### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AMELX) # 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}}" "AMELX" "amelogenin, X-linked" "X" "p22.31-p22.1" "unknown" "NG_012040.1" "UD_132118374448" "" "https://www.LOVD.nl/AMELX" "" "1" "461" "265" "300391" "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/AMELX_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2021-03-05 10:44:05" "00000" "2021-09-17 14:40:49" ## 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}}" "00025603" "AMELX" "transcript variant 3" "001" "NM_182680.1" "" "NP_872621.1" "" "" "" "-68" "767" "618" "11311533" "11318881" "00006" "2021-03-05 10:45:04" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-24 17:14:32" "02211" "AI-1E" "amelogenesis imperfecta, type IE (AI-1E)" "" "301200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:59:30" "05650" "AI" "amelogenesis imperfecta (AI)" "" "" "" "" "" "00006" "2019-09-11 22:21:30" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "AMELX" "02211" "AMELX" "05650" ## 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" "" "" "" "" "00173101" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173102" "" "" "" "30" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00335377" "" "" "00335364" "1" "" "00006" "{PMID:Kim 2020:31999931}" "PatIII1" "F;M" "" "" "" "0" "" "" "" "FamPatIII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00173101" "00187" "00173102" "00187" "00335377" "05650" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 01157, 02211, 05650 ## Count = 4 "{{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/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "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" "" "" "" "" "" "" "" "0000137965" "00187" "00173101" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137966" "00187" "00173102" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" ## 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" "" "" "0000173984" "00173101" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173985" "00173102" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000336606" "00335377" "1" "00006" "00006" "2021-03-05 10:49:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000173984" "DDX53" "0000173985" "DDX53" "0000336606" "AMELX" ## 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 = 31 "{{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}}" "0000006307" "20" "50" "X" "11313027" "11313027" "subst" "0" "00037" "ARHGAP6_000009" "g.11313027T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.11294907T>C" "" "VUS" "" "0000008367" "20" "50" "X" "11313027" "11313027" "subst" "0" "00037" "AMELX_000001" "g.11313027T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.11294907T>C" "" "VUS" "" "0000260831" "0" "30" "X" "11318722" "11318722" "subst" "0" "02326" "ARHGAP6_000028" "g.11318722T>C" "" "" "" "AMELX(NM_182680.1):c.613-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11300602T>C" "" "likely benign" "" "0000262413" "0" "50" "X" "11316694" "11316694" "subst" "0.0000279769" "01943" "ARHGAP6_000025" "g.11316694G>A" "" "" "" "AMELX(NM_182680.1):c.213G>A (p.M71I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11298574G>A" "" "VUS" "" "0000262877" "0" "30" "X" "11157210" "11157210" "subst" "0.0000196947" "01943" "ARHGAP6_000018" "g.11157210G>A" "" "" "" "ARHGAP6(NM_013427.2):c.2698C>T (p.P900S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11139090G>A" "" "likely benign" "" "0000262878" "0" "30" "X" "11682470" "11682470" "subst" "0.00021405" "01943" "ARHGAP6_000029" "g.11682470C>A" "" "" "" "ARHGAP6(NM_013427.2):c.479G>T (p.G160V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11664350C>A" "" "likely benign" "" "0000333152" "0" "50" "X" "11157158" "11157158" "subst" "0.0000427408" "01804" "ARHGAP6_000017" "g.11157158C>T" "" "" "" "ARHGAP6(NM_006125.2):c.*4820G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11139038C>T" "" "VUS" "" "0000333155" "0" "50" "X" "11160433" "11160433" "subst" "0.00000583529" "01804" "ARHGAP6_000021" "g.11160433T>A" "" "" "" "ARHGAP6(NM_013423.2):c.1568A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11142313T>A" "" "VUS" "" "0000333156" "0" "50" "X" "11187695" "11187695" "subst" "0.00000575344" "01804" "ARHGAP6_000022" "g.11187695C>T" "" "" "" "ARHGAP6(NM_006125.2):c.1739G>A (p.(Arg580Gln)), ARHGAP6(NM_013427.2):c.1739G>A (p.R580Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11169575C>T" "" "VUS" "" "0000333157" "0" "50" "X" "11206891" "11206891" "subst" "0.00000561896" "01804" "ARHGAP6_000023" "g.11206891G>A" "" "" "" "ARHGAP6(NM_006125.2):c.1034C>T (p.(Thr345Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11188771G>A" "" "VUS" "" "0000333159" "0" "50" "X" "11316954" "11316954" "del" "0" "01804" "ARHGAP6_000026" "g.11316954del" "" "" "" "AMELX(NM_182680.1):c.472del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11298834del" "" "VUS" "" "0000333160" "0" "30" "X" "11317062" "11317062" "subst" "0.0000396619" "01804" "ARHGAP6_000027" "g.11317062C>A" "" "" "" "AMELX(NM_001142.2):c.539C>A (p.(Pro180Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11298942C>A" "" "likely benign" "" "0000333161" "0" "50" "X" "11682620" "11682620" "subst" "0" "01804" "ARHGAP6_000030" "g.11682620T>C" "" "" "" "ARHGAP6(NM_006125.2):c.329A>G (p.(Gln110Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11664500T>C" "" "VUS" "" "0000394301" "1" "50" "X" "11316708" "11316708" "subst" "0" "00124" "ARHGAP6_000035" "g.11316708A>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.11298588A>G" "" "VUS" "" "0000394302" "1" "30" "X" "11316742" "11316742" "subst" "0.193864" "00124" "ARHGAP6_000036" "g.11316742C>T" "30/208 cases" "{PMID:Tarpey 2009:19377476}" "" "H87H" "recurrent, found 30 times" "Germline" "" "" "0" "" "" "g.11298622C>T" "" "likely benign" "" "0000573070" "0" "30" "X" "11157154" "11157154" "subst" "0.00155255" "01804" "ARHGAP6_000037" "g.11157154C>A" "" "" "" "ARHGAP6(NM_006125.2):c.*4824G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11139034C>A" "" "likely benign" "" "0000573071" "0" "30" "X" "11160419" "11160419" "subst" "0.00166228" "01804" "ARHGAP6_000038" "g.11160419G>T" "" "" "" "ARHGAP6(NM_006125.2):c.*1559C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11142299G>T" "" "likely benign" "" "0000573076" "0" "30" "X" "11196249" "11196249" "subst" "0" "01804" "ARHGAP6_000039" "g.11196249C>T" "" "" "" "ARHGAP6(NM_006125.2):c.1600G>A (p.(Asp534Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11178129C>T" "" "likely benign" "" "0000573077" "0" "50" "X" "11197547" "11197547" "subst" "0" "01943" "ARHGAP6_000040" "g.11197547A>G" "" "" "" "ARHGAP6(NM_013427.2):c.1355T>C (p.I452T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11179427A>G" "" "VUS" "" "0000573088" "0" "50" "X" "11206976" "11206976" "subst" "0" "01943" "ARHGAP6_000041" "g.11206976G>T" "" "" "" "ARHGAP6(NM_013427.2):c.949C>A (p.P317T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11188856G>T" "" "VUS" "" "0000573089" "0" "50" "X" "11207015" "11207015" "subst" "0.000016818" "01804" "ARHGAP6_000042" "g.11207015C>T" "" "" "" "ARHGAP6(NM_006125.2):c.910G>A (p.(Glu304Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11188895C>T" "" "VUS" "" "0000573090" "0" "10" "X" "11316959" "11316959" "subst" "0.00127821" "01943" "ARHGAP6_000043" "g.11316959G>T" "" "" "" "AMELX(NM_182680.1):c.478G>T (p.V160L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11298839G>T" "" "benign" "" "0000618910" "0" "50" "X" "11317017" "11317017" "subst" "0" "01943" "ARHGAP6_000045" "g.11317017A>G" "" "" "" "AMELX(NM_182680.1):c.536A>G (p.Q179R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11298897A>G" "" "VUS" "" "0000624384" "0" "30" "X" "11157406" "11157406" "subst" "0" "01943" "ARHGAP6_000044" "g.11157406C>T" "" "" "" "ARHGAP6(NM_013427.2):c.2502G>A (p.T834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11139286C>T" "" "likely benign" "" "0000659048" "0" "50" "X" "11187695" "11187695" "subst" "0.00000575344" "01943" "ARHGAP6_000022" "g.11187695C>T" "" "" "" "ARHGAP6(NM_006125.2):c.1739G>A (p.(Arg580Gln)), ARHGAP6(NM_013427.2):c.1739G>A (p.R580Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11169575C>T" "" "VUS" "" "0000682036" "0" "30" "X" "11197447" "11197447" "subst" "0.0000401985" "01943" "ARHGAP6_000046" "g.11197447C>T" "" "" "" "ARHGAP6(NM_013427.2):c.1455G>A (p.L485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693287" "0" "30" "X" "11316889" "11316889" "subst" "0.000319603" "01943" "ARHGAP6_000047" "g.11316889C>T" "" "" "" "AMELX(NM_182680.1):c.408C>T (p.P136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728350" "0" "30" "X" "11206890" "11206890" "subst" "0.00068574" "01943" "ARHGAP6_000048" "g.11206890C>T" "" "" "" "ARHGAP6(NM_013427.2):c.1035G>A (p.T345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728351" "0" "30" "X" "11207028" "11207028" "subst" "0" "01943" "ARHGAP6_000049" "g.11207028G>A" "" "" "" "ARHGAP6(NM_013427.2):c.897C>T (p.D299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728352" "0" "50" "X" "11316938" "11316938" "subst" "0.0000281635" "01943" "ARHGAP6_000050" "g.11316938C>G" "" "" "" "AMELX(NM_182680.1):c.457C>G (p.P153A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000736049" "11" "70" "X" "11316263" "11316263" "subst" "0" "00006" "AMELX_000002" "g.11316263T>C" "" "{PMID:Kim 2020:31999931}" "" "" "mini-gene splicing assay shows 100% inclusion of usually alternatively spliced exon 4" "Germline" "" "" "0" "" "" "g.11298143T>C" "" "likely pathogenic (!)" "" ## 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 AMELX ## Count = 31 "{{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}}" "0000006307" "00025603" "50" "54" "65" "54" "65" "c.54+65T>C" "r.(=)" "p.(=)" "" "0000008367" "00025603" "50" "54" "65" "54" "65" "c.54+65T>C" "r.(=)" "p.(=)" "" "0000260831" "00025603" "30" "613" "-5" "613" "-5" "c.613-5T>C" "r.spl?" "p.?" "" "0000262413" "00025603" "50" "213" "0" "213" "0" "c.213G>A" "r.(?)" "p.(Met71Ile)" "" "0000262877" "00025603" "30" "-154391" "0" "-154391" "0" "c.-154391G>A" "r.(?)" "p.(=)" "" "0000262878" "00025603" "30" "364356" "0" "364356" "0" "c.*363738C>A" "r.(=)" "p.(=)" "" "0000333152" "00025603" "50" "-154443" "0" "-154443" "0" "c.-154443C>T" "r.(?)" "p.(=)" "" "0000333155" "00025603" "50" "-151168" "0" "-151168" "0" "c.-151168T>A" "r.(?)" "p.(=)" "" "0000333156" "00025603" "50" "-123906" "0" "-123906" "0" "c.-123906C>T" "r.(?)" "p.(=)" "" "0000333157" "00025603" "50" "-104710" "0" "-104710" "0" "c.-104710G>A" "r.(?)" "p.(=)" "" "0000333159" "00025603" "50" "473" "0" "473" "0" "c.473del" "r.(?)" "p.(Pro158HisfsTer31)" "" "0000333160" "00025603" "30" "581" "0" "581" "0" "c.581C>A" "r.(?)" "p.(Pro194Gln)" "" "0000333161" "00025603" "50" "364506" "0" "364506" "0" "c.*363888T>C" "r.(=)" "p.(=)" "" "0000394301" "00025603" "50" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(His76Arg)" "" "0000394302" "00025603" "30" "261" "0" "261" "0" "c.261C>T" "r.(=)" "p.(=)" "" "0000573070" "00025603" "30" "-154447" "0" "-154447" "0" "c.-154447C>A" "r.(?)" "p.(=)" "" "0000573071" "00025603" "30" "-151182" "0" "-151182" "0" "c.-151182G>T" "r.(?)" "p.(=)" "" "0000573076" "00025603" "30" "-115352" "0" "-115352" "0" "c.-115352C>T" "r.(?)" "p.(=)" "" "0000573077" "00025603" "50" "-114054" "0" "-114054" "0" "c.-114054A>G" "r.(?)" "p.(=)" "" "0000573088" "00025603" "50" "-104625" "0" "-104625" "0" "c.-104625G>T" "r.(?)" "p.(=)" "" "0000573089" "00025603" "50" "-104586" "0" "-104586" "0" "c.-104586C>T" "r.(?)" "p.(=)" "" "0000573090" "00025603" "10" "478" "0" "478" "0" "c.478G>T" "r.(?)" "p.(Val160Leu)" "" "0000618910" "00025603" "50" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Gln179Arg)" "" "0000624384" "00025603" "30" "-154195" "0" "-154195" "0" "c.-154195C>T" "r.(?)" "p.(=)" "" "0000659048" "00025603" "50" "-123906" "0" "-123906" "0" "c.-123906C>T" "r.(?)" "p.(=)" "" "0000682036" "00025603" "30" "-114154" "0" "-114154" "0" "c.-114154C>T" "r.(?)" "p.(=)" "" "0000693287" "00025603" "30" "408" "0" "408" "0" "c.408C>T" "r.(?)" "p.(Pro136=)" "" "0000728350" "00025603" "30" "-104711" "0" "-104711" "0" "c.-104711C>T" "r.(?)" "p.(=)" "" "0000728351" "00025603" "30" "-104573" "0" "-104573" "0" "c.-104573G>A" "r.(?)" "p.(=)" "" "0000728352" "00025603" "50" "457" "0" "457" "0" "c.457C>G" "r.(?)" "p.(Pro153Ala)" "" "0000736049" "00025603" "70" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000000209" "0000006307" "0000000210" "0000008367" "0000173984" "0000394301" "0000173985" "0000394302" "0000336606" "0000736049"