### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCN1A) # 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}}" "SCN1A" "sodium voltage-gated channel alpha subunit 1" "2" "q24.3" "unknown" "LRG_8" "UD_144434731045" "" "" "" "1" "10585" "6323" "182389" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-12-06 15:41:07" "" "" "00006" "2021-09-13 15:18:47" ## 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}}" "00000055" "SCN1A" "transcript variant 1" "016" "NM_001165963.2" "" "NP_001159435.1" "" "" "" "-497" "8115" "6030" "166128039" "165989160" "00001" "2020-12-06 15:45:35" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00035" "GEFS+" "generalized epilepsy with febrile seizures plus" "" "" "" "" "" "00001" "2020-12-06 15:40:51" "" "" "00061" "-" "Epilepsy" "" "" "" "" "" "00001" "2021-01-25 09:42:02" "00001" "2021-02-25 09:30:15" "00117" "GGE" "Genetic Generalized Epilepsy" "AD" "" "" "" "" "00001" "2021-04-28 15:23:37" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SCN1A" "00035" "SCN1A" "00117" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000226" "" "" "" "1" "" "00002" "{PMID:Emmilia Husni Tan et al. (2012):22944210}" "" "" "Malaysia" "" "" "" "00000384" "" "" "" "1" "" "00002" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "Malaysia" "Chinese" "" "" "00000385" "" "" "" "1" "" "00002" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "Malaysia" "Indian" "" "" "00000386" "" "" "" "1" "" "00002" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "Malaysia" "Malay" "" "" "00000387" "" "" "" "1" "" "00002" "Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)" "" "" "Malaysia" "" "" "" "00000388" "" "" "" "1" "" "00002" "Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)" "" "" "Malaysia" "" "" "" "00000389" "" "" "" "1" "" "00002" "Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf)" "" "" "Malaysia" "" "" "" "00000430" "" "" "" "1" "" "00004" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "Malaysia" "Chinese" "" "" "00000432" "" "" "" "1" "" "00004" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "Malaysia" "Malay" "" "" "00000433" "" "" "" "1" "" "00004" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "Malaysia" "Indian" "" "" "00000456" "" "" "" "1" "" "00004" "{PMID:Larry Baum et al.(2014):24337656}" "" "" "Kuala Lumpur" "" "" "" "00000584" "" "" "" "1" "" "00004" "{PMID:Emmilia H Tan et al.(2012):23248692}" "" "" "Malaysia" "Malay" "" "M" "00000602" "" "" "" "1" "" "00004" "{PMID:Chung-Kin Chan et al.(2020):31720899}" "" "" "Malaysia" "Chinese" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00000226" "00035" "00000384" "00061" "00000385" "00061" "00000386" "00061" "00000387" "00061" "00000388" "00061" "00000389" "00061" "00000430" "00061" "00000432" "00061" "00000433" "00061" "00000456" "00061" "00000584" "00035" "00000602" "00117" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00035, 00061, 00117 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Additional}}" "{{Phenotype/Inheritance}}" "0000000134" "00061" "00000387" "00002" "SMEI: Severe myoclonic epilepsy in infancy / Dravet syndrome" "" "0000000135" "00061" "00000388" "00002" "SMEB-SW: SMEI borderland with no generalized spike-wave activity on EEG" "" "0000000136" "00061" "00000389" "00002" "SMEB-O: SMEI borderland with more than one atypical feature" "" "0000000203" "00035" "00000584" "00004" "mental retardation, developmental delay and autism features, unable to speak with no verbal communication" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000241" "00000226" "1" "00002" "00002" "2020-12-06 15:51:27" "" "" "DHPLC;PCR" "DNA" "0000000398" "00000384" "1" "00002" "00002" "2021-01-27 12:35:57" "" "" "SEQ;SBE" "DNA" "0000000399" "00000385" "1" "00002" "00002" "2021-01-27 12:44:22" "" "" "SEQ;SBE" "DNA" "0000000400" "00000386" "1" "00002" "00002" "2021-01-27 12:49:58" "" "" "SEQ;SBE" "DNA" "0000000401" "00000387" "1" "00002" "00002" "2021-01-28 13:22:14" "" "" "MLPA;PCR;SEQ" "DNA" "0000000402" "00000388" "1" "00002" "00002" "2021-01-28 13:36:52" "" "" "MLPA;PCR;SEQ" "DNA" "0000000403" "00000389" "1" "00002" "00002" "2021-01-31 10:49:57" "" "" "MLPA;PCR;SEQ" "DNA" "0000000464" "00000430" "1" "00004" "00004" "2021-02-18 15:12:28" "" "" "SBE" "DNA" "0000000465" "00000432" "1" "00004" "00004" "2021-02-18 15:18:37" "" "" "SBE" "DNA" "0000000466" "00000433" "1" "00004" "00004" "2021-02-18 15:21:36" "" "" "SBE" "DNA" "0000000495" "00000456" "1" "00004" "00004" "2021-02-24 10:29:28" "" "" "?" "DNA" "0000000646" "00000584" "1" "00004" "00004" "2021-04-19 09:53:23" "" "" "?" "?" "0000000668" "00000602" "1" "00004" "00004" "2021-04-28 15:25:25" "" "" "PCR;SEQ;TaqMan" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000000241" "SCN1A" "0000000398" "SCN1A" "0000000399" "SCN1A" "0000000400" "SCN1A" "0000000401" "SCN1A" "0000000402" "SCN1A" "0000000403" "SCN1A" "0000000464" "SCN1A" "0000000465" "SCN1A" "0000000466" "SCN1A" "0000000495" "SCN1A" "0000000646" "SCN1A" "0000000668" "SCN1A" ## 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 = 56 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000001126" "0" "90" "2" "166046888" "166046888" "subst" "0" "00002" "SCN1A_000001" "g.166046888G>A" "1/9" "{PMID:Emmilia Husni Tan et al. (2012):22944210}, {dbSNP:rs794726826}, {ClinVar:189996}" "A420V" "" "rs794726826" "0000001127" "0" "90" "2" "166042295" "166042295" "subst" "0" "00002" "SCN1A_000002" "g.166042295C>T" "1/9" "{PMID:Emmilia Husni Tan et al. (2012):22944210}" "E715K" "" "rs192221816" "0000001128" "0" "90" "2" "166039573" "166039573" "subst" "0" "00002" "SCN1A_000003" "g.166039573T>A" "1/9" "{PMID:Emmilia Husni Tan et al. (2012):22944210}" "P814P,T2439A" "" "rs34835657" "0000001129" "0" "90" "2" "166038079" "166038079" "subst" "0" "00002" "SCN1A_000004" "g.166038079C>G" "1/9" "{PMID:Emmilia Husni Tan et al. (2012):22944210}" "K871N,G2610C" "" "rs776985592" "0000001130" "0" "90" "2" "165999737" "165999737" "subst" "0" "00002" "SCN1A_000005" "g.165999737C>G" "1/9" "{PMID:Emmilia Husni Tan et al. (2012):22944210}" "V1432L,G4291C" "" "" "0000001131" "0" "90" "2" "165994208" "165994208" "subst" "0" "00002" "SCN1A_000006" "g.165994208T>C" "1/9" "{PMID:Emmilia Husni Tan et al. (2012):22944210}" "H1583R,A4748G" "" "" "0000001132" "0" "90" "2" "165992045" "165992045" "subst" "0" "00002" "SCN1A_000007" "g.165992045T>C" "1/9" "{PMID:Emmilia Husni Tan et al. (2012):22944210}" "N1733D,A5197G" "" "rs376234802" "0000001794" "0" "90" "2" "166053034" "166053034" "subst" "0" "00002" "SCN1A_000008" "g.166053034C>T" "130/282" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs3812718}, {ClinVar:12897}" "" "" "rs3812718" "0000001795" "3" "90" "2" "166053034" "166053034" "subst" "0" "00002" "SCN1A_000008" "g.166053034C>T" "39/282" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs3812718}, {ClinVar:12897}" "" "" "rs3812718" "0000001796" "0" "90" "2" "166053034" "166053034" "subst" "0" "00002" "SCN1A_000008" "g.166053034C>T" "66/151" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs3812718}, {ClinVar:12897}" "" "" "rs3812718" "0000001797" "3" "90" "2" "166053034" "166053034" "subst" "0" "00002" "SCN1A_000008" "g.166053034C>T" "19/151" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs3812718}, {IthaNet:[1]}{ClinVar:12897}" "" "" "rs3812718" "0000001798" "0" "90" "2" "166053034" "166053034" "subst" "0" "00002" "SCN1A_000008" "g.166053034C>T" "114/243" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs3812718}, {ClinVar:12897}" "" "" "rs3812718" "0000001799" "3" "90" "2" "166053034" "166053034" "subst" "0" "00002" "SCN1A_000008" "g.166053034C>T" "37/243" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs3812718}, {ClinVar:12897}" "" "" "rs3812718" "0000001800" "0" "90" "2" "165992369" "165992369" "subst" "0" "00002" "SCN1A_000013" "g.165992369G>A" "1/38" "{dbSNP:rs199727342}, {ClinVar:189870}" "" "" "rs199727342" "0000001801" "0" "90" "2" "166073375" "166073375" "subst" "0" "00002" "SCN1A_000014" "g.166073375A>C" "1/38" "" "" "" "rs1584294942" "0000001802" "0" "90" "2" "165996047" "165996047" "subst" "0" "00002" "SCN1A_000015" "g.165996047G>T" "1/38" "{dbSNP:rs139300715}, {ClinVar:206837}" "" "" "rs139300715" "0000001803" "0" "90" "2" "165991488" "165991488" "del" "0" "00002" "SCN1A_000016" "g.165991488del" "1/38" "" "" "" "" "0000001804" "0" "90" "2" "165991619" "165991619" "subst" "0" "00002" "SCN1A_000017" "g.165991619G>A" "1/38" "{dbSNP:rs779614747}, {ClinVar:189912}" "" "" "rs779614747" "0000001805" "0" "50" "2" "166036380" "166036380" "del" "0" "00002" "SCN1A_000018" "g.166036380del" "1/38" "{dbSNP: rs1599651707}, {ClinVar: 637394}" "" "" "rs1599651707" "0000001806" "0" "90" "2" "166009772" "166009778" "del" "0" "00002" "SCN1A_000019" "g.166009772_166009778del" "1/38" "" "3943_3949delCTCAGGA" "" "" "0000001807" "0" "90" "2" "166044010" "166044010" "subst" "0" "00002" "SCN1A_000020" "g.166044010G>A" "1/38" "{dbSNP:rs886039430}, {ClinVar:265254}" "" "" "rs886039430" "0000001808" "0" "90" "2" "166042334" "166042334" "subst" "0" "00002" "SCN1A_000021" "g.166042334G>A" "1/38" "{dbSNP:rs794726730} , {ClinVar:189886}" "" "" "rs794726730" "0000001809" "0" "10" "2" "166047645" "166047645" "subst" "0" "00002" "SCN1A_000022" "g.166047645C>T" "1/38" "{dbSNP:rs6434811}, {ClinVar: 402756}" "" "" "rs6434811" "0000001810" "0" "90" "2" "165992120" "165992120" "subst" "0" "00002" "SCN1A_000023" "g.165992120G>A" "1/38" "" "" "" "rs782367966" "0000001811" "0" "90" "2" "165992146" "165992146" "subst" "0" "00002" "SCN1A_000024" "g.165992146A>C" "1/38" "{dbSNP:rs1315439478}, {ClinVar:654934}" "" "" "rs1315439478" "0000001812" "0" "90" "2" "166046970" "166046970" "subst" "0" "00002" "SCN1A_000025" "g.166046970G>A" "1/38" "{dbSNP:rs121917929}, {ClinVar:68505}" "" "" "rs121917929" "0000001813" "0" "90" "2" "165994349" "165994349" "subst" "0" "00002" "SCN1A_000026" "g.165994349A>C" "1/38" "" "" "" "rs200655479" "0000001814" "0" "90" "2" "166051845" "166051845" "subst" "0" "00002" "SCN1A_000027" "g.166051845A>G" "1/38" "{dbSNP:rs121917938}, {ClinVar:68583}" "" "" "rs121917938" "0000001815" "0" "90" "2" "166037886" "166037886" "subst" "0" "00002" "SCN1A_000028" "g.166037886G>A" "1/38" "{ClinVar:68523}" "" "" "" "0000001816" "0" "50" "2" "166058673" "166058673" "subst" "0" "00002" "SCN1A_000029" "g.166058673T>G" "1/38" "{dbSNP:rs755835349}, {ClinVar: 522346}" "" "" "rs755835349" "0000001817" "0" "90" "2" "166039420" "166039420" "subst" "0" "00002" "SCN1A_000030" "g.166039420T>A" "1/38" "{dbSNP:rs794726775}, {ClinVar:189938}" "" "" "rs794726775" "0000001818" "0" "90" "2" "166046769" "166046769" "subst" "0" "00002" "SCN1A_000031" "g.166046769C>T" "1/38" "" "" "" "rs863223406" "0000001819" "0" "90" "2" "166041229" "166041229" "subst" "0" "00002" "SCN1A_000032" "g.166041229A>T" "1/38" "" "" "" "" "0000001820" "0" "90" "2" "166051741" "166051741" "subst" "0" "00002" "SCN1A_000033" "g.166051741C>T" "1/38" "" "" "" "rs763363403" "0000001821" "0" "90" "2" "165991541" "165991541" "subst" "0" "00002" "SCN1A_000034" "g.165991541G>A" "1/38" "{dbSNP:rs77216276}, {ClinVar:496124}" "" "" "rs77216276" "0000001822" "0" "90" "2" "166054734" "166054734" "subst" "0" "00002" "SCN1A_000035" "g.166054734G>C" "1/38" "{dbSNP:rs104893734}" "" "" "rs104893734" "0000001823" "0" "90" "2" "166042399" "166042400" "ins" "0" "00002" "SCN1A_000036" "g.166042399_166042400insA" "1/38" "" "" "" "" "0000001824" "0" "90" "2" "166036398" "166036398" "subst" "0" "00002" "SCN1A_000037" "g.166036398T>A" "1/38" "" "" "" "" "0000001825" "0" "90" "2" "166043898" "166043899" "del" "0" "00002" "SCN1A_000038" "g.166043898_166043899del" "1/38" "" "c.1813_1814delAG" "" "rs1555163017" "0000001826" "0" "90" "2" "166052891" "166052892" "del" "0" "00002" "SCN1A_000039" "g.166052891_166052892del" "1/38" "" "" "" "rs1591828796" "0000001827" "0" "90" "2" "166012159" "166012159" "subst" "0" "00002" "SCN1A_000040" "g.166012159G>A" "1/38" "{ClinVar:949865}" "" "" "" "0000001828" "0" "90" "2" "166047763" "166047763" "subst" "0" "00002" "SCN1A_000041" "g.166047763C>T" "1/38" "{dbSNP:rs1057518243}, {ClinVar:805380}" "" "" "rs1057518243" "0000001829" "0" "90" "2" "165991930" "165991930" "subst" "0" "00002" "SCN1A_000042" "g.165991930A>G" "1/38" "" "" "" "rs80356905" "0000001830" "0" "90" "2" "166056460" "166056460" "subst" "0" "00002" "SCN1A_000043" "g.166056460A>G" "1/38" "" "" "" "rs780232692" "0000001831" "0" "90" "2" "166037885" "166037885" "subst" "0" "00002" "SCN1A_000044" "g.166037885C>T" "2/38" "{ClinVar:68523}" "" "" "" "0000001832" "0" "90" "2" "166002684" "166002684" "subst" "0" "00002" "SCN1A_000045" "g.166002684A>G" "1/38" "" "" "" "rs377054979" "0000001833" "0" "90" "2" "166054637" "166054637" "subst" "0" "00002" "SCN1A_000046" "g.166054637C>T" "1/38" "{ClinVar:197187}" "" "" "" "0000001834" "0" "90" "2" "165994210" "165994212" "del" "0" "00002" "SCN1A_000047" "g.165994210_165994212del" "1/38" "" "" "" "" "0000002044" "0" "90" "2" "166909544" "166909544" "subst" "0" "00004" "SCN1A_000008" "g.166909544C>T" "" "{PMID:Batoul Sadat Haerian et al. (2015):25668517},{ClinVar: 12897}" "" "" "rs3812718" "0000002045" "0" "90" "2" "166909544" "166909544" "subst" "0" "00004" "SCN1A_000008" "g.166909544C>T" "" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "rs3812718" "0000002046" "0" "90" "2" "166909544" "166909544" "subst" "0" "00004" "SCN1A_000008" "g.166909544C>T" "" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "rs3812718" "0000002150" "0" "90" "2" "25606" "25606" "subst" "0" "00004" "SCN1A_000008" "g.25606G>A" "" "{PMID:Larry Baum et al.(2014):24337656}" "IVS5N+5G>A" "" "rs3812718" "0000002151" "0" "90" "2" "19253" "19253" "subst" "0" "00004" "SCN1A_000009" "g.19253A>G" "" "{PMID:Larry Baum et al.(2014):24337656}" "" "" "rs10188577" "0000002152" "0" "90" "2" "42362" "42362" "subst" "0" "00004" "SCN1A_000010" "g.42362G>C" "" "{PMID:Larry Baum et al.(2014):24337656}" "" "" "rs2298771" "0000002612" "0" "90" "2" "5694" "5694" "subst" "0" "00004" "SCN1A_000011" "g.5694A>G" "" "{PMID:Emmilia H Tan et al.(2012):23248692}" "" "" "rs138287354" "0000002671" "0" "90" "2" "165991522" "165991522" "subst" "0" "00004" "SCN1A_000012" "g.165991522G>A" "" "{PMID:Chung-Kin Chan et al.(2020):31720899}" "" "" "rs796053048" ## 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 SCN1A ## Count = 56 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001126" "00000055" "90" "1259" "0" "1259" "0" "c.1259C>T" "9" "p.(Ala420Val)" "r.(?)" "" "" "{ClinVar:189996}" "0000001127" "00000055" "90" "2173" "0" "2173" "0" "c.2173G>A" "12" "p.(Glu725Lys)" "r.(?)" "" "" "" "0000001128" "00000055" "90" "2439" "0" "2439" "0" "c.2439A>T" "14" "p.(=)" "r.(=)" "" "" "" "0000001129" "00000055" "90" "2643" "0" "2643" "0" "c.2643G>C" "15" "p.(Lys881Asn)" "r.(?)" "" "" "" "0000001130" "00000055" "90" "4324" "0" "4324" "0" "c.4324G>C" "22" "p.(Val1442Leu)" "r.(?)" "" "" "" "0000001131" "00000055" "90" "4790" "0" "4790" "0" "c.4790A>G" "25" "p.(His1597Arg)" "r.(?)" "" "" "" "0000001132" "00000055" "90" "5230" "0" "5230" "0" "c.5230A>G" "26" "p.(Asn1744Asp)" "r.(?)" "" "" "" "0000001794" "00000055" "90" "603" "-91" "603" "-91" "c.603-91G>A" "" "p.(=)" "r.(=)" "" "" "{ClinVar:12897}" "0000001795" "00000055" "90" "603" "-91" "603" "-91" "c.603-91G>A" "" "p.(=)" "r.(=)" "" "" "{ClinVar:12897}" "0000001796" "00000055" "90" "603" "-91" "603" "-91" "c.603-91G>A" "" "p.(=)" "r.(=)" "" "" "{ClinVar:12897}" "0000001797" "00000055" "90" "603" "-91" "603" "-91" "c.603-91G>A" "" "p.(=)" "r.(=)" "" "" "{ClinVar:12897}" "0000001798" "00000055" "90" "603" "-91" "603" "-91" "c.603-91G>A" "" "p.(=)" "r.(=)" "" "" "{ClinVar:12897}" "0000001799" "00000055" "90" "603" "-91" "603" "-91" "c.603-91G>A" "" "p.(=)" "r.(=)" "" "" "{ClinVar:12897}" "0000001800" "00000055" "90" "4906" "0" "4906" "0" "c.4906C>T" "26" "p.(Arg1636*)" "r.(?)" "" "" "{ClinVar:189870}" "0000001801" "00000055" "90" "247" "0" "247" "0" "c.247T>G" "1" "p.(Tyr83Asp)" "r.(?)" "" "" "" "0000001802" "00000055" "90" "4547" "0" "4547" "0" "c.4547C>A" "24" "p.(Ser1516*)" "r.(?)" "" "" "{ClinVar:206837}" "0000001803" "00000055" "90" "5788" "0" "5788" "0" "c.5788delC" "26" "p.(Leu1930Phefs*2)" "r.(?)" "" "" "" "0000001804" "00000055" "90" "5656" "0" "5656" "0" "c.5656C>T" "26" "p.(Arg1886*)" "r.(?)" "" "" "{ClinVar:189912}" "0000001805" "00000055" "50" "3099" "0" "3099" "0" "c.3099delT" "16" "p.(Phe1033Leufs*13)" "r.(?)" "" "" "{ClinVar: 637394}" "0000001806" "00000055" "90" "3943" "0" "3949" "0" "c.3943_3949del" "20" "p.(Leu1315Hisfs*2)" "r.(?)" "" "" "" "0000001807" "00000055" "90" "1702" "0" "1702" "0" "c.1702C>T" "11" "p.(Arg568*)" "r.(?)" "" "" "{ClinVar:265254}" "0000001808" "00000055" "90" "2134" "0" "2134" "0" "c.2134C>T" "12" "p.(Arg712*)" "r.(?)" "" "" "{ClinVar:189886}" "0000001809" "00000055" "10" "1152" "0" "1152" "0" "c.1152G>A" "8" "p.(Trp384*)" "r.(?)" "" "" "{ClinVar: 402756}" "0000001810" "00000055" "90" "5155" "0" "5155" "0" "c.5155C>T" "26" "p.(Gln1719*)" "r.(?)" "" "" "" "0000001811" "00000055" "90" "5129" "0" "5129" "0" "c.5129T>G" "26" "p.(Phe1710Cys)" "r.(?)" "" "" "{ClinVar: 654934}" "0000001812" "00000055" "90" "1177" "0" "1177" "0" "c.1177C>T" "9" "p.(Arg393Cys)" "r.(?)" "" "" "{ClinVar:68505}" "0000001813" "00000055" "90" "4649" "0" "4649" "0" "c.4649T>G" "25" "p.(Leu1550Arg)" "r.(?)" "" "" "" "0000001814" "00000055" "90" "838" "0" "838" "0" "c.838T>C" "" "p.(Trp280Arg)" "r.(?)" "" "" "{ClinVar:68583}" "0000001815" "00000055" "90" "2836" "0" "2836" "0" "c.2836C>T" "" "p.(Arg946Cys)" "r.(?)" "" "" "" "0000001816" "00000055" "50" "280" "0" "280" "0" "c.280A>C" "" "p.(Asn94His)" "r.(?)" "" "" "{ClinVar: 522346}" "0000001817" "00000055" "90" "2589" "3" "2589" "3" "c.2589+3A>T" "" "p.?" "r.spl?" "" "" "{ClinVar:189938}" "0000001818" "00000055" "90" "1377" "1" "1377" "1" "c.1377+1G>A" "" "p.?" "r.spl?" "" "" "" "0000001819" "00000055" "90" "2415" "2" "2415" "2" "c.2415+2T>A" "" "p.?" "r.spl?" "" "" "" "0000001820" "00000055" "90" "942" "0" "942" "0" "c.942G>A" "" "p.(Trp314*)" "r.(?)" "" "" "" "0000001821" "00000055" "90" "5734" "0" "5734" "0" "c.5734C>T" "" "p.(Arg1912*)" "r.(?)" "" "" "{ClinVar:496124}" "0000001822" "00000055" "90" "506" "0" "506" "0" "c.506C>G" "" "p.(Ser169*)" "r.(?)" "" "" "" "0000001823" "00000055" "90" "2068" "0" "2069" "0" "c.2068_2069insT" "" "p.(Arg690Metfs*39)" "r.(?)" "" "" "" "0000001824" "00000055" "90" "3079" "0" "3079" "0" "c.3079A>T" "" "p.(Lys1027*)" "r.(?)" "" "" "" "0000001825" "00000055" "90" "1813" "0" "1814" "0" "c.1813_1814del" "" "p.(Asp606Phefs*21)" "r.(?)" "" "" "" "0000001826" "00000055" "90" "654" "0" "655" "0" "c.654_655delCA" "" "p.(Phe218Leufs*58)" "r.(?)" "" "" "" "0000001827" "00000055" "90" "3829" "0" "3829" "0" "c.3829C>T" "" "p.(Gln1277*)" "r.(?)" "" "" "" "0000001828" "00000055" "90" "1034" "0" "1034" "0" "c.1034G>A" "" "p.(Cys345Tyr)" "r.(?)" "" "" "{ClinVar:805380}" "0000001829" "00000055" "90" "5345" "0" "5345" "0" "c.5345T>C" "" "p.(Ile1782Thr)" "r.(?)" "" "" "" "0000001830" "00000055" "90" "424" "0" "424" "0" "c.424T>C" "" "p.(Cys142Arg)" "r.(?)" "" "" "" "0000001831" "00000055" "90" "2837" "0" "2837" "0" "c.2837G>A" "" "p.(Arg946His)" "r.(?)" "" "" "" "0000001832" "00000055" "90" "4072" "0" "4072" "0" "c.4072T>C" "" "p.(Trp1358Arg)" "r.(?)" "" "" "" "0000001833" "00000055" "90" "602" "1" "602" "1" "c.602+1G>A" "" "p.?" "r.spl?" "" "" "" "0000001834" "00000055" "90" "4786" "0" "4788" "0" "c.4786_4788delCGC" "" "p.(Arg1596del)" "r.(?)" "" "" "" "0000002044" "00000055" "90" "603" "-91" "603" "-91" "c.603-91G>A" "" "p.(=)" "r.(=)" "" "" "drug response" "0000002045" "00000055" "90" "603" "-91" "603" "-91" "c.603-91G>A" "" "p.(=)" "r.(=)" "" "" "drug response" "0000002046" "00000055" "90" "603" "-91" "603" "-91" "c.603-91G>A" "" "p.(=)" "r.(=)" "" "" "drug response" "0000002150" "00000055" "90" "603" "-91" "603" "-91" "c.603-91G>A" "" "p.(=)" "r.(=)" "" "" "" "0000002151" "00000055" "90" "265" "-699" "265" "-699" "c.265-699A>G" "" "p.(=)" "r.(=)" "" "" "" "0000002152" "00000055" "90" "3199" "0" "3199" "0" "c.3199G>C" "" "p.(Ala1067Pro)" "r.(?)" "" "" "Benign" "0000002612" "00000055" "90" "5197" "0" "5197" "0" "c.5197A>G" "26" "p.(Ile1733Val)" "r.(?)" "" "" "" "0000002671" "00000055" "90" "5753" "0" "5753" "0" "c.5753C>T" "26" "p.(Ser1918Phe)" "r.(?)" "" "" "Likely Pathogenic" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 56 "{{screeningid}}" "{{variantid}}" "0000000241" "0000001126" "0000000241" "0000001127" "0000000241" "0000001128" "0000000241" "0000001129" "0000000241" "0000001130" "0000000241" "0000001131" "0000000241" "0000001132" "0000000398" "0000001794" "0000000398" "0000001795" "0000000399" "0000001796" "0000000399" "0000001797" "0000000400" "0000001798" "0000000400" "0000001799" "0000000401" "0000001800" "0000000401" "0000001801" "0000000402" "0000001802" "0000000402" "0000001803" "0000000402" "0000001804" "0000000402" "0000001805" "0000000402" "0000001806" "0000000402" "0000001807" "0000000402" "0000001808" "0000000402" "0000001809" "0000000402" "0000001810" "0000000402" "0000001811" "0000000402" "0000001812" "0000000402" "0000001813" "0000000402" "0000001814" "0000000402" "0000001815" "0000000402" "0000001816" "0000000402" "0000001817" "0000000402" "0000001818" "0000000402" "0000001819" "0000000403" "0000001820" "0000000403" "0000001821" "0000000403" "0000001822" "0000000403" "0000001823" "0000000403" "0000001824" "0000000403" "0000001825" "0000000403" "0000001826" "0000000403" "0000001827" "0000000403" "0000001828" "0000000403" "0000001829" "0000000403" "0000001830" "0000000403" "0000001831" "0000000403" "0000001832" "0000000403" "0000001833" "0000000403" "0000001834" "0000000464" "0000002044" "0000000465" "0000002045" "0000000466" "0000002046" "0000000495" "0000002150" "0000000495" "0000002151" "0000000495" "0000002152" "0000000646" "0000002612" "0000000668" "0000002671"