### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC5A6) # 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}}" "SLC5A6" "solute carrier family 5 (sodium-dependent vitamin transporter), member 6" "2" "p23" "unknown" "NC_000002.11" "UD_132438751308" "" "https://www.LOVD.nl/SLC5A6" "" "1" "11041" "8884" "604024" "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/SLC5A6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-06 15:18:05" "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}}" "00019026" "SLC5A6" "transcript variant 1" "001" "NM_021095.2" "" "NP_066918.2" "" "" "" "-495" "2757" "1908" "27435175" "27422455" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05971" "NERIB" "neurodegeneration, infantile-onset, biotin-responsive (NERIB)" "AR" "618973" "" "" "" "00006" "2021-10-06 15:19:33" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC5A6" "05971" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00372581" "" "" "" "3" "" "04066" "{PMID:Holling 2022:35013551}" "" "F" "no" "India" "" "" "" "" "" "1-1" "00372582" "" "" "00372581" "1" "" "04066" "{PMID:Holling 2022:35013551}" "" "F" "no" "India" "" "0" "" "" "" "1-2" "00372583" "" "" "00372581" "1" "" "04066" "{PMID:Holling 2022:35013551}" "" "M" "no" "India" "" "0" "" "" "" "1-3" "00372584" "" "" "" "1" "" "04066" "{PMID:Holling 2022:35013551}" "" "F" "no" "United States" "" "" "" "" "" "2-1" "00384980" "" "" "" "1" "" "04066" "{PMID:Holling 2022:35013551}" "" "F" "no" "India" "" "" "" "" "" "" "00384982" "" "" "" "1" "" "00006" "{PMID:Subramanian 2017:27904971}" "2-generation family, 1 affected, unaffected parents" "M" "" "United States" "" "0" "" "" "" "patient" "00384983" "" "" "" "2" "" "00006" "{PMID:Byrne 2019:31754459}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "" "Australia" "" "0" "" "" "" "FamPatII1/2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00372581" "05384" "00372582" "05384" "00372583" "05384" "00372584" "05384" "00384980" "05384" "00384982" "00198" "00384983" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05384, 05611, 05971 ## Count = 5 "{{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}}" "0000267894" "05384" "00372581" "04066" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Neuropathy" "Neuropathy" "" "0000267897" "05384" "00372584" "04066" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Neuropathy" "Neuropathy" "" "0000278763" "05384" "00384980" "04066" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Neuropathy" "Neuropathy" "" "0000278764" "00198" "00384982" "00006" "Familial, autosomal recessive" "" "see paper; ..., 15m-failure to thrive, microcephaly, MRI brain changes, cerebral palsy, developmental delay, variable immunodeficiency,severe gastro-esophageal reflux requiring a gastrostomy tube/fundoplication, osteoporosis, pathologic bone fractures; responded clinically to supplemental administration of excess biotin, pantothenic acid, and lipoate with improvement in clinical findings." "" "" "" "" "" "" "" "" "NERIB" "" "" "0000278765" "05611" "00384983" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "NERIB" "profound neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000373813" "00372581" "1" "04066" "04066" "2021-05-10 10:21:23" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000373814" "00372582" "1" "04066" "04066" "2021-05-10 10:36:33" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000373815" "00372583" "1" "04066" "04066" "2021-05-10 10:47:58" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000373816" "00372584" "1" "04066" "04066" "2021-05-10 11:03:06" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000386208" "00384980" "1" "04066" "04066" "2021-10-06 13:20:24" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000386210" "00384982" "1" "00006" "00006" "2021-10-06 15:29:25" "" "" "SEQ;SEQ-NG" "DNA" "" "whole genome scanning" "0000386211" "00384983" "1" "00006" "00006" "2021-10-06 15:38:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "0000308477" "0" "50" "2" "27423346" "27423347" "del" "4.0782E-5" "01943" "SLC5A6_000001" "g.27423346_27423347del" "" "" "" "SLC5A6(NM_021095.3):c.1865_1866delAG (p.Q622Rfs*51), SLC5A6(NM_021095.4):c.1865_1866del (p.(Gln622Argfs*51)), SLC5A6(NM_021095.4):c.1865_1866delAG ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27200478_27200479del" "" "VUS" "" "0000515527" "0" "30" "2" "27444109" "27444109" "subst" "0.000238763" "02325" "ATRAID_000002" "g.27444109C>T" "" "" "" "CAD(NM_004341.5):c.246C>T (p.H82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27221241C>T" "" "likely benign" "" "0000621018" "0" "30" "2" "27440742" "27440742" "subst" "0.00196437" "02325" "ATRAID_000003" "g.27440742C>T" "" "" "" "CAD(NM_004341.5):c.83-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27217874C>T" "" "likely benign" "" "0000676608" "0" "50" "2" "27429783" "27429783" "subst" "0" "01943" "SLC5A6_000003" "g.27429783C>T" "" "" "" "SLC5A6(NM_021095.3):c.421G>A (p.V141M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718721" "0" "70" "2" "27423346" "27423347" "del" "4.0782E-5" "02329" "SLC5A6_000001" "g.27423346_27423347del" "" "" "" "SLC5A6(NM_021095.3):c.1865_1866delAG (p.Q622Rfs*51), SLC5A6(NM_021095.4):c.1865_1866del (p.(Gln622Argfs*51)), SLC5A6(NM_021095.4):c.1865_1866delAG ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000718722" "0" "50" "2" "27424850" "27424850" "subst" "4.06167E-6" "01943" "SLC5A6_000004" "g.27424850A>G" "" "" "" "SLC5A6(NM_021095.3):c.1362+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718723" "0" "90" "2" "27427328" "27427328" "subst" "0" "02329" "SLC5A6_000002" "g.27427328C>T" "" "" "" "SLC5A6(NM_021095.4):c.1005+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718724" "0" "70" "2" "27440760" "27440760" "subst" "4.18732E-6" "02329" "ATRAID_000001" "g.27440760T>G" "" "" "" "CAD(NM_004341.5):c.98T>G (p.M33R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000784069" "3" "70" "2" "27424933" "27424933" "subst" "0" "04066" "SLC5A6_000005" "g.27424933T>C" "" "{PMID:Holling 2022:35013551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.27202065T>C" "" "likely pathogenic (recessive)" "other" "0000784070" "3" "70" "2" "27424933" "27424933" "subst" "0" "04066" "SLC5A6_000005" "g.27424933T>C" "" "{PMID:Holling 2022:35013551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.27202065T>C" "" "likely pathogenic (recessive)" "other" "0000784071" "3" "70" "2" "27424933" "27424933" "subst" "0" "04066" "SLC5A6_000005" "g.27424933T>C" "" "{PMID:Holling 2022:35013551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.27202065T>C" "" "likely pathogenic (recessive)" "other" "0000784072" "21" "90" "2" "27430239" "27430239" "subst" "0" "04066" "SLC5A6_000007" "g.27430239G>A" "" "{PMID:Holling 2022:35013551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.27207371G>A" "" "pathogenic (recessive)" "other" "0000784073" "11" "70" "2" "27429377" "27429377" "subst" "0" "04066" "SLC5A6_000006" "g.27429377T>C" "" "{PMID:Holling 2022:35013551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.27206509T>C" "" "likely pathogenic (recessive)" "other" "0000800559" "0" "30" "2" "27423972" "27423972" "subst" "0.00223789" "01943" "SLC5A6_000008" "g.27423972C>T" "" "" "" "SLC5A6(NM_021095.3):c.1658G>A (p.R553Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800560" "0" "30" "2" "27444109" "27444109" "subst" "0.000238763" "02326" "ATRAID_000002" "g.27444109C>T" "" "" "" "CAD(NM_004341.5):c.246C>T (p.H82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000813612" "3" "70" "2" "27424933" "27424933" "subst" "0" "04066" "SLC5A6_000005" "g.27424933T>C" "" "{PMID:Holling 2022:35013551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.27202065T>C" "" "likely pathogenic (recessive)" "other" "0000813614" "1" "90" "2" "27430239" "27430239" "subst" "0" "00006" "SLC5A6_000007" "g.27430239G>A" "" "{PMID:Subramanian 2017:27904971}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000813615" "2" "90" "2" "27430151" "27430151" "subst" "4.06984E-6" "00006" "SLC5A6_000009" "g.27430151C>A" "" "{PMID:Subramanian 2017:27904971}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.27207283C>A" "" "pathogenic (recessive)" "" "0000813616" "11" "70" "2" "27426109" "27426109" "subst" "4.06114E-6" "00006" "SLC5A6_000010" "g.27426109C>G" "" "{PMID:Byrne 2019:31754459}" "" "" "" "Germline" "yes" "" "0" "" "" "g.27203241C>G" "" "likely pathogenic (recessive)" "" "0000813617" "21" "90" "2" "27429783" "27429784" "del" "0" "00006" "SLC5A6_000011" "g.27429783_27429784del" "" "{PMID:Byrne 2019:31754459}" "" "422_423delTG" "" "Germline" "yes" "" "0" "" "" "g.27206915_27206916del" "" "pathogenic (recessive)" "" "0000849842" "0" "30" "2" "27424304" "27424304" "subst" "0.000768012" "01943" "SLC5A6_000012" "g.27424304C>T" "" "" "" "SLC5A6(NM_021095.3):c.1562G>A (p.R521Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849843" "0" "30" "2" "27430267" "27430267" "subst" "0.000138101" "01943" "ATRAID_000004" "g.27430267G>A" "" "" "" "SLC5A6(NM_021095.3):c.252C>T (p.A84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885110" "0" "50" "2" "27427681" "27427681" "subst" "2.8449E-5" "02329" "SLC5A6_000013" "g.27427681G>A" "" "" "" "SLC5A6(NM_021095.4):c.853C>T (p.(Arg285Cys), p.R285C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975193" "0" "70" "2" "27423346" "27423347" "del" "4.0782E-5" "01804" "SLC5A6_000001" "g.27423346_27423347del" "" "" "" "SLC5A6(NM_021095.3):c.1865_1866delAG (p.Q622Rfs*51), SLC5A6(NM_021095.4):c.1865_1866del (p.(Gln622Argfs*51)), SLC5A6(NM_021095.4):c.1865_1866delAG ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975194" "0" "50" "2" "27427681" "27427681" "subst" "2.8449E-5" "01804" "SLC5A6_000013" "g.27427681G>A" "" "" "" "SLC5A6(NM_021095.4):c.853C>T (p.(Arg285Cys), p.R285C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975195" "0" "50" "2" "27430385" "27430385" "subst" "0" "01804" "ATRAID_000005" "g.27430385T>C" "" "" "" "SLC5A6(NM_021095.4):c.134A>G (p.(Tyr45Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975196" "0" "30" "2" "27434880" "27434880" "subst" "0" "01804" "ATRAID_000006" "g.27434880A>C" "" "" "" "SLC5A6(NM_021095.4):c.-208+8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033240" "0" "30" "2" "27424211" "27424211" "subst" "1.22192E-5" "01804" "SLC5A6_000014" "g.27424211C>A" "" "" "" "SLC5A6(NM_021095.4):c.1648+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033241" "0" "50" "2" "27429793" "27429793" "subst" "4.06105E-6" "01804" "SLC5A6_000015" "g.27429793G>T" "" "" "" "SLC5A6(NM_021095.4):c.411C>A (p.(Phe137Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033242" "0" "90" "2" "27430239" "27430239" "subst" "0" "01804" "SLC5A6_000007" "g.27430239G>A" "" "" "" "SLC5A6(NM_021095.4):c.280C>T (p.(Arg94*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033243" "0" "50" "2" "27430474" "27430474" "subst" "0.000410706" "01804" "ATRAID_000007" "g.27430474C>T" "" "" "" "SLC5A6(NM_021095.4):c.45G>A (p.(Ser15=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050552" "0" "50" "2" "27427649" "27427649" "subst" "0" "01804" "SLC5A6_000016" "g.27427649C>T" "" "" "" "SLC5A6(NM_021095.4):c.875+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050553" "0" "50" "2" "27430152" "27430152" "subst" "3.66223E-5" "01804" "ATRAID_000008" "g.27430152G>A" "" "" "" "SLC5A6(NM_021095.4):c.367C>T (p.(Arg123Cys))" "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 SLC5A6 ## 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}}" "0000308477" "00019026" "50" "1865" "0" "1866" "0" "c.1865_1866del" "r.(?)" "p.(Gln622ArgfsTer51)" "" "0000515527" "00019026" "30" "-9429" "0" "-9429" "0" "c.-9429G>A" "r.(?)" "p.(=)" "" "0000621018" "00019026" "30" "-6062" "0" "-6062" "0" "c.-6062G>A" "r.(?)" "p.(=)" "" "0000676608" "00019026" "50" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Val141Met)" "" "0000718721" "00019026" "70" "1865" "0" "1866" "0" "c.1865_1866del" "r.(?)" "p.(Gln622ArgfsTer51)" "" "0000718722" "00019026" "50" "1362" "6" "1362" "6" "c.1362+6T>C" "r.(=)" "p.(=)" "" "0000718723" "00019026" "90" "1005" "1" "1005" "1" "c.1005+1G>A" "r.spl?" "p.?" "" "0000718724" "00019026" "70" "-6080" "0" "-6080" "0" "c.-6080A>C" "r.(?)" "p.(=)" "" "0000784069" "00019026" "70" "1285" "0" "1285" "0" "c.1285A>G" "r.(?)" "p.(Ser429Gly)" "" "0000784070" "00019026" "70" "1285" "0" "1285" "0" "c.1285A>G" "r.(?)" "p.(Ser429Gly)" "" "0000784071" "00019026" "70" "1285" "0" "1285" "0" "c.1285A>G" "r.(?)" "p.(Ser429Gly)" "" "0000784072" "00019026" "90" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94*)" "" "0000784073" "00019026" "70" "485" "0" "485" "0" "c.485A>G" "r.(?)" "p.(Tyr162Cys)" "" "0000800559" "00019026" "30" "1658" "0" "1658" "0" "c.1658G>A" "r.(?)" "p.(Arg553Gln)" "" "0000800560" "00019026" "30" "-9429" "0" "-9429" "0" "c.-9429G>A" "r.(?)" "p.(=)" "" "0000813612" "00019026" "70" "1285" "0" "1285" "0" "c.1285A>G" "r.(1285a>g)" "p.(Ser429Gly)" "" "0000813614" "00019026" "90" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94*)" "" "0000813615" "00019026" "90" "368" "0" "368" "0" "c.368G>T" "r.(?)" "p.(Arg123Leu)" "" "0000813616" "00019026" "70" "1199" "0" "1199" "0" "c.1199G>C" "r.(?)" "p.(Arg400Thr)" "" "0000813617" "00019026" "90" "422" "0" "423" "0" "c.422_423del" "r.(?)" "p.(Val141Alafs*34)" "" "0000849842" "00019026" "30" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521Gln)" "" "0000849843" "00019026" "30" "252" "0" "252" "0" "c.252C>T" "r.(?)" "p.(Ala84=)" "" "0000885110" "00019026" "50" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Arg285Cys)" "" "0000975193" "00019026" "70" "1865" "0" "1866" "0" "c.1865_1866del" "r.(?)" "p.(Gln622ArgfsTer51)" "" "0000975194" "00019026" "50" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Arg285Cys)" "" "0000975195" "00019026" "50" "134" "0" "134" "0" "c.134A>G" "r.(?)" "p.(Tyr45Cys)" "" "0000975196" "00019026" "30" "-208" "8" "-208" "8" "c.-208+8T>G" "r.(=)" "p.(=)" "" "0001033240" "00019026" "30" "1648" "7" "1648" "7" "c.1648+7G>T" "r.(=)" "p.(=)" "" "0001033241" "00019026" "50" "411" "0" "411" "0" "c.411C>A" "r.(?)" "p.(Phe137Leu)" "" "0001033242" "00019026" "90" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94*)" "" "0001033243" "00019026" "50" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(=)" "" "0001050552" "00019026" "50" "875" "10" "875" "10" "c.875+10G>A" "r.(=)" "p.(=)" "" "0001050553" "00019026" "50" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000373813" "0000784069" "0000373814" "0000784070" "0000373815" "0000784071" "0000373816" "0000784072" "0000373816" "0000784073" "0000386208" "0000813612" "0000386210" "0000813614" "0000386210" "0000813615" "0000386211" "0000813616" "0000386211" "0000813617"