### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HELLS) # 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}}" "HELLS" "helicase, lymphoid-specific" "10" "q24.2" "unknown" "NG_047057.1" "UD_132319359085" "" "https://www.LOVD.nl/HELLS" "" "1" "4861" "3070" "603946" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/HELLS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-06-28 16:57:50" "00000" "2023-07-07 10:10:56" ## 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}}" "00009252" "HELLS" "helicase, lymphoid-specific" "001" "NM_018063.3" "" "NP_060533.2" "" "" "" "-105" "2994" "2517" "96305574" "96361856" "" "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}}" "04273" "ICF" "immunodeficiency-centromeric instability-facial anomalies syndrome (ICF)" "" "" "" "" "" "00006" "2015-05-18 08:56:14" "" "" "04276" "ICF4" "immunodeficiency-centromeric instability-facial anomalies syndrome, type 4 (ICF-4)" "" "603946" "" "autosomal recessive" "" "00006" "2015-05-21 10:28:57" "00006" "2021-12-10 21:51:32" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" "06074" "ICF4" "Immunodeficiency-centromeric instability-facial anomalies syndrome 4" "AR" "616911" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "HELLS" "04273" "HELLS" "04276" "HELLS" "06074" ## 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}}" "00038699" "" "" "" "1" "" "01301" "{PMID:Thijssen 2015:26216346}" "female from 2-generation family E (2 affected sibs), unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" ">15y" "0" "" "stem cell transplantation" "English" "" "00038700" "" "" "" "1" "" "01301" "{PMID:Thijssen 2015:26216346}" "male from 2-generation family E (2 affected sibs), unaffected heterozygous carrier parents" "M" "no" "United Kingdom (Great Britain)" ">08y" "0" "" "stem cell transplantation" "English" "" "00038701" "" "" "" "1" "" "01301" "{PMID:Thijssen 2015:26216346}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "?" "Japan" "01y03m" "0" "" "" "Japanese" "" "00038702" "" "" "" "1" "" "01301" "{PMID:Thijssen 2015:26216346}" "2-generation family, unaffected heterozygous carrier parents" "M" "yes" "France" ">17y" "0" "" "" "" "" "00038703" "" "" "" "1" "" "01301" "{PMID:Thijssen 2015:26216346}" "2-generation family, unaffected heterozygous carrier parents" "F" "no" "Italy" ">05y" "0" "" "" "" "" "00334865" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335037" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00038699" "04273" "00038700" "04273" "00038701" "04273" "00038702" "04276" "00038703" "04276" "00334865" "05793" "00335037" "05793" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04273, 04276, 05793, 06074 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Weight}}" "{{Phenotype/Infections/Recurrent}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000029094" "04273" "00038699" "01301" "Isolated (sporadic)" "" "facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (pneumonia, pneumocystis); IgG <<0.33 g/l, IgA <0.07g/l, IgM 0.10g/l" "" "2400g" "yes" "" "" "" "no motor" "mild" "" "" "" "" "" "0000029095" "04273" "00038700" "01301" "Isolated (sporadic)" "" "facial anomalies (HP:0001999), no gastrointestinal problems; IgG 8.05 g/l (maternal), IgA <0.3 g/l, IgM <0.22 g/l" "" "3100g" "no" "" "" "" "motor" "no" "" "" "" "" "" "0000029096" "04273" "00038701" "01301" "Isolated (sporadic)" "" "facial anomalies (HP:0001999), no gastrointestinal problems, infections (pneumonia, pneumocystis); IgG 0.23 g/l, IgA 0.06g/l, IgM 0.05 g/l; cytogenetic abnormalities include stretching, associations, rosettes, branching, micronuclei, decondensation" "" "1770g" "yes" "" "" "" "no" "?" "" "" "" "" "" "0000029097" "04276" "00038702" "01301" "Isolated (sporadic)" "" "facial anomalies (HP:0001999), no gastrointestinal problems, infections (otitis, pneumonia); IgG 0.91 g/l, IgA <0.04 g/l, IgM 0.04 g/l; cytogenetic abnormalities include translocations, deletions" "" "3830g" "no" "" "" "" "no" "yes" "" "" "" "" "" "0000029098" "04276" "00038703" "01301" "Isolated (sporadic)" "" "facial anomalies (HP:0001999), no gastrointestinal problems, infections (bronchitis); IgA <0.04 g/l, IgM <0.04 g/l; cytogenetic abnormalities include rosettes" "" "900g" "yes" "" "" "" "motor" "yes" "" "" "" "" "" "0000253262" "05793" "00334865" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "0000253319" "05793" "00335037" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" ## 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}}" "0000038935" "00038699" "1" "01301" "00006" "2015-05-22 10:07:50" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000038936" "00038700" "1" "01301" "00006" "2015-05-22 10:28:29" "" "" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "" "" "0000038937" "00038701" "1" "01301" "00006" "2015-05-22 11:01:35" "" "" "SEQ" "DNA" "" "" "0000038938" "00038702" "1" "01301" "00006" "2015-05-22 11:12:19" "" "" "SEQ" "DNA" "" "" "0000038939" "00038703" "1" "01301" "00006" "2015-05-22 11:24:35" "" "" "SEQ" "DNA" "" "" "0000336094" "00334865" "1" "04011" "04011" "2021-03-02 07:52:07" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336266" "00335037" "1" "04011" "04011" "2021-03-03 06:11:42" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000038935" "HELLS" "0000038936" "HELLS" "0000038937" "HELLS" "0000038938" "HELLS" "0000038939" "HELLS" ## 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}}" "0000066757" "11" "90" "10" "96354459" "96354459" "subst" "0" "01301" "HELLS_000001" "g.96354459A>G" "" "{PMID:Thijssen 2015:26216346}" "" "" "alpha-satellite hypomethylation" "Germline" "yes" "" "0" "" "" "g.94594702A>G" "" "pathogenic" "" "0000066758" "21" "90" "10" "96322486" "96322486" "subst" "8.42361E-6" "01301" "HELLS_000002" "g.96322486T>A" "" "{PMID:Thijssen 2015:26216346}" "" "skips ex5" "alpha-satellite hypomethylation" "Germline" "yes" "" "0" "" "" "g.94562729T>A" "" "pathogenic" "" "0000066759" "21" "90" "10" "96322486" "96322486" "subst" "8.42361E-6" "01301" "HELLS_000002" "g.96322486T>A" "" "{PMID:Thijssen 2015:26216346}" "" "skip ex5" "" "Germline" "yes" "" "0" "" "" "g.94562729T>A" "" "pathogenic" "" "0000066760" "3" "90" "10" "96356651" "96356654" "del" "0" "01301" "HELLS_000003" "g.96356651_96356654del" "" "{PMID:Thijssen 2015:26216346}" "" "2283_2286delGTCT" "alpha-satellite hypomethylation" "Germline" "yes" "" "0" "" "" "g.94596894_94596897del" "" "pathogenic" "" "0000066761" "3" "70" "10" "96356846" "96356848" "del" "0" "01301" "HELLS_000004" "g.96356846_96356848del" "" "{PMID:Thijssen 2015:26216346}" "" "2400_2402delGTT" "alpha-satellite hypomethylation" "Germline" "yes" "" "0" "" "" "g.94597089_94597091del" "" "likely pathogenic" "" "0000066762" "11" "90" "10" "96333849" "96333849" "subst" "0" "01301" "HELLS_000005" "g.96333849A>T" "" "{PMID:Thijssen 2015:26216346}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94574092A>T" "" "pathogenic" "" "0000066763" "21" "90" "10" "96322572" "96322579" "dup" "0" "01301" "HELLS_000006" "g.96322572_96322579dup" "" "{PMID:Thijssen 2015:26216346}" "" "c.374_381dup" "" "Germline" "yes" "" "0" "" "" "g.94562815_94562822dup" "" "pathogenic" "" "0000066764" "11" "90" "10" "96354459" "96354459" "subst" "0" "01301" "HELLS_000001" "g.96354459A>G" "" "{PMID:Thijssen 2015:26216346}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94594702A>G" "" "pathogenic" "" "0000289003" "0" "30" "10" "96322448" "96322448" "subst" "0.00165535" "01943" "HELLS_000007" "g.96322448G>A" "" "" "" "HELLS(NM_001289067.1):c.334G>A (p.G112S), HELLS(NM_018063.5):c.334G>A (p.G112S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94562691G>A" "" "likely benign" "" "0000541689" "0" "30" "10" "96336523" "96336523" "subst" "0.00573843" "01943" "HELLS_000008" "g.96336523G>A" "" "" "" "HELLS(NM_001289067.1):c.993G>A (p.T331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94576766G>A" "" "likely benign" "" "0000541690" "0" "30" "10" "96342748" "96342748" "subst" "0.00056822" "01943" "HELLS_000009" "g.96342748C>G" "" "" "" "HELLS(NM_001289067.1):c.1258C>G (p.L420V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94582991C>G" "" "likely benign" "" "0000541691" "0" "30" "10" "96354481" "96354481" "subst" "0.000898389" "02326" "HELLS_000010" "g.96354481T>C" "" "" "" "HELLS(NM_001289067.1):c.2256T>C (p.D752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94594724T>C" "" "likely benign" "" "0000612822" "0" "50" "10" "96336485" "96336485" "subst" "3.25087E-5" "01943" "HELLS_000011" "g.96336485C>T" "" "" "" "HELLS(NM_001289067.1):c.955C>T (p.R319W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94576728C>T" "" "VUS" "" "0000656608" "0" "30" "10" "96351996" "96351996" "subst" "5.31345E-5" "01943" "HELLS_000012" "g.96351996A>C" "" "" "" "HELLS(NM_001289067.1):c.1916A>C (p.E639A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94592239A>C" "" "likely benign" "" "0000690848" "0" "30" "10" "96313879" "96313879" "subst" "2.4261E-5" "01943" "HELLS_000013" "g.96313879A>C" "" "" "" "HELLS(NM_001289067.1):c.154-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000735106" "0" "70" "10" "96313907" "96313907" "subst" "0" "04011" "HELLS_000014" "g.96313907T>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735512" "0" "70" "10" "96313907" "96313907" "subst" "0" "04011" "HELLS_000014" "g.96313907T>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000804646" "0" "30" "10" "96306265" "96306265" "subst" "0.000963556" "02326" "HELLS_000015" "g.96306265G>T" "" "" "" "HELLS(NM_018063.5):c.153+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804647" "0" "30" "10" "96322608" "96322608" "subst" "0.000134007" "01943" "HELLS_000016" "g.96322608A>G" "" "" "" "HELLS(NM_001289067.1):c.410A>G (p.N137S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804648" "0" "30" "10" "96361277" "96361277" "subst" "0" "02326" "HELLS_000017" "g.96361277T>C" "" "" "" "HELLS(NM_018063.5):c.2423-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862099" "0" "50" "10" "96336443" "96336443" "subst" "0.000606317" "01943" "HELLS_000018" "g.96336443A>G" "" "" "" "HELLS(NM_001289067.1):c.913A>G (p.T305A), HELLS(NM_018063.5):c.913A>G (p.T305A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862100" "0" "50" "10" "96350453" "96350453" "subst" "0" "01943" "HELLS_000019" "g.96350453A>G" "" "" "" "HELLS(NM_001289067.1):c.1825A>G (p.I609V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889346" "0" "30" "10" "96322448" "96322448" "subst" "0.00165535" "02326" "HELLS_000007" "g.96322448G>A" "" "" "" "HELLS(NM_001289067.1):c.334G>A (p.G112S), HELLS(NM_018063.5):c.334G>A (p.G112S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889347" "0" "30" "10" "96336443" "96336443" "subst" "0.000606317" "02326" "HELLS_000018" "g.96336443A>G" "" "" "" "HELLS(NM_001289067.1):c.913A>G (p.T305A), HELLS(NM_018063.5):c.913A>G (p.T305A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889348" "0" "30" "10" "96341074" "96341074" "subst" "5.05035E-5" "02326" "HELLS_000020" "g.96341074G>A" "" "" "" "HELLS(NM_018063.5):c.1033-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889349" "0" "30" "10" "96342742" "96342742" "subst" "4.16458E-6" "02326" "HELLS_000021" "g.96342742A>G" "" "" "" "HELLS(NM_018063.5):c.1252A>G (p.T418A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889350" "0" "30" "10" "96350249" "96350249" "subst" "6.95627E-5" "02326" "HELLS_000022" "g.96350249A>T" "" "" "" "HELLS(NM_018063.5):c.1568A>T (p.D523V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913379" "0" "30" "10" "96353289" "96353289" "subst" "0" "02326" "HELLS_000023" "g.96353289A>T" "" "" "" "HELLS(NM_018063.5):c.2005A>T (p.I669F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925233" "0" "30" "10" "96317890" "96317890" "subst" "0" "02326" "HELLS_000024" "g.96317890T>A" "" "" "" "HELLS(NM_018063.5):c.277-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929736" "0" "30" "10" "96336487" "96336487" "subst" "0" "02326" "HELLS_000025" "g.96336487G>C" "" "" "" "HELLS(NM_018063.5):c.957G>C (p.R319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 HELLS ## 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}}" "0000066757" "00009252" "90" "2096" "0" "2096" "0" "c.2096A>G" "r.(?)" "p.(Gln699Arg)" "19" "0000066758" "00009252" "90" "370" "2" "370" "2" "c.370+2T>A" "r.334_370del" "p.Gly112Leufs*2" "5i" "0000066759" "00009252" "90" "370" "2" "370" "2" "c.370+2T>A" "r.334_370del" "p.Gly112Leufs*2" "5i" "0000066760" "00009252" "90" "2283" "0" "2286" "0" "c.2283_2286del" "r.(?)" "p.(Pro762Argfs*4)" "20" "0000066761" "00009252" "70" "2400" "0" "2402" "0" "c.2400_2402del" "r.(?)" "p.(Leu801del)" "21" "0000066762" "00009252" "90" "610" "0" "610" "0" "c.610A>T" "r.(?)" "p.(Lys204*)" "8" "0000066763" "00009252" "90" "374" "0" "381" "0" "c.374_381dup" "r.(?)" "p.(Lys128*)" "6" "0000066764" "00009252" "90" "2096" "0" "2096" "0" "c.2096A>G" "r.(?)" "p.(Gln699Arg)" "19" "0000289003" "00009252" "30" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Gly112Ser)" "" "0000541689" "00009252" "30" "993" "0" "993" "0" "c.993G>A" "r.(?)" "p.(Thr331=)" "" "0000541690" "00009252" "30" "1258" "0" "1258" "0" "c.1258C>G" "r.(?)" "p.(Leu420Val)" "" "0000541691" "00009252" "30" "2118" "0" "2118" "0" "c.2118T>C" "r.(?)" "p.(Asp706=)" "" "0000612822" "00009252" "50" "955" "0" "955" "0" "c.955C>T" "r.(?)" "p.(Arg319Trp)" "" "0000656608" "00009252" "30" "1778" "0" "1778" "0" "c.1778A>C" "r.(?)" "p.(Glu593Ala)" "" "0000690848" "00009252" "30" "154" "-4" "154" "-4" "c.154-4A>C" "r.spl?" "p.?" "" "0000735106" "00009252" "50" "178" "0" "178" "0" "c.178T>G" "r.(?)" "p.(Ser60Ala)" "" "0000735512" "00009252" "50" "178" "0" "178" "0" "c.178T>G" "r.(?)" "p.(Ser60Ala)" "" "0000804646" "00009252" "30" "153" "10" "153" "10" "c.153+10G>T" "r.(=)" "p.(=)" "" "0000804647" "00009252" "30" "410" "0" "410" "0" "c.410A>G" "r.(?)" "p.(Asn137Ser)" "" "0000804648" "00009252" "30" "2423" "-8" "2423" "-8" "c.2423-8T>C" "r.(=)" "p.(=)" "" "0000862099" "00009252" "50" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Thr305Ala)" "" "0000862100" "00009252" "50" "1687" "0" "1687" "0" "c.1687A>G" "r.(?)" "p.(Ile563Val)" "" "0000889346" "00009252" "30" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Gly112Ser)" "" "0000889347" "00009252" "30" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Thr305Ala)" "" "0000889348" "00009252" "30" "1033" "-9" "1033" "-9" "c.1033-9G>A" "r.(=)" "p.(=)" "" "0000889349" "00009252" "30" "1252" "0" "1252" "0" "c.1252A>G" "r.(?)" "p.(Thr418Ala)" "" "0000889350" "00009252" "30" "1568" "0" "1568" "0" "c.1568A>T" "r.(?)" "p.(Asp523Val)" "" "0000913379" "00009252" "30" "2005" "0" "2005" "0" "c.2005A>T" "r.(?)" "p.(Ile669Phe)" "" "0000925233" "00009252" "30" "277" "-6" "277" "-6" "c.277-6T>A" "r.(=)" "p.(=)" "" "0000929736" "00009252" "30" "957" "0" "957" "0" "c.957G>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000038935" "0000066757" "0000038935" "0000066758" "0000038936" "0000066759" "0000038936" "0000066764" "0000038937" "0000066760" "0000038938" "0000066761" "0000038939" "0000066762" "0000038939" "0000066763" "0000336094" "0000735106" "0000336266" "0000735512"