### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DOCK6) # 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}}" "DOCK6" "dedicator of cytokinesis 6" "19" "p13.2" "no" "NG_031953.1" "UD_136017669820" "" "http://www.LOVD.nl/DOCK6" "" "1" "19189" "57572" "614194" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/DOCK6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-02-07 16:07:56" "00006" "2025-08-29 19:33:55" ## 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}}" "00006618" "DOCK6" "dedicator of cytokinesis 6" "001" "NM_020812.3" "" "NP_065863.2" "" "" "" "-52" "6348" "6144" "11373168" "11309969" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01016" "AOS2" "Adams-Oliver syndrome, type 2 (AOS-2)" "AR" "614219" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04179" "AOS" "Adams-Oliver syndrome (AOS)" "" "" "" "" "" "00006" "2015-02-07 15:59:17" "00006" "2015-03-13 12:45:54" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "06886" "HR" "hypophosphataemic rickets" "" "" "" "" "" "00006" "2021-12-18 20:30:38" "00006" "2021-12-18 20:31:29" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DOCK6" "00139" "DOCK6" "01016" ## Individuals ## Do not remove or alter this header ## ## Count = 48 "{{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}}" "00029772" "" "" "" "1" "" "00007" "{PMID:Shaheen 2011:21820096}" "5-generation family, unaffected carrier parents, has affected niece (PatV12)" "F" "yes" "Saudi Arabia" ">00y11m" "0" "" "" "Arab" "" "00029773" "" "" "" "1" "" "00007" "{PMID:Shaheen 2011:21820096}" "4-generation family, unaffected carrier parents" "F" "yes" "Saudi Arabia" ">03y06m" "0" "" "" "Arab" "" "00029774" "" "" "" "2" "" "00007" "{PMID:Shaheen 2013:23522784}" "4-generation family, unaffected carrier parents; brother of #00029774" "M" "yes" "(Saudi Arabia)" ">01y00m" "0" "" "" "Arab?" "" "00029775" "" "" "" "1" "" "00007" "{PMID:Shaheen 2013:23522784}" "4-generation family, unaffected carrier parents; sister of #00029773" "F" "yes" "(Saudi Arabia)" "?" "0" "" "" "Arab?" "" "00029776" "" "" "" "2" "" "00007" "{PMID:Shaheen 2013:23522784}" "4-generation family, unaffected carrier parents, 2 affected sisters" "F" "yes" "(Saudi Arabia)" ">02y00m" "0" "" "" "Arab?" "" "00029777" "" "" "" "1" "" "00007" "{PMID:Lehman 2014:25091416}" "2-generation family, unaffected carrier parents" "F" "no" "" ">02y00m" "0" "" "" "Northern European" "" "00029778" "" "" "" "1" "" "00007" "" "" "F" "yes" "Turkey" ">05y00m" "0" "" "" "" "" "00029779" "" "" "" "1" "" "00007" "" "" "M" "no" "" "<10y00m" "0" "" "" "" "" "00029780" "" "" "" "1" "" "00007" "" "" "M" "yes" "Turkey" ">20y00m" "0" "" "" "" "" "00029781" "" "" "" "1" "" "00007" "" "" "F" "yes" "Turkey" ">00y03m" "0" "" "" "" "" "00029782" "" "" "" "1" "" "00007" "{PMID:Prothero 2007:17159513}" "" "M" "yes" "Afghanistan" ">09y00m" "0" "" "" "" "" "00029783" "" "" "" "2" "" "00007" "{PMID:Orstavik 1995:8849019}" "sister of #00029783" "F" "no" "Norway" "?" "0" "" "" "" "" "00029784" "" "" "" "1" "" "00007" "{PMID:Orstavik 1995:8849019}" "brother of #00029782" "M" "no" "Norway" "00y00m" "0" "" "" "" "" "00029785" "" "" "" "2" "" "00007" "" "sister of #00029785" "F" "no" "" ">07y00m" "0" "" "" "white" "" "00029786" "" "" "" "1" "" "00007" "" "brother of #00029784" "M" "no" "" ">08y00m" "0" "" "" "white" "" "00029787" "" "" "" "1" "" "00007" "" "" "F" "yes" "" "?" "0" "" "" "" "" "00029788" "" "" "" "1" "" "00007" "" "" "F" "yes" "Morocco" ">07y00m" "0" "" "" "" "" "00029789" "" "" "" "1" "" "00007" "" "" "F" "yes" "Morocco" "?" "0" "" "" "" "" "00034059" "" "" "" "1" "" "00007" "" "cohort of 70 families from Germany, Belgium, UK" "" "" "" "" "0" "" "" "(Europe)" "" "00034062" "" "" "" "1" "" "00007" "" "cohort of 70 families from Germany, Belgium, UK" "" "" "" "" "0" "" "" "(Europe)" "" "00034063" "" "" "" "1" "" "00007" "" "cohort of 70 families from Germany, Belgium, UK" "" "" "" "" "0" "" "" "(Europe)" "" "00034064" "" "" "" "2" "" "00007" "" "cohort of 70 families from Germany, Belgium, UK" "" "" "" "" "0" "" "" "(Europe)" "" "00034065" "" "" "" "1" "" "00007" "" "cohort of 70 families from Germany, Belgium, UK" "" "" "" "" "0" "" "" "(Europe)" "" "00034066" "" "" "" "1" "" "00007" "" "cohort of 70 families from Germany, Belgium, UK" "" "" "" "" "0" "" "" "(Europe)" "" "00034067" "" "" "" "1" "" "00007" "" "cohort of 70 families from Germany, Belgium, UK" "" "" "" "" "0" "" "" "(Europe)" "" "00034068" "" "" "" "1" "" "00007" "" "cohort of 70 families from Germany, Belgium, UK" "" "" "" "" "0" "" "" "(Europe)" "" "00034069" "" "" "" "1" "" "00007" "" "cohort of 70 families from Germany, Belgium, UK" "" "" "" "" "0" "" "" "(Europe)" "" "00034070" "" "" "" "1" "" "00007" "" "cohort of 70 families from Germany, Belgium, UK" "" "" "" "" "0" "" "" "(Europe)" "" "00034071" "" "" "" "1" "" "00007" "" "cohort of 70 families from Germany, Belgium, UK" "" "" "" "" "0" "" "" "(Europe)" "" "00034072" "" "" "" "1" "" "00007" "" "cohort of 70 families from Germany, Belgium, UK" "" "" "" "" "0" "" "" "(Europe)" "" "00034073" "" "" "" "1" "" "00007" "" "cohort of 70 families from Germany, Belgium, UK" "" "" "" "" "0" "" "" "(Europe)" "" "00034074" "" "" "" "1" "" "00007" "" "cohort of 70 families from Germany, Belgium, UK" "" "" "" "" "0" "" "" "(Europe)" "" "00292031" "" "" "" "25" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292032" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292033" "" "" "" "21" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296754" "" "" "" "1" "" "03651" "" "" "M" "no" "(China)" "" "0" "" "" "" "" "00331401" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "15DG0742" "00331402" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (F, M)" "F;M" "yes" "" "" "0" "" "" "Arab" "10DG1365, 10DG1712" "00331403" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "12DG2564" "00391870" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "059P" "00397338" "" "" "" "1" "" "00006" "{PMID:Gu 2018:29901142}" "" "" "" "China" "" "0" "" "" "" "" "00397339" "" "" "" "1" "" "00006" "{PMID:Gu 2018:29901142}" "" "" "" "China" "" "0" "" "" "" "" "00397340" "" "" "" "1" "" "00006" "{PMID:Gu 2018:29901142}" "" "" "" "China" "" "0" "" "" "" "" "00417195" "" "" "" "1" "" "04382" "" "Non-consanguineous family with two affected children" "-" "no" "Mexico" "" "" "" "" "" "" "00446573" "" "" "" "1" "" "04614" "" "" "F" "no" "Spain" "" "" "" "" "" "" "00453746" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV980" "00453793" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV966" "00466389" "" "" "" "1" "" "01164" "" "" "F" "no" "? (unknown)" "" "0" "" "" "" "342561" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 49 "{{individualid}}" "{{diseaseid}}" "00029772" "04179" "00029773" "04179" "00029774" "04179" "00029775" "04179" "00029776" "04179" "00029777" "04179" "00029778" "04179" "00029779" "04179" "00029780" "04179" "00029781" "04179" "00029782" "04179" "00029783" "04179" "00029784" "04179" "00029785" "04179" "00029786" "04179" "00029787" "04179" "00029788" "04179" "00029789" "04179" "00034059" "04179" "00034062" "04179" "00034063" "04179" "00034064" "04179" "00034065" "04179" "00034066" "04179" "00034067" "04179" "00034068" "04179" "00034069" "04179" "00034070" "04179" "00034071" "04179" "00034072" "04179" "00034073" "04179" "00034074" "04179" "00292031" "00198" "00292032" "00198" "00292033" "00198" "00296754" "01016" "00331401" "05517" "00331402" "05517" "00331403" "05517" "00391870" "00139" "00391870" "01016" "00397338" "06886" "00397339" "06886" "00397340" "06886" "00417195" "01016" "00446573" "01016" "00453746" "00152" "00453793" "00152" "00466389" "01016" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00152, 00198, 01016, 04179, 05517, 06886 ## Count = 41 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000025737" "04179" "00029773" "00007" "Familial, autosomal recessive" "03y06m" "scalp defect; TTLD of hands and feet; microcephaly; developmental delay;" "" "" "" "" "" "" "" "" "" "" "" "0000025738" "04179" "00029774" "00007" "Familial, autosomal recessive" "01y00m" "scalp defect; TTLD of hands and feet; aortic valve dysplasia; ventricular dilatation / brain atrophy; periventricular lesions (calcification, gliosis); abdominal skin defect;" "" "" "" "" "" "" "" "" "" "" "" "0000025739" "04179" "00029775" "00007" "Familial, autosomal recessive" "?" "scalp defects; TTLD of hands and feet; ventricular dilatation / brain atrophy; periventricular lesions (calcification, gliosis); seizures / epilepsy; gastroschisis;" "" "" "" "" "" "" "" "" "" "" "" "0000025740" "04179" "00029776" "00007" "Familial, autosomal recessive" "02y00m" "scalp defect; TTLD of hands and feet; periventricular lesions (calcification, gliosis); pachygyria; optic atrophy; seizures / epilepsy;" "" "" "" "" "" "" "" "" "" "" "" "0000025741" "04179" "00029777" "00007" "Familial, autosomal recessive" "02y00m" "IUGR; scalp defect; TTLD of hands and feet; tetralogy of Fallot; persistent left superior vena cava; periventricular lesions (calcification, gliosis); porencephaly; microcephaly; retinal detachment; severe ID; seizures / epilepsy; placental vasculopathy; neonatal thrombocytopenia; small bowel infarction;" "" "" "" "" "" "" "" "" "" "" "" "0000025742" "04179" "00029778" "00007" "Familial, autosomal recessive" "05y00m" "scalp defect; TTLD of hands and feet; microcephaly; microphthalmia; retinal detachment; vitreous opacities/membranes; anterior chamber abnormality; developmental delay; seizures / epilepsy; high palate;" "" "" "" "" "" "" "" "" "" "" "" "0000025743" "04179" "00029779" "00007" "Familial, autosomal recessive" "10y00m" "scalp defect; TTLD of hands and feet; ventricular dilatation / brain atrophy; corpus callosum hypoplasia/atrophy; microcephaly; ocular anomaly; severe ID; seizures / epilepsy; cerebral palsy / spasticity; CMTC; single umbilical artery; cryptorchidism;" "" "" "" "" "" "" "" "" "" "" "" "0000025744" "04179" "00029780" "00007" "Familial, autosomal dominant" "20y00m" "IUGR; scalp defect; TTLD of hands and feet; ventricular dilatation / brain atrophy; periventricular lesions (calcification, gliosis); microcephaly; microphthalmia; retinal detachment; anterior chamber abnormality; severe ID; seizures / epilepsy; cerebral palsy / spasticity; CMTC; abdominal skin defect;" "" "" "" "" "" "" "" "" "" "" "" "0000025745" "04179" "00029781" "00007" "Familial, autosomal recessive" "00y03m" "scalp defect; TTLD of hands and feet; patent ductus arteriosus; ventricular dilatation / brain atrophy; microcephaly; microphthalmia; knee dislocation;" "" "" "" "" "" "" "" "" "" "" "" "0000025746" "04179" "00029782" "00007" "Familial, autosomal recessive" "09y00m" "IUGR; scalp defect; TTLD of hands and feet; ventricular dilatation / brain atrophy; corpus callosum hypoplasia/atrophy; periventricular lesions (calcification, gliosis); microcephaly; microphthalmia; retinal detachment; moderate ID; seizures / epilepsy; cryptorchidism;" "" "" "" "" "" "" "" "" "" "" "" "0000025747" "04179" "00029783" "00007" "Familial, autosomal recessive" "?" "scalp defect; TTLD of hands and feet; ventricular septal defect; ventricular dilatation / brain atrophy; periventricular lesions (calcification, gliosis); microcephaly; microphthalmia; retinal detachment; vitreous opacities/membranes; severe ID; seizures / epilepsy; cerebral palsy / spasticity; abdominal skin defects; absence of right patella;" "" "" "" "" "" "" "" "" "" "" "" "0000025748" "04179" "00029784" "00007" "Familial, autosomal recessive" "00y00m" "IUGR; scalp defects; TTLD of hands and feet; ventricular dilatation / brain atrophy; corpus callosum hypoplasia/atrophy; retinal detachment; abdominal skin defect; patella fixed to skin;" "" "" "" "" "" "" "" "" "" "" "" "0000025749" "04179" "00029785" "00007" "Familial, autosomal recessive" "07y00m" "scalp defect; TTLD of hands and feet; brain anomalies; microcephaly; ocular anomalies; severe ID; seizures / epilepsy; abdominal skin defect;" "" "" "" "" "" "" "" "" "" "" "" "0000025750" "04179" "00029786" "00007" "Familial, autosomal recessive" "08y00m" "IUGR; TTLD of feet; total anomalous pulmonary venous connection; ocular anomalies; mild ID; hypothyroidism;" "" "" "" "" "" "" "" "" "" "" "" "0000025751" "04179" "00029787" "00007" "Familial, autosomal recessive" "?" "scalp defect; TTLD of hands and feet; no further data available;" "" "" "" "" "" "" "" "" "" "" "" "0000025752" "04179" "00029788" "00007" "Familial, autosomal recessive" "07y00m" "scalp defect; TTLD of hands and feet; periventricular lesions (calcification, gliosis); no further data available;" "" "" "" "" "" "" "" "" "" "" "" "0000025753" "04179" "00029789" "00007" "Familial, autosomal recessive" "?" "scalp defect; TTLD of hands and feet; ventricular dilatation / brain atrophy; corpus callosum hypoplasia/atrophy; periventricular lesions (calcification, gliosis); microcephaly; seizures / epilepsy;" "" "" "" "" "" "" "" "" "" "" "" "0000025754" "04179" "00029772" "00007" "Familial, autosomal recessive" "00y11m" "scalp defect; TTLD of hands and feet; ventricular dilatation / brain atrophy; periventricular lesions (calcification, gliosis); microcephaly; optic atrophy; severe ID; seizures / epilepsy; cerebral palsy / spasticity" "" "" "" "" "" "" "" "" "" "" "" "0000027454" "04179" "00034059" "00007" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027457" "04179" "00034062" "00007" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027458" "04179" "00034063" "00007" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027459" "04179" "00034064" "00007" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027460" "04179" "00034065" "00007" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027461" "04179" "00034066" "00007" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027462" "04179" "00034067" "00007" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027463" "04179" "00034068" "00007" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027464" "04179" "00034069" "00007" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027465" "04179" "00034070" "00007" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027466" "04179" "00034071" "00007" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027467" "04179" "00034072" "00007" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027468" "04179" "00034073" "00007" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027469" "04179" "00034074" "00007" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000224155" "01016" "00296754" "03651" "Familial, X-linked recessive" "00y08m" "no microcephaly (-HP000252), no scalp defects, no developmental delay, no dilatation" "00y01m" "00y01m" "" "" "" "" "" "" "" "" "" "0000249593" "05517" "00331401" "00000" "Familial, autosomal recessive" "" "Brachydactyly, Small nail" "" "" "" "" "" "" "" "" "Rachydactylies (with extraskeletal manifestations)" "skeletal dysplasia" "" "0000249594" "05517" "00331402" "00000" "Familial, autosomal recessive" "" "Global developmental delay, Seizures, Blindness, Microcephaly, Aplasia cutis congenita of No" "" "" "" "" "" "" "" "" "Rachydactylies (with extraskeletal manifestations)" "skeletal dysplasia" "" "0000249595" "05517" "00331403" "00000" "Familial, autosomal recessive" "" "Aplasia cutis congenita, Depressed nasal bridge, Bulbous nose, Single transverse palmar crYes" "" "" "" "" "" "" "" "" "Rachydactylies (with extraskeletal manifestations)" "skeletal dysplasia" "" "0000308705" "01016" "00417195" "04382" "Familial, autosomal recessive" "02y" "microcephaly (<3rd centile, HP:0000252), aplasia cutis congenita scalp (HP:0007385), global developmental delay (HP:0001263)" "00y" "04y" "" "" "" "" "" "" "AOS2" "Adams-Oliver syndrome" "" "0000335775" "01016" "00446573" "04614" "Familial, autosomal recessive" "17" "aplasia cutis congenita of the scalp (HP:0007385); hypertelorism (HP:0000316); vitreoretinal abnormalities, congenita (HP:0007773); cutis marmorata (HP:0000965); calcifications of cerebral ventricles" "00y00m17d" "01y02m" "Congenital onset" "" "" "" "" "" "AOS2" "" "" "0000342403" "00152" "00453746" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342450" "00152" "00453793" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000351752" "01016" "00466389" "01164" "Familial, autosomal recessive" "09y" "Neurodevelopmental delay, Microcephaly, Abnormality of the distal phalanges of the toes, Abnormal distal phalanx morphology of finger, 2-3 toe syndactyly" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 49 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029815" "00029772" "1" "00007" "00007" "2015-01-28 15:50:14" "" "" "SEQ" "DNA" "blood" "" "0000029816" "00029773" "1" "00007" "00007" "2015-01-28 16:13:00" "" "" "SEQ" "DNA" "blood" "" "0000029817" "00029774" "1" "00007" "00007" "2015-01-28 16:31:39" "" "" "SEQ" "DNA" "blood" "" "0000029818" "00029775" "1" "00007" "00007" "2015-01-28 17:22:29" "00006" "2015-02-20 16:08:03" "SEQ" "DNA" "blood" "" "0000029819" "00029776" "1" "00007" "00007" "2015-01-28 17:29:40" "" "" "RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000029820" "00029777" "1" "00007" "00007" "2015-01-28 17:40:46" "" "" "SEQ" "DNA" "blood" "" "0000029821" "00029778" "1" "00007" "00007" "2015-01-28 18:04:42" "" "" "SEQ" "DNA" "blood" "" "0000029822" "00029779" "1" "00007" "00007" "2015-01-28 18:13:33" "" "" "SEQ" "DNA" "blood" "" "0000029823" "00029780" "1" "00007" "00007" "2015-01-28 18:24:45" "" "" "SEQ" "DNA" "blood" "" "0000029824" "00029781" "1" "00007" "00007" "2015-01-28 18:30:20" "" "" "SEQ" "DNA" "blood" "" "0000029825" "00029782" "1" "00007" "00007" "2015-01-28 18:36:52" "" "" "SEQ" "DNA" "blood" "" "0000029826" "00029783" "1" "00007" "00007" "2015-01-28 18:44:09" "" "" "SEQ" "DNA" "blood" "" "0000029827" "00029784" "1" "00007" "00007" "2015-01-28 18:53:30" "" "" "SEQ" "DNA" "blood" "" "0000029828" "00029785" "1" "00007" "00007" "2015-01-28 19:00:40" "" "" "SEQ" "DNA" "blood" "" "0000029829" "00029786" "1" "00007" "00007" "2015-01-28 19:06:55" "" "" "SEQ" "DNA" "blood" "" "0000029830" "00029787" "1" "00007" "00007" "2015-01-28 19:13:31" "" "" "SEQ" "DNA" "blood" "" "0000029831" "00029788" "1" "00007" "00007" "2015-01-28 19:19:02" "" "" "MLPA;SEQ" "DNA" "blood" "" "0000029832" "00029789" "1" "00007" "00007" "2015-01-28 19:28:41" "" "" "SEQ" "DNA" "blood" "" "0000034128" "00034059" "1" "00007" "00007" "2015-03-04 13:29:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034131" "00034062" "1" "00007" "00007" "2015-03-04 13:41:04" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034132" "00034063" "1" "00007" "00007" "2015-03-04 13:42:00" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034133" "00034064" "1" "00007" "00007" "2015-03-04 13:43:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034134" "00034065" "1" "00007" "00007" "2015-03-04 13:45:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034135" "00034066" "1" "00007" "00007" "2015-03-04 13:46:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034136" "00034067" "1" "00007" "00007" "2015-03-04 13:47:33" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034137" "00034068" "1" "00007" "00007" "2015-03-04 13:49:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034138" "00034069" "1" "00007" "00007" "2015-03-04 13:50:16" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034139" "00034070" "1" "00007" "00007" "2015-03-04 13:51:23" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034140" "00034071" "1" "00007" "00007" "2015-03-04 13:52:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034141" "00034072" "1" "00007" "00007" "2015-03-04 13:54:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034142" "00034073" "1" "00007" "00007" "2015-03-04 13:56:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034143" "00034074" "1" "00007" "00007" "2015-03-04 13:57:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000293199" "00292031" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293200" "00292032" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293201" "00292033" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297864" "00296754" "1" "03651" "03651" "2020-04-12 13:56:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000332620" "00331401" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332621" "00331402" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332622" "00331403" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000393111" "00391870" "1" "02494" "02494" "2021-11-19 12:55:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000398578" "00397338" "1" "00006" "00006" "2021-12-20 15:11:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000398579" "00397339" "1" "00006" "00006" "2021-12-20 15:11:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000398580" "00397340" "1" "00006" "00006" "2021-12-20 15:11:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000418477" "00417195" "1" "04382" "04382" "2022-09-13 17:05:15" "" "" "arrayCNV" "DNA" "blood" "" "0000448145" "00446573" "1" "04614" "04614" "2024-01-18 09:33:56" "" "" "SEQ-NG" "DNA" "blood" "whole genome sequencing" "0000448146" "00446573" "1" "04614" "04614" "2024-01-18 09:45:00" "" "" "SEQ-NG" "DNA" "blood" "whole genome sequencing" "0000455358" "00453746" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455405" "00453793" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000468051" "00466389" "1" "01164" "01164" "2025-08-27 10:16:27" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{geneid}}" "0000029815" "DOCK6" "0000029816" "DOCK6" "0000029817" "DOCK6" "0000029818" "DOCK6" "0000029818" "EOGT" "0000029819" "DOCK6" "0000029820" "DOCK6" "0000029821" "DOCK6" "0000029822" "DOCK6" "0000029823" "DOCK6" "0000029824" "DOCK6" "0000029825" "DOCK6" "0000029826" "DOCK6" "0000029827" "DOCK6" "0000029828" "DOCK6" "0000029829" "DOCK6" "0000029830" "DOCK6" "0000029831" "DOCK6" "0000029832" "DOCK6" "0000034128" "DOCK6" "0000034131" "DOCK6" "0000034132" "DOCK6" "0000034133" "DOCK6" "0000034134" "DOCK6" "0000034135" "DOCK6" "0000034136" "DOCK6" "0000034137" "DOCK6" "0000034138" "DOCK6" "0000034139" "DOCK6" "0000034140" "DOCK6" "0000034141" "DOCK6" "0000034142" "DOCK6" "0000034143" "DOCK6" "0000297864" "DOCK6" "0000332620" "DOCK6" "0000332621" "DOCK6" "0000332622" "DOCK6" "0000468051" "DOCK6" ## 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 = 273 "{{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}}" "0000055901" "3" "70" "19" "11353957" "11353960" "del" "0" "00007" "DOCK6_000001" "g.11353957_11353960del" "" "{PMID:Shaheen 2011:21820096}, {OMIM614194:0001}" "" "1362_1365delAACT" "" "Germline" "" "" "0" "" "" "g.11243281_11243284del" "" "likely pathogenic" "" "0000055902" "3" "70" "19" "11354246" "11354246" "dup" "0" "00007" "DOCK6_000002" "g.11354246dup" "" "{PMID:Shaheen 2011:21820096}, {OMIM614194:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.11243570dup" "" "likely pathogenic" "" "0000055903" "3" "70" "19" "11346310" "11346310" "dup" "0" "00007" "DOCK6_000003" "g.11346310dup" "" "{PMID:Shaheen 2013:23522784}, {OMIM614194:0003}" "" "" "" "Germline" "" "rs397509398" "0" "" "" "g.11235634dup" "" "likely pathogenic" "" "0000055904" "3" "70" "19" "11346310" "11346310" "dup" "0" "00007" "DOCK6_000003" "g.11346310dup" "" "{PMID:Shaheen 2013:23522784}, {OMIM614194:0003}" "" "" "" "Germline" "" "rs397509398" "0" "" "" "g.11235634dup" "" "likely pathogenic" "" "0000055905" "3" "70" "19" "11325326" "11325326" "subst" "0" "00007" "DOCK6_000004" "g.11325326C>G" "" "{PMID:Shaheen 2013:23522784}, {OMIM614194:0004}" "" "" "" "Germline" "" "rs397509399" "0" "" "" "g.11214650C>G" "" "likely pathogenic" "" "0000055906" "10" "70" "19" "11333460" "11333461" "del" "7.63538E-5" "00007" "DOCK6_000005" "g.11333460_11333461del" "" "{PMID:Lehman 2014:25091416}" "" "3190_3191del2" "" "Germline" "" "" "0" "" "" "g.11222784_11222785del" "" "likely pathogenic" "" "0000055907" "21" "70" "19" "11323863" "11323863" "subst" "7.34886E-5" "00007" "DOCK6_000006" "g.11323863C>A" "" "{PMID:Lehman 2014:25091416}" "" "" "" "Germline" "" "" "0" "" "" "g.11213187C>A" "" "likely pathogenic" "" "0000055908" "3" "70" "19" "11333691" "11333691" "subst" "0" "00007" "DOCK6_000007" "g.11333691A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.11223015A>G" "" "likely pathogenic" "" "0000055909" "11" "70" "19" "11353957" "11353960" "del" "0" "00007" "DOCK6_000001" "g.11353957_11353960del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.11243281_11243284del" "" "likely pathogenic" "" "0000055910" "21" "70" "19" "11323851" "11323851" "subst" "2.8635E-5" "00007" "DOCK6_000008" "g.11323851C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.11213175C>T" "" "likely pathogenic" "" "0000055911" "3" "70" "19" "11354023" "11354024" "delins" "0" "00007" "DOCK6_000009" "g.11354023_11354024delinsA" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.11243347_11243348delinsA" "" "likely pathogenic" "" "0000055912" "3" "70" "19" "11319745" "11319745" "subst" "0" "00007" "DOCK6_000010" "g.11319745G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.11209069G>A" "" "likely pathogenic" "" "0000055913" "0" "70" "19" "11333497" "11333497" "subst" "0" "00007" "DOCK6_000011" "g.11333497C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.11222821C>T" "" "likely pathogenic" "" "0000055914" "11" "70" "19" "11358760" "11358760" "subst" "0" "00007" "DOCK6_000012" "g.11358760A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.11248084A>T" "" "likely pathogenic" "" "0000055915" "21" "90" "19" "11311390" "11311390" "subst" "0.000209614" "00007" "DOCK6_000013" "g.11311390A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.11200714A>G" "" "pathogenic" "" "0000055916" "11" "70" "19" "11358760" "11358760" "subst" "0" "00007" "DOCK6_000012" "g.11358760A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.11248084A>T" "" "likely pathogenic" "" "0000055917" "21" "70" "19" "11311390" "11311390" "subst" "0.000209614" "00007" "DOCK6_000013" "g.11311390A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.11200714A>G" "" "likely pathogenic" "" "0000055918" "11" "70" "19" "11348383" "11348386" "del" "0" "00007" "DOCK6_000014" "g.11348383_11348386del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.11237707_11237710del" "" "likely pathogenic" "" "0000055919" "21" "70" "19" "11326058" "11326058" "subst" "0" "00007" "DOCK6_000015" "g.11326058C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.11215382C>A" "" "likely pathogenic" "" "0000055920" "11" "70" "19" "11348383" "11348386" "del" "0" "00007" "DOCK6_000014" "g.11348383_11348386del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.11237707_11237710del" "" "likely pathogenic" "" "0000055921" "21" "70" "19" "11326058" "11326058" "subst" "0" "00007" "DOCK6_000015" "g.11326058C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.11215382C>A" "" "likely pathogenic" "" "0000055922" "3" "70" "19" "11362818" "11362818" "subst" "0" "00007" "DOCK6_000016" "g.11362818C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.11252142C>A" "" "likely pathogenic" "" "0000055923" "3" "70" "19" "11310230" "11314552" "delins" "0" "00007" "DOCK6_000017" "g.11310230_11314552delinsCAGCCCATG" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.11199554_11203876delinsCAGCCCATG" "" "likely pathogenic" "" "0000055924" "3" "70" "19" "11346310" "11346310" "dup" "0" "00007" "DOCK6_000003" "g.11346310dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.11235634dup" "" "likely pathogenic" "" "0000060661" "0" "50" "19" "11364347" "11364347" "subst" "0.000573432" "00007" "DOCK6_000018" "g.11364347G>C" "1/156 chromosomes" "" "" "" "" "Unknown" "?" "rs201065561" "0" "" "" "g.11253671G>C" "" "VUS" "" "0000060664" "0" "70" "19" "11353962" "11353962" "subst" "8.24753E-5" "00007" "DOCK6_000021" "g.11353962G>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.11243286G>A" "" "likely pathogenic" "" "0000060665" "0" "70" "19" "11353770" "11353770" "subst" "2.8437E-5" "00007" "DOCK6_000022" "g.11353770G>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.11243094G>A" "" "likely pathogenic" "" "0000060666" "0" "50" "19" "11348474" "11348474" "subst" "0.0031184" "00007" "DOCK6_000033" "g.11348474G>C" "2/156 chromosomes" "" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Unknown" "?" "rs199764395" "0" "" "" "" "" "VUS" "" "0000060667" "0" "50" "19" "11347525" "11347525" "subst" "0.002896" "00007" "DOCK6_000032" "g.11347525C>T" "1/156 chromosomes" "" "" "" "" "Unknown" "?" "rs199838752" "0" "" "" "g.11236849C>T" "" "VUS" "" "0000060668" "0" "50" "19" "11339663" "11339663" "subst" "0.000227848" "00007" "DOCK6_000031" "g.11339663C>T" "" "" "" "" "" "Unknown" "?" "rs143194982" "0" "" "" "g.11228987C>T" "" "VUS" "" "0000060669" "0" "50" "19" "11327611" "11327611" "subst" "0.00047125" "00007" "DOCK6_000030" "g.11327611G>A" "" "" "" "" "" "Unknown" "?" "rs200843111" "0" "" "" "g.11216935G>A" "" "VUS" "" "0000060670" "0" "50" "19" "11326585" "11326585" "subst" "0.008577" "00007" "DOCK6_000029" "g.11326585G>A" "" "" "" "" "" "Unknown" "?" "rs112911897" "0" "" "" "g.11215909G>A" "" "VUS" "" "0000060671" "0" "70" "19" "11322471" "11322471" "subst" "9.20459E-5" "00007" "DOCK6_000028" "g.11322471G>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.11211795G>A" "" "likely pathogenic" "" "0000060672" "0" "50" "19" "11319632" "11319632" "subst" "0.00225489" "00007" "DOCK6_000027" "g.11319632C>T" "" "" "" "" "" "Unknown" "?" "rs72985308" "0" "" "" "g.11208956C>T" "" "VUS" "" "0000060673" "0" "50" "19" "11314763" "11314763" "subst" "0.000901022" "00007" "DOCK6_000026" "g.11314763G>T" "" "" "" "" "" "Unknown" "?" "rs56243833" "0" "" "" "g.11204087G>T" "" "VUS" "" "0000060674" "0" "50" "19" "11312613" "11312613" "subst" "0.000690372" "00007" "DOCK6_000025" "g.11312613G>A" "" "" "" "" "" "Unknown" "?" "rs200959822" "0" "" "" "g.11201937G>A" "" "VUS" "" "0000060675" "0" "50" "19" "11312556" "11312556" "subst" "0.00123363" "00007" "DOCK6_000024" "g.11312556C>G" "1/156 chromosomes" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.11201880C>G" "" "VUS" "" "0000060676" "0" "50" "19" "11311514" "11311514" "subst" "0.000703647" "00007" "DOCK6_000023" "g.11311514G>C" "1/156 chromosomes" "" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Unknown" "?" "rs188183013" "0" "" "" "" "" "VUS" "" "0000061672" "0" "30" "19" "11356377" "11356377" "subst" "0.00624746" "00007" "DOCK6_000019" "g.11356377G>A" "2/156 chromosomes" "" "" "" "" "Unknown" "" "rs146599144" "0" "" "" "g.11245701G>A" "" "likely benign" "" "0000061673" "0" "30" "19" "11356377" "11356377" "subst" "0.00624746" "00006" "DOCK6_000019" "g.11356377G>A" "2/156 chromosomes" "" "" "" "" "Unknown" "" "rs146599144" "0" "" "" "g.11245701G>A" "" "likely benign" "" "0000061674" "0" "50" "19" "11354031" "11354031" "subst" "0.00305176" "00006" "DOCK6_000020" "g.11354031C>T" "1/156 chromosomes" "" "" "" "" "Unknown" "" "rs143655255" "0" "" "" "g.11243355C>T" "" "VUS" "" "0000247558" "0" "10" "19" "11326119" "11326119" "subst" "0.569472" "02330" "DOCK6_000053" "g.11326119A>G" "" "" "" "DOCK6(NM_020812.4):c.4050T>C (p.N1350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11215443A>G" "" "benign" "" "0000247559" "0" "10" "19" "11327626" "11327626" "subst" "0.642034" "02330" "DOCK6_000055" "g.11327626A>G" "" "" "" "DOCK6(NM_020812.4):c.3858T>C (p.D1286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11216950A>G" "" "benign" "" "0000247565" "0" "10" "19" "11363146" "11363146" "subst" "0.699401" "02330" "DOCK6_000073" "g.11363146A>T" "" "" "" "DOCK6(NM_020812.4):c.377+12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11252470A>T" "" "benign" "" "0000247573" "0" "10" "19" "11348911" "11348911" "subst" "0.0942263" "02330" "DOCK6_000064" "g.11348911A>G" "" "" "" "DOCK6(NM_020812.4):c.1713T>C (p.A571=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11238235A>G" "" "benign" "" "0000248384" "0" "10" "19" "11326119" "11326119" "subst" "0.569472" "02325" "DOCK6_000053" "g.11326119A>G" "" "" "" "DOCK6(NM_020812.4):c.4050T>C (p.N1350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11215443A>G" "" "benign" "" "0000248385" "0" "10" "19" "11327626" "11327626" "subst" "0.642034" "02325" "DOCK6_000055" "g.11327626A>G" "" "" "" "DOCK6(NM_020812.4):c.3858T>C (p.D1286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11216950A>G" "" "benign" "" "0000248453" "0" "10" "19" "11363146" "11363146" "subst" "0.699401" "02325" "DOCK6_000073" "g.11363146A>T" "" "" "" "DOCK6(NM_020812.4):c.377+12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11252470A>T" "" "benign" "" "0000248711" "0" "10" "19" "11311109" "11311109" "subst" "0.0020085" "02325" "DOCK6_000035" "g.11311109A>T" "" "" "" "DOCK6(NM_020812.4):c.5976T>A (p.I1992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11200433A>T" "" "benign" "" "0000265410" "0" "10" "19" "11348960" "11348960" "subst" "0.0601514" "02330" "DOCK6_000065" "g.11348960G>A" "" "" "" "DOCK6(NM_020812.4):c.1664C>T (p.P555L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11238284G>A" "" "benign" "" "0000265411" "0" "10" "19" "11347493" "11347493" "subst" "0.151401" "02330" "DOCK6_000063" "g.11347493T>C" "" "" "" "DOCK6(NM_020812.4):c.2136A>G (p.T712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11236817T>C" "" "benign" "" "0000265412" "0" "30" "19" "11363475" "11363475" "subst" "2.46049E-5" "02330" "DOCK6_000074" "g.11363475C>T" "" "" "" "DOCK6(NM_020812.3):c.292G>A (p.(Gly98Arg)), DOCK6(NM_020812.4):c.292G>A (p.G98R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11252799C>T" "" "likely benign" "" "0000265413" "0" "10" "19" "11333787" "11333787" "subst" "0.0287974" "02330" "DOCK6_000060" "g.11333787G>A" "" "" "" "DOCK6(NM_020812.3):c.2956-5C>T (p.?), DOCK6(NM_020812.4):c.2956-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11223111G>A" "" "benign" "" "0000265414" "0" "10" "19" "11333596" "11333596" "subst" "0.156975" "02330" "DOCK6_000059" "g.11333596T>C" "" "" "" "DOCK6(NM_020812.4):c.3070-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11222920T>C" "" "benign" "" "0000265415" "0" "10" "19" "11332570" "11332570" "subst" "0.239482" "02330" "DOCK6_000058" "g.11332570T>A" "" "" "" "DOCK6(NM_020812.4):c.3507A>T (p.L1169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11221894T>A" "" "benign" "" "0000265416" "0" "30" "19" "11326585" "11326585" "subst" "0.008577" "02330" "DOCK6_000029" "g.11326585G>A" "" "" "" "DOCK6(NM_020812.3):c.3913C>T (p.(Arg1305Cys)), DOCK6(NM_020812.4):c.3913C>T (p.R1305C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11215909G>A" "" "likely benign" "" "0000265417" "0" "10" "19" "11326125" "11326125" "subst" "0.557627" "02330" "DOCK6_000054" "g.11326125C>T" "" "" "" "DOCK6(NM_020812.4):c.4044G>A (p.P1348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11215449C>T" "" "benign" "" "0000265418" "0" "10" "19" "11323999" "11323999" "subst" "0.00311835" "02330" "DOCK6_000050" "g.11323999C>T" "" "" "" "DOCK6(NM_020812.3):c.4344G>A (p.P1448=), DOCK6(NM_020812.4):c.4344G>A (p.P1448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11213323C>T" "" "benign" "" "0000265419" "0" "10" "19" "11319636" "11319636" "subst" "0.0394325" "02330" "DOCK6_000044" "g.11319636G>A" "" "" "" "DOCK6(NM_020812.3):c.4895C>T (p.(Ala1632Val)), DOCK6(NM_020812.4):c.4895C>T (p.A1632V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11208960G>A" "" "benign" "" "0000265420" "0" "10" "19" "11319491" "11319491" "subst" "0.540776" "02330" "DOCK6_000043" "g.11319491G>A" "" "" "" "DOCK6(NM_020812.4):c.4959C>T (p.N1653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11208815G>A" "" "benign" "" "0000265421" "0" "10" "19" "11314748" "11314748" "subst" "0.0622512" "02330" "DOCK6_000041" "g.11314748C>T" "" "" "" "DOCK6(NM_020812.4):c.5235+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11204072C>T" "" "benign" "" "0000265422" "0" "10" "19" "11313256" "11313256" "subst" "0.394743" "02330" "DOCK6_000039" "g.11313256G>A" "" "" "" "DOCK6(NM_020812.4):c.5361+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11202580G>A" "" "benign" "" "0000265423" "0" "10" "19" "11358799" "11358799" "subst" "0.640609" "02330" "DOCK6_000068" "g.11358799G>A" "" "" "" "DOCK6(NM_020812.4):c.749C>T (p.P250L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11248123G>A" "" "benign" "" "0000267487" "0" "10" "19" "11333787" "11333787" "subst" "0.0287974" "02325" "DOCK6_000060" "g.11333787G>A" "" "" "" "DOCK6(NM_020812.3):c.2956-5C>T (p.?), DOCK6(NM_020812.4):c.2956-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11223111G>A" "" "benign" "" "0000267488" "0" "10" "19" "11332570" "11332570" "subst" "0.239482" "02325" "DOCK6_000058" "g.11332570T>A" "" "" "" "DOCK6(NM_020812.4):c.3507A>T (p.L1169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11221894T>A" "" "benign" "" "0000267489" "0" "10" "19" "11326125" "11326125" "subst" "0.557627" "02325" "DOCK6_000054" "g.11326125C>T" "" "" "" "DOCK6(NM_020812.4):c.4044G>A (p.P1348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11215449C>T" "" "benign" "" "0000267490" "0" "10" "19" "11319636" "11319636" "subst" "0.0394325" "02325" "DOCK6_000044" "g.11319636G>A" "" "" "" "DOCK6(NM_020812.3):c.4895C>T (p.(Ala1632Val)), DOCK6(NM_020812.4):c.4895C>T (p.A1632V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11208960G>A" "" "benign" "" "0000267491" "0" "10" "19" "11319491" "11319491" "subst" "0.540776" "02325" "DOCK6_000043" "g.11319491G>A" "" "" "" "DOCK6(NM_020812.4):c.4959C>T (p.N1653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11208815G>A" "" "benign" "" "0000267492" "0" "10" "19" "11313256" "11313256" "subst" "0.394743" "02325" "DOCK6_000039" "g.11313256G>A" "" "" "" "DOCK6(NM_020812.4):c.5361+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11202580G>A" "" "benign" "" "0000267493" "0" "10" "19" "11358799" "11358799" "subst" "0.640609" "02325" "DOCK6_000068" "g.11358799G>A" "" "" "" "DOCK6(NM_020812.4):c.749C>T (p.P250L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11248123G>A" "" "benign" "" "0000268729" "0" "90" "19" "11322451" "11322451" "subst" "0" "02329" "DOCK6_000047" "g.11322451C>T" "" "" "" "DOCK6(NM_020812.4):c.4751+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11211775C>T" "" "pathogenic" "" "0000275464" "0" "70" "19" "11364318" "11364318" "del" "0" "01943" "DOCK6_000075" "g.11364318del" "" "" "" "DOCK6(NM_020812.3):c.132+1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11253642del" "" "likely pathogenic" "" "0000275465" "0" "30" "19" "11332560" "11332560" "subst" "0.00229639" "01943" "DOCK6_000057" "g.11332560G>A" "" "" "" "DOCK6(NM_020812.3):c.3517C>T (p.R1173W, p.(Arg1173Trp)), DOCK6(NM_020812.4):c.3517C>T (p.R1173W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11221884G>A" "" "likely benign" "" "0000275466" "0" "30" "19" "11323999" "11323999" "subst" "0.00311835" "01943" "DOCK6_000050" "g.11323999C>T" "" "" "" "DOCK6(NM_020812.3):c.4344G>A (p.P1448=), DOCK6(NM_020812.4):c.4344G>A (p.P1448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11213323C>T" "" "likely benign" "" "0000275467" "0" "30" "19" "11313311" "11313311" "subst" "8.12321E-6" "01943" "DOCK6_000040" "g.11313311C>G" "" "" "" "DOCK6(NM_020812.3):c.5310G>C (p.V1770=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11202635C>G" "" "likely benign" "" "0000326178" "0" "30" "19" "11311386" "11311386" "subst" "0.00156988" "01804" "DOCK6_000036" "g.11311386G>A" "" "" "" "DOCK6(NM_020812.3):c.5939+6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11200710G>A" "" "likely benign" "" "0000326179" "0" "50" "19" "11311580" "11311580" "subst" "4.06501E-6" "01804" "DOCK6_000037" "g.11311580C>A" "" "" "" "DOCK6(NM_020812.3):c.5832+5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11200904C>A" "" "VUS" "" "0000326180" "0" "50" "19" "11312678" "11312678" "subst" "0.000426476" "01804" "DOCK6_000038" "g.11312678C>T" "" "" "" "DOCK6(NM_020812.3):c.5575G>A (p.(Asp1859Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11202002C>T" "" "VUS" "" "0000326182" "0" "30" "19" "11319669" "11319669" "subst" "0.00207553" "01804" "DOCK6_000045" "g.11319669A>G" "" "" "" "DOCK6(NM_020812.3):c.4862T>C (p.V1621A, p.(Val1621Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11208993A>G" "" "likely benign" "" "0000326183" "0" "50" "19" "11319709" "11319709" "subst" "2.06415E-5" "01804" "DOCK6_000046" "g.11319709C>T" "" "" "" "DOCK6(NM_020812.3):c.4822G>A (p.(Ala1608Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11209033C>T" "" "VUS" "" "0000326184" "0" "30" "19" "11322471" "11322471" "subst" "9.20459E-5" "01804" "DOCK6_000028" "g.11322471G>A" "" "" "" "DOCK6(NM_001367830.1):c.4837C>T (p.L1613F), DOCK6(NM_020812.3):c.4732C>T (p.(Leu1578Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11211795G>A" "" "likely benign" "" "0000326185" "0" "50" "19" "11322769" "11322769" "subst" "4.51138E-5" "01804" "DOCK6_000048" "g.11322769G>A" "" "" "" "DOCK6(NM_001367830.1):c.4655C>T (p.T1552M), DOCK6(NM_020812.3):c.4550C>T (p.(Thr1517Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11212093G>A" "" "VUS" "" "0000326186" "0" "30" "19" "11322772" "11322772" "subst" "0.000291043" "01804" "DOCK6_000049" "g.11322772G>A" "" "" "" "DOCK6(NM_020812.3):c.4547C>T (p.(Thr1516Met)), DOCK6(NM_020812.4):c.4547C>T (p.T1516M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11212096G>A" "" "likely benign" "" "0000326187" "0" "30" "19" "11325036" "11325036" "subst" "0.00295822" "01804" "DOCK6_000051" "g.11325036T>C" "" "" "" "DOCK6(NM_020812.3):c.4253A>G (p.K1418R, p.(Lys1418Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11214360T>C" "" "likely benign" "" "0000326189" "0" "30" "19" "11327760" "11327760" "subst" "0.000597948" "01804" "DOCK6_000056" "g.11327760C>T" "" "" "" "DOCK6(NM_020812.3):c.3724G>A (p.(Gly1242Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11217084C>T" "" "likely benign" "" "0000326190" "0" "30" "19" "11332560" "11332560" "subst" "0.00229639" "01804" "DOCK6_000057" "g.11332560G>A" "" "" "" "DOCK6(NM_020812.3):c.3517C>T (p.R1173W, p.(Arg1173Trp)), DOCK6(NM_020812.4):c.3517C>T (p.R1173W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11221884G>A" "" "likely benign" "" "0000326191" "0" "50" "19" "11339635" "11339635" "subst" "0.000296866" "01804" "DOCK6_000061" "g.11339635C>G" "" "" "" "DOCK6(NM_020812.3):c.2795G>C (p.(Trp932Ser)), DOCK6(NM_020812.4):c.2795G>C (p.W932S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11228959C>G" "" "VUS" "" "0000326192" "0" "50" "19" "11343968" "11343968" "subst" "0.000174741" "01804" "DOCK6_000062" "g.11343968G>A" "" "" "" "DOCK6(NM_020812.3):c.2629C>T (p.(Arg877Cys)), DOCK6(NM_020812.4):c.2629C>T (p.R877C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11233292G>A" "" "VUS" "" "0000326193" "0" "50" "19" "11353731" "11353731" "subst" "0.000357796" "01804" "DOCK6_000066" "g.11353731G>A" "" "" "" "DOCK6(NM_020812.3):c.1480+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11243055G>A" "" "VUS" "" "0000326195" "0" "50" "19" "11353770" "11353770" "subst" "2.8437E-5" "01804" "DOCK6_000022" "g.11353770G>A" "" "" "" "DOCK6(NM_020812.3):c.1445C>T (p.(Pro482Leu)), DOCK6(NM_020812.4):c.1445C>T (p.P482L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11243094G>A" "" "VUS" "" "0000326196" "0" "30" "19" "11354031" "11354031" "subst" "0.00305176" "01804" "DOCK6_000020" "g.11354031C>T" "" "" "" "DOCK6(NM_020812.3):c.1289G>A (p.R430H, p.(Arg430His)), DOCK6(NM_020812.4):c.1289G>A (p.R430H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11243355C>T" "" "likely benign" "" "0000326197" "0" "30" "19" "11358788" "11358788" "subst" "0.00200676" "01804" "DOCK6_000067" "g.11358788G>A" "" "" "" "DOCK6(NM_020812.3):c.760C>T (p.(Arg254Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11248112G>A" "" "likely benign" "" "0000326198" "0" "50" "19" "11358803" "11358803" "subst" "4.54178E-5" "01804" "DOCK6_000069" "g.11358803G>A" "" "" "" "DOCK6(NM_020812.3):c.745C>T (p.(Arg249Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11248127G>A" "" "VUS" "" "0000326199" "0" "50" "19" "11361650" "11361650" "subst" "0" "01804" "DOCK6_000070" "g.11361650A>G" "" "" "" "DOCK6(NM_020812.3):c.620T>C (p.(Leu207Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11250974A>G" "" "VUS" "" "0000326200" "0" "30" "19" "11361753" "11361753" "subst" "0.000251676" "01804" "DOCK6_000071" "g.11361753G>A" "" "" "" "DOCK6(NM_020812.3):c.517C>T (p.(Arg173Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11251077G>A" "" "likely benign" "" "0000326201" "0" "50" "19" "11362851" "11362851" "subst" "7.66307E-5" "01804" "DOCK6_000072" "g.11362851G>A" "" "" "" "DOCK6(NM_020812.3):c.451C>T (p.(Arg151Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11252175G>A" "" "VUS" "" "0000326202" "0" "30" "19" "11364347" "11364347" "subst" "0.000573432" "01804" "DOCK6_000018" "g.11364347G>C" "" "" "" "DOCK6(NM_020812.3):c.100C>G (p.(His34Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11253671G>C" "" "likely benign" "" "0000343204" "0" "50" "19" "11348355" "11348355" "subst" "0" "02327" "DOCK6_000077" "g.11348355G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11237679G>A" "" "VUS" "" "0000347447" "0" "50" "19" "11313113" "11313113" "subst" "0" "02327" "DOCK6_000076" "g.11313113T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11202437T>C" "" "VUS" "" "0000348455" "0" "50" "19" "11353969" "11353969" "subst" "0" "02327" "DOCK6_000078" "g.11353969G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11243293G>C" "" "VUS" "" "0000565931" "0" "90" "19" "11311390" "11311390" "subst" "0.000209614" "02325" "DOCK6_000013" "g.11311390A>G" "" "" "" "DOCK6(NM_001367830.1):c.6044+2T>C, DOCK6(NM_020812.4):c.5939+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11200714A>G" "" "pathogenic" "" "0000565932" "0" "30" "19" "11311514" "11311514" "subst" "0.000703647" "02330" "DOCK6_000023" "g.11311514G>C" "" "" "" "DOCK6(NM_020812.4):c.5833-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11200838G>C" "" "likely benign" "" "0000565933" "0" "30" "19" "11311581" "11311581" "subst" "0.000378018" "01943" "C19orf80_000001" "g.11311581G>A" "" "" "" "DOCK6(NM_020812.3):c.5832+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11200905G>A" "" "likely benign" "" "0000565934" "0" "10" "19" "11311717" "11311717" "subst" "0.00153082" "01943" "C19orf80_000002" "g.11311717C>T" "" "" "" "DOCK6(NM_020812.3):c.5700G>A (p.T1900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11201041C>T" "" "benign" "" "0000565935" "0" "30" "19" "11314763" "11314763" "subst" "0.000901022" "02330" "DOCK6_000026" "g.11314763G>T" "" "" "" "DOCK6(NM_001367830.1):c.5334C>A (p.G1778=), DOCK6(NM_020812.4):c.5229C>A (p.G1743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11204087G>T" "" "likely benign" "" "0000565936" "0" "30" "19" "11319354" "11319354" "subst" "0.000433031" "01943" "C19orf80_000003" "g.11319354G>C" "" "" "" "DOCK6(NM_020812.3):c.5088+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11208678G>C" "" "likely benign" "" "0000565938" "0" "10" "19" "11319598" "11319598" "subst" "0.00143078" "01943" "C19orf80_000005" "g.11319598C>T" "" "" "" "DOCK6(NM_020812.3):c.4933G>A (p.V1645I, p.(Val1645Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11208922C>T" "" "benign" "" "0000565939" "0" "30" "19" "11319598" "11319598" "subst" "0.00143078" "01804" "C19orf80_000005" "g.11319598C>T" "" "" "" "DOCK6(NM_020812.3):c.4933G>A (p.V1645I, p.(Val1645Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11208922C>T" "" "likely benign" "" "0000565940" "0" "30" "19" "11319636" "11319636" "subst" "0.0394325" "01804" "DOCK6_000044" "g.11319636G>A" "" "" "" "DOCK6(NM_020812.3):c.4895C>T (p.(Ala1632Val)), DOCK6(NM_020812.4):c.4895C>T (p.A1632V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11208960G>A" "" "likely benign" "" "0000565941" "0" "30" "19" "11319662" "11319662" "subst" "0.000230448" "01943" "C19orf80_000006" "g.11319662C>T" "" "" "" "DOCK6(NM_020812.3):c.4869G>A (p.A1623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11208986C>T" "" "likely benign" "" "0000565942" "0" "30" "19" "11319669" "11319669" "subst" "0.00207553" "01943" "DOCK6_000045" "g.11319669A>G" "" "" "" "DOCK6(NM_020812.3):c.4862T>C (p.V1621A, p.(Val1621Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11208993A>G" "" "likely benign" "" "0000565943" "0" "30" "19" "11322726" "11322726" "subst" "0.000295415" "01943" "C19orf80_000007" "g.11322726G>T" "" "" "" "DOCK6(NM_020812.3):c.4593C>A (p.T1531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11212050G>T" "" "likely benign" "" "0000565944" "0" "10" "19" "11322771" "11322771" "subst" "0.00018859" "02330" "C19orf80_000008" "g.11322771C>T" "" "" "" "DOCK6(NM_020812.4):c.4548G>A (p.T1516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11212095C>T" "" "benign" "" "0000565945" "0" "50" "19" "11323874" "11323874" "subst" "0.000175463" "01804" "C19orf80_000009" "g.11323874C>T" "" "" "" "DOCK6(NM_020812.3):c.4469G>A (p.(Arg1490Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11213198C>T" "" "VUS" "" "0000565948" "0" "50" "19" "11324000" "11324000" "subst" "0.000103587" "01804" "C19orf80_000012" "g.11324000G>A" "" "" "" "DOCK6(NM_001367830.1):c.4448C>T (p.P1483L), DOCK6(NM_020812.4):c.4343C>T (p.(Pro1448Leu), p.P1448L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11213324G>A" "" "VUS" "" "0000565949" "0" "10" "19" "11324965" "11324965" "subst" "0.0521919" "02330" "C19orf80_000013" "g.11324965C>T" "" "" "" "DOCK6(NM_020812.4):c.4324G>A (p.A1442T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11214289C>T" "" "benign" "" "0000565950" "0" "30" "19" "11325031" "11325031" "subst" "0.0027471" "01804" "C19orf80_000014" "g.11325031C>G" "" "" "" "DOCK6(NM_020812.3):c.4258G>C (p.(Val1420Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11214355C>G" "" "likely benign" "" "0000565951" "0" "10" "19" "11325036" "11325036" "subst" "0.00295822" "01943" "DOCK6_000051" "g.11325036T>C" "" "" "" "DOCK6(NM_020812.3):c.4253A>G (p.K1418R, p.(Lys1418Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11214360T>C" "" "benign" "" "0000565952" "0" "50" "19" "11325073" "11325073" "subst" "0.000195" "01943" "C19orf80_000015" "g.11325073A>C" "" "" "" "DOCK6(NM_020812.3):c.4216T>G (p.S1406A, p.(Ser1406Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11214397A>C" "" "VUS" "" "0000565953" "0" "30" "19" "11325073" "11325073" "subst" "0.000195" "01804" "C19orf80_000015" "g.11325073A>C" "" "" "" "DOCK6(NM_020812.3):c.4216T>G (p.S1406A, p.(Ser1406Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11214397A>C" "" "likely benign" "" "0000565954" "0" "10" "19" "11325084" "11325084" "subst" "0.000999504" "01943" "C19orf80_000016" "g.11325084G>A" "" "" "" "DOCK6(NM_020812.3):c.4205C>T (p.T1402M, p.(Thr1402Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11214408G>A" "" "benign" "" "0000565955" "0" "30" "19" "11325084" "11325084" "subst" "0.000999504" "01804" "C19orf80_000016" "g.11325084G>A" "" "" "" "DOCK6(NM_020812.3):c.4205C>T (p.T1402M, p.(Thr1402Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11214408G>A" "" "likely benign" "" "0000565956" "0" "30" "19" "11325229" "11325229" "subst" "0.0108665" "01804" "C19orf80_000017" "g.11325229C>T" "" "" "" "DOCK6(NM_020812.3):c.4203G>A (p.(Gln1401=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11214553C>T" "" "likely benign" "" "0000565957" "0" "30" "19" "11325235" "11325235" "subst" "0.0010521" "01943" "C19orf80_000018" "g.11325235G>A" "" "" "" "DOCK6(NM_020812.3):c.4197C>T (p.I1399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11214559G>A" "" "likely benign" "" "0000565958" "0" "30" "19" "11326585" "11326585" "subst" "0.008577" "01804" "DOCK6_000029" "g.11326585G>A" "" "" "" "DOCK6(NM_020812.3):c.3913C>T (p.(Arg1305Cys)), DOCK6(NM_020812.4):c.3913C>T (p.R1305C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11215909G>A" "" "likely benign" "" "0000565959" "0" "10" "19" "11327571" "11327571" "subst" "0.405104" "02330" "C19orf80_000019" "g.11327571C>T" "" "" "" "DOCK6(NM_020812.4):c.3894+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11216895C>T" "" "benign" "" "0000565960" "0" "10" "19" "11327571" "11327571" "subst" "0.405104" "02325" "C19orf80_000019" "g.11327571C>T" "" "" "" "DOCK6(NM_020812.4):c.3894+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11216895C>T" "" "benign" "" "0000565961" "0" "10" "19" "11327608" "11327608" "subst" "0.645684" "02330" "C19orf80_000020" "g.11327608T>C" "" "" "" "DOCK6(NM_020812.4):c.3876A>G (p.L1292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11216932T>C" "" "benign" "" "0000565962" "0" "10" "19" "11327608" "11327608" "subst" "0.645684" "02325" "C19orf80_000020" "g.11327608T>C" "" "" "" "DOCK6(NM_020812.4):c.3876A>G (p.L1292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11216932T>C" "" "benign" "" "0000565963" "0" "50" "19" "11327732" "11327732" "subst" "0.000627465" "01943" "C19orf80_000021" "g.11327732C>T" "" "" "" "DOCK6(NM_020812.3):c.3752G>A (p.R1251Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11217056C>T" "" "VUS" "" "0000565965" "0" "30" "19" "11332551" "11332551" "subst" "0.00204009" "01943" "C19orf80_000023" "g.11332551A>G" "" "" "" "DOCK6(NM_020812.3):c.3526T>C (p.L1176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11221875A>G" "" "likely benign" "" "0000565966" "0" "30" "19" "11332621" "11332621" "subst" "0.000117888" "02330" "C19orf80_000024" "g.11332621G>A" "" "" "" "DOCK6(NM_020812.4):c.3456C>T (p.Y1152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11221945G>A" "" "likely benign" "" "0000565969" "0" "50" "19" "11333460" "11333460" "subst" "0.00012663" "02327" "C19orf80_000026" "g.11333460A>G" "" "" "" "DOCK6(NM_001367830.1):c.3296T>C (p.L1099P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11222784A>G" "" "VUS" "" "0000565970" "0" "90" "19" "11333460" "11333461" "del" "7.63538E-5" "02330" "DOCK6_000005" "g.11333460_11333461del" "" "" "" "DOCK6(NM_020812.3):c.3190_3191del (p.(Leu1064Valfs*60)), DOCK6(NM_020812.4):c.3190_3191delCT (p.L1064Vfs*60)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11222784_11222785del" "" "pathogenic" "" "0000565971" "0" "50" "19" "11333488" "11333488" "subst" "0.00101597" "01804" "C19orf80_000027" "g.11333488C>T" "" "" "" "DOCK6(NM_020812.3):c.3163G>A (p.(Val1055Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11222812C>T" "" "VUS" "" "0000565972" "0" "50" "19" "11333709" "11333709" "subst" "7.31529E-5" "01804" "C19orf80_000028" "g.11333709C>T" "" "" "" "DOCK6(NM_020812.3):c.3029G>A (p.R1010Q, p.(Arg1010Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11223033C>T" "" "VUS" "" "0000565974" "0" "30" "19" "11333787" "11333787" "subst" "0.0287974" "01804" "DOCK6_000060" "g.11333787G>A" "" "" "" "DOCK6(NM_020812.3):c.2956-5C>T (p.?), DOCK6(NM_020812.4):c.2956-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11223111G>A" "" "likely benign" "" "0000565975" "0" "50" "19" "11339692" "11339692" "subst" "0" "01943" "C19orf80_000030" "g.11339692G>T" "" "" "" "DOCK6(NM_020812.3):c.2738C>A (p.A913D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11229016G>T" "" "VUS" "" "0000565978" "0" "50" "19" "11343968" "11343968" "subst" "0.000174741" "02325" "DOCK6_000062" "g.11343968G>A" "" "" "" "DOCK6(NM_020812.3):c.2629C>T (p.(Arg877Cys)), DOCK6(NM_020812.4):c.2629C>T (p.R877C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11233292G>A" "" "VUS" "" "0000565979" "0" "10" "19" "11346278" "11346278" "subst" "0.00236739" "01943" "C19orf80_000033" "g.11346278C>G" "" "" "" "DOCK6(NM_020812.3):c.2550G>C (p.P850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11235602C>G" "" "benign" "" "0000565980" "0" "90" "19" "11346310" "11346310" "dup" "0" "01943" "C19orf80_000034" "g.11346310dup" "" "" "" "DOCK6(NM_020812.3):c.2520dupT (p.R841Sfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11235634dup" "" "pathogenic" "" "0000565981" "0" "30" "19" "11347068" "11347068" "subst" "0.000104208" "01943" "C19orf80_000035" "g.11347068C>T" "" "" "" "DOCK6(NM_020812.3):c.2346G>A (p.K782=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11236392C>T" "" "likely benign" "" "0000565983" "0" "30" "19" "11347455" "11347455" "subst" "0.000617491" "02330" "C19orf80_000037" "g.11347455G>A" "" "" "" "DOCK6(NM_020812.4):c.2160+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11236779G>A" "" "likely benign" "" "0000565984" "0" "10" "19" "11347464" "11347464" "subst" "0.000894037" "01943" "C19orf80_000038" "g.11347464C>T" "" "" "" "DOCK6(NM_020812.3):c.2160+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11236788C>T" "" "benign" "" "0000565986" "0" "50" "19" "11347489" "11347489" "subst" "0.000915991" "01943" "C19orf80_000039" "g.11347489C>T" "" "" "" "DOCK6(NM_020812.3):c.2140G>A (p.V714M, p.(Val714Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11236813C>T" "" "VUS" "" "0000565987" "0" "30" "19" "11348310" "11348310" "subst" "9.67445E-5" "02330" "C19orf80_000040" "g.11348310G>A" "" "" "" "DOCK6(NM_020812.4):c.1971+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11237634G>A" "" "likely benign" "" "0000565988" "0" "30" "19" "11348463" "11348463" "subst" "0.00175477" "02330" "C19orf80_000041" "g.11348463A>T" "" "" "" "DOCK6(NM_020812.3):c.1833-8T>A (p.(=)), DOCK6(NM_020812.4):c.1833-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11237787A>T" "" "likely benign" "" "0000565989" "0" "30" "19" "11348463" "11348463" "subst" "0.00175477" "01804" "C19orf80_000041" "g.11348463A>T" "" "" "" "DOCK6(NM_020812.3):c.1833-8T>A (p.(=)), DOCK6(NM_020812.4):c.1833-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11237787A>T" "" "likely benign" "" "0000565990" "0" "30" "19" "11348474" "11348474" "subst" "0.0031184" "02330" "DOCK6_000033" "g.11348474G>C" "" "" "" "DOCK6(NM_020812.4):c.1833-19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11237798G>C" "" "likely benign" "" "0000565991" "0" "50" "19" "11353770" "11353770" "subst" "2.8437E-5" "02325" "DOCK6_000022" "g.11353770G>A" "" "" "" "DOCK6(NM_020812.3):c.1445C>T (p.(Pro482Leu)), DOCK6(NM_020812.4):c.1445C>T (p.P482L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11243094G>A" "" "VUS" "" "0000565992" "0" "30" "19" "11353994" "11353994" "subst" "0" "01943" "C19orf80_000042" "g.11353994G>A" "" "" "" "DOCK6(NM_020812.3):c.1326C>T (p.D442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11243318G>A" "" "likely benign" "" "0000565993" "0" "30" "19" "11354031" "11354031" "subst" "0.00305176" "02330" "DOCK6_000020" "g.11354031C>T" "" "" "" "DOCK6(NM_020812.3):c.1289G>A (p.R430H, p.(Arg430His)), DOCK6(NM_020812.4):c.1289G>A (p.R430H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11243355C>T" "" "likely benign" "" "0000565994" "0" "30" "19" "11354031" "11354031" "subst" "0.00305176" "01943" "DOCK6_000020" "g.11354031C>T" "" "" "" "DOCK6(NM_020812.3):c.1289G>A (p.R430H, p.(Arg430His)), DOCK6(NM_020812.4):c.1289G>A (p.R430H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11243355C>T" "" "likely benign" "" "0000565995" "0" "30" "19" "11356356" "11356356" "subst" "0.00153891" "01943" "C19orf80_000043" "g.11356356C>G" "" "" "" "DOCK6(NM_001367830.1):c.906G>C (p.S302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11245680C>G" "" "likely benign" "" "0000565996" "0" "30" "19" "11356377" "11356377" "subst" "0.00624746" "02330" "DOCK6_000019" "g.11356377G>A" "" "" "" "DOCK6(NM_020812.4):c.885C>T (p.N295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11245701G>A" "" "likely benign" "" "0000565997" "0" "30" "19" "11361749" "11361749" "subst" "1.66783E-5" "01804" "C19orf80_000044" "g.11361749C>T" "" "" "" "DOCK6(NM_020812.3):c.521G>A (p.(Arg174His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11251073C>T" "" "likely benign" "" "0000565999" "0" "30" "19" "11362861" "11362861" "subst" "0.0119565" "01804" "C19orf80_000046" "g.11362861C>G" "" "" "" "DOCK6(NM_001367830.1):c.441G>C (p.K147N), DOCK6(NM_020812.3):c.441G>C (p.(Lys147Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11252185C>G" "" "likely benign" "" "0000566000" "0" "10" "19" "11362868" "11362868" "subst" "0.00107548" "01943" "C19orf80_000047" "g.11362868C>T" "" "" "" "DOCK6(NM_020812.3):c.434G>A (p.R145Q, p.(Arg145Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11252192C>T" "" "benign" "" "0000566001" "0" "30" "19" "11362868" "11362868" "subst" "0.00107548" "01804" "C19orf80_000047" "g.11362868C>T" "" "" "" "DOCK6(NM_020812.3):c.434G>A (p.R145Q, p.(Arg145Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11252192C>T" "" "likely benign" "" "0000566002" "0" "30" "19" "11363634" "11363634" "subst" "0.00173849" "01804" "C19orf80_000048" "g.11363634C>T" "" "" "" "DOCK6(NM_001367830.1):c.133G>A (p.V45I), DOCK6(NM_020812.3):c.133G>A (p.(Val45Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11252958C>T" "" "likely benign" "" "0000566003" "0" "30" "19" "11364347" "11364347" "subst" "5.51377E-5" "01804" "C19orf80_000049" "g.11364347G>T" "" "" "" "DOCK6(NM_020812.3):c.100C>A (p.(His34Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11253671G>T" "" "likely benign" "" "0000566005" "0" "30" "19" "11373079" "11373079" "subst" "0.000148154" "01804" "C19orf80_000051" "g.11373079A>G" "" "" "" "DOCK6(NM_020812.3):c.38T>C (p.I13T, p.(Ile13Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11262403A>G" "" "likely benign" "" "0000617343" "0" "50" "19" "11327997" "11327997" "subst" "2.8588E-5" "01943" "C19orf80_000052" "g.11327997C>T" "" "" "" "DOCK6(NM_020812.3):c.3621G>A (p.A1207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11217321C>T" "" "VUS" "" "0000617344" "0" "30" "19" "11332560" "11332560" "subst" "0.00229639" "02330" "DOCK6_000057" "g.11332560G>A" "" "" "" "DOCK6(NM_020812.3):c.3517C>T (p.R1173W, p.(Arg1173Trp)), DOCK6(NM_020812.4):c.3517C>T (p.R1173W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11221884G>A" "" "likely benign" "" "0000617345" "0" "30" "19" "11332560" "11332560" "subst" "0.00229639" "02326" "DOCK6_000057" "g.11332560G>A" "" "" "" "DOCK6(NM_020812.3):c.3517C>T (p.R1173W, p.(Arg1173Trp)), DOCK6(NM_020812.4):c.3517C>T (p.R1173W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11221884G>A" "" "likely benign" "" "0000617346" "0" "90" "19" "11333460" "11333461" "del" "7.63538E-5" "01804" "DOCK6_000005" "g.11333460_11333461del" "" "" "" "DOCK6(NM_020812.3):c.3190_3191del (p.(Leu1064Valfs*60)), DOCK6(NM_020812.4):c.3190_3191delCT (p.L1064Vfs*60)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11222784_11222785del" "" "pathogenic" "" "0000649888" "1" "50" "19" "11319669" "11319669" "subst" "0.00207553" "03575" "DOCK6_000045" "g.11319669A>G" "25/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "25 heterozygous, no homozygous; {DB:CLININrs201738818}" "Germline" "" "rs201738818" "0" "" "" "g.11208993A>G" "" "VUS" "" "0000649889" "1" "30" "19" "11325084" "11325084" "subst" "0.000999504" "03575" "C19orf80_000016" "g.11325084G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs147554257}" "Germline" "" "rs147554257" "0" "" "" "g.11214408G>A" "" "likely benign" "" "0000649890" "1" "50" "19" "11332560" "11332560" "subst" "0.00229639" "03575" "DOCK6_000057" "g.11332560G>A" "21/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "21 heterozygous, no homozygous; {DB:CLININrs145081732}" "Germline" "" "rs145081732" "0" "" "" "g.11221884G>A" "" "VUS" "" "0000658473" "0" "30" "19" "11305178" "11305178" "subst" "0.00307111" "02325" "C19orf80_000053" "g.11305178C>T" "" "" "" "KANK2(NM_001136191.2):c.10G>A (p.V4I), KANK2(NM_001136191.3):c.10G>A (p.V4I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11194502C>T" "" "likely benign" "" "0000658474" "0" "50" "19" "11333709" "11333709" "subst" "7.31529E-5" "01943" "C19orf80_000028" "g.11333709C>T" "" "" "" "DOCK6(NM_020812.3):c.3029G>A (p.R1010Q, p.(Arg1010Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11223033C>T" "" "VUS" "" "0000658475" "0" "30" "19" "11362809" "11362809" "subst" "6.91597E-5" "01943" "C19orf80_000054" "g.11362809C>T" "" "" "" "DOCK6(NM_020812.3):c.493G>A (p.G165S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11252133C>T" "" "likely benign" "" "0000667940" "21" "70" "19" "11323851" "11323851" "subst" "4.09072E-6" "03651" "DOCK6_000079" "g.11323851C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.11213175C>A" "" "pathogenic (recessive)" "" "0000667941" "11" "90" "19" "11333465" "11333465" "del" "0" "03651" "DOCK6_000080" "g.11333465del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.11222789del" "" "pathogenic (recessive)" "" "0000681265" "0" "50" "19" "11312632" "11312632" "subst" "0" "01804" "C19orf80_000055" "g.11312632G>C" "" "" "" "DOCK6(NM_020812.3):c.5621C>G (p.(Thr1874Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681266" "0" "90" "19" "11312733" "11312733" "subst" "0" "02325" "C19orf80_000056" "g.11312733G>T" "" "" "" "DOCK6(NM_020812.4):c.5520C>A (p.Y1840*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000681267" "0" "50" "19" "11314750" "11314756" "del" "6.74427E-6" "01804" "C19orf80_000057" "g.11314750_11314756del" "" "" "" "DOCK6(NM_020812.3):c.5235+1_5235+7del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681268" "0" "30" "19" "11319689" "11319689" "subst" "0.000290098" "01943" "C19orf80_000058" "g.11319689G>A" "" "" "" "DOCK6(NM_020812.3):c.4842C>T (p.A1614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681269" "0" "90" "19" "11322451" "11322451" "subst" "0" "02325" "DOCK6_000047" "g.11322451C>T" "" "" "" "DOCK6(NM_020812.4):c.4751+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000681270" "0" "50" "19" "11322471" "11322471" "subst" "9.20459E-5" "01943" "DOCK6_000028" "g.11322471G>A" "" "" "" "DOCK6(NM_001367830.1):c.4837C>T (p.L1613F), DOCK6(NM_020812.3):c.4732C>T (p.(Leu1578Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681271" "0" "50" "19" "11322769" "11322769" "subst" "4.51138E-5" "01943" "DOCK6_000048" "g.11322769G>A" "" "" "" "DOCK6(NM_001367830.1):c.4655C>T (p.T1552M), DOCK6(NM_020812.3):c.4550C>T (p.(Thr1517Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681272" "0" "50" "19" "11324000" "11324000" "subst" "0.000103587" "02325" "C19orf80_000012" "g.11324000G>A" "" "" "" "DOCK6(NM_001367830.1):c.4448C>T (p.P1483L), DOCK6(NM_020812.4):c.4343C>T (p.(Pro1448Leu), p.P1448L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681273" "0" "50" "19" "11348755" "11348755" "subst" "0.000333011" "01943" "C19orf80_000059" "g.11348755G>A" "" "" "" "DOCK6(NM_020812.3):c.1798C>T (p.R600C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692674" "0" "50" "19" "11332854" "11332854" "subst" "0.00011436" "01943" "C19orf80_000025" "g.11332854C>T" "" "" "" "DOCK6(NM_020812.3):c.3311G>A (p.R1104Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727104" "0" "30" "19" "11305178" "11305178" "subst" "0.00307111" "02326" "C19orf80_000053" "g.11305178C>T" "" "" "" "KANK2(NM_001136191.2):c.10G>A (p.V4I), KANK2(NM_001136191.3):c.10G>A (p.V4I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727105" "0" "30" "19" "11311386" "11311386" "subst" "0.00156988" "01943" "DOCK6_000036" "g.11311386G>A" "" "" "" "DOCK6(NM_020812.3):c.5939+6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727106" "0" "30" "19" "11314763" "11314763" "subst" "0.000901022" "01943" "DOCK6_000026" "g.11314763G>T" "" "" "" "DOCK6(NM_001367830.1):c.5334C>A (p.G1778=), DOCK6(NM_020812.4):c.5229C>A (p.G1743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727107" "0" "90" "19" "11323941" "11323941" "subst" "8.15056E-6" "02329" "C19orf80_000011" "g.11323941G>A" "" "" "" "DOCK6(NM_020812.4):c.4402C>T (p.R1468*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727108" "0" "50" "19" "11324000" "11324000" "subst" "0.000103587" "01943" "C19orf80_000012" "g.11324000G>A" "" "" "" "DOCK6(NM_001367830.1):c.4448C>T (p.P1483L), DOCK6(NM_020812.4):c.4343C>T (p.(Pro1448Leu), p.P1448L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727109" "0" "50" "19" "11333460" "11333460" "subst" "0.00012663" "02329" "C19orf80_000026" "g.11333460A>G" "" "" "" "DOCK6(NM_001367830.1):c.3296T>C (p.L1099P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727110" "0" "50" "19" "11343874" "11343874" "subst" "2.4531E-5" "02329" "C19orf80_000031" "g.11343874C>G" "" "" "" "DOCK6(NM_020812.4):c.2718+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727111" "0" "30" "19" "11347525" "11347525" "subst" "0.002896" "01804" "DOCK6_000032" "g.11347525C>T" "" "" "" "DOCK6(NM_020812.3):c.2104G>A (p.(Gly702Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727112" "0" "30" "19" "11353833" "11353833" "subst" "0.000349582" "02325" "C19orf80_000060" "g.11353833A>G" "" "" "" "DOCK6(NM_020812.3):c.1387-5T>C (p.?), DOCK6(NM_020812.4):c.1387-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727113" "0" "50" "19" "11363634" "11363634" "subst" "0.00173849" "01943" "C19orf80_000048" "g.11363634C>T" "" "" "" "DOCK6(NM_001367830.1):c.133G>A (p.V45I), DOCK6(NM_020812.3):c.133G>A (p.(Val45Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729902" "3" "90" "19" "11313367" "11313367" "subst" "0" "00000" "DOCK6_000081" "g.11313367A>G" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_020812.3:c.5254T>C:p.(Phe1752Leu)" "" "Germline" "" "" "0" "" "" "g.11202691A>G" "" "likely pathogenic (recessive)" "" "0000729903" "3" "90" "19" "11353957" "11353960" "del" "0" "00000" "DOCK6_000001" "g.11353957_11353960del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_020812.2:c.1362_1365delAACT:p.(Thr455Serfs*24)" "" "Germline" "" "" "0" "" "" "g.11243281_11243284del" "" "pathogenic (recessive)" "" "0000729904" "3" "90" "19" "11346310" "11346310" "dup" "0" "00000" "DOCK6_000003" "g.11346310dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_020812.3:c.2520dupT:p.(Arg841Serfs*6)" "" "Germline" "" "" "0" "" "" "g.11235634dup" "" "pathogenic (recessive)" "" "0000808652" "0" "50" "19" "11319772" "11319772" "subst" "0" "01943" "C19orf80_000061" "g.11319772G>A" "" "" "" "DOCK6(NM_020812.3):c.4759C>T (p.R1587W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808653" "0" "50" "19" "11327673" "11327673" "subst" "5.28468E-5" "01943" "C19orf80_000062" "g.11327673G>A" "" "" "" "DOCK6(NM_001367830.1):c.3916C>T (p.R1306C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808654" "0" "30" "19" "11347489" "11347489" "subst" "0.000915991" "01804" "C19orf80_000039" "g.11347489C>T" "" "" "" "DOCK6(NM_020812.3):c.2140G>A (p.V714M, p.(Val714Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808655" "0" "50" "19" "11354541" "11354541" "subst" "4.13918E-6" "01804" "C19orf80_000063" "g.11354541C>G" "" "" "" "DOCK6(NM_020812.3):c.1041G>C (p.(Gln347His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000823725" "11" "50" "19" "11332625" "11332625" "subst" "1.21962E-5" "02494" "DOCK6_000082" "g.11332625C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000823726" "21" "50" "19" "11353962" "11353962" "subst" "8.24753E-5" "02494" "DOCK6_000021" "g.11353962G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000830792" "0" "50" "19" "11312756" "11312756" "subst" "1.62456E-5" "00006" "DOCK6_000083" "g.11312756C>T" "" "{PMID:Gu 2018:29901142}" "" "" "" "Germline" "" "" "0" "" "" "g.11202080C>T" "" "VUS" "" "0000830793" "0" "50" "19" "11326489" "11326489" "subst" "1.21832E-5" "00006" "DOCK6_000084" "g.11326489G>A" "" "{PMID:Gu 2018:29901142}" "" "" "" "Germline" "" "" "0" "" "" "g.11215813G>A" "" "VUS" "" "0000830794" "0" "50" "19" "11348906" "11348906" "subst" "0.000109699" "00006" "DOCK6_000085" "g.11348906C>T" "" "{PMID:Gu 2018:29901142}" "" "" "" "Germline" "" "" "0" "" "" "g.11238230C>T" "" "VUS" "" "0000855427" "0" "70" "19" "11311390" "11311390" "subst" "0.000209614" "01943" "DOCK6_000013" "g.11311390A>G" "" "" "" "DOCK6(NM_001367830.1):c.6044+2T>C, DOCK6(NM_020812.4):c.5939+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000855428" "0" "30" "19" "11327686" "11327686" "subst" "0.000182949" "01943" "C19orf80_000066" "g.11327686C>T" "" "" "" "DOCK6(NM_020812.3):c.3798G>A (p.P1266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855429" "0" "30" "19" "11339664" "11339664" "subst" "0.000577842" "01943" "C19orf80_000069" "g.11339664G>A" "" "" "" "DOCK6(NM_020812.3):c.2766C>T (p.A922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855430" "0" "30" "19" "11346323" "11346323" "subst" "0.000473112" "01943" "C19orf80_000070" "g.11346323G>A" "" "" "" "DOCK6(NM_020812.3):c.2505C>T (p.Y835=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855431" "0" "30" "19" "11362861" "11362861" "subst" "0.0119565" "02330" "C19orf80_000046" "g.11362861C>G" "" "" "" "DOCK6(NM_001367830.1):c.441G>C (p.K147N), DOCK6(NM_020812.3):c.441G>C (p.(Lys147Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865840" "0" "30" "19" "11311656" "11311656" "subst" "0" "01804" "C19orf80_000064" "g.11311656C>T" "" "" "" "DOCK6(NM_020812.3):c.5761G>A (p.(Glu1921Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865841" "0" "50" "19" "11311727" "11311727" "subst" "5.70841E-5" "01943" "C19orf80_000065" "g.11311727G>A" "" "" "" "DOCK6(NM_020812.3):c.5690C>T (p.T1897M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865842" "0" "50" "19" "11327935" "11327935" "subst" "3.69613E-5" "01943" "C19orf80_000067" "g.11327935C>T" "" "" "" "DOCK6(NM_020812.3):c.3683G>A (p.R1228Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865843" "0" "50" "19" "11333410" "11333410" "subst" "0" "01804" "C19orf80_000068" "g.11333410C>A" "" "" "" "DOCK6(NM_020812.3):c.3240+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865844" "0" "50" "19" "11348212" "11348212" "subst" "0.00164546" "01943" "C19orf80_000071" "g.11348212C>T" "" "" "" "DOCK6(NM_020812.3):c.1993G>A (p.G665R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865845" "0" "50" "19" "11348936" "11348936" "subst" "1.22397E-5" "01943" "C19orf80_000072" "g.11348936C>T" "" "" "" "DOCK6(NM_020812.3):c.1688G>A (p.R563H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865846" "0" "30" "19" "11361543" "11361543" "del" "4.12307E-6" "01943" "C19orf80_000073" "g.11361543del" "" "" "" "DOCK6(NM_001367830.1):c.720+7delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865847" "0" "30" "19" "11373079" "11373079" "subst" "0.000148154" "01943" "C19orf80_000051" "g.11373079A>G" "" "" "" "DOCK6(NM_020812.3):c.38T>C (p.I13T, p.(Ile13Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000878246" "11" "90" "19" "11346274" "11354558" "del" "0" "04382" "DOCK6_000086" "g.(?_11346274)_(11354558_?)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.(?_11235598)_(11243882_?)del" "" "likely pathogenic (recessive)" "ACMG" "0000894754" "0" "50" "19" "11311023" "11311023" "subst" "0" "01804" "C19orf80_000074" "g.11311023C>T" "" "" "" "DOCK6(NM_020812.3):c.6062G>A (p.(Arg2021His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894755" "0" "30" "19" "11311588" "11311588" "subst" "0" "01804" "C19orf80_000075" "g.11311588G>T" "" "" "" "DOCK6(NM_020812.3):c.5829C>A (p.(Asn1943Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894756" "0" "50" "19" "11327938" "11327938" "subst" "8.19995E-6" "02325" "C19orf80_000022" "g.11327938G>T" "" "" "" "DOCK6(NM_020812.4):c.3680C>A (p.S1227Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894757" "0" "30" "19" "11353833" "11353833" "subst" "0.000349582" "01804" "C19orf80_000060" "g.11353833A>G" "" "" "" "DOCK6(NM_020812.3):c.1387-5T>C (p.?), DOCK6(NM_020812.4):c.1387-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894758" "0" "30" "19" "11363475" "11363475" "subst" "2.46049E-5" "01804" "DOCK6_000074" "g.11363475C>T" "" "" "" "DOCK6(NM_020812.3):c.292G>A (p.(Gly98Arg)), DOCK6(NM_020812.4):c.292G>A (p.G98R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894759" "0" "50" "19" "11364335" "11364335" "subst" "0" "01804" "C19orf80_000076" "g.11364335G>A" "" "" "" "DOCK6(NM_020812.3):c.112C>T (p.(Arg38Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926801" "0" "50" "19" "11343970" "11343970" "subst" "2.03212E-5" "01804" "C19orf80_000077" "g.11343970G>A" "" "" "" "DOCK6(NM_020812.3):c.2627C>T (p.(Ala876Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926802" "0" "30" "19" "11346352" "11346352" "subst" "0.000602469" "01804" "C19orf80_000078" "g.11346352G>A" "" "" "" "DOCK6(NM_020812.3):c.2476C>T (p.(Arg826Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926803" "0" "30" "19" "11361618" "11361618" "subst" "6.51338E-5" "01804" "C19orf80_000079" "g.11361618G>A" "" "" "" "DOCK6(NM_020812.3):c.652C>T (p.(Arg218Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930994" "0" "30" "19" "11363171" "11363171" "subst" "0" "01804" "C19orf80_000080" "g.11363171T>C" "" "" "" "DOCK6(NM_020812.3):c.364A>G (p.(Ile122Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951200" "0" "90" "19" "11305191" "11305193" "del" "0" "02326" "C19orf80_000081" "g.11305191_11305193del" "" "" "" "KANK2(NM_001136191.2):c.-2_1delAGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951201" "0" "50" "19" "11326115" "11326115" "subst" "0" "01804" "C19orf80_000082" "g.11326115G>A" "" "" "" "DOCK6(NM_020812.3):c.4054C>T (p.(Arg1352Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000957538" "20" "70" "19" "11319745" "11319745" "subst" "0" "04614" "DOCK6_000010" "g.11319745G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.11209069G>A" "" "likely pathogenic (recessive)" "ACMG" "0000957539" "10" "70" "19" "11356382" "11356382" "subst" "8.48724E-6" "04614" "DOCK6_000087" "g.11356382C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.11245706C>G" "" "likely pathogenic (recessive)" "ACMG" "0000969532" "0" "30" "19" "11322772" "11322772" "subst" "0.000291043" "02325" "DOCK6_000049" "g.11322772G>A" "" "" "" "DOCK6(NM_020812.3):c.4547C>T (p.(Thr1516Met)), DOCK6(NM_020812.4):c.4547C>T (p.T1516M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969534" "0" "30" "19" "11339635" "11339635" "subst" "0.000296866" "02325" "DOCK6_000061" "g.11339635C>G" "" "" "" "DOCK6(NM_020812.3):c.2795G>C (p.(Trp932Ser)), DOCK6(NM_020812.4):c.2795G>C (p.W932S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969536" "0" "30" "19" "11348985" "11348985" "subst" "0.000378761" "02325" "C19orf80_000084" "g.11348985G>C" "" "" "" "DOCK6(NM_020812.4):c.1644-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969537" "0" "50" "19" "11363613" "11363613" "subst" "6.34534E-5" "01804" "C19orf80_000085" "g.11363613C>T" "" "" "" "DOCK6(NM_020812.3):c.154G>A (p.(Glu52Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983178" "0" "30" "19" "11306494" "11306494" "subst" "0" "01804" "C19orf80_000086" "g.11306494C>A" "" "" "" "KANK2(NM_001136191.3):c.-276G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983179" "0" "30" "19" "11312556" "11312556" "subst" "0.00123363" "01804" "DOCK6_000024" "g.11312556C>G" "" "" "" "DOCK6(NM_020812.4):c.5688+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983180" "0" "50" "19" "11313384" "11313384" "subst" "1.62684E-5" "01804" "C19orf80_000087" "g.11313384C>T" "" "" "" "DOCK6(NM_020812.4):c.5237G>A (p.(Arg1746His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983181" "0" "50" "19" "11325273" "11325273" "subst" "1.62506E-5" "01804" "C19orf80_000088" "g.11325273C>T" "" "" "" "DOCK6(NM_020812.4):c.4159G>A (p.(Glu1387Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983182" "0" "30" "19" "11327581" "11327581" "subst" "1.6255E-5" "01804" "C19orf80_000089" "g.11327581C>T" "" "" "" "DOCK6(NM_020812.4):c.3894+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983183" "0" "50" "19" "11343874" "11343874" "subst" "2.4531E-5" "01804" "C19orf80_000031" "g.11343874C>G" "" "" "" "DOCK6(NM_020812.4):c.2718+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983184" "0" "50" "19" "11347190" "11347190" "subst" "0" "01804" "C19orf80_000090" "g.11347190G>A" "" "" "" "DOCK6(NM_020812.4):c.2224C>T (p.(Arg742Trp), p.R742W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983185" "0" "70" "19" "11348720" "11348720" "subst" "5.68657E-5" "01804" "C19orf80_000091" "g.11348720C>T" "" "" "" "DOCK6(NM_020812.4):c.1832+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000983186" "0" "50" "19" "11348886" "11348886" "subst" "1.21867E-5" "01804" "C19orf80_000092" "g.11348886C>T" "" "" "" "DOCK6(NM_020812.4):c.1738G>A (p.(Glu580Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004332" "0" "30" "19" "11310110" "11310110" "subst" "0.000796906" "01804" "C19orf80_000093" "g.11310110G>A" "" "" "" "DOCK6(NM_020812.3):c.*63C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004333" "0" "50" "19" "11312713" "11312713" "subst" "0" "01804" "C19orf80_000094" "g.11312713A>G" "" "" "" "DOCK6(NM_020812.3):c.5540T>C (p.(Leu1847Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004334" "0" "30" "19" "11314922" "11314922" "subst" "3.80945E-5" "01804" "C19orf80_000095" "g.11314922G>A" "" "" "" "DOCK6(NM_020812.3):c.5174C>T (p.(Ala1725Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004335" "0" "30" "19" "11338066" "11338066" "subst" "3.66127E-5" "01804" "C19orf80_000096" "g.11338066T>C" "" "" "" "DOCK6(NM_020812.3):c.2902A>G (p.(Ile968Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004336" "0" "30" "19" "11344019" "11344019" "subst" "0" "01804" "C19orf80_000097" "g.11344019C>A" "" "" "" "DOCK6(NM_020812.3):c.2578G>T (p.(Ala860Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004337" "0" "30" "19" "11346400" "11346400" "subst" "0" "01804" "C19orf80_000098" "g.11346400G>C" "" "" "" "DOCK6(NM_020812.3):c.2428C>G (p.(His810Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004338" "0" "30" "19" "11347536" "11347536" "subst" "0.000241776" "01804" "C19orf80_000099" "g.11347536C>T" "" "" "" "DOCK6(NM_020812.3):c.2093G>A (p.(Arg698His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004339" "0" "30" "19" "11352716" "11352716" "subst" "0.00123083" "01804" "C19orf80_000100" "g.11352716C>T" "" "" "" "DOCK6(NM_020812.3):c.1643+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004340" "0" "30" "19" "11361620" "11361620" "subst" "0.000643123" "01804" "C19orf80_000101" "g.11361620C>T" "" "" "" "DOCK6(NM_020812.3):c.650G>A (p.(Arg217Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007512" "0" "70" "19" "11353770" "11353770" "subst" "2.8437E-5" "00006" "DOCK6_000022" "g.11353770G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs557547319" "0" "" "" "g.11243094G>A" "" "VUS" "" "0001007541" "0" "70" "19" "11346314" "11346314" "subst" "0" "00006" "DOCK6_000088" "g.11346314G>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_020812.4:c.2514G>T" "" "Germline" "" "" "0" "" "" "g.11235638G>T" "" "VUS" "" "0001015737" "0" "50" "19" "11347190" "11347190" "subst" "0" "02325" "C19orf80_000090" "g.11347190G>A" "" "" "" "DOCK6(NM_020812.4):c.2224C>T (p.(Arg742Trp), p.R742W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015738" "0" "50" "19" "11356501" "11356501" "subst" "4.93161E-5" "02325" "C19orf80_000102" "g.11356501C>T" "" "" "" "DOCK6(NM_020812.4):c.860G>A (p.R287Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042586" "0" "90" "19" "11311390" "11311390" "subst" "0.000209614" "01804" "DOCK6_000013" "g.11311390A>G" "" "" "" "DOCK6(NM_001367830.1):c.6044+2T>C, DOCK6(NM_020812.4):c.5939+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001042587" "0" "50" "19" "11311438" "11311438" "subst" "1.22093E-5" "01804" "C19orf80_000103" "g.11311438G>A" "" "" "" "DOCK6(NM_020812.4):c.5893C>T (p.(Arg1965Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042588" "0" "50" "19" "11312638" "11312638" "subst" "1.63393E-5" "01804" "C19orf80_000104" "g.11312638C>T" "" "" "" "DOCK6(NM_020812.4):c.5615G>A (p.(Arg1872His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042589" "0" "50" "19" "11313289" "11313289" "subst" "0" "01804" "C19orf80_000105" "g.11313289T>G" "" "" "" "DOCK6(NM_020812.4):c.5332A>C (p.(Lys1778Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042590" "0" "50" "19" "11322531" "11322531" "subst" "0" "01804" "C19orf80_000106" "g.11322531G>C" "" "" "" "DOCK6(NM_020812.4):c.4672C>G (p.(Leu1558Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042591" "0" "50" "19" "11325231" "11325236" "del" "0" "01804" "C19orf80_000107" "g.11325231_11325236del" "" "" "" "DOCK6(NM_020812.4):c.4196_4201del (p.(Ile1399_Gln1401delinsLys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042592" "0" "50" "19" "11327636" "11327636" "subst" "0.000154382" "01804" "C19orf80_000108" "g.11327636C>T" "" "" "" "DOCK6(NM_020812.4):c.3848G>A (p.(Arg1283His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042593" "0" "50" "19" "11328012" "11328017" "del" "0" "01804" "C19orf80_000109" "g.11328012_11328017del" "" "" "" "DOCK6(NM_020812.4):c.3606_3611del (p.(Glu1203_Gly1204del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042594" "0" "70" "19" "11333497" "11333497" "subst" "0" "01804" "DOCK6_000011" "g.11333497C>T" "" "" "" "DOCK6(NM_020812.4):c.3154G>A (p.(Glu1052Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042595" "0" "30" "19" "11348208" "11348208" "subst" "0.00195807" "01804" "C19orf80_000110" "g.11348208C>T" "" "" "" "DOCK6(NM_020812.4):c.1997G>A (p.(Arg666His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042596" "0" "50" "19" "11363489" "11363489" "subst" "2.85868E-5" "01804" "C19orf80_000111" "g.11363489C>T" "" "" "" "DOCK6(NM_020812.4):c.278G>A (p.(Arg93Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042597" "0" "70" "19" "11364314" "11364314" "subst" "0" "01804" "C19orf80_000112" "g.11364314C>A" "" "" "" "DOCK6(NM_020812.4):c.132+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001047516" "3" "70" "19" "11326475" "11326475" "dup" "0" "01164" "DOCK6_000089" "g.11326475dup" "" "" "" "" "ACMG: PVS1-very strong,PM2-supporting,PM3-supporting" "Germline" "?" "" "0" "" "" "g.11215799dup" "VCV001940871.3" "pathogenic (recessive)" "ACMG" ## 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 DOCK6 ## Count = 273 "{{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}}" "0000055901" "00006618" "70" "1362" "0" "1365" "0" "c.1362_1365del" "r.(?)" "p.(Thr455Serfs*24)" "12" "0000055902" "00006618" "70" "1245" "0" "1245" "0" "c.1245dup" "r.(?)" "p.(Asp416*)" "11" "0000055903" "00006618" "70" "2520" "0" "2520" "0" "c.2520dup" "r.(?)" "p.(Arg841Serfs*6)" "21" "0000055904" "00006618" "70" "2520" "0" "2520" "0" "c.2520dup" "r.(?)" "p.(Arg841Serfs*6)" "21" "0000055905" "00006618" "70" "4107" "-1" "4107" "-1" "c.4107-1G>C" "r.4107_4113del" "p.Thr1370Metfs*19" "32i" "0000055906" "00006618" "70" "3190" "0" "3191" "0" "c.3190_3191del" "r.(?)" "p.(Leu1064Valfs*60)" "26" "0000055907" "00006618" "70" "4480" "0" "4480" "0" "c.4480G>T" "r.(?)" "p.(Glu1494*)" "35" "0000055908" "00006618" "70" "3047" "0" "3047" "0" "c.3047T>C" "r.(?)" "p.(Leu1016Pro)" "25" "0000055909" "00006618" "70" "1362" "0" "1365" "0" "c.1362_1365del" "r.(?)" "p.(Thr455Serfs*24)" "12" "0000055910" "00006618" "70" "4491" "1" "4491" "1" "c.4491+1G>A" "r.spl" "p.?" "35i" "0000055911" "00006618" "70" "1296" "0" "1297" "0" "c.1296_1297delinsT" "r.(?)" "p.(Gln434Argfs*21)" "12" "0000055912" "00006618" "70" "4786" "0" "4786" "0" "c.4786C>T" "r.(?)" "p.(Arg1596Trp)" "38" "0000055913" "00006618" "70" "3154" "0" "3154" "0" "c.3154G>A" "r.(?)" "p.(Glu1052Lys)" "26" "0000055914" "00006618" "70" "788" "0" "788" "0" "c.788T>A" "r.(?)" "p.(Val263Asp)" "7" "0000055915" "00006618" "90" "5939" "2" "5939" "2" "c.5939+2T>C" "r.spl?" "p.?" "47i" "0000055916" "00006618" "70" "788" "0" "788" "0" "c.788T>A" "r.(?)" "p.(Val263Asp)" "7" "0000055917" "00006618" "70" "5939" "2" "5939" "2" "c.5939+2T>C" "r.spl?" "p.?" "47i" "0000055918" "00006618" "70" "1902" "0" "1905" "0" "c.1902_1905del" "r.(?)" "p.(Phe635Profs*32)" "17" "0000055919" "00006618" "70" "4106" "5" "4106" "5" "c.4106+5G>T" "r.spl?" "p.?" "32i" "0000055920" "00006618" "70" "1902" "0" "1905" "0" "c.1902_1905del" "r.(?)" "p.(Phe635Profs*32)" "17" "0000055921" "00006618" "70" "4106" "5" "4106" "5" "c.4106+5G>T" "r.spl?" "p.?" "32i" "0000055922" "00006618" "70" "484" "0" "484" "0" "c.484G>T" "r.(?)" "p.(Glu162*)" "5" "0000055923" "00006618" "70" "5235" "205" "6102" "-15" "c.5235+205_6102-15delinsCATGGGCTG" "r.?" "p.?" "41i_47i" "0000055924" "00006618" "70" "2520" "0" "2520" "0" "c.2520dup" "r.(?)" "p.(Arg841Serfs*6)" "21" "0000060661" "00006618" "50" "100" "0" "100" "0" "c.100C>G" "r.(?)" "p.(His34Asp)" "2" "0000060664" "00006618" "70" "1358" "0" "1358" "0" "c.1358C>T" "r.(?)" "p.(Thr453Met)" "12" "0000060665" "00006618" "70" "1445" "0" "1445" "0" "c.1445C>T" "r.(?)" "p.(Pro482Leu)" "13" "0000060666" "00006618" "50" "5833" "-16" "5833" "-16" "c.5833-16C>G" "r.(spl?)" "p.(=)" "45i" "0000060667" "00006618" "50" "2104" "0" "2104" "0" "c.2104G>A" "r.(?)" "p.(Gly702Ser)" "19" "0000060668" "00006618" "50" "2767" "0" "2767" "0" "c.2767G>A" "r.(?)" "p.(Val923Ile)" "23" "0000060669" "00006618" "50" "3873" "0" "3873" "0" "c.3873C>T" "r.(=)" "p.(=)" "30" "0000060670" "00006618" "50" "3913" "0" "3913" "0" "c.3913C>T" "r.(?)" "p.(Arg1305Cys)" "31" "0000060671" "00006618" "70" "4732" "0" "4732" "0" "c.4732C>T" "r.(?)" "p.(Leu1578Phe)" "37" "0000060672" "00006618" "50" "4899" "0" "4899" "0" "c.4899G>A" "r.(=)" "p.(=)" "38" "0000060673" "00006618" "50" "5229" "0" "5229" "0" "c.5229C>A" "r.(=)" "p.(=)" "41" "0000060674" "00006618" "50" "5640" "0" "5640" "0" "c.5640C>T" "r.(=)" "p.(=)" "44" "0000060675" "00006618" "50" "5688" "9" "5688" "9" "c.5688+9G>C" "r.(=)" "p.(=)" "44i" "0000060676" "00006618" "50" "1833" "-19" "1833" "-19" "c.1833-19C>G" "r.(spl?)" "p.(=)" "16i" "0000061672" "00006618" "30" "885" "0" "885" "0" "c.885C>T" "r.(=)" "p.(=)" "9" "0000061673" "00006618" "30" "885" "0" "885" "0" "c.885C>T" "r.(=)" "p.(=)" "9" "0000061674" "00006618" "50" "1289" "0" "1289" "0" "c.1289G>A" "r.(?)" "p.(Arg430His)" "12" "0000247558" "00006618" "10" "4050" "0" "4050" "0" "c.4050T>C" "r.(?)" "p.(Asn1350=)" "" "0000247559" "00006618" "10" "3858" "0" "3858" "0" "c.3858T>C" "r.(?)" "p.(Asp1286=)" "" "0000247565" "00006618" "10" "377" "12" "377" "12" "c.377+12T>A" "r.(=)" "p.(=)" "" "0000247573" "00006618" "10" "1713" "0" "1713" "0" "c.1713T>C" "r.(?)" "p.(Ala571=)" "" "0000248384" "00006618" "10" "4050" "0" "4050" "0" "c.4050T>C" "r.(?)" "p.(Asn1350=)" "" "0000248385" "00006618" "10" "3858" "0" "3858" "0" "c.3858T>C" "r.(?)" "p.(Asp1286=)" "" "0000248453" "00006618" "10" "377" "12" "377" "12" "c.377+12T>A" "r.(=)" "p.(=)" "" "0000248711" "00006618" "10" "5976" "0" "5976" "0" "c.5976T>A" "r.(?)" "p.(Ile1992=)" "" "0000265410" "00006618" "10" "1664" "0" "1664" "0" "c.1664C>T" "r.(?)" "p.(Pro555Leu)" "" "0000265411" "00006618" "10" "2136" "0" "2136" "0" "c.2136A>G" "r.(?)" "p.(Thr712=)" "" "0000265412" "00006618" "30" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Gly98Arg)" "" "0000265413" "00006618" "10" "2956" "-5" "2956" "-5" "c.2956-5C>T" "r.spl?" "p.?" "" "0000265414" "00006618" "10" "3070" "-15" "3070" "-15" "c.3070-15A>G" "r.(=)" "p.(=)" "" "0000265415" "00006618" "10" "3507" "0" "3507" "0" "c.3507A>T" "r.(?)" "p.(Leu1169=)" "" "0000265416" "00006618" "30" "3913" "0" "3913" "0" "c.3913C>T" "r.(?)" "p.(Arg1305Cys)" "" "0000265417" "00006618" "10" "4044" "0" "4044" "0" "c.4044G>A" "r.(?)" "p.(Pro1348=)" "" "0000265418" "00006618" "10" "4344" "0" "4344" "0" "c.4344G>A" "r.(?)" "p.(Pro1448=)" "" "0000265419" "00006618" "10" "4895" "0" "4895" "0" "c.4895C>T" "r.(?)" "p.(Ala1632Val)" "" "0000265420" "00006618" "10" "4959" "0" "4959" "0" "c.4959C>T" "r.(?)" "p.(Asn1653=)" "" "0000265421" "00006618" "10" "5235" "9" "5235" "9" "c.5235+9G>A" "r.(=)" "p.(=)" "" "0000265422" "00006618" "10" "5361" "4" "5361" "4" "c.5361+4C>T" "r.spl?" "p.?" "" "0000265423" "00006618" "10" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Pro250Leu)" "" "0000267487" "00006618" "10" "2956" "-5" "2956" "-5" "c.2956-5C>T" "r.spl?" "p.?" "" "0000267488" "00006618" "10" "3507" "0" "3507" "0" "c.3507A>T" "r.(?)" "p.(Leu1169=)" "" "0000267489" "00006618" "10" "4044" "0" "4044" "0" "c.4044G>A" "r.(?)" "p.(Pro1348=)" "" "0000267490" "00006618" "10" "4895" "0" "4895" "0" "c.4895C>T" "r.(?)" "p.(Ala1632Val)" "" "0000267491" "00006618" "10" "4959" "0" "4959" "0" "c.4959C>T" "r.(?)" "p.(Asn1653=)" "" "0000267492" "00006618" "10" "5361" "4" "5361" "4" "c.5361+4C>T" "r.spl?" "p.?" "" "0000267493" "00006618" "10" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Pro250Leu)" "" "0000268729" "00006618" "90" "4751" "1" "4751" "1" "c.4751+1G>A" "r.spl?" "p.?" "" "0000275464" "00006618" "70" "132" "1" "132" "1" "c.132+1del" "r.spl?" "p.?" "" "0000275465" "00006618" "30" "3517" "0" "3517" "0" "c.3517C>T" "r.(?)" "p.(Arg1173Trp)" "" "0000275466" "00006618" "30" "4344" "0" "4344" "0" "c.4344G>A" "r.(?)" "p.(Pro1448=)" "" "0000275467" "00006618" "30" "5310" "0" "5310" "0" "c.5310G>C" "r.(?)" "p.(Val1770=)" "" "0000326178" "00006618" "30" "5939" "6" "5939" "6" "c.5939+6C>T" "r.(=)" "p.(=)" "" "0000326179" "00006618" "50" "5832" "5" "5832" "5" "c.5832+5G>T" "r.spl?" "p.?" "" "0000326180" "00006618" "50" "5575" "0" "5575" "0" "c.5575G>A" "r.(?)" "p.(Asp1859Asn)" "" "0000326182" "00006618" "30" "4862" "0" "4862" "0" "c.4862T>C" "r.(?)" "p.(Val1621Ala)" "" "0000326183" "00006618" "50" "4822" "0" "4822" "0" "c.4822G>A" "r.(?)" "p.(Ala1608Thr)" "" "0000326184" "00006618" "30" "4732" "0" "4732" "0" "c.4732C>T" "r.(?)" "p.(Leu1578Phe)" "" "0000326185" "00006618" "50" "4550" "0" "4550" "0" "c.4550C>T" "r.(?)" "p.(Thr1517Met)" "" "0000326186" "00006618" "30" "4547" "0" "4547" "0" "c.4547C>T" "r.(?)" "p.(Thr1516Met)" "" "0000326187" "00006618" "30" "4253" "0" "4253" "0" "c.4253A>G" "r.(?)" "p.(Lys1418Arg)" "" "0000326189" "00006618" "30" "3724" "0" "3724" "0" "c.3724G>A" "r.(?)" "p.(Gly1242Ser)" "" "0000326190" "00006618" "30" "3517" "0" "3517" "0" "c.3517C>T" "r.(?)" "p.(Arg1173Trp)" "" "0000326191" "00006618" "50" "2795" "0" "2795" "0" "c.2795G>C" "r.(?)" "p.(Trp932Ser)" "" "0000326192" "00006618" "50" "2629" "0" "2629" "0" "c.2629C>T" "r.(?)" "p.(Arg877Cys)" "" "0000326193" "00006618" "50" "1480" "4" "1480" "4" "c.1480+4C>T" "r.spl?" "p.?" "" "0000326195" "00006618" "50" "1445" "0" "1445" "0" "c.1445C>T" "r.(?)" "p.(Pro482Leu)" "" "0000326196" "00006618" "30" "1289" "0" "1289" "0" "c.1289G>A" "r.(?)" "p.(Arg430His)" "" "0000326197" "00006618" "30" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Cys)" "" "0000326198" "00006618" "50" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Arg249Cys)" "" "0000326199" "00006618" "50" "620" "0" "620" "0" "c.620T>C" "r.(?)" "p.(Leu207Pro)" "" "0000326200" "00006618" "30" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Arg173Trp)" "" "0000326201" "00006618" "50" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "" "0000326202" "00006618" "30" "100" "0" "100" "0" "c.100C>G" "r.(?)" "p.(His34Asp)" "" "0000343204" "00006618" "50" "1933" "0" "1933" "0" "c.1933C>T" "r.(?)" "p.(Arg645Trp)" "" "0000347447" "00006618" "50" "5408" "0" "5408" "0" "c.5408A>G" "r.(?)" "p.(Lys1803Arg)" "" "0000348455" "00006618" "50" "1351" "0" "1351" "0" "c.1351C>G" "r.(?)" "p.(Pro451Ala)" "" "0000565931" "00006618" "90" "5939" "2" "5939" "2" "c.5939+2T>C" "r.spl?" "p.?" "" "0000565932" "00006618" "30" "5833" "-16" "5833" "-16" "c.5833-16C>G" "r.(=)" "p.(=)" "" "0000565933" "00006618" "30" "5832" "4" "5832" "4" "c.5832+4C>T" "r.spl?" "p.?" "" "0000565934" "00006618" "10" "5700" "0" "5700" "0" "c.5700G>A" "r.(?)" "p.(Thr1900=)" "" "0000565935" "00006618" "30" "5229" "0" "5229" "0" "c.5229C>A" "r.(?)" "p.(Gly1743=)" "" "0000565936" "00006618" "30" "5088" "8" "5088" "8" "c.5088+8C>G" "r.(=)" "p.(=)" "" "0000565938" "00006618" "10" "4933" "0" "4933" "0" "c.4933G>A" "r.(?)" "p.(Val1645Ile)" "" "0000565939" "00006618" "30" "4933" "0" "4933" "0" "c.4933G>A" "r.(?)" "p.(Val1645Ile)" "" "0000565940" "00006618" "30" "4895" "0" "4895" "0" "c.4895C>T" "r.(?)" "p.(Ala1632Val)" "" "0000565941" "00006618" "30" "4869" "0" "4869" "0" "c.4869G>A" "r.(?)" "p.(Ala1623=)" "" "0000565942" "00006618" "30" "4862" "0" "4862" "0" "c.4862T>C" "r.(?)" "p.(Val1621Ala)" "" "0000565943" "00006618" "30" "4593" "0" "4593" "0" "c.4593C>A" "r.(?)" "p.(Thr1531=)" "" "0000565944" "00006618" "10" "4548" "0" "4548" "0" "c.4548G>A" "r.(?)" "p.(Thr1516=)" "" "0000565945" "00006618" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Arg1490Gln)" "" "0000565948" "00006618" "50" "4343" "0" "4343" "0" "c.4343C>T" "r.(?)" "p.(Pro1448Leu)" "" "0000565949" "00006618" "10" "4324" "0" "4324" "0" "c.4324G>A" "r.(?)" "p.(Ala1442Thr)" "" "0000565950" "00006618" "30" "4258" "0" "4258" "0" "c.4258G>C" "r.(?)" "p.(Val1420Leu)" "" "0000565951" "00006618" "10" "4253" "0" "4253" "0" "c.4253A>G" "r.(?)" "p.(Lys1418Arg)" "" "0000565952" "00006618" "50" "4216" "0" "4216" "0" "c.4216T>G" "r.(?)" "p.(Ser1406Ala)" "" "0000565953" "00006618" "30" "4216" "0" "4216" "0" "c.4216T>G" "r.(?)" "p.(Ser1406Ala)" "" "0000565954" "00006618" "10" "4205" "0" "4205" "0" "c.4205C>T" "r.(?)" "p.(Thr1402Met)" "" "0000565955" "00006618" "30" "4205" "0" "4205" "0" "c.4205C>T" "r.(?)" "p.(Thr1402Met)" "" "0000565956" "00006618" "30" "4203" "0" "4203" "0" "c.4203G>A" "r.(?)" "p.(Gln1401=)" "" "0000565957" "00006618" "30" "4197" "0" "4197" "0" "c.4197C>T" "r.(?)" "p.(Ile1399=)" "" "0000565958" "00006618" "30" "3913" "0" "3913" "0" "c.3913C>T" "r.(?)" "p.(Arg1305Cys)" "" "0000565959" "00006618" "10" "3894" "19" "3894" "19" "c.3894+19G>A" "r.(=)" "p.(=)" "" "0000565960" "00006618" "10" "3894" "19" "3894" "19" "c.3894+19G>A" "r.(=)" "p.(=)" "" "0000565961" "00006618" "10" "3876" "0" "3876" "0" "c.3876A>G" "r.(?)" "p.(Leu1292=)" "" "0000565962" "00006618" "10" "3876" "0" "3876" "0" "c.3876A>G" "r.(?)" "p.(Leu1292=)" "" "0000565963" "00006618" "50" "3752" "0" "3752" "0" "c.3752G>A" "r.(?)" "p.(Arg1251Gln)" "" "0000565965" "00006618" "30" "3526" "0" "3526" "0" "c.3526T>C" "r.(?)" "p.(Leu1176=)" "" "0000565966" "00006618" "30" "3456" "0" "3456" "0" "c.3456C>T" "r.(?)" "p.(Tyr1152=)" "" "0000565969" "00006618" "50" "3191" "0" "3191" "0" "c.3191T>C" "r.(?)" "p.(Leu1064Pro)" "" "0000565970" "00006618" "90" "3190" "0" "3191" "0" "c.3190_3191del" "r.(?)" "p.(Leu1064ValfsTer60)" "" "0000565971" "00006618" "50" "3163" "0" "3163" "0" "c.3163G>A" "r.(?)" "p.(Val1055Met)" "" "0000565972" "00006618" "50" "3029" "0" "3029" "0" "c.3029G>A" "r.(?)" "p.(Arg1010Gln)" "" "0000565974" "00006618" "30" "2956" "-5" "2956" "-5" "c.2956-5C>T" "r.spl?" "p.?" "" "0000565975" "00006618" "50" "2738" "0" "2738" "0" "c.2738C>A" "r.(?)" "p.(Ala913Asp)" "" "0000565978" "00006618" "50" "2629" "0" "2629" "0" "c.2629C>T" "r.(?)" "p.(Arg877Cys)" "" "0000565979" "00006618" "10" "2550" "0" "2550" "0" "c.2550G>C" "r.(?)" "p.(Pro850=)" "" "0000565980" "00006618" "90" "2520" "0" "2520" "0" "c.2520dup" "r.(?)" "p.(Arg841SerfsTer6)" "" "0000565981" "00006618" "30" "2346" "0" "2346" "0" "c.2346G>A" "r.(?)" "p.(Lys782=)" "" "0000565983" "00006618" "30" "2160" "14" "2160" "14" "c.2160+14C>T" "r.(=)" "p.(=)" "" "0000565984" "00006618" "10" "2160" "5" "2160" "5" "c.2160+5G>A" "r.spl?" "p.?" "" "0000565986" "00006618" "50" "2140" "0" "2140" "0" "c.2140G>A" "r.(?)" "p.(Val714Met)" "" "0000565987" "00006618" "30" "1971" "7" "1971" "7" "c.1971+7C>T" "r.(=)" "p.(=)" "" "0000565988" "00006618" "30" "1833" "-8" "1833" "-8" "c.1833-8T>A" "r.(=)" "p.(=)" "" "0000565989" "00006618" "30" "1833" "-8" "1833" "-8" "c.1833-8T>A" "r.(=)" "p.(=)" "" "0000565990" "00006618" "30" "1833" "-19" "1833" "-19" "c.1833-19C>G" "r.(=)" "p.(=)" "" "0000565991" "00006618" "50" "1445" "0" "1445" "0" "c.1445C>T" "r.(?)" "p.(Pro482Leu)" "" "0000565992" "00006618" "30" "1326" "0" "1326" "0" "c.1326C>T" "r.(?)" "p.(Asp442=)" "" "0000565993" "00006618" "30" "1289" "0" "1289" "0" "c.1289G>A" "r.(?)" "p.(Arg430His)" "" "0000565994" "00006618" "30" "1289" "0" "1289" "0" "c.1289G>A" "r.(?)" "p.(Arg430His)" "" "0000565995" "00006618" "30" "906" "0" "906" "0" "c.906G>C" "r.(?)" "p.(Ser302=)" "" "0000565996" "00006618" "30" "885" "0" "885" "0" "c.885C>T" "r.(?)" "p.(Asn295=)" "" "0000565997" "00006618" "30" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Arg174His)" "" "0000565999" "00006618" "30" "441" "0" "441" "0" "c.441G>C" "r.(?)" "p.(Lys147Asn)" "" "0000566000" "00006618" "10" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.(Arg145Gln)" "" "0000566001" "00006618" "30" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.(Arg145Gln)" "" "0000566002" "00006618" "30" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Val45Ile)" "" "0000566003" "00006618" "30" "100" "0" "100" "0" "c.100C>A" "r.(?)" "p.(His34Asn)" "" "0000566005" "00006618" "30" "38" "0" "38" "0" "c.38T>C" "r.(?)" "p.(Ile13Thr)" "" "0000617343" "00006618" "50" "3621" "0" "3621" "0" "c.3621G>A" "r.(?)" "p.(Ala1207=)" "" "0000617344" "00006618" "30" "3517" "0" "3517" "0" "c.3517C>T" "r.(?)" "p.(Arg1173Trp)" "" "0000617345" "00006618" "30" "3517" "0" "3517" "0" "c.3517C>T" "r.(?)" "p.(Arg1173Trp)" "" "0000617346" "00006618" "90" "3190" "0" "3191" "0" "c.3190_3191del" "r.(?)" "p.(Leu1064ValfsTer60)" "" "0000649888" "00006618" "50" "4862" "0" "4862" "0" "c.4862T>C" "r.(?)" "p.(Val1621Ala)" "" "0000649889" "00006618" "30" "4205" "0" "4205" "0" "c.4205C>T" "r.(?)" "p.(Thr1402Met)" "" "0000649890" "00006618" "50" "3517" "0" "3517" "0" "c.3517C>T" "r.(?)" "p.(Arg1173Trp)" "" "0000658473" "00006618" "30" "11139" "0" "11139" "0" "c.*4995G>A" "r.(=)" "p.(=)" "" "0000658474" "00006618" "50" "3029" "0" "3029" "0" "c.3029G>A" "r.(?)" "p.(Arg1010Gln)" "" "0000658475" "00006618" "30" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Gly165Ser)" "" "0000667940" "00006618" "70" "4491" "1" "4491" "1" "c.4491+1G>T" "r.spl" "p.?" "" "0000667941" "00006618" "90" "3190" "0" "3190" "0" "c.3190del" "r.(?)" "p.(Leu1064Cysfs*30)" "" "0000681265" "00006618" "50" "5621" "0" "5621" "0" "c.5621C>G" "r.(?)" "p.(Thr1874Arg)" "" "0000681266" "00006618" "90" "5520" "0" "5520" "0" "c.5520C>A" "r.(?)" "p.(Tyr1840Ter)" "" "0000681267" "00006618" "50" "5235" "1" "5235" "7" "c.5235+1_5235+7del" "r.spl?" "p.?" "" "0000681268" "00006618" "30" "4842" "0" "4842" "0" "c.4842C>T" "r.(?)" "p.(Ala1614=)" "" "0000681269" "00006618" "90" "4751" "1" "4751" "1" "c.4751+1G>A" "r.spl?" "p.?" "" "0000681270" "00006618" "50" "4732" "0" "4732" "0" "c.4732C>T" "r.(?)" "p.(Leu1578Phe)" "" "0000681271" "00006618" "50" "4550" "0" "4550" "0" "c.4550C>T" "r.(?)" "p.(Thr1517Met)" "" "0000681272" "00006618" "50" "4343" "0" "4343" "0" "c.4343C>T" "r.(?)" "p.(Pro1448Leu)" "" "0000681273" "00006618" "50" "1798" "0" "1798" "0" "c.1798C>T" "r.(?)" "p.(Arg600Cys)" "" "0000692674" "00006618" "50" "3311" "0" "3311" "0" "c.3311G>A" "r.(?)" "p.(Arg1104Gln)" "" "0000727104" "00006618" "30" "11139" "0" "11139" "0" "c.*4995G>A" "r.(=)" "p.(=)" "" "0000727105" "00006618" "30" "5939" "6" "5939" "6" "c.5939+6C>T" "r.(=)" "p.(=)" "" "0000727106" "00006618" "30" "5229" "0" "5229" "0" "c.5229C>A" "r.(?)" "p.(Gly1743=)" "" "0000727107" "00006618" "90" "4402" "0" "4402" "0" "c.4402C>T" "r.(?)" "p.(Arg1468Ter)" "" "0000727108" "00006618" "50" "4343" "0" "4343" "0" "c.4343C>T" "r.(?)" "p.(Pro1448Leu)" "" "0000727109" "00006618" "50" "3191" "0" "3191" "0" "c.3191T>C" "r.(?)" "p.(Leu1064Pro)" "" "0000727110" "00006618" "50" "2718" "5" "2718" "5" "c.2718+5G>C" "r.spl?" "p.?" "" "0000727111" "00006618" "30" "2104" "0" "2104" "0" "c.2104G>A" "r.(?)" "p.(Gly702Ser)" "" "0000727112" "00006618" "30" "1387" "-5" "1387" "-5" "c.1387-5T>C" "r.spl?" "p.?" "" "0000727113" "00006618" "50" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Val45Ile)" "" "0000729902" "00006618" "90" "5254" "0" "5254" "0" "c.5254T>C" "r.(?)" "p.(Phe1752Leu)" "" "0000729903" "00006618" "90" "1360" "0" "1363" "0" "c.1360_1363del" "r.(?)" "p.(Thr455Serfs*24)" "" "0000729904" "00006618" "90" "2518" "0" "2518" "0" "c.2518dup" "r.(?)" "p.(Arg841Serfs*6)" "" "0000808652" "00006618" "50" "4759" "0" "4759" "0" "c.4759C>T" "r.(?)" "p.(Arg1587Trp)" "" "0000808653" "00006618" "50" "3811" "0" "3811" "0" "c.3811C>T" "r.(?)" "p.(Arg1271Cys)" "" "0000808654" "00006618" "30" "2140" "0" "2140" "0" "c.2140G>A" "r.(?)" "p.(Val714Met)" "" "0000808655" "00006618" "50" "1041" "0" "1041" "0" "c.1041G>C" "r.(?)" "p.(Gln347His)" "" "0000823725" "00006618" "50" "3452" "0" "3452" "0" "c.3452G>A" "r.(?)" "p.(Arg1151His)" "" "0000823726" "00006618" "50" "1358" "0" "1358" "0" "c.1358C>T" "r.(?)" "p.(Thr453Met)" "" "0000830792" "00006618" "50" "5497" "0" "5497" "0" "c.5497G>A" "r.(?)" "p.(Glu1833Lys)" "44" "0000830793" "00006618" "50" "4009" "0" "4009" "0" "c.4009C>T" "r.(?)" "p.(Arg1337Trp)" "31" "0000830794" "00006618" "50" "1718" "0" "1718" "0" "c.1718G>A" "r.(?)" "p.(Arg573Gln)" "15" "0000855427" "00006618" "70" "5939" "2" "5939" "2" "c.5939+2T>C" "r.spl?" "p.?" "" "0000855428" "00006618" "30" "3798" "0" "3798" "0" "c.3798G>A" "r.(?)" "p.(Pro1266=)" "" "0000855429" "00006618" "30" "2766" "0" "2766" "0" "c.2766C>T" "r.(?)" "p.(Ala922=)" "" "0000855430" "00006618" "30" "2505" "0" "2505" "0" "c.2505C>T" "r.(?)" "p.(Tyr835=)" "" "0000855431" "00006618" "30" "441" "0" "441" "0" "c.441G>C" "r.(?)" "p.(Lys147Asn)" "" "0000865840" "00006618" "30" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Glu1921Lys)" "" "0000865841" "00006618" "50" "5690" "0" "5690" "0" "c.5690C>T" "r.(?)" "p.(Thr1897Met)" "" "0000865842" "00006618" "50" "3683" "0" "3683" "0" "c.3683G>A" "r.(?)" "p.(Arg1228Gln)" "" "0000865843" "00006618" "50" "3240" "1" "3240" "1" "c.3240+1G>T" "r.spl?" "p.?" "" "0000865844" "00006618" "50" "1993" "0" "1993" "0" "c.1993G>A" "r.(?)" "p.(Gly665Arg)" "" "0000865845" "00006618" "50" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "" "0000865846" "00006618" "30" "720" "7" "720" "7" "c.720+7del" "r.(=)" "p.(=)" "" "0000865847" "00006618" "30" "38" "0" "38" "0" "c.38T>C" "r.(?)" "p.(Ile13Thr)" "" "0000878246" "00006618" "90" "1024" "1" "2554" "1" "c.(1023+1_1024+1)_(2554+1_2555-1)del" "r.(?)" "p.(Leu342Glyfs*5)" "9i_21i" "0000894754" "00006618" "50" "6062" "0" "6062" "0" "c.6062G>A" "r.(?)" "p.(Arg2021His)" "" "0000894755" "00006618" "30" "5829" "0" "5829" "0" "c.5829C>A" "r.(?)" "p.(Asn1943Lys)" "" "0000894756" "00006618" "50" "3680" "0" "3680" "0" "c.3680C>A" "r.(?)" "p.(Ser1227Tyr)" "" "0000894757" "00006618" "30" "1387" "-5" "1387" "-5" "c.1387-5T>C" "r.spl?" "p.?" "" "0000894758" "00006618" "30" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Gly98Arg)" "" "0000894759" "00006618" "50" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Cys)" "" "0000926801" "00006618" "50" "2627" "0" "2627" "0" "c.2627C>T" "r.(?)" "p.(Ala876Val)" "" "0000926802" "00006618" "30" "2476" "0" "2476" "0" "c.2476C>T" "r.(?)" "p.(Arg826Cys)" "" "0000926803" "00006618" "30" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Cys)" "" "0000930994" "00006618" "30" "364" "0" "364" "0" "c.364A>G" "r.(?)" "p.(Ile122Val)" "" "0000951200" "00006618" "90" "11128" "0" "11130" "0" "c.*4984_*4986del" "r.(=)" "p.(=)" "" "0000951201" "00006618" "50" "4054" "0" "4054" "0" "c.4054C>T" "r.(?)" "p.(Arg1352Cys)" "" "0000957538" "00006618" "70" "4786" "0" "4786" "0" "c.4786C>T" "r.(?)" "p.(Arg1596Trp)" "" "0000957539" "00006618" "70" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Glu294Gln)" "" "0000969532" "00006618" "30" "4547" "0" "4547" "0" "c.4547C>T" "r.(?)" "p.(Thr1516Met)" "" "0000969534" "00006618" "30" "2795" "0" "2795" "0" "c.2795G>C" "r.(?)" "p.(Trp932Ser)" "" "0000969536" "00006618" "30" "1644" "-5" "1644" "-5" "c.1644-5C>G" "r.spl?" "p.?" "" "0000969537" "00006618" "50" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Glu52Lys)" "" "0000983178" "00006618" "30" "9823" "0" "9823" "0" "c.*3679G>T" "r.(=)" "p.(=)" "" "0000983179" "00006618" "30" "5688" "9" "5688" "9" "c.5688+9G>C" "r.(=)" "p.(=)" "" "0000983180" "00006618" "50" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746His)" "" "0000983181" "00006618" "50" "4159" "0" "4159" "0" "c.4159G>A" "r.(?)" "p.(Glu1387Lys)" "" "0000983182" "00006618" "30" "3894" "9" "3894" "9" "c.3894+9G>A" "r.(=)" "p.(=)" "" "0000983183" "00006618" "50" "2718" "5" "2718" "5" "c.2718+5G>C" "r.spl?" "p.?" "" "0000983184" "00006618" "50" "2224" "0" "2224" "0" "c.2224C>T" "r.(?)" "p.(Arg742Trp)" "" "0000983185" "00006618" "70" "1832" "1" "1832" "1" "c.1832+1G>A" "r.spl?" "p.?" "" "0000983186" "00006618" "50" "1738" "0" "1738" "0" "c.1738G>A" "r.(?)" "p.(Glu580Lys)" "" "0001004332" "00006618" "30" "6207" "0" "6207" "0" "c.*63C>T" "r.(=)" "p.(=)" "" "0001004333" "00006618" "50" "5540" "0" "5540" "0" "c.5540T>C" "r.(?)" "p.(Leu1847Pro)" "" "0001004334" "00006618" "30" "5174" "0" "5174" "0" "c.5174C>T" "r.(?)" "p.(Ala1725Val)" "" "0001004335" "00006618" "30" "2902" "0" "2902" "0" "c.2902A>G" "r.(?)" "p.(Ile968Val)" "" "0001004336" "00006618" "30" "2578" "0" "2578" "0" "c.2578G>T" "r.(?)" "p.(Ala860Ser)" "" "0001004337" "00006618" "30" "2428" "0" "2428" "0" "c.2428C>G" "r.(?)" "p.(His810Asp)" "" "0001004338" "00006618" "30" "2093" "0" "2093" "0" "c.2093G>A" "r.(?)" "p.(Arg698His)" "" "0001004339" "00006618" "30" "1643" "5" "1643" "5" "c.1643+5G>A" "r.spl?" "p.?" "" "0001004340" "00006618" "30" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Arg217Gln)" "" "0001007512" "00006618" "70" "1445" "0" "1445" "0" "c.1445C>T" "r.(?)" "p.(Pro482Leu)" "" "0001007541" "00006618" "70" "2514" "0" "2514" "0" "c.2514C>A" "r.(?)" "p.(Tyr838Ter)" "" "0001015737" "00006618" "50" "2224" "0" "2224" "0" "c.2224C>T" "r.(?)" "p.(Arg742Trp)" "" "0001015738" "00006618" "50" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Arg287Gln)" "" "0001042586" "00006618" "90" "5939" "2" "5939" "2" "c.5939+2T>C" "r.spl?" "p.?" "" "0001042587" "00006618" "50" "5893" "0" "5893" "0" "c.5893C>T" "r.(?)" "p.(Arg1965Trp)" "" "0001042588" "00006618" "50" "5615" "0" "5615" "0" "c.5615G>A" "r.(?)" "p.(Arg1872His)" "" "0001042589" "00006618" "50" "5332" "0" "5332" "0" "c.5332A>C" "r.(?)" "p.(Lys1778Gln)" "" "0001042590" "00006618" "50" "4672" "0" "4672" "0" "c.4672C>G" "r.(?)" "p.(Leu1558Val)" "" "0001042591" "00006618" "50" "4196" "0" "4201" "0" "c.4196_4201del" "r.(?)" "p.(Ile1399_Gln1401delinsLys)" "" "0001042592" "00006618" "50" "3848" "0" "3848" "0" "c.3848G>A" "r.(?)" "p.(Arg1283His)" "" "0001042593" "00006618" "50" "3606" "0" "3611" "0" "c.3606_3611del" "r.(?)" "p.(Glu1203_Gly1204del)" "" "0001042594" "00006618" "70" "3154" "0" "3154" "0" "c.3154G>A" "r.(?)" "p.(Glu1052Lys)" "" "0001042595" "00006618" "30" "1997" "0" "1997" "0" "c.1997G>A" "r.(?)" "p.(Arg666His)" "" "0001042596" "00006618" "50" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93Gln)" "" "0001042597" "00006618" "70" "132" "1" "132" "1" "c.132+1G>T" "r.spl?" "p.?" "" "0001047516" "00006618" "70" "4021" "2" "4021" "2" "c.4021+2dup" "r.spl" "p.?" "i32" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 60 "{{screeningid}}" "{{variantid}}" "0000029815" "0000055901" "0000029816" "0000055902" "0000029817" "0000055903" "0000029818" "0000055904" "0000029819" "0000055905" "0000029820" "0000055906" "0000029820" "0000055907" "0000029821" "0000055908" "0000029822" "0000055909" "0000029822" "0000055910" "0000029823" "0000055911" "0000029824" "0000055912" "0000029825" "0000055913" "0000029826" "0000055914" "0000029826" "0000055915" "0000029827" "0000055916" "0000029827" "0000055917" "0000029828" "0000055918" "0000029828" "0000055919" "0000029829" "0000055920" "0000029829" "0000055921" "0000029830" "0000055922" "0000029831" "0000055923" "0000029832" "0000055924" "0000034128" "0000060661" "0000034131" "0000060664" "0000034132" "0000060665" "0000034133" "0000060666" "0000034134" "0000060667" "0000034134" "0000061672" "0000034135" "0000060668" "0000034136" "0000060669" "0000034137" "0000060670" "0000034138" "0000060671" "0000034139" "0000060672" "0000034140" "0000060673" "0000034141" "0000060674" "0000034142" "0000060675" "0000034143" "0000060676" "0000034143" "0000061673" "0000034143" "0000061674" "0000293199" "0000649888" "0000293200" "0000649889" "0000293201" "0000649890" "0000297864" "0000667940" "0000297864" "0000667941" "0000332620" "0000729902" "0000332621" "0000729903" "0000332622" "0000729904" "0000393111" "0000823725" "0000393111" "0000823726" "0000398578" "0000830792" "0000398579" "0000830793" "0000398580" "0000830794" "0000418477" "0000878246" "0000448145" "0000957538" "0000448146" "0000957539" "0000455358" "0001007541" "0000455405" "0001007512" "0000468051" "0001047516"