### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = LIG4)
# 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}}"
"LIG4" "ligase IV, DNA, ATP-dependent" "13" "q33-q34" "unknown" "LRG_79" "UD_132118920116" "" "https://www.LOVD.nl/LIG4" "LIG4base: Mutation registry for LIG4 syndrome " "1" "6601" "3981" "601837" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-06-14 22:47:59" "00000" "2025-05-05 21:14:00"
## 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}}"
"00011127" "LIG4" "transcript variant 1" "003" "NM_002312.3" "" "NP_002303.2" "" "" "" "-273" "3827" "2736" "108867130" "108859790" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00277" "DWFP" "dwarfism, primordial (DWFP)" "" "" "" "" "" "00006" "2013-11-22 16:21:08" "00006" "2015-12-07 07:11:25"
"00987" "LIG4 syndrome" "LIG4 syndrome" "AR" "606593" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"00988" "RSSCID" "immunodeficiency, severe combined, Athabascan type" "AR" "602450" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-11 13:56:28"
"01950" "-" "myeloma, multiple" "SMu" "254500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05"
"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"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}" "{{diseaseid}}"
"LIG4" "00139"
"LIG4" "00987"
"LIG4" "00988"
"LIG4" "01950"
## Individuals ## Do not remove or alter this header ##
## Count = 17
"{{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}}"
"00105009" "" "" "" "2" "" "00006" "{PMID:Murray 2015:25728776}, {DOI:Murray 2015:10.1016/j.ajhg.2015.01.013}" "2-generation family, dizygotic twins, unaffected heterozygous carrier parents" "F;M" "" "" "" "0" "" "" "" "25728776-Fam"
"00240071" "" "" "" "1" "" "03024" "" "" "M" "no" "Netherlands" "6m" "0" "" "" "" ""
"00240072" "" "" "" "1" "" "03025" "" "" "M" "no" "" "" "0" "" "" "" ""
"00240073" "" "" "" "1" "" "03025" "" "" "F" "no" "" "" "0" "" "" "" ""
"00240074" "" "" "" "2" "" "03025" "" "" "F" "no" "" "" "0" "" "" "" ""
"00240075" "" "" "" "1" "" "03025" "" "" "F" "no" "" "" "0" "" "" "" ""
"00240076" "" "" "" "1" "" "03025" "" "" "M" "no" "" "" "0" "" "" "" ""
"00240077" "" "" "" "1" "" "03025" "" "" "F" "no" "" "" "0" "" "" "" ""
"00240078" "" "" "" "1" "" "03025" "" "" "F" "no" "" "" "0" "" "" "" ""
"00240079" "" "" "" "1" "" "03025" "" "" "F" "no" "" "" "0" "" "" "" ""
"00240080" "" "" "" "1" "" "03025" "" "" "F" "no" "" "" "0" "" "" "" ""
"00240081" "" "" "" "1" "" "03025" "" "" "F" "no" "" "" "0" "" "" "" ""
"00334371" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00334491" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00334847" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00334861" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00433067" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "Norway" "" "0" "" "" "" "Pat38,1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 17
"{{individualid}}" "{{diseaseid}}"
"00105009" "00277"
"00240071" "00198"
"00240072" "00987"
"00240073" "00987"
"00240074" "00987"
"00240075" "00987"
"00240076" "00987"
"00240077" "00987"
"00240078" "00987"
"00240079" "00987"
"00240080" "00987"
"00240081" "00987"
"00334371" "05793"
"00334491" "05793"
"00334847" "05793"
"00334861" "05793"
"00433067" "05292"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00277, 00987, 00988, 01950, 05292, 05793
## Count = 17
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Growth/Height_SDS}}" "{{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}}"
"0000082900" "00277" "00105009" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000180233" "00198" "00240071" "03024" "Isolated (sporadic)" "" "LIG4 deficiency, severe dysmaturity, primordial dwarfism, neurological abnormalities, immunodeficiency" "00d" "" "" "" "" "" "" "" "" "" "" "" ""
"0000180234" "00987" "00240072" "03025" "Familial, autosomal recessive" "" "Microcephalic Primordial Dwarfism, Severe combined immunodeficiency" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000180235" "00987" "00240073" "03025" "Familial, autosomal recessive" "" "Microcephalic Primordial Dwarfism, Bone Marrow Failure, Immunodeficiency" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000180236" "00987" "00240074" "03025" "Familial, autosomal recessive" "" "Microcephalic Primordial Dwarfism, Bone Marrow Failure, Immunodeficiency" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000180237" "00987" "00240075" "03025" "Familial, autosomal recessive" "" "Microcephalic Primordial Dwarfism, Bone Marrow Failure, Immunodeficiency" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000180238" "00987" "00240076" "03025" "Familial, autosomal recessive" "" "Microcephalic Primordial Dwarfism, Bone Marrow Failure, Immunodeficiency" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000180239" "00987" "00240077" "03025" "Familial, autosomal recessive" "" "Microcephalic Primordial Dwarfism, Bone Marrow Failure, Immunodeficiency" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000180240" "00987" "00240078" "03025" "Familial, autosomal recessive" "" "Microcephalic Primordial Dwarfism, Bone Marrow Failure, Immunodeficiency" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000180241" "00987" "00240079" "03025" "Familial, autosomal recessive" "" "Microcephalic Primordial Dwarfism, Bone Marrow Failure, Immunodeficiency" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000180242" "00987" "00240080" "03025" "Familial, autosomal recessive" "" "Microcephalic Primordial Dwarfism, Bone Marrow Failure, Immunodeficiency" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000180243" "00987" "00240081" "03025" "Familial, autosomal recessive" "" "Microcephalic Primordial Dwarfism, Bone Marrow Failure, Immunodeficiency" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000253166" "05793" "00334371" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253204" "05793" "00334491" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253244" "05793" "00334847" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253258" "05793" "00334861" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000323593" "05292" "00433067" "00006" "Familial, autosomal recessive" "5y" "combined immunodeficiency (not SCID), selective T cell deficiency" "" "" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" ""
## Screenings ## Do not remove or alter this header ##
## Count = 17
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000105482" "00105009" "1" "00006" "00006" "2017-06-14 22:52:32" "" "" "SEQ" "DNA" "" ""
"0000241175" "00240071" "1" "03024" "03024" "2013-08-27 01:06:59" "" "" "SEQ" "DNA" "" ""
"0000241176" "00240072" "1" "03025" "03025" "2013-09-04 23:01:48" "" "" "SEQ" "DNA" "" ""
"0000241177" "00240073" "1" "03025" "03025" "2013-09-04 22:44:40" "" "" "SEQ" "DNA" "" ""
"0000241178" "00240074" "1" "03025" "03025" "2013-09-04 21:56:05" "03025" "2013-09-04 22:06:26" "SEQ" "DNA" "" ""
"0000241179" "00240075" "1" "03025" "03025" "2013-09-04 22:20:47" "" "" "SEQ" "DNA" "" ""
"0000241180" "00240076" "1" "03025" "03025" "2013-09-04 22:26:17" "" "" "SEQ" "DNA" "" ""
"0000241181" "00240077" "1" "03025" "03025" "2013-09-04 22:30:41" "" "" "SEQ" "DNA" "" ""
"0000241182" "00240078" "1" "03025" "03025" "2013-09-04 22:48:57" "" "" "SEQ" "DNA" "" ""
"0000241183" "00240079" "1" "03025" "03025" "2013-09-04 22:36:25" "" "" "SEQ" "DNA" "" ""
"0000241184" "00240080" "1" "03025" "03025" "2013-09-04 22:04:47" "" "" "SEQ" "DNA" "" ""
"0000241185" "00240081" "1" "03025" "03025" "2013-09-04 22:11:51" "" "" "SEQ" "DNA" "" ""
"0000335599" "00334371" "1" "04011" "04011" "2021-02-28 08:59:47" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000335720" "00334491" "1" "04011" "04011" "2021-03-01 06:08:32" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000336076" "00334847" "1" "04011" "04011" "2021-03-02 02:56:20" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000336090" "00334861" "1" "04011" "04011" "2021-03-02 07:27:33" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000434498" "00433067" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 12
"{{screeningid}}" "{{geneid}}"
"0000105482" "LIG4"
"0000241175" "LIG4"
"0000241176" "LIG4"
"0000241177" "LIG4"
"0000241178" "LIG4"
"0000241179" "LIG4"
"0000241180" "LIG4"
"0000241181" "LIG4"
"0000241182" "LIG4"
"0000241183" "LIG4"
"0000241184" "LIG4"
"0000241185" "LIG4"
## 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 = 86
"{{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}}"
"0000170905" "2" "90" "13" "108861296" "108861296" "subst" "0" "00006" "LIG4_000010" "g.108861296A>G" "" "{PMID:Murray 2015:25728776}, {DOI:Murray 2015:10.1016/j.ajhg.2015.01.013}" "" "" "" "Germline" "" "" "0" "" "" "g.108208948A>G" "" "pathogenic" ""
"0000170906" "1" "90" "13" "108861177" "108861177" "subst" "9.75166E-5" "00006" "LIG4_000003" "g.108861177G>A" "" "{PMID:Murray 2015:25728776}, {DOI:Murray 2015:10.1016/j.ajhg.2015.01.013}" "" "Arg814*" "" "Germline" "" "" "0" "" "" "g.108208829G>A" "" "pathogenic" ""
"0000248663" "0" "10" "13" "108861913" "108861913" "subst" "0.133393" "02325" "LIG4_000017" "g.108861913A>G" "" "" "" "LIG4(NM_002312.3):c.1704T>C (p.D568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108209565A>G" "" "benign" ""
"0000253690" "0" "10" "13" "108862702" "108862702" "subst" "0.00124374" "01943" "LIG4_000020" "g.108862702A>G" "" "" "" "LIG4(NM_002312.3):c.915T>C (p.S305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108210354A>G" "" "benign" ""
"0000282216" "0" "50" "13" "108862079" "108862079" "subst" "3.65527E-5" "02325" "LIG4_000018" "g.108862079T>C" "" "" "" "LIG4(NM_002312.3):c.1538A>G (p.K513R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108209731T>C" "" "VUS" ""
"0000282217" "0" "50" "13" "108862830" "108862830" "subst" "0" "02325" "LIG4_000022" "g.108862830T>C" "" "" "" "LIG4(NM_002312.3):c.787A>G (p.M263V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108210482T>C" "" "VUS" ""
"0000285977" "0" "90" "13" "108862320" "108862322" "del" "0" "02326" "LIG4_000019" "g.108862320_108862322del" "" "" "" "LIG4(NM_002312.3):c.1298_1300delAAC (p.Q433del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108209972_108209974del" "" "pathogenic" ""
"0000285978" "0" "30" "13" "108861819" "108861819" "subst" "0.0015837" "02326" "LIG4_000015" "g.108861819C>T" "" "" "" "LIG4(NM_002312.3):c.1798G>A (p.E600K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108209471C>T" "" "likely benign" ""
"0000285979" "0" "10" "13" "108861048" "108861048" "subst" "0.0075013" "02326" "LIG4_000012" "g.108861048C>T" "" "" "" "LIG4(NM_002312.3):c.2569G>A (p.A857T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108208700C>T" "" "benign" ""
"0000290983" "0" "30" "13" "108861351" "108861351" "subst" "1.6269E-5" "01943" "LIG4_000013" "g.108861351G>A" "" "" "" "LIG4(NM_002312.3):c.2266C>T (p.R756C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108209003G>A" "" "likely benign" ""
"0000290984" "0" "90" "13" "108862784" "108862784" "subst" "1.22308E-5" "01943" "LIG4_000021" "g.108862784C>T" "" "" "" "LIG4(NM_002312.3):c.833G>A (p.R278H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108210436C>T" "" "pathogenic" ""
"0000323482" "0" "50" "13" "108861887" "108861887" "subst" "1.21842E-5" "01804" "LIG4_000016" "g.108861887C>T" "" "" "" "LIG4(NM_001098268.1):c.1730G>A (p.(Arg577His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108209539C>T" "" "VUS" ""
"0000486992" "21" "95" "13" "108863007" "108863007" "del" "0" "03024" "LIG4_000001" "g.108863007del" "" "{PMID:IJspeert 2013:24027040}" "" "" "" "Germline" "" "" "0" "" "" "g.108210659del" "" "pathogenic" ""
"0000486993" "21" "95" "13" "108863007" "108863007" "del" "0" "03025" "LIG4_000001" "g.108863007del" "" "{PMID:IJspeert 2013:24027040}" "" "" "" "Germline" "" "" "0" "" "" "g.108210659del" "" "pathogenic" ""
"0000486994" "0" "95" "13" "108862367" "108862371" "dup" "0" "03025" "LIG4_000008" "g.108862367_108862371dup" "" "" "" "1246_1250dupGATGC" "" "Unknown" "" "" "0" "" "" "g.108210019_108210023dup" "" "pathogenic" ""
"0000486995" "11" "95" "13" "108862343" "108862347" "del" "0" "03025" "LIG4_000004" "g.108862343_108862347del" "" "" "" "1271_1275delAAAGA" "" "Germline" "" "" "0" "" "" "g.108209995_108209999del" "" "pathogenic" ""
"0000486996" "21" "95" "13" "108862343" "108862347" "del" "0" "03025" "LIG4_000004" "g.108862343_108862347del" "" "" "" "1271_1275delAAAGA" "" "Germline" "" "" "0" "" "" "g.108209995_108209999del" "" "pathogenic" ""
"0000486997" "11" "95" "13" "108862343" "108862347" "del" "0" "03025" "LIG4_000004" "g.108862343_108862347del" "" "" "" "1271_1275delAAAGA" "" "Germline" "" "" "0" "" "" "g.108209995_108209999del" "" "pathogenic" ""
"0000486998" "11" "95" "13" "108862343" "108862347" "del" "0" "03025" "LIG4_000004" "g.108862343_108862347del" "" "" "" "1271_1275delAAAGA" "" "Germline" "" "" "0" "" "" "g.108209995_108209999del" "" "pathogenic" ""
"0000486999" "11" "95" "13" "108862343" "108862347" "del" "0" "03025" "LIG4_000004" "g.108862343_108862347del" "" "" "" "1271_1275delAAAGA" "" "Germline" "" "" "0" "" "" "g.108209995_108209999del" "" "pathogenic" ""
"0000487000" "0" "95" "13" "108862111" "108862112" "del" "0" "03025" "LIG4_000007" "g.108862111_108862112del" "" "" "" "1512_1513delTC" "" "Unknown" "" "" "0" "" "" "g.108209763_108209764del" "" "pathogenic" ""
"0000487001" "11" "95" "13" "108861714" "108861714" "del" "0" "03024" "LIG4_000002" "g.108861714del" "" "{PMID:IJspeert 2013:24027040}" "" "" "" "Germline" "" "" "0" "" "" "g.108209366del" "" "pathogenic" ""
"0000487002" "11" "95" "13" "108861714" "108861714" "del" "0" "03025" "LIG4_000002" "g.108861714del" "" "{PMID:IJspeert 2013:24027040}" "" "" "" "Germline" "" "" "0" "" "" "g.108209366del" "" "pathogenic" ""
"0000487003" "10" "95" "13" "108861523" "108861523" "subst" "8.12348E-6" "03025" "LIG4_000005" "g.108861523G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108209175G>C" "" "pathogenic" ""
"0000487004" "11" "95" "13" "108861230" "108861233" "dup" "0" "03025" "LIG4_000006" "g.108861230_108861233dup" "" "" "" "2386_2389dupATTG" "" "Germline" "" "" "0" "" "" "g.108208882_108208885dup" "" "pathogenic" ""
"0000487005" "21" "95" "13" "108861177" "108861177" "subst" "9.75166E-5" "03025" "LIG4_000003" "g.108861177G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108208829G>A" "" "pathogenic" ""
"0000487006" "21" "95" "13" "108861177" "108861177" "subst" "9.75166E-5" "03025" "LIG4_000003" "g.108861177G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108208829G>A" "" "pathogenic" ""
"0000487007" "21" "95" "13" "108861177" "108861177" "subst" "9.75166E-5" "03025" "LIG4_000003" "g.108861177G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108208829G>A" "" "pathogenic" ""
"0000487008" "11" "95" "13" "108861177" "108861177" "subst" "9.75166E-5" "03025" "LIG4_000003" "g.108861177G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108208829G>A" "" "pathogenic" ""
"0000487009" "21" "95" "13" "108861177" "108861177" "subst" "9.75166E-5" "03025" "LIG4_000003" "g.108861177G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108208829G>A" "" "pathogenic" ""
"0000487010" "21" "95" "13" "108861177" "108861177" "subst" "9.75166E-5" "03025" "LIG4_000003" "g.108861177G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108208829G>A" "" "pathogenic" ""
"0000487011" "0" "95" "13" "108861177" "108861177" "subst" "9.75166E-5" "03025" "LIG4_000003" "g.108861177G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.108208829G>A" "" "pathogenic" ""
"0000487012" "0" "95" "13" "108861177" "108861177" "subst" "9.75166E-5" "03025" "LIG4_000003" "g.108861177G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.108208829G>A" "" "pathogenic" ""
"0000487013" "21" "95" "13" "108861177" "108861177" "subst" "9.75166E-5" "03025" "LIG4_000003" "g.108861177G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108208829G>A" "" "pathogenic" ""
"0000549725" "0" "50" "13" "108861092" "108861092" "subst" "0.00110472" "01943" "LIG4_000023" "g.108861092G>T" "" "" "" "LIG4(NM_001098268.1):c.2525C>A (p.(Ala842Asp)), LIG4(NM_002312.3):c.2525C>A (p.A842D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108208744G>T" "" "VUS" ""
"0000549726" "0" "30" "13" "108861092" "108861092" "subst" "0.00110472" "01804" "LIG4_000023" "g.108861092G>T" "" "" "" "LIG4(NM_001098268.1):c.2525C>A (p.(Ala842Asp)), LIG4(NM_002312.3):c.2525C>A (p.A842D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108208744G>T" "" "likely benign" ""
"0000549727" "0" "30" "13" "108861336" "108861336" "subst" "0" "01943" "LIG4_000024" "g.108861336A>G" "" "" "" "LIG4(NM_002312.3):c.2281T>C (p.Y761H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108208988A>G" "" "likely benign" ""
"0000549728" "0" "50" "13" "108861348" "108861348" "subst" "0" "02327" "LIG4_000025" "g.108861348C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108209000C>T" "" "VUS" ""
"0000549730" "0" "30" "13" "108861634" "108861634" "subst" "0.000422483" "01943" "LIG4_000027" "g.108861634A>G" "" "" "" "LIG4(NM_002312.3):c.1983T>C (p.D661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108209286A>G" "" "likely benign" ""
"0000549731" "0" "50" "13" "108861662" "108861662" "subst" "0" "01943" "LIG4_000028" "g.108861662A>C" "" "" "" "LIG4(NM_002312.3):c.1955T>G (p.V652G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108209314A>C" "" "VUS" ""
"0000549732" "0" "30" "13" "108861663" "108861663" "subst" "2.03122E-5" "01943" "LIG4_000029" "g.108861663C>T" "" "" "" "LIG4(NM_001352599.2):c.1954G>A (p.V652I), LIG4(NM_002312.3):c.1954G>A (p.V652I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108209315C>T" "" "likely benign" ""
"0000549733" "0" "30" "13" "108861786" "108861786" "subst" "5.68551E-5" "01804" "LIG4_000030" "g.108861786C>T" "" "" "" "LIG4(NM_001098268.1):c.1831G>A (p.(Ala611Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108209438C>T" "" "likely benign" ""
"0000549734" "0" "90" "13" "108862111" "108862112" "del" "0" "01943" "LIG4_000007" "g.108862111_108862112del" "" "" "" "LIG4(NM_002312.3):c.1512_1513delTC (p.R505Cfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108209763_108209764del" "" "pathogenic" ""
"0000549735" "0" "50" "13" "108862343" "108862347" "del" "0" "01804" "LIG4_000004" "g.108862343_108862347del" "" "" "" "LIG4(NM_001098268.1):c.1271_1275del (p.(Lys424ArgfsTer20)), LIG4(NM_001352599.1):c.1271_1275delAAAGA (p.K424Rfs*20), LIG4(NM_001352599.2):c.1271_12..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108209995_108209999del" "" "VUS" ""
"0000549736" "0" "30" "13" "108862424" "108862424" "subst" "0.000150881" "01804" "LIG4_000031" "g.108862424C>T" "" "" "" "LIG4(NM_001098268.1):c.1193G>A (p.(Gly398Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108210076C>T" "" "likely benign" ""
"0000549737" "0" "10" "13" "108863591" "108863591" "subst" "0.177045" "02325" "LIG4_000032" "g.108863591G>A" "" "" "" "LIG4(NM_002312.3):c.26C>T (p.T9I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108211243G>A" "" "benign" ""
"0000549738" "0" "30" "13" "108863591" "108863591" "subst" "0.177045" "02326" "LIG4_000032" "g.108863591G>A" "" "" "" "LIG4(NM_002312.3):c.26C>T (p.T9I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108211243G>A" "" "likely benign" ""
"0000549739" "0" "10" "13" "108863609" "108863609" "subst" "0.0564154" "02325" "LIG4_000033" "g.108863609G>A" "" "" "" "LIG4(NM_002312.3):c.8C>T (p.A3V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108211261G>A" "" "benign" ""
"0000549740" "0" "30" "13" "108863609" "108863609" "subst" "0.0564154" "02326" "LIG4_000033" "g.108863609G>A" "" "" "" "LIG4(NM_002312.3):c.8C>T (p.A3V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108211261G>A" "" "likely benign" ""
"0000657239" "0" "30" "13" "108861351" "108861351" "subst" "2.44035E-5" "02326" "LIG4_000034" "g.108861351G>T" "" "" "" "LIG4(NM_001352599.2):c.2266C>A (p.R756S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108209003G>T" "" "likely benign" ""
"0000657240" "0" "30" "13" "108862719" "108862719" "subst" "0.000162644" "02326" "LIG4_000035" "g.108862719C>T" "" "" "" "LIG4(NM_001352599.2):c.898G>A (p.D300N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108210371C>T" "" "likely benign" ""
"0000657241" "0" "90" "13" "108863007" "108863007" "del" "0" "02325" "LIG4_000036" "g.108863007del" "" "" "" "LIG4(NM_001352599.2):c.613delT (p.S205Lfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108210659del" "" "pathogenic" ""
"0000679714" "0" "30" "13" "108861663" "108861663" "subst" "2.03122E-5" "02326" "LIG4_000029" "g.108861663C>T" "" "" "" "LIG4(NM_001352599.2):c.1954G>A (p.V652I), LIG4(NM_002312.3):c.1954G>A (p.V652I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000691464" "0" "50" "13" "108861092" "108861092" "subst" "0.00110472" "02325" "LIG4_000023" "g.108861092G>T" "" "" "" "LIG4(NM_001098268.1):c.2525C>A (p.(Ala842Asp)), LIG4(NM_002312.3):c.2525C>A (p.A842D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000691465" "0" "30" "13" "108862905" "108862905" "subst" "0.000102133" "01943" "LIG4_000037" "g.108862905T>C" "" "" "" "LIG4(NM_001352599.1):c.712A>G (p.I238V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000691466" "0" "30" "13" "108863332" "108863332" "subst" "0.000693476" "01804" "LIG4_000038" "g.108863332C>T" "" "" "" "LIG4(NM_001098268.1):c.285G>A (p.(Glu95=)), LIG4(NM_002312.3):c.285G>A (p.E95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000724328" "0" "90" "13" "108862343" "108862347" "del" "0" "02329" "LIG4_000004" "g.108862343_108862347del" "" "" "" "LIG4(NM_001098268.1):c.1271_1275del (p.(Lys424ArgfsTer20)), LIG4(NM_001352599.1):c.1271_1275delAAAGA (p.K424Rfs*20), LIG4(NM_001352599.2):c.1271_12..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000724329" "0" "30" "13" "108863236" "108863236" "subst" "5.69147E-5" "01943" "LIG4_000039" "g.108863236C>G" "" "" "" "LIG4(NM_001352599.1):c.381G>C (p.M127I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000734224" "0" "70" "13" "108863464" "108863465" "del" "0" "04011" "LIG4_000040" "g.108863464_108863465del" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "0" "" "" "g.108211116_108211117del" "" "VUS" ""
"0000734225" "0" "70" "13" "108863467" "108863473" "del" "0" "04011" "LIG4_000041" "g.108863467_108863473del" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "0" "" "" "g.108211119_108211125del" "" "VUS" ""
"0000734482" "0" "70" "13" "108862763" "108862763" "subst" "8.14843E-6" "04011" "LIG4_000043" "g.108862763C>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000735006" "0" "70" "13" "108862343" "108862347" "del" "0" "04011" "LIG4_000004" "g.108862343_108862347del" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "0" "" "" "g.108209995_108209999del" "" "VUS" ""
"0000735091" "0" "70" "13" "108862191" "108862191" "subst" "1.21876E-5" "04011" "LIG4_000042" "g.108862191G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000806007" "0" "90" "13" "108862343" "108862347" "del" "0" "01943" "LIG4_000004" "g.108862343_108862347del" "" "" "" "LIG4(NM_001098268.1):c.1271_1275del (p.(Lys424ArgfsTer20)), LIG4(NM_001352599.1):c.1271_1275delAAAGA (p.K424Rfs*20), LIG4(NM_001352599.2):c.1271_12..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000853573" "0" "30" "13" "108861092" "108861092" "subst" "0.00110472" "02326" "LIG4_000023" "g.108861092G>T" "" "" "" "LIG4(NM_001098268.1):c.2525C>A (p.(Ala842Asp)), LIG4(NM_002312.3):c.2525C>A (p.A842D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853574" "0" "50" "13" "108861601" "108861601" "subst" "0.00013811" "01943" "LIG4_000026" "g.108861601G>C" "" "" "" "LIG4(NM_001352599.1):c.2016C>G (p.S672R), LIG4(NM_002312.3):c.2016C>G (p.S672R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000863177" "0" "30" "13" "108862915" "108862915" "subst" "0" "01943" "LIG4_000044" "g.108862915T>A" "" "" "" "LIG4(NM_001352599.1):c.702A>T (p.G234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890866" "0" "30" "13" "108861601" "108861601" "subst" "0.00013811" "02326" "LIG4_000026" "g.108861601G>C" "" "" "" "LIG4(NM_001352599.1):c.2016C>G (p.S672R), LIG4(NM_002312.3):c.2016C>G (p.S672R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890867" "0" "30" "13" "108862010" "108862010" "subst" "0.000109663" "02326" "LIG4_000045" "g.108862010C>T" "" "" "" "LIG4(NM_002312.3):c.1607G>A (p.S536N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890868" "0" "30" "13" "108862245" "108862245" "subst" "0" "02326" "LIG4_000046" "g.108862245G>A" "" "" "" "LIG4(NM_002312.3):c.1372C>T (p.L458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890869" "0" "30" "13" "108863437" "108863437" "subst" "0.000962176" "02326" "LIG4_000047" "g.108863437G>A" "" "" "" "LIG4(NM_002312.3):c.180C>T (p.V60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913975" "0" "30" "13" "108863332" "108863332" "subst" "0.000693476" "02326" "LIG4_000038" "g.108863332C>T" "" "" "" "LIG4(NM_001098268.1):c.285G>A (p.(Glu95=)), LIG4(NM_002312.3):c.285G>A (p.E95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000920255" "21" "70" "13" "108862276" "108862276" "subst" "1.21892E-5" "00006" "LIG4_000048" "g.108862276C>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.108209928C>A" "" "likely pathogenic" "ACMG"
"0000920342" "11" "90" "13" "108863135" "108863135" "del" "0" "00006" "LIG4_000049" "g.108863135del" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "c.482delC" "" "Germline" "" "" "0" "" "" "g.108210787del" "" "pathogenic" "ACMG"
"0000925715" "0" "30" "13" "108862702" "108862702" "subst" "0.00124374" "02326" "LIG4_000020" "g.108862702A>G" "" "" "" "LIG4(NM_002312.3):c.915T>C (p.S305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930166" "0" "30" "13" "108860919" "108860919" "subst" "4.07249E-6" "02326" "LIG4_000050" "g.108860919T>C" "" "" "" "LIG4(NM_002312.3):c.2698A>G (p.K900E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980542" "0" "70" "13" "108861714" "108861714" "del" "0" "01804" "LIG4_000002" "g.108861714del" "" "" "" "LIG4(NM_206937.2):c.1904del (p.(Lys635Argfs*10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000980543" "0" "50" "13" "108861878" "108861878" "subst" "8.93561E-5" "01804" "LIG4_000051" "g.108861878C>T" "" "" "" "LIG4(NM_206937.2):c.1739G>A (p.(Arg580Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980544" "0" "50" "13" "108861975" "108861975" "subst" "0" "01804" "LIG4_000052" "g.108861975A>G" "" "" "" "LIG4(NM_206937.2):c.1642T>C (p.(Tyr548His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980545" "0" "50" "13" "108862292" "108862292" "subst" "4.06491E-6" "01804" "LIG4_000053" "g.108862292T>C" "" "" "" "LIG4(NM_206937.2):c.1325A>G (p.(Lys442Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980546" "0" "50" "13" "108862644" "108862644" "subst" "0" "01804" "LIG4_000054" "g.108862644T>C" "" "" "" "LIG4(NM_206937.2):c.973A>G (p.(Ile325Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980547" "0" "90" "13" "108863007" "108863007" "del" "0" "02329" "LIG4_000001" "g.108863007del" "" "" "" "LIG4(NM_001352599.2):c.613delT (p.S205Lfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001000405" "0" "90" "13" "108861177" "108861177" "subst" "9.75166E-5" "01804" "LIG4_000003" "g.108861177G>A" "" "" "" "LIG4(NM_002312.3):c.2440C>T (p.(Arg814*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001039556" "0" "50" "13" "108861809" "108861809" "subst" "0" "01804" "LIG4_000055" "g.108861809C>T" "" "" "" "LIG4(NM_206937.2):c.1808G>A (p.(Arg603Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039557" "0" "50" "13" "108861888" "108861888" "subst" "1.62466E-5" "01804" "LIG4_000056" "g.108861888G>A" "" "" "" "LIG4(NM_206937.2):c.1729C>T (p.(Arg577Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039558" "0" "50" "13" "108863324" "108863324" "subst" "1.22783E-5" "01804" "LIG4_000057" "g.108863324T>C" "" "" "" "LIG4(NM_206937.2):c.293A>G (p.(Asn98Ser))" "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 LIG4
## Count = 86
"{{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}}"
"0000170905" "00011127" "90" "2321" "0" "2321" "0" "c.2321T>C" "r.(?)" "p.(Leu774Pro)" ""
"0000170906" "00011127" "90" "2440" "0" "2440" "0" "c.2440C>T" "r.(?)" "p.(Arg814*)" "2"
"0000248663" "00011127" "10" "1704" "0" "1704" "0" "c.1704T>C" "r.(?)" "p.(Asp568=)" ""
"0000253690" "00011127" "10" "915" "0" "915" "0" "c.915T>C" "r.(?)" "p.(Ser305=)" ""
"0000282216" "00011127" "50" "1538" "0" "1538" "0" "c.1538A>G" "r.(?)" "p.(Lys513Arg)" ""
"0000282217" "00011127" "50" "787" "0" "787" "0" "c.787A>G" "r.(?)" "p.(Met263Val)" ""
"0000285977" "00011127" "90" "1298" "0" "1300" "0" "c.1298_1300del" "r.(?)" "p.(Gln433del)" ""
"0000285978" "00011127" "30" "1798" "0" "1798" "0" "c.1798G>A" "r.(?)" "p.(Glu600Lys)" ""
"0000285979" "00011127" "10" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Ala857Thr)" ""
"0000290983" "00011127" "30" "2266" "0" "2266" "0" "c.2266C>T" "r.(?)" "p.(Arg756Cys)" ""
"0000290984" "00011127" "90" "833" "0" "833" "0" "c.833G>A" "r.(?)" "p.(Arg278His)" ""
"0000323482" "00011127" "50" "1730" "0" "1730" "0" "c.1730G>A" "r.(?)" "p.(Arg577His)" ""
"0000486992" "00011127" "95" "613" "0" "613" "0" "c.613del" "r.(?)" "p.(Ser205Leufs*29)" "2"
"0000486993" "00011127" "95" "613" "0" "613" "0" "c.613del" "r.(?)" "p.(Ser205Leufs*29)" "2"
"0000486994" "00011127" "95" "1246" "0" "1250" "0" "c.1246_1250dup" "r.(?)" "p.(Leu418Metfs*3)" "2"
"0000486995" "00011127" "95" "1271" "0" "1275" "0" "c.1271_1275del" "r.(?)" "p.(Lys424Argfs*20)" "2"
"0000486996" "00011127" "95" "1271" "0" "1275" "0" "c.1271_1275del" "r.(?)" "p.(Lys424Argfs*20)" "2"
"0000486997" "00011127" "95" "1271" "0" "1275" "0" "c.1271_1275del" "r.(?)" "p.(Lys424Argfs*20)" "2"
"0000486998" "00011127" "95" "1271" "0" "1275" "0" "c.1271_1275del" "r.(?)" "p.(Lys424Argfs*20)" "2"
"0000486999" "00011127" "95" "1271" "0" "1275" "0" "c.1271_1275del" "r.(?)" "p.(Lys424Argfs*20)" "2"
"0000487000" "00011127" "95" "1512" "0" "1513" "0" "c.1512_1513del" "r.(?)" "p.(Arg505Cysfs*12)" "2"
"0000487001" "00011127" "95" "1904" "0" "1904" "0" "c.1904del" "r.(?)" "p.(Lys635Argfs*10)" "2"
"0000487002" "00011127" "95" "1904" "0" "1904" "0" "c.1904del" "r.(?)" "p.(Lys635Argfs*10)" "2"
"0000487003" "00011127" "95" "2094" "0" "2094" "0" "c.2094C>G" "r.(?)" "p.(Tyr698*)" "2"
"0000487004" "00011127" "95" "2386" "0" "2389" "0" "c.2386_2389dup" "r.(?)" "p.(Ala797Aspfs*3)" "2"
"0000487005" "00011127" "95" "2440" "0" "2440" "0" "c.2440C>T" "r.(?)" "p.(Arg814*)" "2"
"0000487006" "00011127" "95" "2440" "0" "2440" "0" "c.2440C>T" "r.(?)" "p.(Arg814*)" "2"
"0000487007" "00011127" "95" "2440" "0" "2440" "0" "c.2440C>T" "r.(?)" "p.(Arg814*)" "2"
"0000487008" "00011127" "95" "2440" "0" "2440" "0" "c.2440C>T" "r.(?)" "p.(Arg814*)" "2"
"0000487009" "00011127" "95" "2440" "0" "2440" "0" "c.2440C>T" "r.(?)" "p.(Arg814*)" "2"
"0000487010" "00011127" "95" "2440" "0" "2440" "0" "c.2440C>T" "r.(?)" "p.(Arg814*)" "2"
"0000487011" "00011127" "95" "2440" "0" "2440" "0" "c.2440C>T" "r.(?)" "p.(Arg814*)" "2"
"0000487012" "00011127" "95" "2440" "0" "2440" "0" "c.2440C>T" "r.(?)" "p.(Arg814*)" "2"
"0000487013" "00011127" "95" "2440" "0" "2440" "0" "c.2440C>T" "r.(?)" "p.(Arg814*)" "2"
"0000549725" "00011127" "50" "2525" "0" "2525" "0" "c.2525C>A" "r.(?)" "p.(Ala842Asp)" ""
"0000549726" "00011127" "30" "2525" "0" "2525" "0" "c.2525C>A" "r.(?)" "p.(Ala842Asp)" ""
"0000549727" "00011127" "30" "2281" "0" "2281" "0" "c.2281T>C" "r.(?)" "p.(Tyr761His)" ""
"0000549728" "00011127" "50" "2269" "0" "2269" "0" "c.2269G>A" "r.(?)" "p.(Glu757Lys)" ""
"0000549730" "00011127" "30" "1983" "0" "1983" "0" "c.1983T>C" "r.(?)" "p.(Asp661=)" ""
"0000549731" "00011127" "50" "1955" "0" "1955" "0" "c.1955T>G" "r.(?)" "p.(Val652Gly)" ""
"0000549732" "00011127" "30" "1954" "0" "1954" "0" "c.1954G>A" "r.(?)" "p.(Val652Ile)" ""
"0000549733" "00011127" "30" "1831" "0" "1831" "0" "c.1831G>A" "r.(?)" "p.(Ala611Thr)" ""
"0000549734" "00011127" "90" "1512" "0" "1513" "0" "c.1512_1513del" "r.(?)" "p.(Arg505CysfsTer12)" ""
"0000549735" "00011127" "50" "1271" "0" "1275" "0" "c.1271_1275del" "r.(?)" "p.(Lys424ArgfsTer20)" ""
"0000549736" "00011127" "30" "1193" "0" "1193" "0" "c.1193G>A" "r.(?)" "p.(Gly398Asp)" ""
"0000549737" "00011127" "10" "26" "0" "26" "0" "c.26C>T" "r.(?)" "p.(Thr9Ile)" ""
"0000549738" "00011127" "30" "26" "0" "26" "0" "c.26C>T" "r.(?)" "p.(Thr9Ile)" ""
"0000549739" "00011127" "10" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Ala3Val)" ""
"0000549740" "00011127" "30" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Ala3Val)" ""
"0000657239" "00011127" "30" "2266" "0" "2266" "0" "c.2266C>A" "r.(?)" "p.(Arg756Ser)" ""
"0000657240" "00011127" "30" "898" "0" "898" "0" "c.898G>A" "r.(?)" "p.(Asp300Asn)" ""
"0000657241" "00011127" "90" "613" "0" "613" "0" "c.613del" "r.(?)" "p.(Ser205LeufsTer29)" ""
"0000679714" "00011127" "30" "1954" "0" "1954" "0" "c.1954G>A" "r.(?)" "p.(Val652Ile)" ""
"0000691464" "00011127" "50" "2525" "0" "2525" "0" "c.2525C>A" "r.(?)" "p.(Ala842Asp)" ""
"0000691465" "00011127" "30" "712" "0" "712" "0" "c.712A>G" "r.(?)" "p.(Ile238Val)" ""
"0000691466" "00011127" "30" "285" "0" "285" "0" "c.285G>A" "r.(?)" "p.(Glu95=)" ""
"0000724328" "00011127" "90" "1271" "0" "1275" "0" "c.1271_1275del" "r.(?)" "p.(Lys424ArgfsTer20)" ""
"0000724329" "00011127" "30" "381" "0" "381" "0" "c.381G>C" "r.(?)" "p.(Met127Ile)" ""
"0000734224" "00011127" "50" "152" "0" "153" "0" "c.152_153del" "r.(?)" "p.(Asp51Glyfs*4)" ""
"0000734225" "00011127" "50" "144" "0" "150" "0" "c.144_150del" "r.(?)" "p.(Phe49Metfs*18)" ""
"0000734482" "00011127" "50" "854" "0" "854" "0" "c.854G>T" "r.(?)" "p.(Gly285Val)" ""
"0000735006" "00011127" "50" "1271" "0" "1275" "0" "c.1271_1275del" "r.(?)" "p.(Lys424Argfs*20)" ""
"0000735091" "00011127" "50" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Arg476Trp)" ""
"0000806007" "00011127" "90" "1271" "0" "1275" "0" "c.1271_1275del" "r.(?)" "p.(Lys424ArgfsTer20)" ""
"0000853573" "00011127" "30" "2525" "0" "2525" "0" "c.2525C>A" "r.(?)" "p.(Ala842Asp)" ""
"0000853574" "00011127" "50" "2016" "0" "2016" "0" "c.2016C>G" "r.(?)" "p.(Ser672Arg)" ""
"0000863177" "00011127" "30" "702" "0" "702" "0" "c.702A>T" "r.(?)" "p.(Gly234=)" ""
"0000890866" "00011127" "30" "2016" "0" "2016" "0" "c.2016C>G" "r.(?)" "p.(Ser672Arg)" ""
"0000890867" "00011127" "30" "1607" "0" "1607" "0" "c.1607G>A" "r.(?)" "p.(Ser536Asn)" ""
"0000890868" "00011127" "30" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Leu458=)" ""
"0000890869" "00011127" "30" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Val60=)" ""
"0000913975" "00011127" "30" "285" "0" "285" "0" "c.285G>A" "r.(?)" "p.(Glu95=)" ""
"0000920255" "00011127" "70" "1341" "0" "1341" "0" "c.1341G>T" "r.(?)" "p.(Trp447Cys)" "2"
"0000920342" "00011127" "90" "482" "0" "482" "0" "c.482del" "r.(?)" "p.(Ala161ValfsTer6)" "2"
"0000925715" "00011127" "30" "915" "0" "915" "0" "c.915T>C" "r.(?)" "p.(Ser305=)" ""
"0000930166" "00011127" "30" "2698" "0" "2698" "0" "c.2698A>G" "r.(?)" "p.(Lys900Glu)" ""
"0000980542" "00011127" "70" "1904" "0" "1904" "0" "c.1904del" "r.(?)" "p.(Lys635Argfs*10)" ""
"0000980543" "00011127" "50" "1739" "0" "1739" "0" "c.1739G>A" "r.(?)" "p.(Arg580Gln)" ""
"0000980544" "00011127" "50" "1642" "0" "1642" "0" "c.1642T>C" "r.(?)" "p.(Tyr548His)" ""
"0000980545" "00011127" "50" "1325" "0" "1325" "0" "c.1325A>G" "r.(?)" "p.(Lys442Arg)" ""
"0000980546" "00011127" "50" "973" "0" "973" "0" "c.973A>G" "r.(?)" "p.(Ile325Val)" ""
"0000980547" "00011127" "90" "613" "0" "613" "0" "c.613del" "r.(?)" "p.(Ser205LeufsTer29)" ""
"0001000405" "00011127" "90" "2440" "0" "2440" "0" "c.2440C>T" "r.(?)" "p.(Arg814*)" ""
"0001039556" "00011127" "50" "1808" "0" "1808" "0" "c.1808G>A" "r.(?)" "p.(Arg603Lys)" ""
"0001039557" "00011127" "50" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577Cys)" ""
"0001039558" "00011127" "50" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Asn98Ser)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 31
"{{screeningid}}" "{{variantid}}"
"0000105482" "0000170905"
"0000105482" "0000170906"
"0000241175" "0000486992"
"0000241175" "0000487001"
"0000241176" "0000486993"
"0000241176" "0000487002"
"0000241177" "0000486994"
"0000241177" "0000487012"
"0000241178" "0000486995"
"0000241178" "0000487005"
"0000241179" "0000486996"
"0000241179" "0000487008"
"0000241180" "0000486997"
"0000241180" "0000487009"
"0000241181" "0000486998"
"0000241181" "0000487010"
"0000241182" "0000486999"
"0000241182" "0000487013"
"0000241183" "0000487000"
"0000241183" "0000487011"
"0000241184" "0000487003"
"0000241184" "0000487006"
"0000241185" "0000487004"
"0000241185" "0000487007"
"0000335599" "0000734224"
"0000335599" "0000734225"
"0000335720" "0000734482"
"0000336076" "0000735006"
"0000336090" "0000735091"
"0000434498" "0000920255"
"0000434498" "0000920342"