### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PIGO) # 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}}" "PIGO" "phosphatidylinositol glycan anchor biosynthesis, class O" "9" "p13.2" "no" "NG_031990.1" "UD_132438785691" "" "http://www.LOVD.nl/PIGO" "" "1" "23215" "84720" "614730" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/PIGO_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-01-06 00:00:00" "00081" "2018-12-31 00:38:54" "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}}" "00016154" "PIGO" "transcript variant 1" "002" "NM_032634.3" "" "NP_116023.2" "" "" "" "-396" "3674" "3270" "35096546" "35088685" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00937" "HPMRS2;GPIBD6" "hyperphosphatasia, with mental retardation syndrome, type 2 (HPMRS-2, glycosylphosphatidylinositol deficiency, type 6 (GPIBD-6))" "AR" "614749" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PIGO" "00139" "PIGO" "00937" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00025057" "" "" "" "1" "" "00081" "{PMID: Krawitz et al 2012:22683086}" "Two sisters with hyperphosphatasia with mental retardation syndrome type 2 (OMIM 614749)" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00025058" "" "" "" "1" "" "00081" "{PMID:Krawitz 2012 :22683086}" "Index case with hyperphosphatasia with mental retardation syndrome 2." "F" "no" "" "01y10m" "0" "" "" "white" "" "00100917" "" "" "" "1" "" "01935" "" "" "F" "no" "Japan" "01y05m" "0" "" "" "" "AII-2" "00155201" "" "" "" "2" "" "00081" "{PMID:Nakamura 2014:24417746}" "" "M" "no" "Japan" "" "0" "" "" "" "II-1" "00155202" "" "" "00155201" "1" "" "00081" "{PMID:Nakamura 2014:24417746}" "" "F" "no" "Japan" "" "0" "" "" "" "II-2" "00155203" "" "" "" "2" "" "00081" "{PMID:Tanigawa 2017:28337824}" "" "F" "no" "Japan" "" "0" "" "" "" "AII-2" "00155204" "" "" "00155203" "1" "" "00081" "{PMID:Tanigawa 2017:28337824}" "" "M" "no" "Japan" "" "0" "" "" "" "AII-3" "00155205" "" "" "" "1" "" "00081" "{PMID:Tanigawa 2017:28337824}" "" "F" "no" "Japan" "" "0" "" "" "" "BII-2" "00155206" "" "" "" "2" "" "00081" "{PMID:Tanigawa 2017:28337824}" "" "F" "" "Japan" "" "0" "" "" "" "CII-2" "00155207" "" "" "00155206" "1" "" "00081" "{PMID:Tanigawa 2017:28337824}" "" "F" "no" "Japan" "" "0" "" "" "" "CII-3" "00155208" "" "" "" "1" "" "00081" "{PMID:Tanigawa 2017:28337824}" "" "M" "no" "Japan" "" "0" "" "" "" "DII-1" "00155209" "" "" "" "1" "" "00081" "{PMID:Xue 2016:27177984}" "" "M" "no" "China" "" "0" "" "" "" "Patient_2" "00155210" "" "" "" "1" "" "00081" "{PMID:Morren 2017:28545593}" "" "M" "no" "" "" "0" "" "" "Afro-Caribbean" "" "00155211" "" "" "" "1" "" "00081" "{PMID:Pagnamenta 2017:28327575}" "" "M" "no" "" "" "0" "" "" "white" "263039" "00155212" "" "" "" "1" "" "00081" "{PMID:Kuki 2013:24049131}" "" "M" "no" "" "" "0" "" "" "" "" "00155213" "" "" "" "2" "" "00081" "{PMID:Zehavi 2017:28900819}" "" "F" "yes" "" "" "0" "" "" "Arab Muslim" "Patient_1" "00155214" "" "" "00155213" "1" "" "00081" "{PMID:Zehavi 2017:28900819}" "" "F" "yes" "" "" "0" "" "" "Arab Muslim" "" "00431891" "" "" "" "1" "" "01602" "" "" "M" "" "Switzerland" "00y02m" "" "" "" "Europe" "SIDS236" "00438353" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat71" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00025057" "00937" "00025058" "00937" "00100917" "00937" "00155201" "00344" "00155202" "00344" "00431891" "02087" "00438353" "04270" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00344, 00937, 02087, 04270 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000021171" "00937" "00025057" "00081" "Familial, autosomal recessive" "" "The patients were born with anal stenosis. Growth development was delayed in elder sister who also showed marked microcephaly. Psychomotor development was present but it was most severe in elder sister. Their common facial signs included wide-set eyes that appeared large because of long palpebral fissures, a short nose with a broad nasal bridge and nasal tip, and a tented mouth. Their fingers showed nail hypoplasia, especially of the second, fourth, and fifth digits, and absent nails of the fifth digits. Their halluces were broad, but the toes showed small nails or aplasia of nails, especially of the fourth and fifths digits." "" "" "" "" "" "" "" "" "" "0000021172" "00937" "00025058" "00081" "Familial, autosomal recessive" "" "She was born with anal atresia and perineal fistula. Additional malformations included an atrial septal defect, peripheral pulmonary stenosis, left coronal synostosis resulting in plagiocephaly, and an enlarged supratentorial ventricular system. Growth development was delayed. Psychomotor development was severely retarded. She developed tonic-clonic seizures at the age of 21 months and died at the age of 22 months as a result of a convulsive crisis. Facial signs included wide-set eyes that appeared large because of long palpebral fissures, a short nose with a broad nasal bridge and nasal tip, and a tented mouth." "" "" "" "" "" "" "" "" "" "0000322460" "02087" "00431891" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "0000328257" "04270" "00438353" "00006" "Familial, autosomal recessive" "" "HP:0001250 seizures; HP:0011948 acute respiratory tract infection" "1y7m" "" "" "" "" "" "" "" "epilepsy" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000025061" "00025057" "1" "00081" "00081" "2014-12-03 20:36:31" "" "" "SEQ-NG" "DNA" "" "" "0000025062" "00025058" "1" "00081" "00081" "2014-12-03 21:12:19" "" "" "SEQ-NG" "DNA" "" "" "0000101339" "00100917" "1" "01935" "01935" "2017-03-13 08:05:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000156065" "00155201" "1" "00081" "00081" "2018-03-14 19:38:34" "" "" "SEQ-NG" "DNA" "peripheral blood" "WES" "0000156066" "00155202" "1" "00081" "00081" "2018-03-14 19:51:46" "" "" "SEQ-NG" "DNA" "" "WES" "0000156067" "00155203" "1" "00081" "00081" "2018-03-14 20:22:29" "" "" "SEQ-NG" "DNA" "peripheral blood" "WES" "0000156068" "00155204" "1" "00081" "00081" "2018-03-14 20:47:05" "" "" "SEQ-NG" "DNA" "" "WES" "0000156069" "00155205" "1" "00081" "00081" "2018-03-14 21:07:23" "00081" "2018-03-14 21:17:06" "SEQ-NG" "DNA" "" "exome sequencing" "0000156070" "00155206" "1" "00081" "00081" "2018-03-14 21:16:12" "" "" "SEQ-NG" "DNA" "" "exome sequencing" "0000156071" "00155207" "1" "00081" "00081" "2018-03-14 21:22:26" "" "" "SEQ-NG" "DNA" "" "exome sequencing" "0000156072" "00155208" "1" "00081" "00081" "2018-03-14 21:27:00" "" "" "SEQ-NG" "DNA" "" "exome sequencing" "0000156073" "00155209" "1" "00081" "00081" "2018-03-14 21:35:59" "" "" "SEQ-NG" "DNA" "" "panel of 470 genes related to epilepsy" "0000156074" "00155210" "1" "00081" "00081" "2018-03-14 21:48:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000156075" "00155211" "1" "00081" "00081" "2018-03-14 22:09:52" "" "" "SEQ-NG" "DNA" "" "WES" "0000156076" "00155212" "1" "00081" "00081" "2018-03-14 22:35:00" "" "" "SEQ-NG" "DNA" "" "panel of 26 genes" "0000156077" "00155213" "1" "00081" "00081" "2018-03-14 22:56:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000156078" "00155214" "1" "00081" "00081" "2018-03-14 22:59:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000433332" "00431891" "1" "01602" "01602" "2023-02-17 15:50:21" "" "" "SEQ-NG" "DNA" "" "" "0000439835" "00438353" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000025061" "PIGO" "0000025062" "PIGO" ## 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 = 72 "{{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}}" "0000047919" "21" "99" "9" "35090263" "35090263" "subst" "0" "00081" "PIGO_000001" "g.35090263G>A" "" "{PMID:Krawitz et al. 2012:22683086}" "" "" "p.Leu957Phe affects the second of four leucine residues in a polyleucine stretch within a hydrophobic transmembrane domain of PIGO. The residue is evolutionarily highly conserved in most species. The effect of the detected substitution was classified as disease causing by MutationTaster and Polyphen. The heterozygote frequency of all three alleles in the European population is below 0.0005. In trasnfected PIGO-deficient CHO cells, Leu957Phe PIGO induced only very low levels of CD59 and uPAR. PIGO-deficient CHO cell lines had decreased cell surface placental alkaline phosphatase (ALP) activity with increased secretion of ALP, which was rescued by transfection with wildtype PIGO." "Germline" "yes" "rs142164373" "0" "" "" "g.35090266G>A" "" "pathogenic" "" "0000047920" "11" "90" "9" "35091529" "35091529" "dup" "0" "00081" "PIGO_000002" "g.35091529dup" "" "{PMID:Krawitz et al. 2012: 22683086}" "" "" "p.Thr788Hisfs∗5 PIGO did not restore at all CD59 and uPAR levels in PIGO-deficient CHO cells. Compared with that of wild-type PIGO, the c.2361dup mutation resulted in an increased level of the truncated Thr788Hisfs∗ protein." "Germline" "yes" "" "0" "" "" "g.35091532dup" "" "pathogenic" "" "0000047921" "21" "90" "9" "35090058" "35090058" "subst" "2.44234E-5" "00081" "PIGO_000003" "g.35090058C>T" "" "{PMID:Krawitz et al. 2012:22683086}" "" "" "variant results in aberrant splicing; according to data from the NHLBI Exome Sequencing Project, there is one heterozygous individual for this intronic mutation out of 5,379 tested individuals, which is consistent with the expected incidence of the disease." "Germline" "yes" "" "0" "" "" "g.35090061C>T" "" "pathogenic" "" "0000065292" "0" "77" "9" "35090263" "35090263" "subst" "0" "00081" "PIGO_000001" "g.35090263G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35090266G>A" "" "likely pathogenic" "" "0000163858" "0" "90" "9" "35093037" "35093037" "subst" "1.63187E-5" "01935" "PIGO_000004" "g.35093037T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35093040T>C" "" "VUS" "" "0000296958" "0" "10" "9" "35093020" "35093020" "subst" "0.546659" "02325" "PIGO_000023" "g.35093020T>C" "" "" "" "PIGO(NM_032634.4):c.1119+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35093023T>C" "" "benign" "" "0000305606" "0" "50" "9" "35091487" "35091487" "subst" "0" "01943" "PIGO_000022" "g.35091487T>G" "" "" "" "PIGO(NM_032634.3):c.2397A>C (p.Q799H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35091490T>G" "" "VUS" "" "0000332606" "0" "50" "9" "35090170" "35090170" "subst" "0" "01804" "PIGO_000024" "g.35090170C>T" "" "" "" "PIGO(NM_001201484.1):c.1711G>A (p.(Glu571Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35090173C>T" "" "VUS" "" "0000332610" "0" "50" "9" "35092764" "35092764" "subst" "0" "01804" "PIGO_000034" "g.35092764C>G" "" "" "" "PIGO(NM_001201484.1):c.1120G>C (p.(Val374Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35092767C>G" "" "VUS" "" "0000332611" "0" "50" "9" "35094287" "35094287" "subst" "4.15555E-5" "01804" "PIGO_000036" "g.35094287A>C" "" "" "" "PIGO(NM_001201484.1):c.581T>G (p.(Phe194Cys)), PIGO(NM_032634.3):c.581T>G (p.F194C), PIGO(NM_032634.4):c.581T>G (p.F194C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35094290A>C" "" "VUS" "" "0000332612" "0" "50" "9" "35095169" "35095169" "subst" "6.49736E-5" "01804" "PIGO_000038" "g.35095169T>C" "" "" "" "PIGO(NM_001201484.1):c.394A>G (p.(Met132Val)), PIGO(NM_032634.3):c.394A>G (p.M132V), PIGO(NM_032634.4):c.394A>G (p.M132V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35095172T>C" "" "VUS" "" "0000332613" "0" "50" "9" "35100615" "35100615" "subst" "0.000666055" "01804" "FAM214B_000001" "g.35100615C>T" "" "" "" "STOML2(NM_013442.1):c.913G>A (p.(Val305Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35100618C>T" "" "VUS" "" "0000347129" "0" "50" "9" "35092752" "35092752" "subst" "0.000146518" "02327" "PIGO_000006" "g.35092752G>A" "" "" "" "PIGO(NM_032634.3):c.1132C>T (p.(Leu378Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35092755G>A" "" "VUS" "" "0000357913" "11" "70" "9" "35095174" "35095174" "subst" "0" "00081" "PIGO_000007" "g.35095174G>T" "" "{PMID:Nakamura et al. 2014:24417746}" "" "" "" "Germline" "" "" "0" "" "" "g.35095177G>T" "" "likely pathogenic" "" "0000357914" "21" "70" "9" "35092596" "35092596" "subst" "0" "00081" "PIGO_000008" "g.35092596G>A" "" "{PMID:Nakamura et al. 2014:24417746}" "" "" "" "Germline" "" "" "0" "" "" "g.35092599G>A" "" "likely pathogenic" "" "0000357915" "11" "70" "9" "35095174" "35095174" "subst" "0" "00081" "PIGO_000007" "g.35095174G>T" "" "{PMID:Nakamura et al. 2014:24417746}" "" "" "" "Germline" "" "" "0" "" "" "g.35095177G>T" "" "likely pathogenic" "" "0000357916" "21" "70" "9" "35092596" "35092596" "subst" "0" "00081" "PIGO_000008" "g.35092596G>A" "" "{PMID:Nakamura et al. 2014:24417746}" "" "" "" "Germline" "" "" "0" "" "" "g.35092599G>A" "" "likely pathogenic" "" "0000357917" "0" "70" "9" "35093037" "35093037" "subst" "1.63187E-5" "00081" "PIGO_000004" "g.35093037T>C" "" "{PMID:Tanigawa et al. 2017:28337824}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35093040T>C" "" "likely pathogenic" "" "0000357918" "0" "70" "9" "35091387" "35091388" "del" "0" "00081" "PIGO_000009" "g.35091387_35091388del" "" "{PMID:Tanigawa et al. 2017:28337824}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35091390_35091391del" "" "likely pathogenic" "" "0000357919" "0" "70" "9" "35093037" "35093037" "subst" "1.63187E-5" "00081" "PIGO_000004" "g.35093037T>C" "" "{PMID:Tanigawa et al. 2017:28337824}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35093040T>C" "" "likely pathogenic" "" "0000357920" "0" "70" "9" "35091387" "35091388" "del" "0" "00081" "PIGO_000009" "g.35091387_35091388del" "" "{PMID:Tanigawa et al. 2017:28337824}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35091390_35091391del" "" "likely pathogenic" "" "0000357921" "0" "70" "9" "35093037" "35093037" "subst" "1.63187E-5" "00081" "PIGO_000004" "g.35093037T>C" "" "{PMID:Tanigawa et al. 2017:28337824}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35093040T>C" "" "likely pathogenic" "" "0000357922" "0" "70" "9" "35091238" "35091238" "del" "0" "00081" "PIGO_000010" "g.35091238del" "" "{PMID:Tanigawa et al. 2017:28337824}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35091241del" "" "likely pathogenic" "" "0000357923" "0" "70" "9" "35093115" "35093115" "subst" "4.06184E-6" "00081" "PIGO_000011" "g.35093115A>T" "" "{PMID:Tanigawa et al. 2017:28337824}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35093118A>T" "" "likely pathogenic" "" "0000357924" "0" "70" "9" "35092596" "35092596" "subst" "0" "00081" "PIGO_000008" "g.35092596G>A" "" "{PMID:Tanigawa et al. 2017:28337824}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35092599G>A" "" "likely pathogenic" "" "0000357925" "0" "70" "9" "35093115" "35093115" "subst" "4.06184E-6" "00081" "PIGO_000011" "g.35093115A>T" "" "{PMID:Tanigawa et al. 2017:28337824}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35093118A>T" "" "likely pathogenic" "" "0000357926" "0" "70" "9" "35092596" "35092596" "subst" "0" "00081" "PIGO_000008" "g.35092596G>A" "" "{PMID:Tanigawa et al. 2017:28337824}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35092599G>A" "" "likely pathogenic" "" "0000357927" "0" "70" "9" "35089378" "35089378" "subst" "0" "00081" "PIGO_000012" "g.35089378T>C" "" "{PMID:Tanigawa et al. 2017:28337824}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35089381T>C" "" "likely pathogenic" "" "0000357928" "0" "70" "9" "35092596" "35092596" "subst" "0" "00081" "PIGO_000008" "g.35092596G>A" "" "{PMID:Tanigawa et al. 2017:28337824}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35092599G>A" "" "likely pathogenic" "" "0000357929" "11" "70" "9" "35095105" "35095105" "subst" "0" "00081" "PIGO_000013" "g.35095105A>G" "" "{PMID:Xue et al. 2016:27177984}" "" "" "" "Germline" "" "" "0" "" "" "g.35095108A>G" "" "likely pathogenic" "" "0000357930" "21" "70" "9" "35092529" "35092530" "del" "0" "00081" "PIGO_000014" "g.35092529_35092530del" "" "{PMID:Xue et al. 2016:27177984}" "" "" "" "Germline" "" "" "0" "" "" "g.35092532_35092533del" "" "likely pathogenic" "" "0000357931" "11" "70" "9" "35091272" "35091272" "subst" "0" "00081" "PIGO_000015" "g.35091272T>G" "" "{PMID:Morren et al. 2017:28545593}" "" "" "" "Germline" "" "" "0" "" "" "g.35091275T>G" "" "likely pathogenic" "" "0000357932" "21" "70" "9" "35092077" "35092077" "dup" "0" "00081" "PIGO_000016" "g.35092077dup" "" "{PMID:Morren et al. 2017:28545593}" "" "" "" "Germline" "" "" "0" "" "" "g.35092080dup" "" "likely pathogenic" "" "0000357933" "21" "70" "9" "35092578" "35092578" "subst" "4.0715E-6" "00081" "PIGO_000017" "g.35092578G>A" "" "{PMID:Pagnamenta et al. 2017:28327575}" "" "" "" "Germline" "" "" "0" "" "" "g.35092581G>A" "" "likely pathogenic" "" "0000357934" "11" "70" "9" "35093964" "35093964" "subst" "1.2184E-5" "00081" "PIGO_000018" "g.35093964C>T" "" "{PMID:Pagnamenta et al. 2017:28327575}" "" "" "" "Germline" "" "" "0" "" "" "g.35093967C>T" "" "likely pathogenic" "" "0000357935" "11" "70" "9" "35095208" "35095208" "subst" "2.03064E-5" "00081" "PIGO_000019" "g.35095208G>A" "" "{PMID:Kuki et al. 2013:24049131}" "" "" "" "Germline" "" "" "0" "" "" "g.35095211G>A" "" "likely pathogenic" "" "0000357936" "21" "70" "9" "35068861" "35068862" "del" "0" "00081" "PIGO_000020" "g.35068861_35068862del" "" "{PMID:Kuki et al. 2013:24049131}" "" "" "" "Germline" "" "" "0" "" "" "g.35068864_35068865del" "" "likely pathogenic" "" "0000357937" "3" "70" "9" "35093912" "35093912" "subst" "0" "00081" "PIGO_000021" "g.35093912C>T" "" "{PMID:Zehavi et al. 2017:28900819}" "" "" "" "Germline" "" "" "0" "" "" "g.35093915C>T" "" "likely pathogenic" "" "0000357938" "3" "70" "9" "35093912" "35093912" "subst" "0" "00081" "PIGO_000021" "g.35093912C>T" "" "{PMID:Zehavi et al. 2017:28900819}" "" "" "" "Germline" "" "" "0" "" "" "g.35093915C>T" "" "likely pathogenic" "" "0000538080" "0" "30" "9" "35091686" "35091686" "subst" "0.002345" "02326" "PIGO_000027" "g.35091686C>T" "" "" "" "PIGO(NM_032634.4):c.2198G>A (p.R733Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35091689C>T" "" "likely benign" "" "0000538081" "0" "70" "9" "35091699" "35091699" "dup" "0" "02329" "PIGO_000028" "g.35091699dup" "" "" "" "PIGO(NM_032634.4):c.2191dupC (p.R731Pfs*62)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35091702dup" "" "likely pathogenic" "" "0000538082" "0" "90" "9" "35091803" "35091816" "del" "0" "02325" "PIGO_000029" "g.35091803_35091816del" "" "" "" "PIGO(NM_032634.3):c.2069_2082delGCTATGGTAATCTC (p.R690Qfs*33), PIGO(NM_032634.4):c.2069_2082delGCTATGGTAATCTC (p.R690Qfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35091806_35091819del" "" "pathogenic" "" "0000538083" "0" "30" "9" "35092126" "35092126" "subst" "0.000186887" "02326" "PIGO_000030" "g.35092126G>A" "" "" "" "PIGO(NM_032634.4):c.1758C>T (p.V586=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35092129G>A" "" "likely benign" "" "0000538084" "0" "70" "9" "35092136" "35092136" "subst" "0" "02325" "PIGO_000031" "g.35092136A>G" "" "" "" "PIGO(NM_032634.4):c.1748T>C (p.L583P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35092139A>G" "" "likely pathogenic" "" "0000538085" "0" "30" "9" "35092660" "35092660" "subst" "4.93129E-5" "02326" "PIGO_000033" "g.35092660C>T" "" "" "" "PIGO(NM_032634.4):c.1224G>A (p.Q408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35092663C>T" "" "likely benign" "" "0000538086" "0" "50" "9" "35092752" "35092752" "subst" "0.000146518" "01804" "PIGO_000006" "g.35092752G>A" "" "" "" "PIGO(NM_032634.3):c.1132C>T (p.(Leu378Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35092755G>A" "" "VUS" "" "0000538087" "0" "30" "9" "35094206" "35094206" "subst" "0.000453589" "02326" "PIGO_000035" "g.35094206T>G" "" "" "" "PIGO(NM_032634.3):c.655+7A>C, PIGO(NM_032634.4):c.655+7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35094209T>G" "" "likely benign" "" "0000538091" "0" "30" "9" "35095372" "35095372" "subst" "0" "01804" "PIGO_000039" "g.35095372G>A" "" "" "" "PIGO(NM_001201484.1):c.191C>T (p.(Ala64Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35095375G>A" "" "likely benign" "" "0000612103" "0" "30" "9" "35093177" "35093177" "subst" "0.000150599" "02326" "PIGO_000041" "g.35093177A>C" "" "" "" "PIGO(NM_032634.4):c.969T>G (p.L323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35093180A>C" "" "likely benign" "" "0000690532" "0" "30" "9" "35091616" "35091616" "subst" "0.00235008" "02326" "PIGO_000042" "g.35091616C>T" "" "" "" "PIGO(NM_032634.4):c.2268G>A (p.A756=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690533" "0" "70" "9" "35091699" "35091699" "del" "0" "01943" "PIGO_000005" "g.35091699del" "" "" "" "PIGO(NM_032634.3):c.2191delC (p.R731Vfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690534" "0" "70" "9" "35092077" "35092077" "dup" "0" "01943" "PIGO_000016" "g.35092077dup" "" "" "" "PIGO(NM_032634.3):c.1810dupC (p.R604Pfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690535" "0" "30" "9" "35094206" "35094206" "subst" "0.000453589" "01943" "PIGO_000035" "g.35094206T>G" "" "" "" "PIGO(NM_032634.3):c.655+7A>C, PIGO(NM_032634.4):c.655+7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722510" "0" "30" "9" "35091718" "35091718" "subst" "0.00055721" "01943" "PIGO_000043" "g.35091718C>G" "" "" "" "PIGO(NM_032634.3):c.2166G>C (p.A722=), PIGO(NM_032634.4):c.2166G>C (p.A722=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722511" "0" "30" "9" "35091718" "35091718" "subst" "0.00055721" "02326" "PIGO_000043" "g.35091718C>G" "" "" "" "PIGO(NM_032634.3):c.2166G>C (p.A722=), PIGO(NM_032634.4):c.2166G>C (p.A722=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804114" "0" "90" "9" "35091803" "35091816" "del" "0" "01943" "PIGO_000029" "g.35091803_35091816del" "" "" "" "PIGO(NM_032634.3):c.2069_2082delGCTATGGTAATCTC (p.R690Qfs*33), PIGO(NM_032634.4):c.2069_2082delGCTATGGTAATCTC (p.R690Qfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804115" "0" "50" "9" "35091984" "35091984" "subst" "0" "01943" "PIGO_000044" "g.35091984G>C" "" "" "" "PIGO(NM_032634.3):c.1900C>G (p.L634V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804116" "0" "30" "9" "35095102" "35095102" "subst" "0.00321483" "01943" "PIGO_000045" "g.35095102G>T" "" "" "" "PIGO(NM_032634.3):c.461C>A (p.A154D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852265" "0" "50" "9" "35094287" "35094287" "subst" "4.15555E-5" "01943" "PIGO_000036" "g.35094287A>C" "" "" "" "PIGO(NM_001201484.1):c.581T>G (p.(Phe194Cys)), PIGO(NM_032634.3):c.581T>G (p.F194C), PIGO(NM_032634.4):c.581T>G (p.F194C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852266" "0" "50" "9" "35095169" "35095169" "subst" "6.49736E-5" "01943" "PIGO_000038" "g.35095169T>C" "" "" "" "PIGO(NM_001201484.1):c.394A>G (p.(Met132Val)), PIGO(NM_032634.3):c.394A>G (p.M132V), PIGO(NM_032634.4):c.394A>G (p.M132V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861638" "0" "50" "9" "35093548" "35093548" "subst" "0" "01943" "PIGO_000046" "g.35093548G>A" "" "" "" "PIGO(NM_032634.3):c.809C>T (p.T270I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861639" "0" "50" "9" "35094251" "35094251" "subst" "1.26204E-5" "01943" "PIGO_000047" "g.35094251G>A" "" "" "" "PIGO(NM_032634.3):c.617C>T (p.T206I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918979" "0" "70" "9" "35093205" "35093205" "subst" "0" "01602" "PIGO_000048" "g.35093205T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000925042" "0" "50" "9" "35094287" "35094287" "subst" "4.15555E-5" "02325" "PIGO_000036" "g.35094287A>C" "" "" "" "PIGO(NM_001201484.1):c.581T>G (p.(Phe194Cys)), PIGO(NM_032634.3):c.581T>G (p.F194C), PIGO(NM_032634.4):c.581T>G (p.F194C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925043" "0" "50" "9" "35095169" "35095169" "subst" "6.49736E-5" "02325" "PIGO_000038" "g.35095169T>C" "" "" "" "PIGO(NM_001201484.1):c.394A>G (p.(Met132Val)), PIGO(NM_032634.3):c.394A>G (p.M132V), PIGO(NM_032634.4):c.394A>G (p.M132V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000935964" "1" "90" "9" "35092045" "35092048" "del" "0" "00006" "PIGO_000049" "g.35092045_35092048del" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PVS1,PM2,PM4" "Germline" "" "" "0" "" "" "g.35092048_35092051del" "" "pathogenic" "ACMG" "0000936036" "2" "70" "9" "35092502" "35092502" "subst" "0" "00006" "PIGO_000050" "g.35092502G>T" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline" "" "" "0" "" "" "g.35092505G>T" "" "likely pathogenic" "ACMG" "0000978687" "0" "50" "9" "35090063" "35090063" "subst" "0" "01804" "PIGO_000052" "g.35090063C>T" "" "" "" "PIGO(NM_032634.4):c.3069G>A (p.(Gln1023=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997854" "0" "30" "9" "35091860" "35091860" "subst" "5.69499E-5" "01804" "PIGO_000053" "g.35091860G>A" "" "" "" "PIGO(NM_032634.3):c.2024C>T (p.(Ala675Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997855" "0" "90" "9" "35094278" "35094278" "subst" "8.28535E-6" "01804" "PIGO_000054" "g.35094278G>A" "" "" "" "PIGO(NM_032634.3):c.590C>T (p.(Pro197Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001037508" "0" "50" "9" "35089414" "35089414" "subst" "0.000113713" "01804" "PIGO_000055" "g.35089414G>A" "" "" "" "PIGO(NM_032634.4):c.3103C>T (p.(Arg1035Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037509" "0" "50" "9" "35095540" "35095540" "subst" "3.21703E-5" "01804" "PIGO_000056" "g.35095540A>G" "" "" "" "PIGO(NM_032634.4):c.23T>C (p.(Leu8Pro))" "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 PIGO ## Count = 72 "{{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}}" "0000047919" "00016154" "90" "2869" "0" "2869" "0" "c.2869C>T" "r.(?)" "p.(Leu957Phe)" "" "0000047920" "00016154" "90" "2361" "0" "2361" "0" "c.2361dup" "r.(?)" "p.(Thr788Hisfs*5)" "" "0000047921" "00016154" "90" "3069" "5" "3069" "5" "c.3069+5G>A" "r.2855_3069del" "p.Val952Aspfs" "9i" "0000065292" "00016154" "00" "2869" "0" "2869" "0" "c.2869C>T" "r.(?)" "p.(Leu957Phe)" "" "0000163858" "00016154" "90" "1109" "0" "1109" "0" "c.1109A>G" "r.(?)" "p.(Asn370Ser)" "" "0000296958" "00016154" "10" "1119" "7" "1119" "7" "c.1119+7A>G" "r.(=)" "p.(=)" "" "0000305606" "00016154" "50" "2397" "0" "2397" "0" "c.2397A>C" "r.(?)" "p.(Gln799His)" "" "0000332606" "00016154" "50" "2962" "0" "2962" "0" "c.2962G>A" "r.(?)" "p.(Glu988Lys)" "" "0000332610" "00016154" "50" "1120" "0" "1120" "0" "c.1120G>C" "r.(?)" "p.(Val374Leu)" "" "0000332611" "00016154" "50" "581" "0" "581" "0" "c.581T>G" "r.(?)" "p.(Phe194Cys)" "" "0000332612" "00016154" "50" "394" "0" "394" "0" "c.394A>G" "r.(?)" "p.(Met132Val)" "" "0000332613" "00016154" "50" "-4465" "0" "-4465" "0" "c.-4465G>A" "r.(?)" "p.(=)" "" "0000347129" "00016154" "50" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Leu378Phe)" "" "0000357913" "00016154" "70" "389" "0" "389" "0" "c.389C>A" "r.(?)" "p.(Thr130Asn)" "1" "0000357914" "00016154" "70" "1288" "0" "1288" "0" "c.1288C>T" "r.(?)" "p.(Gln430*)" "6" "0000357915" "00016154" "70" "389" "0" "389" "0" "c.389C>A" "r.(?)" "p.(Thr130Asn)" "1" "0000357916" "00016154" "70" "1288" "0" "1288" "0" "c.1288C>T" "r.(?)" "p.(Gln430*)" "6" "0000357917" "00016154" "70" "1109" "0" "1109" "0" "c.1109A>G" "r.(?)" "p.(Asn370Ser)" "" "0000357918" "00016154" "70" "2497" "0" "2498" "0" "c.2497_2498del" "r.(?)" "p.(Ala834Cysfs*131)" "" "0000357919" "00016154" "70" "1109" "0" "1109" "0" "c.1109A>G" "r.(?)" "p.(Asn370Ser)" "" "0000357920" "00016154" "70" "2497" "0" "2498" "0" "c.2497_2498del" "r.(?)" "p.(Ala834Cysfs*131)" "" "0000357921" "00016154" "70" "1109" "0" "1109" "0" "c.1109A>G" "r.(?)" "p.(Asn370Ser)" "" "0000357922" "00016154" "70" "2646" "0" "2646" "0" "c.2646del" "r.(?)" "p.(Gly883Valfs*56)" "" "0000357923" "00016154" "70" "1031" "0" "1031" "0" "c.1031T>A" "r.(?)" "p.(Met344Lys)" "" "0000357924" "00016154" "70" "1288" "0" "1288" "0" "c.1288C>T" "r.(?)" "p.(Gln430*)" "" "0000357925" "00016154" "70" "1031" "0" "1031" "0" "c.1031T>A" "r.(?)" "p.(Met344Lys)" "" "0000357926" "00016154" "70" "1288" "0" "1288" "0" "c.1288C>T" "r.(?)" "p.(Gln430*)" "" "0000357927" "00016154" "70" "3139" "0" "3139" "0" "c.3139A>G" "r.(?)" "p.(Lys1047Glu)" "" "0000357928" "00016154" "70" "1288" "0" "1288" "0" "c.1288C>T" "r.(?)" "p.(Gln430*)" "" "0000357929" "00016154" "70" "458" "0" "458" "0" "c.458T>C" "r.(?)" "p.(Phe153Ser)" "1" "0000357930" "00016154" "70" "1355" "0" "1356" "0" "c.1355_1356del" "r.(?)" "p.(Ala452Glyfs*53)" "6" "0000357931" "00016154" "70" "2612" "0" "2612" "0" "c.2612A>C" "r.(?)" "p.(His871Pro)" "" "0000357932" "00016154" "70" "1810" "0" "1810" "0" "c.1810dup" "r.(?)" "p.(Arg604Profs*40)" "" "0000357933" "00016154" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" "0000357934" "00016154" "70" "713" "0" "713" "0" "c.713G>A" "r.(?)" "p.(Gly238Asp)" "" "0000357935" "00016154" "70" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119Trp)" "" "0000357936" "00016154" "70" "23497" "0" "23498" "0" "c.23497_23498del" "r.(=)" "p.Ala834fs" "" "0000357937" "00016154" "70" "765" "0" "765" "0" "c.765G>A" "r.(?)" "p.(Met255Ile)" "" "0000357938" "00016154" "70" "765" "0" "765" "0" "c.765G>A" "r.(?)" "p.(Met255Ile)" "" "0000538080" "00016154" "30" "2198" "0" "2198" "0" "c.2198G>A" "r.(?)" "p.(Arg733Gln)" "" "0000538081" "00016154" "70" "2191" "0" "2191" "0" "c.2191dup" "r.(?)" "p.(Arg731ProfsTer62)" "" "0000538082" "00016154" "90" "2069" "0" "2082" "0" "c.2069_2082del" "r.(?)" "p.(Arg690GlnfsTer33)" "" "0000538083" "00016154" "30" "1758" "0" "1758" "0" "c.1758C>T" "r.(?)" "p.(Val586=)" "" "0000538084" "00016154" "70" "1748" "0" "1748" "0" "c.1748T>C" "r.(?)" "p.(Leu583Pro)" "" "0000538085" "00016154" "30" "1224" "0" "1224" "0" "c.1224G>A" "r.(?)" "p.(Gln408=)" "" "0000538086" "00016154" "50" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Leu378Phe)" "" "0000538087" "00016154" "30" "655" "7" "655" "7" "c.655+7A>C" "r.(=)" "p.(=)" "" "0000538091" "00016154" "30" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Ala64Val)" "" "0000612103" "00016154" "30" "969" "0" "969" "0" "c.969T>G" "r.(?)" "p.(Leu323=)" "" "0000690532" "00016154" "30" "2268" "0" "2268" "0" "c.2268G>A" "r.(?)" "p.(Ala756=)" "" "0000690533" "00016154" "70" "2191" "0" "2191" "0" "c.2191del" "r.(?)" "p.(Arg731ValfsTer17)" "" "0000690534" "00016154" "70" "1810" "0" "1810" "0" "c.1810dup" "r.(?)" "p.(Arg604ProfsTer40)" "" "0000690535" "00016154" "30" "655" "7" "655" "7" "c.655+7A>C" "r.(=)" "p.(=)" "" "0000722510" "00016154" "30" "2166" "0" "2166" "0" "c.2166G>C" "r.(?)" "p.(Ala722=)" "" "0000722511" "00016154" "30" "2166" "0" "2166" "0" "c.2166G>C" "r.(?)" "p.(Ala722=)" "" "0000804114" "00016154" "90" "2069" "0" "2082" "0" "c.2069_2082del" "r.(?)" "p.(Arg690GlnfsTer33)" "" "0000804115" "00016154" "50" "1900" "0" "1900" "0" "c.1900C>G" "r.(?)" "p.(Leu634Val)" "" "0000804116" "00016154" "30" "461" "0" "461" "0" "c.461C>A" "r.(?)" "p.(Ala154Asp)" "" "0000852265" "00016154" "50" "581" "0" "581" "0" "c.581T>G" "r.(?)" "p.(Phe194Cys)" "" "0000852266" "00016154" "50" "394" "0" "394" "0" "c.394A>G" "r.(?)" "p.(Met132Val)" "" "0000861638" "00016154" "50" "809" "0" "809" "0" "c.809C>T" "r.(?)" "p.(Thr270Ile)" "" "0000861639" "00016154" "50" "617" "0" "617" "0" "c.617C>T" "r.(?)" "p.(Thr206Ile)" "" "0000918979" "00016154" "70" "941" "0" "941" "0" "c.941A>G" "r.(?)" "p.(Glu314Gly)" "" "0000925042" "00016154" "50" "581" "0" "581" "0" "c.581T>G" "r.(?)" "p.(Phe194Cys)" "" "0000925043" "00016154" "50" "394" "0" "394" "0" "c.394A>G" "r.(?)" "p.(Met132Val)" "" "0000935964" "00016154" "90" "1836" "0" "1839" "0" "c.1836_1839del" "r.(?)" "p.(Pro613Hisfs*9)" "" "0000936036" "00016154" "70" "1382" "0" "1382" "0" "c.1382C>A" "r.(?)" "p.(Ser461Tyr)" "" "0000978687" "00016154" "50" "3069" "0" "3069" "0" "c.3069G>A" "r.(?)" "p.(=)" "" "0000997854" "00016154" "30" "2024" "0" "2024" "0" "c.2024C>T" "r.(?)" "p.(Ala675Val)" "" "0000997855" "00016154" "90" "590" "0" "590" "0" "c.590C>T" "r.(?)" "p.(Pro197Leu)" "" "0001037508" "00016154" "50" "3103" "0" "3103" "0" "c.3103C>T" "r.(?)" "p.(Arg1035Cys)" "" "0001037509" "00016154" "50" "23" "0" "23" "0" "c.23T>C" "r.(?)" "p.(Leu8Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{variantid}}" "0000025061" "0000047919" "0000025061" "0000047920" "0000025062" "0000047921" "0000025062" "0000065292" "0000101339" "0000163858" "0000156065" "0000357913" "0000156065" "0000357914" "0000156066" "0000357915" "0000156066" "0000357916" "0000156067" "0000357917" "0000156067" "0000357918" "0000156068" "0000357919" "0000156068" "0000357920" "0000156069" "0000357921" "0000156069" "0000357922" "0000156070" "0000357923" "0000156070" "0000357924" "0000156071" "0000357925" "0000156071" "0000357926" "0000156072" "0000357927" "0000156072" "0000357928" "0000156073" "0000357929" "0000156073" "0000357930" "0000156074" "0000357931" "0000156074" "0000357932" "0000156075" "0000357933" "0000156075" "0000357934" "0000156076" "0000357935" "0000156076" "0000357936" "0000156077" "0000357937" "0000156078" "0000357938" "0000433332" "0000918979" "0000439835" "0000935964" "0000439835" "0000936036"