### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PITX3) # 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}}" "PITX3" "paired-like homeodomain 3" "10" "q24.32" "unknown" "NG_008147.1" "UD_132119088466" "" "http://www.LOVD.nl/PITX3" "" "1" "9006" "5309" "602669" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PITX3_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2010-03-01 00:00:00" "00006" "2016-05-26 22:55:36" "00006" "2025-11-08 17:42:19" ## 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}}" "00016224" "PITX3" "paired-like homeodomain 3" "001" "NM_005029.3" "" "NP_005020.1" "" "" "" "-154" "1234" "909" "104001231" "103989946" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00356" "MCOP" "anoophthalmia/microphthalmia" "" "" "" "" "" "00006" "2014-03-14 18:41:31" "00006" "2025-11-23 21:29:13" "01180" "ASGD1" "dysgenesis, anterior segment, type 1" "AD" "107250" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-11-10 16:35:46" "02964" "CTCRT11;CTPP4" "cataract, type 11, multiple types (CTRCT-11, cataract, posterior polar, type 4 (CTPP-4))" "AD;AR" "610623" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05165" "CCTRCT" "cataract, congenital (CCTRCT)" "" "" "" "" "" "00006" "2016-05-15 20:37:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PITX3" "01180" "PITX3" "02964" ## Individuals ## Do not remove or alter this header ## ## Count = 37 "{{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}}" "00065077" "" "" "" "6" "" "01588" "{PMID:Semina 1998:9620774}" "3-generation family, 6 affecteds (3F, 3M)" "F;M" "no" "United States" "" "0" "" "" "" "" "00065078" "" "" "" "2" "" "01588" "{PMID:Semina 1998:9620774}" "2-generation family, affected mother/son" "F;M" "no" "United States" "" "0" "" "" "" "" "00065079" "" "" "" "10" "" "01588" "{PMID:Berry 2004:15286169}" "family, 10 affected individuals" "" "" "" "" "" "" "" "English" "" "00065080" "" "" "" "11" "" "01588" "{PMID:Berry 2004:15286169}" "family, 11 affected individuals" "" "" "" "" "" "" "" "English" "" "00065081" "" "" "" "17" "" "01588" "{PMID:Berry 2004:15286169}" "family, 17 affected individuals" "" "" "" "" "" "" "" "English" "" "00065082" "" "" "" "12" "" "01588" "{PMID:Berry 2004:15286169}" "family, 12 affected individuals" "" "" "China" "" "" "" "" "" "" "00065083" "" "" "" "6" "" "01588" "{PMID:Berry 2004:15286169}" "family, 6 affected individuals" "" "" "" "" "" "" "" "Hispanic" "" "00065084" "" "" "" "20" "" "01588" "{PMID:Finzi 2005:16272057}" "" "" "" "" "" "" "" "" "English" "" "00065085" "" "" "" "32" "" "01588" "{PMID:Bidinost 2006:16565358}" "family, 32 affected individuals" "" "" "Lebanon" "" "" "" "" "" "" "00065086" "" "" "" "33" "" "01588" "{PMID:Burdon 2006:16636655}" "family, 33 affected individuals" "" "" "" "" "" "" "" "" "" "00065087" "" "" "" "7" "" "01588" "{PMID:Summers 2008:18989383}" "family, 7 affected individuals" "" "" "Australia" "" "" "" "" "" "" "00065088" "" "" "" "2" "" "01588" "{PMID:Aldahmesh 2011:21836522}" "" "" "" "" "" "" "" "" "" "" "00065089" "" "" "" "9" "" "01588" "{PMID:Berry 2011:21633712}" "" "" "" "" "" "" "" "" "English" "" "00065090" "" "" "" "4" "" "01588" "{PMID:Verdin 2014:24555714}, {DOI:Verdin 2014:10.1186/1750-1172-9-26}" "3-generation family, 4 affecteds (2F, 2M), grandmother, son, grandaugther/son" "F;M" "no" "Belgium" "" "0" "" "" "" "" "00065091" "" "" "" "6" "" "01588" "{PMID:Verdin 2014:24555714}, {DOI:Verdin 2014:10.1186/1750-1172-9-26}" "3-generation family, 6 affecteds (4F, 2M)" "F;M" "no" "Belgium" "" "0" "" "" "" "" "00065092" "" "" "" "9" "" "01588" "{PMID:Verdin 2014:24555714}, {DOI:Verdin 2014:10.1186/1750-1172-9-26}" "4-generation family, 9 affecteds (5F, 4M)" "F;M" "no" "Belgium" "" "0" "" "" "" "" "00065093" "" "" "" "6" "" "01588" "{PMID:Verdin 2014:24555714}, {DOI:Verdin 2014:10.1186/1750-1172-9-26}" "3-generation family, 6 affecteds (2F, 4M)" "F;M" "no" "Belgium" "" "0" "" "" "" "" "00065094" "" "" "" "3" "" "01588" "{PMID:Verdin 2014:24555714}, {DOI:Verdin 2014:10.1186/1750-1172-9-26}" "3-generation family, 3 affecteds (F, 2M)" "F;M" "" "Belgium" "" "0" "" "" "Belgina-Romanian" "" "00100419" "" "" "" "5" "" "00569" "" "" "M" "no" "France" "" "0" "" "" "" "" "00100420" "" "" "" "2" "" "00569" "" "" "F" "" "Iraq" "" "0" "" "" "" "" "00100422" "" "" "" "1" "" "00569" "" "" "M" "" "England" "" "0" "" "" "" "" "00100423" "" "" "" "2" "" "00569" "" "" "M" "?" "France" "" "0" "" "" "" "" "00100424" "" "" "" "2" "" "00569" "" "" "M" "" "France" "" "0" "" "" "" "" "00332102" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "family" "" "yes" "Saudi Arabia" "" "0" "" "" "" "F30‐M" "00385480" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "15021966" "00385526" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "17015905" "00434130" "" "" "" "3" "" "00006" "{PMID:Li 2019:31842807}" "2-generation family, affected mother/2 daughters" "F" "" "China" "" "0" "" "" "" "Fam2PatII1" "00434131" "" "" "" "5" "" "00006" "{PMID:Li 2019:31842807}" "4-generation family, 5 affected (5F)" "F" "" "China" "" "0" "" "" "" "Fam3PatIV1" "00434132" "" "" "" "4" "" "00006" "{PMID:Li 2019:31842807}" "4-generation family, 4 affected (2F, 2M)" "F" "" "China" "" "0" "" "" "" "Fam4PatIV1" "00434183" "" "" "" "1" "" "00006" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Spain" "" "0" "" "" "" "Fam28" "00434196" "" "" "" "6" "" "00006" "{PMID:Zhang 2018:30078984}" "3-generation family, 6 affected (2F, 4M)" "M" "" "China" "" "0" "" "" "" "WCC13PatIII1" "00434252" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam23139" "00441880" "" "" "" "2" "" "00006" "{PMID:Aldahmesh 2011:21836522}" "4-generation family, 2 affected (F, M)" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam1" "00446506" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, affected father/daughter" "F" "" "China" "" "0" "" "" "" "Fam113Pat302" "00446507" "" "" "00446506" "1" "" "00006" "{PMID:Liu 2023:37337769}" "father" "M" "" "China" "" "0" "" "" "" "Fam113Pat303" "00468371" "" "" "" "2" "" "00006" "{PMID:Guo 2025:40449652}" "family, several affected" "F" "" "China" "" "0" "" "" "" "Fam65Pat26588" "00468372" "" "" "00468371" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "M" "" "China" "" "0" "" "" "" "Fam65Pat26589" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 37 "{{individualid}}" "{{diseaseid}}" "00065077" "05165" "00065078" "05165" "00065079" "00296" "00065080" "00296" "00065081" "00296" "00065082" "00296" "00065083" "00296" "00065084" "00296" "00065085" "00296" "00065086" "00296" "00065087" "00296" "00065088" "00296" "00065089" "00296" "00065090" "05165" "00065091" "05165" "00065092" "05165" "00065093" "05165" "00065094" "05165" "00100419" "02964" "00100420" "02964" "00100422" "02964" "00100423" "02964" "00100424" "02964" "00332102" "00356" "00385480" "04214" "00385526" "04214" "00434130" "00296" "00434131" "00296" "00434132" "00296" "00434183" "00296" "00434196" "00296" "00434252" "00198" "00441880" "00198" "00446506" "00296" "00446507" "00296" "00468371" "00296" "00468372" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 00356, 01180, 02964, 04214, 05165 ## Count = 37 "{{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}}" "0000051404" "05165" "00065078" "01588" "Familial, autosomal dominant" "" "congenital cataract, anterior segment mesenchymal dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "0000051405" "05165" "00065077" "01588" "Familial, autosomal dominant" "" "anterior segment mesenchymal dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "0000053427" "05165" "00065094" "01588" "Familial, autosomal dominant" "" "congenital cataract (HP:0000519), microcornea (HP:0000482)" "" "" "" "" "" "" "" "" "" "" "" "0000053428" "05165" "00065090" "01588" "Familial, autosomal dominant" "" "congenital cataract (HP:0000519), posterior subcapsular cataract (HP:0007787), anterior segment dysgenesis (HP:0007700), corneal opacity (HP:0007957)" "" "" "" "" "" "" "" "" "" "" "" "0000053429" "05165" "00065091" "01588" "Familial, autosomal dominant" "" "congenital cataract (HP:0000519), microcornea (HP:0000482), corneal opacity (HP:0007957), irdocorneal adhesions, glaucoma (HP:0000501), nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "" "" "" "0000053430" "05165" "00065093" "01588" "Familial, autosomal dominant" "" "congenital cataract (HP:0000519), nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "" "" "" "0000053431" "05165" "00065092" "01588" "Familial, autosomal dominant" "" "congenital cataract (HP:0000519), corneal opacity (HP:0007957), anterior segment dysgenesis (HP:0007700)" "" "" "" "" "" "" "" "" "" "" "" "0000061172" "00296" "00065079" "01588" "Unknown" "" "Posterior polar cataract, Anterior segment mesenchymal dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "0000061173" "00296" "00065080" "01588" "Unknown" "" "Posterior polar cataract, Anterior segment mesenchymal dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "0000061174" "00296" "00065081" "01588" "Unknown" "" "Posterior polar cataract" "" "" "" "" "" "" "" "" "" "" "" "0000061175" "00296" "00065082" "01588" "Unknown" "" "Posterior polar cataract" "" "" "" "" "" "" "" "" "" "" "" "0000061176" "00296" "00065083" "01588" "Unknown" "" "Posterior polar cataract" "" "" "" "" "" "" "" "" "" "" "" "0000061177" "00296" "00065084" "01588" "Unknown" "" "Congenital posterior polar cataract" "" "" "" "" "" "" "" "" "" "" "" "0000061178" "00296" "00065085" "01588" "Unknown" "" "Posterior polar cataract, corneal opacity, microphthalmia" "" "" "" "" "" "" "" "" "" "" "" "0000061179" "00296" "00065086" "01588" "Unknown" "" "Congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "0000061180" "00296" "00065087" "01588" "Unknown" "" "Posterior polar cataract, Anterior segment mesenchymal dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "0000061181" "00296" "00065088" "01588" "Unknown" "" "Posterior polar cataract, Anterior segment dysgenesis, microphthalmia" "" "" "" "" "" "" "" "" "" "" "" "0000061182" "00296" "00065089" "01588" "Unknown" "" "Congenital posterior polar cataract" "" "" "" "" "" "" "" "" "" "" "" "0000078624" "02964" "00100419" "00569" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078628" "02964" "00100420" "00569" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078629" "02964" "00100422" "00569" "Familial, autosomal dominant" "" "microphthalmia, bilateral cataract, severe autism" "" "" "" "" "" "" "" "" "" "" "" "0000078630" "02964" "00100423" "00569" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078631" "02964" "00100424" "00569" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000250293" "00356" "00332102" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non‐syndromic microphthalmia" "" "0000279275" "04214" "00385480" "00000" "Unknown" "" "" "<1y" "" "" "" "" "" "" "" "bilateral paediatric cataract" "congenital cataracts" "" "0000279321" "04214" "00385526" "00000" "Unknown" "" "" "5y" "" "" "" "" "" "" "" "bilateral paediatric cataract" "congenital cataracts" "" "0000324484" "00296" "00434130" "00006" "Familial, autosomal dominant" "" "see paper; ..., nuclear/lamellar cataract, blue punctate opacities" "" "" "" "" "" "" "" "" "CTRCT14" "cataract" "" "0000324485" "00296" "00434131" "00006" "Familial, autosomal dominant" "" "see paper; ..., total cataract" "" "" "" "" "" "" "" "" "CTRCT33" "cataract" "" "0000324486" "00296" "00434132" "00006" "Familial, autosomal dominant" "" "see paper; ..., total cataract" "" "" "" "" "" "" "" "" "CTRCT6" "cataract" "" "0000324541" "00296" "00434183" "00006" "Familial, autosomal dominant" "" "posterior polar cataract; no microphthalmia; no microcornea; no iris malformations" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324554" "00296" "00434196" "00006" "Familial, autosomal dominant" "14y" "" "" "" "" "" "" "" "" "" "" "congenital cataract" "" "0000324610" "00198" "00434252" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CTRCT11" "cataract" "" "0000331268" "00198" "00441880" "00006" "Familial, autosomal recessive" "" "see paper; ..., anterior segment dysgenesis, microphthalmia" "" "" "" "" "" "" "" "" "ASGD1" "anterior segment dysgenesis" "" "0000335722" "00296" "00446506" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335723" "00296" "00446507" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000353523" "00296" "00468371" "00006" "Familial, autosomal dominant" "8.0y" "see paper; ..., posterior cataract; microcornea; no surgery" "" "" "" "" "" "" "" "" "CTRCT11" "cataract" "" "0000353524" "00296" "00468372" "00006" "Familial, autosomal dominant" "39.5y" "see paper; ..., cataract; nystagmus;" "" "" "" "" "" "" "" "" "CTRCT11" "cataract" "" ## Screenings ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065219" "00065077" "1" "01588" "01588" "2016-05-16 23:13:19" "00006" "2016-05-26 23:22:06" "microsat;SEQ;SSCA" "DNA" "" "" "0000065220" "00065078" "1" "01588" "01588" "2016-05-16 23:26:00" "00006" "2016-05-26 23:06:51" "microsat;SEQ" "DNA" "" "" "0000065221" "00065079" "1" "01588" "01588" "2016-05-16 23:46:45" "" "" "arraySNP" "DNA;protein" "" "" "0000065222" "00065080" "1" "01588" "01588" "2016-05-17 00:01:41" "" "" "arraySNP" "DNA;protein" "" "" "0000065223" "00065081" "1" "01588" "01588" "2016-05-17 00:04:17" "" "" "arraySNP" "DNA;protein" "" "" "0000065224" "00065082" "1" "01588" "01588" "2016-05-17 00:07:48" "" "" "arraySNP" "DNA;protein" "" "" "0000065226" "00065083" "1" "01588" "01588" "2016-05-17 00:10:12" "" "" "arraySNP" "DNA;protein" "" "" "0000065228" "00065084" "1" "01588" "01588" "2016-05-17 00:12:58" "" "" "arraySNP" "DNA;protein" "" "" "0000065230" "00065085" "1" "01588" "01588" "2016-05-17 00:15:29" "" "" "arraySNP" "DNA;protein" "" "" "0000065232" "00065086" "1" "01588" "01588" "2016-05-17 00:17:44" "" "" "arraySNP" "DNA;protein" "" "" "0000065234" "00065087" "1" "01588" "01588" "2016-05-17 00:20:21" "" "" "arraySNP" "DNA;protein" "" "" "0000065235" "00065088" "1" "01588" "01588" "2016-05-17 00:22:57" "00006" "2016-06-18 10:09:23" "SEQ" "DNA;protein" "" "" "0000065236" "00065089" "1" "01588" "01588" "2016-05-17 00:24:43" "" "" "arraySNP" "DNA;protein" "" "" "0000065237" "00065090" "1" "01588" "01588" "2016-05-17 00:27:51" "00006" "2016-06-18 10:10:00" "SEQ" "DNA;protein" "" "" "0000065238" "00065091" "1" "01588" "01588" "2016-05-17 00:30:59" "00006" "2016-06-18 10:10:55" "SEQ" "DNA;protein" "" "" "0000065240" "00065092" "1" "01588" "01588" "2016-05-17 00:33:09" "00006" "2016-06-18 10:08:47" "SEQ" "DNA;protein" "" "" "0000065242" "00065093" "1" "01588" "01588" "2016-05-17 00:35:31" "00006" "2016-06-18 10:11:31" "SEQ" "DNA;protein" "" "" "0000065244" "00065094" "1" "01588" "01588" "2016-05-17 00:37:51" "00006" "2016-06-18 09:41:41" "SEQ" "DNA;protein" "" "" "0000100824" "00100419" "1" "00569" "00569" "2017-02-20 10:34:43" "" "" "PCR" "DNA" "" "" "0000100825" "00100420" "1" "00569" "00569" "2017-02-21 11:48:35" "" "" "PCR" "DNA" "" "" "0000100826" "00100422" "1" "00569" "00569" "2017-02-21 11:52:57" "" "" "PCR" "DNA" "" "" "0000100827" "00100423" "1" "00569" "00569" "2017-02-21 11:56:38" "" "" "PCR" "DNA" "" "" "0000100828" "00100424" "1" "00569" "00569" "2017-02-21 11:59:09" "" "" "PCR" "DNA" "" "" "0000333322" "00332102" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000386709" "00385480" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "114 genes panel tested" "0000386755" "00385526" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "144 genes panel tested" "0000435597" "00434130" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435598" "00434131" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435599" "00434132" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435651" "00434183" "1" "00006" "00006" "2023-03-21 17:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435664" "00434196" "1" "00006" "00006" "2023-03-21 18:38:38" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435720" "00434252" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS" "0000443365" "00441880" "1" "00006" "00006" "2023-11-14 15:39:32" "" "" "arraySNP;SEQ" "DNA" "" "" "0000448079" "00446506" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448080" "00446507" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000470037" "00468371" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000470038" "00468372" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{geneid}}" "0000065219" "PITX3" "0000065220" "PITX3" "0000065221" "PITX3" "0000065222" "PITX3" "0000065223" "PITX3" "0000065224" "PITX3" "0000065226" "PITX3" "0000065228" "PITX3" "0000065230" "PITX3" "0000065232" "PITX3" "0000065234" "PITX3" "0000065235" "PITX3" "0000065236" "PITX3" "0000065237" "PITX3" "0000065238" "PITX3" "0000065240" "PITX3" "0000065242" "PITX3" "0000065244" "PITX3" "0000100824" "PITX3" "0000100825" "PITX3" "0000100826" "PITX3" "0000100827" "PITX3" "0000100828" "PITX3" "0000333322" "PITX3" "0000386709" "PITX3" "0000386755" "PITX3" "0000443365" "PITX3" ## 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 = 53 "{{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}}" "0000096890" "1" "90" "10" "103990535" "103990551" "dup" "0" "01588" "PITX3_000002" "g.103990535_103990551dup" "" "{PMID:Semina 1998:09620774}" "" "" "not in 300 control chromosomes" "Germline" "yes" "" "0" "" "" "g.102230778_102230794dup" "" "pathogenic" "" "0000096891" "0" "70" "10" "103991800" "103991800" "subst" "4.43581E-6" "01588" "PITX3_000001" "g.103991800C>T" "" "{PMID:Semina 1998:09620774}" "" "94G>A" "mapped by linkage; not in 600 control chromosomes; de novo in mother" "Germline" "yes" "" "0" "" "" "g.102232043C>T" "" "likely pathogenic" "" "0000096892" "0" "70" "10" "103990535" "103990551" "dup" "0" "01588" "PITX3_000002" "g.103990535_103990551dup" "" "{PMID:Berry 2004:15286169}" "" "657–673dup17" "" "Germline" "yes" "" "0" "" "" "g.102230778_102230794dup" "" "likely pathogenic" "" "0000096893" "0" "70" "10" "103990535" "103990551" "dup" "0" "01588" "PITX3_000002" "g.103990535_103990551dup" "" "{PMID:Berry 2004:15286169}" "" "657–673dup17" "" "Germline" "yes" "" "0" "" "" "g.102230778_102230794dup" "" "likely pathogenic" "" "0000096894" "0" "70" "10" "103990535" "103990551" "dup" "0" "01588" "PITX3_000002" "g.103990535_103990551dup" "" "{PMID:Berry 2004:15286169}" "" "657–673dup17" "" "Germline" "yes" "" "0" "" "" "g.102230778_102230794dup" "" "likely pathogenic" "" "0000096895" "0" "70" "10" "103990535" "103990551" "dup" "0" "01588" "PITX3_000002" "g.103990535_103990551dup" "" "{PMID:Berry 2004:15286169}" "" "657–673dup17" "" "Germline" "yes" "" "0" "" "" "g.102230778_102230794dup" "" "likely pathogenic" "" "0000096896" "0" "70" "10" "103990532" "103990532" "del" "0" "01588" "PITX3_000004" "g.103990532del" "" "{PMID:Berry 2004:15286169}" "" "650delG (p.Gly217AlafsX91)" "" "Germline" "yes" "" "0" "" "" "g.102230775del" "" "likely pathogenic" "" "0000096897" "0" "70" "10" "103990535" "103990551" "dup" "0" "01588" "PITX3_000002" "g.103990535_103990551dup" "" "{PMID:Finzi 2005:16272057}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102230778_102230794dup" "" "likely pathogenic" "" "0000096898" "0" "70" "10" "103990532" "103990532" "del" "0" "01588" "PITX3_000004" "g.103990532del" "" "{PMID:Bidinost 2006:16565358}" "" "650delG (p.Gly217AlafsX91)" "" "Germline" "yes" "" "0" "" "" "g.102230775del" "" "likely pathogenic" "" "0000096899" "0" "70" "10" "103990535" "103990551" "dup" "0" "01588" "PITX3_000002" "g.103990535_103990551dup" "" "{PMID:Burdon 2006:16636655}" "" "657ins17" "" "Germline" "yes" "" "0" "" "" "g.102230778_102230794dup" "" "likely pathogenic" "" "0000096900" "0" "70" "10" "103990535" "103990551" "dup" "0" "01588" "PITX3_000002" "g.103990535_103990551dup" "" "{PMID:Summers 2008:18989383}" "" "657ins17" "" "Germline" "yes" "" "0" "" "" "g.102230778_102230794dup" "" "likely pathogenic" "" "0000096901" "0" "70" "10" "103990535" "103990551" "dup" "0" "01588" "PITX3_000002" "g.103990535_103990551dup" "" "{PMID:Summers 2008:18989383}" "" "657ins17" "" "Germline" "yes" "" "0" "" "" "g.102230778_102230794dup" "" "likely pathogenic" "" "0000096902" "1" "90" "10" "103990535" "103990551" "dup" "0" "01588" "PITX3_000002" "g.103990535_103990551dup" "" "{PMID:Verdin 2014:24555714}, {DOI:Verdin 2014:10.1186/1750-1172-9-26}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102230778_102230794dup" "" "pathogenic" "" "0000096903" "0" "70" "10" "103990639" "103990639" "del" "0" "01588" "PITX3_000006" "g.103990639del" "" "{PMID:Berry 2011:21633712}" "" "" "" "Germline" "" "" "0" "" "" "g.102230882del" "" "likely pathogenic" "" "0000096904" "1" "90" "10" "103990535" "103990551" "dup" "0" "01588" "PITX3_000002" "g.103990535_103990551dup" "" "{PMID:Verdin 2014:24555714}, {DOI:Verdin 2014:10.1186/1750-1172-9-26}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102230778_102230794dup" "" "pathogenic" "" "0000096905" "1" "90" "10" "103990535" "103990551" "dup" "0" "01588" "PITX3_000002" "g.103990535_103990551dup" "" "{PMID:Verdin 2014:24555714}, {DOI:Verdin 2014:10.1186/1750-1172-9-26}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102230778_102230794dup" "" "pathogenic" "" "0000096906" "1" "70" "10" "103990535" "103990551" "dup" "0" "01588" "PITX3_000002" "g.103990535_103990551dup" "" "{PMID:Verdin 2014:24555714}, {DOI:Verdin 2014:10.1186/1750-1172-9-26}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102230778_102230794dup" "" "likely pathogenic" "" "0000096907" "1" "90" "10" "103990535" "103990551" "dup" "0" "01588" "PITX3_000002" "g.103990535_103990551dup" "" "{PMID:Verdin 2014:24555714}, {DOI:Verdin 2014:10.1186/1750-1172-9-26}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102230778_102230794dup" "" "pathogenic" "" "0000096908" "11" "90" "10" "103990609" "103990609" "del" "0" "01588" "PITX3_000005" "g.103990609del" "" "{PMID:Verdin 2014:24555714}, {DOI:Verdin 2014:10.1186/1750-1172-9-26}" "" "573delC" "" "Germline" "yes" "" "0" "" "" "g.102230852del" "" "pathogenic" "" "0000117571" "0" "90" "10" "103990609" "103990609" "del" "0" "00006" "PITX3_000005" "g.103990609del" "" "{PMID:Verdin 2014:24555714}, {DOI:Verdin 2014:10.1186/1750-1172-9-26}" "" "" "IHC shows retained nuclear localization; pcDNA3.1 in vitro expression cloning in B3 cells shows decreased DNA-binding, luciferase assay in lens epithelial cells shows reduced (0.17) transactivation activity" "In vitro (cloned)" "-" "" "0" "" "" "g.102230852del" "" "NA" "" "0000117572" "0" "90" "10" "103990535" "103990551" "dup" "0" "00006" "PITX3_000002" "g.103990535_103990551dup" "" "{PMID:Verdin 2014:24555714}, {DOI:Verdin 2014:10.1186/1750-1172-9-26}" "" "" "IHC shows retained nuclear localization; pcDNA3.1 in vitro expression cloning in B3 cells shows decreased DNA-binding, luciferase assay in lens epithelial cells shows reduced (0.32) transactivation activity" "In vitro (cloned)" "-" "" "0" "" "" "g.102230778_102230794dup" "" "NA" "" "0000163210" "0" "70" "10" "103990535" "103990551" "dup" "0" "00569" "PITX3_000002" "g.103990535_103990551dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.102230778_102230794dup" "" "likely pathogenic" "" "0000163211" "0" "70" "10" "103990517" "103990517" "del" "0" "00569" "PITX3_000008" "g.103990517del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.102230760del" "" "likely pathogenic" "" "0000163212" "0" "70" "10" "103990598" "103990598" "del" "0" "00569" "PITX3_000007" "g.103990598del" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.102230841del" "" "likely pathogenic" "" "0000163213" "0" "70" "10" "103991800" "103991800" "subst" "4.43581E-6" "00569" "PITX3_000001" "g.103991800C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.102232043C>T" "" "likely pathogenic" "" "0000163214" "0" "70" "10" "103990535" "103990551" "dup" "0" "00569" "PITX3_000002" "g.103990535_103990551dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.102230778_102230794dup" "" "likely pathogenic" "" "0000296986" "0" "10" "10" "103991381" "103991381" "subst" "0.615857" "02325" "PITX3_000010" "g.103991381G>A" "" "" "" "PITX3(NM_005029.4):c.285C>T (p.I95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102231624G>A" "" "benign" "" "0000305701" "0" "30" "10" "103990519" "103990519" "subst" "0" "01943" "PITX3_000009" "g.103990519C>T" "" "" "" "PITX3(NM_005029.3):c.661G>A (p.G221S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102230762C>T" "" "likely benign" "" "0000348807" "0" "50" "10" "103990602" "103990602" "subst" "0" "02327" "PITX3_000011" "g.103990602G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102230845G>C" "" "VUS" "" "0000538951" "0" "50" "10" "103987411" "103987411" "subst" "3.25103E-5" "01804" "ELOVL3_000001" "g.103987411T>C" "" "" "" "ELOVL3(NM_152310.1):c.130T>C (p.(Tyr44His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102227654T>C" "" "VUS" "" "0000538952" "0" "50" "10" "103990530" "103990530" "subst" "0" "01943" "PITX3_000022" "g.103990530C>T" "" "" "" "PITX3(NM_005029.3):c.650G>A (p.G217D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102230773C>T" "" "VUS" "" "0000538953" "0" "30" "10" "104001081" "104001084" "del" "0" "01804" "GBF1_000001" "g.104001081_104001084del" "" "" "" "PITX3(NM_005029.3):c.-13+8_-13+11del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102241324_102241327del" "" "likely benign" "" "0000722649" "0" "50" "10" "103990535" "103990551" "del" "0" "02329" "PITX3_000003" "g.103990535_103990551del" "" "" "" "PITX3(NM_005029.3):c.640_656delGCCCTGCAGGGCCTGGG (p.(Ala214fs)), PITX3(NM_005029.4):c.640_656delGCCCTGCAGGGCCTGGG (p.A214Rfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730893" "3" "90" "10" "103990535" "103990551" "del" "0" "00000" "PITX3_000003" "g.103990535_103990551del" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.102230778_102230794del" "" "pathogenic (recessive)" "" "0000814389" "0" "90" "10" "103990535" "103990551" "del" "0" "00000" "PITX3_000003" "g.103990535_103990551del" "" "{PMID:Lenassi 2020:31848469}" "" "PITX3 c.640_656del p.(Ala214ArgfsTer42) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.102230778_102230794del" "" "pathogenic" "ACMG" "0000814435" "0" "90" "10" "103990535" "103990551" "dup" "0" "00000" "PITX3_000002" "g.103990535_103990551dup" "" "{PMID:Lenassi 2020:31848469}" "" "PITX3 c.640_656dup p.(Gly220ProfsTer95) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.102230778_102230794dup" "" "pathogenic" "ACMG" "0000852368" "0" "30" "10" "103990481" "103990481" "subst" "5.93703E-5" "01943" "PITX3_000024" "g.103990481C>T" "" "" "" "PITX3(NM_005029.3):c.699G>A (p.G233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861797" "0" "50" "10" "103990749" "103990749" "subst" "1.37078E-5" "01943" "PITX3_000025" "g.103990749T>C" "" "" "" "PITX3(NM_005029.3):c.431A>G (p.Y144C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000921661" "3" "30" "10" "103991381" "103991381" "subst" "0.615857" "00006" "PITX3_000010" "g.103991381G>A" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs2281983" "0" "" "" "g.102231624G>A" "" "likely benign" "" "0000921690" "3" "30" "10" "103991381" "103991381" "subst" "0.615857" "00006" "PITX3_000010" "g.103991381G>A" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs2281983" "0" "" "" "g.102231624G>A" "" "likely benign" "" "0000921715" "3" "30" "10" "103991381" "103991381" "subst" "0.615857" "00006" "PITX3_000010" "g.103991381G>A" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs2281983" "0" "" "" "g.102231624G>A" "" "likely benign" "" "0000921812" "11" "70" "10" "103990535" "103990551" "del" "0" "00006" "PITX3_000003" "g.103990535_103990551del" "" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "640_656delGCCCTGCAGGGCCTGGG" "" "Germline" "" "" "0" "" "" "g.102230778_102230794del" "" "likely pathogenic (dominant)" "" "0000921826" "0" "90" "10" "103990535" "103990551" "dup" "0" "00006" "PITX3_000002" "g.103990535_103990551dup" "" "{PMID:Zhang 2018:30078984}" "" "656_657insGCCCTGCAGGGCCTGGG" "" "Germline" "" "" "0" "" "" "g.102230778_102230794dup" "" "pathogenic (dominant)" "" "0000921893" "0" "90" "10" "103990395" "103990395" "subst" "0" "00006" "PITX3_000012" "g.103990395G>T" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.102230638G>T" "" "pathogenic (dominant)" "" "0000944778" "3" "90" "10" "103990535" "103990551" "del" "0" "00006" "PITX3_000003" "g.103990535_103990551del" "" "{PMID:Aldahmesh 2011:21836522}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102230778_102230794del" "" "pathogenic (recessive)" "" "0000957459" "11" "70" "10" "103990370" "103990387" "del" "0" "00006" "PITX3_000026" "g.103990370_103990387del" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102230613_102230630del" "" "likely pathogenic (dominant)" "" "0000957460" "0" "70" "10" "103990370" "103990387" "del" "0" "00006" "PITX3_000026" "g.103990370_103990387del" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102230613_102230630del" "" "likely pathogenic (dominant)" "" "0000998064" "0" "50" "10" "103990454" "103990456" "dup" "0" "01804" "ELOVL3_000002" "g.103990454_103990456dup" "" "" "" "PITX3(NM_005029.3):c.738_740dupCGC (p.(Ala247dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998065" "0" "50" "10" "103990535" "103990551" "del" "0" "01804" "PITX3_000003" "g.103990535_103990551del" "" "" "" "PITX3(NM_005029.3):c.640_656delGCCCTGCAGGGCCTGGG (p.(Ala214fs)), PITX3(NM_005029.4):c.640_656delGCCCTGCAGGGCCTGGG (p.A214Rfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037691" "0" "50" "10" "103990693" "103990693" "subst" "3.05338E-5" "01804" "ELOVL3_000003" "g.103990693G>T" "" "" "" "PITX3(NM_005029.4):c.487C>A (p.(Pro163Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053690" "0" "50" "10" "103991397" "103991397" "subst" "1.65993E-5" "01804" "ELOVL3_000004" "g.103991397C>G" "" "" "" "PITX3(NM_005029.4):c.269G>C (p.(Ser90Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058118" "0" "70" "10" "103990535" "103990551" "del" "0" "00006" "PITX3_000003" "g.103990535_103990551del" "" "{PMID:Guo 2025:40449652}" "" "" "" "Germline" "" "" "0" "" "" "g.102230778_102230794del" "" "likely pathogenic (dominant)" "" "0001058119" "0" "70" "10" "103990535" "103990551" "del" "0" "00006" "PITX3_000003" "g.103990535_103990551del" "" "{PMID:Guo 2025:40449652}" "" "" "" "Germline" "" "" "0" "" "" "g.102230778_102230794del" "" "likely pathogenic (dominant)" "" ## 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 PITX3 ## Count = 53 "{{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}}" "0000096890" "00016224" "90" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.(Gly220Profs*95)" "4" "0000096891" "00016224" "70" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Ser13Asn)" "2" "0000096892" "00016224" "70" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.(Gly220Profs*95)" "4" "0000096893" "00016224" "70" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.(Gly220Profs*95)" "4" "0000096894" "00016224" "70" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.(Gly220Profs*95)" "4" "0000096895" "00016224" "70" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.(Gly220Profs*95)" "4" "0000096896" "00016224" "70" "650" "0" "650" "0" "c.650del" "r.(?)" "p.(Gly217Alafs*92)" "4" "0000096897" "00016224" "70" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.(Gly220Profs*95)" "4" "0000096898" "00016224" "70" "650" "0" "650" "0" "c.650del" "r.(?)" "p.(Gly217Alafs*92)" "4" "0000096899" "00016224" "70" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.(Gly220Profs*95)" "4" "0000096900" "00016224" "70" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.(Gly220Profs*95)" "4" "0000096901" "00016224" "70" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.(Gly220Profs*95)" "4" "0000096902" "00016224" "70" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.(Gly220Profs*95)" "4" "0000096903" "00016224" "70" "542" "0" "542" "0" "c.542del" "r.(?)" "p.(Pro181Leufs*128)" "" "0000096904" "00016224" "90" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.(Gly220Profs*95)" "4" "0000096905" "00016224" "90" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.(Gly220Profs*95)" "4" "0000096906" "00016224" "90" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.(Gly220Profs*95)" "4" "0000096907" "00016224" "90" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.(Gly220Profs*95)" "4" "0000096908" "00016224" "90" "573" "0" "573" "0" "c.573del" "r.(?)" "p.(Ser192Alafs*117)" "4" "0000117571" "00016224" "90" "573" "0" "573" "0" "c.573del" "r.(?)" "p.Ser192Alafs*117" "4" "0000117572" "00016224" "90" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.Gly220Profs*95" "4" "0000163210" "00016224" "70" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.(Gly220Profs*95)" "4" "0000163211" "00016224" "70" "669" "0" "669" "0" "c.669del" "r.(?)" "p.(Leu225Trpfs*84)" "4" "0000163212" "00016224" "70" "582" "0" "582" "0" "c.582del" "r.(?)" "p.(Ile194Metfs*115)" "4" "0000163213" "00016224" "70" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Ser13Asn)" "2" "0000163214" "00016224" "70" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.(Gly220Profs*95)" "4" "0000296986" "00016224" "10" "285" "0" "285" "0" "c.285C>T" "r.(?)" "p.(Ile95=)" "" "0000305701" "00016224" "30" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Gly221Ser)" "" "0000348807" "00016224" "50" "578" "0" "578" "0" "c.578C>G" "r.(?)" "p.(Ser193Cys)" "" "0000538951" "00016224" "50" "3769" "0" "3769" "0" "c.*2860A>G" "r.(=)" "p.(=)" "" "0000538952" "00016224" "50" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Gly217Asp)" "" "0000538953" "00016224" "30" "-13" "8" "-13" "11" "c.-13+8_-13+11del" "r.(=)" "p.(=)" "" "0000722649" "00016224" "50" "640" "0" "656" "0" "c.640_656del" "r.(?)" "p.(Ala214ArgfsTer42)" "" "0000730893" "00016224" "90" "640" "0" "656" "0" "c.640_656del" "r.(?)" "p.(Ala214Argfs*42)" "" "0000814389" "00016224" "90" "640" "0" "656" "0" "c.640_656del" "r.(?)" "p.(Ala214ArgfsTer42)" "" "0000814435" "00016224" "90" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.(Gly220ProfsTer95)" "" "0000852368" "00016224" "30" "699" "0" "699" "0" "c.699G>A" "r.(?)" "p.(Gly233=)" "" "0000861797" "00016224" "50" "431" "0" "431" "0" "c.431A>G" "r.(?)" "p.(Tyr144Cys)" "" "0000921661" "00016224" "30" "285" "0" "285" "0" "c.285C>T" "r.(?)" "p.(Ile95=)" "" "0000921690" "00016224" "30" "285" "0" "285" "0" "c.285C>T" "r.(?)" "p.(Ile95=)" "" "0000921715" "00016224" "30" "285" "0" "285" "0" "c.285C>T" "r.(?)" "p.(Ile95=)" "" "0000921812" "00016224" "70" "640" "0" "656" "0" "c.640_656del" "r.(?)" "p.(Ala214ArgfsTer42)" "" "0000921826" "00016224" "90" "640" "0" "656" "0" "c.640_656dup" "r.(?)" "p.(Gly220ProfsTer95)" "" "0000921893" "00016224" "90" "785" "0" "785" "0" "c.785C>A" "r.(?)" "p.(Ser262Ter)" "" "0000944778" "00016224" "90" "640" "0" "656" "0" "c.640_656del" "r.(?)" "p.(Ala214Argfs*42)" "" "0000957459" "00016224" "70" "797" "0" "814" "0" "c.797_814del" "r.(?)" "p.(Ser266_Ala271del)" "" "0000957460" "00016224" "70" "797" "0" "814" "0" "c.797_814del" "r.(?)" "p.(Ser266_Ala271del)" "" "0000998064" "00016224" "50" "738" "0" "740" "0" "c.738_740dup" "r.(?)" "p.(Ala250dup)" "" "0000998065" "00016224" "50" "640" "0" "656" "0" "c.640_656del" "r.(?)" "p.(Ala214ArgfsTer42)" "" "0001037691" "00016224" "50" "487" "0" "487" "0" "c.487C>A" "r.(?)" "p.(Pro163Thr)" "" "0001053690" "00016224" "50" "269" "0" "269" "0" "c.269G>C" "r.(?)" "p.(Ser90Thr)" "" "0001058118" "00016224" "70" "640" "0" "656" "0" "c.640_656del" "r.(?)" "p.(Ala214ArgfsTer42)" "" "0001058119" "00016224" "70" "640" "0" "656" "0" "c.640_656del" "r.(?)" "p.(Ala214ArgfsTer42)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{variantid}}" "0000065219" "0000096890" "0000065220" "0000096891" "0000065221" "0000096892" "0000065222" "0000096893" "0000065223" "0000096894" "0000065224" "0000096895" "0000065226" "0000096896" "0000065228" "0000096897" "0000065230" "0000096898" "0000065232" "0000096899" "0000065234" "0000096900" "0000065234" "0000096901" "0000065235" "0000096902" "0000065236" "0000096903" "0000065237" "0000096904" "0000065238" "0000096905" "0000065240" "0000096906" "0000065242" "0000096907" "0000065244" "0000096908" "0000100824" "0000163210" "0000100825" "0000163211" "0000100826" "0000163212" "0000100827" "0000163213" "0000100828" "0000163214" "0000333322" "0000730893" "0000386709" "0000814389" "0000386755" "0000814435" "0000435597" "0000921661" "0000435598" "0000921690" "0000435599" "0000921715" "0000435651" "0000921812" "0000435664" "0000921826" "0000435720" "0000921893" "0000443365" "0000944778" "0000448079" "0000957459" "0000448080" "0000957460" "0000470037" "0001058118" "0000470038" "0001058119"