### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EXPH5) # 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}}" "EXPH5" "exophilin 5" "11" "q22.3" "unknown" "NG_042852.1" "UD_136018908668" "" "https://www.LOVD.nl/EXPH5" "" "1" "30578" "23086" "612878" "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/EXPH5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-05-23 12:06:02" "00000" "2024-10-29 21:08:56" ## 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}}" "00007319" "EXPH5" "exophilin 5" "001" "NM_015065.2" "" "NP_055880.2" "" "" "" "-111" "10076" "5970" "108464374" "108376158" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03810" "EBNS" "epidermolysis bullosa, nonspecific, autosomal recessive (EBNS)" "AR" "615028" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05328" "epidermolysis bullosa" "epidermolysis bullosa" "" "" "" "" "" "00006" "2017-09-08 17:28:42" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "EXPH5" "03810" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00164458" "" "" "" "1" "" "02484" "" "" "M" "yes" "Iran" "03y" "0" "" "" "" "" "00218410" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00164458" "05328" "00218410" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03810, 05328 ## Count = 2 "{{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}}" "0000129508" "05328" "00164458" "02484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166894" "00198" "00218410" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252); Intellectual disability (HP:0001249); Vomiting (HP:0002013); Severe global developmental delay (HP:0011344); Absent speech (HP:0001344); Episodic vomiting (HP:0002572); Fragile skin (HP:0001030)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000165325" "00164458" "1" "02484" "02483" "2018-05-22 04:53:56" "00006" "2018-05-28 14:33:24" "SEQ-NG-I" "DNA" "BLOOD" "" "0000219481" "00218410" "1" "01807" "01807" "2019-01-29 15:03:07" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000165325" "COL17A1" "0000165325" "EXPH5" ## 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}}" "0000267917" "0" "90" "11" "108382317" "108382317" "subst" "0" "02325" "EXPH5_000005" "g.108382317G>C" "" "" "" "EXPH5(NM_015065.3):c.3917C>G (p.S1306*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108511590G>C" "" "pathogenic" "" "0000267919" "0" "30" "11" "108381605" "108381605" "subst" "0" "02325" "EXPH5_000003" "g.108381605T>C" "" "" "" "EXPH5(NM_015065.3):c.4629A>G (p.R1543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108510878T>C" "" "likely benign" "" "0000267920" "0" "30" "11" "108380369" "108380369" "subst" "4.88369E-5" "02325" "EXPH5_000002" "g.108380369C>T" "" "" "" "EXPH5(NM_015065.3):c.5865G>A (p.P1955=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108509642C>T" "" "likely benign" "" "0000267921" "0" "30" "11" "108380281" "108380281" "subst" "0.00270606" "02325" "EXPH5_000001" "g.108380281T>C" "" "" "" "EXPH5(NM_015065.3):c.5953A>G (p.K1985E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108509554T>C" "" "likely benign" "" "0000368987" "0" "90" "11" "108380812" "108380812" "subst" "5.73968E-5" "02484" "EXPH5_000006" "g.108380812G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.108510085G>A" "" "pathogenic" "" "0000454350" "3" "70" "11" "108380546" "108380546" "del" "0" "01807" "EXPH5_000007" "g.108380546del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.108509819del" "" "likely pathogenic" "" "0000542286" "0" "50" "11" "108380320" "108380320" "subst" "5.16716E-5" "01943" "EXPH5_000008" "g.108380320T>C" "" "" "" "EXPH5(NM_015065.3):c.5914A>G (p.T1972A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108509593T>C" "" "VUS" "" "0000542287" "0" "30" "11" "108381250" "108381250" "subst" "0.00172586" "01804" "EXPH5_000009" "g.108381250T>C" "" "" "" "EXPH5(NM_015065.2):c.4984A>G (p.(Asn1662Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108510523T>C" "" "likely benign" "" "0000542288" "0" "30" "11" "108381314" "108381314" "subst" "0" "02325" "EXPH5_000010" "g.108381314G>A" "" "" "" "EXPH5(NM_015065.3):c.4920C>T (p.N1640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108510587G>A" "" "likely benign" "" "0000542289" "0" "30" "11" "108381516" "108381516" "subst" "0.00171908" "01804" "EXPH5_000011" "g.108381516T>A" "" "" "" "EXPH5(NM_015065.2):c.4718A>T (p.(Asn1573Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108510789T>A" "" "likely benign" "" "0000542290" "0" "90" "11" "108382028" "108382028" "dup" "0" "02325" "EXPH5_000012" "g.108382028dup" "" "" "" "EXPH5(NM_015065.3):c.4211dupA (p.N1404Kfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108511301dup" "" "pathogenic" "" "0000542292" "0" "90" "11" "108382899" "108382900" "ins" "0" "02325" "EXPH5_000013" "g.108382899_108382900insAGA" "" "" "" "EXPH5(NM_015065.3):c.3334_3335insTCT (p.K1112delinsI*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108512172_108512173insAGA" "" "pathogenic" "" "0000542293" "0" "90" "11" "108382900" "108382900" "subst" "0" "02325" "EXPH5_000014" "g.108382900T>A" "" "" "" "EXPH5(NM_015065.3):c.3334A>T (p.K1112*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108512173T>A" "" "pathogenic" "" "0000542294" "0" "30" "11" "108382966" "108382966" "subst" "0.000368594" "01804" "EXPH5_000015" "g.108382966G>C" "" "" "" "EXPH5(NM_015065.2):c.3268C>G (p.(Leu1090Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108512239G>C" "" "likely benign" "" "0000542297" "0" "10" "11" "108384666" "108384666" "subst" "0.00532808" "01943" "EXPH5_000018" "g.108384666T>C" "" "" "" "EXPH5(NM_015065.3):c.1568A>G (p.H523R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108513939T>C" "" "benign" "" "0000542298" "0" "30" "11" "108385546" "108385546" "subst" "0" "01804" "EXPH5_000019" "g.108385546T>C" "" "" "" "EXPH5(NM_015065.2):c.688A>G (p.(Thr230Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108514819T>C" "" "likely benign" "" "0000613017" "0" "90" "11" "108383936" "108383936" "del" "0" "02325" "EXPH5_000020" "g.108383936del" "" "" "" "EXPH5(NM_015065.3):c.2303delA (p.K768Sfs*66)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108513209del" "" "pathogenic" "" "0000622537" "0" "50" "11" "108385051" "108385051" "subst" "4.08017E-6" "02325" "EXPH5_000021" "g.108385051T>C" "" "" "" "EXPH5(NM_015065.3):c.1183A>G (p.M395V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108514324T>C" "" "VUS" "" "0000679044" "0" "30" "11" "108383883" "108383883" "subst" "0.000508118" "01943" "EXPH5_000022" "g.108383883G>A" "" "" "" "EXPH5(NM_015065.3):c.2351C>T (p.P784L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723181" "0" "50" "11" "108380695" "108380695" "subst" "0.000166839" "02325" "EXPH5_000023" "g.108380695G>C" "" "" "" "EXPH5(NM_015065.3):c.5539C>G (p.R1847G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852745" "0" "50" "11" "108380479" "108380479" "subst" "3.77412E-5" "01943" "EXPH5_000024" "g.108380479G>C" "" "" "" "EXPH5(NM_015065.3):c.5755C>G (p.P1919A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852746" "0" "50" "11" "108380497" "108380497" "subst" "7.51987E-5" "02325" "EXPH5_000025" "g.108380497G>T" "" "" "" "EXPH5(NM_015065.3):c.5737C>A (p.P1913T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852747" "0" "30" "11" "108381373" "108381373" "subst" "0.000276236" "01943" "EXPH5_000027" "g.108381373G>A" "" "" "" "EXPH5(NM_015065.3):c.4861C>T (p.P1621S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862283" "0" "30" "11" "108380620" "108380620" "subst" "0.00583825" "01804" "EXPH5_000026" "g.108380620T>C" "" "" "" "EXPH5(NM_001144763.1):c.5386A>G (p.(Thr1796Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862284" "0" "30" "11" "108385518" "108385518" "subst" "0.000401393" "01943" "EXPH5_000028" "g.108385518C>G" "" "" "" "EXPH5(NM_015065.3):c.716G>C (p.R239T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862285" "0" "50" "11" "108409802" "108409802" "subst" "0.000393501" "01943" "EXPH5_000029" "g.108409802A>T" "" "" "" "EXPH5(NM_015065.3):c.392T>A (p.F131Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889585" "0" "30" "11" "108380281" "108380281" "subst" "0.00270606" "01943" "EXPH5_000001" "g.108380281T>C" "" "" "" "EXPH5(NM_015065.3):c.5953A>G (p.K1985E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889586" "0" "50" "11" "108382360" "108382360" "subst" "2.06935E-5" "01943" "EXPH5_000030" "g.108382360C>T" "" "" "" "EXPH5(NM_015065.3):c.3874G>A (p.A1292T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889587" "0" "90" "11" "108385295" "108385295" "del" "8.53485E-5" "02325" "EXPH5_000031" "g.108385295del" "" "" "" "EXPH5(NM_015065.3):c.939delG (p.N314Ifs*76)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000966136" "0" "50" "11" "108389000" "108389000" "subst" "2.84493E-5" "02325" "EXPH5_000032" "g.108389000G>A" "" "" "" "EXPH5(NM_015065.3):c.593C>T (p.P198L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014745" "0" "90" "11" "108383985" "108383985" "subst" "4.10469E-6" "02329" "EXPH5_000033" "g.108383985G>T" "" "" "" "EXPH5(NM_015065.3):c.2249C>A (p.S750*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014746" "0" "90" "11" "108385456" "108385456" "dup" "0" "02329" "EXPH5_000034" "g.108385456dup" "" "" "" "EXPH5(NM_015065.3):c.783dupA (p.H262Tfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014747" "0" "50" "11" "108412531" "108412531" "subst" "1.34649E-5" "02325" "EXPH5_000035" "g.108412531T>C" "" "" "" "EXPH5(NM_015065.3):c.128A>G (p.Q43R)" "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 EXPH5 ## 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}}" "0000267917" "00007319" "90" "3917" "0" "3917" "0" "c.3917C>G" "r.(?)" "p.(Ser1306Ter)" "" "0000267919" "00007319" "30" "4629" "0" "4629" "0" "c.4629A>G" "r.(?)" "p.(Arg1543=)" "" "0000267920" "00007319" "30" "5865" "0" "5865" "0" "c.5865G>A" "r.(?)" "p.(Pro1955=)" "" "0000267921" "00007319" "30" "5953" "0" "5953" "0" "c.5953A>G" "r.(?)" "p.(Lys1985Glu)" "" "0000368987" "00007319" "90" "5422" "0" "5422" "0" "c.5422C>T" "r.(5422c>u)" "p.(Arg1808*)" "6" "0000454350" "00007319" "70" "5690" "0" "5690" "0" "c.5690del" "r.(?)" "p.(Phe1897Serfs*2)" "" "0000542286" "00007319" "50" "5914" "0" "5914" "0" "c.5914A>G" "r.(?)" "p.(Thr1972Ala)" "" "0000542287" "00007319" "30" "4984" "0" "4984" "0" "c.4984A>G" "r.(?)" "p.(Asn1662Asp)" "" "0000542288" "00007319" "30" "4920" "0" "4920" "0" "c.4920C>T" "r.(?)" "p.(Asn1640=)" "" "0000542289" "00007319" "30" "4718" "0" "4718" "0" "c.4718A>T" "r.(?)" "p.(Asn1573Ile)" "" "0000542290" "00007319" "90" "4211" "0" "4211" "0" "c.4211dup" "r.(?)" "p.(Asn1404LysfsTer8)" "" "0000542292" "00007319" "90" "3334" "0" "3335" "0" "c.3334_3335insTCT" "r.(?)" "p.(Lys1112delinsIleTer)" "" "0000542293" "00007319" "90" "3334" "0" "3334" "0" "c.3334A>T" "r.(?)" "p.(Lys1112Ter)" "" "0000542294" "00007319" "30" "3268" "0" "3268" "0" "c.3268C>G" "r.(?)" "p.(Leu1090Val)" "" "0000542297" "00007319" "10" "1568" "0" "1568" "0" "c.1568A>G" "r.(?)" "p.(His523Arg)" "" "0000542298" "00007319" "30" "688" "0" "688" "0" "c.688A>G" "r.(?)" "p.(Thr230Ala)" "" "0000613017" "00007319" "90" "2303" "0" "2303" "0" "c.2303del" "r.(?)" "p.(Lys768SerfsTer66)" "" "0000622537" "00007319" "50" "1183" "0" "1183" "0" "c.1183A>G" "r.(?)" "p.(Met395Val)" "" "0000679044" "00007319" "30" "2351" "0" "2351" "0" "c.2351C>T" "r.(?)" "p.(Pro784Leu)" "" "0000723181" "00007319" "50" "5539" "0" "5539" "0" "c.5539C>G" "r.(?)" "p.(Arg1847Gly)" "" "0000852745" "00007319" "50" "5755" "0" "5755" "0" "c.5755C>G" "r.(?)" "p.(Pro1919Ala)" "" "0000852746" "00007319" "50" "5737" "0" "5737" "0" "c.5737C>A" "r.(?)" "p.(Pro1913Thr)" "" "0000852747" "00007319" "30" "4861" "0" "4861" "0" "c.4861C>T" "r.(?)" "p.(Pro1621Ser)" "" "0000862283" "00007319" "30" "5614" "0" "5614" "0" "c.5614A>G" "r.(?)" "p.(Thr1872Ala)" "" "0000862284" "00007319" "30" "716" "0" "716" "0" "c.716G>C" "r.(?)" "p.(Arg239Thr)" "" "0000862285" "00007319" "50" "392" "0" "392" "0" "c.392T>A" "r.(?)" "p.(Phe131Tyr)" "" "0000889585" "00007319" "30" "5953" "0" "5953" "0" "c.5953A>G" "r.(?)" "p.(Lys1985Glu)" "" "0000889586" "00007319" "50" "3874" "0" "3874" "0" "c.3874G>A" "r.(?)" "p.(Ala1292Thr)" "" "0000889587" "00007319" "90" "939" "0" "939" "0" "c.939del" "r.(?)" "p.(Asn314Ilefs*76)" "" "0000966136" "00007319" "50" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Pro198Leu)" "" "0001014745" "00007319" "90" "2249" "0" "2249" "0" "c.2249C>A" "r.(?)" "p.(Ser750*)" "" "0001014746" "00007319" "90" "783" "0" "783" "0" "c.783dup" "r.(?)" "p.(His262Thrfs*3)" "" "0001014747" "00007319" "50" "128" "0" "128" "0" "c.128A>G" "r.(?)" "p.(Gln43Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000165325" "0000368987" "0000219481" "0000454350"