### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DCHS1) # 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}}" "DCHS1" "dachsous 1 (Drosophila)" "11" "p15.4" "unknown" "NC_000011.9" "UD_136018157618" "" "http://www.LOVD.nl/DCHS1" "" "1" "13681" "8642" "603057" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-19 21:12:41" "00000" "2025-07-08 13:22:38" ## 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}}" "00006156" "DCHS1" "dachsous 1 (Drosophila)" "001" "NM_003737.2" "" "NP_003728.1" "" "" "" "-407" "10349" "9897" "6677080" "6642558" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00787" "-" "encephalopathy, neonatal, severe" "XLR" "300673" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02359" "VMLDS1" "Van Maldergem syndrome 1" "AR" "601390" "" "" "" "00006" "2014-09-25 23:29:40" "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" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06106" "MVP2" "Mitral valve prolapse 2" "AD" "607829" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DCHS1" "02359" "DCHS1" "06106" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00065133" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "M" "?" "Switzerland" "00y04m" "0" "" "" "Europe" "SIDS061" "00065155" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "F" "?" "Switzerland" "00y02m" "0" "" "" "Europe" "SIDS223" "00103747" "" "" "" "1" "" "01602" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "M" "" "Switzerland" "22y" "0" "" "" "Europe" "SUDS049" "00290493" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00316096" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "fetus" "" "" "France" "" "0" "" "" "" "K13" "00316111" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "" "" "" "France" "" "0" "" "" "" "K159" "00316166" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "fetus" "" "" "France" "" "0" "" "" "" "K60" "00316182" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "" "" "" "France" "" "0" "" "" "" "K86" "00390710" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "187442" "00413239" "" "" "" "2" "" "03578" "{PMID:Sheffer 2015:25338135}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Israel" "" "0" "" "" "Arab;Moslem" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00065133" "02087" "00065155" "02087" "00103747" "05166" "00290493" "00198" "00316096" "05342" "00316111" "05342" "00316166" "05342" "00316182" "05342" "00390710" "05611" "00413239" "00787" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00787, 02087, 02359, 05166, 05342, 05611, 06106 ## Count = 9 "{{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}}" "0000051237" "02087" "00065133" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000051260" "02087" "00065155" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000081683" "05166" "00103747" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000239843" "05342" "00316096" "00006" "Unknown" "" "bilateral multicystic dysplasia" "" "" "" "" "" "" "" "" "" "bilateral multicystic dysplasia" "" "0000239858" "05342" "00316111" "00006" "Unknown" "" "renal dysplasia; cysts; unilateral kidney agenesis" "" "" "" "" "" "" "" "" "" "unilateral kidney agenesis" "" "0000239913" "05342" "00316166" "00006" "Unknown" "" "renal dysplasia; cysts; pancreas hypoplasia" "" "" "" "" "" "" "" "" "" "renal dysplasia" "" "0000239929" "05342" "00316182" "00006" "Unknown" "" "unilateral multicystic dysplasia; vesico-ureteral reflux; morning glory syndrome, intellectual disability" "" "" "" "" "" "" "" "" "" "unilateral multicystic dysplasia" "" "0000289274" "05611" "00390710" "01164" "Familial, autosomal recessive" "33y" "Global developmental delay, Neurodevelopmental delay, Intellectual disability, Seizure, Focal motor seizure, Arthrogryposis multiplex congenita, Spinal dysplasia, Abnormal palate morphology, Abnormality of the dentition, Abnormality of dental morphology, Telecanthus, Tracheomalacia, Abnormality of the outer ear, Abnormality of the pinna, Abnormality of finger, Abnormality of the genitourinary system, Gonadal dysgenesis, Abnormal external genitalia, Abnormal internal genitalia, Anal atresia, Subcortical heterotopia" "" "" "" "" "" "" "" "" "VMLDS1" "" "" "0000305220" "00787" "00413239" "03578" "Familial, autosomal recessive" "" "poor suck (HP:0002033); gastroesophageal reflux (HP:0002020); restlessness (HP:0000711); severe motor delay (HP:0001270); speech delay (HP:0000750); infantile axial hypotonia (HP:0009062); spastic tetraplegia (HP:0002510); opisthotonos (HP:0002179); cerebral visual impairment (HP:0100704); vertical nystagmus (HP:0010544); myoclonic seizures (HP:0032794); multifocal polyspike wave complexes (HP:0002392); cerebellar hypoplasia (HP:0007360); hypoplasia of the cerebellar vermis (HP:0006817); dilation of lateral and fourth ventricle (HP:0006956, HP:0002198); micrognathia (HP:0000347); high arched palate (HP:0000218); prominent metopic suture (HP:0005487); posterior bulge of the skull (HP:0000929); fisted hands (HP:0001155)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065283" "00065133" "1" "01602" "01602" "2016-05-19 13:41:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000065306" "00065155" "1" "01602" "01602" "2016-05-19 14:55:26" "" "" "SEQ-NG-I" "DNA" "" "" "0000104202" "00103747" "1" "01602" "01602" "2017-04-18 11:57:11" "" "" "SEQ-NG-I" "DNA" "" "" "0000291661" "00290493" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000317278" "00316096" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317293" "00316111" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317348" "00316166" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317364" "00316182" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000391951" "00390710" "1" "01164" "01164" "2021-11-11 16:39:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000414511" "00413239" "1" "03578" "03578" "2022-07-13 06:33:20" "03578" "2022-07-13 06:48:03" "SEQ-NG" "DNA;RNA" "blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000317278" "DCHS1" "0000317293" "DCHS1" "0000317348" "DCHS1" "0000317364" "DCHS1" "0000391951" "DCHS1" "0000414511" "INPP4A" ## 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 = 534 "{{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}}" "0000096955" "0" "50" "11" "6662141" "6662141" "subst" "0.000947463" "01602" "DCHS1_000002" "g.6662141C>T" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs143767864" "0" "" "" "g.6640910C>T" "" "VUS" "" "0000096983" "0" "50" "11" "6647509" "6647509" "subst" "0.000163575" "01602" "DCHS1_000001" "g.6647509A>T" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Unknown" "?" "rs148323523" "0" "" "" "g.6626278A>T" "" "VUS" "" "0000246979" "0" "10" "11" "6651810" "6651810" "subst" "0.428429" "02330" "DCHS1_000103" "g.6651810A>G" "" "" "" "DCHS1(NM_003737.2):c.4215T>C (p.L1405=), DCHS1(NM_003737.4):c.4215T>C (p.L1405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6630579A>G" "" "benign" "" "0000247007" "0" "10" "11" "6645293" "6645293" "subst" "0.00831451" "02330" "DCHS1_000075" "g.6645293A>C" "" "" "" "DCHS1(NM_003737.4):c.7614T>G (p.A2538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6624062A>C" "" "benign" "" "0000247040" "0" "30" "11" "6648603" "6648603" "subst" "0" "02330" "DCHS1_000090" "g.6648603A>G" "" "" "" "DCHS1(NM_003737.4):c.5667T>C (p.H1889=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6627372A>G" "" "likely benign" "" "0000253359" "0" "10" "11" "6651810" "6651810" "subst" "0.428429" "01943" "DCHS1_000103" "g.6651810A>G" "" "" "" "DCHS1(NM_003737.2):c.4215T>C (p.L1405=), DCHS1(NM_003737.4):c.4215T>C (p.L1405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6630579A>G" "" "benign" "" "0000253609" "0" "10" "11" "6647461" "6647461" "subst" "0.00473957" "01943" "DCHS1_000085" "g.6647461A>T" "" "" "" "DCHS1(NM_003737.2):c.6515T>A (p.L2172Q), DCHS1(NM_003737.4):c.6515T>A (p.L2172Q, p.(Leu2172Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6626230A>T" "" "benign" "" "0000254557" "0" "30" "11" "6661205" "6661205" "subst" "1.2183E-5" "01943" "DCHS1_000056" "g.6661205A>G" "" "" "" "DCHS1(NM_003737.2):c.1640T>C (p.I547T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6639974A>G" "" "likely benign" "" "0000265217" "0" "10" "11" "6661447" "6661447" "subst" "0.0218206" "02330" "DCHS1_000058" "g.6661447G>A" "" "" "" "DCHS1(NM_003737.2):c.1398C>T (p.N466=), DCHS1(NM_003737.4):c.1398C>T (p.N466=, p.(Asn466=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6640216G>A" "" "benign" "" "0000265218" "0" "10" "11" "6655433" "6655433" "subst" "0.373101" "02330" "DCHS1_000051" "g.6655433G>A" "" "" "" "DCHS1(NM_003737.2):c.1902C>T (p.H634=), DCHS1(NM_003737.4):c.1902C>T (p.H634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6634202G>A" "" "benign" "" "0000265219" "0" "10" "11" "6655332" "6655332" "subst" "0.380742" "02330" "DCHS1_000050" "g.6655332T>A" "" "" "" "DCHS1(NM_003737.2):c.1986+17A>T, DCHS1(NM_003737.4):c.1986+17A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6634101T>A" "" "benign" "" "0000265220" "0" "10" "11" "6655264" "6655264" "subst" "0.00593303" "02330" "DCHS1_000049" "g.6655264G>A" "" "" "" "DCHS1(NM_003737.4):c.1987-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6634033G>A" "" "benign" "" "0000265221" "0" "10" "11" "6652976" "6652976" "subst" "0.0131719" "02330" "DCHS1_000112" "g.6652976C>T" "" "" "" "DCHS1(NM_003737.2):c.3546G>A (p.Q1182=), DCHS1(NM_003737.4):c.3546G>A (p.Q1182=, p.(Gln1182=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6631745C>T" "" "benign" "" "0000265222" "0" "10" "11" "6652618" "6652618" "subst" "0.408259" "02330" "DCHS1_000111" "g.6652618C>T" "" "" "" "DCHS1(NM_003737.2):c.3696G>A (p.P1232=), DCHS1(NM_003737.4):c.3696G>A (p.P1232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6631387C>T" "" "benign" "" "0000265223" "0" "10" "11" "6652603" "6652603" "subst" "0.0103543" "02330" "DCHS1_000109" "g.6652603C>T" "" "" "" "DCHS1(NM_003737.4):c.3711G>A (p.T1237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6631372C>T" "" "benign" "" "0000265224" "0" "50" "11" "6651953" "6651953" "subst" "0.00254999" "02330" "DCHS1_000105" "g.6651953C>T" "" "" "" "DCHS1(NM_003737.2):c.4072G>A (p.E1358K, p.(Glu1358Lys)), DCHS1(NM_003737.4):c.4072G>A (p.E1358K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6630722C>T" "" "VUS" "" "0000265225" "0" "10" "11" "6651417" "6651417" "subst" "1.48394E-5" "02330" "DCHS1_000098" "g.6651417G>A" "" "" "" "DCHS1(NM_003737.2):c.4608C>T (p.V1536=), DCHS1(NM_003737.4):c.4608C>T (p.V1536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6630186G>A" "" "benign" "" "0000265226" "0" "30" "11" "6651000" "6651000" "subst" "0.00159004" "02330" "DCHS1_000096" "g.6651000C>A" "" "" "" "DCHS1(NM_003737.2):c.4938G>T (p.A1646=), DCHS1(NM_003737.4):c.4938G>T (p.A1646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6629769C>A" "" "likely benign" "" "0000265228" "0" "10" "11" "6662302" "6662302" "subst" "0.00045527" "02330" "DCHS1_000065" "g.6662302C>T" "" "" "" "DCHS1(NM_003737.2):c.543G>A (p.A181=), DCHS1(NM_003737.4):c.543G>A (p.A181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6641071C>T" "" "benign" "" "0000265229" "0" "30" "11" "6648666" "6648666" "subst" "0.000555467" "02330" "DCHS1_000091" "g.6648666C>T" "" "" "" "DCHS1(NM_003737.2):c.5604G>A (p.V1868=), DCHS1(NM_003737.4):c.5604G>A (p.V1868=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6627435C>T" "" "likely benign" "" "0000265230" "0" "10" "11" "6648573" "6648573" "subst" "0.022069" "02330" "DCHS1_000041" "g.6648573T>C" "" "" "" "DCHS1(NM_003737.2):c.5697A>G (p.A1899=), DCHS1(NM_003737.4):c.5697A>G (p.A1899=, p.(Ala1899=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6627342T>C" "" "benign" "" "0000265231" "0" "10" "11" "6648424" "6648424" "subst" "0.35579" "02330" "DCHS1_000040" "g.6648424G>A" "" "" "" "DCHS1(NM_003737.2):c.5846C>T (p.T1949M), DCHS1(NM_003737.4):c.5846C>T (p.T1949M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6627193G>A" "" "benign" "" "0000265232" "0" "10" "11" "6647875" "6647875" "subst" "0.00377714" "02330" "DCHS1_000035" "g.6647875C>G" "" "" "" "DCHS1(NM_003737.2):c.6272G>C (p.(Arg2091Thr)), DCHS1(NM_003737.4):c.6272G>C (p.R2091T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6626644C>G" "" "benign" "" "0000265233" "0" "10" "11" "6647622" "6647622" "subst" "0.364823" "02330" "DCHS1_000088" "g.6647622T>C" "" "" "" "DCHS1(NM_003737.2):c.6365-11A>G, DCHS1(NM_003737.4):c.6365-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6626391T>C" "" "benign" "" "0000265234" "0" "50" "11" "6646599" "6646599" "subst" "3.68041E-5" "02330" "DCHS1_000083" "g.6646599G>A" "" "" "" "DCHS1(NM_003737.4):c.6976C>T (p.R2326C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6625368G>A" "" "VUS" "" "0000265235" "0" "10" "11" "6646584" "6646584" "subst" "0.0199563" "02330" "DCHS1_000081" "g.6646584C>T" "" "" "" "DCHS1(NM_003737.2):c.6991G>A (p.V2331I, p.(Val2331Ile)), DCHS1(NM_003737.4):c.6991G>A (p.V2331I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6625353C>T" "" "benign" "" "0000265236" "0" "10" "11" "6646500" "6646500" "subst" "0.00321218" "02330" "DCHS1_000080" "g.6646500G>A" "" "" "" "DCHS1(NM_003737.4):c.7075C>T (p.R2359C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6625269G>A" "" "benign" "" "0000265237" "0" "10" "11" "6646108" "6646108" "subst" "0.184067" "02330" "DCHS1_000079" "g.6646108T>C" "" "" "" "DCHS1(NM_003737.2):c.7147-9A>G, DCHS1(NM_003737.4):c.7147-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6624877T>C" "" "benign" "" "0000265238" "0" "10" "11" "6645209" "6645209" "subst" "0" "02330" "DCHS1_000034" "g.6645209T>C" "" "" "" "DCHS1(NM_003737.4):c.7698A>G (p.T2566=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623978T>C" "" "benign" "" "0000265239" "0" "10" "11" "6645068" "6645068" "subst" "0.00378156" "02330" "DCHS1_000033" "g.6645068C>T" "" "" "" "DCHS1(NM_003737.4):c.7839G>A (p.E2613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623837C>T" "" "benign" "" "0000265240" "0" "10" "11" "6644600" "6644600" "subst" "0.176717" "02330" "DCHS1_000026" "g.6644600C>T" "" "" "" "DCHS1(NM_003737.4):c.8307G>A (p.A2769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623369C>T" "" "benign" "" "0000265241" "0" "10" "11" "6644427" "6644427" "subst" "0.0517571" "02330" "DCHS1_000022" "g.6644427C>G" "" "" "" "DCHS1(NM_003737.4):c.8480G>C (p.R2827P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623196C>G" "" "benign" "" "0000265242" "0" "10" "11" "6644308" "6644308" "subst" "0.00547244" "02330" "DCHS1_000020" "g.6644308C>T" "" "" "" "DCHS1(NM_003737.2):c.8599G>A (p.(Ala2867Thr)), DCHS1(NM_003737.4):c.8599G>A (p.A2867T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623077C>T" "" "benign" "" "0000265243" "0" "10" "11" "6644270" "6644270" "subst" "0" "02330" "DCHS1_000019" "g.6644270G>A" "" "" "" "DCHS1(NM_003737.2):c.8640C>T (p.G2880=), DCHS1(NM_003737.4):c.8637C>T (p.S2879=, p.(Ser2879=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623039G>A" "" "benign" "" "0000265244" "0" "10" "11" "6643976" "6643976" "subst" "0.192222" "02330" "DCHS1_000011" "g.6643976C>T" "" "" "" "DCHS1(NM_003737.4):c.8931G>A (p.Q2977=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622745C>T" "" "benign" "" "0000265245" "0" "10" "11" "6643664" "6643664" "subst" "0.000273887" "02330" "DCHS1_000007" "g.6643664G>A" "" "" "" "DCHS1(NM_003737.2):c.9246C>T (p.D3082=), DCHS1(NM_003737.4):c.9243C>T (p.C3081=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622433G>A" "" "benign" "" "0000267284" "0" "50" "11" "6655238" "6655238" "subst" "0.000227622" "02325" "DCHS1_000048" "g.6655238G>C" "" "" "" "DCHS1(NM_003737.2):c.2000C>G (p.S667C), DCHS1(NM_003737.4):c.2000C>G (p.S667C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6634007G>C" "" "VUS" "" "0000267285" "0" "30" "11" "6644149" "6644149" "subst" "0.000853521" "02325" "DCHS1_000017" "g.6644149C>T" "" "" "" "DCHS1(NM_003737.2):c.8761G>A (p.D2921N), DCHS1(NM_003737.4):c.8758G>A (p.V2920M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622918C>T" "" "likely benign" "" "0000268653" "0" "50" "11" "6662141" "6662141" "subst" "0.000947463" "02329" "DCHS1_000002" "g.6662141C>T" "" "" "" "DCHS1(NM_003737.2):c.704G>A (p.R235Q), DCHS1(NM_003737.4):c.704G>A (p.R235Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6640910C>T" "" "VUS" "" "0000268654" "0" "50" "11" "6644464" "6644464" "subst" "9.47724E-5" "02329" "DCHS1_000024" "g.6644464C>T" "" "" "" "DCHS1(NM_003737.2):c.8446G>A (p.A2816T), DCHS1(NM_003737.4):c.8443G>A (p.A2815T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623233C>T" "" "VUS" "" "0000274774" "0" "50" "11" "6661787" "6661787" "subst" "0.00340097" "01943" "DCHS1_000061" "g.6661787C>T" "" "" "" "DCHS1(NM_003737.2):c.1058G>A (p.R353Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6640556C>T" "" "VUS" "" "0000274775" "0" "10" "11" "6661723" "6661723" "subst" "0.00132" "01943" "DCHS1_000060" "g.6661723T>C" "" "" "" "DCHS1(NM_003737.2):c.1122A>G (p.Q374=), DCHS1(NM_003737.4):c.1122A>G (p.Q374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6640492T>C" "" "benign" "" "0000274776" "0" "50" "11" "6661600" "6661600" "subst" "0.00585949" "01943" "DCHS1_000059" "g.6661600G>T" "" "" "" "DCHS1(NM_003737.2):c.1245C>A (p.S415R, p.(Ser415Arg)), DCHS1(NM_003737.4):c.1245C>A (p.S415R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6640369G>T" "" "VUS" "" "0000274777" "0" "30" "11" "6661447" "6661447" "subst" "0.0218206" "01943" "DCHS1_000058" "g.6661447G>A" "" "" "" "DCHS1(NM_003737.2):c.1398C>T (p.N466=), DCHS1(NM_003737.4):c.1398C>T (p.N466=, p.(Asn466=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6640216G>A" "" "likely benign" "" "0000274778" "0" "10" "11" "6661170" "6661170" "subst" "0.00125078" "01943" "DCHS1_000055" "g.6661170C>A" "" "" "" "DCHS1(NM_003737.2):c.1675G>T (p.A559S), DCHS1(NM_003737.4):c.1675G>T (p.(Ala559Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6639939C>A" "" "benign" "" "0000274779" "0" "50" "11" "6661149" "6661149" "subst" "4.46686E-5" "01943" "DCHS1_000054" "g.6661149C>T" "" "" "" "DCHS1(NM_003737.2):c.1696G>A (p.V566M), DCHS1(NM_003737.4):c.1696G>A (p.V566M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6639918C>T" "" "VUS" "" "0000274780" "0" "30" "11" "6661075" "6661075" "subst" "0.000248305" "01943" "DCHS1_000053" "g.6661075G>A" "" "" "" "DCHS1(NM_003737.2):c.1770C>T (p.G590=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6639844G>A" "" "likely benign" "" "0000274781" "0" "30" "11" "6655547" "6655547" "subst" "0.000213658" "01943" "DCHS1_000052" "g.6655547G>A" "" "" "" "DCHS1(NM_003737.2):c.1798-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6634316G>A" "" "likely benign" "" "0000274782" "0" "10" "11" "6655433" "6655433" "subst" "0.373101" "01943" "DCHS1_000051" "g.6655433G>A" "" "" "" "DCHS1(NM_003737.2):c.1902C>T (p.H634=), DCHS1(NM_003737.4):c.1902C>T (p.H634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6634202G>A" "" "benign" "" "0000274783" "0" "10" "11" "6655332" "6655332" "subst" "0.380742" "01943" "DCHS1_000050" "g.6655332T>A" "" "" "" "DCHS1(NM_003737.2):c.1986+17A>T, DCHS1(NM_003737.4):c.1986+17A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6634101T>A" "" "benign" "" "0000274784" "0" "50" "11" "6655175" "6655175" "subst" "0" "01943" "DCHS1_000047" "g.6655175C>G" "" "" "" "DCHS1(NM_003737.2):c.2063G>C (p.R688P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6633944C>G" "" "VUS" "" "0000274785" "0" "50" "11" "6654716" "6654716" "subst" "0.0011453" "01943" "DCHS1_000046" "g.6654716C>G" "" "" "" "DCHS1(NM_003737.2):c.2382G>C (p.Q794H), DCHS1(NM_003737.4):c.2382G>C (p.(Gln794His), p.Q794H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6633485C>G" "" "VUS" "" "0000274786" "0" "30" "11" "6654043" "6654043" "subst" "0.00155686" "01943" "DCHS1_000045" "g.6654043C>T" "" "" "" "DCHS1(NM_003737.2):c.2700G>A (p.T900=), DCHS1(NM_003737.4):c.2700G>A (p.T900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6632812C>T" "" "likely benign" "" "0000274787" "0" "30" "11" "6653768" "6653768" "subst" "0.00129901" "01943" "DCHS1_000043" "g.6653768C>T" "" "" "" "DCHS1(NM_003737.2):c.2975G>A (p.G992E, p.(Gly992Glu)), DCHS1(NM_003737.4):c.2975G>A (p.G992E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6632537C>T" "" "likely benign" "" "0000274788" "0" "30" "11" "6653747" "6653747" "subst" "0.00189438" "01943" "DCHS1_000042" "g.6653747C>T" "" "" "" "DCHS1(NM_003737.2):c.2996G>A (p.R999Q, p.(Arg999Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6632516C>T" "" "likely benign" "" "0000274789" "0" "50" "11" "6662544" "6662544" "subst" "2.03417E-5" "01943" "DCHS1_000067" "g.6662544C>T" "" "" "" "DCHS1(NM_003737.2):c.301G>A (p.V101I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6641313C>T" "" "VUS" "" "0000274790" "0" "50" "11" "6653585" "6653585" "subst" "0.00358301" "01943" "DCHS1_000117" "g.6653585C>G" "" "" "" "DCHS1(NM_003737.2):c.3158G>C (p.W1053S), DCHS1(NM_003737.4):c.3158G>C (p.W1053S, p.(Trp1053Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6632354C>G" "" "VUS" "" "0000274791" "0" "50" "11" "6653567" "6653567" "subst" "0.00420782" "01943" "DCHS1_000116" "g.6653567G>T" "" "" "" "DCHS1(NM_003737.2):c.3176C>A (p.A1059E, p.(Ala1059Glu)), DCHS1(NM_003737.4):c.3176C>A (p.A1059E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6632336G>T" "" "VUS" "" "0000274792" "0" "50" "11" "6653480" "6653480" "subst" "0.000694868" "01943" "DCHS1_000115" "g.6653480G>A" "" "" "" "DCHS1(NM_003737.2):c.3263C>T (p.T1088I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6632249G>A" "" "VUS" "" "0000274793" "0" "30" "11" "6653329" "6653329" "subst" "2.97047E-5" "01943" "DCHS1_000114" "g.6653329T>C" "" "" "" "DCHS1(NM_003737.2):c.3414A>G (p.G1138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6632098T>C" "" "likely benign" "" "0000274794" "0" "30" "11" "6653253" "6653253" "subst" "0.00196791" "01943" "DCHS1_000113" "g.6653253T>A" "" "" "" "DCHS1(NM_003737.2):c.3481+9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6632022T>A" "" "likely benign" "" "0000274795" "0" "30" "11" "6652976" "6652976" "subst" "0.0131719" "01943" "DCHS1_000112" "g.6652976C>T" "" "" "" "DCHS1(NM_003737.2):c.3546G>A (p.Q1182=), DCHS1(NM_003737.4):c.3546G>A (p.Q1182=, p.(Gln1182=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6631745C>T" "" "likely benign" "" "0000274796" "0" "10" "11" "6652618" "6652618" "subst" "0.408259" "01943" "DCHS1_000111" "g.6652618C>T" "" "" "" "DCHS1(NM_003737.2):c.3696G>A (p.P1232=), DCHS1(NM_003737.4):c.3696G>A (p.P1232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6631387C>T" "" "benign" "" "0000274797" "0" "50" "11" "6652606" "6652606" "subst" "0" "01943" "DCHS1_000110" "g.6652606C>T" "" "" "" "DCHS1(NM_003737.2):c.3708G>A (p.V1236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6631375C>T" "" "VUS" "" "0000274798" "0" "10" "11" "6652416" "6652416" "subst" "0.0184746" "01943" "DCHS1_000108" "g.6652416C>T" "" "" "" "DCHS1(NM_003737.2):c.3798G>A (p.L1266=), DCHS1(NM_003737.4):c.3798G>A (p.L1266=, p.(Leu1266=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6631185C>T" "" "benign" "" "0000274799" "0" "30" "11" "6651975" "6651975" "subst" "0.0130531" "01943" "DCHS1_000107" "g.6651975C>G" "" "" "" "DCHS1(NM_003737.2):c.4050G>C (p.L1350=), DCHS1(NM_003737.4):c.4050G>C (p.L1350=, p.(Leu1350=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6630744C>G" "" "likely benign" "" "0000274800" "0" "30" "11" "6651956" "6651956" "subst" "0" "01943" "DCHS1_000106" "g.6651956G>C" "" "" "" "DCHS1(NM_003737.2):c.4069C>G (p.P1357A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6630725G>C" "" "likely benign" "" "0000274801" "0" "30" "11" "6651945" "6651945" "subst" "0.00102326" "01943" "DCHS1_000104" "g.6651945C>T" "" "" "" "DCHS1(NM_003737.2):c.4080G>A (p.A1360=), DCHS1(NM_003737.4):c.4080G>A (p.(Ala1360=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6630714C>T" "" "likely benign" "" "0000274802" "0" "30" "11" "6651627" "6651627" "subst" "0.000328048" "01943" "DCHS1_000102" "g.6651627G>A" "" "" "" "DCHS1(NM_003737.2):c.4398C>T (p.P1466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6630396G>A" "" "likely benign" "" "0000274803" "0" "30" "11" "6651555" "6651555" "subst" "0.000396249" "01943" "DCHS1_000101" "g.6651555C>G" "" "" "" "DCHS1(NM_003737.2):c.4470G>C (p.A1490=), DCHS1(NM_003737.4):c.4470G>C (p.A1490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6630324C>G" "" "likely benign" "" "0000274804" "0" "50" "11" "6651511" "6651511" "subst" "0" "01943" "DCHS1_000100" "g.6651511G>A" "" "" "" "DCHS1(NM_003737.2):c.4514C>T (p.T1505I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6630280G>A" "" "VUS" "" "0000274805" "0" "50" "11" "6651473" "6651473" "subst" "0.000105851" "01943" "DCHS1_000099" "g.6651473G>C" "" "" "" "DCHS1(NM_003737.2):c.4552C>G (p.R1518G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6630242G>C" "" "VUS" "" "0000274806" "0" "50" "11" "6651470" "6651470" "subst" "0.00134501" "01943" "DCHS1_000073" "g.6651470G>A" "" "" "" "DCHS1(NM_003737.2):c.4555C>T (p.P1519S, p.(Pro1519Ser)), DCHS1(NM_003737.4):c.4555C>T (p.P1519S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6630239G>A" "" "VUS" "" "0000274807" "0" "10" "11" "6651340" "6651340" "subst" "0.00108456" "01943" "DCHS1_000097" "g.6651340G>A" "" "" "" "DCHS1(NM_003737.2):c.4685C>T (p.P1562L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6630109G>A" "" "benign" "" "0000274808" "0" "30" "11" "6650813" "6650813" "subst" "0.000851449" "01943" "DCHS1_000094" "g.6650813G>C" "" "" "" "DCHS1(NM_003737.2):c.5036-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6629582G>C" "" "likely benign" "" "0000274809" "0" "50" "11" "6650025" "6650025" "subst" "8.13279E-5" "01943" "DCHS1_000093" "g.6650025G>A" "" "" "" "DCHS1(NM_003737.2):c.5198C>T (p.T1733M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6628794G>A" "" "VUS" "" "0000274810" "0" "30" "11" "6649853" "6649853" "subst" "9.3417E-5" "01943" "DCHS1_000092" "g.6649853T>C" "" "" "" "DCHS1(NM_003737.2):c.5370A>G (p.L1790=, p.(=)), DCHS1(NM_003737.4):c.5370A>G (p.L1790=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6628622T>C" "" "likely benign" "" "0000274811" "0" "30" "11" "6662302" "6662302" "subst" "0.00045527" "01943" "DCHS1_000065" "g.6662302C>T" "" "" "" "DCHS1(NM_003737.2):c.543G>A (p.A181=), DCHS1(NM_003737.4):c.543G>A (p.A181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6641071C>T" "" "likely benign" "" "0000274812" "0" "30" "11" "6648573" "6648573" "subst" "0.022069" "01943" "DCHS1_000041" "g.6648573T>C" "" "" "" "DCHS1(NM_003737.2):c.5697A>G (p.A1899=), DCHS1(NM_003737.4):c.5697A>G (p.A1899=, p.(Ala1899=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6627342T>C" "" "likely benign" "" "0000274813" "0" "10" "11" "6648424" "6648424" "subst" "0.35579" "01943" "DCHS1_000040" "g.6648424G>A" "" "" "" "DCHS1(NM_003737.2):c.5846C>T (p.T1949M), DCHS1(NM_003737.4):c.5846C>T (p.T1949M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6627193G>A" "" "benign" "" "0000274814" "0" "50" "11" "6662255" "6662255" "subst" "0.000536843" "01943" "DCHS1_000064" "g.6662255G>A" "" "" "" "DCHS1(NM_003737.2):c.590C>T (p.P197L, p.(Pro197Leu)), DCHS1(NM_003737.4):c.590C>T (p.P197L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6641024G>A" "" "VUS" "" "0000274815" "0" "10" "11" "6662249" "6662249" "subst" "0.00157395" "01943" "DCHS1_000063" "g.6662249G>C" "" "" "" "DCHS1(NM_003737.2):c.596C>G (p.P199R, p.(Pro199Arg)), DCHS1(NM_003737.4):c.596C>G (p.P199R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6641018G>C" "" "benign" "" "0000274816" "0" "50" "11" "6648298" "6648298" "subst" "0.000406507" "01943" "DCHS1_000039" "g.6648298C>T" "" "" "" "DCHS1(NM_003737.2):c.5972G>A (p.R1991H), DCHS1(NM_003737.4):c.5972G>A (p.(Arg1991His), p.R1991H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6627067C>T" "" "VUS" "" "0000274817" "0" "50" "11" "6648137" "6648137" "subst" "0.000365922" "01943" "DCHS1_000036" "g.6648137G>A" "" "" "" "DCHS1(NM_003737.2):c.6133C>T (p.R2045C), DCHS1(NM_003737.4):c.6133C>T (p.R2045C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6626906G>A" "" "VUS" "" "0000274818" "0" "30" "11" "6647870" "6647870" "subst" "3.24873E-5" "01943" "DCHS1_000089" "g.6647870C>T" "" "" "" "DCHS1(NM_003737.2):c.6277G>A (p.V2093I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6626639C>T" "" "likely benign" "" "0000274819" "0" "10" "11" "6647622" "6647622" "subst" "0.364823" "01943" "DCHS1_000088" "g.6647622T>C" "" "" "" "DCHS1(NM_003737.2):c.6365-11A>G, DCHS1(NM_003737.4):c.6365-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6626391T>C" "" "benign" "" "0000274820" "0" "30" "11" "6647596" "6647596" "subst" "0.000118499" "01943" "DCHS1_000087" "g.6647596C>T" "" "" "" "DCHS1(NM_003737.2):c.6380G>A (p.R2127H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6626365C>T" "" "likely benign" "" "0000274821" "0" "30" "11" "6647560" "6647560" "subst" "2.4463E-5" "01943" "DCHS1_000086" "g.6647560C>T" "" "" "" "DCHS1(NM_003737.2):c.6416G>A (p.R2139Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6626329C>T" "" "likely benign" "" "0000274822" "0" "30" "11" "6647219" "6647219" "subst" "1.6324E-5" "01943" "DCHS1_000084" "g.6647219G>A" "" "" "" "DCHS1(NM_003737.2):c.6663C>T (p.H2221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6625988G>A" "" "likely benign" "" "0000274823" "0" "70" "11" "6646587" "6646587" "subst" "2.4488E-5" "01943" "DCHS1_000082" "g.6646587G>A" "" "" "" "DCHS1(NM_003737.2):c.6988C>T (p.R2330C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6625356G>A" "" "likely pathogenic" "" "0000274824" "0" "10" "11" "6646584" "6646584" "subst" "0.0199563" "01943" "DCHS1_000081" "g.6646584C>T" "" "" "" "DCHS1(NM_003737.2):c.6991G>A (p.V2331I, p.(Val2331Ile)), DCHS1(NM_003737.4):c.6991G>A (p.V2331I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6625353C>T" "" "benign" "" "0000274825" "0" "50" "11" "6662141" "6662141" "subst" "0.000947463" "01943" "DCHS1_000002" "g.6662141C>T" "" "" "" "DCHS1(NM_003737.2):c.704G>A (p.R235Q), DCHS1(NM_003737.4):c.704G>A (p.R235Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6640910C>T" "" "VUS" "" "0000274826" "0" "10" "11" "6646108" "6646108" "subst" "0.184067" "01943" "DCHS1_000079" "g.6646108T>C" "" "" "" "DCHS1(NM_003737.2):c.7147-9A>G, DCHS1(NM_003737.4):c.7147-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6624877T>C" "" "benign" "" "0000274827" "0" "50" "11" "6646021" "6646021" "subst" "2.84632E-5" "01943" "DCHS1_000078" "g.6646021C>T" "" "" "" "DCHS1(NM_003737.2):c.7225G>A (p.G2409S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6624790C>T" "" "VUS" "" "0000274828" "0" "50" "11" "6645525" "6645525" "subst" "0" "01943" "DCHS1_000077" "g.6645525C>T" "" "" "" "DCHS1(NM_003737.2):c.7385G>A (p.R2462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6624294C>T" "" "VUS" "" "0000274829" "0" "30" "11" "6645369" "6645369" "subst" "0.000420847" "01943" "DCHS1_000076" "g.6645369C>T" "" "" "" "DCHS1(NM_003737.2):c.7541G>A (p.S2514N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6624138C>T" "" "likely benign" "" "0000274830" "0" "50" "11" "6644721" "6644721" "subst" "0.000123025" "01943" "DCHS1_000032" "g.6644721T>A" "" "" "" "DCHS1(NM_003737.2):c.8189A>T (p.E2730V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623490T>A" "" "VUS" "" "0000274831" "0" "30" "11" "6644714" "6644714" "subst" "1.4641E-5" "01943" "DCHS1_000031" "g.6644714G>A" "" "" "" "DCHS1(NM_003737.2):c.8196C>T (p.D2732=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623483G>A" "" "likely benign" "" "0000274832" "0" "30" "11" "6644686" "6644686" "subst" "0" "01943" "DCHS1_000030" "g.6644686G>C" "" "" "" "DCHS1(NM_003737.2):c.8224C>G (p.R2742G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623455G>C" "" "likely benign" "" "0000274833" "0" "30" "11" "6662023" "6662023" "subst" "0" "01943" "DCHS1_000062" "g.6662023G>A" "" "" "" "DCHS1(NM_003737.2):c.822C>T (p.V274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6640792G>A" "" "likely benign" "" "0000274834" "0" "50" "11" "6644641" "6644641" "subst" "0" "01943" "DCHS1_000029" "g.6644641C>T" "" "" "" "DCHS1(NM_003737.2):c.8269G>A (p.A2757T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623410C>T" "" "VUS" "" "0000274838" "0" "30" "11" "6644311" "6644311" "subst" "0" "01943" "DCHS1_000021" "g.6644311C>T" "" "" "" "DCHS1(NM_003737.2):c.8599G>A (p.A2867T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623080C>T" "" "likely benign" "" "0000274841" "0" "30" "11" "6643935" "6643935" "subst" "7.76044E-5" "01943" "DCHS1_000010" "g.6643935C>T" "" "" "" "DCHS1(NM_003737.2):c.8975G>A (p.G2992E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622704C>T" "" "likely benign" "" "0000274845" "0" "50" "11" "6643502" "6643502" "subst" "5.63439E-5" "01943" "DCHS1_000005" "g.6643502G>A" "" "" "" "DCHS1(NM_003737.2):c.9408C>T (p.P3136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622271G>A" "" "VUS" "" "0000312018" "0" "90" "11" "6638385" "6638385" "subst" "0.000410279" "02325" "TPP1_000022" "g.6638385C>G" "" "" "" "TPP1(NM_000391.3):c.509-1G>C (p.?), TPP1(NM_000391.4):c.509-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617154C>G" "" "pathogenic" "" "0000312019" "0" "90" "11" "6638271" "6638271" "subst" "0.000235746" "02325" "TPP1_000043" "g.6638271G>A" "" "" "" "TPP1(NM_000391.3):c.622C>T (p.R208*, p.(Arg208Ter)), TPP1(NM_000391.4):c.622C>T (p.R208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617040G>A" "" "pathogenic" "" "0000312020" "0" "30" "11" "6637938" "6637938" "subst" "0.00255032" "02325" "TPP1_000139" "g.6637938C>G" "" "" "" "TPP1(NM_000391.4):c.840G>C (p.L280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616707C>G" "" "likely benign" "" "0000312021" "0" "90" "11" "6637927" "6637927" "subst" "8.12189E-6" "02325" "TPP1_000071" "g.6637927C>A" "" "" "" "TPP1(NM_000391.4):c.851G>T (p.G284V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616696C>A" "" "pathogenic" "" "0000312022" "0" "10" "11" "6637758" "6637759" "del" "0" "02325" "TPP1_000133" "g.6637758_6637759del" "" "" "" "TPP1(NM_000391.3):c.887-7_887-6del (p.(=)), TPP1(NM_000391.3):c.887-7_887-6delAA, TPP1(NM_000391.4):c.887-7_887-6delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616527_6616528del" "" "benign" "" "0000314803" "0" "70" "11" "6637605" "6637605" "subst" "4.06118E-6" "02326" "TPP1_000046" "g.6637605C>T" "" "" "" "TPP1(NM_000391.3):c.1016G>A (p.R339Q, p.(Arg339Gln)), TPP1(NM_000391.4):c.1016G>A (p.R339Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616374C>T" "" "likely pathogenic" "" "0000314804" "0" "90" "11" "6637573" "6637573" "subst" "0" "02326" "TPP1_000130" "g.6637573G>A" "" "" "" "TPP1(NM_000391.4):c.1048C>T (p.R350W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616342G>A" "" "pathogenic" "" "0000314809" "0" "10" "11" "6637757" "6637759" "del" "0" "02326" "TPP1_000134" "g.6637757_6637759del" "" "" "" "TPP1(NM_000391.3):c.887-8_887-6del (p.(=)), TPP1(NM_000391.4):c.887-8_887-6delAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616526_6616528del" "" "benign" "" "0000314810" "0" "10" "11" "6637758" "6637759" "del" "0" "02326" "TPP1_000135" "g.6637758_6637759del" "" "" "" "TPP1(NM_000391.3):c.887-7_887-6del (p.(=)), TPP1(NM_000391.3):c.887-7_887-6delAA, TPP1(NM_000391.4):c.887-7_887-6delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616527_6616528del" "" "benign" "" "0000314811" "0" "10" "11" "6637759" "6637759" "del" "0" "02326" "TPP1_000136" "g.6637759del" "" "" "" "TPP1(NM_000391.3):c.887-6delA, TPP1(NM_000391.3):c.887-6delA (p.(=)), TPP1(NM_000391.4):c.887-6delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616528del" "" "benign" "" "0000316971" "0" "70" "11" "6637605" "6637605" "subst" "4.06118E-6" "01943" "TPP1_000046" "g.6637605C>T" "" "" "" "TPP1(NM_000391.3):c.1016G>A (p.R339Q, p.(Arg339Gln)), TPP1(NM_000391.4):c.1016G>A (p.R339Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616374C>T" "" "likely pathogenic" "" "0000316973" "0" "30" "11" "6640114" "6640114" "subst" "1.62752E-5" "01943" "TPP1_000145" "g.6640114G>A" "" "" "" "TPP1(NM_000391.3):c.122C>T (p.A41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6618883G>A" "" "likely benign" "" "0000316976" "0" "50" "11" "6640045" "6640059" "del" "0" "01943" "TPP1_000144" "g.6640045_6640059del" "" "" "" "TPP1(NM_000391.3):c.177_191delAAGACTCTCGGAGCT (p.R60_L64del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6618814_6618828del" "" "VUS" "" "0000316977" "0" "50" "11" "6640040" "6640042" "del" "0" "01943" "TPP1_000143" "g.6640040_6640042del" "" "" "" "TPP1(NM_000391.3):c.194_196delTGC (p.V65_Q66delinsE)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6618809_6618811del" "" "VUS" "" "0000316978" "0" "30" "11" "6638938" "6638938" "subst" "0.00226616" "01943" "TPP1_000058" "g.6638938T>C" "" "" "" "TPP1(NM_000391.3):c.299A>G (p.Q100R, p.(Gln100Arg)), TPP1(NM_000391.4):c.299A>G (p.Q100R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617707T>C" "" "likely benign" "" "0000316979" "0" "90" "11" "6638385" "6638385" "subst" "0.000410279" "01943" "TPP1_000022" "g.6638385C>G" "" "" "" "TPP1(NM_000391.3):c.509-1G>C (p.?), TPP1(NM_000391.4):c.509-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617154C>G" "" "pathogenic" "" "0000316980" "0" "10" "11" "6638340" "6638340" "subst" "0.000840916" "01943" "TPP1_000140" "g.6638340G>A" "" "" "" "TPP1(NM_000391.3):c.553C>T (p.R185C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617109G>A" "" "benign" "" "0000316981" "0" "90" "11" "6638271" "6638271" "subst" "0.000235746" "01943" "TPP1_000043" "g.6638271G>A" "" "" "" "TPP1(NM_000391.3):c.622C>T (p.R208*, p.(Arg208Ter)), TPP1(NM_000391.4):c.622C>T (p.R208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617040G>A" "" "pathogenic" "" "0000316982" "0" "30" "11" "6637919" "6637919" "subst" "2.84259E-5" "01943" "TPP1_000138" "g.6637919T>C" "" "" "" "TPP1(NM_000391.3):c.859A>G (p.I287V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616688T>C" "" "likely benign" "" "0000316983" "0" "10" "11" "6637759" "6637759" "del" "0" "01943" "TPP1_000136" "g.6637759del" "" "" "" "TPP1(NM_000391.3):c.887-6delA, TPP1(NM_000391.3):c.887-6delA (p.(=)), TPP1(NM_000391.4):c.887-6delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616528del" "" "benign" "" "0000316984" "0" "10" "11" "6637758" "6637759" "del" "0" "01943" "TPP1_000135" "g.6637758_6637759del" "" "" "" "TPP1(NM_000391.3):c.887-7_887-6del (p.(=)), TPP1(NM_000391.3):c.887-7_887-6delAA, TPP1(NM_000391.4):c.887-7_887-6delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616527_6616528del" "" "benign" "" "0000322003" "0" "50" "11" "6637576" "6637576" "subst" "8.12532E-6" "01804" "TPP1_000131" "g.6637576C>T" "" "" "" "TPP1(NM_000391.3):c.1045G>A (p.(Ala349Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616345C>T" "" "VUS" "" "0000322004" "0" "50" "11" "6637588" "6637588" "subst" "0.00166108" "01804" "TPP1_000132" "g.6637588T>G" "" "" "" "TPP1(NM_000391.3):c.1033A>C (p.M345L, p.(Met345Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616357T>G" "" "VUS" "" "0000322005" "0" "90" "11" "6637605" "6637605" "subst" "4.06118E-6" "01804" "TPP1_000046" "g.6637605C>T" "" "" "" "TPP1(NM_000391.3):c.1016G>A (p.R339Q, p.(Arg339Gln)), TPP1(NM_000391.4):c.1016G>A (p.R339Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616374C>T" "" "pathogenic" "" "0000322006" "0" "30" "11" "6637757" "6637759" "del" "0" "01804" "TPP1_000134" "g.6637757_6637759del" "" "" "" "TPP1(NM_000391.3):c.887-8_887-6del (p.(=)), TPP1(NM_000391.4):c.887-8_887-6delAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616526_6616528del" "" "likely benign" "" "0000322007" "0" "50" "11" "6637758" "6637759" "del" "0" "01804" "TPP1_000135" "g.6637758_6637759del" "" "" "" "TPP1(NM_000391.3):c.887-7_887-6del (p.(=)), TPP1(NM_000391.3):c.887-7_887-6delAA, TPP1(NM_000391.4):c.887-7_887-6delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6616527_6616528del" "" "VUS" "" "0000322009" "0" "50" "11" "6638948" "6638948" "subst" "0" "01804" "TPP1_000142" "g.6638948G>T" "" "" "" "TPP1(NM_000391.3):c.289C>A (p.(His97Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617717G>T" "" "VUS" "" "0000322013" "0" "50" "11" "6644023" "6644023" "subst" "0" "01804" "DCHS1_000014" "g.6644023G>A" "" "" "" "DCHS1(NM_003737.2):c.8884C>T (p.(Arg2962Trp)), DCHS1(NM_003737.4):c.8884C>T (p.R2962W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622792G>A" "" "VUS" "" "0000322015" "0" "50" "11" "6644131" "6644131" "subst" "0" "01804" "DCHS1_000016" "g.6644131C>T" "" "" "" "DCHS1(NM_003737.2):c.8776G>A (p.(Ala2926Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622900C>T" "" "VUS" "" "0000322016" "0" "50" "11" "6644172" "6644172" "subst" "0" "01804" "DCHS1_000018" "g.6644172C>T" "" "" "" "DCHS1(NM_003737.2):c.8735G>A (p.(Arg2912Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622941C>T" "" "VUS" "" "0000322017" "0" "30" "11" "6644638" "6644638" "subst" "0.00121202" "01804" "DCHS1_000028" "g.6644638C>T" "" "" "" "DCHS1(NM_003737.2):c.8269G>A (p.(Ala2757Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6623407C>T" "" "likely benign" "" "0000322019" "0" "30" "11" "6645522" "6645522" "subst" "0.0132526" "01804" "DCHS1_000137" "g.6645522C>T" "" "" "" "DCHS1(NM_003737.2):c.7385G>A (p.(Arg2462Gln)), DCHS1(NM_003737.2):c.7388G>A (p.G2463E), DCHS1(NM_003737.4):c.7385G>A (p.R2462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6624291C>T" "" "likely benign" "" "0000322022" "0" "50" "11" "6647477" "6647477" "subst" "1.64491E-5" "01804" "DCHS1_000151" "g.6647477T>A" "" "" "" "DCHS1(NM_003737.2):c.6499A>T (p.(Asn2167Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6626246T>A" "" "VUS" "" "0000322025" "0" "30" "11" "6647875" "6647875" "subst" "0.00377714" "01804" "DCHS1_000035" "g.6647875C>G" "" "" "" "DCHS1(NM_003737.2):c.6272G>C (p.(Arg2091Thr)), DCHS1(NM_003737.4):c.6272G>C (p.R2091T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6626644C>G" "" "likely benign" "" "0000322027" "0" "50" "11" "6648199" "6648199" "subst" "1.21928E-5" "01804" "DCHS1_000038" "g.6648199C>T" "" "" "" "DCHS1(NM_003737.2):c.6071G>A (p.(Arg2024His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6626968C>T" "" "VUS" "" "0000322029" "0" "50" "11" "6648836" "6648836" "subst" "0" "01804" "DCHS1_000164" "g.6648836G>A" "" "" "" "DCHS1(NM_003737.2):c.5434C>T (p.(Pro1812Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6627605G>A" "" "VUS" "" "0000322030" "0" "50" "11" "6649853" "6649853" "subst" "9.3417E-5" "01804" "DCHS1_000092" "g.6649853T>C" "" "" "" "DCHS1(NM_003737.2):c.5370A>G (p.L1790=, p.(=)), DCHS1(NM_003737.4):c.5370A>G (p.L1790=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6628622T>C" "" "VUS" "" "0000322035" "0" "30" "11" "6651470" "6651470" "subst" "0.00134501" "01804" "DCHS1_000073" "g.6651470G>A" "" "" "" "DCHS1(NM_003737.2):c.4555C>T (p.P1519S, p.(Pro1519Ser)), DCHS1(NM_003737.4):c.4555C>T (p.P1519S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6630239G>A" "" "likely benign" "" "0000322038" "0" "30" "11" "6651656" "6651656" "subst" "0.000156537" "01804" "DCHS1_000175" "g.6651656T>C" "" "" "" "DCHS1(NM_003737.2):c.4369A>G (p.(Thr1457Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6630425T>C" "" "likely benign" "" "0000322039" "0" "50" "11" "6651953" "6651953" "subst" "0.00254999" "01804" "DCHS1_000105" "g.6651953C>T" "" "" "" "DCHS1(NM_003737.2):c.4072G>A (p.E1358K, p.(Glu1358Lys)), DCHS1(NM_003737.4):c.4072G>A (p.E1358K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6630722C>T" "" "VUS" "" "0000322040" "0" "50" "11" "6652019" "6652019" "subst" "7.10985E-6" "01804" "DCHS1_000177" "g.6652019C>G" "" "" "" "DCHS1(NM_003737.2):c.4006G>C (p.(Val1336Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6630788C>G" "" "VUS" "" "0000322041" "0" "50" "11" "6652893" "6652893" "subst" "1.27023E-5" "01804" "DCHS1_000179" "g.6652893G>A" "" "" "" "DCHS1(NM_003737.2):c.3629C>T (p.(Thr1210Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6631662G>A" "" "VUS" "" "0000322042" "0" "50" "11" "6653567" "6653567" "subst" "0.00420782" "01804" "DCHS1_000116" "g.6653567G>T" "" "" "" "DCHS1(NM_003737.2):c.3176C>A (p.A1059E, p.(Ala1059Glu)), DCHS1(NM_003737.4):c.3176C>A (p.A1059E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6632336G>T" "" "VUS" "" "0000322044" "0" "50" "11" "6653663" "6653663" "subst" "0" "01804" "DCHS1_000186" "g.6653663G>A" "" "" "" "DCHS1(NM_003737.2):c.3080C>T (p.(Pro1027Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6632432G>A" "" "VUS" "" "0000322045" "0" "30" "11" "6653747" "6653747" "subst" "0.00189438" "01804" "DCHS1_000042" "g.6653747C>T" "" "" "" "DCHS1(NM_003737.2):c.2996G>A (p.R999Q, p.(Arg999Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6632516C>T" "" "likely benign" "" "0000322046" "0" "30" "11" "6653790" "6653790" "subst" "0.00192615" "01804" "DCHS1_000044" "g.6653790G>A" "" "" "" "DCHS1(NM_003737.4):c.2953C>T (p.R985W, p.(Arg985Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6632559G>A" "" "likely benign" "" "0000322047" "0" "50" "11" "6661324" "6661324" "subst" "1.62995E-5" "01804" "DCHS1_000057" "g.6661324C>G" "" "" "" "DCHS1(NM_003737.2):c.1521G>C (p.Q507H, p.(Gln507His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6640093C>G" "" "VUS" "" "0000322048" "0" "30" "11" "6661600" "6661600" "subst" "0.00585949" "01804" "DCHS1_000059" "g.6661600G>T" "" "" "" "DCHS1(NM_003737.2):c.1245C>A (p.S415R, p.(Ser415Arg)), DCHS1(NM_003737.4):c.1245C>A (p.S415R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6640369G>T" "" "likely benign" "" "0000322051" "0" "30" "11" "6662255" "6662255" "subst" "0.000536843" "01804" "DCHS1_000064" "g.6662255G>A" "" "" "" "DCHS1(NM_003737.2):c.590C>T (p.P197L, p.(Pro197Leu)), DCHS1(NM_003737.4):c.590C>T (p.P197L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6641024G>A" "" "likely benign" "" "0000322052" "0" "30" "11" "6662454" "6662454" "subst" "0" "01804" "DCHS1_000066" "g.6662454C>A" "" "" "" "DCHS1(NM_003737.2):c.391G>T (p.(Val131Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6641223C>A" "" "likely benign" "" "0000322053" "0" "30" "11" "6662763" "6662771" "del" "0" "01804" "DCHS1_000069" "g.6662763_6662771del" "" "" "" "DCHS1(NM_003737.2):c.91_99del (p.(Leu31_Leu33del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6641532_6641540del" "" "likely benign" "" "0000322054" "0" "30" "11" "6662823" "6662823" "subst" "3.38781E-5" "01804" "DCHS1_000070" "g.6662823C>G" "" "" "" "DCHS1(NM_003737.2):c.22G>C (p.(Val8Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6641592C>G" "" "likely benign" "" "0000341685" "0" "50" "11" "6662532" "6662532" "subst" "6.10143E-5" "02327" "DCHS1_000074" "g.6662532G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6641301G>A" "" "VUS" "" "0000344590" "0" "90" "11" "6638559" "6638559" "subst" "1.2183E-5" "02327" "TPP1_000149" "g.6638559G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617328G>A" "" "pathogenic" "" "0000348209" "0" "30" "11" "6651470" "6651470" "subst" "0.00134501" "02327" "DCHS1_000073" "g.6651470G>A" "" "" "" "DCHS1(NM_003737.2):c.4555C>T (p.P1519S, p.(Pro1519Ser)), DCHS1(NM_003737.4):c.4555C>T (p.P1519S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6630239G>A" "" "likely benign" "" "0000348217" "0" "50" "11" "6638574" "6638574" "subst" "0" "02327" "TPP1_000150" "g.6638574G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617343G>T" "" "VUS" "" "0000349419" "0" "50" "11" "6644134" "6644134" "subst" "0" "02327" "DCHS1_000072" "g.6644134T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622903T>G" "" "VUS" "" "0000350459" "0" "50" "11" "6644059" "6644059" "subst" "0" "02327" "DCHS1_000071" "g.6644059C>G" "" "" "" "DCHS1(NM_003737.4):c.8848G>C (p.V2950L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6622828C>G" "" "VUS" "" "0000350715" "0" "50" "11" "6640011" "6640011" "subst" "2.8462E-5" "02327" "TPP1_000002" "g.6640011T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6618780T>C" "" "VUS" "" "0000350764" "0" "90" "11" "6638385" "6638385" "subst" "0.000410279" "02327" "TPP1_000022" "g.6638385C>G" "" "" "" "TPP1(NM_000391.3):c.509-1G>C (p.?), TPP1(NM_000391.4):c.509-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6617154C>G" "" "pathogenic" "" "0000545162" "0" "10" "11" "6637588" "6637588" "subst" "0.00166108" "01943" "TPP1_000132" "g.6637588T>G" "" "" "" "TPP1(NM_000391.3):c.1033A>C (p.M345L, p.(Met345Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6616357T>G" "" "benign" "" "0000545163" "0" "50" "11" "6637756" "6637759" "del" "0" "01804" "DCHS1_000118" "g.6637756_6637759del" "" "" "" "TPP1(NM_000391.3):c.887-9_887-6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6616525_6616528del" "" "VUS" "" "0000545164" "0" "30" "11" "6637759" "6637759" "del" "0" "01804" "TPP1_000136" "g.6637759del" "" "" "" "TPP1(NM_000391.3):c.887-6delA, TPP1(NM_000391.3):c.887-6delA (p.(=)), TPP1(NM_000391.4):c.887-6delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6616528del" "" "likely benign" "" "0000545165" "0" "30" "11" "6638097" "6638097" "subst" "0.00040222" "01943" "DCHS1_000119" "g.6638097A>T" "" "" "" "TPP1(NM_000391.3):c.688-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6616866A>T" "" "likely benign" "" "0000545167" "0" "90" "11" "6638271" "6638271" "subst" "0.000235746" "01804" "TPP1_000043" "g.6638271G>A" "" "" "" "TPP1(NM_000391.3):c.622C>T (p.R208*, p.(Arg208Ter)), TPP1(NM_000391.4):c.622C>T (p.R208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6617040G>A" "" "pathogenic" "" "0000545168" "0" "90" "11" "6638385" "6638385" "subst" "0.000410279" "01804" "TPP1_000022" "g.6638385C>G" "" "" "" "TPP1(NM_000391.3):c.509-1G>C (p.?), TPP1(NM_000391.4):c.509-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6617154C>G" "" "pathogenic" "" "0000545169" "0" "90" "11" "6638385" "6638385" "subst" "1.21865E-5" "02325" "TPP1_000023" "g.6638385C>T" "" "" "" "TPP1(NM_000391.4):c.509-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6617154C>T" "" "pathogenic" "" "0000545170" "0" "10" "11" "6638669" "6638669" "dup" "0" "02326" "DCHS1_000120" "g.6638669dup" "" "" "" "TPP1(NM_000391.4):c.381-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6617438dup" "" "benign" "" "0000545171" "0" "90" "11" "6638858" "6638858" "subst" "6.90344E-5" "01943" "TPP1_000038" "g.6638858G>A" "" "" "" "TPP1(NM_000391.3):c.379C>T (p.R127*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6617627G>A" "" "pathogenic" "" "0000545172" "0" "30" "11" "6638938" "6638938" "subst" "0.00226616" "02326" "TPP1_000058" "g.6638938T>C" "" "" "" "TPP1(NM_000391.3):c.299A>G (p.Q100R, p.(Gln100Arg)), TPP1(NM_000391.4):c.299A>G (p.Q100R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6617707T>C" "" "likely benign" "" "0000545173" "0" "30" "11" "6638944" "6638944" "subst" "0.00136463" "01943" "DCHS1_000121" "g.6638944G>A" "" "" "" "TPP1(NM_000391.3):c.293C>T (p.T98M), TPP1(NM_000391.4):c.293C>T (p.T98M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6617713G>A" "" "likely benign" "" "0000545174" "0" "30" "11" "6638944" "6638944" "subst" "0.00136463" "02326" "DCHS1_000121" "g.6638944G>A" "" "" "" "TPP1(NM_000391.3):c.293C>T (p.T98M), TPP1(NM_000391.4):c.293C>T (p.T98M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6617713G>A" "" "likely benign" "" "0000545176" "0" "30" "11" "6640618" "6640618" "subst" "0.00114509" "01943" "TPP1_000147" "g.6640618G>T" "" "" "" "TPP1(NM_000391.3):c.14C>A (p.A5D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6619387G>T" "" "likely benign" "" "0000545177" "0" "30" "11" "6643057" "6643057" "subst" "0.000189515" "01943" "DCHS1_000123" "g.6643057C>T" "" "" "" "DCHS1(NM_003737.2):c.9853G>A (p.E3285K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621826C>T" "" "likely benign" "" "0000545178" "0" "30" "11" "6643298" "6643298" "subst" "0.000890116" "01943" "DCHS1_000124" "g.6643298G>C" "" "" "" "DCHS1(NM_003737.2):c.9612C>G (p.L3204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6622067G>C" "" "likely benign" "" "0000545180" "0" "50" "11" "6643576" "6643576" "subst" "0" "01804" "DCHS1_000126" "g.6643576C>T" "" "" "" "DCHS1(NM_003737.2):c.9331G>A (p.(Gly3111Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6622345C>T" "" "VUS" "" "0000545181" "0" "50" "11" "6643612" "6643612" "subst" "0.000200633" "01943" "DCHS1_000127" "g.6643612G>A" "" "" "" "DCHS1(NM_003737.2):c.9298C>T (p.P3100S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6622381G>A" "" "VUS" "" "0000545182" "0" "50" "11" "6643753" "6643753" "subst" "0" "01943" "DCHS1_000128" "g.6643753G>A" "" "" "" "DCHS1(NM_003737.2):c.9157C>T (p.L3053=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6622522G>A" "" "VUS" "" "0000545183" "0" "50" "11" "6644023" "6644023" "subst" "0" "02325" "DCHS1_000014" "g.6644023G>A" "" "" "" "DCHS1(NM_003737.2):c.8884C>T (p.(Arg2962Trp)), DCHS1(NM_003737.4):c.8884C>T (p.R2962W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6622792G>A" "" "VUS" "" "0000545184" "0" "50" "11" "6644149" "6644149" "subst" "0.000853521" "01943" "DCHS1_000017" "g.6644149C>T" "" "" "" "DCHS1(NM_003737.2):c.8761G>A (p.D2921N), DCHS1(NM_003737.4):c.8758G>A (p.V2920M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6622918C>T" "" "VUS" "" "0000545186" "0" "30" "11" "6644270" "6644270" "subst" "0" "01943" "DCHS1_000019" "g.6644270G>A" "" "" "" "DCHS1(NM_003737.2):c.8640C>T (p.G2880=), DCHS1(NM_003737.4):c.8637C>T (p.S2879=, p.(Ser2879=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6623039G>A" "" "likely benign" "" "0000545187" "0" "30" "11" "6644308" "6644308" "subst" "0.00547244" "01804" "DCHS1_000020" "g.6644308C>T" "" "" "" "DCHS1(NM_003737.2):c.8599G>A (p.(Ala2867Thr)), DCHS1(NM_003737.4):c.8599G>A (p.A2867T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6623077C>T" "" "likely benign" "" "0000545190" "0" "30" "11" "6644464" "6644464" "subst" "9.47724E-5" "01943" "DCHS1_000024" "g.6644464C>T" "" "" "" "DCHS1(NM_003737.2):c.8446G>A (p.A2816T), DCHS1(NM_003737.4):c.8443G>A (p.A2815T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6623233C>T" "" "likely benign" "" "0000545191" "0" "30" "11" "6644643" "6644643" "subst" "0.000183879" "01943" "DCHS1_000131" "g.6644643C>T" "" "" "" "DCHS1(NM_003737.2):c.8267G>A (p.G2756E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6623412C>T" "" "likely benign" "" "0000545192" "0" "30" "11" "6644711" "6644711" "subst" "0.00199388" "01943" "DCHS1_000132" "g.6644711G>A" "" "" "" "DCHS1(NM_003737.2):c.8199C>T (p.G2733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6623480G>A" "" "likely benign" "" "0000545197" "0" "30" "11" "6645459" "6645459" "subst" "0.000886568" "01943" "DCHS1_000135" "g.6645459G>A" "" "" "" "DCHS1(NM_003737.2):c.7448C>T (p.(Thr2483Ile)), DCHS1(NM_003737.2):c.7451C>T (p.S2484L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6624228G>A" "" "likely benign" "" "0000545198" "0" "30" "11" "6645459" "6645459" "subst" "0.000886568" "01804" "DCHS1_000135" "g.6645459G>A" "" "" "" "DCHS1(NM_003737.2):c.7448C>T (p.(Thr2483Ile)), DCHS1(NM_003737.2):c.7451C>T (p.S2484L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6624228G>A" "" "likely benign" "" "0000545200" "0" "50" "11" "6645468" "6645468" "subst" "4.09591E-6" "01943" "DCHS1_000136" "g.6645468G>A" "" "" "" "DCHS1(NM_003737.2):c.7442C>T (p.T2481I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6624237G>A" "" "VUS" "" "0000545202" "0" "10" "11" "6645522" "6645522" "subst" "0.0132526" "02330" "DCHS1_000137" "g.6645522C>T" "" "" "" "DCHS1(NM_003737.2):c.7385G>A (p.(Arg2462Gln)), DCHS1(NM_003737.2):c.7388G>A (p.G2463E), DCHS1(NM_003737.4):c.7385G>A (p.R2462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6624291C>T" "" "benign" "" "0000545203" "0" "50" "11" "6645522" "6645522" "subst" "0.0132526" "01943" "DCHS1_000137" "g.6645522C>T" "" "" "" "DCHS1(NM_003737.2):c.7385G>A (p.(Arg2462Gln)), DCHS1(NM_003737.2):c.7388G>A (p.G2463E), DCHS1(NM_003737.4):c.7385G>A (p.R2462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6624291C>T" "" "VUS" "" "0000545214" "0" "50" "11" "6646039" "6646039" "subst" "0.000410569" "01943" "DCHS1_000139" "g.6646039G>A" "" "" "" "DCHS1(NM_003737.2):c.7207C>T (p.R2403W), DCHS1(NM_003737.4):c.7207C>T (p.R2403W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6624808G>A" "" "VUS" "" "0000545215" "0" "50" "11" "6646039" "6646039" "subst" "0.000410569" "02325" "DCHS1_000139" "g.6646039G>A" "" "" "" "DCHS1(NM_003737.2):c.7207C>T (p.R2403W), DCHS1(NM_003737.4):c.7207C>T (p.R2403W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6624808G>A" "" "VUS" "" "0000545218" "0" "50" "11" "6646466" "6646466" "subst" "4.14048E-6" "01943" "DCHS1_000140" "g.6646466T>C" "" "" "" "DCHS1(NM_003737.2):c.7109A>G (p.N2370S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6625235T>C" "" "VUS" "" "0000545220" "0" "50" "11" "6646537" "6646537" "subst" "6.10451E-5" "01943" "DCHS1_000141" "g.6646537C>A" "" "" "" "DCHS1(NM_003737.2):c.7038G>T (p.Q2346H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6625306C>A" "" "VUS" "" "0000545221" "0" "30" "11" "6646584" "6646584" "subst" "0.0199563" "01804" "DCHS1_000081" "g.6646584C>T" "" "" "" "DCHS1(NM_003737.2):c.6991G>A (p.V2331I, p.(Val2331Ile)), DCHS1(NM_003737.4):c.6991G>A (p.V2331I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6625353C>T" "" "likely benign" "" "0000545222" "0" "30" "11" "6646614" "6646614" "subst" "0" "01943" "DCHS1_000142" "g.6646614G>T" "" "" "" "DCHS1(NM_003737.2):c.6961C>A (p.P2321T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6625383G>T" "" "likely benign" "" "0000545224" "0" "30" "11" "6646678" "6646678" "subst" "2.93878E-5" "01943" "DCHS1_000143" "g.6646678T>C" "" "" "" "DCHS1(NM_003737.2):c.6897A>G (p.T2299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6625447T>C" "" "likely benign" "" "0000545227" "0" "30" "11" "6646731" "6646731" "subst" "0.000535019" "02330" "DCHS1_000144" "g.6646731G>T" "" "" "" "DCHS1(NM_003737.2):c.6863-19C>A, DCHS1(NM_003737.4):c.6863-19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6625500G>T" "" "likely benign" "" "0000545228" "0" "30" "11" "6646731" "6646731" "subst" "0.000535019" "01943" "DCHS1_000144" "g.6646731G>T" "" "" "" "DCHS1(NM_003737.2):c.6863-19C>A, DCHS1(NM_003737.4):c.6863-19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6625500G>T" "" "likely benign" "" "0000545229" "0" "30" "11" "6646839" "6646839" "subst" "3.25375E-5" "01943" "DCHS1_000145" "g.6646839C>T" "" "" "" "DCHS1(NM_003737.2):c.6851G>A (p.R2284Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6625608C>T" "" "likely benign" "" "0000545232" "0" "10" "11" "6646898" "6646898" "subst" "0.00675225" "02330" "DCHS1_000146" "g.6646898C>T" "" "" "" "DCHS1(NM_003737.2):c.6792G>A (p.T2264=), DCHS1(NM_003737.4):c.6792G>A (p.T2264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6625667C>T" "" "benign" "" "0000545233" "0" "30" "11" "6646898" "6646898" "subst" "0.00675225" "01943" "DCHS1_000146" "g.6646898C>T" "" "" "" "DCHS1(NM_003737.2):c.6792G>A (p.T2264=), DCHS1(NM_003737.4):c.6792G>A (p.T2264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6625667C>T" "" "likely benign" "" "0000545235" "0" "30" "11" "6646958" "6646958" "subst" "0.00186109" "02330" "DCHS1_000147" "g.6646958C>T" "" "" "" "DCHS1(NM_003737.4):c.6732G>A (p.R2244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6625727C>T" "" "likely benign" "" "0000545246" "0" "50" "11" "6647410" "6647410" "subst" "0" "01943" "DCHS1_000149" "g.6647410G>A" "" "" "" "DCHS1(NM_003737.2):c.6566C>T (p.P2189L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6626179G>A" "" "VUS" "" "0000545247" "0" "30" "11" "6647459" "6647459" "subst" "0" "01943" "DCHS1_000150" "g.6647459G>A" "" "" "" "DCHS1(NM_003737.2):c.6517C>T (p.R2173W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6626228G>A" "" "likely benign" "" "0000545248" "0" "10" "11" "6647461" "6647461" "subst" "0.00473957" "02330" "DCHS1_000085" "g.6647461A>T" "" "" "" "DCHS1(NM_003737.2):c.6515T>A (p.L2172Q), DCHS1(NM_003737.4):c.6515T>A (p.L2172Q, p.(Leu2172Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6626230A>T" "" "benign" "" "0000545249" "0" "30" "11" "6647461" "6647461" "subst" "0.00473957" "01804" "DCHS1_000085" "g.6647461A>T" "" "" "" "DCHS1(NM_003737.2):c.6515T>A (p.L2172Q), DCHS1(NM_003737.4):c.6515T>A (p.L2172Q, p.(Leu2172Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6626230A>T" "" "likely benign" "" "0000545250" "0" "30" "11" "6647481" "6647481" "subst" "0.000735415" "01943" "DCHS1_000152" "g.6647481G>A" "" "" "" "DCHS1(NM_003737.2):c.6495C>T (p.N2165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6626250G>A" "" "likely benign" "" "0000545251" "0" "10" "11" "6647497" "6647497" "subst" "0.00751095" "02330" "DCHS1_000153" "g.6647497G>A" "" "" "" "DCHS1(NM_003737.2):c.6479C>T (p.T2160I, p.(Thr2160Ile)), DCHS1(NM_003737.4):c.6479C>T (p.T2160I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6626266G>A" "" "benign" "" "0000545252" "0" "30" "11" "6647497" "6647497" "subst" "0.00751095" "01943" "DCHS1_000153" "g.6647497G>A" "" "" "" "DCHS1(NM_003737.2):c.6479C>T (p.T2160I, p.(Thr2160Ile)), DCHS1(NM_003737.4):c.6479C>T (p.T2160I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6626266G>A" "" "likely benign" "" "0000545253" "0" "30" "11" "6647497" "6647497" "subst" "0.00751095" "01804" "DCHS1_000153" "g.6647497G>A" "" "" "" "DCHS1(NM_003737.2):c.6479C>T (p.T2160I, p.(Thr2160Ile)), DCHS1(NM_003737.4):c.6479C>T (p.T2160I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6626266G>A" "" "likely benign" "" "0000545255" "0" "50" "11" "6647554" "6647554" "subst" "0.000134566" "01943" "DCHS1_000154" "g.6647554C>T" "" "" "" "DCHS1(NM_003737.2):c.6422G>A (p.R2141Q), DCHS1(NM_003737.4):c.6422G>A (p.R2141Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6626323C>T" "" "VUS" "" "0000545256" "0" "50" "11" "6647554" "6647554" "subst" "0.000134566" "02325" "DCHS1_000154" "g.6647554C>T" "" "" "" "DCHS1(NM_003737.2):c.6422G>A (p.R2141Q), DCHS1(NM_003737.4):c.6422G>A (p.R2141Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6626323C>T" "" "VUS" "" "0000545260" "0" "30" "11" "6647851" "6647851" "subst" "0" "01804" "DCHS1_000156" "g.6647851T>C" "" "" "" "DCHS1(NM_003737.2):c.6296A>G (p.(Asn2099Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6626620T>C" "" "likely benign" "" "0000545262" "0" "50" "11" "6648298" "6648298" "subst" "0.000406507" "02325" "DCHS1_000039" "g.6648298C>T" "" "" "" "DCHS1(NM_003737.2):c.5972G>A (p.R1991H), DCHS1(NM_003737.4):c.5972G>A (p.(Arg1991His), p.R1991H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6627067C>T" "" "VUS" "" "0000545264" "0" "10" "11" "6648388" "6648388" "subst" "0.00463325" "02330" "DCHS1_000157" "g.6648388G>A" "" "" "" "DCHS1(NM_003737.2):c.5882C>T (p.P1961L), DCHS1(NM_003737.4):c.5882C>T (p.P1961L, p.(Pro1961Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6627157G>A" "" "benign" "" "0000545265" "0" "10" "11" "6648388" "6648388" "subst" "0.00463325" "01943" "DCHS1_000157" "g.6648388G>A" "" "" "" "DCHS1(NM_003737.2):c.5882C>T (p.P1961L), DCHS1(NM_003737.4):c.5882C>T (p.P1961L, p.(Pro1961Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6627157G>A" "" "benign" "" "0000545267" "0" "50" "11" "6648593" "6648593" "subst" "4.30104E-6" "02325" "DCHS1_000159" "g.6648593A>G" "" "" "" "DCHS1(NM_003737.4):c.5677T>C (p.Y1893H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6627362A>G" "" "VUS" "" "0000545268" "0" "30" "11" "6648666" "6648666" "subst" "0.000555467" "01943" "DCHS1_000091" "g.6648666C>T" "" "" "" "DCHS1(NM_003737.2):c.5604G>A (p.V1868=), DCHS1(NM_003737.4):c.5604G>A (p.V1868=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6627435C>T" "" "likely benign" "" "0000545269" "0" "50" "11" "6648671" "6648671" "subst" "2.92691E-5" "02325" "DCHS1_000160" "g.6648671C>A" "" "" "" "DCHS1(NM_003737.4):c.5599G>T (p.D1867Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6627440C>A" "" "VUS" "" "0000545270" "0" "50" "11" "6648703" "6648703" "subst" "0.000323971" "01943" "DCHS1_000161" "g.6648703G>T" "" "" "" "DCHS1(NM_003737.2):c.5567C>A (p.P1856H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6627472G>T" "" "VUS" "" "0000545271" "0" "30" "11" "6648709" "6648709" "subst" "0" "01943" "DCHS1_000162" "g.6648709G>A" "" "" "" "DCHS1(NM_003737.2):c.5561C>T (p.A1854V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6627478G>A" "" "likely benign" "" "0000545272" "0" "30" "11" "6650684" "6650684" "subst" "0.00986241" "02330" "DCHS1_000165" "g.6650684T>A" "" "" "" "DCHS1(NM_003737.2):c.5160A>T (p.T1720=, p.(=)), DCHS1(NM_003737.4):c.5160A>T (p.T1720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6629453T>A" "" "likely benign" "" "0000545273" "0" "50" "11" "6650684" "6650684" "subst" "0.00986241" "01943" "DCHS1_000165" "g.6650684T>A" "" "" "" "DCHS1(NM_003737.2):c.5160A>T (p.T1720=, p.(=)), DCHS1(NM_003737.4):c.5160A>T (p.T1720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6629453T>A" "" "VUS" "" "0000545274" "0" "30" "11" "6650684" "6650684" "subst" "0.00986241" "01804" "DCHS1_000165" "g.6650684T>A" "" "" "" "DCHS1(NM_003737.2):c.5160A>T (p.T1720=, p.(=)), DCHS1(NM_003737.4):c.5160A>T (p.T1720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6629453T>A" "" "likely benign" "" "0000545275" "0" "10" "11" "6650717" "6650717" "subst" "0.00142416" "01943" "DCHS1_000166" "g.6650717C>T" "" "" "" "DCHS1(NM_003737.2):c.5127G>A (p.L1709=), DCHS1(NM_003737.4):c.5127G>A (p.L1709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6629486C>T" "" "benign" "" "0000545276" "0" "30" "11" "6650771" "6650771" "subst" "8.1584E-6" "01943" "DCHS1_000167" "g.6650771G>A" "" "" "" "DCHS1(NM_003737.2):c.5073C>T (p.S1691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6629540G>A" "" "likely benign" "" "0000545277" "0" "30" "11" "6650893" "6650893" "dup" "0" "02330" "DCHS1_000168" "g.6650893dup" "" "" "" "DCHS1(NM_003737.4):c.5035+16dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6629662dup" "" "likely benign" "" "0000545278" "0" "30" "11" "6651000" "6651000" "subst" "0.00159004" "01943" "DCHS1_000096" "g.6651000C>A" "" "" "" "DCHS1(NM_003737.2):c.4938G>T (p.A1646=), DCHS1(NM_003737.4):c.4938G>T (p.A1646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6629769C>A" "" "likely benign" "" "0000545279" "0" "30" "11" "6651103" "6651103" "subst" "0.000673123" "02330" "DCHS1_000170" "g.6651103C>T" "" "" "" "DCHS1(NM_003737.2):c.4835G>A (p.(Arg1612Gln)), DCHS1(NM_003737.4):c.4835G>A (p.R1612Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6629872C>T" "" "likely benign" "" "0000545280" "0" "30" "11" "6651103" "6651103" "subst" "0.000673123" "01804" "DCHS1_000170" "g.6651103C>T" "" "" "" "DCHS1(NM_003737.2):c.4835G>A (p.(Arg1612Gln)), DCHS1(NM_003737.4):c.4835G>A (p.R1612Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6629872C>T" "" "likely benign" "" "0000545286" "0" "30" "11" "6651470" "6651470" "subst" "0.00134501" "02330" "DCHS1_000073" "g.6651470G>A" "" "" "" "DCHS1(NM_003737.2):c.4555C>T (p.P1519S, p.(Pro1519Ser)), DCHS1(NM_003737.4):c.4555C>T (p.P1519S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6630239G>A" "" "likely benign" "" "0000545287" "0" "30" "11" "6651470" "6651470" "subst" "0.00134501" "02325" "DCHS1_000073" "g.6651470G>A" "" "" "" "DCHS1(NM_003737.2):c.4555C>T (p.P1519S, p.(Pro1519Ser)), DCHS1(NM_003737.4):c.4555C>T (p.P1519S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6630239G>A" "" "likely benign" "" "0000545288" "0" "10" "11" "6651546" "6651546" "subst" "0.0135766" "02330" "DCHS1_000172" "g.6651546C>T" "" "" "" "DCHS1(NM_003737.4):c.4479G>A (p.G1493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6630315C>T" "" "benign" "" "0000545290" "0" "30" "11" "6651633" "6651633" "subst" "0" "01943" "DCHS1_000174" "g.6651633G>A" "" "" "" "DCHS1(NM_003737.2):c.4392C>T (p.D1464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6630402G>A" "" "likely benign" "" "0000545291" "0" "30" "11" "6651772" "6651772" "subst" "1.58592E-5" "01804" "DCHS1_000176" "g.6651772C>A" "" "" "" "DCHS1(NM_003737.2):c.4253G>T (p.(Arg1418Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6630541C>A" "" "likely benign" "" "0000545293" "0" "30" "11" "6651953" "6651953" "subst" "0.00254999" "01943" "DCHS1_000105" "g.6651953C>T" "" "" "" "DCHS1(NM_003737.2):c.4072G>A (p.E1358K, p.(Glu1358Lys)), DCHS1(NM_003737.4):c.4072G>A (p.E1358K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6630722C>T" "" "likely benign" "" "0000545294" "0" "10" "11" "6651975" "6651975" "subst" "0.0130531" "02330" "DCHS1_000107" "g.6651975C>G" "" "" "" "DCHS1(NM_003737.2):c.4050G>C (p.L1350=), DCHS1(NM_003737.4):c.4050G>C (p.L1350=, p.(Leu1350=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6630744C>G" "" "benign" "" "0000545295" "0" "10" "11" "6652416" "6652416" "subst" "0.0184746" "02330" "DCHS1_000108" "g.6652416C>T" "" "" "" "DCHS1(NM_003737.2):c.3798G>A (p.L1266=), DCHS1(NM_003737.4):c.3798G>A (p.L1266=, p.(Leu1266=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6631185C>T" "" "benign" "" "0000545296" "0" "50" "11" "6652628" "6652628" "subst" "0.00021605" "02325" "DCHS1_000178" "g.6652628C>T" "" "" "" "DCHS1(NM_003737.2):c.3686G>A (p.R1229H), DCHS1(NM_003737.4):c.3686G>A (p.(Arg1229His), p.R1229H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6631397C>T" "" "VUS" "" "0000545297" "0" "50" "11" "6652935" "6652935" "subst" "0" "01943" "DCHS1_000180" "g.6652935G>T" "" "" "" "DCHS1(NM_003737.2):c.3587C>A (p.T1196N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6631704G>T" "" "VUS" "" "0000545298" "0" "50" "11" "6652999" "6652999" "subst" "4.55191E-6" "01943" "DCHS1_000181" "g.6652999T>C" "" "" "" "DCHS1(NM_003737.2):c.3523A>G (p.S1175G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6631768T>C" "" "VUS" "" "0000545299" "0" "30" "11" "6653272" "6653272" "subst" "0" "01943" "DCHS1_000182" "g.6653272G>A" "" "" "" "DCHS1(NM_003737.2):c.3471C>T (p.H1157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6632041G>A" "" "likely benign" "" "0000545301" "0" "50" "11" "6653559" "6653559" "subst" "0.000272134" "01943" "DCHS1_000184" "g.6653559G>C" "" "" "" "DCHS1(NM_003737.2):c.3184C>G (p.R1062G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6632328G>C" "" "VUS" "" "0000545302" "0" "10" "11" "6653567" "6653567" "subst" "0.00420782" "02330" "DCHS1_000116" "g.6653567G>T" "" "" "" "DCHS1(NM_003737.2):c.3176C>A (p.A1059E, p.(Ala1059Glu)), DCHS1(NM_003737.4):c.3176C>A (p.A1059E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6632336G>T" "" "benign" "" "0000545303" "0" "30" "11" "6653585" "6653585" "subst" "0.00358301" "01804" "DCHS1_000117" "g.6653585C>G" "" "" "" "DCHS1(NM_003737.2):c.3158G>C (p.W1053S), DCHS1(NM_003737.4):c.3158G>C (p.W1053S, p.(Trp1053Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6632354C>G" "" "likely benign" "" "0000545305" "0" "30" "11" "6653715" "6653715" "subst" "4.5568E-6" "01943" "DCHS1_000187" "g.6653715G>A" "" "" "" "DCHS1(NM_003737.2):c.3028C>T (p.P1010S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6632484G>A" "" "likely benign" "" "0000545307" "0" "30" "11" "6653768" "6653768" "subst" "0.00129901" "01804" "DCHS1_000043" "g.6653768C>T" "" "" "" "DCHS1(NM_003737.2):c.2975G>A (p.G992E, p.(Gly992Glu)), DCHS1(NM_003737.4):c.2975G>A (p.G992E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6632537C>T" "" "likely benign" "" "0000545308" "0" "30" "11" "6653790" "6653790" "subst" "0.00192615" "02330" "DCHS1_000044" "g.6653790G>A" "" "" "" "DCHS1(NM_003737.4):c.2953C>T (p.R985W, p.(Arg985Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6632559G>A" "" "likely benign" "" "0000545309" "0" "50" "11" "6653811" "6653811" "subst" "0.0002826" "01943" "DCHS1_000188" "g.6653811G>A" "" "" "" "DCHS1(NM_003737.2):c.2932C>T (p.R978C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6632580G>A" "" "VUS" "" "0000545310" "0" "30" "11" "6653941" "6653941" "subst" "0" "01943" "DCHS1_000189" "g.6653941A>C" "" "" "" "DCHS1(NM_003737.2):c.2802T>G (p.L934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6632710A>C" "" "likely benign" "" "0000545311" "0" "30" "11" "6653988" "6653988" "subst" "0.000192754" "01943" "DCHS1_000190" "g.6653988G>A" "" "" "" "DCHS1(NM_003737.2):c.2755C>T (p.L919F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6632757G>A" "" "likely benign" "" "0000545312" "0" "30" "11" "6654101" "6654101" "subst" "1.21847E-5" "02325" "DCHS1_000191" "g.6654101C>T" "" "" "" "DCHS1(NM_003737.4):c.2642G>A (p.R881H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6632870C>T" "" "likely benign" "" "0000545314" "0" "30" "11" "6654195" "6654195" "subst" "0.0010531" "01804" "DCHS1_000193" "g.6654195G>A" "" "" "" "DCHS1(NM_003737.2):c.2548C>T (p.R850C, p.(Arg850Cys)), DCHS1(NM_003737.4):c.2548C>T (p.R850C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6632964G>A" "" "likely benign" "" "0000545315" "0" "30" "11" "6654303" "6654303" "subst" "0" "02330" "DCHS1_000194" "g.6654303A>G" "" "" "" "DCHS1(NM_003737.4):c.2456-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6633072A>G" "" "likely benign" "" "0000545316" "0" "30" "11" "6655115" "6655115" "subst" "0.000150317" "01804" "DCHS1_000195" "g.6655115C>T" "" "" "" "DCHS1(NM_003737.2):c.2123G>A (p.R708H, p.(Arg708His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6633884C>T" "" "likely benign" "" "0000545317" "0" "30" "11" "6655176" "6655176" "subst" "8.9343E-5" "01943" "DCHS1_000196" "g.6655176G>A" "" "" "" "DCHS1(NM_003737.2):c.2062C>T (p.R688W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6633945G>A" "" "likely benign" "" "0000545318" "0" "50" "11" "6655238" "6655238" "subst" "0.000227622" "01943" "DCHS1_000048" "g.6655238G>C" "" "" "" "DCHS1(NM_003737.2):c.2000C>G (p.S667C), DCHS1(NM_003737.4):c.2000C>G (p.S667C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6634007G>C" "" "VUS" "" "0000545319" "0" "50" "11" "6655359" "6655359" "subst" "0" "01943" "DCHS1_000197" "g.6655359G>T" "" "" "" "DCHS1(NM_003737.2):c.1976C>A (p.A659D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6634128G>T" "" "VUS" "" "0000545320" "0" "50" "11" "6655399" "6655399" "subst" "0.000281385" "01943" "DCHS1_000198" "g.6655399G>C" "" "" "" "DCHS1(NM_003737.2):c.1936C>G (p.R646G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6634168G>C" "" "VUS" "" "0000545321" "0" "50" "11" "6655462" "6655462" "subst" "8.94055E-5" "01943" "DCHS1_000199" "g.6655462C>T" "" "" "" "DCHS1(NM_003737.2):c.1873G>A (p.G625R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6634231C>T" "" "VUS" "" "0000545322" "0" "50" "11" "6655503" "6655503" "subst" "4.10627E-6" "01804" "DCHS1_000200" "g.6655503C>T" "" "" "" "DCHS1(NM_003737.2):c.1832G>A (p.(Gly611Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6634272C>T" "" "VUS" "" "0000545323" "0" "30" "11" "6655520" "6655520" "subst" "2.08983E-5" "01943" "DCHS1_000201" "g.6655520C>T" "" "" "" "DCHS1(NM_003737.2):c.1815G>A (p.A605=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6634289C>T" "" "likely benign" "" "0000545324" "0" "30" "11" "6661051" "6661051" "subst" "0.00175695" "01943" "DCHS1_000202" "g.6661051C>A" "" "" "" "DCHS1(NM_003737.2):c.1794G>T (p.L598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6639820C>A" "" "likely benign" "" "0000545326" "0" "30" "11" "6661117" "6661117" "subst" "0" "01943" "DCHS1_000203" "g.6661117G>A" "" "" "" "DCHS1(NM_003737.2):c.1728C>T (p.P576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6639886G>A" "" "likely benign" "" "0000545327" "0" "30" "11" "6661189" "6661189" "subst" "4.06118E-6" "01943" "DCHS1_000204" "g.6661189A>G" "" "" "" "DCHS1(NM_003737.2):c.1656T>C (p.D552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6639958A>G" "" "likely benign" "" "0000545328" "0" "30" "11" "6661299" "6661299" "subst" "0.000849642" "01943" "DCHS1_000205" "g.6661299C>T" "" "" "" "DCHS1(NM_003737.2):c.1546G>A (p.A516T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6640068C>T" "" "likely benign" "" "0000545329" "0" "30" "11" "6661324" "6661324" "subst" "1.62995E-5" "01943" "DCHS1_000057" "g.6661324C>G" "" "" "" "DCHS1(NM_003737.2):c.1521G>C (p.Q507H, p.(Gln507His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6640093C>G" "" "likely benign" "" "0000545330" "0" "30" "11" "6661352" "6661352" "subst" "0.00124622" "01943" "DCHS1_000206" "g.6661352C>T" "" "" "" "DCHS1(NM_003737.2):c.1493G>A (p.R498Q, p.(Arg498Gln)), DCHS1(NM_003737.4):c.1493G>A (p.R498Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6640121C>T" "" "likely benign" "" "0000545331" "0" "30" "11" "6661352" "6661352" "subst" "0.00124622" "01804" "DCHS1_000206" "g.6661352C>T" "" "" "" "DCHS1(NM_003737.2):c.1493G>A (p.R498Q, p.(Arg498Gln)), DCHS1(NM_003737.4):c.1493G>A (p.R498Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6640121C>T" "" "likely benign" "" "0000545332" "0" "50" "11" "6661388" "6661388" "subst" "6.1216E-5" "01943" "DCHS1_000207" "g.6661388G>A" "" "" "" "DCHS1(NM_003737.2):c.1457C>T (p.A486V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6640157G>A" "" "VUS" "" "0000545333" "0" "50" "11" "6661562" "6661562" "subst" "1.25328E-5" "01943" "DCHS1_000208" "g.6661562C>T" "" "" "" "DCHS1(NM_003737.2):c.1283G>A (p.R428Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6640331C>T" "" "VUS" "" "0000545336" "0" "30" "11" "6661744" "6661744" "subst" "4.90328E-5" "01943" "DCHS1_000209" "g.6661744G>A" "" "" "" "DCHS1(NM_003737.2):c.1101C>T (p.L367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6640513G>A" "" "likely benign" "" "0000545341" "0" "50" "11" "6661959" "6661959" "subst" "2.4421E-5" "01943" "DCHS1_000211" "g.6661959G>C" "" "" "" "DCHS1(NM_003737.2):c.886C>G (p.R296G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6640728G>C" "" "VUS" "" "0000545343" "0" "30" "11" "6662056" "6662056" "subst" "0" "01943" "DCHS1_000212" "g.6662056C>G" "" "" "" "DCHS1(NM_003737.2):c.789G>C (p.V263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6640825C>G" "" "likely benign" "" "0000545344" "0" "30" "11" "6662056" "6662056" "subst" "0" "01943" "DCHS1_000213" "g.6662056C>T" "" "" "" "DCHS1(NM_003737.2):c.789G>A (p.V263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6640825C>T" "" "likely benign" "" "0000545346" "0" "30" "11" "6662086" "6662086" "subst" "0.000280317" "01943" "DCHS1_000215" "g.6662086C>T" "" "" "" "DCHS1(NM_003737.2):c.759G>A (p.P253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6640855C>T" "" "likely benign" "" "0000545347" "0" "30" "11" "6662249" "6662249" "subst" "0.00157395" "01804" "DCHS1_000063" "g.6662249G>C" "" "" "" "DCHS1(NM_003737.2):c.596C>G (p.P199R, p.(Pro199Arg)), DCHS1(NM_003737.4):c.596C>G (p.P199R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6641018G>C" "" "likely benign" "" "0000545348" "0" "30" "11" "6662299" "6662299" "subst" "4.87718E-5" "02330" "DCHS1_000216" "g.6662299T>C" "" "" "" "DCHS1(NM_003737.4):c.546A>G (p.L182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6641068T>C" "" "likely benign" "" "0000545349" "0" "30" "11" "6662342" "6662342" "subst" "9.75713E-5" "01804" "DCHS1_000217" "g.6662342C>T" "" "" "" "DCHS1(NM_003737.2):c.503G>A (p.(Arg168His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6641111C>T" "" "likely benign" "" "0000545350" "0" "70" "11" "6662406" "6662406" "subst" "0" "01804" "DCHS1_000218" "g.6662406G>A" "" "" "" "DCHS1(NM_003737.2):c.439C>T (p.(Arg147Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6641175G>A" "" "likely pathogenic" "" "0000545351" "0" "10" "11" "6662466" "6662466" "subst" "0.00626485" "02330" "DCHS1_000219" "g.6662466C>T" "" "" "" "DCHS1(NM_003737.2):c.379G>A (p.V127I), DCHS1(NM_003737.4):c.379G>A (p.V127I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6641235C>T" "" "benign" "" "0000545352" "0" "50" "11" "6662466" "6662466" "subst" "0.00626485" "01943" "DCHS1_000219" "g.6662466C>T" "" "" "" "DCHS1(NM_003737.2):c.379G>A (p.V127I), DCHS1(NM_003737.4):c.379G>A (p.V127I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6641235C>T" "" "VUS" "" "0000545354" "0" "30" "11" "6662545" "6662545" "subst" "5.28898E-5" "01943" "DCHS1_000220" "g.6662545G>A" "" "" "" "DCHS1(NM_003737.2):c.300C>T (p.V100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6641314G>A" "" "likely benign" "" "0000545355" "0" "30" "11" "6662659" "6662659" "subst" "0.000375289" "01943" "DCHS1_000221" "g.6662659G>A" "" "" "" "DCHS1(NM_003737.2):c.186C>T (p.G62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6641428G>A" "" "likely benign" "" "0000545357" "0" "10" "11" "6662769" "6662771" "del" "0" "02330" "DCHS1_000223" "g.6662769_6662771del" "" "" "" "DCHS1(NM_003737.4):c.97_99delCTG (p.L33del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6641538_6641540del" "" "benign" "" "0000545359" "0" "30" "11" "6662769" "6662771" "del" "0" "02325" "DCHS1_000223" "g.6662769_6662771del" "" "" "" "DCHS1(NM_003737.4):c.97_99delCTG (p.L33del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6641538_6641540del" "" "likely benign" "" "0000545360" "0" "10" "11" "6662769" "6662771" "dup" "0" "01943" "DCHS1_000224" "g.6662769_6662771dup" "" "" "" "DCHS1(NM_003737.2):c.95_97dupCTG (p.L33dup), DCHS1(NM_003737.2):c.97_99dup (p.(Leu33dup)), DCHS1(NM_003737.2):c.97_99dupCTG (p.L33dup), DCHS1(NM_0...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6641538_6641540dup" "" "benign" "" "0000545361" "0" "10" "11" "6662769" "6662771" "dup" "0" "02330" "DCHS1_000224" "g.6662769_6662771dup" "" "" "" "DCHS1(NM_003737.2):c.95_97dupCTG (p.L33dup), DCHS1(NM_003737.2):c.97_99dup (p.(Leu33dup)), DCHS1(NM_003737.2):c.97_99dupCTG (p.L33dup), DCHS1(NM_0...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6641538_6641540dup" "" "benign" "" "0000613595" "0" "30" "11" "6640051" "6640051" "subst" "0.00138132" "01804" "DCHS1_000226" "g.6640051G>A" "" "" "" "TPP1(NM_000391.3):c.185C>T (p.(Ser62Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6618820G>A" "" "likely benign" "" "0000613596" "0" "50" "11" "6640117" "6640117" "subst" "2.03414E-5" "01943" "DCHS1_000227" "g.6640117C>T" "" "" "" "TPP1(NM_000391.3):c.119G>A (p.R40H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6618886C>T" "" "VUS" "" "0000613597" "0" "50" "11" "6643110" "6643110" "subst" "0.000355519" "01943" "DCHS1_000228" "g.6643110G>A" "" "" "" "DCHS1(NM_003737.2):c.9800C>T (p.A3267V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621879G>A" "" "VUS" "" "0000613598" "0" "50" "11" "6643542" "6643542" "subst" "0" "02325" "DCHS1_000229" "g.6643542C>T" "" "" "" "DCHS1(NM_003737.4):c.9365G>A (p.G3122D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6622311C>T" "" "VUS" "" "0000613599" "0" "50" "11" "6643810" "6643810" "subst" "0" "02325" "DCHS1_000230" "g.6643810G>A" "" "" "" "DCHS1(NM_003737.4):c.9097C>T (p.R3033*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6622579G>A" "" "VUS" "" "0000613606" "0" "30" "11" "6646545" "6646545" "subst" "0" "01943" "DCHS1_000233" "g.6646545G>A" "" "" "" "DCHS1(NM_003737.2):c.7030C>T (p.R2344C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6625314G>A" "" "likely benign" "" "0000613608" "0" "30" "11" "6647266" "6647266" "subst" "0" "01943" "DCHS1_000235" "g.6647266T>C" "" "" "" "DCHS1(NM_003737.2):c.6616A>G (p.I2206V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6626035T>C" "" "likely benign" "" "0000613611" "0" "50" "11" "6648299" "6648299" "subst" "0.000292673" "01943" "DCHS1_000236" "g.6648299G>T" "" "" "" "DCHS1(NM_003737.2):c.5971C>A (p.R1991S), DCHS1(NM_003737.4):c.5971C>A (p.R1991S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6627068G>T" "" "VUS" "" "0000613612" "0" "30" "11" "6651417" "6651417" "subst" "1.48394E-5" "01943" "DCHS1_000098" "g.6651417G>A" "" "" "" "DCHS1(NM_003737.2):c.4608C>T (p.V1536=), DCHS1(NM_003737.4):c.4608C>T (p.V1536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6630186G>A" "" "likely benign" "" "0000613613" "0" "30" "11" "6652545" "6652545" "subst" "3.65476E-5" "01943" "DCHS1_000238" "g.6652545T>C" "" "" "" "DCHS1(NM_003737.2):c.3769A>G (p.T1257A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6631314T>C" "" "likely benign" "" "0000613614" "0" "50" "11" "6652626" "6652626" "subst" "2.85311E-5" "01804" "DCHS1_000239" "g.6652626C>T" "" "" "" "DCHS1(NM_003737.2):c.3688G>A (p.(Val1230Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6631395C>T" "" "VUS" "" "0000613615" "0" "50" "11" "6652852" "6652852" "subst" "4.80778E-6" "01804" "DCHS1_000240" "g.6652852T>C" "" "" "" "DCHS1(NM_003737.2):c.3670A>G (p.(Ile1224Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6631621T>C" "" "VUS" "" "0000613616" "0" "50" "11" "6653419" "6653435" "del" "0" "01804" "DCHS1_000241" "g.6653419_6653435del" "" "" "" "DCHS1(NM_003737.2):c.3311_3327del (p.(Arg1104HisfsTer7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6632188_6632204del" "" "VUS" "" "0000613617" "0" "30" "11" "6653662" "6653662" "subst" "0.000115435" "01943" "DCHS1_000242" "g.6653662T>A" "" "" "" "DCHS1(NM_003737.2):c.3081A>T (p.P1027=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6632431T>A" "" "likely benign" "" "0000613618" "0" "30" "11" "6655111" "6655111" "subst" "0" "02330" "DCHS1_000243" "g.6655111G>T" "" "" "" "DCHS1(NM_003737.2):c.2127C>A (p.A709=), DCHS1(NM_003737.4):c.2127C>A (p.A709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6633880G>T" "" "likely benign" "" "0000613619" "0" "30" "11" "6655490" "6655490" "subst" "0" "01943" "DCHS1_000244" "g.6655490A>G" "" "" "" "DCHS1(NM_003737.2):c.1845T>C (p.Y615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6634259A>G" "" "likely benign" "" "0000613621" "0" "30" "11" "6661813" "6661813" "subst" "7.45657E-5" "01943" "DCHS1_000246" "g.6661813G>A" "" "" "" "DCHS1(NM_003737.2):c.1032C>T (p.G344=), DCHS1(NM_003737.4):c.1032C>T (p.G344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6640582G>A" "" "likely benign" "" "0000613622" "0" "50" "11" "6662192" "6662192" "subst" "4.87575E-5" "01943" "DCHS1_000248" "g.6662192C>T" "" "" "" "DCHS1(NM_003737.2):c.653G>A (p.R218H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6640961C>T" "" "VUS" "" "0000613623" "0" "50" "11" "6662363" "6662363" "subst" "9.3617E-5" "01943" "DCHS1_000249" "g.6662363C>T" "" "" "" "DCHS1(NM_003737.2):c.482G>A (p.R161H), DCHS1(NM_003737.4):c.482G>A (p.R161H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6641132C>T" "" "VUS" "" "0000613624" "0" "50" "11" "6662363" "6662363" "subst" "9.3617E-5" "02325" "DCHS1_000249" "g.6662363C>T" "" "" "" "DCHS1(NM_003737.2):c.482G>A (p.R161H), DCHS1(NM_003737.4):c.482G>A (p.R161H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6641132C>T" "" "VUS" "" "0000613625" "0" "30" "11" "6662769" "6662771" "dup" "0" "01804" "DCHS1_000224" "g.6662769_6662771dup" "" "" "" "DCHS1(NM_003737.2):c.95_97dupCTG (p.L33dup), DCHS1(NM_003737.2):c.97_99dup (p.(Leu33dup)), DCHS1(NM_003737.2):c.97_99dupCTG (p.L33dup), DCHS1(NM_0...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6641538_6641540dup" "" "likely benign" "" "0000622686" "0" "50" "11" "6638351" "6638351" "subst" "0.000280246" "01943" "DCHS1_000225" "g.6638351G>A" "" "" "" "TPP1(NM_000391.3):c.542C>T (p.S181F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6617120G>A" "" "VUS" "" "0000622688" "0" "70" "11" "6640422" "6640422" "subst" "4.06339E-6" "02325" "TPP1_000014" "g.6640422C>G" "" "" "" "TPP1(NM_000391.4):c.89+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6619191C>G" "" "likely pathogenic" "" "0000622689" "0" "50" "11" "6645108" "6645108" "subst" "4.07827E-6" "01943" "DCHS1_000231" "g.6645108G>A" "" "" "" "DCHS1(NM_003737.2):c.7802C>T (p.A2601V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6623877G>A" "" "VUS" "" "0000622690" "0" "30" "11" "6646055" "6646055" "subst" "1.62565E-5" "02326" "DCHS1_000232" "g.6646055G>A" "" "" "" "DCHS1(NM_003737.4):c.7191C>T (p.S2397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6624824G>A" "" "likely benign" "" "0000622691" "0" "30" "11" "6646654" "6646654" "subst" "0.000168268" "02330" "DCHS1_000234" "g.6646654G>A" "" "" "" "DCHS1(NM_003737.4):c.6921C>T (p.P2307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6625423G>A" "" "likely benign" "" "0000622693" "0" "50" "11" "6648419" "6648419" "subst" "1.22285E-5" "02325" "DCHS1_000158" "g.6648419G>A" "" "" "" "DCHS1(NM_003737.4):c.5851C>T (p.R1951C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6627188G>A" "" "VUS" "" "0000622694" "0" "30" "11" "6648651" "6648651" "subst" "7.94109E-5" "01943" "DCHS1_000237" "g.6648651C>T" "" "" "" "DCHS1(NM_003737.2):c.5619G>A (p.L1873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6627420C>T" "" "likely benign" "" "0000622695" "0" "50" "11" "6648767" "6648767" "subst" "0.00077996" "01943" "DCHS1_000163" "g.6648767G>A" "" "" "" "DCHS1(NM_003737.2):c.5503C>T (p.L1835F), DCHS1(NM_003737.4):c.5503C>T (p.L1835F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6627536G>A" "" "VUS" "" "0000622696" "0" "10" "11" "6650717" "6650717" "subst" "0.00142416" "02330" "DCHS1_000166" "g.6650717C>T" "" "" "" "DCHS1(NM_003737.2):c.5127G>A (p.L1709=), DCHS1(NM_003737.4):c.5127G>A (p.L1709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6629486C>T" "" "benign" "" "0000622697" "0" "10" "11" "6651555" "6651555" "subst" "0.000396249" "02330" "DCHS1_000101" "g.6651555C>G" "" "" "" "DCHS1(NM_003737.2):c.4470G>C (p.A1490=), DCHS1(NM_003737.4):c.4470G>C (p.A1490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6630324C>G" "" "benign" "" "0000622698" "0" "30" "11" "6655115" "6655115" "subst" "0.000150317" "01943" "DCHS1_000195" "g.6655115C>T" "" "" "" "DCHS1(NM_003737.2):c.2123G>A (p.R708H, p.(Arg708His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6633884C>T" "" "likely benign" "" "0000622699" "0" "30" "11" "6661300" "6661300" "subst" "0.00086209" "01943" "DCHS1_000245" "g.6661300G>A" "" "" "" "DCHS1(NM_003737.2):c.1545C>T (p.G515=), DCHS1(NM_003737.4):c.1545C>T (p.G515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6640069G>A" "" "likely benign" "" "0000622700" "0" "30" "11" "6662011" "6662011" "subst" "2.44031E-5" "01943" "DCHS1_000247" "g.6662011G>A" "" "" "" "DCHS1(NM_003737.2):c.834C>T (p.F278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6640780G>A" "" "likely benign" "" "0000648350" "1" "90" "11" "6645369" "6645369" "subst" "0.000420847" "03575" "DCHS1_000076" "g.6645369C>T" "6/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs201457110}" "Germline" "" "rs201457110" "0" "" "" "g.6624138C>T" "" "pathogenic" "" "0000656869" "0" "30" "11" "6644864" "6644864" "subst" "0.000247897" "01943" "DCHS1_000250" "g.6644864G>A" "" "" "" "DCHS1(NM_003737.2):c.8046C>T (p.P2682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6623633G>A" "" "likely benign" "" "0000656873" "0" "30" "11" "6647508" "6647508" "subst" "0" "01943" "DCHS1_000251" "g.6647508C>T" "" "" "" "DCHS1(NM_003737.2):c.6468G>A (p.V2156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6626277C>T" "" "likely benign" "" "0000656875" "0" "50" "11" "6648080" "6648080" "subst" "2.03653E-5" "02325" "DCHS1_000252" "g.6648080G>A" "" "" "" "DCHS1(NM_003737.4):c.6190C>T (p.R2064C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6626849G>A" "" "VUS" "" "0000656877" "0" "50" "11" "6651670" "6651670" "subst" "0" "02325" "DCHS1_000253" "g.6651670C>T" "" "" "" "DCHS1(NM_003737.4):c.4355G>A (p.G1452D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6630439C>T" "" "VUS" "" "0000656878" "0" "50" "11" "6653010" "6653010" "subst" "0" "01943" "DCHS1_000254" "g.6653010C>T" "" "" "" "DCHS1(NM_003737.2):c.3512G>A (p.R1171H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6631779C>T" "" "VUS" "" "0000656879" "0" "10" "11" "6653585" "6653585" "subst" "0.00358301" "02330" "DCHS1_000117" "g.6653585C>G" "" "" "" "DCHS1(NM_003737.2):c.3158G>C (p.W1053S), DCHS1(NM_003737.4):c.3158G>C (p.W1053S, p.(Trp1053Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6632354C>G" "" "benign" "" "0000656880" "0" "50" "11" "6661896" "6661896" "subst" "4.07654E-6" "01943" "DCHS1_000255" "g.6661896C>T" "" "" "" "DCHS1(NM_003737.2):c.949G>A (p.E317K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6640665C>T" "" "VUS" "" "0000656881" "0" "50" "11" "6662559" "6662559" "subst" "0" "01943" "DCHS1_000256" "g.6662559C>T" "" "" "" "DCHS1(NM_003737.2):c.286G>A (p.E96K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6641328C>T" "" "VUS" "" "0000679286" "0" "30" "11" "6640474" "6640474" "subst" "0.000954291" "02326" "DCHS1_000257" "g.6640474G>T" "" "" "" "TPP1(NM_000391.4):c.42C>A (p.I14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679287" "0" "30" "11" "6643073" "6643073" "subst" "0.000320667" "01943" "DCHS1_000258" "g.6643073T>C" "" "" "" "DCHS1(NM_003737.2):c.9837A>G (p.A3279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679288" "0" "30" "11" "6643109" "6643109" "subst" "4.1375E-6" "01943" "DCHS1_000259" "g.6643109G>A" "" "" "" "DCHS1(NM_003737.2):c.9801C>T (p.V3267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679289" "0" "50" "11" "6643638" "6643638" "subst" "0.000517655" "01943" "DCHS1_000260" "g.6643638T>A" "" "" "" "DCHS1(NM_003737.2):c.9272A>T (p.K3091M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679294" "0" "50" "11" "6646870" "6646870" "subst" "1.21958E-5" "02325" "DCHS1_000261" "g.6646870G>A" "" "" "" "DCHS1(NM_003737.4):c.6820C>T (p.R2274C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679297" "0" "30" "11" "6651119" "6651119" "subst" "1.22435E-5" "01943" "DCHS1_000262" "g.6651119A>G" "" "" "" "DCHS1(NM_003737.2):c.4819T>C (p.L1607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679299" "0" "50" "11" "6651883" "6651883" "subst" "0" "01804" "DCHS1_000263" "g.6651883A>C" "" "" "" "DCHS1(NM_003737.2):c.4142T>G (p.(Leu1381Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679300" "0" "50" "11" "6653892" "6653892" "subst" "0" "02325" "DCHS1_000264" "g.6653892G>A" "" "" "" "DCHS1(NM_003737.4):c.2851C>T (p.R951W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679301" "0" "30" "11" "6661378" "6661378" "subst" "5.29937E-5" "01943" "DCHS1_000265" "g.6661378G>T" "" "" "" "DCHS1(NM_003737.2):c.1467C>A (p.G489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691136" "0" "90" "11" "6639000" "6639000" "subst" "0" "01943" "DCHS1_000266" "g.6639000G>T" "" "" "" "TPP1(NM_000391.3):c.237C>A (p.Y79*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691138" "0" "30" "11" "6644149" "6644149" "subst" "0.000853521" "02326" "DCHS1_000017" "g.6644149C>T" "" "" "" "DCHS1(NM_003737.2):c.8761G>A (p.D2921N), DCHS1(NM_003737.4):c.8758G>A (p.V2920M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691139" "0" "50" "11" "6645298" "6645298" "subst" "1.22979E-5" "02326" "DCHS1_000267" "g.6645298G>A" "" "" "" "DCHS1(NM_003737.4):c.7609C>T (p.L2537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691140" "0" "30" "11" "6645635" "6645635" "subst" "0" "02326" "DCHS1_000268" "g.6645635G>A" "" "" "" "DCHS1(NM_003737.4):c.7286-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691141" "0" "30" "11" "6646499" "6646499" "subst" "8.56465E-5" "01943" "DCHS1_000269" "g.6646499C>T" "" "" "" "DCHS1(NM_003737.2):c.7076G>A (p.R2359H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691142" "0" "30" "11" "6646887" "6646887" "subst" "1.62665E-5" "02326" "DCHS1_000270" "g.6646887A>G" "" "" "" "DCHS1(NM_003737.4):c.6803T>C (p.I2268T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691147" "0" "30" "11" "6651527" "6651527" "subst" "0" "01943" "DCHS1_000271" "g.6651527C>T" "" "" "" "DCHS1(NM_003737.2):c.4498G>A (p.G1500S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691150" "0" "50" "11" "6661420" "6661420" "subst" "0" "01943" "DCHS1_000272" "g.6661420C>G" "" "" "" "DCHS1(NM_003737.2):c.1425G>C (p.Q475H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000699802" "0" "50" "11" "0" "0" "" "0" "00006" "DRD4_000002" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000699817" "0" "70" "11" "0" "0" "" "0" "00006" "DRD4_000002" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000699872" "0" "50" "11" "0" "0" "" "0" "00006" "DRD4_000002" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000699888" "0" "50" "11" "0" "0" "" "0" "00006" "DRD4_000002" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000723612" "0" "70" "11" "6637606" "6637606" "subst" "4.06154E-6" "01943" "TPP1_000047" "g.6637606G>A" "" "" "" "TPP1(NM_000391.3):c.1015C>T (p.R339W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723613" "0" "50" "11" "6638382" "6638382" "subst" "0" "01943" "DCHS1_000273" "g.6638382C>T" "" "" "" "TPP1(NM_000391.3):c.511G>A (p.G171R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723614" "0" "90" "11" "6638385" "6638385" "subst" "0.000410279" "02329" "TPP1_000022" "g.6638385C>G" "" "" "" "TPP1(NM_000391.3):c.509-1G>C (p.?), TPP1(NM_000391.4):c.509-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723615" "0" "50" "11" "6644517" "6644517" "subst" "0" "02325" "DCHS1_000274" "g.6644517A>G" "" "" "" "DCHS1(NM_003737.4):c.8390T>C (p.V2797A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723620" "0" "30" "11" "6646039" "6646039" "subst" "0.000410569" "02326" "DCHS1_000139" "g.6646039G>A" "" "" "" "DCHS1(NM_003737.2):c.7207C>T (p.R2403W), DCHS1(NM_003737.4):c.7207C>T (p.R2403W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723623" "0" "30" "11" "6647784" "6647784" "subst" "0.000577062" "01943" "DCHS1_000155" "g.6647784T>C" "" "" "" "DCHS1(NM_003737.2):c.6363A>G (p.T2121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723624" "0" "50" "11" "6648137" "6648137" "subst" "0.000365922" "02325" "DCHS1_000036" "g.6648137G>A" "" "" "" "DCHS1(NM_003737.2):c.6133C>T (p.R2045C), DCHS1(NM_003737.4):c.6133C>T (p.R2045C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723626" "0" "50" "11" "6648352" "6648352" "subst" "2.04063E-5" "01943" "DCHS1_000275" "g.6648352C>T" "" "" "" "DCHS1(NM_003737.2):c.5918G>A (p.G1973D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723627" "0" "50" "11" "6648676" "6648676" "subst" "0" "01943" "DCHS1_000276" "g.6648676G>A" "" "" "" "DCHS1(NM_003737.2):c.5594C>T (p.P1865L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723629" "0" "30" "11" "6650893" "6650893" "dup" "0" "02326" "DCHS1_000168" "g.6650893dup" "" "" "" "DCHS1(NM_003737.4):c.5035+16dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723630" "0" "30" "11" "6650974" "6650974" "subst" "1.6258E-5" "01943" "DCHS1_000277" "g.6650974C>G" "" "" "" "DCHS1(NM_003737.2):c.4964G>C (p.S1655T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723631" "0" "30" "11" "6651294" "6651294" "subst" "4.74136E-6" "01943" "DCHS1_000278" "g.6651294A>G" "" "" "" "DCHS1(NM_003737.2):c.4731T>C (p.A1577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723632" "0" "30" "11" "6651470" "6651470" "subst" "0.00134501" "02326" "DCHS1_000073" "g.6651470G>A" "" "" "" "DCHS1(NM_003737.2):c.4555C>T (p.P1519S, p.(Pro1519Ser)), DCHS1(NM_003737.4):c.4555C>T (p.P1519S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723633" "0" "30" "11" "6651824" "6651824" "subst" "0" "01943" "DCHS1_000279" "g.6651824G>T" "" "" "" "DCHS1(NM_003737.2):c.4201C>A (p.P1401T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723634" "0" "30" "11" "6651933" "6651933" "subst" "7.40763E-6" "01943" "DCHS1_000280" "g.6651933T>C" "" "" "" "DCHS1(NM_003737.2):c.4092A>G (p.A1364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723635" "0" "30" "11" "6652264" "6652264" "subst" "4.3877E-6" "02326" "DCHS1_000281" "g.6652264G>A" "" "" "" "DCHS1(NM_003737.4):c.3930+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723636" "0" "30" "11" "6652627" "6652627" "subst" "0.000154906" "01943" "DCHS1_000282" "g.6652627G>A" "" "" "" "DCHS1(NM_003737.2):c.3687C>T (p.R1229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723637" "0" "50" "11" "6653630" "6653630" "subst" "0" "01943" "DCHS1_000283" "g.6653630G>A" "" "" "" "DCHS1(NM_003737.2):c.3113C>T (p.A1038V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723638" "0" "50" "11" "6653723" "6653723" "subst" "1.413E-5" "01943" "DCHS1_000284" "g.6653723A>C" "" "" "" "DCHS1(NM_003737.2):c.3020T>G (p.V1007G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723639" "0" "30" "11" "6653768" "6653768" "subst" "0.00129901" "02326" "DCHS1_000043" "g.6653768C>T" "" "" "" "DCHS1(NM_003737.2):c.2975G>A (p.G992E, p.(Gly992Glu)), DCHS1(NM_003737.4):c.2975G>A (p.G992E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723640" "0" "30" "11" "6654042" "6654042" "subst" "0" "02326" "DCHS1_000285" "g.6654042C>T" "" "" "" "DCHS1(NM_003737.4):c.2701G>A (p.V901I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723641" "0" "30" "11" "6654195" "6654195" "subst" "0.0010531" "02326" "DCHS1_000193" "g.6654195G>A" "" "" "" "DCHS1(NM_003737.2):c.2548C>T (p.R850C, p.(Arg850Cys)), DCHS1(NM_003737.4):c.2548C>T (p.R850C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723642" "0" "30" "11" "6654882" "6654882" "subst" "0" "01943" "DCHS1_000286" "g.6654882G>A" "" "" "" "DCHS1(NM_003737.2):c.2219-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723643" "0" "30" "11" "6655021" "6655021" "subst" "0" "02326" "DCHS1_000287" "g.6655021T>C" "" "" "" "DCHS1(NM_003737.4):c.2217A>G (p.S739=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723644" "0" "30" "11" "6661352" "6661352" "subst" "0.00124622" "02326" "DCHS1_000206" "g.6661352C>T" "" "" "" "DCHS1(NM_003737.2):c.1493G>A (p.R498Q, p.(Arg498Gln)), DCHS1(NM_003737.4):c.1493G>A (p.R498Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723648" "0" "30" "11" "6662141" "6662141" "subst" "0.000947463" "02325" "DCHS1_000002" "g.6662141C>T" "" "" "" "DCHS1(NM_003737.2):c.704G>A (p.R235Q), DCHS1(NM_003737.4):c.704G>A (p.R235Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723649" "0" "50" "11" "6662144" "6662144" "subst" "8.52937E-5" "01943" "DCHS1_000288" "g.6662144G>T" "" "" "" "DCHS1(NM_003737.2):c.701C>A (p.P234H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805295" "0" "70" "11" "6637605" "6637605" "subst" "4.06118E-6" "02329" "TPP1_000046" "g.6637605C>T" "" "" "" "TPP1(NM_000391.3):c.1016G>A (p.R339Q, p.(Arg339Gln)), TPP1(NM_000391.4):c.1016G>A (p.R339Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000805296" "0" "50" "11" "6637982" "6637982" "subst" "0.000231544" "01943" "DCHS1_000289" "g.6637982G>A" "" "" "" "TPP1(NM_000391.3):c.796C>T (p.R266W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805297" "0" "90" "11" "6638385" "6638385" "subst" "0.000410279" "02326" "TPP1_000022" "g.6638385C>G" "" "" "" "TPP1(NM_000391.3):c.509-1G>C (p.?), TPP1(NM_000391.4):c.509-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805298" "0" "30" "11" "6640135" "6640135" "subst" "0.000370962" "01943" "DCHS1_000290" "g.6640135C>T" "" "" "" "TPP1(NM_000391.3):c.101G>A (p.G34D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805299" "0" "30" "11" "6643664" "6643664" "subst" "0.000273887" "01943" "DCHS1_000007" "g.6643664G>A" "" "" "" "DCHS1(NM_003737.2):c.9246C>T (p.D3082=), DCHS1(NM_003737.4):c.9243C>T (p.C3081=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805300" "0" "50" "11" "6644464" "6644464" "subst" "9.47724E-5" "02325" "DCHS1_000024" "g.6644464C>T" "" "" "" "DCHS1(NM_003737.2):c.8446G>A (p.A2816T), DCHS1(NM_003737.4):c.8443G>A (p.A2815T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805301" "0" "30" "11" "6644585" "6644585" "subst" "0" "01943" "DCHS1_000291" "g.6644585G>A" "" "" "" "DCHS1(NM_003737.2):c.8325C>T (p.Y2775=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805312" "0" "30" "11" "6648065" "6648065" "subst" "2.44668E-5" "01943" "DCHS1_000292" "g.6648065G>T" "" "" "" "DCHS1(NM_003737.2):c.6205C>A (p.P2069T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805313" "0" "30" "11" "6648314" "6648314" "subst" "8.13676E-6" "01943" "DCHS1_000293" "g.6648314G>A" "" "" "" "DCHS1(NM_003737.2):c.5956C>T (p.L1986=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805314" "0" "50" "11" "6648631" "6648631" "subst" "0" "01943" "DCHS1_000294" "g.6648631T>C" "" "" "" "DCHS1(NM_003737.2):c.5639A>G (p.H1880R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805315" "0" "30" "11" "6648739" "6648739" "subst" "2.0632E-5" "01943" "DCHS1_000295" "g.6648739G>A" "" "" "" "DCHS1(NM_003737.2):c.5531C>T (p.T1844I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805317" "0" "30" "11" "6651417" "6651417" "subst" "1.48394E-5" "02326" "DCHS1_000098" "g.6651417G>A" "" "" "" "DCHS1(NM_003737.2):c.4608C>T (p.V1536=), DCHS1(NM_003737.4):c.4608C>T (p.V1536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805318" "0" "30" "11" "6652628" "6652628" "subst" "0.00021605" "01943" "DCHS1_000178" "g.6652628C>T" "" "" "" "DCHS1(NM_003737.2):c.3686G>A (p.R1229H), DCHS1(NM_003737.4):c.3686G>A (p.(Arg1229His), p.R1229H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805319" "0" "50" "11" "6654044" "6654044" "subst" "9.75372E-5" "01943" "DCHS1_000296" "g.6654044G>A" "" "" "" "DCHS1(NM_003737.2):c.2699C>T (p.T900M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805320" "0" "30" "11" "6654118" "6654118" "subst" "2.03077E-5" "01943" "DCHS1_000297" "g.6654118G>A" "" "" "" "DCHS1(NM_003737.2):c.2625C>T (p.F875=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805321" "0" "30" "11" "6655111" "6655111" "subst" "0" "01943" "DCHS1_000243" "g.6655111G>T" "" "" "" "DCHS1(NM_003737.2):c.2127C>A (p.A709=), DCHS1(NM_003737.4):c.2127C>A (p.A709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805322" "0" "30" "11" "6655213" "6655213" "subst" "0" "01943" "DCHS1_000298" "g.6655213C>G" "" "" "" "DCHS1(NM_003737.2):c.2025G>C (p.L675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805323" "0" "50" "11" "6661166" "6661166" "subst" "0.000385765" "01943" "DCHS1_000299" "g.6661166G>A" "" "" "" "DCHS1(NM_003737.2):c.1679C>T (p.S560F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805324" "0" "30" "11" "6661387" "6661387" "subst" "5.30149E-5" "01943" "DCHS1_000300" "g.6661387C>T" "" "" "" "DCHS1(NM_003737.2):c.1458G>A (p.A486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805325" "0" "10" "11" "6661723" "6661723" "subst" "0.00132" "02330" "DCHS1_000060" "g.6661723T>C" "" "" "" "DCHS1(NM_003737.2):c.1122A>G (p.Q374=), DCHS1(NM_003737.4):c.1122A>G (p.Q374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805327" "0" "30" "11" "6662270" "6662270" "subst" "1.62678E-5" "01943" "DCHS1_000301" "g.6662270C>T" "" "" "" "DCHS1(NM_003737.2):c.575G>A (p.R192Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805328" "0" "50" "11" "6662674" "6662674" "subst" "4.73832E-5" "01943" "DCHS1_000302" "g.6662674C>T" "" "" "" "DCHS1(NM_003737.2):c.171G>A (p.A57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000822018" "0" "70" "11" "6654243" "6654243" "subst" "4.0813E-6" "01164" "DCHS1_000303" "g.6654243G>A" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000822019" "0" "50" "11" "6651562" "6651562" "subst" "0" "01164" "DCHS1_000304" "g.6651562A>G" "" "" "" "" "ACMG: PM1, PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000853100" "0" "50" "11" "6637630" "6637630" "subst" "0" "01943" "DCHS1_000305" "g.6637630A>G" "" "" "" "TPP1(NM_000391.3):c.991T>C (p.S331P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853101" "0" "30" "11" "6637682" "6637682" "subst" "0" "01943" "DCHS1_000306" "g.6637682A>G" "" "" "" "TPP1(NM_000391.3):c.939T>C (p.N313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853102" "0" "10" "11" "6637757" "6637759" "del" "0" "02325" "TPP1_000134" "g.6637757_6637759del" "" "" "" "TPP1(NM_000391.3):c.887-8_887-6del (p.(=)), TPP1(NM_000391.4):c.887-8_887-6delAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853103" "0" "10" "11" "6637759" "6637759" "del" "0" "02325" "TPP1_000136" "g.6637759del" "" "" "" "TPP1(NM_000391.3):c.887-6delA, TPP1(NM_000391.3):c.887-6delA (p.(=)), TPP1(NM_000391.4):c.887-6delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853104" "0" "30" "11" "6643349" "6643349" "subst" "2.04003E-5" "01943" "DCHS1_000308" "g.6643349G>C" "" "" "" "DCHS1(NM_003737.2):c.9561C>G (p.N3187K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853106" "0" "50" "11" "6646099" "6646099" "subst" "1.62755E-5" "01943" "DCHS1_000310" "g.6646099C>T" "" "" "" "DCHS1(NM_003737.2):c.7147G>A (p.V2383I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853108" "0" "70" "11" "6646587" "6646587" "subst" "2.4488E-5" "02327" "DCHS1_000082" "g.6646587G>A" "" "" "" "DCHS1(NM_003737.2):c.6988C>T (p.R2330C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000853111" "0" "50" "11" "6648242" "6648242" "subst" "0" "02325" "DCHS1_000314" "g.6648242C>T" "" "" "" "DCHS1(NM_003737.4):c.6028G>A (p.G2010S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853112" "0" "50" "11" "6648839" "6648839" "subst" "1.24328E-5" "01943" "DCHS1_000315" "g.6648839G>A" "" "" "" "DCHS1(NM_003737.2):c.5431C>T (p.R1811W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853113" "0" "50" "11" "6654775" "6654775" "subst" "0" "01943" "DCHS1_000317" "g.6654775G>A" "" "" "" "DCHS1(NM_003737.2):c.2323C>T (p.R775*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853114" "0" "90" "11" "6655083" "6655083" "subst" "0" "02325" "DCHS1_000318" "g.6655083G>A" "" "" "" "DCHS1(NM_003737.4):c.2155C>T (p.R719*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000853117" "0" "50" "11" "6662633" "6662633" "subst" "0" "01943" "DCHS1_000319" "g.6662633C>G" "" "" "" "DCHS1(NM_003737.2):c.212G>C (p.G71A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862645" "0" "50" "11" "6643083" "6643083" "subst" "4.61313E-5" "02325" "DCHS1_000307" "g.6643083T>C" "" "" "" "DCHS1(NM_003737.4):c.9824A>G (p.Q3275R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862646" "0" "30" "11" "6645634" "6645634" "subst" "2.8171E-5" "01943" "DCHS1_000309" "g.6645634C>T" "" "" "" "DCHS1(NM_003737.2):c.7286-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862647" "0" "30" "11" "6646503" "6646503" "subst" "0" "01943" "DCHS1_000311" "g.6646503C>T" "" "" "" "DCHS1(NM_003737.2):c.7072G>A (p.G2358S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862648" "0" "30" "11" "6647285" "6647285" "subst" "1.25167E-5" "01943" "DCHS1_000312" "g.6647285A>G" "" "" "" "DCHS1(NM_003737.2):c.6597T>C (p.D2199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862651" "0" "30" "11" "6647792" "6647792" "subst" "2.03047E-5" "01943" "DCHS1_000313" "g.6647792G>T" "" "" "" "DCHS1(NM_003737.2):c.6355C>A (p.P2119T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862652" "0" "30" "11" "6651549" "6651549" "subst" "0.000133714" "01943" "DCHS1_000316" "g.6651549G>C" "" "" "" "DCHS1(NM_003737.2):c.4476C>G (p.T1492=), DCHS1(NM_003737.4):c.4476C>G (p.T1492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862653" "0" "50" "11" "6654195" "6654195" "subst" "0.0010531" "01943" "DCHS1_000193" "g.6654195G>A" "" "" "" "DCHS1(NM_003737.2):c.2548C>T (p.R850C, p.(Arg850Cys)), DCHS1(NM_003737.4):c.2548C>T (p.R850C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000872366" "3" "50" "11" "6653679" "6653679" "subst" "0" "00006" "DCHS1_000320" "g.6653679C>A" "" "{PMID:Sheffer 2015:25338135}" "" "" "homozygous in unaffected sister" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000890095" "0" "90" "11" "6638271" "6638271" "subst" "0.000235746" "02329" "TPP1_000043" "g.6638271G>A" "" "" "" "TPP1(NM_000391.3):c.622C>T (p.R208*, p.(Arg208Ter)), TPP1(NM_000391.4):c.622C>T (p.R208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890096" "0" "50" "11" "6645264" "6645264" "subst" "0" "02325" "DCHS1_000321" "g.6645264G>A" "" "" "" "DCHS1(NM_003737.4):c.7643C>T (p.P2548L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890103" "0" "10" "11" "6646898" "6646898" "subst" "0.00675225" "02329" "DCHS1_000146" "g.6646898C>T" "" "" "" "DCHS1(NM_003737.2):c.6792G>A (p.T2264=), DCHS1(NM_003737.4):c.6792G>A (p.T2264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890107" "0" "50" "11" "6648071" "6648071" "subst" "2.85397E-5" "02325" "DCHS1_000322" "g.6648071G>A" "" "" "" "DCHS1(NM_003737.4):c.6199C>T (p.R2067C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890110" "0" "30" "11" "6648787" "6648787" "subst" "2.90076E-5" "02325" "DCHS1_000323" "g.6648787C>T" "" "" "" "DCHS1(NM_003737.4):c.5483G>A (p.R1828Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890111" "0" "50" "11" "6653478" "6653478" "subst" "0" "02325" "DCHS1_000324" "g.6653478C>T" "" "" "" "DCHS1(NM_003737.4):c.3265G>A (p.A1089T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890112" "0" "50" "11" "6661273" "6661273" "dup" "0" "02325" "DCHS1_000325" "g.6661273dup" "" "" "" "DCHS1(NM_003737.4):c.1575dupC (p.T526Hfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890114" "0" "50" "11" "6662162" "6662162" "subst" "2.03067E-5" "02325" "DCHS1_000326" "g.6662162T>C" "" "" "" "DCHS1(NM_003737.4):c.683A>G (p.Y228C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913667" "0" "50" "11" "6644425" "6644425" "subst" "0" "02325" "DCHS1_000130" "g.6644425G>A" "" "" "" "DCHS1(NM_003737.4):c.8482C>T (p.R2828C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913671" "0" "50" "11" "6661149" "6661149" "subst" "4.46686E-5" "02325" "DCHS1_000054" "g.6661149C>T" "" "" "" "DCHS1(NM_003737.2):c.1696G>A (p.V566M), DCHS1(NM_003737.4):c.1696G>A (p.V566M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913672" "0" "30" "11" "6661300" "6661300" "subst" "0.00086209" "02329" "DCHS1_000245" "g.6661300G>A" "" "" "" "DCHS1(NM_003737.2):c.1545C>T (p.G515=), DCHS1(NM_003737.4):c.1545C>T (p.G515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913673" "0" "50" "11" "6661462" "6661462" "subst" "2.88341E-5" "02325" "DCHS1_000327" "g.6661462G>T" "" "" "" "DCHS1(NM_003737.4):c.1383C>A (p.H461Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913674" "0" "50" "11" "6662142" "6662142" "subst" "0.000130155" "02325" "DCHS1_000328" "g.6662142G>A" "" "" "" "DCHS1(NM_003737.4):c.703C>T (p.R235W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913675" "0" "30" "11" "6662249" "6662249" "subst" "0.00157395" "02329" "DCHS1_000063" "g.6662249G>C" "" "" "" "DCHS1(NM_003737.2):c.596C>G (p.P199R, p.(Pro199Arg)), DCHS1(NM_003737.4):c.596C>G (p.P199R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000918634" "0" "70" "11" "6643792" "6643792" "subst" "1.55263E-5" "00006" "DCHS1_000329" "g.6643792C>G" "" "{PMID:Neubauer 2021:33895855}" "" "" "" "Germline/De novo (untested)" "" "rs912004965" "0" "" "" "" "" "VUS" "ACMG" "0000925480" "0" "50" "11" "6654716" "6654716" "subst" "0.0011453" "02325" "DCHS1_000046" "g.6654716C>G" "" "" "" "DCHS1(NM_003737.2):c.2382G>C (p.Q794H), DCHS1(NM_003737.4):c.2382G>C (p.(Gln794His), p.Q794H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925481" "0" "50" "11" "6661559" "6661559" "subst" "1.26163E-5" "02329" "DCHS1_000330" "g.6661559C>T" "" "" "" "DCHS1(NM_003737.4):c.1286G>A (p.R429Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925482" "0" "10" "11" "6662466" "6662466" "subst" "0.00626485" "02329" "DCHS1_000219" "g.6662466C>T" "" "" "" "DCHS1(NM_003737.2):c.379G>A (p.V127I), DCHS1(NM_003737.4):c.379G>A (p.V127I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929953" "0" "30" "11" "6644503" "6644503" "subst" "0.00073083" "02329" "DCHS1_000331" "g.6644503G>A" "" "" "" "DCHS1(NM_003737.4):c.8404C>T (p.L2802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929955" "0" "10" "11" "6648388" "6648388" "subst" "0.00463325" "02329" "DCHS1_000157" "g.6648388G>A" "" "" "" "DCHS1(NM_003737.2):c.5882C>T (p.P1961L), DCHS1(NM_003737.4):c.5882C>T (p.P1961L, p.(Pro1961Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929956" "0" "30" "11" "6649853" "6649853" "subst" "9.3417E-5" "02329" "DCHS1_000092" "g.6649853T>C" "" "" "" "DCHS1(NM_003737.2):c.5370A>G (p.L1790=, p.(=)), DCHS1(NM_003737.4):c.5370A>G (p.L1790=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929957" "0" "30" "11" "6654043" "6654043" "subst" "0.00155686" "02329" "DCHS1_000045" "g.6654043C>T" "" "" "" "DCHS1(NM_003737.2):c.2700G>A (p.T900=), DCHS1(NM_003737.4):c.2700G>A (p.T900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929958" "0" "10" "11" "6661600" "6661600" "subst" "0.00585949" "02329" "DCHS1_000059" "g.6661600G>T" "" "" "" "DCHS1(NM_003737.2):c.1245C>A (p.S415R, p.(Ser415Arg)), DCHS1(NM_003737.4):c.1245C>A (p.S415R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929960" "0" "10" "11" "6662769" "6662771" "del" "0" "02329" "DCHS1_000223" "g.6662769_6662771del" "" "" "" "DCHS1(NM_003737.4):c.97_99delCTG (p.L33del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949765" "0" "10" "11" "6647497" "6647497" "subst" "0.00751095" "02329" "DCHS1_000153" "g.6647497G>A" "" "" "" "DCHS1(NM_003737.2):c.6479C>T (p.T2160I, p.(Thr2160Ile)), DCHS1(NM_003737.4):c.6479C>T (p.T2160I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949766" "0" "30" "11" "6651000" "6651000" "subst" "0.00159004" "02329" "DCHS1_000096" "g.6651000C>A" "" "" "" "DCHS1(NM_003737.2):c.4938G>T (p.A1646=), DCHS1(NM_003737.4):c.4938G>T (p.A1646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949767" "0" "30" "11" "6652628" "6652628" "subst" "0.00021605" "02326" "DCHS1_000178" "g.6652628C>T" "" "" "" "DCHS1(NM_003737.2):c.3686G>A (p.R1229H), DCHS1(NM_003737.4):c.3686G>A (p.(Arg1229His), p.R1229H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949768" "0" "50" "11" "6654075" "6654075" "subst" "8.12288E-5" "02325" "DCHS1_000332" "g.6654075T>C" "" "" "" "DCHS1(NM_003737.4):c.2668A>G (p.N890D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949769" "0" "30" "11" "6655111" "6655111" "subst" "0" "02329" "DCHS1_000243" "g.6655111G>T" "" "" "" "DCHS1(NM_003737.2):c.2127C>A (p.A709=), DCHS1(NM_003737.4):c.2127C>A (p.A709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949770" "0" "30" "11" "6661300" "6661300" "subst" "0.00086209" "02326" "DCHS1_000245" "g.6661300G>A" "" "" "" "DCHS1(NM_003737.2):c.1545C>T (p.G515=), DCHS1(NM_003737.4):c.1545C>T (p.G515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966512" "0" "30" "11" "6645895" "6645895" "subst" "0" "02329" "DCHS1_000333" "g.6645895A>G" "" "" "" "DCHS1(NM_003737.4):c.7285+66T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966518" "0" "50" "11" "6648772" "6648772" "subst" "4.128E-6" "02325" "DCHS1_000334" "g.6648772G>A" "" "" "" "DCHS1(NM_003737.4):c.5498C>T (p.P1833L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966523" "0" "30" "11" "6653768" "6653768" "subst" "0.00129901" "02329" "DCHS1_000043" "g.6653768C>T" "" "" "" "DCHS1(NM_003737.2):c.2975G>A (p.G992E, p.(Gly992Glu)), DCHS1(NM_003737.4):c.2975G>A (p.G992E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966524" "0" "30" "11" "6655201" "6655201" "subst" "5.68528E-5" "02329" "DCHS1_000335" "g.6655201A>G" "" "" "" "DCHS1(NM_003737.4):c.2037T>C (p.N679=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979770" "0" "50" "11" "6644086" "6644086" "subst" "0" "01804" "DCHS1_000336" "g.6644086C>T" "" "" "" "DCHS1(NM_003737.4):c.8821G>A (p.(Val2941Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979771" "0" "30" "11" "6644270" "6644270" "subst" "0" "01804" "DCHS1_000019" "g.6644270G>A" "" "" "" "DCHS1(NM_003737.2):c.8640C>T (p.G2880=), DCHS1(NM_003737.4):c.8637C>T (p.S2879=, p.(Ser2879=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979776" "0" "30" "11" "6646966" "6646966" "subst" "0" "01804" "DCHS1_000337" "g.6646966C>T" "" "" "" "DCHS1(NM_003737.4):c.6732-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979780" "0" "50" "11" "6650907" "6650907" "subst" "0" "01804" "DCHS1_000338" "g.6650907G>T" "" "" "" "DCHS1(NM_003737.4):c.5031C>A (p.(Asp1677Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979781" "0" "30" "11" "6652628" "6652628" "subst" "0.00021605" "01804" "DCHS1_000178" "g.6652628C>T" "" "" "" "DCHS1(NM_003737.2):c.3686G>A (p.R1229H), DCHS1(NM_003737.4):c.3686G>A (p.(Arg1229His), p.R1229H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979782" "0" "50" "11" "6653786" "6653788" "dup" "0" "01804" "DCHS1_000339" "g.6653786_6653788dup" "" "" "" "DCHS1(NM_003737.4):c.2961_2963dup (p.(Val988dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999333" "0" "30" "11" "6638938" "6638938" "subst" "0.00226616" "01804" "TPP1_000058" "g.6638938T>C" "" "" "" "TPP1(NM_000391.3):c.299A>G (p.Q100R, p.(Gln100Arg)), TPP1(NM_000391.4):c.299A>G (p.Q100R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999334" "0" "50" "11" "6643539" "6643539" "subst" "0" "01804" "DCHS1_000340" "g.6643539C>T" "" "" "" "DCHS1(NM_003737.2):c.9365G>A (p.(Gly3122Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999335" "0" "50" "11" "6643573" "6643573" "subst" "0" "01804" "DCHS1_000341" "g.6643573G>T" "" "" "" "DCHS1(NM_003737.2):c.9331G>A (p.(Gly3111Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999336" "0" "30" "11" "6643749" "6643749" "subst" "0" "01804" "DCHS1_000342" "g.6643749A>T" "" "" "" "DCHS1(NM_003737.2):c.9155G>A (p.(Arg3052His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999337" "0" "30" "11" "6644280" "6644280" "subst" "0" "01804" "DCHS1_000343" "g.6644280G>T" "" "" "" "DCHS1(NM_003737.2):c.8624G>A (p.(Arg2875Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999338" "0" "30" "11" "6644305" "6644305" "subst" "0" "01804" "DCHS1_000344" "g.6644305G>T" "" "" "" "DCHS1(NM_003737.2):c.8599G>A (p.(Ala2867Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999339" "0" "30" "11" "6644461" "6644461" "subst" "0" "01804" "DCHS1_000345" "g.6644461G>T" "" "" "" "DCHS1(NM_003737.2):c.8443G>A (p.(Ala2815Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999343" "0" "30" "11" "6645516" "6645516" "subst" "0" "01804" "DCHS1_000346" "g.6645516G>A" "" "" "" "DCHS1(NM_003737.2):c.7388C>T (p.(Ala2463Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999351" "0" "30" "11" "6646036" "6646036" "subst" "0" "01804" "DCHS1_000347" "g.6646036C>A" "" "" "" "DCHS1(NM_003737.2):c.7207C>T (p.(Arg2403Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999365" "0" "30" "11" "6651236" "6651236" "subst" "0" "01804" "DCHS1_000348" "g.6651236T>G" "" "" "" "DCHS1(NM_003737.2):c.4786T>C (p.(Ser1596Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999366" "0" "30" "11" "6651467" "6651467" "subst" "0" "01804" "DCHS1_000349" "g.6651467C>A" "" "" "" "DCHS1(NM_003737.2):c.4555C>T (p.(Pro1519Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999367" "0" "30" "11" "6651469" "6651469" "subst" "0" "01804" "DCHS1_000350" "g.6651469G>T" "" "" "" "DCHS1(NM_003737.2):c.4553G>A (p.(Arg1518Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999368" "0" "50" "11" "6651880" "6651880" "subst" "0" "01804" "DCHS1_000351" "g.6651880T>C" "" "" "" "DCHS1(NM_003737.2):c.4142T>G (p.(Leu1381Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999369" "0" "30" "11" "6652358" "6652358" "subst" "0" "01804" "DCHS1_000352" "g.6652358G>A" "" "" "" "DCHS1(NM_003737.2):c.3853C>T (p.(Pro1285Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999370" "0" "30" "11" "6652401" "6652401" "subst" "0" "02329" "DCHS1_000353" "g.6652401C>T" "" "" "" "DCHS1(NM_003737.4):c.3813G>A (p.G1271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999371" "0" "30" "11" "6652623" "6652623" "subst" "0" "01804" "DCHS1_000354" "g.6652623G>T" "" "" "" "DCHS1(NM_003737.2):c.3688G>A (p.(Val1230Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999372" "0" "30" "11" "6652849" "6652849" "subst" "0" "01804" "DCHS1_000355" "g.6652849G>C" "" "" "" "DCHS1(NM_003737.2):c.3670A>G (p.(Ile1224Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999373" "0" "30" "11" "6653582" "6653582" "subst" "0" "01804" "DCHS1_000356" "g.6653582A>G" "" "" "" "DCHS1(NM_003737.2):c.3158G>C (p.(Trp1053Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999374" "0" "30" "11" "6653765" "6653765" "subst" "6.13219E-6" "01804" "DCHS1_000357" "g.6653765G>T" "" "" "" "DCHS1(NM_003737.2):c.2975G>A (p.(Gly992Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999375" "0" "50" "11" "6653807" "6653807" "subst" "0" "01804" "DCHS1_000358" "g.6653807G>T" "" "" "" "DCHS1(NM_003737.2):c.2933G>A (p.(Arg978His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999376" "0" "50" "11" "6653888" "6653888" "subst" "0" "01804" "DCHS1_000359" "g.6653888A>T" "" "" "" "DCHS1(NM_003737.2):c.2852G>A (p.(Arg951Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999377" "0" "50" "11" "6653889" "6653889" "subst" "0" "01804" "DCHS1_000360" "g.6653889G>A" "" "" "" "DCHS1(NM_003737.2):c.2851C>T (p.(Arg951Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999378" "0" "50" "11" "6654670" "6654670" "subst" "0" "01804" "DCHS1_000361" "g.6654670C>T" "" "" "" "DCHS1(NM_003737.2):c.2425G>A (p.(Val809Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999379" "0" "30" "11" "6655112" "6655112" "subst" "0" "01804" "DCHS1_000362" "g.6655112G>T" "" "" "" "DCHS1(NM_003737.2):c.2123G>A (p.(Arg708His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999380" "0" "50" "11" "6655359" "6655359" "subst" "0" "01804" "DCHS1_000363" "g.6655359G>C" "" "" "" "DCHS1(NM_003737.2):c.1973C>G (p.(Thr658Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999381" "0" "50" "11" "6655500" "6655500" "subst" "0" "01804" "DCHS1_000364" "g.6655500A>T" "" "" "" "DCHS1(NM_003737.2):c.1832G>A (p.(Gly611Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999382" "0" "30" "11" "6661184" "6661184" "subst" "0" "01804" "DCHS1_000365" "g.6661184C>T" "" "" "" "DCHS1(NM_003737.2):c.1658G>A (p.(Gly553Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999383" "0" "50" "11" "6661637" "6661637" "subst" "0" "01804" "DCHS1_000366" "g.6661637A>C" "" "" "" "DCHS1(NM_003737.2):c.1205A>G (p.(Asn402Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999384" "0" "30" "11" "6661890" "6661890" "subst" "0" "01804" "DCHS1_000367" "g.6661890G>A" "" "" "" "DCHS1(NM_003737.2):c.952C>T (p.(Arg318Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999385" "0" "50" "11" "6662138" "6662138" "subst" "0" "01804" "DCHS1_000368" "g.6662138C>T" "" "" "" "DCHS1(NM_003737.2):c.704G>A (p.(Arg235Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999386" "0" "50" "11" "6662255" "6662255" "subst" "0.000536843" "02325" "DCHS1_000064" "g.6662255G>A" "" "" "" "DCHS1(NM_003737.2):c.590C>T (p.P197L, p.(Pro197Leu)), DCHS1(NM_003737.4):c.590C>T (p.P197L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999387" "0" "50" "11" "6662325" "6662325" "subst" "8.12869E-6" "01804" "DCHS1_000369" "g.6662325G>A" "" "" "" "DCHS1(NM_003737.2):c.517G>T (p.(Gly173Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999388" "0" "30" "11" "6662463" "6662463" "subst" "0" "01804" "DCHS1_000370" "g.6662463C>T" "" "" "" "DCHS1(NM_003737.2):c.379G>A (p.(Val127Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999389" "0" "30" "11" "6662556" "6662556" "subst" "0" "01804" "DCHS1_000371" "g.6662556G>T" "" "" "" "DCHS1(NM_003737.2):c.286G>A (p.(Glu96Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999391" "0" "50" "11" "6662744" "6662746" "del" "0" "01804" "DCHS1_000372" "g.6662744_6662746del" "" "" "" "DCHS1(NM_003737.2):c.97_99delCTG (p.(Leu33del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999392" "0" "30" "11" "6662744" "6662746" "dup" "0" "01804" "DCHS1_000373" "g.6662744_6662746dup" "" "" "" "DCHS1(NM_003737.2):c.94_96dupCTG (p.(Leu32dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014862" "0" "50" "11" "6640098" "6640098" "subst" "1.62563E-5" "01804" "DCHS1_000374" "g.6640098C>A" "" "" "" "TPP1(NM_000391.3):c.138G>T (p.(Glu46Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014863" "0" "50" "11" "6644059" "6644059" "subst" "0" "02325" "DCHS1_000071" "g.6644059C>G" "" "" "" "DCHS1(NM_003737.4):c.8848G>C (p.V2950L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014864" "0" "50" "11" "6648586" "6648586" "subst" "2.14865E-5" "02325" "DCHS1_000375" "g.6648586C>G" "" "" "" "DCHS1(NM_003737.4):c.5684G>C (p.G1895A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014865" "0" "10" "11" "6650684" "6650684" "subst" "0.00986241" "02329" "DCHS1_000165" "g.6650684T>A" "" "" "" "DCHS1(NM_003737.2):c.5160A>T (p.T1720=, p.(=)), DCHS1(NM_003737.4):c.5160A>T (p.T1720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014866" "0" "90" "11" "6653937" "6653937" "del" "0" "02325" "DCHS1_000376" "g.6653937del" "" "" "" "DCHS1(NM_003737.4):c.2810delG (p.G937Vfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014867" "0" "70" "11" "6662564" "6662564" "subst" "0" "02325" "DCHS1_000377" "g.6662564A>G" "" "" "" "DCHS1(NM_003737.4):c.281T>C (p.I94T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001026055" "0" "50" "11" "6653558" "6653558" "subst" "4.87397E-5" "02325" "DCHS1_000378" "g.6653558C>T" "" "" "" "DCHS1(NM_003737.4):c.3185G>A (p.R1062H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026056" "0" "50" "11" "6653727" "6653727" "subst" "7.78543E-5" "02325" "DCHS1_000379" "g.6653727G>A" "" "" "" "DCHS1(NM_003737.4):c.3016C>T (p.R1006C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026057" "0" "50" "11" "6661532" "6661532" "subst" "0" "02327" "DCHS1_000380" "g.6661532T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026058" "0" "30" "11" "6661813" "6661813" "subst" "7.45657E-5" "02329" "DCHS1_000246" "g.6661813G>A" "" "" "" "DCHS1(NM_003737.2):c.1032C>T (p.G344=), DCHS1(NM_003737.4):c.1032C>T (p.G344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026059" "0" "50" "11" "6661835" "6661835" "subst" "4.13781E-6" "02326" "DCHS1_000381" "g.6661835C>T" "" "" "" "DCHS1(NM_003737.4):c.1010G>A (p.G337D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027875" "0" "30" "11" "6643550" "6643550" "subst" "0" "03779" "DCHS1_000382" "g.6643550G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1301091138" "0" "" "" "" "" "likely benign" "" "0001038627" "0" "50" "11" "6644605" "6644605" "subst" "0.000223198" "01804" "DCHS1_000383" "g.6644605G>A" "" "" "" "DCHS1(NM_003737.4):c.8302C>T (p.(Arg2768Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038638" "0" "50" "11" "6648298" "6648298" "subst" "0.000406507" "01804" "DCHS1_000039" "g.6648298C>T" "" "" "" "DCHS1(NM_003737.2):c.5972G>A (p.R1991H), DCHS1(NM_003737.4):c.5972G>A (p.(Arg1991His), p.R1991H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038639" "0" "30" "11" "6648388" "6648388" "subst" "0.00463325" "01804" "DCHS1_000157" "g.6648388G>A" "" "" "" "DCHS1(NM_003737.2):c.5882C>T (p.P1961L), DCHS1(NM_003737.4):c.5882C>T (p.P1961L, p.(Pro1961Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038640" "0" "30" "11" "6648573" "6648573" "subst" "0.022069" "01804" "DCHS1_000041" "g.6648573T>C" "" "" "" "DCHS1(NM_003737.2):c.5697A>G (p.A1899=), DCHS1(NM_003737.4):c.5697A>G (p.A1899=, p.(Ala1899=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038644" "0" "30" "11" "6651549" "6651549" "subst" "0.000133714" "02326" "DCHS1_000316" "g.6651549G>C" "" "" "" "DCHS1(NM_003737.2):c.4476C>G (p.T1492=), DCHS1(NM_003737.4):c.4476C>G (p.T1492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038645" "0" "30" "11" "6651945" "6651945" "subst" "0.00102326" "01804" "DCHS1_000104" "g.6651945C>T" "" "" "" "DCHS1(NM_003737.2):c.4080G>A (p.A1360=), DCHS1(NM_003737.4):c.4080G>A (p.(Ala1360=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038646" "0" "30" "11" "6651975" "6651975" "subst" "0.0130531" "01804" "DCHS1_000107" "g.6651975C>G" "" "" "" "DCHS1(NM_003737.2):c.4050G>C (p.L1350=), DCHS1(NM_003737.4):c.4050G>C (p.L1350=, p.(Leu1350=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038647" "0" "30" "11" "6652416" "6652416" "subst" "0.0184746" "01804" "DCHS1_000108" "g.6652416C>T" "" "" "" "DCHS1(NM_003737.2):c.3798G>A (p.L1266=), DCHS1(NM_003737.4):c.3798G>A (p.L1266=, p.(Leu1266=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038648" "0" "10" "11" "6652976" "6652976" "subst" "0.0131719" "01804" "DCHS1_000112" "g.6652976C>T" "" "" "" "DCHS1(NM_003737.2):c.3546G>A (p.Q1182=), DCHS1(NM_003737.4):c.3546G>A (p.Q1182=, p.(Gln1182=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001038649" "0" "50" "11" "6653909" "6653909" "subst" "5.30712E-6" "01804" "DCHS1_000384" "g.6653909G>A" "" "" "" "DCHS1(NM_003737.4):c.2834C>T (p.(Pro945Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038650" "0" "50" "11" "6654102" "6654102" "subst" "8.12328E-6" "01804" "DCHS1_000385" "g.6654102G>A" "" "" "" "DCHS1(NM_003737.4):c.2641C>T (p.(Arg881Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038651" "0" "30" "11" "6654716" "6654716" "subst" "0.0011453" "01804" "DCHS1_000046" "g.6654716C>G" "" "" "" "DCHS1(NM_003737.2):c.2382G>C (p.Q794H), DCHS1(NM_003737.4):c.2382G>C (p.(Gln794His), p.Q794H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038652" "0" "10" "11" "6661170" "6661170" "subst" "0.00125078" "01804" "DCHS1_000055" "g.6661170C>A" "" "" "" "DCHS1(NM_003737.2):c.1675G>T (p.A559S), DCHS1(NM_003737.4):c.1675G>T (p.(Ala559Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001038653" "0" "30" "11" "6661447" "6661447" "subst" "0.0218206" "01804" "DCHS1_000058" "g.6661447G>A" "" "" "" "DCHS1(NM_003737.2):c.1398C>T (p.N466=), DCHS1(NM_003737.4):c.1398C>T (p.N466=, p.(Asn466=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038656" "0" "50" "11" "6661913" "6661913" "subst" "2.03714E-5" "01804" "DCHS1_000386" "g.6661913G>A" "" "" "" "DCHS1(NM_003737.4):c.932C>T (p.(Thr311Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038658" "0" "30" "11" "6662787" "6662787" "subst" "0.000302062" "01804" "DCHS1_000387" "g.6662787G>A" "" "" "" "DCHS1(NM_003737.4):c.58C>T (p.(His20Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046326" "0" "30" "11" "6648299" "6648299" "subst" "0.000292673" "02326" "DCHS1_000236" "g.6648299G>T" "" "" "" "DCHS1(NM_003737.2):c.5971C>A (p.R1991S), DCHS1(NM_003737.4):c.5971C>A (p.R1991S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046327" "0" "30" "11" "6648767" "6648767" "subst" "0.00077996" "02326" "DCHS1_000163" "g.6648767G>A" "" "" "" "DCHS1(NM_003737.2):c.5503C>T (p.L1835F), DCHS1(NM_003737.4):c.5503C>T (p.L1835F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DCHS1 ## Count = 534 "{{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}}" "0000096955" "00006156" "50" "704" "0" "704" "0" "c.704G>A" "r.(?)" "p.(Arg235Gln)" "" "0000096983" "00006156" "50" "6467" "0" "6467" "0" "c.6467T>A" "r.(?)" "p.(Val2156Glu)" "" "0000246979" "00006156" "10" "4215" "0" "4215" "0" "c.4215T>C" "r.(?)" "p.(=)" "" "0000247007" "00006156" "10" "7614" "0" "7614" "0" "c.7614T>G" "r.(?)" "p.(=)" "" "0000247040" "00006156" "30" "5667" "0" "5667" "0" "c.5667T>C" "r.(?)" "p.(=)" "" "0000253359" "00006156" "10" "4215" "0" "4215" "0" "c.4215T>C" "r.(?)" "p.(=)" "" "0000253609" "00006156" "10" "6515" "0" "6515" "0" "c.6515T>A" "r.(?)" "p.(Leu2172Gln)" "" "0000254557" "00006156" "30" "1640" "0" "1640" "0" "c.1640T>C" "r.(?)" "p.(Ile547Thr)" "" "0000265217" "00006156" "10" "1398" "0" "1398" "0" "c.1398C>T" "r.(?)" "p.(=)" "" "0000265218" "00006156" "10" "1902" "0" "1902" "0" "c.1902C>T" "r.(?)" "p.(=)" "" "0000265219" "00006156" "10" "1986" "17" "1986" "17" "c.1986+17A>T" "r.(=)" "p.(=)" "" "0000265220" "00006156" "10" "1987" "-13" "1987" "-13" "c.1987-13C>T" "r.(=)" "p.(=)" "" "0000265221" "00006156" "10" "3546" "0" "3546" "0" "c.3546G>A" "r.(?)" "p.(=)" "" "0000265222" "00006156" "10" "3696" "0" "3696" "0" "c.3696G>A" "r.(?)" "p.(=)" "" "0000265223" "00006156" "10" "3711" "0" "3711" "0" "c.3711G>A" "r.(?)" "p.(=)" "" "0000265224" "00006156" "50" "4072" "0" "4072" "0" "c.4072G>A" "r.(?)" "p.(Glu1358Lys)" "" "0000265225" "00006156" "10" "4608" "0" "4608" "0" "c.4608C>T" "r.(?)" "p.(=)" "" "0000265226" "00006156" "30" "4938" "0" "4938" "0" "c.4938G>T" "r.(?)" "p.(=)" "" "0000265228" "00006156" "10" "543" "0" "543" "0" "c.543G>A" "r.(?)" "p.(=)" "" "0000265229" "00006156" "30" "5604" "0" "5604" "0" "c.5604G>A" "r.(?)" "p.(=)" "" "0000265230" "00006156" "10" "5697" "0" "5697" "0" "c.5697A>G" "r.(?)" "p.(=)" "" "0000265231" "00006156" "10" "5846" "0" "5846" "0" "c.5846C>T" "r.(?)" "p.(Thr1949Met)" "" "0000265232" "00006156" "10" "6272" "0" "6272" "0" "c.6272G>C" "r.(?)" "p.(Arg2091Thr)" "" "0000265233" "00006156" "10" "6365" "-11" "6365" "-11" "c.6365-11A>G" "r.(=)" "p.(=)" "" "0000265234" "00006156" "50" "6976" "0" "6976" "0" "c.6976C>T" "r.(?)" "p.(Arg2326Cys)" "" "0000265235" "00006156" "10" "6991" "0" "6991" "0" "c.6991G>A" "r.(?)" "p.(Val2331Ile)" "" "0000265236" "00006156" "10" "7075" "0" "7075" "0" "c.7075C>T" "r.(?)" "p.(Arg2359Cys)" "" "0000265237" "00006156" "10" "7147" "-9" "7147" "-9" "c.7147-9A>G" "r.(=)" "p.(=)" "" "0000265238" "00006156" "10" "7698" "0" "7698" "0" "c.7698A>G" "r.(?)" "p.(=)" "" "0000265239" "00006156" "10" "7839" "0" "7839" "0" "c.7839G>A" "r.(?)" "p.(=)" "" "0000265240" "00006156" "10" "8307" "0" "8307" "0" "c.8307G>A" "r.(?)" "p.(=)" "" "0000265241" "00006156" "10" "8480" "0" "8480" "0" "c.8480G>C" "r.(?)" "p.(Arg2827Pro)" "" "0000265242" "00006156" "10" "8599" "0" "8599" "0" "c.8599G>A" "r.(?)" "p.(Ala2867Thr)" "" "0000265243" "00006156" "10" "8637" "0" "8637" "0" "c.8637C>T" "r.(?)" "p.(=)" "" "0000265244" "00006156" "10" "8931" "0" "8931" "0" "c.8931G>A" "r.(?)" "p.(=)" "" "0000265245" "00006156" "10" "9243" "0" "9243" "0" "c.9243C>T" "r.(?)" "p.(=)" "" "0000267284" "00006156" "50" "2000" "0" "2000" "0" "c.2000C>G" "r.(?)" "p.(Ser667Cys)" "" "0000267285" "00006156" "30" "8758" "0" "8758" "0" "c.8758G>A" "r.(?)" "p.(Val2920Met)" "" "0000268653" "00006156" "50" "704" "0" "704" "0" "c.704G>A" "r.(?)" "p.(Arg235Gln)" "" "0000268654" "00006156" "50" "8443" "0" "8443" "0" "c.8443G>A" "r.(?)" "p.(Ala2815Thr)" "" "0000274774" "00006156" "50" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Arg353Gln)" "" "0000274775" "00006156" "10" "1122" "0" "1122" "0" "c.1122A>G" "r.(?)" "p.(=)" "" "0000274776" "00006156" "50" "1245" "0" "1245" "0" "c.1245C>A" "r.(?)" "p.(Ser415Arg)" "" "0000274777" "00006156" "30" "1398" "0" "1398" "0" "c.1398C>T" "r.(?)" "p.(=)" "" "0000274778" "00006156" "10" "1675" "0" "1675" "0" "c.1675G>T" "r.(?)" "p.(Ala559Ser)" "" "0000274779" "00006156" "50" "1696" "0" "1696" "0" "c.1696G>A" "r.(?)" "p.(Val566Met)" "" "0000274780" "00006156" "30" "1770" "0" "1770" "0" "c.1770C>T" "r.(?)" "p.(=)" "" "0000274781" "00006156" "30" "1798" "-10" "1798" "-10" "c.1798-10C>T" "r.(=)" "p.(=)" "" "0000274782" "00006156" "10" "1902" "0" "1902" "0" "c.1902C>T" "r.(?)" "p.(=)" "" "0000274783" "00006156" "10" "1986" "17" "1986" "17" "c.1986+17A>T" "r.(=)" "p.(=)" "" "0000274784" "00006156" "50" "2063" "0" "2063" "0" "c.2063G>C" "r.(?)" "p.(Arg688Pro)" "" "0000274785" "00006156" "50" "2382" "0" "2382" "0" "c.2382G>C" "r.(?)" "p.(Gln794His)" "" "0000274786" "00006156" "30" "2700" "0" "2700" "0" "c.2700G>A" "r.(?)" "p.(=)" "" "0000274787" "00006156" "30" "2975" "0" "2975" "0" "c.2975G>A" "r.(?)" "p.(Gly992Glu)" "" "0000274788" "00006156" "30" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Arg999Gln)" "" "0000274789" "00006156" "50" "301" "0" "301" "0" "c.301G>A" "r.(?)" "p.(Val101Ile)" "" "0000274790" "00006156" "50" "3158" "0" "3158" "0" "c.3158G>C" "r.(?)" "p.(Trp1053Ser)" "" "0000274791" "00006156" "50" "3176" "0" "3176" "0" "c.3176C>A" "r.(?)" "p.(Ala1059Glu)" "" "0000274792" "00006156" "50" "3263" "0" "3263" "0" "c.3263C>T" "r.(?)" "p.(Thr1088Ile)" "" "0000274793" "00006156" "30" "3414" "0" "3414" "0" "c.3414A>G" "r.(?)" "p.(=)" "" "0000274794" "00006156" "30" "3481" "9" "3481" "9" "c.3481+9A>T" "r.(=)" "p.(=)" "" "0000274795" "00006156" "30" "3546" "0" "3546" "0" "c.3546G>A" "r.(?)" "p.(=)" "" "0000274796" "00006156" "10" "3696" "0" "3696" "0" "c.3696G>A" "r.(?)" "p.(=)" "" "0000274797" "00006156" "50" "3708" "0" "3708" "0" "c.3708G>A" "r.(?)" "p.(=)" "" "0000274798" "00006156" "10" "3798" "0" "3798" "0" "c.3798G>A" "r.(?)" "p.(=)" "" "0000274799" "00006156" "30" "4050" "0" "4050" "0" "c.4050G>C" "r.(?)" "p.(=)" "" "0000274800" "00006156" "30" "4069" "0" "4069" "0" "c.4069C>G" "r.(?)" "p.(Pro1357Ala)" "" "0000274801" "00006156" "30" "4080" "0" "4080" "0" "c.4080G>A" "r.(?)" "p.(=)" "" "0000274802" "00006156" "30" "4398" "0" "4398" "0" "c.4398C>T" "r.(?)" "p.(=)" "" "0000274803" "00006156" "30" "4470" "0" "4470" "0" "c.4470G>C" "r.(?)" "p.(=)" "" "0000274804" "00006156" "50" "4514" "0" "4514" "0" "c.4514C>T" "r.(?)" "p.(Thr1505Ile)" "" "0000274805" "00006156" "50" "4552" "0" "4552" "0" "c.4552C>G" "r.(?)" "p.(Arg1518Gly)" "" "0000274806" "00006156" "50" "4555" "0" "4555" "0" "c.4555C>T" "r.(?)" "p.(Pro1519Ser)" "" "0000274807" "00006156" "10" "4685" "0" "4685" "0" "c.4685C>T" "r.(?)" "p.(Pro1562Leu)" "" "0000274808" "00006156" "30" "5036" "-5" "5036" "-5" "c.5036-5C>G" "r.spl?" "p.?" "" "0000274809" "00006156" "50" "5198" "0" "5198" "0" "c.5198C>T" "r.(?)" "p.(Thr1733Met)" "" "0000274810" "00006156" "30" "5370" "0" "5370" "0" "c.5370A>G" "r.(?)" "p.(=)" "" "0000274811" "00006156" "30" "543" "0" "543" "0" "c.543G>A" "r.(?)" "p.(=)" "" "0000274812" "00006156" "30" "5697" "0" "5697" "0" "c.5697A>G" "r.(?)" "p.(=)" "" "0000274813" "00006156" "10" "5846" "0" "5846" "0" "c.5846C>T" "r.(?)" "p.(Thr1949Met)" "" "0000274814" "00006156" "50" "590" "0" "590" "0" "c.590C>T" "r.(?)" "p.(Pro197Leu)" "" "0000274815" "00006156" "10" "596" "0" "596" "0" "c.596C>G" "r.(?)" "p.(Pro199Arg)" "" "0000274816" "00006156" "50" "5972" "0" "5972" "0" "c.5972G>A" "r.(?)" "p.(Arg1991His)" "" "0000274817" "00006156" "50" "6133" "0" "6133" "0" "c.6133C>T" "r.(?)" "p.(Arg2045Cys)" "" "0000274818" "00006156" "30" "6277" "0" "6277" "0" "c.6277G>A" "r.(?)" "p.(Val2093Ile)" "" "0000274819" "00006156" "10" "6365" "-11" "6365" "-11" "c.6365-11A>G" "r.(=)" "p.(=)" "" "0000274820" "00006156" "30" "6380" "0" "6380" "0" "c.6380G>A" "r.(?)" "p.(Arg2127His)" "" "0000274821" "00006156" "30" "6416" "0" "6416" "0" "c.6416G>A" "r.(?)" "p.(Arg2139Gln)" "" "0000274822" "00006156" "30" "6663" "0" "6663" "0" "c.6663C>T" "r.(?)" "p.(=)" "" "0000274823" "00006156" "70" "6988" "0" "6988" "0" "c.6988C>T" "r.(?)" "p.(Arg2330Cys)" "" "0000274824" "00006156" "10" "6991" "0" "6991" "0" "c.6991G>A" "r.(?)" "p.(Val2331Ile)" "" "0000274825" "00006156" "50" "704" "0" "704" "0" "c.704G>A" "r.(?)" "p.(Arg235Gln)" "" "0000274826" "00006156" "10" "7147" "-9" "7147" "-9" "c.7147-9A>G" "r.(=)" "p.(=)" "" "0000274827" "00006156" "50" "7225" "0" "7225" "0" "c.7225G>A" "r.(?)" "p.(Gly2409Ser)" "" "0000274828" "00006156" "50" "7382" "0" "7382" "0" "c.7382G>A" "r.(?)" "p.(Gly2461Asp)" "" "0000274829" "00006156" "30" "7538" "0" "7538" "0" "c.7538G>A" "r.(?)" "p.(Arg2513His)" "" "0000274830" "00006156" "50" "8186" "0" "8186" "0" "c.8186A>T" "r.(?)" "p.(His2729Leu)" "" "0000274831" "00006156" "30" "8193" "0" "8193" "0" "c.8193C>T" "r.(?)" "p.(=)" "" "0000274832" "00006156" "30" "8221" "0" "8221" "0" "c.8221C>G" "r.(?)" "p.(Leu2741Val)" "" "0000274833" "00006156" "30" "822" "0" "822" "0" "c.822C>T" "r.(?)" "p.(=)" "" "0000274834" "00006156" "50" "8266" "0" "8266" "0" "c.8266G>A" "r.(?)" "p.(Glu2756Lys)" "" "0000274838" "00006156" "30" "8596" "0" "8596" "0" "c.8596G>A" "r.(?)" "p.(Gly2866Arg)" "" "0000274841" "00006156" "30" "8972" "0" "8972" "0" "c.8972G>A" "r.(?)" "p.(Arg2991Gln)" "" "0000274845" "00006156" "50" "9405" "0" "9405" "0" "c.9405C>T" "r.(?)" "p.(=)" "" "0000312018" "00006156" "90" "14522" "0" "14522" "0" "c.*4625G>C" "r.(=)" "p.(=)" "" "0000312019" "00006156" "90" "14636" "0" "14636" "0" "c.*4739C>T" "r.(=)" "p.(=)" "" "0000312020" "00006156" "30" "14969" "0" "14969" "0" "c.*5072G>C" "r.(=)" "p.(=)" "" "0000312021" "00006156" "90" "14980" "0" "14980" "0" "c.*5083G>T" "r.(=)" "p.(=)" "" "0000312022" "00006156" "10" "15166" "0" "15167" "0" "c.*5269_*5270del" "r.(=)" "p.(=)" "" "0000314803" "00006156" "70" "15302" "0" "15302" "0" "c.*5405G>A" "r.(=)" "p.(=)" "" "0000314804" "00006156" "90" "15334" "0" "15334" "0" "c.*5437C>T" "r.(=)" "p.(=)" "" "0000314809" "00006156" "10" "15165" "0" "15167" "0" "c.*5268_*5270del" "r.(=)" "p.(=)" "" "0000314810" "00006156" "10" "15166" "0" "15167" "0" "c.*5269_*5270del" "r.(=)" "p.(=)" "" "0000314811" "00006156" "10" "15167" "0" "15167" "0" "c.*5270del" "r.(?)" "p.(=)" "" "0000316971" "00006156" "70" "15302" "0" "15302" "0" "c.*5405G>A" "r.(=)" "p.(=)" "" "0000316973" "00006156" "30" "12793" "0" "12793" "0" "c.*2896C>T" "r.(=)" "p.(=)" "" "0000316976" "00006156" "50" "12848" "0" "12862" "0" "c.*2951_*2965del" "r.(=)" "p.(=)" "" "0000316977" "00006156" "50" "12865" "0" "12867" "0" "c.*2968_*2970del" "r.(=)" "p.(=)" "" "0000316978" "00006156" "30" "13969" "0" "13969" "0" "c.*4072A>G" "r.(=)" "p.(=)" "" "0000316979" "00006156" "90" "14522" "0" "14522" "0" "c.*4625G>C" "r.(=)" "p.(=)" "" "0000316980" "00006156" "10" "14567" "0" "14567" "0" "c.*4670C>T" "r.(=)" "p.(=)" "" "0000316981" "00006156" "90" "14636" "0" "14636" "0" "c.*4739C>T" "r.(=)" "p.(=)" "" "0000316982" "00006156" "30" "14988" "0" "14988" "0" "c.*5091A>G" "r.(=)" "p.(=)" "" "0000316983" "00006156" "10" "15167" "0" "15167" "0" "c.*5270del" "r.(?)" "p.(=)" "" "0000316984" "00006156" "10" "15166" "0" "15167" "0" "c.*5269_*5270del" "r.(=)" "p.(=)" "" "0000322003" "00006156" "50" "15331" "0" "15331" "0" "c.*5434G>A" "r.(=)" "p.(=)" "" "0000322004" "00006156" "50" "15319" "0" "15319" "0" "c.*5422A>C" "r.(=)" "p.(=)" "" "0000322005" "00006156" "90" "15302" "0" "15302" "0" "c.*5405G>A" "r.(=)" "p.(=)" "" "0000322006" "00006156" "30" "15165" "0" "15167" "0" "c.*5268_*5270del" "r.(=)" "p.(=)" "" "0000322007" "00006156" "50" "15166" "0" "15167" "0" "c.*5269_*5270del" "r.(=)" "p.(=)" "" "0000322009" "00006156" "50" "13959" "0" "13959" "0" "c.*4062C>A" "r.(=)" "p.(=)" "" "0000322013" "00006156" "50" "8884" "0" "8884" "0" "c.8884C>T" "r.(?)" "p.(Arg2962Trp)" "" "0000322015" "00006156" "50" "8776" "0" "8776" "0" "c.8776G>A" "r.(?)" "p.(Ala2926Thr)" "" "0000322016" "00006156" "50" "8735" "0" "8735" "0" "c.8735G>A" "r.(?)" "p.(Arg2912Gln)" "" "0000322017" "00006156" "30" "8269" "0" "8269" "0" "c.8269G>A" "r.(?)" "p.(Ala2757Thr)" "" "0000322019" "00006156" "30" "7385" "0" "7385" "0" "c.7385G>A" "r.(?)" "p.(Arg2462Gln)" "" "0000322022" "00006156" "50" "6499" "0" "6499" "0" "c.6499A>T" "r.(?)" "p.(Asn2167Tyr)" "" "0000322025" "00006156" "30" "6272" "0" "6272" "0" "c.6272G>C" "r.(?)" "p.(Arg2091Thr)" "" "0000322027" "00006156" "50" "6071" "0" "6071" "0" "c.6071G>A" "r.(?)" "p.(Arg2024His)" "" "0000322029" "00006156" "50" "5434" "0" "5434" "0" "c.5434C>T" "r.(?)" "p.(Pro1812Ser)" "" "0000322030" "00006156" "50" "5370" "0" "5370" "0" "c.5370A>G" "r.(?)" "p.(=)" "" "0000322035" "00006156" "30" "4555" "0" "4555" "0" "c.4555C>T" "r.(?)" "p.(Pro1519Ser)" "" "0000322038" "00006156" "30" "4369" "0" "4369" "0" "c.4369A>G" "r.(?)" "p.(Thr1457Ala)" "" "0000322039" "00006156" "50" "4072" "0" "4072" "0" "c.4072G>A" "r.(?)" "p.(Glu1358Lys)" "" "0000322040" "00006156" "50" "4006" "0" "4006" "0" "c.4006G>C" "r.(?)" "p.(Val1336Leu)" "" "0000322041" "00006156" "50" "3629" "0" "3629" "0" "c.3629C>T" "r.(?)" "p.(Thr1210Met)" "" "0000322042" "00006156" "50" "3176" "0" "3176" "0" "c.3176C>A" "r.(?)" "p.(Ala1059Glu)" "" "0000322044" "00006156" "50" "3080" "0" "3080" "0" "c.3080C>T" "r.(?)" "p.(Pro1027Leu)" "" "0000322045" "00006156" "30" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Arg999Gln)" "" "0000322046" "00006156" "30" "2953" "0" "2953" "0" "c.2953C>T" "r.(?)" "p.(Arg985Trp)" "" "0000322047" "00006156" "50" "1521" "0" "1521" "0" "c.1521G>C" "r.(?)" "p.(Gln507His)" "" "0000322048" "00006156" "30" "1245" "0" "1245" "0" "c.1245C>A" "r.(?)" "p.(Ser415Arg)" "" "0000322051" "00006156" "30" "590" "0" "590" "0" "c.590C>T" "r.(?)" "p.(Pro197Leu)" "" "0000322052" "00006156" "30" "391" "0" "391" "0" "c.391G>T" "r.(?)" "p.(Val131Leu)" "" "0000322053" "00006156" "30" "91" "0" "99" "0" "c.91_99del" "r.(?)" "p.(Leu31_Leu33del)" "" "0000322054" "00006156" "30" "22" "0" "22" "0" "c.22G>C" "r.(?)" "p.(Val8Leu)" "" "0000341685" "00006156" "50" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Arg105Cys)" "" "0000344590" "00006156" "90" "14348" "0" "14348" "0" "c.*4451C>T" "r.(=)" "p.(=)" "" "0000348209" "00006156" "30" "4555" "0" "4555" "0" "c.4555C>T" "r.(?)" "p.(Pro1519Ser)" "" "0000348217" "00006156" "50" "14333" "0" "14333" "0" "c.*4436C>A" "r.(=)" "p.(=)" "" "0000349419" "00006156" "50" "8773" "0" "8773" "0" "c.8773A>C" "r.(?)" "p.(Thr2925Pro)" "" "0000350459" "00006156" "50" "8848" "0" "8848" "0" "c.8848G>C" "r.(?)" "p.(Val2950Leu)" "" "0000350715" "00006156" "50" "12896" "0" "12896" "0" "c.*2999A>G" "r.(=)" "p.(=)" "" "0000350764" "00006156" "90" "14522" "0" "14522" "0" "c.*4625G>C" "r.(=)" "p.(=)" "" "0000545162" "00006156" "10" "15319" "0" "15319" "0" "c.*5422A>C" "r.(=)" "p.(=)" "" "0000545163" "00006156" "50" "15164" "0" "15167" "0" "c.*5267_*5270del" "r.(=)" "p.(=)" "" "0000545164" "00006156" "30" "15167" "0" "15167" "0" "c.*5270del" "r.(?)" "p.(=)" "" "0000545165" "00006156" "30" "14810" "0" "14810" "0" "c.*4913T>A" "r.(=)" "p.(=)" "" "0000545167" "00006156" "90" "14636" "0" "14636" "0" "c.*4739C>T" "r.(=)" "p.(=)" "" "0000545168" "00006156" "90" "14522" "0" "14522" "0" "c.*4625G>C" "r.(=)" "p.(=)" "" "0000545169" "00006156" "90" "14522" "0" "14522" "0" "c.*4625G>A" "r.(=)" "p.(=)" "" "0000545170" "00006156" "10" "14238" "0" "14238" "0" "c.*4341dup" "r.(?)" "p.(=)" "" "0000545171" "00006156" "90" "14049" "0" "14049" "0" "c.*4152C>T" "r.(=)" "p.(=)" "" "0000545172" "00006156" "30" "13969" "0" "13969" "0" "c.*4072A>G" "r.(=)" "p.(=)" "" "0000545173" "00006156" "30" "13963" "0" "13963" "0" "c.*4066C>T" "r.(=)" "p.(=)" "" "0000545174" "00006156" "30" "13963" "0" "13963" "0" "c.*4066C>T" "r.(=)" "p.(=)" "" "0000545176" "00006156" "30" "12289" "0" "12289" "0" "c.*2392C>A" "r.(=)" "p.(=)" "" "0000545177" "00006156" "30" "9850" "0" "9850" "0" "c.9850G>A" "r.(?)" "p.(Ala3284Thr)" "" "0000545178" "00006156" "30" "9609" "0" "9609" "0" "c.9609C>G" "r.(?)" "p.(=)" "" "0000545180" "00006156" "50" "9331" "0" "9331" "0" "c.9331G>A" "r.(?)" "p.(Gly3111Arg)" "" "0000545181" "00006156" "50" "9295" "0" "9295" "0" "c.9295C>T" "r.(?)" "p.(=)" "" "0000545182" "00006156" "50" "9154" "0" "9154" "0" "c.9154C>T" "r.(?)" "p.(Arg3052Cys)" "" "0000545183" "00006156" "50" "8884" "0" "8884" "0" "c.8884C>T" "r.(?)" "p.(Arg2962Trp)" "" "0000545184" "00006156" "50" "8758" "0" "8758" "0" "c.8758G>A" "r.(?)" "p.(Val2920Met)" "" "0000545186" "00006156" "30" "8637" "0" "8637" "0" "c.8637C>T" "r.(?)" "p.(=)" "" "0000545187" "00006156" "30" "8599" "0" "8599" "0" "c.8599G>A" "r.(?)" "p.(Ala2867Thr)" "" "0000545190" "00006156" "30" "8443" "0" "8443" "0" "c.8443G>A" "r.(?)" "p.(Ala2815Thr)" "" "0000545191" "00006156" "30" "8264" "0" "8264" "0" "c.8264G>A" "r.(?)" "p.(Arg2755His)" "" "0000545192" "00006156" "30" "8196" "0" "8196" "0" "c.8196C>T" "r.(?)" "p.(=)" "" "0000545197" "00006156" "30" "7448" "0" "7448" "0" "c.7448C>T" "r.(?)" "p.(Thr2483Ile)" "" "0000545198" "00006156" "30" "7448" "0" "7448" "0" "c.7448C>T" "r.(?)" "p.(Thr2483Ile)" "" "0000545200" "00006156" "50" "7439" "0" "7439" "0" "c.7439C>T" "r.(?)" "p.(Pro2480Leu)" "" "0000545202" "00006156" "10" "7385" "0" "7385" "0" "c.7385G>A" "r.(?)" "p.(Arg2462Gln)" "" "0000545203" "00006156" "50" "7385" "0" "7385" "0" "c.7385G>A" "r.(?)" "p.(Arg2462Gln)" "" "0000545214" "00006156" "50" "7207" "0" "7207" "0" "c.7207C>T" "r.(?)" "p.(Arg2403Trp)" "" "0000545215" "00006156" "50" "7207" "0" "7207" "0" "c.7207C>T" "r.(?)" "p.(Arg2403Trp)" "" "0000545218" "00006156" "50" "7109" "0" "7109" "0" "c.7109A>G" "r.(?)" "p.(Asn2370Ser)" "" "0000545220" "00006156" "50" "7038" "0" "7038" "0" "c.7038G>T" "r.(?)" "p.(Gln2346His)" "" "0000545221" "00006156" "30" "6991" "0" "6991" "0" "c.6991G>A" "r.(?)" "p.(Val2331Ile)" "" "0000545222" "00006156" "30" "6961" "0" "6961" "0" "c.6961C>A" "r.(?)" "p.(Pro2321Thr)" "" "0000545224" "00006156" "30" "6897" "0" "6897" "0" "c.6897A>G" "r.(?)" "p.(=)" "" "0000545227" "00006156" "30" "6863" "-19" "6863" "-19" "c.6863-19C>A" "r.(=)" "p.(=)" "" "0000545228" "00006156" "30" "6863" "-19" "6863" "-19" "c.6863-19C>A" "r.(=)" "p.(=)" "" "0000545229" "00006156" "30" "6851" "0" "6851" "0" "c.6851G>A" "r.(?)" "p.(Arg2284Gln)" "" "0000545232" "00006156" "10" "6792" "0" "6792" "0" "c.6792G>A" "r.(?)" "p.(=)" "" "0000545233" "00006156" "30" "6792" "0" "6792" "0" "c.6792G>A" "r.(?)" "p.(=)" "" "0000545235" "00006156" "30" "6732" "0" "6732" "0" "c.6732G>A" "r.(?)" "p.(=)" "" "0000545246" "00006156" "50" "6566" "0" "6566" "0" "c.6566C>T" "r.(?)" "p.(Pro2189Leu)" "" "0000545247" "00006156" "30" "6517" "0" "6517" "0" "c.6517C>T" "r.(?)" "p.(Arg2173Trp)" "" "0000545248" "00006156" "10" "6515" "0" "6515" "0" "c.6515T>A" "r.(?)" "p.(Leu2172Gln)" "" "0000545249" "00006156" "30" "6515" "0" "6515" "0" "c.6515T>A" "r.(?)" "p.(Leu2172Gln)" "" "0000545250" "00006156" "30" "6495" "0" "6495" "0" "c.6495C>T" "r.(?)" "p.(=)" "" "0000545251" "00006156" "10" "6479" "0" "6479" "0" "c.6479C>T" "r.(?)" "p.(Thr2160Ile)" "" "0000545252" "00006156" "30" "6479" "0" "6479" "0" "c.6479C>T" "r.(?)" "p.(Thr2160Ile)" "" "0000545253" "00006156" "30" "6479" "0" "6479" "0" "c.6479C>T" "r.(?)" "p.(Thr2160Ile)" "" "0000545255" "00006156" "50" "6422" "0" "6422" "0" "c.6422G>A" "r.(?)" "p.(Arg2141Gln)" "" "0000545256" "00006156" "50" "6422" "0" "6422" "0" "c.6422G>A" "r.(?)" "p.(Arg2141Gln)" "" "0000545260" "00006156" "30" "6296" "0" "6296" "0" "c.6296A>G" "r.(?)" "p.(Asn2099Ser)" "" "0000545262" "00006156" "50" "5972" "0" "5972" "0" "c.5972G>A" "r.(?)" "p.(Arg1991His)" "" "0000545264" "00006156" "10" "5882" "0" "5882" "0" "c.5882C>T" "r.(?)" "p.(Pro1961Leu)" "" "0000545265" "00006156" "10" "5882" "0" "5882" "0" "c.5882C>T" "r.(?)" "p.(Pro1961Leu)" "" "0000545267" "00006156" "50" "5677" "0" "5677" "0" "c.5677T>C" "r.(?)" "p.(Tyr1893His)" "" "0000545268" "00006156" "30" "5604" "0" "5604" "0" "c.5604G>A" "r.(?)" "p.(=)" "" "0000545269" "00006156" "50" "5599" "0" "5599" "0" "c.5599G>T" "r.(?)" "p.(Asp1867Tyr)" "" "0000545270" "00006156" "50" "5567" "0" "5567" "0" "c.5567C>A" "r.(?)" "p.(Pro1856His)" "" "0000545271" "00006156" "30" "5561" "0" "5561" "0" "c.5561C>T" "r.(?)" "p.(Ala1854Val)" "" "0000545272" "00006156" "30" "5160" "0" "5160" "0" "c.5160A>T" "r.(?)" "p.(=)" "" "0000545273" "00006156" "50" "5160" "0" "5160" "0" "c.5160A>T" "r.(?)" "p.(=)" "" "0000545274" "00006156" "30" "5160" "0" "5160" "0" "c.5160A>T" "r.(?)" "p.(=)" "" "0000545275" "00006156" "10" "5127" "0" "5127" "0" "c.5127G>A" "r.(?)" "p.(=)" "" "0000545276" "00006156" "30" "5073" "0" "5073" "0" "c.5073C>T" "r.(?)" "p.(=)" "" "0000545277" "00006156" "30" "5035" "16" "5035" "16" "c.5035+16dup" "r.(=)" "p.(=)" "" "0000545278" "00006156" "30" "4938" "0" "4938" "0" "c.4938G>T" "r.(?)" "p.(=)" "" "0000545279" "00006156" "30" "4835" "0" "4835" "0" "c.4835G>A" "r.(?)" "p.(Arg1612Gln)" "" "0000545280" "00006156" "30" "4835" "0" "4835" "0" "c.4835G>A" "r.(?)" "p.(Arg1612Gln)" "" "0000545286" "00006156" "30" "4555" "0" "4555" "0" "c.4555C>T" "r.(?)" "p.(Pro1519Ser)" "" "0000545287" "00006156" "30" "4555" "0" "4555" "0" "c.4555C>T" "r.(?)" "p.(Pro1519Ser)" "" "0000545288" "00006156" "10" "4479" "0" "4479" "0" "c.4479G>A" "r.(?)" "p.(=)" "" "0000545290" "00006156" "30" "4392" "0" "4392" "0" "c.4392C>T" "r.(?)" "p.(=)" "" "0000545291" "00006156" "30" "4253" "0" "4253" "0" "c.4253G>T" "r.(?)" "p.(Arg1418Leu)" "" "0000545293" "00006156" "30" "4072" "0" "4072" "0" "c.4072G>A" "r.(?)" "p.(Glu1358Lys)" "" "0000545294" "00006156" "10" "4050" "0" "4050" "0" "c.4050G>C" "r.(?)" "p.(=)" "" "0000545295" "00006156" "10" "3798" "0" "3798" "0" "c.3798G>A" "r.(?)" "p.(=)" "" "0000545296" "00006156" "50" "3686" "0" "3686" "0" "c.3686G>A" "r.(?)" "p.(Arg1229His)" "" "0000545297" "00006156" "50" "3587" "0" "3587" "0" "c.3587C>A" "r.(?)" "p.(Thr1196Asn)" "" "0000545298" "00006156" "50" "3523" "0" "3523" "0" "c.3523A>G" "r.(?)" "p.(Ser1175Gly)" "" "0000545299" "00006156" "30" "3471" "0" "3471" "0" "c.3471C>T" "r.(?)" "p.(=)" "" "0000545301" "00006156" "50" "3184" "0" "3184" "0" "c.3184C>G" "r.(?)" "p.(Arg1062Gly)" "" "0000545302" "00006156" "10" "3176" "0" "3176" "0" "c.3176C>A" "r.(?)" "p.(Ala1059Glu)" "" "0000545303" "00006156" "30" "3158" "0" "3158" "0" "c.3158G>C" "r.(?)" "p.(Trp1053Ser)" "" "0000545305" "00006156" "30" "3028" "0" "3028" "0" "c.3028C>T" "r.(?)" "p.(Pro1010Ser)" "" "0000545307" "00006156" "30" "2975" "0" "2975" "0" "c.2975G>A" "r.(?)" "p.(Gly992Glu)" "" "0000545308" "00006156" "30" "2953" "0" "2953" "0" "c.2953C>T" "r.(?)" "p.(Arg985Trp)" "" "0000545309" "00006156" "50" "2932" "0" "2932" "0" "c.2932C>T" "r.(?)" "p.(Arg978Cys)" "" "0000545310" "00006156" "30" "2802" "0" "2802" "0" "c.2802T>G" "r.(?)" "p.(=)" "" "0000545311" "00006156" "30" "2755" "0" "2755" "0" "c.2755C>T" "r.(?)" "p.(Leu919Phe)" "" "0000545312" "00006156" "30" "2642" "0" "2642" "0" "c.2642G>A" "r.(?)" "p.(Arg881His)" "" "0000545314" "00006156" "30" "2548" "0" "2548" "0" "c.2548C>T" "r.(?)" "p.(Arg850Cys)" "" "0000545315" "00006156" "30" "2456" "-16" "2456" "-16" "c.2456-16T>C" "r.(=)" "p.(=)" "" "0000545316" "00006156" "30" "2123" "0" "2123" "0" "c.2123G>A" "r.(?)" "p.(Arg708His)" "" "0000545317" "00006156" "30" "2062" "0" "2062" "0" "c.2062C>T" "r.(?)" "p.(Arg688Trp)" "" "0000545318" "00006156" "50" "2000" "0" "2000" "0" "c.2000C>G" "r.(?)" "p.(Ser667Cys)" "" "0000545319" "00006156" "50" "1976" "0" "1976" "0" "c.1976C>A" "r.(?)" "p.(Ala659Asp)" "" "0000545320" "00006156" "50" "1936" "0" "1936" "0" "c.1936C>G" "r.(?)" "p.(Arg646Gly)" "" "0000545321" "00006156" "50" "1873" "0" "1873" "0" "c.1873G>A" "r.(?)" "p.(Gly625Arg)" "" "0000545322" "00006156" "50" "1832" "0" "1832" "0" "c.1832G>A" "r.(?)" "p.(Gly611Asp)" "" "0000545323" "00006156" "30" "1815" "0" "1815" "0" "c.1815G>A" "r.(?)" "p.(=)" "" "0000545324" "00006156" "30" "1794" "0" "1794" "0" "c.1794G>T" "r.(?)" "p.(=)" "" "0000545326" "00006156" "30" "1728" "0" "1728" "0" "c.1728C>T" "r.(?)" "p.(=)" "" "0000545327" "00006156" "30" "1656" "0" "1656" "0" "c.1656T>C" "r.(?)" "p.(=)" "" "0000545328" "00006156" "30" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Ala516Thr)" "" "0000545329" "00006156" "30" "1521" "0" "1521" "0" "c.1521G>C" "r.(?)" "p.(Gln507His)" "" "0000545330" "00006156" "30" "1493" "0" "1493" "0" "c.1493G>A" "r.(?)" "p.(Arg498Gln)" "" "0000545331" "00006156" "30" "1493" "0" "1493" "0" "c.1493G>A" "r.(?)" "p.(Arg498Gln)" "" "0000545332" "00006156" "50" "1457" "0" "1457" "0" "c.1457C>T" "r.(?)" "p.(Ala486Val)" "" "0000545333" "00006156" "50" "1283" "0" "1283" "0" "c.1283G>A" "r.(?)" "p.(Arg428Gln)" "" "0000545336" "00006156" "30" "1101" "0" "1101" "0" "c.1101C>T" "r.(?)" "p.(=)" "" "0000545341" "00006156" "50" "886" "0" "886" "0" "c.886C>G" "r.(?)" "p.(Arg296Gly)" "" "0000545343" "00006156" "30" "789" "0" "789" "0" "c.789G>C" "r.(?)" "p.(=)" "" "0000545344" "00006156" "30" "789" "0" "789" "0" "c.789G>A" "r.(?)" "p.(=)" "" "0000545346" "00006156" "30" "759" "0" "759" "0" "c.759G>A" "r.(?)" "p.(=)" "" "0000545347" "00006156" "30" "596" "0" "596" "0" "c.596C>G" "r.(?)" "p.(Pro199Arg)" "" "0000545348" "00006156" "30" "546" "0" "546" "0" "c.546A>G" "r.(?)" "p.(=)" "" "0000545349" "00006156" "30" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "" "0000545350" "00006156" "70" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Arg147Trp)" "" "0000545351" "00006156" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "0000545352" "00006156" "50" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "0000545354" "00006156" "30" "300" "0" "300" "0" "c.300C>T" "r.(?)" "p.(=)" "" "0000545355" "00006156" "30" "186" "0" "186" "0" "c.186C>T" "r.(?)" "p.(=)" "" "0000545357" "00006156" "10" "97" "0" "99" "0" "c.97_99del" "r.(?)" "p.(Leu33del)" "" "0000545359" "00006156" "30" "97" "0" "99" "0" "c.97_99del" "r.(?)" "p.(Leu33del)" "" "0000545360" "00006156" "10" "97" "0" "99" "0" "c.97_99dup" "r.(?)" "p.(Leu33dup)" "" "0000545361" "00006156" "10" "97" "0" "99" "0" "c.97_99dup" "r.(?)" "p.(Leu33dup)" "" "0000613595" "00006156" "30" "12856" "0" "12856" "0" "c.*2959C>T" "r.(=)" "p.(=)" "" "0000613596" "00006156" "50" "12790" "0" "12790" "0" "c.*2893G>A" "r.(=)" "p.(=)" "" "0000613597" "00006156" "50" "9797" "0" "9797" "0" "c.9797C>T" "r.(?)" "p.(Pro3266Leu)" "" "0000613598" "00006156" "50" "9365" "0" "9365" "0" "c.9365G>A" "r.(?)" "p.(Gly3122Asp)" "" "0000613599" "00006156" "50" "9097" "0" "9097" "0" "c.9097C>T" "r.(?)" "p.(Arg3033*)" "" "0000613606" "00006156" "30" "7030" "0" "7030" "0" "c.7030C>T" "r.(?)" "p.(Arg2344Cys)" "" "0000613608" "00006156" "30" "6616" "0" "6616" "0" "c.6616A>G" "r.(?)" "p.(Ile2206Val)" "" "0000613611" "00006156" "50" "5971" "0" "5971" "0" "c.5971C>A" "r.(?)" "p.(Arg1991Ser)" "" "0000613612" "00006156" "30" "4608" "0" "4608" "0" "c.4608C>T" "r.(?)" "p.(=)" "" "0000613613" "00006156" "30" "3769" "0" "3769" "0" "c.3769A>G" "r.(?)" "p.(Thr1257Ala)" "" "0000613614" "00006156" "50" "3688" "0" "3688" "0" "c.3688G>A" "r.(?)" "p.(Val1230Met)" "" "0000613615" "00006156" "50" "3670" "0" "3670" "0" "c.3670A>G" "r.(?)" "p.(Ile1224Val)" "" "0000613616" "00006156" "50" "3311" "0" "3327" "0" "c.3311_3327del" "r.(?)" "p.(Arg1104Hisfs*7)" "" "0000613617" "00006156" "30" "3081" "0" "3081" "0" "c.3081A>T" "r.(?)" "p.(=)" "" "0000613618" "00006156" "30" "2127" "0" "2127" "0" "c.2127C>A" "r.(?)" "p.(=)" "" "0000613619" "00006156" "30" "1845" "0" "1845" "0" "c.1845T>C" "r.(?)" "p.(=)" "" "0000613621" "00006156" "30" "1032" "0" "1032" "0" "c.1032C>T" "r.(?)" "p.(=)" "" "0000613622" "00006156" "50" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218His)" "" "0000613623" "00006156" "50" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161His)" "" "0000613624" "00006156" "50" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161His)" "" "0000613625" "00006156" "30" "97" "0" "99" "0" "c.97_99dup" "r.(?)" "p.(Leu33dup)" "" "0000622686" "00006156" "50" "14556" "0" "14556" "0" "c.*4659C>T" "r.(=)" "p.(=)" "" "0000622688" "00006156" "70" "12485" "0" "12485" "0" "c.*2588G>C" "r.(=)" "p.(=)" "" "0000622689" "00006156" "50" "7799" "0" "7799" "0" "c.7799C>T" "r.(?)" "p.(Pro2600Leu)" "" "0000622690" "00006156" "30" "7191" "0" "7191" "0" "c.7191C>T" "r.(?)" "p.(=)" "" "0000622691" "00006156" "30" "6921" "0" "6921" "0" "c.6921C>T" "r.(?)" "p.(=)" "" "0000622693" "00006156" "50" "5851" "0" "5851" "0" "c.5851C>T" "r.(?)" "p.(Arg1951Cys)" "" "0000622694" "00006156" "30" "5619" "0" "5619" "0" "c.5619G>A" "r.(?)" "p.(=)" "" "0000622695" "00006156" "50" "5503" "0" "5503" "0" "c.5503C>T" "r.(?)" "p.(Leu1835Phe)" "" "0000622696" "00006156" "10" "5127" "0" "5127" "0" "c.5127G>A" "r.(?)" "p.(=)" "" "0000622697" "00006156" "10" "4470" "0" "4470" "0" "c.4470G>C" "r.(?)" "p.(=)" "" "0000622698" "00006156" "30" "2123" "0" "2123" "0" "c.2123G>A" "r.(?)" "p.(Arg708His)" "" "0000622699" "00006156" "30" "1545" "0" "1545" "0" "c.1545C>T" "r.(?)" "p.(=)" "" "0000622700" "00006156" "30" "834" "0" "834" "0" "c.834C>T" "r.(?)" "p.(=)" "" "0000648350" "00006156" "90" "7538" "0" "7538" "0" "c.7538G>A" "r.(?)" "p.(Arg2513His)" "" "0000656869" "00006156" "30" "8043" "0" "8043" "0" "c.8043C>T" "r.(?)" "p.(=)" "" "0000656873" "00006156" "30" "6468" "0" "6468" "0" "c.6468G>A" "r.(?)" "p.(=)" "" "0000656875" "00006156" "50" "6190" "0" "6190" "0" "c.6190C>T" "r.(?)" "p.(Arg2064Cys)" "" "0000656877" "00006156" "50" "4355" "0" "4355" "0" "c.4355G>A" "r.(?)" "p.(Gly1452Asp)" "" "0000656878" "00006156" "50" "3512" "0" "3512" "0" "c.3512G>A" "r.(?)" "p.(Arg1171His)" "" "0000656879" "00006156" "10" "3158" "0" "3158" "0" "c.3158G>C" "r.(?)" "p.(Trp1053Ser)" "" "0000656880" "00006156" "50" "949" "0" "949" "0" "c.949G>A" "r.(?)" "p.(Glu317Lys)" "" "0000656881" "00006156" "50" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Glu96Lys)" "" "0000679286" "00006156" "30" "12433" "0" "12433" "0" "c.*2536C>A" "r.(=)" "p.(=)" "" "0000679287" "00006156" "30" "9834" "0" "9834" "0" "c.9834A>G" "r.(?)" "p.(=)" "" "0000679288" "00006156" "30" "9798" "0" "9798" "0" "c.9798C>T" "r.(?)" "p.(=)" "" "0000679289" "00006156" "50" "9269" "0" "9269" "0" "c.9269A>T" "r.(?)" "p.(Tyr3090Phe)" "" "0000679294" "00006156" "50" "6820" "0" "6820" "0" "c.6820C>T" "r.(?)" "p.(Arg2274Cys)" "" "0000679297" "00006156" "30" "4819" "0" "4819" "0" "c.4819T>C" "r.(?)" "p.(=)" "" "0000679299" "00006156" "50" "4142" "0" "4142" "0" "c.4142T>G" "r.(?)" "p.(Leu1381Arg)" "" "0000679300" "00006156" "50" "2851" "0" "2851" "0" "c.2851C>T" "r.(?)" "p.(Arg951Trp)" "" "0000679301" "00006156" "30" "1467" "0" "1467" "0" "c.1467C>A" "r.(?)" "p.(=)" "" "0000691136" "00006156" "90" "13907" "0" "13907" "0" "c.*4010C>A" "r.(=)" "p.(=)" "" "0000691138" "00006156" "30" "8758" "0" "8758" "0" "c.8758G>A" "r.(?)" "p.(Val2920Met)" "" "0000691139" "00006156" "50" "7609" "0" "7609" "0" "c.7609C>T" "r.(?)" "p.(=)" "" "0000691140" "00006156" "30" "7286" "-14" "7286" "-14" "c.7286-14C>T" "r.(=)" "p.(=)" "" "0000691141" "00006156" "30" "7076" "0" "7076" "0" "c.7076G>A" "r.(?)" "p.(Arg2359His)" "" "0000691142" "00006156" "30" "6803" "0" "6803" "0" "c.6803T>C" "r.(?)" "p.(Ile2268Thr)" "" "0000691147" "00006156" "30" "4498" "0" "4498" "0" "c.4498G>A" "r.(?)" "p.(Gly1500Ser)" "" "0000691150" "00006156" "50" "1425" "0" "1425" "0" "c.1425G>C" "r.(?)" "p.(Gln475His)" "" "0000699802" "00006156" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Ala2216Val)" "" "0000699817" "00006156" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Gln1714*)" "" "0000699872" "00006156" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Thr930Ser)" "" "0000699888" "00006156" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Val290Leu)" "" "0000723612" "00006156" "70" "15301" "0" "15301" "0" "c.*5404C>T" "r.(=)" "p.(=)" "" "0000723613" "00006156" "50" "14525" "0" "14525" "0" "c.*4628G>A" "r.(=)" "p.(=)" "" "0000723614" "00006156" "90" "14522" "0" "14522" "0" "c.*4625G>C" "r.(=)" "p.(=)" "" "0000723615" "00006156" "50" "8390" "0" "8390" "0" "c.8390T>C" "r.(?)" "p.(Val2797Ala)" "" "0000723620" "00006156" "30" "7207" "0" "7207" "0" "c.7207C>T" "r.(?)" "p.(Arg2403Trp)" "" "0000723623" "00006156" "30" "6363" "0" "6363" "0" "c.6363A>G" "r.(?)" "p.(=)" "" "0000723624" "00006156" "50" "6133" "0" "6133" "0" "c.6133C>T" "r.(?)" "p.(Arg2045Cys)" "" "0000723626" "00006156" "50" "5918" "0" "5918" "0" "c.5918G>A" "r.(?)" "p.(Gly1973Asp)" "" "0000723627" "00006156" "50" "5594" "0" "5594" "0" "c.5594C>T" "r.(?)" "p.(Pro1865Leu)" "" "0000723629" "00006156" "30" "5035" "16" "5035" "16" "c.5035+16dup" "r.(=)" "p.(=)" "" "0000723630" "00006156" "30" "4964" "0" "4964" "0" "c.4964G>C" "r.(?)" "p.(Ser1655Thr)" "" "0000723631" "00006156" "30" "4731" "0" "4731" "0" "c.4731T>C" "r.(?)" "p.(=)" "" "0000723632" "00006156" "30" "4555" "0" "4555" "0" "c.4555C>T" "r.(?)" "p.(Pro1519Ser)" "" "0000723633" "00006156" "30" "4201" "0" "4201" "0" "c.4201C>A" "r.(?)" "p.(Pro1401Thr)" "" "0000723634" "00006156" "30" "4092" "0" "4092" "0" "c.4092A>G" "r.(?)" "p.(=)" "" "0000723635" "00006156" "30" "3930" "20" "3930" "20" "c.3930+20C>T" "r.(=)" "p.(=)" "" "0000723636" "00006156" "30" "3687" "0" "3687" "0" "c.3687C>T" "r.(?)" "p.(=)" "" "0000723637" "00006156" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "" "0000723638" "00006156" "50" "3020" "0" "3020" "0" "c.3020T>G" "r.(?)" "p.(Val1007Gly)" "" "0000723639" "00006156" "30" "2975" "0" "2975" "0" "c.2975G>A" "r.(?)" "p.(Gly992Glu)" "" "0000723640" "00006156" "30" "2701" "0" "2701" "0" "c.2701G>A" "r.(?)" "p.(Val901Ile)" "" "0000723641" "00006156" "30" "2548" "0" "2548" "0" "c.2548C>T" "r.(?)" "p.(Arg850Cys)" "" "0000723642" "00006156" "30" "2219" "-3" "2219" "-3" "c.2219-3C>T" "r.spl?" "p.?" "" "0000723643" "00006156" "30" "2217" "0" "2217" "0" "c.2217A>G" "r.(?)" "p.(=)" "" "0000723644" "00006156" "30" "1493" "0" "1493" "0" "c.1493G>A" "r.(?)" "p.(Arg498Gln)" "" "0000723648" "00006156" "30" "704" "0" "704" "0" "c.704G>A" "r.(?)" "p.(Arg235Gln)" "" "0000723649" "00006156" "50" "701" "0" "701" "0" "c.701C>A" "r.(?)" "p.(Pro234His)" "" "0000805295" "00006156" "70" "15302" "0" "15302" "0" "c.*5405G>A" "r.(=)" "p.(=)" "" "0000805296" "00006156" "50" "14925" "0" "14925" "0" "c.*5028C>T" "r.(=)" "p.(=)" "" "0000805297" "00006156" "90" "14522" "0" "14522" "0" "c.*4625G>C" "r.(=)" "p.(=)" "" "0000805298" "00006156" "30" "12772" "0" "12772" "0" "c.*2875G>A" "r.(=)" "p.(=)" "" "0000805299" "00006156" "30" "9243" "0" "9243" "0" "c.9243C>T" "r.(?)" "p.(=)" "" "0000805300" "00006156" "50" "8443" "0" "8443" "0" "c.8443G>A" "r.(?)" "p.(Ala2815Thr)" "" "0000805301" "00006156" "30" "8322" "0" "8322" "0" "c.8322C>T" "r.(?)" "p.(=)" "" "0000805312" "00006156" "30" "6205" "0" "6205" "0" "c.6205C>A" "r.(?)" "p.(Pro2069Thr)" "" "0000805313" "00006156" "30" "5956" "0" "5956" "0" "c.5956C>T" "r.(?)" "p.(=)" "" "0000805314" "00006156" "50" "5639" "0" "5639" "0" "c.5639A>G" "r.(?)" "p.(His1880Arg)" "" "0000805315" "00006156" "30" "5531" "0" "5531" "0" "c.5531C>T" "r.(?)" "p.(Thr1844Ile)" "" "0000805317" "00006156" "30" "4608" "0" "4608" "0" "c.4608C>T" "r.(?)" "p.(=)" "" "0000805318" "00006156" "30" "3686" "0" "3686" "0" "c.3686G>A" "r.(?)" "p.(Arg1229His)" "" "0000805319" "00006156" "50" "2699" "0" "2699" "0" "c.2699C>T" "r.(?)" "p.(Thr900Met)" "" "0000805320" "00006156" "30" "2625" "0" "2625" "0" "c.2625C>T" "r.(?)" "p.(=)" "" "0000805321" "00006156" "30" "2127" "0" "2127" "0" "c.2127C>A" "r.(?)" "p.(=)" "" "0000805322" "00006156" "30" "2025" "0" "2025" "0" "c.2025G>C" "r.(?)" "p.(=)" "" "0000805323" "00006156" "50" "1679" "0" "1679" "0" "c.1679C>T" "r.(?)" "p.(Ser560Phe)" "" "0000805324" "00006156" "30" "1458" "0" "1458" "0" "c.1458G>A" "r.(?)" "p.(=)" "" "0000805325" "00006156" "10" "1122" "0" "1122" "0" "c.1122A>G" "r.(?)" "p.(=)" "" "0000805327" "00006156" "30" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "" "0000805328" "00006156" "50" "171" "0" "171" "0" "c.171G>A" "r.(?)" "p.(=)" "" "0000822018" "00006156" "70" "2500" "0" "2500" "0" "c.2500C>T" "r.(?)" "p.(Arg834*)" "" "0000822019" "00006156" "50" "4463" "0" "4463" "0" "c.4463T>C" "r.(?)" "p.(Leu1488Pro)" "" "0000853100" "00006156" "50" "15277" "0" "15277" "0" "c.*5380T>C" "r.(=)" "p.(=)" "" "0000853101" "00006156" "30" "15225" "0" "15225" "0" "c.*5328T>C" "r.(=)" "p.(=)" "" "0000853102" "00006156" "10" "15165" "0" "15167" "0" "c.*5268_*5270del" "r.(=)" "p.(=)" "" "0000853103" "00006156" "10" "15167" "0" "15167" "0" "c.*5270del" "r.(?)" "p.(=)" "" "0000853104" "00006156" "30" "9558" "0" "9558" "0" "c.9558C>G" "r.(?)" "p.(=)" "" "0000853106" "00006156" "50" "7147" "0" "7147" "0" "c.7147G>A" "r.(?)" "p.(Val2383Ile)" "" "0000853108" "00006156" "70" "6988" "0" "6988" "0" "c.6988C>T" "r.(?)" "p.(Arg2330Cys)" "" "0000853111" "00006156" "50" "6028" "0" "6028" "0" "c.6028G>A" "r.(?)" "p.(Gly2010Ser)" "" "0000853112" "00006156" "50" "5431" "0" "5431" "0" "c.5431C>T" "r.(?)" "p.(Arg1811Trp)" "" "0000853113" "00006156" "50" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Arg775*)" "" "0000853114" "00006156" "90" "2155" "0" "2155" "0" "c.2155C>T" "r.(?)" "p.(Arg719*)" "" "0000853117" "00006156" "50" "212" "0" "212" "0" "c.212G>C" "r.(?)" "p.(Gly71Ala)" "" "0000862645" "00006156" "50" "9824" "0" "9824" "0" "c.9824A>G" "r.(?)" "p.(Gln3275Arg)" "" "0000862646" "00006156" "30" "7286" "-13" "7286" "-13" "c.7286-13G>A" "r.(=)" "p.(=)" "" "0000862647" "00006156" "30" "7072" "0" "7072" "0" "c.7072G>A" "r.(?)" "p.(Gly2358Ser)" "" "0000862648" "00006156" "30" "6597" "0" "6597" "0" "c.6597T>C" "r.(?)" "p.(=)" "" "0000862651" "00006156" "30" "6355" "0" "6355" "0" "c.6355C>A" "r.(?)" "p.(Pro2119Thr)" "" "0000862652" "00006156" "30" "4476" "0" "4476" "0" "c.4476C>G" "r.(?)" "p.(=)" "" "0000862653" "00006156" "50" "2548" "0" "2548" "0" "c.2548C>T" "r.(?)" "p.(Arg850Cys)" "" "0000872366" "00006156" "50" "3064" "0" "3064" "0" "c.3064G>T" "r.(?)" "p.(Val1022Leu)" "" "0000890095" "00006156" "90" "14636" "0" "14636" "0" "c.*4739C>T" "r.(=)" "p.(=)" "" "0000890096" "00006156" "50" "7643" "0" "7643" "0" "c.7643C>T" "r.(?)" "p.(Pro2548Leu)" "" "0000890103" "00006156" "10" "6792" "0" "6792" "0" "c.6792G>A" "r.(?)" "p.(=)" "" "0000890107" "00006156" "50" "6199" "0" "6199" "0" "c.6199C>T" "r.(?)" "p.(Arg2067Cys)" "" "0000890110" "00006156" "30" "5483" "0" "5483" "0" "c.5483G>A" "r.(?)" "p.(Arg1828Gln)" "" "0000890111" "00006156" "50" "3265" "0" "3265" "0" "c.3265G>A" "r.(?)" "p.(Ala1089Thr)" "" "0000890112" "00006156" "50" "1575" "0" "1575" "0" "c.1575dup" "r.(?)" "p.(Thr526Hisfs*14)" "" "0000890114" "00006156" "50" "683" "0" "683" "0" "c.683A>G" "r.(?)" "p.(Tyr228Cys)" "" "0000913667" "00006156" "50" "8482" "0" "8482" "0" "c.8482C>T" "r.(?)" "p.(Arg2828Cys)" "" "0000913671" "00006156" "50" "1696" "0" "1696" "0" "c.1696G>A" "r.(?)" "p.(Val566Met)" "" "0000913672" "00006156" "30" "1545" "0" "1545" "0" "c.1545C>T" "r.(?)" "p.(=)" "" "0000913673" "00006156" "50" "1383" "0" "1383" "0" "c.1383C>A" "r.(?)" "p.(His461Gln)" "" "0000913674" "00006156" "50" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235Trp)" "" "0000913675" "00006156" "30" "596" "0" "596" "0" "c.596C>G" "r.(?)" "p.(Pro199Arg)" "" "0000918634" "00006156" "70" "9115" "0" "9115" "0" "c.9115G>C" "r.(?)" "p.(Ala3039Pro)" "" "0000925480" "00006156" "50" "2382" "0" "2382" "0" "c.2382G>C" "r.(?)" "p.(Gln794His)" "" "0000925481" "00006156" "50" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Arg429Gln)" "" "0000925482" "00006156" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "0000929953" "00006156" "30" "8404" "0" "8404" "0" "c.8404C>T" "r.(?)" "p.(=)" "" "0000929955" "00006156" "10" "5882" "0" "5882" "0" "c.5882C>T" "r.(?)" "p.(Pro1961Leu)" "" "0000929956" "00006156" "30" "5370" "0" "5370" "0" "c.5370A>G" "r.(?)" "p.(=)" "" "0000929957" "00006156" "30" "2700" "0" "2700" "0" "c.2700G>A" "r.(?)" "p.(=)" "" "0000929958" "00006156" "10" "1245" "0" "1245" "0" "c.1245C>A" "r.(?)" "p.(Ser415Arg)" "" "0000929960" "00006156" "10" "97" "0" "99" "0" "c.97_99del" "r.(?)" "p.(Leu33del)" "" "0000949765" "00006156" "10" "6479" "0" "6479" "0" "c.6479C>T" "r.(?)" "p.(Thr2160Ile)" "" "0000949766" "00006156" "30" "4938" "0" "4938" "0" "c.4938G>T" "r.(?)" "p.(=)" "" "0000949767" "00006156" "30" "3686" "0" "3686" "0" "c.3686G>A" "r.(?)" "p.(Arg1229His)" "" "0000949768" "00006156" "50" "2668" "0" "2668" "0" "c.2668A>G" "r.(?)" "p.(Asn890Asp)" "" "0000949769" "00006156" "30" "2127" "0" "2127" "0" "c.2127C>A" "r.(?)" "p.(=)" "" "0000949770" "00006156" "30" "1545" "0" "1545" "0" "c.1545C>T" "r.(?)" "p.(=)" "" "0000966512" "00006156" "30" "7285" "66" "7285" "66" "c.7285+66T>C" "r.(=)" "p.(=)" "" "0000966518" "00006156" "50" "5498" "0" "5498" "0" "c.5498C>T" "r.(?)" "p.(Pro1833Leu)" "" "0000966523" "00006156" "30" "2975" "0" "2975" "0" "c.2975G>A" "r.(?)" "p.(Gly992Glu)" "" "0000966524" "00006156" "30" "2037" "0" "2037" "0" "c.2037T>C" "r.(?)" "p.(=)" "" "0000979770" "00006156" "50" "8821" "0" "8821" "0" "c.8821G>A" "r.(?)" "p.(Val2941Met)" "" "0000979771" "00006156" "30" "8637" "0" "8637" "0" "c.8637C>T" "r.(?)" "p.(=)" "" "0000979776" "00006156" "30" "6732" "-8" "6732" "-8" "c.6732-8G>A" "r.(=)" "p.(=)" "" "0000979780" "00006156" "50" "5031" "0" "5031" "0" "c.5031C>A" "r.(?)" "p.(Asp1677Glu)" "" "0000979781" "00006156" "30" "3686" "0" "3686" "0" "c.3686G>A" "r.(?)" "p.(Arg1229His)" "" "0000979782" "00006156" "50" "2961" "0" "2963" "0" "c.2961_2963dup" "r.(?)" "p.(Val988dup)" "" "0000999333" "00006156" "30" "13969" "0" "13969" "0" "c.*4072A>G" "r.(=)" "p.(=)" "" "0000999334" "00006156" "50" "9368" "0" "9368" "0" "c.9368G>A" "r.(?)" "p.(Cys3123Tyr)" "" "0000999335" "00006156" "50" "9334" "0" "9334" "0" "c.9334C>A" "r.(?)" "p.(Pro3112Thr)" "" "0000999336" "00006156" "30" "9158" "0" "9158" "0" "c.9158T>A" "r.(?)" "p.(Val3053Glu)" "" "0000999337" "00006156" "30" "8627" "0" "8627" "0" "c.8627C>A" "r.(?)" "p.(Ala2876Glu)" "" "0000999338" "00006156" "30" "8602" "0" "8602" "0" "c.8602C>A" "r.(?)" "p.(Leu2868Met)" "" "0000999339" "00006156" "30" "8446" "0" "8446" "0" "c.8446C>A" "r.(?)" "p.(Pro2816Thr)" "" "0000999343" "00006156" "30" "7391" "0" "7391" "0" "c.7391C>T" "r.(?)" "p.(Ala2464Val)" "" "0000999351" "00006156" "30" "7210" "0" "7210" "0" "c.7210G>T" "r.(?)" "p.(Asp2404Tyr)" "" "0000999365" "00006156" "30" "4789" "0" "4789" "0" "c.4789A>C" "r.(?)" "p.(Ser1597Arg)" "" "0000999366" "00006156" "30" "4558" "0" "4558" "0" "c.4558G>T" "r.(?)" "p.(Ala1520Ser)" "" "0000999367" "00006156" "30" "4556" "0" "4556" "0" "c.4556C>A" "r.(?)" "p.(Pro1519His)" "" "0000999368" "00006156" "50" "4145" "0" "4145" "0" "c.4145A>G" "r.(?)" "p.(Asp1382Gly)" "" "0000999369" "00006156" "30" "3856" "0" "3856" "0" "c.3856C>T" "r.(?)" "p.(His1286Tyr)" "" "0000999370" "00006156" "30" "3813" "0" "3813" "0" "c.3813G>A" "r.(?)" "p.(=)" "" "0000999371" "00006156" "30" "3691" "0" "3691" "0" "c.3691C>A" "r.(?)" "p.(Pro1231Thr)" "" "0000999372" "00006156" "30" "3673" "0" "3673" "0" "c.3673C>G" "r.(?)" "p.(Gln1225Glu)" "" "0000999373" "00006156" "30" "3161" "0" "3161" "0" "c.3161T>C" "r.(?)" "p.(Leu1054Pro)" "" "0000999374" "00006156" "30" "2978" "0" "2978" "0" "c.2978C>A" "r.(?)" "p.(Thr993Asn)" "" "0000999375" "00006156" "50" "2936" "0" "2936" "0" "c.2936C>A" "r.(?)" "p.(Thr979Asn)" "" "0000999376" "00006156" "50" "2855" "0" "2855" "0" "c.2855T>A" "r.(?)" "p.(Leu952His)" "" "0000999377" "00006156" "50" "2854" "0" "2854" "0" "c.2854C>T" "r.(?)" "p.(Leu952Phe)" "" "0000999378" "00006156" "50" "2428" "0" "2428" "0" "c.2428G>A" "r.(?)" "p.(Gly810Ser)" "" "0000999379" "00006156" "30" "2126" "0" "2126" "0" "c.2126C>A" "r.(?)" "p.(Ala709Asp)" "" "0000999380" "00006156" "50" "1976" "0" "1976" "0" "c.1976C>G" "r.(?)" "p.(Ala659Gly)" "" "0000999381" "00006156" "50" "1835" "0" "1835" "0" "c.1835T>A" "r.(?)" "p.(Leu612His)" "" "0000999382" "00006156" "30" "1661" "0" "1661" "0" "c.1661G>A" "r.(?)" "p.(Gly554Asp)" "" "0000999383" "00006156" "50" "1208" "0" "1208" "0" "c.1208T>G" "r.(?)" "p.(Val403Gly)" "" "0000999384" "00006156" "30" "955" "0" "955" "0" "c.955C>T" "r.(?)" "p.(Pro319Ser)" "" "0000999385" "00006156" "50" "707" "0" "707" "0" "c.707G>A" "r.(?)" "p.(Arg236Lys)" "" "0000999386" "00006156" "50" "590" "0" "590" "0" "c.590C>T" "r.(?)" "p.(Pro197Leu)" "" "0000999387" "00006156" "50" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Arg174Cys)" "" "0000999388" "00006156" "30" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Glu128Lys)" "" "0000999389" "00006156" "30" "289" "0" "289" "0" "c.289C>A" "r.(?)" "p.(His97Asn)" "" "0000999391" "00006156" "50" "101" "0" "103" "0" "c.101_103del" "r.(?)" "p.(Gly34del)" "" "0000999392" "00006156" "30" "101" "0" "103" "0" "c.101_103dup" "r.(?)" "p.(Gly34dup)" "" "0001014862" "00006156" "50" "12809" "0" "12809" "0" "c.*2912G>T" "r.(=)" "p.(=)" "" "0001014863" "00006156" "50" "8848" "0" "8848" "0" "c.8848G>C" "r.(?)" "p.(Val2950Leu)" "" "0001014864" "00006156" "50" "5684" "0" "5684" "0" "c.5684G>C" "r.(?)" "p.(Gly1895Ala)" "" "0001014865" "00006156" "10" "5160" "0" "5160" "0" "c.5160A>T" "r.(?)" "p.(=)" "" "0001014866" "00006156" "90" "2810" "0" "2810" "0" "c.2810del" "r.(?)" "p.(Gly937Valfs*17)" "" "0001014867" "00006156" "70" "281" "0" "281" "0" "c.281T>C" "r.(?)" "p.(Ile94Thr)" "" "0001026055" "00006156" "50" "3185" "0" "3185" "0" "c.3185G>A" "r.(?)" "p.(Arg1062His)" "" "0001026056" "00006156" "50" "3016" "0" "3016" "0" "c.3016C>T" "r.(?)" "p.(Arg1006Cys)" "" "0001026057" "00006156" "50" "1313" "0" "1313" "0" "c.1313A>G" "r.(?)" "p.(Tyr438Cys)" "" "0001026058" "00006156" "30" "1032" "0" "1032" "0" "c.1032C>T" "r.(?)" "p.(=)" "" "0001026059" "00006156" "50" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Gly337Asp)" "" "0001027875" "00006156" "30" "9357" "0" "9357" "0" "c.9357C>T" "r.(?)" "p.(Phe3119=)" "" "0001038627" "00006156" "50" "8302" "0" "8302" "0" "c.8302C>T" "r.(?)" "p.(Arg2768Cys)" "" "0001038638" "00006156" "50" "5972" "0" "5972" "0" "c.5972G>A" "r.(?)" "p.(Arg1991His)" "" "0001038639" "00006156" "30" "5882" "0" "5882" "0" "c.5882C>T" "r.(?)" "p.(Pro1961Leu)" "" "0001038640" "00006156" "30" "5697" "0" "5697" "0" "c.5697A>G" "r.(?)" "p.(=)" "" "0001038644" "00006156" "30" "4476" "0" "4476" "0" "c.4476C>G" "r.(?)" "p.(=)" "" "0001038645" "00006156" "30" "4080" "0" "4080" "0" "c.4080G>A" "r.(?)" "p.(=)" "" "0001038646" "00006156" "30" "4050" "0" "4050" "0" "c.4050G>C" "r.(?)" "p.(=)" "" "0001038647" "00006156" "30" "3798" "0" "3798" "0" "c.3798G>A" "r.(?)" "p.(=)" "" "0001038648" "00006156" "10" "3546" "0" "3546" "0" "c.3546G>A" "r.(?)" "p.(=)" "" "0001038649" "00006156" "50" "2834" "0" "2834" "0" "c.2834C>T" "r.(?)" "p.(Pro945Leu)" "" "0001038650" "00006156" "50" "2641" "0" "2641" "0" "c.2641C>T" "r.(?)" "p.(Arg881Cys)" "" "0001038651" "00006156" "30" "2382" "0" "2382" "0" "c.2382G>C" "r.(?)" "p.(Gln794His)" "" "0001038652" "00006156" "10" "1675" "0" "1675" "0" "c.1675G>T" "r.(?)" "p.(Ala559Ser)" "" "0001038653" "00006156" "30" "1398" "0" "1398" "0" "c.1398C>T" "r.(?)" "p.(=)" "" "0001038656" "00006156" "50" "932" "0" "932" "0" "c.932C>T" "r.(?)" "p.(Thr311Met)" "" "0001038658" "00006156" "30" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(His20Tyr)" "" "0001046326" "00006156" "30" "5971" "0" "5971" "0" "c.5971C>A" "r.(?)" "p.(Arg1991Ser)" "" "0001046327" "00006156" "30" "5503" "0" "5503" "0" "c.5503C>T" "r.(?)" "p.(Leu1835Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000065283" "0000096955" "0000065306" "0000096983" "0000104202" "0000918634" "0000291661" "0000648350" "0000317278" "0000699802" "0000317293" "0000699817" "0000317348" "0000699872" "0000317364" "0000699888" "0000391951" "0000822018" "0000391951" "0000822019" "0000414511" "0000872366"