### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = STT3A) # 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}}" "STT3A" "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)" "11" "q23.3" "unknown" "NC_000011.9" "UD_132319546425" "" "https://www.LOVD.nl/STT3A" "" "1" "6172" "3703" "601134" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/STT3A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-14 18:56:54" "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}}" "00025642" "STT3A" "STT3A, subunit of the oligosaccharyltransferase complex (catalytic), transcript variant 2" "002" "NM_152713.4" "" "NP_689926.1" "" "" "" "-159" "4067" "2118" "125462690" "125492654" "00006" "2021-10-14 18:58:08" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04022" "CDG1W" "glycosylation, congenital disorder of, type Iw (CDG1W)" "AD;AR" "615596" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-10-14 19:09:07" "05461" "CDG" "glycosylation, congenital disorder of (CDG)" "" "" "" "" "" "00006" "2018-07-18 09:08:14" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "STT3A" "04022" "STT3A" "05461" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00290285" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00385747" "" "" "" "3" "" "00006" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "2-generation family, affected mother/2 sons" "F" "" "" "" "0" "" "" "Europe" "Fam1PatI.1" "00385748" "" "" "00385747" "1" "" "00006" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "son" "M" "" "" "" "0" "" "" "Europe" "Fam1PatII.1" "00385749" "" "" "00385747" "1" "" "00006" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "son" "M" "" "" "" "0" "" "" "Europe" "Fam1PatII.3" "00385750" "" "" "" "2" "" "00006" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "2-generation family, affected father/daugther" "M" "" "" "" "0" "" "" "Europe" "Fam2PatI.1" "00385751" "" "" "00385750" "1" "" "00006" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "daugther" "F" "" "" "" "0" "" "" "Europe" "Fam2PatII.1" "00385752" "" "" "" "1" "" "00006" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "2-generation family, 1 affected" "F" "no" "" "" "0" "" "" "Europe" "Fam3PatII.1" "00385753" "" "" "" "1" "" "00006" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "2-generation family, 1 affected" "F" "no" "" "" "0" "" "" "Europe" "Fam4PatII.1" "00385754" "" "" "" "1" "" "00006" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "2-generation family, 1 affected" "F" "no" "" "" "0" "" "" "Europe" "Fam5PatII.1" "00385755" "" "" "" "1" "" "00006" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "2-generation family, 1 affected" "F" "no" "" "" "0" "" "" "Europe" "Fam6PatII.1" "00385756" "" "" "" "1" "" "00006" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "2-generation family, 1 affected" "M" "no" "Turkey" "" "0" "" "" "" "Fam7PatII.1" "00385757" "" "" "" "4" "" "00006" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "2-generation family, affected father/daugther/2 sons" "M" "no" "Australia" "" "0" "" "" "Anglo-Australian" "Fam8PatI.1" "00385758" "" "" "00385757" "1" "" "00006" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "son" "M" "no" "Australia" "" "0" "" "" "Anglo-Australian" "Fam8PatII.1" "00385759" "" "" "00385757" "1" "" "00006" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "son" "M" "no" "Australia" "" "0" "" "" "Anglo-Australian" "Fam8PatII.2" "00385760" "" "" "00385757" "1" "" "00006" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "daugther" "F" "no" "Australia" "" "0" "" "" "Anglo-Australian" "Fam8PatII.3" "00385761" "" "" "" "2" "" "00006" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "2-generation family, affected mother/son" "F" "no" "" "" "0" "" "" "Europe" "Fam9PatI.1" "00385762" "" "" "00385761" "1" "" "00006" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "son" "M" "no" "" "" "0" "" "" "Europe" "Fam9PatII.1" "00385763" "" "" "" "2" "" "00006" "{PMID:Shrimal 2013:23842455}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents; brother" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam1Pat1" "00385766" "" "" "" "7" "" "00006" "{PMID:Ghosh 2017:28424003}" "4-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamPatIV1" "00385767" "" "" "00385766" "1" "" "00006" "{PMID:Ghosh 2017:28424003}" "PatIV2" "M" "yes" "Pakistan" "" "0" "" "" "" "FamPatIV2" "00385768" "" "" "00385766" "1" "" "00006" "{PMID:Ghosh 2017:28424003}" "PatIII7" "F" "yes" "Pakistan" "" "0" "" "" "" "FamPatIII7" "00385769" "" "" "00385766" "1" "" "00006" "{PMID:Ghosh 2017:28424003}" "PatIII8" "F" "yes" "Pakistan" "" "0" "" "" "" "FamPatIII8" "00385770" "" "" "00385766" "1" "" "00006" "{PMID:Ghosh 2017:28424003}" "PatIII9" "F" "yes" "Pakistan" "" "0" "" "" "" "FamPatIII9" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00290285" "00198" "00385747" "05461" "00385748" "05461" "00385749" "05461" "00385750" "05461" "00385751" "05461" "00385752" "05461" "00385753" "05461" "00385754" "05461" "00385755" "05461" "00385756" "05461" "00385757" "05461" "00385758" "05461" "00385759" "05461" "00385760" "05461" "00385761" "05461" "00385762" "05461" "00385763" "05461" "00385766" "05461" "00385767" "05461" "00385768" "05461" "00385769" "05461" "00385770" "05461" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04022, 05461 ## Count = 22 "{{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}}" "0000279560" "05461" "00385747" "00006" "Familial, autosomal dominant" "55y" "no intrauterine growth retardation; OFC >95th; no long face; high anterior hairline; no short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; prognathism; no inverted nipples; normal fat-distribution; mild motor developmental delay; no speech delay; learning problems; increased muscle tone; no behavior abnormalities; no strabismus; short stature (-3SD); meta-physeal dysplasia; osteoarthritis; muscle cramps; no muscle hypertrophy; mild intellectual disability" "" "45y" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279561" "05461" "00385748" "00006" "Familial, autosomal dominant" "30y" "no intrauterine growth retardation; normal; no long face; no high anterior hairline; short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; prognathism; no inverted nipples; normal fat-distribution; no motor developmental delay; no speech delay; no learning problems; increased muscle tone; no behavior abnormalities; no strabismus; short stature (-2SD); skeletal abnormalities; osteoarthritis; muscle cramps; no muscle hypertrophy; no intellectual disability" "" "20y" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279562" "05461" "00385749" "00006" "Familial, autosomal dominant" "27y" "no intrauterine growth retardation; OFC 95th; no long face; high anterior hairline; no short palpebral fissures; no wide nasal bridge; long/protruding ears; no thin upper lip vermilion; prognathism; no inverted nipples; normal fat-distribution; mild motor developmental delay; speech delay; learning problems; increased muscle tone; no behavior abnormalities; no strabismus; short stature (-3SD); short arms; osteoarthritis; muscle cramps; muscle hypertrophy; mild intellectual disability" "" "17y" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279563" "05461" "00385750" "00006" "Familial, autosomal dominant" "42y" "no intrauterine growth retardation; OFC >95th; no long face; high anterior hairline; short palpebral fissures; no wide nasal bridge; no long/protruding ears; thin upper lip vermilion; prognathism; no inverted nipples; normal fat-distribution; no motor developmental delay; no speech delay; no learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; short stature (-2SD); no skeletal abnormalities; osteoarthritis; muscle cramps; no muscle hypertrophy; no intellectual disability" "" "39y" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279564" "05461" "00385751" "00006" "Familial, autosomal dominant" "3y" "no intrauterine growth retardation; 75th pc; no long face; high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; no inverted nipples; abnormal fat-distribution; no motor developmental delay; no speech delay; no learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy" "" "3m" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279565" "05461" "00385752" "00006" "Isolated (sporadic)" "15y" "no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; inverted nipples; abnormal fat-distribution; no motor developmental delay; mild speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; MRI brain persistent cavum septum pellucidum; obesity; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy; mild intellectual disability; eczema, hyper-trichosis" "" "10y" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279566" "05461" "00385753" "00006" "Isolated (sporadic)" "24y" "intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; mild motor developmental delay; no speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; short stature (-3SD); epi-metaphyseal dysplasia; no osteoarthritis; muscle cramps; muscle hypertrophy; moderate intellectual disability; normal pregnancy" "" "22y" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279567" "05461" "00385754" "00006" "Unknown" "18y" "no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; mild motor developmental delay; speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; short stature (-2SD); skeletal abnormalities; no osteoarthritis; no muscle cramps; intellectual disability" "" "8y" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279568" "05461" "00385755" "00006" "Isolated (sporadic)" "12y" "intrauterine growth retardation; OFC 3rd; long face; high anterior hairline; short palpebral fissures; wide nasal bridge; long/protruding ears; thin upper lip vermilion; prognathism; inverted nipples; abnormal fat-distribution; severe motor developmental delay; speech delay, nonverbal; learning problems; increased muscle tone, spastic diplegia; aggressivity; strabismus, retinal dystrophy; MRI brain arachnoid cyst, large posterior fossa; failure to thrive; short stature (-2SD); spondylo-metaphyseal dysplasia brachydactyly; no osteoarthritis; muscle cramps; muscle hypertrophy (biceps/quadriceps); severe intellectual disability; mastoid granulomatosis" "" "7m" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279569" "05461" "00385756" "00006" "Unknown" "27y" "no intrauterine growth retardation; OFC 25th; no long face; high anterior hairline; short palpebral fissures; wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; no motor developmental delay; no speech delay; learning problems; increased muscle tone; no behavior abnormalities; no strabismus; short stature (<-2SD); scoliosis, dysplastic L5 vertebra; no osteoarthritis; no muscle cramps; muscle hypertrophy (biceps/quadriceps); no intellectual disability; easy bruising" "" "14y" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279570" "05461" "00385757" "00006" "Unknown" "39y" "no intrauterine growth retardation; OFC >98th; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; learning problems; aggressivity; no strabismus; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy; mild intellectual disability; delayed puberty dysarthria" "" "28y" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279571" "05461" "00385758" "00006" "Familial, autosomal dominant" "11y" "no intrauterine growth retardation; OFC >99th; long face; high anterior hairline; short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; inverted nipples; normal fat-distribution; mild motor developmental delay; moderate speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; constipation; no short stature; delayed closure of large anterior fontanelle; no osteoarthritis; no muscle cramps; no muscle hypertrophy; moderate intellectual disability; delayed puberty" "" "9m" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279572" "05461" "00385759" "00006" "Familial, autosomal dominant" "7y" "no intrauterine growth retardation; OFC >99th; long face; high anterior hairline; no short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; inverted nipples; normal fat-distribution; moderate motor developmental delay; speech delay, nonverbal; learning problems, autism; no increased muscle tone, hypotonia; no behavior abnormalities; strabismus; MRI brain perinatal subdural hematoma; no short stature; delayed closure of large anterior fontanelle; no osteoarthritis; no muscle cramps; no muscle hypertrophy; severe intellectual disability" "" "7m" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279573" "05461" "00385760" "00006" "Familial, autosomal dominant" "3y" "no intrauterine growth retardation; OFC >99th; no long face; high anterior hairline; short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; mild-moderate motor developmental delay; mild-moderate speech delay; learning problems; no increased muscle tone, hypotonia; no behavior abnormalities; no strabismus; no short stature; large anterior fontanelle; no osteoarthritis; no muscle cramps; no muscle hypertrophy" "" "21d" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279574" "05461" "00385761" "00006" "Unknown" "30y" "no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; –; no increased muscle tone; jaundice; no short stature; no skeletal abnormalities; muscle cramps; no muscle hypertrophy; no intellectual disability; spherocytosis" "" "30y" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279575" "05461" "00385762" "00006" "Familial, autosomal dominant" "3y" "no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; no increased muscle tone; jaundice; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy; spherocytosis" "" "3y" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279576" "05461" "00385763" "00006" "Familial, autosomal recessive" "13y" "no intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, feeding problems, no respiratory difficulties, intellectual disability, cerebellar atrophy, seizures/epilepsy, weak visual tracking, no optic nerve atrophy, hypotonia, gastrointestinal symptoms/G-Tube, no liver involvement, no thrombocytopenia, no genital abnormalities" "" "" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279579" "05461" "00385766" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., microcephaly; developmental delay; intellectual disability; no cerebellar atrophy; seizures; abnormal visual development; optic atrophy; hypotonia; no self-injurious behavior; no sleep disturbance; no stereotypic behaviors; episodic hypothermia, reduced consciousness; failure to thrive; feeding problems; gastrointestinal symptoms/gastrostomy" "" "" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279580" "05461" "00385767" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., no microcephaly; developmental delay; intellectual disability; no cerebellar atrophy; seizures; normal visual development; optic atrophy; hypotonia; no self-injurious behavior; no sleep disturbance; no stereotypic behaviors; episodic hypothermia, reduced consciousness; no failure to thrive; feeding problems; gastrointestinal symptoms/gastrostomy" "" "" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279581" "05461" "00385768" "00006" "Familial, autosomal recessive" "28y" "see paper; ..., microcephaly; developmental delay; intellectual disability; seizures; normal visual development; no hypotonia; no self-injurious behavior; sleep disturbance; stereotypic behaviors; no episodic hypothermia, no reduced consciousness; no failure to thrive; feeding problems; gastrointestinal symptoms/gastrostomy" "" "" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279582" "05461" "00385769" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., no microcephaly; developmental delay; intellectual disability; seizures; normal visual development; no hypotonia; no self-injurious behavior; sleep disturbance; stereotypic behaviors; no episodic hypothermia, no reduced consciousness; no failure to thrive; no feeding problems; no gastrointestinal symptoms/gastrostomy" "" "" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279583" "05461" "00385770" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., microcephaly; developmental delay; intellectual disability; seizures; normal visual development; no hypotonia; self-injurious behavior; no sleep disturbance; stereotypic behaviors; no episodic hypothermia, no reduced consciousness; no failure to thrive; no feeding problems; no gastrointestinal symptoms/gastrostomy" "" "" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000291453" "00290285" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000386975" "00385747" "1" "00006" "00006" "2021-10-14 19:11:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386976" "00385748" "1" "00006" "00006" "2021-10-14 19:11:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386977" "00385749" "1" "00006" "00006" "2021-10-14 19:11:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386978" "00385750" "1" "00006" "00006" "2021-10-14 19:11:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386979" "00385751" "1" "00006" "00006" "2021-10-14 19:11:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386980" "00385752" "1" "00006" "00006" "2021-10-14 19:11:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386981" "00385753" "1" "00006" "00006" "2021-10-14 19:11:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386982" "00385754" "1" "00006" "00006" "2021-10-14 19:11:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386983" "00385755" "1" "00006" "00006" "2021-10-14 19:11:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386984" "00385756" "1" "00006" "00006" "2021-10-14 19:11:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386985" "00385757" "1" "00006" "00006" "2021-10-14 19:11:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386986" "00385758" "1" "00006" "00006" "2021-10-14 19:11:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386987" "00385759" "1" "00006" "00006" "2021-10-14 19:11:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386988" "00385760" "1" "00006" "00006" "2021-10-14 19:11:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386989" "00385761" "1" "00006" "00006" "2021-10-14 19:11:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386990" "00385762" "1" "00006" "00006" "2021-10-14 19:11:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386991" "00385763" "1" "00006" "00006" "2021-10-14 19:22:17" "" "" "SEQ" "DNA" "" "" "0000386994" "00385766" "1" "00006" "00006" "2021-10-15 09:33:58" "" "" "arraySNP;SEQ" "DNA" "" "" "0000386995" "00385767" "1" "00006" "00006" "2021-10-15 09:33:58" "" "" "arraySNP;SEQ" "DNA" "" "" "0000386996" "00385768" "1" "00006" "00006" "2021-10-15 09:33:58" "" "" "arraySNP;SEQ" "DNA" "" "" "0000386997" "00385769" "1" "00006" "00006" "2021-10-15 09:33:58" "" "" "arraySNP;SEQ" "DNA" "" "" "0000386998" "00385770" "1" "00006" "00006" "2021-10-15 09:33:58" "" "" "arraySNP;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{geneid}}" "0000386975" "STT3A" "0000386976" "STT3A" "0000386977" "STT3A" "0000386978" "STT3A" "0000386979" "STT3A" "0000386980" "STT3A" "0000386981" "STT3A" "0000386982" "STT3A" "0000386983" "STT3A" "0000386984" "STT3A" "0000386985" "STT3A" "0000386986" "STT3A" "0000386987" "STT3A" "0000386988" "STT3A" "0000386989" "STT3A" "0000386990" "STT3A" "0000386991" "STT3A" "0000386994" "STT3A" "0000386995" "STT3A" "0000386996" "STT3A" "0000386997" "STT3A" "0000386998" "STT3A" ## 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 = 45 "{{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}}" "0000249781" "0" "50" "11" "125488417" "125488417" "subst" "0" "02325" "STT3A_000001" "g.125488417A>C" "" "" "" "STT3A(NM_001278503.2):c.1924A>C (p.M642L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125618522A>C" "" "VUS" "" "0000349451" "0" "50" "11" "125479347" "125479347" "subst" "0" "02327" "STT3A_000002" "g.125479347C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125609452C>T" "" "VUS" "" "0000542887" "0" "30" "11" "125488261" "125488261" "subst" "0" "01804" "STT3A_000003" "g.125488261C>T" "" "" "" "STT3A(NM_001278503.1):c.1775-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125618366C>T" "" "likely benign" "" "0000542888" "0" "30" "11" "125488261" "125488278" "del" "0.000196616" "01804" "STT3A_000004" "g.125488261_125488278del" "" "" "" "STT3A(NM_001278503.1):c.1775-7_1785del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125618366_125618383del" "" "likely benign" "" "0000542889" "0" "30" "11" "125488263" "125488263" "subst" "0" "01804" "STT3A_000005" "g.125488263C>T" "" "" "" "STT3A(NM_001278503.1):c.1775-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125618368C>T" "" "likely benign" "" "0000542890" "0" "30" "11" "125488264" "125488264" "subst" "0" "01804" "STT3A_000006" "g.125488264C>T" "" "" "" "STT3A(NM_001278503.1):c.1775-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125618369C>T" "" "likely benign" "" "0000542891" "0" "30" "11" "125488282" "125488282" "subst" "0" "01804" "STT3A_000007" "g.125488282C>T" "" "" "" "STT3A(NM_001278503.1):c.1789C>T (p.(Leu597Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125618387C>T" "" "likely benign" "" "0000648142" "1" "10" "11" "125482982" "125482982" "subst" "0.0179648" "03575" "STT3A_000008" "g.125482982T>C" "13/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs34079079}" "Germline" "" "rs34079079" "0" "" "" "g.125613087T>C" "" "benign" "" "0000690979" "0" "30" "11" "125484299" "125484299" "subst" "0.000239668" "01943" "STT3A_000009" "g.125484299C>G" "" "" "" "STT3A(NM_001278503.1):c.1752C>G (p.G584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723289" "0" "50" "11" "125476365" "125476365" "subst" "0.000778278" "01943" "STT3A_000010" "g.125476365G>A" "" "" "" "STT3A(NM_001278503.1):c.780+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804976" "0" "70" "11" "125479352" "125479352" "subst" "0" "02327" "STT3A_000011" "g.125479352C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000814824" "0" "90" "11" "125484064" "125484064" "subst" "0" "00006" "STT3A_000018" "g.125484064C>T" "" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125614169C>T" "" "pathogenic (dominant)" "" "0000814825" "21" "90" "11" "125484064" "125484064" "subst" "0" "00006" "STT3A_000018" "g.125484064C>T" "" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125614169C>T" "" "pathogenic (dominant)" "" "0000814826" "21" "90" "11" "125484064" "125484064" "subst" "0" "00006" "STT3A_000018" "g.125484064C>T" "" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125614169C>T" "" "pathogenic (dominant)" "" "0000814827" "0" "90" "11" "125484016" "125484016" "subst" "0" "00006" "STT3A_000017" "g.125484016A>C" "" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125614121A>C" "" "pathogenic (dominant)" "" "0000814828" "11" "90" "11" "125484016" "125484016" "subst" "0" "00006" "STT3A_000017" "g.125484016A>C" "" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125614121A>C" "" "pathogenic (dominant)" "" "0000814829" "0" "90" "11" "125467002" "125467002" "subst" "0" "00006" "STT3A_000013" "g.125467002A>G" "" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "" "" "" "De novo" "" "" "0" "" "" "g.125597107A>G" "" "pathogenic (dominant)" "" "0000814830" "0" "90" "11" "125474113" "125474113" "subst" "0" "00006" "STT3A_000014" "g.125474113G>A" "" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "" "" "" "De novo" "" "" "0" "" "" "g.125604218G>A" "" "pathogenic (dominant)" "" "0000814831" "0" "90" "11" "125482490" "125482490" "subst" "0" "00006" "STT3A_000015" "g.125482490C>T" "" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.125612595C>T" "" "pathogenic (dominant)" "" "0000814832" "0" "90" "11" "125482490" "125482490" "subst" "0" "00006" "STT3A_000015" "g.125482490C>T" "" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "" "" "" "De novo" "" "" "0" "" "" "g.125612595C>T" "" "pathogenic (dominant)" "" "0000814833" "0" "90" "11" "125482490" "125482490" "subst" "0" "00006" "STT3A_000015" "g.125482490C>T" "" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.125612595C>T" "" "pathogenic (dominant)" "" "0000814834" "0" "90" "11" "125482491" "125482491" "subst" "0" "00006" "STT3A_000016" "g.125482491G>A" "" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.125612596G>A" "" "pathogenic (dominant)" "" "0000814835" "11" "90" "11" "125482491" "125482491" "subst" "0" "00006" "STT3A_000016" "g.125482491G>A" "" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125612596G>A" "" "pathogenic (dominant)" "" "0000814836" "11" "90" "11" "125482491" "125482491" "subst" "0" "00006" "STT3A_000016" "g.125482491G>A" "" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125612596G>A" "" "pathogenic (dominant)" "" "0000814837" "11" "90" "11" "125482491" "125482491" "subst" "0" "00006" "STT3A_000016" "g.125482491G>A" "" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125612596G>A" "" "pathogenic (dominant)" "" "0000814838" "0" "90" "11" "125479352" "125479352" "subst" "0" "00006" "STT3A_000011" "g.125479352C>T" "" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.125609457C>T" "" "pathogenic (dominant)" "" "0000814839" "21" "90" "11" "125479352" "125479352" "subst" "0" "00006" "STT3A_000011" "g.125479352C>T" "" "{PMID:Wilson 2021:34653363}, {DOI:Wilson 2021:10.1016/j.ajhg.2021.09.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125609457C>T" "" "pathogenic (dominant)" "" "0000814840" "3" "90" "11" "125488370" "125488370" "subst" "0" "00006" "STT3A_000012" "g.125488370T>C" "" "{PMID:Shrimal 2013:23842455}" "" "" "" "Germline" "" "" "0" "" "" "g.125618475T>C" "" "pathogenic (recessive)" "" "0000814843" "3" "90" "11" "125488370" "125488370" "subst" "0" "00006" "STT3A_000012" "g.125488370T>C" "" "{PMID:Ghosh 2017:28424003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125618475T>C" "" "pathogenic (recessive)" "" "0000814844" "3" "90" "11" "125488370" "125488370" "subst" "0" "00006" "STT3A_000012" "g.125488370T>C" "" "{PMID:Ghosh 2017:28424003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125618475T>C" "" "pathogenic (recessive)" "" "0000814845" "3" "90" "11" "125488370" "125488370" "subst" "0" "00006" "STT3A_000012" "g.125488370T>C" "" "{PMID:Ghosh 2017:28424003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125618475T>C" "" "pathogenic (recessive)" "" "0000814846" "3" "90" "11" "125488370" "125488370" "subst" "0" "00006" "STT3A_000012" "g.125488370T>C" "" "{PMID:Ghosh 2017:28424003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125618475T>C" "" "pathogenic (recessive)" "" "0000814847" "3" "90" "11" "125488370" "125488370" "subst" "0" "00006" "STT3A_000012" "g.125488370T>C" "" "{PMID:Ghosh 2017:28424003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125618475T>C" "" "pathogenic (recessive)" "" "0000925341" "0" "70" "11" "125474113" "125474113" "subst" "0" "02325" "STT3A_000014" "g.125474113G>A" "" "" "" "STT3A(NM_001278503.2):c.479G>A (p.R160Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979427" "0" "50" "11" "125483052" "125483052" "subst" "0" "01804" "STT3A_000019" "g.125483052C>T" "" "" "" "STT3A(NM_152713.5):c.1534C>T (p.(Leu512Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979428" "0" "30" "11" "125484215" "125484215" "subst" "3.24981E-5" "01804" "STT3A_000020" "g.125484215C>T" "" "" "" "STT3A(NM_152713.5):c.1672-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979429" "0" "50" "11" "125488415" "125488415" "subst" "0" "01804" "STT3A_000021" "g.125488415A>G" "" "" "" "STT3A(NM_152713.5):c.1922A>G (p.(Lys641Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998841" "0" "90" "11" "125488370" "125488370" "subst" "0" "01804" "STT3A_000012" "g.125488370T>C" "" "" "" "STT3A(NM_152713.4):c.1877T>C (p.(Val626Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000998842" "0" "50" "11" "125488373" "125488373" "subst" "1.21834E-5" "01804" "STT3A_000022" "g.125488373A>G" "" "" "" "STT3A(NM_152713.4):c.1880A>G (p.(Asp627Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998843" "0" "30" "11" "125490677" "125490677" "subst" "1.23078E-5" "01804" "ACRV1_000001" "g.125490677T>C" "" "" "" "STT3A(NM_152713.4):c.2090T>C (p.(Leu697Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014763" "0" "50" "11" "125478024" "125478024" "subst" "2.46674E-5" "02325" "STT3A_000023" "g.125478024C>A" "" "" "" "STT3A(NM_001278503.2):c.801C>A (p.H267Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014764" "0" "50" "11" "125488441" "125488441" "subst" "3.27689E-5" "02325" "STT3A_000024" "g.125488441G>A" "" "" "" "STT3A(NM_001278503.2):c.1948G>A (p.V650I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038305" "0" "50" "11" "125478108" "125478109" "del" "0" "01804" "STT3A_000025" "g.125478108_125478109del" "" "" "" "STT3A(NM_152713.5):c.885_886del (p.(Phe295Leufs*45))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038306" "0" "50" "11" "125483986" "125483986" "subst" "5.28395E-5" "01804" "STT3A_000026" "g.125483986C>T" "" "" "" "STT3A(NM_152713.5):c.1559C>T (p.(Ala520Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038307" "0" "50" "11" "125483986" "125483986" "subst" "5.28395E-5" "02327" "STT3A_000026" "g.125483986C>T" "" "" "" "STT3A(NM_152713.5):c.1559C>T (p.(Ala520Val))" "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 STT3A ## Count = 45 "{{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}}" "0000249781" "00025642" "50" "1924" "0" "1924" "0" "c.1924A>C" "r.(?)" "p.(Met642Leu)" "" "0000349451" "00025642" "50" "980" "0" "980" "0" "c.980C>T" "r.(?)" "p.(Thr327Met)" "" "0000542887" "00025642" "30" "1775" "-7" "1775" "-7" "c.1775-7C>T" "r.(=)" "p.(=)" "" "0000542888" "00025642" "30" "1775" "-7" "1785" "0" "c.1775-7_1785del" "r.spl?" "p.?" "" "0000542889" "00025642" "30" "1775" "-5" "1775" "-5" "c.1775-5C>T" "r.spl?" "p.?" "" "0000542890" "00025642" "30" "1775" "-4" "1775" "-4" "c.1775-4C>T" "r.spl?" "p.?" "" "0000542891" "00025642" "30" "1789" "0" "1789" "0" "c.1789C>T" "r.(?)" "p.(Leu597Phe)" "" "0000648142" "00025642" "10" "1464" "0" "1464" "0" "c.1464T>C" "r.(=)" "p.(=)" "" "0000690979" "00025642" "30" "1752" "0" "1752" "0" "c.1752C>G" "r.(?)" "p.(Gly584=)" "" "0000723289" "00025642" "50" "780" "5" "780" "5" "c.780+5G>A" "r.spl?" "p.?" "" "0000804976" "00025642" "70" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Arg329Cys)" "" "0000814824" "00025642" "90" "1637" "0" "1637" "0" "c.1637C>T" "r.(?)" "p.(Thr546Ile)" "" "0000814825" "00025642" "90" "1637" "0" "1637" "0" "c.1637C>T" "r.(?)" "p.(Thr546Ile)" "" "0000814826" "00025642" "90" "1637" "0" "1637" "0" "c.1637C>T" "r.(?)" "p.(Thr546Ile)" "" "0000814827" "00025642" "90" "1589" "0" "1589" "0" "c.1589A>C" "r.(?)" "p.(Tyr530Ser)" "" "0000814828" "00025642" "90" "1589" "0" "1589" "0" "c.1589A>C" "r.(?)" "p.(Tyr530Ser)" "" "0000814829" "00025642" "90" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(His46Arg)" "" "0000814830" "00025642" "90" "479" "0" "479" "0" "c.479G>A" "r.(?)" "p.(Arg160Gln)" "" "0000814831" "00025642" "90" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Arg405Cys)" "" "0000814832" "00025642" "90" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Arg405Cys)" "" "0000814833" "00025642" "90" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Arg405Cys)" "" "0000814834" "00025642" "90" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Arg405His)" "" "0000814835" "00025642" "90" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Arg405His)" "" "0000814836" "00025642" "90" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Arg405His)" "" "0000814837" "00025642" "90" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Arg405His)" "" "0000814838" "00025642" "90" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Arg329Cys)" "" "0000814839" "00025642" "90" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Arg329Cys)" "" "0000814840" "00025642" "90" "1877" "0" "1877" "0" "c.1877T>C" "r.(?)" "p.(Val626Ala)" "" "0000814843" "00025642" "90" "1877" "0" "1877" "0" "c.1877T>C" "r.(?)" "p.(Val626Ala)" "" "0000814844" "00025642" "90" "1877" "0" "1877" "0" "c.1877T>C" "r.(?)" "p.(Val626Ala)" "" "0000814845" "00025642" "90" "1877" "0" "1877" "0" "c.1877T>C" "r.(?)" "p.(Val626Ala)" "" "0000814846" "00025642" "90" "1877" "0" "1877" "0" "c.1877T>C" "r.(?)" "p.(Val626Ala)" "" "0000814847" "00025642" "90" "1877" "0" "1877" "0" "c.1877T>C" "r.(?)" "p.(Val626Ala)" "" "0000925341" "00025642" "70" "479" "0" "479" "0" "c.479G>A" "r.(?)" "p.(Arg160Gln)" "" "0000979427" "00025642" "50" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Leu512Phe)" "" "0000979428" "00025642" "30" "1672" "-4" "1672" "-4" "c.1672-4C>T" "r.spl?" "p.?" "" "0000979429" "00025642" "50" "1922" "0" "1922" "0" "c.1922A>G" "r.(?)" "p.(Lys641Arg)" "" "0000998841" "00025642" "90" "1877" "0" "1877" "0" "c.1877T>C" "r.(?)" "p.(Val626Ala)" "" "0000998842" "00025642" "50" "1880" "0" "1880" "0" "c.1880A>G" "r.(?)" "p.(Asp627Gly)" "" "0000998843" "00025642" "30" "2090" "0" "2090" "0" "c.2090T>C" "r.(?)" "p.(Leu697Pro)" "" "0001014763" "00025642" "50" "801" "0" "801" "0" "c.801C>A" "r.(?)" "p.(His267Gln)" "" "0001014764" "00025642" "50" "1948" "0" "1948" "0" "c.1948G>A" "r.(?)" "p.(Val650Ile)" "" "0001038305" "00025642" "50" "885" "0" "886" "0" "c.885_886del" "r.(?)" "p.(Phe295Leufs*45)" "" "0001038306" "00025642" "50" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Ala520Val)" "" "0001038307" "00025642" "50" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Ala520Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000291453" "0000648142" "0000386975" "0000814824" "0000386976" "0000814825" "0000386977" "0000814826" "0000386978" "0000814827" "0000386979" "0000814828" "0000386980" "0000814829" "0000386981" "0000814830" "0000386982" "0000814831" "0000386983" "0000814832" "0000386984" "0000814833" "0000386985" "0000814834" "0000386986" "0000814835" "0000386987" "0000814836" "0000386988" "0000814837" "0000386989" "0000814838" "0000386990" "0000814839" "0000386991" "0000814840" "0000386994" "0000814843" "0000386995" "0000814844" "0000386996" "0000814845" "0000386997" "0000814846" "0000386998" "0000814847"