### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PHKA1) # 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}}" "PHKA1" "phosphorylase kinase, alpha 1 (muscle)" "X" "q12-q13" "unknown" "NG_016599.2" "UD_132118587503" "" "https://www.LOVD.nl/PHKA1" "" "1" "8925" "5255" "311870" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 14:29:48" "00006" "2017-12-27 17:49:19" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00000571" "PHKA1" "transcript variant 2" "002" "NM_001122670.1" "" "NP_001116142.1" "" "" "" "-301" "5821" "3633" "71798664" "71934029" "00000" "2012-09-13 12:33:23" "" "" "00025560" "PHKA1" "transcript variant 1" "003" "NM_002637.3" "" "NP_002628.2" "" "" "" "-301" "5860" "3672" "71934029" "71798664" "00006" "2020-10-11 11:51:41" "" "" ## 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}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "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" "02167" "GSD9D" "storage disease, glycogen, type IXd (GSD-9D)" "XLR" "300559" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PHKA1" "02167" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "" "" "00050626" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "affected, unknown family members" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00144436" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00173328" "" "" "" "3" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00314389" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314390" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00363154" "" "" "" "1" "" "00454" "Luce 2021, submitted" "" "M" "" "Argentina" "" "0" "" "" "" "#713" "00442787" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat159" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00050626" "00198" "00144436" "00198" "00173328" "00187" "00314389" "05126" "00314390" "05126" "00363154" "05121" "00442787" "05618" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 01157, 02167, 05121, 05126, 05618 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000037238" "00198" "00050626" "00006" "Unknown" "" "clinodactyly of the 5th finger, intrauterine growth retardation, sparse scalp hair, defect in the atrial septum, plagiocephaly, microcephaly, growth delay" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000117204" "00198" "00144436" "01807" "Unknown" "" "Myopathy (HP:0003198); Mixed demyelinating and axonal polyneuropathy (HP:0007327); Hepatosplenomegaly (HP:0001433)" "" "" "" "" "" "" "" "" "" "" "" "" "0000138192" "00187" "00173328" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000258520" "05121" "00363154" "00454" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000332134" "05618" "00442787" "00006" "Unknown" "" "Muscle weakness and atrophy" "" "" "" "" "" "" "" "" "" "" "muscle weakness" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "0000050571" "00050626" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000145294" "00144436" "0" "01807" "01807" "2017-12-13 15:18:06" "" "" "SEQ" "DNA" "" "" "0000174211" "00173328" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000315562" "00314389" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315563" "00314390" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000364382" "00363154" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "SEQ-NG-I" "DNA" "BLOOD" "" "0000444271" "00442787" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000174211" "PJA1" "0000315562" "PHKA1" "0000315563" "PHKA1" "0000364382" "PHKA1" ## 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 = 85 "{{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}}" "0000002014" "0" "50" "X" "71813204" "71813204" "dup" "0" "00037" "PHKA1_000002" "g.71813204dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.72593354dup" "" "VUS" "" "0000002015" "0" "50" "X" "71813203" "71813204" "dup" "0" "00037" "PHKA1_000003" "g.71813203_71813204dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.72593353_72593354dup" "" "VUS" "" "0000002016" "20" "50" "X" "71933548" "71933549" "del" "0" "00037" "PHKA1_000006" "g.71933548_71933549del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.72713700_72713701del" "" "VUS" "" "0000003052" "20" "50" "X" "71813204" "71813204" "dup" "0" "00037" "PHKA1_000009" "g.71813204dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.72593354dup" "" "VUS" "" "0000003053" "0" "50" "X" "71896110" "71896111" "del" "0" "00037" "PHKA1_000008" "g.71896110_71896111del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.72676260_72676261del" "" "VUS" "" "0000009252" "0" "50" "X" "71813204" "71813204" "dup" "0" "00037" "PHKA1_000002" "g.71813204dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.72593354dup" "" "VUS" "" "0000009253" "0" "50" "X" "71829254" "71829254" "subst" "0" "00037" "PHKA1_000004" "g.71829254T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.72609404T>G" "" "VUS" "" "0000009254" "0" "50" "X" "71933548" "71933549" "del" "0" "00037" "PHKA1_000006" "g.71933548_71933549del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.72713700_72713701del" "" "VUS" "" "0000011033" "0" "50" "X" "71813204" "71813204" "dup" "0" "00037" "PHKA1_000009" "g.71813204dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.72593354dup" "" "VUS" "" "0000079551" "0" "90" "X" "71710644" "72095450" "del" "0" "00006" "HDAC8_000017" "g.71710644_72095450del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.72490794_72875600del" "" "pathogenic" "" "0000236393" "3" "90" "X" "71875972" "71875972" "subst" "1.67911E-5" "01807" "PHKA1_000007" "g.71875972G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.72656122G>A" "" "pathogenic" "" "0000300745" "0" "30" "X" "71813117" "71813117" "subst" "3.36295E-5" "02326" "PHKA1_000011" "g.71813117C>G" "" "" "" "PHKA1(NM_002637.3):c.3080G>C (p.G1027A), PHKA1(NM_002637.4):c.3080G>C (p.(Gly1027Ala), p.G1027A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72593267C>G" "" "likely benign" "" "0000300746" "0" "10" "X" "71801001" "71801001" "subst" "0.00155343" "02326" "PHKA1_000010" "g.71801001T>C" "" "" "" "PHKA1(NM_001122670.1):c.3484A>G (p.(Met1162Val)), PHKA1(NM_002637.3):c.3523A>G (p.M1175V), PHKA1(NM_002637.4):c.3523A>G (p.M1175V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72581151T>C" "" "benign" "" "0000305541" "0" "30" "X" "71839075" "71839075" "subst" "1.13522E-5" "01943" "PHKA1_000018" "g.71839075G>T" "" "" "" "PHKA1(NM_002637.3):c.2218C>A (p.Q740K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72619225G>T" "" "likely benign" "" "0000305542" "0" "10" "X" "71830942" "71830942" "subst" "0.00325901" "01943" "PHKA1_000015" "g.71830942C>T" "" "" "" "PHKA1(NM_001122670.1):c.2462G>A (p.(Arg821His)), PHKA1(NM_002637.3):c.2462G>A (p.R821H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72611092C>T" "" "benign" "" "0000305543" "0" "50" "X" "71821841" "71821841" "subst" "0" "01943" "PHKA1_000012" "g.71821841C>G" "" "" "" "PHKA1(NM_002637.3):c.3072G>C (p.Q1024H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72601991C>G" "" "VUS" "" "0000305544" "0" "30" "X" "71915583" "71915583" "subst" "0.0255316" "01943" "PHKA1_000023" "g.71915583G>A" "" "" "" "PHKA1(NM_002637.3):c.429C>T (p.L143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72695733G>A" "" "likely benign" "" "0000334648" "0" "50" "X" "71825211" "71825211" "subst" "0" "01804" "PHKA1_000014" "g.71825211G>C" "" "" "" "PHKA1(NM_001122670.1):c.2725C>G (p.(Pro909Ala)), PHKA1(NM_002637.3):c.2725C>G (p.P909A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72605361G>C" "" "VUS" "" "0000334650" "0" "50" "X" "71838594" "71838594" "subst" "5.04216E-5" "01804" "PHKA1_000017" "g.71838594G>T" "" "" "" "PHKA1(NM_001122670.1):c.2335C>A (p.(Gln779Lys)), PHKA1(NM_002637.4):c.2335C>A (p.Q779K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72618744G>T" "" "VUS" "" "0000334651" "0" "30" "X" "71846854" "71846854" "subst" "5.03736E-5" "01804" "PHKA1_000020" "g.71846854C>T" "" "" "" "PHKA1(NM_001122670.1):c.1760G>A (p.(Arg587Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72627004C>T" "" "likely benign" "" "0000334652" "0" "50" "X" "71872498" "71872498" "subst" "0.000552311" "01804" "PHKA1_000021" "g.71872498C>T" "" "" "" "PHKA1(NM_001122670.1):c.1141G>A (p.(Asp381Asn)), PHKA1(NM_002637.3):c.1141G>A (p.D381N), PHKA1(NM_002637.4):c.1141G>A (p.D381N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72652648C>T" "" "VUS" "" "0000334653" "0" "50" "X" "71876032" "71876032" "subst" "5.59506E-6" "01804" "PHKA1_000022" "g.71876032C>G" "" "" "" "PHKA1(NM_001122670.1):c.979G>C (p.(Glu327Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72656182C>G" "" "VUS" "" "0000343529" "0" "90" "X" "71822975" "71822975" "subst" "1.13668E-5" "02327" "PHKA1_000025" "g.71822975G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72603125G>A" "" "pathogenic" "" "0000350038" "0" "50" "X" "71876073" "71876073" "subst" "0" "02327" "PHKA1_000027" "g.71876073T>G" "" "" "" "PHKA1(NM_002637.3):c.938A>C (p.Y313S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72656223T>G" "" "VUS" "" "0000401229" "1" "30" "X" "71915583" "71915583" "subst" "0.0255316" "00124" "PHKA1_000023" "g.71915583G>A" "3/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L143L" "recurrent, found 3 times" "Germline" "" "" "0" "" "" "g.72695733G>A" "" "likely benign" "" "0000577367" "0" "30" "X" "71801001" "71801001" "subst" "0.00155343" "01804" "PHKA1_000010" "g.71801001T>C" "" "" "" "PHKA1(NM_001122670.1):c.3484A>G (p.(Met1162Val)), PHKA1(NM_002637.3):c.3523A>G (p.M1175V), PHKA1(NM_002637.4):c.3523A>G (p.M1175V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72581151T>C" "" "likely benign" "" "0000577368" "0" "50" "X" "71802250" "71802250" "subst" "0" "02327" "PHKA1_000028" "g.71802250G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72582400G>A" "" "VUS" "" "0000577369" "0" "50" "X" "71802382" "71802382" "subst" "5.60143E-5" "01943" "PHKA1_000029" "g.71802382C>G" "" "" "" "PHKA1(NM_002637.3):c.3364G>C (p.E1122Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72582532C>G" "" "VUS" "" "0000577370" "0" "50" "X" "71812955" "71812955" "subst" "5.59882E-6" "01804" "PHKA1_000030" "g.71812955T>G" "" "" "" "PHKA1(NM_001122670.1):c.3203A>C (p.(Lys1068Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72593105T>G" "" "VUS" "" "0000577372" "0" "30" "X" "71822127" "71822127" "subst" "0.000131197" "01804" "PHKA1_000032" "g.71822127T>C" "" "" "" "PHKA1(NM_001122670.1):c.2918-4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72602277T>C" "" "likely benign" "" "0000577373" "0" "50" "X" "71823028" "71823028" "subst" "0" "01943" "PHKA1_000033" "g.71823028G>A" "" "" "" "PHKA1(NM_002637.3):c.2858C>T (p.A953V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72603178G>A" "" "VUS" "" "0000577375" "0" "90" "X" "71829493" "71829493" "subst" "5.60234E-6" "02327" "PHKA1_000034" "g.71829493G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72609643G>A" "" "pathogenic" "" "0000577376" "0" "30" "X" "71839114" "71839114" "subst" "0.000158541" "01943" "PHKA1_000019" "g.71839114G>A" "" "" "" "PHKA1(NM_002637.3):c.2179C>T (p.R727W), PHKA1(NM_002637.4):c.2179C>T (p.R727W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72619264G>A" "" "likely benign" "" "0000577378" "0" "30" "X" "71846884" "71846884" "subst" "0" "01943" "PHKA1_000036" "g.71846884C>G" "" "" "" "PHKA1(NM_002637.3):c.1730G>C (p.S577T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72627034C>G" "" "likely benign" "" "0000577380" "0" "30" "X" "71872498" "71872498" "subst" "0.000552311" "01943" "PHKA1_000021" "g.71872498C>T" "" "" "" "PHKA1(NM_001122670.1):c.1141G>A (p.(Asp381Asn)), PHKA1(NM_002637.3):c.1141G>A (p.D381N), PHKA1(NM_002637.4):c.1141G>A (p.D381N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72652648C>T" "" "likely benign" "" "0000577381" "0" "30" "X" "71877466" "71877466" "subst" "0.000179173" "01943" "PHKA1_000038" "g.71877466A>G" "" "" "" "PHKA1(NM_002637.3):c.890T>C (p.L297P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72657616A>G" "" "likely benign" "" "0000577383" "0" "50" "X" "71932694" "71932694" "subst" "0" "01943" "PHKA1_000040" "g.71932694C>T" "" "" "" "PHKA1(NM_002637.3):c.164G>A (p.W55*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72712852C>T" "" "VUS" "" "0000619866" "0" "30" "X" "71801013" "71801013" "subst" "0.000197771" "01804" "PHKA1_000041" "g.71801013C>T" "" "" "" "PHKA1(NM_001122670.1):c.3472G>A (p.(Ala1158Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72581163C>T" "" "likely benign" "" "0000619867" "0" "30" "X" "71802328" "71802328" "subst" "0" "01943" "PHKA1_000042" "g.71802328T>C" "" "" "" "PHKA1(NM_002637.3):c.3418A>G (p.I1140V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72582478T>C" "" "likely benign" "" "0000619868" "0" "30" "X" "71813109" "71813109" "subst" "1.67925E-5" "01943" "PHKA1_000044" "g.71813109T>C" "" "" "" "PHKA1(NM_002637.3):c.3088A>G (p.M1030V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72593259T>C" "" "likely benign" "" "0000619869" "0" "30" "X" "71813117" "71813117" "subst" "3.36295E-5" "01943" "PHKA1_000011" "g.71813117C>G" "" "" "" "PHKA1(NM_002637.3):c.3080G>C (p.G1027A), PHKA1(NM_002637.4):c.3080G>C (p.(Gly1027Ala), p.G1027A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72593267C>G" "" "likely benign" "" "0000619870" "0" "30" "X" "71825113" "71825113" "subst" "0" "02327" "PHKA1_000045" "g.71825113T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72605263T>C" "" "likely benign" "" "0000619871" "0" "90" "X" "71825130" "71825130" "subst" "0" "02325" "PHKA1_000013" "g.71825130G>A" "" "" "" "PHKA1(NM_002637.4):c.2806C>T (p.R936*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72605280G>A" "" "pathogenic" "" "0000619872" "0" "30" "X" "71825385" "71825387" "del" "0" "02327" "PHKA1_000046" "g.71825385_71825387del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72605535_72605537del" "" "likely benign" "" "0000619873" "0" "30" "X" "71856148" "71856148" "subst" "1.11976E-5" "02327" "PHKA1_000047" "g.71856148A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72636298A>G" "" "likely benign" "" "0000619874" "0" "30" "X" "71885990" "71885990" "subst" "0.000937596" "02326" "PHKA1_000048" "g.71885990T>C" "" "" "" "PHKA1(NM_002637.4):c.864+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72666140T>C" "" "likely benign" "" "0000624710" "0" "50" "X" "71813027" "71813027" "subst" "1.11897E-5" "01943" "PHKA1_000043" "g.71813027C>T" "" "" "" "PHKA1(NM_002637.3):c.3170G>A (p.R1057Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72593177C>T" "" "VUS" "" "0000659441" "0" "50" "X" "71813031" "71813031" "subst" "1.67836E-5" "01804" "PHKA1_000049" "g.71813031G>A" "" "" "" "PHKA1(NM_001122670.1):c.3127C>T (p.(Arg1043Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72593181G>A" "" "VUS" "" "0000682624" "0" "30" "X" "71801001" "71801001" "subst" "0.00155343" "01943" "PHKA1_000010" "g.71801001T>C" "" "" "" "PHKA1(NM_001122670.1):c.3484A>G (p.(Met1162Val)), PHKA1(NM_002637.3):c.3523A>G (p.M1175V), PHKA1(NM_002637.4):c.3523A>G (p.M1175V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682625" "0" "30" "X" "71825173" "71825173" "subst" "0" "01943" "PHKA1_000050" "g.71825173A>T" "" "" "" "PHKA1(NM_002637.3):c.2763T>A (p.G921=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682626" "0" "50" "X" "71876073" "71876073" "subst" "0" "01943" "PHKA1_000027" "g.71876073T>G" "" "" "" "PHKA1(NM_002637.3):c.938A>C (p.Y313S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693727" "0" "50" "X" "71825180" "71825180" "subst" "5.61057E-6" "01943" "PHKA1_000051" "g.71825180C>T" "" "" "" "PHKA1(NM_002637.3):c.2756G>A (p.R919Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693728" "0" "50" "X" "71846869" "71846869" "subst" "5.59694E-6" "01943" "PHKA1_000052" "g.71846869A>G" "" "" "" "PHKA1(NM_002637.3):c.1745T>C (p.I582T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693729" "0" "30" "X" "71886082" "71886082" "subst" "5.60488E-6" "01943" "PHKA1_000053" "g.71886082T>G" "" "" "" "PHKA1(NM_002637.3):c.783A>C (p.S261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693730" "0" "50" "X" "71915681" "71915681" "subst" "0" "01943" "PHKA1_000054" "g.71915681T>C" "" "" "" "PHKA1(NM_002637.3):c.331A>G (p.S111G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000697651" "0" "70" "X" "71802382" "71802382" "subst" "5.60143E-5" "00006" "PHKA1_000029" "g.71802382C>G" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.72582532C>G" "" "likely pathogenic" "" "0000697652" "0" "70" "X" "71822037" "71822037" "subst" "0" "00006" "PHKA1_000055" "g.71822037T>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.72602187T>A" "" "likely pathogenic" "" "0000729167" "0" "30" "X" "71830942" "71830942" "subst" "0.00325901" "01804" "PHKA1_000015" "g.71830942C>T" "" "" "" "PHKA1(NM_001122670.1):c.2462G>A (p.(Arg821His)), PHKA1(NM_002637.3):c.2462G>A (p.R821H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729168" "0" "30" "X" "71838564" "71838564" "subst" "0.00111145" "01943" "PHKA1_000016" "g.71838564T>C" "" "" "" "PHKA1(NM_002637.3):c.2365A>G (p.M789V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729169" "0" "50" "X" "71838594" "71838594" "subst" "5.04216E-5" "02329" "PHKA1_000017" "g.71838594G>T" "" "" "" "PHKA1(NM_001122670.1):c.2335C>A (p.(Gln779Lys)), PHKA1(NM_002637.4):c.2335C>A (p.Q779K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729170" "0" "50" "X" "71839114" "71839114" "subst" "0.000158541" "02329" "PHKA1_000019" "g.71839114G>A" "" "" "" "PHKA1(NM_002637.3):c.2179C>T (p.R727W), PHKA1(NM_002637.4):c.2179C>T (p.R727W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729171" "0" "50" "X" "71856188" "71856188" "subst" "0" "02325" "PHKA1_000037" "g.71856188C>T" "" "" "" "PHKA1(NM_002637.4):c.1508G>A (p.G503E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729172" "0" "50" "X" "71856188" "71856188" "subst" "0" "02329" "PHKA1_000037" "g.71856188C>T" "" "" "" "PHKA1(NM_002637.4):c.1508G>A (p.G503E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729173" "0" "30" "X" "71864206" "71864208" "del" "0" "01943" "PHKA1_000056" "g.71864206_71864208del" "" "" "" "PHKA1(NM_002637.3):c.1459+6_1459+8delGAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729174" "0" "50" "X" "71877488" "71877488" "subst" "0.000168186" "01943" "PHKA1_000057" "g.71877488G>A" "" "" "" "PHKA1(NM_002637.3):c.868C>T (p.R290C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729175" "0" "50" "X" "71915637" "71915637" "subst" "0" "01943" "PHKA1_000058" "g.71915637C>T" "" "" "" "PHKA1(NM_002637.3):c.375G>A (p.V125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729176" "0" "50" "X" "71932782" "71932782" "subst" "0" "01943" "PHKA1_000059" "g.71932782G>T" "" "" "" "PHKA1(NM_002637.3):c.79-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000765162" "0" "90" "X" "71802286" "71802286" "del" "0" "00454" "PHKA1_000060" "g.71802286del" "" "Luce 2021, submitted" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000810648" "0" "90" "X" "71822046" "71822046" "subst" "5.62686E-6" "01943" "PHKA1_000061" "g.71822046G>A" "" "" "" "PHKA1(NM_002637.3):c.2995C>T (p.R999*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810649" "0" "30" "X" "71932785" "71932785" "dup" "0" "01943" "PHKA1_000062" "g.71932785dup" "" "" "" "PHKA1(NM_002637.3):c.79-5_79-4insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856778" "0" "50" "X" "71802375" "71802375" "subst" "5.60133E-6" "01943" "PHKA1_000063" "g.71802375C>T" "" "" "" "PHKA1(NM_002637.3):c.3371G>A (p.R1124H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856779" "0" "50" "X" "71876032" "71876032" "subst" "5.59506E-6" "02327" "PHKA1_000022" "g.71876032C>G" "" "" "" "PHKA1(NM_001122670.1):c.979G>C (p.(Glu327Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856780" "0" "50" "X" "71895945" "71895945" "subst" "0" "01943" "PHKA1_000065" "g.71895945T>C" "" "" "" "PHKA1(NM_002637.3):c.593A>G (p.N198S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867551" "0" "30" "X" "71813062" "71813062" "subst" "0" "01943" "PHKA1_000064" "g.71813062T>C" "" "" "" "PHKA1(NM_002637.3):c.3135A>G (p.S1045=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867552" "0" "50" "X" "71825211" "71825211" "subst" "0" "01943" "PHKA1_000014" "g.71825211G>C" "" "" "" "PHKA1(NM_001122670.1):c.2725C>G (p.(Pro909Ala)), PHKA1(NM_002637.3):c.2725C>G (p.P909A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896358" "0" "50" "X" "71800901" "71800901" "subst" "1.13225E-5" "02325" "PHKA1_000066" "g.71800901G>A" "" "" "" "PHKA1(NM_002637.4):c.3623C>T (p.A1208V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896359" "0" "50" "X" "71802375" "71802375" "subst" "5.60133E-6" "02327" "PHKA1_000063" "g.71802375C>T" "" "" "" "PHKA1(NM_002637.3):c.3371G>A (p.R1124H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896360" "0" "70" "X" "71877464" "71877464" "subst" "0" "02327" "PHKA1_000067" "g.71877464G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000927419" "0" "30" "X" "71886030" "71886030" "subst" "5.6182E-6" "02327" "PHKA1_000068" "g.71886030T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931461" "0" "30" "X" "71872498" "71872498" "subst" "0.000552311" "02325" "PHKA1_000021" "g.71872498C>T" "" "" "" "PHKA1(NM_001122670.1):c.1141G>A (p.(Asp381Asn)), PHKA1(NM_002637.3):c.1141G>A (p.D381N), PHKA1(NM_002637.4):c.1141G>A (p.D381N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946127" "0" "50" "X" "71876073" "71876073" "subst" "0" "00006" "PHKA1_000027" "g.71876073T>G" "" "{PMID:Westra 2019:31127727}" "" "" "present in affected brother" "Germline/De novo (untested)" "" "" "0" "" "" "g.72656223T>G" "" "VUS" "" "0000984853" "0" "30" "X" "71843132" "71843132" "subst" "1.15778E-5" "01804" "PHKA1_000070" "g.71843132A>T" "" "" "" "PHKA1(NM_002637.4):c.1794-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001016056" "0" "50" "X" "71886002" "71886002" "subst" "0" "02327" "PHKA1_000071" "g.71886002T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027532" "0" "30" "X" "71802396" "71802396" "subst" "0.000134618" "02326" "PHKA1_000072" "g.71802396C>T" "" "" "" "PHKA1(NM_002637.4):c.3350G>A (p.R1117H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044500" "0" "30" "X" "71813117" "71813117" "subst" "3.36295E-5" "01804" "PHKA1_000011" "g.71813117C>G" "" "" "" "PHKA1(NM_002637.3):c.3080G>C (p.G1027A), PHKA1(NM_002637.4):c.3080G>C (p.(Gly1027Ala), p.G1027A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 PHKA1 ## Count = 164 "{{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}}" "0000002014" "00000571" "50" "3034" "-68" "3034" "-68" "c.3034-68dup" "r.(=)" "p.(=)" "" "0000002014" "00025560" "50" "3073" "-80" "3073" "-80" "c.3073-80dup" "r.(=)" "p.(=)" "" "0000002015" "00000571" "50" "3034" "-69" "3034" "-68" "c.3034-69_3034-68dup" "r.(=)" "p.(=)" "" "0000002015" "00025560" "50" "3073" "-80" "3073" "-79" "c.3073-80_3073-79dup" "r.(=)" "p.(=)" "" "0000002016" "00000571" "50" "78" "137" "78" "138" "c.78+137_78+138del" "r.(=)" "p.(=)" "" "0000002016" "00025560" "50" "78" "102" "78" "103" "c.78+102_78+103del" "r.(=)" "p.(=)" "" "0000003052" "00000571" "50" "3034" "-68" "3034" "-68" "c.3034-68dup" "r.(=)" "p.(=)" "" "0000003052" "00025560" "50" "3073" "-80" "3073" "-80" "c.3073-80dup" "r.(=)" "p.(=)" "" "0000003053" "00000571" "50" "538" "-111" "538" "-110" "c.538-111_538-110del" "r.(=)" "p.(=)" "" "0000003053" "00025560" "50" "538" "-111" "538" "-110" "c.538-111_538-110del" "r.(=)" "p.(=)" "" "0000009252" "00000571" "50" "3034" "-68" "3034" "-68" "c.3034-68dup" "r.(=)" "p.(=)" "" "0000009252" "00025560" "50" "3073" "-80" "3073" "-80" "c.3073-80dup" "r.(=)" "p.(=)" "" "0000009253" "00000571" "50" "2606" "220" "2606" "220" "c.2606+220A>C" "r.(=)" "p.(=)" "" "0000009253" "00025560" "50" "2606" "220" "2606" "220" "c.2606+220A>C" "r.(=)" "p.(=)" "" "0000009254" "00000571" "50" "78" "137" "78" "138" "c.78+137_78+138del" "r.(=)" "p.(=)" "" "0000009254" "00025560" "50" "78" "102" "78" "103" "c.78+102_78+103del" "r.(=)" "p.(=)" "" "0000011033" "00000571" "50" "3034" "-68" "3034" "-68" "c.3034-68dup" "r.(=)" "p.(=)" "" "0000011033" "00025560" "50" "3073" "-80" "3073" "-80" "c.3073-80dup" "r.(=)" "p.(=)" "" "0000079551" "00000571" "00" "-161722" "0" "93841" "0" "c.-161722_*90208del" "r.0?" "p.0?" "" "0000079551" "00025560" "90" "-161722" "0" "93880" "0" "c.-161722_*90208del" "r.0?" "p.0?" "" "0000236393" "00000571" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" "" "0000300745" "00000571" "30" "3041" "0" "3041" "0" "c.3041G>C" "r.(?)" "p.(Gly1014Ala)" "" "0000300745" "00025560" "30" "3080" "0" "3080" "0" "c.3080G>C" "r.(?)" "p.(Gly1027Ala)" "" "0000300746" "00000571" "10" "3484" "0" "3484" "0" "c.3484A>G" "r.(?)" "p.(Met1162Val)" "" "0000300746" "00025560" "10" "3523" "0" "3523" "0" "c.3523A>G" "r.(?)" "p.(Met1175Val)" "" "0000305541" "00000571" "30" "2218" "0" "2218" "0" "c.2218C>A" "r.(?)" "p.(Gln740Lys)" "" "0000305541" "00025560" "30" "2218" "0" "2218" "0" "c.2218C>A" "r.(?)" "p.(Gln740Lys)" "" "0000305542" "00000571" "10" "2462" "0" "2462" "0" "c.2462G>A" "r.(?)" "p.(Arg821His)" "" "0000305542" "00025560" "10" "2462" "0" "2462" "0" "c.2462G>A" "r.(?)" "p.(Arg821His)" "" "0000305543" "00000571" "50" "3033" "167" "3033" "167" "c.3033+167G>C" "r.(=)" "p.(=)" "" "0000305543" "00025560" "50" "3072" "0" "3072" "0" "c.3072G>C" "r.(?)" "p.(Gln1024His)" "" "0000305544" "00000571" "30" "429" "0" "429" "0" "c.429C>T" "r.(?)" "p.(Leu143=)" "" "0000305544" "00025560" "30" "429" "0" "429" "0" "c.429C>T" "r.(?)" "p.(Leu143=)" "" "0000334648" "00000571" "50" "2725" "0" "2725" "0" "c.2725C>G" "r.(?)" "p.(Pro909Ala)" "" "0000334648" "00025560" "50" "2725" "0" "2725" "0" "c.2725C>G" "r.(?)" "p.(Pro909Ala)" "" "0000334650" "00000571" "50" "2335" "0" "2335" "0" "c.2335C>A" "r.(?)" "p.(Gln779Lys)" "" "0000334650" "00025560" "50" "2335" "0" "2335" "0" "c.2335C>A" "r.(?)" "p.(Gln779Lys)" "" "0000334651" "00000571" "30" "1760" "0" "1760" "0" "c.1760G>A" "r.(?)" "p.(Arg587Gln)" "" "0000334651" "00025560" "30" "1760" "0" "1760" "0" "c.1760G>A" "r.(?)" "p.(Arg587Gln)" "" "0000334652" "00000571" "50" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Asp381Asn)" "" "0000334652" "00025560" "50" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Asp381Asn)" "" "0000334653" "00000571" "50" "979" "0" "979" "0" "c.979G>C" "r.(?)" "p.(Glu327Gln)" "" "0000334653" "00025560" "50" "979" "0" "979" "0" "c.979G>C" "r.(?)" "p.(Glu327Gln)" "" "0000343529" "00000571" "90" "2911" "0" "2911" "0" "c.2911C>T" "r.(?)" "p.(Arg971Ter)" "" "0000343529" "00025560" "90" "2911" "0" "2911" "0" "c.2911C>T" "r.(?)" "p.(Arg971Ter)" "" "0000350038" "00000571" "50" "938" "0" "938" "0" "c.938A>C" "r.(?)" "p.(Tyr313Ser)" "" "0000350038" "00025560" "50" "938" "0" "938" "0" "c.938A>C" "r.(?)" "p.(Tyr313Ser)" "" "0000401229" "00000571" "30" "429" "0" "429" "0" "c.429C>T" "r.(?)" "p.(=)" "4" "0000577367" "00000571" "30" "3484" "0" "3484" "0" "c.3484A>G" "r.(?)" "p.(Met1162Val)" "" "0000577367" "00025560" "30" "3523" "0" "3523" "0" "c.3523A>G" "r.(?)" "p.(Met1175Val)" "" "0000577368" "00000571" "50" "3457" "0" "3457" "0" "c.3457C>T" "r.(?)" "p.(Gln1153Ter)" "" "0000577368" "00025560" "50" "3496" "0" "3496" "0" "c.3496C>T" "r.(?)" "p.(Gln1166Ter)" "" "0000577369" "00000571" "50" "3325" "0" "3325" "0" "c.3325G>C" "r.(?)" "p.(Glu1109Gln)" "" "0000577369" "00025560" "50" "3364" "0" "3364" "0" "c.3364G>C" "r.(?)" "p.(Glu1122Gln)" "" "0000577370" "00000571" "50" "3203" "0" "3203" "0" "c.3203A>C" "r.(?)" "p.(Lys1068Thr)" "" "0000577370" "00025560" "50" "3242" "0" "3242" "0" "c.3242A>C" "r.(?)" "p.(Lys1081Thr)" "" "0000577372" "00000571" "30" "2918" "-4" "2918" "-4" "c.2918-4A>G" "r.spl?" "p.?" "" "0000577372" "00025560" "30" "2918" "-4" "2918" "-4" "c.2918-4A>G" "r.spl?" "p.?" "" "0000577373" "00000571" "50" "2858" "0" "2858" "0" "c.2858C>T" "r.(?)" "p.(Ala953Val)" "" "0000577373" "00025560" "50" "2858" "0" "2858" "0" "c.2858C>T" "r.(?)" "p.(Ala953Val)" "" "0000577375" "00000571" "90" "2587" "0" "2587" "0" "c.2587C>T" "r.(?)" "p.(Arg863Ter)" "" "0000577375" "00025560" "90" "2587" "0" "2587" "0" "c.2587C>T" "r.(?)" "p.(Arg863Ter)" "" "0000577376" "00000571" "30" "2179" "0" "2179" "0" "c.2179C>T" "r.(?)" "p.(Arg727Trp)" "" "0000577376" "00025560" "30" "2179" "0" "2179" "0" "c.2179C>T" "r.(?)" "p.(Arg727Trp)" "" "0000577378" "00000571" "30" "1730" "0" "1730" "0" "c.1730G>C" "r.(?)" "p.(Ser577Thr)" "" "0000577378" "00025560" "30" "1730" "0" "1730" "0" "c.1730G>C" "r.(?)" "p.(Ser577Thr)" "" "0000577380" "00000571" "30" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Asp381Asn)" "" "0000577380" "00025560" "30" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Asp381Asn)" "" "0000577381" "00000571" "30" "890" "0" "890" "0" "c.890T>C" "r.(?)" "p.(Leu297Pro)" "" "0000577381" "00025560" "30" "890" "0" "890" "0" "c.890T>C" "r.(?)" "p.(Leu297Pro)" "" "0000577383" "00000571" "50" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Trp55Ter)" "" "0000577383" "00025560" "50" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Trp55Ter)" "" "0000619866" "00000571" "30" "3472" "0" "3472" "0" "c.3472G>A" "r.(?)" "p.(Ala1158Thr)" "" "0000619866" "00025560" "30" "3511" "0" "3511" "0" "c.3511G>A" "r.(?)" "p.(Ala1171Thr)" "" "0000619867" "00000571" "30" "3379" "0" "3379" "0" "c.3379A>G" "r.(?)" "p.(Ile1127Val)" "" "0000619867" "00025560" "30" "3418" "0" "3418" "0" "c.3418A>G" "r.(?)" "p.(Ile1140Val)" "" "0000619868" "00000571" "30" "3049" "0" "3049" "0" "c.3049A>G" "r.(?)" "p.(Met1017Val)" "" "0000619868" "00025560" "30" "3088" "0" "3088" "0" "c.3088A>G" "r.(?)" "p.(Met1030Val)" "" "0000619869" "00000571" "30" "3041" "0" "3041" "0" "c.3041G>C" "r.(?)" "p.(Gly1014Ala)" "" "0000619869" "00025560" "30" "3080" "0" "3080" "0" "c.3080G>C" "r.(?)" "p.(Gly1027Ala)" "" "0000619870" "00000571" "30" "2815" "8" "2815" "8" "c.2815+8A>G" "r.(=)" "p.(=)" "" "0000619870" "00025560" "30" "2815" "8" "2815" "8" "c.2815+8A>G" "r.(=)" "p.(=)" "" "0000619871" "00000571" "90" "2806" "0" "2806" "0" "c.2806C>T" "r.(?)" "p.(Arg936Ter)" "" "0000619871" "00025560" "90" "2806" "0" "2806" "0" "c.2806C>T" "r.(?)" "p.(Arg936Ter)" "" "0000619872" "00000571" "30" "2685" "8" "2685" "10" "c.2685+8_2685+10del" "r.(=)" "p.(=)" "" "0000619872" "00025560" "30" "2685" "8" "2685" "10" "c.2685+8_2685+10del" "r.(=)" "p.(=)" "" "0000619873" "00000571" "30" "1548" "0" "1548" "0" "c.1548T>C" "r.(?)" "p.(Thr516=)" "" "0000619873" "00025560" "30" "1548" "0" "1548" "0" "c.1548T>C" "r.(?)" "p.(Thr516=)" "" "0000619874" "00000571" "30" "864" "11" "864" "11" "c.864+11A>G" "r.(=)" "p.(=)" "" "0000619874" "00025560" "30" "864" "11" "864" "11" "c.864+11A>G" "r.(=)" "p.(=)" "" "0000624710" "00000571" "50" "3131" "0" "3131" "0" "c.3131G>A" "r.(?)" "p.(Arg1044Gln)" "" "0000624710" "00025560" "50" "3170" "0" "3170" "0" "c.3170G>A" "r.(?)" "p.(Arg1057Gln)" "" "0000659441" "00000571" "50" "3127" "0" "3127" "0" "c.3127C>T" "r.(?)" "p.(Arg1043Cys)" "" "0000659441" "00025560" "50" "3166" "0" "3166" "0" "c.3166C>T" "r.(?)" "p.(Arg1056Cys)" "" "0000682624" "00000571" "30" "3484" "0" "3484" "0" "c.3484A>G" "r.(?)" "p.(Met1162Val)" "" "0000682624" "00025560" "30" "3523" "0" "3523" "0" "c.3523A>G" "r.(?)" "p.(Met1175Val)" "" "0000682625" "00000571" "30" "2763" "0" "2763" "0" "c.2763T>A" "r.(?)" "p.(Gly921=)" "" "0000682625" "00025560" "30" "2763" "0" "2763" "0" "c.2763T>A" "r.(?)" "p.(Gly921=)" "" "0000682626" "00000571" "50" "938" "0" "938" "0" "c.938A>C" "r.(?)" "p.(Tyr313Ser)" "" "0000682626" "00025560" "50" "938" "0" "938" "0" "c.938A>C" "r.(?)" "p.(Tyr313Ser)" "" "0000693727" "00000571" "50" "2756" "0" "2756" "0" "c.2756G>A" "r.(?)" "p.(Arg919Gln)" "" "0000693727" "00025560" "50" "2756" "0" "2756" "0" "c.2756G>A" "r.(?)" "p.(Arg919Gln)" "" "0000693728" "00000571" "50" "1745" "0" "1745" "0" "c.1745T>C" "r.(?)" "p.(Ile582Thr)" "" "0000693728" "00025560" "50" "1745" "0" "1745" "0" "c.1745T>C" "r.(?)" "p.(Ile582Thr)" "" "0000693729" "00000571" "30" "783" "0" "783" "0" "c.783A>C" "r.(?)" "p.(Ser261=)" "" "0000693729" "00025560" "30" "783" "0" "783" "0" "c.783A>C" "r.(?)" "p.(Ser261=)" "" "0000693730" "00000571" "50" "331" "0" "331" "0" "c.331A>G" "r.(?)" "p.(Ser111Gly)" "" "0000693730" "00025560" "50" "331" "0" "331" "0" "c.331A>G" "r.(?)" "p.(Ser111Gly)" "" "0000697651" "00025560" "70" "3364" "0" "3364" "0" "c.3364G>C" "r.(?)" "p.(Glu1122Gln)" "" "0000697652" "00025560" "70" "3004" "0" "3004" "0" "c.3004A>T" "r.(?)" "p.(Ile1002Phe)" "" "0000729167" "00000571" "30" "2462" "0" "2462" "0" "c.2462G>A" "r.(?)" "p.(Arg821His)" "" "0000729167" "00025560" "30" "2462" "0" "2462" "0" "c.2462G>A" "r.(?)" "p.(Arg821His)" "" "0000729168" "00000571" "30" "2365" "0" "2365" "0" "c.2365A>G" "r.(?)" "p.(Met789Val)" "" "0000729168" "00025560" "30" "2365" "0" "2365" "0" "c.2365A>G" "r.(?)" "p.(Met789Val)" "" "0000729169" "00000571" "50" "2335" "0" "2335" "0" "c.2335C>A" "r.(?)" "p.(Gln779Lys)" "" "0000729169" "00025560" "50" "2335" "0" "2335" "0" "c.2335C>A" "r.(?)" "p.(Gln779Lys)" "" "0000729170" "00000571" "50" "2179" "0" "2179" "0" "c.2179C>T" "r.(?)" "p.(Arg727Trp)" "" "0000729170" "00025560" "50" "2179" "0" "2179" "0" "c.2179C>T" "r.(?)" "p.(Arg727Trp)" "" "0000729171" "00000571" "50" "1508" "0" "1508" "0" "c.1508G>A" "r.(?)" "p.(Gly503Glu)" "" "0000729171" "00025560" "50" "1508" "0" "1508" "0" "c.1508G>A" "r.(?)" "p.(Gly503Glu)" "" "0000729172" "00000571" "50" "1508" "0" "1508" "0" "c.1508G>A" "r.(?)" "p.(Gly503Glu)" "" "0000729172" "00025560" "50" "1508" "0" "1508" "0" "c.1508G>A" "r.(?)" "p.(Gly503Glu)" "" "0000729173" "00000571" "30" "1459" "6" "1459" "8" "c.1459+6_1459+8del" "r.(=)" "p.(=)" "" "0000729173" "00025560" "30" "1459" "6" "1459" "8" "c.1459+6_1459+8del" "r.(=)" "p.(=)" "" "0000729174" "00000571" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Cys)" "" "0000729174" "00025560" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Cys)" "" "0000729175" "00000571" "50" "375" "0" "375" "0" "c.375G>A" "r.(?)" "p.(Val125=)" "" "0000729175" "00025560" "50" "375" "0" "375" "0" "c.375G>A" "r.(?)" "p.(Val125=)" "" "0000729176" "00000571" "50" "79" "-3" "79" "-3" "c.79-3C>A" "r.spl?" "p.?" "" "0000729176" "00025560" "50" "79" "-3" "79" "-3" "c.79-3C>A" "r.spl?" "p.?" "" "0000765162" "00025560" "90" "3460" "0" "3460" "0" "c.3460del" "r.(?)" "p.(Ile1154*)" "31" "0000810648" "00000571" "90" "2995" "0" "2995" "0" "c.2995C>T" "r.(?)" "p.(Arg999*)" "" "0000810648" "00025560" "90" "2995" "0" "2995" "0" "c.2995C>T" "r.(?)" "p.(Arg999*)" "" "0000810649" "00000571" "30" "79" "-5" "79" "-5" "c.79-5dup" "r.spl?" "p.?" "" "0000810649" "00025560" "30" "79" "-5" "79" "-5" "c.79-5dup" "r.spl?" "p.?" "" "0000856778" "00000571" "50" "3332" "0" "3332" "0" "c.3332G>A" "r.(?)" "p.(Arg1111His)" "" "0000856778" "00025560" "50" "3371" "0" "3371" "0" "c.3371G>A" "r.(?)" "p.(Arg1124His)" "" "0000856779" "00000571" "50" "979" "0" "979" "0" "c.979G>C" "r.(?)" "p.(Glu327Gln)" "" "0000856779" "00025560" "50" "979" "0" "979" "0" "c.979G>C" "r.(?)" "p.(Glu327Gln)" "" "0000856780" "00000571" "50" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Asn198Ser)" "" "0000856780" "00025560" "50" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Asn198Ser)" "" "0000867551" "00000571" "30" "3096" "0" "3096" "0" "c.3096A>G" "r.(?)" "p.(Ser1032=)" "" "0000867551" "00025560" "30" "3135" "0" "3135" "0" "c.3135A>G" "r.(?)" "p.(Ser1045=)" "" "0000867552" "00000571" "50" "2725" "0" "2725" "0" "c.2725C>G" "r.(?)" "p.(Pro909Ala)" "" "0000867552" "00025560" "50" "2725" "0" "2725" "0" "c.2725C>G" "r.(?)" "p.(Pro909Ala)" "" "0000896358" "00000571" "50" "3584" "0" "3584" "0" "c.3584C>T" "r.(?)" "p.(Ala1195Val)" "" "0000896358" "00025560" "50" "3623" "0" "3623" "0" "c.3623C>T" "r.(?)" "p.(Ala1208Val)" "" "0000896359" "00000571" "50" "3332" "0" "3332" "0" "c.3332G>A" "r.(?)" "p.(Arg1111His)" "" "0000896359" "00025560" "50" "3371" "0" "3371" "0" "c.3371G>A" "r.(?)" "p.(Arg1124His)" "" "0000896360" "00000571" "70" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Arg298*)" "" "0000896360" "00025560" "70" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Arg298*)" "" "0000927419" "00000571" "30" "835" "0" "835" "0" "c.835A>G" "r.(?)" "p.(Thr279Ala)" "" "0000927419" "00025560" "30" "835" "0" "835" "0" "c.835A>G" "r.(?)" "p.(Thr279Ala)" "" "0000931461" "00000571" "30" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Asp381Asn)" "" "0000931461" "00025560" "30" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Asp381Asn)" "" "0000946127" "00025560" "50" "938" "0" "938" "0" "c.938A>C" "r.(?)" "p.(Tyr313Ser)" "" "0000984853" "00000571" "30" "1794" "-7" "1794" "-7" "c.1794-7T>A" "r.(=)" "p.(=)" "" "0000984853" "00025560" "30" "1794" "-7" "1794" "-7" "c.1794-7T>A" "r.(=)" "p.(=)" "" "0001016056" "00000571" "50" "863" "0" "863" "0" "c.863A>G" "r.(?)" "p.(Gln288Arg)" "" "0001016056" "00025560" "50" "863" "0" "863" "0" "c.863A>G" "r.(?)" "p.(Gln288Arg)" "" "0001027532" "00000571" "30" "3311" "0" "3311" "0" "c.3311G>A" "r.(?)" "p.(Arg1104His)" "" "0001027532" "00025560" "30" "3350" "0" "3350" "0" "c.3350G>A" "r.(?)" "p.(Arg1117His)" "" "0001044500" "00000571" "30" "3041" "0" "3041" "0" "c.3041G>C" "r.(?)" "p.(Gly1014Ala)" "" "0001044500" "00025560" "30" "3080" "0" "3080" "0" "c.3080G>C" "r.(?)" "p.(Gly1027Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002014" "0000000209" "0000002015" "0000000209" "0000002016" "0000000209" "0000003052" "0000000209" "0000003053" "0000000210" "0000009252" "0000000210" "0000009253" "0000000210" "0000009254" "0000000210" "0000011033" "0000050571" "0000079551" "0000145294" "0000236393" "0000174211" "0000401229" "0000315562" "0000697651" "0000315563" "0000697652" "0000364382" "0000765162" "0000444271" "0000946127"