### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PHKA2) # 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}}" "PHKA2" "phosphorylase kinase, alpha 2 (liver)" "X" "p22.2-p22.1" "unknown" "NG_016622.1" "UD_132085323882" "" "https://www.LOVD.nl/PHKA1" "" "1" "8926" "5256" "300798" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PHKA2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2021-02-03 15:13:31" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001337" "PHKA2" "phosphorylase kinase, alpha 2 (liver)" "001" "NM_000292.2" "" "NP_000283.1" "" "" "" "-430" "4895" "3708" "18910416" "19002480" "00000" "2012-09-13 13:27:17" "" "" ## 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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02235" "GSD9A1" "storage disease, glycogen, type IXa1" "XLR" "306000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04216" "GSD" "storage disease, glycogen (GSD)" "" "" "" "" "" "00006" "2015-03-05 15:32:25" "" "" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05533" "MR;ID" "mental retardation (MR, intellectual disability (ID))" "" "" "" "" "" "00006" "2018-12-18 09:22:07" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PHKA2" "02235" "PHKA2" "04216" ## Individuals ## Do not remove or alter this header ## ## Count = 52 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00222942" "" "" "" "1" "" "02976" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00222943" "" "" "" "1" "" "02976" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00222944" "" "" "" "1" "" "02976" "" "" "M" "" "Australia" "" "0" "" "" "" "" "00222945" "" "" "" "1" "" "02976" "" "" "M" "" "Australia" "" "0" "" "" "" "" "00222946" "" "" "" "1" "" "02976" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00222947" "" "" "" "2" "" "00000" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "0" "" "" "" "" "00222948" "" "" "" "1" "" "00000" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "0" "" "" "" "" "00222949" "" "" "" "1" "" "00000" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "0" "" "" "" "" "00222950" "" "" "" "1" "" "00000" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "0" "" "" "" "" "00222951" "" "" "" "2" "" "00000" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "0" "" "" "" "" "00222952" "" "" "" "1" "" "00000" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "0" "" "" "" "" "00222953" "" "" "" "1" "" "00000" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "0" "" "" "" "" "00222954" "" "" "" "1" "" "00000" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "0" "" "" "" "" "00222955" "" "" "" "1" "" "00000" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "0" "" "" "" "" "00245761" "" "" "" "1" "" "01836" "" "" "M" "no" "" "" "0" "" "" "" "RM208" "00295010" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00312530" "" "" "" "1" "" "02551" "" "" "M" "" "" "" "0" "" "" "" "" "00329034" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "France" "" "0" "" "" "" "Pat1" "00329037" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat12" "00329038" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat13" "00329039" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat14" "00329040" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat15" "00329041" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat16" "00329042" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat17" "00329043" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "France" "" "0" "" "" "" "Pat2" "00329044" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat20" "00329045" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat21" "00329046" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat22" "00329047" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat23" "00329048" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat24" "00329049" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat25" "00329050" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat26" "00329051" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat27" "00329053" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat30" "00329054" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat31" "00329055" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat32" "00329056" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat33" "00329057" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat34" "00329058" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat35" "00329059" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat36" "00329060" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat37" "00329065" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "F" "" "France" "" "0" "" "" "" "Pat41" "00329077" "" "" "" "1" "" "00000" "{PMID:Wang 2013:22899091}" "" "M" "" "United States" "" "0" "" "" "" "P6" "00329078" "" "" "" "1" "" "00000" "{PMID:Wang 2013:22899091}" "" "F" "" "United States" "" "0" "" "" "" "P7" "00329086" "" "" "" "1" "" "00000" "{PMID:Wang 2013:22899091}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "P19" "00329087" "" "" "" "1" "" "00000" "{PMID:Wang 2013:22899091}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "United States" "" "0" "" "" "" "P20" "00329088" "" "" "" "1" "" "00000" "{PMID:Wang 2013:22899091}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "United States" "" "0" "" "" "" "P21" "00438638" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0119" "00454545" "" "" "" "1" "" "00006" "{PMID:Xie 2024:39198981}" "family" "M" "" "China" "" "0" "" "not treated" "" "Pat290" "00464298" "" "" "" "1" "" "04409" "" "" "M" "no" "China" "" "" "" "" "Chinese" "R111" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 52 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00222942" "02235" "00222943" "02235" "00222944" "02235" "00222945" "02235" "00222946" "02235" "00222947" "00198" "00222948" "00198" "00222949" "00198" "00222950" "00198" "00222951" "00198" "00222952" "00198" "00222953" "00198" "00222954" "00198" "00222955" "00198" "00245761" "05533" "00295010" "00198" "00312530" "00198" "00329034" "04216" "00329037" "04216" "00329038" "04216" "00329039" "04216" "00329040" "04216" "00329041" "04216" "00329042" "04216" "00329043" "04216" "00329044" "04216" "00329045" "04216" "00329046" "04216" "00329047" "04216" "00329048" "04216" "00329049" "04216" "00329050" "04216" "00329051" "04216" "00329053" "04216" "00329054" "04216" "00329055" "04216" "00329056" "04216" "00329057" "04216" "00329058" "04216" "00329059" "04216" "00329060" "04216" "00329065" "04216" "00329077" "04216" "00329078" "04216" "00329086" "04216" "00329087" "04216" "00329088" "04216" "00438638" "06906" "00454545" "05121" "00464298" "02235" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 02235, 04216, 05121, 05533, 06906 ## Count = 45 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000168062" "00198" "00222947" "00008" "Unknown" "" "mental retardation, X-linked (MRX)" "" "" "" "" "" "" "" "" "" "" "" "0000168063" "00198" "00222948" "00008" "Unknown" "" "mental retardation, X-linked (MRX)" "" "" "" "" "" "" "" "" "" "" "" "0000168064" "00198" "00222949" "00008" "Unknown" "" "mental retardation, X-linked (MRX)" "" "" "" "" "" "" "" "" "" "" "" "0000168065" "00198" "00222950" "00008" "Unknown" "" "mental retardation, X-linked (MRX)" "" "" "" "" "" "" "" "" "" "" "" "0000168066" "00198" "00222951" "00008" "Unknown" "" "mental retardation, X-linked (MRX)" "" "" "" "" "" "" "" "" "" "" "" "0000168067" "00198" "00222952" "00008" "Unknown" "" "mental retardation, X-linked (MRX)" "" "" "" "" "" "" "" "" "" "" "" "0000168068" "00198" "00222953" "00008" "Unknown" "" "mental retardation, X-linked (MRX)" "" "" "" "" "" "" "" "" "" "" "" "0000168069" "00198" "00222954" "00008" "Unknown" "" "mental retardation, X-linked (MRX)" "" "" "" "" "" "" "" "" "" "" "" "0000168070" "00198" "00222955" "00008" "Unknown" "" "mental retardation, X-linked (MRX)" "" "" "" "" "" "" "" "" "" "" "" "0000237625" "00198" "00312530" "02551" "Unknown" "" "Abnormality of the liver (HP:0001392)" "" "" "" "" "" "" "" "" "" "" "" "0000247231" "04216" "00329034" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247234" "04216" "00329037" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG1 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247235" "04216" "00329038" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG1 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247236" "04216" "00329039" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG1 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247237" "04216" "00329040" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG1 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247238" "04216" "00329041" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG1 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247239" "04216" "00329042" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG1 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247240" "04216" "00329043" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247241" "04216" "00329044" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG1 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247242" "04216" "00329045" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG1 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247243" "04216" "00329046" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG1 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247244" "04216" "00329047" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG1 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247245" "04216" "00329048" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG1 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247246" "04216" "00329049" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG1 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247247" "04216" "00329050" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG2 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247248" "04216" "00329051" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG2 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247250" "04216" "00329053" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG2 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247251" "04216" "00329054" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG2 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247252" "04216" "00329055" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG2 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247253" "04216" "00329056" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG2 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247254" "04216" "00329057" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG2 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247255" "04216" "00329058" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG2 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247256" "04216" "00329059" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG2 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247257" "04216" "00329060" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG? profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247262" "04216" "00329065" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247274" "04216" "00329077" "00000" "Familial, X-linked recessive" "1y" "see paper; ..., hypoglycemia, hepatomegaly, elevated lactate" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247275" "04216" "00329078" "00000" "Familial, X-linked recessive" "3y" "see paper; ..., hypoglycemia, hepatomegaly, enzymes, low PhK activity" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247283" "04216" "00329086" "00000" "Familial, X-linked recessive" "12y" "see paper; ..., GSD IX" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247284" "04216" "00329087" "00000" "Familial, X-linked recessive" "4y" "see paper; ..., hepatomegaly, abnormal liver function, GSD VI or IX?" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247285" "04216" "00329088" "00000" "Familial, X-linked recessive" "3y" "see paper; ..., hepatomegaly, abnormal liver function, EM and LM suggesting GSD IX" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000328541" "06906" "00438638" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000343200" "05121" "00454545" "00006" "Familial, X-linked recessive" "" "Hepatic dysfunction; positive Gowers\' sign; hypertrophy gastrocnemius; limb muscle force 4; 10m walk 5.36 sec; elevated serum CK level (3107 U/L); positive family history" "3y" "" "" "" "" "" "" "" "GSD9A1" "BMD/DMD" "" "0000350374" "02235" "00464298" "04409" "Familial, X-linked recessive" "08y" "Weakness of limbs and easy to fall for 1 year, increased creatine kinase." "" "" "" "Xinhua Hospital" "" "" "" "" "muscular disease" "muscular disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 52 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000224017" "00222942" "1" "02976" "02976" "2012-01-21 12:53:29" "" "" "SEQ" "DNA" "" "" "0000224018" "00222943" "1" "02976" "02976" "2012-01-21 12:53:29" "" "" "SEQ" "DNA" "" "" "0000224019" "00222944" "1" "02976" "02976" "2012-01-21 12:53:29" "" "" "SEQ" "DNA" "" "" "0000224020" "00222945" "1" "02976" "02976" "2012-01-21 12:53:29" "" "" "SEQ" "DNA" "" "" "0000224021" "00222946" "1" "02976" "02976" "2012-01-21 12:53:29" "" "" "SEQ" "DNA" "" "" "0000224022" "00222947" "1" "00000" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000224023" "00222948" "1" "00000" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000224024" "00222949" "1" "00000" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000224025" "00222950" "1" "00000" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000224026" "00222951" "1" "00000" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000224027" "00222952" "1" "00000" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000224028" "00222953" "1" "00000" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000224029" "00222954" "1" "00000" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000224030" "00222955" "1" "00000" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000246873" "00245761" "1" "01836" "01836" "2019-07-08 10:30:56" "" "" "arraySEQ" "DNA" "" "" "0000296178" "00295010" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000313702" "00312530" "1" "02551" "02551" "2020-10-02 13:59:54" "" "" "SEQ" "DNA" "" "" "0000330251" "00329034" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330254" "00329037" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330255" "00329038" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330256" "00329039" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330257" "00329040" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330258" "00329041" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330259" "00329042" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330260" "00329043" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330261" "00329044" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330262" "00329045" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330263" "00329046" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330264" "00329047" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330265" "00329048" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330266" "00329049" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330267" "00329050" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330268" "00329051" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330270" "00329053" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330271" "00329054" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330272" "00329055" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330273" "00329056" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330274" "00329057" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330275" "00329058" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330276" "00329059" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330277" "00329060" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330282" "00329065" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330294" "00329077" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330295" "00329078" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330303" "00329086" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330304" "00329087" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330305" "00329088" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000440120" "00438638" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000456158" "00454545" "1" "00006" "00006" "2024-09-13 17:19:08" "" "" "MLPA;SEQ-NG" "DNA" "" "" "0000465942" "00464298" "1" "04409" "04409" "2025-03-03 02:54:52" "" "" "SEQ-NG-RNA" "RNA" "whole blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 45 "{{screeningid}}" "{{geneid}}" "0000224017" "PHKA2" "0000224018" "PHKA2" "0000224019" "PHKA2" "0000224020" "PHKA2" "0000224021" "PHKA2" "0000224022" "PHKA2" "0000224023" "PHKA2" "0000224024" "PHKA2" "0000224025" "PHKA2" "0000224026" "PHKA2" "0000224027" "PHKA2" "0000224028" "PHKA2" "0000224029" "PHKA2" "0000224030" "PHKA2" "0000330251" "PYGL" "0000330254" "PHKA2" "0000330255" "PHKA2" "0000330256" "PHKA2" "0000330257" "PHKA2" "0000330258" "PHKA2" "0000330259" "PHKA2" "0000330260" "PYGL" "0000330261" "PHKA2" "0000330262" "PHKA2" "0000330263" "PHKA2" "0000330264" "PHKA2" "0000330265" "PHKA2" "0000330266" "PHKA2" "0000330267" "PHKA2" "0000330268" "PHKA2" "0000330270" "PHKA2" "0000330271" "PHKA2" "0000330272" "PHKA2" "0000330273" "PHKA2" "0000330274" "PHKA2" "0000330275" "PHKA2" "0000330276" "PHKA2" "0000330277" "PHKA2" "0000330282" "PHKB" "0000330294" "PHKA2" "0000330295" "PHKA2" "0000330303" "PHKA2" "0000330304" "PHKA2" "0000330305" "PHKA2" "0000465942" "PHKA2" ## 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 = 154 "{{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}}" "0000002829" "0" "50" "X" "18929128" "18929128" "del" "0" "00037" "PHKA2_000042" "g.18929128del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.18911010del" "" "VUS" "" "0000006456" "20" "50" "X" "18919558" "18919558" "subst" "0.00477023" "00037" "PHKA2_000039" "g.18919558A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.18901440A>C" "" "VUS" "" "0000006457" "20" "50" "X" "18954384" "18954384" "subst" "0" "00037" "PHKA2_000038" "g.18954384G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.18936266G>A" "" "VUS" "" "0000008509" "20" "50" "X" "18954384" "18954384" "subst" "0" "00037" "PHKA2_000038" "g.18954384G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.18936266G>A" "" "VUS" "" "0000010829" "0" "50" "X" "18910861" "18910861" "del" "0" "00037" "PHKA2_000041" "g.18910861del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.18892743del" "" "VUS" "" "0000010830" "20" "50" "X" "18929128" "18929128" "del" "0" "00037" "PHKA2_000042" "g.18929128del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.18911010del" "" "VUS" "" "0000010831" "0" "50" "X" "18970447" "18970447" "del" "0" "00037" "PHKA2_000040" "g.18970447del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.18952329del" "" "VUS" "" "0000014413" "20" "50" "X" "18919558" "18919558" "subst" "0.00477023" "00037" "PHKA2_000039" "g.18919558A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.18901440A>C" "" "VUS" "" "0000252384" "0" "70" "X" "18958144" "18958144" "subst" "0" "02326" "PHKA2_000031" "g.18958144A>G" "" "" "" "PHKA2(NM_000292.3):c.887T>C (p.F296S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18940026A>G" "" "likely pathogenic" "" "0000252571" "0" "90" "X" "18963213" "18963213" "subst" "0" "02326" "PHKA2_000034" "g.18963213A>G" "" "" "" "PHKA2(NM_000292.3):c.601T>C (p.S201P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18945095A>G" "" "pathogenic" "" "0000288691" "0" "30" "X" "19045364" "19045364" "subst" "0.000129326" "01943" "GPR64_000019" "g.19045364G>A" "" "" "" "GPR64(NM_001079858.2):c.443C>T (p.T148I, p.(Thr148Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19027246G>A" "" "likely benign" "" "0000296943" "0" "30" "X" "18944632" "18944632" "subst" "0.00209166" "02325" "PHKA2_000028" "g.18944632C>T" "" "" "" "PHKA2(NM_000292.2):c.1398G>A (p.A466=), PHKA2(NM_000292.3):c.1398G>A (p.A466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18926514C>T" "" "likely benign" "" "0000300747" "0" "90" "X" "18972476" "18972476" "subst" "0" "02326" "PHKA2_000036" "g.18972476G>A" "" "" "" "PHKA2(NM_000292.3):c.133C>T (p.R45W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18954358G>A" "" "pathogenic" "" "0000300748" "0" "70" "X" "18911698" "18911698" "subst" "0" "02326" "PHKA2_000045" "g.18911698G>T" "" "" "" "PHKA2(NM_000292.3):c.3613C>A (p.P1205T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18893580G>T" "" "likely pathogenic" "" "0000300749" "0" "90" "X" "18911697" "18911697" "subst" "0" "02326" "PHKA2_000044" "g.18911697G>A" "" "" "" "PHKA2(NM_000292.3):c.3614C>T (p.P1205L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18893579G>A" "" "pathogenic" "" "0000300750" "0" "70" "X" "18956809" "18956809" "subst" "0" "02326" "PHKA2_000030" "g.18956809C>T" "" "" "" "PHKA2(NM_000292.3):c.977G>A (p.C326Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18938691C>T" "" "likely pathogenic" "" "0000305545" "0" "30" "X" "18956761" "18956761" "subst" "5.5939E-6" "01943" "PHKA2_000029" "g.18956761C>T" "" "" "" "PHKA2(NM_000292.2):c.1025G>A (p.S342N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18938643C>T" "" "likely benign" "" "0000305546" "0" "30" "X" "18944632" "18944632" "subst" "0.00209166" "01943" "PHKA2_000028" "g.18944632C>T" "" "" "" "PHKA2(NM_000292.2):c.1398G>A (p.A466=), PHKA2(NM_000292.3):c.1398G>A (p.A466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18926514C>T" "" "likely benign" "" "0000305547" "0" "30" "X" "18942634" "18942634" "subst" "0.000566099" "01943" "PHKA2_000027" "g.18942634G>C" "" "" "" "PHKA2(NM_000292.2):c.1579C>G (p.Q527E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18924516G>C" "" "likely benign" "" "0000305548" "0" "50" "X" "18942577" "18942577" "subst" "2.23833E-5" "01943" "PHKA2_000025" "g.18942577C>T" "" "" "" "PHKA2(NM_000292.2):c.1636G>A (p.E546K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18924459C>T" "" "VUS" "" "0000305549" "0" "50" "X" "18929036" "18929036" "subst" "0" "01943" "PHKA2_000018" "g.18929036C>T" "" "" "" "PHKA2(NM_000292.2):c.2180G>A (p.R727H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18910918C>T" "" "VUS" "" "0000305550" "0" "30" "X" "18913262" "18913262" "subst" "1.67781E-5" "01943" "PHKA2_000015" "g.18913262G>A" "" "" "" "PHKA2(NM_000292.2):c.3330C>T (p.T1110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18895144G>A" "" "likely benign" "" "0000305551" "0" "50" "X" "18912416" "18912416" "subst" "7.86353E-5" "01943" "PHKA2_000046" "g.18912416G>A" "" "" "" "PHKA2(NM_000292.2):c.3443C>T (p.T1148M), PHKA2(NM_000292.3):c.3443C>T (p.T1148M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18894298G>A" "" "VUS" "" "0000333332" "0" "30" "X" "18911646" "18911646" "subst" "5.59334E-5" "01804" "PHKA2_000043" "g.18911646T>G" "" "" "" "PHKA2(NM_000292.2):c.3665A>C (p.(Tyr1222Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18893528T>G" "" "likely benign" "" "0000333333" "0" "50" "X" "18913303" "18913303" "subst" "6.71186E-5" "01804" "PHKA2_000016" "g.18913303C>T" "" "" "" "PHKA2(NM_000292.2):c.3289G>A (p.(Gly1097Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18895185C>T" "" "VUS" "" "0000333335" "0" "50" "X" "18929037" "18929037" "subst" "6.71133E-5" "01804" "PHKA2_000019" "g.18929037G>A" "" "" "" "PHKA2(NM_000292.2):c.2179C>T (p.(Arg727Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18910919G>A" "" "VUS" "" "0000333336" "0" "30" "X" "18936859" "18936859" "subst" "0.00768452" "01804" "PHKA2_000003" "g.18936859T>C" "" "" "" "PHKA2(NM_000292.2):c.2077A>G (p.(Ile693Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18918741T>C" "" "likely benign" "" "0000333340" "0" "50" "X" "18938161" "18938161" "subst" "0.00570136" "01804" "PHKA2_000002" "g.18938161G>T" "" "" "" "PHKA2(NM_000292.2):c.1952C>A (p.(Thr651Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18920043G>T" "" "VUS" "" "0000333341" "0" "50" "X" "18938186" "18938186" "subst" "7.30271E-5" "01804" "PHKA2_000024" "g.18938186C>G" "" "" "" "PHKA2(NM_000292.2):c.1927G>C (p.D643H, p.(Asp643His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18920068C>G" "" "VUS" "" "0000333342" "0" "50" "X" "18942578" "18942578" "subst" "0.00152777" "01804" "PHKA2_000026" "g.18942578G>C" "" "" "" "PHKA2(NM_000292.2):c.1635C>G (p.I545M, p.(Ile545Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18924460G>C" "" "VUS" "" "0000333343" "0" "30" "X" "18959796" "18959796" "subst" "0.00999978" "01804" "PHKA2_000032" "g.18959796G>A" "" "" "" "PHKA2(NM_000292.2):c.718-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18941678G>A" "" "likely benign" "" "0000333345" "0" "50" "X" "18972383" "18972383" "subst" "1.11995E-5" "01804" "PHKA2_000035" "g.18972383C>T" "" "" "" "PHKA2(NM_000292.2):c.226G>A (p.(Glu76Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18954265C>T" "" "VUS" "" "0000333346" "0" "50" "X" "19014210" "19014210" "subst" "0.00121226" "01804" "GPR64_000015" "g.19014210C>T" "" "" "" "GPR64(NM_001079858.2):c.2675G>A (p.(Arg892Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18996092C>T" "" "VUS" "" "0000333348" "0" "30" "X" "19037713" "19037713" "subst" "0.00809674" "01804" "GPR64_000016" "g.19037713A>G" "" "" "" "GPR64(NM_001079858.2):c.710+4T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19019595A>G" "" "likely benign" "" "0000333350" "0" "50" "X" "19041549" "19041549" "subst" "0.000552514" "01804" "GPR64_000018" "g.19041549G>T" "" "" "" "GPR64(NM_001079858.2):c.533C>A (p.(Thr178Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19023431G>T" "" "VUS" "" "0000333351" "0" "50" "X" "19045364" "19045364" "subst" "0.000129326" "01804" "GPR64_000019" "g.19045364G>A" "" "" "" "GPR64(NM_001079858.2):c.443C>T (p.T148I, p.(Thr148Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19027246G>A" "" "VUS" "" "0000348157" "0" "90" "X" "18911697" "18911697" "subst" "0" "02327" "PHKA2_000044" "g.18911697G>A" "" "" "" "PHKA2(NM_000292.3):c.3614C>T (p.P1205L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18893579G>A" "" "pathogenic" "" "0000350128" "0" "50" "X" "18942621" "18942621" "subst" "5.60099E-6" "02327" "PHKA2_000037" "g.18942621T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18924503T>C" "" "VUS" "" "0000456067" "1" "55" "X" "18972497" "18972497" "subst" "0.0199736" "00000" "PHKA2_000001" "g.18972497C>G" "2/208 patients" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 2 times / no paternal X-chromosome" "Unknown" "" "" "0" "" "" "g.18954379C>G" "" "VUS" "" "0000456068" "1" "35" "X" "18959769" "18959769" "subst" "0.00120933" "00000" "PHKA2_000009" "g.18959769T>G" "1/208 patients" "{PMID:Tarpey 2009:19377476}" "" "R248R" "found once, nonrecurrent change / no paternal X-chromosome" "Unknown" "" "" "0" "" "" "g.18941651T>G" "" "likely benign" "" "0000456069" "20" "75" "X" "18949830" "18949830" "subst" "0" "02976" "PHKA2_000010" "g.18949830G>C" "" "" "" "" "no paternal X-chromosome" "Unknown" "" "" "0" "" "" "g.18931712G>C" "" "likely pathogenic" "" "0000456070" "20" "75" "X" "18943794" "18943794" "subst" "6.15481E-5" "02976" "PHKA2_000011" "g.18943794T>C" "" "" "" "" "no paternal X-chromosome" "Unknown" "" "" "0" "" "" "g.18925676T>C" "" "likely pathogenic" "" "0000456071" "1" "55" "X" "18938161" "18938161" "subst" "0.00570136" "00000" "PHKA2_000002" "g.18938161G>T" "1/208 patients" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change / no paternal X-chromosome" "Unknown" "" "" "0" "" "" "g.18920043G>T" "" "VUS" "" "0000456072" "1" "55" "X" "18936859" "18936859" "subst" "0.00768452" "00000" "PHKA2_000003" "g.18936859T>C" "1/208 patients" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change / no paternal X-chromosome" "Unknown" "" "" "0" "" "" "g.18918741T>C" "" "VUS" "" "0000456073" "1" "35" "X" "18929059" "18929059" "subst" "5.59312E-6" "00000" "PHKA2_000004" "g.18929059C>T" "1/208 patients" "{PMID:Tarpey 2009:19377476}" "" "P719P" "found once, nonrecurrent change / no paternal X-chromosome" "Unknown" "" "" "0" "" "" "g.18910941C>T" "" "likely benign" "" "0000456074" "1" "35" "X" "18926099" "18926099" "subst" "0.00788551" "00000" "PHKA2_000005" "g.18926099C>T" "2/208 patients" "{PMID:Tarpey 2009:19377476}" "" "G812G" "recurrent, found 2 times / no paternal X-chromosome" "Unknown" "" "" "0" "" "" "g.18907981C>T" "" "likely benign" "" "0000456075" "1" "35" "X" "18925201" "18925201" "subst" "0.00946131" "00000" "PHKA2_000006" "g.18925201C>T" "1/208 patients" "{PMID:Tarpey 2009:19377476}" "" "L844L" "found once, nonrecurrent change / no paternal X-chromosome" "Unknown" "" "" "0" "" "" "g.18907083C>T" "" "likely benign" "" "0000456076" "1" "35" "X" "18915431" "18915431" "subst" "1.13545E-5" "00000" "PHKA2_000007" "g.18915431C>T" "1/208 patients" "{PMID:Tarpey 2009:19377476}" "" "S1044S" "found once, nonrecurrent change / no paternal X-chromosome" "Unknown" "" "" "0" "" "" "g.18897313C>T" "" "likely benign" "" "0000456077" "1" "55" "X" "18912471" "18912471" "subst" "8.44257E-5" "00000" "PHKA2_000008" "g.18912471G>A" "1/208 patients" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change / no paternal X-chromosome" "Unknown" "" "" "0" "" "" "g.18894353G>A" "" "VUS" "" "0000456078" "20" "75" "X" "18912450" "18912450" "subst" "0" "02976" "PHKA2_000012" "g.18912450G>A" "" "" "" "" "patient heterozygous for PHKG2 cryptic splice variant / no paternal X-chromosome" "Unknown" "" "" "0" "" "" "g.18894332G>A" "" "likely pathogenic" "" "0000456079" "21" "95" "X" "18911769" "18911769" "subst" "0" "02976" "PHKA2_000013" "g.18911769G>C" "" "" "" "" "no paternal X-chromosome" "Unknown" "" "" "0" "" "" "g.18893651G>C" "" "pathogenic" "" "0000456080" "20" "75" "X" "18911679" "18911679" "subst" "0" "02976" "PHKA2_000014" "g.18911679G>C" "" "" "" "" "no paternal X-chromosome" "Unknown" "" "" "0" "" "" "g.18893561G>C" "" "likely pathogenic" "" "0000499699" "20" "50" "X" "18917338" "18917338" "subst" "0.000146003" "01836" "PHKA2_000047" "g.18917338A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.18899220A>T" "" "VUS" "" "0000575167" "0" "70" "X" "18913260" "18913265" "dup" "0" "01943" "PHKA2_000049" "g.18913260_18913265dup" "" "" "" "PHKA2(NM_000292.2):c.3327_3332dupGACCCG (p.T1110_R1111dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18895142_18895147dup" "" "likely pathogenic" "" "0000575168" "0" "30" "X" "18915274" "18915274" "subst" "1.68853E-5" "01804" "PHKA2_000050" "g.18915274G>T" "" "" "" "PHKA2(NM_000292.2):c.3282+7C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18897156G>T" "" "likely benign" "" "0000575170" "0" "30" "X" "18924865" "18924865" "subst" "1.67774E-5" "01943" "PHKA2_000052" "g.18924865C>T" "" "" "" "PHKA2(NM_000292.2):c.2665G>A (p.V889I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18906747C>T" "" "likely benign" "" "0000575171" "0" "30" "X" "18925155" "18925155" "subst" "0.000216503" "01804" "PHKA2_000053" "g.18925155G>A" "" "" "" "PHKA2(NM_000292.2):c.2578C>T (p.R860W, p.(Arg860Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18907037G>A" "" "likely benign" "" "0000575173" "0" "30" "X" "18926137" "18926137" "subst" "8.39006E-5" "01943" "PHKA2_000055" "g.18926137C>T" "" "" "" "PHKA2(NM_000292.2):c.2398G>A (p.G800R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18908019C>T" "" "likely benign" "" "0000575174" "0" "30" "X" "18942243" "18942243" "subst" "0.000134366" "01943" "PHKA2_000056" "g.18942243C>T" "" "" "" "PHKA2(NM_000292.2):c.1724G>A (p.G575D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18924125C>T" "" "likely benign" "" "0000575176" "0" "50" "X" "19009068" "19009068" "subst" "1.1266E-5" "01943" "GPR64_000024" "g.19009068T>C" "" "" "" "ADGRG2(NM_001079858.2):c.2968A>G (p.K990E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18990950T>C" "" "VUS" "" "0000575177" "0" "50" "X" "19025475" "19025475" "subst" "5.04906E-5" "01943" "GPR64_000025" "g.19025475C>A" "" "" "" "ADGRG2(NM_001079858.2):c.1567G>T (p.D523Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19007357C>A" "" "VUS" "" "0000575179" "0" "30" "X" "19041578" "19041578" "subst" "0" "01804" "GPR64_000027" "g.19041578C>T" "" "" "" "GPR64(NM_001079858.2):c.511-7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19023460C>T" "" "likely benign" "" "0000619378" "0" "30" "X" "18942578" "18942578" "subst" "0.00152777" "01943" "PHKA2_000026" "g.18942578G>C" "" "" "" "PHKA2(NM_000292.2):c.1635C>G (p.I545M, p.(Ile545Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18924460G>C" "" "likely benign" "" "0000619379" "0" "50" "X" "18942578" "18942578" "subst" "0.00152777" "02327" "PHKA2_000026" "g.18942578G>C" "" "" "" "PHKA2(NM_000292.2):c.1635C>G (p.I545M, p.(Ile545Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18924460G>C" "" "VUS" "" "0000619380" "0" "50" "X" "19022928" "19022928" "subst" "0" "01943" "GPR64_000028" "g.19022928C>T" "" "" "" "ADGRG2(NM_001079858.2):c.1909G>A (p.G637R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19004810C>T" "" "VUS" "" "0000619381" "0" "50" "X" "19031986" "19031986" "subst" "0" "01943" "GPR64_000029" "g.19031986G>C" "" "" "" "ADGRG2(NM_001079858.2):c.917C>G (p.P306R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19013868G>C" "" "VUS" "" "0000624548" "0" "50" "X" "18919719" "18919719" "subst" "0" "01943" "PHKA2_000058" "g.18919719G>A" "" "" "" "PHKA2(NM_000292.2):c.2911C>T (p.R971C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18901601G>A" "" "VUS" "" "0000624549" "0" "30" "X" "18938186" "18938186" "subst" "7.30271E-5" "01943" "PHKA2_000024" "g.18938186C>G" "" "" "" "PHKA2(NM_000292.2):c.1927G>C (p.D643H, p.(Asp643His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18920068C>G" "" "likely benign" "" "0000652867" "1" "70" "X" "18958147" "18958147" "subst" "0" "03575" "PHKA2_000059" "g.18958147C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs797044877}" "Germline" "" "rs797044877" "0" "" "" "g.18940029C>T" "" "likely pathogenic" "" "0000659235" "0" "30" "X" "18915374" "18915374" "subst" "0.000123728" "01943" "PHKA2_000060" "g.18915374C>A" "" "" "" "PHKA2(NM_000292.2):c.3189G>T (p.R1063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18897256C>A" "" "likely benign" "" "0000659236" "0" "30" "X" "18961849" "18961849" "subst" "5.59481E-6" "01943" "PHKA2_000061" "g.18961849T>C" "" "" "" "PHKA2(NM_000292.2):c.696A>G (p.P232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18943731T>C" "" "likely benign" "" "0000659237" "0" "30" "X" "19031994" "19031994" "subst" "0" "01943" "GPR64_000030" "g.19031994T>C" "" "" "" "ADGRG2(NM_001079858.2):c.909A>G (p.S303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19013876T>C" "" "likely benign" "" "0000659238" "0" "30" "X" "19045356" "19045356" "subst" "0" "01943" "GPR64_000031" "g.19045356G>A" "" "" "" "ADGRG2(NM_001079858.2):c.451C>T (p.L151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19027238G>A" "" "likely benign" "" "0000682325" "0" "30" "X" "18911621" "18911621" "subst" "1.11864E-5" "01943" "PHKA2_000062" "g.18911621C>G" "" "" "" "PHKA2(NM_000292.2):c.3690G>C (p.S1230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682326" "0" "30" "X" "18913265" "18913265" "subst" "0.000782972" "01943" "PHKA2_000063" "g.18913265C>T" "" "" "" "PHKA2(NM_000292.2):c.3327G>A (p.T1109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682327" "0" "30" "X" "18969322" "18969322" "subst" "0.00010634" "01943" "PHKA2_000064" "g.18969322G>A" "" "" "" "PHKA2(NM_000292.2):c.354C>T (p.T118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693510" "0" "50" "X" "18936835" "18936835" "subst" "0" "01943" "PHKA2_000065" "g.18936835A>T" "" "" "" "PHKA2(NM_000292.2):c.2101T>A (p.S701T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693511" "0" "30" "X" "19014230" "19014230" "subst" "0" "01943" "GPR64_000032" "g.19014230A>G" "" "" "" "ADGRG2(NM_001079858.2):c.2655T>C (p.N885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693512" "0" "30" "X" "19021186" "19021186" "subst" "5.62076E-5" "01943" "GPR64_000033" "g.19021186C>T" "" "" "" "ADGRG2(NM_001079858.2):c.2008G>A (p.A670T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000695602" "3" "70" "X" "18942634" "18942634" "subst" "0" "02551" "PHKA2_000066" "g.18942634G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000714785" "1" "70" "X" "18972485" "18972485" "subst" "0" "00000" "PHKA2_000088" "g.18972485C>G" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18954367C>G" "" "likely pathogenic (recessive)" "" "0000714786" "1" "90" "X" "18966857" "18966857" "subst" "0" "00000" "PHKA2_000083" "g.18966857C>T" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18948739C>T" "" "pathogenic (recessive)" "" "0000714787" "1" "70" "X" "18926077" "18926077" "subst" "0" "00000" "PHKA2_000075" "g.18926077A>C" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18907959A>C" "" "likely pathogenic (recessive)" "" "0000714788" "1" "70" "X" "18970613" "18970613" "subst" "0" "00000" "PHKA2_000087" "g.18970613T>C" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18952495T>C" "" "likely pathogenic (recessive)" "" "0000714789" "1" "70" "X" "18970613" "18970613" "subst" "0" "00000" "PHKA2_000087" "g.18970613T>C" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18952495T>C" "" "likely pathogenic (recessive)" "" "0000714790" "1" "70" "X" "18970613" "18970613" "subst" "0" "00000" "PHKA2_000087" "g.18970613T>C" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18952495T>C" "" "likely pathogenic (recessive)" "" "0000714792" "1" "90" "X" "18899044" "18920212" "del" "0" "00000" "PHKA2_000068" "g.18899044_18920212del" "" "{PMID:Davit-Spraul 2011:21646031}" "" "hg19:g.18920212_18899044del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000714793" "1" "90" "X" "18949818" "18949821" "dup" "0" "00000" "PHKA2_000077" "g.18949818_18949821dup" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18931700_18931703dup" "" "pathogenic (recessive)" "" "0000714794" "1" "90" "X" "18949794" "18949794" "subst" "0" "00000" "PHKA2_000076" "g.18949794G>A" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18931676G>A" "" "pathogenic (recessive)" "" "0000714795" "1" "90" "X" "18925174" "18925174" "dup" "0" "00000" "PHKA2_000074" "g.18925174dup" "" "{PMID:Davit-Spraul 2011:21646031}" "" "2561insG" "" "Germline" "" "" "0" "" "" "g.18907056dup" "" "pathogenic (recessive)" "" "0000714796" "1" "90" "X" "18968779" "18971623" "del" "0" "00000" "PHKA2_000067" "g.18968779_18971623del" "" "{PMID:Davit-Spraul 2011:21646031}" "" "hg18:g18878700_18881544del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000714797" "1" "70" "X" "18924673" "18924673" "subst" "0" "00000" "PHKA2_000072" "g.18924673G>A" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18906555G>A" "" "likely pathogenic (recessive)" "" "0000714798" "1" "70" "X" "18958135" "18958135" "subst" "0" "00000" "PHKA2_000080" "g.18958135T>C" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18940017T>C" "" "likely pathogenic (recessive)" "" "0000714799" "1" "70" "X" "18969284" "18969284" "subst" "0" "00000" "PHKA2_000085" "g.18969284C>A" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18951166C>A" "" "likely pathogenic (recessive)" "" "0000714801" "1" "70" "X" "18958132" "18958132" "subst" "0" "00000" "PHKA2_000078" "g.18958132C>A" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18940014C>A" "" "likely pathogenic (recessive)" "" "0000714802" "1" "70" "X" "18958132" "18958132" "subst" "0" "00000" "PHKA2_000079" "g.18958132C>T" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18940014C>T" "" "likely pathogenic (recessive)" "" "0000714803" "1" "10" "X" "18972497" "18972497" "subst" "0.0199736" "00000" "PHKA2_000001" "g.18972497C>G" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18954379C>G" "" "benign" "" "0000714804" "1" "70" "X" "18963255" "18963255" "subst" "0" "00000" "PHKA2_000081" "g.18963255C>T" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18945137C>T" "" "likely pathogenic (recessive)" "" "0000714805" "1" "70" "X" "18963258" "18963258" "subst" "0" "00000" "PHKA2_000082" "g.18963258G>A" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18945140G>A" "" "likely pathogenic (recessive)" "" "0000714806" "1" "70" "X" "18972476" "18972476" "subst" "0" "00000" "PHKA2_000036" "g.18972476G>A" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18954358G>A" "" "likely pathogenic (recessive)" "" "0000714807" "1" "70" "X" "18956809" "18956809" "subst" "0" "00000" "PHKA2_000030" "g.18956809C>T" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18938691C>T" "" "likely pathogenic (recessive)" "" "0000714808" "1" "70" "X" "18969275" "18969275" "subst" "0" "00000" "PHKA2_000084" "g.18969275T>C" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18951157T>C" "" "likely pathogenic (recessive)" "" "0000714825" "1" "90" "X" "18923972" "18923972" "del" "0" "00000" "PHKA2_000071" "g.18923972del" "" "{PMID:Wang 2013:22899091}" "" "2812delG" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.18905854del" "" "pathogenic (recessive)" "" "0000714826" "1" "90" "X" "18911697" "18911697" "subst" "0" "00000" "PHKA2_000044" "g.18911697G>A" "" "{PMID:Wang 2013:22899091}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.18893579G>A" "" "pathogenic (recessive)" "" "0000714834" "1" "90" "X" "18924925" "18924925" "del" "0" "00000" "PHKA2_000073" "g.18924925del" "" "{PMID:Wang 2013:22899091}" "" "2609delC" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.18906807del" "" "pathogenic (recessive)" "" "0000714835" "1" "90" "X" "18915280" "18919722" "del" "0" "00000" "PHKA2_000069" "g.(18913310_18915280)_(18919722_18923875)del" "" "{PMID:Wang 2013:22899091}" "" "del ex27-30" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.(18895192_18897162)_(18901604_18905757)del" "" "pathogenic (recessive)" "" "0000714836" "1" "90" "X" "18972476" "18972476" "subst" "0" "00000" "PHKA2_000036" "g.18972476G>A" "" "{PMID:Wang 2013:22899091}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.18954358G>A" "" "pathogenic (recessive)" "" "0000714848" "1" "70" "X" "18911697" "18911697" "subst" "0" "00000" "PHKA2_000044" "g.18911697G>A" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18893579G>A" "" "likely pathogenic (recessive)" "" "0000714850" "1" "10" "X" "18936859" "18936859" "subst" "0.00768452" "00000" "PHKA2_000003" "g.18936859T>C" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18918741T>C" "" "benign" "" "0000714851" "1" "10" "X" "18936859" "18936859" "subst" "0.00768452" "00000" "PHKA2_000003" "g.18936859T>C" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18918741T>C" "" "benign" "" "0000714852" "1" "10" "X" "18936859" "18936859" "subst" "0.00768452" "00000" "PHKA2_000003" "g.18936859T>C" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18918741T>C" "" "benign" "" "0000714853" "1" "70" "X" "18912510" "18912510" "subst" "0" "00000" "PHKA2_000070" "g.18912510C>T" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18894392C>T" "" "likely pathogenic (recessive)" "" "0000714855" "1" "70" "X" "18969284" "18969284" "subst" "0" "00000" "PHKA2_000086" "g.18969284C>T" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18951166C>T" "" "likely pathogenic (recessive)" "" "0000714862" "1" "50" "X" "18959796" "18959796" "subst" "0.00999978" "00000" "PHKA2_000032" "g.18959796G>A" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.18941678G>A" "" "VUS" "" "0000728742" "0" "30" "X" "18924617" "18924617" "subst" "0.000202203" "01943" "PHKA2_000089" "g.18924617G>C" "" "" "" "PHKA2(NM_000292.2):c.2802C>G (p.C934W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728743" "0" "30" "X" "18925165" "18925165" "subst" "0.000471357" "01943" "PHKA2_000090" "g.18925165C>A" "" "" "" "PHKA2(NM_000292.2):c.2568G>T (p.P856=), PHKA2(NM_000292.3):c.2568G>T (p.(Pro856=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728744" "0" "30" "X" "18926090" "18926090" "subst" "6.71103E-5" "01943" "PHKA2_000091" "g.18926090G>A" "" "" "" "PHKA2(NM_000292.2):c.2445C>T (p.G815=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728745" "0" "30" "X" "18929044" "18929044" "subst" "0.000274048" "01943" "PHKA2_000092" "g.18929044A>G" "" "" "" "PHKA2(NM_000292.2):c.2172T>C (p.S724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728746" "0" "30" "X" "18936877" "18936877" "subst" "0" "01943" "PHKA2_000093" "g.18936877G>A" "" "" "" "PHKA2(NM_000292.2):c.2059C>T (p.R687C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728747" "0" "30" "X" "18943783" "18943783" "subst" "0.000184655" "02325" "PHKA2_000094" "g.18943783C>T" "" "" "" "PHKA2(NM_000292.3):c.1569+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810215" "0" "50" "X" "18912416" "18912416" "subst" "7.86353E-5" "02325" "PHKA2_000046" "g.18912416G>A" "" "" "" "PHKA2(NM_000292.2):c.3443C>T (p.T1148M), PHKA2(NM_000292.3):c.3443C>T (p.T1148M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810216" "0" "50" "X" "18919674" "18919674" "subst" "0.000352461" "01943" "PHKA2_000051" "g.18919674C>T" "" "" "" "PHKA2(NM_000292.2):c.2956G>A (p.E986K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810217" "0" "50" "X" "18925155" "18925155" "subst" "0.000216503" "01943" "PHKA2_000053" "g.18925155G>A" "" "" "" "PHKA2(NM_000292.2):c.2578C>T (p.R860W, p.(Arg860Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810218" "0" "50" "X" "18956755" "18956755" "subst" "0" "01943" "PHKA2_000095" "g.18956755T>C" "" "" "" "PHKA2(NM_000292.2):c.1031A>G (p.D344G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810219" "0" "70" "X" "18959790" "18959790" "subst" "5.6034E-6" "02327" "PHKA2_000096" "g.18959790T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000810220" "0" "30" "X" "19021178" "19021178" "subst" "0.000224713" "01943" "GPR64_000034" "g.19021178C>G" "" "" "" "ADGRG2(NM_001079858.2):c.2016G>C (p.L672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856507" "0" "30" "X" "18936962" "18936962" "subst" "3.35888E-5" "01943" "PHKA2_000098" "g.18936962G>A" "" "" "" "PHKA2(NM_000292.2):c.1974C>T (p.D658=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856508" "0" "50" "X" "18943865" "18943865" "subst" "0" "01943" "PHKA2_000099" "g.18943865C>T" "" "" "" "PHKA2(NM_000292.2):c.1490G>A (p.R497Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856509" "0" "70" "X" "18959714" "18959714" "subst" "0" "02325" "PHKA2_000100" "g.18959714G>A" "" "" "" "PHKA2(NM_000292.3):c.797C>T (p.P266L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000856510" "0" "50" "X" "18972407" "18972407" "subst" "2.23886E-5" "01943" "PHKA2_000101" "g.18972407C>T" "" "" "" "PHKA2(NM_000292.2):c.202G>A (p.D68N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867258" "0" "30" "X" "18924641" "18924641" "subst" "0.000117601" "01943" "PHKA2_000097" "g.18924641C>T" "" "" "" "PHKA2(NM_000292.2):c.2778G>A (p.T926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867259" "0" "50" "X" "19018032" "19018032" "subst" "0" "01943" "GPR64_000035" "g.19018032A>T" "" "" "" "ADGRG2(NM_001079858.2):c.2277T>A (p.D759E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867260" "0" "30" "X" "19032033" "19032033" "subst" "0.00550075" "01804" "GPR64_000036" "g.19032033G>T" "" "" "" "ADGRG2(NM_001079858.3):c.870C>A (p.(His290Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896050" "0" "30" "X" "18911606" "18911606" "subst" "0.00101795" "02326" "PHKA2_000102" "g.18911606T>C" "" "" "" "PHKA2(NM_000292.3):c.3705A>G (p.Q1235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896051" "0" "30" "X" "18915320" "18915320" "subst" "0.000909448" "02326" "PHKA2_000103" "g.18915320G>A" "" "" "" "PHKA2(NM_000292.3):c.3243C>T (p.P1081=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896052" "0" "90" "X" "18943866" "18943866" "subst" "0" "02327" "PHKA2_000104" "g.18943866G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896053" "0" "90" "X" "18972476" "18972476" "subst" "0" "02325" "PHKA2_000036" "g.18972476G>A" "" "" "" "PHKA2(NM_000292.3):c.133C>T (p.R45W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915668" "0" "90" "X" "18911697" "18911697" "subst" "0" "02325" "PHKA2_000044" "g.18911697G>A" "" "" "" "PHKA2(NM_000292.3):c.3614C>T (p.P1205L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000927308" "0" "30" "X" "18911778" "18911778" "subst" "0" "02325" "PHKA2_000105" "g.18911778A>C" "" "" "" "PHKA2(NM_000292.3):c.3538-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931369" "0" "50" "X" "19025475" "19025475" "subst" "5.04906E-5" "02327" "GPR64_000025" "g.19025475C>A" "" "" "" "ADGRG2(NM_001079858.2):c.1567G>T (p.D523Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936415" "0" "50" "X" "18943824" "18943824" "subst" "0" "00006" "PHKA2_000106" "g.18943824A>G" "" "{PMID:Hamdan 2017:29100083}" "" "NM_000292:c.T1531C (Y511H)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000944613" "0" "70" "X" "18924699" "18924710" "delins" "0" "03779" "PHKA2_000107" "g.18924699_18924710delinsAGATG" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000951730" "0" "50" "X" "19021212" "19021212" "subst" "0" "02327" "GPR64_000037" "g.19021212G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984592" "0" "30" "X" "18925165" "18925165" "subst" "0.000471357" "01804" "PHKA2_000090" "g.18925165C>A" "" "" "" "PHKA2(NM_000292.2):c.2568G>T (p.P856=), PHKA2(NM_000292.3):c.2568G>T (p.(Pro856=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984593" "0" "50" "X" "19049153" "19049153" "subst" "1.13181E-5" "01804" "GPR64_000038" "g.19049153C>T" "" "" "" "ADGRG2(NM_001079858.3):c.307G>A (p.(Val103Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006639" "0" "50" "X" "19031977" "19031977" "subst" "0" "01804" "GPR64_000039" "g.19031977G>C" "" "" "" "GPR64(NM_005756.3):c.917C>G (p.(Pro306Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006640" "0" "30" "X" "19039252" "19039252" "subst" "0" "01804" "GPR64_000040" "g.19039252C>T" "" "" "" "GPR64(NM_001079858.2):c.613G>A (p.(Ala205Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001008327" "0" "90" "X" "18912515" "18912515" "subst" "2.26918E-5" "00006" "PHKA2_000108" "g.18912515G>A" "" "{PMID:Xie 2024:39198981}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.18894397G>A" "" "pathogenic (recessive)" "" "0001029728" "21" "70" "X" "18925130" "18925130" "subst" "0" "04409" "PHKA2_000109" "g.18925130A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.18907012A>G" "" "VUS" "ACMG" "0001044245" "0" "30" "X" "18962314" "18962314" "subst" "0" "01804" "PHKA2_000110" "g.18962314T>C" "" "" "" "PHKA2(NM_000292.3):c.619-388A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044246" "0" "30" "X" "18966927" "18966927" "subst" "0.00050902" "01804" "PHKA2_000111" "g.18966927T>C" "" "" "" "PHKA2(NM_000292.3):c.472A>G (p.(Thr158Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044247" "0" "30" "X" "19028721" "19028721" "subst" "0.00158559" "01804" "GPR64_000041" "g.19028721G>A" "" "" "" "ADGRG2(NM_001079858.3):c.1265+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057280" "0" "50" "X" "18969294" "18969294" "subst" "1.12007E-5" "01804" "PHKA2_000112" "g.18969294C>T" "" "" "" "PHKA2(NM_000292.3):c.382G>A (p.(Asp128Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057281" "0" "50" "X" "19021076" "19021076" "subst" "0" "01804" "GPR64_000042" "g.19021076C>A" "" "" "" "ADGRG2(NM_001079858.3):c.2118G>T (p.(Leu706Phe))" "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 PHKA2 ## Count = 154 "{{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}}" "0000002829" "00001337" "50" "2138" "-50" "2138" "-50" "c.2138-50del" "r.(=)" "p.(=)" "" "0000006456" "00001337" "50" "3027" "45" "3027" "45" "c.3027+45T>G" "r.(=)" "p.(=)" "" "0000006457" "00001337" "50" "1042" "-116" "1042" "-116" "c.1042-116C>T" "r.(=)" "p.(=)" "" "0000008509" "00001337" "50" "1042" "-116" "1042" "-116" "c.1042-116C>T" "r.(=)" "p.(=)" "" "0000010829" "00001337" "50" "4450" "0" "4450" "0" "c.*742del" "r.(=)" "p.(=)" "" "0000010830" "00001337" "50" "2138" "-50" "2138" "-50" "c.2138-50del" "r.(=)" "p.(=)" "" "0000010831" "00001337" "50" "285" "165" "285" "165" "c.285+165del" "r.(=)" "p.(=)" "" "0000014413" "00001337" "50" "3027" "45" "3027" "45" "c.3027+45T>G" "r.(=)" "p.(=)" "" "0000252384" "00001337" "70" "887" "0" "887" "0" "c.887T>C" "r.(?)" "p.(Phe296Ser)" "" "0000252571" "00001337" "90" "601" "0" "601" "0" "c.601T>C" "r.(?)" "p.(Ser201Pro)" "" "0000288691" "00001337" "30" "-43314" "0" "-43314" "0" "c.-43314C>T" "r.(?)" "p.(=)" "" "0000296943" "00001337" "30" "1398" "0" "1398" "0" "c.1398G>A" "r.(?)" "p.(Ala466=)" "" "0000300747" "00001337" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "" "0000300748" "00001337" "70" "3613" "0" "3613" "0" "c.3613C>A" "r.(?)" "p.(Pro1205Thr)" "" "0000300749" "00001337" "90" "3614" "0" "3614" "0" "c.3614C>T" "r.(?)" "p.(Pro1205Leu)" "" "0000300750" "00001337" "70" "977" "0" "977" "0" "c.977G>A" "r.(?)" "p.(Cys326Tyr)" "" "0000305545" "00001337" "30" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Ser342Asn)" "" "0000305546" "00001337" "30" "1398" "0" "1398" "0" "c.1398G>A" "r.(?)" "p.(Ala466=)" "" "0000305547" "00001337" "30" "1579" "0" "1579" "0" "c.1579C>G" "r.(?)" "p.(Gln527Glu)" "" "0000305548" "00001337" "50" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Glu546Lys)" "" "0000305549" "00001337" "50" "2180" "0" "2180" "0" "c.2180G>A" "r.(?)" "p.(Arg727His)" "" "0000305550" "00001337" "30" "3330" "0" "3330" "0" "c.3330C>T" "r.(?)" "p.(Thr1110=)" "" "0000305551" "00001337" "50" "3443" "0" "3443" "0" "c.3443C>T" "r.(?)" "p.(Thr1148Met)" "" "0000333332" "00001337" "30" "3665" "0" "3665" "0" "c.3665A>C" "r.(?)" "p.(Tyr1222Ser)" "" "0000333333" "00001337" "50" "3289" "0" "3289" "0" "c.3289G>A" "r.(?)" "p.(Gly1097Ser)" "" "0000333335" "00001337" "50" "2179" "0" "2179" "0" "c.2179C>T" "r.(?)" "p.(Arg727Cys)" "" "0000333336" "00001337" "30" "2077" "0" "2077" "0" "c.2077A>G" "r.(?)" "p.(Ile693Val)" "" "0000333340" "00001337" "50" "1952" "0" "1952" "0" "c.1952C>A" "r.(?)" "p.(Thr651Asn)" "" "0000333341" "00001337" "50" "1927" "0" "1927" "0" "c.1927G>C" "r.(?)" "p.(Asp643His)" "" "0000333342" "00001337" "50" "1635" "0" "1635" "0" "c.1635C>G" "r.(?)" "p.(Ile545Met)" "" "0000333343" "00001337" "30" "718" "-3" "718" "-3" "c.718-3C>T" "r.spl?" "p.?" "" "0000333345" "00001337" "50" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "" "0000333346" "00001337" "50" "-12160" "0" "-12160" "0" "c.-12160G>A" "r.(?)" "p.(=)" "" "0000333348" "00001337" "30" "-35663" "0" "-35663" "0" "c.-35663T>C" "r.(?)" "p.(=)" "" "0000333350" "00001337" "50" "-39499" "0" "-39499" "0" "c.-39499C>A" "r.(?)" "p.(=)" "" "0000333351" "00001337" "50" "-43314" "0" "-43314" "0" "c.-43314C>T" "r.(?)" "p.(=)" "" "0000348157" "00001337" "90" "3614" "0" "3614" "0" "c.3614C>T" "r.(?)" "p.(Pro1205Leu)" "" "0000350128" "00001337" "50" "1592" "0" "1592" "0" "c.1592A>G" "r.(?)" "p.(Tyr531Cys)" "" "0000456067" "00001337" "55" "112" "0" "112" "0" "c.112G>C" "r.(?)" "p.(Glu38Gln)" "2" "0000456068" "00001337" "35" "742" "0" "742" "0" "c.742A>C" "r.(?)" "p.(=)" "8" "0000456069" "00001337" "75" "1174" "0" "1174" "0" "c.1174C>G" "r.(?)" "p.(Arg392Gly)" "12" "0000456070" "00001337" "75" "1561" "0" "1561" "0" "c.1561A>G" "r.(?)" "p.(Thr521Ala)" "15" "0000456071" "00001337" "55" "1952" "0" "1952" "0" "c.1952C>A" "r.(?)" "p.(Thr651Asn)" "18" "0000456072" "00001337" "55" "2077" "0" "2077" "0" "c.2077A>G" "r.(?)" "p.(Ile693Val)" "19" "0000456073" "00001337" "35" "2157" "0" "2157" "0" "c.2157G>A" "r.(?)" "p.(=)" "20" "0000456074" "00001337" "35" "2436" "0" "2436" "0" "c.2436G>A" "r.(?)" "p.(=)" "22" "0000456075" "00001337" "35" "2532" "0" "2532" "0" "c.2532G>A" "r.(?)" "p.(=)" "23" "0000456076" "00001337" "35" "3132" "0" "3132" "0" "c.3132G>A" "r.(?)" "p.(=)" "30" "0000456077" "00001337" "55" "3388" "0" "3388" "0" "c.3388C>T" "r.(?)" "p.(Arg1130Cys)" "32" "0000456078" "00001337" "75" "3409" "0" "3409" "0" "c.3409C>T" "r.(?)" "p.(Arg1137Trp)" "32" "0000456079" "00001337" "95" "3542" "0" "3542" "0" "c.3542C>G" "r.(?)" "p.(Ser1181*)" "33" "0000456080" "00001337" "75" "3632" "0" "3632" "0" "c.3632C>G" "r.(?)" "p.(Thr1211Arg)" "33" "0000499699" "00001337" "50" "3064" "0" "3064" "0" "c.3064T>A" "r.(?)" "p.(Ser1022Thr)" "" "0000575167" "00001337" "70" "3327" "0" "3332" "0" "c.3327_3332dup" "r.(?)" "p.(Thr1110_Arg1111dup)" "" "0000575168" "00001337" "30" "3282" "7" "3282" "7" "c.3282+7C>A" "r.(=)" "p.(=)" "" "0000575170" "00001337" "30" "2665" "0" "2665" "0" "c.2665G>A" "r.(?)" "p.(Val889Ile)" "" "0000575171" "00001337" "30" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Arg860Trp)" "" "0000575173" "00001337" "30" "2398" "0" "2398" "0" "c.2398G>A" "r.(?)" "p.(Gly800Arg)" "" "0000575174" "00001337" "30" "1724" "0" "1724" "0" "c.1724G>A" "r.(?)" "p.(Gly575Asp)" "" "0000575176" "00001337" "50" "-7018" "0" "-7018" "0" "c.-7018A>G" "r.(?)" "p.(=)" "" "0000575177" "00001337" "50" "-23425" "0" "-23425" "0" "c.-23425G>T" "r.(?)" "p.(=)" "" "0000575179" "00001337" "30" "-39528" "0" "-39528" "0" "c.-39528G>A" "r.(?)" "p.(=)" "" "0000619378" "00001337" "30" "1635" "0" "1635" "0" "c.1635C>G" "r.(?)" "p.(Ile545Met)" "" "0000619379" "00001337" "50" "1635" "0" "1635" "0" "c.1635C>G" "r.(?)" "p.(Ile545Met)" "" "0000619380" "00001337" "50" "-20878" "0" "-20878" "0" "c.-20878G>A" "r.(?)" "p.(=)" "" "0000619381" "00001337" "50" "-29936" "0" "-29936" "0" "c.-29936C>G" "r.(?)" "p.(=)" "" "0000624548" "00001337" "50" "2911" "0" "2911" "0" "c.2911C>T" "r.(?)" "p.(Arg971Cys)" "" "0000624549" "00001337" "30" "1927" "0" "1927" "0" "c.1927G>C" "r.(?)" "p.(Asp643His)" "" "0000652867" "00001337" "70" "884" "0" "884" "0" "c.884G>A" "r.(?)" "p.(Arg295His)" "" "0000659235" "00001337" "30" "3189" "0" "3189" "0" "c.3189G>T" "r.(?)" "p.(Arg1063=)" "" "0000659236" "00001337" "30" "696" "0" "696" "0" "c.696A>G" "r.(?)" "p.(Pro232=)" "" "0000659237" "00001337" "30" "-29944" "0" "-29944" "0" "c.-29944A>G" "r.(?)" "p.(=)" "" "0000659238" "00001337" "30" "-43306" "0" "-43306" "0" "c.-43306C>T" "r.(?)" "p.(=)" "" "0000682325" "00001337" "30" "3690" "0" "3690" "0" "c.3690G>C" "r.(?)" "p.(Ser1230=)" "" "0000682326" "00001337" "30" "3327" "0" "3327" "0" "c.3327G>A" "r.(?)" "p.(Thr1109=)" "" "0000682327" "00001337" "30" "354" "0" "354" "0" "c.354C>T" "r.(?)" "p.(Thr118=)" "" "0000693510" "00001337" "50" "2101" "0" "2101" "0" "c.2101T>A" "r.(?)" "p.(Ser701Thr)" "" "0000693511" "00001337" "30" "-12180" "0" "-12180" "0" "c.-12180T>C" "r.(?)" "p.(=)" "" "0000693512" "00001337" "30" "-19136" "0" "-19136" "0" "c.-19136G>A" "r.(?)" "p.(=)" "" "0000695602" "00001337" "70" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Gln527*)" "" "0000714785" "00001337" "70" "124" "0" "124" "0" "c.124G>C" "r.(?)" "p.(Ala42Pro)" "2" "0000714786" "00001337" "90" "537" "5" "537" "5" "c.537+5G>A" "r.spl?" "p.?" "5i" "0000714787" "00001337" "70" "2458" "0" "2458" "0" "c.2458T>G" "r.(?)" "p.(Trp820Gly)" "22" "0000714788" "00001337" "70" "284" "0" "284" "0" "c.284A>G" "r.(?)" "p.(Gln95Arg)" "3" "0000714789" "00001337" "70" "284" "0" "284" "0" "c.284A>G" "r.(?)" "p.(Gln95Arg)" "3" "0000714790" "00001337" "70" "284" "0" "284" "0" "c.284A>G" "r.(?)" "p.(Gln95Arg)" "3" "0000714792" "00001337" "90" "0" "0" "0" "0" "c.2909-491_*1187{0}" "r.?" "p.?" "26i_33_" "0000714793" "00001337" "90" "1183" "0" "1186" "0" "c.1183_1186dup" "r.(?)" "p.(Gly396Aspfs*28)" "12" "0000714794" "00001337" "90" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Gln404*)" "12" "0000714795" "00001337" "90" "2561" "0" "2561" "0" "c.2561dup" "r.(?)" "p.(Leu855Profs*87)" "23" "0000714796" "00001337" "90" "237" "749" "454" "443" "c.237+749_454+443del" "r.(?)" "p.(Asn80Alafs*21)" "2i_4i" "0000714797" "00001337" "70" "2746" "0" "2746" "0" "c.2746C>T" "r.(?)" "p.(Arg916Trp)" "25" "0000714798" "00001337" "70" "896" "0" "896" "0" "c.896A>G" "r.(?)" "p.(Asp299Gly)" "9" "0000714799" "00001337" "70" "392" "0" "392" "0" "c.392G>T" "r.(?)" "p.(Gly131Val)" "4" "0000714801" "00001337" "70" "899" "0" "899" "0" "c.899G>T" "r.(?)" "p.(Gly300Val)" "9" "0000714802" "00001337" "70" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Gly300Asp)" "9" "0000714803" "00001337" "10" "112" "0" "112" "0" "c.112G>C" "r.(?)" "p.(Glu38Gln)" "2" "0000714804" "00001337" "70" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Gly187Arg)" "6" "0000714805" "00001337" "70" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Cys)" "6" "0000714806" "00001337" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2" "0000714807" "00001337" "70" "977" "0" "977" "0" "c.977G>A" "r.(?)" "p.(Cys326Tyr)" "10" "0000714808" "00001337" "70" "401" "0" "401" "0" "c.401A>G" "r.(?)" "p.(Gln134Arg)" "4" "0000714825" "00001337" "90" "2812" "0" "2812" "0" "c.2812del" "r.(?)" "p.(Glu938Argfs*6)" "" "0000714826" "00001337" "90" "3614" "0" "3614" "0" "c.3614C>T" "r.(?)" "p.(Pro1205Leu)" "" "0000714834" "00001337" "90" "2609" "0" "2609" "0" "c.2609del" "r.(?)" "p.(Pro870Glnfs*44)" "" "0000714835" "00001337" "90" "0" "0" "0" "0" "c.(2908+1_2909-1)_()del" "r.?" "p.?" "26i_30i" "0000714836" "00001337" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "" "0000714848" "00001337" "70" "3614" "0" "3614" "0" "c.3614C>T" "r.(?)" "p.(Pro1205Leu)" "33" "0000714850" "00001337" "10" "2077" "0" "2077" "0" "c.2077A>G" "r.(?)" "p.(Ile693Val)" "19" "0000714851" "00001337" "10" "2077" "0" "2077" "0" "c.2077A>G" "r.(?)" "p.(Ile693Val)" "19" "0000714852" "00001337" "10" "2077" "0" "2077" "0" "c.2077A>G" "r.(?)" "p.(Ile693Val)" "19" "0000714853" "00001337" "70" "3349" "0" "3349" "0" "c.3349G>A" "r.(?)" "p.(Glu1117Lys)" "32" "0000714855" "00001337" "70" "392" "0" "392" "0" "c.392G>A" "r.(?)" "p.(Gly131Asp)" "4" "0000714862" "00001337" "50" "718" "-3" "718" "-3" "c.718-3C>T" "r.spl?" "p.(=)" "7i" "0000728742" "00001337" "30" "2802" "0" "2802" "0" "c.2802C>G" "r.(?)" "p.(Cys934Trp)" "" "0000728743" "00001337" "30" "2568" "0" "2568" "0" "c.2568G>T" "r.(?)" "p.(Pro856=)" "" "0000728744" "00001337" "30" "2445" "0" "2445" "0" "c.2445C>T" "r.(?)" "p.(Gly815=)" "" "0000728745" "00001337" "30" "2172" "0" "2172" "0" "c.2172T>C" "r.(?)" "p.(Ser724=)" "" "0000728746" "00001337" "30" "2059" "0" "2059" "0" "c.2059C>T" "r.(?)" "p.(Arg687Cys)" "" "0000728747" "00001337" "30" "1569" "3" "1569" "3" "c.1569+3G>A" "r.spl?" "p.?" "" "0000810215" "00001337" "50" "3443" "0" "3443" "0" "c.3443C>T" "r.(?)" "p.(Thr1148Met)" "" "0000810216" "00001337" "50" "2956" "0" "2956" "0" "c.2956G>A" "r.(?)" "p.(Glu986Lys)" "" "0000810217" "00001337" "50" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Arg860Trp)" "" "0000810218" "00001337" "50" "1031" "0" "1031" "0" "c.1031A>G" "r.(?)" "p.(Asp344Gly)" "" "0000810219" "00001337" "70" "721" "0" "721" "0" "c.721A>G" "r.(?)" "p.(Ile241Val)" "" "0000810220" "00001337" "30" "-19128" "0" "-19128" "0" "c.-19128G>C" "r.(?)" "p.(=)" "" "0000856507" "00001337" "30" "1974" "0" "1974" "0" "c.1974C>T" "r.(?)" "p.(Asp658=)" "" "0000856508" "00001337" "50" "1490" "0" "1490" "0" "c.1490G>A" "r.(?)" "p.(Arg497Gln)" "" "0000856509" "00001337" "70" "797" "0" "797" "0" "c.797C>T" "r.(?)" "p.(Pro266Leu)" "" "0000856510" "00001337" "50" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Asp68Asn)" "" "0000867258" "00001337" "30" "2778" "0" "2778" "0" "c.2778G>A" "r.(?)" "p.(Thr926=)" "" "0000867259" "00001337" "50" "-15982" "0" "-15982" "0" "c.-15982T>A" "r.(?)" "p.(=)" "" "0000867260" "00001337" "30" "-29983" "0" "-29983" "0" "c.-29983C>A" "r.(?)" "p.(=)" "" "0000896050" "00001337" "30" "3705" "0" "3705" "0" "c.3705A>G" "r.(?)" "p.(Gln1235=)" "" "0000896051" "00001337" "30" "3243" "0" "3243" "0" "c.3243C>T" "r.(?)" "p.(Pro1081=)" "" "0000896052" "00001337" "90" "1489" "0" "1489" "0" "c.1489C>T" "r.(?)" "p.(Arg497*)" "" "0000896053" "00001337" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "" "0000915668" "00001337" "90" "3614" "0" "3614" "0" "c.3614C>T" "r.(?)" "p.(Pro1205Leu)" "" "0000927308" "00001337" "30" "3538" "-5" "3538" "-5" "c.3538-5T>G" "r.spl?" "p.?" "" "0000931369" "00001337" "50" "-23425" "0" "-23425" "0" "c.-23425G>T" "r.(?)" "p.(=)" "" "0000936415" "00001337" "50" "1531" "0" "1531" "0" "c.1531T>C" "r.(?)" "p.(Tyr511His)" "" "0000944613" "00001337" "70" "2709" "0" "2720" "0" "c.2709_2720delinsCATCT" "r.(?)" "p.(Arg903SerfsTer9)" "" "0000951730" "00001337" "50" "-19162" "0" "-19162" "0" "c.-19162C>G" "r.(?)" "p.(=)" "" "0000984592" "00001337" "30" "2568" "0" "2568" "0" "c.2568G>T" "r.(?)" "p.(Pro856=)" "" "0000984593" "00001337" "50" "-47103" "0" "-47103" "0" "c.-47103G>A" "r.(?)" "p.(=)" "" "0001006639" "00001337" "50" "-29927" "0" "-29927" "0" "c.-29927C>G" "r.(?)" "p.(=)" "" "0001006640" "00001337" "30" "-37202" "0" "-37202" "0" "c.-37202G>A" "r.(?)" "p.(=)" "" "0001008327" "00001337" "90" "3344" "0" "3344" "0" "c.3344C>T" "r.(?)" "p.(Pro1115Leu)" "" "0001029728" "00001337" "70" "2597" "6" "2597" "6" "c.2597+6T>C" "r.2597_2598ins[2597+1_2597+5;C;2597+7_2597+27]" "p.Pro867*" "23i" "0001044245" "00001337" "30" "619" "-388" "619" "-388" "c.619-388A>G" "r.(=)" "p.(=)" "" "0001044246" "00001337" "30" "472" "0" "472" "0" "c.472A>G" "r.(?)" "p.(Thr158Ala)" "" "0001044247" "00001337" "30" "-26671" "0" "-26671" "0" "c.-26671C>T" "r.(?)" "p.(=)" "" "0001057280" "00001337" "50" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Asp128Asn)" "" "0001057281" "00001337" "50" "-19026" "0" "-19026" "0" "c.-19026G>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 62 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002829" "0000000209" "0000006456" "0000000209" "0000006457" "0000000210" "0000008509" "0000000210" "0000010829" "0000000210" "0000010830" "0000000210" "0000010831" "0000000210" "0000014413" "0000224017" "0000456070" "0000224018" "0000456080" "0000224019" "0000456079" "0000224020" "0000456078" "0000224021" "0000456069" "0000224022" "0000456067" "0000224023" "0000456071" "0000224024" "0000456072" "0000224025" "0000456073" "0000224026" "0000456074" "0000224027" "0000456075" "0000224028" "0000456076" "0000224029" "0000456077" "0000224030" "0000456068" "0000246873" "0000499699" "0000296178" "0000652867" "0000313702" "0000695602" "0000330251" "0000714848" "0000330254" "0000714785" "0000330255" "0000714786" "0000330256" "0000714787" "0000330257" "0000714788" "0000330257" "0000714850" "0000330258" "0000714789" "0000330258" "0000714851" "0000330259" "0000714790" "0000330259" "0000714852" "0000330260" "0000714853" "0000330261" "0000714792" "0000330262" "0000714793" "0000330263" "0000714794" "0000330264" "0000714795" "0000330265" "0000714796" "0000330266" "0000714797" "0000330267" "0000714798" "0000330268" "0000714799" "0000330270" "0000714801" "0000330271" "0000714802" "0000330272" "0000714803" "0000330272" "0000714855" "0000330273" "0000714804" "0000330274" "0000714805" "0000330275" "0000714806" "0000330276" "0000714807" "0000330277" "0000714808" "0000330282" "0000714862" "0000330294" "0000714825" "0000330295" "0000714826" "0000330303" "0000714834" "0000330304" "0000714835" "0000330305" "0000714836" "0000440120" "0000936415" "0000456158" "0001008327" "0000465942" "0001029728"