### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FAM179B) # 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}}" "FAM179B" "family with sequence similarity 179, member B" "14" "q21.3" "unknown" "NC_000014.8" "UD_132319776993" "" "https://www.LOVD.nl/TOGARAM1" "" "1" "19959" "23116" "617618" "1" "1" "1" "1" "NOTE: gene name changed from FAM179B to TOGARAM1. Reference transcript to be changed to NM_001308120.2.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "NOTE: gene name changed from FAM179B to TOGARAM1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-08-04 11:27:37" "00000" "2025-05-05 21:14:00" ## 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}}" "00007645" "FAM179B" "family with sequence similarity 179, member B" "001" "NM_015091.2" "" "NP_055906.2" "" "" "" "-209" "6033" "5163" "45431416" "45543634" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00303450" "" "" "" "1" "" "00006" "{PMID:Latour 2020:32453716}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "M" "" "Australia" "" "0" "" "" "white" "UW351" "00303451" "" "" "" "1" "" "00006" "{PMID:Latour 2020:32453716}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "white" "UW360" "00303452" "" "" "" "1" "" "00006" "{PMID:Latour 2020:32453716}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "M" "yes" "Egypt" "" "0" "" "" "Middle East" "13DG1578" "00303453" "" "" "" "1" "" "00006" "{PMID:Latour 2020:32453716}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "M" "yes" "Iran" "" "0" "" "" "Middle East" "WGL-1914" "00303454" "" "" "" "1" "" "00006" "{PMID:Latour 2020:32453716}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "JAS-L50" "00303455" "" "" "" "2" "" "00006" "Morbidoni ESHG2020 C19.2, {PMID:Morbidoni 2021:32747439}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "M" "no" "Italy" "<00y00m00d" "0" "" "" "" "FamPatII1" "00378071" "" "" "00303455" "1" "" "00006" "{PMID:Morbidoni 2021:32747439}" "" "M" "no" "Italy" "<00y00m00d" "0" "" "" "" "FamPatII2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00303450" "05109" "00303451" "05109" "00303452" "05109" "00303453" "05109" "00303454" "05109" "00303455" "00198" "00378071" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05109 ## Count = 7 "{{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}}" "0000230530" "05109" "00303450" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert Syndrome" "" "0000230531" "05109" "00303451" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert Syndrome" "" "0000230532" "05109" "00303452" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert Syndrome" "" "0000230533" "05109" "00303453" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert Syndrome" "" "0000230534" "05109" "00303454" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert Syndrome" "" "0000230535" "00198" "00303455" "00006" "Familial, autosomal recessive" "" "fetus 21w, weight 490g, length 28cm; severe cleft lip and palate, microphthalmia (bilateral), hydrocephalus (severe), lissencephaly, no cerebellar hypoplasia, abdominal testes, normal heart, normal skeletal system" "<00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000273213" "00198" "00378071" "00006" "Familial, autosomal recessive" "" "fetus 17w, weight 210g, length 20cm; severe cleft lip and palate, microphthalmia (bilateral), hydrocephalus (moderate), no lissencephaly, cerebellar hypoplasia, no abdominal testes, normal heart, normal skeletal system" "<00y00m00d" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000304579" "00303450" "1" "00006" "00006" "2020-06-12 17:06:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304580" "00303451" "1" "00006" "00006" "2020-06-12 17:06:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304581" "00303452" "1" "00006" "00006" "2020-06-12 17:06:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304582" "00303453" "1" "00006" "00006" "2020-06-12 17:06:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304583" "00303454" "1" "00006" "00006" "2020-06-12 17:06:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304584" "00303455" "1" "00006" "00006" "2020-06-12 17:30:54" "00006" "2021-08-04 11:30:52" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000379272" "00378071" "1" "00006" "00006" "2020-06-12 17:30:54" "00006" "2021-08-04 11:30:52" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000304579" "FAM179B" "0000304580" "FAM179B" "0000304581" "FAM179B" "0000304582" "FAM179B" "0000304583" "FAM179B" "0000304584" "FAM179B" "0000379272" "FAM179B" ## 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 = 29 "{{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}}" "0000668050" "11" "90" "14" "45432748" "45432748" "subst" "2.43968E-5" "00006" "FAM179B_000001" "g.45432748T>C" "" "{PMID:Latour 2020:32453716}" "" "" "" "Germline" "" "" "0" "" "" "g.44963545T>C" "" "pathogenic (recessive)" "" "0000668051" "21" "90" "14" "45432708" "45432708" "subst" "0" "00006" "FAM179B_000003" "g.45432708C>T" "" "{PMID:Latour 2020:32453716}" "" "" "" "Germline" "" "" "0" "" "" "g.44963505C>T" "" "pathogenic (recessive)" "" "0000668052" "3" "90" "14" "45432726" "45432726" "subst" "0" "00006" "FAM179B_000004" "g.45432726C>T" "" "{PMID:Latour 2020:32453716}" "" "" "" "Germline" "" "" "0" "" "" "g.44963523C>T" "" "pathogenic (recessive)" "" "0000668053" "3" "90" "14" "45494995" "45494995" "subst" "0" "00006" "FAM179B_000005" "g.45494995C>A" "" "{PMID:Latour 2020:32453716}" "" "" "" "Germline" "" "" "0" "" "" "g.45025792C>A" "" "pathogenic (recessive)" "" "0000668054" "21" "90" "14" "45432736" "45432736" "subst" "1.62594E-5" "00006" "FAM179B_000006" "g.45432736C>A" "" "{PMID:Latour 2020:32453716}" "" "" "" "Germline" "" "" "0" "" "" "g.44963533C>A" "" "pathogenic (recessive)" "" "0000668055" "21" "90" "14" "45513850" "45513850" "subst" "0" "00006" "FAM179B_000002" "g.45513850C>T" "" "{PMID:Latour 2020:32453716}" "" "" "" "Germline" "" "" "0" "" "" "g.45044647C>T" "" "pathogenic (recessive)" "" "0000668056" "10" "90" "14" "45542624" "45542624" "subst" "4.06204E-6" "00006" "FAM179B_000007" "g.45542624C>T" "" "{PMID:Latour 2020:32453716}" "" "" "" "Germline" "" "" "0" "" "" "g.45073421C>T" "" "pathogenic (recessive)" "" "0000668057" "11" "90" "14" "45472070" "45484259" "del" "0" "00006" "FAM179B_000008" "g.45472070_45484259del" "" "{PMID:Latour 2020:32453716}" "" "del ex4-7, 45472062_45484253del" "" "Germline" "" "" "0" "" "" "g.45002867_45015056del" "" "pathogenic (recessive)" "" "0000668058" "11" "90" "14" "45497493" "45497493" "subst" "0" "00006" "FAM179B_000009" "g.45497493C>T" "" "Morbidoni ESHG2020 C19.2, {PMID:Morbidoni 2021:32747439}" "" "" "" "Germline" "" "" "0" "" "" "g.45028290C>T" "" "pathogenic (recessive)" "" "0000668059" "21" "90" "14" "45432726" "45432726" "subst" "0" "00006" "FAM179B_000004" "g.45432726C>T" "" "Morbidoni ESHG2020 C19.2, {PMID:Morbidoni 2021:32747439}" "" "" "" "Germline" "" "" "0" "" "" "g.44963523C>T" "" "pathogenic (recessive)" "" "0000792414" "11" "90" "14" "45497493" "45497493" "subst" "0" "00006" "FAM179B_000009" "g.45497493C>T" "" "Morbidoni ESHG2020 C19.2, {PMID:Morbidoni 2021:32747439}" "" "" "" "Germline" "" "" "0" "" "" "g.45028290C>T" "" "pathogenic (recessive)" "" "0000792415" "21" "90" "14" "45432726" "45432726" "subst" "0" "00006" "FAM179B_000004" "g.45432726C>T" "" "Morbidoni ESHG2020 C19.2, {PMID:Morbidoni 2021:32747439}" "" "" "" "Germline" "" "" "0" "" "" "g.44963523C>T" "" "pathogenic (recessive)" "" "0000853830" "0" "30" "14" "45433640" "45433640" "subst" "0.00241278" "02326" "FAM179B_000010" "g.45433640C>T" "" "" "" "TOGARAM1(NM_001308120.2):c.2016C>T (p.N672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853831" "0" "30" "14" "45473331" "45473331" "subst" "0" "01943" "FAM179B_000011" "g.45473331C>T" "" "" "" "TOGARAM1(NM_001308120.2):c.2406C>T (p.S802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863556" "0" "10" "14" "45475329" "45475329" "subst" "0.0031122" "02326" "FAM179B_000012" "g.45475329C>A" "" "" "" "TOGARAM1(NM_001308120.2):c.2763C>A (p.S921R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863557" "0" "30" "14" "45478228" "45478228" "subst" "6.5047E-5" "01943" "FAM179B_000013" "g.45478228C>T" "" "" "" "TOGARAM1(NM_001308120.2):c.3017C>T (p.T1006M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863558" "0" "10" "14" "45501597" "45501597" "subst" "0.00227477" "02326" "FAM179B_000014" "g.45501597A>G" "" "" "" "TOGARAM1(NM_001308120.2):c.3812+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000891786" "0" "50" "14" "45465046" "45465046" "subst" "1.231E-5" "02325" "FAM179B_000015" "g.45465046G>A" "" "" "" "TOGARAM1(NM_015091.4):c.2144G>A (p.R715K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891787" "0" "30" "14" "45513004" "45513004" "subst" "0.000265313" "02326" "FAM179B_000016" "g.45513004T>C" "" "" "" "TOGARAM1(NM_001308120.2):c.3918+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891788" "0" "30" "14" "45515923" "45515923" "subst" "0" "02326" "FAM179B_000017" "g.45515923G>A" "" "" "" "TOGARAM1(NM_001308120.2):c.4313+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925875" "0" "10" "14" "45535761" "45535761" "subst" "0.00186692" "02326" "FAM179B_000018" "g.45535761T>G" "" "" "" "TOGARAM1(NM_001308120.2):c.4560-20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950247" "0" "30" "14" "45496585" "45496585" "subst" "0" "02326" "FAM179B_000019" "g.45496585A>G" "" "" "" "TOGARAM1(NM_001308120.2):c.3412A>G (p.I1138V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980907" "0" "30" "14" "45542500" "45542500" "subst" "4.12412E-6" "01804" "FAM179B_000020" "g.45542500T>C" "" "" "" "TOGARAM1(NM_001308120.2):c.5058T>C (p.(Asp1686=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980908" "0" "50" "14" "45542625" "45542625" "subst" "1.21851E-5" "01804" "FAM179B_000021" "g.45542625G>A" "" "" "" "TOGARAM1(NM_001308120.2):c.5183G>A (p.(Arg1728Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001006" "0" "50" "14" "45542703" "45542703" "subst" "0" "01804" "FAM179B_000022" "g.45542703C>T" "" "" "" "FAM179B(NM_015091.2):c.5102C>T (p.(Pro1701Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026385" "0" "70" "14" "45478157" "45478157" "del" "0" "02329" "FAM179B_000023" "g.45478157del" "" "" "" "TOGARAM1(NM_001308120.2):c.2946delG (p.R984Efs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001026386" "0" "70" "14" "45542624" "45542624" "subst" "4.06204E-6" "02329" "FAM179B_000007" "g.45542624C>T" "" "" "" "TOGARAM1(NM_001308120.2):c.5182C>T (p.R1728*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001039963" "0" "50" "14" "45431929" "45431929" "subst" "7.3303E-5" "01804" "FAM179B_000024" "g.45431929T>A" "" "" "" "TOGARAM1(NM_001308120.2):c.305T>A (p.(Leu102His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039964" "0" "50" "14" "45494983" "45494983" "subst" "4.12082E-6" "01804" "FAM179B_000025" "g.45494983C>T" "" "" "" "TOGARAM1(NM_001308120.2):c.3239-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FAM179B ## Count = 29 "{{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}}" "0000668050" "00007645" "90" "1124" "0" "1124" "0" "c.1124T>C" "r.(?)" "p.(Leu375Pro)" "" "0000668051" "00007645" "90" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Gln362*)" "" "0000668052" "00007645" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368Trp)" "" "0000668053" "00007645" "90" "3248" "0" "3248" "0" "c.3248C>A" "r.(?)" "p.(Ser1083*)" "" "0000668054" "00007645" "90" "1112" "0" "1112" "0" "c.1112C>A" "r.(?)" "p.(Ala371Asp)" "" "0000668055" "00007645" "90" "3931" "0" "3931" "0" "c.3931C>T" "r.(?)" "p.(Arg1311Cys)" "" "0000668056" "00007645" "90" "5023" "0" "5023" "0" "c.5023C>T" "r.(?)" "p.(Arg1675*)" "" "0000668057" "00007645" "90" "2339" "-1194" "3238" "2981" "c.2339-1194_3238+2981del" "r.?" "p.(Val780_Ala1079del)" "3i_7i" "0000668058" "00007645" "90" "3619" "0" "3619" "0" "c.3619C>T" "r.3619c>u" "p.Arg1207*" "" "0000668059" "00007645" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368Trp)" "" "0000792414" "00007645" "90" "3619" "0" "3619" "0" "c.3619C>T" "r.3619c>u" "p.Arg1207*" "" "0000792415" "00007645" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368Trp)" "" "0000853830" "00007645" "30" "2016" "0" "2016" "0" "c.2016C>T" "r.(?)" "p.(Asn672=)" "" "0000853831" "00007645" "30" "2406" "0" "2406" "0" "c.2406C>T" "r.(?)" "p.(Ser802=)" "" "0000863556" "00007645" "10" "2763" "0" "2763" "0" "c.2763C>A" "r.(?)" "p.(Ser921Arg)" "" "0000863557" "00007645" "30" "3017" "0" "3017" "0" "c.3017C>T" "r.(?)" "p.(Thr1006Met)" "" "0000863558" "00007645" "10" "3812" "18" "3812" "18" "c.3812+18A>G" "r.(=)" "p.(=)" "" "0000891786" "00007645" "50" "2144" "0" "2144" "0" "c.2144G>A" "r.(?)" "p.(Arg715Lys)" "" "0000891787" "00007645" "30" "3918" "10" "3918" "10" "c.3918+10T>C" "r.(=)" "p.(=)" "" "0000891788" "00007645" "30" "4154" "1850" "4154" "1850" "c.4154+1850G>A" "r.(=)" "p.(=)" "" "0000925875" "00007645" "10" "4401" "-20" "4401" "-20" "c.4401-20T>G" "r.(=)" "p.(=)" "" "0000950247" "00007645" "30" "3412" "0" "3412" "0" "c.3412A>G" "r.(?)" "p.(Ile1138Val)" "" "0000980907" "00007645" "30" "4899" "0" "4899" "0" "c.4899T>C" "r.(?)" "p.(=)" "" "0000980908" "00007645" "50" "5024" "0" "5024" "0" "c.5024G>A" "r.(?)" "p.(Arg1675Gln)" "" "0001001006" "00007645" "50" "5102" "0" "5102" "0" "c.5102C>T" "r.(?)" "p.(Pro1701Leu)" "" "0001026385" "00007645" "70" "2946" "0" "2946" "0" "c.2946del" "r.(?)" "p.(Arg984Glufs*4)" "" "0001026386" "00007645" "70" "5023" "0" "5023" "0" "c.5023C>T" "r.(?)" "p.(Arg1675*)" "" "0001039963" "00007645" "50" "305" "0" "305" "0" "c.305T>A" "r.(?)" "p.(Leu102His)" "" "0001039964" "00007645" "50" "3239" "-3" "3239" "-3" "c.3239-3C>T" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000304579" "0000668050" "0000304579" "0000668055" "0000304580" "0000668051" "0000304580" "0000668057" "0000304581" "0000668052" "0000304582" "0000668053" "0000304583" "0000668054" "0000304583" "0000668056" "0000304584" "0000668058" "0000304584" "0000668059" "0000379272" "0000792414" "0000379272" "0000792415"