### LOVD-version 3000-21c ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KRT16) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "KRT16" "keratin 16" "17" "q21.2" "unknown" "NG_008301.1" "UD_132119129796" "" "http://www.LOVD.nl/KRT16" "" "1" "1" "6423" "3868" "148067" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/KRT16_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2015-12-01 05:09:30" "00006" "2015-12-01 05:11:39" ## 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}}" "00001488" "KRT16" "keratin 16" "001" "NM_005557.3" "" "NP_005548.2" "" "" "" "-139" "1579" "1422" "39766030" "39769079" "00000" "2012-09-13 13:35:50" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-24 17:14:32" "01485" "PC-1" "pachyonychia congenita, type 1" "167200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-07-05 08:24:40" "03226" "FNEPPK-1" "keratoderma, palmoplantar, nonepidermolytic, focal, type 1 (FNEPPK-1)" "613000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:59:30" "03514" "EPM-6" "epilepsy, myoclonic, progressive, type 6 (EPM-6)" "614018" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2018-02-20 21:24:37" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KRT16" "01485" "KRT16" "03226" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{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}}" "00000208" "" "" "" "1" "00037" "9" "00001" "2012-09-13 12:01:44" "00006" "2015-10-24 17:50:54" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00054881" "" "" "" "1" "00006" "9" "00006" "2015-12-01 04:31:33" "" "" "{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sib" "F" "yes" "Australia" "32y" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00054881" "03514" ## Phenotypes ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Pancreas/Insufficiency}}" "{{Phenotype/Scalp/Defects}}" "{{Phenotype/Anorectum/Anomalies}}" "{{Phenotype/Genitals/Malformations}}" "{{Phenotype/Hypothyroidism}}" "{{Phenotype/Length/Stature}}" "{{Phenotype/Malformations/Other}}" "{{Phenotype/Biochem_param}}" "{{Phenotype/enzyme_act}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Head/Microcephaly}}" "{{Phenotype/Heart/Defects}}" "{{Phenotype/Teeth/Oligodontia}}" "{{Phenotype/Brain/Corpus_Callosum/Agenesis}}" "{{Phenotype/Behavior/Abnormality}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Birth/OFC_at_birth_SDS}}" "{{Phenotype/Birth/Weight}}" "{{Phenotype/Brain_MRI}}" "{{Phenotype/Choanal_stenosis}}" "{{Phenotype/Bone/Age}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Development/Speech/Delayed}}" "{{Phenotype/Elbow/Dislocated}}" "{{Phenotype/Extremities/Brachydactyly}}" "{{Phenotype/Extremities/Epiphyses/Cone_shaped}}" "{{Phenotype/Extremities/Nails/Small}}" "{{Phenotype/Extremities/Phalanges/Distal/Absent_5th}}" "{{Phenotype/Extremities/Phalanges/Distal/Prominent}}" "{{Phenotype/Extremities/Phalanges/Hypoplasia}}" "{{Phenotype/Extremities/Joints/Interphalangeal/Prominent}}" "{{Phenotype/Facial/Ears/Abnormal}}" "{{Phenotype/Facial/Ears/Tags}}" "{{Phenotype/Facial/Mouth/Wide}}" "{{Phenotype/Facial/Nose/Bridge}}" "{{Phenotype/Facial/Nose/Anteverted}}" "{{Phenotype/Facial/Philtrum/Length}}" "{{Phenotype/Facial/Philtrum/Width}}" "{{Phenotype/Facial/Ptosis}}" "{{Phenotype/Facial/Eyebrows/Density}}" "{{Phenotype/Feeding/Problems}}" "{{Phenotype/Feeding/Problems/Duration}}" "{{Phenotype/Feeding/Problems/Start}}" "{{Phenotype/Infections/Recurrent}}" "{{Phenotype/Growth}}" "{{Phenotype/Growth/Height_SDS}}" "{{Phenotype/Hair/Scalp}}" "{{Phenotype/Hearing/Other}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Hypertrichosis}}" "{{Phenotype/Hypotonia/Muscular/Generalized}}" "{{Phenotype/Hernia/Inguinal}}" "{{Phenotype/Intestinal/GastroEsophoegal_Reflux}}" "{{Phenotype/Intestinal/Stenosis_Pyloric}}" "{{Phenotype/Joint/Laxity}}" "{{Phenotype/Malformations/Cardiac}}" "{{Phenotype/Mouth/Cleft_palate}}" "{{Phenotype/Intestine/Abnormality}}" "{{Phenotype/Kidney/Anomaly}}" "{{Phenotype/Facial/Lacrimal_Duct/Abnormality}}" "{{Phenotype/Pectus_excavatum}}" "{{Phenotype/Scoliosis}}" "{{Phenotype/Seizures}}" "{{Phenotype/Seizures/Age/Onset}}" "{{Phenotype/Seizures/Frequency}}" "{{Phenotype/Seizures/Type}}" "{{Phenotype/Skin/Cutis_marmorata}}" "{{Phenotype/Skin/Eczema}}" "{{Phenotype/Skin/Wrinkling}}" "{{Phenotype/Patella/Small}}" "{{Phenotype/Vision/Astigmatism}}" "{{Phenotype/Vision/Coloboma}}" "{{Phenotype/Vision/Other}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{Phenotype/Teeth/Anomalies}}" "{{Phenotype/Development/Speech}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Examined/Last}}" "{{Phenotype/Teeth}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Severity_score}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Diagnosis/Original}}" "{{Phenotype/Face/Shape}}" "{{Phenotype/Hemihypertrophy/HPO_0001528}}" "{{Phenotype/Intrauterine_growth_retardation/HPO/0001511}}" "{{Phenotype/Adrenal_hypoplasia/HPO_0000835}}" "{{Phenotype/Hypercalciuria/HPO_0002150}}" "{{Phenotype/Facial/Frontal_bossing/HPO_0002007}}" "{{Phenotype/Facial/Nose}}" "{{Phenotype/Arms_short/HPO_0009824}}" "{{Phenotype/Limbs_short/HPO_0006385}}" "{{Phenotype/Craniosynostosis/HPO_1363}}" "{{Phenotype/Osteopenia/HPO_0000938}}" "{{Phenotype/Epiphyses_smal/HPO_0010585}}" "{{Phenotype/Metaphyses_irregular/HPO_0003025}}" "{{Phenotype/Macrosomia/HPO_0001520}}" "{{Phenotype/Macroglossia/HPO_0000158}}" "{{Phenotype/Abdominal_wall_defect/HPO_0010866}}" "{{Phenotype/Hypoglycemia/HPO_0001943}}" "{{Phenotype/Tumor}}" "{{Phenotype/Karyotype}}" "{{Phenotype/Organomegaly}}" "{{Phenotype/Heart/Abnormality}}" "{{Phenotype/Eyelid/Naevus_flammeus/HPO_0010733}}" "{{Phenotype/Fever_episodic/HPO_0001954}}" "{{Phenotype/Dehydration/HPO_0001944}}" "{{Phenotype/Cyanosis/HPO_0000961}}" "{{Phenotype/Swallowing_poor/HPO_0002015}}" "{{Phenotype/Camptodactyly/HPO_0012385}}" "{{Phenotype/Cheeks_full/HPO_0000293}}" "{{Phenotype/Foot_abnormality/HPO_0001760}}" "{{Phenotype/Palate_high/HPO_0000218}}" "{{Phenotype/Sweating/Cold_induced}}" "{{Phenotype/Contractures/Joints_large/HPO_0005781}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Neuropathy_peripheral/HPO_0009830}}" "{{Phenotype/Tumor/IHC}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Family/Criteria}}" "{{Phenotype/Family/History}}" "{{Phenotype/BleedingScore}}" "{{Phenotype/BleedingScore/Tool}}" "{{Phenotype/Sub_type}}" "{{Phenotype/Iron/Hepatic_elevated/HPO_0012465}}" "{{Phenotype/Hand/Small/HPO_0200055}}" "{{Phenotype/Hypermobility}}" "{{Phenotype/Obesity/HPO_0001513}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Puberty}}" "{{Phenotype/AmnioticFluid/Abnormality/HPO_0001560}}" "{{Phenotype/Placentomegaly}}" "{{Phenotype/Prenatal}}" "{{Phenotype/Birth/Length}}" "{{Phenotype/Hirsutism/Forehead/HPO_0011335}}" "{{Phenotype/Blepharophimosis/HPO_0000581}}" "{{Phenotype/Facial/Lips}}" "{{Phenotype/Facial/Micrognathia/HPO_0000347}}" "{{Phenotype/Neck/Webbed/HPO_0000465}}" "{{Phenotype/Laryngomalacia/HPO_0001601}}" "{{Phenotype/Thorax/Bell_shaped/HPO_0001591}}" "{{Phenotype/Ribs/Coat_hanger/HPO_0006665}}" "{{Phenotype/Diastasis_recti/HPO_0001540}}" "{{Phenotype/Hip/Coxa_valga/HPO_0002673}}" "{{Phenotype/Orbits/Shallow/HPO_0000586}}" "{{Phenotype/Ossification/Ectopic/HPO_0011986}}" "{{Phenotype/Hair/Alopecia}}" "{{Phenotype/Eye/Chorioretinopathy/HPO_0001145}}" "{{Phenotype/Eye/Eyelashes}}" "{{Phenotype/Kidney/Disease}}" "{{Phenotype/Cysts}}" "{{Phenotype/Aneurysm}}" "{{Phenotype/Hypertension/HPO_0000822}}" "{{Phenotype/Hematuria/HPO_0000790}}" "{{Phenotype/Nephrolithiasis/HPO_0000787}}" "{{Phenotype/Disease/Status}}" "{{Phenotype/Kidney/Size}}" "{{Phenotype/Dilatation}}" "{{Phenotype/Sleep}}" "{{Phenotype/Eye/Pupil}}" "{{Phenotype/Umbilicus}}" "{{Phenotype/Eye}}" "{{Phenotype/Creatinine/Level}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Protein/F8_Ag}}" "{{Phenotype/Protein/F8_C/Stage1}}" "{{Phenotype/Protein/F8_C/Stage2}}" "{{Phenotype/Protein/FAssay_ratio}}" "{{Phenotype/Immunology/Auto_antibodies}}" "{{Phenotype/Severity}}" "{{Phenotype/Abnormality}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Inclusion}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/Lens/Cataract}}" "{{Phenotype/Head/Fontanel}}" "{{Phenotype/Eye/Ball}}" "{{Phenotype/Fistula}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/BCells}}" "{{Phenotype/BCells_surf_Ig}}" "{{Phenotype/CD19}}" "{{Phenotype/CD20}}" "{{Phenotype/Immunoglobulin/IgA}}" "{{Phenotype/Immunoglobulin/IgE}}" "{{Phenotype/Immunoglobulin/IgG}}" "{{Phenotype/Immunoglobulin/IgG/IgG1}}" "{{Phenotype/Immunoglobulin/IgG/IgG2}}" "{{Phenotype/Immunoglobulin/IgG/IgG3}}" "{{Phenotype/Immunoglobulin/IgG/IgG4}}" "{{Phenotype/Immunoglobulin/IgM}}" "{{Phenotype/Enzyme/Kinase}}" "{{Phenotype/CD3}}" "{{Phenotype/CD4}}" "{{Phenotype/CD8}}" "{{Phenotype/Calcification}}" "{{Phenotype/Ion_Homeostasis}}" "{{Phenotype/Hormones}}" "{{Phenotype/Vitamin}}" "{{Phenotype/Protein/Multimer_profile}}" "{{Phenotype/DTI_Tractography}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Growth/Retardation/Postnatal/HPO_0008897}}" "{{Phenotype/Asymmetry/Body}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Reproduction/Abnormal/Physiology}}" "{{Phenotype/Testis/Abnormal}}" "{{Phenotype/Eye/Movement}}" "{{Phenotype/Skin}}" "{{Phenotype/Finger_Toe/Abnormal}}" "{{Phenotype/Urine}}" "{{Phenotype/Hair/Pigmentation}}" "{{Phenotype/Histology}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "9" "00006" "2015-10-24 17:16:34" "00006" "2015-10-24 17:58:50" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "3w" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041542" "03514" "00054881" "00006" "9" "00006" "2015-12-01 04:31:33" "" "" "Isolated (sporadic)" "" "7y tremor; 7-8y absences; 8y obvious myoclonus; 13y drop attacks; 13y convulsive seizures; 2y areflexia; 14y wheelchair; 22y bedfast; normal cognition until 25y, mmemory difficulties later; scoliosis, pes cavus; EEG generalized spike-wave, posterior emphasis photosensitive; CK 570–800 (normal <170)" "" "" "" "" "" "" "" "" "" "2y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000054833" "00054881" "1" "00006" "00006" "2015-12-01 04:31:33" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000054833" "COASY" "0000054833" "GOSR2" "0000054833" "KRT16" ## 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 = 7 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{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}}" "0000005690" "3" "30" "17" "39767836" "39767836" "subst" "35" "0.56636" "00037" "9" "00001" "2012-09-13 12:05:04" "00006" "2015-12-01 05:11:39" "KRT16_000001" "g.39767836G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.41611584G>A" "" "0000084860" "3" "50" "17" "39766640" "39766640" "subst" "0" "0" "00006" "9" "00006" "2015-12-01 05:08:44" "" "" "KRT16_000002" "g.39766640G>A" "" "{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}" "" "" "not associated with disease phenotype" "Germline" "" "" "0" "" "" "g.41610388G>A" "" "0000248693" "0" "10" "17" "39767744" "39767744" "subst" "33" "0.628325" "02325" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 12:10:22" "KRT16_000004" "g.39767744A>G" "" "" "" "KRT16:c.624T>C (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000249225" "0" "10" "17" "39766504" "39766504" "subst" "33" "0.966626" "02325" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 12:10:18" "KRT16_000003" "g.39766504A>G" "" "" "" "KRT16:c.1281-16T>C" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000281884" "0" "30" "17" "39768734" "39768734" "subst" "33" "0" "02325" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 12:11:48" "KRT16_000006" "g.39768734G>T" "" "" "" "KRT16:c.207C>A (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000281885" "0" "50" "17" "39768724" "39768725" "ins" "33" "0" "02325" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 12:11:12" "KRT16_000005" "g.39768724_39768725insCTG" "" "" "" "KRT16:c.227_229dupAGC (S77dup)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000281886" "0" "30" "17" "39768881" "39768881" "subst" "33" "0" "02325" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 12:12:58" "KRT16_000007" "g.39768881G>A" "" "" "" "KRT16:c.60C>T (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" ## 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. ## Count = 7 "{{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/PolyPhen}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Effect/In_Vitro}}" "{{VariantOnTranscript/Haplotype}}" "{{VariantOnTranscript/SIFT}}" "{{VariantOnTranscript/PolyPhen/Score}}" "{{VariantOnTranscript/Classification}}" "{{VariantOnTranscript/Protein/Domain}}" "{{VariantOnTranscript/Protein/CodonNr}}" "{{VariantOnTranscript/Exon_old}}" "{{VariantOnTranscript/Variant/Type}}" "{{VariantOnTranscript/Consequence/Predicted}}" "{{VariantOnTranscript/Screen/Method}}" "{{VariantOnTranscript/DNA/Legacy}}" "{{VariantOnTranscript/Protein/Legacy}}" "{{VariantOnTranscript/FunctionalAnalysis}}" "{{VariantOnTranscript/FunctionalAnalysis/Technique}}" "{{VariantOnTranscript/Predict/MutationTaster}}" "{{VariantOnTranscript/Grantham}}" "{{VariantOnTranscript/Predict/AGVGD}}" "{{VariantOnTranscript/Codon_change}}" "{{VariantOnTranscript/VariO/DNA}}" "{{VariantOnTranscript/VariO/Protein}}" "{{VariantOnTranscript/VariO/RNA}}" "{{VariantOnTranscript/CpG}}" "{{VariantOnTranscript/Enzyme/Kinase_activity}}" "{{VariantOnTranscript/mRNA_level}}" "{{VariantOnTranscript/Protein_level}}" "{{VariantOnTranscript/Conservation}}" "{{VariantOnTranscript/Predict/Splice}}" "{{VariantOnTranscript/FunctionalPrediction}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/Protein/Stain}}" "{{VariantOnTranscript/Predict/CADD}}" "{{VariantOnTranscript/Remarks_Non_Public}}" "0000005690" "00001488" "30" "614" "55" "614" "55" "c.614+55C>T" "r.(?)" "p.(=)" "2i" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084860" "00001488" "50" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Thr408Met)" "6" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000248693" "00001488" "10" "624" "0" "624" "0" "c.624T>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000249225" "00001488" "10" "1281" "-16" "1281" "-16" "c.1281-16T>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281884" "00001488" "30" "207" "0" "207" "0" "c.207C>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281885" "00001488" "50" "216" "0" "217" "0" "c.216_217insCAG" "r.(?)" "p.(Phe72_Ser73insGln)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281886" "00001488" "30" "60" "0" "60" "0" "c.60C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005690" "0000054833" "0000084860"