### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDE11A) # 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}}" "PDE11A" "phosphodiesterase 11A" "2" "q31.3" "unknown" "NG_012168.1" "UD_132085396266" "" "https://www.LOVD.nl/PDE11A" "" "1" "8773" "50940" "604961" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PDE11A_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2018-10-23 23:37:12" "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}}" "00025334" "PDE11A" "transcript variant 4" "003" "NM_016953.3" "" "NP_058649.3" "" "" "" "-318" "8960" "2802" "178937482" "178487977" "00006" "2018-10-23 23:32:38" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02947" "PPNAD2" "adrenocortical disease, nodular, pigmented, primary, type 2 (PPNAD-2)" "AD" "610475" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PDE11A" "02947" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00177065" "" "" "" "1" "" "02552" "" "" "F" "no" "Switzerland" "" "0" "" "" "" "69314" "00292377" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308695" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00177065" "00344" "00292377" "00198" "00308695" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00344, 01157, 02947 ## Count = 3 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000141875" "00344" "00177065" "02552" "Unknown" "" "HP:0001252\r\nHP:0002066\r\nHP:0002007\r\nHP:0400005\r\nHP:0000457" "01y11m" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000177961" "00177065" "1" "02552" "02552" "2018-08-17 13:55:44" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000293545" "00292377" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309840" "00308695" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000309840" "PDE11A" ## 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}}" "0000003749" "0" "50" "2" "178658483" "178658483" "subst" "0" "00037" "PDE11A_000002" "g.178658483G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.177793756C>A" "" "VUS" "" "0000011729" "3" "50" "2" "178522419" "178522419" "subst" "0" "00037" "PDE11A_000001" "g.178522419C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.177657691C>G" "" "VUS" "" "0000248928" "0" "10" "2" "178936994" "178936994" "del" "0.00579969" "02325" "PDE11A_000013" "g.178936994del" "" "" "" "PDE11A(NM_016953.4):c.171delT (p.T58Pfs*41)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178072267del" "" "benign" "" "0000248986" "0" "10" "2" "178682655" "178682655" "subst" "0.322782" "02325" "PDE11A_000007" "g.178682655A>G" "" "" "" "PDE11A(NM_016953.4):c.1577-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177817928A>G" "" "benign" "" "0000296844" "0" "10" "2" "178682603" "178682603" "subst" "0.322209" "02325" "PDE11A_000006" "g.178682603T>C" "" "" "" "PDE11A(NM_016953.4):c.1626A>G (p.A542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177817876T>C" "" "benign" "" "0000296847" "0" "10" "2" "178936614" "178936614" "subst" "0.99838" "02325" "PDE11A_000012" "g.178936614C>T" "" "" "" "PDE11A(NM_016953.4):c.551G>A (p.R184Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178071887C>T" "" "benign" "" "0000296848" "0" "10" "2" "178936373" "178936373" "subst" "0.878207" "02325" "PDE11A_000011" "g.178936373T>G" "" "" "" "PDE11A(NM_016953.4):c.792A>C (p.T264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178071646T>G" "" "benign" "" "0000305323" "0" "30" "2" "178879055" "178879055" "subst" "0.00171209" "01943" "PDE11A_000010" "g.178879055C>T" "" "" "" "PDE11A(NM_016953.4):c.1045G>A (p.A349T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178014328C>T" "" "likely benign" "" "0000305324" "0" "30" "2" "178634082" "178634082" "subst" "0.000325386" "01943" "PDE11A_000004" "g.178634082G>A" "" "" "" "PDE11A(NM_016953.4):c.1757C>T (p.T586I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177769354G>A" "" "likely benign" "" "0000406003" "21" "30" "2" "178528608" "178528608" "subst" "0.00647111" "02552" "PDE11A_000008" "g.178528608T>C" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs74357545" "0" "" "" "g.177663880T>C" "" "likely benign" "" "0000406004" "11" "90" "2" "178565891" "178565891" "del" "0" "02552" "PDE11A_000009" "g.178565891del" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "" "0" "" "" "g.177701163del" "" "pathogenic" "" "0000510319" "0" "10" "2" "178494177" "178494179" "dup" "0" "02325" "PDE11A_000014" "g.178494177_178494179dup" "" "" "" "PDE11A(NM_016953.4):c.2761_2763dupTCC (p.S921dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177629449_177629451dup" "" "benign" "" "0000510320" "0" "10" "2" "178682558" "178682559" "ins" "0.314408" "02325" "PDE11A_000015" "g.178682558_178682559insTATAAAC" "" "" "" "PDE11A(NM_016953.4):c.1644+28_1644+29insTTATAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177817831_177817832insTATAAAC" "" "benign" "" "0000510321" "0" "50" "2" "178705087" "178705087" "subst" "0" "02327" "PDE11A_000016" "g.178705087G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177840360G>T" "" "VUS" "" "0000650234" "1" "70" "2" "178879115" "178879115" "subst" "0.000264501" "03575" "PDE11A_000017" "g.178879115G>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs188985665}" "Germline" "" "rs188985665" "0" "" "" "g.178014388G>A" "" "likely pathogenic" "" "0000676119" "0" "50" "2" "178534252" "178534252" "subst" "6.11038E-5" "01943" "PDE11A_000018" "g.178534252C>T" "" "" "" "PDE11A(NM_016953.4):c.2531G>A (p.R844Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684742" "0" "30" "2" "178936561" "178936561" "subst" "0.00571809" "00004" "PDE11A_000019" "g.178936561G>A" "frequency 0.035" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.178071834G>A" "" "likely benign" "" "0000688413" "0" "30" "2" "178483307" "178483307" "subst" "4.16821E-5" "01943" "TTC30A_000002" "g.178483307G>A" "" "" "" "TTC30A(NM_152275.4):c.123C>T (p.S41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688414" "0" "50" "2" "178682596" "178682596" "subst" "0.000195472" "01943" "PDE11A_000020" "g.178682596G>A" "" "" "" "PDE11A(NM_016953.4):c.1633C>T (p.R545*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688415" "0" "30" "2" "178879181" "178879181" "subst" "0.00290733" "01943" "PDE11A_000021" "g.178879181G>A" "" "" "" "PDE11A(NM_016953.4):c.919C>T (p.R307*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857878" "0" "90" "2" "178565848" "178565848" "subst" "3.25664E-5" "01943" "PDE11A_000022" "g.178565848C>T" "" "" "" "PDE11A(NM_016953.4):c.2244+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857879" "0" "50" "2" "178704985" "178704985" "subst" "0" "01943" "PDE11A_000023" "g.178704985T>C" "" "" "" "PDE11A(NM_016953.4):c.1493A>G (p.D498G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961444" "0" "50" "2" "178879150" "178879150" "subst" "0" "02325" "PDE11A_000024" "g.178879150C>T" "" "" "" "PDE11A(NM_016953.4):c.950G>A (p.G317E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974497" "0" "50" "2" "178494142" "178494143" "del" "8.12203E-6" "01804" "PDE11A_000025" "g.178494142_178494143del" "" "" "" "PDE11A(NM_016953.4):c.2794_2795del (p.(Arg932Glufs*16))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974498" "0" "30" "2" "178528608" "178528608" "subst" "0.00647111" "01804" "PDE11A_000008" "g.178528608T>C" "" "" "" "PDE11A(NM_016953.4):c.2632A>G (p.(Met878Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974499" "0" "30" "2" "178740656" "178740656" "subst" "8.13154E-5" "01804" "PDE11A_000026" "g.178740656G>A" "" "" "" "PDE11A(NM_016953.4):c.1303-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991851" "0" "30" "2" "178576563" "178576563" "subst" "8.13431E-6" "01804" "PDE11A_000027" "g.178576563G>A" "" "" "" "PDE11A(NM_016953.3):c.2087C>T (p.(Ala696Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991852" "0" "50" "2" "178592806" "178592806" "subst" "1.62994E-5" "01804" "PDE11A_000028" "g.178592806A>T" "" "" "" "PDE11A(NM_016953.3):c.1883T>A (p.(Leu628His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032553" "0" "50" "2" "178576501" "178576501" "subst" "0" "01804" "PDE11A_000029" "g.178576501C>T" "" "" "" "PDE11A(NM_016953.4):c.2149G>A (p.(Ala717Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032554" "0" "50" "2" "178685023" "178685023" "subst" "4.08457E-6" "01804" "PDE11A_000030" "g.178685023C>T" "" "" "" "PDE11A(NM_016953.4):c.1501-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032556" "0" "30" "2" "178879195" "178879195" "dup" "0" "01804" "PDE11A_000032" "g.178879195dup" "" "" "" "PDE11A(NM_016953.4):c.913-8dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032557" "0" "50" "2" "178969171" "178969172" "del" "0" "01804" "PDE11A_000033" "g.178969171_178969172del" "" "" "" "PDE11A(NM_001077197.2):c.20_21del (p.(Arg7ThrfsTer30))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050893" "0" "50" "2" "178592456" "178592456" "subst" "0.000703149" "01804" "PDE11A_000034" "g.178592456T>C" "" "" "" "PDE11A(NM_016953.4):c.1973A>G (p.(Tyr658Cys))" "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 PDE11A ## 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}}" "0000003749" "00025334" "50" "1737" "23073" "1737" "23073" "c.1737+23073C>T" "r.(=)" "p.(=)" "" "0000011729" "00025334" "50" "2646" "6175" "2646" "6175" "c.2646+6175G>C" "r.(=)" "p.(=)" "" "0000248928" "00025334" "10" "171" "0" "171" "0" "c.171del" "r.(?)" "p.(Thr58ProfsTer41)" "" "0000248986" "00025334" "10" "1577" "-3" "1577" "-3" "c.1577-3T>C" "r.spl?" "p.?" "" "0000296844" "00025334" "10" "1626" "0" "1626" "0" "c.1626A>G" "r.(?)" "p.(Ala542=)" "" "0000296847" "00025334" "10" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184Gln)" "" "0000296848" "00025334" "10" "792" "0" "792" "0" "c.792A>C" "r.(?)" "p.(Thr264=)" "" "0000305323" "00025334" "30" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Ala349Thr)" "" "0000305324" "00025334" "30" "1757" "0" "1757" "0" "c.1757C>T" "r.(?)" "p.(Thr586Ile)" "" "0000406003" "00025334" "30" "2632" "0" "2632" "0" "c.2632A>G" "r.(?)" "p.(Met878Val)" "" "0000406004" "00025334" "90" "2202" "0" "2202" "0" "c.2202del" "r.(?)" "p.(Glu734Aspfs*9)" "" "0000510319" "00025334" "10" "2761" "0" "2763" "0" "c.2761_2763dup" "r.(?)" "p.(Ser921dup)" "" "0000510320" "00025334" "10" "1644" "26" "1644" "27" "c.1644+26_1644+27insGTTTATA" "r.(=)" "p.(=)" "" "0000510321" "00025334" "50" "1391" "0" "1391" "0" "c.1391C>A" "r.(?)" "p.(Ser464Ter)" "" "0000650234" "00025334" "70" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Arg329*)" "" "0000676119" "00025334" "50" "2531" "0" "2531" "0" "c.2531G>A" "r.(?)" "p.(Arg844Gln)" "" "0000684742" "00025334" "30" "604" "0" "604" "0" "c.604C>T" "r.(?)" "p.(Arg202Cys)" "" "0000688413" "00025334" "30" "13630" "0" "13630" "0" "c.*10828C>T" "r.(=)" "p.(=)" "" "0000688414" "00025334" "50" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Ter)" "" "0000688415" "00025334" "30" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Arg307Ter)" "" "0000857878" "00025334" "90" "2244" "1" "2244" "1" "c.2244+1G>A" "r.spl?" "p.?" "" "0000857879" "00025334" "50" "1493" "0" "1493" "0" "c.1493A>G" "r.(?)" "p.(Asp498Gly)" "" "0000961444" "00025334" "50" "950" "0" "950" "0" "c.950G>A" "r.(?)" "p.(Gly317Glu)" "" "0000974497" "00025334" "50" "2794" "0" "2795" "0" "c.2794_2795del" "r.(?)" "p.(Arg932Glufs*16)" "" "0000974498" "00025334" "30" "2632" "0" "2632" "0" "c.2632A>G" "r.(?)" "p.(Met878Val)" "" "0000974499" "00025334" "30" "1303" "-6" "1303" "-6" "c.1303-6C>T" "r.(=)" "p.(=)" "" "0000991851" "00025334" "30" "2087" "0" "2087" "0" "c.2087C>T" "r.(?)" "p.(Ala696Val)" "" "0000991852" "00025334" "50" "1883" "0" "1883" "0" "c.1883T>A" "r.(?)" "p.(Leu628His)" "" "0001032553" "00025334" "50" "2149" "0" "2149" "0" "c.2149G>A" "r.(?)" "p.(Ala717Thr)" "" "0001032554" "00025334" "50" "1501" "-1" "1501" "-1" "c.1501-1G>A" "r.spl?" "p.?" "" "0001032556" "00025334" "30" "913" "-8" "913" "-8" "c.913-8dup" "r.(=)" "p.(=)" "" "0001032557" "00025334" "50" "-32007" "0" "-32006" "0" "c.-32007_-32006del" "r.(?)" "p.(=)" "" "0001050893" "00025334" "50" "1973" "0" "1973" "0" "c.1973A>G" "r.(?)" "p.(Tyr658Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003749" "0000000210" "0000011729" "0000177961" "0000406003" "0000177961" "0000406004" "0000293545" "0000650234" "0000309840" "0000684742"