### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DPP6) # 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}}" "DPP6" "dipeptidyl-peptidase 6" "7" "q36.2" "unknown" "NC_000007.13" "NC_000007.13" "" "http://www.LOVD.nl/DPP6" "" "1" "3010" "1804" "126141" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/DPP6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2014-01-06 00:00:00" "00006" "2016-06-18 11:29:17" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00023899" "DPP6" "transcript variant 2 (removed from reference sequence)" "000" "NM_001936.3" "" "NP_001927.3" "" "" "" "-233" "4217" "2412" "1" "1" "00006" "2014-01-17 14:54:40" "" "" "00025429" "DPP6" "dipeptidyl peptidase like 6, transcript variant 1" "004" "NM_130797.3" "" "NP_570629.2" "" "" "" "-403" "4408" "2598" "153749503" "154686000" "00001" "2019-07-17 17:30:37" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00290" "GTS" "Gilles de la Tourette syndrome (GTS)" "AD" "137580" "" "" "" "00006" "2013-12-20 10:46:12" "00006" "2021-12-10 21:51:32" "00295" "VF2" "fibrillation, ventricular, paroxysmal, familial, type 2 (VF-2)" "AD" "612956" "" "" "" "00006" "2014-01-12 12:37:09" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04451" "MRD33" "mental retardation, autosomal dominant, type 33 (MRD-33)" "" "616311" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DPP6" "00295" "DPP6" "04451" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00004236" "" "" "" "20" "" "00006" "" "summary data from a large study; patients from 3 distantly related families and 7/42 independent patients" "" "no" "Netherlands" "" "0" "" "" "" "" "00019611" "" "" "" "1" "" "00672" "" "" "M" "" "(Italy)" "" "0" "" "" "white" "" "00064739" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "48y" "0" "" "" "" "" "00210054" "" "" "" "1" "" "03121" "{PMID:Vadgama 2019:30886340}, {DOI:Vadgama 2019:10.1038/s41431-019-0376-7}" "" "M" "no" "" "" "0" "" "" "" "RP" "00311395" "" "" "" "2" "" "00006" "{PMID:Granadillo 2020:32152250}" "2-generation family, affected mother/son" "M" "" "" "" "0" "" "" "white;Hispanic" "Pat13" "00311406" "" "" "" "1" "" "00006" "{PMID:Liao 2013:23832105}" "" "M" "" "China" "" "0" "" "" "" "BY0712" "00311407" "" "" "" "1" "" "00006" "{PMID:Liao 2013:23832105}" "" "F" "" "China" "" "0" "" "" "" "BY2018" "00311408" "" "" "" "4" "" "00006" "{PMID:Liao 2013:23832105}" "3-generation family, 4 affected (3F, M)" "F" "" "China" "" "0" "" "" "" "FamPatBY2950(vaseIII1)" "00311409" "" "" "00311408" "1" "" "00006" "{PMID:Liao 2013:23832105}" "mother" "F" "" "China" "" "0" "" "" "" "FamCaseII2" "00311410" "" "" "00311408" "1" "" "00006" "{PMID:Liao 2013:23832105}" "aunt" "F" "" "China" "" "0" "" "" "" "FamCaseII3" "00311411" "" "" "00311408" "1" "" "00006" "{PMID:Liao 2013:23832105}" "grandfather" "M" "" "China" "" "0" "" "" "" "FamCaseI1" "00374717" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3158" "00419584" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9068" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00004236" "00295" "00019611" "00290" "00064739" "05166" "00210054" "00138" "00311395" "05611" "00311406" "00198" "00311407" "00198" "00311408" "00198" "00311409" "00198" "00311410" "00198" "00311411" "00198" "00374717" "00198" "00419584" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00198, 00290, 00295, 01157, 04451, 05166, 05611 ## Count = 14 "{{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}}" "0000002969" "00295" "00004236" "00006" "Familial, autosomal dominant" "" "Idiopathic Ventricular Fibrillation (IVF), sudden death/successfully resuscitated at young age" "" "" "" "" "" "" "" "" "" "" "" "0000017397" "00290" "00019611" "00672" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000053264" "05166" "00064739" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158628" "00138" "00210054" "03121" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236642" "05611" "00311395" "00006" "Familial, autosomal dominant" "14y" "birth weight normal, length normal; normal height, weight >2SD, OFC 1.35; developmental delay/intellectual disability, WISC: VCI 79, PRI 71, PSI 73; no gross motor delay, fine motor delay, walk-11m; speech delay, 5y-first words; autism, attention deficit hyperactivity disorder; hypotonia; sleep problems latency; no hearing loss; normal vision; broad palms, repair of tibial malformation; normal face, normal forehead, normal eyes, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain normal; ECG normal; renal ultrasound normal; cryptorchidism; mother has learning disability, attention deficit hyperactivity disorder, type 2 diabetes mellitus, scoliosis, migraine; father has social differences, compulsions, anxiety" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236653" "00198" "00311406" "00006" "Familial, autosomal dominant" "12y" "microcephaly, OFC 47 cm (<−3SD), small stature (110 cm, <−3SD), low body weight (29 kg, <−3SD), microcephaly, moderate mental retardation; can not concentrate on work, speaks single words with ambiguous pronunciation; skeletal radiographs show delayed bone age" "" "" "" "" "" "" "" "" "" "microcephaly, intellectual disability" "" "0000236654" "00198" "00311407" "00006" "Familial, autosomal dominant" "15y" "microcephaly, OFC 48 cm (<-3SD), small stature (130 cm, <−3SD), low body weight (30.5 kg, <−3SD), microcephaly, moderate mental retardation; speaks only single words with ambiguous pronunciation; scoliosis, congenital amblyopia resulting from chorioretinal degeneration" "" "" "" "" "" "" "" "" "" "microcephaly, intellectual disability" "" "0000236655" "00198" "00311408" "00006" "Familial, autosomal dominant" "5y" "microcephaly, OFC 44 cm (<−3SD), small stature (93 cm, <−3SD), low body weight (13 kg, <−3SD), microcephaly, severe mental retardation; not able to recognize colours and numbers; psychomotor delay which equal to 2y level; hyperactive" "" "" "" "" "" "" "" "" "" "microcephaly, intellectual disability" "" "0000236656" "00198" "00311409" "00006" "Familial, autosomal dominant" "29y" "microcephaly, OFC 50 cm (<−3SD), small stature (156 cm, <−2SD), low body weight (44 kg, <−3SD, mild mental retardation; no sign of dominant phenotypic abnormality except for microcephaly and mild mental retardation (IQ65 measured with the Wechsler Adult Intelligence Scale)" "" "" "" "" "" "" "" "" "" "microcephaly, intellectual disability" "" "0000236657" "00198" "00311410" "00006" "Familial, autosomal dominant" "26y" "microcephaly, OFC 50 cm (<−3SD), normal stature (162 cm), low body weight (45 kg, <−3SD), severe mental retardation; severe cognitive deficiency, memorial problems; does not comprehend a complete sentence, such as instructions on how to take medicine; not able to remember events that happened 3-4y ago, including childhood anecdotes and year of wedding; in daily life afraid to get far away from the house (not able to find her way back home)" "" "" "" "" "" "" "" "" "" "microcephaly, intellectual disability" "" "0000236658" "00198" "00311411" "00006" "Familial, autosomal dominant" "56y" "microcephaly, OFC 51 cm (<−2SD), small stature (163 cm, <−2SD), low body weight(49 kg, <−3SD), borderline mental retardation; no sign of dominant phenotypic abnormality except for microcephaly and mild mental retardation (IQ66 measured with Wechsler Adult Intelligence Scale); very poor performance in math" "" "" "" "" "" "" "" "" "" "microcephaly, intellectual disability" "" "0000269927" "00198" "00374717" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder, intellectual disability" "" "0000310865" "00198" "00419584" "02300" "Isolated (sporadic)" "3y" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental abnormality" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000004163" "00004236" "1" "00006" "00006" "2014-01-17 15:16:07" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000019597" "00019611" "1" "00672" "00672" "2014-08-07 13:44:27" "" "" "arrayCGH" "DNA" "" "" "0000064878" "00064739" "1" "01601" "01601" "2016-05-10 12:59:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000211113" "00210054" "1" "03121" "03121" "2018-12-26 04:21:06" "" "" "SEQ-NG" "DNA" "Buccal" "WES" "0000312565" "00311395" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000312576" "00311406" "1" "00006" "00006" "2020-09-24 18:43:56" "00006" "2020-09-24 18:46:31" "arraySNP" "DNA" "" "Affymetrix GeneChip Cytoscan HD Array" "0000312577" "00311407" "1" "00006" "00006" "2020-09-24 18:43:56" "00006" "2020-09-24 18:58:39" "arraySNP" "DNA" "" "Affymetrix GeneChip Cytoscan HD Array" "0000312578" "00311408" "1" "00006" "00006" "2020-09-24 18:43:56" "" "" "arrayCGH" "DNA" "" "" "0000312579" "00311409" "1" "00006" "00006" "2020-09-24 18:43:56" "" "" "arrayCGH" "DNA" "" "" "0000312580" "00311410" "1" "00006" "00006" "2020-09-24 18:43:56" "" "" "arrayCGH" "DNA" "" "" "0000312581" "00311411" "1" "00006" "00006" "2020-09-24 18:43:56" "" "" "arrayCGH" "DNA" "" "" "0000375911" "00374717" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000420888" "00419584" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000004163" "DPP6" "0000019597" "DPP6" "0000312565" "TNRC6B" "0000312576" "DPP6" "0000312577" "DPP6" "0000312578" "DPP6" "0000312579" "DPP6" "0000312580" "DPP6" "0000312581" "DPP6" "0000375911" "DPP6" ## 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 = 212 "{{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}}" "0000012551" "3" "50" "7" "154621597" "154621597" "subst" "0" "00037" "chr7_000155" "g.154621597C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154829887C>A" "" "VUS" "" "0000023124" "2" "35" "7" "154461112" "154461112" "subst" "0.869516" "00006" "DPP6_000001" "g.154461112A>G" "" "{PMID:Alders 2009:19285295}, {OMIM126141:0001}" "" "" "normal expression of this allele" "Germline" "yes" "rs3807218" "0" "" "" "g.154669402A>G" "" "likely benign" "" "0000023125" "1" "75" "7" "154002240" "154002240" "subst" "0" "00006" "DPP6_000002" "g.154002240C>T" "" "{PMID:Alders 2009:19285295}, {OMIM126141:0001}" "" "1-340C>T" "causality not certain; shared haplotype; not in 700 control chromosomes; increased RNA expression heart DPP isoforms 2 and 3 (1 not expressed)" "Germline" "yes" "" "0" "" "" "g.154305155C>T" "" "likely pathogenic" "" "0000040017" "0" "90" "7" "153524141" "153659475" "" "0" "00672" "DPP6_000003" "g.(153499951_153524141)_(153659475_153670448)del" "" "" "" "g.(153,499,951-153,524,141)_(153,659,475-153,670,448)del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000096532" "0" "50" "7" "154667672" "154667672" "subst" "0.000110406" "01601" "DPP6_000004" "g.154667672C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154875962C>T" "" "VUS" "" "0000248592" "0" "10" "7" "154461112" "154461112" "subst" "0.869516" "02325" "DPP6_000001" "g.154461112A>G" "" "" "" "DPP6(NM_001039350.3):c.531A>G (p.K177=), DPP6(NM_130797.4):c.723A>G (p.K241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154669402A>G" "" "benign" "" "0000265442" "0" "30" "7" "154002242" "154002242" "subst" "0" "02330" "DPP6_000008" "g.154002242T>A" "" "" "" "DPP6(NM_130797.4):c.244-141057T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154305157T>A" "" "likely benign" "" "0000265443" "0" "90" "7" "154002240" "154002240" "subst" "0" "02330" "DPP6_000002" "g.154002240C>T" "" "" "" "DPP6(NM_130797.4):c.244-141059C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154305155C>T" "" "pathogenic" "" "0000265444" "0" "30" "7" "154002224" "154002224" "subst" "0" "02330" "DPP6_000007" "g.154002224G>A" "" "" "" "DPP6(NM_130797.4):c.244-141075G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154305139G>A" "" "likely benign" "" "0000267510" "0" "10" "7" "154679447" "154679447" "subst" "0.968791" "02325" "DPP6_000015" "g.154679447G>A" "" "" "" "DPP6(NM_001039350.3):c.2112+3G>A, DPP6(NM_130797.4):c.2304+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154887737G>A" "" "benign" "" "0000267511" "0" "10" "7" "154429560" "154429560" "subst" "0.710878" "02325" "DPP6_000011" "g.154429560C>T" "" "" "" "DPP6(NM_001039350.3):c.465C>T (p.Y155=), DPP6(NM_130797.4):c.657C>T (p.Y219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154637850C>T" "" "benign" "" "0000267512" "0" "30" "7" "154429569" "154429569" "subst" "0.0030554" "02325" "DPP6_000012" "g.154429569C>T" "" "" "" "DPP6(NM_130797.4):c.666C>T (p.S222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154637859C>T" "" "likely benign" "" "0000275499" "0" "50" "7" "154595608" "154595608" "subst" "0" "01943" "DPP6_000013" "g.154595608C>T" "" "" "" "DPP6(NM_130797.4):c.1442C>T (p.T481I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154803898C>T" "" "VUS" "" "0000275500" "0" "30" "7" "154667695" "154667695" "subst" "2.45014E-5" "01943" "DPP6_000014" "g.154667695G>A" "" "" "" "DPP6(NM_130797.4):c.1963G>A (p.A655T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154875985G>A" "" "likely benign" "" "0000275501" "0" "10" "7" "153750131" "153750131" "subst" "0.0278828" "01943" "DPP6_000005" "g.153750131G>A" "" "" "" "DPP6(NM_130797.4):c.226G>A (p.D76N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154053046G>A" "" "benign" "" "0000275502" "0" "30" "7" "153750140" "153750140" "subst" "0" "01943" "DPP6_000006" "g.153750140G>A" "" "" "" "DPP6(NM_130797.4):c.235G>A (p.E79K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154053055G>A" "" "likely benign" "" "0000275503" "0" "30" "7" "154379423" "154379423" "subst" "0" "01943" "DPP6_000009" "g.154379423G>A" "" "" "" "DPP6(NM_001290253.1):c.691G>A (p.V231I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154587713G>A" "" "likely benign" "" "0000275504" "0" "30" "7" "154379646" "154379646" "subst" "0" "01943" "DPP6_000010" "g.154379646C>T" "" "" "" "DPP6(NM_001290253.1):c.914C>T (p.T305I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154587936C>T" "" "likely benign" "" "0000344967" "0" "30" "7" "154681024" "154681024" "subst" "0" "02327" "DPP6_000019" "g.154681024C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154889314C>T" "" "likely benign" "" "0000442541" "0" "70" "7" "154461147" "154461147" "subst" "0" "03121" "DPP6_000020" "g.154461147A>G" "" "{PMID:Vadgama 2019:30886340}, {DOI:Vadgama 2019:10.1038/s41431-019-0376-7}" "" "" "" "Germline" "" "" "0" "" "" "g.154669437A>G" "" "likely pathogenic" "" "0000531463" "0" "10" "7" "153750019" "153750019" "subst" "0.130822" "02325" "DPP6_000021" "g.153750019C>T" "" "" "" "DPP6(NM_130797.4):c.114C>T (p.G38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154052934C>T" "" "benign" "" "0000531464" "0" "30" "7" "153750045" "153750046" "delins" "0" "02327" "DPP6_000022" "g.153750045_153750046delinsTT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154052960_154052961delinsTT" "" "likely benign" "" "0000531465" "0" "50" "7" "153750087" "153750092" "del" "0" "02325" "DPP6_000023" "g.153750087_153750092del" "" "" "" "DPP6(NM_130797.4):c.182_187delGCGGCG (p.G61_G62del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154053002_154053007del" "" "VUS" "" "0000531466" "0" "30" "7" "153750090" "153750092" "dup" "0" "01943" "DPP6_000024" "g.153750090_153750092dup" "" "" "" "DPP6(NM_130797.4):c.185_187dup (p.(Gly62dup)), DPP6(NM_130797.4):c.185_187dupGCG (p.G62dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154053005_154053007dup" "" "likely benign" "" "0000531467" "0" "30" "7" "153750096" "153750096" "subst" "0" "02326" "DPP6_000025" "g.153750096G>A" "" "" "" "DPP6(NM_130797.4):c.191G>A (p.G64D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154053011G>A" "" "likely benign" "" "0000531471" "0" "90" "7" "154002240" "154002240" "subst" "0" "02326" "DPP6_000002" "g.154002240C>T" "" "" "" "DPP6(NM_130797.4):c.244-141059C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154305155C>T" "" "pathogenic" "" "0000531472" "0" "30" "7" "154172020" "154172020" "subst" "0" "02327" "DPP6_000026" "g.154172020C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154474935C>T" "" "likely benign" "" "0000531476" "0" "30" "7" "154379656" "154379656" "subst" "0" "01943" "DPP6_000027" "g.154379656C>T" "" "" "" "DPP6(NM_001290253.1):c.924C>T (p.R308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154587946C>T" "" "likely benign" "" "0000531477" "0" "10" "7" "154461112" "154461112" "subst" "0.869516" "02326" "DPP6_000001" "g.154461112A>G" "" "" "" "DPP6(NM_001039350.3):c.531A>G (p.K177=), DPP6(NM_130797.4):c.723A>G (p.K241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154669402A>G" "" "benign" "" "0000531479" "0" "30" "7" "154564611" "154564611" "subst" "0" "02327" "DPP6_000029" "g.154564611C>T" "" "" "" "DPP6(NM_130797.4):c.1095C>T (p.T365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154772901C>T" "" "likely benign" "" "0000531480" "0" "30" "7" "154593157" "154593157" "subst" "0" "01943" "DPP6_000030" "g.154593157G>A" "" "" "" "DPP6(NM_130797.4):c.1392G>A (p.T464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154801447G>A" "" "likely benign" "" "0000531481" "0" "30" "7" "154598776" "154598776" "subst" "3.25346E-5" "02325" "DPP6_000031" "g.154598776C>T" "" "" "" "DPP6(NM_130797.4):c.1620C>T (p.S540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154807066C>T" "" "likely benign" "" "0000531482" "0" "30" "7" "154677338" "154677338" "subst" "0" "02327" "DPP6_000032" "g.154677338T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154885628T>G" "" "likely benign" "" "0000610981" "0" "30" "7" "153750014" "153750014" "subst" "0" "02327" "DPP6_000033" "g.153750014G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154052929G>A" "" "likely benign" "" "0000610982" "0" "50" "7" "153750023" "153750023" "subst" "0" "01804" "DPP6_000034" "g.153750023G>A" "" "" "" "DPP6(NM_130797.2):c.118G>A (p.(Gly40Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154052938G>A" "" "VUS" "" "0000610983" "0" "30" "7" "153750045" "153750045" "subst" "0.000232576" "02327" "DPP6_000035" "g.153750045G>T" "" "" "" "DPP6(NM_130797.4):c.140G>T (p.R47L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154052960G>T" "" "likely benign" "" "0000610984" "0" "30" "7" "153750046" "153750046" "subst" "0.000305281" "02327" "DPP6_000036" "g.153750046G>T" "" "" "" "DPP6(NM_130797.4):c.141G>T (p.R47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154052961G>T" "" "likely benign" "" "0000610985" "0" "30" "7" "153750084" "153750092" "del" "0" "02327" "DPP6_000037" "g.153750084_153750092del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154052999_154053007del" "" "likely benign" "" "0000610986" "0" "30" "7" "153750108" "153750108" "subst" "0" "02327" "DPP6_000038" "g.153750108G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154053023G>A" "" "likely benign" "" "0000610987" "0" "30" "7" "153750121" "153750121" "subst" "0.00044287" "02327" "DPP6_000039" "g.153750121G>A" "" "" "" "DPP6(NM_130797.4):c.216G>A (p.Q72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154053036G>A" "" "likely benign" "" "0000610988" "0" "10" "7" "153750132" "153750132" "subst" "0" "02327" "DPP6_000040" "g.153750132A>T" "" "" "" "DPP6(NM_130797.4):c.227A>T (p.D76V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154053047A>T" "" "benign" "" "0000610989" "0" "30" "7" "154379556" "154379556" "subst" "0" "02327" "DPP6_000041" "g.154379556A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154587846A>G" "" "likely benign" "" "0000610990" "0" "10" "7" "154379727" "154379727" "subst" "0" "02327" "DPP6_000042" "g.154379727A>G" "" "" "" "DPP6(NM_001290253.2):c.995A>G (p.H332R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154588017A>G" "" "benign" "" "0000610991" "0" "30" "7" "154519519" "154519519" "subst" "0.000101628" "02327" "DPP6_000043" "g.154519519G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154727809G>A" "" "likely benign" "" "0000610992" "0" "30" "7" "154561191" "154561191" "subst" "0.000154334" "02327" "DPP6_000044" "g.154561191C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154769481C>T" "" "likely benign" "" "0000610993" "0" "50" "7" "154585805" "154585805" "subst" "0" "02327" "DPP6_000045" "g.154585805A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154794095A>C" "" "VUS" "" "0000610994" "0" "30" "7" "154595624" "154595624" "subst" "0.000361874" "02327" "DPP6_000046" "g.154595624C>T" "" "" "" "DPP6(NM_001936.5):c.1272C>T (p.D424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154803914C>T" "" "likely benign" "" "0000610995" "0" "50" "7" "154598734" "154598734" "subst" "8.13273E-6" "02327" "DPP6_000047" "g.154598734G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154807024G>C" "" "VUS" "" "0000610996" "0" "10" "7" "154645534" "154645534" "subst" "0.00113759" "02327" "DPP6_000048" "g.154645534A>C" "" "" "" "DPP6(NM_130797.4):c.1711A>C (p.K571Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154853824A>C" "" "benign" "" "0000610997" "0" "30" "7" "154677462" "154677462" "subst" "1.06086E-5" "02327" "DPP6_000049" "g.154677462G>A" "" "" "" "DPP6(NM_130797.4):c.2245+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154885752G>A" "" "likely benign" "" "0000610998" "0" "10" "7" "154681161" "154681161" "del" "0.00215588" "02327" "DPP6_000050" "g.154681161del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154889451del" "" "benign" "" "0000621865" "0" "30" "7" "154564611" "154564611" "subst" "0" "02326" "DPP6_000029" "g.154564611C>T" "" "" "" "DPP6(NM_130797.4):c.1095C>T (p.T365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154772901C>T" "" "likely benign" "" "0000621866" "0" "30" "7" "154645534" "154645534" "subst" "0.00113759" "02325" "DPP6_000048" "g.154645534A>C" "" "" "" "DPP6(NM_130797.4):c.1711A>C (p.K571Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154853824A>C" "" "likely benign" "" "0000678051" "0" "30" "7" "153584810" "153584810" "subst" "0.000187146" "01943" "DPP6_000051" "g.153584810G>A" "" "" "" "DPP6(NM_001039350.2):c.42G>A (p.G14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678052" "0" "10" "7" "153750090" "153750092" "dup" "0" "02327" "DPP6_000024" "g.153750090_153750092dup" "" "" "" "DPP6(NM_130797.4):c.185_187dup (p.(Gly62dup)), DPP6(NM_130797.4):c.185_187dupGCG (p.G62dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000678053" "0" "30" "7" "154379702" "154379702" "subst" "0" "01943" "DPP6_000052" "g.154379702G>A" "" "" "" "DPP6(NM_001290253.1):c.970G>A (p.E324K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678055" "0" "30" "7" "154379758" "154379758" "subst" "0" "01943" "DPP6_000054" "g.154379758C>A" "" "" "" "DPP6(NM_001290253.1):c.1026C>A (p.S342R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689961" "0" "10" "7" "154429560" "154429560" "subst" "0.710878" "02326" "DPP6_000011" "g.154429560C>T" "" "" "" "DPP6(NM_001039350.3):c.465C>T (p.Y155=), DPP6(NM_130797.4):c.657C>T (p.Y219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689962" "0" "10" "7" "154679447" "154679447" "subst" "0.968791" "02326" "DPP6_000015" "g.154679447G>A" "" "" "" "DPP6(NM_001039350.3):c.2112+3G>A, DPP6(NM_130797.4):c.2304+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000694168" "21" "70" "7" "154002640" "154002640" "subst" "0" "00006" "DPP6_000055" "g.154002640A>G" "" "{PMID:Granadillo 2020:32152250}" "" "" "" "Germline" "" "" "0" "" "" "g.154305555A>G" "" "VUS" "" "0000694176" "0" "90" "7" "153649777" "153985995" "del" "0" "00006" "DPP6_000056" "g.(?_153649777)_(153985995_?)del" "" "{PMID:Liao 2013:23832105}" "" "" "336 kb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000694177" "0" "90" "7" "153829386" "154191684" "del" "0" "00006" "DPP6_000057" "g.(?_153829386)_(154191684_?)del" "" "{PMID:Liao 2013:23832105}" "" "" "362 kb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000694178" "21" "90" "7" "154564645" "154564645" "subst" "0" "00006" "DPP6_000045" "g.154564645A>C" "" "{PMID:Liao 2013:23832105}" "" "" "" "Germline" "" "" "0" "" "" "1g.154794095A>C" "" "pathogenic (dominant)" "" "0000694179" "11" "90" "7" "154564645" "154564645" "subst" "0" "00006" "DPP6_000045" "g.154564645A>C" "" "{PMID:Liao 2013:23832105}" "" "" "" "Germline" "" "" "0" "" "" "1g.154794095A>C" "" "pathogenic (dominant)" "" "0000694180" "11" "90" "7" "154564645" "154564645" "subst" "0" "00006" "DPP6_000045" "g.154564645A>C" "" "{PMID:Liao 2013:23832105}" "" "" "" "Germline" "" "" "0" "" "" "1g.154794095A>C" "" "pathogenic (dominant)" "" "0000694181" "0" "90" "7" "154564645" "154564645" "subst" "0" "00006" "DPP6_000045" "g.154564645A>C" "" "{PMID:Liao 2013:23832105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "1g.154794095A>C" "" "pathogenic (dominant)" "" "0000721382" "0" "30" "7" "154461074" "154461074" "subst" "0" "02325" "DPP6_000058" "g.154461074C>A" "" "" "" "DPP6(NM_001936.5):c.499C>A (p.P167T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721383" "0" "30" "7" "154645534" "154645534" "subst" "0.00113759" "01943" "DPP6_000048" "g.154645534A>C" "" "" "" "DPP6(NM_130797.4):c.1711A>C (p.K571Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721384" "0" "30" "7" "154659753" "154659753" "subst" "0" "01943" "DPP6_000059" "g.154659753A>G" "" "" "" "DPP6(NM_130797.4):c.1763A>G (p.D588G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787262" "0" "50" "7" "0" "0" "" "0" "00006" "EZH2_000001" "g.?" "" "{PMID:Ganapathy 2019:31069529}" "" "c.1442A>G (His481Arg)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000803033" "0" "10" "7" "153750019" "153750019" "subst" "0.130822" "02330" "DPP6_000021" "g.153750019C>T" "" "" "" "DPP6(NM_130797.4):c.114C>T (p.G38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803034" "0" "30" "7" "153750045" "153750045" "subst" "0.000232576" "01943" "DPP6_000035" "g.153750045G>T" "" "" "" "DPP6(NM_130797.4):c.140G>T (p.R47L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803035" "0" "30" "7" "153750046" "153750046" "subst" "0.000305281" "01943" "DPP6_000036" "g.153750046G>T" "" "" "" "DPP6(NM_130797.4):c.141G>T (p.R47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803036" "0" "10" "7" "153750049" "153750049" "subst" "0" "02330" "DPP6_000060" "g.153750049G>A" "" "" "" "DPP6(NM_130797.4):c.144G>A (p.A48=, p.(Ala48=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803037" "0" "30" "7" "153750090" "153750092" "del" "0" "02330" "DPP6_000061" "g.153750090_153750092del" "" "" "" "DPP6(NM_130797.4):c.185_187delGCG (p.G62del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803038" "0" "30" "7" "153750131" "153750131" "subst" "0.0278828" "02330" "DPP6_000005" "g.153750131G>A" "" "" "" "DPP6(NM_130797.4):c.226G>A (p.D76N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803039" "0" "30" "7" "153750132" "153750132" "subst" "0" "02330" "DPP6_000040" "g.153750132A>T" "" "" "" "DPP6(NM_130797.4):c.227A>T (p.D76V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803040" "0" "10" "7" "153750161" "153750161" "del" "0.230104" "02330" "DPP6_000062" "g.153750161del" "" "" "" "DPP6(NM_130797.4):c.243+13delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803047" "0" "10" "7" "154379517" "154379517" "subst" "0" "02330" "DPP6_000063" "g.154379517C>T" "" "" "" "DPP6(NM_001290253.2):c.785C>T (p.S262L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803048" "0" "10" "7" "154379739" "154379739" "subst" "0" "02330" "DPP6_000064" "g.154379739C>T" "" "" "" "DPP6(NM_001290253.2):c.1007C>T (p.P336L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803049" "0" "10" "7" "154429560" "154429560" "subst" "0.710878" "02330" "DPP6_000011" "g.154429560C>T" "" "" "" "DPP6(NM_001039350.3):c.465C>T (p.Y155=), DPP6(NM_130797.4):c.657C>T (p.Y219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803050" "0" "10" "7" "154461112" "154461112" "subst" "0.869516" "02330" "DPP6_000001" "g.154461112A>G" "" "" "" "DPP6(NM_001039350.3):c.531A>G (p.K177=), DPP6(NM_130797.4):c.723A>G (p.K241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803051" "0" "10" "7" "154519527" "154519527" "subst" "0.00717439" "02330" "DPP6_000065" "g.154519527G>A" "" "" "" "DPP6(NM_130797.4):c.813G>A (p.Q271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803052" "0" "10" "7" "154519606" "154519606" "subst" "0.00761553" "02330" "DPP6_000066" "g.154519606T>C" "" "" "" "DPP6(NM_130797.4):c.883+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803053" "0" "10" "7" "154561188" "154561188" "subst" "0.0814065" "02330" "DPP6_000067" "g.154561188C>T" "" "" "" "DPP6(NM_130797.4):c.945C>T (p.Y315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803054" "0" "30" "7" "154564608" "154564608" "subst" "1.22132E-5" "02326" "DPP6_000068" "g.154564608C>T" "" "" "" "DPP6(NM_130797.4):c.1092C>T (p.P364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803055" "0" "10" "7" "154587740" "154587740" "subst" "0" "02330" "DPP6_000069" "g.154587740A>G" "" "" "" "DPP6(NM_001364501.2):c.1254A>G (p.P418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803056" "0" "10" "7" "154587793" "154587793" "subst" "0" "02330" "DPP6_000070" "g.154587793A>G" "" "" "" "DPP6(NM_001364501.2):c.1307A>G (p.Q436R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803057" "0" "10" "7" "154593047" "154593047" "subst" "0.020902" "02330" "DPP6_000071" "g.154593047C>A" "" "" "" "DPP6(NM_130797.4):c.1300-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803058" "0" "50" "7" "154659792" "154659792" "subst" "0.00010811" "02330" "DPP6_000072" "g.154659792T>C" "" "" "" "DPP6(NM_130797.4):c.1802T>C (p.I601T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803059" "0" "10" "7" "154667628" "154667628" "subst" "0.527477" "02330" "DPP6_000073" "g.154667628A>G" "" "" "" "DPP6(NM_130797.4):c.1896A>G (p.P632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803060" "0" "10" "7" "154667643" "154667643" "subst" "0.269469" "02330" "DPP6_000074" "g.154667643G>A" "" "" "" "DPP6(NM_130797.4):c.1911G>A (p.V637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803061" "0" "10" "7" "154672587" "154672587" "subst" "0.000942155" "02330" "DPP6_000075" "g.154672587C>T" "" "" "" "DPP6(NM_130797.4):c.2079-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803062" "0" "10" "7" "154672646" "154672646" "subst" "0.237664" "02330" "DPP6_000076" "g.154672646T>C" "" "" "" "DPP6(NM_130797.4):c.2127T>C (p.F709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803063" "0" "10" "7" "154672662" "154672662" "subst" "0.133255" "02330" "DPP6_000077" "g.154672662C>T" "" "" "" "DPP6(NM_130797.4):c.2133+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803064" "0" "10" "7" "154672672" "154672672" "subst" "0.000386833" "02330" "DPP6_000078" "g.154672672G>A" "" "" "" "DPP6(NM_130797.4):c.2133+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803065" "0" "10" "7" "154679447" "154679447" "subst" "0.968791" "02330" "DPP6_000015" "g.154679447G>A" "" "" "" "DPP6(NM_001039350.3):c.2112+3G>A, DPP6(NM_130797.4):c.2304+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803066" "0" "10" "7" "154681050" "154681050" "subst" "0.135283" "02330" "DPP6_000079" "g.154681050C>T" "" "" "" "DPP6(NM_130797.4):c.2373C>T (p.A791=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803067" "0" "10" "7" "154681216" "154681216" "subst" "0.172501" "02330" "DPP6_000080" "g.154681216G>A" "" "" "" "DPP6(NM_130797.4):c.2427G>A (p.R809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803068" "0" "10" "7" "154684153" "154684153" "subst" "0.326575" "02330" "DPP6_000081" "g.154684153T>C" "" "" "" "DPP6(NM_130797.4):c.2561T>C (p.L854P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851547" "0" "30" "7" "153750090" "153750092" "del" "0" "02327" "DPP6_000061" "g.153750090_153750092del" "" "" "" "DPP6(NM_130797.4):c.185_187delGCG (p.G62del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851548" "0" "10" "7" "153750173" "153750173" "dup" "0" "02330" "DPP6_000083" "g.153750173dup" "" "" "" "DPP6(NM_130797.4):c.243+25dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851549" "0" "10" "7" "153750173" "153750173" "dup" "0" "02325" "DPP6_000083" "g.153750173dup" "" "" "" "DPP6(NM_130797.4):c.243+25dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851550" "0" "10" "7" "154237613" "154237613" "subst" "0.00808925" "02330" "DPP6_000084" "g.154237613A>G" "" "" "" "DPP6(NM_130797.4):c.458-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851551" "0" "10" "7" "154378861" "154378861" "subst" "0" "02330" "DPP6_000085" "g.154378861T>C" "" "" "" "DPP6(NM_130797.4):c.628-50670T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851552" "0" "30" "7" "154379570" "154379570" "subst" "0" "02330" "DPP6_000086" "g.154379570C>T" "" "" "" "DPP6(NM_001290253.2):c.838C>T (p.P280S, p.(Pro280Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851553" "0" "10" "7" "154379727" "154379727" "subst" "0" "02330" "DPP6_000042" "g.154379727A>G" "" "" "" "DPP6(NM_001290253.2):c.995A>G (p.H332R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851554" "0" "30" "7" "154379742" "154379742" "subst" "0" "02330" "DPP6_000087" "g.154379742G>T" "" "" "" "DPP6(NM_001290253.2):c.1010G>T (p.G337V, p.(Gly337Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851555" "0" "10" "7" "154561192" "154561192" "subst" "4.87488E-5" "02327" "DPP6_000088" "g.154561192G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851556" "0" "10" "7" "154561258" "154561258" "subst" "0.000646314" "02330" "DPP6_000089" "g.154561258G>T" "" "" "" "DPP6(NM_130797.4):c.1015G>T (p.V339L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851557" "0" "30" "7" "154564602" "154564602" "subst" "0" "02327" "DPP6_000090" "g.154564602T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851558" "0" "30" "7" "154593119" "154593119" "subst" "0" "02327" "DPP6_000091" "g.154593119A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851559" "0" "10" "7" "154677332" "154677332" "subst" "0.00938899" "02330" "DPP6_000092" "g.154677332G>A" "" "" "" "DPP6(NM_130797.4):c.2134-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851560" "0" "10" "7" "154677414" "154677414" "subst" "0.0403426" "02330" "DPP6_000093" "g.154677414C>T" "" "" "" "DPP6(NM_130797.4):c.2205C>T (p.C735=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851561" "0" "10" "7" "154680993" "154680993" "subst" "8.58783E-5" "02330" "DPP6_000094" "g.154680993A>T" "" "" "" "DPP6(NM_130797.4):c.2316A>T (p.V772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851562" "0" "50" "7" "154681027" "154681027" "subst" "8.17047E-6" "02327" "DPP6_000095" "g.154681027T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860709" "0" "10" "7" "153750076" "153750076" "subst" "0" "02330" "DPP6_000082" "g.153750076C>G" "" "" "" "DPP6(NM_130797.4):c.171C>G (p.G57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000881247" "0" "90" "7" "154143298" "154143298" "subst" "0" "02300" "DPP6_000096" "g.154143298G>A" "" "{PMID:Marinakis 2021:34008892}" "" "NM_130797.4:c.244-1G>A" "ACMG PVS1, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.154446213G>A" "" "pathogenic (dominant)" "ACMG" "0000887773" "0" "50" "7" "153584819" "153584819" "subst" "1.62774E-5" "02330" "DPP6_000097" "g.153584819G>T" "" "" "" "DPP6(NM_001039350.3):c.51G>T (p.M17I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887774" "0" "30" "7" "153750087" "153750092" "del" "0" "02327" "DPP6_000023" "g.153750087_153750092del" "" "" "" "DPP6(NM_130797.4):c.182_187delGCGGCG (p.G61_G62del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887775" "0" "30" "7" "153750087" "153750092" "dup" "0" "02330" "DPP6_000098" "g.153750087_153750092dup" "" "" "" "DPP6(NM_130797.4):c.182_187dupGCGGCG (p.G61_G62dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887776" "0" "30" "7" "153750087" "153750092" "dup" "0" "02327" "DPP6_000098" "g.153750087_153750092dup" "" "" "" "DPP6(NM_130797.4):c.182_187dupGCGGCG (p.G61_G62dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887777" "0" "30" "7" "153750121" "153750121" "subst" "0.00044287" "02326" "DPP6_000039" "g.153750121G>A" "" "" "" "DPP6(NM_130797.4):c.216G>A (p.Q72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887778" "0" "30" "7" "153750140" "153750140" "subst" "0" "02330" "DPP6_000006" "g.153750140G>A" "" "" "" "DPP6(NM_130797.4):c.235G>A (p.E79K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887779" "0" "30" "7" "154143424" "154143424" "subst" "0" "02326" "DPP6_000099" "g.154143424C>T" "" "" "" "DPP6(NM_130797.4):c.358+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887781" "0" "30" "7" "154378881" "154378881" "subst" "0" "02330" "DPP6_000100" "g.154378881G>T" "" "" "" "DPP6(NM_001364502.2):c.447G>T (p.Q149H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887782" "0" "30" "7" "154378887" "154378887" "subst" "0" "02330" "DPP6_000101" "g.154378887G>A" "" "" "" "DPP6(NM_001364502.2):c.*3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887783" "0" "30" "7" "154378889" "154378889" "subst" "0" "02330" "DPP6_000102" "g.154378889A>G" "" "" "" "DPP6(NM_001364502.2):c.*5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887784" "0" "30" "7" "154379727" "154379727" "subst" "0" "02326" "DPP6_000042" "g.154379727A>G" "" "" "" "DPP6(NM_001290253.2):c.995A>G (p.H332R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887785" "0" "10" "7" "154429569" "154429569" "subst" "0.0030554" "02330" "DPP6_000012" "g.154429569C>T" "" "" "" "DPP6(NM_130797.4):c.666C>T (p.S222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887786" "0" "10" "7" "154561176" "154561176" "subst" "0.00210816" "02330" "DPP6_000103" "g.154561176G>A" "" "" "" "DPP6(NM_130797.4):c.933G>A (p.T311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887788" "0" "50" "7" "154593165" "154593165" "subst" "0" "02326" "DPP6_000104" "g.154593165C>G" "" "" "" "DPP6(NM_130797.4):c.1400C>G (p.S467W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887789" "0" "10" "7" "154595645" "154595645" "subst" "0.000748917" "02330" "DPP6_000105" "g.154595645C>T" "" "" "" "DPP6(NM_130797.4):c.1479C>T (p.Y493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887790" "0" "30" "7" "154598707" "154598707" "subst" "3.25879E-5" "02326" "DPP6_000106" "g.154598707C>T" "" "" "" "DPP6(NM_130797.4):c.1551C>T (p.A517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887791" "0" "30" "7" "154667673" "154667673" "subst" "0.000110406" "02326" "DPP6_000107" "g.154667673G>A" "" "" "" "DPP6(NM_130797.4):c.1941G>A (p.T647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887792" "0" "30" "7" "154677453" "154677453" "subst" "0" "02327" "DPP6_000108" "g.154677453T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887793" "0" "10" "7" "154679393" "154679393" "subst" "4.87314E-5" "02330" "DPP6_000109" "g.154679393G>A" "" "" "" "DPP6(NM_130797.4):c.2253G>A (p.A751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912702" "0" "10" "7" "153750019" "153750019" "subst" "0.130822" "02329" "DPP6_000021" "g.153750019C>T" "" "" "" "DPP6(NM_130797.4):c.114C>T (p.G38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912703" "0" "30" "7" "153750096" "153750096" "subst" "0" "02330" "DPP6_000025" "g.153750096G>A" "" "" "" "DPP6(NM_130797.4):c.191G>A (p.G64D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912704" "0" "10" "7" "153750161" "153750161" "del" "0.230104" "02329" "DPP6_000062" "g.153750161del" "" "" "" "DPP6(NM_130797.4):c.243+13delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912706" "0" "50" "7" "154379341" "154379341" "subst" "0" "02330" "DPP6_000110" "g.154379341C>T" "" "" "" "DPP6(NM_001364502.2):c.*457C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912707" "0" "30" "7" "154379789" "154379789" "subst" "0" "02330" "DPP6_000111" "g.154379789G>A" "" "" "" "DPP6(NM_001290253.2):c.1057G>A (p.E353K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912708" "0" "10" "7" "154429560" "154429560" "subst" "0.710878" "02329" "DPP6_000011" "g.154429560C>T" "" "" "" "DPP6(NM_001039350.3):c.465C>T (p.Y155=), DPP6(NM_130797.4):c.657C>T (p.Y219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912709" "0" "10" "7" "154461112" "154461112" "subst" "0.869516" "02329" "DPP6_000001" "g.154461112A>G" "" "" "" "DPP6(NM_001039350.3):c.531A>G (p.K177=), DPP6(NM_130797.4):c.723A>G (p.K241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912710" "0" "10" "7" "154593191" "154593191" "subst" "0.000101234" "02330" "DPP6_000112" "g.154593191C>T" "" "" "" "DPP6(NM_130797.4):c.1407+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912711" "0" "10" "7" "154667628" "154667628" "subst" "0.527477" "02329" "DPP6_000073" "g.154667628A>G" "" "" "" "DPP6(NM_130797.4):c.1896A>G (p.P632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912712" "0" "10" "7" "154667643" "154667643" "subst" "0.269469" "02329" "DPP6_000074" "g.154667643G>A" "" "" "" "DPP6(NM_130797.4):c.1911G>A (p.V637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912713" "0" "10" "7" "154667673" "154667673" "subst" "0.000110406" "02330" "DPP6_000107" "g.154667673G>A" "" "" "" "DPP6(NM_130797.4):c.1941G>A (p.T647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912714" "0" "10" "7" "154672646" "154672646" "subst" "0.237664" "02329" "DPP6_000076" "g.154672646T>C" "" "" "" "DPP6(NM_130797.4):c.2127T>C (p.F709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912715" "0" "10" "7" "154672662" "154672662" "subst" "0.133255" "02329" "DPP6_000077" "g.154672662C>T" "" "" "" "DPP6(NM_130797.4):c.2133+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912716" "0" "30" "7" "154677462" "154677462" "subst" "1.06086E-5" "02330" "DPP6_000049" "g.154677462G>A" "" "" "" "DPP6(NM_130797.4):c.2245+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912717" "0" "10" "7" "154679447" "154679447" "subst" "0.968791" "02329" "DPP6_000015" "g.154679447G>A" "" "" "" "DPP6(NM_001039350.3):c.2112+3G>A, DPP6(NM_130797.4):c.2304+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912718" "0" "10" "7" "154681050" "154681050" "subst" "0.135283" "02329" "DPP6_000079" "g.154681050C>T" "" "" "" "DPP6(NM_130797.4):c.2373C>T (p.A791=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912719" "0" "10" "7" "154681160" "154681160" "del" "0" "02325" "DPP6_000113" "g.154681160del" "" "" "" "DPP6(NM_001936.5):c.2192-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912720" "0" "10" "7" "154681216" "154681216" "subst" "0.172501" "02329" "DPP6_000080" "g.154681216G>A" "" "" "" "DPP6(NM_130797.4):c.2427G>A (p.R809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912721" "0" "10" "7" "154684153" "154684153" "subst" "0.326575" "02329" "DPP6_000081" "g.154684153T>C" "" "" "" "DPP6(NM_130797.4):c.2561T>C (p.L854P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924681" "0" "10" "7" "153750096" "153750096" "subst" "0" "02329" "DPP6_000025" "g.153750096G>A" "" "" "" "DPP6(NM_130797.4):c.191G>A (p.G64D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924682" "0" "10" "7" "154379517" "154379517" "subst" "0" "02329" "DPP6_000063" "g.154379517C>T" "" "" "" "DPP6(NM_001290253.2):c.785C>T (p.S262L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924683" "0" "10" "7" "154379739" "154379739" "subst" "0" "02329" "DPP6_000064" "g.154379739C>T" "" "" "" "DPP6(NM_001290253.2):c.1007C>T (p.P336L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924684" "0" "50" "7" "154429580" "154429580" "subst" "0" "02326" "DPP6_000114" "g.154429580A>G" "" "" "" "DPP6(NM_130797.4):c.677A>G (p.H226R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924685" "0" "10" "7" "154561188" "154561188" "subst" "0.0814065" "02329" "DPP6_000067" "g.154561188C>T" "" "" "" "DPP6(NM_130797.4):c.945C>T (p.Y315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924686" "0" "30" "7" "154587611" "154587611" "subst" "0.000132293" "02330" "DPP6_000115" "g.154587611G>A" "" "" "" "DPP6(NM_001364501.2):c.1125G>A (p.P375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924687" "0" "10" "7" "154593047" "154593047" "subst" "0.020902" "02329" "DPP6_000071" "g.154593047C>A" "" "" "" "DPP6(NM_130797.4):c.1300-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924688" "0" "50" "7" "154596661" "154596661" "subst" "0" "02327" "DPP6_000116" "g.154596661C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924689" "0" "30" "7" "154645534" "154645534" "subst" "0.00113759" "02330" "DPP6_000048" "g.154645534A>C" "" "" "" "DPP6(NM_130797.4):c.1711A>C (p.K571Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924690" "0" "10" "7" "154677332" "154677332" "subst" "0.00938899" "02329" "DPP6_000092" "g.154677332G>A" "" "" "" "DPP6(NM_130797.4):c.2134-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924691" "0" "10" "7" "154677414" "154677414" "subst" "0.0403426" "02329" "DPP6_000093" "g.154677414C>T" "" "" "" "DPP6(NM_130797.4):c.2205C>T (p.C735=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929314" "0" "30" "7" "154002421" "154002422" "ins" "0" "02326" "DPP6_000117" "g.154002421_154002422insT" "" "" "" "DPP6(NR_157196.2):n.178_179insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929315" "0" "10" "7" "154237613" "154237613" "subst" "0.00808925" "02329" "DPP6_000084" "g.154237613A>G" "" "" "" "DPP6(NM_130797.4):c.458-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929317" "0" "10" "7" "154519527" "154519527" "subst" "0.00717439" "02329" "DPP6_000065" "g.154519527G>A" "" "" "" "DPP6(NM_130797.4):c.813G>A (p.Q271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929318" "0" "10" "7" "154519606" "154519606" "subst" "0.00761553" "02329" "DPP6_000066" "g.154519606T>C" "" "" "" "DPP6(NM_130797.4):c.883+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929319" "0" "30" "7" "154595624" "154595624" "subst" "0.000361874" "02325" "DPP6_000046" "g.154595624C>T" "" "" "" "DPP6(NM_001936.5):c.1272C>T (p.D424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929320" "0" "30" "7" "154672601" "154672601" "subst" "0.00066599" "02330" "DPP6_000118" "g.154672601G>A" "" "" "" "DPP6(NM_130797.4):c.2082G>A (p.T694=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948892" "0" "10" "7" "153749932" "153749932" "subst" "0.000283539" "02330" "DPP6_000119" "g.153749932T>C" "" "" "" "DPP6(NM_130797.4):c.27T>C (p.T9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948893" "0" "70" "7" "154002240" "154002240" "subst" "0" "02327" "DPP6_000002" "g.154002240C>T" "" "" "" "DPP6(NM_130797.4):c.244-141059C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948894" "0" "10" "7" "154143385" "154143385" "subst" "0" "02330" "DPP6_000120" "g.154143385C>T" "" "" "" "DPP6(NM_130797.4):c.330C>T (p.I110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948895" "0" "10" "7" "154519612" "154519612" "subst" "0.000552301" "02330" "DPP6_000121" "g.154519612G>A" "" "" "" "DPP6(NM_130797.4):c.883+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948896" "0" "30" "7" "154587772" "154587772" "subst" "0" "02330" "DPP6_000122" "g.154587772C>G" "" "" "" "DPP6(NM_001364501.2):c.1286C>G (p.P429R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948897" "0" "10" "7" "154667692" "154667692" "subst" "0.0018425" "02330" "DPP6_000123" "g.154667692G>A" "" "" "" "DPP6(NM_130797.4):c.1960G>A (p.G654S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964528" "0" "30" "7" "153750045" "153750045" "subst" "0.000232576" "02330" "DPP6_000035" "g.153750045G>T" "" "" "" "DPP6(NM_130797.4):c.140G>T (p.R47L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964530" "0" "30" "7" "154002603" "154002603" "subst" "0" "02326" "DPP6_000124" "g.154002603C>T" "" "" "" "DPP6(NM_001936.5):c.24C>T (p.S8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964531" "0" "10" "7" "154379725" "154379725" "subst" "0" "02330" "DPP6_000125" "g.154379725G>A" "" "" "" "DPP6(NM_001290253.2):c.993G>A (p.S331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964532" "0" "30" "7" "154596685" "154596685" "subst" "0" "02330" "DPP6_000126" "g.154596685C>T" "" "" "" "DPP6(NM_130797.4):c.1547+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977631" "0" "10" "7" "154684070" "154684070" "subst" "0" "02330" "DPP6_000127" "g.154684070T>C" "" "" "" "DPP6(NM_130797.4):c.2478T>C (p.F826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000996365" "0" "50" "7" "154561237" "154561237" "subst" "0" "01804" "DPP6_000128" "g.154561237A>G" "" "" "" "DPP6(NM_001039350.1):c.802A>G (p.(Thr268Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996366" "0" "10" "7" "154595554" "154595554" "subst" "0.00235994" "02330" "DPP6_000129" "g.154595554G>T" "" "" "" "DPP6(NM_130797.4):c.1408-20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000996367" "0" "50" "7" "154595589" "154595591" "del" "0" "01804" "DPP6_000130" "g.154595589_154595591del" "" "" "" "DPP6(NM_001039350.1):c.1231_1233delGAC (p.(Asp411del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996368" "0" "30" "7" "154680982" "154680982" "subst" "0" "01804" "DPP6_000131" "g.154680982A>G" "" "" "" "DPP6(NM_001039350.1):c.2113A>G (p.(Met705Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996369" "0" "10" "7" "154681009" "154681009" "subst" "0.0015315" "02330" "DPP6_000132" "g.154681009G>A" "" "" "" "DPP6(NM_130797.4):c.2332G>A (p.A778T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000996370" "0" "10" "7" "154684172" "154684172" "subst" "0.000584852" "02330" "DPP6_000133" "g.154684172G>A" "" "" "" "DPP6(NM_130797.4):c.2580G>A (p.E860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014330" "0" "50" "7" "153749963" "153749963" "subst" "0" "02326" "DPP6_000134" "g.153749963G>A" "" "" "" "DPP6(NM_130797.4):c.58G>A (p.A20T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014331" "0" "10" "7" "153750049" "153750049" "subst" "0" "02329" "DPP6_000060" "g.153750049G>A" "" "" "" "DPP6(NM_130797.4):c.144G>A (p.A48=, p.(Ala48=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014332" "0" "10" "7" "153750131" "153750131" "subst" "0.0278828" "02329" "DPP6_000005" "g.153750131G>A" "" "" "" "DPP6(NM_130797.4):c.226G>A (p.D76N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014333" "0" "50" "7" "154561150" "154561150" "subst" "6.09593E-5" "02330" "DPP6_000135" "g.154561150G>A" "" "" "" "DPP6(NM_130797.4):c.907G>A (p.A303T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025367" "0" "30" "7" "153750090" "153750092" "dup" "0" "02330" "DPP6_000024" "g.153750090_153750092dup" "" "" "" "DPP6(NM_130797.4):c.185_187dup (p.(Gly62dup)), DPP6(NM_130797.4):c.185_187dupGCG (p.G62dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025368" "0" "30" "7" "154237598" "154237598" "subst" "4.40195E-6" "02330" "DPP6_000136" "g.154237598T>C" "" "" "" "DPP6(NM_130797.4):c.458-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025369" "0" "30" "7" "154379570" "154379570" "subst" "0" "02329" "DPP6_000086" "g.154379570C>T" "" "" "" "DPP6(NM_001290253.2):c.838C>T (p.P280S, p.(Pro280Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025370" "0" "30" "7" "154379742" "154379742" "subst" "0" "02329" "DPP6_000087" "g.154379742G>T" "" "" "" "DPP6(NM_001290253.2):c.1010G>T (p.G337V, p.(Gly337Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025371" "0" "30" "7" "154585901" "154585901" "subst" "0.000158653" "02325" "DPP6_000137" "g.154585901G>A" "" "" "" "DPP6(NM_001936.5):c.1063G>A (p.V355I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036273" "0" "30" "7" "154379570" "154379570" "subst" "0" "01804" "DPP6_000086" "g.154379570C>T" "" "" "" "DPP6(NM_001290253.2):c.838C>T (p.P280S, p.(Pro280Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036274" "0" "30" "7" "154379688" "154379688" "subst" "0" "01804" "DPP6_000138" "g.154379688G>A" "" "" "" "DPP6(NM_001290253.2):c.956G>A (p.(Cys319Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036275" "0" "30" "7" "154379742" "154379742" "subst" "0" "01804" "DPP6_000087" "g.154379742G>T" "" "" "" "DPP6(NM_001290253.2):c.1010G>T (p.G337V, p.(Gly337Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036276" "0" "50" "7" "154587733" "154587733" "subst" "0" "01804" "DPP6_000139" "g.154587733C>T" "" "" "" "DPP6(NM_001364501.2):c.1247C>T (p.(Pro416Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036277" "0" "50" "7" "154645537" "154645537" "del" "0" "01804" "DPP6_000140" "g.154645537del" "" "" "" "DPP6(NM_130797.4):c.1714del (p.(Met573Cysfs*4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052912" "0" "30" "7" "153750049" "153750049" "subst" "0" "01804" "DPP6_000060" "g.153750049G>A" "" "" "" "DPP6(NM_130797.4):c.144G>A (p.A48=, p.(Ala48=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052913" "0" "30" "7" "153750090" "153750092" "dup" "0" "01804" "DPP6_000024" "g.153750090_153750092dup" "" "" "" "DPP6(NM_130797.4):c.185_187dup (p.(Gly62dup)), DPP6(NM_130797.4):c.185_187dupGCG (p.G62dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052914" "0" "50" "7" "153750102" "153750102" "subst" "0" "01804" "DPP6_000141" "g.153750102G>C" "" "" "" "DPP6(NM_130797.4):c.197G>C (p.(Arg66Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052915" "0" "30" "7" "154570775" "154570776" "dup" "0" "01804" "DPP6_000142" "g.154570775_154570776dup" "" "" "" "DPP6(NM_130797.4):c.1136+6123_1136+6124dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052916" "0" "30" "7" "154570787" "154570787" "subst" "0" "01804" "DPP6_000143" "g.154570787C>T" "" "" "" "DPP6(NM_130797.4):c.1136+6135C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064869" "0" "50" "7" "154379784" "154379784" "subst" "0" "02325" "DPP6_000144" "g.154379784C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064870" "0" "30" "7" "154645496" "154645496" "subst" "0" "02325" "DPP6_000145" "g.154645496G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064871" "0" "50" "7" "154667614" "154667614" "subst" "0" "02325" "DPP6_000146" "g.154667614A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DPP6 ## Count = 218 "{{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}}" "0000012551" "00025429" "00" "1690" "22775" "1690" "22775" "c.1690+22775C>A" "" "" "" "0000012551" "00023899" "00" "1504" "22775" "1504" "22775" "c.1504+22775C>A" "" "" "" "0000023124" "00025429" "00" "747" "0" "747" "0" "c.747A>G" "" "" "" "0000023124" "00023899" "35" "770" "0" "770" "0" "c.770A>G" "r.=" "p.=" "7" "0000023125" "00025429" "00" "244" "-141059" "244" "-141059" "c.244-141059C>T" "r.(=)" "p.(=)" "" "0000023125" "00023899" "75" "-340" "0" "-340" "0" "c.-340C>T" "r.=[22]" "p.=[22]" "_1" "0000040017" "00023899" "90" "-478439" "0" "-343105" "0" "c.(-502629_-478439)_(-343105_-332132)del" "r.0" "p.0" "_1_26_" "0000096532" "00025429" "50" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Ala655Val)" "20" "0000248592" "00025429" "10" "723" "0" "723" "0" "c.723A>G" "r.(?)" "p.(=)" "" "0000265442" "00025429" "30" "244" "-141057" "244" "-141057" "c.244-141057T>A" "r.(=)" "p.(=)" "" "0000265443" "00025429" "90" "244" "-141059" "244" "-141059" "c.244-141059C>T" "r.(=)" "p.(=)" "" "0000265444" "00025429" "30" "244" "-141075" "244" "-141075" "c.244-141075G>A" "r.(=)" "p.(=)" "" "0000267510" "00025429" "10" "2304" "3" "2304" "3" "c.2304+3G>A" "r.spl?" "p.?" "" "0000267511" "00025429" "10" "657" "0" "657" "0" "c.657C>T" "r.(?)" "p.(=)" "" "0000267512" "00025429" "30" "666" "0" "666" "0" "c.666C>T" "r.(?)" "p.(=)" "" "0000275499" "00025429" "50" "1442" "0" "1442" "0" "c.1442C>T" "r.(?)" "p.(Thr481Ile)" "" "0000275500" "00025429" "30" "1963" "0" "1963" "0" "c.1963G>A" "r.(?)" "p.(Ala655Thr)" "" "0000275501" "00025429" "10" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Asp76Asn)" "" "0000275502" "00025429" "30" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Glu79Lys)" "" "0000275503" "00025429" "30" "628" "-50108" "628" "-50108" "c.628-50108G>A" "r.(=)" "p.(=)" "" "0000275504" "00025429" "30" "628" "-49885" "628" "-49885" "c.628-49885C>T" "r.(=)" "p.(=)" "" "0000344967" "00025429" "30" "2347" "0" "2347" "0" "c.2347C>T" "r.(?)" "p.(Gln783*)" "" "0000442541" "00025429" "70" "782" "0" "782" "0" "c.782A>G" "r.(?)" "p.(Asn261Ser)" "" "0000442541" "00023899" "70" "596" "0" "596" "0" "c.596A>G" "r.(?)" "p.(Asn199Ser)" "" "0000531463" "00025429" "10" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(=)" "" "0000531464" "00025429" "30" "140" "0" "141" "0" "c.140_141delinsTT" "r.(?)" "p.(Arg47Leu)" "" "0000531465" "00025429" "50" "182" "0" "187" "0" "c.182_187del" "r.(?)" "p.(Gly61_Gly62del)" "" "0000531466" "00025429" "30" "185" "0" "187" "0" "c.185_187dup" "r.(?)" "p.(Gly62dup)" "" "0000531467" "00025429" "30" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Gly64Asp)" "" "0000531471" "00025429" "90" "244" "-141059" "244" "-141059" "c.244-141059C>T" "r.(=)" "p.(=)" "" "0000531472" "00025429" "30" "359" "-4" "359" "-4" "c.359-4C>T" "r.spl?" "p.?" "" "0000531472" "00023899" "30" "173" "-4" "173" "-4" "c.173-4C>T" "r.spl?" "p.?" "" "0000531476" "00025429" "30" "628" "-49875" "628" "-49875" "c.628-49875C>T" "r.(=)" "p.(=)" "" "0000531477" "00025429" "10" "723" "0" "723" "0" "c.723A>G" "r.(?)" "p.(=)" "" "0000531479" "00025429" "30" "1095" "0" "1095" "0" "c.1095C>T" "r.(?)" "p.(=)" "" "0000531480" "00025429" "30" "1392" "0" "1392" "0" "c.1392G>A" "r.(?)" "p.(=)" "" "0000531481" "00025429" "30" "1620" "0" "1620" "0" "c.1620C>T" "r.(?)" "p.(=)" "" "0000531482" "00025429" "30" "2134" "-5" "2134" "-5" "c.2134-5T>G" "r.spl?" "p.?" "" "0000610981" "00025429" "30" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Ser)" "" "0000610982" "00025429" "50" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Arg)" "" "0000610983" "00025429" "30" "140" "0" "140" "0" "c.140G>T" "r.(?)" "p.(Arg47Leu)" "" "0000610984" "00025429" "30" "141" "0" "141" "0" "c.141G>T" "r.(?)" "p.(=)" "" "0000610985" "00025429" "30" "179" "0" "187" "0" "c.179_187del" "r.(?)" "p.(Gly60_Gly62del)" "" "0000610986" "00025429" "30" "203" "0" "203" "0" "c.203G>A" "r.(?)" "p.(Arg68Gln)" "" "0000610987" "00025429" "30" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(=)" "" "0000610988" "00025429" "10" "227" "0" "227" "0" "c.227A>T" "r.(?)" "p.(Asp76Val)" "" "0000610989" "00025429" "30" "628" "-49975" "628" "-49975" "c.628-49975A>G" "r.(=)" "p.(=)" "" "0000610990" "00025429" "10" "628" "-49804" "628" "-49804" "c.628-49804A>G" "r.(=)" "p.(=)" "" "0000610991" "00025429" "30" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Gly269Arg)" "" "0000610992" "00025429" "30" "948" "0" "948" "0" "c.948C>T" "r.(?)" "p.(=)" "" "0000610993" "00025429" "50" "1153" "0" "1153" "0" "c.1153A>C" "r.(?)" "p.(Met385Leu)" "" "0000610994" "00025429" "30" "1458" "0" "1458" "0" "c.1458C>T" "r.(?)" "p.(=)" "" "0000610995" "00025429" "50" "1578" "0" "1578" "0" "c.1578G>C" "r.(?)" "p.(Gln526His)" "" "0000610996" "00025429" "10" "1711" "0" "1711" "0" "c.1711A>C" "r.(?)" "p.(Lys571Gln)" "" "0000610997" "00025429" "30" "2245" "8" "2245" "8" "c.2245+8G>A" "r.(=)" "p.(=)" "" "0000610998" "00025429" "10" "2378" "-6" "2378" "-6" "c.2378-6del" "r.(=)" "p.(=)" "" "0000621865" "00025429" "30" "1095" "0" "1095" "0" "c.1095C>T" "r.(?)" "p.(=)" "" "0000621866" "00025429" "30" "1711" "0" "1711" "0" "c.1711A>C" "r.(?)" "p.(Lys571Gln)" "" "0000678051" "00025429" "30" "-165096" "0" "-165096" "0" "c.-165096G>A" "r.(?)" "p.(=)" "" "0000678052" "00025429" "10" "185" "0" "187" "0" "c.185_187dup" "r.(?)" "p.(Gly62dup)" "" "0000678053" "00025429" "30" "628" "-49829" "628" "-49829" "c.628-49829G>A" "r.(=)" "p.(=)" "" "0000678055" "00025429" "30" "628" "-49773" "628" "-49773" "c.628-49773C>A" "r.(=)" "p.(=)" "" "0000689961" "00025429" "10" "657" "0" "657" "0" "c.657C>T" "r.(?)" "p.(=)" "" "0000689962" "00025429" "10" "2304" "3" "2304" "3" "c.2304+3G>A" "r.spl?" "p.?" "" "0000694168" "00025429" "70" "244" "-140659" "244" "-140659" "c.244-140659A>G" "r.?" "p.?" "" "0000694168" "00023899" "70" "57" "4" "57" "4" "c.57+4A>G" "r.spl?" "p.?" "" "0000694176" "00025429" "90" "0" "0" "0" "0" "c.-129_(244-157304_?){0}" "r.0?" "p.0?" "" "0000694177" "00025429" "90" "243" "79238" "457" "19562" "c.(?_243+79238)_(457+19562_?)del" "r.spl" "p.?" "" "0000694178" "00025429" "90" "1153" "0" "1153" "0" "c.1153A>C" "r.(?)" "p.(Met385Leu)" "" "0000694179" "00025429" "90" "1153" "0" "1153" "0" "c.1153A>C" "r.(?)" "p.(Met385Leu)" "" "0000694180" "00025429" "90" "1153" "0" "1153" "0" "c.1153A>C" "r.(?)" "p.(Met385Leu)" "" "0000694181" "00025429" "90" "1153" "0" "1153" "0" "c.1153A>C" "r.(?)" "p.(Met385Leu)" "" "0000721382" "00025429" "30" "685" "0" "685" "0" "c.685C>A" "r.(?)" "p.(Pro229Thr)" "" "0000721383" "00025429" "30" "1711" "0" "1711" "0" "c.1711A>C" "r.(?)" "p.(Lys571Gln)" "" "0000721384" "00025429" "30" "1763" "0" "1763" "0" "c.1763A>G" "r.(?)" "p.(Asp588Gly)" "" "0000787262" "00023899" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "16" "0000803033" "00025429" "10" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(=)" "" "0000803034" "00025429" "30" "140" "0" "140" "0" "c.140G>T" "r.(?)" "p.(Arg47Leu)" "" "0000803035" "00025429" "30" "141" "0" "141" "0" "c.141G>T" "r.(?)" "p.(=)" "" "0000803036" "00025429" "10" "144" "0" "144" "0" "c.144G>A" "r.(?)" "p.(=)" "" "0000803037" "00025429" "30" "185" "0" "187" "0" "c.185_187del" "r.(?)" "p.(Gly62del)" "" "0000803038" "00025429" "30" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Asp76Asn)" "" "0000803039" "00025429" "30" "227" "0" "227" "0" "c.227A>T" "r.(?)" "p.(Asp76Val)" "" "0000803040" "00025429" "10" "243" "13" "243" "13" "c.243+13del" "r.(=)" "p.(=)" "" "0000803047" "00025429" "10" "628" "-50014" "628" "-50014" "c.628-50014C>T" "r.(=)" "p.(=)" "" "0000803048" "00025429" "10" "628" "-49792" "628" "-49792" "c.628-49792C>T" "r.(=)" "p.(=)" "" "0000803049" "00025429" "10" "657" "0" "657" "0" "c.657C>T" "r.(?)" "p.(=)" "" "0000803050" "00025429" "10" "723" "0" "723" "0" "c.723A>G" "r.(?)" "p.(=)" "" "0000803051" "00025429" "10" "813" "0" "813" "0" "c.813G>A" "r.(?)" "p.(=)" "" "0000803052" "00025429" "10" "883" "9" "883" "9" "c.883+9T>C" "r.(=)" "p.(=)" "" "0000803053" "00025429" "10" "945" "0" "945" "0" "c.945C>T" "r.(?)" "p.(=)" "" "0000803054" "00025429" "30" "1092" "0" "1092" "0" "c.1092C>T" "r.(?)" "p.(=)" "" "0000803055" "00025429" "10" "1299" "147" "1299" "147" "c.1299+147A>G" "r.(=)" "p.(=)" "" "0000803056" "00025429" "10" "1299" "200" "1299" "200" "c.1299+200A>G" "r.(=)" "p.(=)" "" "0000803057" "00025429" "10" "1300" "-18" "1300" "-18" "c.1300-18C>A" "r.(=)" "p.(=)" "" "0000803058" "00025429" "50" "1802" "0" "1802" "0" "c.1802T>C" "r.(?)" "p.(Ile601Thr)" "" "0000803059" "00025429" "10" "1896" "0" "1896" "0" "c.1896A>G" "r.(?)" "p.(=)" "" "0000803060" "00025429" "10" "1911" "0" "1911" "0" "c.1911G>A" "r.(?)" "p.(=)" "" "0000803061" "00025429" "10" "2079" "-11" "2079" "-11" "c.2079-11C>T" "r.(=)" "p.(=)" "" "0000803062" "00025429" "10" "2127" "0" "2127" "0" "c.2127T>C" "r.(?)" "p.(=)" "" "0000803063" "00025429" "10" "2133" "10" "2133" "10" "c.2133+10C>T" "r.(=)" "p.(=)" "" "0000803064" "00025429" "10" "2133" "20" "2133" "20" "c.2133+20G>A" "r.(=)" "p.(=)" "" "0000803065" "00025429" "10" "2304" "3" "2304" "3" "c.2304+3G>A" "r.spl?" "p.?" "" "0000803066" "00025429" "10" "2373" "0" "2373" "0" "c.2373C>T" "r.(?)" "p.(=)" "" "0000803067" "00025429" "10" "2427" "0" "2427" "0" "c.2427G>A" "r.(?)" "p.(=)" "" "0000803068" "00025429" "10" "2561" "0" "2561" "0" "c.2561T>C" "r.(?)" "p.(Leu854Pro)" "" "0000851547" "00025429" "30" "185" "0" "187" "0" "c.185_187del" "r.(?)" "p.(Gly62del)" "" "0000851548" "00025429" "10" "243" "25" "243" "25" "c.243+25dup" "r.(=)" "p.(=)" "" "0000851549" "00025429" "10" "243" "25" "243" "25" "c.243+25dup" "r.(=)" "p.(=)" "" "0000851550" "00025429" "10" "458" "-4" "458" "-4" "c.458-4A>G" "r.spl?" "p.?" "" "0000851551" "00025429" "10" "628" "-50670" "628" "-50670" "c.628-50670T>C" "r.(=)" "p.(=)" "" "0000851552" "00025429" "30" "628" "-49961" "628" "-49961" "c.628-49961C>T" "r.(=)" "p.(=)" "" "0000851553" "00025429" "10" "628" "-49804" "628" "-49804" "c.628-49804A>G" "r.(=)" "p.(=)" "" "0000851554" "00025429" "30" "628" "-49789" "628" "-49789" "c.628-49789G>T" "r.(=)" "p.(=)" "" "0000851555" "00025429" "10" "949" "0" "949" "0" "c.949G>A" "r.(?)" "p.(Ala317Thr)" "" "0000851556" "00025429" "10" "1015" "0" "1015" "0" "c.1015G>T" "r.(?)" "p.(Val339Leu)" "" "0000851557" "00025429" "30" "1086" "0" "1086" "0" "c.1086T>C" "r.(?)" "p.(=)" "" "0000851558" "00025429" "30" "1354" "0" "1354" "0" "c.1354A>G" "r.(?)" "p.(Ile452Val)" "" "0000851559" "00025429" "10" "2134" "-11" "2134" "-11" "c.2134-11G>A" "r.(=)" "p.(=)" "" "0000851560" "00025429" "10" "2205" "0" "2205" "0" "c.2205C>T" "r.(?)" "p.(=)" "" "0000851561" "00025429" "10" "2316" "0" "2316" "0" "c.2316A>T" "r.(?)" "p.(=)" "" "0000851562" "00025429" "50" "2350" "0" "2350" "0" "c.2350T>A" "r.(?)" "p.(Phe784Ile)" "" "0000860709" "00025429" "10" "171" "0" "171" "0" "c.171C>G" "r.(?)" "p.(=)" "" "0000881247" "00023899" "90" "58" "-1" "58" "-1" "c.58-1G>A" "r.spl" "p.?" "" "0000887773" "00025429" "50" "-165087" "0" "-165087" "0" "c.-165087G>T" "r.(?)" "p.(=)" "" "0000887774" "00025429" "30" "182" "0" "187" "0" "c.182_187del" "r.(?)" "p.(Gly61_Gly62del)" "" "0000887775" "00025429" "30" "182" "0" "187" "0" "c.182_187dup" "r.(?)" "p.(Gly61_Gly62dup)" "" "0000887776" "00025429" "30" "182" "0" "187" "0" "c.182_187dup" "r.(?)" "p.(Gly61_Gly62dup)" "" "0000887777" "00025429" "30" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(=)" "" "0000887778" "00025429" "30" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Glu79Lys)" "" "0000887779" "00025429" "30" "358" "11" "358" "11" "c.358+11C>T" "r.(=)" "p.(=)" "" "0000887781" "00025429" "30" "628" "-50650" "628" "-50650" "c.628-50650G>T" "r.(=)" "p.(=)" "" "0000887782" "00025429" "30" "628" "-50644" "628" "-50644" "c.628-50644G>A" "r.(=)" "p.(=)" "" "0000887783" "00025429" "30" "628" "-50642" "628" "-50642" "c.628-50642A>G" "r.(=)" "p.(=)" "" "0000887784" "00025429" "30" "628" "-49804" "628" "-49804" "c.628-49804A>G" "r.(=)" "p.(=)" "" "0000887785" "00025429" "10" "666" "0" "666" "0" "c.666C>T" "r.(?)" "p.(=)" "" "0000887786" "00025429" "10" "933" "0" "933" "0" "c.933G>A" "r.(?)" "p.(=)" "" "0000887788" "00025429" "50" "1400" "0" "1400" "0" "c.1400C>G" "r.(?)" "p.(Ser467Trp)" "" "0000887789" "00025429" "10" "1479" "0" "1479" "0" "c.1479C>T" "r.(?)" "p.(=)" "" "0000887790" "00025429" "30" "1551" "0" "1551" "0" "c.1551C>T" "r.(?)" "p.(=)" "" "0000887791" "00025429" "30" "1941" "0" "1941" "0" "c.1941G>A" "r.(?)" "p.(=)" "" "0000887792" "00025429" "30" "2244" "0" "2244" "0" "c.2244T>C" "r.(?)" "p.(=)" "" "0000887793" "00025429" "10" "2253" "0" "2253" "0" "c.2253G>A" "r.(?)" "p.(=)" "" "0000912702" "00025429" "10" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(=)" "" "0000912703" "00025429" "30" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Gly64Asp)" "" "0000912704" "00025429" "10" "243" "13" "243" "13" "c.243+13del" "r.(=)" "p.(=)" "" "0000912706" "00025429" "50" "628" "-50190" "628" "-50190" "c.628-50190C>T" "r.(=)" "p.(=)" "" "0000912707" "00025429" "30" "628" "-49742" "628" "-49742" "c.628-49742G>A" "r.(=)" "p.(=)" "" "0000912708" "00025429" "10" "657" "0" "657" "0" "c.657C>T" "r.(?)" "p.(=)" "" "0000912709" "00025429" "10" "723" "0" "723" "0" "c.723A>G" "r.(?)" "p.(=)" "" "0000912710" "00025429" "10" "1407" "19" "1407" "19" "c.1407+19C>T" "r.(=)" "p.(=)" "" "0000912711" "00025429" "10" "1896" "0" "1896" "0" "c.1896A>G" "r.(?)" "p.(=)" "" "0000912712" "00025429" "10" "1911" "0" "1911" "0" "c.1911G>A" "r.(?)" "p.(=)" "" "0000912713" "00025429" "10" "1941" "0" "1941" "0" "c.1941G>A" "r.(?)" "p.(=)" "" "0000912714" "00025429" "10" "2127" "0" "2127" "0" "c.2127T>C" "r.(?)" "p.(=)" "" "0000912715" "00025429" "10" "2133" "10" "2133" "10" "c.2133+10C>T" "r.(=)" "p.(=)" "" "0000912716" "00025429" "30" "2245" "8" "2245" "8" "c.2245+8G>A" "r.(=)" "p.(=)" "" "0000912717" "00025429" "10" "2304" "3" "2304" "3" "c.2304+3G>A" "r.spl?" "p.?" "" "0000912718" "00025429" "10" "2373" "0" "2373" "0" "c.2373C>T" "r.(?)" "p.(=)" "" "0000912719" "00025429" "10" "2378" "-7" "2378" "-7" "c.2378-7del" "r.(=)" "p.(=)" "" "0000912720" "00025429" "10" "2427" "0" "2427" "0" "c.2427G>A" "r.(?)" "p.(=)" "" "0000912721" "00025429" "10" "2561" "0" "2561" "0" "c.2561T>C" "r.(?)" "p.(Leu854Pro)" "" "0000924681" "00025429" "10" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Gly64Asp)" "" "0000924682" "00025429" "10" "628" "-50014" "628" "-50014" "c.628-50014C>T" "r.(=)" "p.(=)" "" "0000924683" "00025429" "10" "628" "-49792" "628" "-49792" "c.628-49792C>T" "r.(=)" "p.(=)" "" "0000924684" "00025429" "50" "677" "0" "677" "0" "c.677A>G" "r.(?)" "p.(His226Arg)" "" "0000924685" "00025429" "10" "945" "0" "945" "0" "c.945C>T" "r.(?)" "p.(=)" "" "0000924686" "00025429" "30" "1299" "18" "1299" "18" "c.1299+18G>A" "r.(=)" "p.(=)" "" "0000924687" "00025429" "10" "1300" "-18" "1300" "-18" "c.1300-18C>A" "r.(=)" "p.(=)" "" "0000924688" "00025429" "50" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512*)" "" "0000924689" "00025429" "30" "1711" "0" "1711" "0" "c.1711A>C" "r.(?)" "p.(Lys571Gln)" "" "0000924690" "00025429" "10" "2134" "-11" "2134" "-11" "c.2134-11G>A" "r.(=)" "p.(=)" "" "0000924691" "00025429" "10" "2205" "0" "2205" "0" "c.2205C>T" "r.(?)" "p.(=)" "" "0000929314" "00025429" "30" "244" "-140878" "244" "-140877" "c.244-140878_244-140877insT" "r.(=)" "p.(=)" "" "0000929315" "00025429" "10" "458" "-4" "458" "-4" "c.458-4A>G" "r.spl?" "p.?" "" "0000929317" "00025429" "10" "813" "0" "813" "0" "c.813G>A" "r.(?)" "p.(=)" "" "0000929318" "00025429" "10" "883" "9" "883" "9" "c.883+9T>C" "r.(=)" "p.(=)" "" "0000929319" "00025429" "30" "1458" "0" "1458" "0" "c.1458C>T" "r.(?)" "p.(=)" "" "0000929320" "00025429" "30" "2082" "0" "2082" "0" "c.2082G>A" "r.(?)" "p.(=)" "" "0000948892" "00025429" "10" "27" "0" "27" "0" "c.27T>C" "r.(?)" "p.(=)" "" "0000948893" "00025429" "70" "244" "-141059" "244" "-141059" "c.244-141059C>T" "r.(=)" "p.(=)" "" "0000948894" "00025429" "10" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(=)" "" "0000948895" "00025429" "10" "883" "15" "883" "15" "c.883+15G>A" "r.(=)" "p.(=)" "" "0000948896" "00025429" "30" "1299" "179" "1299" "179" "c.1299+179C>G" "r.(=)" "p.(=)" "" "0000948897" "00025429" "10" "1960" "0" "1960" "0" "c.1960G>A" "r.(?)" "p.(Gly654Ser)" "" "0000964528" "00025429" "30" "140" "0" "140" "0" "c.140G>T" "r.(?)" "p.(Arg47Leu)" "" "0000964530" "00025429" "30" "244" "-140696" "244" "-140696" "c.244-140696C>T" "r.(=)" "p.(=)" "" "0000964531" "00025429" "10" "628" "-49806" "628" "-49806" "c.628-49806G>A" "r.(=)" "p.(=)" "" "0000964532" "00025429" "30" "1547" "11" "1547" "11" "c.1547+11C>T" "r.(=)" "p.(=)" "" "0000977631" "00025429" "10" "2478" "0" "2478" "0" "c.2478T>C" "r.(?)" "p.(=)" "" "0000996365" "00025429" "50" "994" "0" "994" "0" "c.994A>G" "r.(?)" "p.(Thr332Ala)" "" "0000996366" "00025429" "10" "1408" "-20" "1408" "-20" "c.1408-20G>T" "r.(=)" "p.(=)" "" "0000996367" "00025429" "50" "1423" "0" "1425" "0" "c.1423_1425del" "r.(?)" "p.(Asp475del)" "" "0000996368" "00025429" "30" "2305" "0" "2305" "0" "c.2305A>G" "r.(?)" "p.(Met769Val)" "" "0000996369" "00025429" "10" "2332" "0" "2332" "0" "c.2332G>A" "r.(?)" "p.(Ala778Thr)" "" "0000996370" "00025429" "10" "2580" "0" "2580" "0" "c.2580G>A" "r.(?)" "p.(=)" "" "0001014330" "00025429" "50" "58" "0" "58" "0" "c.58G>A" "r.(?)" "p.(Ala20Thr)" "" "0001014331" "00025429" "10" "144" "0" "144" "0" "c.144G>A" "r.(?)" "p.(=)" "" "0001014332" "00025429" "10" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Asp76Asn)" "" "0001014333" "00025429" "50" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Ala303Thr)" "" "0001025367" "00025429" "30" "185" "0" "187" "0" "c.185_187dup" "r.(?)" "p.(Gly62dup)" "" "0001025368" "00025429" "30" "458" "-19" "458" "-19" "c.458-19T>C" "r.(=)" "p.(=)" "" "0001025369" "00025429" "30" "628" "-49961" "628" "-49961" "c.628-49961C>T" "r.(=)" "p.(=)" "" "0001025370" "00025429" "30" "628" "-49789" "628" "-49789" "c.628-49789G>T" "r.(=)" "p.(=)" "" "0001025371" "00025429" "30" "1249" "0" "1249" "0" "c.1249G>A" "r.(?)" "p.(Val417Ile)" "" "0001036273" "00025429" "30" "628" "-49961" "628" "-49961" "c.628-49961C>T" "r.(=)" "p.(=)" "" "0001036274" "00025429" "30" "628" "-49843" "628" "-49843" "c.628-49843G>A" "r.(=)" "p.(=)" "" "0001036275" "00025429" "30" "628" "-49789" "628" "-49789" "c.628-49789G>T" "r.(=)" "p.(=)" "" "0001036276" "00025429" "50" "1299" "140" "1299" "140" "c.1299+140C>T" "r.(=)" "p.(=)" "" "0001036277" "00025429" "50" "1714" "0" "1714" "0" "c.1714del" "r.(?)" "p.(Met573Cysfs*4)" "" "0001052912" "00025429" "30" "144" "0" "144" "0" "c.144G>A" "r.(?)" "p.(=)" "" "0001052913" "00025429" "30" "185" "0" "187" "0" "c.185_187dup" "r.(?)" "p.(Gly62dup)" "" "0001052914" "00025429" "50" "197" "0" "197" "0" "c.197G>C" "r.(?)" "p.(Arg66Pro)" "" "0001052915" "00025429" "30" "1136" "6123" "1136" "6124" "c.1136+6123_1136+6124dup" "r.(=)" "p.(=)" "" "0001052916" "00025429" "30" "1136" "6135" "1136" "6135" "c.1136+6135C>T" "r.(=)" "p.(=)" "" "0001064869" "00025429" "50" "628" "-49747" "628" "-49747" "c.628-49747C>T" "r.(=)" "p.(=)" "" "0001064870" "00025429" "30" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Gly558Asp)" "" "0001064871" "00025429" "50" "1884" "-2" "1884" "-2" "c.1884-2A>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000000210" "0000012551" "0000004163" "0000023124" "0000004163" "0000023125" "0000019597" "0000040017" "0000064878" "0000096532" "0000211113" "0000442541" "0000312565" "0000694168" "0000312576" "0000694176" "0000312577" "0000694177" "0000312578" "0000694178" "0000312579" "0000694179" "0000312580" "0000694180" "0000312581" "0000694181" "0000375911" "0000787262" "0000420888" "0000881247"