### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PKDCC) # 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}}" "PKDCC" "protein kinase domain containing, cytoplasmic" "2" "p21" "unknown" "NC_000002.11" "UD_132439500714" "" "https://www.LOVD.nl/PKDCC" "" "1" "25123" "91461" "614150" "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/PKDCC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-07-31 10:26:48" "00006" "2024-01-23 18:13:56" ## 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}}" "00016239" "PKDCC" "protein kinase domain containing, cytoplasmic homolog (mouse)" "001" "NM_138370.2" "" "NP_612379.2" "" "" "" "-179" "2322" "1482" "42275161" "42285668" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "06495" "RLSDF" "Rhizomelic limb shortening with dysmorphic features" "AR" "618821" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PKDCC" "06495" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00435461" "" "" "" "1" "" "04535" "" "" "F" "" "" "" "0" "" "" "" "patient" "00435463" "" "" "" "1" "" "00006" "{PMID:Sajan 2019:30478137}" "-generation family, 1 affected, unaffected heterozygous parents" "" "" "United States" "" "0" "" "" "" "Pat1" "00435464" "" "" "" "1" "" "00006" "{PMID:Sajan 2019:30478137}" "2-generation family, 1 affected, unaffected heterozygous parents" "?" "" "United States" "" "0" "" "" "" "Pat2" "00435466" "" "" "" "1" "" "00006" "{PMID:Pagnamenta 2023:36896672}" "2-generation family, 1 affected, unaffected heterozygous carrier parents (2nd cousins)" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Middle East" "Fam1PatII1" "00435467" "" "" "" "2" "" "00006" "{PMID:Pagnamenta 2023:36896672}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "India" "Fam2PatII1" "00435468" "" "" "" "2" "" "00006" "{PMID:Pagnamenta 2023:36896672}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "Hispanic" "Fam3PatII1" "00435469" "" "" "00435468" "1" "" "00006" "{PMID:Pagnamenta 2023:36896672}" "sister" "F" "" "" "" "0" "" "" "Hispanic" "Fam3PatII2" "00435470" "" "" "" "1" "" "00006" "{PMID:Pagnamenta 2023:36896672}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "Hispanic" "Fam4PatII2" "00435471" "" "" "" "1" "" "00006" "{PMID:Pagnamenta 2023:36896672}" "3-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins)" "M" "yes" "Iran" "" "0" "" "" "" "Fam5PatII10" "00435472" "" "" "" "1" "" "00006" "{PMID:Pagnamenta 2023:36896672}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "Hispanic" "Fam6PatII2" "00435473" "" "" "" "3" "" "00006" "{PMID:Pagnamenta 2023:36896672}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents (1st cousins)" "F" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "Fam7PatII5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00435461" "06495" "00435463" "06495" "00435464" "06495" "00435466" "05517" "00435467" "05517" "00435468" "05517" "00435469" "05517" "00435470" "05517" "00435471" "05517" "00435472" "05517" "00435473" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05517, 06495 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000325652" "06495" "00435461" "04535" "Familial, autosomal recessive" "" "rhizomelia of the upper limbs, flat face, prominent forehead, and nasal planus" "" "" "" "" "" "" "" "RLSDF" "" "0000325653" "06495" "00435463" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth weight 3.18kg (32nd), length 50.8cm (69th); weight 73.6kg (92nd), height 156.7 cm (17th), OFC 55.4 cm (84th), body mass index 30 kg/m2 (96th); Rhizomelic shortening and milder mesomelic shortening upper and lower extremities, short thumbs, bilateral short 5th fingers, hyperextensible fingers, bilateral middle finger clinodactyly, limited range of motion shoulder joints, chronic joint pain, juvenile idiopathic arthritis, bilateral patellofemoral joint dislocation; prominent forehead, downslanting palpebral fissures, broad nasal bridge, long philtrum; obesity, left-sided headaches, acanthosis nigricans, chronic stage 1 kidney disease, café au lait macule on upper right arm, depressed mood, occasional abdominal pain, dizziness, nausea, left-sided small branchial cleft defect covered with skin without an obvious fistula; no cardiac anomalirs" "" "<00y06m" "" "" "" "" "" "RLSDF" "rhizomelic shortening of limbs, dysmorphic features" "0000325654" "06495" "00435464" "00006" "Familial, autosomal recessive" "" "see paper; ..., 2y-weight 10.3 kg (8th), height 77.3 cm (5th), OFC 52.5 cm (>98th), BMI 30 kg/m2 (96th); Rhizomelic short stature most evident in upper extremity, prominent fingertip pads and simian crease left, flattening of dorsal aspect skull indicative of plagiocephaly but otherwise grossly normal; macrocephaly, short neck, micrognathia, mild proptosis, depressed nasal bridge, long smooth philtrum; difficulty gaining weight, receives physical and speech therapies, central hypotonia, bilateral mild conductive hearing loss, laryngomalacia, poplyploid anal mass which had decreased in size, brisk deep tendon reflexesMRI brain <1y-mildly delayed myelination, benign enlargement of subarachnoid spaces of infancy without aqueductal stenosis, craniocervical junction anomalies cervical region of the spine; heart murmur, mildly increased velocity in the suprapulmonic region with no pulmonary valve stenosis, a small patent foramen ovale with left to right shunting, and mild tricuspid regurgitation" "" "<00y06m" "" "" "" "" "" "RLSDF" "rhizomelic shortening of limbs, dysmorphic features" "0000325655" "05517" "00435466" "00006" "Familial, autosomal recessive" "" "birth weight 2.3 kg; length 2-9th (but mid-parental height on 50th); Rhizomelic (proximal) upper limb shortening, lower limbs proportionate; normal developmental milestones; slightly broad halluces; prominent eyes, high/broad nasal bridge, mild hypertelorism, thick eyebrows, long lashes, subtly coarse facial appearance, wide neck, minor neck webbing, low posterior hairline; sloping shoulders; mild micrognathia; short humeri noted in skeletal survey, mild bilateral coxa valga deformity; no hearing loss; myopia (-2D), previous surgery for blocked lachrymal ducts" "" "" "" "" "" "" "" "RLSDF" "Rhizomelia and facial dysmorphism (Robinow and Frank-Ter Haar syndromes considered)" "0000325656" "05517" "00435467" "00006" "Familial, autosomal recessive" "7y2m" "birth weight 3326 g; length 116.5 cm (9th), on growth hormone therapy (prior to GH treatment height centile was 3.5mm below 0.4th centile), OFC 53.3 cm (50th centile); Rhizomelia upper limbs; no hypotonia; delayed walking secondary to increased tone; no kyphosis/hyperlordosis; bilateral fifth finger clinodactyly, left single palmar crease; normal feet; mild hypertelorism, epicanthic folds, long eyelashes, thin upper lip, smooth philtrum, pale capillary haemangioma on forehead; mild micrognathia, prominent metopic ridge; no platyspondyly; no metaphyseal changes; short humeri, lateral displacement of right patella; no laryngomalacia; no branchial cleft defect; no hearing loss; no cardiovascular anomalies; porencephalic cyst and associated increased tone, all four limbs, L>R; increased range of movement right elbow, left elbow is stiff, possibly dislocated, needs further assessment. undescended testes, mild neutropenia, hypoplastic pituitary gland on imaging and growth hormone deficiency; low TSH, teeth enamel pitting" "" "" "" "" "" "" "" "RLSDF" "dominant omodysplasia" "0000325657" "05517" "00435468" "00006" "Familial, autosomal recessive" "3y" "length 87 cm (0.39th, Z -2.66), OFC 47.5 cm (8.09th, Z 1.40); Rhizomelic (proximal) upper limb shortening, lower limbs proportionate; no hypotonia; speech delay; no kyphosis/hyperlordosis; short fifth digit; short broad toes; no sloping shoulders; no platyspondyly; no metaphyseal changes; short humeri; sensorineural hearing loss; no cardiovascular anomalies; widely spaced nipples" "" "" "" "" "" "" "" "RLSDF" "Rhizomelia and bilateral clinodactyly" "0000325658" "05517" "00435469" "00006" "Familial, autosomal recessive" "16m" "birth weight 2990 g; length 70 cm (0.11th, Z -3.07), OFC 46 cm (54th, Z 0.10); Rhizomelic (proximal) upper limb shortening, lower limbs proportionate; no hypotonia; normal developmental milestones; no kyphosis/hyperlordosis; short fifth digit; short broad toes; thick, arched, eyebrows, a thin upper lip, long philtrum; no sloping shoulders; no platyspondyly; no metaphyseal changes; short humeri; sensorineural hearing loss; no cardiovascular anomalies; hemagioma right breast" "" "" "" "" "" "" "" "RLSDF" "Rhizomelia and bilateral clinodactyly" "0000325659" "05517" "00435470" "00006" "Familial, autosomal recessive" "6y" "length 42nd centile, OFC 32nd centile; Rhizomelic shortening of arms; proximally placed thumbs; normal feet; long facies with midface hypoplasia, high and towering forehead, hypertelomoric eyes with epicanthus, thin upper lip, long philtrum, scooped nosal bridge with broad root, flat tip and flared nostrils; no sloping shoulders; normal head shape, fontaneles closed, micrognathic chin; coarse hair, hyperextensible joints, narrow palate" "" "" "" "" "" "" "" "RLSDF" "" "0000325660" "05517" "00435471" "00006" "Familial, autosomal recessive" "43y" "BMI 28.8 kg/m2; length 157 cm (below 5th centile), OFC 57 cm (>75th centile); Upper and lower limb rhizomelia; no hypotonia; delayed developmental milestones; no kyphosis/hyperlordosis; short thumbs, bilateral short fifth finger; sandal gap; prominent forehead, downslanting palpebral fissures and hypertelorism; sloping shoulders; macrocephaly; genu varum, patellofemoral joint dislocation, incomplete supination, chronic joint pain; laryngomalacia; branchial cleft defect; hearing impairment; no cardiovascular anomalies" "" "" "" "" "" "" "" "RLSDF" "" "0000325661" "05517" "00435472" "00006" "Familial, autosomal recessive" "7y6m" "birth weight 2970 g (19th), length 48 cm (16th); BMI 17.1 kg/m2; length 112.6 cm (1st centile, Z -2.27), OFC 54 cm (91st centile, Z 1.36); Rhizomelic shortening and milder mesomelic shortening of the upper and lower extremities; no hypotonia; normal developmental milestones; no kyphosis/hyperlordosis; bilateral clinodactyly and shortening of fifth fingers, short thumbs, prominent pads, hyperextensible fingers; slightly broad halluxes, vertical deep plantar crease; high and prominent forehead, nevus flammeus on forehead, thick eyebrows, long lashes, mild hypertelorism, short nose, broad/ and low nasal bridge, anteverted nares, low set ears, prominent antihelix, wide neck, flat face; sloping shoulders; macrocephaly, dolicocephaly; no platyspondyly; slightly widened metaphyses; short humeri, short clavicles, flat acetabulum, bilateral coxa valga deformity, prominent medial femoral condyles, bilateral shortening distal phalange 1st and 2nd fingers and medial phalange of 5th finger; no laryngomalacia; no branchial cleft defect; no hearing loss; no cardiovascular anomalies; myopia (+4.8D), pectus excavatum, periungual hyperpigmentation, tooth decay, enamel pitting" "1y" "" "" "" "" "" "" "RLSDF" "Rhizomelia and facial dysmorphism (Robinow syndrome considered)" "0000325662" "05517" "00435473" "00006" "Familial, autosomal recessive" "3y2m" "birth weight 2.3 kg, length 47 cm , OFC 32cm; length 88 cm (5.5 percentile, Z-1.5), OFC 45.6 cm (21 percentile, Z -0.78); Rhizomelic (proximal) upper limb shortening, lower limbs proportionate; no hypotonia; normal developmental milestones; no kyphosis/hyperlordosis; bilateral fifth finger clinodactyly, b/l single thumb crease; slightly broad halluces; prominent eyes, depressed nasal bridge, mild hypertelorism, flat occipit, B/L cupped ears, rotated, fleshy ear lobes. epicanthal folds, short upturned nose, long philtrum, mid face hypoplasia, elfin-like face; no sloping shoulders; mild micrognathia; no platyspondyly; short humeri noted in skeletal survey, mild bilateral coxa valga deformity, 11 ribs (B/L); no laryngomalacia; no branchial cleft defect; no hearing loss; atrial septal defect; inferior cerebellar vermal hypoplasia" "1d" "" "" "" "" "" "" "RLSDF" "Rhizomelia and facial dysmorphism (Robinow and Frank-Ter Haar syndromes considered)" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000436940" "00435461" "1" "04535" "04535" "2023-07-31 09:43:06" "" "" "SEQ-NG" "DNA" "" "WES" "0000436941" "00435463" "1" "00006" "00006" "2023-07-31 11:07:23" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000436943" "00435464" "1" "00006" "00006" "2023-07-31 11:19:02" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000436945" "00435466" "1" "00006" "00006" "2023-07-31 14:44:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436946" "00435467" "1" "00006" "00006" "2023-07-31 14:44:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436947" "00435468" "1" "00006" "00006" "2023-07-31 14:44:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436948" "00435469" "1" "00006" "00006" "2023-07-31 14:44:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436949" "00435470" "1" "00006" "00006" "2023-07-31 14:44:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436950" "00435471" "1" "00006" "00006" "2023-07-31 14:44:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436951" "00435472" "1" "00006" "00006" "2023-07-31 14:44:28" "" "" "SEQ;SEQ-NG" "DNA" "" "438-gene panel" "0000436952" "00435473" "1" "00006" "00006" "2023-07-31 14:44:28" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000436940" "PKDCC" ## 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 = 20 "{{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}}" "0000829418" "0" "50" "2" "27600408" "62081181" "dup" "0" "00000" "FSHR_000025" "g.27600408_62081181dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:27600408–62081181" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000849880" "0" "50" "2" "42282449" "42282449" "subst" "5.73413E-5" "02327" "PKDCC_000002" "g.42282449G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849881" "0" "50" "2" "42282538" "42282538" "subst" "0.000368793" "02327" "PKDCC_000003" "g.42282538G>A" "" "" "" "PKDCC(NM_138370.3):c.1222+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931628" "21" "90" "2" "42275689" "42275689" "del" "0" "04535" "PKDCC_000004" "g.42275689del" "" "" "" "346del" "" "Germline" "" "" "0" "" "" "g.42048549del" "" "pathogenic (recessive)" "ACMG" "0000931629" "11" "90" "2" "42281407" "42281407" "subst" "0" "04535" "PKDCC_000005" "g.42281407G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42054267G>T" "" "pathogenic (recessive)" "ACMG" "0000931630" "3" "90" "2" "42280390" "42280390" "subst" "0" "00006" "PKDCC_000006" "g.42280390C>A" "" "{PMID:Sajan 2019:30478137}" "" "" "" "Germline" "" "rs761532715" "0" "" "" "g.42053250C>A" "" "pathogenic (recessive)" "" "0000931631" "3" "90" "2" "42275979" "42275979" "subst" "3.86076E-5" "00006" "PKDCC_000007" "g.42275979G>T" "" "{PMID:Sajan 2019:30478137}" "" "" "" "Germline" "" "rs763243200" "0" "" "" "g.42048839G>T" "" "pathogenic (recessive)" "" "0000931650" "3" "70" "2" "42281352" "42281352" "dup" "0" "00006" "PKDCC_000014" "g.42281352dup" "" "{PMID:Pagnamenta 2023:36896672}" "" "" "" "Germline" "" "" "0" "" "" "g.42054212dup" "" "likely pathogenic (recessive)" "" "0000931651" "3" "70" "2" "42275567" "42275567" "dup" "0" "00006" "PKDCC_000008" "g.42275567dup" "" "{PMID:Pagnamenta 2023:36896672}" "" "" "" "Germline" "" "" "0" "" "" "g.42048427dup" "" "likely pathogenic (recessive)" "" "0000931652" "3" "70" "2" "42275945" "42275945" "dup" "0" "00006" "PKDCC_000012" "g.42275945dup" "" "{PMID:Pagnamenta 2023:36896672}" "" "" "" "Germline" "" "" "0" "" "" "g.42048805dup" "" "likely pathogenic (recessive)" "" "0000931653" "3" "70" "2" "42275945" "42275945" "dup" "0" "00006" "PKDCC_000012" "g.42275945dup" "" "{PMID:Pagnamenta 2023:36896672}" "" "" "" "Germline" "" "" "0" "" "" "g.42048805dup" "" "likely pathogenic (recessive)" "" "0000931654" "21" "70" "2" "42275629" "42275659" "del" "0" "00006" "PKDCC_000009" "g.42275629_42275659del" "" "{PMID:Pagnamenta 2023:36896672}" "" "" "" "Germline" "" "" "0" "" "" "g.42048489_42048519del" "" "likely pathogenic (recessive)" "" "0000931655" "3" "70" "2" "42281198" "42281198" "subst" "8.15129E-6" "00006" "PKDCC_000013" "g.42281198T>G" "" "{PMID:Pagnamenta 2023:36896672}" "" "" "" "Germline" "" "" "0" "" "" "g.42054058T>G" "" "likely pathogenic (recessive)" "" "0000931656" "11" "70" "2" "42275979" "42275979" "subst" "3.86076E-5" "00006" "PKDCC_000007" "g.42275979G>T" "" "{PMID:Pagnamenta 2023:36896672}" "" "" "" "Germline" "" "rs763243200" "0" "" "" "g.42048839G>T" "" "likely pathogenic (recessive)" "" "0000931657" "3" "70" "2" "42275719" "42275719" "dup" "0" "00006" "PKDCC_000010" "g.42275719dup" "" "{PMID:Pagnamenta 2023:36896672}" "" "" "" "Germline" "" "" "0" "" "" "g.42048579dup" "" "likely pathogenic (recessive)" "" "0000931658" "11" "70" "2" "42275831" "42275831" "del" "0" "00006" "PKDCC_000011" "g.42275831del" "" "{PMID:Pagnamenta 2023:36896672}" "" "" "" "Germline" "" "rs1158542233" "0" "" "" "g.42048691del" "" "likely pathogenic (recessive)" "" "0000931659" "21" "70" "2" "42281198" "42281198" "subst" "8.15129E-6" "00006" "PKDCC_000013" "g.42281198T>G" "" "{PMID:Pagnamenta 2023:36896672}" "" "" "" "Germline" "" "rs373676533" "0" "" "" "g.42054058T>G" "" "likely pathogenic (recessive)" "" "0000947848" "0" "30" "2" "42280448" "42280448" "subst" "0.00343683" "01804" "PKDCC_000015" "g.42280448G>A" "" "" "" "PKDCC(NM_138370.2):c.709G>A (p.(Ala237Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975268" "0" "30" "2" "42275399" "42275399" "subst" "0.000102805" "01804" "PKDCC_000016" "g.42275399C>G" "" "" "" "PKDCC(NM_138370.3):c.60C>G (p.(Ser20=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975269" "0" "30" "2" "42282538" "42282538" "subst" "0.000368793" "01804" "PKDCC_000003" "g.42282538G>A" "" "" "" "PKDCC(NM_138370.3):c.1222+5G>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 PKDCC ## Count = 20 "{{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}}" "0000829418" "00016239" "50" "-8388608" "0" "8388607" "0" "c.-14674932_*19796353dup" "r.0?" "p.0?" "" "0000849880" "00016239" "50" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Glu380Lys)" "" "0000849881" "00016239" "50" "1222" "5" "1222" "5" "c.1222+5G>A" "r.spl?" "p.?" "" "0000931628" "00016239" "90" "350" "0" "350" "0" "c.350del" "r.(?)" "p.(Pro117Argfs*113)" "1" "0000931629" "00016239" "90" "994" "0" "994" "0" "c.994G>T" "r.(?)" "p.(Glu332*)" "3" "0000931630" "00016239" "90" "651" "0" "651" "0" "c.651C>A" "r.(?)" "p.(Tyr217*)" "2" "0000931631" "00016239" "90" "639" "1" "639" "1" "c.639+1G>T" "r.spl" "p.?" "1i" "0000931650" "00016239" "70" "939" "0" "939" "0" "c.939dup" "r.(?)" "p.(Leu314ThrfsTer29)" "" "0000931651" "00016239" "70" "228" "0" "228" "0" "c.228dup" "r.(?)" "p.(Pro77AlafsTer95)" "" "0000931652" "00016239" "70" "606" "0" "606" "0" "c.606dup" "r.(?)" "p.(Leu203AlafsTer96)" "" "0000931653" "00016239" "70" "606" "0" "606" "0" "c.606dup" "r.(?)" "p.(Leu203AlafsTer96)" "" "0000931654" "00016239" "70" "290" "0" "320" "0" "c.290_320del" "r.(?)" "p.(Leu97ProfsTer123)" "" "0000931655" "00016239" "70" "785" "0" "785" "0" "c.785T>G" "r.(?)" "p.(Leu262Arg)" "" "0000931656" "00016239" "70" "639" "1" "639" "1" "c.639+1G>T" "r.spl" "p.?" "" "0000931657" "00016239" "70" "380" "0" "380" "0" "c.380dup" "r.(?)" "p.(Arg129AlafsTer43)" "" "0000931658" "00016239" "70" "492" "0" "492" "0" "c.492del" "r.(?)" "p.(Leu165SerfsTer65)" "" "0000931659" "00016239" "70" "785" "0" "785" "0" "c.785T>G" "r.(?)" "p.(Leu262Arg)" "" "0000947848" "00016239" "30" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Ala237Thr)" "" "0000975268" "00016239" "30" "60" "0" "60" "0" "c.60C>G" "r.(?)" "p.(=)" "" "0000975269" "00016239" "30" "1222" "5" "1222" "5" "c.1222+5G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000436940" "0000931628" "0000436940" "0000931629" "0000436941" "0000931630" "0000436943" "0000931631" "0000436945" "0000931650" "0000436946" "0000931651" "0000436947" "0000931652" "0000436948" "0000931653" "0000436949" "0000931654" "0000436949" "0000931658" "0000436950" "0000931655" "0000436951" "0000931656" "0000436951" "0000931659" "0000436952" "0000931657"