### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = C2CD3) # 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}}" "C2CD3" "C2 calcium-dependent domain containing 3" "11" "q13.4" "unknown" "NG_041791.1" "UD_143878690122" "" "https://www.LOVD.nl/C2CD3" "" "1" "24564" "26005" "615944" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/C2CD3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-05-04 15:14:14" "00000" "2026-01-20 18:57:21" ## 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}}" "00003665" "C2CD3" "C2 calcium-dependent domain containing 3" "001" "NM_015531.4" "" "NP_056346.3" "" "" "" "-227" "6055" "5892" "73882064" "73745480" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "04144" "OFD14" "orofaciodigital syndrome, type XIV (OFD-14)" "AR" "615948" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "C2CD3" "04144" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00163842" "" "" "" "1" "" "02455" "" "" "M" "no" "United States" "" "0" "" "" "" "Family1_Proband" "00163924" "" "" "" "1" "" "02455" "" "" "F" "no" "" "" "0" "" "" "" "Family2_Proband" "00163925" "" "" "" "1" "" "02455" "" "" "M" "no" "" "" "0" "" "" "" "Family3_Proband" "00163996" "" "" "" "2" "" "00006" "{PMID:Srour 2015:26477546}" "2-generation family, 2 affected bothers, unaffected heterozygous carrier parents" "M" "no" "Canada" "" "0" "" "" "French-Canadian" "Fam581Pat1299,472" "00163997" "" "" "" "1" "" "00006" "{PMID:Thauvin-Robinet 2014:24997988}" "2-generation family, affected brother and neonatally deceased younger sister, unaffected heterozygous carrier parents/relatives" "M" "yes" "Lebanon" "" "0" "" "" "" "24997988-Pat1" "00163998" "" "" "" "1" "" "00006" "{PMID:Thauvin-Robinet 2014:24997988}" "male fetus" "M" "no" "France" "" "0" "" "" "" "24997988-Pat2" "00290531" "" "" "" "67" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290532" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304319" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304320" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00363571" "" "" "00163996" "1" "" "00000" "{PMID:Srour 2015:26477546}" "relative" "M" "" "Canada" "" "0" "" "" "French-Canadian" "Fam581Pat1294,472" "00372145" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW157-3" "00372146" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW293-3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00163842" "04144" "00163924" "04144" "00163925" "04144" "00163996" "05109" "00163997" "04144" "00163998" "04144" "00290531" "00198" "00290532" "00198" "00304319" "00198" "00304320" "00198" "00363571" "05109" "00372145" "05109" "00372146" "05109" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04144, 05109 ## 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}}" "0000128956" "01716" "00163842" "02455" "Familial, autosomal recessive" "" "Dandy-Walker malformation (HP:0001305), molar-tooth sign (HP:0002419), developmental delay (HP:0001263), microcephaly (HP:0000252), cleft upper lip (HP:0000204), natal tooth (HP:0000695), hamartoma of tongue (HP:0011802), microretrognathia (HP:0000308), postaxial polydactyly (HP:0100259), cryptorchidism (HP:0000028), patent ductus arteriosis (HP:0001643); retinal coloboma (HP:0000480), hypotonia (HP:0001290)" "<00y" "" "<0y" "" "" "" "" "" "Orofaciodigital syndrome type 14" "" "" "0000129036" "04144" "00163924" "02455" "Familial, autosomal recessive" "<00y" "Occipital encephalocele (HP:0002085), bifid tongue (HP:0010297), sloping forehead (HP:0000340), microretrognathia (HP:0000308), ventricular septal defect (HP:0001629), hypoplastic thyroid (HP:0005990)" "" "" "" "" "" "" "" "" "" "" "" "0000129037" "04144" "00163925" "02455" "Familial, autosomal recessive" "" "molar tooth sign (HP:0002419), global developmental delay (HP:0001263), lobulated tongue (HP:0000180), micrognathia (HP:0000347), retinal coloboma (HP:0000480), posteriorly rotated ears (HP:0000358), intrauterine growth restriction (HP:0001511), hypotonia (HP:0001290)" "<00y" "" "" "" "" "" "" "" "" "" "" "0000129099" "05109" "00163996" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000129100" "04144" "00163997" "00006" "Familial, autosomal recessive" "04y" "facial dysmorphism, cleft tongue, lobulated tongue, buccal frenulae, lingual hamartoma, cleft palate, absent epiglottis, supernumary teeth, bilaterail hand post axial polydactyly, bilateral broad hallux; microcephaly (OFC 42.3cm, -5 SD); no ataxia, no abnormal eye movements, no nystagmus, no ventilatory disorders (apnea, hyperpnea), no deafness, retinopathy, intellectual disability; walking, no speech; molar tooth signs; incomplete corpus callosum agenesis, subarachnoid cysts, myelinisation defect, no cardiac malformations, no abdominorenal malformations; micropenis; sister similar anomalies and cardiac malformation leading to neonatal death" "" "" "" "" "" "" "" "" "OFD-14" "orofaciodigital syndrome" "" "0000129101" "04144" "00163998" "00006" "Familial, autosomal recessive" "" "fetus 22w gestation; facial dysmorphism, no cleft tongue, no lobulated tongue, buccal frenulae, no lingual hamartoma, no cleft palate, no absent epiglottis, bilaterail hand post axial polydactyly, bilateral broad hallux; microcephaly (brain weight 50g, -4 SD); vermian hypoplasia; incomplete corpus callosum agenesis, subarachnoid cysts, no myelinisation defect, no cardiac malformations; right renal hypoplasia; micropenis" "" "" "" "" "" "" "" "" "" "" "" "0000258921" "05109" "00363571" "00000" "Familial, autosomal recessive" "4y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267466" "05109" "00372145" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267467" "05109" "00372146" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000164705" "00163842" "1" "02455" "02455" "2018-04-17 22:51:51" "" "" "SEQ-NG" "DNA;RNA" "blood; skin" "WES, RNA-seq" "0000164788" "00163924" "1" "02455" "02455" "2018-04-23 18:21:43" "" "" "SEQ-NG" "DNA;RNA" "blood; kidney" "" "0000164789" "00163925" "1" "02455" "02455" "2018-04-23 18:36:22" "" "" "SEQ-NG" "DNA" "blood" "" "0000164862" "00163996" "1" "00006" "00006" "2018-05-04 15:30:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000164863" "00163997" "1" "00006" "00006" "2018-05-04 15:49:32" "" "" "SEQ" "DNA" "" "WES" "0000164864" "00163998" "1" "00006" "00006" "2018-05-04 15:55:44" "00006" "2018-05-04 16:00:56" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000291699" "00290531" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291700" "00290532" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305448" "00304319" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305449" "00304320" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000364799" "00363571" "1" "00000" "00006" "2021-04-29 14:27:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000373374" "00372145" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373375" "00372146" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000164862" "C2CD3" "0000164863" "C2CD3" "0000164864" "C2CD3" "0000364799" "C2CD3" "0000373374" "C2CD3" "0000373375" "C2CD3" ## 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 = 123 "{{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}}" "0000249473" "0" "30" "11" "73753106" "73753106" "subst" "0.00260057" "02325" "C2CD3_000001" "g.73753106A>G" "" "" "" "C2CD3(NM_001286577.1):c.5653T>C (p.S1885P), C2CD3(NM_001286577.2):c.5653T>C (p.S1885P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74042061A>G" "" "likely benign" "" "0000266361" "0" "30" "11" "73850653" "73850653" "subst" "0.00364394" "02325" "C2CD3_000008" "g.73850653G>A" "" "" "" "C2CD3(NM_001286577.2):c.704C>T (p.P235L), C2CD3(NM_015531.4):c.704C>T (p.(Pro235Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74139608G>A" "" "likely benign" "" "0000272273" "0" "50" "11" "73814381" "73814381" "subst" "4.87496E-5" "01943" "C2CD3_000007" "g.73814381T>C" "" "" "" "C2CD3(NM_001286577.1):c.2375A>G (p.N792S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74103336T>C" "" "VUS" "" "0000272274" "0" "50" "11" "73814255" "73814255" "subst" "0.000260063" "01943" "C2CD3_000006" "g.73814255C>T" "" "" "" "C2CD3(NM_001286577.1):c.2501G>A (p.C834Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74103210C>T" "" "VUS" "" "0000272275" "0" "30" "11" "73796935" "73796935" "subst" "0.000427347" "01943" "C2CD3_000005" "g.73796935T>C" "" "" "" "C2CD3(NM_001286577.1):c.3642-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74085890T>C" "" "likely benign" "" "0000272276" "0" "10" "11" "73796878" "73796878" "subst" "0.00707605" "01943" "C2CD3_000004" "g.73796878T>C" "" "" "" "C2CD3(NM_001286577.1):c.3695A>G (p.N1232S), C2CD3(NM_001286577.2):c.3695A>G (p.(Asn1232Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74085833T>C" "" "benign" "" "0000272277" "0" "10" "11" "73796760" "73796760" "subst" "0.00161412" "01943" "C2CD3_000003" "g.73796760C>T" "" "" "" "C2CD3(NM_001286577.1):c.3813G>A (p.L1271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74085715C>T" "" "benign" "" "0000272278" "0" "30" "11" "73753191" "73753191" "subst" "4.06075E-6" "01943" "C2CD3_000002" "g.73753191G>A" "" "" "" "C2CD3(NM_001286577.1):c.5568C>T (p.S1856=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74042146G>A" "" "likely benign" "" "0000341979" "0" "30" "11" "73785624" "73785624" "subst" "0" "02327" "C2CD3_000009" "g.73785624C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74074579C>T" "" "likely benign" "" "0000368394" "11" "90" "11" "73834032" "73834032" "subst" "4.07794E-6" "02455" "C2CD3_000011" "g.73834032C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.74122987C>T" "" "pathogenic" "" "0000368395" "21" "90" "11" "73768446" "73768446" "subst" "0" "02455" "C2CD3_000010" "g.73768446C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.74057401C>G" "" "pathogenic" "" "0000368396" "11" "70" "11" "73811607" "73811607" "subst" "0" "02455" "C2CD3_000013" "g.73811607C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.74100562C>T" "" "likely pathogenic" "" "0000368397" "21" "90" "11" "73804863" "73804863" "subst" "4.07844E-6" "02455" "C2CD3_000012" "g.73804863G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.74093818G>A" "" "pathogenic" "" "0000368398" "11" "70" "11" "73879586" "73879586" "subst" "0" "02455" "C2CD3_000015" "g.73879586A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.74168541A>C" "" "likely pathogenic" "" "0000368399" "21" "70" "11" "73760516" "73760516" "subst" "4.06283E-6" "02455" "C2CD3_000014" "g.73760516C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.74049471C>A" "" "pathogenic" "" "0000368474" "21" "90" "11" "73760516" "73760516" "subst" "4.06283E-6" "00006" "C2CD3_000014" "g.73760516C>A" "" "{PMID:Srour 2015:26477546}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74049471C>A" "" "pathogenic (recessive)" "" "0000368475" "11" "90" "11" "73745276" "73745276" "subst" "3.79737E-5" "00006" "C2CD3_000016" "g.73745276G>A" "" "{PMID:Srour 2015:26477546}" "" "NM_001286577.1:c.5929C>T (Arg1977*)" "" "Germline" "yes" "" "0" "" "" "g.74034231G>A" "" "pathogenic (recessive)" "" "0000368476" "3" "90" "11" "73879530" "73879530" "subst" "1.21825E-5" "00006" "C2CD3_000017" "g.73879530G>A" "" "{PMID:Thauvin-Robinet 2014:24997988}, {OMIM615944:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74168485G>A" "" "pathogenic" "" "0000368477" "1" "90" "11" "73806348" "73806348" "subst" "0" "00006" "C2CD3_000018" "g.73806348A>C" "" "{PMID:Thauvin-Robinet 2014:24997988}, {OMIM615944:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.74095303A>C" "" "pathogenic" "" "0000368478" "2" "90" "11" "73796017" "73796017" "subst" "0.000187951" "00006" "C2CD3_000019" "g.73796017T>A" "" "{PMID:Thauvin-Robinet 2014:24997988}, {OMIM615944:0003}" "" "" "" "Germline" "" "" "0" "" "" "g.74084972T>A" "" "pathogenic" "" "0000545700" "0" "50" "11" "73739420" "73739420" "subst" "0.000401753" "01943" "C2CD3_000020" "g.73739420T>C" "" "" "" "C2CD3(NM_001286577.1):c.6833A>G (p.N2278S), C2CD3(XM_005273893.2):c.6836A>G (p.(Asn2279Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74028375T>C" "" "VUS" "" "0000545701" "0" "30" "11" "73739420" "73739420" "subst" "0.000401753" "01804" "C2CD3_000020" "g.73739420T>C" "" "" "" "C2CD3(NM_001286577.1):c.6833A>G (p.N2278S), C2CD3(XM_005273893.2):c.6836A>G (p.(Asn2279Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74028375T>C" "" "likely benign" "" "0000545702" "0" "30" "11" "73744645" "73744645" "subst" "0" "01943" "C2CD3_000021" "g.73744645C>T" "" "" "" "C2CD3(NM_001286577.1):c.6560G>A (p.S2187N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74033600C>T" "" "likely benign" "" "0000545703" "0" "30" "11" "73744693" "73744693" "subst" "1.51575E-5" "01943" "C2CD3_000022" "g.73744693T>G" "" "" "" "C2CD3(NM_001286577.1):c.6512A>C (p.N2171T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74033648T>G" "" "likely benign" "" "0000545704" "0" "30" "11" "73748631" "73748631" "subst" "0" "01804" "C2CD3_000023" "g.73748631T>C" "" "" "" "C2CD3(NM_015531.4):c.5773A>G (p.(Ser1925Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74037586T>C" "" "likely benign" "" "0000545705" "0" "30" "11" "73748736" "73748736" "subst" "8.21382E-6" "01804" "C2CD3_000024" "g.73748736G>T" "" "" "" "C2CD3(NM_015531.4):c.5668C>A (p.(Leu1890Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74037691G>T" "" "likely benign" "" "0000545706" "0" "50" "11" "73753229" "73753229" "subst" "1.21964E-5" "01804" "C2CD3_000025" "g.73753229C>T" "" "" "" "C2CD3(NM_001286577.2):c.5530G>A (p.(Glu1844Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74042184C>T" "" "VUS" "" "0000545708" "0" "30" "11" "73753285" "73753287" "del" "0" "01804" "C2CD3_000026" "g.73753285_73753287del" "" "" "" "C2CD3(NM_015531.4):c.5496-8_5496-6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74042240_74042242del" "" "likely benign" "" "0000545710" "0" "30" "11" "73753286" "73753287" "del" "0" "01804" "C2CD3_000027" "g.73753286_73753287del" "" "" "" "C2CD3(NM_015531.4):c.5496-7_5496-6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74042241_74042242del" "" "likely benign" "" "0000545712" "0" "30" "11" "73753287" "73753287" "del" "0" "01804" "C2CD3_000028" "g.73753287del" "" "" "" "C2CD3(NM_001286577.1):c.5496-6delT, C2CD3(NM_001286577.2):c.5496-6delT, C2CD3(NM_015531.4):c.5496-6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74042242del" "" "likely benign" "" "0000545714" "0" "30" "11" "73785564" "73785564" "subst" "0.00127554" "01804" "C2CD3_000030" "g.73785564G>C" "" "" "" "C2CD3(NM_015531.4):c.4685C>G (p.(Ser1562Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74074519G>C" "" "likely benign" "" "0000545715" "0" "50" "11" "73785606" "73785606" "subst" "0" "01943" "C2CD3_000031" "g.73785606G>C" "" "" "" "C2CD3(NM_001286577.1):c.4643C>G (p.S1548*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74074561G>C" "" "VUS" "" "0000545716" "0" "30" "11" "73796709" "73796709" "subst" "9.35134E-5" "01943" "C2CD3_000032" "g.73796709C>T" "" "" "" "C2CD3(NM_001286577.1):c.3864G>A (p.E1288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74085664C>T" "" "likely benign" "" "0000545718" "0" "30" "11" "73796878" "73796878" "subst" "0.00707605" "01804" "C2CD3_000004" "g.73796878T>C" "" "" "" "C2CD3(NM_001286577.1):c.3695A>G (p.N1232S), C2CD3(NM_001286577.2):c.3695A>G (p.(Asn1232Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74085833T>C" "" "likely benign" "" "0000545719" "0" "30" "11" "73796902" "73796902" "subst" "0.00616852" "01804" "C2CD3_000034" "g.73796902T>C" "" "" "" "C2CD3(NM_015531.4):c.3671A>G (p.(Gln1224Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74085857T>C" "" "likely benign" "" "0000545720" "0" "30" "11" "73809164" "73809164" "subst" "4.06362E-6" "01804" "C2CD3_000035" "g.73809164T>C" "" "" "" "C2CD3(NM_015531.4):c.2869A>G (p.(Asn957Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74098119T>C" "" "likely benign" "" "0000545721" "0" "90" "11" "73809191" "73809191" "subst" "0" "01943" "C2CD3_000036" "g.73809191G>A" "" "" "" "C2CD3(NM_001286577.1):c.2842C>T (p.R948*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74098146G>A" "" "pathogenic" "" "0000545723" "0" "50" "11" "73814223" "73814223" "subst" "0" "01804" "C2CD3_000038" "g.73814223A>C" "" "" "" "C2CD3(NM_015531.4):c.2533T>G (p.(Ser845Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74103178A>C" "" "VUS" "" "0000545724" "0" "50" "11" "73814396" "73814396" "subst" "0.000113745" "01804" "C2CD3_000039" "g.73814396G>A" "" "" "" "C2CD3(NM_001286577.2):c.2360C>T (p.(Ser787Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74103351G>A" "" "VUS" "" "0000545726" "0" "30" "11" "73814438" "73814438" "subst" "0.0196327" "01804" "C2CD3_000041" "g.73814438G>C" "" "" "" "C2CD3(NM_015531.4):c.2318C>G (p.(Pro773Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74103393G>C" "" "likely benign" "" "0000545727" "0" "30" "11" "73843984" "73843984" "subst" "0.000272185" "01943" "C2CD3_000042" "g.73843984G>A" "" "" "" "C2CD3(NM_001286577.1):c.1122C>T (p.D374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74132939G>A" "" "likely benign" "" "0000545728" "0" "30" "11" "73850002" "73850002" "subst" "0.0119948" "01804" "C2CD3_000043" "g.73850002G>C" "" "" "" "C2CD3(NM_001286577.1):c.718C>G (p.(His240Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74138957G>C" "" "likely benign" "" "0000545729" "0" "30" "11" "73850653" "73850653" "subst" "0.00364394" "01804" "C2CD3_000008" "g.73850653G>A" "" "" "" "C2CD3(NM_001286577.2):c.704C>T (p.P235L), C2CD3(NM_015531.4):c.704C>T (p.(Pro235Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74139608G>A" "" "likely benign" "" "0000613702" "0" "30" "11" "73739426" "73739426" "subst" "3.7938E-5" "01943" "C2CD3_000044" "g.73739426A>G" "" "" "" "C2CD3(NM_001286577.1):c.6827T>C (p.V2276A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74028381A>G" "" "likely benign" "" "0000613703" "0" "50" "11" "73744980" "73744980" "subst" "0.00133073" "01943" "C2CD3_000045" "g.73744980A>C" "" "" "" "C2CD3(NM_001286577.1):c.6225T>G (p.N2075K, p.(Asn2075Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74033935A>C" "" "VUS" "" "0000613704" "0" "30" "11" "73745148" "73745148" "subst" "0" "01943" "C2CD3_000046" "g.73745148T>G" "" "" "" "C2CD3(NM_001286577.1):c.6057A>C (p.P2019=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74034103T>G" "" "likely benign" "" "0000613705" "0" "30" "11" "73748678" "73748678" "subst" "0.000179122" "01943" "C2CD3_000047" "g.73748678A>G" "" "" "" "C2CD3(NM_001286577.1):c.5726T>C (p.L1909P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74037633A>G" "" "likely benign" "" "0000613706" "0" "50" "11" "73789643" "73789643" "subst" "0" "02325" "C2CD3_000049" "g.73789643C>T" "" "" "" "C2CD3(NM_001286577.2):c.4120G>A (p.D1374N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74078598C>T" "" "VUS" "" "0000613707" "0" "90" "11" "73796017" "73796017" "subst" "0.000187951" "02325" "C2CD3_000019" "g.73796017T>A" "" "" "" "C2CD3(NM_001286577.2):c.3911-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74084972T>A" "" "pathogenic" "" "0000613708" "0" "50" "11" "73801897" "73801897" "subst" "4.06471E-6" "01943" "C2CD3_000050" "g.73801897A>G" "" "" "" "C2CD3(NM_001286577.1):c.3602T>C (p.V1201A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74090852A>G" "" "VUS" "" "0000613709" "0" "70" "11" "73879623" "73879623" "subst" "0" "02325" "C2CD3_000051" "g.73879623G>A" "" "" "" "C2CD3(NM_001286577.2):c.91C>T (p.P31S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74168578G>A" "" "likely pathogenic" "" "0000622725" "0" "30" "11" "73753106" "73753106" "subst" "0.00260057" "01943" "C2CD3_000001" "g.73753106A>G" "" "" "" "C2CD3(NM_001286577.1):c.5653T>C (p.S1885P), C2CD3(NM_001286577.2):c.5653T>C (p.S1885P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74042061A>G" "" "likely benign" "" "0000622726" "0" "30" "11" "73768459" "73768459" "subst" "0.00310559" "01943" "C2CD3_000048" "g.73768459C>A" "" "" "" "C2CD3(NM_001286577.1):c.5082G>T (p.Q1694H, p.(Gln1694His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74057414C>A" "" "likely benign" "" "0000648388" "1" "30" "11" "73796878" "73796878" "subst" "0.00707605" "03575" "C2CD3_000004" "g.73796878T>C" "67/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "67 heterozygous; {DB:CLININrs140307393}" "Germline" "" "rs140307393" "0" "" "" "g.74085833T>C" "" "likely benign" "" "0000648389" "1" "10" "11" "73811643" "73811643" "subst" "0.00482407" "03575" "C2CD3_000052" "g.73811643C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous; {DB:CLININrs117535770}" "Germline" "" "rs117535770" "0" "" "" "g.74100598C>T" "" "benign" "" "0000656912" "0" "50" "11" "73785559" "73785559" "subst" "1.22513E-5" "02325" "C2CD3_000053" "g.73785559G>A" "" "" "" "C2CD3(NM_001286577.2):c.4690C>T (p.H1564Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74074514G>A" "" "VUS" "" "0000656913" "0" "50" "11" "73834083" "73834083" "subst" "3.6577E-5" "02325" "C2CD3_000054" "g.73834083C>T" "" "" "" "C2CD3(NM_001286577.2):c.1315G>A (p.D439N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74123038C>T" "" "VUS" "" "0000669136" "3" "30" "11" "73796878" "73796878" "subst" "0.00707605" "03575" "C2CD3_000004" "g.73796878T>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs140307393}" "Germline" "" "rs140307393" "0" "" "" "g.74085833T>C" "" "likely benign" "" "0000669137" "3" "10" "11" "73811643" "73811643" "subst" "0.00482407" "03575" "C2CD3_000052" "g.73811643C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs117535770}" "Germline" "" "rs117535770" "0" "" "" "g.74100598C>T" "" "benign" "" "0000679336" "0" "50" "11" "73753265" "73753265" "subst" "0" "01943" "C2CD3_000055" "g.73753265T>C" "" "" "" "C2CD3(NM_001286577.1):c.5496-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679337" "0" "10" "11" "73753284" "73753287" "del" "0" "02330" "C2CD3_000056" "g.73753284_73753287del" "" "" "" "C2CD3(NM_001286577.1):c.5496-9_5496-6delTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000679338" "0" "50" "11" "73820187" "73820187" "del" "0" "01943" "C2CD3_000057" "g.73820187del" "" "" "" "C2CD3(NM_001286577.1):c.1855delC (p.Q619Sfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691193" "0" "10" "11" "73753287" "73753287" "del" "0" "01943" "C2CD3_000028" "g.73753287del" "" "" "" "C2CD3(NM_001286577.1):c.5496-6delT, C2CD3(NM_001286577.2):c.5496-6delT, C2CD3(NM_015531.4):c.5496-6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723708" "0" "30" "11" "73768459" "73768459" "subst" "0.00310559" "02326" "C2CD3_000048" "g.73768459C>A" "" "" "" "C2CD3(NM_001286577.1):c.5082G>T (p.Q1694H, p.(Gln1694His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723709" "0" "30" "11" "73844611" "73844611" "subst" "9.37146E-5" "01943" "C2CD3_000058" "g.73844611G>C" "" "" "" "C2CD3(NM_001286577.1):c.956-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723710" "0" "90" "11" "73850838" "73850838" "subst" "2.03295E-5" "02325" "C2CD3_000059" "g.73850838G>T" "" "" "" "C2CD3(NM_001286577.1):c.519C>A (p.Y173*), C2CD3(NM_015531.6):c.519C>A (p.Y173*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000765706" "21" "90" "11" "73760516" "73760516" "subst" "4.06283E-6" "00000" "C2CD3_000014" "g.73760516C>A" "" "{PMID:Srour 2015:26477546}" "" "" "" "Germline" "" "" "0" "" "" "g.74049471C>A" "" "pathogenic (recessive)" "" "0000765741" "11" "90" "11" "73745276" "73745276" "subst" "3.79737E-5" "00000" "C2CD3_000016" "g.73745276G>A" "" "{PMID:Srour 2015:26477546}" "" "NM_001286577.1:c.5929C>T (Arg1977*)" "" "Germline" "" "" "0" "" "" "g.74034231G>A" "" "pathogenic (recessive)" "" "0000783354" "1" "90" "11" "73785297" "73785297" "subst" "0" "00000" "C2CD3_000061" "g.73785297C>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001286577.1:c.4951+1G>T" "" "Germline" "" "" "0" "" "" "g.74074252C>A" "" "pathogenic" "" "0000783355" "3" "90" "11" "73879530" "73879530" "subst" "1.21825E-5" "00000" "C2CD3_000017" "g.73879530G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001286577.1:c.184C>T" "" "Germline" "" "" "0" "" "" "g.74168485G>A" "" "pathogenic" "" "0000783615" "2" "90" "11" "73760476" "73760476" "subst" "1.62506E-5" "00000" "C2CD3_000060" "g.73760476C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001286577.1:c.5267G>A" "" "Germline" "" "" "0" "" "" "g.74049431C>T" "" "pathogenic" "" "0000805395" "0" "30" "11" "73753224" "73753224" "subst" "2.03107E-5" "01943" "C2CD3_000062" "g.73753224C>T" "" "" "" "C2CD3(NM_001286577.1):c.5535G>A (p.E1845=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805396" "0" "30" "11" "73753287" "73753287" "dup" "0" "02326" "C2CD3_000063" "g.73753287dup" "" "" "" "C2CD3(NM_001286577.1):c.5496-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805397" "0" "50" "11" "73789732" "73789732" "subst" "0.000201937" "01943" "C2CD3_000064" "g.73789732G>A" "" "" "" "C2CD3(NM_001286577.1):c.4031C>T (p.P1344L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805398" "0" "30" "11" "73814412" "73814412" "subst" "0.000715029" "02326" "C2CD3_000065" "g.73814412C>T" "" "" "" "C2CD3(NM_001286577.1):c.2344G>A (p.(Val782Ile), p.V782I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805399" "0" "50" "11" "73814671" "73814671" "subst" "8.40513E-6" "01943" "C2CD3_000066" "g.73814671C>G" "" "" "" "C2CD3(NM_001286577.1):c.2086-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805400" "0" "30" "11" "73814689" "73814689" "subst" "0.00334934" "02326" "C2CD3_000067" "g.73814689G>A" "" "" "" "C2CD3(NM_001286577.1):c.2086-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805401" "0" "30" "11" "73820166" "73820166" "subst" "0" "01943" "C2CD3_000068" "g.73820166T>C" "" "" "" "C2CD3(NM_001286577.1):c.1875A>G (p.P625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805402" "0" "30" "11" "73834147" "73834147" "subst" "0.000321099" "02326" "C2CD3_000069" "g.73834147C>A" "" "" "" "C2CD3(NM_001286577.1):c.1251G>T (p.G417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805403" "0" "50" "11" "73879384" "73879384" "subst" "6.11611E-5" "01943" "C2CD3_000070" "g.73879384C>T" "" "" "" "C2CD3(NM_001286577.1):c.325+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853175" "0" "50" "11" "73748676" "73748676" "subst" "0.000179121" "01943" "C2CD3_000072" "g.73748676G>C" "" "" "" "C2CD3(NM_001286577.1):c.5728C>G (p.P1910A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853176" "0" "10" "11" "73753287" "73753287" "del" "0" "02325" "C2CD3_000028" "g.73753287del" "" "" "" "C2CD3(NM_001286577.1):c.5496-6delT, C2CD3(NM_001286577.2):c.5496-6delT, C2CD3(NM_015531.4):c.5496-6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853177" "0" "50" "11" "73796007" "73796007" "subst" "0" "01943" "C2CD3_000074" "g.73796007T>G" "" "" "" "C2CD3(NM_001286577.1):c.3919A>C (p.I1307L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853178" "0" "30" "11" "73829418" "73829418" "subst" "2.0384E-5" "01943" "C2CD3_000078" "g.73829418T>C" "" "" "" "C2CD3(NM_001286577.1):c.1375A>G (p.T459A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862700" "0" "30" "11" "73744494" "73744494" "subst" "0.00232361" "02326" "C2CD3_000071" "g.73744494T>A" "" "" "" "C2CD3(NM_001286577.1):c.6711A>T (p.R2237S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862701" "0" "30" "11" "73753253" "73753253" "subst" "0" "01943" "C2CD3_000073" "g.73753253T>C" "" "" "" "C2CD3(NM_001286577.1):c.5506A>G (p.T1836A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862702" "0" "30" "11" "73803554" "73803554" "subst" "4.47169E-5" "01943" "C2CD3_000075" "g.73803554T>C" "" "" "" "C2CD3(NM_001286577.1):c.3424A>G (p.T1142A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862703" "0" "30" "11" "73814194" "73814194" "subst" "0.000636319" "01943" "C2CD3_000076" "g.73814194C>T" "" "" "" "C2CD3(NM_001286577.1):c.2562G>A (p.P854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862704" "0" "50" "11" "73817537" "73817537" "subst" "0.000622252" "01943" "C2CD3_000077" "g.73817537G>T" "" "" "" "C2CD3(NM_001286577.1):c.1964C>A (p.P655Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862705" "0" "50" "11" "73879652" "73879652" "subst" "0.00104574" "01943" "C2CD3_000079" "g.73879652C>T" "" "" "" "C2CD3(NM_001286577.1):c.62G>A (p.S21N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890173" "0" "30" "11" "73744969" "73744969" "subst" "0.00387684" "02326" "C2CD3_000080" "g.73744969G>A" "" "" "" "C2CD3(NM_001286577.1):c.6236C>T (p.T2079M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890174" "0" "30" "11" "73753287" "73753287" "del" "0" "02326" "C2CD3_000028" "g.73753287del" "" "" "" "C2CD3(NM_001286577.1):c.5496-6delT, C2CD3(NM_001286577.2):c.5496-6delT, C2CD3(NM_015531.4):c.5496-6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890175" "0" "90" "11" "73820180" "73820180" "subst" "1.39718E-5" "02326" "C2CD3_000081" "g.73820180G>A" "" "" "" "C2CD3(NM_001286577.1):c.1861C>T (p.R621*), C2CD3(NM_001286577.2):c.1861C>T (p.(Arg621*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925503" "0" "30" "11" "73814404" "73814404" "subst" "0.00189725" "02326" "C2CD3_000082" "g.73814404C>T" "" "" "" "C2CD3(NM_001286577.1):c.2352G>A (p.T784=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929978" "0" "50" "11" "73785327" "73785327" "subst" "4.07256E-6" "02329" "C2CD3_000083" "g.73785327A>G" "" "" "" "C2CD3(NM_001286577.2):c.4922T>C (p.V1641A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929979" "0" "30" "11" "73809256" "73809256" "subst" "0.00045945" "02325" "C2CD3_000084" "g.73809256A>G" "" "" "" "C2CD3(NM_015531.6):c.2777T>C (p.V926A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929980" "0" "30" "11" "73849774" "73849774" "subst" "0.000487928" "02325" "C2CD3_000085" "g.73849774G>C" "" "" "" "C2CD3(NM_015531.6):c.946C>G (p.L316V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949798" "0" "30" "11" "73744862" "73744862" "subst" "0.00794263" "01804" "C2CD3_000086" "g.73744862G>A" "" "" "" "C2CD3(NM_001286577.1):c.6343C>T (p.(Pro2115Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949799" "0" "30" "11" "73745083" "73745083" "subst" "0.00941581" "01804" "C2CD3_000087" "g.73745083G>A" "" "" "" "C2CD3(NM_001286577.1):c.6122C>T (p.(Ala2041Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949800" "0" "30" "11" "73768459" "73768459" "subst" "0.00310559" "01804" "C2CD3_000048" "g.73768459C>A" "" "" "" "C2CD3(NM_001286577.1):c.5082G>T (p.Q1694H, p.(Gln1694His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949801" "0" "30" "11" "73811643" "73811643" "subst" "0.00482407" "01804" "C2CD3_000052" "g.73811643C>T" "" "" "" "C2CD3(NM_001286577.1):c.2659G>A (p.(Val887Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966575" "0" "30" "11" "73744980" "73744980" "subst" "0.00133073" "01804" "C2CD3_000045" "g.73744980A>C" "" "" "" "C2CD3(NM_001286577.1):c.6225T>G (p.N2075K, p.(Asn2075Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966579" "0" "30" "11" "73753287" "73753287" "dup" "0" "02329" "C2CD3_000063" "g.73753287dup" "" "" "" "C2CD3(NM_001286577.1):c.5496-6dupT, C2CD3(NM_001286577.2):c.5496-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966581" "0" "30" "11" "73768488" "73768488" "subst" "0.000755889" "01804" "C2CD3_000089" "g.73768488T>C" "" "" "" "C2CD3(NM_001286577.1):c.5053A>G (p.(Thr1685Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966583" "0" "30" "11" "73814412" "73814412" "subst" "0.000715029" "01804" "C2CD3_000065" "g.73814412C>T" "" "" "" "C2CD3(NM_001286577.1):c.2344G>A (p.(Val782Ile), p.V782I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966584" "0" "90" "11" "73850838" "73850838" "subst" "2.03295E-5" "02326" "C2CD3_000059" "g.73850838G>T" "" "" "" "C2CD3(NM_001286577.1):c.519C>A (p.Y173*), C2CD3(NM_015531.6):c.519C>A (p.Y173*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979880" "0" "50" "11" "73811639" "73811639" "subst" "0.000199155" "01804" "C2CD3_000090" "g.73811639C>T" "" "" "" "C2CD3(NM_001286577.2):c.2663G>A (p.(Arg888Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979881" "0" "50" "11" "73820180" "73820180" "subst" "1.39718E-5" "01804" "C2CD3_000081" "g.73820180G>A" "" "" "" "C2CD3(NM_001286577.1):c.1861C>T (p.R621*), C2CD3(NM_001286577.2):c.1861C>T (p.(Arg621*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999464" "0" "50" "11" "73768586" "73768586" "subst" "0" "01804" "C2CD3_000091" "g.73768586C>T" "" "" "" "C2CD3(NM_001286577.1):c.4955G>A (p.(Ser1652Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999465" "0" "50" "11" "73817411" "73817411" "subst" "6.10232E-5" "01804" "C2CD3_000092" "g.73817411C>T" "" "" "" "C2CD3(NM_001286577.1):c.2085+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038774" "0" "50" "11" "73785591" "73785591" "subst" "1.64003E-5" "02325" "C2CD3_000093" "g.73785591C>T" "" "" "" "C2CD3(NM_015531.6):c.4658G>A (p.R1553Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038775" "0" "90" "11" "73796017" "73796017" "subst" "0.000187951" "01804" "C2CD3_000019" "g.73796017T>A" "" "" "" "C2CD3(NM_001286577.2):c.3911-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038776" "0" "50" "11" "73803613" "73803613" "subst" "8.15056E-6" "01804" "C2CD3_000094" "g.73803613C>A" "" "" "" "C2CD3(NM_001286577.2):c.3365G>T (p.(Arg1122Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038777" "0" "50" "11" "73809128" "73809128" "del" "0" "01804" "C2CD3_000095" "g.73809128del" "" "" "" "C2CD3(NM_001286577.2):c.2905del (p.(Glu969Lysfs*33))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038778" "0" "50" "11" "73811640" "73811640" "subst" "0" "01804" "C2CD3_000096" "g.73811640G>A" "" "" "" "C2CD3(NM_001286577.2):c.2662C>T (p.(Arg888Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038779" "0" "50" "11" "73834139" "73834139" "subst" "0.00019913" "01804" "C2CD3_000097" "g.73834139G>A" "" "" "" "C2CD3(NM_001286577.2):c.1259C>T (p.(Ser420Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038780" "0" "50" "11" "73850880" "73850880" "subst" "2.85228E-5" "01804" "C2CD3_000098" "g.73850880G>C" "" "" "" "C2CD3(NM_001286577.2):c.484-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038781" "0" "50" "11" "73872553" "73872553" "subst" "0" "01804" "C2CD3_000099" "g.73872553G>C" "" "" "" "C2CD3(NM_001286577.2):c.374C>G (p.(Pro125Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053999" "0" "30" "11" "73785652" "73785652" "subst" "0" "01804" "C2CD3_000100" "g.73785652G>C" "" "" "" "C2CD3(NM_001286577.2):c.4604-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054000" "0" "50" "11" "73789277" "73789277" "subst" "0" "01804" "C2CD3_000101" "g.73789277G>A" "" "" "" "C2CD3(NM_001286577.2):c.4486C>T (p.(Arg1496*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054001" "0" "50" "11" "73915405" "73915405" "subst" "1.63208E-5" "01804" "C2CD3_000102" "g.73915405G>A" "" "" "" "PPME1(NM_016147.3):c.203G>A (p.(Arg68Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065545" "0" "50" "11" "73811597" "73811597" "subst" "0" "01804" "C2CD3_000103" "g.73811597G>T" "" "" "" "C2CD3(NM_001286577.2):c.2705C>A (p.(Pro902His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065546" "0" "50" "11" "73844552" "73844552" "subst" "2.03141E-5" "01804" "C2CD3_000104" "g.73844552T>C" "" "" "" "C2CD3(NM_001286577.2):c.1006A>G (p.(Met336Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes C2CD3 ## Count = 123 "{{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}}" "0000249473" "00003665" "30" "5653" "0" "5653" "0" "c.5653T>C" "r.(?)" "p.(Ser1885Pro)" "" "0000266361" "00003665" "30" "704" "0" "704" "0" "c.704C>T" "r.(?)" "p.(Pro235Leu)" "" "0000272273" "00003665" "50" "2375" "0" "2375" "0" "c.2375A>G" "r.(?)" "p.(Asn792Ser)" "" "0000272274" "00003665" "50" "2501" "0" "2501" "0" "c.2501G>A" "r.(?)" "p.(Cys834Tyr)" "" "0000272275" "00003665" "30" "3642" "-4" "3642" "-4" "c.3642-4A>G" "r.spl?" "p.?" "" "0000272276" "00003665" "10" "3695" "0" "3695" "0" "c.3695A>G" "r.(?)" "p.(Asn1232Ser)" "" "0000272277" "00003665" "10" "3813" "0" "3813" "0" "c.3813G>A" "r.(?)" "p.(Leu1271=)" "" "0000272278" "00003665" "30" "5568" "0" "5568" "0" "c.5568C>T" "r.(?)" "p.(Ser1856=)" "" "0000341979" "00003665" "30" "4625" "0" "4625" "0" "c.4625G>A" "r.(?)" "p.(Arg1542Gln)" "" "0000368394" "00003665" "90" "1365" "1" "1365" "1" "c.1365+1G>A" "r.1217_1365del" "p.Ser406Argfs*23" "8i" "0000368395" "00003665" "90" "5090" "5" "5090" "5" "c.5090+5G>C" "r.4951_5090del" "p.Ser1652Tyrfs*26" "25i" "0000368396" "00003665" "70" "2695" "0" "2695" "0" "c.2695G>A" "r.(?)" "p.(Val899Met)" "15" "0000368397" "00003665" "90" "3342" "0" "3342" "0" "c.3342C>T" "r.3160_3344del" "p.Gly1054Aspfs*7" "18" "0000368398" "00003665" "70" "128" "0" "128" "0" "c.128T>G" "r.(?)" "p.(Leu43Arg)" "2" "0000368399" "00003665" "70" "5227" "0" "5227" "0" "c.5227G>T" "r.(?)" "p.(Gly1743Cys)" "27" "0000368474" "00003665" "90" "5227" "0" "5227" "0" "c.5227G>T" "r.(?)" "p.(Gly1743Cys)" "27" "0000368475" "00003665" "90" "6259" "0" "6259" "0" "c.*367C>T" "r.(=)" "p.(=)" "" "0000368476" "00003665" "90" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62*)" "2" "0000368477" "00003665" "90" "3085" "0" "3085" "0" "c.3085T>G" "r.(?)" "p.(Cys1029Gly)" "17" "0000368478" "00003665" "90" "3911" "-2" "3911" "-2" "c.3911-2A>T" "r.3911_3914del" "p.Ala1304Valfs*3" "21i" "0000545700" "00003665" "50" "12115" "0" "12115" "0" "c.*6223A>G" "r.(=)" "p.(=)" "" "0000545701" "00003665" "30" "12115" "0" "12115" "0" "c.*6223A>G" "r.(=)" "p.(=)" "" "0000545702" "00003665" "30" "6890" "0" "6890" "0" "c.*998G>A" "r.(=)" "p.(=)" "" "0000545703" "00003665" "30" "6842" "0" "6842" "0" "c.*950A>C" "r.(=)" "p.(=)" "" "0000545704" "00003665" "30" "5773" "0" "5773" "0" "c.5773A>G" "r.(?)" "p.(Ser1925Gly)" "" "0000545705" "00003665" "30" "5668" "0" "5668" "0" "c.5668C>A" "r.(?)" "p.(Leu1890Met)" "" "0000545706" "00003665" "50" "5530" "0" "5530" "0" "c.5530G>A" "r.(?)" "p.(Glu1844Lys)" "" "0000545708" "00003665" "30" "5496" "-8" "5496" "-6" "c.5496-8_5496-6del" "r.(=)" "p.(=)" "" "0000545710" "00003665" "30" "5496" "-7" "5496" "-6" "c.5496-7_5496-6del" "r.(=)" "p.(=)" "" "0000545712" "00003665" "30" "5496" "-6" "5496" "-6" "c.5496-6del" "r.(=)" "p.(=)" "" "0000545714" "00003665" "30" "4685" "0" "4685" "0" "c.4685C>G" "r.(?)" "p.(Ser1562Cys)" "" "0000545715" "00003665" "50" "4643" "0" "4643" "0" "c.4643C>G" "r.(?)" "p.(Ser1548Ter)" "" "0000545716" "00003665" "30" "3864" "0" "3864" "0" "c.3864G>A" "r.(?)" "p.(Glu1288=)" "" "0000545718" "00003665" "30" "3695" "0" "3695" "0" "c.3695A>G" "r.(?)" "p.(Asn1232Ser)" "" "0000545719" "00003665" "30" "3671" "0" "3671" "0" "c.3671A>G" "r.(?)" "p.(Gln1224Arg)" "" "0000545720" "00003665" "30" "2869" "0" "2869" "0" "c.2869A>G" "r.(?)" "p.(Asn957Asp)" "" "0000545721" "00003665" "90" "2842" "0" "2842" "0" "c.2842C>T" "r.(?)" "p.(Arg948Ter)" "" "0000545723" "00003665" "50" "2533" "0" "2533" "0" "c.2533T>G" "r.(?)" "p.(Ser845Ala)" "" "0000545724" "00003665" "50" "2360" "0" "2360" "0" "c.2360C>T" "r.(?)" "p.(Ser787Phe)" "" "0000545726" "00003665" "30" "2318" "0" "2318" "0" "c.2318C>G" "r.(?)" "p.(Pro773Arg)" "" "0000545727" "00003665" "30" "1122" "0" "1122" "0" "c.1122C>T" "r.(?)" "p.(Asp374=)" "" "0000545728" "00003665" "30" "718" "0" "718" "0" "c.718C>G" "r.(?)" "p.(His240Asp)" "" "0000545729" "00003665" "30" "704" "0" "704" "0" "c.704C>T" "r.(?)" "p.(Pro235Leu)" "" "0000613702" "00003665" "30" "12109" "0" "12109" "0" "c.*6217T>C" "r.(=)" "p.(=)" "" "0000613703" "00003665" "50" "6555" "0" "6555" "0" "c.*663T>G" "r.(=)" "p.(=)" "" "0000613704" "00003665" "30" "6387" "0" "6387" "0" "c.*495A>C" "r.(=)" "p.(=)" "" "0000613705" "00003665" "30" "5726" "0" "5726" "0" "c.5726T>C" "r.(?)" "p.(Leu1909Pro)" "" "0000613706" "00003665" "50" "4120" "0" "4120" "0" "c.4120G>A" "r.(?)" "p.(Asp1374Asn)" "" "0000613707" "00003665" "90" "3911" "-2" "3911" "-2" "c.3911-2A>T" "r.spl?" "p.?" "" "0000613708" "00003665" "50" "3602" "0" "3602" "0" "c.3602T>C" "r.(?)" "p.(Val1201Ala)" "" "0000613709" "00003665" "70" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Pro31Ser)" "" "0000622725" "00003665" "30" "5653" "0" "5653" "0" "c.5653T>C" "r.(?)" "p.(Ser1885Pro)" "" "0000622726" "00003665" "30" "5082" "0" "5082" "0" "c.5082G>T" "r.(?)" "p.(Gln1694His)" "" "0000648388" "00003665" "30" "3695" "0" "3695" "0" "c.3695A>G" "r.(?)" "p.(Asn1232Ser)" "" "0000648389" "00003665" "10" "2659" "0" "2659" "0" "c.2659G>A" "r.(?)" "p.(Val887Met)" "" "0000656912" "00003665" "50" "4690" "0" "4690" "0" "c.4690C>T" "r.(?)" "p.(His1564Tyr)" "" "0000656913" "00003665" "50" "1315" "0" "1315" "0" "c.1315G>A" "r.(?)" "p.(Asp439Asn)" "" "0000669136" "00003665" "30" "3695" "0" "3695" "0" "c.3695A>G" "r.(?)" "p.(Asn1232Ser)" "" "0000669137" "00003665" "10" "2659" "0" "2659" "0" "c.2659G>A" "r.(?)" "p.(Val887Met)" "" "0000679336" "00003665" "50" "5496" "-2" "5496" "-2" "c.5496-2A>G" "r.spl?" "p.?" "" "0000679337" "00003665" "10" "5496" "-9" "5496" "-6" "c.5496-9_5496-6del" "r.(=)" "p.(=)" "" "0000679338" "00003665" "50" "1855" "0" "1855" "0" "c.1855del" "r.(?)" "p.(Gln619SerfsTer14)" "" "0000691193" "00003665" "10" "5496" "-6" "5496" "-6" "c.5496-6del" "r.(=)" "p.(=)" "" "0000723708" "00003665" "30" "5082" "0" "5082" "0" "c.5082G>T" "r.(?)" "p.(Gln1694His)" "" "0000723709" "00003665" "30" "956" "-9" "956" "-9" "c.956-9C>G" "r.(=)" "p.(=)" "" "0000723710" "00003665" "90" "519" "0" "519" "0" "c.519C>A" "r.(?)" "p.(Tyr173*)" "" "0000765706" "00003665" "90" "5227" "0" "5227" "0" "c.5227G>T" "r.(?)" "p.(Gly1743Cys)" "" "0000765741" "00003665" "90" "6259" "0" "6259" "0" "c.*367C>T" "r.(?)" "p.(=)" "" "0000783354" "00003665" "90" "4951" "1" "4951" "1" "c.4951+1G>T" "r.spl?" "p.?" "" "0000783355" "00003665" "90" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62*)" "" "0000783615" "00003665" "90" "5267" "0" "5267" "0" "c.5267G>A" "r.(?)" "p.(Gly1756Glu)" "" "0000805395" "00003665" "30" "5535" "0" "5535" "0" "c.5535G>A" "r.(?)" "p.(Glu1845=)" "" "0000805396" "00003665" "30" "5496" "-6" "5496" "-6" "c.5496-6dup" "r.(=)" "p.(=)" "" "0000805397" "00003665" "50" "4031" "0" "4031" "0" "c.4031C>T" "r.(?)" "p.(Pro1344Leu)" "" "0000805398" "00003665" "30" "2344" "0" "2344" "0" "c.2344G>A" "r.(?)" "p.(Val782Ile)" "" "0000805399" "00003665" "50" "2086" "-1" "2086" "-1" "c.2086-1G>C" "r.spl?" "p.?" "" "0000805400" "00003665" "30" "2086" "-19" "2086" "-19" "c.2086-19C>T" "r.(=)" "p.(=)" "" "0000805401" "00003665" "30" "1875" "0" "1875" "0" "c.1875A>G" "r.(?)" "p.(Pro625=)" "" "0000805402" "00003665" "30" "1251" "0" "1251" "0" "c.1251G>T" "r.(?)" "p.(Gly417=)" "" "0000805403" "00003665" "50" "325" "5" "325" "5" "c.325+5G>A" "r.spl?" "p.?" "" "0000853175" "00003665" "50" "5728" "0" "5728" "0" "c.5728C>G" "r.(?)" "p.(Pro1910Ala)" "" "0000853176" "00003665" "10" "5496" "-6" "5496" "-6" "c.5496-6del" "r.(=)" "p.(=)" "" "0000853177" "00003665" "50" "3919" "0" "3919" "0" "c.3919A>C" "r.(?)" "p.(Ile1307Leu)" "" "0000853178" "00003665" "30" "1375" "0" "1375" "0" "c.1375A>G" "r.(?)" "p.(Thr459Ala)" "" "0000862700" "00003665" "30" "7041" "0" "7041" "0" "c.*1149A>T" "r.(=)" "p.(=)" "" "0000862701" "00003665" "30" "5506" "0" "5506" "0" "c.5506A>G" "r.(?)" "p.(Thr1836Ala)" "" "0000862702" "00003665" "30" "3424" "0" "3424" "0" "c.3424A>G" "r.(?)" "p.(Thr1142Ala)" "" "0000862703" "00003665" "30" "2562" "0" "2562" "0" "c.2562G>A" "r.(?)" "p.(Pro854=)" "" "0000862704" "00003665" "50" "1964" "0" "1964" "0" "c.1964C>A" "r.(?)" "p.(Pro655Gln)" "" "0000862705" "00003665" "50" "62" "0" "62" "0" "c.62G>A" "r.(?)" "p.(Ser21Asn)" "" "0000890173" "00003665" "30" "6566" "0" "6566" "0" "c.*674C>T" "r.(=)" "p.(=)" "" "0000890174" "00003665" "30" "5496" "-6" "5496" "-6" "c.5496-6del" "r.(=)" "p.(=)" "" "0000890175" "00003665" "90" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Arg621*)" "" "0000925503" "00003665" "30" "2352" "0" "2352" "0" "c.2352G>A" "r.(?)" "p.(Thr784=)" "" "0000929978" "00003665" "50" "4922" "0" "4922" "0" "c.4922T>C" "r.(?)" "p.(Val1641Ala)" "" "0000929979" "00003665" "30" "2777" "0" "2777" "0" "c.2777T>C" "r.(?)" "p.(Val926Ala)" "" "0000929980" "00003665" "30" "946" "0" "946" "0" "c.946C>G" "r.(?)" "p.(Leu316Val)" "" "0000949798" "00003665" "30" "6673" "0" "6673" "0" "c.*781C>T" "r.(=)" "p.(=)" "" "0000949799" "00003665" "30" "6452" "0" "6452" "0" "c.*560C>T" "r.(=)" "p.(=)" "" "0000949800" "00003665" "30" "5082" "0" "5082" "0" "c.5082G>T" "r.(?)" "p.(Gln1694His)" "" "0000949801" "00003665" "30" "2659" "0" "2659" "0" "c.2659G>A" "r.(?)" "p.(Val887Met)" "" "0000966575" "00003665" "30" "6555" "0" "6555" "0" "c.*663T>G" "r.(=)" "p.(=)" "" "0000966579" "00003665" "30" "5496" "-6" "5496" "-6" "c.5496-6dup" "r.(=)" "p.(=)" "" "0000966581" "00003665" "30" "5053" "0" "5053" "0" "c.5053A>G" "r.(?)" "p.(Thr1685Ala)" "" "0000966583" "00003665" "30" "2344" "0" "2344" "0" "c.2344G>A" "r.(?)" "p.(Val782Ile)" "" "0000966584" "00003665" "90" "519" "0" "519" "0" "c.519C>A" "r.(?)" "p.(Tyr173*)" "" "0000979880" "00003665" "50" "2663" "0" "2663" "0" "c.2663G>A" "r.(?)" "p.(Arg888Gln)" "" "0000979881" "00003665" "50" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Arg621*)" "" "0000999464" "00003665" "50" "4955" "0" "4955" "0" "c.4955G>A" "r.(?)" "p.(Ser1652Asn)" "" "0000999465" "00003665" "50" "2085" "5" "2085" "5" "c.2085+5G>A" "r.spl?" "p.?" "" "0001038774" "00003665" "50" "4658" "0" "4658" "0" "c.4658G>A" "r.(?)" "p.(Arg1553Gln)" "" "0001038775" "00003665" "90" "3911" "-2" "3911" "-2" "c.3911-2A>T" "r.spl?" "p.?" "" "0001038776" "00003665" "50" "3365" "0" "3365" "0" "c.3365G>T" "r.(?)" "p.(Arg1122Ile)" "" "0001038777" "00003665" "50" "2905" "0" "2905" "0" "c.2905del" "r.(?)" "p.(Glu969Lysfs*33)" "" "0001038778" "00003665" "50" "2662" "0" "2662" "0" "c.2662C>T" "r.(?)" "p.(Arg888Trp)" "" "0001038779" "00003665" "50" "1259" "0" "1259" "0" "c.1259C>T" "r.(?)" "p.(Ser420Phe)" "" "0001038780" "00003665" "50" "484" "-7" "484" "-7" "c.484-7C>G" "r.(=)" "p.(=)" "" "0001038781" "00003665" "50" "374" "0" "374" "0" "c.374C>G" "r.(?)" "p.(Pro125Arg)" "" "0001053999" "00003665" "30" "4604" "-7" "4604" "-7" "c.4604-7C>G" "r.(=)" "p.(=)" "" "0001054000" "00003665" "50" "4486" "0" "4486" "0" "c.4486C>T" "r.(?)" "p.(Arg1496*)" "" "0001054001" "00003665" "50" "-33568" "0" "-33568" "0" "c.-33568C>T" "r.(?)" "p.(=)" "" "0001065545" "00003665" "50" "2705" "0" "2705" "0" "c.2705C>A" "r.(?)" "p.(Pro902His)" "" "0001065546" "00003665" "50" "1006" "0" "1006" "0" "c.1006A>G" "r.(?)" "p.(Met336Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000164705" "0000368394" "0000164705" "0000368395" "0000164788" "0000368396" "0000164788" "0000368397" "0000164789" "0000368398" "0000164789" "0000368399" "0000164862" "0000368474" "0000164862" "0000368475" "0000164863" "0000368476" "0000164864" "0000368477" "0000164864" "0000368478" "0000291699" "0000648388" "0000291700" "0000648389" "0000305448" "0000669136" "0000305449" "0000669137" "0000364799" "0000765706" "0000364799" "0000765741" "0000373374" "0000783354" "0000373374" "0000783615" "0000373375" "0000783355"