### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CHST14) # 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}}" "CHST14" "carbohydrate sulfotransferase 14" "15" "q15.1" "unknown" "NG_017074.1" "UD_132118497731" "" "https://www.LOVD.nl/CHST14" "" "1" "24464" "113189" "608429" "1" "1" "1" "1" "" "" "g" "https://databases.lovd.nl/shared/refseq/CHST14_codingDNA.html" "1" "" "

Ehlers Danlos Syndrome Variant Database

\r\n\r\n\r\n
\r\n
" "-1" "" "-1" "00001" "2012-10-15 00:00:00" "00085" "2024-02-13 14:08:45" "00006" "2025-06-05 20:02:52" ## 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}}" "00005169" "CHST14" "carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14" "001" "NM_130468.3" "" "NP_569735.1" "" "" "" "-253" "1945" "1131" "40763160" "40765357" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00169" "EDS" "Ehlers-Danlos syndrome (EDS)" "" "" "" "" "" "00006" "2013-08-01 11:03:44" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00993" "EDSMC1" "Ehlers-Danlos, musculocontractural syndrome, type 1 (EDSMC1 EDSVIB EDS6B)" "AR" "601776" "" "" "Formerly known as EDS6B, adducted thumb clubfoot syndrome." "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05753" "EDSMC" "Ehlers-Danlos, musculocontractural syndrome (EDSMC)" "" "" "" "" "" "00006" "2020-05-19 16:09:03" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CHST14" "00993" "CHST14" "05753" ## Individuals ## Do not remove or alter this header ## ## Count = 35 "{{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}}" "00291189" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301626" "" "" "" "1" "" "01819" "{PMID:Syx 2015:25703627}" "" "M" "yes" "" "" "0" "" "" "Asia" "Fam1P1" "00301627" "" "" "" "1" "" "01819" "{PMID:Syx 2015:25703627}" "" "F" "no" "" "" "0" "" "" "Curacao" "Fam2P2" "00301628" "" "" "" "1" "" "01819" "{PMID:Syx 2015:25703627}" "" "M" "yes" "Morocco" "" "0" "" "" "" "Fam3P3" "00301629" "" "" "" "2" "" "01819" "{PMID:Syx 2015:25703627}" "2-generation family, 2 affected brothers. This patient has an affected brother (AN_001991) who is homozygous for the same variant." "M" "yes" "" "" "0" "" "" "Asia" "Fam4P4" "00301630" "" "" "00301629" "1" "" "01819" "{PMID:Syx 2015:25703627}" "" "M" "yes" "" "" "0" "" "" "Asia" "Fam4P5" "00319464" "" "" "" "2" "" "00085" "{PMID:Alazami 2016:27023906}" "There are two affected individuals in this family.The formal ID for this family is 12DG0445.The technique used was whole exome sequencing." "" "" "Saudi Arabia" "" "0" "" "" "" "Family 12" "00319465" "" "" "" "1" "" "00085" "{PMID:Malfait et al., 2010:20842734}" "There are two affected siblings in this family." "" "" "Turkey" "" "0" "" "" "Turkish" "Family1" "00319466" "" "" "" "1" "" "00085" "{PMID:Dündar et al., 2009:20004762}" "The variant in this family is incorrectly described as c.145_146delG. Three individuals were reported to carry the variants and phenotype in this family. This family has been previously described by {PMID9084938:Dündar et al., 1997}." "" "" "Turkey" "" "0" "" "" "Turkish" "Family 3" "00319467" "" "" "" "1" "" "00085" "{PMID:Voermans et al., 2012:22407744}" "The variant is incorrectly presented in the paper, but the true variant details have been confirmed with the authors. A corrigendum has been submitted to the journal." "" "" "" "" "0" "" "" "" "" "00319468" "" "" "" "1" "" "00085" "{PMID:Miyake et al., 2010:20533528}" "This patient was previuosly described by {PMID:Yasui et al., 2003:12508273}." "" "" "Japan" "" "0" "" "" "Japanese" "F4-II1" "00319469" "" "" "" "1" "" "00085" "{PMID:Dündar et al., 2009:20004762}" "This family was previously reported by {PMID:Dündar et al., 2001:11666007}. Four individuals were reported in this family as carrying the variants and phenotype." "" "" "Turkey" "" "0" "" "" "Turkish" "Family 2" "00319470" "" "" "" "1" "" "00085" "{PMID:Janecke et al., 2016:26373698}" "This family was first reported in {PMID:Steinmann et al., 1975:1184396}. The patient has a sibling (P2/I) who also carries the variants and phenotype, and 2 healthy younger brothers." "" "" "Pakistan" "" "0" "" "" "Pakistani" "P1/I" "00319471" "" "" "" "1" "" "00085" "{PMID:Shimizu et al., 2011:21744491}" "This patient is also referred to as Family 8, Patient 8 in tables I and II. They were originally diagnosed with EDS Kosho Type." "" "" "Japan" "" "0" "" "" "Japanese" "Patient 2" "00319472" "" "" "" "1" "" "00085" "{PMID:Kono et al., 2016:26925854}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00319473" "" "" "" "1" "" "00085" "{PMID:Dündar et al., 2009:20004762}" "This family was previously described by {PMID:Janecke et al., 2001:11370633}." "" "" "Austria" "" "0" "" "" "Austrian" "Family 1" "00319474" "" "" "" "1" "" "00085" "{PMID:Janecke et al., 2016:26373698}" "" "" "" "" "" "0" "" "" "Hispanic" "P3/II" "00319475" "" "" "" "1" "" "00085" "{PMID:Winters et al., 2012:22987394}" "The published account incorrectly describes the variant at the protein level.The patient was previously misdiagnosed as having Marden-Walker syndrome." "" "" "" "" "0" "" "" "Miccosukee" "" "00319476" "" "" "" "1" "" "00085" "{PMID:Janecke et al., 2016:26373698}" "The patient has an affected brother who also carries the same variants. Their parents are heterozygous for the variants." "" "" "" "" "0" "" "" "Hispanic" "P6/IV" "00319477" "" "" "" "1" "" "00085" "{PMID:Mendoza-Londono et al., 2012:22581468}" "The patient has a sister who is also homozygous for the mutation." "" "" "Afghanistan" "" "0" "" "" "Afghani" "Patient 1" "00319478" "" "" "" "1" "" "00085" "{PMID:Miyake et al., 2010:20533528}" "This patient was previously described by {PMID:Kosho et al., 2005:16158441}." "" "" "Japan" "" "0" "" "" "Japanese" "F2-II3" "00319479" "" "" "" "1" "" "00085" "{PMID:Miyake et al., 2010:20533528}" "" "" "" "Japan" "" "0" "" "" "Japanese" "F3-II1" "00319480" "" "" "" "1" "" "00085" "{PMID:Miyake et al., 2010:20533528}" "" "" "" "Japan" "" "0" "" "" "Japanese" "F6-II1" "00319481" "" "" "" "1" "" "00085" "{PMID:Miyake et al., 2010:20533528}" "This patient has previously been described by {PMID:Kosho et al., 2005:16158441}." "" "" "Japan" "" "0" "" "" "Japanese" "F1-II1" "00319482" "" "" "" "1" "" "00085" "{PMID:Miyake et al., 2010:20533528}" "" "" "" "Japan" "" "0" "" "" "Japanese" "F5-II1" "00319483" "" "" "" "1" "" "00085" "{PMID:Shimizu et al., 2011:21744491}" "This patient is also referred to as Family 7, Patient 7 in tables I and II. They were originally diagnosed with EDS Kosho Type." "" "" "Japan" "" "0" "" "" "Japanese" "Patient 1" "00319484" "" "" "" "1" "" "00085" "{PMID:Mochida et al., 2016:26872206}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00319485" "" "" "" "1" "" "00085" "{PMID:Dündar et al., 2009:20004762}" "This family was previously described by {PMID:Sonoda and Kouno, 2000:10766984}. Two brothers were reported to carry the variants and phenotype." "" "" "Japan" "" "0" "" "" "Japanese" "Family 4" "00319486" "" "" "" "1" "" "00085" "{PMID:Janecke et al., 2016:26373698}" "The patient has a younger brother (P5/III) who also carries the variants and phenotype. Their mother was heterozygous for the variant, and DNA from the father was unavailable for analysis." "" "" "" "" "0" "" "" "Hispanic" "P4/III" "00319487" "" "" "" "1" "" "00085" "{PMID:Malfait et al., 2010:20842734}" "" "" "" "India" "" "0" "" "" "Indian" "Family 2" "00331359" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (F, M)" "F;M" "yes" "" "" "0" "" "" "Arab" "10DG0445, 10DG0446" "00361601" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "10DG0445" "00428047" "" "" "" "1" "" "04305" "{PMID:Sandal et al., 2018:30249733}" "" "M" "yes" "India" "" "" "" "" "" "1" "00457355" "" "" "" "2" "" "04693" "{PMID:Ks 2024:38881098}" "Two siblings with homozygous CHST14 variants and musculocontractural EDS.\r\nSkin biopsy showed a thinned-out dermis with loose collagen fibers, dilated capillaries, increase in fibroblasts, and absence of elastic fibers." "F" "no" "India" "" "0" "" "" "India-N" "FamPat1" "00457442" "" "" "00457355" "1" "" "04693" "{PMID:Ks 2024:38881098}" "sib" "M" "no" "India" "" "0" "" "" "India-N" "FamPat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 59 "{{individualid}}" "{{diseaseid}}" "00291189" "00198" "00301626" "00169" "00301627" "00169" "00301628" "00169" "00301629" "00169" "00301630" "00169" "00319464" "00169" "00319464" "05753" "00319465" "00169" "00319465" "00993" "00319466" "00169" "00319466" "00993" "00319467" "00169" "00319467" "00993" "00319468" "00169" "00319468" "00993" "00319469" "00169" "00319469" "00993" "00319470" "00169" "00319470" "05753" "00319471" "00169" "00319471" "00993" "00319472" "00169" "00319472" "05753" "00319473" "00169" "00319473" "00993" "00319474" "00169" "00319474" "05753" "00319475" "00169" "00319475" "00993" "00319476" "00169" "00319476" "05753" "00319477" "00169" "00319477" "05753" "00319478" "00169" "00319478" "00993" "00319479" "00169" "00319479" "00993" "00319480" "00169" "00319480" "00993" "00319481" "00169" "00319481" "00993" "00319482" "00169" "00319482" "00993" "00319483" "00169" "00319483" "00993" "00319484" "00169" "00319484" "00993" "00319485" "00169" "00319485" "00993" "00319486" "00169" "00319486" "05753" "00319487" "00169" "00319487" "00993" "00331359" "05517" "00361601" "00139" "00428047" "05753" "00457355" "00993" "00457442" "00993" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00169, 00198, 00993, 05517, 05753 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{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}}" "0000228726" "00169" "00301626" "01819" "Familial, autosomal recessive" "20y" "see paper; ..., large fontanel; blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; no short palpebral fissures; no short nose with hypoplastic columella; long philtrum; thin upper lip vermilion; no palatal abnormalities; small mouth; microretrognathia; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; joint hypermobility; muscular hypotonia; kyphoscoliosis; tapering fingers / toes; joint dislocations; no pectus deformity; congenital hip dislocation; hyperextensible skin; thin, fragile, transparent skin; easy bruising; large, subcutaneous haematoma; atrophic scarring; no delayed wound healing; fine palmar creases; no myopia; retinal detachment; no microcornea; no neurologic abnormalities; cardiovascular abnormalities; valvular abnormality; kidney abnormalities; hydronephrosis; bowel dysfunction; cryptorchidism; hernia; no hearing abnormalities" "" "" "" "" "" "" "" "" "" "" "" "" "EDSMC1" "musculocontractural EDS" "" "0000228727" "00169" "00301627" "01819" "Familial, autosomal recessive" "36y" "see paper; ..., blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; no short palpebral fissures; short nose with hypoplastic columella; no long philtrum; no thin upper lip vermilion; no palatal abnormalities; no small mouth; no microretrognathia; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; no joint hypermobility; muscular hypotonia; kyphoscoliosis; tapering fingers / toes; joint dislocations; no pectus deformity; hyperextensible skin; thin, fragile, transparent skin; easy bruising; large, subcutaneous haematoma; atrophic scarring; delayed wound healing; fine palmar creases; no myopia; no retinal detachment; microcornea; no cardiovascular abnormalities; no kidney abnormalities; bowel dysfunction; no hearing abnormalities" "" "" "" "" "" "" "" "" "" "" "" "" "EDSMC1" "musculocontractural EDS" "" "0000228728" "00169" "00301628" "01819" "Familial, autosomal recessive" "6y" "see paper; ..., large fontanel; blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; short palpebral fissures; short nose with hypoplastic columella; no long philtrum; thin upper lip vermilion; palatal abnormalities; small mouth; microretrognathia; midfacial hypoplasia; ear deformities; multiple congenital contractures; flexed/adducted thumbs; talipes equinovarus; contractures fingers; hyperextensible skin; thin, fragile, transparent skin; easy bruising; no atrophic scarring; no delayed wound healing; fine palmar creases; no myopia; no retinal detachment; no microcornea; neurologic abnormalities; ventricular defect; hypoplasia septum pellucidum; Dandy‐Walker anomaly; no cardiovascular abnormalities; kidney abnormalities; hydronephrosis; bowel dysfunction; cryptorchidism; hernia; hearing abnormalities" "" "" "" "" "" "" "" "" "" "" "" "" "EDSMC1" "musculocontractural EDS" "" "0000228729" "00169" "00301629" "01819" "Familial, autosomal recessive" "23y" "see paper; ..., blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; short palpebral fissures; no short nose with hypoplastic columella; long philtrum; no thin upper lip vermilion; palatal abnormalities; small mouth; microretrognathia; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; joint hypermobility; kyphoscoliosis; tapering fingers / toes; joint dislocations; congenital hip dislocation; hyperextensible skin; large, subcutaneous haematoma; atrophic scarring; fine palmar creases; myopia; retinal detachment; microcornea; no cardiovascular abnormalities; cryptorchidism" "" "" "" "" "" "" "" "" "" "" "" "" "EDSMC1" "musculocontractural EDS" "" "0000228730" "00169" "00301630" "01819" "Familial, autosomal recessive" "18y" "see paper; ..., blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; short palpebral fissures; no short nose with hypoplastic columella; long philtrum; no thin upper lip vermilion; palatal abnormalities; small mouth; microretrognathia; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; joint hypermobility; kyphoscoliosis; tapering fingers / toes; joint dislocations; congenital hip dislocation; hyperextensible skin; large, subcutaneous haematoma; atrophic scarring; fine palmar creases; myopia; microcornea; cardiovascular abnormalities; atrial septum defect; cryptorchidism; hearing abnormalities" "" "" "" "" "" "" "" "" "" "" "" "" "EDSMC1" "musculocontractural EDS" "" "0000249551" "05517" "00331359" "00000" "Familial, autosomal recessive" "" "Intellectual disability, Hearing impairment, Ectrodactyly, Joint laxity" "" "" "" "" "" "" "" "" "" "" "" "" "Sulphation disorders group" "skeletal dysplasia" "" "0000257006" "00139" "00361601" "00006" "Familial, autosomal recessive" "6y" "syndromic; intellectual disability, hearing impairment, cleft foot, hyperlaxity" "" "" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000318993" "05753" "00428047" "04305" "Familial" "03y" "Bilateral hydronephrosis with bilateral pelviureteric junction obstruction (right >left). Facial dysmorphism, bilateral cryptorchidism. Bilateral talipes equinovarus." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000345849" "00993" "00457355" "04693" "Familial, autosomal recessive" "12y" "Delayed gross motor development (HP:0002194); joint hypermobility (HP:0001382); hyperextensible skin (HP:0000974); atrophic scars (HP:0001075); hip dislocation (HP:0002827); scoliosis (HP:0002650); myopia (HP:0000545); developmental glaucoma (HP:0001087); cutis laxa (HP:0000973); atrophic scars (HP:0001075); downslanted palpebral fissures (HP:0000494); hooded eyelid (HP:0030820); depressed nasal bridge (HP:0005280); broad nasal tip (HP:0000455); long philtrum (HP:0000343); protruding ears (HP:0000411); round face (HP:0000311); slender finger (HP:0001238); slender toe (HP:0011308); multiple joint contractures (HP:0002828)." "02y03m" "" "" "" "" "12y" "Delayed gross motor development (HP:0002194)" "" "" "" "" "" "EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1; EDSMC1" "" "" "0000345906" "00993" "00457442" "04693" "Familial, autosomal recessive" "09y" "Delayed gross motor development (HP:0002194); joint hypermobility (HP:0001382); hyperextensible skin (HP:0000974); atrophic scars (HP:0001075); inguinal hernia (HP:0000023); bilateral cryptorchidism (HP:0008689); cutis laxa (HP:0000973); atrophic scars (HP:0001075); downslanted palpebral fissures (HP:0000494); hooded eyelid (HP:0030820); depressed nasal bridge (HP:0005280); broad nasal tip (HP:0000455); long philtrum (HP:0000343); protruding ears (HP:0000411); round face (HP:0000311); slender finger (HP:0001238); slender toe (HP:0011308); multiple joint contractures (HP:0002828)." "01y10m" "" "" "" "" "09y" "Delayed gross motor development (HP:0002194)" "" "" "" "" "" "EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1; EDSMC1" "" "" "0000351260" "00169" "00319464" "00006" "Familial, autosomal recessive" "" "skin and joint laxity, developmental delay, failure to thrive, short stature, dysmorphic features (wide forehead, severe malar hypoplasia, and saggy cheeks), strabismus, decreased hearing, easy bruising, scoliosis, bilateral TEV, arthrogryposis and decreased bone density" "" "" "" "" "" "" "" "" "" "" "" "" "EDSMC1" "Ehlers-Danlos syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 35 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000292357" "00291189" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302751" "00301626" "1" "01819" "00006" "2020-05-19 18:48:52" "" "" "SEQ" "DNA" "" "" "0000302752" "00301627" "1" "01819" "00006" "2020-05-19 18:48:52" "" "" "SEQ" "DNA" "" "" "0000302753" "00301628" "1" "01819" "00006" "2020-05-19 18:48:52" "" "" "SEQ" "DNA" "" "" "0000302754" "00301629" "1" "01819" "00006" "2020-05-19 18:48:52" "" "" "SEQ" "DNA" "" "" "0000302755" "00301630" "1" "01819" "00006" "2020-05-19 18:48:52" "" "" "SEQ" "DNA" "" "" "0000320645" "00319464" "1" "00085" "00085" "2019-08-27 11:07:37" "00085" "2019-08-27 11:10:23" "SEQ;SEQ-NG" "DNA" "" "" "0000320646" "00319465" "1" "00085" "00085" "2012-10-15 13:36:54" "" "" "SEQ" "DNA" "" "" "0000320647" "00319466" "1" "00085" "00085" "2012-10-15 14:10:33" "00085" "2020-06-02 14:16:18" "SEQ" "DNA" "" "" "0000320648" "00319467" "1" "00085" "00085" "2012-10-24 08:39:17" "" "" "PCR;SEQ" "DNA" "" "" "0000320649" "00319468" "1" "00085" "00085" "2012-10-15 11:43:49" "00085" "2012-10-15 13:06:33" "SEQ" "DNA" "" "" "0000320650" "00319469" "1" "00085" "00085" "2012-10-15 14:04:47" "00085" "2020-06-02 14:15:26" "SEQ" "DNA" "" "" "0000320651" "00319470" "1" "00085" "00085" "2020-06-02 15:58:52" "00085" "2020-06-03 09:35:48" "SEQ" "DNA" "" "" "0000320652" "00319471" "1" "00085" "00085" "2012-11-06 09:22:54" "00085" "2020-07-31 11:38:20" "PCR;SEQ" "DNA" "" "" "0000320653" "00319472" "1" "00085" "00085" "2020-06-03 09:40:44" "" "" "SEQ" "DNA" "" "" "0000320654" "00319473" "1" "00085" "00085" "2012-10-15 13:56:45" "00085" "2012-10-15 14:12:03" "SEQ" "DNA" "" "" "0000320655" "00319474" "1" "00085" "00085" "2020-06-02 16:03:44" "00085" "2020-06-03 09:36:17" "SEQ" "DNA" "" "" "0000320656" "00319475" "1" "00085" "00085" "2012-10-22 15:53:57" "00085" "2012-10-22 15:54:46" "PCR;SEQ" "DNA" "" "" "0000320657" "00319476" "1" "00085" "00085" "2020-06-02 16:10:08" "00085" "2020-06-03 09:36:41" "SEQ" "DNA" "" "" "0000320658" "00319477" "1" "00085" "00085" "2012-11-06 08:53:10" "00085" "2012-11-06 08:55:27" "PCR;SEQ" "DNA" "" "" "0000320659" "00319478" "1" "00085" "00085" "2012-10-15 11:43:49" "00085" "2012-10-15 13:40:43" "SEQ" "DNA" "" "" "0000320660" "00319479" "1" "00085" "00085" "2012-10-15 11:43:49" "00085" "2012-10-15 13:07:56" "SEQ" "DNA" "" "" "0000320661" "00319480" "1" "00085" "00085" "2012-10-15 11:43:49" "00085" "2012-10-15 13:07:05" "SEQ" "DNA" "" "" "0000320662" "00319481" "1" "00085" "00085" "2012-10-15 11:43:49" "00085" "2012-10-15 13:07:21" "SEQ" "DNA" "" "" "0000320663" "00319482" "1" "00085" "00085" "2012-10-15 11:43:49" "00085" "2012-10-15 13:08:18" "SEQ" "DNA" "" "" "0000320664" "00319483" "1" "00085" "00085" "2012-11-06 09:19:10" "00085" "2020-07-31 11:38:44" "PCR;SEQ" "DNA" "" "" "0000320665" "00319484" "1" "00085" "00085" "2016-02-17 08:32:25" "00085" "2016-02-17 08:36:04" "SEQ" "DNA" "" "" "0000320666" "00319485" "1" "00085" "00085" "2012-10-15 14:18:45" "00085" "2020-06-02 14:16:54" "SEQ" "DNA" "" "" "0000320667" "00319486" "1" "00085" "00085" "2020-06-02 16:07:03" "00085" "2020-06-03 09:36:59" "SEQ" "DNA" "" "" "0000320668" "00319487" "1" "00085" "00085" "2012-10-15 13:39:00" "" "" "SEQ" "DNA" "" "" "0000332578" "00331359" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000362829" "00361601" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000429460" "00428047" "1" "04305" "04305" "2022-12-20 02:02:34" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000459007" "00457355" "1" "04693" "04693" "2024-11-08 17:22:47" "" "" "SEQ-NG" "DNA" "" "Clinical exome sequencing" "0000459063" "00457442" "1" "04693" "04693" "2024-11-08 17:22:47" "" "" "SEQ-NG" "DNA" "" "Clinical exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{geneid}}" "0000302751" "CHST14" "0000302752" "CHST14" "0000302753" "CHST14" "0000302754" "CHST14" "0000302755" "CHST14" "0000320645" "CHST14" "0000320646" "CHST14" "0000320647" "CHST14" "0000320648" "CHST14" "0000320649" "CHST14" "0000320650" "CHST14" "0000320651" "CHST14" "0000320652" "CHST14" "0000320653" "CHST14" "0000320654" "CHST14" "0000320655" "CHST14" "0000320656" "CHST14" "0000320657" "CHST14" "0000320658" "CHST14" "0000320659" "CHST14" "0000320660" "CHST14" "0000320661" "CHST14" "0000320662" "CHST14" "0000320663" "CHST14" "0000320664" "CHST14" "0000320665" "CHST14" "0000320666" "CHST14" "0000320667" "CHST14" "0000320668" "CHST14" "0000332578" "CHST14" "0000362829" "CHST14" "0000429460" "CHST14" ## 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 = 58 "{{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}}" "0000268124" "0" "30" "15" "40764219" "40764219" "subst" "0.0013647" "02329" "CHST14_000021" "g.40764219T>C" "" "" "" "CHST14(NM_130468.4):c.807T>C (p.D269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40472020T>C" "" "likely benign" "" "0000268125" "0" "30" "15" "40764353" "40764353" "subst" "1.62562E-5" "02329" "CHST14_000022" "g.40764353G>A" "" "" "" "CHST14(NM_130468.3):c.941G>A (p.(Arg314Gln)), CHST14(NM_130468.4):c.941G>A (p.R314Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40472154G>A" "" "likely benign" "" "0000554161" "0" "30" "15" "40764498" "40764498" "subst" "0" "02329" "BAHD1_000003" "g.40764498T>C" "" "" "" "CHST14(NM_130468.4):c.1086T>C (p.F362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40472299T>C" "" "likely benign" "" "0000615265" "0" "30" "15" "40763550" "40763550" "subst" "1.98965E-5" "01804" "BAHD1_000004" "g.40763550G>C" "" "" "" "CHST14(NM_130468.3):c.138G>C (p.(Met46Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40471351G>C" "" "likely benign" "" "0000649046" "1" "50" "15" "40763815" "40763815" "subst" "0" "03575" "CHST14_000023" "g.40763815C>G" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 4 heterozygous, no homozygous; {DB:CLININrs267606727}" "Germline" "" "rs267606727" "0" "" "" "g.40471616C>G" "" "VUS" "" "0000657558" "0" "50" "15" "40763957" "40763957" "subst" "0" "01804" "BAHD1_000005" "g.40763957T>G" "" "" "" "CHST14(NM_130468.3):c.545T>G (p.(Met182Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40471758T>G" "" "VUS" "" "0000666102" "3" "90" "15" "40764250" "40764250" "subst" "0" "01819" "CHST14_000027" "g.40764250A>T" "" "{PMID:Syx 2015:25703627}" "" "" "" "Germline" "" "" "0" "" "" "g.40472051A>T" "" "pathogenic (recessive)" "" "0000666103" "3" "99" "15" "40763802" "40763809" "dup" "0" "01819" "CHST14_000024" "g.40763802_40763809dup" "" "{PMID:Syx 2015:25703627}" "" "" "" "Germline" "" "" "0" "" "" "g.40471603_40471610dup" "" "pathogenic (recessive)" "" "0000666104" "3" "90" "15" "40763497" "40763507" "del" "0" "01819" "CHST14_000025" "g.40763497_40763507del" "" "{PMID:Syx 2015:25703627}" "" "" "" "Germline" "" "" "0" "" "" "g.40471298_40471308del" "" "pathogenic (recessive)" "" "0000666105" "3" "90" "15" "40764064" "40764064" "subst" "4.06385E-6" "01819" "CHST14_000026" "g.40764064C>A" "" "{PMID:Syx 2015:25703627}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40471865C>A" "" "pathogenic (recessive)" "" "0000666106" "3" "90" "15" "40764064" "40764064" "subst" "4.06385E-6" "01819" "CHST14_000026" "g.40764064C>A" "" "{PMID:Syx 2015:25703627}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40471865C>A" "" "pathogenic (recessive)" "" "0000691790" "0" "30" "15" "40764445" "40764445" "subst" "0.000110099" "01804" "BAHD1_000006" "g.40764445C>G" "" "" "" "CHST14(NM_130468.3):c.1033C>G (p.(Arg345Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000703368" "3" "99" "15" "40763460" "40763484" "del" "0" "00085" "CHST14_000017" "g.40763460_40763484del" "" "{PMID:Alazami 2016:27023906}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703369" "3" "99" "15" "40763557" "40763557" "del" "0" "00085" "CHST14_000005" "g.40763557del" "" "{PMID:Malfait et al., 2010:20842734}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703370" "3" "99" "15" "40763557" "40763557" "del" "0" "00085" "CHST14_000005" "g.40763557del" "" "{PMID:Dündar et al., 2009:20004762}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703371" "3" "99" "15" "40763557" "40763557" "del" "0" "00085" "CHST14_000005" "g.40763557del" "" "{PMID:Voermans et al., 2012:22407744}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703372" "21" "99" "15" "40763617" "40763617" "subst" "0" "00085" "CHST14_000001" "g.40763617A>T" "" "{PMID:Miyake et al., 2010:20533528}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703373" "1" "99" "15" "40763812" "40763812" "subst" "0" "00085" "CHST14_000008" "g.40763812C>G" "" "{PMID:Dündar et al., 2009:20004762}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703374" "2" "99" "15" "40763822" "40763822" "subst" "0" "00085" "CHST14_000009" "g.40763822T>A" "" "{PMID:Dündar et al., 2009:20004762}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703375" "3" "97" "15" "40763865" "40763865" "dup" "0" "00085" "CHST14_000018" "g.40763865dup" "" "{PMID:Janecke et al., 2016:26373698}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703376" "1" "99" "15" "40764038" "40764038" "subst" "2.03287E-5" "00085" "CHST14_000012" "g.40764038T>C" "" "{PMID:Shimizu et al., 2011:21744491}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703377" "21" "99" "15" "40764038" "40764038" "subst" "2.03287E-5" "00085" "CHST14_000012" "g.40764038T>C" "" "{PMID:Kono et al., 2016:26925854}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703378" "3" "99" "15" "40764050" "40764050" "subst" "2.84578E-5" "00085" "CHST14_000007" "g.40764050G>C" "" "{PMID:Dündar et al., 2009:20004762}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703379" "3" "97" "15" "40764050" "40764050" "subst" "2.84578E-5" "00085" "CHST14_000007" "g.40764050G>C" "" "{PMID:Janecke et al., 2016:26373698}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703380" "3" "99" "15" "40764088" "40764094" "delins" "0" "00085" "CHST14_000010" "g.40764088_40764094delinsGCTATGGGGCT" "" "{PMID:Winters et al., 2012:22987394}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703381" "3" "97" "15" "40764196" "40764196" "subst" "1.6248E-5" "00085" "CHST14_000020" "g.40764196G>A" "" "{PMID:Janecke et al., 2016:26373698}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703382" "3" "99" "15" "40764233" "40764233" "subst" "4.06167E-6" "00085" "CHST14_000011" "g.40764233G>C" "" "{PMID:Mendoza-Londono et al., 2012:22581468}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703383" "3" "99" "15" "40764254" "40764254" "subst" "0" "00085" "CHST14_000002" "g.40764254C>T" "" "{PMID:Miyake et al., 2010:20533528}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703384" "3" "99" "15" "40764254" "40764254" "subst" "0" "00085" "CHST14_000002" "g.40764254C>T" "" "{PMID:Miyake et al., 2010:20533528}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703385" "11" "99" "15" "40764254" "40764254" "subst" "0" "00085" "CHST14_000002" "g.40764254C>T" "" "{PMID:Miyake et al., 2010:20533528}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703386" "11" "99" "15" "40764254" "40764254" "subst" "0" "00085" "CHST14_000002" "g.40764254C>T" "" "{PMID:Miyake et al., 2010:20533528}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703387" "11" "99" "15" "40764254" "40764254" "subst" "0" "00085" "CHST14_000002" "g.40764254C>T" "" "{PMID:Miyake et al., 2010:20533528}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703388" "11" "99" "15" "40764254" "40764254" "subst" "0" "00085" "CHST14_000002" "g.40764254C>T" "" "{PMID:Miyake et al., 2010:20533528}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703389" "1" "99" "15" "40764254" "40764254" "subst" "0" "00085" "CHST14_000002" "g.40764254C>T" "" "{PMID:Shimizu et al., 2011:21744491}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703390" "2" "99" "15" "40764254" "40764254" "subst" "0" "00085" "CHST14_000002" "g.40764254C>T" "" "{PMID:Shimizu et al., 2011:21744491}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703391" "3" "99" "15" "40764254" "40764254" "subst" "0" "00085" "CHST14_000002" "g.40764254C>T" "" "{PMID:Mochida et al., 2016:26872206}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703392" "11" "97" "15" "40764254" "40764254" "subst" "0" "00085" "CHST14_000002" "g.40764254C>T" "" "{PMID:Kono et al., 2016:26925854}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703393" "21" "99" "15" "40764278" "40764278" "subst" "0" "00085" "CHST14_000003" "g.40764278G>C" "" "{PMID:Miyake et al., 2010:20533528}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703394" "21" "99" "15" "40764290" "40764290" "subst" "1.21835E-5" "00085" "CHST14_000004" "g.40764290A>G" "" "{PMID:Miyake et al., 2010:20533528}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703395" "21" "99" "15" "40764290" "40764290" "subst" "1.21835E-5" "00085" "CHST14_000004" "g.40764290A>G" "" "{PMID:Miyake et al., 2010:20533528}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703396" "3" "99" "15" "40764290" "40764290" "subst" "1.21835E-5" "00085" "CHST14_000004" "g.40764290A>G" "" "{PMID:Dündar et al., 2009:20004762}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703397" "2" "99" "15" "40764290" "40764290" "subst" "1.21835E-5" "00085" "CHST14_000004" "g.40764290A>G" "" "{PMID:Shimizu et al., 2011:21744491}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703398" "3" "97" "15" "40764389" "40764392" "dup" "0" "00085" "CHST14_000019" "g.40764389_40764392dup" "" "{PMID:Janecke et al., 2016:26373698}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703399" "3" "99" "15" "40764393" "40764412" "dup" "0" "00085" "CHST14_000006" "g.40764393_40764412dup" "" "{PMID:Malfait et al., 2010:20842734}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000729860" "3" "90" "15" "40763466" "40763490" "del" "0" "00000" "CHST14_000028" "g.40763466_40763490del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_130468.3:c.48_72del:p.(Gly19Trpfs*19)" "" "Germline" "" "" "0" "" "" "g.40471267_40471291del" "" "pathogenic (recessive)" "" "0000763203" "3" "90" "15" "40763466" "40763490" "del" "0" "00006" "CHST14_000028" "g.40763466_40763490del" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "" "" "0" "" "" "g.40471267_40471291del" "" "pathogenic" "ACMG" "0000806658" "0" "30" "15" "40764353" "40764353" "subst" "1.62562E-5" "01804" "CHST14_000022" "g.40764353G>A" "" "" "" "CHST14(NM_130468.3):c.941G>A (p.(Arg314Gln)), CHST14(NM_130468.4):c.941G>A (p.R314Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892018" "0" "50" "15" "40763507" "40763507" "subst" "0" "01804" "BAHD1_000007" "g.40763507C>T" "" "" "" "CHST14(NM_130468.3):c.95C>T (p.(Ala32Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908957" "3" "90" "15" "40764209" "40764209" "dup" "0" "04305" "CHST14_000029" "g.40764209dup" "" "{PMID:Sandal et al., 2018:30249733}" "" "" "" "Germline" "" "" "0" "" "" "g.41056407dup" "" "pathogenic" "ACMG" "0000914284" "0" "30" "15" "40763523" "40763523" "subst" "1.51934E-5" "02329" "BAHD1_000008" "g.40763523G>C" "" "" "" "CHST14(NM_130468.4):c.111G>C (p.P37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925961" "0" "30" "15" "40763700" "40763700" "subst" "0.00051093" "02329" "BAHD1_000010" "g.40763700G>A" "" "" "" "CHST14(NM_130468.4):c.288G>A (p.R96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950339" "0" "30" "15" "40763979" "40763979" "subst" "0.000236274" "02329" "BAHD1_000011" "g.40763979G>A" "" "" "" "CHST14(NM_130468.4):c.567G>A (p.V189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981194" "0" "50" "15" "40764100" "40764100" "subst" "4.06207E-6" "01804" "BAHD1_000012" "g.40764100A>G" "" "" "" "CHST14(NM_130468.4):c.688A>G (p.(Ile230Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981195" "0" "50" "15" "40764397" "40764397" "subst" "3.25283E-5" "01804" "BAHD1_000013" "g.40764397C>T" "" "" "" "CHST14(NM_130468.4):c.985C>T (p.(Arg329Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001352" "0" "30" "15" "40764398" "40764398" "subst" "0" "01804" "BAHD1_000014" "g.40764398G>T" "" "" "" "CHST14(NM_130468.3):c.986G>T (p.(Arg329Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001016704" "3" "77" "15" "40764041" "40764041" "subst" "4.0655E-6" "04693" "CHST14_000030" "g.40764041T>C" "" "{PMID:Ks 2024:38881098}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40471842T>C" "{CV:2092310}" "likely pathogenic (recessive)" "" "0001016781" "3" "70" "15" "40764041" "40764041" "subst" "4.0655E-6" "04693" "CHST14_000030" "g.40764041T>C" "" "{PMID:Ks 2024:38881098}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40471842T>C" "{CV:2092310}" "likely pathogenic (recessive)" "" "0001040318" "0" "50" "15" "40763810" "40763810" "subst" "4.11161E-6" "01804" "BAHD1_000015" "g.40763810A>C" "" "" "" "CHST14(NM_130468.4):c.398A>C (p.(Gln133Pro))" "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 CHST14 ## Count = 58 "{{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}}" "{{VariantOnTranscript/Variant/Type}}" "{{VariantOnTranscript/Consequence/Predicted}}" "0000268124" "00005169" "30" "807" "0" "807" "0" "c.807T>C" "r.(?)" "p.(Asp269=)" "" "" "" "0000268125" "00005169" "30" "941" "0" "941" "0" "c.941G>A" "r.(?)" "p.(Arg314Gln)" "" "" "" "0000554161" "00005169" "30" "1086" "0" "1086" "0" "c.1086T>C" "r.(?)" "p.(Phe362=)" "" "" "" "0000615265" "00005169" "30" "138" "0" "138" "0" "c.138G>C" "r.(?)" "p.(Met46Ile)" "" "" "" "0000649046" "00005169" "50" "403" "0" "403" "0" "c.403C>G" "r.(?)" "p.(Arg135Gly)" "" "" "" "0000657558" "00005169" "50" "545" "0" "545" "0" "c.545T>G" "r.(?)" "p.(Met182Arg)" "" "" "" "0000666102" "00005169" "90" "838" "0" "838" "0" "c.838A>T" "r.(?)" "p.(Met280Leu)" "01" "substitution" "missense" "0000666103" "00005169" "99" "390" "0" "397" "0" "c.390_397dup" "r.(?)" "p.(Gln133Argfs*14)" "01" "duplication" "frameshift" "0000666104" "00005169" "90" "85" "0" "95" "0" "c.85_95del" "r.(?)" "p.(Arg29Glyfs*113)" "01" "deletion" "frameshift" "0000666105" "00005169" "90" "652" "0" "652" "0" "c.652C>A" "r.(?)" "p.(Arg218Ser)" "01" "substitution" "missense" "0000666106" "00005169" "90" "652" "0" "652" "0" "c.652C>A" "r.(?)" "p.(Arg218Ser)" "01" "substitution" "missense" "0000691790" "00005169" "30" "1033" "0" "1033" "0" "c.1033C>G" "r.(?)" "p.(Arg345Gly)" "" "" "" "0000703368" "00005169" "99" "48" "0" "72" "0" "c.48_72del" "r.(?)" "p.(Gly19Trpfs*19)" "1" "deletion" "frameshift" "0000703369" "00005169" "99" "145" "0" "145" "0" "c.145del" "r.(?)" "p.(Val49*)" "1" "substitution" "nonsense" "0000703370" "00005169" "99" "145" "0" "145" "0" "c.145del" "r.(?)" "p.(Val49*)" "1" "substitution" "nonsense" "0000703371" "00005169" "99" "145" "0" "145" "0" "c.145del" "r.(?)" "p.(Val49*)" "1" "substitution" "nonsense" "0000703372" "00005169" "99" "205" "0" "205" "0" "c.205A>T" "r.(?)" "p.(Lys69*)" "1" "substitution" "nonsense" "0000703373" "00005169" "99" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "1" "substitution" "missense" "0000703374" "00005169" "99" "410" "0" "410" "0" "c.410T>A" "r.(?)" "p.(Leu137Gln)" "1" "substitution" "missense" "0000703375" "00005169" "97" "453" "0" "453" "0" "c.453dup" "r.(?)" "p.(Cys152Leufs*10)" "1" "duplication" "frameshift" "0000703376" "00005169" "99" "626" "0" "626" "0" "c.626T>C" "r.(?)" "p.(Phe209Ser)" "1" "substitution" "missense" "0000703377" "00005169" "99" "626" "0" "626" "0" "c.626T>C" "r.(?)" "p.(Phe209Ser)" "1" "substitution" "missense" "0000703378" "00005169" "99" "638" "0" "638" "0" "c.638G>C" "r.(?)" "p.(Arg213Pro)" "1" "substitution" "missense" "0000703379" "00005169" "97" "638" "0" "638" "0" "c.638G>C" "r.(?)" "p.(Arg213Pro)" "1" "substitution" "missense" "0000703380" "00005169" "99" "676" "0" "682" "0" "c.676_682delinsGCTATGGGGCT" "r.(?)" "p.(Lys226Alafs*16)" "1" "delins" "frameshift" "0000703381" "00005169" "97" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Glu262Lys)" "1" "substitution" "missense" "0000703382" "00005169" "99" "821" "0" "821" "0" "c.821G>C" "r.(?)" "p.(Arg274Pro)" "1" "substitution" "missense" "0000703383" "00005169" "99" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "1" "substitution" "missense" "0000703384" "00005169" "99" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "1" "substitution" "missense" "0000703385" "00005169" "99" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "1" "substitution" "missense" "0000703386" "00005169" "99" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "1" "substitution" "missense" "0000703387" "00005169" "99" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "1" "substitution" "missense" "0000703388" "00005169" "99" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "1" "substitution" "missense" "0000703389" "00005169" "99" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "1" "substitution" "missense" "0000703390" "00005169" "99" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "1" "substitution" "missense" "0000703391" "00005169" "99" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "1" "substitution" "missense" "0000703392" "00005169" "97" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "1" "substitution" "missense" "0000703393" "00005169" "99" "866" "0" "866" "0" "c.866G>C" "r.(?)" "p.(Cys289Ser)" "1" "substitution" "missense" "0000703394" "00005169" "99" "878" "0" "878" "0" "c.878A>G" "r.(?)" "p.(Tyr293Cys)" "1" "substitution" "missense" "0000703395" "00005169" "99" "878" "0" "878" "0" "c.878A>G" "r.(?)" "p.(Tyr293Cys)" "1" "substitution" "missense" "0000703396" "00005169" "99" "878" "0" "878" "0" "c.878A>G" "r.(?)" "p.(Tyr293Cys)" "1" "substitution" "missense" "0000703397" "00005169" "99" "878" "0" "878" "0" "c.878A>G" "r.(?)" "p.(Tyr293Cys)" "1" "substitution" "missense" "0000703398" "00005169" "97" "977" "0" "980" "0" "c.977_980dup" "r.?" "p.(Trp327Cysfs*29)" "1" "duplication" "frameshift" "0000703399" "00005169" "99" "981" "0" "1000" "0" "c.981_1000dup" "r.?" "p.(Glu334Glyfs*107)" "1" "duplication" "frameshift" "0000729860" "00005169" "90" "54" "0" "78" "0" "c.54_78del" "r.(?)" "p.(Gly19Trpfs*19)" "" "" "" "0000763203" "00005169" "90" "54" "0" "78" "0" "c.54_78del" "r.(?)" "p.(Gly19Trpfs*19)" "" "" "" "0000806658" "00005169" "30" "941" "0" "941" "0" "c.941G>A" "r.(?)" "p.(Arg314Gln)" "" "" "" "0000892018" "00005169" "50" "95" "0" "95" "0" "c.95C>T" "r.(?)" "p.(Ala32Val)" "" "" "" "0000908957" "00005169" "90" "797" "0" "797" "0" "c.797dup" "r.(?)" "p.(Tyr266*)" "1" "duplication" "nonsense" "0000914284" "00005169" "30" "111" "0" "111" "0" "c.111G>C" "r.(?)" "p.(Pro37=)" "" "" "" "0000925961" "00005169" "30" "288" "0" "288" "0" "c.288G>A" "r.(?)" "p.(Arg96=)" "" "" "" "0000950339" "00005169" "30" "567" "0" "567" "0" "c.567G>A" "r.(?)" "p.(=)" "" "" "" "0000981194" "00005169" "50" "688" "0" "688" "0" "c.688A>G" "r.(?)" "p.(Ile230Val)" "" "" "" "0000981195" "00005169" "50" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Arg329Trp)" "" "" "" "0001001352" "00005169" "30" "986" "0" "986" "0" "c.986G>T" "r.(?)" "p.(Arg329Leu)" "" "" "" "0001016704" "00005169" "77" "629" "0" "629" "0" "c.629T>C" "r.(?)" "p.(Leu210Pro)" "1" "substitution" "missense" "0001016781" "00005169" "70" "629" "0" "629" "0" "c.629T>C" "r.(?)" "p.(Leu210Pro)" "1" "substitution" "missense" "0001040318" "00005169" "50" "398" "0" "398" "0" "c.398A>C" "r.(?)" "p.(Gln133Pro)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 43 "{{screeningid}}" "{{variantid}}" "0000292357" "0000649046" "0000302751" "0000666102" "0000302752" "0000666103" "0000302753" "0000666104" "0000302754" "0000666105" "0000302755" "0000666106" "0000320645" "0000703368" "0000320646" "0000703369" "0000320647" "0000703370" "0000320648" "0000703371" "0000320649" "0000703372" "0000320649" "0000703387" "0000320650" "0000703373" "0000320650" "0000703374" "0000320651" "0000703375" "0000320652" "0000703376" "0000320652" "0000703390" "0000320653" "0000703377" "0000320653" "0000703392" "0000320654" "0000703378" "0000320655" "0000703379" "0000320656" "0000703380" "0000320657" "0000703381" "0000320658" "0000703382" "0000320659" "0000703383" "0000320660" "0000703384" "0000320661" "0000703385" "0000320661" "0000703394" "0000320662" "0000703386" "0000320662" "0000703395" "0000320663" "0000703388" "0000320663" "0000703393" "0000320664" "0000703389" "0000320664" "0000703397" "0000320665" "0000703391" "0000320666" "0000703396" "0000320667" "0000703398" "0000320668" "0000703399" "0000332578" "0000729860" "0000362829" "0000763203" "0000429460" "0000908957" "0000459007" "0001016704" "0000459063" "0001016781"