### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RAB7A) # 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}}" "RAB7A" "RAB7A, member RAS oncogene family" "3" "q21" "unknown" "LRG_266" "UD_132048704001" "" "https://www.LOVD.nl/RAB7A" "" "1" "9788" "7879" "602298" "1" "1" "1" "1" "This database is one of the gene variant databases from the:\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB." "" "g" "https://databases.lovd.nl/shared/refseq/RAB7A_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2019-12-30 12:38:43" "00000" "2025-09-24 17:00:03" ## 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}}" "00017284" "RAB7A" "RAB7A, member RAS oncogene family" "001" "NM_004637.5" "" "NP_004628.4" "" "" "" "-232" "2000" "624" "128444979" "128533641" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" "02322" "CMT2B" "Charcot-Marie-Tooth disease, type 2B (CMT-2B)" "AD" "600882" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05122" "HSN" "neuropathy, sensory, hereditary (HSN)" "" "" "" "" "" "00006" "2016-01-24 01:36:12" "00006" "2020-04-22 19:42:45" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RAB7A" "02322" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00036631" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036632" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036633" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00210637" "" "" "" "1" "" "00233" "{PMID:Verhoeven 2003:12545426}" "" "" "" "" "" "0" "" "" "" "" "00210638" "" "" "" "1" "" "00233" "{PMID:Meggouh 2006:17060578}" "" "" "" "" "" "0" "" "" "" "" "00210639" "" "" "" "1" "" "00233" "{PMID:Verhoeven 2003:12545426}" "" "" "" "" "" "0" "" "" "" "" "00210640" "" "" "" "1" "" "00233" "{PMID:Houlden 2004:15455439}" "" "" "" "" "" "0" "" "" "" "" "00300024" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat17" "00300087" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300088" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00036632" "00198" "00210637" "05113" "00210638" "05113" "00210639" "05113" "00210640" "05113" "00300024" "05122" "00300087" "00199" "00300088" "00199" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00199, 02322, 05113, 05122 ## Count = 8 "{{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}}" "0000156609" "00198" "00036632" "01164" "Unknown" "" "suspected HSAN1" "" "" "" "" "" "" "" "" "" "HSAN?" "" "0000159202" "05113" "00210637" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-2B" "Charcot-Marie-Tooth disease" "" "0000159203" "05113" "00210638" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-2B" "Charcot-Marie-Tooth disease" "" "0000159204" "05113" "00210639" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-2B" "Charcot-Marie-Tooth disease" "" "0000159205" "05113" "00210640" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-2B" "Charcot-Marie-Tooth disease" "" "0000227345" "05122" "00300024" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hereditary sensory neuropathy" "" "0000227408" "00199" "00300087" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227409" "00199" "00300088" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000036701" "00036631" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036702" "00036632" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036703" "00036633" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000211713" "00210637" "1" "00233" "00006" "2012-06-06 16:42:40" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211714" "00210638" "1" "00233" "00006" "2012-06-06 16:42:40" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211715" "00210639" "1" "00233" "00006" "2012-06-06 16:42:40" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211716" "00210640" "1" "00233" "00006" "2012-06-06 16:42:40" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000301140" "00300024" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301203" "00300087" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301204" "00300088" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000036701" "RAB7A" "0000036702" "RAB7A" "0000036703" "RAB7A" "0000211713" "RAB7A" "0000211714" "RAB7A" "0000211715" "RAB7A" "0000211716" "RAB7A" "0000301140" "RAB7A" "0000301140" "SPTLC2" "0000301203" "RAB7A" "0000301204" "RAB7A" ## 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 = 30 "{{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}}" "0000063826" "1" "50" "3" "128514337" "128514337" "subst" "0" "01164" "RAB7A_000006" "g.128514337C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128795494C>T" "" "VUS" "" "0000063827" "1" "50" "3" "128516819" "128516819" "subst" "0.000946262" "01164" "RAB7A_000007" "g.128516819G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128797976G>A" "" "VUS" "" "0000063828" "1" "10" "3" "128526409" "128526409" "subst" "0.00286859" "01164" "RAB7A_000005" "g.128526409C>G" "" "" "" "" "IPNM" "Germline" "" "" "0" "" "" "g.128807566C>G" "" "benign" "" "0000246187" "0" "90" "3" "128526468" "128526468" "subst" "0" "02330" "RAB7A_000003" "g.128526468A>C" "" "" "" "RAB7A(NM_004637.6):c.482A>C (p.N161T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128807625A>C" "" "pathogenic" "" "0000294641" "0" "10" "3" "128532444" "128532445" "del" "0" "02330" "RAB7A_000008" "g.128532444_128532445del" "" "" "" "RAB7A(NM_004637.6):c.*179_*180delAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128813601_128813602del" "" "benign" "" "0000294642" "0" "90" "3" "128525419" "128525419" "subst" "0" "02330" "RAB7A_000001" "g.128525419C>T" "" "" "" "RAB7A(NM_004637.6):c.385C>T (p.L129F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128806576C>T" "" "pathogenic" "" "0000294643" "0" "70" "3" "128526457" "128526457" "subst" "0" "02330" "RAB7A_000002" "g.128526457G>C" "" "" "" "RAB7A(NM_004637.6):c.471G>C (p.K157N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128807614G>C" "" "likely pathogenic" "" "0000294644" "0" "90" "3" "128526470" "128526470" "subst" "0" "02330" "RAB7A_000004" "g.128526470G>A" "" "" "" "RAB7A(NM_004637.6):c.484G>A (p.V162M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128807627G>A" "" "pathogenic" "" "0000443317" "0" "90" "3" "128525419" "128525419" "subst" "0" "00233" "RAB7A_000001" "g.128525419C>T" "" "{PMID:Verhoeven 2003:12545426}" "" "" "submitted through SIB; {EXP:018722}; The mutations results in enhanced MAPK/ERK signaling. {dbSNP121909078}" "Germline" "" "" "0" "" "" "g.128806576C>T" "" "pathogenic (dominant)" "" "0000443318" "0" "90" "3" "128526457" "128526457" "subst" "0" "00233" "RAB7A_000002" "g.128526457G>C" "" "{PMID:Meggouh 2006:17060578}" "" "" "submitted through SIB; {EXP:037887}; The mutations results in enhanced MAPK/ERK signaling. {dbSNP121909081}" "Germline" "" "" "0" "" "" "g.128807614G>C" "" "pathogenic (dominant)" "" "0000443319" "0" "90" "3" "128526470" "128526470" "subst" "0" "00233" "RAB7A_000004" "g.128526470G>A" "" "{PMID:Verhoeven 2003:12545426}" "" "" "submitted through SIB; {EXP:018723}; The mutations results in enhanced MAPK/ERK signaling. {dbSNP121909079}" "Germline" "" "" "0" "" "" "g.128807627G>A" "" "pathogenic (dominant)" "" "0000443320" "0" "90" "3" "128526468" "128526468" "subst" "0" "00233" "RAB7A_000003" "g.128526468A>C" "" "{PMID:Houlden 2004:15455439}" "" "" "submitted through SIB; {EXP:037888}; The mutations results in enhanced MAPK/ERK signaling. {dbSNP121909080}" "Germline" "" "" "0" "" "" "g.128807625A>C" "" "pathogenic (dominant)" "" "0000443321" "0" "90" "3" "128525419" "128525419" "subst" "0" "00233" "RAB7A_000001" "g.128525419C>T" "" "{PMID:BasuRay 2010:21151572}" "" "" "expression cloning COS-7 cells, mis-localized to ER excl., increased protein stability/turnover" "In vitro (cloned)" "" "" "0" "" "" "g.128806576C>T" "" "NA" "" "0000443322" "0" "90" "3" "128526457" "128526457" "subst" "0" "00233" "RAB7A_000002" "g.128526457G>C" "" "{PMID:BasuRay 2010:21151572}" "" "" "expression cloning COS-7 cells, mis-localized to ER excl., increased protein stability/turnover" "In vitro (cloned)" "" "" "0" "" "" "g.128807614G>C" "" "NA" "" "0000443323" "0" "90" "3" "128526468" "128526468" "subst" "0" "00233" "RAB7A_000003" "g.128526468A>C" "" "{PMID:BasuRay 2010:21151572}" "" "" "expression cloning COS-7 cells, mis-localized to ER excl., increased protein stability/turnover" "In vitro (cloned)" "" "" "0" "" "" "g.128807625A>C" "" "NA" "" "0000443324" "0" "90" "3" "128526470" "128526470" "subst" "0" "00233" "RAB7A_000004" "g.128526470G>A" "" "{PMID:BasuRay 2010:21151572}" "" "" "expression cloning COS-7 cells, mis-localized to ER excl., increased protein stability/turnover" "In vitro (cloned)" "" "" "0" "" "" "g.128807627G>A" "" "NA" "" "0000517785" "0" "30" "3" "128514277" "128514277" "subst" "4.06055E-6" "02330" "RAB7A_000009" "g.128514277G>T" "" "" "" "RAB7A(NM_004637.6):c.53+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128795434G>T" "" "likely benign" "" "0000517787" "0" "10" "3" "128525253" "128525253" "subst" "0.0442496" "02330" "RAB7A_000010" "g.128525253C>T" "" "" "" "RAB7A(NM_004637.6):c.219C>T (p.L73=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128806410C>T" "" "benign" "" "0000517788" "0" "10" "3" "128526409" "128526409" "subst" "0.00286859" "02330" "RAB7A_000005" "g.128526409C>G" "" "" "" "RAB7A(NM_004637.5):c.423C>G (p.A141=), RAB7A(NM_004637.6):c.423C>G (p.A141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128807566C>G" "" "benign" "" "0000621167" "0" "30" "3" "128514199" "128514199" "subst" "0" "02330" "RAB7A_000011" "g.128514199T>C" "" "" "" "RAB7A(NM_004637.6):c.-8-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128795356T>C" "" "likely benign" "" "0000654792" "0" "10" "3" "128516819" "128516819" "subst" "0.000946262" "02330" "RAB7A_000007" "g.128516819G>A" "" "" "" "RAB7A(NM_004637.6):c.87G>A (p.V29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128797976G>A" "" "benign" "" "0000664035" "0" "90" "3" "128526470" "128526470" "subst" "0" "00006" "RAB7A_000004" "g.128526470G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs121909079" "0" "" "" "g.128807627G>A" "" "pathogenic (dominant)" "" "0000664098" "0" "70" "3" "128525411" "128525411" "subst" "0" "00006" "RAB7A_000012" "g.128525411A>G" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.128806568A>G" "" "likely pathogenic (dominant)" "" "0000664099" "0" "70" "3" "128526460" "128526462" "delins" "0" "00006" "RAB7A_000013" "g.128526460_128526462delinsAGT" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.128807617_128807619delinsAGT" "" "likely pathogenic (dominant)" "" "0000688922" "0" "30" "3" "128525217" "128525217" "subst" "6.1067E-5" "02330" "RAB7A_000014" "g.128525217A>C" "" "" "" "RAB7A(NM_004637.6):c.183A>C (p.I61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719174" "0" "30" "3" "128525445" "128525445" "subst" "4.07189E-6" "02330" "RAB7A_000015" "g.128525445C>T" "" "" "" "RAB7A(NM_004637.6):c.399+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850125" "0" "10" "3" "128526409" "128526409" "subst" "0.00286859" "02326" "RAB7A_000005" "g.128526409C>G" "" "" "" "RAB7A(NM_004637.5):c.423C>G (p.A141=), RAB7A(NM_004637.6):c.423C>G (p.A141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948017" "0" "10" "3" "128513786" "128513786" "subst" "0" "02330" "RAB7A_000016" "g.128513786C>T" "" "" "" "RAB7A(NM_004637.6):c.-8-417C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948018" "0" "10" "3" "128531870" "128531870" "subst" "0" "02330" "RAB7A_000017" "g.128531870A>G" "" "" "" "RAB7A(NM_004637.6):c.529-300A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001048363" "0" "70" "3" "128525411" "128525411" "subst" "0" "03779" "RAB7A_000012" "g.128525411A>G" "" "" "" "" "" "Unknown" "" "rs1933806941" "0" "" "" "" "" "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 RAB7A ## Count = 30 "{{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}}" "0000063826" "00017284" "50" "53" "74" "53" "74" "c.53+74C>T" "r.(=)" "p.(=)" "" "0000063827" "00017284" "50" "87" "0" "87" "0" "c.87G>A" "r.(=)" "p.(=)" "" "0000063828" "00017284" "10" "423" "0" "423" "0" "c.423C>G" "r.(=)" "p.(=)" "" "0000246187" "00017284" "90" "482" "0" "482" "0" "c.482A>C" "r.(?)" "p.(Asn161Thr)" "" "0000294641" "00017284" "10" "803" "0" "804" "0" "c.*179_*180del" "r.(=)" "p.(=)" "" "0000294642" "00017284" "90" "385" "0" "385" "0" "c.385C>T" "r.(?)" "p.(Leu129Phe)" "" "0000294643" "00017284" "70" "471" "0" "471" "0" "c.471G>C" "r.(?)" "p.(Lys157Asn)" "" "0000294644" "00017284" "90" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Val162Met)" "" "0000443317" "00017284" "90" "385" "0" "385" "0" "c.385C>T" "r.(?)" "p.(Leu129Phe)" "?" "0000443318" "00017284" "90" "471" "0" "471" "0" "c.471G>C" "r.(?)" "p.(Lys157Asn)" "?" "0000443319" "00017284" "90" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Val162Met)" "?" "0000443320" "00017284" "90" "482" "0" "482" "0" "c.482A>C" "r.(?)" "p.(Asn161Thr)" "?" "0000443321" "00017284" "90" "385" "0" "385" "0" "c.385C>T" "r.(?)" "p.Leu129Phe" "?" "0000443322" "00017284" "90" "471" "0" "471" "0" "c.471G>C" "r.(?)" "p.Lys157Asn" "?" "0000443323" "00017284" "90" "482" "0" "482" "0" "c.482A>C" "r.(?)" "p.Asn161Thr" "?" "0000443324" "00017284" "90" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.Val162Met" "?" "0000517785" "00017284" "30" "53" "14" "53" "14" "c.53+14G>T" "r.(=)" "p.(=)" "" "0000517787" "00017284" "10" "219" "0" "219" "0" "c.219C>T" "r.(?)" "p.(Leu73=)" "" "0000517788" "00017284" "10" "423" "0" "423" "0" "c.423C>G" "r.(?)" "p.(Ala141=)" "" "0000621167" "00017284" "30" "-8" "-4" "-8" "-4" "c.-8-4T>C" "r.spl?" "p.?" "" "0000654792" "00017284" "10" "87" "0" "87" "0" "c.87G>A" "r.(?)" "p.(Val29=)" "" "0000664035" "00017284" "90" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Val162Met)" "" "0000664098" "00017284" "70" "377" "0" "377" "0" "c.377A>G" "r.(?)" "p.(Lys126Arg)" "" "0000664099" "00017284" "70" "474" "0" "476" "0" "c.474_476delinsAGT" "r.(?)" "p.(Ala159Val)" "" "0000688922" "00017284" "30" "183" "0" "183" "0" "c.183A>C" "r.(?)" "p.(Ile61=)" "" "0000719174" "00017284" "30" "399" "12" "399" "12" "c.399+12C>T" "r.(=)" "p.(=)" "" "0000850125" "00017284" "10" "423" "0" "423" "0" "c.423C>G" "r.(?)" "p.(Ala141=)" "" "0000948017" "00017284" "10" "-8" "-417" "-8" "-417" "c.-8-417C>T" "r.(=)" "p.(=)" "" "0000948018" "00017284" "10" "529" "-300" "529" "-300" "c.529-300A>G" "r.(=)" "p.(=)" "" "0001048363" "00017284" "70" "377" "0" "377" "0" "c.377A>G" "r.(?)" "p.(Lys126Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000036701" "0000063826" "0000036702" "0000063827" "0000036703" "0000063828" "0000211713" "0000443317" "0000211714" "0000443318" "0000211715" "0000443319" "0000211716" "0000443320" "0000301140" "0000664035" "0000301203" "0000664098" "0000301204" "0000664099"