### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SOX6) # 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}}" "SOX6" "SRY (sex determining region Y)-box 6" "11" "p15.3" "unknown" "NG_012881.1" "UD_132118331759" "" "https://www.LOVD.nl/SOX6" "" "1" "16421" "55553" "607257" "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/SOX6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-05-24 13:53:08" "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}}" "00020041" "SOX6" "transcript variant 2" "001" "NM_033326.3" "" "NP_201583.2" "" "" "" "-78" "8787" "2427" "16497935" "15987995" "" "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}}" "05533" "MR;ID" "mental retardation (MR, intellectual disability (ID))" "" "" "" "" "" "00006" "2018-12-18 09:22:07" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00302537" "" "" "" "4" "" "00006" "{PMID:Tolchin 2020:32442410}" "2-generation family, 4 affected, father and 3 sibs" "M" "" "United States" "" "0" "" "" "" "father" "00302538" "" "" "00302537" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "sib" "M" "" "United States" "" "0" "" "" "" "PIT-1; 406933" "00302539" "" "" "00302537" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "sib" "M" "" "United States" "" "0" "" "" "" "PIT-2" "00302540" "" "" "00302537" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "sib" "F" "" "United States" "" "0" "" "" "" "PIT-3" "00302541" "" "" "" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "" "M" "" "France" "" "0" "" "" "" "CHUN-1; 406934" "00302542" "" "" "" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "" "F" "" "France" "" "0" "" "" "" "CHLM-1; 406929" "00302543" "" "" "" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "" "M" "" "Slovenia" "" "0" "" "" "" "LJU-1; 406932" "00302544" "" "" "" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "" "M" "" "Germany" "" "0" "" "" "" "IHG-1; 406930" "00302545" "" "" "" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "" "F" "" "France" "" "0" "" "" "" "CHUP-1; 406931" "00302546" "" "" "" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "UK-1; 412103" "00302547" "" "" "" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "UK-2; 412119" "00302548" "" "" "" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "" "M" "" "France" "" "0" "" "" "" "CHUN-2; 412120" "00302549" "" "" "" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "" "M" "" "Canada" "" "0" "" "" "" "GDX-3;a 412130" "00302550" "" "" "" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "" "F" "" "United States" "" "0" "" "" "" "GDX-1; 412121" "00302551" "" "" "" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "" "F" "" "United States" "" "0" "" "" "" "GDX-2; 412122" "00302552" "" "" "" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "" "F" "" "France" "" "0" "" "" "" "PS-1; 412123" "00302553" "" "" "" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "" "F" "" "United States" "" "0" "" "" "" "CHOP-1; 412124" "00302554" "" "" "" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "" "F" "" "Belgium" "" "0" "" "" "" "LEUV-1; 412126" "00302555" "" "" "" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "" "M" "" "Netherlands" "" "0" "" "" "" "LEID-1;b 412127" "00302556" "" "" "" "1" "" "00006" "{PMID:Tolchin 2020:32442410}" "" "M" "" "France" "" "0" "" "" "" "CHUG-1" "00467473" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "348301" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00302537" "05611" "00302538" "05611" "00302539" "05611" "00302540" "05611" "00302541" "05611" "00302542" "05611" "00302543" "05611" "00302544" "05611" "00302545" "05611" "00302546" "05611" "00302547" "05611" "00302548" "05611" "00302549" "05611" "00302550" "05611" "00302551" "05611" "00302552" "05611" "00302553" "05611" "00302554" "05611" "00302555" "05611" "00302556" "05611" "00467473" "05533" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05533, 05611 ## Count = 21 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000229618" "05611" "00302537" "00006" "Unknown" "" "mild intellectual disability, no further clinical evaluation available" "" "" "" "" "" "" "" "" "0000229619" "05611" "00302538" "00006" "Familial, autosomal dominant" "7y" "weight +1 SD, height +1 SD, OFC 0 SD; mild intellectual disability; large ears, large nose; multiple osteochondromas; ADHD, autism, aggressive, emotional lability, tantrums, staring spells; submucous cleft palate" "" "" "" "" "" "" "" "" "0000229620" "05611" "00302539" "00006" "Familial, autosomal dominant" "3y" "weight −0.5 SD, height −0.5 SD, OFC −0.5 SD; mild intellectual disability; no facial dysmorphism; multiple osteochondromas; ADHD, autism, sleep disruption, staring spells, and left-sided weakness; bilateral nasolacrimal duct obstructions, food allergies" "" "" "" "" "" "" "" "" "0000229621" "05611" "00302540" "00006" "Familial, autosomal dominant" "12m" "weight +0.5 SD, height −2.5 SD, OFC +0.5 SD; normal intellectual disability; no facial dysmorphism; no osteochondromas; normal behaviour; diastasis recti, umbilical hernia, cardiac rhabdomyoma" "" "" "" "" "" "" "" "" "0000229622" "05611" "00302541" "00006" "Isolated (sporadic)" "10y" "weight +2 SD, height +0.5 SD, OFC +1 SD; mild intellectual disability; no facial dysmorphism; no osteochondromas; ADHD, anxiety" "" "" "" "" "" "" "" "" "0000229623" "05611" "00302542" "00006" "Isolated (sporadic)" "10y" "weight +3.5 SD, height +4.5 SD, OFC +1 SD; mild intellectual disability; no facial dysmorphism; no osteochondromas; normal behaviour; arachnodactyly, precocious puberty" "" "" "" "" "" "" "" "" "0000229624" "05611" "00302543" "00006" "Familial, autosomal dominant" "7y" "weight 0 SD, height 0 SD, OFC −0.5 SD; mild to moderate intellectual disability; no facial dysmorphism; no osteochondromas; normal behaviour; hypermetropia" "" "" "" "" "" "" "" "" "0000229625" "05611" "00302544" "00006" "Isolated (sporadic)" "9y4m" "weight +4 SD, height +0.5 SD, OFC +2 SD; mild intellectual disability; no facial dysmorphism; no osteochondromas; restlessness, short attention span, quick changes of mood, aggressive" "" "" "" "" "" "" "" "" "0000229626" "05611" "00302545" "00006" "Isolated (sporadic)" "12y" "weight −1 SD, height −1 SD, OFC −1 SD; moderate intellectual disability; oxycephaly (sagittal, metopic, and coronal craniosynostosis), micrognathia; no osteochondromas; attention deficit, anxiety" "" "" "" "" "" "" "" "" "0000229627" "05611" "00302546" "00006" "Isolated (sporadic)" "9y7m" "weight −1 SD, height 0 SD, OFC −2 SD; moderate intellectual disability; scaphocephaly (sagittal craniosynostosis), prominent occiput, hypertelorism; no osteochondromas; ADHD, lack of sense of danger, destructive, easily upset; short fifth fingers with clinodactyly, flat feet with valgus heels" "" "" "" "" "" "" "" "" "0000229628" "05611" "00302547" "00006" "Unknown" "6y" "weight −0.8 SD, height +1 SD, OFC −1 SD; mild intellectual disability; scaphocephaly (sagittal and left coronal craniosynostosis); no osteochondromas; attention deficit, sleep disturbance, aggressive episodes" "" "" "" "" "" "" "" "" "0000229629" "05611" "00302548" "00006" "Isolated (sporadic)" "6y" "weight −1 SD, height −1 SD, OFC −1 SD; mild to moderate intellectual disability; high forehead; no osteochondromas; ADHD; ogival palate" "" "" "" "" "" "" "" "" "0000229630" "05611" "00302549" "00006" "Isolated (sporadic)" "13y" "weight +1 SD, height +1.5 SD, OFC +1 SD; severe intellectual disability; no facial dysmorphism; no osteochondromas; ADHD; obesity" "" "" "" "" "" "" "" "" "0000229631" "05611" "00302550" "00006" "Isolated (sporadic)" "10y" "weight +2 SD, height +1 SD, OFC 0 SD; mild intellectual disability; bitemporal narrowing, small mouth; no osteochondromas; ADHD, anxiety; bilateral inverted nipples, sensorineural hearing loss, vestibular dysfunction" "" "" "" "" "" "" "" "" "0000229632" "05611" "00302551" "00006" "Isolated (sporadic)" "13y" "weight +1.5 SD, height −1 SD, OFC 0 SD; mild intellectual disability; short palpebral fissures, hooded eyelids, hypertelorism, wide nasal bridge, low-set ears; no osteochondromas; ADHD; high arched palate; long, tapering fingers; hypotonia" "" "" "" "" "" "" "" "" "0000229633" "05611" "00302552" "00006" "Isolated (sporadic)" "27y" "weight +4 SD, height −1.5 SD, OFC 0 SD; moderate intellectual disability; synophrys; no osteochondromas; normal behaviour; short extremities, hirsutism, dental abnormalities, Hashimoto’s thyroiditis" "" "" "" "" "" "" "" "" "0000229634" "05611" "00302553" "00006" "Isolated (sporadic)" "6y" "weight +1 SD, height +2 SD, OFC 0 SD; mild intellectual disability; no facial dysmorphism; multiple osteochondromas; ADHD; dysgraphia, developmental delay" "" "" "" "" "" "" "" "" "0000229635" "05611" "00302554" "00006" "Isolated (sporadic)" "3y" "weight +0.1 SD, height +1.2 SD, OFC −0.9 SD; mild to moderate intellectual disability; no facial dysmorphism; no osteochondromas; ADHD, autism; tremor hands" "" "" "" "" "" "" "" "" "0000229636" "05611" "00302555" "00006" "Isolated (sporadic)" "27y" "weight 0 SD, height −0.5 SD, OFC −0.2 SD; severe intellectual disability; long face, triangular; full eyebrows; no osteochondromas; autism, abnormal movements, automutilation, hyperventilation" "" "" "" "" "" "" "" "" "0000229637" "05611" "00302556" "00006" "Isolated (sporadic)" "2y6m" "weight +0.6 SD, height +0.8 SD, OFC +0.7 SD; mild to moderate intellectual disability; no facial dysmorphism; no osteochondromas; ADHD, oppositional disorder, self-endangerment, sleep disorders; gestural dyspraxia, graphomotor difficulties, troubles in neurosensory integration" "" "" "" "" "" "" "" "" "0000352680" "05533" "00467473" "01164" "Isolated (sporadic)" "04y" "Neurodevelopmental delay, Delayed speech and language development, Abnormality of mental function, Reduced attention regulation, Pectus carinatum" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000303658" "00302537" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "arrayCGH" "DNA" "" "" "0000303659" "00302538" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "arrayCGH" "DNA" "" "" "0000303660" "00302539" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "arrayCGH" "DNA" "" "" "0000303661" "00302540" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "arrayCGH" "DNA" "" "" "0000303662" "00302541" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "arrayCGH" "DNA" "" "" "0000303663" "00302542" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "arrayCGH" "DNA" "" "" "0000303664" "00302543" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "arrayCGH" "DNA" "" "" "0000303665" "00302544" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "arrayCGH" "DNA" "" "" "0000303666" "00302545" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "arrayCGH" "DNA" "" "" "0000303667" "00302546" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000303668" "00302547" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000303669" "00302548" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303670" "00302549" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303671" "00302550" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303672" "00302551" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303673" "00302552" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303674" "00302553" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303675" "00302554" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303676" "00302555" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303677" "00302556" "1" "00006" "00006" "2020-05-24 15:34:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000469136" "00467473" "1" "01164" "01164" "2025-10-13 15:41:50" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000303658" "SOX6" "0000303659" "SOX6" "0000303660" "SOX6" "0000303661" "SOX6" "0000303662" "SOX6" "0000303663" "SOX6" "0000303664" "SOX6" "0000303665" "SOX6" "0000303666" "SOX6" "0000303667" "SOX6" "0000303668" "SOX6" "0000303669" "SOX6" "0000303670" "SOX6" "0000303671" "SOX6" "0000303672" "SOX6" "0000303673" "SOX6" "0000303674" "SOX6" "0000303675" "SOX6" "0000303676" "SOX6" "0000303677" "SOX6" "0000469136" "SOX6" ## 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 = 57 "{{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}}" "0000322064" "0" "50" "11" "15994545" "15994545" "subst" "0" "01804" "SOX6_000001" "g.15994545G>A" "" "" "" "SOX6(NM_001145811.1):c.2216C>T (p.(Ser739Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15972999G>A" "" "VUS" "" "0000322065" "0" "50" "11" "16068146" "16068146" "subst" "0" "01804" "SOX6_000002" "g.16068146C>G" "" "" "" "SOX6(NM_001145811.1):c.1456G>C (p.(Glu486Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16046600C>G" "" "VUS" "" "0000341274" "0" "50" "11" "16208391" "16208391" "subst" "1.62629E-5" "02327" "SOX6_000003" "g.16208391C>A" "" "" "" "SOX6(NM_001367873.1):c.646G>T (p.(Ala216Ser)), SOX6(NM_033326.3):c.646G>T (p.A216S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16186845C>A" "" "VUS" "" "0000543080" "0" "30" "11" "16036482" "16036482" "subst" "0.00027309" "01943" "SOX6_000004" "g.16036482A>G" "" "" "" "SOX6(NM_001367873.1):c.1732+6T>C, SOX6(NM_017508.3):c.1651+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16014936A>G" "" "likely benign" "" "0000543083" "0" "30" "11" "16117556" "16117556" "subst" "0.000142339" "01804" "SOX6_000005" "g.16117556G>A" "" "" "" "SOX6(NM_001145819.1):c.1126C>T (p.(His376Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16096010G>A" "" "likely benign" "" "0000613190" "0" "30" "11" "16077331" "16077331" "subst" "0.00227664" "01943" "SOX6_000007" "g.16077331T>C" "" "" "" "SOX6(NM_017508.3):c.1095A>G (p.E365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16055785T>C" "" "likely benign" "" "0000613191" "0" "30" "11" "16119215" "16119215" "subst" "0.000232596" "01804" "SOX6_000008" "g.16119215C>G" "" "" "" "SOX6(NM_001145811.1):c.918G>C (p.(Gln306His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16097669C>G" "" "likely benign" "" "0000622598" "0" "30" "11" "16010679" "16010679" "subst" "4.46911E-5" "01943" "SOX6_000006" "g.16010679G>A" "" "" "" "SOX6(NM_017508.3):c.1749C>T (p.D583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15989133G>A" "" "likely benign" "" "0000656743" "0" "30" "11" "16007743" "16007743" "subst" "0.0115185" "01804" "SOX6_000009" "g.16007743T>C" "" "" "" "SOX6(NM_001145811.1):c.2102+7A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15986197T>C" "" "likely benign" "" "0000667020" "0" "90" "11" "16358927" "16497834" "del" "0" "00006" "SOX6_000026" "g.(16340200_16358927)_(16497834_?)del" "" "{PMID:Tolchin 2020:32442410}" "" "del ex1-2" "139 Kb deletion" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000667021" "11" "90" "11" "16358927" "16497834" "del" "0" "00006" "SOX6_000026" "g.(16340200_16358927)_(16497834_?)del" "" "{PMID:Tolchin 2020:32442410}" "" "del ex1-2" "139 Kb deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000667022" "11" "90" "11" "16358927" "16497834" "del" "0" "00006" "SOX6_000026" "g.(16340200_16358927)_(16497834_?)del" "" "{PMID:Tolchin 2020:32442410}" "" "del ex1-2" "139 Kb deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000667023" "11" "90" "11" "16358927" "16497834" "del" "0" "00006" "SOX6_000026" "g.(16340200_16358927)_(16497834_?)del" "" "{PMID:Tolchin 2020:32442410}" "" "del ex1-2" "139 Kb deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000667024" "11" "90" "11" "16238166" "16554120" "del" "0" "00006" "SOX6_000020" "g.(16208502_16238166)_(16554120_?)del" "" "{PMID:Tolchin 2020:32442410}" "" "del ex1-4" "father mosaic (0.22);316 Kb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000667025" "0" "90" "11" "16309520" "16419313" "del" "0" "00006" "SOX6_000022" "g.(16256218_16309520)_(16419313_16497861)del" "" "{PMID:Tolchin 2020:32442410}" "" "del ex2-3" "110 Kb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000667026" "11" "90" "11" "16023626" "16446051" "del" "0" "00006" "SOX6_000014" "g.(16010717_16023626)_(16446051_16497861)del" "" "{PMID:Tolchin 2020:32442410}" "" "del ex2-13" "422 Kb deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000667027" "0" "90" "11" "16049440" "16399572" "del" "0" "00006" "SOX6_000016" "g.(16036597_16049440)_(16399572_16497861)del" "" "{PMID:Tolchin 2020:32442410}" "" "del ex2-13" "350 Kb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000667028" "0" "90" "11" "16128647" "16239865" "del" "0" "00006" "SOX6_000017" "g.(16119235_16128647)_(16239865_16256127)del" "" "{PMID:Tolchin 2020:32442410}" "" "del ex5-7" "111 Kb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000667029" "0" "90" "11" "16340195" "16340195" "subst" "0" "00006" "SOX6_000025" "g.16340195G>C" "" "{PMID:Tolchin 2020:32442410}" "" "" "" "De novo" "" "" "0" "" "" "g.16318649G>C" "" "pathogenic (dominant)" "" "0000667030" "0" "90" "11" "16340160" "16340160" "subst" "0" "00006" "SOX6_000024" "g.16340160G>A" "" "{PMID:Tolchin 2020:32442410}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.16318614G>A" "" "pathogenic (dominant)" "" "0000667031" "0" "90" "11" "16340144" "16340144" "subst" "0" "00006" "SOX6_000023" "g.16340144G>C" "" "{PMID:Tolchin 2020:32442410}" "" "" "" "De novo" "" "" "0" "" "" "g.16318598G>C" "" "pathogenic (dominant)" "" "0000667032" "0" "90" "11" "16256180" "16256180" "subst" "0" "00006" "SOX6_000021" "g.16256180C>G" "" "{PMID:Tolchin 2020:32442410}" "" "" "" "De novo" "" "" "0" "" "" "g.16234634C>G" "" "pathogenic (dominant)" "" "0000667033" "0" "90" "11" "16205491" "16205491" "subst" "0" "00006" "SOX6_000019" "g.16205491G>A" "" "{PMID:Tolchin 2020:32442410}" "" "" "" "De novo" "" "" "0" "" "" "g.16183945G>A" "" "pathogenic (dominant)" "" "0000667034" "0" "90" "11" "16133374" "16133374" "del" "0" "00006" "SOX6_000018" "g.16133374del" "" "{PMID:Tolchin 2020:32442410}" "" "878delC" "" "De novo" "" "" "0" "" "" "g.16111828del" "" "pathogenic (dominant)" "" "0000667035" "0" "90" "11" "16036492" "16036492" "del" "0" "00006" "SOX6_000015" "g.16036492del" "" "{PMID:Tolchin 2020:32442410}" "" "" "" "De novo" "" "" "0" "" "" "g.16014946del" "" "pathogenic (dominant)" "" "0000667036" "0" "90" "11" "16010635" "16010635" "subst" "0" "00006" "SOX6_000013" "g.16010635A>G" "" "{PMID:Tolchin 2020:32442410}" "" "" "" "De novo" "" "" "0" "" "" "g.15989089A>G" "" "pathogenic (dominant)" "" "0000667037" "0" "90" "11" "16007958" "16007958" "subst" "0" "00006" "SOX6_000012" "g.16007958A>T" "" "{PMID:Tolchin 2020:32442410}" "" "" "" "De novo" "" "" "0" "" "" "g.15986412A>T" "" "pathogenic (dominant)" "" "0000667038" "0" "90" "11" "15994545" "15994545" "subst" "0" "00006" "SOX6_000001" "g.15994545G>A" "" "{PMID:Tolchin 2020:32442410}" "" "" "" "De novo" "" "" "0" "" "" "g.15972999G>A" "" "pathogenic (dominant)" "" "0000667039" "0" "90" "11" "0" "0" "" "0" "00006" "SOX6_000010" "g.pter_16035758delins[NC_000002.11:pter_85474807]" "" "{PMID:Tolchin 2020:32442410}" "" "" "" "De novo" "" "" "0" "" "46,XY,t(2;11)(p11.2;p15.2)" "" "" "pathogenic (dominant)" "" "0000667042" "0" "90" "11" "0" "0" "" "0" "00006" "SOX6_000011" "g.[NC_000002.11:pter_85474807]delinspter_16035758" "" "{PMID:Tolchin 2020:32442410}" "" "" "" "DUPLICATE record" "" "" "0" "" "46,XY,t(2;11)(p11.2;p15.2)" "" "" "pathogenic (dominant)" "" "0000690994" "0" "50" "11" "15994395" "15994395" "subst" "1.22299E-5" "01804" "SOX6_000027" "g.15994395C>T" "" "" "" "SOX6(NM_001145811.1):c.2366G>A (p.(Ser789Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805024" "0" "50" "11" "16068232" "16068232" "subst" "0" "01943" "SOX6_000028" "g.16068232A>C" "" "" "" "SOX6(NM_001367873.1):c.1451T>G (p.L484R), SOX6(NM_033326.3):c.1451T>G (p.(Leu484Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805025" "0" "30" "11" "16119205" "16119205" "subst" "0.000224406" "01804" "SOX6_000029" "g.16119205A>T" "" "" "" "SOX6(NM_001145811.1):c.928T>A (p.(Ser310Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805026" "0" "30" "11" "16424379" "16424379" "subst" "0" "01804" "SOX6_000030" "g.16424379A>T" "" "" "" "SOX6(NM_001145819.1):c.2T>A (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852833" "0" "50" "11" "16117615" "16117615" "subst" "4.06603E-6" "01804" "SOX6_000031" "g.16117615C>T" "" "" "" "SOX6(NM_001145819.1):c.1067G>A (p.(Ser356Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852834" "0" "90" "11" "16340105" "16340105" "del" "0" "02327" "SOX6_000032" "g.16340105del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889709" "0" "90" "11" "16205440" "16205440" "subst" "0" "02329" "SOX6_000033" "g.16205440G>A" "" "" "" "SOX6(NM_033326.3):c.769C>T (p.Q257*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889710" "0" "30" "11" "16362593" "16362593" "subst" "0.00128713" "01804" "SOX6_000034" "g.16362593C>T" "" "" "" "SOX6(NM_001145811.1):c.202G>A (p.(Asp68Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949616" "0" "50" "11" "16007866" "16007866" "subst" "0" "02325" "SOX6_000035" "g.16007866T>G" "" "" "" "SOX6(NM_033326.3):c.2007A>C (p.K669N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979470" "0" "30" "11" "16036482" "16036482" "subst" "0.00027309" "01804" "SOX6_000004" "g.16036482A>G" "" "" "" "SOX6(NM_001367873.1):c.1732+6T>C, SOX6(NM_017508.3):c.1651+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979471" "0" "50" "11" "16117560" "16117560" "subst" "4.06719E-6" "01804" "SOX6_000036" "g.16117560G>C" "" "" "" "SOX6(NM_001367873.1):c.1083C>G (p.(Tyr361*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979472" "0" "50" "11" "16256198" "16256198" "subst" "8.73362E-6" "01804" "SOX6_000037" "g.16256198T>G" "" "" "" "SOX6(NM_001367873.1):c.465A>C (p.(Lys155Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998894" "0" "50" "11" "16068232" "16068232" "subst" "0" "01804" "SOX6_000028" "g.16068232A>C" "" "" "" "SOX6(NM_001367873.1):c.1451T>G (p.L484R), SOX6(NM_033326.3):c.1451T>G (p.(Leu484Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998895" "0" "30" "11" "16071310" "16071310" "subst" "8.13392E-6" "01804" "SOX6_000038" "g.16071310A>G" "" "" "" "SOX6(NM_033326.3):c.1426T>C (p.(Ser476Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998896" "0" "50" "11" "16117576" "16117576" "subst" "0" "01804" "SOX6_000039" "g.16117576C>T" "" "" "" "SOX6(NM_033326.3):c.1067G>A (p.(Gly356Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998897" "0" "50" "11" "16208430" "16208430" "subst" "0" "01804" "SOX6_000040" "g.16208430C>A" "" "" "" "SOX6(NM_033326.3):c.607G>T (p.(Glu203*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998899" "0" "50" "11" "16362646" "16362646" "subst" "0" "01804" "SOX6_000041" "g.16362646T>A" "" "" "" "SOX6(NM_033326.3):c.149A>T (p.(Lys50Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014768" "0" "50" "11" "16208391" "16208391" "subst" "1.62629E-5" "02325" "SOX6_000003" "g.16208391C>A" "" "" "" "SOX6(NM_001367873.1):c.646G>T (p.(Ala216Ser)), SOX6(NM_033326.3):c.646G>T (p.A216S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038356" "0" "30" "11" "16133417" "16133417" "subst" "3.6602E-5" "01804" "SOX6_000042" "g.16133417C>T" "" "" "" "SOX6(NM_001367873.1):c.830G>A (p.(Arg277Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038357" "0" "30" "11" "16208472" "16208472" "subst" "4.88385E-5" "01804" "SOX6_000043" "g.16208472G>A" "" "" "" "SOX6(NM_001367873.1):c.565C>T (p.(Arg189Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038358" "0" "50" "11" "16256171" "16256171" "subst" "0" "01804" "SOX6_000044" "g.16256171T>G" "" "" "" "SOX6(NM_001367873.1):c.492A>C (p.(Lys164Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038360" "0" "50" "11" "16340024" "16340024" "subst" "0" "01804" "SOX6_000045" "g.16340024T>C" "" "" "" "SOX6(NM_001367873.1):c.413A>G (p.(Lys138Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049322" "0" "70" "11" "16205461" "16205461" "del" "0" "01164" "SOX6_000046" "g.16205461del" "" "" "" "" "ACMG: PVS1, PS2_SUP, PM2_SUP" "De novo" "-" "" "0" "" "" "g.16183915del" "" "likely pathogenic (dominant)" "ACMG" "0001053821" "0" "30" "11" "16119240" "16119240" "subst" "4.89824E-5" "01804" "SOX6_000047" "g.16119240G>A" "" "" "" "SOX6(NM_001367873.1):c.899-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053822" "0" "30" "11" "16208391" "16208391" "subst" "1.62629E-5" "01804" "SOX6_000003" "g.16208391C>A" "" "" "" "SOX6(NM_001367873.1):c.646G>T (p.(Ala216Ser)), SOX6(NM_033326.3):c.646G>T (p.A216S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053823" "0" "50" "11" "16362688" "16362688" "subst" "1.22392E-5" "01804" "SOX6_000048" "g.16362688T>G" "" "" "" "SOX6(NM_001367873.1):c.107A>C (p.(His36Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053824" "0" "30" "11" "16424346" "16424346" "subst" "0" "01804" "SOX6_000049" "g.16424346C>A" "" "" "" "SOX6(NM_001145819.2):c.-5G>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 SOX6 ## Count = 57 "{{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}}" "0000322064" "00020041" "50" "2237" "0" "2237" "0" "c.2237C>T" "r.(?)" "p.(Ser746Leu)" "" "0000322065" "00020041" "50" "1537" "0" "1537" "0" "c.1537G>C" "r.(?)" "p.(Glu513Gln)" "" "0000341274" "00020041" "50" "646" "0" "646" "0" "c.646G>T" "r.(?)" "p.(Ala216Ser)" "" "0000543080" "00020041" "30" "1732" "6" "1732" "6" "c.1732+6T>C" "r.(=)" "p.(=)" "" "0000543083" "00020041" "30" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(His363Tyr)" "" "0000613190" "00020041" "30" "1218" "0" "1218" "0" "c.1218A>G" "r.(?)" "p.(Glu406=)" "" "0000613191" "00020041" "30" "918" "0" "918" "0" "c.918G>C" "r.(?)" "p.(Gln306His)" "" "0000622598" "00020041" "30" "1770" "0" "1770" "0" "c.1770C>T" "r.(?)" "p.(Asp590=)" "" "0000656743" "00020041" "30" "2123" "7" "2123" "7" "c.2123+7A>G" "r.(=)" "p.(=)" "" "0000667020" "00020041" "90" "-5" "28" "237" "3631" "c.(?_-5+28)_(237+3631_238-1)del" "r.0?" "p.0?" "_1_2i" "0000667021" "00020041" "90" "-5" "28" "237" "3631" "c.(?_-5+28)_(237+3631_238-1)del" "r.0?" "p.0?" "_1_2i" "0000667022" "00020041" "90" "-5" "28" "237" "3631" "c.(?_-5+28)_(237+3631_238-1)del" "r.0?" "p.0?" "_1_2i" "0000667023" "00020041" "90" "-5" "28" "237" "3631" "c.(?_-5+28)_(237+3631_238-1)del" "r.0?" "p.0?" "_1_2i" "0000667024" "00020041" "90" "-56263" "0" "535" "17962" "c.(?_-56263)_(535+17962_536-1)del" "r.?" "p.?" "_1_4i" "0000667025" "00020041" "90" "" "0" "" "0" "c.(_5+1_-4-56515)_(445+30472_446-1)del" "r.?" "p.?" "1i_3i" "0000667026" "00020041" "90" "-5" "51811" "1732" "12862" "c.(-5+1_-5+51811)_(1732+12862_1733-1)del" "r.?" "p.?" "1i_13i" "0000667027" "00020041" "90" "-4" "-36774" "1624" "-12844" "c.(-5+1_-4-36774)_(1624-12844_1624-1)del" "r.?" "p.?" "2i_12i" "0000667028" "00020041" "90" "535" "16263" "898" "4702" "c.(535+1_535+16263)_(898+4702_899-1)del" "r.?" "p.?" "4i_7i" "0000667029" "00020041" "90" "242" "0" "242" "0" "c.242C>G" "r.(?)" "p.(Ser81*)" "" "0000667030" "00020041" "90" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93*)" "" "0000667031" "00020041" "90" "293" "0" "293" "0" "c.293C>G" "r.(?)" "p.(Ser98*)" "" "0000667032" "00020041" "90" "483" "0" "483" "0" "c.483G>C" "r.(?)" "p.(Trp161Cys)" "" "0000667033" "00020041" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Gln240*)" "" "0000667034" "00020041" "90" "878" "0" "878" "0" "c.878del" "r.(?)" "p.(Pro293Leufs*3)" "" "0000667035" "00020041" "90" "1728" "0" "1728" "0" "c.1728del" "r.(?)" "p.(Glu577Argfs*29)" "" "0000667036" "00020041" "90" "1814" "0" "1814" "0" "c.1814T>C" "r.(?)" "p.(Met605Thr)" "" "0000667037" "00020041" "90" "1915" "0" "1915" "0" "c.1915T>A" "r.(?)" "p.(Trp639Arg)" "" "0000667038" "00020041" "90" "2237" "0" "2237" "0" "c.2237C>T" "r.(?)" "p.(Ser746Leu)" "" "0000667039" "00020041" "90" "0" "" "0" "" "c.?::1732+730" "r.?" "p.?" "13i" "0000667042" "00020041" "90" "0" "" "0" "" "c.1732+729::?" "r.?" "p.?" "13i" "0000690994" "00020041" "50" "2387" "0" "2387" "0" "c.2387G>A" "r.(?)" "p.(Ser796Asn)" "" "0000805024" "00020041" "50" "1451" "0" "1451" "0" "c.1451T>G" "r.(?)" "p.(Leu484Arg)" "" "0000805025" "00020041" "30" "928" "0" "928" "0" "c.928T>A" "r.(?)" "p.(Ser310Thr)" "" "0000805026" "00020041" "30" "-4" "-61581" "-4" "-61581" "c.-4-61581T>A" "r.(=)" "p.(=)" "" "0000852833" "00020041" "50" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Ser343Asn)" "" "0000852834" "00020041" "90" "332" "0" "332" "0" "c.332del" "r.(?)" "p.(Ile111Lysfs*2)" "" "0000889709" "00020041" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Gln257*)" "" "0000889710" "00020041" "30" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Asp68Asn)" "" "0000949616" "00020041" "50" "2007" "0" "2007" "0" "c.2007A>C" "r.(?)" "p.(Lys669Asn)" "" "0000979470" "00020041" "30" "1732" "6" "1732" "6" "c.1732+6T>C" "r.(=)" "p.(=)" "" "0000979471" "00020041" "50" "1083" "0" "1083" "0" "c.1083C>G" "r.(?)" "p.(Tyr361*)" "" "0000979472" "00020041" "50" "465" "0" "465" "0" "c.465A>C" "r.(?)" "p.(Lys155Asn)" "" "0000998894" "00020041" "50" "1451" "0" "1451" "0" "c.1451T>G" "r.(?)" "p.(Leu484Arg)" "" "0000998895" "00020041" "30" "1426" "0" "1426" "0" "c.1426T>C" "r.(?)" "p.(Ser476Pro)" "" "0000998896" "00020041" "50" "1067" "0" "1067" "0" "c.1067G>A" "r.(?)" "p.(Gly356Asp)" "" "0000998897" "00020041" "50" "607" "0" "607" "0" "c.607G>T" "r.(?)" "p.(Glu203*)" "" "0000998899" "00020041" "50" "149" "0" "149" "0" "c.149A>T" "r.(?)" "p.(Lys50Ile)" "" "0001014768" "00020041" "50" "646" "0" "646" "0" "c.646G>T" "r.(?)" "p.(Ala216Ser)" "" "0001038356" "00020041" "30" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277Gln)" "" "0001038357" "00020041" "30" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Trp)" "" "0001038358" "00020041" "50" "492" "0" "492" "0" "c.492A>C" "r.(?)" "p.(Lys164Asn)" "" "0001038360" "00020041" "50" "413" "0" "413" "0" "c.413A>G" "r.(?)" "p.(Lys138Arg)" "" "0001049322" "00020041" "70" "751" "0" "751" "0" "c.751del" "r.(?)" "p.(Ile251LeufsTer18)" "6" "0001053821" "00020041" "30" "899" "-6" "899" "-6" "c.899-6C>T" "r.(=)" "p.(=)" "" "0001053822" "00020041" "30" "646" "0" "646" "0" "c.646G>T" "r.(?)" "p.(Ala216Ser)" "" "0001053823" "00020041" "50" "107" "0" "107" "0" "c.107A>C" "r.(?)" "p.(His36Pro)" "" "0001053824" "00020041" "30" "-4" "-61548" "-4" "-61548" "c.-4-61548G>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000303658" "0000667020" "0000303659" "0000667021" "0000303660" "0000667022" "0000303661" "0000667023" "0000303662" "0000667024" "0000303663" "0000667025" "0000303664" "0000667026" "0000303665" "0000667027" "0000303666" "0000667028" "0000303667" "0000667029" "0000303668" "0000667030" "0000303669" "0000667031" "0000303670" "0000667032" "0000303671" "0000667033" "0000303672" "0000667034" "0000303673" "0000667035" "0000303674" "0000667036" "0000303675" "0000667037" "0000303676" "0000667038" "0000303677" "0000667039" "0000303677" "0000667042" "0000469136" "0001049322"