### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GALE) # 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}}" "GALE" "UDP-galactose-4-epimerase" "1" "p36-p35" "unknown" "NC_000001.10" "UD_132118974187" "" "https://www.LOVD.nl/GALE" "" "1" "4116" "2582" "606953" "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/GALE_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-10-12 19:00:23" "00006" "2026-10-12 20:35:16" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00008315" "GALE" "transcript variant 1" "002" "NM_000403.3" "" "NP_000394.2" "" "" "" "-234" "1397" "1047" "24127034" "24122089" "" "0000-00-00 00:00:00" "" "" "00026003" "GALE" "transcript variant 2" "000" "NM_001008216.2" "" "NP_001008217.1" "" "" "MANE select" "-119" "1397" "1047" "1" "1" "00006" "2025-08-11 12:33:07" "" "" ## 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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "01799" "GALAC3" "galactose epimerase deficiency (UDPglucose-4-epimerase deficiency)" "AR" "230350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" "07283" "THC13" "thrombocytopenia, type 13" "AR" "620776" "" "" "" "00006" "2026-10-12 19:01:39" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "GALE" "00139" "GALE" "01799" "GALE" "07283" ## 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}}" "00395571" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-0897" "00466211" "" "" "" "1" "" "00006" "{PMID:Soriano-Sexto 2022:36361642}, {DOI:Soriano-Sexto 2022:10.3390/ijms232112850}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Spain" "" "0" "" "" "" "Pat1" "00470682" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected" "F" "" "Poland" "" "0" "" "" "" "Pat43" "00487449" "" "" "" "1" "" "00006" "{PMID:Javadiyan 2018:29770612}" "" "M" "" "Bhutan" "" "0" "" "" "" "E1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00395571" "00198" "00466211" "00198" "00470682" "07210" "00487449" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00296, 01799, 07210, 07283 ## Count = 4 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000288769" "00198" "00395571" "00000" "Familial, autosomal recessive" "" "rod-cone dystrophy, obesity, galactosuria, iga and igm deficiency, impairment of galactose metabolism, splenomegaly, fatigue, global developmental delay, hyperactivity, hyperkinesis, intellectual disability, mild, specific learning disability, leukopenia, megaloblastic anemia, thrombocytopenia, pancytopenia, atopic dermatitis, bruising susceptibility; affected sibling with similar clinical presentation, additional hepatomegaly" "" "" "" "" "" "" "" "Mixed" "" "" "0000351593" "00198" "00466211" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., galactosemia" "" "4m" "" "" "" "" "" "GALAC3" "galactosemia" "" "0000355576" "07210" "00470682" "00006" "Isolated (sporadic)" "14y" "see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" "0000369900" "00296" "00487449" "00006" "Unknown" "13y" "see paper; ..., congenital cataract, amblyopia, retinal dystrophy" "" "" "" "" "" "" "" "GALAC3" "cataract" "" ## 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}}" "0000396809" "00395571" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "whole exome sequencing" "0000467867" "00466211" "1" "00006" "00006" "2025-08-11 12:22:29" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472349" "00470682" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000489108" "00487449" "1" "00006" "00006" "2026-10-12 20:35:13" "" "" "SEQ;SEQ-NG" "DNA" "" "51-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000396809" "GALE" "0000467867" "GALE" ## 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 = 26 "{{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}}" "0000249313" "0" "30" "1" "24122723" "24122723" "subst" "0" "02325" "GALE_000002" "g.24122723A>C" "" "" "" "GALE(NM_000403.4):c.906T>G (p.G302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23796233A>C" "" "likely benign" "" "0000281381" "0" "50" "1" "24130961" "24130961" "subst" "4.06078E-6" "02325" "HMGCL_000002" "g.24130961C>T" "" "" "" "HMGCL(NM_000191.3):c.805G>A (p.A269T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23804471C>T" "" "VUS" "" "0000288172" "0" "30" "1" "24122666" "24122666" "subst" "0" "01943" "GALE_000001" "g.24122666T>C" "" "" "" "GALE(NM_000403.3):c.963A>G (p.T321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23796176T>C" "" "likely benign" "" "0000320644" "0" "50" "1" "24122733" "24122733" "subst" "4.0623E-6" "01804" "GALE_000003" "g.24122733C>T" "" "" "" "GALE(NM_001008216.2):c.896G>A (p.(Arg299Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23796243C>T" "" "VUS" "" "0000320646" "0" "50" "1" "24128981" "24128981" "subst" "2.43639E-5" "01804" "HMGCL_000001" "g.24128981T>C" "" "" "" "HMGCL(NM_000191.2):c.950A>G (p.(Lys317Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23802491T>C" "" "VUS" "" "0000506614" "0" "90" "1" "24130889" "24130889" "subst" "0" "02327" "HMGCL_000014" "g.24130889C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23804399C>G" "" "pathogenic" "" "0000605578" "0" "30" "1" "24122667" "24122667" "subst" "0" "01804" "GALE_000006" "g.24122667G>A" "" "" "" "GALE(NM_000403.3):c.962C>T (p.(Thr321Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23796177G>A" "" "likely benign" "" "0000653975" "0" "30" "1" "24131018" "24131018" "subst" "4.06405E-6" "01943" "HMGCL_000015" "g.24131018A>G" "" "" "" "HMGCL(NM_000191.2):c.751-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23804528A>G" "" "likely benign" "" "0000675775" "0" "30" "1" "24122717" "24122717" "subst" "0.00104" "01943" "GALE_000008" "g.24122717C>T" "" "" "" "GALE(NM_000403.3):c.912G>A (p.V304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717357" "0" "30" "1" "24123647" "24123647" "subst" "6.06621E-5" "01943" "GALE_000009" "g.24123647G>A" "" "" "" "GALE(NM_000403.3):c.529-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799237" "0" "30" "1" "24122750" "24122750" "subst" "0.00236495" "01943" "GALE_000010" "g.24122750C>T" "" "" "" "GALE(NM_000403.3):c.879G>A (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799238" "0" "50" "1" "24125479" "24125479" "subst" "0" "01943" "GALE_000011" "g.24125479C>G" "" "" "" "GALE(NM_000403.3):c.19G>C (p.V7L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000828488" "1" "70" "1" "24125113" "24125114" "ins" "0" "00000" "GALE_000013" "g.24125113_24125114insCAGAA" "" "{PMID:Perea-Romero 2021:34448047}" "" "GALE, c.231_232insTGTTC, p.Lys78Cysfs*34, compound heterozygous" "" "Germline" "yes" "" "0" "" "" "g.23798623_23798624insCAGAA" "" "likely pathogenic" "ACMG" "0000828489" "2" "50" "1" "24124264" "24124264" "subst" "7.30947E-5" "00000" "GALE_000012" "g.24124264G>A" "" "{PMID:Perea-Romero 2021:34448047}" "" "GALE, c.449C>T, p.Thr150Met, compound heterozygous" "" "Germline" "yes" "" "0" "" "" "g.23797774G>A" "" "VUS" "ACMG" "0000848662" "0" "70" "1" "24122998" "24122998" "subst" "0" "01943" "GALE_000014" "g.24122998C>T" "" "" "" "GALE(NM_000403.3):c.873+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000883323" "0" "10" "1" "24122986" "24122986" "subst" "0.642192" "02327" "GALE_000015" "g.24122986C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883324" "0" "30" "1" "24123212" "24123212" "subst" "0.00136973" "02326" "GALE_000016" "g.24123212T>C" "" "" "" "GALE(NM_000403.4):c.770A>G (p.K257R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883325" "0" "30" "1" "24123348" "24123348" "subst" "0.00206741" "02326" "GALE_000017" "g.24123348C>T" "" "" "" "GALE(NM_000403.4):c.709+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013298" "0" "50" "1" "24123233" "24123233" "subst" "0" "02327" "GALE_000018" "g.24123233C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013299" "0" "90" "1" "24124208" "24124208" "subst" "6.90333E-5" "02327" "GALE_000019" "g.24124208G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001031897" "0" "50" "1" "24123428" "24123428" "subst" "3.69719E-5" "01804" "GALE_000020" "g.24123428G>A" "" "" "" "GALE(NM_001008216.2):c.647C>T (p.(Ala216Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047264" "21" "70" "1" "24124674" "24124674" "subst" "8.12625E-6" "00006" "GALE_000021" "g.24124674C>T" "" "{PMID:Soriano-Sexto 2022:36361642}, {DOI:Soriano-Sexto 2022:10.3390/ijms232112850}" "" "" "0.96 decreased GALE activity" "Germline" "" "" "0" "" "" "g.23798184C>T" "" "likely pathogenic (recessive)" "" "0001047265" "11" "70" "1" "24127202" "24127202" "subst" "0" "00006" "GALE_000022" "g.24127202C>G" "" "{PMID:Soriano-Sexto 2022:36361642}, {DOI:Soriano-Sexto 2022:10.3390/ijms232112850}" "" "" "consequence on RNA described as r.-77_-76ins110 but this does not match sequence Fig.2 (more like c.-77_-76ins-77+1_-77+26)" "Germline" "" "" "0" "" "" "g.23800712C>G" "" "likely pathogenic (recessive)" "" "0001050007" "0" "50" "1" "24122489" "24122489" "subst" "0.000178964" "01804" "GALE_000023" "g.24122489G>T" "" "" "" "GALE(NM_001008216.2):c.997C>A (p.(Leu333Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001060723" "0" "70" "1" "24125122" "24125122" "subst" "0" "00006" "GALE_000024" "g.24125122G>A" "" "{PMID:Horbacz 2025:41210864}" "" "NM_001008216.2:c.220C>T" "ACMG PVS1, PM2; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.23798632G>A" "" "likely pathogenic" "ACMG" "0001093047" "0" "50" "1" "24123216" "24123216" "subst" "2.462E-5" "00006" "chr1_018483" "g.24123216T>C" "" "{PMID:Javadiyan 2018:29770612}" "" "" "" "Germline" "" "" "0" "" "" "g.23796726T>C" "" "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 GALE ## Count = 35 "{{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}}" "0000249313" "00008315" "30" "906" "0" "906" "0" "c.906T>G" "r.(?)" "p.(Gly302=)" "" "0000281381" "00008315" "50" "-4161" "0" "-4161" "0" "c.-4161G>A" "r.(?)" "p.(=)" "" "0000288172" "00008315" "30" "963" "0" "963" "0" "c.963A>G" "r.(?)" "p.(Thr321=)" "" "0000320644" "00008315" "50" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Arg299Gln)" "" "0000320646" "00008315" "50" "-2181" "0" "-2181" "0" "c.-2181A>G" "r.(?)" "p.(=)" "" "0000506614" "00008315" "90" "-4089" "0" "-4089" "0" "c.-4089G>C" "r.(?)" "p.(=)" "" "0000605578" "00008315" "30" "962" "0" "962" "0" "c.962C>T" "r.(?)" "p.(Thr321Ile)" "" "0000653975" "00008315" "30" "-4218" "0" "-4218" "0" "c.-4218T>C" "r.(?)" "p.(=)" "" "0000675775" "00008315" "30" "912" "0" "912" "0" "c.912G>A" "r.(?)" "p.(Val304=)" "" "0000717357" "00008315" "30" "529" "-10" "529" "-10" "c.529-10C>T" "r.(=)" "p.(=)" "" "0000799237" "00008315" "30" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Pro293=)" "" "0000799238" "00008315" "50" "19" "0" "19" "0" "c.19G>C" "r.(?)" "p.(Val7Leu)" "" "0000828488" "00008315" "70" "231" "0" "232" "0" "c.231_232insTGTTC" "r.(?)" "p.(Lys78Cysfs*34)" "" "0000828489" "00008315" "50" "449" "0" "449" "0" "c.449C>T" "r.(?)" "p.(Thr150Met)" "" "0000848662" "00008315" "70" "873" "1" "873" "1" "c.873+1G>A" "r.spl?" "p.?" "" "0000848662" "00026003" "70" "873" "1" "873" "1" "c.873+1G>A" "r.spl?" "p.?" "" "0000883323" "00008315" "10" "873" "13" "873" "13" "c.873+13G>A" "r.(=)" "p.(=)" "" "0000883323" "00026003" "10" "873" "13" "873" "13" "c.873+13G>A" "r.(=)" "p.(=)" "" "0000883324" "00008315" "30" "770" "0" "770" "0" "c.770A>G" "r.(?)" "p.(Lys257Arg)" "" "0000883324" "00026003" "30" "770" "0" "770" "0" "c.770A>G" "r.(?)" "p.(Lys257Arg)" "" "0000883325" "00008315" "30" "709" "18" "709" "18" "c.709+18G>A" "r.(=)" "p.(=)" "" "0000883325" "00026003" "30" "709" "18" "709" "18" "c.709+18G>A" "r.(=)" "p.(=)" "" "0001013298" "00008315" "50" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Gly250Asp)" "" "0001013298" "00026003" "50" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Gly250Asp)" "" "0001013299" "00008315" "90" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169Trp)" "" "0001013299" "00026003" "90" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169Trp)" "" "0001031897" "00008315" "50" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Ala216Val)" "" "0001031897" "00026003" "50" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Ala216Val)" "" "0001047264" "00008315" "70" "284" "0" "284" "0" "c.284G>A" "r.284G>A" "p.Gly95Asp" "" "0001047265" "00008315" "70" "-402" "0" "-402" "0" "c.-402G>C" "r.spl" "p.?" "" "0001047265" "00026003" "70" "-77" "0" "-77" "0" "c.-77G>C" "r.spl" "p.?" "1" "0001050007" "00008315" "50" "997" "0" "997" "0" "c.997C>A" "r.(?)" "p.(Leu333Ile)" "" "0001050007" "00026003" "50" "997" "0" "997" "0" "c.997C>A" "r.(?)" "p.(Leu333Ile)" "" "0001060723" "00008315" "70" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Gln74Ter)" "" "0001093047" "00008315" "50" "766" "0" "766" "0" "c.766A>G" "r.(?)" "p.(Arg256Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000396809" "0000828488" "0000396809" "0000828489" "0000467867" "0001047264" "0000467867" "0001047265" "0000472349" "0001060723" "0000489108" "0001093047"