### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PCYT1A) # 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}}" "PCYT1A" "phosphate cytidylyltransferase 1, choline, alpha" "3" "q29" "unknown" "NC_000003.11" "UD_136090024862" "" "https://www.LOVD.nl/PCYT1A" "" "1" "8754" "5130" "123695" "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/PCYT1A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-12-16 09:50:48" "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}}" "00015851" "PCYT1A" "phosphate cytidylyltransferase 1, choline, alpha" "001" "NM_005017.2" "" "NP_005008.2" "" "" "" "-173" "1410" "1104" "196014584" "195965253" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "02804" "SMDCRD" "dysplasia, spondylometaphyseal, with cone-rod dystrophy (SMDCRD)" "AR" "608940" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-12-10 14:05:02" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05233" "-" "lipodystrophy, congenital, and fatty liver disease" "" "" "" "" "" "00006" "2017-03-05 16:17:19" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PCYT1A" "02804" "PCYT1A" "05233" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00091682" "" "" "" "1" "" "01848" "{PMID:Testa 2017:28272537}, {DOI:Testa 2017:10.1038/ejhg.2017.23}, {PMID:Di Iorio 2017:29053603}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "no" "Italy" "" "0" "" "" "" "Fam1PatII1;Pat29" "00091683" "" "" "" "2" "" "01848" "{PMID:Testa 2017:28272537}, {DOI:Testa 2017:10.1038/ejhg.2017.23}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "" "Italy" "" "0" "" "" "" "28272537-Fam2Pata" "00095884" "" "" "" "1" "" "00006" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}" "3-generation family, 1 affected, unaffected carrier parents" "F" "no" "" "" "0" "" "" "Europe, north" "" "00095885" "" "" "" "1" "" "00006" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}" "2-generation family, 1 affected, unaffected carrier parents" "M" "no" "" "" "0" "" "" "Europe, north" "" "00095886" "" "" "" "2" "" "00006" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}" "2-generation family, 2 affecteds (F, M), unaffected carrier parents/sib, Pat1" "F" "no" "Greece" "" "0" "" "" "" "" "00095887" "" "" "" "3" "" "00006" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}" "2-generation family, 3 affecteds (2F, M), unaffected carrier parents/sib, Fam4Pat4" "F" "no" "" "" "0" "" "" "Europe, north" "" "00095888" "" "" "00095887" "1" "" "00006" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}" "Fam4Pat5" "F" "no" "" "" "0" "" "" "Europe, north" "" "00095889" "" "" "00095887" "1" "" "00006" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}" "Fam4Pat6" "M" "no" "" "" "0" "" "" "Europe, north" "" "00095890" "" "" "" "1" "" "00006" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}" "2-generation family, 1 affected, unaffected carrier parents/sib" "M" "no" "Japan" "" "0" "" "" "" "" "00095891" "" "" "" "1" "" "00006" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}" "2-generation family, 1 affected, unaffected carrier parents" "M" "no" "Korea" "" "0" "" "" "" "" "00095892" "" "" "" "2" "" "00006" "{PMID:Yamamoto 2014:24387991}, {DOI:Yamamoto 2014:10.1016/j.ajhg.2013.11.022}" "4-generation family, affected brother/sister, unaffected carrier parents, PatIV4" "M" "yes" "Japan" "" "0" "" "" "" "" "00095893" "" "" "00095892" "1" "" "00006" "{PMID:Yamamoto 2014:24387991}, {DOI:Yamamoto 2014:10.1016/j.ajhg.2013.11.022}" "PatIV5" "F" "yes" "Japan" "" "0" "" "" "" "" "00095894" "" "" "" "2" "" "00006" "{PMID:Yamamoto 2014:24387991}, {DOI:Yamamoto 2014:10.1016/j.ajhg.2013.11.022}" "5-generation family, 2 affecteds, unaffected carrier parents/relatives, PatV2" "F" "yes" "Japan" "" "0" "" "" "" "" "00095895" "" "" "00095894" "1" "" "00006" "{PMID:Yamamoto 2014:24387991}, {DOI:Yamamoto 2014:10.1016/j.ajhg.2013.11.022}" "PatV5" "F" "yes" "Japan" "" "0" "" "" "" "" "00095896" "" "" "" "1" "" "00006" "{PMID:Payne 2014:24889630}, {DOI:Payne 2014:10.1073/pnas.1408523111}" "2-generation family, 1 affected, unaffected carrier parents" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00095897" "" "" "" "1" "" "00006" "{PMID:Payne 2014:24889630}, {DOI:Payne 2014:10.1073/pnas.1408523111}" "2-generation family, 1 affected, unaffected carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00132071" "" "" "" "1" "" "01396" "" "" "M" "yes" "Brazil" ">06y" "0" "" "" "" "1" "00306156" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00332449" "" "" "" "1" "" "00000" "{PMID:Di Iorio 2017:29053603}" "" "" "" "Italy" "" "0" "" "" "" "Pat6" "00332450" "" "" "" "1" "" "00000" "{PMID:Di Iorio 2017:29053603}" "" "" "" "Italy" "" "0" "" "" "" "Pat7" "00358973" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71583" "00389184" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 150, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "468" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00091682" "00381" "00091683" "00381" "00095884" "02804" "00095885" "02804" "00095886" "02804" "00095887" "02804" "00095888" "02804" "00095889" "02804" "00095890" "02804" "00095891" "02804" "00095892" "02804" "00095893" "02804" "00095894" "02804" "00095895" "02804" "00095896" "05233" "00095897" "05233" "00132071" "02804" "00306156" "00198" "00332449" "04214" "00332450" "04214" "00358973" "04214" "00389184" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00381, 02804, 04214, 05233 ## Count = 22 "{{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}}" "0000074174" "02804" "00095884" "00006" "Familial, autosomal recessive" "" "pigmentary maculopathy (HP:0008002), 13y6m cone-rod dystrophy (HP:0000548), short stature (HP:0003502), bowing long bones (HP:0006487), platyspondyly (HP:0000926), metaphyseal irregularities (HP:0003025), metaphyseal cupping (HP:0003021), decreased visual acuity (HP:0007663) - best coorect 20/100" "7m" "" "" "" "" "" "" "" "" "" "" "0000074175" "02804" "00095885" "00006" "Familial, autosomal recessive" "" "pigmentary maculopathy (HP:0008002), 17m cone-rod dystrophy (HP:0000548), short stature (HP:0003502), bowing long bones (HP:0006487), platyspondyly (HP:0000926), metaphyseal irregularities (HP:0003025), metaphyseal cupping (HP:0003021), decreased visual acuity (HP:0007663) - best coorect 20/180" "1y1m" "" "" "" "" "" "" "" "" "" "" "0000074176" "02804" "00095886" "00006" "Familial, autosomal recessive" "" "pigmentary maculopathy (HP:0008002), 51y cone-rod dystrophy (HP:0000548), short stature (HP:0003502), bowing long bones (HP:0006487), platyspondyly (HP:0000926), metaphyseal irregularities (HP:0003025), metaphyseal cupping (HP:0003021), decreased visual acuity (HP:0007663) - best coorect 8/80" "51y" "" "" "" "" "" "" "" "" "" "" "0000074177" "02804" "00095887" "00006" "Familial, autosomal recessive" "" "pigmentary maculopathy (HP:0008002), 36m cone-rod dystrophy (HP:0000548), bowing long bones (HP:0006487), platyspondyly (HP:0000926), metaphyseal irregularities (HP:0003025), metaphyseal cupping (HP:0003021), decreased visual acuity (HP:0007663) - best coorect 5/250" "36m" "" "" "" "" "" "" "" "" "" "" "0000074178" "02804" "00095888" "00006" "Familial, autosomal recessive" "" "pigmentary maculopathy (HP:0008002), 27m cone-rod dystrophy (HP:0000548), short stature (HP:0003502), bowing long bones (HP:0006487), platyspondyly (HP:0000926), metaphyseal irregularities (HP:0003025), metaphyseal cupping (HP:0003021), decreased visual acuity (HP:0007663) - best coorect 20/250" "27m" "" "" "" "" "" "" "" "" "" "" "0000074179" "02804" "00095889" "00006" "Familial, autosomal recessive" "" "pigmentary maculopathy (HP:0008002), bowing long bones (HP:0006487), platyspondyly (HP:0000926), metaphyseal irregularities (HP:0003025), metaphyseal cupping (HP:0003021), decreased visual acuity (HP:0007663) - best coorect 10/250" "2y" "" "" "" "" "" "" "" "" "" "" "0000074180" "02804" "00095890" "00006" "Familial, autosomal recessive" "" "pigmentary maculopathy (HP:0008002), 11y cone-rod dystrophy (HP:0000548), short stature (HP:0003502), bowing long bones (HP:0006487), platyspondyly (HP:0000926), metaphyseal irregularities (HP:0003025), metaphyseal cupping (HP:0003021)" "6m" "" "" "" "" "" "" "" "" "" "" "0000074181" "02804" "00095891" "00006" "Familial, autosomal recessive" "" "pigmentary maculopathy (HP:0008002), cone-rod dystrophy (HP:0000548), short stature (HP:0003502), bowing long bones (HP:0006487), platyspondyly (HP:0000926), metaphyseal irregularities (HP:0003025), metaphyseal cupping (HP:0003021)" "23m" "" "" "" "" "" "" "" "" "" "" "0000074182" "02804" "00095892" "00006" "Familial, autosomal recessive" "" "see paper; …, onset infancy" "" "" "" "" "" "" "" "" "" "" "" "0000074183" "02804" "00095893" "00006" "Familial, autosomal recessive" "" "see paper; …, onset infancy" "" "" "" "" "" "" "" "" "" "" "" "0000074184" "02804" "00095894" "00006" "Familial, autosomal recessive" "" "see paper; …" "11y" "" "" "" "" "" "" "" "" "" "" "0000074185" "02804" "00095895" "00006" "Familial, autosomal recessive" "" "see paper; …" "14y" "" "" "" "" "" "" "" "" "" "" "0000078828" "05233" "00095896" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000078829" "05233" "00095897" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000104274" "02804" "00132071" "01396" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155594" "00381" "00091682" "00006" "Familial, autosomal recessive" "" "see paper; .born at term, normal length, weight,head circumference; 2y-night-blindness, reduced visual\r\nacuity, ..." "" "" "" "" "" "" "" "" "" "" "" "0000155595" "00381" "00091683" "00006" "Familial, autosomal recessive" "" "see paper; born at term, normal\r\nheight, weight, head circumference, normal growth and neurocognitive\r\ndevelopment; 8m-nystagmus, visual function progressively decreased, ..." "" "" "" "" "" "" "" "" "" "" "" "0000231996" "00198" "00306156" "01164" "Unknown" "" "Short stature (HP:0004322)" "" "" "" "" "" "" "" "" "" "" "" "0000250633" "04214" "00332449" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "LCA" "" "0000250634" "04214" "00332450" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "LCA" "" "0000254271" "04214" "00358973" "00000" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000282725" "04214" "00389184" "00000" "Familial, autosomal recessive" "18y" "age at genetic diagnosis mentioned" "" "18y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000091825" "00091682" "1" "01848" "01848" "2016-12-13 11:12:33" "" "" "SEQ-NG" "DNA" "" "" "0000091826" "00091683" "1" "01848" "01848" "2016-12-13 11:26:27" "" "" "SEQ-NG" "DNA" "" "" "0000096285" "00095884" "1" "00006" "00006" "2017-01-21 16:41:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000096286" "00095885" "1" "00006" "00006" "2017-01-21 16:41:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000096287" "00095886" "1" "00006" "00006" "2017-01-21 16:41:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000096288" "00095887" "1" "00006" "00006" "2017-01-21 16:41:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000096289" "00095888" "1" "00006" "00006" "2017-01-21 16:41:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000096290" "00095889" "1" "00006" "00006" "2017-01-21 16:41:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000096291" "00095890" "1" "00006" "00006" "2017-01-21 16:41:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000096292" "00095891" "1" "00006" "00006" "2017-01-21 16:41:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000096293" "00095892" "1" "00006" "00006" "2017-01-21 17:01:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000096294" "00095893" "1" "00006" "00006" "2017-01-21 17:01:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000096295" "00095894" "1" "00006" "00006" "2017-01-21 17:01:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000096296" "00095895" "1" "00006" "00006" "2017-01-21 17:01:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000096297" "00095896" "1" "00006" "00006" "2017-01-21 17:22:26" "00006" "2017-01-21 17:27:44" "SEQ;SEQ-NG" "DNA" "" "" "0000096298" "00095897" "1" "00006" "00006" "2017-01-21 17:22:26" "00006" "2017-01-21 17:26:59" "SEQ;SEQ-NG" "DNA" "" "" "0000132910" "00132071" "1" "01396" "01396" "2017-10-18 18:36:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000307288" "00306156" "1" "01164" "01164" "2020-07-09 15:59:01" "01848" "2020-07-09 16:51:48" "SEQ-NG-S" "DNA" "" "" "0000333673" "00332449" "1" "00000" "00006" "2021-02-19 15:15:03" "" "" "SEQ-NG" "DNA" "" "150-gene panel" "0000333674" "00332450" "1" "00000" "00006" "2021-02-19 15:15:03" "" "" "SEQ-NG" "DNA" "" "150-gene panel" "0000360210" "00358973" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000390427" "00389184" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{geneid}}" "0000096285" "PCYT1A" "0000096286" "PCYT1A" "0000096287" "PCYT1A" "0000096288" "PCYT1A" "0000096289" "PCYT1A" "0000096290" "PCYT1A" "0000096291" "PCYT1A" "0000096292" "PCYT1A" "0000096293" "PCYT1A" "0000096294" "PCYT1A" "0000096295" "PCYT1A" "0000096296" "PCYT1A" "0000096297" "BRF1" "0000096297" "GEMIN5" "0000096297" "PCYT1A" "0000096298" "PCYT1A" "0000132910" "PCYT1A" "0000333673" "PCYT1A" "0000333674" "PCYT1A" "0000390427" "PCYT1A" ## 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 = 60 "{{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}}" "0000149994" "21" "70" "3" "195975135" "195975135" "subst" "8.1213E-6" "01848" "PCYT1A_000002" "g.195975135C>T" "" "{PMID:Testa 2017:28272537}, {DOI:Testa 2017:10.1038/ejhg.2017.23}, {PMID:DiIorio 2017:29053603}" "" "" "" "Germline" "yes" "" "0" "" "" "g.196248264C>T" "" "likely pathogenic (recessive)" "" "0000149995" "11" "70" "3" "195966417" "195966417" "subst" "0" "01848" "PCYT1A_000003" "g.195966417C>T" "" "{PMID:Testa 2017:28272537}, {DOI:Testa 2017:10.1038/ejhg.2017.23}, {PMID:DiIorio 2017:29053603}" "" "" "" "De novo" "yes" "" "0" "" "" "g.196239546C>T" "" "likely pathogenic (recessive)" "" "0000149996" "21" "70" "3" "195975135" "195975135" "subst" "8.1213E-6" "01848" "PCYT1A_000002" "g.195975135C>T" "" "{PMID:Testa 2017:28272537}, {DOI:Testa 2017:10.1038/ejhg.2017.23}" "" "" "" "Germline" "yes" "" "0" "" "" "g.196248264C>T" "" "likely pathogenic (recessive)" "" "0000149997" "11" "70" "3" "195966468" "195966468" "subst" "4.06266E-6" "01848" "PCYT1A_000001" "g.195966468G>A" "" "{PMID:Testa 2017:28272537}, {DOI:Testa 2017:10.1038/ejhg.2017.23}" "" "" "" "Germline" "" "" "0" "" "" "g.196239597G>A" "" "likely pathogenic (recessive)" "" "0000158266" "2" "90" "3" "195975117" "195975117" "subst" "0" "00006" "PCYT1A_000004" "g.195975117C>T" "rs587777191" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}, {OMIM123695:0003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.196248246C>T" "" "pathogenic (recessive)" "" "0000158267" "2" "90" "3" "195975117" "195975117" "subst" "0" "00006" "PCYT1A_000004" "g.195975117C>T" "rs587777191" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}, {OMIM123695:0003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.196248246C>T" "" "pathogenic (recessive)" "" "0000158268" "2" "90" "3" "195975117" "195975117" "subst" "0" "00006" "PCYT1A_000004" "g.195975117C>T" "rs587777191" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}, {OMIM123695:0003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.196248246C>T" "" "pathogenic (recessive)" "" "0000158269" "3" "90" "3" "195975116" "195975116" "subst" "4.06072E-6" "00006" "PCYT1A_000005" "g.195975116G>A" "rs587777189" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}, {OMIM123695:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.196248245G>A" "" "pathogenic (recessive)" "" "0000158270" "21" "90" "3" "195975116" "195975116" "subst" "4.06072E-6" "00006" "PCYT1A_000005" "g.195975116G>A" "rs587777189" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}, {OMIM123695:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.196248245G>A" "" "pathogenic (recessive)" "" "0000158271" "3" "90" "3" "195975116" "195975116" "subst" "4.06072E-6" "00006" "PCYT1A_000005" "g.195975116G>A" "rs587777189" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}, {OMIM123695:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.196248245G>A" "" "pathogenic (recessive)" "" "0000158272" "21" "90" "3" "195974339" "195974339" "subst" "0" "00006" "PCYT1A_000006" "g.195974339C>T" "rs587777194" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}, {OMIM123695:0007}" "" "" "" "Germline" "" "" "0" "" "" "g.196247468C>T" "" "pathogenic (recessive)" "" "0000158273" "11" "90" "3" "195974276" "195974276" "subst" "4.0619E-6" "00006" "PCYT1A_000007" "g.195974276G>C" "rs587777190" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}, {OMIM123695:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.196247405G>C" "" "pathogenic (recessive)" "" "0000158274" "11" "90" "3" "195968956" "195968956" "subst" "0" "00006" "PCYT1A_000008" "g.195968956A>G" "rs587777195" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}, {OMIM123695:0008}" "" "" "" "Germline" "" "" "0" "" "" "g.196242085A>G" "" "pathogenic (recessive)" "" "0000158275" "11" "90" "3" "195968858" "195968858" "subst" "0" "00006" "PCYT1A_000009" "g.195968858C>G" "rs540053239" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}, {OMIM123695:0006}" "" "" "" "Germline" "" "" "0" "" "" "g.196241987C>G" "" "pathogenic (recessive)" "" "0000158276" "1" "90" "3" "195966468" "195966468" "subst" "4.06266E-6" "00006" "PCYT1A_000001" "g.195966468G>A" "rs587777192" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}, {OMIM123695:0004}" "" "" "" "Germline" "yes" "" "0" "" "" "g.196239597G>A" "" "pathogenic (recessive)" "" "0000158277" "1" "90" "3" "195966468" "195966468" "subst" "4.06266E-6" "00006" "PCYT1A_000001" "g.195966468G>A" "rs587777192" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}, {OMIM123695:0004}" "" "" "" "Germline" "yes" "" "0" "" "" "g.196239597G>A" "" "pathogenic (recessive)" "" "0000158278" "1" "90" "3" "195966468" "195966468" "subst" "4.06266E-6" "00006" "PCYT1A_000001" "g.195966468G>A" "rs587777192" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}, {OMIM123695:0004}" "" "" "" "Germline" "yes" "" "0" "" "" "g.196239597G>A" "" "pathogenic (recessive)" "" "0000158279" "21" "90" "3" "195965677" "195965677" "del" "0" "00006" "PCYT1A_000011" "g.195965677del" "rs587777193" "{PMID:Hoover-Fong 2014:24387990}, {DOI:Hoover-Fong 2014:10.1016/j.ajhg.2013.11.018}, {OMIM123695:0005}" "" "" "" "Germline" "" "" "0" "" "" "g.196238806del" "" "pathogenic (recessive)" "" "0000158280" "3" "90" "3" "195974339" "195974339" "subst" "0" "00006" "PCYT1A_000006" "g.195974339C>T" "rs587777194" "{PMID:Yamamoto 2014:24387991}, {DOI:Yamamoto 2014:10.1016/j.ajhg.2013.11.022}, {OMIM123695:0007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.196247468C>T" "" "pathogenic (recessive)" "" "0000158281" "3" "90" "3" "195974339" "195974339" "subst" "0" "00006" "PCYT1A_000006" "g.195974339C>T" "rs587777194" "{PMID:Yamamoto 2014:24387991}, {DOI:Yamamoto 2014:10.1016/j.ajhg.2013.11.022}, {OMIM123695:0007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.196247468C>T" "" "pathogenic (recessive)" "" "0000158282" "3" "90" "3" "195965695" "195965695" "dup" "0" "00006" "PCYT1A_000012" "g.195965695dup" "rs587777196" "{PMID:Yamamoto 2014:24387991}, {DOI:Yamamoto 2014:10.1016/j.ajhg.2013.11.022}, {OMIM123695:0009}" "" "" "" "Germline" "yes" "" "0" "" "" "g.196238824dup" "" "pathogenic (recessive)" "" "0000158283" "3" "90" "3" "195965695" "195965695" "dup" "0" "00006" "PCYT1A_000012" "g.195965695dup" "rs587777196" "{PMID:Yamamoto 2014:24387991}, {DOI:Yamamoto 2014:10.1016/j.ajhg.2013.11.022}, {OMIM123695:0009}" "" "" "" "Germline" "yes" "" "0" "" "" "g.196238824dup" "" "pathogenic (recessive)" "" "0000158284" "11" "90" "3" "195966479" "195966481" "del" "0" "00006" "PCYT1A_000010" "g.195966479_195966481del" "" "{PMID:Payne 2014:24889630}, {DOI:Payne 2014:10.1073/pnas.1408523111}" "" "" "" "Germline" "" "" "0" "" "" "g.196239608_196239610del" "" "pathogenic (recessive)" "" "0000158285" "11" "90" "3" "195966479" "195966481" "del" "0" "00006" "PCYT1A_000010" "g.195966479_195966481del" "" "{PMID:Payne 2014:24889630}, {DOI:Payne 2014:10.1073/pnas.1408523111}" "" "" "" "Germline" "" "" "0" "" "" "g.196239608_196239610del" "" "pathogenic (recessive)" "" "0000158286" "21" "90" "3" "195974300" "195974300" "subst" "0" "00006" "PCYT1A_000013" "g.195974300C>T" "" "{PMID:Payne 2014:24889630}, {DOI:Payne 2014:10.1073/pnas.1408523111}" "" "" "" "Germline" "" "" "0" "" "" "g.196247429C>T" "" "pathogenic (recessive)" "" "0000158287" "21" "90" "3" "195965671" "195965671" "del" "0" "00006" "PCYT1A_000014" "g.195965671del" "" "{PMID:Payne 2014:24889630}, {DOI:Payne 2014:10.1073/pnas.1408523111}" "" "195965666delG" "" "Germline" "" "" "0" "" "" "g.196238800del" "" "pathogenic (recessive)" "" "0000222092" "3" "70" "3" "195975116" "195975116" "subst" "4.06072E-6" "01396" "PCYT1A_000005" "g.195975116G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.196248245G>A" "" "likely pathogenic (recessive)" "" "0000293589" "0" "50" "3" "195965653" "195965653" "subst" "0.000436401" "02330" "PCYT1A_000015" "g.195965653G>A" "" "" "" "PCYT1A(NM_005017.4):c.1010C>T (p.P337L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196238782G>A" "" "VUS" "" "0000293590" "0" "10" "3" "195984764" "195984764" "subst" "0.000234697" "02330" "PCYT1A_000018" "g.195984764G>A" "" "" "" "PCYT1A(NM_005017.4):c.118-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196257893G>A" "" "benign" "" "0000293591" "0" "10" "3" "195974401" "195974401" "subst" "0.0011614" "02330" "PCYT1A_000017" "g.195974401C>G" "" "" "" "PCYT1A(NM_005017.4):c.335-12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196247530C>G" "" "benign" "" "0000293592" "0" "30" "3" "195997345" "195997345" "subst" "0.0010152" "02330" "PCYT1A_000019" "g.195997345C>G" "" "" "" "PCYT1A(NM_005017.4):c.58G>C (p.G20R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196270474C>G" "" "likely benign" "" "0000293593" "0" "30" "3" "195968820" "195968820" "subst" "0.00089752" "02330" "PCYT1A_000016" "g.195968820T>C" "" "" "" "PCYT1A(NM_001312673.2):c.707A>G (p.N236S), PCYT1A(NM_005017.4):c.707A>G (p.N236S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196241949T>C" "" "likely benign" "" "0000518870" "0" "30" "3" "195965667" "195965667" "subst" "0.000476454" "02330" "PCYT1A_000020" "g.195965667G>C" "" "" "" "PCYT1A(NM_001312673.2):c.996C>G (p.P332=), PCYT1A(NM_005017.4):c.996C>G (p.P332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196238796G>C" "" "likely benign" "" "0000518871" "0" "30" "3" "195965703" "195965703" "subst" "1.48528E-5" "01943" "PCYT1A_000021" "g.195965703G>A" "" "" "" "PCYT1A(NM_005017.3):c.960C>T (p.P320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196238832G>A" "" "likely benign" "" "0000518872" "0" "10" "3" "195966472" "195966472" "subst" "0" "02330" "PCYT1A_000022" "g.195966472C>T" "" "" "" "PCYT1A(NM_005017.4):c.843G>A (p.K281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196239601C>T" "" "benign" "" "0000518873" "0" "10" "3" "195969421" "195969421" "subst" "0.00023166" "02330" "PCYT1A_000023" "g.195969421C>G" "" "" "" "PCYT1A(NM_005017.4):c.565+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196242550C>G" "" "benign" "" "0000518874" "0" "10" "3" "195974376" "195974376" "subst" "0.000235518" "02330" "PCYT1A_000024" "g.195974376C>T" "" "" "" "PCYT1A(NM_005017.4):c.348G>A (p.E116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196247505C>T" "" "benign" "" "0000518875" "0" "30" "3" "195974393" "195974393" "subst" "0" "01804" "PCYT1A_000025" "g.195974393G>A" "" "" "" "PCYT1A(NM_005017.2):c.335-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196247522G>A" "" "likely benign" "" "0000518877" "0" "50" "3" "195997297" "195997297" "subst" "0.0003005" "02330" "PCYT1A_000027" "g.195997297G>A" "" "" "" "PCYT1A(NM_005017.4):c.106C>T (p.R36C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196270426G>A" "" "VUS" "" "0000608463" "0" "30" "3" "195965680" "195965680" "subst" "0.000298789" "01943" "PCYT1A_000028" "g.195965680C>T" "" "" "" "PCYT1A(NM_001312673.2):c.983G>A (p.R328H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196238809C>T" "" "likely benign" "" "0000608464" "0" "50" "3" "195975087" "195975087" "subst" "7.30964E-5" "01804" "PCYT1A_000029" "g.195975087T>C" "" "" "" "PCYT1A(NM_005017.2):c.325A>G (p.(Ile109Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196248216T>C" "" "VUS" "" "0000608465" "0" "30" "3" "195975091" "195975091" "subst" "0" "01943" "PCYT1A_000030" "g.195975091G>A" "" "" "" "PCYT1A(NM_001312673.2):c.321C>T (p.Y107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196248220G>A" "" "likely benign" "" "0000673890" "3" "90" "3" "195975116" "195975116" "subst" "4.06072E-6" "01164" "PCYT1A_000005" "g.195975116G>A" "" "Walters et al. 2004. Am J Med Genet 129: 265; Hoover-Fong et al. 2014. Am J Hum Genet 94: 105; Cornell et al. 2018. J Biol Chem 294: 1490" "" "" "ACMG grading: PS3,PM2,PM3,PP3" "Germline" "" "rs587777189" "0" "" "" "" "" "pathogenic" "ACMG" "0000676918" "0" "30" "3" "195965667" "195965667" "subst" "0.000476454" "01943" "PCYT1A_000020" "g.195965667G>C" "" "" "" "PCYT1A(NM_001312673.2):c.996C>G (p.P332=), PCYT1A(NM_005017.4):c.996C>G (p.P332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676919" "0" "30" "3" "195965679" "195965679" "subst" "7.45136E-5" "01943" "PCYT1A_000031" "g.195965679G>A" "" "" "" "PCYT1A(NM_001312673.2):c.984C>T (p.R328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689009" "0" "30" "3" "195968820" "195968820" "subst" "0.00089752" "01943" "PCYT1A_000016" "g.195968820T>C" "" "" "" "PCYT1A(NM_001312673.2):c.707A>G (p.N236S), PCYT1A(NM_005017.4):c.707A>G (p.N236S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719319" "0" "30" "3" "195974246" "195974246" "subst" "0.00113833" "01804" "PCYT1A_000032" "g.195974246C>T" "" "" "" "PCYT1A(NM_005017.2):c.478G>A (p.(Glu160Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000731422" "1" "70" "3" "195966468" "195966468" "subst" "4.06266E-6" "00000" "PCYT1A_000001" "g.195966468G>A" "" "{PMID:DiIorio 2017:29053603}" "" "" "" "Germline" "" "" "0" "" "" "g.196239597G>A" "" "likely pathogenic (recessive)" "" "0000731423" "1" "70" "3" "195966468" "195966468" "subst" "4.06266E-6" "00000" "PCYT1A_000001" "g.195966468G>A" "" "{PMID:DiIorio 2017:29053603}" "" "" "" "Germline" "" "" "0" "" "" "g.196239597G>A" "" "likely pathogenic (recessive)" "" "0000731446" "2" "70" "3" "195975135" "195975135" "subst" "8.1213E-6" "00000" "PCYT1A_000002" "g.195975135C>T" "" "{PMID:DiIorio 2017:29053603}" "" "" "" "Germline" "" "" "0" "" "" "g.196248264C>T" "" "likely pathogenic (recessive)" "" "0000731447" "2" "70" "3" "195975135" "195975135" "subst" "8.1213E-6" "00000" "PCYT1A_000002" "g.195975135C>T" "" "{PMID:DiIorio 2017:29053603}" "" "" "" "Germline" "" "" "0" "" "" "g.196248264C>T" "" "likely pathogenic (recessive)" "" "0000760071" "0" "50" "3" "195984654" "195984654" "subst" "0" "00000" "PCYT1A_000033" "g.195984654C>T" "" "{PMID:Tiwari 2016:27353947}" "" "NM_001312673.1:c.217+5G>A" "" "Germline" "" "" "0" "" "" "g.196257783C>T" "" "VUS" "" "0000801129" "0" "50" "3" "195965675" "195965675" "subst" "0.000230489" "01804" "PCYT1A_000034" "g.195965675G>A" "" "" "" "PCYT1A(NM_001312673.1):c.988C>T (p.(Pro330Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801130" "0" "30" "3" "195966485" "195966485" "subst" "2.4369E-5" "01804" "PCYT1A_000035" "g.195966485T>C" "" "" "" "PCYT1A(NM_005017.2):c.830A>G (p.(Lys277Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000819772" "1" "70" "3" "195965695" "195965695" "dup" "0" "00000" "PCYT1A_000012" "g.195965695dup" "" "{PMID:Weisschuh 2020:32531858}" "" "PCYT1A, variant 1: c.968dup/p.S323Rfs*38, variant 2: c.471C>G/p.F157L" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.196238824dup" "" "likely pathogenic" "" "0000820715" "1" "70" "3" "195974253" "195974253" "subst" "0" "00000" "PCYT1A_000036" "g.195974253G>C" "" "{PMID:Weisschuh 2020:32531858}" "" "PCYT1A, variant 1: c.968dup/p.S323Rfs*38, variant 2: c.471C>G/p.F157L" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.196247382G>C" "" "likely pathogenic" "" "0000885697" "0" "70" "3" "195974276" "195974276" "subst" "4.0619E-6" "01804" "PCYT1A_000007" "g.195974276G>C" "" "" "" "PCYT1A(NM_005017.2):c.448C>G (p.(Pro150Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000885698" "0" "30" "3" "195997318" "195997318" "subst" "3.65464E-5" "01804" "PCYT1A_000037" "g.195997318C>T" "" "" "" "PCYT1A(NM_005017.2):c.85G>A (p.(Gly29Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948097" "0" "50" "3" "195966431" "195966431" "subst" "3.65996E-5" "01804" "PCYT1A_000038" "g.195966431G>A" "" "" "" "PCYT1A(NM_005017.2):c.884C>T (p.(Pro295Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033875" "0" "50" "3" "195959364" "195959364" "subst" "2.03028E-5" "01804" "PCYT1A_000039" "g.195959364G>T" "" "" "" "SLC51A(NM_152672.6):c.855G>T (p.(Ser285=))" "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 PCYT1A ## Count = 60 "{{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}}" "0000149994" "00015851" "70" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Ala93Thr)" "5" "0000149995" "00015851" "70" "897" "1" "897" "1" "c.897+1G>A" "r.spl" "p.?" "9i" "0000149996" "00015851" "70" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Ala93Thr)" "5" "0000149997" "00015851" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "9" "0000158266" "00015851" "90" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Ala99Thr)" "5" "0000158267" "00015851" "90" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Ala99Thr)" "5" "0000158268" "00015851" "90" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Ala99Thr)" "5" "0000158269" "00015851" "90" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.(Ala99Val)" "5" "0000158270" "00015851" "90" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.(Ala99Val)" "5" "0000158271" "00015851" "90" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.(Ala99Val)" "5" "0000158272" "00015851" "90" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Glu129Lys)" "6" "0000158273" "00015851" "90" "448" "0" "448" "0" "c.448C>G" "r.(?)" "p.(Pro150Ala)" "6" "0000158274" "00015851" "90" "571" "0" "571" "0" "c.571T>C" "r.(?)" "p.(Phe191Leu)" "8" "0000158275" "00015851" "90" "669" "0" "669" "0" "c.669G>C" "r.(?)" "p.(Arg223Ser)" "8" "0000158276" "00015851" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "9" "0000158277" "00015851" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "9" "0000158278" "00015851" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "9" "0000158279" "00015851" "90" "990" "0" "990" "0" "c.990del" "r.(?)" "p.(Ser331ProfsTer?)" "10" "0000158280" "00015851" "90" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Glu129Lys)" "6" "0000158281" "00015851" "90" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Glu129Lys)" "6" "0000158282" "00015851" "90" "968" "0" "968" "0" "c.968dup" "r.(?)" "p.(Ser323Argfs*38)" "10" "0000158283" "00015851" "90" "968" "0" "968" "0" "c.968dup" "r.(?)" "p.(Ser323Argfs*38)" "10" "0000158284" "00015851" "90" "838" "0" "840" "0" "c.838_840del" "r.(?)" "p.(Glu280del)" "9" "0000158285" "00015851" "90" "838" "0" "840" "0" "c.838_840del" "r.(?)" "p.(Glu280del)" "9" "0000158286" "00015851" "90" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Val142Met)" "6" "0000158287" "00015851" "90" "996" "0" "996" "0" "c.996del" "r.(?)" "p.(Ser333Leufs*?)" "10" "0000222092" "00015851" "70" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.(Ala99Val)" "5" "0000293589" "00015851" "50" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Pro337Leu)" "" "0000293590" "00015851" "10" "118" "-6" "118" "-6" "c.118-6C>T" "r.(=)" "p.(=)" "" "0000293591" "00015851" "10" "335" "-12" "335" "-12" "c.335-12G>C" "r.(=)" "p.(=)" "" "0000293592" "00015851" "30" "58" "0" "58" "0" "c.58G>C" "r.(?)" "p.(Gly20Arg)" "" "0000293593" "00015851" "30" "707" "0" "707" "0" "c.707A>G" "r.(?)" "p.(Asn236Ser)" "" "0000518870" "00015851" "30" "996" "0" "996" "0" "c.996C>G" "r.(?)" "p.(Pro332=)" "" "0000518871" "00015851" "30" "960" "0" "960" "0" "c.960C>T" "r.(?)" "p.(Pro320=)" "" "0000518872" "00015851" "10" "843" "0" "843" "0" "c.843G>A" "r.(?)" "p.(Lys281=)" "" "0000518873" "00015851" "10" "565" "12" "565" "12" "c.565+12G>C" "r.(=)" "p.(=)" "" "0000518874" "00015851" "10" "348" "0" "348" "0" "c.348G>A" "r.(?)" "p.(Glu116=)" "" "0000518875" "00015851" "30" "335" "-4" "335" "-4" "c.335-4C>T" "r.spl?" "p.?" "" "0000518877" "00015851" "50" "106" "0" "106" "0" "c.106C>T" "r.(?)" "p.(Arg36Cys)" "" "0000608463" "00015851" "30" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Arg328His)" "" "0000608464" "00015851" "50" "325" "0" "325" "0" "c.325A>G" "r.(?)" "p.(Ile109Val)" "" "0000608465" "00015851" "30" "321" "0" "321" "0" "c.321C>T" "r.(?)" "p.(Tyr107=)" "" "0000673890" "00015851" "90" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.(Ala99Val)" "5" "0000676918" "00015851" "30" "996" "0" "996" "0" "c.996C>G" "r.(?)" "p.(Pro332=)" "" "0000676919" "00015851" "30" "984" "0" "984" "0" "c.984C>T" "r.(?)" "p.(Arg328=)" "" "0000689009" "00015851" "30" "707" "0" "707" "0" "c.707A>G" "r.(?)" "p.(Asn236Ser)" "" "0000719319" "00015851" "30" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Glu160Lys)" "" "0000731422" "00015851" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000731423" "00015851" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000731446" "00015851" "70" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Ala93Thr)" "" "0000731447" "00015851" "70" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Ala93Thr)" "" "0000760071" "00015851" "50" "217" "5" "217" "5" "c.217+5G>A" "r.spl?" "p.?" "" "0000801129" "00015851" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Pro330Ser)" "" "0000801130" "00015851" "30" "830" "0" "830" "0" "c.830A>G" "r.(?)" "p.(Lys277Arg)" "" "0000819772" "00015851" "70" "968" "0" "968" "0" "c.968dup" "r.(?)" "p.(Ser323Argfs*38)" "" "0000820715" "00015851" "70" "471" "0" "471" "0" "c.471C>G" "r.(?)" "p.(Phe157Leu)" "" "0000885697" "00015851" "70" "448" "0" "448" "0" "c.448C>G" "r.(?)" "p.(Pro150Ala)" "" "0000885698" "00015851" "30" "85" "0" "85" "0" "c.85G>A" "r.(?)" "p.(Gly29Arg)" "" "0000948097" "00015851" "50" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Pro295Leu)" "" "0001033875" "00015851" "50" "7299" "0" "7299" "0" "c.*6195C>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{variantid}}" "0000091825" "0000149994" "0000091825" "0000149995" "0000091826" "0000149996" "0000091826" "0000149997" "0000096285" "0000158269" "0000096286" "0000158270" "0000096286" "0000158273" "0000096287" "0000158271" "0000096288" "0000158266" "0000096288" "0000158276" "0000096289" "0000158267" "0000096289" "0000158277" "0000096290" "0000158268" "0000096290" "0000158278" "0000096291" "0000158275" "0000096291" "0000158279" "0000096292" "0000158272" "0000096292" "0000158274" "0000096293" "0000158280" "0000096294" "0000158281" "0000096295" "0000158282" "0000096296" "0000158283" "0000096297" "0000158284" "0000096297" "0000158286" "0000096298" "0000158285" "0000096298" "0000158287" "0000132910" "0000222092" "0000307288" "0000673890" "0000333673" "0000731422" "0000333673" "0000731446" "0000333674" "0000731423" "0000333674" "0000731447" "0000360210" "0000760071" "0000390427" "0000819772" "0000390427" "0000820715"