### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC39A5) # 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}}" "SLC39A5" "solute carrier family 39 (metal ion transporter), member 5" "12" "q13.3" "unknown" "NG_034265.1" "UD_132465263483" "" "https://www.LOVD.nl/SLC39A5" "" "1" "20502" "283375" "608730" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SLC39A5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-04-24 14:38:34" "00000" "2025-02-07 18:57:27" ## 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}}" "00019324" "SLC39A5" "transcript variant 1" "001" "NM_173596.2" "" "NP_775867.2" "" "" "" "-257" "1738" "1623" "56623820" "56631630" "" "0000-00-00 00:00:00" "" "" ## 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}}" "04142" "MYP24" "myopia, type 24, autosomal dominant (MYP-24)" "AD" "615946" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05323" "MYP" "myopia (MYP)" "" "" "" "" "" "00006" "2017-09-01 15:07:55" "" "" "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}}" "SLC39A5" "04142" "SLC39A5" "05323" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00000070" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00300239" "" "" "" "1" "" "00006" "{PMID:Liu 2020:32215939}" "" "M" "" "China" "" "0" "" "" "" "HM736" "00379707" "" "" "" "1" "" "00000" "{PMID:Wan 2018:30245926}" "" "?" "" "China" "" "0" "" "" "Han Chinese" "R0020" "00419899" "" "" "" "1" "" "00006" "{PMID:Angelozzi 2022:35232796}" "2-generation family, 1 affected, mildly affected mother" "M" "" "" "" "0" "" "" "" "Pat16" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00300239" "05323" "00379707" "04214" "00419899" "05323" "00419899" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04142, 04214, 05323, 05611 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000227541" "05323" "00300239" "00006" "Familial, autosomal dominant" "47y" "onset early childhood; refraction spherical equivalent OD –8.00, OS –20.50" "" "" "" "" "" "" "" "MYP24" "myopia" "0000273552" "04214" "00379707" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "high myopia" "0000311168" "05611" "00419899" "00006" "Unknown" "" "birth 40w; no IUGR; failure to thrive; picky eating, weight loss; hypotonia; global developmental delay; gross motor delay; fine motor delay; 10-11m-sit; 36m-walk; speech delay, 11m-first words; intellectual disability, IQ not formally assessed by neuropsychologist; behavioral problems; no hyperactivity/ADHD; no anxiety; no microcephaly; MRI brain normal; EEG normal; headaches with emesis 2-3 days a week; Prescribed glasses, presumably because of myopia; no strabismus; normal hearing; broad forehead, small palpebral fissures, triangular face with pointed chin, low-set and posteriorly rotated ears; skin lesions (tags vs nevi); 5y-poor dentition with pulpectomy and crowns; slender fingers with broader thumbs and halluxes, prominent heels; no ventricular septal defect; no atrial septal defect; no patent foramen; no vascular anomalies; no gastrointestinal findings; no genitourinary findings" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000070" "00000070" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000301356" "00300239" "1" "00006" "00006" "2020-04-24 14:46:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000380909" "00379707" "1" "00000" "03840" "2021-08-06 16:45:16" "" "" "SEQ-NG-I" "DNA" "blood" "Whole-exome sequencing" "0000421204" "00419899" "1" "00006" "00006" "2022-10-24 18:06:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000000070" "ACADSB" "0000000070" "ATP7B" "0000000070" "CFTR" "0000000070" "ETFB" "0000000070" "HBA1" "0000000070" "IGHMBP2" "0000000070" "MTHFR" "0000000070" "MYO5A" "0000000070" "SERPINA1" "0000000070" "SLC26A2" "0000301356" "SLC39A5" ## 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 = 29 "{{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}}" "0000000109" "0" "50" "1" "11850927" "11850927" "subst" "0.055472" "00002" "MTHFR_000001" "g.11850927C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.11790870C>T" "" "VUS" "" "0000548696" "0" "50" "12" "56625097" "56625097" "subst" "8.25478E-6" "01943" "ANKRD52_000001" "g.56625097C>G" "" "" "" "SLC39A5(NM_173596.2):c.39C>G (p.F13L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56231313C>G" "" "VUS" "" "0000548697" "0" "70" "12" "56631126" "56631129" "del" "0" "01943" "SLC39A5_000002" "g.56631126_56631129del" "" "" "" "SLC39A5(NM_173596.2):c.1479+2_1479+5delTGAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56237342_56237345del" "" "likely pathogenic" "" "0000614308" "0" "30" "12" "56625114" "56625114" "subst" "0.00559408" "01943" "ANKRD52_000002" "g.56625114T>C" "" "" "" "SLC39A5(NM_173596.2):c.56T>C (p.L19S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56231330T>C" "" "likely benign" "" "0000657158" "0" "70" "12" "56629438" "56629438" "del" "4.06319E-6" "02327" "ANKRD52_000003" "g.56629438del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56235654del" "" "likely pathogenic" "" "0000657159" "0" "50" "12" "56630505" "56630505" "subst" "0.000473276" "01943" "ANKRD52_000004" "g.56630505C>A" "" "" "" "SLC39A5(NM_173596.2):c.1182C>A (p.H394Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56236721C>A" "" "VUS" "" "0000664275" "1" "90" "12" "56629032" "56629032" "dup" "0" "00006" "SLC39A5_000003" "g.56629032dup" "" "{PMID:Liu 2020:32215939}" "" "" "" "Germline" "" "" "0" "" "" "g.56235248dup" "" "pathogenic (dominant)" "" "0000724149" "0" "30" "12" "56625235" "56625235" "subst" "0.000260997" "01943" "ANKRD52_000005" "g.56625235G>A" "" "" "" "SLC39A5(NM_173596.2):c.177G>A (p.A59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724150" "0" "30" "12" "56630788" "56630788" "subst" "0.000203257" "01943" "ANKRD52_000006" "g.56630788C>T" "" "" "" "SLC39A5(NM_173596.2):c.1281C>T (p.H427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724151" "0" "50" "12" "56631030" "56631030" "subst" "0" "01943" "ANKRD52_000007" "g.56631030T>C" "" "" "" "SLC39A5(NM_173596.2):c.1385T>C (p.L462P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805859" "0" "50" "12" "56622839" "56622839" "subst" "0" "01804" "ANKRD52_000009" "g.56622839G>A" "" "" "" "NABP2(NM_024068.3):c.478G>A (p.(Gly160Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805860" "0" "50" "12" "56625155" "56625155" "subst" "2.84761E-5" "01943" "ANKRD52_000010" "g.56625155G>C" "" "" "" "SLC39A5(NM_173596.2):c.97G>C (p.E33Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805861" "0" "30" "12" "56630416" "56630416" "subst" "0" "01943" "ANKRD52_000011" "g.56630416C>T" "" "" "" "SLC39A5(NM_173596.2):c.1093C>T (p.L365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853465" "0" "30" "12" "56631012" "56631012" "subst" "0.00218022" "01943" "ANKRD52_000014" "g.56631012G>C" "" "" "" "SLC39A5(NM_173596.2):c.1367G>C (p.G456A), SLC39A5(NM_173596.3):c.1367G>C (p.G456A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863073" "0" "30" "12" "56625099" "56625099" "subst" "2.88382E-5" "01943" "ANKRD52_000012" "g.56625099G>C" "" "" "" "SLC39A5(NM_173596.2):c.41G>C (p.C14S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863074" "0" "30" "12" "56628738" "56628738" "subst" "6.10739E-5" "01943" "ANKRD52_000013" "g.56628738C>T" "" "" "" "SLC39A5(NM_173596.2):c.602C>T (p.P201L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000881821" "21" "90" "12" "56628670" "56628670" "del" "2.03315E-5" "00006" "SLC39A5_000004" "g.56628670del" "" "" "" "534delT" "" "Germline" "yes" "" "0" "" "" "g.56234886del" "" "pathogenic (dominant)" "" "0000913909" "0" "30" "12" "56626573" "56626573" "subst" "0.00194471" "02330" "ANKRD52_000015" "g.56626573C>T" "" "" "" "SLC39A5(NM_173596.3):c.388C>T (p.R130C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913910" "0" "50" "12" "56630268" "56630268" "subst" "0" "02329" "ANKRD52_000016" "g.56630268C>G" "" "" "" "SLC39A5(NM_173596.3):c.1034C>G (p.A345G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913911" "0" "30" "12" "56631364" "56631364" "subst" "0.00187475" "02330" "ANKRD52_000017" "g.56631364T>C" "" "" "" "SLC39A5(NM_173596.3):c.1480-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949998" "0" "30" "12" "56630475" "56630475" "subst" "0.000497687" "02330" "ANKRD52_000018" "g.56630475G>A" "" "" "" "SLC39A5(NM_173596.3):c.1152G>A (p.T384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949999" "0" "30" "12" "56630976" "56630976" "subst" "4.08841E-5" "02330" "ANKRD52_000019" "g.56630976G>A" "" "" "" "SLC39A5(NM_173596.3):c.1331G>A (p.R444Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967004" "0" "30" "12" "56631012" "56631012" "subst" "0.00218022" "02330" "ANKRD52_000014" "g.56631012G>C" "" "" "" "SLC39A5(NM_173596.2):c.1367G>C (p.G456A), SLC39A5(NM_173596.3):c.1367G>C (p.G456A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967005" "0" "30" "12" "56631452" "56631452" "subst" "0.000121575" "02330" "ANKRD52_000022" "g.56631452C>T" "" "" "" "SLC39A5(NM_173596.3):c.1560C>T (p.G520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000248" "0" "50" "12" "56630444" "56630444" "subst" "0.0154412" "01804" "ANKRD52_000023" "g.56630444G>C" "" "" "" "SLC39A5(NM_173596.2):c.1121G>C (p.(Ser374Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000249" "0" "30" "12" "56642623" "56642623" "subst" "0.000644215" "01804" "ANKRD52_000024" "g.56642623C>T" "" "" "" "ANKRD52(NM_173595.3):c.1624G>A (p.(Asp542Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015002" "0" "30" "12" "56631394" "56631394" "subst" "0.000772829" "02330" "ANKRD52_000025" "g.56631394C>T" "" "" "" "SLC39A5(NM_173596.3):c.1502C>T (p.P501L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026217" "0" "30" "12" "56625068" "56625068" "subst" "0.00171692" "02330" "ANKRD52_000026" "g.56625068T>C" "" "" "" "SLC39A5(NM_173596.3):c.10T>C (p.S4P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026218" "0" "30" "12" "56630209" "56630209" "subst" "0.000284243" "02330" "ANKRD52_000027" "g.56630209C>T" "" "" "" "SLC39A5(NM_173596.3):c.975C>T (p.L325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 SLC39A5 ## Count = 29 "{{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}}" "0000000109" "00019324" "70" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Arg)" "" "0000548696" "00019324" "50" "39" "0" "39" "0" "c.39C>G" "r.(?)" "p.(Phe13Leu)" "" "0000548697" "00019324" "70" "1479" "2" "1479" "5" "c.1479+2_1479+5del" "r.spl?" "p.?" "" "0000614308" "00019324" "30" "56" "0" "56" "0" "c.56T>C" "r.(?)" "p.(Leu19Ser)" "" "0000657158" "00019324" "70" "899" "0" "899" "0" "c.899del" "r.(?)" "p.(Val300GlyfsTer103)" "" "0000657159" "00019324" "50" "1182" "0" "1182" "0" "c.1182C>A" "r.(?)" "p.(His394Gln)" "" "0000664275" "00019324" "90" "726" "0" "726" "0" "c.726dup" "r.(?)" "p.(Arg243Thrfs*140)" "" "0000724149" "00019324" "30" "177" "0" "177" "0" "c.177G>A" "r.(?)" "p.(Ala59=)" "" "0000724150" "00019324" "30" "1281" "0" "1281" "0" "c.1281C>T" "r.(?)" "p.(His427=)" "" "0000724151" "00019324" "50" "1385" "0" "1385" "0" "c.1385T>C" "r.(?)" "p.(Leu462Pro)" "" "0000805859" "00019324" "50" "-1238" "0" "-1238" "0" "c.-1238G>A" "r.(?)" "p.(=)" "" "0000805860" "00019324" "50" "97" "0" "97" "0" "c.97G>C" "r.(?)" "p.(Glu33Gln)" "" "0000805861" "00019324" "30" "1093" "0" "1093" "0" "c.1093C>T" "r.(?)" "p.(Leu365=)" "" "0000853465" "00019324" "30" "1367" "0" "1367" "0" "c.1367G>C" "r.(?)" "p.(Gly456Ala)" "" "0000863073" "00019324" "30" "41" "0" "41" "0" "c.41G>C" "r.(?)" "p.(Cys14Ser)" "" "0000863074" "00019324" "30" "602" "0" "602" "0" "c.602C>T" "r.(?)" "p.(Pro201Leu)" "" "0000881821" "00019324" "90" "534" "0" "534" "0" "c.534del" "r.(?)" "p.(Arg179Valfs*224)" "" "0000913909" "00019324" "30" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Cys)" "" "0000913910" "00019324" "50" "1034" "0" "1034" "0" "c.1034C>G" "r.(?)" "p.(Ala345Gly)" "" "0000913911" "00019324" "30" "1480" "-8" "1480" "-8" "c.1480-8T>C" "r.(=)" "p.(=)" "" "0000949998" "00019324" "30" "1152" "0" "1152" "0" "c.1152G>A" "r.(?)" "p.(=)" "" "0000949999" "00019324" "30" "1331" "0" "1331" "0" "c.1331G>A" "r.(?)" "p.(Arg444Gln)" "" "0000967004" "00019324" "30" "1367" "0" "1367" "0" "c.1367G>C" "r.(?)" "p.(Gly456Ala)" "" "0000967005" "00019324" "30" "1560" "0" "1560" "0" "c.1560C>T" "r.(?)" "p.(=)" "" "0001000248" "00019324" "50" "1121" "0" "1121" "0" "c.1121G>C" "r.(?)" "p.(Ser374Thr)" "" "0001000249" "00019324" "30" "12731" "0" "12731" "0" "c.*11108C>T" "r.(=)" "p.(=)" "" "0001015002" "00019324" "30" "1502" "0" "1502" "0" "c.1502C>T" "r.(?)" "p.(Pro501Leu)" "" "0001026217" "00019324" "30" "10" "0" "10" "0" "c.10T>C" "r.(?)" "p.(Ser4Pro)" "" "0001026218" "00019324" "30" "975" "0" "975" "0" "c.975C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000000070" "0000000109" "0000301356" "0000664275" "0000380909" "0000000109" "0000421204" "0000881821"