### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMS) # 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}}" "SMS" "spermine synthase" "X" "p22.1" "unknown" "NG_009228.1" "UD_134408520125" "" "https://www.LOVD.nl/SMS" "" "1" "11123" "6611" "300105" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/SMS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-08-17 11:48:52" "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}}" "00019477" "SMS" "transcript variant 1" "001" "NM_004595.4" "" "NP_004586.2" "" "" "" "-252" "1587" "1101" "21958691" "22012955" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00820" "MRXSSR" "mental retardation, X-linked, Snyder-Robinson type (MRXSSR)" "XLR" "309583" "" "X-linked recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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 = 2 "{{geneid}}" "{{diseaseid}}" "SMS" "00139" "SMS" "00820" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00172542" "" "" "" "3" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172543" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00177014" "" "" "" "2" "" "02552" "{PMID:Abela 2016:26174906}" "3-generation family, affected twin brothers, unaffected heterozygous carrier mother" "M" "no" "Italy" "" "0" "" "" "" "72555" "00295014" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307817" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5410846" "00391600" "" "" "" "1" "" "02494" "" "" "M" "no" "Sri Lanka" "" "" "" "" "" "094P" "00434635" "" "" "" "1" "" "00006" "{PMID:Deshwar 2023:36990084}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "" "" "0" "" "" "" "CMC27" "00453451" "" "" "" "1" "" "02184" "" "" "M" "no" "France" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00172542" "00187" "00172543" "00187" "00177014" "00344" "00295014" "00198" "00307817" "00139" "00391600" "00198" "00434635" "05611" "00453451" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00344, 00820, 05611 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000137406" "00187" "00172542" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137407" "00187" "00172543" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000141831" "00344" "00177014" "02552" "Familial, X-linked recessive" "" "HP:0001252\r\nHP:0002509\r\nHP:0001266\r\nHP:0000219\r\nHP:0002705\r\nHP:000319\r\nHP:0000286\r\nHP:0000494\r\nHP:0000508\r\nHP:0011359\r\nHP:0100798" "01y00m" "" "" "" "" "" "" "" "" "Snyder-Robinson syndrome" "" "" "0000324885" "05611" "00434635" "00006" "Isolated (sporadic)" "" "global developmental delay, intellectual disability,, seizures" "" "" "" "" "" "" "" "" "" "MRXSSR" "neurodevelopmental delay" "" "0000342116" "00198" "00453451" "02184" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Snyder Robinson Syndrome" "neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000173425" "00172542" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173426" "00172543" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000177906" "00177014" "1" "02552" "02552" "2018-08-16 11:53:07" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000296182" "00295014" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308957" "00307817" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000392994" "00391600" "1" "02494" "02494" "2021-11-18 13:42:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000436106" "00434635" "1" "00006" "00006" "2023-04-04 15:42:03" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000455065" "00453451" "1" "02184" "02184" "2024-08-29 17:28:01" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000173425" "USP11" "0000173426" "USP11" "0000308957" "SMS" ## 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 = 33 "{{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}}" "0000248055" "0" "30" "X" "22010795" "22010795" "subst" "0.00366155" "02325" "SMS_000001" "g.22010795A>C" "" "" "" "SMS(NM_004595.4):c.1026A>C (p.S342=), SMS(NM_004595.5):c.1026A>C (p.S342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21992677A>C" "" "likely benign" "" "0000253316" "0" "10" "X" "22010795" "22010795" "subst" "0.00366155" "01943" "SMS_000001" "g.22010795A>C" "" "" "" "SMS(NM_004595.4):c.1026A>C (p.S342=), SMS(NM_004595.5):c.1026A>C (p.S342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21992677A>C" "" "benign" "" "0000256145" "0" "50" "X" "21996147" "21996147" "subst" "5.59344E-6" "01943" "SMS_000007" "g.21996147A>G" "" "" "" "SMS(NM_004595.4):c.575A>G (p.K192R), SMS(NM_004595.5):c.575A>G (p.(Lys192Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21978029A>G" "" "VUS" "" "0000302367" "0" "30" "X" "21985436" "21985436" "subst" "0" "02326" "SMS_000012" "g.21985436T>G" "" "" "" "SMS(NM_004595.5):c.170+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21967318T>G" "" "likely benign" "" "0000302368" "0" "10" "X" "21989965" "21989965" "subst" "0" "02326" "SMS_000003" "g.21989965T>A" "" "" "" "SMS(NM_004595.5):c.171-50T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21971847T>A" "" "benign" "" "0000302369" "0" "10" "X" "21989966" "21989966" "del" "0" "02326" "SMS_000013" "g.21989966del" "" "" "" "SMS(NM_004595.5):c.171-49delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21971848del" "" "benign" "" "0000302370" "0" "30" "X" "21990015" "21990015" "subst" "0.000201754" "02326" "SMS_000004" "g.21990015C>T" "" "" "" "SMS(NM_004595.4):c.171C>T (p.(=)), SMS(NM_004595.5):c.171C>T (p.S57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21971897C>T" "" "likely benign" "" "0000302371" "0" "30" "X" "21995367" "21995367" "subst" "5.62123E-6" "02326" "SMS_000006" "g.21995367T>C" "" "" "" "SMS(NM_004595.5):c.505+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21977249T>C" "" "likely benign" "" "0000302372" "0" "10" "X" "22002282" "22002282" "del" "0" "02326" "SMS_000008" "g.22002282del" "" "" "" "SMS(NM_004595.5):c.751-140delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21984164del" "" "benign" "" "0000308652" "0" "30" "X" "22002487" "22002487" "subst" "7.83226E-5" "01943" "SMS_000009" "g.22002487T>C" "" "" "" "SMS(NM_004595.4):c.816T>C (p.Y272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21984369T>C" "" "likely benign" "" "0000333417" "0" "50" "X" "21990688" "21990688" "subst" "0" "01804" "SMS_000005" "g.21990688C>T" "" "" "" "SMS(NM_001258423.1):c.171-4491C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21972570C>T" "" "VUS" "" "0000341839" "0" "70" "X" "21995237" "21995237" "subst" "0" "02327" "SMS_000010" "g.21995237C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21977119C>T" "" "likely pathogenic" "" "0000393282" "1" "30" "X" "22010795" "22010795" "subst" "0.00366155" "00124" "SMS_000001" "g.22010795A>C" "3/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S342S" "recurrent, found 3 times" "Germline" "" "" "0" "" "" "g.21992677A>C" "" "likely benign" "" "0000393283" "1" "50" "X" "21995298" "21995298" "subst" "0" "00124" "SMS_000002" "g.21995298T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.21977180T>C" "" "VUS" "" "0000400782" "21" "90" "X" "21995237" "21995237" "subst" "0" "02552" "SMS_000010" "g.21995237C>T" "" "{PMID:Abela 2016:26174906}, {PMID:Papuc 2019:30552426}" "" "" "de novo in mother" "Germline" "yes" "" "0" "" "" "g.21977119C>T" "" "pathogenic (recessive)" "" "0000575279" "0" "70" "X" "21985432" "21985432" "subst" "0" "02329" "SMS_000014" "g.21985432C>T" "" "" "" "SMS(NM_004595.5):c.168C>T (p.G56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21967314C>T" "" "likely pathogenic" "" "0000575281" "0" "30" "X" "21990015" "21990015" "subst" "0.000201754" "01804" "SMS_000004" "g.21990015C>T" "" "" "" "SMS(NM_004595.4):c.171C>T (p.(=)), SMS(NM_004595.5):c.171C>T (p.S57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21971897C>T" "" "likely benign" "" "0000575283" "0" "30" "X" "21996133" "21996133" "subst" "0.00025171" "02326" "SMS_000016" "g.21996133A>G" "" "" "" "SMS(NM_004595.5):c.561A>G (p.E187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21978015A>G" "" "likely benign" "" "0000575285" "0" "70" "X" "22002513" "22002513" "subst" "0" "02325" "SMS_000018" "g.22002513C>A" "" "" "" "SMS(NM_004595.5):c.842C>A (p.P281Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21984395C>A" "" "likely pathogenic" "" "0000575286" "0" "30" "X" "22010844" "22010844" "subst" "5.8571E-5" "02326" "SMS_000019" "g.22010844G>A" "" "" "" "SMS(NM_004595.5):c.1061+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21992726G>A" "" "likely benign" "" "0000652871" "1" "30" "X" "21996141" "21996141" "subst" "0.000184597" "03575" "SMS_000021" "g.21996141C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs201275730}" "Germline" "" "rs201275730" "0" "" "" "g.21978023C>T" "" "likely benign" "" "0000659246" "0" "30" "X" "22002548" "22002548" "subst" "0.000240923" "02326" "SMS_000022" "g.22002548T>C" "" "" "" "SMS(NM_004595.5):c.865+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21984430T>C" "" "likely benign" "" "0000683391" "0" "70" "X" "21985430" "21985430" "subst" "0" "00006" "SMS_000023" "g.21985430G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "rs121434610" "0" "" "" "g.21967312G>A" "" "likely pathogenic" "" "0000728765" "0" "50" "X" "22010788" "22010788" "subst" "1.68904E-5" "02329" "SMS_000024" "g.22010788A>G" "" "" "" "SMS(NM_004595.5):c.1019A>G (p.E340G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000823432" "21" "70" "X" "21995249" "21995249" "subst" "0" "02494" "SMS_000025" "g.21995249T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000856520" "0" "30" "X" "22002548" "22002548" "dup" "0" "01943" "SMS_000026" "g.22002548dup" "" "" "" "SMS(NM_004595.4):c.865+12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896063" "0" "50" "X" "22002498" "22002498" "subst" "0" "02325" "SMS_000027" "g.22002498A>T" "" "" "" "SMS(NM_004595.5):c.827A>T (p.D276V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922447" "0" "90" "X" "21990620" "21990620" "subst" "0" "00006" "SMS_000028" "g.21990620T>A" "" "{PMID:Deshwar 2023:36990084}" "" "" "" "De novo" "" "" "0" "" "" "g.21972502T>A" "" "likely pathogenic" "ACMG" "0000984609" "0" "30" "X" "21996147" "21996147" "subst" "5.59344E-6" "01804" "SMS_000007" "g.21996147A>G" "" "" "" "SMS(NM_004595.4):c.575A>G (p.K192R), SMS(NM_004595.5):c.575A>G (p.(Lys192Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006651" "0" "70" "X" "21997031" "21997031" "subst" "0" "01804" "SMS_000030" "g.21997031A>G" "" "" "" "SMS(NM_004595.4):c.697A>G (p.(Met233Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001006652" "0" "50" "X" "21997075" "21997075" "subst" "0" "01804" "SMS_000031" "g.21997075C>G" "" "" "" "SMS(NM_004595.4):c.741C>G (p.(Asp247Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007045" "21" "90" "X" "21996982" "21996982" "subst" "0" "02184" "SMS_000029" "g.21996982A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.21978864A>C" "" "likely pathogenic" "ACMG" "0001044258" "0" "50" "X" "21958982" "21958982" "subst" "0" "01804" "SMS_000032" "g.21958982G>C" "" "" "" "SMS(NM_004595.5):c.40G>C (p.(Gly14Arg))" "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 SMS ## Count = 33 "{{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}}" "0000248055" "00019477" "30" "1026" "0" "1026" "0" "c.1026A>C" "r.(?)" "p.(Ser342=)" "" "0000253316" "00019477" "10" "1026" "0" "1026" "0" "c.1026A>C" "r.(?)" "p.(Ser342=)" "" "0000256145" "00019477" "50" "575" "0" "575" "0" "c.575A>G" "r.(?)" "p.(Lys192Arg)" "" "0000302367" "00019477" "30" "170" "2" "170" "2" "c.170+2T>G" "r.spl?" "p.?" "" "0000302368" "00019477" "10" "171" "-50" "171" "-50" "c.171-50T>A" "r.(=)" "p.(=)" "" "0000302369" "00019477" "10" "171" "-49" "171" "-49" "c.171-49del" "r.(=)" "p.(=)" "" "0000302370" "00019477" "30" "171" "0" "171" "0" "c.171C>T" "r.(?)" "p.(Ser57=)" "" "0000302371" "00019477" "30" "505" "13" "505" "13" "c.505+13T>C" "r.(=)" "p.(=)" "" "0000302372" "00019477" "10" "751" "-140" "751" "-140" "c.751-140del" "r.(=)" "p.(=)" "" "0000308652" "00019477" "30" "816" "0" "816" "0" "c.816T>C" "r.(?)" "p.(Tyr272=)" "" "0000333417" "00019477" "50" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110Ter)" "" "0000341839" "00019477" "70" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Cys)" "" "0000393282" "00019477" "30" "1026" "0" "1026" "0" "c.1026A>C" "r.(=)" "p.(=)" "" "0000393283" "00019477" "50" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Ile150Thr)" "" "0000400782" "00019477" "90" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Cys)" "" "0000575279" "00019477" "70" "168" "0" "168" "0" "c.168C>T" "r.(?)" "p.(Gly56=)" "" "0000575281" "00019477" "30" "171" "0" "171" "0" "c.171C>T" "r.(?)" "p.(Ser57=)" "" "0000575283" "00019477" "30" "561" "0" "561" "0" "c.561A>G" "r.(?)" "p.(Glu187=)" "" "0000575285" "00019477" "70" "842" "0" "842" "0" "c.842C>A" "r.(?)" "p.(Pro281Gln)" "" "0000575286" "00019477" "30" "1061" "14" "1061" "14" "c.1061+14G>A" "r.(=)" "p.(=)" "" "0000652871" "00019477" "30" "569" "0" "569" "0" "c.569C>T" "r.(?)" "p.(Thr190Ile)" "" "0000659246" "00019477" "30" "865" "12" "865" "12" "c.865+12T>C" "r.(=)" "p.(=)" "" "0000683391" "00019477" "70" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Gly56Ser)" "" "0000728765" "00019477" "50" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Glu340Gly)" "" "0000823432" "00019477" "70" "400" "0" "400" "0" "c.400T>C" "r.(?)" "p.(Tyr134His)" "" "0000856520" "00019477" "30" "865" "12" "865" "12" "c.865+12dup" "r.(=)" "p.(=)" "" "0000896063" "00019477" "50" "827" "0" "827" "0" "c.827A>T" "r.(?)" "p.(Asp276Val)" "" "0000922447" "00019477" "90" "265" "-5" "265" "-5" "c.265-5T>A" "r.[265_329del,171_329del,264_265ins[264+1_265-6;aguag]]" "p.?" "3i" "0000984609" "00019477" "30" "575" "0" "575" "0" "c.575A>G" "r.(?)" "p.(Lys192Arg)" "" "0001006651" "00019477" "70" "697" "0" "697" "0" "c.697A>G" "r.(?)" "p.(Met233Val)" "" "0001006652" "00019477" "50" "741" "0" "741" "0" "c.741C>G" "r.(?)" "p.(Asp247Glu)" "" "0001007045" "00019477" "90" "661" "-13" "661" "-13" "c.661-13A>C" "r.spl?" "p.?" "" "0001044258" "00019477" "50" "40" "0" "40" "0" "c.40G>C" "r.(?)" "p.(Gly14Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000173425" "0000393282" "0000173426" "0000393283" "0000177906" "0000400782" "0000296182" "0000652871" "0000308957" "0000683391" "0000392994" "0000823432" "0000436106" "0000922447" "0000455065" "0001007045"