### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IFT43) # 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}}" "IFT43" "intraflagellar transport 43 homolog (Chlamydomonas)" "14" "q24.3" "unknown" "NG_031957.1" "UD_134408506152" "" "https://www.LOVD.nl/IFT43" "" "1" "29669" "112752" "614068" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/IFT43_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-04-25 16:12:45" "00000" "2025-11-01 13:22:20" ## 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}}" "00009851" "IFT43" "transcript variant 1" "004" "NM_052873.2" "" "NP_443105.2" "" "" "" "-34" "814" "642" "76452096" "76550092" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00372" "CED" "dysplasia, cranioectodermal (CED, Sensenbrenner syndrome)" "" "" "" "" "" "00006" "2014-05-02 09:56:43" "00006" "2015-12-07 07:11:25" "03548" "CED3" "dysplasia, cranioectodermal, type 3 (CED3)" "AR" "614099" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-25 16:09:24" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05635" "SRTD" "dysplasia, short-rib thoracic, with/without polydactyly (SRTD) (Jeune syndrome)" "" "" "" "" "" "00006" "2019-07-28 13:54:33" "" "" "05726" "RP81" "retinitis pigmentosa, type 81 (RP81)" "AR" "617871" "" "" "" "00006" "2020-04-10 19:44:30" "" "" "05732" "SRTD18" "dysplasia, short-rib thoracic, type 18 with polydactyly (SRTD18)" "AR" "617866" "" "" "" "00006" "2020-04-25 16:11:22" "00006" "2020-04-25 16:12:08" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "IFT43" "00372" "IFT43" "03548" "IFT43" "04214" "IFT43" "05635" "IFT43" "05726" "IFT43" "05732" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00300254" "" "" "" "9" "" "00006" "{PMID:Biswas 2017:28973684}" "6-generation family, 9 affected (3F, 6M)" "F" "yes" "Pakistan" "" "0" "" "" "" "FamPKRD272PatIII1" "00300255" "" "" "00300254" "1" "" "00006" "{PMID:Biswas 2017:28973684}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "FamPKRD272PatIII2" "00300256" "" "" "00300254" "1" "" "00006" "{PMID:Biswas 2017:28973684}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "FamPKRD272PatIII7" "00300257" "" "" "00300254" "1" "" "00006" "{PMID:Biswas 2017:28973684}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "FamPKRD272PatIII8" "00300258" "" "" "" "2" "" "00006" "{PMID:Arts 2011:21378380}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "yes" "Morocco" "" "0" "" "" "" "Fa,P05-101PatII1" "00300259" "" "" "00300258" "1" "" "00006" "{PMID:Arts 2011:21378380}" "brother" "M" "yes" "Morocco" "" "0" "" "" "" "FamP05-1040PatII2" "00300260" "" "" "" "2" "" "00006" "{PMID:Duran 2017:28400947}" "3-generation family, affected sister/fetus, unaffected heterozygous carrier parents/relatives" "F" "" "United States" "" "0" "" "" "" "R06-303A" "00300261" "" "" "" "2" "" "00006" "{PMID:Duran 2017:28400947}" "4-generation family, affected sister/fetus, unaffected heterozygous carrier parents/relatives" "F" "" "United States" "" "0" "" "" "European" "R03-121" "00388467" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "East Asian" "R98-413A" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00300254" "04214" "00300255" "04214" "00300256" "04214" "00300257" "04214" "00300258" "00372" "00300259" "00372" "00300260" "05635" "00300261" "05635" "00388467" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00372, 03548, 04214, 05635, 05726, 05732 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000227555" "04214" "00300254" "00006" "Familial, autosomal recessive" "46y" "normal physical development, normal body mass index, no symptoms of Sensenbrenner syndrome, no polydactyly, no short-rid, no micromelia, <5y night vision abnormalities; 30y-optic nerve pallor, retinal vessel attenuation, bone spicule pigmentary change anterior to arcades and in nasal retina, extensive RPE, choroidal atrophy each macula; 46y-full field ERG responses undetectable to all stimulus conditions" "" "" "" "" "" "" "" "" "RP81" "retinitis pigmentosa" "" "0000227556" "04214" "00300255" "00006" "Familial, autosomal recessive" "42y" "normal physical development, normal body mass index, no symptoms of Sensenbrenner syndrome, no polydactyly, no short-rid, no micromelia, <5y night vision abnormalities; 42y-full field ERG responses undetectable to all stimulus conditions" "" "" "" "" "" "" "" "" "RP81" "retinitis pigmentosa" "" "0000227557" "04214" "00300256" "00006" "Familial, autosomal recessive" "46y" "normal physical development, normal body mass index, no symptoms of Sensenbrenner syndrome, no polydactyly, no short-rid, no micromelia, <5y night vision abnormalities; 46y-full field ERG responses undetectable to all stimulus conditions" "" "" "" "" "" "" "" "" "RP81" "retinitis pigmentosa" "" "0000227558" "04214" "00300257" "00006" "Familial, autosomal recessive" "28y" "normal physical development, normal body mass index, no symptoms of Sensenbrenner syndrome, no polydactyly, no short-rid, no micromelia, <5y night vision abnormalities; 23y-optic nerve pallor, retinal vessel attenuation, bone spicule pigmentary change anterior to arcades and in nasal retina, smaller area of RPE, choroidal atrophy macula; 28y-full field ERG responses undetectable to all stimulus conditions" "" "" "" "" "" "" "" "" "RP81" "retinitis pigmentosa" "" "0000227559" "00372" "00300258" "00006" "Familial, autosomal recessive" "07y" "no dolichocephaly/scaphocephaly; no craniosynostosis; no frontal bossing; no macrocephaly; no telecanthus; no everted lower lip; no micrognathia; hypoplastic teeth; widely spaced teeth; short broad nails; fine hair; no skin laxity; dry skin; narrow thorax; no pectus excavatum; short humeri; brachydactyly; webbing of fingers; no postaxial polydactyly; restricted flexion of fingers; syndactyly of 2-3-4 toes; no bilateral sandal gap; joint laxity; nephronophthisis; no liver disease; no heart disease; no neurological findings; no recurrent lung infections, normal intelligence; height 112 cm (-2.5 SD)" "" "" "" "" "" "" "" "" "CED3" "Sensenbrenner syndrome" "" "0000227560" "00372" "00300259" "00006" "Familial, autosomal recessive" "05y" "scaphocephaly; sagittal suture synostosis; frontal bossing; no macrocephaly; telecanthus; everted lower lip; micrognathia; hypoplastic teeth; widely spaced teeth; short broad nails; sparse hair, fine hair; skin laxity; dry skin; narrow thorax; no pectus excavatum; bowing of humeri; brachydactyly; webbing of fingers; bilateral postaxial polydactyly feet, bilateral postaxial polydactyly hands; no restricted flexion of fingers; syndactyly of 2-3 and 5-6 toes; bilateral sandal gap; joint laxity; nephronophthisis, 3y-end-stage renal disease; neonatal cholestasis, liver cirrhosi; peripheral pulmonary stenosis; no neurological findings; no recurrent lung infections; normal intelligence; height 91 cm (<<-2.5 SD)" "" "" "" "" "" "" "" "" "CED3" "Sensenbrenner syndrome" "" "0000227561" "05635" "00300260" "00006" "Familial, autosomal recessive" "<0d" "30w-delivery; dolichocephaly; brain with abnormal folding of the left hippocampus, neuroglial heterotopias in the roof of the temporal horn, and mildly dilated ventricles; hypertelorism, bilateral epicanthal folds; thin upper lip, attached to maxilla by mucosal fold, micrognathia; small chest, abnormally bent ribs, mild platyspondyly; liver with ductal abnormalities, pancreas with stellate area of fibrosis in the tail; abnormal maturation of the kidneys with a poorly formed nephrogenic zone, thin cortex and medulla, and fibrosis; micromelia, reverse campomelia of humeri, curved radii, and ulnae; abnormal ilia; micromelia, thin fibulae; postaxial polydactyly with brachydactyly, bilateral simian creases, bilateral partial syndactyly of the second and third toes" "" "" "" "" "" "" "" "" "SRTD18" "short rib polydactyly syndrome" "" "0000227562" "05635" "00300261" "00006" "Familial, autosomal recessive" "<0d" "18w-delivery; poor mineralization of the calvarium; mild hydrocephalus; no reported abnormalities; no reported abnormalities; narrow and barrel shaped chest, short, bent and decreased number of ribs (11), vertebrae flattened and abnormally wedged with round anterior ends; malrotation of the intestines; polycystic kidneys; micromelia, decreased mineralization with curved radii and ulnae; abnormal ilia with decreased height, narrow sciatic notch, hypoplastic ischium; micromelia, angulated femur, hypoplastic tibae and fibulae; preaxial polydactyly, brachydactyly and aphalangia in hands" "" "" "" "" "" "" "" "" "SRTD18" "short rib polydactyly syndrome" "" "0000282019" "00198" "00388467" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000301373" "00300254" "1" "00006" "00006" "2020-04-25 18:28:53" "" "" "SEQ" "DNA" "" "" "0000301374" "00300255" "1" "00006" "00006" "2020-04-25 18:28:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000301375" "00300256" "1" "00006" "00006" "2020-04-25 18:28:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000301376" "00300257" "1" "00006" "00006" "2020-04-25 18:28:53" "" "" "SEQ" "DNA" "" "" "0000301377" "00300258" "1" "00006" "00006" "2020-04-25 18:55:31" "" "" "SEQ" "DNA" "" "" "0000301378" "00300259" "1" "00006" "00006" "2020-04-25 19:00:25" "" "" "SEQ" "DNA" "" "" "0000301379" "00300260" "1" "00006" "00006" "2020-04-25 19:30:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000301380" "00300261" "1" "00006" "00006" "2020-04-25 19:30:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000389708" "00388467" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000301373" "IFT43" "0000301374" "IFT43" "0000301375" "IFT43" "0000301376" "IFT43" "0000301377" "IFT43" "0000301378" "IFT43" "0000301379" "IFT43" "0000301380" "IFT43" "0000389708" "DYNC2H1" ## 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 = 67 "{{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}}" "0000281491" "0" "10" "14" "76524981" "76524981" "del" "0" "02325" "IFT43_000003" "g.76524981del" "" "" "" "IFT43(NM_001255995.2):c.216-4delT, IFT43(NM_001255995.3):c.216-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76058638del" "" "benign" "" "0000285172" "0" "10" "14" "76524981" "76524981" "del" "0" "02326" "IFT43_000001" "g.76524981del" "" "" "" "IFT43(NM_001255995.2):c.216-4delT, IFT43(NM_001255995.3):c.216-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76058638del" "" "benign" "" "0000285173" "0" "10" "14" "76524980" "76524980" "subst" "0" "02326" "IFT43_000002" "g.76524980T>C" "" "" "" "IFT43(NM_001255995.2):c.216-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76058637T>C" "" "benign" "" "0000289475" "0" "10" "14" "76543004" "76543004" "subst" "0.259474" "01943" "IFT43_000005" "g.76543004G>A" "" "" "" "IFT43(NM_052873.2):c.280G>A (p.D94N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76076661G>A" "" "benign" "" "0000289476" "0" "30" "14" "76543024" "76543024" "subst" "1.62451E-5" "01943" "IFT43_000006" "g.76543024G>A" "" "" "" "IFT43(NM_052873.2):c.300G>A (p.L100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76076681G>A" "" "likely benign" "" "0000289477" "0" "30" "14" "76548724" "76548724" "subst" "8.12196E-6" "01943" "IFT43_000007" "g.76548724G>C" "" "" "" "IFT43(NM_052873.2):c.383+14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76082381G>C" "" "likely benign" "" "0000316514" "0" "30" "14" "76447141" "76447141" "subst" "5.68486E-5" "01943" "TGFB3_000047" "g.76447141G>A" "" "" "" "TGFB3(NM_003239.2):c.96C>T (p.F32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75980798G>A" "" "likely benign" "" "0000344214" "0" "10" "14" "76543004" "76543004" "subst" "0.259474" "02327" "IFT43_000005" "g.76543004G>A" "" "" "" "IFT43(NM_052873.2):c.280G>A (p.D94N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76076661G>A" "" "benign" "" "0000553110" "0" "10" "14" "76447198" "76447198" "subst" "0.000950208" "01943" "TGFB3_000003" "g.76447198G>A" "" "" "" "TGFB3(NM_001329939.1):c.39C>T (p.A13=), TGFB3(NM_003239.5):c.39C>T (p.A13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75980855G>A" "" "benign" "" "0000553111" "0" "30" "14" "76452145" "76452145" "subst" "0.000454955" "01804" "IFT43_000008" "g.76452145G>C" "" "" "" "IFT43(NM_001102564.1):c.16G>C (p.(Asp6His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75985802G>C" "" "likely benign" "" "0000553112" "0" "30" "14" "76488691" "76488691" "subst" "0.000889369" "01804" "IFT43_000009" "g.76488691C>T" "" "" "" "IFT43(NM_001102564.1):c.169C>T (p.(Arg57Cys)), IFT43(NM_001255995.1):c.169C>T (p.R57C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76022348C>T" "" "likely benign" "" "0000553114" "0" "30" "14" "76524982" "76524982" "subst" "0" "01804" "IFT43_000010" "g.76524982C>T" "" "" "" "IFT43(NM_001102564.1):c.216-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76058639C>T" "" "likely benign" "" "0000553115" "0" "30" "14" "76524982" "76524985" "del" "0" "01804" "IFT43_000011" "g.76524982_76524985del" "" "" "" "IFT43(NM_001102564.1):c.216-3_216del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76058639_76058642del" "" "likely benign" "" "0000553117" "0" "30" "14" "76524988" "76524989" "ins" "0" "01804" "IFT43_000013" "g.76524988_76524989insTTTT" "" "" "" "IFT43(NM_001102564.1):c.216_217insTTTT (p.(Arg74PhefsTer2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76058645_76058646insTTTT" "" "likely benign" "" "0000553119" "0" "50" "14" "76548973" "76548973" "subst" "0.000345166" "01804" "IFT43_000015" "g.76548973C>T" "" "" "" "IFT43(NM_001102564.1):c.382C>T (p.(Arg128Trp)), IFT43(NM_052873.3):c.397C>T (p.R133W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76082630C>T" "" "VUS" "" "0000615101" "0" "50" "14" "76447155" "76447155" "subst" "7.30911E-5" "01943" "IFT43_000016" "g.76447155T>G" "" "" "" "TGFB3(NM_001329939.1):c.82A>C (p.T28P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75980812T>G" "" "VUS" "" "0000615102" "0" "50" "14" "76455226" "76455226" "subst" "0" "01943" "IFT43_000017" "g.76455226A>G" "" "" "" "IFT43(NM_052873.2):c.55-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75988883A>G" "" "VUS" "" "0000615103" "0" "70" "14" "76488668" "76488668" "subst" "1.21831E-5" "01804" "IFT43_000018" "g.76488668A>C" "" "" "" "IFT43(NM_001102564.1):c.148-2A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76022325A>C" "" "likely pathogenic" "" "0000615104" "0" "50" "14" "76548964" "76548964" "subst" "2.84243E-5" "01804" "IFT43_000019" "g.76548964C>T" "" "" "" "IFT43(NM_001102564.1):c.373C>T (p.(Gln125*)), IFT43(NM_052873.3):c.388C>T (p.Q130*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76082621C>T" "" "VUS" "" "0000615105" "0" "30" "14" "76548999" "76548999" "subst" "0" "01943" "IFT43_000020" "g.76548999C>T" "" "" "" "IFT43(NM_052873.2):c.423C>T (p.D141=), IFT43(NM_052873.3):c.423C>T (p.D141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76082656C>T" "" "likely benign" "" "0000623170" "0" "90" "14" "76548670" "76548670" "subst" "4.46675E-5" "01943" "IFT43_000014" "g.76548670C>T" "" "" "" "IFT43(NM_001102564.1):c.328C>T (p.(Gln110*)), IFT43(NM_052873.2):c.343C>T (p.Q115*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76082327C>T" "" "pathogenic" "" "0000623171" "0" "50" "14" "76549613" "76549613" "subst" "0.000442783" "01943" "IFT43_000021" "g.76549613C>T" "" "" "" "IFT43(NM_052873.2):c.503C>T (p.P168L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76083270C>T" "" "VUS" "" "0000664298" "3" "90" "14" "76455273" "76455273" "subst" "0.000113755" "00006" "IFT43_000025" "g.76455273G>A" "" "{PMID:Biswas 2017:28973684}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75988930G>A" "" "pathogenic (recessive)" "" "0000664299" "3" "90" "14" "76455273" "76455273" "subst" "0.000113755" "00006" "IFT43_000025" "g.76455273G>A" "" "{PMID:Biswas 2017:28973684}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75988930G>A" "" "pathogenic (recessive)" "" "0000664300" "3" "90" "14" "76455273" "76455273" "subst" "0.000113755" "00006" "IFT43_000025" "g.76455273G>A" "" "{PMID:Biswas 2017:28973684}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75988930G>A" "" "pathogenic (dominant)" "" "0000664301" "3" "90" "14" "76455273" "76455273" "subst" "0.000113755" "00006" "IFT43_000025" "g.76455273G>A" "" "{PMID:Biswas 2017:28973684}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75988930G>A" "" "pathogenic (dominant)" "" "0000664304" "3" "90" "14" "76452130" "76452130" "subst" "0" "00006" "IFT43_000022" "g.76452130A>G" "" "{PMID:Arts 2011:21378380}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75985787A>G" "" "pathogenic (recessive)" "" "0000664305" "3" "90" "14" "76452130" "76452130" "subst" "0" "00006" "IFT43_000022" "g.76452130A>G" "" "{PMID:Arts 2011:21378380}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75985787A>G" "" "pathogenic (recessive)" "" "0000664306" "3" "90" "14" "76452131" "76452131" "subst" "0" "00006" "IFT43_000023" "g.76452131T>A" "" "{PMID:Duran 2017:28400947}" "" "" "" "Germline" "" "" "0" "" "" "g.75985788T>A" "" "pathogenic (recessive)" "" "0000664307" "3" "90" "14" "76549813" "76549813" "subst" "0" "00006" "IFT43_000024" "g.76549813T>C" "" "{PMID:Duran 2017:28400947}" "" "" "" "Germline" "" "" "0" "" "" "g.76083470T>C" "" "pathogenic (recessive)" "" "0000680055" "0" "30" "14" "76455281" "76455281" "subst" "0" "01943" "IFT43_000026" "g.76455281C>T" "" "" "" "IFT43(NM_001255995.1):c.108C>T (p.H36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680056" "0" "30" "14" "76543038" "76543038" "subst" "0.000235594" "01943" "IFT43_000027" "g.76543038G>C" "" "" "" "IFT43(NM_052873.2):c.310+4G>C, IFT43(NM_052873.3):c.310+4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691714" "0" "30" "14" "76452150" "76452150" "subst" "0.000337165" "01943" "IFT43_000028" "g.76452150G>A" "" "" "" "IFT43(NM_001255995.1):c.21G>A (p.L7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724878" "0" "30" "14" "76543011" "76543011" "subst" "0" "01804" "IFT43_000029" "g.76543011G>A" "" "" "" "IFT43(NM_052873.2):c.287G>A (p.(Gly96Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724879" "0" "30" "14" "76548952" "76548952" "del" "0" "01943" "IFT43_000030" "g.76548952del" "" "" "" "IFT43(NM_052873.2):c.384-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724880" "0" "30" "14" "76549593" "76549593" "subst" "8.5282E-5" "01943" "IFT43_000031" "g.76549593C>T" "" "" "" "IFT43(NM_052873.2):c.483C>T (p.L161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806506" "0" "50" "14" "76542977" "76542977" "subst" "5.68537E-5" "01943" "IFT43_000032" "g.76542977G>A" "" "" "" "IFT43(NM_052873.2):c.253G>A (p.A85T), IFT43(NM_052873.3):c.253G>A (p.(Ala85Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000818919" "0" "70" "14" "76452137" "76452137" "subst" "2.03102E-5" "00000" "IFT43_000033" "g.76452137A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_052873.2:c.8A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000853892" "0" "50" "14" "76488691" "76488691" "subst" "0.000889369" "01943" "IFT43_000009" "g.76488691C>T" "" "" "" "IFT43(NM_001102564.1):c.169C>T (p.(Arg57Cys)), IFT43(NM_001255995.1):c.169C>T (p.R57C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853893" "0" "10" "14" "76549611" "76549611" "subst" "0.00132431" "02330" "IFT43_000039" "g.76549611G>A" "" "" "" "IFT43(NM_052873.3):c.501G>A (p.A167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863682" "0" "30" "14" "76452139" "76452139" "subst" "0" "01943" "IFT43_000034" "g.76452139T>A" "" "" "" "IFT43(NM_001255995.1):c.10T>A (p.L4M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863683" "0" "30" "14" "76452202" "76452202" "subst" "0.000279495" "02330" "IFT43_000035" "g.76452202G>C" "" "" "" "IFT43(NM_001255995.3):c.54+19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863684" "0" "30" "14" "76455211" "76455211" "subst" "0.00480617" "02330" "IFT43_000036" "g.76455211T>C" "" "" "" "IFT43(NM_001255995.3):c.55-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863685" "0" "30" "14" "76525692" "76525692" "subst" "0.000658355" "01943" "IFT43_000037" "g.76525692C>G" "" "" "" "IFT43(NM_001102564.1):c.271C>G (p.L91V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863686" "0" "50" "14" "76548664" "76548664" "subst" "4.06062E-6" "01804" "IFT43_000038" "g.76548664G>A" "" "" "" "IFT43(NM_001102564.1):c.322G>A (p.(Glu108Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863687" "0" "90" "14" "76548670" "76548670" "subst" "4.46675E-5" "01804" "IFT43_000014" "g.76548670C>T" "" "" "" "IFT43(NM_001102564.1):c.328C>T (p.(Gln110*)), IFT43(NM_052873.2):c.343C>T (p.Q115*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000863688" "0" "50" "14" "76549876" "76549876" "subst" "8.12368E-5" "01943" "IFT43_000040" "g.76549876C>T" "" "" "" "IFT43(NM_001102564.3):c.583C>T (p.(Gln195Ter)), IFT43(NM_052873.2):c.598C>T (p.Q200*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891897" "0" "10" "14" "76447198" "76447198" "subst" "0.000950208" "02329" "TGFB3_000003" "g.76447198G>A" "" "" "" "TGFB3(NM_001329939.1):c.39C>T (p.A13=), TGFB3(NM_003239.5):c.39C>T (p.A13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000891898" "0" "10" "14" "76524968" "76524968" "subst" "0" "02330" "IFT43_000041" "g.76524968T>G" "" "" "" "IFT43(NM_001255995.3):c.216-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000891899" "0" "50" "14" "76525022" "76525022" "subst" "2.03874E-5" "01804" "IFT43_000042" "g.76525022G>A" "" "" "" "IFT43(NM_001102564.1):c.248+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891900" "0" "30" "14" "76543038" "76543038" "subst" "0.000235594" "02330" "IFT43_000027" "g.76543038G>C" "" "" "" "IFT43(NM_052873.2):c.310+4G>C, IFT43(NM_052873.3):c.310+4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891901" "0" "50" "14" "76548973" "76548973" "subst" "0.000345166" "02325" "IFT43_000015" "g.76548973C>T" "" "" "" "IFT43(NM_001102564.1):c.382C>T (p.(Arg128Trp)), IFT43(NM_052873.3):c.397C>T (p.R133W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891902" "0" "30" "14" "76548999" "76548999" "subst" "0" "02330" "IFT43_000020" "g.76548999C>T" "" "" "" "IFT43(NM_052873.2):c.423C>T (p.D141=), IFT43(NM_052873.3):c.423C>T (p.D141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914220" "0" "50" "14" "76447112" "76447112" "subst" "4.06055E-6" "02329" "IFT43_000043" "g.76447112G>C" "" "" "" "TGFB3(NM_003239.5):c.125C>G (p.A42G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914221" "0" "30" "14" "76488655" "76488655" "subst" "0.00303397" "02326" "IFT43_000044" "g.76488655T>C" "" "" "" "IFT43(NM_052873.3):c.148-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914222" "0" "30" "14" "76525674" "76525674" "subst" "0.000337341" "01804" "IFT43_000045" "g.76525674C>T" "" "" "" "IFT43(NM_001102564.1):c.253C>T (p.(Arg85Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930337" "0" "90" "14" "76447210" "76447210" "del" "0" "02329" "IFT43_000046" "g.76447210del" "" "" "" "TGFB3(NM_003239.5):c.28delG (p.V10Wfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001155" "0" "70" "14" "76548964" "76548964" "subst" "2.84243E-5" "02325" "IFT43_000019" "g.76548964C>T" "" "" "" "IFT43(NM_001102564.1):c.373C>T (p.(Gln125*)), IFT43(NM_052873.3):c.388C>T (p.Q130*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015176" "0" "30" "14" "76549614" "76549614" "subst" "0.000158432" "02330" "IFT43_000047" "g.76549614G>A" "" "" "" "IFT43(NM_052873.3):c.504G>A (p.P168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040110" "0" "50" "14" "76543036" "76543036" "subst" "0.000443295" "01804" "IFT43_000048" "g.76543036T>C" "" "" "" "IFT43(NM_052873.3):c.310+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040111" "0" "30" "14" "76543038" "76543038" "subst" "0.000235594" "01804" "IFT43_000027" "g.76543038G>C" "" "" "" "IFT43(NM_052873.2):c.310+4G>C, IFT43(NM_052873.3):c.310+4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040112" "0" "50" "14" "76548706" "76548706" "subst" "0" "01804" "IFT43_000049" "g.76548706C>T" "" "" "" "IFT43(NM_001102564.3):c.364C>T (p.(Pro122Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040113" "0" "50" "14" "76549865" "76549865" "subst" "0" "01804" "IFT43_000050" "g.76549865G>A" "" "" "" "IFT43(NM_001102564.3):c.572G>A (p.(Trp191*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040114" "0" "50" "14" "76549876" "76549876" "subst" "8.12368E-5" "01804" "IFT43_000040" "g.76549876C>T" "" "" "" "IFT43(NM_001102564.3):c.583C>T (p.(Gln195Ter)), IFT43(NM_052873.2):c.598C>T (p.Q200*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054908" "0" "50" "14" "76455273" "76455273" "subst" "0.000113755" "01804" "IFT43_000025" "g.76455273G>A" "" "" "" "IFT43(NM_001102564.3):c.100G>A (p.(Glu34Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054909" "0" "50" "14" "76455320" "76455320" "subst" "0" "01804" "IFT43_000051" "g.76455320G>C" "" "" "" "IFT43(NM_001102564.3):c.147G>C (p.(Glu49Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054910" "0" "30" "14" "76542977" "76542977" "subst" "5.68537E-5" "01804" "IFT43_000032" "g.76542977G>A" "" "" "" "IFT43(NM_052873.2):c.253G>A (p.A85T), IFT43(NM_052873.3):c.253G>A (p.(Ala85Thr))" "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 IFT43 ## Count = 67 "{{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}}" "0000281491" "00009851" "10" "216" "-17959" "216" "-17959" "c.216-17959del" "r.(=)" "p.(=)" "" "0000285172" "00009851" "10" "216" "-17959" "216" "-17959" "c.216-17959del" "r.(=)" "p.(=)" "" "0000285173" "00009851" "10" "216" "-17960" "216" "-17960" "c.216-17960T>C" "r.(=)" "p.(=)" "" "0000289475" "00009851" "10" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Asp94Asn)" "" "0000289476" "00009851" "30" "300" "0" "300" "0" "c.300G>A" "r.(?)" "p.(Leu100=)" "" "0000289477" "00009851" "30" "383" "14" "383" "14" "c.383+14G>C" "r.(=)" "p.(=)" "" "0000316514" "00009851" "30" "-4989" "0" "-4989" "0" "c.-4989G>A" "r.(?)" "p.(=)" "" "0000344214" "00009851" "10" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Asp94Asn)" "" "0000553110" "00009851" "10" "-4932" "0" "-4932" "0" "c.-4932G>A" "r.(?)" "p.(=)" "" "0000553111" "00009851" "30" "16" "0" "16" "0" "c.16G>C" "r.(?)" "p.(Asp6His)" "" "0000553112" "00009851" "30" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57Cys)" "" "0000553114" "00009851" "30" "216" "-17958" "216" "-17958" "c.216-17958C>T" "r.(=)" "p.(=)" "" "0000553115" "00009851" "30" "216" "-17958" "216" "-17955" "c.216-17958_216-17955del" "r.(=)" "p.(=)" "" "0000553117" "00009851" "30" "216" "-17952" "216" "-17951" "c.216-17952_216-17951insTTTT" "r.(=)" "p.(=)" "" "0000553119" "00009851" "50" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Arg133Trp)" "" "0000615101" "00009851" "50" "-4975" "0" "-4975" "0" "c.-4975T>G" "r.(?)" "p.(=)" "" "0000615102" "00009851" "50" "55" "-2" "55" "-2" "c.55-2A>G" "r.spl?" "p.?" "" "0000615103" "00009851" "70" "148" "-2" "148" "-2" "c.148-2A>C" "r.spl?" "p.?" "" "0000615104" "00009851" "50" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Gln130Ter)" "" "0000615105" "00009851" "30" "423" "0" "423" "0" "c.423C>T" "r.(?)" "p.(Asp141=)" "" "0000623170" "00009851" "90" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Gln115Ter)" "" "0000623171" "00009851" "50" "503" "0" "503" "0" "c.503C>T" "r.(?)" "p.(Pro168Leu)" "" "0000664298" "00009851" "90" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Glu34Lys)" "" "0000664299" "00009851" "90" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Glu34Lys)" "" "0000664300" "00009851" "90" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Glu34Lys)" "" "0000664301" "00009851" "90" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Glu34Lys)" "" "0000664304" "00009851" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000664305" "00009851" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000664306" "00009851" "90" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "" "0000664307" "00009851" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "" "0000680055" "00009851" "30" "108" "0" "108" "0" "c.108C>T" "r.(?)" "p.(His36=)" "" "0000680056" "00009851" "30" "310" "4" "310" "4" "c.310+4G>C" "r.spl?" "p.?" "" "0000691714" "00009851" "30" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(Leu7=)" "" "0000724878" "00009851" "30" "287" "0" "287" "0" "c.287G>A" "r.(?)" "p.(Gly96Glu)" "" "0000724879" "00009851" "30" "384" "-8" "384" "-8" "c.384-8del" "r.(=)" "p.(=)" "" "0000724880" "00009851" "30" "483" "0" "483" "0" "c.483C>T" "r.(?)" "p.(Leu161=)" "" "0000806506" "00009851" "50" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "" "0000818919" "00009851" "70" "8" "0" "8" "0" "c.8A>G" "r.(?)" "p.(Asp3Gly)" "1" "0000853892" "00009851" "50" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57Cys)" "" "0000853893" "00009851" "10" "501" "0" "501" "0" "c.501G>A" "r.(?)" "p.(Ala167=)" "" "0000863682" "00009851" "30" "10" "0" "10" "0" "c.10T>A" "r.(?)" "p.(Leu4Met)" "" "0000863683" "00009851" "30" "54" "19" "54" "19" "c.54+19G>C" "r.(=)" "p.(=)" "" "0000863684" "00009851" "30" "55" "-17" "55" "-17" "c.55-17T>C" "r.(=)" "p.(=)" "" "0000863685" "00009851" "30" "216" "-17248" "216" "-17248" "c.216-17248C>G" "r.(=)" "p.(=)" "" "0000863686" "00009851" "50" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Glu113Lys)" "" "0000863687" "00009851" "90" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Gln115Ter)" "" "0000863688" "00009851" "50" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Gln200*)" "" "0000891897" "00009851" "10" "-4932" "0" "-4932" "0" "c.-4932G>A" "r.(?)" "p.(=)" "" "0000891898" "00009851" "10" "216" "-17972" "216" "-17972" "c.216-17972T>G" "r.(=)" "p.(=)" "" "0000891899" "00009851" "50" "216" "-17918" "216" "-17918" "c.216-17918G>A" "r.(=)" "p.(=)" "" "0000891900" "00009851" "30" "310" "4" "310" "4" "c.310+4G>C" "r.spl?" "p.?" "" "0000891901" "00009851" "50" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Arg133Trp)" "" "0000891902" "00009851" "30" "423" "0" "423" "0" "c.423C>T" "r.(?)" "p.(Asp141=)" "" "0000914220" "00009851" "50" "-5018" "0" "-5018" "0" "c.-5018G>C" "r.(?)" "p.(=)" "" "0000914221" "00009851" "30" "148" "-15" "148" "-15" "c.148-15T>C" "r.(=)" "p.(=)" "" "0000914222" "00009851" "30" "216" "-17266" "216" "-17266" "c.216-17266C>T" "r.(=)" "p.(=)" "" "0000930337" "00009851" "90" "-4920" "0" "-4920" "0" "c.-4920del" "r.(?)" "p.(=)" "" "0001001155" "00009851" "70" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Gln130Ter)" "" "0001015176" "00009851" "30" "504" "0" "504" "0" "c.504G>A" "r.(?)" "p.(=)" "" "0001040110" "00009851" "50" "310" "2" "310" "2" "c.310+2T>C" "r.spl?" "p.?" "" "0001040111" "00009851" "30" "310" "4" "310" "4" "c.310+4G>C" "r.spl?" "p.?" "" "0001040112" "00009851" "50" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Pro127Ser)" "" "0001040113" "00009851" "50" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Trp196*)" "" "0001040114" "00009851" "50" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Gln200*)" "" "0001054908" "00009851" "50" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Glu34Lys)" "" "0001054909" "00009851" "50" "147" "0" "147" "0" "c.147G>C" "r.(?)" "p.(Glu49Asp)" "" "0001054910" "00009851" "30" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000301373" "0000664298" "0000301374" "0000664299" "0000301375" "0000664300" "0000301376" "0000664301" "0000301377" "0000664304" "0000301378" "0000664305" "0000301379" "0000664306" "0000301380" "0000664307" "0000389708" "0000818919"