### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KIAA0196)
# 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}}"
"KIAA0196" "KIAA0196" "8" "q24.13" "unknown" "NC_000008.10" "UD_132118547948" "" "http://www.LOVD.nl/KIAA0196" "" "1" "28984" "9897" "610657" "1" "1" "1" "1" "NOTE: gene name changed from KIAA0196 to WASHC5\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/KIAA0196_NM_014846.3_codingDNA.html" "1" "" "NOTE: gene name changed from KIAA0196 to WASHC5" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-04-23 20:55:25" "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}}"
"00010487" "KIAA0196" "KIAA0196" "001" "NM_014846.3" "" "NP_055661.3" "" "" "" "-329" "3837" "3480" "126104061" "126036502" "" "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}}"
"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"
"00217" "SPG8" "paraplegia, spastic, autosomal dominant, type 8 (SPG-8)" "AD" "603563" "" "" "" "00008" "2013-10-02 11:35:03" "00006" "2021-12-10 21:51:32"
"00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43"
"01744" "RTSC1" "Ritscher-Schinzel syndrome 1" "AR" "220210" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02300" "SPG6" "paraplegia, spastic, type 6 (SPG-6)" "AD" "600363" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"KIAA0196" "00217"
"KIAA0196" "01744"
## Individuals ## Do not remove or alter this header ##
## Count = 12
"{{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}}"
"00003017" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "F" "" "" "" "0" "" "" "" "Pat9mov;Pat18"
"00054874" "" "" "" "1" "" "01479" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "M" "" "" "" "0" "" "" "" "Pat24"
"00207934" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" ""
"00294560" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00294561" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00294562" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00294563" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00295993" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00302683" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00361494" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "12DG0705"
"00363503" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "178673"
"00408689" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "no family history" "" "no" "France" "" "0" "" "" "" "Pat45"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 11
"{{individualid}}" "{{diseaseid}}"
"00003017" "00217"
"00054874" "02300"
"00294560" "00198"
"00294561" "00198"
"00294562" "00198"
"00294563" "00198"
"00295993" "00198"
"00302683" "00198"
"00361494" "00139"
"00363503" "00217"
"00408689" "00325"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00217, 00325, 01744, 02300
## Count = 8
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000001868" "00217" "00003017" "00130" "Familial, autosomal dominant" "" "hereditary spastic paraplegia" "15y" "" "" "" "" "" "" "" "SPG8" "hereditary spastic paraplegia" ""
"0000041539" "02300" "00054874" "01479" "Familial, autosomal dominant" "" "pure hereditary spastic paraplegia" "53y" "" "" "" "" "" "" "" "SPG8" "hereditary spastic paraplegia" ""
"0000155706" "00198" "00207934" "01164" "Unknown" "" "HP:0001257 (Spasticity)" "" "" "" "" "" "" "" "" "" "" ""
"0000223460" "00198" "00295993" "01164" "Unknown" "" "Abnormal eye physiology (HP:0012373); Spastic paraparesis (HP:0002313); Abnormal muscle tone (HP:0003808); Glaucoma (HP:0000501)" "" "" "" "" "" "" "" "" "" "" ""
"0000229767" "00198" "00302683" "01164" "Unknown" "" "Abnormality of the shoulder girdle musculature (HP:0001435); Abnormality of the musculature of the upper limbs (HP:0001446); Scapular winging (HP:0003691)" "" "" "" "" "" "" "" "" "" "" ""
"0000256899" "00139" "00361494" "00006" "Isolated (sporadic)" "10y10m" "not syndromic; intellectual disability and seizures" "" "" "" "" "" "" "" "" "" "intellectual disability" ""
"0000258853" "00217" "00363503" "01164" "Unknown" "" "spastic paraparesis" "" "61y" "" "" "" "" "" "" "" "" ""
"0000300807" "00325" "00408689" "00006" "Unknown" "" "" "30y" "" "" "" "" "" "" "" "SPG8" "spastic paraplegia" ""
## Screenings ## Do not remove or alter this header ##
## Count = 12
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000002923" "00003017" "1" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" ""
"0000054826" "00054874" "1" "01479" "01479" "2015-11-30 16:19:25" "" "" "SEQ-NG" "DNA" "" ""
"0000208979" "00207934" "1" "01164" "01164" "2018-12-04 16:33:25" "" "" "SEQ-NG" "DNA" "" ""
"0000295728" "00294560" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000295729" "00294561" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000295730" "00294562" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000295731" "00294563" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000297164" "00295993" "1" "01164" "01164" "2020-04-01 11:00:50" "" "" "SEQ-NG-S" "DNA" "" ""
"0000303809" "00302683" "1" "01164" "01164" "2020-05-29 15:07:01" "" "" "SEQ-NG-S" "DNA" "" ""
"0000362722" "00361494" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel"
"0000364731" "00363503" "1" "01164" "01164" "2021-04-29 09:21:12" "" "" "SEQ-NG-I" "DNA" "" ""
"0000409951" "00408689" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}" "{{geneid}}"
"0000002923" "KIAA0196"
"0000054826" "KIAA0196"
"0000362722" "KIAA0196"
"0000364731" "KIAA0196"
## 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 = 131
"{{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}}"
"0000021297" "1" "70" "8" "126049557" "126049557" "subst" "4.47522E-5" "00130" "KIAA0196_000001" "g.126049557G>A" "" "{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "" "Unknown" "?" "" "0" "" "" "g.125037315G>A" "" "likely pathogenic" ""
"0000084843" "0" "50" "8" "126095440" "126095440" "subst" "0" "01479" "KIAA0196_000002" "g.126095440C>T" "" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "" "Germline" "" "" "0" "" "" "g.125083198C>T" "" "VUS" ""
"0000254218" "0" "30" "8" "126073381" "126073381" "subst" "0" "01943" "KIAA0196_000017" "g.126073381A>G" "" "" "" "WASHC5(NM_014846.3):c.1464T>C (p.Y488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125061139A>G" "" "likely benign" ""
"0000254475" "0" "30" "8" "126051091" "126051091" "subst" "3.65681E-5" "01943" "KIAA0196_000006" "g.126051091A>G" "" "" "" "KIAA0196(NM_014846.3):c.3065T>C (p.I1022T), WASHC5(NM_014846.4):c.3065T>C (p.I1022T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125038849A>G" "" "likely benign" ""
"0000256053" "0" "50" "8" "126087343" "126087343" "subst" "4.06732E-6" "01943" "KIAA0196_000048" "g.126087343A>G" "" "" "" "KIAA0196(NM_014846.3):c.875T>C (p.I292T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125075101A>G" "" "VUS" ""
"0000281776" "0" "30" "8" "126079939" "126079939" "subst" "0" "02325" "KIAA0196_000022" "g.126079939G>T" "" "" "" "WASHC5(NM_014846.4):c.1173C>A (p.R391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125067697G>T" "" "likely benign" ""
"0000281778" "0" "10" "8" "126085586" "126085586" "subst" "0.242049" "02325" "KIAA0196_000023" "g.126085586G>A" "" "" "" "WASHC5(NM_014846.4):c.979-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125073344G>A" "" "benign" ""
"0000285788" "0" "10" "8" "126075757" "126075757" "subst" "0.00673699" "02326" "KIAA0196_000018" "g.126075757T>C" "" "" "" "WASHC5(NM_014846.4):c.1408+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125063515T>C" "" "benign" ""
"0000285789" "0" "30" "8" "126091044" "126091044" "subst" "0.00110509" "02326" "KIAA0196_000030" "g.126091044G>A" "" "" "" "KIAA0196(NM_014846.3):c.647C>T (p.P216L, p.(Pro216Leu)), WASHC5(NM_014846.4):c.647C>T (p.P216L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125078802G>A" "" "likely benign" ""
"0000290168" "0" "50" "8" "126079895" "126079895" "subst" "0.000109655" "01943" "KIAA0196_000020" "g.126079895T>C" "" "" "" "KIAA0196(NM_014846.3):c.1217A>G (p.N406S, p.(Asn406Ser)), WASHC5(NM_014846.4):c.1217A>G (p.N406S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125067653T>C" "" "VUS" ""
"0000290169" "0" "30" "8" "126075842" "126075842" "subst" "3.65616E-5" "01943" "KIAA0196_000019" "g.126075842T>C" "" "" "" "KIAA0196(NM_014846.3):c.1330A>G (p.K444E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125063600T>C" "" "likely benign" ""
"0000290170" "0" "30" "8" "126071701" "126071701" "subst" "0.000314152" "01943" "KIAA0196_000016" "g.126071701G>A" "" "" "" "KIAA0196(NM_014846.3):c.1605C>T (p.I535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125059459G>A" "" "likely benign" ""
"0000290171" "0" "30" "8" "126069894" "126069894" "subst" "2.85183E-5" "01943" "KIAA0196_000015" "g.126069894G>A" "" "" "" "KIAA0196(NM_014846.3):c.1779C>T (p.L593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125057652G>A" "" "likely benign" ""
"0000290172" "0" "10" "8" "126062905" "126062905" "subst" "0.000935142" "01943" "KIAA0196_000014" "g.126062905C>T" "" "" "" "WASHC5(NM_014846.3):c.2100G>A (p.V700=), WASHC5(NM_014846.4):c.2100G>A (p.(Val700=), p.V700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125050663C>T" "" "benign" ""
"0000290173" "0" "30" "8" "126062801" "126062801" "subst" "0.000316901" "01943" "KIAA0196_000013" "g.126062801G>C" "" "" "" "KIAA0196(NM_014846.3):c.2199+5C>G, WASHC5(NM_014846.4):c.2199+5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125050559G>C" "" "likely benign" ""
"0000290174" "0" "30" "8" "126059468" "126059468" "subst" "0.000316996" "01943" "KIAA0196_000012" "g.126059468G>A" "" "" "" "KIAA0196(NM_014846.3):c.2485C>T (p.L829=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125047226G>A" "" "likely benign" ""
"0000290175" "0" "50" "8" "126095422" "126095422" "subst" "1.62848E-5" "01943" "KIAA0196_000034" "g.126095422T>C" "" "" "" "KIAA0196(NM_014846.3):c.265A>G (p.I89V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125083180T>C" "" "VUS" ""
"0000290176" "0" "50" "8" "126056120" "126056120" "subst" "2.03227E-5" "01943" "KIAA0196_000008" "g.126056120C>T" "" "" "" "KIAA0196(NM_014846.3):c.2797G>A (p.A933T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125043878C>T" "" "VUS" ""
"0000290177" "0" "50" "8" "126052083" "126052083" "subst" "1.62743E-5" "01943" "KIAA0196_000007" "g.126052083G>A" "" "" "" "KIAA0196(NM_014846.3):c.2908C>T (p.R970W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125039841G>A" "" "VUS" ""
"0000290178" "0" "30" "8" "126049515" "126049515" "subst" "3.25285E-5" "01943" "KIAA0196_000004" "g.126049515C>T" "" "" "" "KIAA0196(NM_014846.3):c.3145G>A (p.A1049T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125037273C>T" "" "likely benign" ""
"0000290179" "0" "30" "8" "126095371" "126095371" "subst" "0.000589244" "01943" "KIAA0196_000033" "g.126095371T>C" "" "" "" "KIAA0196(NM_014846.3):c.316A>G (p.I106V), WASHC5(NM_014846.4):c.316A>G (p.(Ile106Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125083129T>C" "" "likely benign" ""
"0000290180" "0" "30" "8" "126040884" "126040884" "subst" "2.4392E-5" "01943" "KIAA0196_000003" "g.126040884C>T" "" "" "" "KIAA0196(NM_014846.3):c.3401G>A (p.R1134Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125028642C>T" "" "likely benign" ""
"0000290181" "0" "30" "8" "126093897" "126093897" "subst" "0" "01943" "KIAA0196_000032" "g.126093897G>A" "" "" "" "KIAA0196(NM_014846.3):c.518+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125081655G>A" "" "likely benign" ""
"0000290182" "0" "30" "8" "126091139" "126091139" "subst" "8.12612E-5" "01943" "KIAA0196_000031" "g.126091139G>A" "" "" "" "KIAA0196(NM_014846.3):c.552C>T (p.D184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125078897G>A" "" "likely benign" ""
"0000290183" "0" "30" "8" "126091025" "126091025" "subst" "8.12665E-6" "01943" "KIAA0196_000029" "g.126091025G>A" "" "" "" "KIAA0196(NM_014846.3):c.666C>T (p.I222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125078783G>A" "" "likely benign" ""
"0000290184" "0" "50" "8" "126090997" "126090997" "subst" "0" "01943" "KIAA0196_000028" "g.126090997C>G" "" "" "" "KIAA0196(NM_014846.3):c.694G>C (p.D232H), WASHC5(NM_014846.4):c.694G>C (p.D232H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125078755C>G" "" "VUS" ""
"0000290185" "0" "50" "8" "126088708" "126088708" "subst" "0" "01943" "KIAA0196_000027" "g.126088708G>A" "" "" "" "KIAA0196(NM_014846.3):c.746C>T (p.T249I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125076466G>A" "" "VUS" ""
"0000290186" "0" "30" "8" "126087351" "126087351" "subst" "0.00115141" "01943" "KIAA0196_000025" "g.126087351T>G" "" "" "" "KIAA0196(NM_014846.3):c.867A>C (p.V289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125075109T>G" "" "likely benign" ""
"0000332304" "0" "50" "8" "126056252" "126056252" "subst" "2.03115E-5" "01804" "KIAA0196_000010" "g.126056252G>A" "" "" "" "KIAA0196(NM_014846.3):c.2752C>T (p.(Pro918Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125044010G>A" "" "VUS" ""
"0000332305" "0" "30" "8" "126056801" "126056801" "subst" "9.34747E-5" "01804" "KIAA0196_000011" "g.126056801A>C" "" "" "" "KIAA0196(NM_014846.3):c.2644T>G (p.(Phe882Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125044559A>C" "" "likely benign" ""
"0000332308" "0" "50" "8" "126087273" "126087273" "subst" "0" "01804" "KIAA0196_000024" "g.126087273A>C" "" "" "" "KIAA0196(NM_014846.3):c.945T>G (p.(Asn315Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125075031A>C" "" "VUS" ""
"0000332309" "0" "50" "8" "126088676" "126088676" "subst" "4.47198E-5" "01804" "KIAA0196_000026" "g.126088676C>T" "" "" "" "KIAA0196(NM_014846.3):c.778G>A (p.V260M, p.(Val260Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125076434C>T" "" "VUS" ""
"0000337078" "0" "30" "8" "126056215" "126056216" "ins" "0.999931" "02327" "KIAA0196_000037" "g.126056215_126056216insC" "" "" "" "WASHC5(NM_014846.4):c.2770+18_2770+19insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125043973_125043974insC" "" "likely benign" ""
"0000337079" "0" "10" "8" "126071452" "126071452" "subst" "0.0646062" "02327" "KIAA0196_000039" "g.126071452T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125059210T>C" "" "benign" ""
"0000337080" "0" "10" "8" "126075757" "126075757" "subst" "0.00673699" "02327" "KIAA0196_000018" "g.126075757T>C" "" "" "" "WASHC5(NM_014846.4):c.1408+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125063515T>C" "" "benign" ""
"0000337081" "0" "10" "8" "126079969" "126079969" "subst" "0.00671416" "02327" "KIAA0196_000041" "g.126079969C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125067727C>T" "" "benign" ""
"0000337082" "0" "10" "8" "126085586" "126085586" "subst" "0.242049" "02327" "KIAA0196_000023" "g.126085586G>A" "" "" "" "WASHC5(NM_014846.4):c.979-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125073344G>A" "" "benign" ""
"0000337084" "0" "10" "8" "126094614" "126094614" "subst" "0.0689008" "02327" "KIAA0196_000043" "g.126094614T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125082372T>C" "" "benign" ""
"0000337085" "0" "10" "8" "126094728" "126094728" "subst" "0.06869" "02327" "KIAA0196_000044" "g.126094728T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125082486T>C" "" "benign" ""
"0000337086" "0" "10" "8" "126095503" "126095503" "subst" "0.069284" "02327" "KIAA0196_000045" "g.126095503G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125083261G>A" "" "benign" ""
"0000337087" "0" "10" "8" "126096274" "126096274" "subst" "0" "02327" "KIAA0196_000047" "g.126096274C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125084032C>A" "" "benign" ""
"0000339350" "0" "10" "8" "126044527" "126044527" "subst" "0.0603984" "02327" "KIAA0196_000036" "g.126044527C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125032285C>T" "" "benign" ""
"0000339351" "0" "10" "8" "126079867" "126079867" "subst" "0.00672679" "02327" "KIAA0196_000040" "g.126079867T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125067625T>C" "" "benign" ""
"0000339352" "0" "10" "8" "126091094" "126091094" "subst" "0.0425796" "02327" "KIAA0196_000042" "g.126091094T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125078852T>C" "" "benign" ""
"0000344867" "0" "50" "8" "126095998" "126095998" "subst" "4.06891E-6" "02327" "KIAA0196_000046" "g.126095998T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125083756T>C" "" "VUS" ""
"0000346224" "0" "90" "8" "126067843" "126067843" "subst" "0" "02327" "KIAA0196_000038" "g.126067843C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125055601C>G" "" "pathogenic" ""
"0000439042" "0" "50" "8" "126059527" "126059527" "subst" "2.03174E-5" "01164" "KIAA0196_000049" "g.126059527G>C" "" "" "" "" "ACMG grading: PM2,PP3" "Germline" "" "rs747787888" "0" "" "" "g.125047285G>C" "" "VUS" "ACMG"
"0000533740" "0" "30" "8" "126040901" "126040901" "subst" "1.21961E-5" "01943" "KIAA0196_000050" "g.126040901G>T" "" "" "" "KIAA0196(NM_014846.3):c.3384C>A (p.F1128L), WASHC5(NM_014846.4):c.3384C>A (p.F1128L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125028659G>T" "" "likely benign" ""
"0000533742" "0" "50" "8" "126052040" "126052040" "subst" "1.62647E-5" "01943" "KIAA0196_000052" "g.126052040T>C" "" "" "" "KIAA0196(NM_014846.3):c.2951A>G (p.N984S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125039798T>C" "" "VUS" ""
"0000533743" "0" "10" "8" "126056215" "126056216" "ins" "0.999931" "02325" "KIAA0196_000037" "g.126056215_126056216insC" "" "" "" "WASHC5(NM_014846.4):c.2770+18_2770+19insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125043973_125043974insC" "" "benign" ""
"0000533744" "0" "30" "8" "126056913" "126056913" "subst" "4.06544E-6" "01943" "KIAA0196_000053" "g.126056913G>A" "" "" "" "KIAA0196(NM_014846.3):c.2532C>T (p.N844=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125044671G>A" "" "likely benign" ""
"0000533745" "0" "30" "8" "126059517" "126059517" "subst" "8.12757E-6" "01943" "KIAA0196_000054" "g.126059517G>A" "" "" "" "KIAA0196(NM_014846.3):c.2436C>T (p.T812=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125047275G>A" "" "likely benign" ""
"0000533746" "0" "50" "8" "126067830" "126067830" "subst" "2.03163E-5" "01943" "KIAA0196_000055" "g.126067830T>C" "" "" "" "KIAA0196(NM_014846.3):c.2097+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125055588T>C" "" "VUS" ""
"0000533747" "0" "30" "8" "126071609" "126071609" "del" "0" "01943" "KIAA0196_000056" "g.126071609del" "" "" "" "KIAA0196(NM_014846.3):c.1688+10delG, WASHC5(NM_014846.4):c.1688+10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125059367del" "" "likely benign" ""
"0000533748" "0" "50" "8" "126071780" "126071780" "subst" "4.13572E-6" "01804" "KIAA0196_000057" "g.126071780T>C" "" "" "" "KIAA0196(NM_014846.3):c.1526A>G (p.(Gln509Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125059538T>C" "" "VUS" ""
"0000533749" "0" "50" "8" "126075826" "126075826" "subst" "0.00121472" "01943" "KIAA0196_000058" "g.126075826C>T" "" "" "" "KIAA0196(NM_014846.3):c.1346G>A (p.R449Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125063584C>T" "" "VUS" ""
"0000533750" "0" "30" "8" "126085555" "126085555" "subst" "4.06947E-5" "01943" "KIAA0196_000059" "g.126085555A>G" "" "" "" "KIAA0196(NM_014846.3):c.990T>C (p.Y330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125073313A>G" "" "likely benign" ""
"0000533751" "0" "50" "8" "126088676" "126088676" "subst" "4.47198E-5" "01943" "KIAA0196_000026" "g.126088676C>T" "" "" "" "KIAA0196(NM_014846.3):c.778G>A (p.V260M, p.(Val260Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125076434C>T" "" "VUS" ""
"0000533752" "0" "50" "8" "126088722" "126088722" "subst" "0.00117478" "01943" "KIAA0196_000060" "g.126088722C>T" "" "" "" "KIAA0196(NM_014846.3):c.732G>A (p.P244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125076480C>T" "" "VUS" ""
"0000533753" "0" "50" "8" "126091044" "126091044" "subst" "0.00110509" "01943" "KIAA0196_000030" "g.126091044G>A" "" "" "" "KIAA0196(NM_014846.3):c.647C>T (p.P216L, p.(Pro216Leu)), WASHC5(NM_014846.4):c.647C>T (p.P216L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125078802G>A" "" "VUS" ""
"0000533754" "0" "30" "8" "126091044" "126091044" "subst" "0.00110509" "01804" "KIAA0196_000030" "g.126091044G>A" "" "" "" "KIAA0196(NM_014846.3):c.647C>T (p.P216L, p.(Pro216Leu)), WASHC5(NM_014846.4):c.647C>T (p.P216L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125078802G>A" "" "likely benign" ""
"0000533755" "0" "30" "8" "126091074" "126091074" "subst" "0.000710983" "01943" "KIAA0196_000061" "g.126091074T>C" "" "" "" "KIAA0196(NM_014846.3):c.617A>G (p.N206S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125078832T>C" "" "likely benign" ""
"0000533756" "0" "50" "8" "126091083" "126091083" "subst" "2.4376E-5" "01943" "KIAA0196_000062" "g.126091083C>G" "" "" "" "KIAA0196(NM_014846.3):c.608G>C (p.R203T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125078841C>G" "" "VUS" ""
"0000533757" "0" "50" "8" "126094647" "126094647" "subst" "4.06765E-6" "01943" "KIAA0196_000063" "g.126094647T>C" "" "" "" "KIAA0196(NM_014846.3):c.395A>G (p.N132S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125082405T>C" "" "VUS" ""
"0000611431" "0" "30" "8" "126044499" "126044499" "subst" "0.00415742" "01804" "KIAA0196_000064" "g.126044499C>T" "" "" "" "KIAA0196(NM_014846.3):c.3319G>A (p.(Val1107Met)), WASHC5(NM_014846.4):c.3319G>A (p.V1107M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125032257C>T" "" "likely benign" ""
"0000611432" "0" "50" "8" "126059465" "126059465" "subst" "8.12916E-6" "02327" "KIAA0196_000065" "g.126059465G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125047223G>A" "" "VUS" ""
"0000611433" "0" "30" "8" "126059496" "126059496" "subst" "1.21917E-5" "01943" "KIAA0196_000066" "g.126059496C>T" "" "" "" "KIAA0196(NM_014846.3):c.2457G>A (p.T819=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125047254C>T" "" "likely benign" ""
"0000611434" "0" "50" "8" "126062856" "126062856" "subst" "4.06243E-6" "02326" "KIAA0196_000068" "g.126062856G>A" "" "" "" "WASHC5(NM_014846.4):c.2149C>T (p.R717C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125050614G>A" "" "VUS" ""
"0000611435" "0" "50" "8" "126079895" "126079895" "subst" "0.000109655" "02326" "KIAA0196_000020" "g.126079895T>C" "" "" "" "KIAA0196(NM_014846.3):c.1217A>G (p.N406S, p.(Asn406Ser)), WASHC5(NM_014846.4):c.1217A>G (p.N406S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125067653T>C" "" "VUS" ""
"0000611436" "0" "50" "8" "126090997" "126090997" "subst" "0" "02326" "KIAA0196_000028" "g.126090997C>G" "" "" "" "KIAA0196(NM_014846.3):c.694G>C (p.D232H), WASHC5(NM_014846.4):c.694G>C (p.D232H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125078755C>G" "" "VUS" ""
"0000621992" "0" "70" "8" "126049557" "126049557" "subst" "4.47522E-5" "02325" "KIAA0196_000001" "g.126049557G>A" "" "" "" "WASHC5(NM_014846.4):c.3103C>T (p.R1035C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125037315G>A" "" "likely pathogenic" ""
"0000621993" "0" "50" "8" "126061286" "126061286" "subst" "0" "02325" "KIAA0196_000067" "g.126061286T>A" "" "" "" "WASHC5(NM_014846.4):c.2341A>T (p.N781Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125049044T>A" "" "VUS" ""
"0000621994" "0" "90" "8" "126068927" "126068927" "subst" "4.06369E-6" "01943" "KIAA0196_000069" "g.126068927G>A" "" "" "" "WASHC5(NM_014846.3):c.2008C>T (p.R670*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125056685G>A" "" "pathogenic" ""
"0000652417" "1" "50" "8" "126056870" "126056870" "subst" "0.000109699" "03575" "KIAA0196_000070" "g.126056870G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs202015963}" "Germline" "" "rs202015963" "0" "" "" "g.125044628G>A" "" "VUS" ""
"0000652418" "1" "70" "8" "126071637" "126071637" "subst" "1.21923E-5" "03575" "KIAA0196_000071" "g.126071637C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs749056160}" "Germline" "" "rs749056160" "0" "" "" "g.125059395C>T" "" "likely pathogenic" ""
"0000652419" "1" "50" "8" "126079934" "126079934" "subst" "0.000166508" "03575" "KIAA0196_000021" "g.126079934C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs151298198}" "Germline" "" "rs151298198" "0" "" "" "g.125067692C>T" "" "VUS" ""
"0000652420" "1" "30" "8" "126103910" "126103910" "subst" "0" "03575" "KIAA0196_000072" "g.126103910A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs370705310}" "Germline" "" "rs370705310" "0" "" "" "g.125091668A>G" "" "likely benign" ""
"0000655988" "0" "50" "8" "126088591" "126088591" "subst" "0" "02325" "KIAA0196_000073" "g.126088591C>G" "" "" "" "WASHC5(NM_014846.4):c.863G>C (p.W288S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125076349C>G" "" "VUS" ""
"0000655989" "0" "50" "8" "126094630" "126094630" "subst" "0" "02325" "KIAA0196_000074" "g.126094630G>A" "" "" "" "WASHC5(NM_014846.4):c.412C>T (p.L138F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125082388G>A" "" "VUS" ""
"0000659789" "0" "50" "8" "126067830" "126067830" "subst" "2.03163E-5" "01164" "KIAA0196_000055" "g.126067830T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.125055588T>C" "" "VUS" "ACMG"
"0000667205" "0" "70" "8" "126059514" "126059515" "del" "0" "01164" "KIAA0196_000075" "g.126059514_126059515del" "" "" "" "" "ACMG grading: PS2,PM2" "Germline" "" "" "0" "" "" "g.125047272_125047273del" "" "likely pathogenic" "ACMG"
"0000678284" "0" "30" "8" "126069843" "126069843" "subst" "8.13431E-5" "01943" "KIAA0196_000076" "g.126069843G>A" "" "" "" "WASHC5(NM_014846.3):c.1830C>T (p.S610=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000678286" "0" "30" "8" "126091052" "126091052" "subst" "0.000186876" "01943" "KIAA0196_000077" "g.126091052C>G" "" "" "" "WASHC5(NM_014846.3):c.639G>C (p.Q213H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000690158" "0" "50" "8" "126040901" "126040901" "subst" "1.21961E-5" "02325" "KIAA0196_000050" "g.126040901G>T" "" "" "" "KIAA0196(NM_014846.3):c.3384C>A (p.F1128L), WASHC5(NM_014846.4):c.3384C>A (p.F1128L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000690159" "0" "30" "8" "126044499" "126044499" "subst" "0.00415742" "02326" "KIAA0196_000064" "g.126044499C>T" "" "" "" "KIAA0196(NM_014846.3):c.3319G>A (p.(Val1107Met)), WASHC5(NM_014846.4):c.3319G>A (p.V1107M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000690160" "0" "50" "8" "126044613" "126044613" "subst" "1.22016E-5" "01943" "KIAA0196_000078" "g.126044613C>T" "" "" "" "WASHC5(NM_014846.3):c.3205G>A (p.D1069N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000690161" "0" "30" "8" "126049585" "126049585" "subst" "4.07691E-6" "01943" "KIAA0196_000079" "g.126049585G>A" "" "" "" "WASHC5(NM_014846.3):c.3085-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000721782" "0" "50" "8" "126044618" "126044618" "subst" "2.8474E-5" "01943" "KIAA0196_000080" "g.126044618G>A" "" "" "" "WASHC5(NM_014846.3):c.3200C>T (p.P1067L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000721783" "0" "50" "8" "126049557" "126049557" "subst" "4.47522E-5" "02327" "KIAA0196_000001" "g.126049557G>A" "" "" "" "WASHC5(NM_014846.4):c.3103C>T (p.R1035C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000721784" "0" "90" "8" "126052096" "126052100" "del" "0" "01943" "KIAA0196_000081" "g.126052096_126052100del" "" "" "" "WASHC5(NM_014846.3):c.2896_2900delAATTA (p.N966Ffs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000721785" "0" "30" "8" "126069855" "126069855" "subst" "0.000349787" "01943" "KIAA0196_000082" "g.126069855G>A" "" "" "" "WASHC5(NM_014846.3):c.1818C>T (p.P606=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000721786" "0" "30" "8" "126093970" "126093970" "subst" "4.47384E-5" "01943" "KIAA0196_000083" "g.126093970G>A" "" "" "" "WASHC5(NM_014846.3):c.451C>T (p.L151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000721787" "0" "30" "8" "126094012" "126094012" "subst" "0.000285421" "01943" "KIAA0196_000084" "g.126094012A>C" "" "" "" "WASHC5(NM_014846.3):c.418-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000763096" "1" "70" "8" "126071637" "126071637" "subst" "1.21923E-5" "00006" "KIAA0196_000071" "g.126071637C>T" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.125059395C>T" "" "likely pathogenic" "ACMG"
"0000765635" "0" "50" "8" "126059527" "126059527" "subst" "2.03174E-5" "01164" "KIAA0196_000049" "g.126059527G>C" "" "" "" "" "ACMG: PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG"
"0000803438" "0" "50" "8" "126052108" "126052108" "subst" "0" "02329" "KIAA0196_000085" "g.126052108A>C" "" "" "" "WASHC5(NM_014846.4):c.2883T>G (p.I961M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803439" "0" "30" "8" "126056082" "126056082" "subst" "1.21952E-5" "01943" "KIAA0196_000086" "g.126056082G>A" "" "" "" "WASHC5(NM_014846.3):c.2835C>T (p.L945=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000803440" "0" "30" "8" "126061295" "126061295" "subst" "0.000117874" "01943" "KIAA0196_000087" "g.126061295T>C" "" "" "" "WASHC5(NM_014846.3):c.2332A>G (p.I778V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000803441" "0" "50" "8" "126095385" "126095385" "subst" "0" "01943" "KIAA0196_000088" "g.126095385C>A" "" "" "" "WASHC5(NM_014846.3):c.302G>T (p.S101I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803442" "0" "50" "8" "126095409" "126095409" "subst" "0" "01943" "KIAA0196_000089" "g.126095409G>A" "" "" "" "WASHC5(NM_014846.3):c.278C>T (p.T93I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000847167" "0" "90" "8" "126069902" "126069902" "subst" "0" "00006" "KIAA0196_000090" "g.126069902A>G" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.125057660A>G" "" "pathogenic" ""
"0000861057" "0" "30" "8" "126044542" "126044542" "subst" "3.25277E-5" "01943" "KIAA0196_000091" "g.126044542G>A" "" "" "" "WASHC5(NM_014846.3):c.3276C>T (p.T1092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000888143" "0" "50" "8" "126051091" "126051091" "subst" "3.65681E-5" "02325" "KIAA0196_000006" "g.126051091A>G" "" "" "" "KIAA0196(NM_014846.3):c.3065T>C (p.I1022T), WASHC5(NM_014846.4):c.3065T>C (p.I1022T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000888144" "0" "50" "8" "126085538" "126085538" "subst" "0.000130164" "02325" "KIAA0196_000092" "g.126085538C>G" "" "" "" "WASHC5(NM_014846.4):c.1007G>C (p.R336T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000888145" "0" "50" "8" "126088676" "126088676" "subst" "0" "02327" "KIAA0196_000093" "g.126088676C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000888146" "0" "50" "8" "126091044" "126091044" "subst" "0.00110509" "02325" "KIAA0196_000030" "g.126091044G>A" "" "" "" "KIAA0196(NM_014846.3):c.647C>T (p.P216L, p.(Pro216Leu)), WASHC5(NM_014846.4):c.647C>T (p.P216L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000912873" "0" "50" "8" "126061406" "126061406" "subst" "4.06316E-6" "02327" "KIAA0196_000094" "g.126061406G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000924821" "0" "30" "8" "126062801" "126062801" "subst" "0.000316901" "02325" "KIAA0196_000013" "g.126062801G>C" "" "" "" "KIAA0196(NM_014846.3):c.2199+5C>G, WASHC5(NM_014846.4):c.2199+5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949018" "0" "70" "8" "126051130" "126051130" "dup" "0" "02325" "KIAA0196_000095" "g.126051130dup" "" "" "" "WASHC5(NM_014846.4):c.3029dupT (p.L1010Ffs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000949019" "0" "50" "8" "126071664" "126071664" "subst" "2.84726E-5" "02325" "KIAA0196_000096" "g.126071664T>C" "" "" "" "WASHC5(NM_014846.4):c.1642A>G (p.M548V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000949020" "0" "50" "8" "126091090" "126091090" "subst" "4.06237E-6" "02327" "KIAA0196_000097" "g.126091090C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000964821" "0" "50" "8" "126079939" "126079941" "del" "0" "02325" "KIAA0196_000098" "g.126079939_126079941del" "" "" "" "WASHC5(NM_014846.4):c.1172_1174delGCC (p.R391del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000978030" "0" "70" "8" "126052055" "126052055" "del" "0" "01804" "KIAA0196_000099" "g.126052055del" "" "" "" "WASHC5(NM_014846.4):c.2936del (p.(Ala979ValfsTer10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000978031" "0" "50" "8" "126061301" "126061301" "subst" "4.06402E-6" "01804" "KIAA0196_000100" "g.126061301G>A" "" "" "" "WASHC5(NM_014846.4):c.2326C>T (p.(Arg776Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000978032" "0" "30" "8" "126062905" "126062905" "subst" "0.000935142" "01804" "KIAA0196_000014" "g.126062905C>T" "" "" "" "WASHC5(NM_014846.3):c.2100G>A (p.V700=), WASHC5(NM_014846.4):c.2100G>A (p.(Val700=), p.V700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000978033" "0" "10" "8" "126062905" "126062905" "subst" "0.000935142" "02326" "KIAA0196_000014" "g.126062905C>T" "" "" "" "WASHC5(NM_014846.3):c.2100G>A (p.V700=), WASHC5(NM_014846.4):c.2100G>A (p.(Val700=), p.V700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000978034" "0" "30" "8" "126068967" "126068967" "subst" "0.000129986" "01804" "KIAA0196_000101" "g.126068967C>T" "" "" "" "WASHC5(NM_014846.4):c.1968G>A (p.(Leu656=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000978035" "0" "10" "8" "126079925" "126079925" "subst" "0.000763483" "02325" "KIAA0196_000102" "g.126079925T>C" "" "" "" "WASHC5(NM_014846.4):c.1187A>G (p.K396R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000978036" "0" "50" "8" "126087346" "126087346" "subst" "1.2205E-5" "01804" "KIAA0196_000103" "g.126087346C>T" "" "" "" "WASHC5(NM_014846.4):c.872G>A (p.(Ser291Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000978037" "0" "30" "8" "126091066" "126091066" "subst" "4.06309E-5" "01804" "KIAA0196_000104" "g.126091066C>T" "" "" "" "WASHC5(NM_014846.4):c.625G>A (p.(Glu209Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000978038" "0" "50" "8" "126093984" "126093984" "subst" "0" "01804" "KIAA0196_000105" "g.126093984T>C" "" "" "" "WASHC5(NM_014846.4):c.437A>G (p.(Tyr146Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000978039" "0" "30" "8" "126095371" "126095371" "subst" "0.000589244" "01804" "KIAA0196_000033" "g.126095371T>C" "" "" "" "KIAA0196(NM_014846.3):c.316A>G (p.I106V), WASHC5(NM_014846.4):c.316A>G (p.(Ile106Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000996922" "0" "50" "8" "126052129" "126052129" "dup" "0" "01804" "KIAA0196_000106" "g.126052129dup" "" "" "" "KIAA0196(NM_014846.3):c.2862dupG (p.(Gln955fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000996923" "0" "50" "8" "126056113" "126056113" "subst" "0" "01804" "KIAA0196_000107" "g.126056113G>T" "" "" "" "KIAA0196(NM_014846.3):c.2804C>A (p.(Ala935Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000996924" "0" "50" "8" "126079895" "126079895" "subst" "0.000109655" "01804" "KIAA0196_000020" "g.126079895T>C" "" "" "" "KIAA0196(NM_014846.3):c.1217A>G (p.N406S, p.(Asn406Ser)), WASHC5(NM_014846.4):c.1217A>G (p.N406S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001014404" "0" "50" "8" "126052108" "126052108" "subst" "0" "02325" "KIAA0196_000085" "g.126052108A>C" "" "" "" "WASHC5(NM_014846.4):c.2883T>G (p.I961M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001014405" "0" "50" "8" "126091077" "126091077" "subst" "0" "02325" "KIAA0196_000108" "g.126091077G>A" "" "" "" "WASHC5(NM_014846.4):c.614C>T (p.S205F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001036728" "0" "50" "8" "126062806" "126062806" "subst" "1.21883E-5" "01804" "KIAA0196_000109" "g.126062806C>T" "" "" "" "WASHC5(NM_014846.4):c.2199G>A (p.(Lys733=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001036729" "0" "30" "8" "126071609" "126071609" "del" "0" "01804" "KIAA0196_000056" "g.126071609del" "" "" "" "KIAA0196(NM_014846.3):c.1688+10delG, WASHC5(NM_014846.4):c.1688+10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001036730" "0" "30" "8" "126088580" "126088580" "subst" "0" "01804" "KIAA0196_000110" "g.126088580C>T" "" "" "" "WASHC5(NM_014846.4):c.864+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001036731" "0" "30" "8" "126095514" "126095514" "dup" "0" "01804" "KIAA0196_000111" "g.126095514dup" "" "" "" "WASHC5(NM_014846.4):c.187-6dup" "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 KIAA0196
## Count = 131
"{{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}}"
"0000021297" "00010487" "70" "3103" "0" "3103" "0" "c.3103C>T" "r.(?)" "p.(Arg1035Cys)" "-"
"0000084843" "00010487" "50" "247" "0" "247" "0" "c.247G>A" "r.spl?" "p.?" "3"
"0000254218" "00010487" "30" "1464" "0" "1464" "0" "c.1464T>C" "r.(?)" "p.(Tyr488=)" ""
"0000254475" "00010487" "30" "3065" "0" "3065" "0" "c.3065T>C" "r.(?)" "p.(Ile1022Thr)" ""
"0000256053" "00010487" "50" "875" "0" "875" "0" "c.875T>C" "r.(?)" "p.(Ile292Thr)" ""
"0000281776" "00010487" "30" "1173" "0" "1173" "0" "c.1173C>A" "r.(?)" "p.(Arg391=)" ""
"0000281778" "00010487" "10" "979" "-20" "979" "-20" "c.979-20C>T" "r.(=)" "p.(=)" ""
"0000285788" "00010487" "10" "1408" "7" "1408" "7" "c.1408+7A>G" "r.(=)" "p.(=)" ""
"0000285789" "00010487" "30" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" ""
"0000290168" "00010487" "50" "1217" "0" "1217" "0" "c.1217A>G" "r.(?)" "p.(Asn406Ser)" ""
"0000290169" "00010487" "30" "1330" "0" "1330" "0" "c.1330A>G" "r.(?)" "p.(Lys444Glu)" ""
"0000290170" "00010487" "30" "1605" "0" "1605" "0" "c.1605C>T" "r.(?)" "p.(Ile535=)" ""
"0000290171" "00010487" "30" "1779" "0" "1779" "0" "c.1779C>T" "r.(?)" "p.(Leu593=)" ""
"0000290172" "00010487" "10" "2100" "0" "2100" "0" "c.2100G>A" "r.(?)" "p.(Val700=)" ""
"0000290173" "00010487" "30" "2199" "5" "2199" "5" "c.2199+5C>G" "r.spl?" "p.?" ""
"0000290174" "00010487" "30" "2485" "0" "2485" "0" "c.2485C>T" "r.(?)" "p.(Leu829=)" ""
"0000290175" "00010487" "50" "265" "0" "265" "0" "c.265A>G" "r.(?)" "p.(Ile89Val)" ""
"0000290176" "00010487" "50" "2797" "0" "2797" "0" "c.2797G>A" "r.(?)" "p.(Ala933Thr)" ""
"0000290177" "00010487" "50" "2908" "0" "2908" "0" "c.2908C>T" "r.(?)" "p.(Arg970Trp)" ""
"0000290178" "00010487" "30" "3145" "0" "3145" "0" "c.3145G>A" "r.(?)" "p.(Ala1049Thr)" ""
"0000290179" "00010487" "30" "316" "0" "316" "0" "c.316A>G" "r.(?)" "p.(Ile106Val)" ""
"0000290180" "00010487" "30" "3401" "0" "3401" "0" "c.3401G>A" "r.(?)" "p.(Arg1134Gln)" ""
"0000290181" "00010487" "30" "518" "6" "518" "6" "c.518+6C>T" "r.(=)" "p.(=)" ""
"0000290182" "00010487" "30" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Asp184=)" ""
"0000290183" "00010487" "30" "666" "0" "666" "0" "c.666C>T" "r.(?)" "p.(Ile222=)" ""
"0000290184" "00010487" "50" "694" "0" "694" "0" "c.694G>C" "r.(?)" "p.(Asp232His)" ""
"0000290185" "00010487" "50" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Thr249Ile)" ""
"0000290186" "00010487" "30" "867" "0" "867" "0" "c.867A>C" "r.(?)" "p.(Val289=)" ""
"0000332304" "00010487" "50" "2752" "0" "2752" "0" "c.2752C>T" "r.(?)" "p.(Pro918Ser)" ""
"0000332305" "00010487" "30" "2644" "0" "2644" "0" "c.2644T>G" "r.(?)" "p.(Phe882Val)" ""
"0000332308" "00010487" "50" "945" "0" "945" "0" "c.945T>G" "r.(?)" "p.(Asn315Lys)" ""
"0000332309" "00010487" "50" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Val260Met)" ""
"0000337078" "00010487" "30" "2770" "18" "2770" "19" "c.2770+18_2770+19insG" "r.(=)" "p.(=)" ""
"0000337079" "00010487" "10" "1764" "12" "1764" "12" "c.1764+12A>G" "r.(=)" "p.(=)" ""
"0000337080" "00010487" "10" "1408" "7" "1408" "7" "c.1408+7A>G" "r.(=)" "p.(=)" ""
"0000337081" "00010487" "10" "1151" "-8" "1151" "-8" "c.1151-8G>A" "r.(=)" "p.(=)" ""
"0000337082" "00010487" "10" "979" "-20" "979" "-20" "c.979-20C>T" "r.(=)" "p.(=)" ""
"0000337084" "00010487" "10" "417" "11" "417" "11" "c.417+11A>G" "r.(=)" "p.(=)" ""
"0000337085" "00010487" "10" "333" "-19" "333" "-19" "c.333-19A>G" "r.(=)" "p.(=)" ""
"0000337086" "00010487" "10" "187" "-3" "187" "-3" "c.187-3C>T" "r.spl?" "p.?" ""
"0000337087" "00010487" "10" "-124" "-10" "-124" "-10" "c.-124-10G>T" "r.(=)" "p.(=)" ""
"0000339350" "00010487" "10" "3291" "0" "3291" "0" "c.3291G>A" "r.(?)" "p.(Ala1097=)" ""
"0000339351" "00010487" "10" "1245" "0" "1245" "0" "c.1245A>G" "r.(?)" "p.(Leu415=)" ""
"0000339352" "00010487" "10" "597" "0" "597" "0" "c.597A>G" "r.(?)" "p.(Pro199=)" ""
"0000344867" "00010487" "50" "143" "0" "143" "0" "c.143A>G" "r.(?)" "p.(Gln48Arg)" ""
"0000346224" "00010487" "90" "2087" "0" "2087" "0" "c.2087G>C" "r.(?)" "p.(Gly696Ala)" ""
"0000439042" "00010487" "50" "2426" "0" "2426" "0" "c.2426C>G" "r.(?)" "p.Pro809Arg" ""
"0000533740" "00010487" "30" "3384" "0" "3384" "0" "c.3384C>A" "r.(?)" "p.(Phe1128Leu)" ""
"0000533742" "00010487" "50" "2951" "0" "2951" "0" "c.2951A>G" "r.(?)" "p.(Asn984Ser)" ""
"0000533743" "00010487" "10" "2770" "18" "2770" "19" "c.2770+18_2770+19insG" "r.(=)" "p.(=)" ""
"0000533744" "00010487" "30" "2532" "0" "2532" "0" "c.2532C>T" "r.(?)" "p.(Asn844=)" ""
"0000533745" "00010487" "30" "2436" "0" "2436" "0" "c.2436C>T" "r.(?)" "p.(Thr812=)" ""
"0000533746" "00010487" "50" "2097" "3" "2097" "3" "c.2097+3A>G" "r.spl?" "p.?" ""
"0000533747" "00010487" "30" "1688" "10" "1688" "10" "c.1688+10del" "r.(=)" "p.(=)" ""
"0000533748" "00010487" "50" "1526" "0" "1526" "0" "c.1526A>G" "r.(?)" "p.(Gln509Arg)" ""
"0000533749" "00010487" "50" "1346" "0" "1346" "0" "c.1346G>A" "r.(?)" "p.(Arg449Gln)" ""
"0000533750" "00010487" "30" "990" "0" "990" "0" "c.990T>C" "r.(?)" "p.(Tyr330=)" ""
"0000533751" "00010487" "50" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Val260Met)" ""
"0000533752" "00010487" "50" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.(Pro244=)" ""
"0000533753" "00010487" "50" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" ""
"0000533754" "00010487" "30" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" ""
"0000533755" "00010487" "30" "617" "0" "617" "0" "c.617A>G" "r.(?)" "p.(Asn206Ser)" ""
"0000533756" "00010487" "50" "608" "0" "608" "0" "c.608G>C" "r.(?)" "p.(Arg203Thr)" ""
"0000533757" "00010487" "50" "395" "0" "395" "0" "c.395A>G" "r.(?)" "p.(Asn132Ser)" ""
"0000611431" "00010487" "30" "3319" "0" "3319" "0" "c.3319G>A" "r.(?)" "p.(Val1107Met)" ""
"0000611432" "00010487" "50" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" ""
"0000611433" "00010487" "30" "2457" "0" "2457" "0" "c.2457G>A" "r.(?)" "p.(Thr819=)" ""
"0000611434" "00010487" "50" "2149" "0" "2149" "0" "c.2149C>T" "r.(?)" "p.(Arg717Cys)" ""
"0000611435" "00010487" "50" "1217" "0" "1217" "0" "c.1217A>G" "r.(?)" "p.(Asn406Ser)" ""
"0000611436" "00010487" "50" "694" "0" "694" "0" "c.694G>C" "r.(?)" "p.(Asp232His)" ""
"0000621992" "00010487" "70" "3103" "0" "3103" "0" "c.3103C>T" "r.(?)" "p.(Arg1035Cys)" ""
"0000621993" "00010487" "50" "2341" "0" "2341" "0" "c.2341A>T" "r.(?)" "p.(Asn781Tyr)" ""
"0000621994" "00010487" "90" "2008" "0" "2008" "0" "c.2008C>T" "r.(?)" "p.(Arg670Ter)" ""
"0000652417" "00010487" "50" "2575" "0" "2575" "0" "c.2575C>T" "r.(?)" "p.(Arg859Cys)" ""
"0000652418" "00010487" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Ala557Thr)" ""
"0000652419" "00010487" "50" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393His)" ""
"0000652420" "00010487" "30" "-178" "0" "-178" "0" "c.-178T>C" "r.(=)" "p.(=)" ""
"0000655988" "00010487" "50" "863" "0" "863" "0" "c.863G>C" "r.(?)" "p.(Trp288Ser)" ""
"0000655989" "00010487" "50" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Leu138Phe)" ""
"0000659789" "00010487" "50" "2097" "3" "2097" "3" "c.2097+3A>G" "r.(?)" "p.(?)" ""
"0000667205" "00010487" "70" "2438" "0" "2439" "0" "c.2438_2439del" "r.(?)" "p.(Pro813Argfs*3)" ""
"0000678284" "00010487" "30" "1830" "0" "1830" "0" "c.1830C>T" "r.(?)" "p.(Ser610=)" ""
"0000678286" "00010487" "30" "639" "0" "639" "0" "c.639G>C" "r.(?)" "p.(Gln213His)" ""
"0000690158" "00010487" "50" "3384" "0" "3384" "0" "c.3384C>A" "r.(?)" "p.(Phe1128Leu)" ""
"0000690159" "00010487" "30" "3319" "0" "3319" "0" "c.3319G>A" "r.(?)" "p.(Val1107Met)" ""
"0000690160" "00010487" "50" "3205" "0" "3205" "0" "c.3205G>A" "r.(?)" "p.(Asp1069Asn)" ""
"0000690161" "00010487" "30" "3085" "-10" "3085" "-10" "c.3085-10C>T" "r.(=)" "p.(=)" ""
"0000721782" "00010487" "50" "3200" "0" "3200" "0" "c.3200C>T" "r.(?)" "p.(Pro1067Leu)" ""
"0000721783" "00010487" "50" "3103" "0" "3103" "0" "c.3103C>T" "r.(?)" "p.(Arg1035Cys)" ""
"0000721784" "00010487" "90" "2896" "0" "2900" "0" "c.2896_2900del" "r.(?)" "p.(Asn966Phefs*5)" ""
"0000721785" "00010487" "30" "1818" "0" "1818" "0" "c.1818C>T" "r.(?)" "p.(Pro606=)" ""
"0000721786" "00010487" "30" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Leu151=)" ""
"0000721787" "00010487" "30" "418" "-9" "418" "-9" "c.418-9T>G" "r.(=)" "p.(=)" ""
"0000763096" "00010487" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Ala557Thr)" ""
"0000765635" "00010487" "50" "2426" "0" "2426" "0" "c.2426C>G" "r.(?)" "p.(Pro809Arg)" ""
"0000803438" "00010487" "50" "2883" "0" "2883" "0" "c.2883T>G" "r.(?)" "p.(Ile961Met)" ""
"0000803439" "00010487" "30" "2835" "0" "2835" "0" "c.2835C>T" "r.(?)" "p.(Leu945=)" ""
"0000803440" "00010487" "30" "2332" "0" "2332" "0" "c.2332A>G" "r.(?)" "p.(Ile778Val)" ""
"0000803441" "00010487" "50" "302" "0" "302" "0" "c.302G>T" "r.(?)" "p.(Ser101Ile)" ""
"0000803442" "00010487" "50" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Thr93Ile)" ""
"0000847167" "00010487" "90" "1771" "0" "1771" "0" "c.1771T>C" "r.(?)" "p.(Ser591Pro)" ""
"0000861057" "00010487" "30" "3276" "0" "3276" "0" "c.3276C>T" "r.(?)" "p.(Thr1092=)" ""
"0000888143" "00010487" "50" "3065" "0" "3065" "0" "c.3065T>C" "r.(?)" "p.(Ile1022Thr)" ""
"0000888144" "00010487" "50" "1007" "0" "1007" "0" "c.1007G>C" "r.(?)" "p.(Arg336Thr)" ""
"0000888145" "00010487" "50" "778" "0" "778" "0" "c.778G>T" "r.(?)" "p.(Val260Leu)" ""
"0000888146" "00010487" "50" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" ""
"0000912873" "00010487" "50" "2221" "0" "2221" "0" "c.2221C>G" "r.(?)" "p.(Leu741Val)" ""
"0000924821" "00010487" "30" "2199" "5" "2199" "5" "c.2199+5C>G" "r.spl?" "p.?" ""
"0000949018" "00010487" "70" "3029" "0" "3029" "0" "c.3029dup" "r.(?)" "p.(Leu1010Phefs*3)" ""
"0000949019" "00010487" "50" "1642" "0" "1642" "0" "c.1642A>G" "r.(?)" "p.(Met548Val)" ""
"0000949020" "00010487" "50" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Ala201Thr)" ""
"0000964821" "00010487" "50" "1172" "0" "1174" "0" "c.1172_1174del" "r.(?)" "p.(Arg391del)" ""
"0000978030" "00010487" "70" "2936" "0" "2936" "0" "c.2936del" "r.(?)" "p.(Ala979Valfs*10)" ""
"0000978031" "00010487" "50" "2326" "0" "2326" "0" "c.2326C>T" "r.(?)" "p.(Arg776Cys)" ""
"0000978032" "00010487" "30" "2100" "0" "2100" "0" "c.2100G>A" "r.(?)" "p.(Val700=)" ""
"0000978033" "00010487" "10" "2100" "0" "2100" "0" "c.2100G>A" "r.(?)" "p.(Val700=)" ""
"0000978034" "00010487" "30" "1968" "0" "1968" "0" "c.1968G>A" "r.(?)" "p.(=)" ""
"0000978035" "00010487" "10" "1187" "0" "1187" "0" "c.1187A>G" "r.(?)" "p.(Lys396Arg)" ""
"0000978036" "00010487" "50" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Ser291Asn)" ""
"0000978037" "00010487" "30" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" ""
"0000978038" "00010487" "50" "437" "0" "437" "0" "c.437A>G" "r.(?)" "p.(Tyr146Cys)" ""
"0000978039" "00010487" "30" "316" "0" "316" "0" "c.316A>G" "r.(?)" "p.(Ile106Val)" ""
"0000996922" "00010487" "50" "2862" "0" "2862" "0" "c.2862dup" "r.(?)" "p.(Gln955Alafs*10)" ""
"0000996923" "00010487" "50" "2804" "0" "2804" "0" "c.2804C>A" "r.(?)" "p.(Ala935Asp)" ""
"0000996924" "00010487" "50" "1217" "0" "1217" "0" "c.1217A>G" "r.(?)" "p.(Asn406Ser)" ""
"0001014404" "00010487" "50" "2883" "0" "2883" "0" "c.2883T>G" "r.(?)" "p.(Ile961Met)" ""
"0001014405" "00010487" "50" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Ser205Phe)" ""
"0001036728" "00010487" "50" "2199" "0" "2199" "0" "c.2199G>A" "r.(?)" "p.(=)" ""
"0001036729" "00010487" "30" "1688" "10" "1688" "10" "c.1688+10del" "r.(=)" "p.(=)" ""
"0001036730" "00010487" "30" "864" "10" "864" "10" "c.864+10G>A" "r.(=)" "p.(=)" ""
"0001036731" "00010487" "30" "187" "-6" "187" "-6" "c.187-6dup" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 12
"{{screeningid}}" "{{variantid}}"
"0000002923" "0000021297"
"0000054826" "0000084843"
"0000208979" "0000439042"
"0000295728" "0000652417"
"0000295729" "0000652418"
"0000295730" "0000652419"
"0000295731" "0000652420"
"0000297164" "0000659789"
"0000303809" "0000667205"
"0000362722" "0000763096"
"0000364731" "0000765635"
"0000409951" "0000847167"