### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RTTN) # 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}}" "RTTN" "rotatin" "18" "q22.1" "unknown" "NG_033104.1" "UD_132378714913" "" "http://www.LOVD.nl/RTTN" "" "1" "18654" "25914" "610436" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/RTTN_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-01-22 06:18:57" "00000" "2025-11-01 13:22:20" ## 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}}" "00018301" "RTTN" "rotatin" "001" "NM_173630.3" "" "NP_775901.3" "" "" "" "-68" "7028" "6681" "67872962" "67671040" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03741" "PMGYS" "Polymicrogyria with seizures (PMGYS)" "AR" "614833" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RTTN" "03741" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00050538" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050568" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00057251" "" "" "" "2" "" "01494" "{PMID:Rump 2016:26846091}" "" "F" "-" "Netherlands" "" "0" "" "" "" "" "00150137" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB5129" "00291997" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291998" "" "" "" "41" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291999" "" "" "" "204" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292000" "" "" "" "54" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292001" "" "" "" "30" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292002" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292003" "" "" "" "199" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292004" "" "" "" "23" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292005" "" "" "" "143" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304635" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304636" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304637" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304638" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00416847" "" "" "" "1" "" "00000" "{PMID:Rump 2016:26846091}" "sibling of patient 9" "F" "" "" "" "0" "" "" "" "8" "00416848" "" "" "" "1" "" "00000" "{PMID:Rump 2016:26846091}" "sibling of patient 8" "F" "" "" "" "0" "" "" "" "9" "00433358" "" "" "" "1" "" "00006" "{PMID:Duerinckx 2021: 34402213}" "patient" "F" "yes" "Morocco" "" "0" "" "" "" "Pat27" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00050538" "00198" "00050568" "00198" "00057251" "03741" "00150137" "00198" "00291997" "00198" "00291998" "00198" "00291999" "00198" "00292000" "00198" "00292001" "00198" "00292002" "00198" "00292003" "00198" "00292004" "00198" "00292005" "00198" "00304635" "00198" "00304636" "00198" "00304637" "00198" "00304638" "00198" "00416847" "03741" "00416848" "03741" "00433358" "05421" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03741, 05421 ## Count = 7 "{{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}}" "0000037150" "00198" "00050538" "00006" "Isolated (sporadic)" "" "microcephaly, muscular hypotonia, short philtrum, upslanted palpebral fissure" "" "" "" "" "" "" "" "" "" "" "" "0000037180" "00198" "00050568" "00006" "Isolated (sporadic)" "" "microcephaly, delayed speech and language development, abnormality of toe, prominent nasal bridge, 2-3 toe syndactyly, overlapping toe, abnormality of skin pigmentation, pectus excavatum" "" "" "" "" "" "" "" "" "" "" "" "0000044550" "03741" "00057251" "01494" "Familial, autosomal recessive" "" "Microcephaly HP:0000252" "" "" "" "" "" "" "" "" "" "" "" "0000122539" "00198" "00150137" "00006" "Familial, autosomal recessive" "" "intellectual diability, microcephaly, pachygyria, symmetrical polymicrogyria, seizures, cataract" "" "" "" "" "" "" "" "" "" "" "" "0000308357" "03741" "00416847" "00000" "Familial, autosomal recessive" "5y" "brain magnetic resonance imaging: diffuse pachygyria; additional clinical featuresshort stature, moderate intellectual disability, bilateral metatarsus primus varus" "" "" "" "" "" "" "" "" "Polymicrogyria with seizures [MIM 614833]" "" "" "0000308358" "03741" "00416848" "00000" "Familial, autosomal recessive" "10y" "brain magnetic resonance imaging: mild frontal lissencephaly, posterior frontal pachygyria and parieto-occipital subcortical band heterotopia; additional clinical featuresshort stature, tetralogy of fallot, embryotoxon posterior, moderate intellectual disability (sister of patient 8)" "" "" "" "" "" "" "" "" "Polymicrogyria with seizures [MIM 614833]" "" "" "0000323879" "05421" "00433358" "00006" "Familial, autosomal recessive" "5y" "primary microcephaly, short stature, spastic quadriparesia; birth OFC (SD-4.5), weigth (SD-2), length (SD-3); OFC (SD-11), weigth (SD-5), length (SD-5); no epilepsy; DQ30 (dvpmt age 6m at age 1y9m), no speech; MRI micro‐lissencephaly, agenesis corpus callosum; birth OFC (SD-4.5), weigth (SD-2), length (SD-3); OFC (SD-11), weigth (SD-5), length (SD-5); no epilepsy; DQ30 (dvpmt age 6m at age 1y9m), no speech; MRI micro‐lissencephaly, agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050483" "00050538" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050513" "00050568" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000057213" "00057251" "1" "01494" "01494" "2016-01-21 13:24:21" "" "" "SEQ-NG-I" "DNA" "DNA isolated form blood" "" "0000150992" "00150137" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000293165" "00291997" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293166" "00291998" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293167" "00291999" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293168" "00292000" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293169" "00292001" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293170" "00292002" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293171" "00292003" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293172" "00292004" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293173" "00292005" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305764" "00304635" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305765" "00304636" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305766" "00304637" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305767" "00304638" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000418129" "00416847" "1" "00000" "03840" "2022-09-08 10:25:47" "" "" "arraySNP;SEQ-NG-I;SEQ" "DNA" "" "" "0000418130" "00416848" "1" "00000" "03840" "2022-09-08 10:25:47" "" "" "arraySNP;SEQ-NG-I;SEQ" "DNA" "" "" "0000434812" "00433358" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000050513" "RTTN" "0000150992" "RTTN" "0000418129" "RTTN" "0000418130" "RTTN" ## 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 = 179 "{{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}}" "0000079493" "11" "90" "18" "67684696" "67684696" "subst" "0" "00006" "RTTN_000001" "g.67684696A>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.70017460A>G" "" "pathogenic" "" "0000079672" "0" "90" "18" "48362664" "78015180" "del" "0" "00006" "ATP8B1_000025" "g.48362664_78015180del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, hemizygous in 0.46 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000079678" "21" "90" "18" "67691994" "67691994" "subst" "0" "00006" "RTTN_000002" "g.67691994G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.70024758G>A" "" "pathogenic" "" "0000087505" "11" "70" "18" "67807412" "67807412" "subst" "4.13798E-6" "01494" "RTTN_000004" "g.67807412T>C" "2/38 (2 sisters in patient cohort)" "{PMID:Rump 2016:26846091}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70140176T>C" "" "likely pathogenic" "" "0000087506" "21" "70" "18" "67755343" "67755343" "del" "0" "01494" "RTTN_000003" "g.67755343del" "2/38 (2 sisters in patient cohort)" "{PMID:Rump 2016:26846091}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70088107del" "" "likely pathogenic" "" "0000244148" "3" "90" "18" "67802509" "67802509" "subst" "0" "00006" "RTTN_000005" "g.67802509T>A" "" "{PMID:Karaca 2015:26539891}" "" "NM_173630: c.A2796T; p.L932F" "" "Germline" "" "" "0" "" "" "g.70135273T>A" "" "pathogenic" "" "0000248760" "0" "10" "18" "67718688" "67718688" "subst" "0.926975" "02325" "RTTN_000019" "g.67718688A>G" "" "" "" "RTTN(NM_173630.4):c.5282T>C (p.F1761S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70051452A>G" "" "benign" "" "0000248894" "0" "10" "18" "67871343" "67871343" "subst" "0.874629" "02325" "RTTN_000070" "g.67871343A>C" "" "" "" "RTTN(NM_173630.4):c.376T>G (p.S126A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70204107A>C" "" "benign" "" "0000253623" "0" "10" "18" "67727176" "67727176" "subst" "0.00370169" "01943" "RTTN_000027" "g.67727176A>G" "" "" "" "RTTN(NM_173630.3):c.4850T>C (p.M1617T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70059940A>G" "" "benign" "" "0000253688" "0" "10" "18" "67718770" "67718770" "subst" "4.99775E-5" "01943" "RTTN_000022" "g.67718770A>C" "" "" "" "RTTN(NM_173630.3):c.5200T>G (p.S1734A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70051534A>C" "" "benign" "" "0000253928" "0" "10" "18" "67721340" "67721340" "subst" "0.000995918" "01943" "RTTN_000023" "g.67721340A>G" "" "" "" "RTTN(NM_173630.3):c.5185+27T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70054104A>G" "" "benign" "" "0000253930" "0" "10" "18" "67809647" "67809647" "del" "0" "01943" "RTTN_000047" "g.67809647del" "" "" "" "RTTN(NM_173630.3):c.2482-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70142411del" "" "benign" "" "0000253931" "0" "10" "18" "67863893" "67863893" "subst" "0.00134587" "01943" "RTTN_000063" "g.67863893A>C" "" "" "" "RTTN(NM_173630.3):c.694-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70196657A>C" "" "benign" "" "0000253932" "0" "10" "18" "67871511" "67871511" "subst" "0.00552046" "01943" "RTTN_000074" "g.67871511A>G" "" "" "" "RTTN(NM_173630.3):c.220-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70204275A>G" "" "benign" "" "0000253933" "0" "10" "18" "67872913" "67872913" "subst" "0.0102194" "01943" "RTTN_000082" "g.67872913A>C" "" "" "" "RTTN(NM_173630.3):c.-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70205677A>C" "" "benign" "" "0000254397" "0" "30" "18" "67869162" "67869162" "subst" "0.000109787" "01943" "RTTN_000069" "g.67869162A>C" "" "" "" "RTTN(NM_173630.3):c.455T>G (p.F152C), RTTN(NM_173630.4):c.455T>G (p.F152C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70201926A>C" "" "likely benign" "" "0000255322" "0" "30" "18" "67671480" "67671480" "subst" "0.000138485" "01943" "RTTN_000007" "g.67671480A>T" "" "" "" "RTTN(NM_173630.3):c.6596-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70004244A>T" "" "likely benign" "" "0000256737" "0" "50" "18" "67687842" "67687842" "subst" "0" "01943" "RTTN_000009" "g.67687842A>C" "" "" "" "RTTN(NM_173630.3):c.6153+9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70020606A>C" "" "VUS" "" "0000301517" "0" "90" "18" "67869157" "67869157" "subst" "0" "02326" "RTTN_000068" "g.67869157G>A" "" "" "" "RTTN(NM_173630.4):c.460C>T (p.Q154*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70201921G>A" "" "pathogenic" "" "0000307435" "0" "10" "18" "67857959" "67857959" "subst" "0.0120792" "01943" "RTTN_000056" "g.67857959C>A" "" "" "" "RTTN(NM_173630.3):c.1008-4G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70190723C>A" "" "benign" "" "0000307436" "0" "10" "18" "67843929" "67843929" "subst" "0.000685709" "01943" "RTTN_000055" "g.67843929C>T" "" "" "" "RTTN(NM_173630.3):c.1458G>A (p.T486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70176693C>T" "" "benign" "" "0000307437" "0" "10" "18" "67872430" "67872430" "subst" "1.62456E-5" "01943" "RTTN_000076" "g.67872430T>C" "" "" "" "RTTN(NM_173630.3):c.153A>G (p.E51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70205194T>C" "" "benign" "" "0000307438" "0" "50" "18" "67836115" "67836115" "subst" "0.0156827" "01943" "RTTN_000054" "g.67836115G>T" "" "" "" "RTTN(NM_173630.3):c.1665C>A (p.N555K, p.(Asn555Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70168879G>T" "" "VUS" "" "0000307439" "0" "10" "18" "67834126" "67834126" "subst" "3.79024E-5" "01943" "RTTN_000053" "g.67834126C>T" "" "" "" "RTTN(NM_173630.3):c.1802+29G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70166890C>T" "" "benign" "" "0000307440" "0" "10" "18" "67872400" "67872400" "subst" "0.00137277" "01943" "RTTN_000075" "g.67872400C>T" "" "" "" "RTTN(NM_173630.3):c.183G>A (p.K61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70205164C>T" "" "benign" "" "0000307441" "0" "30" "18" "67833385" "67833385" "subst" "0.0157889" "01943" "RTTN_000052" "g.67833385T>C" "" "" "" "RTTN(NM_173630.3):c.1842A>G (p.E614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70166149T>C" "" "likely benign" "" "0000307442" "0" "30" "18" "67833306" "67833306" "subst" "0.00680236" "01943" "RTTN_000051" "g.67833306T>C" "" "" "" "RTTN(NM_173630.3):c.1921A>G (p.I641V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70166070T>C" "" "likely benign" "" "0000307443" "0" "50" "18" "67816191" "67816191" "subst" "0.000602336" "01943" "RTTN_000050" "g.67816191G>A" "" "" "" "RTTN(NM_173630.3):c.2255C>T (p.P752L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70148955G>A" "" "VUS" "" "0000307444" "0" "10" "18" "67816125" "67816125" "subst" "0.00465988" "01943" "RTTN_000049" "g.67816125C>T" "" "" "" "RTTN(NM_173630.3):c.2309+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70148889C>T" "" "benign" "" "0000307445" "0" "30" "18" "67812989" "67812989" "subst" "0" "01943" "RTTN_000048" "g.67812989T>A" "" "" "" "RTTN(NM_173630.3):c.2340A>T (p.A780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70145753T>A" "" "likely benign" "" "0000307446" "0" "30" "18" "67807396" "67807396" "subst" "0" "01943" "RTTN_000046" "g.67807396C>T" "" "" "" "RTTN(NM_173630.3):c.2610G>A (p.K870=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70140160C>T" "" "likely benign" "" "0000307447" "0" "70" "18" "67802509" "67802509" "subst" "0" "01943" "RTTN_000005" "g.67802509T>A" "" "" "" "RTTN(NM_173630.3):c.2796A>T (p.L932F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70135273T>A" "" "likely pathogenic" "" "0000307448" "0" "50" "18" "67802501" "67802501" "subst" "0.00148867" "01943" "RTTN_000045" "g.67802501T>C" "" "" "" "RTTN(NM_173630.3):c.2804A>G (p.H935R), RTTN(NM_173630.4):c.2804A>G (p.H935R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70135265T>C" "" "VUS" "" "0000307449" "0" "30" "18" "67802484" "67802484" "subst" "0.000301849" "01943" "RTTN_000044" "g.67802484C>G" "" "" "" "RTTN(NM_173630.3):c.2821G>C (p.V941L), RTTN(NM_173630.4):c.2821G>C (p.(Val941Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70135248C>G" "" "likely benign" "" "0000307450" "0" "30" "18" "67871437" "67871437" "subst" "0.000653935" "01943" "RTTN_000072" "g.67871437C>A" "" "" "" "RTTN(NM_173630.3):c.282G>T (p.R94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70204201C>A" "" "likely benign" "" "0000307451" "0" "30" "18" "67802449" "67802449" "subst" "0.0215948" "01943" "RTTN_000043" "g.67802449T>C" "" "" "" "RTTN(NM_173630.3):c.2856A>G (p.L952=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70135213T>C" "" "likely benign" "" "0000307452" "0" "10" "18" "67801786" "67801786" "subst" "0.0170528" "01943" "RTTN_000042" "g.67801786T>C" "" "" "" "RTTN(NM_173630.3):c.2886-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70134550T>C" "" "benign" "" "0000307453" "0" "30" "18" "67872846" "67872846" "subst" "0.000260139" "01943" "RTTN_000080" "g.67872846G>A" "" "" "" "RTTN(NM_173630.3):c.31+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70205610G>A" "" "likely benign" "" "0000307454" "0" "90" "18" "67872863" "67872863" "subst" "0" "01943" "RTTN_000081" "g.67872863C>A" "" "" "" "RTTN(NM_173630.3):c.31+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70205627C>A" "" "pathogenic" "" "0000307455" "0" "50" "18" "67794954" "67794954" "subst" "0" "01943" "RTTN_000041" "g.67794954G>A" "" "" "" "RTTN(NM_173630.3):c.3167C>T (p.S1056F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70127718G>A" "" "VUS" "" "0000307456" "0" "10" "18" "67872554" "67872554" "subst" "0.00741407" "01943" "RTTN_000079" "g.67872554G>A" "" "" "" "RTTN(NM_173630.3):c.32-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70205318G>A" "" "benign" "" "0000307457" "0" "30" "18" "67794783" "67794783" "subst" "0.00193798" "01943" "RTTN_000040" "g.67794783C>T" "" "" "" "RTTN(NM_173630.3):c.3338G>A (p.C1113Y), RTTN(NM_173630.4):c.3338G>A (p.(Cys1113Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70127547C>T" "" "likely benign" "" "0000307458" "0" "10" "18" "67781783" "67781783" "subst" "0.00141544" "01943" "RTTN_000039" "g.67781783T>C" "" "" "" "RTTN(NM_173630.3):c.3581A>G (p.E1194G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70114547T>C" "" "benign" "" "0000307459" "0" "30" "18" "67776932" "67776932" "subst" "5.28344E-5" "01943" "RTTN_000038" "g.67776932G>A" "" "" "" "RTTN(NM_173630.3):c.3705C>T (p.Y1235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70109696G>A" "" "likely benign" "" "0000307460" "0" "10" "18" "67776875" "67776875" "subst" "0.00119416" "01943" "RTTN_000037" "g.67776875C>T" "" "" "" "RTTN(NM_173630.3):c.3762G>A (p.A1254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70109639C>T" "" "benign" "" "0000307462" "0" "50" "18" "67759906" "67759906" "subst" "0.00062299" "01943" "RTTN_000036" "g.67759906G>A" "" "" "" "RTTN(NM_173630.3):c.4032+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70092670G>A" "" "VUS" "" "0000307463" "0" "30" "18" "67759905" "67759905" "subst" "0.000126214" "01943" "RTTN_000035" "g.67759905C>T" "" "" "" "RTTN(NM_173630.3):c.4032+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70092669C>T" "" "likely benign" "" "0000307464" "0" "30" "18" "67755334" "67755334" "subst" "0.00178139" "01943" "RTTN_000034" "g.67755334G>A" "" "" "" "RTTN(NM_173630.3):c.4193C>T (p.T1398M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70088098G>A" "" "likely benign" "" "0000307465" "0" "50" "18" "67753887" "67753887" "subst" "0" "01943" "RTTN_000033" "g.67753887G>C" "" "" "" "RTTN(NM_173630.3):c.4336C>G (p.P1446A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70086651G>C" "" "VUS" "" "0000307466" "0" "10" "18" "67742801" "67742801" "subst" "0.947006" "01943" "RTTN_000032" "g.67742801G>A" "" "" "" "RTTN(NM_173630.3):c.4375-24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70075565G>A" "" "benign" "" "0000307467" "0" "10" "18" "67741238" "67741240" "del" "0" "01943" "RTTN_000031" "g.67741238_67741240del" "" "" "" "RTTN(NM_173630.3):c.4565-6_4565-4delTTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70074002_70074004del" "" "benign" "" "0000307468" "0" "10" "18" "67727285" "67727285" "subst" "0.00188015" "01943" "RTTN_000028" "g.67727285T>C" "" "" "" "RTTN(NM_173630.3):c.4748-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70060049T>C" "" "benign" "" "0000307469" "0" "30" "18" "67866755" "67866755" "subst" "0.000544968" "01943" "RTTN_000067" "g.67866755G>A" "" "" "" "RTTN(NM_173630.3):c.488-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70199519G>A" "" "likely benign" "" "0000307470" "0" "10" "18" "67727079" "67727079" "subst" "0.00764697" "01943" "RTTN_000026" "g.67727079C>T" "" "" "" "RTTN(NM_173630.3):c.4940+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70059843C>T" "" "benign" "" "0000307471" "0" "50" "18" "67721492" "67721492" "subst" "0.0157785" "01943" "RTTN_000025" "g.67721492G>C" "" "" "" "RTTN(NM_173630.3):c.5060C>G (p.S1687C, p.(Ser1687Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70054256G>C" "" "VUS" "" "0000307472" "0" "30" "18" "67721409" "67721409" "subst" "0.00212569" "01943" "RTTN_000024" "g.67721409T>C" "" "" "" "RTTN(NM_173630.3):c.5143A>G (p.N1715D), RTTN(NM_173630.4):c.5143A>G (p.N1715D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70054173T>C" "" "likely benign" "" "0000307474" "0" "30" "18" "67718651" "67718651" "subst" "0.0108458" "01943" "RTTN_000018" "g.67718651C>G" "" "" "" "RTTN(NM_173630.3):c.5319G>C (p.A1773=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70051415C>G" "" "likely benign" "" "0000307475" "0" "10" "18" "67715191" "67715191" "subst" "0.0054001" "01943" "RTTN_000017" "g.67715191C>A" "" "" "" "RTTN(NM_173630.3):c.5541+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70047955C>A" "" "benign" "" "0000307476" "0" "30" "18" "67698149" "67698149" "subst" "8.95394E-5" "01943" "RTTN_000016" "g.67698149C>T" "" "" "" "RTTN(NM_173630.3):c.5610G>A (p.L1870=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70030913C>T" "" "likely benign" "" "0000307477" "0" "10" "18" "67697235" "67697235" "subst" "0.00643831" "01943" "RTTN_000015" "g.67697235C>A" "" "" "" "RTTN(NM_173630.3):c.5745+13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70029999C>A" "" "benign" "" "0000307478" "0" "10" "18" "67866635" "67866635" "subst" "0.0280475" "01943" "RTTN_000065" "g.67866635C>T" "" "" "" "RTTN(NM_173630.3):c.578+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70199399C>T" "" "benign" "" "0000307479" "0" "50" "18" "67691954" "67691954" "subst" "4.07478E-6" "01943" "RTTN_000013" "g.67691954T>C" "" "" "" "RTTN(NM_173630.3):c.5950+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70024718T>C" "" "VUS" "" "0000307480" "0" "30" "18" "67687989" "67687989" "subst" "0.00708798" "01943" "RTTN_000012" "g.67687989G>A" "" "" "" "RTTN(NM_173630.3):c.6015C>T (p.A2005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70020753G>A" "" "likely benign" "" "0000307481" "0" "30" "18" "67687966" "67687966" "subst" "0.00661683" "01943" "RTTN_000011" "g.67687966C>A" "" "" "" "RTTN(NM_173630.3):c.6038G>T (p.C2013F), RTTN(NM_173630.4):c.6038G>T (p.C2013F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70020730C>A" "" "likely benign" "" "0000307482" "0" "50" "18" "67687924" "67687924" "subst" "0.000101745" "01943" "RTTN_000010" "g.67687924G>A" "" "" "" "RTTN(NM_173630.3):c.6080C>T (p.T2027M), RTTN(NM_173630.4):c.6080C>T (p.T2027M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70020688G>A" "" "VUS" "" "0000307483" "0" "50" "18" "67684857" "67684857" "subst" "0" "01943" "RTTN_000008" "g.67684857T>A" "" "" "" "RTTN(NM_173630.3):c.6207A>T (p.K2069N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70017621T>A" "" "VUS" "" "0000307484" "0" "50" "18" "67864918" "67864918" "subst" "0.0029898" "01943" "RTTN_000064" "g.67864918T>G" "" "" "" "RTTN(NM_173630.3):c.635A>C (p.D212A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70197682T>G" "" "VUS" "" "0000307485" "0" "30" "18" "67671479" "67671479" "subst" "0.000138434" "01943" "RTTN_000006" "g.67671479T>A" "" "" "" "RTTN(NM_173630.3):c.6596-7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70004243T>A" "" "likely benign" "" "0000307486" "0" "30" "18" "67863870" "67863870" "subst" "0.000204844" "01943" "RTTN_000062" "g.67863870C>A" "" "" "" "RTTN(NM_173630.3):c.708G>T (p.L236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70196634C>A" "" "likely benign" "" "0000307487" "0" "30" "18" "67872512" "67872512" "subst" "8.12275E-6" "01943" "RTTN_000078" "g.67872512C>G" "" "" "" "RTTN(NM_173630.3):c.71G>C (p.S24T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70205276C>G" "" "likely benign" "" "0000307488" "0" "10" "18" "67863844" "67863844" "subst" "0.321606" "01943" "RTTN_000060" "g.67863844T>C" "" "" "" "RTTN(NM_173630.3):c.734A>G (p.K245R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70196608T>C" "" "benign" "" "0000307489" "0" "50" "18" "67872503" "67872503" "subst" "2.43681E-5" "01943" "RTTN_000077" "g.67872503C>T" "" "" "" "RTTN(NM_173630.3):c.80G>A (p.C27Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70205267C>T" "" "VUS" "" "0000307490" "0" "10" "18" "67863711" "67863711" "subst" "0.00308159" "01943" "RTTN_000059" "g.67863711G>A" "" "" "" "RTTN(NM_173630.3):c.841+26C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70196475G>A" "" "benign" "" "0000307491" "0" "10" "18" "67860719" "67860719" "subst" "0.981538" "01943" "RTTN_000058" "g.67860719T>C" "" "" "" "RTTN(NM_173630.3):c.842-30A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70193483T>C" "" "benign" "" "0000307492" "0" "30" "18" "67860646" "67860646" "subst" "0.000837836" "01943" "RTTN_000057" "g.67860646T>C" "" "" "" "RTTN(NM_173630.3):c.885A>G (p.A295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70193410T>C" "" "likely benign" "" "0000325951" "0" "30" "18" "67733077" "67733077" "subst" "0" "01804" "RTTN_000029" "g.67733077A>C" "" "" "" "RTTN(NM_173630.3):c.4735T>G (p.(Phe1579Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70065841A>C" "" "likely benign" "" "0000339173" "0" "70" "18" "67671410" "67671410" "subst" "4.0662E-5" "02327" "RTTN_000083" "g.67671410C>T" "" "" "" "RTTN(NM_173630.3):c.6658G>A (p.V2220M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70004174C>T" "" "likely pathogenic" "" "0000344593" "0" "70" "18" "67866734" "67866734" "subst" "0.000443071" "02327" "RTTN_000085" "g.67866734T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70199498T>G" "" "likely pathogenic" "" "0000347348" "0" "70" "18" "67871441" "67871441" "subst" "0" "02327" "RTTN_000086" "g.67871441A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70204205A>G" "" "likely pathogenic" "" "0000565249" "0" "50" "18" "67671410" "67671410" "subst" "4.0662E-5" "01943" "RTTN_000083" "g.67671410C>T" "" "" "" "RTTN(NM_173630.3):c.6658G>A (p.V2220M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70004174C>T" "" "VUS" "" "0000565250" "0" "30" "18" "67671479" "67671479" "subst" "1.22148E-5" "01943" "RTTN_000087" "g.67671479T>C" "" "" "" "RTTN(NM_173630.3):c.6596-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70004243T>C" "" "likely benign" "" "0000565252" "0" "10" "18" "67687860" "67687860" "subst" "0.19068" "01943" "RTTN_000089" "g.67687860T>C" "" "" "" "RTTN(NM_173630.3):c.6144A>G (p.V2048=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70020624T>C" "" "benign" "" "0000565254" "0" "30" "18" "67718690" "67718690" "subst" "0.00237545" "01943" "RTTN_000091" "g.67718690C>T" "" "" "" "RTTN(NM_173630.3):c.5280G>A (p.P1760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70051454C>T" "" "likely benign" "" "0000565255" "0" "30" "18" "67718788" "67718788" "subst" "0.00519543" "01804" "RTTN_000092" "g.67718788T>C" "" "" "" "RTTN(NM_173630.3):c.5186-4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70051552T>C" "" "likely benign" "" "0000565256" "0" "30" "18" "67721492" "67721492" "subst" "0.0157785" "01804" "RTTN_000025" "g.67721492G>C" "" "" "" "RTTN(NM_173630.3):c.5060C>G (p.S1687C, p.(Ser1687Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70054256G>C" "" "likely benign" "" "0000565257" "0" "30" "18" "67727283" "67727283" "subst" "0.00484534" "01804" "RTTN_000093" "g.67727283T>C" "" "" "" "RTTN(NM_173630.3):c.4748-5A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70060047T>C" "" "likely benign" "" "0000565259" "0" "30" "18" "67753955" "67753969" "del" "0" "02326" "RTTN_000095" "g.67753955_67753969del" "" "" "" "RTTN(NM_173630.4):c.4303-25_4303-11delTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70086719_70086733del" "" "likely benign" "" "0000565260" "0" "50" "18" "67755229" "67755229" "subst" "0.000324451" "01943" "RTTN_000096" "g.67755229C>T" "" "" "" "RTTN(NM_173630.3):c.4298G>A (p.R1433Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70087993C>T" "" "VUS" "" "0000565262" "0" "30" "18" "67776854" "67776854" "subst" "4.87413E-5" "02325" "RTTN_000097" "g.67776854C>T" "" "" "" "RTTN(NM_173630.4):c.3783G>A (p.P1261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70109618C>T" "" "likely benign" "" "0000565263" "0" "30" "18" "67776870" "67776870" "subst" "8.12361E-6" "01804" "RTTN_000098" "g.67776870T>A" "" "" "" "RTTN(NM_173630.3):c.3767A>T (p.(His1256Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70109634T>A" "" "likely benign" "" "0000565264" "0" "30" "18" "67781701" "67781701" "subst" "0.000313707" "01804" "RTTN_000099" "g.67781701A>C" "" "" "" "RTTN(NM_173630.3):c.3663T>G (p.(Asn1221Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70114465A>C" "" "likely benign" "" "0000565265" "0" "30" "18" "67794886" "67794886" "subst" "2.03566E-5" "01943" "RTTN_000100" "g.67794886T>C" "" "" "" "RTTN(NM_173630.3):c.3235A>G (p.I1079V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70127650T>C" "" "likely benign" "" "0000565267" "0" "30" "18" "67795689" "67795689" "subst" "0.00229434" "01943" "RTTN_000102" "g.67795689C>T" "" "" "" "RTTN(NM_173630.3):c.3048G>A (p.P1016=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70128453C>T" "" "likely benign" "" "0000565269" "0" "50" "18" "67802501" "67802501" "subst" "0.00148867" "02327" "RTTN_000045" "g.67802501T>C" "" "" "" "RTTN(NM_173630.3):c.2804A>G (p.H935R), RTTN(NM_173630.4):c.2804A>G (p.H935R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70135265T>C" "" "VUS" "" "0000565272" "0" "50" "18" "67816263" "67816263" "subst" "7.74069E-5" "01943" "RTTN_000106" "g.67816263T>G" "" "" "" "RTTN(NM_173630.3):c.2183A>C (p.D728A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70149027T>G" "" "VUS" "" "0000565273" "0" "10" "18" "67817189" "67817189" "subst" "0" "01943" "RTTN_000107" "g.67817189G>T" "" "" "" "RTTN(NM_173630.3):c.2172+18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70149953G>T" "" "benign" "" "0000565274" "0" "10" "18" "67817837" "67817837" "subst" "0.0157785" "01943" "RTTN_000108" "g.67817837G>A" "" "" "" "RTTN(NM_173630.3):c.2055+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70150601G>A" "" "benign" "" "0000565276" "0" "30" "18" "67833295" "67833295" "subst" "0.00180164" "01804" "RTTN_000109" "g.67833295C>T" "" "" "" "RTTN(NM_173630.3):c.1929+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70166059C>T" "" "likely benign" "" "0000565278" "0" "50" "18" "67833395" "67833395" "subst" "0" "02327" "RTTN_000110" "g.67833395A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70166159A>G" "" "VUS" "" "0000565279" "0" "30" "18" "67836115" "67836115" "subst" "0.0156827" "01804" "RTTN_000054" "g.67836115G>T" "" "" "" "RTTN(NM_173630.3):c.1665C>A (p.N555K, p.(Asn555Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70168879G>T" "" "likely benign" "" "0000565281" "0" "30" "18" "67836217" "67836217" "subst" "0.00110204" "01943" "RTTN_000112" "g.67836217A>G" "" "" "" "RTTN(NM_173630.3):c.1563T>C (p.I521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70168981A>G" "" "likely benign" "" "0000565282" "0" "30" "18" "67843964" "67843964" "subst" "6.50936E-5" "01943" "RTTN_000113" "g.67843964T>C" "" "" "" "RTTN(NM_173630.3):c.1423A>G (p.S475G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70176728T>C" "" "likely benign" "" "0000565284" "0" "30" "18" "67844057" "67844057" "subst" "0.000521449" "01804" "RTTN_000115" "g.67844057C>T" "" "" "" "RTTN(NM_173630.3):c.1330G>A (p.(Gly444Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70176821C>T" "" "likely benign" "" "0000565285" "0" "30" "18" "67844097" "67844097" "subst" "4.16219E-6" "01943" "RTTN_000116" "g.67844097C>T" "" "" "" "RTTN(NM_173630.3):c.1306-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70176861C>T" "" "likely benign" "" "0000565286" "0" "30" "18" "67857959" "67857959" "subst" "0.0120792" "01804" "RTTN_000056" "g.67857959C>A" "" "" "" "RTTN(NM_173630.3):c.1008-4G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70190723C>A" "" "likely benign" "" "0000565287" "0" "30" "18" "67860626" "67860626" "subst" "5.41725E-5" "01943" "RTTN_000117" "g.67860626T>G" "" "" "" "RTTN(NM_173630.3):c.905A>C (p.Q302P), RTTN(NM_173630.4):c.905A>C (p.(Gln302Pro), p.Q302P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70193390T>G" "" "likely benign" "" "0000565288" "0" "10" "18" "67863852" "67863854" "dup" "0" "02325" "RTTN_000118" "g.67863852_67863854dup" "" "" "" "RTTN(NM_173630.3):c.725_727dupGAG (p.G242dup), RTTN(NM_173630.4):c.723_725dupGAG (p.G242dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70196616_70196618dup" "" "benign" "" "0000565289" "0" "10" "18" "67863852" "67863854" "dup" "0" "01943" "RTTN_000118" "g.67863852_67863854dup" "" "" "" "RTTN(NM_173630.3):c.725_727dupGAG (p.G242dup), RTTN(NM_173630.4):c.723_725dupGAG (p.G242dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70196616_70196618dup" "" "benign" "" "0000565290" "0" "10" "18" "67863903" "67863903" "subst" "0.00261937" "01943" "RTTN_000119" "g.67863903G>A" "" "" "" "RTTN(NM_173630.3):c.694-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70196667G>A" "" "benign" "" "0000565291" "0" "30" "18" "67864951" "67864951" "subst" "0" "01804" "RTTN_000120" "g.67864951G>C" "" "" "" "RTTN(NM_173630.3):c.602C>G (p.(Thr201Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70197715G>C" "" "likely benign" "" "0000617234" "0" "30" "18" "67691992" "67691992" "subst" "0.000227883" "01804" "RTTN_000123" "g.67691992C>G" "" "" "" "RTTN(NM_173630.3):c.5916G>C (p.(Gln1972His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70024756C>G" "" "likely benign" "" "0000617235" "0" "50" "18" "67721409" "67721409" "subst" "0.00212569" "02325" "RTTN_000024" "g.67721409T>C" "" "" "" "RTTN(NM_173630.3):c.5143A>G (p.N1715D), RTTN(NM_173630.4):c.5143A>G (p.N1715D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70054173T>C" "" "VUS" "" "0000617239" "0" "50" "18" "67817936" "67817936" "subst" "1.62816E-5" "01943" "RTTN_000130" "g.67817936C>T" "" "" "" "RTTN(NM_173630.3):c.1963G>A (p.V655M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70150700C>T" "" "VUS" "" "0000617240" "0" "50" "18" "67872876" "67872876" "subst" "0.000101561" "01943" "RTTN_000122" "g.67872876T>C" "" "" "" "RTTN(NM_173630.3):c.19A>G (p.I7V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70205640T>C" "" "VUS" "" "0000623883" "0" "30" "18" "67692058" "67692058" "subst" "9.36299E-5" "01943" "RTTN_000124" "g.67692058G>A" "" "" "" "RTTN(NM_173630.3):c.5850C>T (p.V1950=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70024822G>A" "" "likely benign" "" "0000623884" "0" "30" "18" "67721497" "67721497" "subst" "4.0826E-5" "01943" "RTTN_000125" "g.67721497T>C" "" "" "" "RTTN(NM_173630.3):c.5055A>G (p.L1685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70054261T>C" "" "likely benign" "" "0000623886" "0" "30" "18" "67809516" "67809516" "subst" "9.05268E-5" "01943" "RTTN_000129" "g.67809516G>A" "" "" "" "RTTN(NM_173630.3):c.2581+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70142280G>A" "" "likely benign" "" "0000623887" "0" "50" "18" "67864952" "67864952" "subst" "0" "01943" "RTTN_000131" "g.67864952T>A" "" "" "" "RTTN(NM_173630.3):c.601A>T (p.T201S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70197716T>A" "" "VUS" "" "0000623888" "0" "50" "18" "67864963" "67864963" "subst" "0.000195185" "01943" "RTTN_000132" "g.67864963C>T" "" "" "" "RTTN(NM_173630.3):c.590G>A (p.S197N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70197727C>T" "" "VUS" "" "0000623889" "0" "50" "18" "67869162" "67869162" "subst" "0.000109787" "02325" "RTTN_000069" "g.67869162A>C" "" "" "" "RTTN(NM_173630.3):c.455T>G (p.F152C), RTTN(NM_173630.4):c.455T>G (p.F152C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70201926A>C" "" "VUS" "" "0000649854" "1" "50" "18" "67684875" "67684875" "subst" "0.000553615" "03575" "RTTN_000133" "g.67684875C>A" "7/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs77798966}" "Germline" "" "rs77798966" "0" "" "" "g.70017639C>A" "" "VUS" "" "0000649855" "1" "30" "18" "67687966" "67687966" "subst" "0.00661683" "03575" "RTTN_000011" "g.67687966C>A" "41/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "41 heterozygous; {DB:CLININrs145976466}" "Germline" "" "rs145976466" "0" "" "" "g.70020730C>A" "" "likely benign" "" "0000649856" "1" "10" "18" "67721492" "67721492" "subst" "0.0157785" "03575" "RTTN_000025" "g.67721492G>C" "204/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "204 heterozygous; {DB:CLININrs34717557}" "Germline" "" "rs34717557" "0" "" "" "g.70054256G>C" "" "benign" "" "0000649857" "1" "10" "18" "67801786" "67801786" "subst" "0.0170528" "03575" "RTTN_000042" "g.67801786T>C" "54/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "54 heterozygous, no homozygous; {DB:CLININrs75225724}" "Germline" "" "rs75225724" "0" "" "" "g.70134550T>C" "" "benign" "" "0000649858" "1" "10" "18" "67802449" "67802449" "subst" "0.0215948" "03575" "RTTN_000043" "g.67802449T>C" "30/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "30 heterozygous, no homozygous; {DB:CLININrs35139926}" "Germline" "" "rs35139926" "0" "" "" "g.70135213T>C" "" "benign" "" "0000649859" "1" "10" "18" "67817837" "67817837" "subst" "0.0157785" "03575" "RTTN_000108" "g.67817837G>A" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs117843366}" "Germline" "" "rs117843366" "0" "" "" "g.70150601G>A" "" "benign" "" "0000649860" "1" "10" "18" "67836115" "67836115" "subst" "0.0156827" "03575" "RTTN_000054" "g.67836115G>T" "199/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "199 heterozygous; {DB:CLININrs34353615}" "Germline" "" "rs34353615" "0" "" "" "g.70168879G>T" "" "benign" "" "0000649861" "1" "30" "18" "67863773" "67863773" "subst" "0.00292677" "03575" "RTTN_000134" "g.67863773A>G" "23/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "23 heterozygous, no homozygous; {DB:CLININrs141156594}" "Germline" "" "rs141156594" "0" "" "" "g.70196537A>G" "" "likely benign" "" "0000649862" "1" "10" "18" "67863844" "67863844" "subst" "0.321606" "03575" "RTTN_000060" "g.67863844T>C" "143/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "143 heterozygous; {DB:CLININrs17082206}" "Germline" "" "rs17082206" "0" "" "" "g.70196608T>C" "" "benign" "" "0000658426" "0" "50" "18" "67759372" "67759372" "subst" "1.21925E-5" "01943" "RTTN_000135" "g.67759372G>C" "" "" "" "RTTN(NM_173630.3):c.4117C>G (p.P1373A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70092136G>C" "" "VUS" "" "0000669452" "3" "30" "18" "67687966" "67687966" "subst" "0.00661683" "03575" "RTTN_000011" "g.67687966C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs145976466}" "Germline" "" "rs145976466" "0" "" "" "g.70020730C>A" "" "likely benign" "" "0000669453" "3" "10" "18" "67721492" "67721492" "subst" "0.0157785" "03575" "RTTN_000025" "g.67721492G>C" "4/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs34717557}" "Germline" "" "rs34717557" "0" "" "" "g.70054256G>C" "" "benign" "" "0000669454" "3" "10" "18" "67836115" "67836115" "subst" "0.0156827" "03575" "RTTN_000054" "g.67836115G>T" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs34353615}" "Germline" "" "rs34353615" "0" "" "" "g.70168879G>T" "" "benign" "" "0000669455" "3" "10" "18" "67863844" "67863844" "subst" "0.321606" "03575" "RTTN_000060" "g.67863844T>C" "4/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs17082206}" "Germline" "" "rs17082206" "0" "" "" "g.70196608T>C" "" "benign" "" "0000681194" "0" "30" "18" "67753929" "67753929" "subst" "0" "01943" "RTTN_000136" "g.67753929G>T" "" "" "" "RTTN(NM_173630.3):c.4303-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681195" "0" "30" "18" "67759930" "67759930" "subst" "4.06398E-6" "02325" "RTTN_000137" "g.67759930C>T" "" "" "" "RTTN(NM_173630.4):c.4014G>A (p.M1338I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681196" "0" "50" "18" "67871376" "67871376" "subst" "0" "01943" "RTTN_000138" "g.67871376G>A" "" "" "" "RTTN(NM_173630.3):c.343C>T (p.L115F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726986" "0" "70" "18" "67691963" "67691966" "del" "0" "01943" "RTTN_000139" "g.67691963_67691966del" "" "" "" "RTTN(NM_173630.3):c.5942_5945delTTCC (p.F1981*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726987" "0" "50" "18" "67691984" "67691984" "subst" "0" "02329" "RTTN_000014" "g.67691984C>A" "" "" "" "RTTN(NM_173630.4):c.5924G>T (p.C1975F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726988" "0" "30" "18" "67692025" "67692025" "subst" "0.000480007" "01943" "RTTN_000090" "g.67692025C>T" "" "" "" "RTTN(NM_173630.3):c.5883G>A (p.L1961=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726989" "0" "30" "18" "67721373" "67721373" "subst" "0" "01943" "RTTN_000140" "g.67721373C>T" "" "" "" "RTTN(NM_173630.3):c.5179G>A (p.V1727I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726990" "0" "90" "18" "67759946" "67759946" "subst" "0" "01943" "RTTN_000141" "g.67759946A>C" "" "" "" "RTTN(NM_173630.3):c.3998T>G (p.L1333*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808565" "0" "30" "18" "67687843" "67687843" "subst" "0" "01943" "RTTN_000142" "g.67687843G>A" "" "" "" "RTTN(NM_173630.3):c.6153+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808566" "0" "50" "18" "67781768" "67781768" "subst" "8.132E-6" "01943" "RTTN_000143" "g.67781768A>G" "" "" "" "RTTN(NM_173630.3):c.3596T>C (p.I1199T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808567" "0" "30" "18" "67816148" "67816148" "subst" "0" "01943" "RTTN_000144" "g.67816148C>T" "" "" "" "RTTN(NM_173630.3):c.2298G>A (p.V766=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808568" "0" "30" "18" "67816209" "67816209" "subst" "4.06878E-6" "01943" "RTTN_000145" "g.67816209T>G" "" "" "" "RTTN(NM_173630.3):c.2237A>C (p.D746A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808569" "0" "50" "18" "67864923" "67864923" "subst" "0.000442783" "01943" "RTTN_000146" "g.67864923C>G" "" "" "" "RTTN(NM_173630.3):c.630G>C (p.L210F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808570" "0" "50" "18" "67871418" "67871418" "subst" "0" "01943" "RTTN_000147" "g.67871418G>T" "" "" "" "RTTN(NM_173630.3):c.301C>A (p.L101M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855352" "0" "30" "18" "67806943" "67806943" "subst" "0.00022096" "01943" "RTTN_000148" "g.67806943A>G" "" "" "" "RTTN(NM_173630.3):c.2680T>C (p.C894R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865746" "0" "50" "18" "67817869" "67817869" "subst" "0.000101793" "01943" "RTTN_000149" "g.67817869A>C" "" "" "" "RTTN(NM_173630.3):c.2030T>G (p.F677C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865747" "0" "50" "18" "67855344" "67855344" "subst" "1.63383E-5" "01943" "RTTN_000150" "g.67855344C>G" "" "" "" "RTTN(NM_173630.3):c.1305G>C (p.M435I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865748" "0" "30" "18" "67866667" "67866667" "subst" "0" "01943" "RTTN_000151" "g.67866667G>T" "" "" "" "RTTN(NM_173630.3):c.561C>A (p.V187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000877872" "0" "70" "18" "67755343" "67755343" "del" "0" "00000" "RTTN_000003" "g.67755343del" "" "{PMID:Rump 2016:26846091}" "" "RTTN c.4186delC, p.E1397Kfs*7" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.70088107del" "" "likely pathogenic" "" "0000877873" "0" "70" "18" "67755343" "67755343" "del" "0" "00000" "RTTN_000003" "g.67755343del" "" "{PMID:Rump 2016:26846091}" "" "RTTN c.4186delC, p.E1397Kfs*7" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.70088107del" "" "likely pathogenic" "" "0000877881" "0" "70" "18" "67807412" "67807412" "subst" "4.13798E-6" "00000" "RTTN_000004" "g.67807412T>C" "" "{PMID:Rump 2016:26846091}" "" "RTTN c.2594A > G, p.H865R" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.70140176T>C" "" "likely pathogenic" "" "0000877882" "0" "70" "18" "67807412" "67807412" "subst" "4.13798E-6" "00000" "RTTN_000004" "g.67807412T>C" "" "{PMID:Rump 2016:26846091}" "" "RTTN c.2594A > G, p.H865R" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.70140176T>C" "" "likely pathogenic" "" "0000894625" "0" "50" "18" "67802501" "67802501" "subst" "0.00148867" "02325" "RTTN_000045" "g.67802501T>C" "" "" "" "RTTN(NM_173630.3):c.2804A>G (p.H935R), RTTN(NM_173630.4):c.2804A>G (p.H935R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894626" "0" "30" "18" "67860626" "67860626" "subst" "5.41725E-5" "02325" "RTTN_000117" "g.67860626T>G" "" "" "" "RTTN(NM_173630.3):c.905A>C (p.Q302P), RTTN(NM_173630.4):c.905A>C (p.(Gln302Pro), p.Q302P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920689" "3" "90" "18" "67801710" "67801710" "subst" "0" "00006" "RTTN_000103" "g.67801710T>C" "" "{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.70134474T>C" "" "pathogenic (recessive)" "" "0000926772" "0" "10" "18" "67687966" "67687966" "subst" "0.00661683" "02326" "RTTN_000011" "g.67687966C>A" "" "" "" "RTTN(NM_173630.3):c.6038G>T (p.C2013F), RTTN(NM_173630.4):c.6038G>T (p.C2013F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926773" "0" "30" "18" "67721409" "67721409" "subst" "0.00212569" "02326" "RTTN_000024" "g.67721409T>C" "" "" "" "RTTN(NM_173630.3):c.5143A>G (p.N1715D), RTTN(NM_173630.4):c.5143A>G (p.N1715D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983103" "0" "30" "18" "67759903" "67759903" "subst" "0.00026479" "01804" "RTTN_000152" "g.67759903C>T" "" "" "" "RTTN(NM_173630.4):c.4032+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983104" "0" "50" "18" "67794783" "67794783" "subst" "0.00193798" "01804" "RTTN_000040" "g.67794783C>T" "" "" "" "RTTN(NM_173630.3):c.3338G>A (p.C1113Y), RTTN(NM_173630.4):c.3338G>A (p.(Cys1113Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983105" "0" "50" "18" "67807425" "67807425" "subst" "0" "01804" "RTTN_000153" "g.67807425C>T" "" "" "" "RTTN(NM_173630.4):c.2582-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983106" "0" "50" "18" "67860626" "67860626" "subst" "5.41725E-5" "01804" "RTTN_000117" "g.67860626T>G" "" "" "" "RTTN(NM_173630.3):c.905A>C (p.Q302P), RTTN(NM_173630.4):c.905A>C (p.(Gln302Pro), p.Q302P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983107" "0" "50" "18" "67872485" "67872485" "subst" "2.84289E-5" "01804" "RTTN_000154" "g.67872485A>G" "" "" "" "RTTN(NM_173630.4):c.98T>C (p.(Leu33Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004236" "0" "50" "18" "67755274" "67755274" "subst" "2.84601E-5" "01804" "RTTN_000155" "g.67755274A>G" "" "" "" "RTTN(NM_173630.3):c.4253T>C (p.(Val1418Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004237" "0" "70" "18" "67817325" "67817325" "subst" "0" "01804" "RTTN_000156" "g.67817325T>C" "" "" "" "RTTN(NM_173630.3):c.2056-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001004238" "0" "50" "18" "67863775" "67863775" "subst" "2.04227E-5" "01804" "RTTN_000157" "g.67863775T>C" "" "" "" "RTTN(NM_173630.3):c.803A>G (p.(Asn268Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027142" "0" "50" "18" "67673697" "67673697" "subst" "0.00584098" "01943" "RTTN_000088" "g.67673697C>T" "" "" "" "RTTN(NM_173630.3):c.6445G>A (p.A2149T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027143" "0" "50" "18" "67687924" "67687924" "subst" "0.000101745" "02325" "RTTN_000010" "g.67687924G>A" "" "" "" "RTTN(NM_173630.3):c.6080C>T (p.T2027M), RTTN(NM_173630.4):c.6080C>T (p.T2027M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027144" "0" "50" "18" "67753917" "67753917" "subst" "0" "02325" "RTTN_000158" "g.67753917C>A" "" "" "" "RTTN(NM_173630.4):c.4306G>T (p.A1436S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042510" "0" "50" "18" "67715248" "67715248" "subst" "9.34526E-5" "01804" "RTTN_000159" "g.67715248T>C" "" "" "" "RTTN(NM_173630.4):c.5500A>G (p.(Asn1834Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042511" "0" "30" "18" "67741133" "67741133" "subst" "0" "01804" "RTTN_000160" "g.67741133T>C" "" "" "" "RTTN(NM_173630.4):c.4653+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042512" "0" "50" "18" "67788911" "67788911" "subst" "3.90826E-5" "01804" "RTTN_000161" "g.67788911T>C" "" "" "" "RTTN(NM_173630.4):c.3409A>G (p.(Thr1137Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042513" "0" "30" "18" "67802484" "67802484" "subst" "0.000301849" "01804" "RTTN_000044" "g.67802484C>G" "" "" "" "RTTN(NM_173630.3):c.2821G>C (p.V941L), RTTN(NM_173630.4):c.2821G>C (p.(Val941Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056369" "0" "50" "18" "67812952" "67812952" "subst" "1.62835E-5" "01804" "RTTN_000162" "g.67812952G>A" "" "" "" "RTTN(NM_173630.4):c.2377C>T (p.(Arg793Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056370" "0" "50" "18" "67836126" "67836126" "subst" "0" "01804" "RTTN_000163" "g.67836126A>G" "" "" "" "RTTN(NM_173630.4):c.1654T>C (p.(Cys552Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056371" "0" "50" "18" "67860579" "67860579" "subst" "5.7781E-5" "01804" "RTTN_000164" "g.67860579G>A" "" "" "" "RTTN(NM_173630.4):c.952C>T (p.(Arg318Cys))" "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 RTTN ## Count = 179 "{{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}}" "0000079493" "00018301" "00" "6368" "0" "6368" "0" "c.6368T>C" "r.(?)" "p.(Ile2123Thr)" "" "0000079672" "00018301" "00" "-8388608" "0" "8388607" "0" "c.-10142286_*19308723del" "r.0?" "p.0?" "" "0000079678" "00018301" "00" "5914" "0" "5914" "0" "c.5914C>T" "r.(?)" "p.(Gln1972*)" "" "0000087505" "00018301" "70" "2594" "0" "2594" "0" "c.2594A>G" "r.(?)" "p.(His865Arg)" "20" "0000087506" "00018301" "70" "4186" "0" "4186" "0" "c.4186del" "r.(?)" "p.(Glu1397Lysfs*7)" "31" "0000244148" "00018301" "90" "2796" "0" "2796" "0" "c.2796A>T" "r.(?)" "p.(Leu932Phe)" "" "0000248760" "00018301" "10" "5282" "0" "5282" "0" "c.5282T>C" "r.(?)" "p.(Phe1761Ser)" "" "0000248894" "00018301" "10" "376" "0" "376" "0" "c.376T>G" "r.(?)" "p.(Ser126Ala)" "" "0000253623" "00018301" "10" "4850" "0" "4850" "0" "c.4850T>C" "r.(?)" "p.(Met1617Thr)" "" "0000253688" "00018301" "10" "5200" "0" "5200" "0" "c.5200T>G" "r.(?)" "p.(Ser1734Ala)" "" "0000253928" "00018301" "10" "5185" "27" "5185" "27" "c.5185+27T>C" "r.(=)" "p.(=)" "" "0000253930" "00018301" "10" "2482" "-10" "2482" "-10" "c.2482-10del" "r.(=)" "p.(=)" "" "0000253931" "00018301" "10" "694" "-9" "694" "-9" "c.694-9T>G" "r.(=)" "p.(=)" "" "0000253932" "00018301" "10" "220" "-12" "220" "-12" "c.220-12T>C" "r.(=)" "p.(=)" "" "0000253933" "00018301" "10" "-19" "0" "-19" "0" "c.-19T>G" "r.(?)" "p.(=)" "" "0000254397" "00018301" "30" "455" "0" "455" "0" "c.455T>G" "r.(?)" "p.(Phe152Cys)" "" "0000255322" "00018301" "30" "6596" "-8" "6596" "-8" "c.6596-8T>A" "r.(=)" "p.(=)" "" "0000256737" "00018301" "50" "6153" "9" "6153" "9" "c.6153+9T>G" "r.(=)" "p.(=)" "" "0000301517" "00018301" "90" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Gln154Ter)" "" "0000307435" "00018301" "10" "1008" "-4" "1008" "-4" "c.1008-4G>T" "r.spl?" "p.?" "" "0000307436" "00018301" "10" "1458" "0" "1458" "0" "c.1458G>A" "r.(?)" "p.(Thr486=)" "" "0000307437" "00018301" "10" "153" "0" "153" "0" "c.153A>G" "r.(?)" "p.(Glu51=)" "" "0000307438" "00018301" "50" "1665" "0" "1665" "0" "c.1665C>A" "r.(?)" "p.(Asn555Lys)" "" "0000307439" "00018301" "10" "1802" "29" "1802" "29" "c.1802+29G>A" "r.(=)" "p.(=)" "" "0000307440" "00018301" "10" "183" "0" "183" "0" "c.183G>A" "r.(?)" "p.(Lys61=)" "" "0000307441" "00018301" "30" "1842" "0" "1842" "0" "c.1842A>G" "r.(?)" "p.(Glu614=)" "" "0000307442" "00018301" "30" "1921" "0" "1921" "0" "c.1921A>G" "r.(?)" "p.(Ile641Val)" "" "0000307443" "00018301" "50" "2255" "0" "2255" "0" "c.2255C>T" "r.(?)" "p.(Pro752Leu)" "" "0000307444" "00018301" "10" "2309" "12" "2309" "12" "c.2309+12G>A" "r.(=)" "p.(=)" "" "0000307445" "00018301" "30" "2340" "0" "2340" "0" "c.2340A>T" "r.(?)" "p.(Ala780=)" "" "0000307446" "00018301" "30" "2610" "0" "2610" "0" "c.2610G>A" "r.(?)" "p.(Lys870=)" "" "0000307447" "00018301" "70" "2796" "0" "2796" "0" "c.2796A>T" "r.(?)" "p.(Leu932Phe)" "" "0000307448" "00018301" "50" "2804" "0" "2804" "0" "c.2804A>G" "r.(?)" "p.(His935Arg)" "" "0000307449" "00018301" "30" "2821" "0" "2821" "0" "c.2821G>C" "r.(?)" "p.(Val941Leu)" "" "0000307450" "00018301" "30" "282" "0" "282" "0" "c.282G>T" "r.(?)" "p.(Arg94=)" "" "0000307451" "00018301" "30" "2856" "0" "2856" "0" "c.2856A>G" "r.(?)" "p.(Leu952=)" "" "0000307452" "00018301" "10" "2886" "-9" "2886" "-9" "c.2886-9A>G" "r.(=)" "p.(=)" "" "0000307453" "00018301" "30" "31" "18" "31" "18" "c.31+18C>T" "r.(=)" "p.(=)" "" "0000307454" "00018301" "90" "31" "1" "31" "1" "c.31+1G>T" "r.spl?" "p.?" "" "0000307455" "00018301" "50" "3167" "0" "3167" "0" "c.3167C>T" "r.(?)" "p.(Ser1056Phe)" "" "0000307456" "00018301" "10" "32" "-3" "32" "-3" "c.32-3C>T" "r.spl?" "p.?" "" "0000307457" "00018301" "30" "3338" "0" "3338" "0" "c.3338G>A" "r.(?)" "p.(Cys1113Tyr)" "" "0000307458" "00018301" "10" "3581" "0" "3581" "0" "c.3581A>G" "r.(?)" "p.(Glu1194Gly)" "" "0000307459" "00018301" "30" "3705" "0" "3705" "0" "c.3705C>T" "r.(?)" "p.(Tyr1235=)" "" "0000307460" "00018301" "10" "3762" "0" "3762" "0" "c.3762G>A" "r.(?)" "p.(Ala1254=)" "" "0000307462" "00018301" "50" "4032" "6" "4032" "6" "c.4032+6C>T" "r.(=)" "p.(=)" "" "0000307463" "00018301" "30" "4032" "7" "4032" "7" "c.4032+7G>A" "r.(=)" "p.(=)" "" "0000307464" "00018301" "30" "4193" "0" "4193" "0" "c.4193C>T" "r.(?)" "p.(Thr1398Met)" "" "0000307465" "00018301" "50" "4336" "0" "4336" "0" "c.4336C>G" "r.(?)" "p.(Pro1446Ala)" "" "0000307466" "00018301" "10" "4375" "-24" "4375" "-24" "c.4375-24C>T" "r.(=)" "p.(=)" "" "0000307467" "00018301" "10" "4565" "-6" "4565" "-4" "c.4565-6_4565-4del" "r.spl?" "p.?" "" "0000307468" "00018301" "10" "4748" "-7" "4748" "-7" "c.4748-7A>G" "r.(=)" "p.(=)" "" "0000307469" "00018301" "30" "488" "-15" "488" "-15" "c.488-15C>T" "r.(=)" "p.(=)" "" "0000307470" "00018301" "10" "4940" "7" "4940" "7" "c.4940+7G>A" "r.(=)" "p.(=)" "" "0000307471" "00018301" "50" "5060" "0" "5060" "0" "c.5060C>G" "r.(?)" "p.(Ser1687Cys)" "" "0000307472" "00018301" "30" "5143" "0" "5143" "0" "c.5143A>G" "r.(?)" "p.(Asn1715Asp)" "" "0000307474" "00018301" "30" "5319" "0" "5319" "0" "c.5319G>C" "r.(?)" "p.(Ala1773=)" "" "0000307475" "00018301" "10" "5541" "16" "5541" "16" "c.5541+16G>T" "r.(=)" "p.(=)" "" "0000307476" "00018301" "30" "5610" "0" "5610" "0" "c.5610G>A" "r.(?)" "p.(Leu1870=)" "" "0000307477" "00018301" "10" "5745" "13" "5745" "13" "c.5745+13G>T" "r.(=)" "p.(=)" "" "0000307478" "00018301" "10" "578" "15" "578" "15" "c.578+15G>A" "r.(=)" "p.(=)" "" "0000307479" "00018301" "50" "5950" "4" "5950" "4" "c.5950+4A>G" "r.spl?" "p.?" "" "0000307480" "00018301" "30" "6015" "0" "6015" "0" "c.6015C>T" "r.(?)" "p.(Ala2005=)" "" "0000307481" "00018301" "30" "6038" "0" "6038" "0" "c.6038G>T" "r.(?)" "p.(Cys2013Phe)" "" "0000307482" "00018301" "50" "6080" "0" "6080" "0" "c.6080C>T" "r.(?)" "p.(Thr2027Met)" "" "0000307483" "00018301" "50" "6207" "0" "6207" "0" "c.6207A>T" "r.(?)" "p.(Lys2069Asn)" "" "0000307484" "00018301" "50" "635" "0" "635" "0" "c.635A>C" "r.(?)" "p.(Asp212Ala)" "" "0000307485" "00018301" "30" "6596" "-7" "6596" "-7" "c.6596-7A>T" "r.(=)" "p.(=)" "" "0000307486" "00018301" "30" "708" "0" "708" "0" "c.708G>T" "r.(?)" "p.(Leu236=)" "" "0000307487" "00018301" "30" "71" "0" "71" "0" "c.71G>C" "r.(?)" "p.(Ser24Thr)" "" "0000307488" "00018301" "10" "734" "0" "734" "0" "c.734A>G" "r.(?)" "p.(Lys245Arg)" "" "0000307489" "00018301" "50" "80" "0" "80" "0" "c.80G>A" "r.(?)" "p.(Cys27Tyr)" "" "0000307490" "00018301" "10" "841" "26" "841" "26" "c.841+26C>T" "r.(=)" "p.(=)" "" "0000307491" "00018301" "10" "842" "-30" "842" "-30" "c.842-30A>G" "r.(=)" "p.(=)" "" "0000307492" "00018301" "30" "885" "0" "885" "0" "c.885A>G" "r.(?)" "p.(Ala295=)" "" "0000325951" "00018301" "30" "4735" "0" "4735" "0" "c.4735T>G" "r.(?)" "p.(Phe1579Val)" "" "0000339173" "00018301" "70" "6658" "0" "6658" "0" "c.6658G>A" "r.(?)" "p.(Val2220Met)" "" "0000344593" "00018301" "70" "494" "0" "494" "0" "c.494A>C" "r.(?)" "p.(Gln165Pro)" "" "0000347348" "00018301" "70" "278" "0" "278" "0" "c.278T>C" "r.(?)" "p.(Leu93Pro)" "" "0000565249" "00018301" "50" "6658" "0" "6658" "0" "c.6658G>A" "r.(?)" "p.(Val2220Met)" "" "0000565250" "00018301" "30" "6596" "-7" "6596" "-7" "c.6596-7A>G" "r.(=)" "p.(=)" "" "0000565252" "00018301" "10" "6144" "0" "6144" "0" "c.6144A>G" "r.(?)" "p.(Val2048=)" "" "0000565254" "00018301" "30" "5280" "0" "5280" "0" "c.5280G>A" "r.(?)" "p.(Pro1760=)" "" "0000565255" "00018301" "30" "5186" "-4" "5186" "-4" "c.5186-4A>G" "r.spl?" "p.?" "" "0000565256" "00018301" "30" "5060" "0" "5060" "0" "c.5060C>G" "r.(?)" "p.(Ser1687Cys)" "" "0000565257" "00018301" "30" "4748" "-5" "4748" "-5" "c.4748-5A>G" "r.spl?" "p.?" "" "0000565259" "00018301" "30" "4303" "-25" "4303" "-11" "c.4303-25_4303-11del" "r.(=)" "p.(=)" "" "0000565260" "00018301" "50" "4298" "0" "4298" "0" "c.4298G>A" "r.(?)" "p.(Arg1433Gln)" "" "0000565262" "00018301" "30" "3783" "0" "3783" "0" "c.3783G>A" "r.(?)" "p.(Pro1261=)" "" "0000565263" "00018301" "30" "3767" "0" "3767" "0" "c.3767A>T" "r.(?)" "p.(His1256Leu)" "" "0000565264" "00018301" "30" "3663" "0" "3663" "0" "c.3663T>G" "r.(?)" "p.(Asn1221Lys)" "" "0000565265" "00018301" "30" "3235" "0" "3235" "0" "c.3235A>G" "r.(?)" "p.(Ile1079Val)" "" "0000565267" "00018301" "30" "3048" "0" "3048" "0" "c.3048G>A" "r.(?)" "p.(Pro1016=)" "" "0000565269" "00018301" "50" "2804" "0" "2804" "0" "c.2804A>G" "r.(?)" "p.(His935Arg)" "" "0000565272" "00018301" "50" "2183" "0" "2183" "0" "c.2183A>C" "r.(?)" "p.(Asp728Ala)" "" "0000565273" "00018301" "10" "2172" "18" "2172" "18" "c.2172+18C>A" "r.(=)" "p.(=)" "" "0000565274" "00018301" "10" "2055" "7" "2055" "7" "c.2055+7C>T" "r.(=)" "p.(=)" "" "0000565276" "00018301" "30" "1929" "3" "1929" "3" "c.1929+3G>A" "r.spl?" "p.?" "" "0000565278" "00018301" "50" "1832" "0" "1832" "0" "c.1832T>C" "r.(?)" "p.(Leu611Pro)" "" "0000565279" "00018301" "30" "1665" "0" "1665" "0" "c.1665C>A" "r.(?)" "p.(Asn555Lys)" "" "0000565281" "00018301" "30" "1563" "0" "1563" "0" "c.1563T>C" "r.(?)" "p.(Ile521=)" "" "0000565282" "00018301" "30" "1423" "0" "1423" "0" "c.1423A>G" "r.(?)" "p.(Ser475Gly)" "" "0000565284" "00018301" "30" "1330" "0" "1330" "0" "c.1330G>A" "r.(?)" "p.(Gly444Arg)" "" "0000565285" "00018301" "30" "1306" "-16" "1306" "-16" "c.1306-16G>A" "r.(=)" "p.(=)" "" "0000565286" "00018301" "30" "1008" "-4" "1008" "-4" "c.1008-4G>T" "r.spl?" "p.?" "" "0000565287" "00018301" "30" "905" "0" "905" "0" "c.905A>C" "r.(?)" "p.(Gln302Pro)" "" "0000565288" "00018301" "10" "725" "0" "727" "0" "c.725_727dup" "r.(?)" "p.(Gly242dup)" "" "0000565289" "00018301" "10" "725" "0" "727" "0" "c.725_727dup" "r.(?)" "p.(Gly242dup)" "" "0000565290" "00018301" "10" "694" "-19" "694" "-19" "c.694-19C>T" "r.(=)" "p.(=)" "" "0000565291" "00018301" "30" "602" "0" "602" "0" "c.602C>G" "r.(?)" "p.(Thr201Ser)" "" "0000617234" "00018301" "30" "5916" "0" "5916" "0" "c.5916G>C" "r.(?)" "p.(Gln1972His)" "" "0000617235" "00018301" "50" "5143" "0" "5143" "0" "c.5143A>G" "r.(?)" "p.(Asn1715Asp)" "" "0000617239" "00018301" "50" "1963" "0" "1963" "0" "c.1963G>A" "r.(?)" "p.(Val655Met)" "" "0000617240" "00018301" "50" "19" "0" "19" "0" "c.19A>G" "r.(?)" "p.(Ile7Val)" "" "0000623883" "00018301" "30" "5850" "0" "5850" "0" "c.5850C>T" "r.(?)" "p.(Val1950=)" "" "0000623884" "00018301" "30" "5055" "0" "5055" "0" "c.5055A>G" "r.(?)" "p.(Leu1685=)" "" "0000623886" "00018301" "30" "2581" "8" "2581" "8" "c.2581+8C>T" "r.(=)" "p.(=)" "" "0000623887" "00018301" "50" "601" "0" "601" "0" "c.601A>T" "r.(?)" "p.(Thr201Ser)" "" "0000623888" "00018301" "50" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Ser197Asn)" "" "0000623889" "00018301" "50" "455" "0" "455" "0" "c.455T>G" "r.(?)" "p.(Phe152Cys)" "" "0000649854" "00018301" "50" "6189" "0" "6189" "0" "c.6189G>T" "r.(?)" "p.(Leu2063Phe)" "" "0000649855" "00018301" "30" "6038" "0" "6038" "0" "c.6038G>T" "r.(?)" "p.(Cys2013Phe)" "" "0000649856" "00018301" "10" "5060" "0" "5060" "0" "c.5060C>G" "r.(?)" "p.(Ser1687Cys)" "" "0000649857" "00018301" "10" "2886" "-9" "2886" "-9" "c.2886-9A>G" "r.(=)" "p.(=)" "" "0000649858" "00018301" "10" "2856" "0" "2856" "0" "c.2856A>G" "r.(=)" "p.(=)" "" "0000649859" "00018301" "10" "2055" "7" "2055" "7" "c.2055+7C>T" "r.(=)" "p.(=)" "" "0000649860" "00018301" "10" "1665" "0" "1665" "0" "c.1665C>A" "r.(?)" "p.(Asn555Lys)" "" "0000649861" "00018301" "30" "805" "0" "805" "0" "c.805T>C" "r.(?)" "p.(Phe269Leu)" "" "0000649862" "00018301" "10" "734" "0" "734" "0" "c.734A>G" "r.(?)" "p.(Lys245Arg)" "" "0000658426" "00018301" "50" "4117" "0" "4117" "0" "c.4117C>G" "r.(?)" "p.(Pro1373Ala)" "" "0000669452" "00018301" "30" "6038" "0" "6038" "0" "c.6038G>T" "r.(?)" "p.(Cys2013Phe)" "" "0000669453" "00018301" "10" "5060" "0" "5060" "0" "c.5060C>G" "r.(?)" "p.(Ser1687Cys)" "" "0000669454" "00018301" "10" "1665" "0" "1665" "0" "c.1665C>A" "r.(?)" "p.(Asn555Lys)" "" "0000669455" "00018301" "10" "734" "0" "734" "0" "c.734A>G" "r.(?)" "p.(Lys245Arg)" "" "0000681194" "00018301" "30" "4303" "-9" "4303" "-9" "c.4303-9C>A" "r.(=)" "p.(=)" "" "0000681195" "00018301" "30" "4014" "0" "4014" "0" "c.4014G>A" "r.(?)" "p.(Met1338Ile)" "" "0000681196" "00018301" "50" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Leu115Phe)" "" "0000726986" "00018301" "70" "5942" "0" "5945" "0" "c.5942_5945del" "r.(?)" "p.(Phe1981*)" "" "0000726987" "00018301" "50" "5924" "0" "5924" "0" "c.5924G>T" "r.(?)" "p.(Cys1975Phe)" "" "0000726988" "00018301" "30" "5883" "0" "5883" "0" "c.5883G>A" "r.(?)" "p.(Leu1961=)" "" "0000726989" "00018301" "30" "5179" "0" "5179" "0" "c.5179G>A" "r.(?)" "p.(Val1727Ile)" "" "0000726990" "00018301" "90" "3998" "0" "3998" "0" "c.3998T>G" "r.(?)" "p.(Leu1333*)" "" "0000808565" "00018301" "30" "6153" "8" "6153" "8" "c.6153+8C>T" "r.(=)" "p.(=)" "" "0000808566" "00018301" "50" "3596" "0" "3596" "0" "c.3596T>C" "r.(?)" "p.(Ile1199Thr)" "" "0000808567" "00018301" "30" "2298" "0" "2298" "0" "c.2298G>A" "r.(?)" "p.(Val766=)" "" "0000808568" "00018301" "30" "2237" "0" "2237" "0" "c.2237A>C" "r.(?)" "p.(Asp746Ala)" "" "0000808569" "00018301" "50" "630" "0" "630" "0" "c.630G>C" "r.(?)" "p.(Leu210Phe)" "" "0000808570" "00018301" "50" "301" "0" "301" "0" "c.301C>A" "r.(?)" "p.(Leu101Met)" "" "0000855352" "00018301" "30" "2680" "0" "2680" "0" "c.2680T>C" "r.(?)" "p.(Cys894Arg)" "" "0000865746" "00018301" "50" "2030" "0" "2030" "0" "c.2030T>G" "r.(?)" "p.(Phe677Cys)" "" "0000865747" "00018301" "50" "1305" "0" "1305" "0" "c.1305G>C" "r.(?)" "p.(Met435Ile)" "" "0000865748" "00018301" "30" "561" "0" "561" "0" "c.561C>A" "r.(?)" "p.(Val187=)" "" "0000877872" "00018301" "70" "4186" "0" "4186" "0" "c.4186delC" "r.(?)" "p.(Glu1397Lysfs*7)" "18" "0000877873" "00018301" "70" "4186" "0" "4186" "0" "c.4186delC" "r.(?)" "p.(Glu1397Lysfs*7)" "18" "0000877881" "00018301" "70" "2594" "0" "2594" "0" "c.2594A>G" "r.(?)" "p.(His865Arg)" "18" "0000877882" "00018301" "70" "2594" "0" "2594" "0" "c.2594A>G" "r.(?)" "p.(His865Arg)" "18" "0000894625" "00018301" "50" "2804" "0" "2804" "0" "c.2804A>G" "r.(?)" "p.(His935Arg)" "" "0000894626" "00018301" "30" "905" "0" "905" "0" "c.905A>C" "r.(?)" "p.(Gln302Pro)" "" "0000920689" "00018301" "90" "2953" "0" "2953" "0" "c.2953A>G" "r.(?)" "p.(Arg985Gly)" "" "0000926772" "00018301" "10" "6038" "0" "6038" "0" "c.6038G>T" "r.(?)" "p.(Cys2013Phe)" "" "0000926773" "00018301" "30" "5143" "0" "5143" "0" "c.5143A>G" "r.(?)" "p.(Asn1715Asp)" "" "0000983103" "00018301" "30" "4032" "9" "4032" "9" "c.4032+9G>A" "r.(=)" "p.(=)" "" "0000983104" "00018301" "50" "3338" "0" "3338" "0" "c.3338G>A" "r.(?)" "p.(Cys1113Tyr)" "" "0000983105" "00018301" "50" "2582" "-1" "2582" "-1" "c.2582-1G>A" "r.spl?" "p.?" "" "0000983106" "00018301" "50" "905" "0" "905" "0" "c.905A>C" "r.(?)" "p.(Gln302Pro)" "" "0000983107" "00018301" "50" "98" "0" "98" "0" "c.98T>C" "r.(?)" "p.(Leu33Ser)" "" "0001004236" "00018301" "50" "4253" "0" "4253" "0" "c.4253T>C" "r.(?)" "p.(Val1418Ala)" "" "0001004237" "00018301" "70" "2056" "-2" "2056" "-2" "c.2056-2A>G" "r.spl?" "p.?" "" "0001004238" "00018301" "50" "803" "0" "803" "0" "c.803A>G" "r.(?)" "p.(Asn268Ser)" "" "0001027142" "00018301" "50" "6445" "0" "6445" "0" "c.6445G>A" "r.(?)" "p.(Ala2149Thr)" "" "0001027143" "00018301" "50" "6080" "0" "6080" "0" "c.6080C>T" "r.(?)" "p.(Thr2027Met)" "" "0001027144" "00018301" "50" "4306" "0" "4306" "0" "c.4306G>T" "r.(?)" "p.(Ala1436Ser)" "" "0001042510" "00018301" "50" "5500" "0" "5500" "0" "c.5500A>G" "r.(?)" "p.(Asn1834Asp)" "" "0001042511" "00018301" "30" "4653" "9" "4653" "9" "c.4653+9A>G" "r.(=)" "p.(=)" "" "0001042512" "00018301" "50" "3409" "0" "3409" "0" "c.3409A>G" "r.(?)" "p.(Thr1137Ala)" "" "0001042513" "00018301" "30" "2821" "0" "2821" "0" "c.2821G>C" "r.(?)" "p.(Val941Leu)" "" "0001056369" "00018301" "50" "2377" "0" "2377" "0" "c.2377C>T" "r.(?)" "p.(Arg793Cys)" "" "0001056370" "00018301" "50" "1654" "0" "1654" "0" "c.1654T>C" "r.(?)" "p.(Cys552Arg)" "" "0001056371" "00018301" "50" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Arg318Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000050483" "0000079672" "0000050513" "0000079493" "0000050513" "0000079678" "0000057213" "0000087505" "0000057213" "0000087506" "0000150992" "0000244148" "0000293165" "0000649854" "0000293166" "0000649855" "0000293167" "0000649856" "0000293168" "0000649857" "0000293169" "0000649858" "0000293170" "0000649859" "0000293171" "0000649860" "0000293172" "0000649861" "0000293173" "0000649862" "0000305764" "0000669452" "0000305765" "0000669453" "0000305766" "0000669454" "0000305767" "0000669455" "0000418129" "0000877872" "0000418129" "0000877881" "0000418130" "0000877873" "0000418130" "0000877882" "0000434812" "0000920689"