" "" "" "" "" "" "" "" "" "" "" "" "0000093213" "00875" "00117825" "00006" "Unknown" "" "Multiple Pterygium Syndrome - Escobar Variant" "" "" "" "" "" "" "" "" "" "" "" "0000093214" "00875" "00117826" "00006" "Unknown" "" "Multiple Pterygium Syndrome - Escobar Variant" "" "" "" "" "" "" "" "" "" "" "" "0000093215" "00875" "00117827" "00006" "Familial, autosomal recessive" "" "Multiple Pterygium Syndrome - Escobar Variant" "" "" "" "" "" "" "" "" "" "" "" "0000093216" "00572" "00117828" "00006" "Unknown" "" "Multiple Pterygium Syndrome - Lethal Type" "" "" "" "" "" "" "" "" "" "" "" "0000093217" "00875" "00117829" "00006" "Unknown" "" "Multiple Pterygium Syndrome - Escobar Variant" "" "" "" "" "" "" "" "" "" "" "" "0000093218" "00875" "00117830" "00006" "Unknown" "" "Multiple Pterygium Syndrome - Escobar Variant" "" "" "" "" "" "" "" "" "" "" "" "0000093219" "00572" "00117831" "00006" "Unknown" "" "Multiple Pterygium Syndrome: nonlethal and lethal" "" "" "" "" "" "" "" "" "" "" "" "0000093220" "00875" "00117832" "00006" "Unknown" "" "Multiple Pterygium Syndrome - Escobar Variant" "" "" "" "" "" "" "" "" "" "" "" "0000093221" "00572" "00117833" "00006" "Unknown" "" "Multiple Pterygium Syndrome - Lethal Type" "" "" "" "" "" "" "" "" "" "" "" "0000093222" "00572" "00117834" "00006" "Familial, autosomal recessive" "" "Multiple Pterygium Syndrome - Lethal Type" "" "" "" "" "" "" "" "" "" "" "" "0000093223" "00875" "00117835" "00006" "Familial, autosomal recessive" "" "Multiple Pterygium Syndrome - Escobar Variant" "" "" "" "" "" "" "" "" "" "" "" "0000093224" "00875" "00117836" "00006" "Unknown" "" "Multiple Pterygium Syndrome - Escobar Variant" "" "" "" "" "" "" "" "" "" "" "" "0000093225" "00875" "00117837" "00006" "Familial, autosomal recessive" "" "Multiple Pterygium Syndrome - Escobar Variant" "" "" "" "" "" "" "" "" "" "" "" "0000093226" "00875" "00117838" "00006" "Familial, autosomal recessive" "" "Multiple Pterygium Syndrome - Escobar Variant" "" "" "" "" "" "" "" "" "" "" "" "0000093227" "00572" "00117839" "00006" "Unknown" "" "Multiple Pterygium Syndrome - Lethal Type" "" "" "" "" "" "" "" "" "" "" "" "0000093228" "00572" "00117840" "00006" "Familial, autosomal recessive" "" "Multiple Pterygium Syndrome - Lethal Type" "" "" "" "" "" "" "" "" "" "" "" "0000093229" "00875" "00117841" "00006" "Familial, autosomal recessive" "" "Multiple Pterygium Syndrome - Escobar Variant" "" "" "" "" "" "" "" "" "" "" "" "0000093230" "00572" "00117842" "00006" "Unknown" "" "Multiple Pterygium Syndrome: nonlethal and lethal" "" "" "" "" "" "" "" "" "" "" "" "0000093231" "00572" "00117843" "00006" "Unknown" "" "Multiple Pterygium Syndrome - Lethal Type" "" "" "" "" "" "" "" "" "" "" "" "0000093232" "00572" "00117844" "00006" "Unknown" "" "Multiple Pterygium Syndrome - Lethal Type" "" "" "" "" "" "" "" "" "" "" "" "0000093233" "00875" "00117845" "00006" "Unknown" "" "Multiple Pterygium Syndrome - Escobar Variant" "" "" "" "" "" "" "" "" "" "" "" "0000093234" "00875" "00117846" "00006" "Unknown" "" "Multiple Pterygium Syndrome - Escobar Variant" "" "" "" "" "" "" "" "" "" "" "" "0000093235" "00875" "00117847" "02091" "Familial, autosomal recessive" "12y" "multiple pterygium syndrome, Escobar variant; EVMPS" "" "" "" "" "" "" "" "" "" "" "" "0000093236" "00875" "00117848" "00006" "Unknown" "" "Multiple Pterygium Syndrome - Escobar Variant" "" "" "" "" "" "" "" "" "" "" "" "0000093237" "00875" "00117849" "00006" "Unknown" "" "Multiple Pterygium Syndrome - Escobar Variant" "" "" "" "" "" "" "" "" "" "" "" "0000093238" "00572" "00117850" "00006" "Familial, autosomal recessive" "" "Multiple Pterygium Syndrome - Lethal Type" "" "" "" "" "" "" "" "" "" "" "" "0000093239" "00572" "00117851" "00006" "Unknown" "" "Multiple Pterygium Syndrome - Lethal Type" "" "" "" "" "" "" "" "" "" "" "" "0000128786" "00026" "00163650" "02440" "Familial, autosomal recessive" "" "Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347)" "" "" "" "" "" "" "" "" "Multiple pterygium syndrome, lethal type" "Fetal akinesia deformation sequence" "" "0000156078" "00198" "00035245" "01164" "Familial" "" "familiar Escobar syndrome; daughter: Escobar syndrome-affection;parents are cousins; MGZ #62984: DD hereditary neuropathy, multifokale sensomotorische demyelinisierende axonale PNP," "" "" "" "" "" "" "" "" "" "Escobar syndrome" "" "0000157371" "00875" "00208753" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000187334" "05618" "00248337" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000227551" "00198" "00300249" "01164" "Unknown" "" "Cryptorchidism (HP:0000028); Abnormality of the face (HP:0000271); Limb joint contracture (HP:0003121); Abnormality of the skeletal system (HP:0000924); Short stature (HP:0004322); Short neck (HP:0000470); Rocker bottom foot (HP:0001838); Abnormality of the musculature (HP:0003011)" "" "" "" "" "" "" "" "" "" "" "" "0000232986" "01666" "00307181" "00534" "Familial, autosomal recessive" "" "arthrogryposis multiplex congenita; pretibial dimple" "" "" "" "" "" "" "" "" "" "fetal akinesia deformation sequence" "" "0000233000" "00385" "00307195" "00534" "Familial, autosomal recessive" "" "distal arthrogryposis" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233005" "00385" "00307200" "00534" "Familial, autosomal recessive" "" "distal arthrogryposis; autosomal recessive inheritance" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233036" "01666" "00307231" "00534" "Familial, autosomal recessive" "" "antenatal onset; distal arthrogryposis" "" "" "" "" "" "" "" "" "" "fetal akinesia deformation sequence" "" "0000282179" "00244" "00388639" "00006" "Familial, autosomal recessive" "27y" "distal muscle weakness, proximal muscle weakness; CK level 587 IU/L; Rimmed vacuoles in muscle biopsies histochemistry; tripping on small objects, foot drop and sparing of quadriceps; most-affected muscles: Tibialis anterior, iliopsoas, adductors of thigh, hamstrings, and biceps brachi and first dorsal interosseous muscles; no cardiac involvement; 27y-ambulant" "23y" "" "" "" "" "" "" "" "" "" "" "0000292161" "05618" "00399073" "00006" "Unknown" "" "serum CK <200 U/L; muscle biopsy myopathic changes; arthrogryposis multiplex congenital" "<0d" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000300230" "04214" "00408102" "00000" "Familial, autosomal recessive" "8m" "8 months old female infant was born at term via C-section due to breach presentation. Prenatally, reduced fetal movement and oligohydramnios were reported. At birth she was found to have overlapping fingers, rocker bottom feet, bilateral hip dislocation, and multiple joint contractures including hands, feet, elbows, knees, and hips. She also had developmental delay, atrial septal defect, and thin corpus callosum on head ultrasound. Her physical examination showed hypotonia, all growth parameters below the 5th percentile, and distinctive facial features (long smooth philtrum, thin lips, and low-set ears with fine simple helices). Her parents were cousins and she was their first child." "" "" "" "" "" "" "" "" "Multiple pterygium syndrome, Escobar variant" "" "" "0000310890" "00198" "00419609" "02300" "Familial, autosomal recessive" "6y" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000325522" "00875" "00435326" "01164" "Unknown" "02y" "Neurodevelopmental delay, Positional foot deformity, Flexion contracture" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 49 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000035314" "00035244" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035315" "00035245" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000118285" "00117822" "1" "00006" "00006" "2009-09-07 12:44:19" "00006" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000118286" "00117823" "1" "00006" "00006" "2009-09-22 14:17:15" "01610" "2014-02-21 10:15:59" "SEQ" "DNA" "" "" "0000118287" "00117824" "1" "00006" "00006" "2009-09-22 14:37:49" "01610" "2014-02-21 10:07:53" "SEQ" "DNA" "" "" "0000118288" "00117825" "1" "00006" "00006" "2009-09-14 14:30:31" "00006" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000118289" "00117826" "1" "00006" "00006" "2009-09-04 10:45:59" "00006" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000118290" "00117827" "1" "00006" "00006" "2009-09-04 12:53:20" "01610" "2014-02-21 10:06:13" "SEQ" "DNA" "" "" "0000118291" "00117828" "1" "00006" "00006" "2009-09-08 11:28:49" "00006" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000118292" "00117829" "1" "00006" "00006" "2009-09-04 12:08:41" "00006" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000118293" "00117830" "1" "00006" "00006" "2009-09-07 11:06:45" "00006" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000118294" "00117831" "1" "00006" "00006" "2009-09-04 10:41:18" "00006" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000118295" "00117832" "1" "00006" "00006" "2009-09-07 15:18:11" "00006" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000118296" "00117833" "1" "00006" "00006" "2009-09-10 13:35:02" "00006" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000118297" "00117834" "1" "00006" "00006" "2009-09-09 10:24:58" "01610" "2014-02-21 10:01:39" "SEQ" "DNA" "" "" "0000118298" "00117835" "1" "00006" "00006" "2009-09-04 11:38:07" "01610" "2014-02-21 10:20:58" "SEQ" "DNA" "" "" "0000118299" "00117836" "1" "00006" "00006" "2009-09-09 10:08:54" "00006" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000118300" "00117837" "1" "00006" "00006" "2009-09-04 12:16:52" "01610" "2014-02-21 09:58:27" "SEQ" "DNA" "" "" "0000118301" "00117838" "1" "00006" "00006" "2009-09-04 12:29:07" "01610" "2014-02-21 09:59:23" "SEQ" "DNA" "" "" "0000118302" "00117839" "1" "00006" "00006" "2009-09-09 10:13:55" "00006" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000118303" "00117840" "1" "00006" "00006" "2009-09-09 10:28:01" "01610" "2014-02-21 10:13:07" "SEQ" "DNA" "" "" "0000118304" "00117841" "1" "00006" "00006" "2009-09-10 13:08:04" "01610" "2014-02-21 10:11:29" "SEQ" "DNA" "" "" "0000118305" "00117842" "1" "00006" "00006" "2009-09-07 13:06:22" "00006" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000118306" "00117843" "1" "00006" "00006" "2009-09-07 13:11:25" "00006" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000118307" "00117844" "1" "00006" "00006" "2009-09-04 10:52:54" "00006" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000118308" "00117845" "1" "00006" "00006" "2009-09-10 12:30:53" "01610" "2009-09-14 13:24:59" "SEQ" "DNA" "" "" "0000118309" "00117846" "1" "00006" "00006" "2009-09-08 10:01:50" "00006" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000118310" "00117847" "1" "02091" "02091" "2017-03-01 21:23:20" "" "" "SEQ" "DNA" "" "" "0000118311" "00117848" "1" "00006" "00006" "2009-09-08 10:35:20" "00006" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000118312" "00117849" "1" "00006" "00006" "2009-09-22 14:31:32" "00006" "2011-06-30 15:42:50" "SEQ" "DNA" "" "" "0000118313" "00117850" "1" "00006" "00006" "2009-09-07 12:19:01" "01610" "2014-02-21 10:04:31" "SEQ" "DNA" "" "" "0000118314" "00117851" "1" "00006" "00006" "2009-09-10 12:37:16" "01610" "2009-09-14 13:21:23" "SEQ" "DNA" "" "" "0000164515" "00163650" "1" "02440" "02440" "2018-04-03 16:54:13" "" "" "SEQ-NG-I" "DNA" "Umbilical cord" "" "0000209802" "00208753" "1" "00006" "00006" "2018-12-14 09:40:33" "" "" "SEQ" "DNA" "" "" "0000249441" "00248337" "1" "00006" "00006" "2019-07-21 23:12:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000293808" "00292640" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293809" "00292641" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301367" "00300249" "1" "01164" "01164" "2020-04-24 15:09:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000305926" "00304797" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305927" "00304798" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308323" "00307181" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308337" "00307195" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308342" "00307200" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308373" "00307231" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000389881" "00388639" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000400318" "00399073" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000409357" "00408102" "1" "00000" "03840" "2022-04-13 19:19:00" "" "" "arraySNP;SEQ" "DNA" "" "" "0000420913" "00419609" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436806" "00435326" "1" "01164" "01164" "2023-07-05 12:34:17" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 53 "{{screeningid}}" "{{geneid}}" "0000035314" "CHRNG" "0000035315" "CHRNG" "0000118285" "CHRNG" "0000118286" "CHRNG" "0000118287" "CHRNG" "0000118288" "CHRNG" "0000118289" "CHRNG" "0000118290" "CHRNG" "0000118291" "CHRNG" "0000118292" "CHRNG" "0000118293" "CHRNG" "0000118294" "CHRNG" "0000118295" "CHRNG" "0000118296" "CHRNG" "0000118297" "CHRNG" "0000118298" "CHRNG" "0000118299" "CHRNG" "0000118300" "CHRNG" "0000118301" "CHRNG" "0000118302" "CHRNG" "0000118303" "CHRNG" "0000118304" "CHRNG" "0000118305" "CHRNG" "0000118306" "CHRNG" "0000118307" "CHRNG" "0000118308" "CHRNG" "0000118309" "CHRNG" "0000118310" "CHRNG" "0000118311" "CHRNG" "0000118312" "CHRNG" "0000118313" "CHRNG" "0000118314" "CHRNG" "0000164515" "CHRNA1" "0000164515" "CHRNB1" "0000164515" "CHRND" "0000164515" "CHRNE" "0000164515" "CHRNG" "0000164515" "CNTN1" "0000164515" "DOK7" "0000164515" "KLHL40" "0000164515" "MTM1" "0000164515" "MUSK" "0000164515" "NALCN" "0000164515" "RAPSN" "0000164515" "UBA1" "0000209802" "CHRNG" "0000249441" "CHRNG" "0000308323" "CHRNG" "0000308337" "CHRNG" "0000308342" "CHRNG" "0000308373" "CHRNG" "0000409357" "CHRNG" "0000436806" "CHRNG" ## 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 = 95 "{{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}}" "0000062433" "1" "90" "2" "233407740" "233407741" "del" "0.000162426" "01164" "CHRNG_000008" "g.233407740_233407741del" "" "" "" "" "literatue: p.(Pro251Profs*46)" "Germline" "" "" "0" "" "" "g.232543030_232543031del" "" "pathogenic" "" "0000062434" "1" "90" "2" "233406192" "233406192" "dup" "0" "01164" "CHRNG_000033" "g.233406192dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.232541482dup" "" "pathogenic" "" "0000194372" "0" "99" "2" "233404470" "233404470" "subst" "0" "00006" "CHRNG_000042" "g.233404470C>T" "" "" "" "" "Homozygote; Previously reported:c.DNA 13C>T, Mature protein after signal peptide cleavage Q-18X." "Germline" "" "" "0" "" "" "g.232539760C>T" "" "pathogenic" "" "0000194373" "0" "55" "2" "233404512" "233404512" "subst" "0" "00006" "CHRNG_000053" "g.233404512G>A" "" "" "" "" "compound heterozygote" "Germline" "" "" "0" "" "" "g.232539802G>A" "" "VUS" "" "0000194374" "0" "99" "2" "233404701" "233404701" "subst" "4.06752E-6" "00006" "CHRNG_000056" "g.233404701G>A" "" "" "" "" "homozygote" "Germline" "" "" "0" "" "" "g.232539991G>A" "" "pathogenic" "" "0000194375" "0" "55" "2" "233404728" "233404728" "subst" "0.000723424" "00006" "CHRNG_000052" "g.233404728C>T" "" "" "" "" "Heterozygote" "Germline" "" "" "0" "" "" "g.232540018C>T" "" "VUS" "" "0000194376" "0" "99" "2" "233404782" "233404782" "subst" "5.68648E-5" "00006" "CHRNG_000002" "g.233404782C>T" "" "" "" "" "homozygote" "Germline" "" "" "0" "" "" "g.232540072C>T" "" "pathogenic" "" "0000194377" "0" "99" "2" "233405097" "233405097" "subst" "1.62444E-5" "00006" "CHRNG_000035" "g.233405097C>T" "" "" "" "" "compound heterozygote" "Germline" "" "" "0" "" "" "g.232540387C>T" "" "pathogenic" "" "0000194378" "0" "99" "2" "233405327" "233405327" "subst" "2.05051E-5" "00006" "CHRNG_000047" "g.233405327C>T" "" "" "" "" "Compound heterozygote; Previously reported:cDNA 256C->T, Mature protein after signal peptide cleavage R64C." "Germline" "" "" "0" "" "" "g.232540617C>T" "" "pathogenic" "" "0000194379" "0" "55" "2" "233405370" "233405370" "subst" "0" "00006" "CHRNG_000032" "g.233405370T>G" "" "" "" "" "Homozygote" "Germline" "" "" "0" "" "" "g.232540660T>G" "" "VUS" "" "0000194380" "0" "99" "2" "233405372" "233405380" "dup" "0" "00006" "CHRNG_000037" "g.233405372_233405380dup" "" "" "" "" "compound heterozygote. ; Previously reported:CDNA 300dup(9), mature protein after signal peptide cleavage 79dup(3)." "Germline" "" "" "0" "" "" "g.232540662_232540670dup" "" "pathogenic" "" "0000194381" "0" "99" "2" "233405391" "233405391" "subst" "0" "00006" "CHRNG_000001" "g.233405391T>G" "" "" "" "" "Homozygote" "Germline" "" "" "0" "" "" "g.232540681T>G" "" "pathogenic" "" "0000194382" "0" "55" "2" "233406075" "233406075" "subst" "4.06131E-6" "00006" "CHRNG_000044" "g.233406075T>C" "" "" "" "" "Homozygote; Previously reported as IVS4-9T->C, possible splicesite mutation." "Germline" "" "" "0" "" "" "g.232541365T>C" "" "VUS" "" "0000194383" "0" "55" "2" "233406100" "233406100" "subst" "0.000296468" "00006" "CHRNG_000051" "g.233406100G>A" "" "" "" "" "Heterozygote" "Germline" "" "" "0" "" "" "g.232541390G>A" "" "VUS" "" "0000194384" "0" "99" "2" "233406121" "233406121" "del" "0" "00006" "CHRNG_000049" "g.233406121del" "" "" "" "388delG" "Compoound heterozygote" "Germline" "" "" "0" "" "" "g.232541411del" "" "pathogenic" "" "0000194385" "0" "99" "2" "233406130" "233406130" "del" "2.03037E-5" "00006" "CHRNG_000031" "g.233406130del" "" "" "" "397delT" "Homozygote" "Germline" "" "" "0" "" "" "g.232541420del" "" "pathogenic" "" "0000194386" "0" "99" "2" "233406134" "233406135" "del" "7.71542E-5" "00006" "CHRNG_000048" "g.233406134_233406135del" "" "" "" "401_402delCT" "Homozygote; Previously reported: c.401_402delCT, p.Pro134ArgfsX34." "Germline" "" "" "0" "" "" "g.232541424_232541425del" "" "pathogenic" "" "0000194387" "0" "99" "2" "233406192" "233406192" "dup" "0" "00006" "CHRNG_000033" "g.233406192dup" "" "" "" "459dupA" "Homozygote" "Germline" "" "" "0" "" "" "g.232541482dup" "" "pathogenic" "" "0000194388" "0" "99" "2" "233406192" "233406192" "dup" "0" "00006" "CHRNG_000033" "g.233406192dup" "" "" "" "459dupA" "Homozygote" "Germline" "" "" "0" "" "" "g.232541482dup" "" "pathogenic" "" "0000194389" "0" "99" "2" "233406192" "233406192" "dup" "0" "00006" "CHRNG_000033" "g.233406192dup" "" "" "" "459dupA" "Homozygote; Previously reported: c.469dupA, p.Val154SerfsX24." "Germline" "" "" "0" "" "" "g.232541482dup" "" "pathogenic" "" "0000194390" "0" "99" "2" "233406192" "233406192" "dup" "0" "00006" "CHRNG_000033" "g.233406192dup" "" "" "" "459dupA" "Compound heterozygote" "Germline" "" "" "0" "" "" "g.232541482dup" "" "pathogenic" "" "0000194391" "0" "95" "2" "233406192" "233406192" "dup" "0" "00006" "CHRNG_000033" "g.233406192dup" "" "" "" "459dupA" "Homozygote" "Germline" "" "" "0" "" "" "g.232541482dup" "" "pathogenic" "" "0000194392" "21" "99" "2" "233406192" "233406192" "dup" "0" "00006" "CHRNG_000033" "g.233406192dup" "" "" "" "459dupA" "Compound Heterozygote" "Germline" "" "" "0" "" "" "g.232541482dup" "" "pathogenic" "" "0000194393" "0" "99" "2" "233407702" "233407702" "subst" "1.2182E-5" "00006" "CHRNG_000043" "g.233407702C>T" "" "" "" "" "Homozygote; Previously reported:cDNA 715C->T, Mature protein after signal peptide cleavage R217C." "Germline" "" "" "0" "" "" "g.232542992C>T" "" "pathogenic" "" "0000194394" "0" "99" "2" "233407702" "233407702" "subst" "1.2182E-5" "00006" "CHRNG_000043" "g.233407702C>T" "" "" "" "" "Homozygote; Previously reported:cDNA 715C->T, Mature protein after signal peptide cleavage R217C." "Germline" "" "" "0" "" "" "g.232542992C>T" "" "pathogenic" "" "0000194395" "0" "99" "2" "233407740" "233407741" "del" "0.000162426" "00006" "CHRNG_000008" "g.233407740_233407741del" "" "" "" "753_754delCT" "Homozygote.; Previously reported p.Pro251ProfsX46" "Germline" "" "" "0" "" "" "g.232543030_232543031del" "" "pathogenic" "" "0000194396" "0" "99" "2" "233407740" "233407741" "del" "0.000162426" "00006" "CHRNG_000008" "g.233407740_233407741del" "" "" "" "753_754delCT" "Compound Heterozygote" "Germline" "" "" "0" "" "" "g.232543030_232543031del" "" "pathogenic" "" "0000194397" "0" "99" "2" "233407740" "233407741" "del" "0.000162426" "00006" "CHRNG_000008" "g.233407740_233407741del" "" "" "" "753_754delCT" "Homozygote" "Germline" "" "" "0" "" "" "g.232543030_232543031del" "" "pathogenic" "" "0000194398" "10" "99" "2" "233407740" "233407741" "del" "0.000162426" "00006" "CHRNG_000008" "g.233407740_233407741del" "" "" "" "753_754delCT" "Compound Heterozygote" "Germline" "" "" "0" "" "" "g.232543030_232543031del" "" "pathogenic" "" "0000194399" "0" "99" "2" "233407986" "233407986" "dup" "0" "00006" "CHRNG_000045" "g.233407986dup" "" "" "" "807dupT" "Homozygote; Previously reported:cDNA 807insT, Mature protein after signal peptide cleavage248-274, 275X." "Germline" "" "" "0" "" "" "g.232543276dup" "" "pathogenic" "" "0000194400" "3" "70" "2" "233407968" "233407985" "del" "0" "02091" "CHRNG_000057" "g.233407968_233407985del" "" "" "" "" "g.8532_8549del" "Germline" "" "" "0" "" "" "g.232543258_232543275del" "" "likely pathogenic" "" "0000194401" "0" "99" "2" "233409173" "233409177" "dup" "0" "00006" "CHRNG_000054" "g.233409173_233409177dup" "" "" "" "" "compound heterozygote" "Germline" "" "" "0" "" "" "g.232544463_232544467dup" "" "pathogenic" "" "0000194402" "0" "99" "2" "233409290" "233409290" "subst" "0" "00006" "CHRNG_000046" "g.233409290G>C" "" "" "" "" "Homozygote; Previously reported:cDNA 1249G->C, Mature protein after signal peptide cleavage395-418, 419X." "Germline" "" "" "0" "" "" "g.232544580G>C" "" "pathogenic" "" "0000194403" "0" "55" "2" "233409491" "233409491" "subst" "0.000113761" "00006" "CHRNG_000055" "g.233409491C>T" "" "" "" "" "Heterozygote" "Germline" "" "" "0" "" "" "g.232544781C>T" "" "VUS" "" "0000194404" "0" "99" "2" "233409524" "233409543" "del" "0" "00006" "CHRNG_000041" "g.233409524_233409543del" "" "" "" "1292_1311del20" "Homozygote" "Germline" "" "" "0" "" "" "g.232544814_232544833del" "" "pathogenic" "" "0000194405" "0" "99" "2" "233410280" "233410280" "subst" "1.22362E-5" "00006" "CHRNG_000038" "g.233410280C>T" "" "" "" "" "compound heterozygote. ; Previously reported:CDNA 1408C->T, mature protein after signal peptide cleavage R448X." "Germline" "" "" "0" "" "" "g.232545570C>T" "" "pathogenic" "" "0000194406" "0" "55" "2" "233410388" "233410388" "subst" "0.00664467" "00006" "CHRNG_000050" "g.233410388C>T" "" "" "" "" "Heterozygote" "Germline" "" "" "0" "" "" "g.232545678C>T" "" "VUS" "" "0000266806" "0" "10" "2" "233410294" "233410294" "subst" "0.187117" "02325" "CHRNG_000064" "g.233410294C>T" "" "" "" "CHRNG(NM_005199.5):c.1422C>T (p.R474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232545584C>T" "" "benign" "" "0000266807" "0" "10" "2" "233407120" "233407120" "subst" "0.210883" "02325" "CHRNG_000061" "g.233407120C>T" "" "" "" "CHRNG(NM_005199.5):c.507-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232542410C>T" "" "benign" "" "0000270236" "0" "30" "2" "233404771" "233404771" "subst" "0.00233556" "02326" "CHRNG_000058" "g.233404771G>A" "" "" "" "CHRNG(NM_005199.4):c.125G>A (p.(Arg42Gln)), CHRNG(NM_005199.5):c.125G>A (p.R42Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232540061G>A" "" "likely benign" "" "0000270237" "0" "30" "2" "233406178" "233406178" "subst" "0.0332797" "02326" "CHRNG_000060" "g.233406178G>A" "" "" "" "CHRNG(NM_005199.5):c.445G>A (p.A149T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232541468G>A" "" "likely benign" "" "0000273553" "0" "50" "2" "233399910" "233399910" "subst" "4.06088E-5" "01943" "CHRND_000031" "g.233399910T>C" "" "" "" "CHRND(NM_000751.2):c.1442T>C (p.M481T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232535200T>C" "" "VUS" "" "0000328173" "0" "30" "2" "233404771" "233404771" "subst" "0.00233556" "01804" "CHRNG_000058" "g.233404771G>A" "" "" "" "CHRNG(NM_005199.4):c.125G>A (p.(Arg42Gln)), CHRNG(NM_005199.5):c.125G>A (p.R42Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232540061G>A" "" "likely benign" "" "0000328175" "0" "50" "2" "233407986" "233407986" "dup" "0" "01804" "CHRNG_000045" "g.233407986dup" "" "" "" "CHRNG(NM_005199.4):c.806_807insT (p.(Gly270TrpfsTer28))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232543276dup" "" "VUS" "" "0000328178" "0" "30" "2" "233413397" "233413402" "del" "0" "01804" "TIGD1_000001" "g.233413397_233413402del" "" "" "" "TIGD1(NM_145702.1):c.1195_1200del (p.(Leu399_Thr400del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232548687_232548692del" "" "likely benign" "" "0000328179" "0" "30" "2" "233414369" "233414369" "subst" "9.993E-5" "01804" "TIGD1_000002" "g.233414369C>T" "" "" "" "TIGD1(NM_145702.1):c.224G>A (p.(Arg75Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232549659C>T" "" "likely benign" "" "0000337561" "0" "10" "2" "233404855" "233404855" "subst" "0.00361598" "02327" "CHRNG_000066" "g.233404855C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232540145C>T" "" "benign" "" "0000337562" "0" "10" "2" "233407120" "233407120" "subst" "0.210883" "02327" "CHRNG_000061" "g.233407120C>T" "" "" "" "CHRNG(NM_005199.5):c.507-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232542410C>T" "" "benign" "" "0000337563" "0" "10" "2" "233408283" "233408283" "subst" "0.308762" "02327" "CHRNG_000067" "g.233408283C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232543573C>T" "" "benign" "" "0000347086" "0" "50" "2" "233404732" "233404732" "subst" "0" "02327" "CHRNG_000065" "g.233404732T>A" "" "" "" "CHRNG(NM_005199.5):c.86T>A (p.L29Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232540022T>A" "" "VUS" "" "0000367735" "21" "90" "2" "233409251" "233409251" "subst" "0" "02440" "CHRNG_000068" "g.233409251C>T" "0 controls" "" "" "" "" "Uniparental disomy, maternal allele" "-" "" "0" "" "" "g.232544541C>T" "{CV:487641}" "pathogenic" "" "0000367736" "0" "10" "2" "233410294" "233410294" "subst" "0.187117" "02440" "CHRNG_000064" "g.233410294C>T" "0.2 controls" "" "" "" "" "Uniparental disomy, maternal allele" "-" "" "0" "" "" "g.232545584C>T" "" "benign" "" "0000440015" "3" "90" "2" "233404782" "233404782" "subst" "5.68648E-5" "00006" "CHRNG_000002" "g.233404782C>T" "" "{PMID:Sher 2018:30461311}" "" "" "" "Germline" "yes" "" "0" "" "" "g.232540072C>T" "" "pathogenic (recessive)" "" "0000515094" "0" "30" "2" "233399868" "233399868" "subst" "0.0011215" "01804" "CHRND_000050" "g.233399868G>A" "" "" "" "CHRND(NM_000751.2):c.1400G>A (p.(Arg467His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232535158G>A" "" "likely benign" "" "0000515103" "0" "30" "2" "233409610" "233409610" "subst" "0.000418907" "01804" "CHRNG_000073" "g.233409610A>G" "" "" "" "CHRNG(NM_005199.5):c.1378A>G (p.(Asn460Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232544900A>G" "" "likely benign" "" "0000515104" "0" "50" "2" "233410253" "233410253" "subst" "0.000545547" "02327" "CHRNG_000074" "g.233410253G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232545543G>A" "" "VUS" "" "0000515109" "0" "30" "2" "233414144" "233414144" "subst" "0" "01804" "CHRNG_000078" "g.233414144G>A" "" "" "" "TIGD1(NM_145702.1):c.449C>T (p.(Ala150Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232549434G>A" "" "likely benign" "" "0000515110" "0" "30" "2" "233414151" "233414151" "subst" "0" "01804" "CHRNG_000079" "g.233414151T>C" "" "" "" "TIGD1(NM_145702.1):c.442A>G (p.(Ile148Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232549441T>C" "" "likely benign" "" "0000515111" "0" "30" "2" "233414160" "233414160" "subst" "0" "01804" "CHRNG_000080" "g.233414160A>G" "" "" "" "TIGD1(NM_145702.1):c.433T>C (p.(Phe145Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232549450A>G" "" "likely benign" "" "0000515112" "0" "30" "2" "233414179" "233414179" "subst" "0" "01804" "CHRNG_000081" "g.233414179C>G" "" "" "" "TIGD1(NM_145702.1):c.414G>C (p.(Arg138Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232549469C>G" "" "likely benign" "" "0000578224" "3" "90" "2" "233406192" "233406192" "dup" "0" "00006" "CHRNG_000033" "g.233406192dup" "" "{PMID:Todd 2015:26578207}" "" "459dupA" "" "Germline" "" "" "0" "" "" "g.232541482dup" "" "pathogenic (recessive)" "" "0000607818" "0" "90" "2" "233406192" "233406192" "dup" "0" "02327" "CHRNG_000033" "g.233406192dup" "" "" "" "CHRNG(NM_005199.5):c.459dup (p.(Val154Serfs*24)), CHRNG(NM_005199.5):c.459dupA (p.V154Sfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232541482dup" "" "pathogenic" "" "0000607819" "0" "50" "2" "233407741" "233407741" "subst" "8.52743E-5" "02325" "CHRNG_000082" "g.233407741T>C" "" "" "" "CHRNG(NM_005199.5):c.754T>C (p.C252R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232543031T>C" "" "VUS" "" "0000607820" "0" "30" "2" "233408325" "233408325" "subst" "0.0140862" "01804" "CHRNG_000083" "g.233408325C>A" "" "" "" "CHRNG(NM_005199.4):c.951C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232543615C>A" "" "likely benign" "" "0000650497" "1" "30" "2" "233406178" "233406178" "subst" "0.0332797" "03575" "CHRNG_000060" "g.233406178G>A" "185/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "185 heterozygous; {DB:CLININrs2289080}" "Germline" "" "rs2289080" "0" "" "" "g.232541468G>A" "" "likely benign" "" "0000650498" "1" "50" "2" "233410388" "233410388" "subst" "0.00664467" "03575" "CHRNG_000050" "g.233410388C>T" "58/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 58 heterozygous; {DB:CLININrs71421651}" "Germline" "" "rs71421651" "0" "" "" "g.232545678C>T" "" "VUS" "" "0000664292" "3" "70" "2" "233406153" "233406153" "subst" "6.09127E-5" "01164" "CHRNG_000084" "g.233406153G>A" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "rs201762781" "0" "" "" "g.232541443G>A" "" "likely pathogenic" "ACMG" "0000669614" "3" "30" "2" "233406178" "233406178" "subst" "0.0332797" "03575" "CHRNG_000060" "g.233406178G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs2289080}" "Germline" "" "rs2289080" "0" "" "" "g.232541468G>A" "" "likely benign" "" "0000669615" "3" "50" "2" "233410388" "233410388" "subst" "0.00664467" "03575" "CHRNG_000050" "g.233410388C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 homozygous; {DB:CLININrs71421651}" "Germline" "" "rs71421651" "0" "" "" "g.232545678C>T" "" "VUS" "" "0000675281" "3" "90" "2" "233406192" "233406192" "dup" "0" "00534" "CHRNG_000033" "g.233406192dup" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "c.459dupA" "" "Germline" "" "" "0" "" "" "g.232541482dup" "" "pathogenic (recessive)" "ACMG" "0000675295" "3" "90" "2" "233406192" "233406192" "dup" "0" "00534" "CHRNG_000033" "g.233406192dup" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "c.459dupA" "" "Germline" "" "" "0" "" "" "g.232541482dup" "" "pathogenic (recessive)" "ACMG" "0000675300" "3" "90" "2" "233404782" "233404782" "subst" "5.68648E-5" "00534" "CHRNG_000002" "g.233404782C>T" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.232540072C>T" "" "pathogenic (recessive)" "ACMG" "0000675331" "1" "70" "2" "233404701" "233404701" "subst" "4.06752E-6" "00534" "CHRNG_000056" "g.233404701G>A" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.232539991G>A" "" "likely pathogenic (recessive)" "ACMG" "0000675364" "2" "90" "2" "233406192" "233406192" "dup" "0" "00534" "CHRNG_000033" "g.233406192dup" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "c.459dupA" "" "Germline" "" "" "0" "" "" "g.232541482dup" "" "pathogenic (recessive)" "ACMG" "0000676557" "0" "30" "2" "233406204" "233406204" "subst" "0.00160016" "02326" "CHRND_000061" "g.233406204C>T" "" "" "" "CHRNG(NM_005199.5):c.471C>T (p.F157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688698" "0" "50" "2" "233406099" "233406099" "subst" "4.06121E-6" "02325" "CHRND_000063" "g.233406099C>A" "" "" "" "CHRNG(NM_005199.5):c.366C>A (p.F122L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718621" "0" "50" "2" "233404732" "233404732" "subst" "0" "02325" "CHRNG_000065" "g.233404732T>A" "" "" "" "CHRNG(NM_005199.5):c.86T>A (p.L29Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718622" "0" "30" "2" "233406177" "233406177" "subst" "4.46697E-5" "02325" "CHRND_000065" "g.233406177C>T" "" "" "" "CHRNG(NM_005199.5):c.444C>T (p.S148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000819278" "0" "70" "2" "233407740" "233407741" "del" "0.000162426" "00006" "CHRNG_000008" "g.233407740_233407741del" "" "{PMID:Chakravorty 2020:33250842}" "" "753_754delCT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000833125" "3" "70" "2" "233406192" "233406192" "dup" "0" "00006" "CHRNG_000033" "g.233406192dup" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.232541482dup" "" "likely pathogenic" "" "0000846511" "3" "70" "2" "233406075" "233406075" "subst" "4.06131E-6" "00000" "CHRNG_000044" "g.233406075T>C" "" "{PMID:Alabdullatif 2017:27717089}" "" "CHRNG c.351-9T>C," "homozygous" "Germline" "yes" "" "0" "" "" "g.232541365T>C" "" "likely pathogenic" "" "0000881272" "21" "90" "2" "233407702" "233407702" "subst" "1.2182E-5" "02300" "CHRNG_000043" "g.233407702C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS3, PM2, PP2, PP3, PP5" "Germline" "" "" "0" "" "" "g.232542992C>T" "" "pathogenic (recessive)" "ACMG" "0000881362" "11" "70" "2" "233408074" "233408074" "subst" "0" "02300" "CHRNG_000085" "g.233408074T>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM2, PM3, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.232543364T>A" "" "likely pathogenic (recessive)" "ACMG" "0000911636" "0" "50" "2" "233406173" "233406173" "subst" "3.65485E-5" "02327" "CHRND_000072" "g.233406173G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911637" "0" "50" "2" "233410295" "233410295" "subst" "0.000109874" "02327" "CHRNG_000086" "g.233410295G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927954" "3" "70" "2" "233405097" "233405097" "subst" "1.62444E-5" "01164" "CHRNG_000035" "g.233405097C>T" "" "PMID 22167768, 31680349" "" "" "ACMG: PVS1, PM3, PM2_SUP" "Germline" "-" "" "0" "" "" "g.232540387C>T" "VCV000548021.11" "pathogenic (recessive)" "ACMG" "0000975092" "0" "90" "2" "233406192" "233406192" "dup" "0" "01804" "CHRNG_000033" "g.233406192dup" "" "" "" "CHRNG(NM_005199.5):c.459dup (p.(Val154Serfs*24)), CHRNG(NM_005199.5):c.459dupA (p.V154Sfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975093" "0" "30" "2" "233408368" "233408368" "subst" "0.000735163" "01804" "CHRNG_000087" "g.233408368C>T" "" "" "" "CHRNG(NM_005199.5):c.994C>T (p.(Arg332Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975094" "0" "50" "2" "233410374" "233410374" "subst" "3.6575E-5" "01804" "CHRNG_000088" "g.233410374C>T" "" "" "" "CHRNG(NM_005199.5):c.1502C>T (p.(Pro501Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033111" "0" "50" "2" "233404829" "233404829" "subst" "1.62464E-5" "01804" "CHRND_000084" "g.233404829C>A" "" "" "" "CHRNG(NM_005199.5):c.183C>A (p.(Asn61Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033112" "0" "30" "2" "233406076" "233406076" "subst" "0" "01804" "CHRND_000085" "g.233406076G>A" "" "" "" "CHRNG(NM_005199.5):c.351-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033113" "0" "90" "2" "233406192" "233406192" "dup" "0" "02325" "CHRNG_000033" "g.233406192dup" "" "" "" "CHRNG(NM_005199.5):c.459dup (p.(Val154Serfs*24)), CHRNG(NM_005199.5):c.459dupA (p.V154Sfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033114" "0" "30" "2" "233407582" "233407589" "dup" "0" "01804" "CHRNG_000089" "g.233407582_233407589dup" "" "" "" "CHRNG(NM_005199.5):c.605-10_605-3dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033115" "0" "50" "2" "233407583" "233407586" "dup" "0" "01804" "CHRNG_000090" "g.233407583_233407586dup" "" "" "" "CHRNG(NM_005199.5):c.605-9_605-6dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033116" "0" "30" "2" "233409620" "233409620" "subst" "1.22157E-5" "01804" "CHRNG_000091" "g.233409620G>A" "" "" "" "CHRNG(NM_005199.5):c.1380+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 CHRNG ## Count = 95 "{{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}}" "0000062433" "00005155" "90" "753" "0" "754" "0" "c.753_754del" "r.(?)" "p.(Val253Alafs*44)" "" "0000062434" "00005155" "90" "459" "0" "459" "0" "c.459dup" "r.(?)" "p.(Val154Serfs*24)" "" "0000194372" "00005155" "99" "13" "0" "13" "0" "c.13C>T" "r.(?)" "p.(Gln4*)" "1" "0000194373" "00005155" "55" "55" "0" "55" "0" "c.55G>A" "r.(?)" "p.(Gly19Arg)" "1" "0000194374" "00005155" "99" "56" "-1" "56" "-1" "c.56-1G>A" "r.spl" "p.?" "2" "0000194375" "00005155" "55" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Cys)" "2" "0000194376" "00005155" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "2" "0000194377" "00005155" "99" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68*)" "3" "0000194378" "00005155" "99" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "4" "0000194379" "00005155" "55" "299" "0" "299" "0" "c.299T>G" "r.(?)" "p.(Leu100Arg)" "4" "0000194380" "00005155" "99" "301" "0" "309" "0" "c.301_309dup" "r.(?)" "p.(Arg101_Pro103dup)" "4" "0000194381" "00005155" "99" "320" "0" "320" "0" "c.320T>G" "r.(?)" "p.(Val107Gly)" "4" "0000194382" "00005155" "55" "351" "-9" "351" "-9" "c.351-9T>C" "r.spl?" "p.(=)" "4i" "0000194383" "00005155" "55" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Glu123Lys)" "5" "0000194384" "00005155" "99" "388" "0" "388" "0" "c.388del" "r.(?)" "p.(Val130Cysfs*53)" "5" "0000194385" "00005155" "99" "397" "0" "397" "0" "c.397del" "r.(?)" "p.(Ser133Profs*50)" "5" "0000194386" "00005155" "99" "401" "0" "402" "0" "c.401_402del" "r.(?)" "p.(Pro134Argfs*43)" "5" "0000194387" "00005155" "99" "459" "0" "459" "0" "c.459dup" "r.(?)" "p.(Val154Serfs*24)" "5" "0000194388" "00005155" "99" "459" "0" "459" "0" "c.459dup" "r.(?)" "p.(Val154Serfs*24)" "5" "0000194389" "00005155" "99" "459" "0" "459" "0" "c.459dup" "r.(?)" "p.(Val154Serfs*24)" "5" "0000194390" "00005155" "99" "459" "0" "459" "0" "c.459dup" "r.(?)" "p.(Val154Serfs*24)" "5" "0000194391" "00005155" "95" "459" "0" "459" "0" "c.459dup" "r.(?)" "p.(Val154Serfs*24)" "5" "0000194392" "00005155" "99" "459" "0" "459" "0" "c.459dup" "r.(?)" "p.(Val154Serfs*24)" "5" "0000194393" "00005155" "99" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Cys)" "7" "0000194394" "00005155" "99" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Cys)" "7" "0000194395" "00005155" "99" "753" "0" "754" "0" "c.753_754del" "r.(?)" "p.(Val253Alafs*44)" "7" "0000194396" "00005155" "99" "753" "0" "754" "0" "c.753_754del" "r.(?)" "p.(Val253Alafs*44)" "7" "0000194397" "00005155" "99" "753" "0" "754" "0" "c.753_754del" "r.(?)" "p.(Val253Alafs*44)" "7" "0000194398" "00005155" "99" "753" "0" "754" "0" "c.753_754del" "r.(?)" "p.(Val253Alafs*44)" "7" "0000194399" "00005155" "99" "807" "0" "807" "0" "c.807dup" "r.(?)" "p.(Gly270Trpfs*28)" "8" "0000194400" "00005155" "70" "806" "-17" "806" "0" "c.806-17_806del" "r.spl" "p.?" "8_81" "0000194401" "00005155" "99" "1132" "0" "1136" "0" "c.1132_1136dup" "r.(?)" "p.(Gly380Profs*39)" "10" "0000194402" "00005155" "99" "1249" "0" "1249" "0" "c.1249G>C" "r.(?)" "p.(Glu417Gln)" "10" "0000194403" "00005155" "55" "1259" "0" "1259" "0" "c.1259C>T" "r.(?)" "p.(Pro420Leu)" "10" "0000194404" "00005155" "99" "1292" "0" "1311" "0" "c.1292_1311del" "r.(?)" "p.(Leu431Hisfs*22)" "11" "0000194405" "00005155" "99" "1408" "0" "1408" "0" "c.1408C>T" "r.(?)" "p.(Arg470*)" "12" "0000194406" "00005155" "55" "1516" "0" "1516" "0" "c.1516C>T" "r.(?)" "p.(Pro506Ser)" "12" "0000266806" "00005155" "10" "1422" "0" "1422" "0" "c.1422C>T" "r.(?)" "p.(Arg474=)" "" "0000266807" "00005155" "10" "507" "-13" "507" "-13" "c.507-13C>T" "r.(=)" "p.(=)" "" "0000270236" "00005155" "30" "125" "0" "125" "0" "c.125G>A" "r.(?)" "p.(Arg42Gln)" "" "0000270237" "00005155" "30" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Ala149Thr)" "" "0000273553" "00005155" "50" "-4548" "0" "-4548" "0" "c.-4548T>C" "r.(?)" "p.(=)" "" "0000328173" "00005155" "30" "125" "0" "125" "0" "c.125G>A" "r.(?)" "p.(Arg42Gln)" "" "0000328175" "00005155" "50" "807" "0" "807" "0" "c.807dup" "r.(?)" "p.(Gly270TrpfsTer28)" "" "0000328178" "00005155" "30" "4525" "0" "4530" "0" "c.*2971_*2976del" "r.(=)" "p.(=)" "" "0000328179" "00005155" "30" "5497" "0" "5497" "0" "c.*3943C>T" "r.(=)" "p.(=)" "" "0000337561" "00005155" "10" "195" "14" "195" "14" "c.195+14C>T" "r.(=)" "p.(=)" "" "0000337562" "00005155" "10" "507" "-13" "507" "-13" "c.507-13C>T" "r.(=)" "p.(=)" "" "0000337563" "00005155" "10" "921" "-12" "921" "-12" "c.921-12C>T" "r.(=)" "p.(=)" "" "0000347086" "00005155" "50" "86" "0" "86" "0" "c.86T>A" "r.(?)" "p.(Leu29Gln)" "" "0000367735" "00005155" "90" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Gln404*)" "10" "0000367736" "00005155" "10" "1422" "0" "1422" "0" "c.1422C>T" "r.(?)" "p.(=)" "12" "0000440015" "00005155" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "2" "0000515094" "00005155" "30" "-4590" "0" "-4590" "0" "c.-4590G>A" "r.(?)" "p.(=)" "" "0000515103" "00005155" "30" "1378" "0" "1378" "0" "c.1378A>G" "r.(?)" "p.(Asn460Asp)" "" "0000515104" "00005155" "50" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Arg)" "" "0000515109" "00005155" "30" "5272" "0" "5272" "0" "c.*3718G>A" "r.(=)" "p.(=)" "" "0000515110" "00005155" "30" "5279" "0" "5279" "0" "c.*3725T>C" "r.(=)" "p.(=)" "" "0000515111" "00005155" "30" "5288" "0" "5288" "0" "c.*3734A>G" "r.(=)" "p.(=)" "" "0000515112" "00005155" "30" "5307" "0" "5307" "0" "c.*3753C>G" "r.(=)" "p.(=)" "" "0000578224" "00005155" "90" "459" "0" "459" "0" "c.459dup" "r.(?)" "p.(Val154Serfs*24)" "" "0000607818" "00005155" "90" "459" "0" "459" "0" "c.459dup" "r.(?)" "p.(Val154SerfsTer24)" "" "0000607819" "00005155" "50" "754" "0" "754" "0" "c.754T>C" "r.(?)" "p.(Cys252Arg)" "" "0000607820" "00005155" "30" "951" "0" "951" "0" "c.951C>A" "r.(?)" "p.(Ile317=)" "" "0000650497" "00005155" "30" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Ala149Thr)" "" "0000650498" "00005155" "50" "1516" "0" "1516" "0" "c.1516C>T" "r.(?)" "p.(Pro506Ser)" "" "0000664292" "00005155" "70" "420" "0" "420" "0" "c.420G>A" "r.(?)" "p.(Trp140*)" "" "0000669614" "00005155" "30" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Ala149Thr)" "" "0000669615" "00005155" "50" "1516" "0" "1516" "0" "c.1516C>T" "r.(?)" "p.(Pro506Ser)" "" "0000675281" "00005155" "90" "459" "0" "459" "0" "c.459dup" "r.(?)" "p.(Val154Serfs*24)" "" "0000675295" "00005155" "90" "459" "0" "459" "0" "c.459dup" "r.(?)" "p.(Val154Serfs*24)" "" "0000675300" "00005155" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "" "0000675331" "00005155" "70" "56" "-1" "56" "-1" "c.56-1G>A" "r.spl" "p.?" "" "0000675364" "00005155" "90" "459" "0" "459" "0" "c.459dup" "r.(?)" "p.(Val154Serfs*24)" "" "0000676557" "00005155" "30" "471" "0" "471" "0" "c.471C>T" "r.(?)" "p.(Phe157=)" "" "0000688698" "00005155" "50" "366" "0" "366" "0" "c.366C>A" "r.(?)" "p.(Phe122Leu)" "" "0000718621" "00005155" "50" "86" "0" "86" "0" "c.86T>A" "r.(?)" "p.(Leu29Gln)" "" "0000718622" "00005155" "30" "444" "0" "444" "0" "c.444C>T" "r.(?)" "p.(Ser148=)" "" "0000819278" "00005155" "70" "753" "0" "754" "0" "c.753_754del" "r.(?)" "p.(Val253Alafs*44)" "" "0000833125" "00005155" "70" "459" "0" "459" "0" "c.459dup" "r.(?)" "p.(Val154SerfsTer24)" "" "0000846511" "00005155" "70" "351" "-9" "351" "-9" "c.351-9T>C" "r.(?)" "p.(?)" "" "0000881272" "00005155" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Cys)" "" "0000881362" "00005155" "70" "895" "0" "895" "0" "c.895T>A" "r.(?)" "p.(Ser299Thr)" "" "0000911636" "00005155" "50" "440" "0" "440" "0" "c.440G>A" "r.(?)" "p.(Arg147His)" "" "0000911637" "00005155" "50" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Val475Ile)" "" "0000927954" "00005155" "70" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68*)" "" "0000975092" "00005155" "90" "459" "0" "459" "0" "c.459dup" "r.(?)" "p.(Val154SerfsTer24)" "" "0000975093" "00005155" "30" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332Trp)" "" "0000975094" "00005155" "50" "1502" "0" "1502" "0" "c.1502C>T" "r.(?)" "p.(Pro501Leu)" "" "0001033111" "00005155" "50" "183" "0" "183" "0" "c.183C>A" "r.(?)" "p.(Asn61Lys)" "" "0001033112" "00005155" "30" "351" "-8" "351" "-8" "c.351-8G>A" "r.(=)" "p.(=)" "" "0001033113" "00005155" "90" "459" "0" "459" "0" "c.459dup" "r.(?)" "p.(Val154SerfsTer24)" "" "0001033114" "00005155" "30" "605" "-10" "605" "-3" "c.605-10_605-3dup" "r.spl?" "p.?" "" "0001033115" "00005155" "50" "605" "-9" "605" "-6" "c.605-9_605-6dup" "r.(=)" "p.(=)" "" "0001033116" "00005155" "30" "1380" "8" "1380" "8" "c.1380+8G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 57 "{{screeningid}}" "{{variantid}}" "0000035314" "0000062433" "0000035315" "0000062434" "0000118285" "0000194372" "0000118286" "0000194373" "0000118286" "0000194401" "0000118287" "0000194374" "0000118288" "0000194375" "0000118289" "0000194376" "0000118290" "0000194377" "0000118290" "0000194396" "0000118291" "0000194378" "0000118292" "0000194379" "0000118293" "0000194380" "0000118293" "0000194405" "0000118294" "0000194381" "0000118295" "0000194382" "0000118296" "0000194383" "0000118297" "0000194384" "0000118297" "0000194390" "0000118298" "0000194385" "0000118299" "0000194386" "0000118300" "0000194387" "0000118301" "0000194388" "0000118302" "0000194389" "0000118303" "0000194391" "0000118304" "0000194392" "0000118304" "0000194398" "0000118305" "0000194393" "0000118306" "0000194394" "0000118307" "0000194395" "0000118308" "0000194397" "0000118309" "0000194399" "0000118310" "0000194400" "0000118311" "0000194402" "0000118312" "0000194403" "0000118313" "0000194404" "0000118314" "0000194406" "0000164515" "0000367735" "0000164515" "0000367736" "0000209802" "0000440015" "0000249441" "0000578224" "0000293808" "0000650497" "0000293809" "0000650498" "0000301367" "0000664292" "0000305926" "0000669614" "0000305927" "0000669615" "0000308323" "0000675281" "0000308337" "0000675295" "0000308342" "0000675300" "0000308373" "0000675331" "0000308373" "0000675364" "0000389881" "0000819278" "0000400318" "0000833125" "0000409357" "0000846511" "0000420913" "0000881272" "0000420913" "0000881362" "0000436806" "0000927954"