### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMO) # 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}}" "SMO" "smoothened, frizzled family receptor" "7" "q32.1" "unknown" "NG_023340.1" "UD_132085419909" "" "https://www.LOVD.nl/SMO" "" "1" "11119" "6608" "601500" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SMO_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-02-10 19:45:09" "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}}" "00019464" "SMO" "smoothened, frizzled family receptor" "001" "NM_005631.4" "" "NP_005622.1" "" "" "" "-280" "3458" "2364" "128828713" "128853386" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00299" "PHS" "Pallister-Hall syndrome (PHS)" "AD" "146510" "" "" "" "00006" "2014-01-19 11:17:54" "00006" "2021-12-10 21:51:32" "01869" "PHLS" "Pallister-Hall-like syndrome" "AR" "241800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-01-13 11:56:41" "01989" "OSTEOSARCOMA" "osteosarcoma" "SMu" "259500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02551" "BCC1" "carcinoma, basal cell, susceptibility to, type 1 (BCC-1)" "" "605462" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05225" "CRJS" "Curry-Jones syndrome, somatic mosaic (CRJS)" "" "601707" "" "" "somatic mosaic" "00006" "2017-02-10 19:48:53" "" "" "05250" "PAP" "polydactyly, postaxial (PAP)" "" "" "" "" "" "00006" "2017-03-30 19:25:51" "" "" "06890" "hamartoma" "hamartoma, hypothalamic" "" "" "" "" "" "00006" "2022-01-13 11:57:49" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SMO" "01869" "SMO" "02551" "SMO" "05225" ## Individuals ## Do not remove or alter this header ## ## Count = 26 "{{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}}" "00000107" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00050581" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00100324" "" "" "" "1" "" "00006" "{PMID:Twigg 2016:27236920}, {DOI:Twigg 2016:10.1016/j.ajhg.2016.04.007}" "" "F" "" "" "" "0" "" "" "" "" "00100325" "" "" "" "1" "" "00006" "{PMID:Twigg 2016:27236920}, {DOI:Twigg 2016:10.1016/j.ajhg.2016.04.007}" "" "M" "" "" "" "0" "" "" "" "" "00100326" "" "" "" "1" "" "00006" "{PMID:Twigg 2016:27236920}, {DOI:Twigg 2016:10.1016/j.ajhg.2016.04.007}" "" "M" "" "" "" "0" "" "" "" "" "00100327" "" "" "" "1" "" "00006" "{PMID:Twigg 2016:27236920}, {DOI:Twigg 2016:10.1016/j.ajhg.2016.04.007}" "" "M" "" "" "" "0" "" "" "" "" "00100328" "" "" "" "1" "" "00006" "{PMID:Twigg 2016:27236920}, {DOI:Twigg 2016:10.1016/j.ajhg.2016.04.007}" "" "M" "" "" "" "0" "" "" "" "" "00100329" "" "" "" "1" "" "00006" "{PMID:Twigg 2016:27236920}, {DOI:Twigg 2016:10.1016/j.ajhg.2016.04.007}" "" "M" "" "" "" "0" "" "" "" "" "00100330" "" "" "" "1" "" "00006" "{PMID:Twigg 2016:27236920}, {DOI:Twigg 2016:10.1016/j.ajhg.2016.04.007}" "" "F" "" "" "" "0" "" "" "" "" "00100331" "" "" "" "1" "" "00006" "{PMID:Twigg 2016:27236920}, {DOI:Twigg 2016:10.1016/j.ajhg.2016.04.007}" "" "F" "" "" "" "0" "" "" "" "" "00264056" "" "" "" "1" "" "03415" "" "" "M" "no" "Brazil" "31y" "0" "" "" "" "#10" "00288204" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat14" "00294326" "" "" "" "246" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294327" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294328" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296442" "" "" "" "1" "" "03570" "{PMID:Le 2020:32413283}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "France" "03y" "0" "" "" "" "Fam1PatII1 (P1)" "00302557" "" "" "" "2" "" "03570" "{PMID:Le 2020:32413283}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam2PatII1 (P2)" "00302559" "" "" "" "1" "" "03570" "{PMID:Le 2020:32413283}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "France" "" "0" "" "" "" "Fam3PatII1 (P4)" "00302560" "" "" "" "1" "" "03570" "{PMID:Le 2020:32413283}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "Fam4PatII4 (P5)" "00302562" "" "" "00302561" "1" "" "03570" "{PMID:Le 2020:32413283}" "twin" "F" "yes" "France" "" "0" "" "" "" "Fam5PatII3 (P7)" "00305132" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00377156" "" "" "" "4" "" "04116" "" "2-generation family, 2 affected, unaffected heterozygous carrier parents; father" "M" "" "" "" "0" "" "" "" "I-1" "00377157" "" "" "00377156" "1" "" "04116" "" "mother" "F" "" "" "" "0" "" "" "" "I-2" "00377158" "" "" "" "1" "" "04116" "" "son" "M" "" "" "" "0" "" "" "" "II-1" "00377159" "" "" "00377156" "1" "" "04116" "" "daughter" "F" "" "" "" "0" "" "" "" "II-2" "00396724" "" "" "" "1" "" "04116" "" "" "M" "" "" "" "0" "" "" "" "T1094" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00050581" "00198" "00100324" "05225" "00100325" "05225" "00100326" "05225" "00100327" "05225" "00100328" "05225" "00100329" "05225" "00100330" "05225" "00100331" "05225" "00264056" "01989" "00288204" "00198" "00294326" "00198" "00294327" "00198" "00294328" "00198" "00296442" "05250" "00302557" "05250" "00302559" "05250" "00302560" "05250" "00302562" "05250" "00305132" "00198" "00377156" "00000" "00377157" "00000" "00377158" "00299" "00377159" "00299" "00396724" "06890" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00299, 01869, 01989, 02551, 05225, 05250, 06890 ## Count = 17 "{{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}}" "0000037193" "00198" "00050581" "00006" "Isolated (sporadic)" "" "patent ductus arteriosus, midline central nervous system lipomas, global developmental delay, abnormality of the sclera, short philtrum" "" "" "" "" "" "" "" "" "" "" "" "0000078546" "05225" "00100324" "00006" "Isolated (sporadic)" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "0000078547" "05225" "00100325" "00006" "Isolated (sporadic)" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "0000078548" "05225" "00100326" "00006" "Isolated (sporadic)" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "0000078549" "05225" "00100327" "00006" "Isolated (sporadic)" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "0000078550" "05225" "00100328" "00006" "Isolated (sporadic)" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "0000078551" "05225" "00100329" "00006" "Isolated (sporadic)" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "0000078552" "05225" "00100330" "00006" "Isolated (sporadic)" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "0000078553" "05225" "00100331" "00006" "Isolated (sporadic)" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "0000201908" "01989" "00264056" "03415" "Unknown" "" "18y-osteosarcoma; negative for TP53 mutations; paternal aunt with breast cancer at 42y (Chompret criteria for Li-Fraumeni syndrome)" "" "" "" "" "" "" "" "" "" "" "" "0000221941" "00198" "00288204" "00006" "Isolated (sporadic)" "3y" "hyperpigmentation, hypopigmentation, hypertrichosis, linear hyperpigmentation, hypomelanotic macule, hypomelanosis of Ito, papilloma, blue nevus, polydactyly, hamartoma, dysmorphic features, vulvar hair growth" "" "" "" "" "" "" "" "" "" "" "" "0000229638" "05250" "00296442" "03570" "Familial, autosomal recessive" "03y" "see paper; ..., normal psychomotor development; gelastic epilepsy; hypothalamic hamartoma; no microcephaly; dysmorphic facial features; no chest and rib abnormalities; postaxial polydactyly; no syndactyly; no cardiac defect; Hirschsprung disease" "" "" "" "" "" "" "" "" "" "postaxial polydactyly" "" "0000229639" "05250" "00302557" "03570" "Familial, autosomal recessive" "7y" "see paper; ..., normal psychomotor development; gelastic epilepsy; hypothalamic hamartoma; microcephaly; dysmorphic facial features; no chest and rib abnormalities; postaxial polydactyly; 5/6 syndactyly; no cardiac defect; no Hirschsprung disease" "" "" "" "" "" "" "" "" "" "postaxial polydactyly" "" "0000229641" "05250" "00302559" "03570" "Familial, autosomal recessive" "5y" "see paper; ..., mild psychomotor development delay; no gelastic epilepsy; no hypothalamic hamartoma; no microcephaly; dysmorphic facial features; chest and rib abnormalities; postaxial polydactyly; 5/6 syndactyly; no cardiac defect; no Hirschsprung disease" "" "" "" "" "" "" "" "" "" "eune asphyxiating thoracic dysplasia" "" "0000229642" "05250" "00302560" "03570" "Familial, autosomal recessive" "8y" "see paper; ..., normal psychomotor development; no gelastic epilepsy; no hypothalamic hamartoma; no microcephaly; no dysmorphic facial features; moderate chest and rib abnormalities; postaxial polydactyly; no syndactyly; cardiac defect; no Hirschsprung disease" "" "" "" "" "" "" "" "" "" "EVC syndrome" "" "0000229644" "05250" "00302562" "03570" "Familial, autosomal recessive" "8y" "see paper; ..., normal psychomotor development; no gelastic epilepsy; no microcephaly; no dysmorphic facial features; no chest and rib abnormalities; postaxial polydactyly; 2/3 syndactyly; cardiac defect; no Hirschsprung disease" "" "" "" "" "" "" "" "" "" "postaxial polydactyly" "" "0000291909" "06890" "00396724" "04116" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "sporadic hypothalamic hamartoma" "" ## Screenings ## Do not remove or alter this header ## ## Count = 26 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000107" "00000107" "1" "00004" "" "2012-05-11 13:19:58" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000050526" "00050581" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000100728" "00100324" "1" "00006" "00006" "2017-02-10 20:01:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000100729" "00100325" "1" "00006" "00006" "2017-02-10 20:15:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000100730" "00100326" "1" "00006" "00006" "2017-02-10 20:15:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000100731" "00100327" "1" "00006" "00006" "2017-02-10 20:15:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000100732" "00100328" "1" "00006" "00006" "2017-02-10 20:15:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000100733" "00100329" "1" "00006" "00006" "2017-02-10 20:15:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000100734" "00100330" "1" "00006" "00006" "2017-02-10 20:15:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000100735" "00100331" "1" "00006" "00006" "2017-02-10 20:15:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000265178" "00264056" "1" "03415" "03415" "2019-09-08 22:40:29" "" "" "SEQ" "DNA" "Blood" "" "0000289373" "00288204" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood, fibroblast" "WES" "0000295494" "00294326" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295495" "00294327" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295496" "00294328" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297552" "00296442" "1" "03570" "03570" "2020-04-06 12:51:24" "" "" "SEQ-NG" "DNA" "" "WES" "0000303678" "00302557" "1" "03570" "00006" "2020-05-24 16:50:39" "00006" "2020-05-25 08:50:11" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000303680" "00302559" "1" "03570" "00006" "2020-05-24 16:50:39" "00006" "2020-05-25 08:56:23" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000303681" "00302560" "1" "03570" "00006" "2020-05-24 16:50:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303683" "00302562" "1" "03570" "00006" "2020-05-24 16:50:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000306261" "00305132" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000378360" "00377156" "1" "04116" "04116" "2021-07-15 01:15:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000378361" "00377157" "1" "04116" "04116" "2021-07-15 01:59:03" "" "" "PCR;RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "" "" "0000378363" "00377158" "1" "04116" "04116" "2021-07-15 02:59:32" "" "" "PCR;RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "" "" "0000378364" "00377159" "1" "04116" "04116" "2021-07-15 03:05:48" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000397967" "00396724" "1" "04116" "04116" "2021-12-17 02:45:10" "" "" "SEQ-NG-I" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{geneid}}" "0000000107" "ADA" "0000000107" "BTD" "0000000107" "CLN3" "0000000107" "CLRN1" "0000000107" "CYP21A2" "0000000107" "GLB1" "0000000107" "MEFV" "0000000107" "MYO5A" "0000000107" "NHLRC1" "0000000107" "NPHS1" "0000000107" "SERPINA1" "0000000107" "SLC26A2" "0000000107" "WNT10A" "0000100728" "SMO" "0000100729" "SMO" "0000100730" "SMO" "0000100731" "SMO" "0000100732" "SMO" "0000100733" "SMO" "0000100734" "SMO" "0000100735" "SMO" "0000265178" "SMO" "0000289373" "SMO" "0000303678" "SOX6" "0000303680" "SOX6" "0000303681" "SOX6" "0000303683" "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 = 64 "{{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}}" "0000079506" "0" "90" "7" "121000064" "135573959" "del" "0" "00006" "IMPDH1_000003" "g.121000064_135573959del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000163095" "0" "90" "7" "128846398" "128846398" "subst" "0" "00006" "SMO_000001" "g.128846398C>T" "" "{PMID:Twigg 2016:27236920}, {DOI:Twigg 2016:10.1016/j.ajhg.2016.04.007}, {OMIM601500:0003}" "" "" "somatic mosaicism up to 0.11" "Somatic" "" "rs879255280" "0" "" "" "g.129206557C>T" "" "pathogenic" "" "0000163096" "0" "90" "7" "128846398" "128846398" "subst" "0" "00006" "SMO_000001" "g.128846398C>T" "" "{PMID:Twigg 2016:27236920}, {DOI:Twigg 2016:10.1016/j.ajhg.2016.04.007}, {OMIM601500:0003}" "" "" "somatic mosaicism up to 0.24" "Somatic" "" "rs879255280" "0" "" "" "g.129206557C>T" "" "pathogenic" "" "0000163097" "0" "90" "7" "128846398" "128846398" "subst" "0" "00006" "SMO_000001" "g.128846398C>T" "" "{PMID:Twigg 2016:27236920}, {DOI:Twigg 2016:10.1016/j.ajhg.2016.04.007}, {OMIM601500:0003}" "" "" "somatic mosaicism up to 0.14" "Somatic" "" "rs879255280" "0" "" "" "g.129206557C>T" "" "pathogenic" "" "0000163098" "0" "90" "7" "128846398" "128846398" "subst" "0" "00006" "SMO_000001" "g.128846398C>T" "" "{PMID:Twigg 2016:27236920}, {DOI:Twigg 2016:10.1016/j.ajhg.2016.04.007}, {OMIM601500:0003}" "" "" "somatic mosaicism up to 0.20" "Somatic" "" "rs879255280" "0" "" "" "g.129206557C>T" "" "pathogenic" "" "0000163099" "0" "90" "7" "128846398" "128846398" "subst" "0" "00006" "SMO_000001" "g.128846398C>T" "" "{PMID:Twigg 2016:27236920}, {DOI:Twigg 2016:10.1016/j.ajhg.2016.04.007}, {OMIM601500:0003}" "" "" "somatic mosaicism up to 0.13" "Somatic" "" "rs879255280" "0" "" "" "g.129206557C>T" "" "pathogenic" "" "0000163100" "0" "90" "7" "128846398" "128846398" "subst" "0" "00006" "SMO_000001" "g.128846398C>T" "" "{PMID:Twigg 2016:27236920}, {DOI:Twigg 2016:10.1016/j.ajhg.2016.04.007}, {OMIM601500:0003}" "" "" "somatic mosaicism up to 0.04" "Somatic" "" "rs879255280" "0" "" "" "g.129206557C>T" "" "pathogenic" "" "0000163101" "0" "90" "7" "128846398" "128846398" "subst" "0" "00006" "SMO_000001" "g.128846398C>T" "" "{PMID:Twigg 2016:27236920}, {DOI:Twigg 2016:10.1016/j.ajhg.2016.04.007}, {OMIM601500:0003}" "" "" "somatic mosaicism up to 0.09" "Somatic" "" "rs879255280" "0" "" "" "g.129206557C>T" "" "pathogenic" "" "0000163102" "0" "90" "7" "128846398" "128846398" "subst" "0" "00006" "SMO_000001" "g.128846398C>T" "" "{PMID:Twigg 2016:27236920}, {DOI:Twigg 2016:10.1016/j.ajhg.2016.04.007}, {OMIM601500:0003}" "" "" "somatic mosaicism up to 0.33" "Somatic" "" "rs879255280" "0" "" "" "g.129206557C>T" "" "pathogenic" "" "0000530906" "0" "30" "7" "128829117" "128829117" "subst" "0" "01804" "SMO_000003" "g.128829117G>A" "" "" "" "SMO(NM_005631.4):c.125G>A (p.(Arg42Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129189276G>A" "" "likely benign" "" "0000530907" "0" "30" "7" "128845511" "128845511" "subst" "0.0070094" "01804" "SMO_000004" "g.128845511G>A" "" "" "" "SMO(NM_005631.4):c.808G>A (p.(Val270Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129205670G>A" "" "likely benign" "" "0000530908" "0" "50" "7" "128851930" "128851930" "subst" "1.5296E-5" "01804" "SMO_000005" "g.128851930C>T" "" "" "" "SMO(NM_005631.4):c.2002C>T (p.(Arg668Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129212089C>T" "" "VUS" "" "0000530909" "0" "30" "7" "128852075" "128852075" "subst" "1.45435E-5" "01943" "SMO_000006" "g.128852075C>A" "" "" "" "SMO(NM_005631.4):c.2147C>A (p.A716E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129212234C>A" "" "likely benign" "" "0000530910" "0" "30" "7" "128852183" "128852183" "subst" "0" "01804" "SMO_000007" "g.128852183C>T" "" "" "" "SMO(NM_005631.4):c.2255C>T (p.(Ala752Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129212342C>T" "" "likely benign" "" "0000595760" "0" "70" "7" "128843395" "128843395" "subst" "0" "03415" "SMO_000008" "g.128843395C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.129203554C>G" "" "VUS" "" "0000610855" "0" "50" "7" "128843374" "128843374" "subst" "0" "02325" "SMO_000009" "g.128843374C>T" "" "" "" "SMO(NM_005631.5):c.481C>T (p.R161W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129203533C>T" "" "VUS" "" "0000610856" "0" "50" "7" "128843378" "128843378" "subst" "0" "02325" "SMO_000010" "g.128843378G>T" "" "" "" "SMO(NM_005631.5):c.485G>T (p.G162V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129203537G>T" "" "VUS" "" "0000621833" "0" "30" "7" "128845522" "128845522" "subst" "0" "01943" "SMO_000011" "g.128845522C>T" "" "" "" "SMO(NM_005631.4):c.819C>T (p.C273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129205681C>T" "" "likely benign" "" "0000645302" "0" "90" "7" "128846398" "128846398" "subst" "0" "00006" "SMO_000001" "g.128846398C>T" "" "{PMID:Lee 2019:31607746}" "" "" "" "De novo" "" "" "0" "" "" "g.129206557C>T" "{CV:000930574.1}" "pathogenic (dominant)" "" "0000652183" "1" "50" "7" "128843396" "128843396" "subst" "0.00741534" "03575" "SMO_000012" "g.128843396G>A" "246/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 246 heterozygous; {DB:CLININrs61746143}" "Germline" "" "rs61746143" "0" "" "" "g.129203555G>A" "" "VUS" "" "0000652184" "1" "90" "7" "128850838" "128850838" "subst" "4.07242E-5" "03575" "SMO_000013" "g.128850838G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121918348}" "Germline" "" "rs121918348" "0" "" "" "g.129210997G>A" "" "pathogenic" "" "0000652185" "1" "30" "7" "128851867" "128851867" "subst" "0.00502179" "03575" "SMO_000014" "g.128851867C>T" "7/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs34545616}" "Germline" "" "rs34545616" "0" "" "" "g.129212026C>T" "" "likely benign" "" "0000660166" "11" "70" "7" "128845484" "128845484" "subst" "8.12401E-6" "03570" "SMO_000016" "g.128845484C>T" "" "{PMID:Le 2020:32413283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.129205643C>T" "" "likely pathogenic (recessive)" "" "0000660167" "21" "70" "7" "128848674" "128848674" "subst" "0" "03570" "SMO_000015" "g.128848674G>T" "" "{PMID:Le 2020:32413283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.129208833G>T" "" "likely pathogenic (recessive)" "" "0000667043" "11" "70" "7" "128852219" "128852220" "del" "0" "03570" "SMO_000021" "g.128852219_128852220del" "" "{PMID:Le 2020:32413283}" "" "" "" "Germline" "" "" "0" "" "" "g.129212378_129212379del" "" "likely pathogenic (recessive)" "" "0000667044" "21" "70" "7" "128778323" "128840721" "del" "0" "03570" "SMO_000017" "g.128778323_128840721del" "" "{PMID:Le 2020:32413283}" "" "g.128778292_128840690del" "" "Germline" "" "" "0" "" "" "g.129138234_129200632del" "" "likely pathogenic (recessive)" "" "0000667045" "3" "70" "7" "128848620" "128848620" "subst" "0" "03570" "SMO_000018" "g.128848620A>T" "" "{PMID:Le 2020:32413283}" "" "" "" "Germline" "" "" "0" "" "" "g.129208779A>T" "" "likely pathogenic (recessive)" "" "0000667046" "11" "70" "7" "128850879" "128850879" "subst" "1.21963E-5" "03570" "SMO_000019" "g.128850879C>T" "" "{PMID:Le 2020:32413283}" "" "" "" "Germline" "" "" "0" "" "" "g.129211038C>T" "" "likely pathogenic (recessive)" "" "0000667047" "21" "70" "7" "128850880" "128850880" "subst" "4.06494E-6" "03570" "SMO_000020" "g.128850880G>A" "" "{PMID:Le 2020:32413283}" "" "" "" "Germline" "" "" "0" "" "" "g.129211039G>A" "" "likely pathogenic (recessive)" "" "0000667048" "3" "70" "7" "128850879" "128850879" "subst" "1.21963E-5" "03570" "SMO_000019" "g.128850879C>T" "" "{PMID:Le 2020:32413283}" "" "" "" "Germline" "" "" "0" "" "" "g.129211038C>T" "" "likely pathogenic (recessive)" "" "0000667049" "3" "70" "7" "128850879" "128850879" "subst" "1.21963E-5" "03570" "SMO_000019" "g.128850879C>T" "" "{PMID:Le 2020:32413283}" "" "" "" "Germline" "" "" "0" "" "" "g.129211038C>T" "" "likely pathogenic (recessive)" "" "0000669949" "3" "50" "7" "128843396" "128843396" "subst" "0.00741534" "03575" "SMO_000012" "g.128843396G>A" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 5 homozygous; {DB:CLININrs61746143}" "Germline" "" "rs61746143" "0" "" "" "g.129203555G>A" "" "VUS" "" "0000677999" "0" "30" "7" "128846367" "128846367" "subst" "0.00590849" "01943" "SMO_000022" "g.128846367G>C" "" "" "" "SMO(NM_005631.4):c.1203G>C (p.A401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689921" "0" "30" "7" "128829152" "128829152" "subst" "0.000518993" "01943" "SMO_000023" "g.128829152G>A" "" "" "" "SMO(NM_005631.4):c.160G>A (p.V54M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721286" "0" "50" "7" "128829272" "128829272" "subst" "0" "01943" "SMO_000024" "g.128829272G>A" "" "" "" "SMO(NM_005631.4):c.280G>A (p.G94R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721287" "0" "90" "7" "128850348" "128850348" "subst" "0" "02325" "SMO_000025" "g.128850348G>A" "" "" "" "SMO(NM_005631.5):c.1611G>A (p.W537*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721288" "0" "50" "7" "128851596" "128851596" "subst" "0.00043455" "02325" "SMO_000026" "g.128851596C>G" "" "" "" "SMO(NM_005631.5):c.1921C>G (p.(Pro641Ala), p.P641A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721289" "0" "50" "7" "128852021" "128852021" "subst" "0.00177632" "01943" "SMO_000027" "g.128852021C>G" "" "" "" "SMO(NM_005631.4):c.2093C>G (p.P698R), SMO(NM_005631.5):c.2093C>G (p.P698R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000791111" "1" "70" "7" "128846363" "128846363" "subst" "8.12143E-6" "04116" "SMO_000028" "g.128846363G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000791112" "2" "90" "7" "128849188" "128849188" "subst" "1.62446E-5" "04116" "SMO_000029" "g.128849188C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000791113" "11" "70" "7" "128846363" "128846363" "subst" "8.12143E-6" "04116" "SMO_000028" "g.128846363G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.129206522G>A" "" "likely pathogenic" "ACMG" "0000791114" "21" "90" "7" "128849188" "128849188" "subst" "1.62446E-5" "04116" "SMO_000029" "g.128849188C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.129209347C>T" "" "likely pathogenic" "ACMG" "0000791115" "21" "90" "7" "128849188" "128849188" "subst" "1.62446E-5" "04116" "SMO_000029" "g.128849188C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.129209347C>T" "" "likely pathogenic" "ACMG" "0000791116" "11" "70" "7" "128846363" "128846363" "subst" "8.12143E-6" "04116" "SMO_000028" "g.128846363G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000802940" "0" "30" "7" "128845241" "128845241" "subst" "0.00344739" "01943" "SMO_000030" "g.128845241G>A" "" "" "" "SMO(NM_005631.4):c.735G>A (p.T245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802941" "0" "70" "7" "128848611" "128848612" "del" "0" "01943" "SMO_000031" "g.128848611_128848612del" "" "" "" "SMO(NM_005631.4):c.1276_1277delCT (p.L426Vfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000802942" "0" "30" "7" "128852193" "128852193" "subst" "1.62735E-5" "01943" "SMO_000032" "g.128852193C>T" "" "" "" "SMO(NM_005631.4):c.2265C>T (p.P755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000830153" "0" "70" "7" "128849225" "128849225" "subst" "0" "04116" "SMO_000033" "g.128849225C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.129209384C>G" "" "VUS" "" "0000830154" "0" "70" "7" "128848611" "128848612" "del" "0" "04116" "SMO_000031" "g.128848611_128848612del" "" "" "" "1274_1275del" "" "Somatic" "" "" "0" "" "" "g.129208770_129208771del" "" "VUS" "" "0000860646" "0" "90" "7" "128845068" "128845071" "del" "0" "01943" "SMO_000034" "g.128845068_128845071del" "" "" "" "SMO(NM_005631.4):c.562_565delAACA (p.N188Vfs*113)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860647" "0" "90" "7" "128845073" "128845076" "del" "0" "01943" "SMO_000035" "g.128845073_128845076del" "" "" "" "SMO(NM_005631.4):c.567_570delTTCA (p.S189Rfs*112)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912666" "0" "50" "7" "128829056" "128829061" "dup" "0" "02325" "SMO_000036" "g.128829056_128829061dup" "" "" "" "SMO(NM_005631.5):c.64_69dupCTGCTG (p.L22_L23dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977529" "0" "30" "7" "128851596" "128851596" "subst" "0.00043455" "01804" "SMO_000026" "g.128851596C>G" "" "" "" "SMO(NM_005631.5):c.1921C>G (p.(Pro641Ala), p.P641A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025349" "0" "50" "7" "128852021" "128852021" "subst" "0.00177632" "02325" "SMO_000027" "g.128852021C>G" "" "" "" "SMO(NM_005631.4):c.2093C>G (p.P698R), SMO(NM_005631.5):c.2093C>G (p.P698R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036134" "0" "50" "7" "128829059" "128829061" "del" "0" "01804" "SMO_000037" "g.128829059_128829061del" "" "" "" "SMO(NM_005631.5):c.67_69del (p.(Leu23del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036135" "0" "50" "7" "128829107" "128829130" "del" "0" "01804" "SMO_000038" "g.128829107_128829130del" "" "" "" "SMO(NM_005631.5):c.115_138del (p.(Pro39_Gly46del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036136" "0" "50" "7" "128843278" "128843278" "subst" "0.000111214" "01804" "SMO_000039" "g.128843278G>A" "" "" "" "SMO(NM_005631.5):c.385G>A (p.(Val129Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036137" "0" "50" "7" "128843305" "128843305" "subst" "1.51599E-5" "01804" "SMO_000040" "g.128843305C>T" "" "" "" "SMO(NM_005631.5):c.412C>T (p.(Arg138Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036138" "0" "50" "7" "128850837" "128850837" "subst" "2.4465E-5" "01804" "SMO_000041" "g.128850837C>T" "" "" "" "SMO(NM_005631.5):c.1684C>T (p.(Arg562Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036139" "0" "90" "7" "128850838" "128850838" "subst" "4.07242E-5" "01804" "SMO_000013" "g.128850838G>A" "" "" "" "SMO(NM_005631.5):c.1685G>A (p.(Arg562Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001036140" "0" "50" "7" "128851557" "128851557" "subst" "8.1246E-6" "01804" "SMO_000042" "g.128851557C>T" "" "" "" "SMO(NM_005631.5):c.1882C>T (p.(Arg628Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036141" "0" "50" "7" "128852024" "128852024" "subst" "0" "01804" "SMO_000043" "g.128852024G>A" "" "" "" "SMO(NM_005631.5):c.2096G>A (p.(Ser699Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036142" "0" "50" "7" "128852105" "128852105" "subst" "0.000598894" "01804" "SMO_000044" "g.128852105G>A" "" "" "" "SMO(NM_005631.5):c.2177G>A (p.(Arg726Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036143" "0" "50" "7" "128852242" "128852242" "subst" "0.000265174" "01804" "SMO_000045" "g.128852242C>T" "" "" "" "SMO(NM_005631.5):c.2314C>T (p.(Arg772Cys))" "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 SMO ## Count = 64 "{{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}}" "0000079506" "00019464" "00" "-7828929" "0" "6724031" "0" "c.-7828929_*6721667del" "r.0?" "p.0?" "" "0000163095" "00019464" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Leu412Phe)" "6" "0000163096" "00019464" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Leu412Phe)" "6" "0000163097" "00019464" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Leu412Phe)" "6" "0000163098" "00019464" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Leu412Phe)" "6" "0000163099" "00019464" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Leu412Phe)" "6" "0000163100" "00019464" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Leu412Phe)" "6" "0000163101" "00019464" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Leu412Phe)" "6" "0000163102" "00019464" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Leu412Phe)" "6" "0000530906" "00019464" "30" "125" "0" "125" "0" "c.125G>A" "r.(?)" "p.(Arg42Gln)" "" "0000530907" "00019464" "30" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Val270Ile)" "" "0000530908" "00019464" "50" "2002" "0" "2002" "0" "c.2002C>T" "r.(?)" "p.(Arg668Cys)" "" "0000530909" "00019464" "30" "2147" "0" "2147" "0" "c.2147C>A" "r.(?)" "p.(Ala716Glu)" "" "0000530910" "00019464" "30" "2255" "0" "2255" "0" "c.2255C>T" "r.(?)" "p.(Ala752Val)" "" "0000595760" "00019464" "70" "502" "0" "502" "0" "c.502C>G" "r.(?)" "p.(Arg168Gly)" "" "0000610855" "00019464" "50" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Arg161Trp)" "" "0000610856" "00019464" "50" "485" "0" "485" "0" "c.485G>T" "r.(?)" "p.(Gly162Val)" "" "0000621833" "00019464" "30" "819" "0" "819" "0" "c.819C>T" "r.(?)" "p.(Cys273=)" "" "0000645302" "00019464" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Leu412Phe)" "" "0000652183" "00019464" "50" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "" "0000652184" "00019464" "90" "1685" "0" "1685" "0" "c.1685G>A" "r.(?)" "p.(Arg562Gln)" "" "0000652185" "00019464" "30" "1939" "0" "1939" "0" "c.1939C>T" "r.(?)" "p.(Pro647Ser)" "" "0000660166" "00019464" "70" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Cys)" "" "0000660167" "00019464" "70" "1339" "0" "1339" "0" "c.1339G>T" "r.(?)" "p.(Glu447*)" "" "0000667043" "00019464" "70" "2291" "0" "2292" "0" "c.2291_2292del" "r.2291_2292del" "p.Gln764Argfs*52" "" "0000667044" "00019464" "70" "-50670" "0" "332" "-2504" "c.-50670_332-2504del" "r.0?" "p.0?" "" "0000667045" "00019464" "70" "1285" "0" "1285" "0" "c.1285A>T" "r.[1285a>u,1265_1290del]" "p.[Ile429Phe,Gly422Glufs∗9]" "" "0000667046" "00019464" "70" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Arg576Trp)" "" "0000667047" "00019464" "70" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Arg576Gln)" "" "0000667048" "00019464" "70" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Arg576Trp)" "" "0000667049" "00019464" "70" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Arg576Trp)" "" "0000669949" "00019464" "50" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "" "0000677999" "00019464" "30" "1203" "0" "1203" "0" "c.1203G>C" "r.(?)" "p.(Ala401=)" "" "0000689921" "00019464" "30" "160" "0" "160" "0" "c.160G>A" "r.(?)" "p.(Val54Met)" "" "0000721286" "00019464" "50" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Gly94Arg)" "" "0000721287" "00019464" "90" "1611" "0" "1611" "0" "c.1611G>A" "r.(?)" "p.(Trp537*)" "" "0000721288" "00019464" "50" "1921" "0" "1921" "0" "c.1921C>G" "r.(?)" "p.(Pro641Ala)" "" "0000721289" "00019464" "50" "2093" "0" "2093" "0" "c.2093C>G" "r.(?)" "p.(Pro698Arg)" "" "0000791111" "00019464" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(1199g>a)" "p.(Arg400His)" "" "0000791112" "00019464" "90" "1416" "0" "1416" "0" "c.1416C>T" "r.[1416C>U, 1358_1466del]" "p.[Tyr472Tyr, Gly453AspfsTer6]" "" "0000791113" "00019464" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(1199g>a)" "p.(Arg400His)" "" "0000791114" "00019464" "90" "1416" "0" "1416" "0" "c.1416C>T" "r.[1416c>u,1358_1466del]" "p.[Tyr472Tyr,Gly453AspfsTer6]" "" "0000791115" "00019464" "90" "1416" "0" "1416" "0" "c.1416C>T" "r.[1416c>u,1358_1466del]" "p.[Tyr472Tyr,Gly453AspfsTer6]" "" "0000791116" "00019464" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(1199g>a)" "p.(Arg400His)" "" "0000802940" "00019464" "30" "735" "0" "735" "0" "c.735G>A" "r.(?)" "p.(Thr245=)" "" "0000802941" "00019464" "70" "1276" "0" "1277" "0" "c.1276_1277del" "r.(?)" "p.(Leu426Valfs*13)" "" "0000802942" "00019464" "30" "2265" "0" "2265" "0" "c.2265C>T" "r.(?)" "p.(Pro755=)" "" "0000830153" "00019464" "70" "1453" "0" "1453" "0" "c.1453C>G" "r.(?)" "p.(Arg485Gly)" "" "0000830154" "00019464" "70" "1276" "0" "1277" "0" "c.1276_1277del" "r.(?)" "p.(Leu426ValfsTer13)" "" "0000860646" "00019464" "90" "562" "0" "565" "0" "c.562_565del" "r.(?)" "p.(Asn188Valfs*113)" "" "0000860647" "00019464" "90" "567" "0" "570" "0" "c.567_570del" "r.(?)" "p.(Ser189Argfs*112)" "" "0000912666" "00019464" "50" "64" "0" "69" "0" "c.64_69dup" "r.(?)" "p.(Leu22_Leu23dup)" "" "0000977529" "00019464" "30" "1921" "0" "1921" "0" "c.1921C>G" "r.(?)" "p.(Pro641Ala)" "" "0001025349" "00019464" "50" "2093" "0" "2093" "0" "c.2093C>G" "r.(?)" "p.(Pro698Arg)" "" "0001036134" "00019464" "50" "67" "0" "69" "0" "c.67_69del" "r.(?)" "p.(Leu23del)" "" "0001036135" "00019464" "50" "115" "0" "138" "0" "c.115_138del" "r.(?)" "p.(Pro39_Gly46del)" "" "0001036136" "00019464" "50" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Val129Ile)" "" "0001036137" "00019464" "50" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Trp)" "" "0001036138" "00019464" "50" "1684" "0" "1684" "0" "c.1684C>T" "r.(?)" "p.(Arg562Trp)" "" "0001036139" "00019464" "90" "1685" "0" "1685" "0" "c.1685G>A" "r.(?)" "p.(Arg562Gln)" "" "0001036140" "00019464" "50" "1882" "0" "1882" "0" "c.1882C>T" "r.(?)" "p.(Arg628Trp)" "" "0001036141" "00019464" "50" "2096" "0" "2096" "0" "c.2096G>A" "r.(?)" "p.(Ser699Asn)" "" "0001036142" "00019464" "50" "2177" "0" "2177" "0" "c.2177G>A" "r.(?)" "p.(Arg726Gln)" "" "0001036143" "00019464" "50" "2314" "0" "2314" "0" "c.2314C>T" "r.(?)" "p.(Arg772Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000000107" "0000667049" "0000050526" "0000079506" "0000100728" "0000163095" "0000100729" "0000163096" "0000100730" "0000163097" "0000100731" "0000163098" "0000100732" "0000163099" "0000100733" "0000163100" "0000100734" "0000163101" "0000100735" "0000163102" "0000265178" "0000595760" "0000289373" "0000645302" "0000295494" "0000652183" "0000295495" "0000652184" "0000295496" "0000652185" "0000297552" "0000660166" "0000297552" "0000660167" "0000303678" "0000667043" "0000303678" "0000667044" "0000303680" "0000667045" "0000303681" "0000667046" "0000303681" "0000667047" "0000303683" "0000667048" "0000306261" "0000669949" "0000378360" "0000791111" "0000378361" "0000791112" "0000378363" "0000791113" "0000378363" "0000791114" "0000378364" "0000791115" "0000378364" "0000791116" "0000397967" "0000830153" "0000397967" "0000830154"