### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TELO2) # 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}}" "TELO2" "TEL2, telomere maintenance 2, homolog (S. cerevisiae)" "16" "p13.3" "unknown" "NC_000016.9" "UD_132438289586" "" "http://www.LOVD.nl/TELO2" "" "1" "29099" "9894" "611140" "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/TELO2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-28 22:47:45" "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}}" "00020970" "TELO2" "TEL2, telomere maintenance 2, homolog (S. cerevisiae)" "001" "NM_016111.3" "" "NP_057195.2" "" "" "" "-291" "3037" "2514" "1543352" "1560460" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "06294" "YHFS" "You-Hoover-Fong syndrome" "AR" "616954" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TELO2" "06294" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00065298" "" "" "" "3" "" "01604" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "2-generation family, 3 affecteds (brother/her), sister twins and brother, unaffected heterozygous carrier parents" "M" "no" "United States" ">17y" "0" "" "" "" "27132593-Fam1PatII2" "00065299" "" "" "00065298" "1" "" "01604" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "twin sister" "F" "" "United States" ">17y" "0" "" "" "" "27132593-Fam1PatII3" "00065300" "" "" "00065298" "1" "" "01604" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "" "M" "no" "United States" ">10y" "0" "" "" "" "27132593-Fam1PatII4" "00065301" "" "" "" "1" "" "01604" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United States" ">06y" "0" "" "" "" "27132593-Fam2PatII2" "00065302" "" "" "" "1" "" "01604" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United States" ">17y" "0" "" "" "" "27132593-Fam3PatII1" "00065303" "" "" "" "1" "" "01604" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United States" ">09y" "0" "" "" "" "27132593-Fam4patII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00065298" "00139" "00065299" "00139" "00065300" "00139" "00065301" "00139" "00065302" "00139" "00065303" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 06294 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000051413" "00139" "00065298" "01604" "Familial, autosomal recessive" "" "intellectual disability (HP:0001249), microcephaly (HP:0000252), hearing loss (HP:0000365), cortical visual impairment (HP:0100704), no oral frenuli/ankyloglossia (-HP:0010296), no cleft palate (-HP:0000175), congenital heart disease (HP:0030680), no kyphoscoliosis/scoliosis (-HP:0002751), brachydactyly (HP:0001156) & clinodactyly (HP:0030084), 4/5 toe syndactyl (HP:0004692), abnormal balance (HP:0002141), no abnormal sleep pattern (-HP:?), laughter outbursts (HP:0000749), movement disorder (HP:0100022), no seizures (-HP:0001250), no rotatory nystagmus (-HP:0001583); severe intellectual disability (HP:0010864); global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "0000051414" "00139" "00065299" "01604" "Familial, autosomal recessive" "" "intellectual disability (HP:0001249), microcephaly (HP:0000252), hearing loss (HP:0000365), cortical visual impairment (HP:0100704), oral frenuli/ankyloglossia (HP:0010296), cleft palate (HP:0000175), congenital heart disease (HP:0030680), kyphoscoliosis/scoliosis (HP:0002751), brachydactyly (HP:0001156) & clinodactyly (HP:0030084), 4/5 toe syndactyl (HP:0004692), abnormal balance (HP:0002141), no abnormal sleep pattern (-HP:?), no laughter outbursts (-HP:0000749), movement disorder (HP:0100022), no seizures (-HP:0001250), rotatory nystagmus (HP:0001583); severe intellectual disability (HP:0010864); global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "0000051415" "00139" "00065300" "01604" "Familial, autosomal recessive" "" "intellectual disability (HP:0001249), microcephaly (HP:0000252), hearing loss (HP:0000365), cortical visual impairment (HP:0100704), oral frenuli/ankyloglossia (HP:0010296), no cleft palate (-HP:0000175), congenital heart disease (HP:0030680), no kyphoscoliosis/scoliosis (-HP:0002751), brachydactyly (HP:0001156) & clinodactyly (HP:0030084), 4/5 toe syndactyl (HP:0004692), abnormal balance (HP:0002141), no abnormal sleep pattern (-HP:?), no laughter outbursts (-HP:0000749), movement disorder (HP:0100022), no seizures (-HP:0001250), no rotatory nystagmus (-HP:0001583); severe intellectual disability (HP:0010864); global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "0000051416" "00139" "00065301" "01604" "Familial, autosomal recessive" "" "intellectual disability (HP:0001249), microcephaly (HP:0000252), no hearing loss (-HP:0000365), no cortical visual impairment (-HP:0100704), no oral frenuli/ankyloglossia (-HP:0010296), no cleft palate (-HP:0000175), no congenital heart disease (-HP:0030680), no kyphoscoliosis/scoliosis (-HP:0002751), no brachydactyly (-HP:0001156) & no clinodactyly (-HP:0030084), no 4/5 toe syndactyl (-HP:0004692), abnormal balance (HP:0002141), abnormal sleep pattern (HP:?), no laughter outbursts (-HP:0000749), movement disorder (HP:0100022), no seizures (-HP:0001250), no rotatory nystagmus (-HP:0001583); severe intellectual disability (HP:0010864); global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "0000051417" "00139" "00065302" "01604" "Familial, autosomal recessive" "" "intellectual disability (HP:0001249), microcephaly (HP:0000252), no hearing loss (-HP:0000365), no cortical visual impairment (-HP:0100704), no oral frenuli/ankyloglossia (-HP:0010296), no cleft palate (-HP:0000175), no congenital heart disease (-HP:0030680), kyphoscoliosis/scoliosis (HP:0002751), no brachydactyly (-HP:0001156) & no clinodactyly (-HP:0030084), no 4/5 toe syndactyl (-HP:0004692), abnormal balance (HP:0002141), abnormal sleep pattern (HP:?), laughter outbursts (HP:0000749), movement disorder (HP:0100022), seizures (HP:0001250), rotatory nystagmus (HP:0001583); severe intellectual disability (HP:0010864); global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "0000051418" "00139" "00065303" "01604" "Familial, autosomal recessive" "" "intellectual disability (HP:0001249), microcephaly (HP:0000252), no hearing loss (-HP:0000365), cortical visual impairment (HP:0100704), no oral frenuli/ankyloglossia (-HP:0010296), no cleft palate (-HP:0000175), no congenital heart disease (-HP:0030680), kyphoscoliosis/scoliosis (HP:0002751), clinodactyly (HP:0030084), no 4/5 toe syndactyl (-HP:0004692), abnormal balance (HP:0002141), abnormal sleep pattern (HP:?), laughter outbursts (HP:0000749), movement disorder (HP:0100022), no seizures (-HP:0001250), no rotatory nystagmus (-HP:0001583); severe intellectual disability (HP:0010864); global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065451" "00065298" "1" "01604" "01604" "2016-05-27 12:33:16" "" "" "PCRq;SEQ;SEQ-NG" "DNA" "" "" "0000065452" "00065299" "1" "01604" "01604" "2016-05-27 12:42:44" "" "" "PCRq;SEQ;SEQ-NG" "DNA" "" "" "0000065453" "00065300" "1" "01604" "01604" "2016-05-27 12:47:56" "" "" "PCRq;SEQ;SEQ-NG" "DNA" "" "" "0000065454" "00065301" "1" "01604" "01604" "2016-05-27 13:22:57" "" "" "PCRq;SEQ;SEQ-NG" "DNA" "" "" "0000065455" "00065302" "1" "01604" "01604" "2016-05-27 13:29:14" "" "" "PCRq;SEQ;SEQ-NG" "DNA" "" "" "0000065456" "00065303" "1" "01604" "01604" "2016-05-27 13:35:52" "" "" "PCRq;SEQ;SEQ-NG;TaqMan" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000065451" "TELO2" "0000065452" "TELO2" "0000065453" "TELO2" "0000065454" "TELO2" "0000065455" "TELO2" "0000065456" "TELO2" ## 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 = 351 "{{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}}" "0000097140" "11" "90" "16" "1550445" "1550445" "subst" "0.000175433" "01604" "TELO2_000006" "g.1550445G>T" "" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "" "" "total RNA expression reduced (0.33)" "Germline" "yes" "" "0" "" "" "g.1500444G>T" "" "pathogenic" "" "0000097141" "21" "90" "16" "1556985" "1556985" "subst" "1.24055E-5" "01604" "TELO2_000003" "g.1556985A>T" "" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "" "" "total RNA reduced (0.33)" "Germline" "yes" "" "0" "" "" "g.1506984A>T" "" "pathogenic" "" "0000097142" "11" "90" "16" "1550445" "1550445" "subst" "0.000175433" "01604" "TELO2_000006" "g.1550445G>T" "" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "" "" "total RNA expression reduced (0.33)" "Germline" "yes" "" "0" "" "" "g.1500444G>T" "" "pathogenic" "" "0000097143" "21" "90" "16" "1556985" "1556985" "subst" "1.24055E-5" "01604" "TELO2_000003" "g.1556985A>T" "" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "" "" "total RNA reduced (0.33)" "Germline" "yes" "" "0" "" "" "g.1506984A>T" "" "pathogenic" "" "0000097144" "11" "90" "16" "1550445" "1550445" "subst" "0.000175433" "01604" "TELO2_000006" "g.1550445G>T" "" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "" "" "total RNA expression reduced (0.33)" "Germline" "yes" "" "0" "" "" "g.1500444G>T" "" "pathogenic" "" "0000097145" "21" "90" "16" "1556985" "1556985" "subst" "1.24055E-5" "01604" "TELO2_000003" "g.1556985A>T" "" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "" "" "total RNA reduced (0.33)" "Germline" "yes" "" "0" "" "" "g.1506984A>T" "" "pathogenic" "" "0000097146" "21" "90" "16" "1550445" "1550445" "subst" "0.000175433" "01604" "TELO2_000006" "g.1550445G>T" "" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "" "" "total RNA reduced (0.17)" "Germline" "" "" "0" "" "" "g.1500444G>T" "" "pathogenic" "" "0000097147" "11" "90" "16" "1557606" "1557606" "subst" "0.000125895" "01604" "TELO2_000007" "g.1557606G>A" "" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "" "" "total RNA reduced (0.17)" "Germline" "" "" "0" "" "" "g.1507605G>A" "" "pathogenic" "" "0000097148" "11" "90" "16" "1547458" "1547458" "subst" "0" "01604" "TELO2_000004" "g.1547458C>T" "" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "" "" "" "Germline" "" "" "0" "" "" "g.1497457C>T" "" "pathogenic" "" "0000097149" "21" "90" "16" "1552987" "1552987" "subst" "0" "01604" "TELO2_000005" "g.1552987G>A" "" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "" "" "" "Germline" "" "" "0" "" "" "g.1502986G>A" "" "pathogenic" "" "0000097150" "21" "90" "16" "1555603" "1555603" "subst" "0" "01604" "TELO2_000002" "g.1555603G>A" "" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "" "IVS16+1G>A" "" "Germline" "yes" "" "0" "" "" "g.1505602G>A" "" "pathogenic" "" "0000097151" "21" "90" "16" "1545525" "1545525" "subst" "0" "01604" "TELO2_000001" "g.1545525C>T" "" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1495524C>T" "" "pathogenic" "" "0000097152" "11" "90" "16" "1556985" "1556985" "subst" "1.24055E-5" "01604" "TELO2_000003" "g.1556985A>T" "" "{PMID:You 2016:27132593}, {DOI:You 2016:10.1016/j.ajhg.2016.03.014}" "" "" "" "Germline" "" "" "0" "" "" "g.1506984A>T" "" "pathogenic" "" "0000247970" "0" "10" "16" "1614097" "1614097" "subst" "0.388665" "02325" "IFT140_000040" "g.1614097A>G" "" "" "" "IFT140(NM_014714.3):c.1968T>C (p.S656=), IFT140(NM_014714.4):c.1968T>C (p.S656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1564096A>G" "" "benign" "" "0000248025" "0" "10" "16" "1573810" "1573810" "subst" "0.964365" "02325" "IFT140_000023" "g.1573810A>G" "" "" "" "IFT140(NM_014714.3):c.3270+19T>C, IFT140(NM_014714.4):c.3270+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1523809A>G" "" "benign" "" "0000253231" "0" "10" "16" "1614097" "1614097" "subst" "0.388665" "01943" "IFT140_000040" "g.1614097A>G" "" "" "" "IFT140(NM_014714.3):c.1968T>C (p.S656=), IFT140(NM_014714.4):c.1968T>C (p.S656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1564096A>G" "" "benign" "" "0000253286" "0" "10" "16" "1573810" "1573810" "subst" "0.964365" "01943" "IFT140_000023" "g.1573810A>G" "" "" "" "IFT140(NM_014714.3):c.3270+19T>C, IFT140(NM_014714.4):c.3270+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1523809A>G" "" "benign" "" "0000253480" "0" "10" "16" "1608082" "1608082" "subst" "0.24784" "01943" "IFT140_000037" "g.1608082A>G" "" "" "" "IFT140(NM_014714.3):c.2253T>C (p.P751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1558081A>G" "" "benign" "" "0000254258" "0" "30" "16" "1616275" "1616275" "subst" "0.000617244" "01943" "IFT140_000043" "g.1616275A>G" "" "" "" "IFT140(NM_014714.3):c.1788T>C (p.D596=, p.(Asp596=)), IFT140(NM_014714.4):c.1788T>C (p.D596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1566274A>G" "" "likely benign" "" "0000255997" "0" "50" "16" "1570262" "1570262" "subst" "0.00475092" "01943" "IFT140_000016" "g.1570262A>G" "" "" "" "IFT140(NM_014714.3):c.3743T>C (p.I1248T, p.(Ile1248Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520261A>G" "" "VUS" "" "0000277851" "0" "10" "16" "1621518" "1621518" "subst" "0.00419494" "02330" "IFT140_000044" "g.1621518G>T" "" "" "" "IFT140(NM_014714.3):c.1542C>A (p.L514=, p.(Leu514=)), IFT140(NM_014714.4):c.1542C>A (p.L514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1571517G>T" "" "benign" "" "0000277852" "0" "10" "16" "1616232" "1616232" "subst" "0.00079184" "02330" "IFT140_000042" "g.1616232C>T" "" "" "" "IFT140(NM_014714.3):c.1831G>A (p.V611I, p.(Val611Ile)), IFT140(NM_014714.4):c.1831G>A (p.V611I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1566231C>T" "" "benign" "" "0000277853" "0" "10" "16" "1613994" "1613994" "subst" "0.00011649" "02330" "IFT140_000039" "g.1613994G>A" "" "" "" "IFT140(NM_014714.3):c.2067+4C>T, IFT140(NM_014714.4):c.2067+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1563993G>A" "" "benign" "" "0000277854" "0" "10" "16" "1591962" "1591962" "subst" "0.228621" "02330" "IFT140_000034" "g.1591962G>A" "" "" "" "IFT140(NM_014714.4):c.2400-15165C>T, TMEM204(NM_024600.6):c.321G>A (p.T107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1541961G>A" "" "benign" "" "0000277855" "0" "10" "16" "1592087" "1592087" "subst" "0.230346" "02330" "IFT140_000035" "g.1592087T>C" "" "" "" "IFT140(NM_014714.4):c.2400-15290A>G, TMEM204(NM_024600.6):c.436+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1542086T>C" "" "benign" "" "0000277856" "0" "10" "16" "1584294" "1584294" "subst" "0.00475846" "02330" "IFT140_000032" "g.1584294C>T" "" "" "" "IFT140(NM_014714.4):c.2400-7497G>A, TMEM204(NM_024600.6):c.18C>T (p.L6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1534293C>T" "" "benign" "" "0000277857" "0" "10" "16" "1575995" "1575995" "subst" "1.83889E-5" "02330" "IFT140_000030" "g.1575995C>T" "" "" "" "IFT140(NM_014714.3):c.2661G>A (p.E887=), IFT140(NM_014714.4):c.2661G>A (p.E887=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1525994C>T" "" "benign" "" "0000277858" "0" "30" "16" "1575870" "1575870" "subst" "0.000981763" "02330" "IFT140_000028" "g.1575870C>T" "" "" "" "IFT140(NM_014714.4):c.2768+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1525869C>T" "" "likely benign" "" "0000277859" "0" "10" "16" "1574615" "1574615" "subst" "0.00383233" "02330" "IFT140_000026" "g.1574615C>T" "" "" "" "IFT140(NM_014714.3):c.3079G>A (p.G1027R), IFT140(NM_014714.4):c.3079G>A (p.G1027R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1524614C>T" "" "benign" "" "0000277860" "0" "10" "16" "1574590" "1574590" "subst" "7.84877E-5" "02330" "IFT140_000025" "g.1574590C>T" "" "" "" "IFT140(NM_014714.3):c.3104G>A (p.R1035Q, p.(Arg1035Gln)), IFT140(NM_014714.4):c.3104G>A (p.R1035Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1524589C>T" "" "benign" "" "0000277861" "0" "10" "16" "1573546" "1573546" "subst" "0.000200008" "02330" "IFT140_000022" "g.1573546C>T" "" "" "" "IFT140(NM_014714.3):c.3426G>A (p.A1142=), IFT140(NM_014714.4):c.3426G>A (p.A1142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1523545C>T" "" "benign" "" "0000277862" "0" "10" "16" "1652388" "1652388" "subst" "2.0316E-5" "02330" "IFT140_000059" "g.1652388G>A" "" "" "" "IFT140(NM_014714.4):c.352C>T (p.L118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1602387G>A" "" "benign" "" "0000277863" "0" "50" "16" "1570721" "1570721" "subst" "0.000356944" "02330" "IFT140_000021" "g.1570721G>A" "" "" "" "IFT140(NM_014714.3):c.3542C>T (p.S1181L, p.(Ser1181Leu)), IFT140(NM_014714.4):c.3542C>T (p.S1181L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520720G>A" "" "VUS" "" "0000277864" "0" "10" "16" "1570618" "1570618" "subst" "0" "02330" "IFT140_000020" "g.1570618G>A" "" "" "" "IFT140(NM_014714.4):c.3645C>T (p.A1215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520617G>A" "" "benign" "" "0000277865" "0" "10" "16" "1570589" "1570589" "subst" "0.000141789" "02330" "IFT140_000019" "g.1570589C>T" "" "" "" "IFT140(NM_014714.4):c.3660+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520588C>T" "" "benign" "" "0000277866" "0" "10" "16" "1652359" "1652359" "subst" "0.000382979" "02330" "IFT140_000058" "g.1652359G>A" "" "" "" "IFT140(NM_014714.4):c.369+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1602358G>A" "" "benign" "" "0000277867" "0" "10" "16" "1570312" "1570312" "subst" "0.000312767" "02330" "IFT140_000018" "g.1570312C>T" "" "" "" "IFT140(NM_014714.3):c.3693G>A (p.T1231=, p.(Thr1231=)), IFT140(NM_014714.4):c.3693G>A (p.T1231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520311C>T" "" "benign" "" "0000277868" "0" "10" "16" "1570294" "1570294" "subst" "0.00245689" "02330" "IFT140_000017" "g.1570294G>A" "" "" "" "IFT140(NM_014714.3):c.3711C>T (p.F1237=), IFT140(NM_014714.4):c.3711C>T (p.F1237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520293G>A" "" "benign" "" "0000277869" "0" "30" "16" "1570059" "1570059" "subst" "0.00169344" "02330" "IFT140_000014" "g.1570059G>A" "" "" "" "IFT140(NM_014714.3):c.3874-11C>T (p.(=)), IFT140(NM_014714.4):c.3874-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520058G>A" "" "likely benign" "" "0000277870" "0" "10" "16" "1569934" "1569934" "subst" "0.00134738" "02330" "IFT140_000012" "g.1569934C>T" "" "" "" "IFT140(NM_014714.3):c.3988G>A (p.(Ala1330Thr)), IFT140(NM_014714.4):c.3988G>A (p.A1330T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1519933C>T" "" "benign" "" "0000277871" "0" "10" "16" "1569872" "1569872" "subst" "0.00399486" "02330" "IFT140_000011" "g.1569872G>A" "" "" "" "IFT140(NM_014714.3):c.4040+10C>T (p.(=)), IFT140(NM_014714.4):c.4040+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1519871G>A" "" "benign" "" "0000277872" "0" "10" "16" "1642339" "1642339" "subst" "0.000735641" "02330" "IFT140_000055" "g.1642339G>A" "" "" "" "IFT140(NM_014714.3):c.492-20C>T (p.(=)), IFT140(NM_014714.4):c.492-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1592338G>A" "" "benign" "" "0000277873" "0" "10" "16" "1642265" "1642265" "subst" "0.00179884" "02330" "IFT140_000054" "g.1642265G>A" "" "" "" "IFT140(NM_014714.4):c.546C>T (p.D182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1592264G>A" "" "benign" "" "0000281486" "0" "10" "16" "1657284" "1657284" "subst" "0.401422" "02325" "IFT140_000060" "g.1657284C>G" "" "" "" "IFT140(NM_014714.3):c.-17G>C, IFT140(NM_014714.4):c.-17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1607283C>G" "" "benign" "" "0000281487" "0" "10" "16" "1574863" "1574863" "subst" "0.194213" "02325" "IFT140_000027" "g.1574863G>A" "" "" "" "IFT140(NM_014714.3):c.2919C>T (p.A973=), IFT140(NM_014714.4):c.2919C>T (p.A973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1524862G>A" "" "benign" "" "0000281488" "0" "10" "16" "1573890" "1573890" "subst" "0.0929127" "02325" "IFT140_000024" "g.1573890G>A" "" "" "" "IFT140(NM_014714.3):c.3209C>T (p.A1070V), IFT140(NM_014714.4):c.3209C>T (p.A1070V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1523889G>A" "" "benign" "" "0000281489" "0" "10" "16" "1639793" "1639793" "subst" "0.168339" "02325" "IFT140_000052" "g.1639793C>G" "" "" "" "IFT140(NM_014714.3):c.635-12G>C, IFT140(NM_014714.4):c.635-12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1589792C>G" "" "benign" "" "0000285168" "0" "10" "16" "1574615" "1574615" "subst" "0.00383233" "02326" "IFT140_000026" "g.1574615C>T" "" "" "" "IFT140(NM_014714.3):c.3079G>A (p.G1027R), IFT140(NM_014714.4):c.3079G>A (p.G1027R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1524614C>T" "" "benign" "" "0000285169" "0" "10" "16" "1638000" "1638000" "subst" "0.0506894" "02326" "IFT140_000050" "g.1638000C>G" "" "" "" "IFT140(NM_014714.3):c.836G>C (p.R279P, p.(Arg279Pro)), IFT140(NM_014714.4):c.836G>C (p.R279P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1587999C>G" "" "benign" "" "0000289449" "0" "10" "16" "1657284" "1657284" "subst" "0.401422" "01943" "IFT140_000060" "g.1657284C>G" "" "" "" "IFT140(NM_014714.3):c.-17G>C, IFT140(NM_014714.4):c.-17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1607283C>G" "" "benign" "" "0000289450" "0" "10" "16" "1634385" "1634385" "subst" "0.0658792" "01943" "IFT140_000049" "g.1634385C>T" "" "" "" "IFT140(NM_014714.3):c.1192G>A (p.V398I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1584384C>T" "" "benign" "" "0000289451" "0" "50" "16" "1634273" "1634273" "subst" "6.92385E-5" "01943" "IFT140_000048" "g.1634273C>T" "" "" "" "IFT140(NM_014714.3):c.1304G>A (p.G435E), IFT140(NM_014714.4):c.1304G>A (p.(Gly435Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1584272C>T" "" "VUS" "" "0000289452" "0" "50" "16" "1634241" "1634241" "subst" "0.00189981" "01943" "IFT140_000047" "g.1634241T>C" "" "" "" "IFT140(NM_014714.3):c.1336A>G (p.I446V, p.(Ile446Val)), IFT140(NM_014714.4):c.1336A>G (p.I446V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1584240T>C" "" "VUS" "" "0000289453" "0" "50" "16" "1621518" "1621519" "delins" "0" "01943" "IFT140_000045" "g.1621518_1621519delinsTT" "" "" "" "IFT140(NM_014714.3):c.1541_1542delTCinsAA (p.L514Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1571517_1571518delinsTT" "" "VUS" "" "0000289454" "0" "30" "16" "1621518" "1621518" "subst" "0.00419494" "01943" "IFT140_000044" "g.1621518G>T" "" "" "" "IFT140(NM_014714.3):c.1542C>A (p.L514=, p.(Leu514=)), IFT140(NM_014714.4):c.1542C>A (p.L514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1571517G>T" "" "likely benign" "" "0000289455" "0" "10" "16" "1616201" "1616201" "subst" "0.0871907" "01943" "IFT140_000041" "g.1616201C>T" "" "" "" "IFT140(NM_014714.3):c.1862G>A (p.R621Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1566200C>T" "" "benign" "" "0000289456" "0" "30" "16" "1612052" "1612052" "subst" "4.08827E-6" "01943" "IFT140_000038" "g.1612052G>A" "" "" "" "IFT140(NM_014714.3):c.2133C>T (p.F711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1562051G>A" "" "likely benign" "" "0000289457" "0" "50" "16" "1576711" "1576711" "subst" "0" "01943" "IFT140_000031" "g.1576711T>C" "" "" "" "IFT140(NM_014714.3):c.2486A>G (p.H829R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1526710T>C" "" "VUS" "" "0000289458" "0" "30" "16" "1575995" "1575995" "subst" "1.83889E-5" "01943" "IFT140_000030" "g.1575995C>T" "" "" "" "IFT140(NM_014714.3):c.2661G>A (p.E887=), IFT140(NM_014714.4):c.2661G>A (p.E887=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1525994C>T" "" "likely benign" "" "0000289459" "0" "10" "16" "1574863" "1574863" "subst" "0.194213" "01943" "IFT140_000027" "g.1574863G>A" "" "" "" "IFT140(NM_014714.3):c.2919C>T (p.A973=), IFT140(NM_014714.4):c.2919C>T (p.A973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1524862G>A" "" "benign" "" "0000289460" "0" "10" "16" "1573890" "1573890" "subst" "0.0929127" "01943" "IFT140_000024" "g.1573890G>A" "" "" "" "IFT140(NM_014714.3):c.3209C>T (p.A1070V), IFT140(NM_014714.4):c.3209C>T (p.A1070V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1523889G>A" "" "benign" "" "0000289462" "0" "30" "16" "1570312" "1570312" "subst" "0.000312767" "01943" "IFT140_000018" "g.1570312C>T" "" "" "" "IFT140(NM_014714.3):c.3693G>A (p.T1231=, p.(Thr1231=)), IFT140(NM_014714.4):c.3693G>A (p.T1231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520311C>T" "" "likely benign" "" "0000289463" "0" "30" "16" "1570294" "1570294" "subst" "0.00245689" "01943" "IFT140_000017" "g.1570294G>A" "" "" "" "IFT140(NM_014714.3):c.3711C>T (p.F1237=), IFT140(NM_014714.4):c.3711C>T (p.F1237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520293G>A" "" "likely benign" "" "0000289464" "0" "30" "16" "1570216" "1570216" "subst" "6.09097E-5" "01943" "IFT140_000015" "g.1570216C>T" "" "" "" "IFT140(NM_014714.3):c.3789G>A (p.P1263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520215C>T" "" "likely benign" "" "0000289465" "0" "50" "16" "1569975" "1569980" "del" "0" "01943" "IFT140_000013" "g.1569975_1569980del" "" "" "" "IFT140(NM_014714.3):c.3955_3960del (p.(Ala1319_Lys1320del)), IFT140(NM_014714.3):c.3955_3960delGCCAAG (p.A1319_K1320del), IFT140(NM_014714.4):c.395..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1519974_1519979del" "" "VUS" "" "0000289466" "0" "30" "16" "1642549" "1642549" "subst" "0.000264097" "01943" "IFT140_000056" "g.1642549C>T" "" "" "" "IFT140(NM_014714.3):c.410G>A (p.R137Q, p.(Arg137Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1592548C>T" "" "likely benign" "" "0000289467" "0" "50" "16" "1642207" "1642207" "subst" "4.06085E-6" "01943" "IFT140_000053" "g.1642207C>T" "" "" "" "IFT140(NM_014714.3):c.604G>A (p.G202R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1592206C>T" "" "VUS" "" "0000289468" "0" "10" "16" "1639793" "1639793" "subst" "0.168339" "01943" "IFT140_000052" "g.1639793C>G" "" "" "" "IFT140(NM_014714.3):c.635-12G>C, IFT140(NM_014714.4):c.635-12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1589792C>G" "" "benign" "" "0000289469" "0" "30" "16" "1639721" "1639721" "subst" "2.84259E-5" "01943" "IFT140_000051" "g.1639721G>A" "" "" "" "IFT140(NM_014714.3):c.695C>T (p.T232M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1589720G>A" "" "likely benign" "" "0000289470" "0" "10" "16" "1638000" "1638000" "subst" "0.0506894" "01943" "IFT140_000050" "g.1638000C>G" "" "" "" "IFT140(NM_014714.3):c.836G>C (p.R279P, p.(Arg279Pro)), IFT140(NM_014714.4):c.836G>C (p.R279P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1587999C>G" "" "benign" "" "0000309214" "0" "10" "16" "1605044" "1605044" "subst" "0.0549184" "02330" "IFT140_000036" "g.1605044C>T" "" "" "" "IFT140(NM_014714.4):c.2399+2892G>A, TMEM204(NM_024600.6):c.*17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1555043C>T" "" "benign" "" "0000324424" "0" "50" "16" "1621519" "1621519" "subst" "0.00419191" "01804" "IFT140_000046" "g.1621519A>T" "" "" "" "IFT140(NM_014714.3):c.1541T>A (p.L514H, p.(Leu514His)), IFT140(NM_014714.4):c.1541T>A (p.L514H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1571518A>T" "" "VUS" "" "0000339506" "0" "10" "16" "1608082" "1608082" "subst" "0.24784" "02327" "IFT140_000037" "g.1608082A>G" "" "" "" "IFT140(NM_014714.3):c.2253T>C (p.P751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1558081A>G" "" "benign" "" "0000341920" "0" "50" "16" "1561037" "1561037" "subst" "0.000828865" "02327" "IFT140_000062" "g.1561037G>A" "" "" "" "IFT140(NM_014714.3):c.4297C>T (p.R1433C, p.(Arg1433Cys)), IFT140(NM_014714.4):c.4297C>T (p.R1433C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1511036G>A" "" "VUS" "" "0000348170" "0" "50" "16" "1570217" "1570217" "subst" "8.12117E-6" "02327" "IFT140_000063" "g.1570217G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520216G>A" "" "VUS" "" "0000348564" "0" "70" "16" "1652528" "1652528" "subst" "1.62537E-5" "02327" "IFT140_000068" "g.1652528G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1602527G>A" "" "likely pathogenic" "" "0000350216" "0" "70" "16" "1575889" "1575889" "subst" "0" "02327" "IFT140_000064" "g.1575889A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1525888A>C" "" "likely pathogenic" "" "0000350733" "0" "50" "16" "1621405" "1621405" "subst" "0" "02327" "IFT140_000065" "g.1621405T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1571404T>A" "" "VUS" "" "0000350734" "0" "90" "16" "1637198" "1637198" "subst" "0" "02327" "IFT140_000066" "g.1637198C>A" "" "" "" "IFT140(NM_014714.3):c.1009+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1587197C>A" "" "pathogenic" "" "0000556688" "0" "30" "16" "1550409" "1550409" "subst" "0.0113903" "01804" "IFT140_000121" "g.1550409C>T" "" "" "" "TELO2(NM_016111.3):c.1064C>T (p.(Pro355Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1500408C>T" "" "likely benign" "" "0000556689" "0" "50" "16" "1551445" "1551445" "subst" "8.22247E-6" "01943" "IFT140_000122" "g.1551445G>A" "" "" "" "TELO2(NM_016111.3):c.1306G>A (p.E436K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1501444G>A" "" "VUS" "" "0000556690" "0" "30" "16" "1561031" "1561031" "subst" "3.45411E-5" "01804" "IFT140_000123" "g.1561031C>T" "" "" "" "IFT140(NM_014714.3):c.4303G>A (p.(Val1435Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1511030C>T" "" "likely benign" "" "0000556691" "0" "10" "16" "1561037" "1561037" "subst" "0.000828865" "02330" "IFT140_000062" "g.1561037G>A" "" "" "" "IFT140(NM_014714.3):c.4297C>T (p.R1433C, p.(Arg1433Cys)), IFT140(NM_014714.4):c.4297C>T (p.R1433C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1511036G>A" "" "benign" "" "0000556692" "0" "30" "16" "1561037" "1561037" "subst" "0.000828865" "01943" "IFT140_000062" "g.1561037G>A" "" "" "" "IFT140(NM_014714.3):c.4297C>T (p.R1433C, p.(Arg1433Cys)), IFT140(NM_014714.4):c.4297C>T (p.R1433C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1511036G>A" "" "likely benign" "" "0000556693" "0" "30" "16" "1561037" "1561037" "subst" "0.000828865" "01804" "IFT140_000062" "g.1561037G>A" "" "" "" "IFT140(NM_014714.3):c.4297C>T (p.R1433C, p.(Arg1433Cys)), IFT140(NM_014714.4):c.4297C>T (p.R1433C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1511036G>A" "" "likely benign" "" "0000556694" "0" "10" "16" "1561171" "1561171" "subst" "2.66377E-5" "02330" "IFT140_000124" "g.1561171A>G" "" "" "" "IFT140(NM_014714.4):c.4183-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1511170A>G" "" "benign" "" "0000556695" "0" "30" "16" "1568268" "1568268" "subst" "2.03199E-5" "01943" "IFT140_000125" "g.1568268G>A" "" "" "" "IFT140(NM_014714.3):c.4131C>T (p.D1377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1518267G>A" "" "likely benign" "" "0000556696" "0" "30" "16" "1569872" "1569872" "subst" "0.00399486" "01943" "IFT140_000011" "g.1569872G>A" "" "" "" "IFT140(NM_014714.3):c.4040+10C>T (p.(=)), IFT140(NM_014714.4):c.4040+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1519871G>A" "" "likely benign" "" "0000556697" "0" "30" "16" "1569929" "1569929" "subst" "0.00216072" "02330" "IFT140_000126" "g.1569929C>G" "" "" "" "IFT140(NM_014714.3):c.3993G>C (p.Q1331H, p.(Gln1331His)), IFT140(NM_014714.4):c.3993G>C (p.Q1331H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1519928C>G" "" "likely benign" "" "0000556698" "0" "50" "16" "1569975" "1569980" "del" "0" "02330" "IFT140_000013" "g.1569975_1569980del" "" "" "" "IFT140(NM_014714.3):c.3955_3960del (p.(Ala1319_Lys1320del)), IFT140(NM_014714.3):c.3955_3960delGCCAAG (p.A1319_K1320del), IFT140(NM_014714.4):c.395..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1519974_1519979del" "" "VUS" "" "0000556699" "0" "10" "16" "1570058" "1570058" "subst" "0.000107612" "02330" "IFT140_000127" "g.1570058T>G" "" "" "" "IFT140(NM_014714.3):c.3874-10A>C, IFT140(NM_014714.4):c.3874-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1520057T>G" "" "benign" "" "0000556700" "0" "30" "16" "1570058" "1570058" "subst" "0.000107612" "01943" "IFT140_000127" "g.1570058T>G" "" "" "" "IFT140(NM_014714.3):c.3874-10A>C, IFT140(NM_014714.4):c.3874-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1520057T>G" "" "likely benign" "" "0000556701" "0" "50" "16" "1570194" "1570194" "subst" "8.1213E-6" "02330" "IFT140_000128" "g.1570194C>A" "" "" "" "IFT140(NM_014714.4):c.3811G>T (p.G1271C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1520193C>A" "" "VUS" "" "0000556702" "0" "50" "16" "1570287" "1570287" "subst" "7.30947E-5" "02330" "IFT140_000129" "g.1570287C>T" "" "" "" "IFT140(NM_014714.4):c.3718G>A (p.V1240M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1520286C>T" "" "VUS" "" "0000556703" "0" "10" "16" "1570321" "1570321" "subst" "0.000150351" "02330" "IFT140_000130" "g.1570321G>A" "" "" "" "IFT140(NM_014714.4):c.3684C>T (p.S1228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1520320G>A" "" "benign" "" "0000556704" "0" "50" "16" "1570738" "1570738" "subst" "2.04879E-5" "02327" "IFT140_000131" "g.1570738G>C" "" "" "" "IFT140(NM_014714.3):c.3525C>G (p.(Thr1175=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1520737G>C" "" "VUS" "" "0000556706" "0" "50" "16" "1573711" "1573711" "subst" "1.22933E-5" "02330" "IFT140_000132" "g.1573711C>T" "" "" "" "IFT140(NM_014714.4):c.3271-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1523710C>T" "" "VUS" "" "0000556707" "0" "50" "16" "1574608" "1574608" "subst" "4.15465E-5" "01943" "IFT140_000133" "g.1574608G>A" "" "" "" "IFT140(NM_014714.3):c.3086C>T (p.A1029V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1524607G>A" "" "VUS" "" "0000556708" "0" "10" "16" "1574615" "1574615" "subst" "0.00383233" "01943" "IFT140_000026" "g.1574615C>T" "" "" "" "IFT140(NM_014714.3):c.3079G>A (p.G1027R), IFT140(NM_014714.4):c.3079G>A (p.G1027R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1524614C>T" "" "benign" "" "0000556709" "0" "50" "16" "1574787" "1574787" "subst" "0" "02330" "IFT140_000134" "g.1574787T>G" "" "" "" "IFT140(NM_014714.4):c.2995A>C (p.K999Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1524786T>G" "" "VUS" "" "0000556710" "0" "10" "16" "1574794" "1574794" "subst" "0.000636345" "02330" "IFT140_000135" "g.1574794A>G" "" "" "" "IFT140(NM_014714.3):c.2988T>C (p.N996=), IFT140(NM_014714.4):c.2988T>C (p.N996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1524793A>G" "" "benign" "" "0000556712" "0" "30" "16" "1575309" "1575309" "subst" "0.000232746" "02330" "IFT140_000137" "g.1575309C>T" "" "" "" "IFT140(NM_014714.3):c.2787G>A (p.T929=), IFT140(NM_014714.4):c.2787G>A (p.T929=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1525308C>T" "" "likely benign" "" "0000556713" "0" "30" "16" "1575309" "1575309" "subst" "0.000232746" "01943" "IFT140_000137" "g.1575309C>T" "" "" "" "IFT140(NM_014714.3):c.2787G>A (p.T929=), IFT140(NM_014714.4):c.2787G>A (p.T929=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1525308C>T" "" "likely benign" "" "0000556714" "0" "30" "16" "1575901" "1575901" "subst" "0.000281303" "01943" "IFT140_000089" "g.1575901G>C" "" "" "" "IFT140(NM_014714.3):c.2755C>G (p.R919G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1525900G>C" "" "likely benign" "" "0000556715" "0" "50" "16" "1576020" "1576020" "subst" "0" "01943" "IFT140_000138" "g.1576020T>C" "" "" "" "IFT140(NM_014714.3):c.2636A>G (p.Y879C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1526019T>C" "" "VUS" "" "0000556717" "0" "10" "16" "1576073" "1576073" "subst" "7.27931E-5" "02330" "IFT140_000140" "g.1576073G>A" "" "" "" "IFT140(NM_014714.3):c.2583C>T (p.D861=), IFT140(NM_014714.4):c.2583C>T (p.D861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1526072G>A" "" "benign" "" "0000556718" "0" "10" "16" "1576628" "1576628" "subst" "0.00310376" "02330" "IFT140_000141" "g.1576628C>T" "" "" "" "IFT140(NM_014714.3):c.2569G>A (p.G857S, p.(Gly857Ser)), IFT140(NM_014714.4):c.2569G>A (p.G857S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1526627C>T" "" "benign" "" "0000556719" "0" "50" "16" "1576628" "1576628" "subst" "0.00310376" "01943" "IFT140_000141" "g.1576628C>T" "" "" "" "IFT140(NM_014714.3):c.2569G>A (p.G857S, p.(Gly857Ser)), IFT140(NM_014714.4):c.2569G>A (p.G857S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1526627C>T" "" "VUS" "" "0000556885" "0" "50" "16" "1612095" "1612095" "subst" "0" "02330" "IFT140_000142" "g.1612095A>G" "" "" "" "IFT140(NM_014714.4):c.2090T>C (p.F697S, p.(Phe697Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1562094A>G" "" "VUS" "" "0000556886" "0" "30" "16" "1613994" "1613994" "subst" "0.00011649" "01943" "IFT140_000039" "g.1613994G>A" "" "" "" "IFT140(NM_014714.3):c.2067+4C>T, IFT140(NM_014714.4):c.2067+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1563993G>A" "" "likely benign" "" "0000556887" "0" "30" "16" "1614057" "1614057" "subst" "0.00521859" "01804" "IFT140_000143" "g.1614057G>A" "" "" "" "IFT140(NM_014714.3):c.2008C>T (p.(Pro670Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1564056G>A" "" "likely benign" "" "0000556888" "0" "50" "16" "1614090" "1614090" "subst" "4.0848E-5" "01943" "IFT140_000144" "g.1614090G>A" "" "" "" "IFT140(NM_014714.3):c.1975C>T (p.R659W, p.(Arg659Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1564089G>A" "" "VUS" "" "0000556889" "0" "30" "16" "1614147" "1614147" "subst" "0.00544465" "01804" "IFT140_000145" "g.1614147C>T" "" "" "" "IFT140(NM_014714.3):c.1918G>A (p.(Asp640Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1564146C>T" "" "likely benign" "" "0000556890" "0" "30" "16" "1616232" "1616232" "subst" "0.00079184" "01943" "IFT140_000042" "g.1616232C>T" "" "" "" "IFT140(NM_014714.3):c.1831G>A (p.V611I, p.(Val611Ile)), IFT140(NM_014714.4):c.1831G>A (p.V611I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1566231C>T" "" "likely benign" "" "0000556891" "0" "30" "16" "1616239" "1616239" "subst" "0.000966443" "01943" "IFT140_000146" "g.1616239T>C" "" "" "" "IFT140(NM_014714.3):c.1824A>G (p.T608=), IFT140(NM_014714.4):c.1824A>G (p.T608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1566238T>C" "" "likely benign" "" "0000556892" "0" "50" "16" "1618247" "1618247" "subst" "0" "02327" "IFT140_000147" "g.1618247C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1568246C>T" "" "VUS" "" "0000556893" "0" "90" "16" "1621495" "1621495" "subst" "0.000129975" "01943" "IFT140_000003" "g.1621495C>T" "" "" "" "IFT140(NM_014714.3):c.1565G>A (p.G522E), IFT140(NM_014714.4):c.1565G>A (p.G522E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1571494C>T" "" "pathogenic" "" "0000556894" "0" "10" "16" "1621519" "1621519" "subst" "0.00419191" "02330" "IFT140_000046" "g.1621519A>T" "" "" "" "IFT140(NM_014714.3):c.1541T>A (p.L514H, p.(Leu514His)), IFT140(NM_014714.4):c.1541T>A (p.L514H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1571518A>T" "" "benign" "" "0000556895" "0" "30" "16" "1621519" "1621519" "subst" "0.00419191" "01943" "IFT140_000046" "g.1621519A>T" "" "" "" "IFT140(NM_014714.3):c.1541T>A (p.L514H, p.(Leu514His)), IFT140(NM_014714.4):c.1541T>A (p.L514H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1571518A>T" "" "likely benign" "" "0000556968" "0" "30" "16" "1630757" "1630757" "subst" "0.00128358" "01804" "IFT140_000148" "g.1630757T>C" "" "" "" "IFT140(NM_014714.3):c.1524+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1580756T>C" "" "likely benign" "" "0000556981" "0" "30" "16" "1634255" "1634255" "subst" "4.48189E-5" "01943" "IFT140_000149" "g.1634255C>T" "" "" "" "IFT140(NM_014714.3):c.1322G>A (p.R441H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1584254C>T" "" "likely benign" "" "0000556982" "0" "30" "16" "1634267" "1634267" "subst" "4.48029E-5" "01943" "IFT140_000150" "g.1634267G>A" "" "" "" "IFT140(NM_014714.3):c.1310C>T (p.A437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1584266G>A" "" "likely benign" "" "0000556983" "0" "50" "16" "1634361" "1634361" "subst" "1.23136E-5" "02327" "IFT140_000151" "g.1634361C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1584360C>T" "" "VUS" "" "0000556984" "0" "30" "16" "1637200" "1637200" "subst" "0" "02330" "IFT140_000152" "g.1637200T>C" "" "" "" "IFT140(NM_014714.4):c.1008A>G (p.K336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1587199T>C" "" "likely benign" "" "0000556985" "0" "30" "16" "1637997" "1637997" "subst" "0.00541003" "01804" "IFT140_000153" "g.1637997C>T" "" "" "" "IFT140(NM_014714.3):c.839G>A (p.(Arg280Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1587996C>T" "" "likely benign" "" "0000556986" "0" "30" "16" "1638000" "1638000" "subst" "0.0506894" "01804" "IFT140_000050" "g.1638000C>G" "" "" "" "IFT140(NM_014714.3):c.836G>C (p.R279P, p.(Arg279Pro)), IFT140(NM_014714.4):c.836G>C (p.R279P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1587999C>G" "" "likely benign" "" "0000556987" "0" "70" "16" "1639619" "1639621" "del" "0" "01943" "IFT140_000154" "g.1639619_1639621del" "" "" "" "IFT140(NM_014714.3):c.800_802delAAG (p.E267del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1589618_1589620del" "" "likely pathogenic" "" "0000556988" "0" "30" "16" "1639732" "1639732" "subst" "0.000101522" "01943" "IFT140_000155" "g.1639732G>A" "" "" "" "IFT140(NM_014714.3):c.684C>T (p.S228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1589731G>A" "" "likely benign" "" "0000556989" "0" "30" "16" "1642461" "1642461" "subst" "0.000594211" "02330" "IFT140_000156" "g.1642461C>T" "" "" "" "IFT140(NM_014714.4):c.491+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1592460C>T" "" "likely benign" "" "0000556990" "0" "50" "16" "1642478" "1642478" "subst" "5.69133E-5" "01943" "IFT140_000157" "g.1642478G>T" "" "" "" "IFT140(NM_014714.3):c.481C>A (p.P161T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1592477G>T" "" "VUS" "" "0000556991" "0" "30" "16" "1651722" "1651722" "dup" "0" "01943" "IFT140_000158" "g.1651722dup" "" "" "" "IFT140(NM_014714.3):c.369+649dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1601721dup" "" "likely benign" "" "0000556992" "0" "30" "16" "1652418" "1652418" "subst" "0.00703281" "01804" "IFT140_000159" "g.1652418C>T" "" "" "" "IFT140(NM_014714.3):c.322G>A (p.(Val108Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1602417C>T" "" "likely benign" "" "0000556993" "0" "30" "16" "1652561" "1652561" "subst" "2.8475E-5" "02327" "IFT140_000160" "g.1652561C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1602560C>T" "" "likely benign" "" "0000556994" "0" "30" "16" "1652568" "1652568" "subst" "4.07173E-6" "02330" "IFT140_000161" "g.1652568C>T" "" "" "" "IFT140(NM_014714.4):c.172G>A (p.V58I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1602567C>T" "" "likely benign" "" "0000556995" "0" "10" "16" "1657271" "1657271" "subst" "0.0015217" "02330" "IFT140_000162" "g.1657271G>A" "" "" "" "IFT140(NM_014714.4):c.-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1607270G>A" "" "benign" "" "0000615713" "0" "30" "16" "1544448" "1544448" "subst" "4.06683E-6" "01804" "IFT140_000163" "g.1544448T>C" "" "" "" "TELO2(NM_016111.3):c.166T>C (p.(Ser56Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1494447T>C" "" "likely benign" "" "0000615715" "0" "30" "16" "1559822" "1559822" "subst" "0.00331621" "01943" "IFT140_000164" "g.1559822G>T" "" "" "" "TELO2(NM_016111.3):c.2408-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1509821G>T" "" "likely benign" "" "0000615716" "0" "30" "16" "1560982" "1560982" "subst" "0" "01943" "IFT140_000165" "g.1560982T>C" "" "" "" "IFT140(NM_014714.3):c.4352A>G (p.D1451G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1510981T>C" "" "likely benign" "" "0000615717" "0" "90" "16" "1570009" "1570009" "dup" "0" "02327" "IFT140_000166" "g.1570009dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1520008dup" "" "pathogenic" "" "0000615719" "0" "30" "16" "1570624" "1570624" "subst" "8.78247E-5" "01943" "IFT140_000167" "g.1570624C>T" "" "" "" "IFT140(NM_014714.3):c.3639G>A (p.T1213=), IFT140(NM_014714.4):c.3639G>A (p.T1213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1520623C>T" "" "likely benign" "" "0000615720" "0" "50" "16" "1570763" "1570763" "subst" "0" "02330" "IFT140_000168" "g.1570763G>A" "" "" "" "IFT140(NM_014714.4):c.3500C>T (p.T1167I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1520762G>A" "" "VUS" "" "0000615721" "0" "30" "16" "1573895" "1573895" "subst" "8.15474E-6" "01943" "IFT140_000169" "g.1573895G>A" "" "" "" "IFT140(NM_014714.3):c.3204C>T (p.I1068=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1523894G>A" "" "likely benign" "" "0000615722" "0" "30" "16" "1574590" "1574590" "subst" "7.84877E-5" "01943" "IFT140_000025" "g.1574590C>T" "" "" "" "IFT140(NM_014714.3):c.3104G>A (p.R1035Q, p.(Arg1035Gln)), IFT140(NM_014714.4):c.3104G>A (p.R1035Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1524589C>T" "" "likely benign" "" "0000615723" "0" "30" "16" "1574590" "1574590" "subst" "7.84877E-5" "01804" "IFT140_000025" "g.1574590C>T" "" "" "" "IFT140(NM_014714.3):c.3104G>A (p.R1035Q, p.(Arg1035Gln)), IFT140(NM_014714.4):c.3104G>A (p.R1035Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1524589C>T" "" "likely benign" "" "0000615724" "0" "30" "16" "1576628" "1576628" "subst" "0.00310376" "01804" "IFT140_000141" "g.1576628C>T" "" "" "" "IFT140(NM_014714.3):c.2569G>A (p.G857S, p.(Gly857Ser)), IFT140(NM_014714.4):c.2569G>A (p.G857S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1526627C>T" "" "likely benign" "" "0000615725" "0" "10" "16" "1576647" "1576647" "subst" "0.00132766" "02330" "IFT140_000170" "g.1576647G>A" "" "" "" "IFT140(NM_014714.4):c.2550C>T (p.A850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1526646G>A" "" "benign" "" "0000615754" "0" "30" "16" "1612085" "1612085" "subst" "1.2309E-5" "01943" "IFT140_000171" "g.1612085G>A" "" "" "" "IFT140(NM_014714.3):c.2100C>T (p.S700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1562084G>A" "" "likely benign" "" "0000615755" "0" "30" "16" "1616275" "1616275" "subst" "0.000617244" "02330" "IFT140_000043" "g.1616275A>G" "" "" "" "IFT140(NM_014714.3):c.1788T>C (p.D596=, p.(Asp596=)), IFT140(NM_014714.4):c.1788T>C (p.D596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1566274A>G" "" "likely benign" "" "0000615799" "0" "10" "16" "1630746" "1630746" "subst" "0.000625767" "02330" "IFT140_000173" "g.1630746G>C" "" "" "" "IFT140(NM_014714.4):c.1524+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1580745G>C" "" "benign" "" "0000615802" "0" "30" "16" "1634241" "1634241" "subst" "0.00189981" "02327" "IFT140_000047" "g.1634241T>C" "" "" "" "IFT140(NM_014714.3):c.1336A>G (p.I446V, p.(Ile446Val)), IFT140(NM_014714.4):c.1336A>G (p.I446V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1584240T>C" "" "likely benign" "" "0000615803" "0" "30" "16" "1634293" "1634293" "subst" "0" "02330" "IFT140_000174" "g.1634293A>G" "" "" "" "IFT140(NM_014714.4):c.1284T>C (p.N428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1584292A>G" "" "likely benign" "" "0000615804" "0" "30" "16" "1636203" "1636203" "subst" "0.00201927" "02330" "IFT140_000175" "g.1636203G>A" "" "" "" "IFT140(NM_014714.4):c.1083C>T (p.P361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1586202G>A" "" "likely benign" "" "0000615805" "0" "50" "16" "1642227" "1642227" "subst" "4.06081E-6" "01943" "IFT140_000176" "g.1642227A>G" "" "" "" "IFT140(NM_014714.3):c.584T>C (p.L195P), IFT140(NM_014714.4):c.584T>C (p.(Leu195Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1592226A>G" "" "VUS" "" "0000615806" "0" "30" "16" "1642536" "1642536" "subst" "3.65583E-5" "02330" "IFT140_000177" "g.1642536C>T" "" "" "" "IFT140(NM_014714.4):c.423G>A (p.T141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1592535C>T" "" "likely benign" "" "0000615807" "0" "50" "16" "1642571" "1642571" "subst" "2.03222E-5" "01804" "IFT140_000178" "g.1642571A>G" "" "" "" "IFT140(NM_014714.3):c.388T>C (p.(Trp130Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1592570A>G" "" "VUS" "" "0000623383" "0" "50" "16" "1616256" "1616256" "subst" "1.2182E-5" "01943" "IFT140_000172" "g.1616256C>T" "" "" "" "IFT140(NM_014714.3):c.1807G>A (p.D603N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1566255C>T" "" "VUS" "" "0000657739" "0" "50" "16" "1573551" "1573551" "subst" "0" "02327" "IFT140_000179" "g.1573551T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1523550T>C" "" "VUS" "" "0000657740" "0" "50" "16" "1576615" "1576615" "subst" "0" "02327" "IFT140_000180" "g.1576615C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1526614C>T" "" "VUS" "" "0000657751" "0" "50" "16" "1612095" "1612095" "subst" "0" "02327" "IFT140_000142" "g.1612095A>G" "" "" "" "IFT140(NM_014714.4):c.2090T>C (p.F697S, p.(Phe697Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1562094A>G" "" "VUS" "" "0000657757" "0" "30" "16" "1660859" "1660859" "subst" "0" "01804" "CRAMP1L_000002" "g.1660859A>G" "" "" "" "IFT140(NM_014714.3):c.-221-5T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1610858A>G" "" "likely benign" "" "0000680392" "0" "30" "16" "1561056" "1561056" "subst" "4.2931E-6" "01943" "IFT140_000199" "g.1561056C>T" "" "" "" "IFT140(NM_014714.3):c.4278G>A (p.G1426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680393" "0" "50" "16" "1574590" "1574590" "subst" "7.84877E-5" "02325" "IFT140_000025" "g.1574590C>T" "" "" "" "IFT140(NM_014714.3):c.3104G>A (p.R1035Q, p.(Arg1035Gln)), IFT140(NM_014714.4):c.3104G>A (p.R1035Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680411" "0" "50" "16" "1607963" "1607963" "subst" "1.62422E-5" "02325" "IFT140_000200" "g.1607963G>C" "" "" "" "IFT140(NM_014714.4):c.2372C>G (p.A791G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680414" "0" "30" "16" "1618306" "1618306" "subst" "0.00626451" "01804" "IFT140_000201" "g.1618306C>T" "" "" "" "IFT140(NM_014714.3):c.1682G>A (p.(Ser561Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680423" "0" "50" "16" "1630775" "1630775" "subst" "6.90406E-5" "01943" "IFT140_000202" "g.1630775T>C" "" "" "" "IFT140(NM_014714.3):c.1509A>G (p.Q503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680424" "0" "50" "16" "1630786" "1630786" "subst" "1.21838E-5" "01943" "IFT140_000203" "g.1630786T>C" "" "" "" "IFT140(NM_014714.3):c.1498A>G (p.N500D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680428" "0" "30" "16" "1634225" "1634225" "subst" "0.00625292" "01804" "IFT140_000204" "g.1634225G>A" "" "" "" "IFT140(NM_014714.3):c.1352C>T (p.(Ala451Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680429" "0" "30" "16" "1634377" "1634377" "subst" "0.000127919" "01943" "IFT140_000205" "g.1634377G>A" "" "" "" "IFT140(NM_014714.3):c.1200C>T (p.S400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680430" "0" "30" "16" "1637998" "1637998" "subst" "0.0046429" "01804" "IFT140_000206" "g.1637998G>A" "" "" "" "IFT140(NM_014714.3):c.838C>T (p.(Arg280Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680431" "0" "50" "16" "1639733" "1639733" "subst" "6.09142E-5" "01943" "IFT140_000207" "g.1639733G>C" "" "" "" "IFT140(NM_014714.3):c.683C>G (p.S228C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691940" "0" "50" "16" "1570725" "1570725" "subst" "0" "01943" "IFT140_000208" "g.1570725A>G" "" "" "" "IFT140(NM_014714.3):c.3538T>C (p.S1180P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691941" "0" "30" "16" "1574777" "1574777" "subst" "0.000110498" "01804" "IFT140_000209" "g.1574777G>C" "" "" "" "IFT140(NM_014714.3):c.2997+8C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691953" "0" "30" "16" "1621443" "1621443" "subst" "0" "01943" "IFT140_000210" "g.1621443G>A" "" "" "" "IFT140(NM_014714.3):c.1617C>T (p.D539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691955" "0" "30" "16" "1639658" "1639658" "subst" "0.000893416" "02330" "IFT140_000211" "g.1639658C>T" "" "" "" "IFT140(NM_014714.3):c.758G>A (p.R253Q, p.(Arg253Gln)), IFT140(NM_014714.4):c.758G>A (p.R253Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725452" "0" "30" "16" "1545347" "1545347" "subst" "0.000102939" "01943" "IFT140_000216" "g.1545347C>A" "" "" "" "TELO2(NM_016111.3):c.336C>A (p.G112=), TELO2(NM_016111.4):c.336C>A (p.G112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725453" "0" "30" "16" "1545347" "1545347" "subst" "0.000102939" "02325" "IFT140_000216" "g.1545347C>A" "" "" "" "TELO2(NM_016111.3):c.336C>A (p.G112=), TELO2(NM_016111.4):c.336C>A (p.G112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725454" "0" "50" "16" "1545526" "1545526" "subst" "1.64406E-5" "02325" "IFT140_000217" "g.1545526A>T" "" "" "" "TELO2(NM_016111.4):c.515A>T (p.Q172L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725455" "0" "30" "16" "1555515" "1555515" "subst" "0.000159145" "01943" "IFT140_000218" "g.1555515C>T" "" "" "" "TELO2(NM_016111.3):c.1947C>T (p.A649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725456" "0" "30" "16" "1573546" "1573546" "subst" "0.000200008" "01943" "IFT140_000022" "g.1573546C>T" "" "" "" "IFT140(NM_014714.3):c.3426G>A (p.A1142=), IFT140(NM_014714.4):c.3426G>A (p.A1142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725457" "0" "50" "16" "1573583" "1573583" "subst" "4.06712E-6" "01943" "IFT140_000219" "g.1573583G>C" "" "" "" "IFT140(NM_014714.3):c.3389C>G (p.S1130C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725458" "0" "50" "16" "1573613" "1573613" "subst" "1.21953E-5" "02325" "IFT140_000220" "g.1573613G>A" "" "" "" "IFT140(NM_014714.3):c.3359C>T (p.(Thr1120Met)), IFT140(NM_014714.4):c.3359C>T (p.T1120M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725459" "0" "70" "16" "1573885" "1573885" "subst" "0" "01804" "IFT140_000081" "g.1573885G>A" "" "" "" "IFT140(NM_014714.3):c.3214C>T (p.R1072*, p.(Arg1072Ter)), IFT140(NM_014714.4):c.3214C>T (p.R1072*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725460" "0" "30" "16" "1576073" "1576073" "subst" "7.27931E-5" "01943" "IFT140_000140" "g.1576073G>A" "" "" "" "IFT140(NM_014714.3):c.2583C>T (p.D861=), IFT140(NM_014714.4):c.2583C>T (p.D861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725476" "0" "30" "16" "1616232" "1616232" "subst" "0.00079184" "01804" "IFT140_000042" "g.1616232C>T" "" "" "" "IFT140(NM_014714.3):c.1831G>A (p.V611I, p.(Val611Ile)), IFT140(NM_014714.4):c.1831G>A (p.V611I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725479" "0" "30" "16" "1621518" "1621518" "subst" "0.00419494" "02326" "IFT140_000044" "g.1621518G>T" "" "" "" "IFT140(NM_014714.3):c.1542C>A (p.L514=, p.(Leu514=)), IFT140(NM_014714.4):c.1542C>A (p.L514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725480" "0" "30" "16" "1621519" "1621519" "subst" "0.00419191" "02326" "IFT140_000046" "g.1621519A>T" "" "" "" "IFT140(NM_014714.3):c.1541T>A (p.L514H, p.(Leu514His)), IFT140(NM_014714.4):c.1541T>A (p.L514H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725488" "0" "70" "16" "1636231" "1636231" "del" "0" "01943" "IFT140_000223" "g.1636231del" "" "" "" "IFT140(NM_014714.3):c.1056delG (p.V354Yfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725489" "0" "90" "16" "1636247" "1636247" "subst" "4.07345E-6" "01943" "IFT140_000224" "g.1636247G>A" "" "" "" "IFT140(NM_014714.3):c.1039C>T (p.R347*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725490" "0" "50" "16" "1636265" "1636265" "subst" "7.3805E-5" "01943" "IFT140_000196" "g.1636265C>T" "" "" "" "IFT140(NM_014714.3):c.1021G>A (p.A341T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725491" "0" "30" "16" "1642572" "1642572" "subst" "0" "01943" "IFT140_000225" "g.1642572C>T" "" "" "" "IFT140(NM_014714.3):c.387G>A (p.L129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807074" "0" "30" "16" "1561125" "1561125" "subst" "0" "01943" "IFT140_000239" "g.1561125C>A" "" "" "" "IFT140(NM_014714.3):c.4209G>T (p.R1403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807075" "0" "30" "16" "1568274" "1568274" "subst" "3.65756E-5" "01943" "IFT140_000240" "g.1568274G>A" "" "" "" "IFT140(NM_014714.3):c.4125C>T (p.I1375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807076" "0" "30" "16" "1569929" "1569929" "subst" "0.00216072" "01943" "IFT140_000126" "g.1569929C>G" "" "" "" "IFT140(NM_014714.3):c.3993G>C (p.Q1331H, p.(Gln1331His)), IFT140(NM_014714.4):c.3993G>C (p.Q1331H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807077" "0" "10" "16" "1569934" "1569934" "subst" "0.00134738" "02326" "IFT140_000012" "g.1569934C>T" "" "" "" "IFT140(NM_014714.3):c.3988G>A (p.(Ala1330Thr)), IFT140(NM_014714.4):c.3988G>A (p.A1330T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807078" "0" "50" "16" "1569975" "1569980" "del" "0" "01804" "IFT140_000013" "g.1569975_1569980del" "" "" "" "IFT140(NM_014714.3):c.3955_3960del (p.(Ala1319_Lys1320del)), IFT140(NM_014714.3):c.3955_3960delGCCAAG (p.A1319_K1320del), IFT140(NM_014714.4):c.395..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807079" "0" "30" "16" "1574794" "1574794" "subst" "0.000636345" "01943" "IFT140_000135" "g.1574794A>G" "" "" "" "IFT140(NM_014714.3):c.2988T>C (p.N996=), IFT140(NM_014714.4):c.2988T>C (p.N996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807080" "0" "30" "16" "1575932" "1575932" "subst" "9.50666E-5" "02326" "IFT140_000241" "g.1575932G>A" "" "" "" "IFT140(NM_014714.4):c.2724C>T (p.A908=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807116" "0" "30" "16" "1636152" "1636152" "subst" "4.06858E-6" "01943" "IFT140_000242" "g.1636152T>C" "" "" "" "IFT140(NM_014714.3):c.1134A>G (p.Q378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807117" "0" "90" "16" "1637198" "1637198" "subst" "0" "01943" "IFT140_000243" "g.1637198C>G" "" "" "" "IFT140(NM_014714.3):c.1009+1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807118" "0" "50" "16" "1657140" "1657140" "subst" "6.9049E-5" "01943" "IFT140_000244" "g.1657140A>G" "" "" "" "IFT140(NM_014714.3):c.128T>C (p.V43A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854283" "0" "50" "16" "1561126" "1561128" "dup" "0" "01943" "IFT140_000071" "g.1561126_1561128dup" "" "" "" "IFT140(NM_014714.3):c.4214_4216dupGGC (p.R1405dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854284" "0" "50" "16" "1570721" "1570721" "subst" "0.000356944" "01943" "IFT140_000021" "g.1570721G>A" "" "" "" "IFT140(NM_014714.3):c.3542C>T (p.S1181L, p.(Ser1181Leu)), IFT140(NM_014714.4):c.3542C>T (p.S1181L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854285" "0" "50" "16" "1575940" "1575940" "subst" "2.72373E-5" "01943" "IFT140_000267" "g.1575940G>A" "" "" "" "IFT140(NM_014714.3):c.2716C>T (p.R906C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854297" "0" "30" "16" "1618339" "1618339" "subst" "6.93493E-5" "01943" "IFT140_000269" "g.1618339C>T" "" "" "" "IFT140(NM_014714.3):c.1653-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854303" "0" "90" "16" "1630771" "1630771" "subst" "2.03077E-5" "01943" "IFT140_000270" "g.1630771G>A" "" "" "" "IFT140(NM_014714.3):c.1513C>T (p.R505*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854304" "0" "30" "16" "1634386" "1634386" "subst" "0" "01943" "IFT140_000272" "g.1634386G>T" "" "" "" "IFT140(NM_014714.3):c.1191C>A (p.S397R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854305" "0" "50" "16" "1634417" "1634417" "subst" "2.21903E-5" "01943" "IFT140_000273" "g.1634417C>T" "" "" "" "IFT140(NM_014714.3):c.1160G>A (p.G387D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854306" "0" "50" "16" "1639688" "1639688" "subst" "0.000125888" "01943" "IFT140_000274" "g.1639688T>C" "" "" "" "IFT140(NM_014714.3):c.728A>G (p.E243G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864308" "0" "30" "16" "1568240" "1568240" "subst" "5.29113E-5" "01943" "IFT140_000265" "g.1568240C>T" "" "" "" "IFT140(NM_014714.3):c.4159G>A (p.V1387M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864309" "0" "30" "16" "1569929" "1569929" "subst" "0.00216072" "01804" "IFT140_000126" "g.1569929C>G" "" "" "" "IFT140(NM_014714.3):c.3993G>C (p.Q1331H, p.(Gln1331His)), IFT140(NM_014714.4):c.3993G>C (p.Q1331H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864310" "0" "30" "16" "1570262" "1570262" "subst" "0.00475092" "01804" "IFT140_000016" "g.1570262A>G" "" "" "" "IFT140(NM_014714.3):c.3743T>C (p.I1248T, p.(Ile1248Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864311" "0" "50" "16" "1573634" "1573634" "subst" "0" "01804" "IFT140_000077" "g.1573634A>G" "" "" "" "IFT140(NM_014714.3):c.3338T>C (p.(Ile1113Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864312" "0" "90" "16" "1573885" "1573885" "subst" "0" "01943" "IFT140_000081" "g.1573885G>A" "" "" "" "IFT140(NM_014714.3):c.3214C>T (p.R1072*, p.(Arg1072Ter)), IFT140(NM_014714.4):c.3214C>T (p.R1072*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864313" "0" "50" "16" "1574783" "1574783" "subst" "0" "01804" "IFT140_000266" "g.1574783A>G" "" "" "" "IFT140(NM_014714.3):c.2997+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864314" "0" "30" "16" "1576636" "1576636" "subst" "0.000793394" "02330" "IFT140_000268" "g.1576636G>A" "" "" "" "IFT140(NM_014714.4):c.2561C>T (p.T854M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864329" "0" "90" "16" "1607935" "1607935" "subst" "6.09102E-5" "01804" "IFT140_000006" "g.1607935C>A" "" "" "" "IFT140(NM_014714.3):c.2399+1G>T (p.?), IFT140(NM_014714.4):c.2399+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864337" "0" "90" "16" "1630833" "1630833" "subst" "2.84384E-5" "02330" "IFT140_000189" "g.1630833G>A" "" "" "" "IFT140(NM_014714.4):c.1451C>T (p.T484M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864339" "0" "30" "16" "1634198" "1634198" "subst" "8.02148E-5" "02330" "IFT140_000271" "g.1634198C>T" "" "" "" "IFT140(NM_014714.4):c.1359+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864341" "0" "30" "16" "1639658" "1639658" "subst" "0.000893416" "01943" "IFT140_000211" "g.1639658C>T" "" "" "" "IFT140(NM_014714.3):c.758G>A (p.R253Q, p.(Arg253Gln)), IFT140(NM_014714.4):c.758G>A (p.R253Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864342" "0" "30" "16" "1642469" "1642469" "subst" "4.06722E-6" "01804" "IFT140_000275" "g.1642469C>T" "" "" "" "IFT140(NM_014714.3):c.490G>A (p.(Glu164Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864343" "0" "30" "16" "1652546" "1652546" "subst" "8.1279E-5" "01943" "IFT140_000276" "g.1652546G>A" "" "" "" "IFT140(NM_014714.3):c.194C>T (p.A65V), IFT140(NM_014714.4):c.194C>T (p.(Ala65Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892542" "0" "50" "16" "1568341" "1568341" "subst" "8.1491E-6" "01804" "IFT140_000278" "g.1568341G>C" "" "" "" "IFT140(NM_014714.3):c.4058C>G (p.(Pro1353Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892543" "0" "10" "16" "1570321" "1570321" "subst" "0.000150351" "02326" "IFT140_000130" "g.1570321G>A" "" "" "" "IFT140(NM_014714.4):c.3684C>T (p.S1228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892544" "0" "90" "16" "1574796" "1574796" "del" "0" "02326" "IFT140_000279" "g.1574796del" "" "" "" "IFT140(NM_014714.3):c.2987del (p.(Asn996MetfsTer8)), IFT140(NM_014714.4):c.2987delA (p.N996Mfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892545" "0" "30" "16" "1576005" "1576005" "subst" "9.05592E-5" "01804" "IFT140_000280" "g.1576005C>T" "" "" "" "IFT140(NM_014714.3):c.2651G>A (p.(Arg884Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892546" "0" "30" "16" "1576628" "1576628" "subst" "0.00310376" "02326" "IFT140_000141" "g.1576628C>T" "" "" "" "IFT140(NM_014714.3):c.2569G>A (p.G857S, p.(Gly857Ser)), IFT140(NM_014714.4):c.2569G>A (p.G857S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892547" "0" "10" "16" "1576647" "1576647" "subst" "0.00132766" "02326" "IFT140_000170" "g.1576647G>A" "" "" "" "IFT140(NM_014714.4):c.2550C>T (p.A850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892567" "0" "90" "16" "1607935" "1607935" "subst" "6.09102E-5" "02326" "IFT140_000006" "g.1607935C>A" "" "" "" "IFT140(NM_014714.3):c.2399+1G>T (p.?), IFT140(NM_014714.4):c.2399+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892568" "0" "30" "16" "1608088" "1608088" "subst" "0.000869" "02330" "IFT140_000281" "g.1608088G>A" "" "" "" "IFT140(NM_014714.4):c.2247C>T (p.H749=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892571" "0" "50" "16" "1613993" "1613993" "subst" "6.97393E-5" "01804" "IFT140_000214" "g.1613993C>T" "" "" "" "IFT140(NM_014714.3):c.2067+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892572" "0" "30" "16" "1614132" "1614132" "subst" "0.000320318" "02326" "IFT140_000282" "g.1614132T>C" "" "" "" "IFT140(NM_014714.4):c.1933A>G (p.N645D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892573" "0" "70" "16" "1614157" "1614157" "del" "0" "01804" "IFT140_000283" "g.1614157del" "" "" "" "IFT140(NM_014714.3):c.1909del (p.(Leu637Serfs*7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892574" "0" "30" "16" "1616239" "1616239" "subst" "0.000966443" "02326" "IFT140_000146" "g.1616239T>C" "" "" "" "IFT140(NM_014714.3):c.1824A>G (p.T608=), IFT140(NM_014714.4):c.1824A>G (p.T608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892583" "0" "50" "16" "1630770" "1630770" "subst" "4.06157E-6" "01804" "IFT140_000103" "g.1630770C>T" "" "" "" "IFT140(NM_014714.3):c.1514G>A (p.(Arg505Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892585" "0" "50" "16" "1637271" "1637271" "subst" "1.62476E-5" "01804" "IFT140_000284" "g.1637271G>C" "" "" "" "IFT140(NM_014714.3):c.937C>G (p.(Leu313Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892586" "0" "70" "16" "1642172" "1642172" "subst" "8.12618E-6" "02327" "IFT140_000255" "g.1642172C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892587" "0" "70" "16" "1642177" "1642177" "subst" "5.28069E-5" "02327" "IFT140_000231" "g.1642177C>T" "" "" "" "IFT140(NM_014714.4):c.634G>A (p.G212R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892588" "0" "30" "16" "1652427" "1652427" "subst" "4.06279E-6" "01804" "IFT140_000285" "g.1652427C>T" "" "" "" "IFT140(NM_014714.3):c.313G>A (p.(Asp105Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914468" "0" "30" "16" "1561037" "1561037" "subst" "0.000828865" "02326" "IFT140_000062" "g.1561037G>A" "" "" "" "IFT140(NM_014714.3):c.4297C>T (p.R1433C, p.(Arg1433Cys)), IFT140(NM_014714.4):c.4297C>T (p.R1433C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914469" "0" "30" "16" "1570312" "1570312" "subst" "0.000312767" "02326" "IFT140_000018" "g.1570312C>T" "" "" "" "IFT140(NM_014714.3):c.3693G>A (p.T1231=, p.(Thr1231=)), IFT140(NM_014714.4):c.3693G>A (p.T1231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914470" "0" "50" "16" "1573942" "1573942" "subst" "6.9723E-5" "01804" "IFT140_000286" "g.1573942C>T" "" "" "" "IFT140(NM_014714.3):c.3157G>A (p.(Asp1053Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914471" "0" "30" "16" "1574590" "1574590" "subst" "7.84877E-5" "02326" "IFT140_000025" "g.1574590C>T" "" "" "" "IFT140(NM_014714.3):c.3104G>A (p.R1035Q, p.(Arg1035Gln)), IFT140(NM_014714.4):c.3104G>A (p.R1035Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914472" "0" "50" "16" "1576669" "1576669" "subst" "0.000304744" "01804" "IFT140_000095" "g.1576669G>A" "" "" "" "IFT140(NM_014714.3):c.2528C>T (p.(Pro843Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914483" "0" "90" "16" "1618336" "1618337" "del" "0" "02326" "IFT140_000188" "g.1618336_1618337del" "" "" "" "IFT140(NM_014714.4):c.1655_1656delAG (p.E552Gfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914492" "0" "30" "16" "1634241" "1634241" "subst" "0.00189981" "01804" "IFT140_000047" "g.1634241T>C" "" "" "" "IFT140(NM_014714.3):c.1336A>G (p.I446V, p.(Ile446Val)), IFT140(NM_014714.4):c.1336A>G (p.I446V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914493" "0" "30" "16" "1634241" "1634241" "subst" "0.00189981" "02326" "IFT140_000047" "g.1634241T>C" "" "" "" "IFT140(NM_014714.3):c.1336A>G (p.I446V, p.(Ile446Val)), IFT140(NM_014714.4):c.1336A>G (p.I446V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926132" "0" "30" "16" "1570621" "1570621" "subst" "0" "02330" "IFT140_000288" "g.1570621C>T" "" "" "" "IFT140(NM_014714.4):c.3642G>A (p.Q1214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926133" "0" "90" "16" "1573885" "1573885" "subst" "0" "02326" "IFT140_000081" "g.1573885G>A" "" "" "" "IFT140(NM_014714.3):c.3214C>T (p.R1072*, p.(Arg1072Ter)), IFT140(NM_014714.4):c.3214C>T (p.R1072*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926134" "0" "30" "16" "1575995" "1575995" "subst" "0" "01804" "IFT140_000289" "g.1575995C>A" "" "" "" "IFT140(NM_014714.3):c.2661G>T (p.(Glu887Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926135" "0" "50" "16" "1576751" "1576751" "subst" "0.000253942" "01804" "IFT140_000096" "g.1576751G>A" "" "" "" "IFT140(NM_014714.3):c.2446C>T (p.(Arg816Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926148" "0" "30" "16" "1611967" "1611967" "subst" "5.29451E-5" "02330" "IFT140_000290" "g.1611967G>A" "" "" "" "IFT140(NM_014714.4):c.2199+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926149" "0" "30" "16" "1616232" "1616232" "subst" "0.00079184" "02326" "IFT140_000042" "g.1616232C>T" "" "" "" "IFT140(NM_014714.3):c.1831G>A (p.V611I, p.(Val611Ile)), IFT140(NM_014714.4):c.1831G>A (p.V611I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926150" "0" "90" "16" "1621495" "1621495" "subst" "0.000129975" "02326" "IFT140_000003" "g.1621495C>T" "" "" "" "IFT140(NM_014714.3):c.1565G>A (p.G522E), IFT140(NM_014714.4):c.1565G>A (p.G522E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926152" "0" "30" "16" "1633330" "1633330" "subst" "0.000117877" "01804" "IFT140_000291" "g.1633330C>T" "" "" "" "IFT140(NM_014714.3):c.1417G>A (p.(Ala473Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926153" "0" "30" "16" "1634269" "1634269" "subst" "8.1485E-6" "02330" "IFT140_000292" "g.1634269G>A" "" "" "" "IFT140(NM_014714.4):c.1308C>T (p.V436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926154" "0" "50" "16" "1637198" "1637198" "subst" "0" "01804" "IFT140_000066" "g.1637198C>A" "" "" "" "IFT140(NM_014714.3):c.1009+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930505" "0" "30" "16" "1569929" "1569929" "subst" "0.00216072" "02326" "IFT140_000126" "g.1569929C>G" "" "" "" "IFT140(NM_014714.3):c.3993G>C (p.Q1331H, p.(Gln1331His)), IFT140(NM_014714.4):c.3993G>C (p.Q1331H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930511" "0" "10" "16" "1608005" "1608005" "subst" "0.00277336" "02326" "IFT140_000293" "g.1608005A>C" "" "" "" "IFT140(NM_014714.3):c.2330T>G (p.(Leu777Arg)), IFT140(NM_014714.4):c.2330T>G (p.L777R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930512" "0" "90" "16" "1614102" "1614102" "subst" "0" "02326" "IFT140_000294" "g.1614102G>A" "" "" "" "IFT140(NM_014714.4):c.1963C>T (p.Q655*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930513" "0" "90" "16" "1633370" "1633370" "subst" "8.12883E-5" "02327" "IFT140_000190" "g.1633370C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950511" "0" "70" "16" "1550445" "1550445" "subst" "0.000175433" "02329" "TELO2_000006" "g.1550445G>T" "" "" "" "TELO2(NM_016111.4):c.1100G>T (p.C367F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950512" "0" "70" "16" "1557606" "1557606" "subst" "0.000125895" "02329" "TELO2_000007" "g.1557606G>A" "" "" "" "TELO2(NM_016111.4):c.2296G>A (p.V766M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950513" "0" "30" "16" "1570624" "1570624" "subst" "8.78247E-5" "02330" "IFT140_000167" "g.1570624C>T" "" "" "" "IFT140(NM_014714.3):c.3639G>A (p.T1213=), IFT140(NM_014714.4):c.3639G>A (p.T1213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950526" "0" "30" "16" "1616275" "1616275" "subst" "0.000617244" "02326" "IFT140_000043" "g.1616275A>G" "" "" "" "IFT140(NM_014714.3):c.1788T>C (p.D596=, p.(Asp596=)), IFT140(NM_014714.4):c.1788T>C (p.D596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968135" "0" "70" "16" "1642177" "1642177" "subst" "5.28069E-5" "02326" "IFT140_000231" "g.1642177C>T" "" "" "" "IFT140(NM_014714.4):c.634G>A (p.G212R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981613" "0" "30" "16" "1551781" "1551781" "subst" "0" "01804" "IFT140_000297" "g.1551781G>A" "" "" "" "TELO2(NM_016111.4):c.1472+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981614" "0" "50" "16" "1560953" "1560953" "subst" "0.000157454" "01804" "IFT140_000298" "g.1560953C>T" "" "" "" "IFT140(NM_014714.4):c.4381G>A (p.(Asp1461Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981615" "0" "30" "16" "1567852" "1567852" "subst" "0" "01804" "IFT140_000299" "g.1567852C>T" "" "" "" "IFT140(NM_014714.4):c.4182+365G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981616" "0" "50" "16" "1574553" "1574553" "subst" "0" "01804" "IFT140_000300" "g.1574553C>T" "" "" "" "IFT140(NM_014714.4):c.3141G>A (p.(Lys1047=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981617" "0" "50" "16" "1574651" "1574651" "subst" "4.35123E-6" "01804" "IFT140_000301" "g.1574651G>T" "" "" "" "IFT140(NM_014714.4):c.3043C>A (p.(His1015Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981618" "0" "70" "16" "1574796" "1574796" "del" "0" "01804" "IFT140_000279" "g.1574796del" "" "" "" "IFT140(NM_014714.3):c.2987del (p.(Asn996MetfsTer8)), IFT140(NM_014714.4):c.2987delA (p.N996Mfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981619" "0" "50" "16" "1575323" "1575323" "subst" "6.141E-5" "01804" "IFT140_000302" "g.1575323C>T" "" "" "" "IFT140(NM_014714.4):c.2773G>A (p.(Glu925Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981644" "0" "50" "16" "1607975" "1607975" "subst" "0.000207088" "01804" "IFT140_000304" "g.1607975T>C" "" "" "" "IFT140(NM_014714.4):c.2360A>G (p.(Asp787Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981645" "0" "50" "16" "1608018" "1608018" "subst" "2.03029E-5" "01804" "IFT140_000097" "g.1608018G>A" "" "" "" "IFT140(NM_014714.4):c.2317C>T (p.(Arg773Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981647" "0" "50" "16" "1621521" "1621521" "subst" "0" "01804" "IFT140_000306" "g.1621521T>G" "" "" "" "IFT140(NM_014714.4):c.1539A>C (p.(Gln513His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981659" "0" "70" "16" "1633325" "1633326" "ins" "0" "01804" "IFT140_000195" "g.1633325_1633326insTT" "" "" "" "IFT140(NM_014714.3):c.1422_1423insAA (p.(Arg475AsnfsTer14))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981660" "0" "50" "16" "1634273" "1634273" "subst" "6.92385E-5" "01804" "IFT140_000048" "g.1634273C>T" "" "" "" "IFT140(NM_014714.3):c.1304G>A (p.G435E), IFT140(NM_014714.4):c.1304G>A (p.(Gly435Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981661" "0" "50" "16" "1652513" "1652513" "subst" "0" "01804" "IFT140_000307" "g.1652513A>G" "" "" "" "IFT140(NM_014714.4):c.227T>C (p.(Leu76Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001906" "0" "50" "16" "1545523" "1545523" "subst" "0" "02327" "IFT140_000308" "g.1545523T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001907" "0" "50" "16" "1560989" "1560989" "subst" "0" "01804" "IFT140_000309" "g.1560989C>T" "" "" "" "IFT140(NM_014714.3):c.4345G>A (p.(Glu1449Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001908" "0" "30" "16" "1569871" "1569871" "subst" "0.00532764" "01804" "IFT140_000310" "g.1569871C>T" "" "" "" "IFT140(NM_014714.3):c.4040+11G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001909" "0" "30" "16" "1569872" "1569872" "subst" "0.00399486" "01804" "IFT140_000011" "g.1569872G>A" "" "" "" "IFT140(NM_014714.3):c.4040+10C>T (p.(=)), IFT140(NM_014714.4):c.4040+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001910" "0" "50" "16" "1569942" "1569942" "subst" "4.20925E-6" "01804" "IFT140_000311" "g.1569942G>T" "" "" "" "IFT140(NM_014714.3):c.3980C>A (p.(Thr1327Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001911" "0" "50" "16" "1573613" "1573613" "subst" "1.21953E-5" "01804" "IFT140_000220" "g.1573613G>A" "" "" "" "IFT140(NM_014714.3):c.3359C>T (p.(Thr1120Met)), IFT140(NM_014714.4):c.3359C>T (p.T1120M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001943" "0" "50" "16" "1614090" "1614090" "subst" "4.0848E-5" "01804" "IFT140_000144" "g.1614090G>A" "" "" "" "IFT140(NM_014714.3):c.1975C>T (p.R659W, p.(Arg659Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001944" "0" "90" "16" "1614102" "1614102" "subst" "0" "02327" "IFT140_000294" "g.1614102G>A" "" "" "" "IFT140(NM_014714.4):c.1963C>T (p.Q655*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001973" "0" "70" "16" "1637198" "1637198" "subst" "0" "01804" "IFT140_000243" "g.1637198C>G" "" "" "" "IFT140(NM_014714.3):c.1009+1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001001974" "0" "30" "16" "1637986" "1637986" "subst" "1.22227E-5" "01804" "IFT140_000312" "g.1637986C>T" "" "" "" "IFT140(NM_014714.3):c.850G>A (p.(Ala284Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001975" "0" "30" "16" "1642549" "1642549" "subst" "0.000264097" "01804" "IFT140_000056" "g.1642549C>T" "" "" "" "IFT140(NM_014714.3):c.410G>A (p.R137Q, p.(Arg137Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015292" "0" "10" "16" "1560954" "1560954" "subst" "0.00492433" "01804" "IFT140_000313" "g.1560954G>A" "" "" "" "IFT140(NM_014714.3):c.4380C>T (p.(Asp1460=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015293" "0" "30" "16" "1569932" "1569932" "subst" "0.00529356" "01804" "IFT140_000314" "g.1569932C>T" "" "" "" "IFT140(NM_014714.3):c.3990G>A (p.(Ala1330=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015294" "0" "50" "16" "1575310" "1575310" "subst" "4.0835E-5" "01804" "IFT140_000086" "g.1575310G>A" "" "" "" "IFT140(NM_014714.3):c.2786C>T (p.(Thr929Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015295" "0" "50" "16" "1576655" "1576655" "subst" "0.000272387" "02327" "IFT140_000094" "g.1576655G>A" "" "" "" "IFT140(NM_014714.4):c.2542C>T (p.(Arg848Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015296" "0" "30" "16" "1576743" "1576743" "subst" "0.00766267" "01804" "IFT140_000315" "g.1576743G>A" "" "" "" "IFT140(NM_014714.3):c.2454C>T (p.(Asp818=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015304" "0" "50" "16" "1618262" "1618262" "subst" "2.06415E-5" "01804" "IFT140_000316" "g.1618262G>A" "" "" "" "IFT140(NM_014714.3):c.1726C>T (p.(Arg576Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015307" "0" "10" "16" "1642333" "1642333" "subst" "0.00592873" "01804" "IFT140_000317" "g.1642333C>T" "" "" "" "IFT140(NM_014714.3):c.492-14G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015308" "0" "30" "16" "1642339" "1642339" "subst" "0.000735641" "01804" "IFT140_000055" "g.1642339G>A" "" "" "" "IFT140(NM_014714.3):c.492-20C>T (p.(=)), IFT140(NM_014714.4):c.492-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026565" "0" "30" "16" "1570312" "1570312" "subst" "0.000312767" "01804" "IFT140_000018" "g.1570312C>T" "" "" "" "IFT140(NM_014714.3):c.3693G>A (p.T1231=, p.(Thr1231=)), IFT140(NM_014714.4):c.3693G>A (p.T1231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026577" "0" "30" "16" "1616275" "1616275" "subst" "0.000617244" "01804" "IFT140_000043" "g.1616275A>G" "" "" "" "IFT140(NM_014714.3):c.1788T>C (p.D596=, p.(Asp596=)), IFT140(NM_014714.4):c.1788T>C (p.D596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040789" "0" "50" "16" "1544271" "1544271" "subst" "3.68825E-5" "01804" "IFT140_000318" "g.1544271C>A" "" "" "" "TELO2(NM_016111.4):c.-12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040790" "0" "50" "16" "1549311" "1549311" "subst" "0.00025596" "01804" "IFT140_000319" "g.1549311C>T" "" "" "" "TELO2(NM_016111.4):c.910C>T (p.(Leu304=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040791" "0" "50" "16" "1550374" "1550374" "subst" "0" "01804" "IFT140_000320" "g.1550374G>A" "" "" "" "TELO2(NM_016111.4):c.1029G>A (p.(Trp343*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040792" "0" "50" "16" "1550474" "1550474" "subst" "0.000131591" "01804" "IFT140_000321" "g.1550474C>T" "" "" "" "TELO2(NM_016111.4):c.1129C>T (p.(Arg377Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040793" "0" "50" "16" "1551424" "1551424" "subst" "5.3542E-5" "01804" "IFT140_000322" "g.1551424G>A" "" "" "" "TELO2(NM_016111.4):c.1285G>A (p.(Glu429Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040794" "0" "50" "16" "1556276" "1556276" "subst" "4.07461E-6" "01804" "IFT140_000323" "g.1556276G>A" "" "" "" "TELO2(NM_016111.4):c.2072G>A (p.(Arg691Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040795" "0" "70" "16" "1557372" "1557372" "subst" "4.11455E-6" "01804" "IFT140_000324" "g.1557372G>A" "" "" "" "TELO2(NM_016111.4):c.2291+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040796" "0" "30" "16" "1567109" "1567109" "subst" "0" "01804" "IFT140_000325" "g.1567109C>T" "" "" "" "IFT140(NM_014714.4):c.4182+1108G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040797" "0" "30" "16" "1569934" "1569934" "subst" "0.00134738" "01804" "IFT140_000012" "g.1569934C>T" "" "" "" "IFT140(NM_014714.3):c.3988G>A (p.(Ala1330Thr)), IFT140(NM_014714.4):c.3988G>A (p.A1330T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040798" "0" "70" "16" "1569942" "1569942" "del" "0" "01804" "IFT140_000326" "g.1569942del" "" "" "" "IFT140(NM_014714.4):c.3981del (p.(Arg1328Glyfs*12))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040799" "0" "50" "16" "1570616" "1570616" "subst" "0" "01804" "IFT140_000327" "g.1570616C>T" "" "" "" "IFT140(NM_014714.4):c.3647G>A (p.(Gly1216Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040800" "0" "50" "16" "1573645" "1573647" "dup" "0" "01804" "IFT140_000328" "g.1573645_1573647dup" "" "" "" "IFT140(NM_014714.4):c.3325_3327dup (p.(Ala1109dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040801" "0" "70" "16" "1574667" "1574667" "del" "0" "01804" "IFT140_000329" "g.1574667del" "" "" "" "IFT140(NM_014714.4):c.3028del (p.(Leu1010TrpfsTer47))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040802" "0" "30" "16" "1574688" "1574688" "subst" "8.93471E-6" "01804" "IFT140_000330" "g.1574688T>C" "" "" "" "IFT140(NM_014714.4):c.3006A>G (p.(Gln1002=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040803" "0" "30" "16" "1574692" "1574692" "subst" "1.33972E-5" "01804" "IFT140_000331" "g.1574692G>A" "" "" "" "IFT140(NM_014714.3):c.3002C>T (p.(Ala1001Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040804" "0" "70" "16" "1575231" "1575231" "subst" "0" "01804" "IFT140_000332" "g.1575231C>T" "" "" "" "IFT140(NM_014714.3):c.2864+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040805" "0" "70" "16" "1575889" "1575892" "del" "0" "01804" "IFT140_000333" "g.1575889_1575892del" "" "" "" "IFT140(NM_014714.3):c.2767_2768+2del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040807" "0" "50" "16" "1576655" "1576655" "subst" "0.000272387" "01804" "IFT140_000094" "g.1576655G>A" "" "" "" "IFT140(NM_014714.4):c.2542C>T (p.(Arg848Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040808" "0" "50" "16" "1576705" "1576705" "subst" "8.83712E-6" "01804" "IFT140_000334" "g.1576705C>T" "" "" "" "IFT140(NM_014714.4):c.2492G>A (p.(Arg831His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040809" "0" "50" "16" "1576771" "1576771" "subst" "2.10642E-5" "01804" "IFT140_000335" "g.1576771C>T" "" "" "" "IFT140(NM_014714.4):c.2426G>A (p.(Arg809His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040827" "0" "50" "16" "1614081" "1614081" "subst" "1.63256E-5" "01804" "IFT140_000336" "g.1614081C>T" "" "" "" "IFT140(NM_014714.4):c.1984G>A (p.(Val662Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040828" "0" "50" "16" "1621414" "1621414" "subst" "7.85793E-5" "01804" "IFT140_000337" "g.1621414G>A" "" "" "" "IFT140(NM_014714.4):c.1646C>T (p.(Ser549Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040829" "0" "50" "16" "1621518" "1621518" "subst" "0.00419494" "01804" "IFT140_000044" "g.1621518G>T" "" "" "" "IFT140(NM_014714.3):c.1542C>A (p.L514=, p.(Leu514=)), IFT140(NM_014714.4):c.1542C>A (p.L514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040842" "0" "30" "16" "1634209" "1634209" "subst" "8.26754E-6" "01804" "IFT140_000338" "g.1634209G>A" "" "" "" "IFT140(NM_014714.4):c.1359+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040843" "0" "50" "16" "1636187" "1636187" "subst" "8.12552E-6" "01804" "IFT140_000339" "g.1636187C>T" "" "" "" "IFT140(NM_014714.4):c.1099G>A (p.(Asp367Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040844" "0" "50" "16" "1636246" "1636246" "subst" "1.22185E-5" "01804" "IFT140_000340" "g.1636246C>T" "" "" "" "IFT140(NM_014714.4):c.1040G>A (p.(Arg347Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040845" "0" "90" "16" "1636277" "1636277" "subst" "3.70782E-5" "01804" "IFT140_000256" "g.1636277C>T" "" "" "" "IFT140(NM_014714.4):c.1010-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040846" "0" "30" "16" "1638043" "1638043" "subst" "3.32491E-5" "02326" "IFT140_000341" "g.1638043C>T" "" "" "" "IFT140(NM_014714.4):c.811-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040847" "0" "30" "16" "1642178" "1642178" "subst" "2.84329E-5" "01804" "IFT140_000342" "g.1642178G>A" "" "" "" "IFT140(NM_014714.4):c.633C>T (p.(Asp211=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040848" "0" "50" "16" "1642227" "1642227" "subst" "4.06081E-6" "01804" "IFT140_000176" "g.1642227A>G" "" "" "" "IFT140(NM_014714.3):c.584T>C (p.L195P), IFT140(NM_014714.4):c.584T>C (p.(Leu195Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040849" "0" "30" "16" "1652546" "1652546" "subst" "8.1279E-5" "01804" "IFT140_000276" "g.1652546G>A" "" "" "" "IFT140(NM_014714.3):c.194C>T (p.A65V), IFT140(NM_014714.4):c.194C>T (p.(Ala65Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046534" "0" "90" "16" "1573885" "1573885" "subst" "0" "02327" "IFT140_000081" "g.1573885G>A" "" "" "" "IFT140(NM_014714.3):c.3214C>T (p.R1072*, p.(Arg1072Ter)), IFT140(NM_014714.4):c.3214C>T (p.R1072*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046536" "0" "50" "16" "1637288" "1637288" "subst" "6.09484E-5" "02325" "IFT140_000343" "g.1637288C>T" "" "" "" "IFT140(NM_014714.4):c.920G>A (p.R307Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055320" "0" "50" "16" "1556969" "1556969" "subst" "0" "01804" "IFT140_000344" "g.1556969G>C" "" "" "" "TELO2(NM_016111.4):c.2143G>C (p.(Asp715His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055321" "0" "50" "16" "1556983" "1556985" "del" "0" "01804" "IFT140_000345" "g.1556983_1556985del" "" "" "" "TELO2(NM_016111.4):c.2157_2159del (p.(Glu719del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055322" "0" "50" "16" "1570310" "1570310" "subst" "0" "01804" "IFT140_000346" "g.1570310T>G" "" "" "" "IFT140(NM_014714.4):c.3695A>C (p.(Glu1232Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055323" "0" "50" "16" "1570738" "1570738" "subst" "2.04879E-5" "01804" "IFT140_000131" "g.1570738G>C" "" "" "" "IFT140(NM_014714.3):c.3525C>G (p.(Thr1175=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055324" "0" "50" "16" "1576628" "1576628" "subst" "0" "01804" "IFT140_000347" "g.1576628C>G" "" "" "" "IFT140(NM_014714.4):c.2569G>C (p.(Gly857Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055325" "0" "30" "16" "1608005" "1608005" "subst" "0.00277336" "01804" "IFT140_000293" "g.1608005A>C" "" "" "" "IFT140(NM_014714.3):c.2330T>G (p.(Leu777Arg)), IFT140(NM_014714.4):c.2330T>G (p.L777R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055326" "0" "50" "16" "1612095" "1612095" "subst" "0" "01804" "IFT140_000142" "g.1612095A>G" "" "" "" "IFT140(NM_014714.4):c.2090T>C (p.F697S, p.(Phe697Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055327" "0" "30" "16" "1639658" "1639658" "subst" "0.000893416" "01804" "IFT140_000211" "g.1639658C>T" "" "" "" "IFT140(NM_014714.3):c.758G>A (p.R253Q, p.(Arg253Gln)), IFT140(NM_014714.4):c.758G>A (p.R253Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055328" "0" "50" "16" "1652553" "1652553" "subst" "3.65976E-5" "01804" "IFT140_000115" "g.1652553G>A" "" "" "" "IFT140(NM_014714.4):c.187C>T (p.(Arg63Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066329" "0" "30" "16" "1570059" "1570059" "subst" "0.00169344" "01804" "IFT140_000014" "g.1570059G>A" "" "" "" "IFT140(NM_014714.3):c.3874-11C>T (p.(=)), IFT140(NM_014714.4):c.3874-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066330" "0" "30" "16" "1570590" "1570590" "subst" "5.59522E-5" "01804" "IFT140_000350" "g.1570590G>A" "" "" "" "IFT140(NM_014714.3):c.3660+13C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066331" "0" "50" "16" "1570721" "1570721" "subst" "0.000356944" "01804" "IFT140_000021" "g.1570721G>A" "" "" "" "IFT140(NM_014714.3):c.3542C>T (p.S1181L, p.(Ser1181Leu)), IFT140(NM_014714.4):c.3542C>T (p.S1181L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066332" "0" "50" "16" "1573864" "1573864" "subst" "1.63156E-5" "02325" "IFT140_000351" "g.1573864C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066333" "0" "50" "16" "1575216" "1575216" "subst" "0" "01804" "IFT140_000352" "g.1575216T>C" "" "" "" "IFT140(NM_014714.3):c.2864+16A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066334" "0" "90" "16" "1607935" "1607935" "subst" "6.09102E-5" "02325" "IFT140_000006" "g.1607935C>A" "" "" "" "IFT140(NM_014714.3):c.2399+1G>T (p.?), IFT140(NM_014714.4):c.2399+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001066335" "0" "50" "16" "1642537" "1642537" "subst" "8.1242E-6" "02325" "IFT140_000353" "g.1642537G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066336" "0" "50" "16" "1657140" "1657140" "subst" "6.9049E-5" "02325" "IFT140_000244" "g.1657140A>G" "" "" "" "IFT140(NM_014714.3):c.128T>C (p.V43A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066337" "0" "50" "16" "1657257" "1657257" "subst" "0" "02325" "IFT140_000354" "g.1657257T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066338" "0" "30" "16" "1661936" "1661936" "subst" "0" "02325" "CRAMP1L_000006" "g.1661936C>T" "" "" "" "" "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 TELO2 ## Count = 351 "{{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}}" "0000097140" "00020970" "90" "1100" "0" "1100" "0" "c.1100G>T" "r.(?)" "p.(Cys367Phe)" "8" "0000097141" "00020970" "90" "2159" "0" "2159" "0" "c.2159A>T" "r.(?)" "p.(Asp720Val)" "18" "0000097142" "00020970" "90" "1100" "0" "1100" "0" "c.1100G>T" "r.(?)" "p.(Cys367Phe)" "8" "0000097143" "00020970" "90" "2159" "0" "2159" "0" "c.2159A>T" "r.(?)" "p.(Asp720Val)" "18" "0000097144" "00020970" "90" "1100" "0" "1100" "0" "c.1100G>T" "r.(?)" "p.(Cys367Phe)" "8" "0000097145" "00020970" "90" "2159" "0" "2159" "0" "c.2159A>T" "r.(?)" "p.(Asp720Val)" "18" "0000097146" "00020970" "90" "1100" "0" "1100" "0" "c.1100G>T" "r.(?)" "p.(Cys367Phe)" "8" "0000097147" "00020970" "90" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Val766Met)" "20" "0000097148" "00020970" "90" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Pro260Leu)" "5" "0000097149" "00020970" "90" "1826" "0" "1826" "0" "c.1826G>A" "r.(?)" "p.(Arg609His)" "15" "0000097150" "00020970" "90" "2034" "1" "2034" "1" "c.2034+1G>A" "r.spl" "p.?" "16i" "0000097151" "00020970" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Gln172*)" "3" "0000097152" "00020970" "90" "2159" "0" "2159" "0" "c.2159A>T" "r.(?)" "p.(Asp720Val)" "18" "0000247970" "00020970" "10" "56674" "0" "56674" "0" "c.*54160A>G" "r.(=)" "p.(=)" "" "0000248025" "00020970" "10" "16387" "0" "16387" "0" "c.*13873A>G" "r.(=)" "p.(=)" "" "0000253231" "00020970" "10" "56674" "0" "56674" "0" "c.*54160A>G" "r.(=)" "p.(=)" "" "0000253286" "00020970" "10" "16387" "0" "16387" "0" "c.*13873A>G" "r.(=)" "p.(=)" "" "0000253480" "00020970" "10" "50659" "0" "50659" "0" "c.*48145A>G" "r.(=)" "p.(=)" "" "0000254258" "00020970" "30" "58852" "0" "58852" "0" "c.*56338A>G" "r.(=)" "p.(=)" "" "0000255997" "00020970" "50" "12839" "0" "12839" "0" "c.*10325A>G" "r.(=)" "p.(=)" "" "0000277851" "00020970" "10" "64095" "0" "64095" "0" "c.*61581G>T" "r.(=)" "p.(=)" "" "0000277852" "00020970" "10" "58809" "0" "58809" "0" "c.*56295C>T" "r.(=)" "p.(=)" "" "0000277853" "00020970" "10" "56571" "0" "56571" "0" "c.*54057G>A" "r.(=)" "p.(=)" "" "0000277854" "00020970" "10" "34539" "0" "34539" "0" "c.*32025G>A" "r.(=)" "p.(=)" "" "0000277855" "00020970" "10" "34664" "0" "34664" "0" "c.*32150T>C" "r.(=)" "p.(=)" "" "0000277856" "00020970" "10" "26871" "0" "26871" "0" "c.*24357C>T" "r.(=)" "p.(=)" "" "0000277857" "00020970" "10" "18572" "0" "18572" "0" "c.*16058C>T" "r.(=)" "p.(=)" "" "0000277858" "00020970" "30" "18447" "0" "18447" "0" "c.*15933C>T" "r.(=)" "p.(=)" "" "0000277859" "00020970" "10" "17192" "0" "17192" "0" "c.*14678C>T" "r.(=)" "p.(=)" "" "0000277860" "00020970" "10" "17167" "0" "17167" "0" "c.*14653C>T" "r.(=)" "p.(=)" "" "0000277861" "00020970" "10" "16123" "0" "16123" "0" "c.*13609C>T" "r.(=)" "p.(=)" "" "0000277862" "00020970" "10" "94965" "0" "94965" "0" "c.*92451G>A" "r.(=)" "p.(=)" "" "0000277863" "00020970" "50" "13298" "0" "13298" "0" "c.*10784G>A" "r.(=)" "p.(=)" "" "0000277864" "00020970" "10" "13195" "0" "13195" "0" "c.*10681G>A" "r.(=)" "p.(=)" "" "0000277865" "00020970" "10" "13166" "0" "13166" "0" "c.*10652C>T" "r.(=)" "p.(=)" "" "0000277866" "00020970" "10" "94936" "0" "94936" "0" "c.*92422G>A" "r.(=)" "p.(=)" "" "0000277867" "00020970" "10" "12889" "0" "12889" "0" "c.*10375C>T" "r.(=)" "p.(=)" "" "0000277868" "00020970" "10" "12871" "0" "12871" "0" "c.*10357G>A" "r.(=)" "p.(=)" "" "0000277869" "00020970" "30" "12636" "0" "12636" "0" "c.*10122G>A" "r.(=)" "p.(=)" "" "0000277870" "00020970" "10" "12511" "0" "12511" "0" "c.*9997C>T" "r.(=)" "p.(=)" "" "0000277871" "00020970" "10" "12449" "0" "12449" "0" "c.*9935G>A" "r.(=)" "p.(=)" "" "0000277872" "00020970" "10" "84916" "0" "84916" "0" "c.*82402G>A" "r.(=)" "p.(=)" "" "0000277873" "00020970" "10" "84842" "0" "84842" "0" "c.*82328G>A" "r.(=)" "p.(=)" "" "0000281486" "00020970" "10" "99861" "0" "99861" "0" "c.*97347C>G" "r.(=)" "p.(=)" "" "0000281487" "00020970" "10" "17440" "0" "17440" "0" "c.*14926G>A" "r.(=)" "p.(=)" "" "0000281488" "00020970" "10" "16467" "0" "16467" "0" "c.*13953G>A" "r.(=)" "p.(=)" "" "0000281489" "00020970" "10" "82370" "0" "82370" "0" "c.*79856C>G" "r.(=)" "p.(=)" "" "0000285168" "00020970" "10" "17192" "0" "17192" "0" 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