### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPTLC2) # 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}}" "SPTLC2" "serine palmitoyltransferase, long chain base subunit 2" "14" "q24.3" "unknown" "LRG_371" "UD_132084483227" "" "https://www.LOVD.nl/SPTLC2" "" "1" "11278" "9517" "605713" "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. All variants submitted here will be shared with the IPNMDB." "" "g" "https://databases.lovd.nl/shared/refseq/SPTLC2_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 20:02:30" "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}}" "00020258" "SPTLC2" "serine palmitoyltransferase, long chain base subunit 2" "001" "NM_004863.3" "" "NP_004854.1" "" "" "" "-188" "7976" "1689" "78083110" "77972340" "" "0000-00-00 00:00:00" "" "" ## 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}}" "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" "03373" "HSAN1C" "neuropathy, sensory and autonomic, hereditary, type IC (HSAN-1C)" "AD" "613640" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05111" "HMN" "neuropathy, motor, distal, hereditary (HMN)" "" "" "" "" "" "00006" "2016-01-11 01:33:03" "00006" "2016-03-20 12:15:43" "05122" "HSN" "neuropathy, sensory, hereditary (HSN)" "" "" "" "" "" "00006" "2016-01-24 01:36:12" "00006" "2020-04-22 19:42:45" "05383" "HSAN" "neuropathy, sensory and autonomic, hereditary (HSAN)" "" "" "" "" "" "00006" "2018-01-27 17:13:02" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SPTLC2" "03373" ## Individuals ## Do not remove or alter this header ## ## Count = 29 "{{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}}" "00037179" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037180" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037181" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037182" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037183" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037184" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037185" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037186" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037187" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037188" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037189" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037190" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037191" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037192" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037193" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037194" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037195" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037196" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00151943" "" "" "" "1" "" "00006" "{PMID:Rotthier 2010:20920666}" "2-generation family, 1 affected" "F" "" "Austria" "" "0" "" "" "" "20920666-FamCMT747PatI1" "00151944" "" "" "" "2" "" "00006" "{PMID:Rotthier 2010:20920666}" "2-generation family, 1 affected mother/son" "F;M" "no" "Austria" "" "0" "" "" "" "20920666-FamCMT117" "00151945" "" "" "" "1" "" "00006" "{PMID:Rotthier 2010:20920666}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Czech Republic" "" "0" "" "" "" "20920666-FamCMT635" "00151946" "" "" "" "1" "" "00006" "{PMID:Rotthier 2010:20920666}" "2-generation family, 1 affected, unaffected non-carrier relatives" "F" "" "Germany" "" "0" "" "" "" "20920666-FamCMT1044" "00219046" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat56" "00291125" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300024" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat17" "00300030" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300102" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300103" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300104" "" "" "" "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 = 13 "{{individualid}}" "{{diseaseid}}" "00037194" "00198" "00037196" "00198" "00151943" "05383" "00151944" "05383" "00151945" "05383" "00151946" "05383" "00219046" "05383" "00291125" "00198" "00300024" "05122" "00300030" "00199" "00300102" "05122" "00300103" "05111" "00300104" "00199" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00199, 03373, 05111, 05122, 05383 ## Count = 12 "{{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}}" "0000124306" "05383" "00151943" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "HSAN-1C" "Sensory and autonomic neuropathy type I" "" "0000124307" "05383" "00151944" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "HSAN-1C" "sensory and autonomic neuropathy type I" "" "0000124308" "05383" "00151945" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "HSAN-1C" "Sensory and autonomic neuropathy type I" "" "0000124309" "05383" "00151946" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "HSAN-1C" "sensory and autonomic neuropathy type I" "" "0000156825" "00198" "00037194" "01164" "Unknown" "" "suspected HSAN1, clinical neuropathy with intestinal voiding dysfunction and voiding dysfunction, pallanaesthesia, Ballenhohlfuß bilateral, weakness of dorsal flexor (of the foot) with steppage gait, amblyopia, mental retardation" "" "" "" "" "" "" "" "" "" "HSAN?" "" "0000156826" "00198" "00037196" "01164" "Unknown" "" "suspected HSN" "" "" "" "" "" "" "" "" "" "HSN?" "" "0000167603" "05383" "00219046" "00006" "Familial, autosomal dominant" "" "HSAN1C" "" "" "" "" "" "" "" "" "HSAN-1C" "hereditary sensory and autonomic neuropathy" "" "0000227345" "05122" "00300024" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hereditary sensory neuropathy" "" "0000227351" "00199" "00300030" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227423" "05122" "00300102" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hereditary sensory neuropathy" "" "0000227424" "05111" "00300103" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000227425" "00199" "00300104" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" ## Screenings ## Do not remove or alter this header ## ## Count = 29 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037249" "00037179" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037250" "00037180" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037251" "00037181" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037252" "00037182" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037253" "00037183" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037254" "00037184" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037255" "00037185" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037256" "00037186" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037257" "00037187" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037258" "00037188" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037259" "00037189" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037260" "00037190" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037261" "00037191" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037262" "00037192" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037263" "00037193" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037264" "00037194" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037265" "00037195" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037266" "00037196" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000152800" "00151943" "1" "00006" "00006" "2012-11-07 13:05:57" "" "" "SEQ" "DNA" "" "" "0000152801" "00151944" "1" "00006" "00006" "2012-11-07 13:05:57" "" "" "SEQ" "DNA" "" "" "0000152802" "00151945" "1" "00006" "00006" "2012-11-07 13:05:57" "" "" "SEQ" "DNA" "" "" "0000152803" "00151946" "1" "00006" "00006" "2018-01-28 11:54:09" "" "" "SEQ" "DNA" "" "" "0000220118" "00219046" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000292293" "00291125" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301140" "00300024" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301146" "00300030" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301218" "00300102" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301219" "00300103" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301220" "00300104" "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 = 29 "{{screeningid}}" "{{geneid}}" "0000037249" "SPTLC2" "0000037250" "SPTLC2" "0000037251" "SPTLC2" "0000037252" "SPTLC2" "0000037253" "SPTLC2" "0000037254" "SPTLC2" "0000037255" "SPTLC2" "0000037256" "SPTLC2" "0000037257" "SPTLC2" "0000037258" "SPTLC2" "0000037259" "SPTLC2" "0000037260" "SPTLC2" "0000037261" "SPTLC2" "0000037262" "SPTLC2" "0000037263" "SPTLC2" "0000037264" "SPTLC2" "0000037265" "SPTLC2" "0000037266" "SPTLC2" "0000152800" "SPTLC2" "0000152801" "SPTLC2" "0000152802" "SPTLC2" "0000152803" "SPTLC2" "0000220118" "SPTLC2" "0000301140" "RAB7A" "0000301140" "SPTLC2" "0000301146" "SPTLC2" "0000301218" "SPTLC2" "0000301219" "SPTLC2" "0000301220" "SPTLC2" ## 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 = 63 "{{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}}" "0000064374" "1" "50" "14" "78021884" "78021884" "subst" "0" "01164" "SPTLC2_000007" "g.78021884T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77555541T>C" "" "VUS" "" "0000064375" "1" "10" "14" "78028803" "78028803" "subst" "0.905063" "01164" "SPTLC2_000010" "g.78028803A>G" "" "" "" "" "" "Germline" "" "rs2364602" "0" "" "" "g.77562460A>G" "" "benign" "" "0000064376" "1" "50" "14" "78042980" "78042980" "del" "0" "01164" "SPTLC2_000014" "g.78042980del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77576637del" "" "VUS" "" "0000064377" "1" "10" "14" "77984540" "77984540" "subst" "0.0205604" "01164" "SPTLC2_000011" "g.77984540A>C" "" "" "" "" "" "Germline" "" "rs140089337" "0" "" "" "g.77518197A>C" "" "benign" "" "0000064378" "1" "50" "14" "78043194" "78043194" "subst" "1.21822E-5" "01164" "SPTLC2_000015" "g.78043194G>A" "" "" "" "" "PolyPhen-2: possibly damaging (PSIC: 0,764)" "Germline" "" "" "0" "" "" "g.77576851G>A" "" "VUS" "" "0000064379" "1" "10" "14" "78018614" "78018614" "subst" "0.990177" "01164" "SPTLC2_000004" "g.78018614C>T" "" "" "" "" "" "Germline" "" "rs2178876" "0" "" "" "g.77552271C>T" "" "benign" "" "0000064380" "1" "10" "14" "78023519" "78023519" "subst" "0.536717" "01164" "SPTLC2_000008" "g.78023519C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77557176C>G" "" "benign" "" "0000064381" "1" "10" "14" "77987958" "77987958" "subst" "0.719249" "01164" "SPTLC2_000013" "g.77987958C>A" "" "" "" "" "" "Germline" "" "rs2072672" "0" "" "" "g.77521615C>A" "" "benign" "" "0000064382" "1" "10" "14" "77984573" "77984573" "subst" "0" "01164" "SPTLC2_000012" "g.77984573C>T" "" "" "" "" "" "Germline" "" "rs926114" "0" "" "" "g.77518230C>T" "" "benign" "" "0000064383" "1" "50" "14" "78021542" "78021542" "subst" "0" "01164" "SPTLC2_000005" "g.78021542T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77555199T>C" "" "VUS" "" "0000064384" "1" "10" "14" "77978621" "77978621" "subst" "0.0496459" "01164" "SPTLC2_000018" "g.77978621A>C" "" "" "" "" "" "Germline" "" "rs73319080" "0" "" "" "g.77512278A>C" "" "benign" "" "0000064385" "1" "10" "14" "78063440" "78063440" "subst" "0" "01164" "SPTLC2_000016" "g.78063440A>C" "" "" "" "" "" "Germline" "" "rs12435993" "0" "" "" "g.77597097A>C" "" "benign" "" "0000064386" "1" "10" "14" "78028705" "78028705" "subst" "0.0329065" "01164" "SPTLC2_000009" "g.78028705C>T" "" "" "" "" "" "Germline" "" "rs45613436" "0" "" "" "g.77562362C>T" "" "benign" "" "0000064387" "1" "10" "14" "78036658" "78036658" "subst" "0" "01164" "SPTLC2_000019" "g.78036658C>G" "" "" "" "" "" "Germline" "" "rs76545605" "0" "" "" "g.77570315C>G" "" "benign" "" "0000064388" "1" "10" "14" "78036900" "78036900" "del" "0.510771" "01164" "SPTLC2_000020" "g.78036900del" "" "" "" "" "" "Germline" "" "rs11344772" "0" "" "" "g.77570557del" "" "benign" "" "0000064389" "1" "50" "14" "78021545" "78021545" "subst" "0" "01164" "SPTLC2_000006" "g.78021545G>A" "" "" "" "" "" "Germline" "" "rs117989420" "0" "" "" "g.77555202G>A" "" "VUS" "" "0000064390" "1" "10" "14" "78036935" "78036935" "subst" "0" "01164" "SPTLC2_000021" "g.78036935A>G" "" "" "" "" "" "Germline" "" "rs4903603" "0" "" "" "g.77570592A>G" "" "benign" "" "0000064391" "1" "50" "14" "77978652" "77978652" "subst" "0.00504349" "01164" "SPTLC2_000017" "g.77978652G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77512309G>A" "" "VUS" "" "0000247236" "0" "10" "14" "78028803" "78028803" "subst" "0.905063" "02330" "SPTLC2_000010" "g.78028803A>G" "" "" "" "SPTLC2(NM_004863.4):c.786T>C (p.N262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77562460A>G" "" "benign" "" "0000247268" "0" "10" "14" "77978621" "77978621" "subst" "0.0496459" "02330" "SPTLC2_000018" "g.77978621A>C" "" "" "" "SPTLC2(NM_004863.4):c.*6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77512278A>C" "" "benign" "" "0000247269" "0" "10" "14" "78045469" "78045469" "subst" "0.00013035" "02330" "SPTLC2_000030" "g.78045469A>G" "" "" "" "SPTLC2(NM_004863.4):c.328-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77579126A>G" "" "benign" "" "0000248375" "0" "10" "14" "78028803" "78028803" "subst" "0.905063" "02325" "SPTLC2_000010" "g.78028803A>G" "" "" "" "SPTLC2(NM_004863.4):c.786T>C (p.N262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77562460A>G" "" "benign" "" "0000308811" "0" "10" "14" "78021754" "78021754" "subst" "4.06194E-5" "02330" "SPTLC2_000027" "g.78021754T>A" "" "" "" "SPTLC2(NM_004863.4):c.1065A>T (p.T355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77555411T>A" "" "benign" "" "0000308812" "0" "90" "14" "78021744" "78021744" "subst" "0" "02330" "SPTLC2_000001" "g.78021744C>T" "" "" "" "SPTLC2(NM_004863.4):c.1075G>A (p.V359M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77555401C>T" "" "pathogenic" "" "0000308813" "0" "90" "14" "78021674" "78021674" "subst" "0" "02330" "SPTLC2_000002" "g.78021674C>A" "" "" "" "SPTLC2(NM_004863.4):c.1145G>T (p.G382V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77555331C>A" "" "pathogenic" "" "0000308814" "0" "90" "14" "78021668" "78021668" "subst" "0" "02330" "SPTLC2_000026" "g.78021668G>A" "" "" "" "SPTLC2(NM_004863.4):c.1151C>T (p.S384F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77555325G>A" "" "pathogenic" "" "0000308815" "0" "30" "14" "78021636" "78021636" "subst" "0.000939427" "02330" "SPTLC2_000025" "g.78021636C>T" "" "" "" "SPTLC2(NM_004863.4):c.1176+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77555293C>T" "" "likely benign" "" "0000308816" "0" "30" "14" "78018515" "78018515" "subst" "0.00133333" "02330" "SPTLC2_000024" "g.78018515C>T" "" "" "" "SPTLC2(NM_004863.4):c.1227G>A (p.T409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77552172C>T" "" "likely benign" "" "0000308817" "0" "90" "14" "77984440" "77984440" "subst" "0" "02330" "SPTLC2_000003" "g.77984440T>A" "" "" "" "SPTLC2(NM_004863.4):c.1510A>T (p.I504F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77518097T>A" "" "pathogenic" "" "0000308818" "0" "10" "14" "77978652" "77978652" "subst" "0.00504349" "02330" "SPTLC2_000017" "g.77978652G>A" "" "" "" "SPTLC2(NM_004863.3):c.1664C>T (p.T555M), SPTLC2(NM_004863.4):c.1664C>T (p.T555M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77512309G>A" "" "benign" "" "0000308819" "0" "30" "14" "78036760" "78036760" "subst" "0.00208057" "02330" "SPTLC2_000029" "g.78036760C>T" "" "" "" "SPTLC2(NM_004863.4):c.723G>A (p.T241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77570417C>T" "" "likely benign" "" "0000311559" "0" "10" "14" "78002223" "78002223" "subst" "0" "02325" "SPTLC2_000023" "g.78002223G>A" "" "" "" "SPTLC2(NM_004863.4):c.1304-14299C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77535880G>A" "" "benign" "" "0000314114" "0" "30" "14" "77978652" "77978652" "subst" "0.00504349" "02326" "SPTLC2_000017" "g.77978652G>A" "" "" "" "SPTLC2(NM_004863.3):c.1664C>T (p.T555M), SPTLC2(NM_004863.4):c.1664C>T (p.T555M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77512309G>A" "" "likely benign" "" "0000315706" "0" "30" "14" "78021769" "78021769" "subst" "0.000138101" "01943" "SPTLC2_000028" "g.78021769G>A" "" "" "" "SPTLC2(NM_004863.3):c.1050C>T (p.G350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77555426G>A" "" "likely benign" "" "0000347803" "0" "30" "14" "78023487" "78023487" "subst" "0" "02327" "SPTLC2_000022" "g.78023487T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77557144T>C" "" "likely benign" "" "0000351635" "0" "90" "14" "78021744" "78021744" "subst" "0" "00006" "SPTLC2_000001" "g.78021744C>T" "" "{PMID:Rotthier 2010:20920666}" "" "" "" "Germline" "" "" "0" "" "" "g.77555401C>T" "" "pathogenic" "" "0000351636" "0" "90" "14" "78021674" "78021674" "subst" "0" "00006" "SPTLC2_000002" "g.78021674C>A" "" "{PMID:Rotthier 2010:20920666}" "" "" "" "Germline" "" "" "0" "" "" "g.77555331C>A" "" "pathogenic" "" "0000351637" "0" "90" "14" "77984440" "77984440" "subst" "0" "00006" "SPTLC2_000003" "g.77984440T>A" "" "{PMID:Rotthier 2010:20920666}" "" "" "" "De novo" "" "" "0" "" "" "g.77518097T>A" "" "pathogenic" "" "0000351638" "0" "90" "14" "78021674" "78021674" "subst" "0" "00006" "SPTLC2_000002" "g.78021674C>A" "" "{PMID:Rotthier 2010:20920666}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.77555331C>A" "" "pathogenic" "" "0000455011" "1" "70" "14" "78021671" "78021671" "subst" "0" "00006" "SPTLC2_000031" "g.78021671G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG ps3, pm1, pm2" "Germline" "" "" "0" "" "" "g.77555328G>A" "" "likely pathogenic" "ACMG" "0000553170" "0" "10" "14" "77987958" "77987958" "subst" "0.719249" "02325" "SPTLC2_000013" "g.77987958C>A" "" "" "" "SPTLC2(NM_004863.4):c.1304-34G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77521615C>A" "" "benign" "" "0000553171" "0" "50" "14" "78021842" "78021842" "subst" "2.84338E-5" "02330" "SPTLC2_000032" "g.78021842C>T" "" "" "" "SPTLC2(NM_004863.4):c.977G>A (p.R326H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77555499C>T" "" "VUS" "" "0000553172" "0" "50" "14" "78028768" "78028768" "subst" "0" "01804" "SPTLC2_000033" "g.78028768C>G" "" "" "" "SPTLC2(NM_004863.3):c.821G>C (p.(Gly274Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77562425C>G" "" "VUS" "" "0000553173" "0" "10" "14" "78036760" "78036760" "subst" "0.00354754" "02330" "SPTLC2_000034" "g.78036760C>A" "" "" "" "SPTLC2(NM_004863.4):c.723G>T (p.T241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77570417C>A" "" "benign" "" "0000553174" "0" "10" "14" "78063694" "78063694" "subst" "0.00247756" "02330" "SPTLC2_000035" "g.78063694T>G" "" "" "" "SPTLC2(NM_004863.4):c.162A>C (p.L54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77597351T>G" "" "benign" "" "0000553176" "0" "30" "14" "78082842" "78082842" "subst" "0" "02330" "SPTLC2_000037" "g.78082842G>A" "" "" "" "SPTLC2(NM_004863.4):c.81C>T (p.N27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77616499G>A" "" "likely benign" "" "0000623175" "0" "30" "14" "78063556" "78063556" "subst" "8.1242E-6" "01943" "SPTLC2_000038" "g.78063556G>A" "" "" "" "SPTLC2(NM_004863.3):c.300C>T (p.H100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77597213G>A" "" "likely benign" "" "0000648982" "1" "30" "14" "77978652" "77978652" "subst" "0.00504349" "03575" "SPTLC2_000017" "g.77978652G>A" "6/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs138652708}" "Germline" "" "rs138652708" "0" "" "" "g.77512309G>A" "" "likely benign" "" "0000657500" "0" "50" "14" "78028828" "78028828" "subst" "0.000308782" "01943" "SPTLC2_000039" "g.78028828C>G" "" "" "" "SPTLC2(NM_004863.3):c.761G>C (p.C254S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77562485C>G" "" "VUS" "" "0000664041" "0" "90" "14" "78043197" "78043197" "subst" "0" "00006" "SPTLC2_000043" "g.78043197C>G" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.77576854C>G" "" "pathogenic (dominant)" "" "0000664113" "0" "70" "14" "78043212" "78043212" "subst" "0" "00006" "SPTLC2_000044" "g.78043212T>G" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.77576869T>G" "" "likely pathogenic (dominant)" "" "0000664114" "0" "70" "14" "78023447" "78023447" "subst" "4.06524E-6" "00006" "SPTLC2_000042" "g.78023447T>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.77557104T>C" "" "likely pathogenic (dominant)" "" "0000664115" "0" "70" "14" "77984437" "77984437" "subst" "0" "00006" "SPTLC2_000040" "g.77984437C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.77518094C>T" "" "likely pathogenic (dominant)" "" "0000664181" "0" "70" "14" "78021677" "78021677" "subst" "0" "00006" "SPTLC2_000041" "g.78021677A>G" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.77555334A>G" "" "likely pathogenic (dominant)" "" "0000680066" "0" "50" "14" "78082815" "78082820" "dup" "0" "01804" "SPTLC2_000045" "g.78082815_78082820dup" "" "" "" "SPTLC2(NM_004863.3):c.122_123insAGCCGC (p.(Ala40_Ala41dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853900" "0" "50" "14" "78021684" "78021684" "subst" "0" "01943" "SPTLC2_000046" "g.78021684T>C" "" "" "" "SPTLC2(NM_004863.3):c.1135A>G (p.K379E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853901" "0" "30" "14" "78043235" "78043235" "subst" "0.0011737" "02326" "SPTLC2_000047" "g.78043235C>G" "" "" "" "SPTLC2(NM_004863.3):c.506G>C (p.G169A), SPTLC2(NM_004863.4):c.506G>C (p.G169A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891907" "0" "10" "14" "77987800" "77987800" "subst" "0.00289637" "02330" "SPTLC2_000048" "g.77987800A>C" "" "" "" "SPTLC2(NM_004863.4):c.1428T>G (p.P476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000891908" "0" "10" "14" "78043235" "78043235" "subst" "0.0011737" "02330" "SPTLC2_000047" "g.78043235C>G" "" "" "" "SPTLC2(NM_004863.3):c.506G>C (p.G169A), SPTLC2(NM_004863.4):c.506G>C (p.G169A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930342" "0" "50" "14" "78036761" "78036761" "subst" "8.1277E-6" "02330" "SPTLC2_000049" "g.78036761G>A" "" "" "" "SPTLC2(NM_004863.4):c.722C>T (p.T241M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981031" "0" "50" "14" "77984509" "77984509" "subst" "8.12513E-6" "02325" "SPTLC2_000050" "g.77984509C>T" "" "" "" "SPTLC2(NM_004863.4):c.1441G>A (p.A481T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001171" "0" "30" "14" "78082885" "78082885" "subst" "0" "01804" "SPTLC2_000051" "g.78082885G>A" "" "" "" "SPTLC2(NM_004863.3):c.38C>T (p.(Thr13Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015179" "0" "50" "14" "78023450" "78023450" "subst" "4.06511E-6" "02327" "SPTLC2_000052" "g.78023450A>G" "" "" "" "" "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 SPTLC2 ## Count = 63 "{{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}}" "0000064374" "00020258" "50" "957" "-22" "957" "-22" "c.957-22A>G" "r.(=)" "p.(=)" "" "0000064375" "00020258" "10" "786" "0" "786" "0" "c.786T>C" "r.(=)" "p.(=)" "" "0000064376" "00020258" "50" "631" "130" "631" "130" "c.631+130del" "r.(=)" "p.(=)" "" "0000064377" "00020258" "10" "1440" "-30" "1440" "-30" "c.1440-30T>G" "r.(=)" "p.(=)" "" "0000064378" "00020258" "50" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Arg183Trp)" "" "0000064379" "00020258" "10" "1177" "-49" "1177" "-49" "c.1177-49G>A" "r.(=)" "p.(=)" "" "0000064380" "00020258" "10" "851" "-30" "851" "-30" "c.851-30G>C" "r.(=)" "p.(=)" "" "0000064381" "00020258" "10" "1304" "-34" "1304" "-34" "c.1304-34G>T" "r.(=)" "p.(=)" "" "0000064382" "00020258" "10" "1440" "-63" "1440" "-63" "c.1440-63G>A" "r.(=)" "p.(=)" "" "0000064383" "00020258" "50" "1176" "101" "1176" "101" "c.1176+101A>G" "r.(=)" "p.(=)" "" "0000064384" "00020258" "10" "1695" "0" "1695" "0" "c.*6T>G" "r.(=)" "p.(=)" "" "0000064385" "00020258" "10" "327" "89" "327" "89" "c.327+89T>G" "r.(=)" "p.(=)" "" "0000064386" "00020258" "10" "850" "34" "850" "34" "c.850+34G>A" "r.(=)" "p.(=)" "" "0000064387" "00020258" "10" "756" "69" "756" "69" "c.756+69G>C" "r.(=)" "p.(=)" "" "0000064388" "00020258" "10" "632" "-49" "632" "-49" "c.632-49del" "r.(=)" "p.(=)" "" "0000064389" "00020258" "50" "1176" "98" "1176" "98" "c.1176+98C>T" "r.(=)" "p.(=)" "" "0000064390" "00020258" "10" "632" "-84" "632" "-84" "c.632-84T>C" "r.(=)" "p.(=)" "" "0000064391" "00020258" "50" "1664" "0" "1664" "0" "c.1664C>T" "r.(?)" "p.(Thr555Met)" "" "0000247236" "00020258" "10" "786" "0" "786" "0" "c.786T>C" "r.(?)" "p.(Asn262=)" "" "0000247268" "00020258" "10" "1695" "0" "1695" "0" "c.*6T>G" "r.(=)" "p.(=)" "" "0000247269" "00020258" "10" "328" "-17" "328" "-17" "c.328-17T>C" "r.(=)" "p.(=)" "" "0000248375" "00020258" "10" "786" "0" "786" "0" "c.786T>C" "r.(?)" "p.(Asn262=)" "" "0000308811" "00020258" "10" "1065" "0" "1065" "0" "c.1065A>T" "r.(?)" "p.(Thr355=)" "" "0000308812" "00020258" "90" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Val359Met)" "" "0000308813" "00020258" "90" "1145" "0" "1145" "0" "c.1145G>T" "r.(?)" "p.(Gly382Val)" "" "0000308814" "00020258" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Ser384Phe)" "" "0000308815" "00020258" "30" "1176" "7" "1176" "7" "c.1176+7G>A" "r.(=)" "p.(=)" "" "0000308816" "00020258" "30" "1227" "0" "1227" "0" "c.1227G>A" "r.(?)" "p.(Thr409=)" "" "0000308817" "00020258" "90" "1510" "0" "1510" "0" "c.1510A>T" "r.(?)" "p.(Ile504Phe)" "" "0000308818" "00020258" "10" "1664" "0" "1664" "0" "c.1664C>T" "r.(?)" "p.(Thr555Met)" "" "0000308819" "00020258" "30" "723" "0" "723" "0" "c.723G>A" "r.(?)" "p.(Thr241=)" "" "0000311559" "00020258" "10" "1304" "-14299" "1304" "-14299" "c.1304-14299C>T" "r.(=)" "p.(=)" "" "0000314114" "00020258" "30" "1664" "0" "1664" "0" "c.1664C>T" "r.(?)" "p.(Thr555Met)" "" "0000315706" "00020258" "30" "1050" "0" "1050" "0" "c.1050C>T" "r.(?)" "p.(Gly350=)" "" "0000347803" "00020258" "30" "853" "0" "853" "0" "c.853A>G" "r.(?)" "p.(Met285Val)" "" "0000351635" "00020258" "90" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Val359Met)" "11" "0000351636" "00020258" "90" "1145" "0" "1145" "0" "c.1145G>T" "r.(?)" "p.(Gly382Val)" "13" "0000351637" "00020258" "90" "1510" "0" "1510" "0" "c.1510A>T" "r.(?)" "p.(Ile504Phe)" "15" "0000351638" "00020258" "90" "1145" "0" "1145" "0" "c.1145G>T" "r.(?)" "p.(Gly382Val)" "13" "0000455011" "00020258" "70" "1148" "0" "1148" "0" "c.1148C>T" "r.(?)" "p.(Ala383Val)" "" "0000553170" "00020258" "10" "1304" "-34" "1304" "-34" "c.1304-34G>T" "r.(=)" "p.(=)" "" "0000553171" "00020258" "50" "977" "0" "977" "0" "c.977G>A" "r.(?)" "p.(Arg326His)" "" "0000553172" "00020258" "50" "821" "0" "821" "0" "c.821G>C" "r.(?)" "p.(Gly274Ala)" "" "0000553173" "00020258" "10" "723" "0" "723" "0" "c.723G>T" "r.(?)" "p.(Thr241=)" "" "0000553174" "00020258" "10" "162" "0" "162" "0" "c.162A>C" "r.(?)" "p.(Leu54=)" "" "0000553176" "00020258" "30" "81" "0" "81" "0" "c.81C>T" "r.(?)" "p.(Asn27=)" "" "0000623175" "00020258" "30" "300" "0" "300" "0" "c.300C>T" "r.(?)" "p.(His100=)" "" "0000648982" "00020258" "30" "1664" "0" "1664" "0" "c.1664C>T" "r.(?)" "p.(Thr555Met)" "" "0000657500" "00020258" "50" "761" "0" "761" "0" "c.761G>C" "r.(?)" "p.(Cys254Ser)" "" "0000664041" "00020258" "90" "544" "0" "544" "0" "c.544G>C" "r.(?)" "p.(Ala182Pro)" "" "0000664113" "00020258" "70" "529" "0" "529" "0" "c.529A>C" "r.(?)" "p.(Asn177His)" "" "0000664114" "00020258" "70" "893" "0" "893" "0" "c.893A>G" "r.(?)" "p.(Tyr298Cys)" "" "0000664115" "00020258" "70" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Glu505Lys)" "" "0000664181" "00020258" "70" "1142" "0" "1142" "0" "c.1142T>C" "r.(?)" "p.(Phe381Ser)" "" "0000680066" "00020258" "50" "117" "0" "122" "0" "c.117_122dup" "r.(?)" "p.(Ala41_Ala42dup)" "" "0000853900" "00020258" "50" "1135" "0" "1135" "0" "c.1135A>G" "r.(?)" "p.(Lys379Glu)" "" "0000853901" "00020258" "30" "506" "0" "506" "0" "c.506G>C" "r.(?)" "p.(Gly169Ala)" "" "0000891907" "00020258" "10" "1428" "0" "1428" "0" "c.1428T>G" "r.(?)" "p.(Pro476=)" "" "0000891908" "00020258" "10" "506" "0" "506" "0" "c.506G>C" "r.(?)" "p.(Gly169Ala)" "" "0000930342" "00020258" "50" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Thr241Met)" "" "0000981031" "00020258" "50" "1441" "0" "1441" "0" "c.1441G>A" "r.(?)" "p.(Ala481Thr)" "" "0001001171" "00020258" "30" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Thr13Met)" "" "0001015179" "00020258" "50" "890" "0" "890" "0" "c.890T>C" "r.(?)" "p.(Val297Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000037249" "0000064374" "0000037250" "0000064375" "0000037251" "0000064376" "0000037252" "0000064377" "0000037253" "0000064378" "0000037254" "0000064379" "0000037255" "0000064380" "0000037256" "0000064381" "0000037257" "0000064382" "0000037258" "0000064383" "0000037259" "0000064384" "0000037260" "0000064385" "0000037261" "0000064386" "0000037262" "0000064387" "0000037263" "0000064388" "0000037264" "0000064389" "0000037265" "0000064390" "0000037266" "0000064391" "0000152800" "0000351635" "0000152801" "0000351636" "0000152802" "0000351637" "0000152803" "0000351638" "0000220118" "0000455011" "0000292293" "0000648982" "0000301140" "0000664181" "0000301146" "0000664041" "0000301218" "0000664113" "0000301219" "0000664114" "0000301220" "0000664115"