### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRX) # 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}}" "PRX" "periaxin" "19" "q13.2" "unknown" "NG_007979.1" "UD_132118747724" "" "https://www.LOVD.nl/PRX" "" "1" "13797" "57716" "605725" "1" "1" "1" "1" "This database is one of the gene variant databases from the:.\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "g" "https://databases.lovd.nl/shared/refseq/PRX_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2017-12-28 09:54:41" "00006" "2026-04-13 18:23:33" ## 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}}" "00016986" "PRX" "transcript variant 1" "002" "NM_020956.2" "" "NP_066007.1" "" "" "" "-269" "5237" "444" "40919271" "40899671" "" "0000-00-00 00:00:00" "" "" "00023867" "PRX" "transcript variant 2" "001" "NM_181882.2" "" "NP_870998.2" "" "" "" "-269" "4588" "4386" "40919271" "40899671" "00008" "2013-11-25 16:43:20" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{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" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "01387" "DejerineSottas" "Dejerine-Sottas disease (hypertrophic neuropathy)" "AD;AR" "145900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-01-06 13:53:03" "03781" "CMT4F" "Charcot-Marie-Tooth disease, type 4F (CMT-4F)" "AR" "614895" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05157" "HMSN" "neuropathy, motor and sensory, hereditary (HMSN)" "" "" "" "" "" "00006" "2016-04-15 10:26:05" "" "" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" "07235" "leukodystrophy" "leukodystrophy" "" "" "" "" "" "00006" "2026-03-03 15:05:03" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PRX" "01387" "PRX" "03781" ## Individuals ## Do not remove or alter this header ## ## Count = 55 "{{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}}" "00036592" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036593" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036594" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036595" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036596" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036597" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00151385" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00151902" "" "" "" "1" "" "00006" "{PMID:Takashima 2002:12112076}" "" "" "" "" "" "0" "" "" "" "" "00151903" "" "" "" "1" "" "00006" "{PMID:Otagiri 2006:16770524}" "" "" "" "" "" "0" "" "" "" "" "00151904" "" "" "" "8" "" "00006" "{PMID:Guilbot 2001:11157804}" "5-generation family, 8 affected (4F, 4M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Lebanon" "" "0" "" "" "" "family" "00151905" "" "" "" "1" "" "00006" "{PMID:Baets 2011:21840889}" "" "" "" "" "" "0" "" "" "" "" "00151906" "" "" "" "1" "" "00006" "{PMID:Marchesi 2010:21079185}" "" "" "" "" "" "0" "" "" "" "" "00151907" "" "" "" "1" "" "00006" "{PMID:Nouioua 2011:21741241}" "" "" "" "" "" "0" "" "" "" "" "00151908" "" "" "" "1" "" "00006" "{PMID:Boerkoel 2001:11133365}" "" "" "" "" "" "0" "" "" "" "" "00151909" "" "" "" "1" "" "00006" "{PMID:Kabzinska 2006:16534116}" "" "" "" "" "" "0" "" "" "" "" "00151910" "" "" "" "1" "" "00006" "{PMID:Marchesi 2010:21079185}" "" "" "" "" "" "0" "" "" "" "" "00151911" "" "" "" "1" "" "00006" "{PMID:Marchesi 2010:21079185}" "" "" "" "" "" "0" "" "" "" "" "00151912" "" "" "" "1" "" "00006" "{PMID:Auer-Grumbach 2008:18504680}" "" "" "" "" "" "0" "" "" "" "" "00151913" "" "" "" "1" "" "00006" "{PMID:Takashima 2002:12112076}" "" "" "" "" "" "0" "" "" "" "" "00151914" "" "" "" "1" "" "00006" "{PMID:Boerkoel 2001:11133365}" "" "" "" "" "" "0" "" "" "" "" "00151915" "" "" "" "1" "" "00006" "{PMID:Marchesi 2010:21079185}" "" "" "" "" "" "0" "" "" "" "" "00151916" "" "" "" "1" "" "00006" "{PMID:Boerkoel 2001:11133365}" "" "" "" "" "" "0" "" "" "" "" "00151917" "" "" "" "1" "" "00006" "{PMID:Boerkoel 2001:11133365}" "" "" "" "" "" "0" "" "" "" "" "00151918" "" "" "" "1" "" "00006" "{PMID:Kabzinska 2009:19837996}" "" "" "" "" "" "0" "" "" "" "" "00151919" "" "" "" "1" "" "00006" "{PMID:Kijima 2004:15197604}" "" "" "" "" "" "0" "" "" "" "" "00151920" "" "" "" "1" "" "00006" "{PMID:Baets 2011:21840889}" "" "" "" "" "" "0" "" "" "" "" "00219072" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat82" "00219073" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat83" "00219074" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat84" "00219075" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat85" "00263958" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263959" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00292120" "" "" "" "29" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292121" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292122" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292123" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292124" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292125" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303628" "" "" "" "2" "" "00006" "{PMID:Makrythanasis 2014:25044680}" "family, 2 affected" "" "yes" "Egypt" "" "0" "" "" "" "Family_39" "00304660" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374451" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5616" "00391977" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "no" "India" "" "0" "yes" "" "" "MDCRC/1173/DBI-989" "00469257" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469258" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00472261" "" "" "" "1" "" "04653" "Verebi et al. (submitted)" "" "M" "" "France" "" "0" "" "" "" "" "00473161" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam104061Pat309" "00473185" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam106802Pat354" "00473213" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam109764Pat402" "00473494" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam302143Pat852" "00473528" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9107876Pat904" "00473848" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam9800372Pat1339" "00473885" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9807845Pat1393" "00473961" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "no" "Iran" "" "0" "" "" "" "Fam9910667Pat1493" "00473966" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9911454Pat1498" "00476568" "" "" "" "1" "" "00006" "{PMID:Beecroft 2020:32153140}" "analysis 2249 neurology patients" "F" "" "(Australia);(New Zealand)" "" "0" "" "" "" "TS212" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 51 "{{individualid}}" "{{diseaseid}}" "00036592" "00198" "00036593" "00198" "00151385" "00198" "00151902" "01387" "00151903" "05113" "00151904" "05113" "00151905" "05157" "00151906" "05384" "00151907" "05113" "00151908" "01387" "00151909" "05113" "00151910" "05384" "00151911" "05384" "00151912" "05113" "00151913" "05113" "00151914" "01387" "00151915" "05384" "00151916" "01387" "00151917" "01387" "00151918" "05113" "00151919" "05113" "00151920" "05157" "00219072" "05113" "00219073" "05113" "00219074" "05113" "00219075" "05113" "00263958" "00199" "00263959" "00199" "00292120" "00198" "00292121" "00198" "00292122" "00198" "00292123" "00198" "00292124" "00198" "00292125" "00198" "00303628" "00198" "00304660" "00198" "00374451" "00198" "00391977" "05324" "00469257" "00198" "00469258" "00198" "00472261" "03781" "00473161" "05113" "00473185" "00244" "00473213" "05113" "00473494" "05113" "00473528" "05113" "00473848" "05384" "00473885" "05113" "00473961" "07235" "00473966" "05121" "00476568" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00199, 00244, 01387, 03781, 05113, 05121, 05157, 05324, 05384, 07235 ## Count = 42 "{{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}}" "0000123779" "00198" "00151385" "01807" "Unknown" "" "Sensory ataxia (HP:0010871); Polyneuropathy (HP:0001271); Pes cavus (HP:0001761)" "" "" "" "" "" "" "" "" "" "" "" "0000124265" "01387" "00151902" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Dejerine-Sottas syndrome" "" "0000124266" "05113" "00151903" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth disease" "" "0000124267" "05113" "00151904" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT4F" "Charcot-Marie-Tooth disease" "" "0000124268" "05157" "00151905" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hereditary motor & sensory neuropathy" "" "0000124269" "05384" "00151906" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuropathy, periaxin-related" "" "0000124270" "05113" "00151907" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth disease" "" "0000124271" "01387" "00151908" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Dejerine-Sottas syndrome" "" "0000124272" "05113" "00151909" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth disease" "" "0000124273" "05384" "00151910" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuropathy, periaxin-related" "" "0000124274" "05384" "00151911" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuropathy, periaxin-related" "" "0000124275" "05113" "00151912" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth disease" "" "0000124276" "05113" "00151913" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth disease" "" "0000124277" "01387" "00151914" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Dejerine-Sottas syndrome" "" "0000124278" "05384" "00151915" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuropathy, periaxin-related" "" "0000124279" "01387" "00151916" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Dejerine-Sottas syndrome" "" "0000124280" "01387" "00151917" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Dejerine-Sottas syndrome" "" "0000124281" "05113" "00151918" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth disease" "" "0000124282" "05113" "00151919" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth disease" "" "0000124283" "05157" "00151920" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hereditary motor & sensory neuropathy" "" "0000156589" "00198" "00036592" "01164" "Unknown" "" "suspected autosomal rezessive HMSN (parents consanguine), neurogenic myatrophy" "" "" "" "" "" "" "" "" "" "hereditary motor and sensory neuropathy?" "" "0000156590" "00198" "00036593" "01164" "Unknown" "" "suspected autosomal rezessive HMSN (parents consanguine), neurogenic myatrophy" "" "" "" "" "" "" "" "" "" "hereditary motor and sensory neuropathy?" "" "0000167629" "05113" "00219072" "00006" "Familial, autosomal recessive" "" "CMT4F, Dejerine-Sottas" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth diseae" "" "0000167630" "05113" "00219073" "00006" "Unknown" "" "CMT4F, Dejerine-Sottas; no family history" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth diseae" "" "0000167631" "05113" "00219074" "00006" "Unknown" "" "CMT4F, Dejerine-Sottas; no family history" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth diseae" "" "0000167632" "05113" "00219075" "00006" "Unknown" "" "CMT4F, Dejerine-Sottas; no family history" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth diseae" "" "0000230692" "00198" "00303628" "00006" "Familial, autosomal recessive" "" "see paper; ..., nonsyndromic intellectual disability/developmental delay" "" "" "" "" "" "" "" "" "" "nonsyndromic ID/DD" "" "0000269661" "00198" "00374451" "00006" "Familial, autosomal recessive" "" "Features suggestive of neuropathy" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000285267" "05324" "00391977" "03501" "Unknown" "3y" "frequent falls (HP:0002359)" "" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000354410" "00198" "00469257" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the musculature" "" "0000354411" "00198" "00469258" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the musculature" "" "0000357070" "03781" "00472261" "04653" "Familial, autosomal recessive" "" "Scoliosis" "" "" "" "" "" "" "" "" "CMT4F" "Congenital myopathy" "" "0000357956" "05113" "00473161" "00006" "Familial, autosomal recessive" "3y" "sporadic case, age 3y , distal muscle weakness, walking imapairment, normal intelligence , neuropathy reported in EMG/NCV." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000357980" "00244" "00473185" "00006" "Familial, autosomal recessive" "4y" "distal muscle weakness, decreased DTR, moderated form of congenital myopathy reported in EMG/NCV, no dystrophy sign." "" "" "" "" "" "" "" "" "" "myopathy" "" "0000358008" "05113" "00473213" "00006" "Unknown" "33y" "sporadic case, onset 14y , distal lower and less proximal muscle weakness, distal lower muscle atrophy, thenar muscle atrophy, pes cavus, chronic demyelinationg sensorimotor polyneuropathy reported in EMG/NCV, elevated CPK." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358289" "05113" "00473494" "00006" "Familial, autosomal recessive" "28y" "Delayed walking (age of 3.5y ); Distal upper/lower limbs weakness; Distal muscle atrophy in hands; Hands deformity; Abnormal gait; EMG-NCV: chronic severe demyelinating sensorimotor polyneuropathy." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358323" "05113" "00473528" "00006" "Familial, autosomal recessive" "42y" "Scoliosis; Hand deformity; Atrophy of interphalangeal muscles; Pes cavus; Hammer toe; Foot drop, bilateral; Muscular fatigue; EMG-NCV with severe chronic demyelinating sensorimotor polyneuropathy" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358643" "05384" "00473848" "00006" "Familial, autosomal recessive" "6y" "Respiratory problem at birth; Delayed walking & neck holding; Difficulty walking, climbing steps, running, rising from seated position & writing; MR, mild, of suspicious; Blond hair; Long forehead; Short philtrum; Micrognathia; Large eyes; Long eyelashes; Arched eyebrows; Prominent nasal bridge; Open mouth; Abnormal teeth; Muscle weakness, legs & arms, proximal & distal; Lordosis; Pes cavus, bilateral; Claw toes, mild; Abnormal gait; EMG-NCV: severe sensorimotor polyneuropathy, mixed demyelinating & axonal type in all limbs." "" "" "" "" "" "" "" "" "" "hereditary neuropathy" "" "0000358680" "05113" "00473885" "00006" "Familial, autosomal recessive" "32y" "onset 15y, Slowly progressive muscle cramps; Atrophy of thenar & hypothenar; Mild claw hands; Upper muscle weakness due to neuropathy; Lower muscle atrophy & weakness, distal, due to neuropathy; Foot drop; Pes cavus; Foot deformity; Abnormal gait, steppage; EMG-NCV: sensory motor axonal neuropathy." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358756" "07235" "00473961" "00006" "Unknown" "2y" "Psychomotor regression & retardation since the age of 10-month; Hypotonia; No speech; No standing; No dysmorphic features; Mild strabismus; Small head size; Brain MRI suggestive of parenchymal volume loss, neurodegenerative disorder and leukodystrophy." "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000358761" "05121" "00473966" "00006" "Familial, autosomal recessive" "6y" "onset 3-month with hypotonia; Delayed walking; Difficulty climbing steps; Abnormal gait, ataxic; Distal muscle weakness; Recurrent respiratory infections; Flat feet; Mild hearing loss; Slightly elevated level of LDH" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000361242" "00198" "00476568" "00006" "Familial, autosomal recessive" "7y" "details not specified; ncorrelation clinical diagnosis with genetic diagnosis" "" "" "" "" "" "" "" "" "" "peripheral nerve disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 55 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000036662" "00036592" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036663" "00036593" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036664" "00036594" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036665" "00036595" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036666" "00036596" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036667" "00036597" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000152240" "00151385" "0" "01807" "01807" "2018-01-15 20:24:28" "" "" "SEQ" "DNA" "" "" "0000152759" "00151902" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152760" "00151903" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152761" "00151904" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152762" "00151905" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152763" "00151906" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152764" "00151907" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152765" "00151908" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152766" "00151909" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152767" "00151910" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152768" "00151911" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152769" "00151912" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152770" "00151913" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152771" "00151914" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152772" "00151915" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152773" "00151916" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152774" "00151917" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152775" "00151918" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152776" "00151919" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152777" "00151920" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000220144" "00219072" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220145" "00219073" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220146" "00219074" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220147" "00219075" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000265068" "00263958" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265069" "00263959" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000293288" "00292120" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293289" "00292121" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293290" "00292122" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293291" "00292123" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293292" "00292124" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293293" "00292125" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304756" "00303628" "1" "00006" "00006" "2020-06-17 11:20:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000305789" "00304660" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375645" "00374451" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000393219" "00391977" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, COL6A1, PRX, PRX, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1" "0000470925" "00469257" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470926" "00469258" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473931" "00472261" "1" "04653" "04653" "2026-01-20 15:08:33" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000474830" "00473161" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474854" "00473185" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474882" "00473213" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475163" "00473494" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475197" "00473528" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475517" "00473848" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475554" "00473885" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475630" "00473961" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475635" "00473966" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000478212" "00476568" "1" "00006" "00006" "2026-04-13 18:16:22" "" "" "SEQ;SEQ-NG" "DNA" "" "336-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{geneid}}" "0000036662" "PRX" "0000036663" "PRX" "0000036664" "PRX" "0000036665" "PRX" "0000036666" "PRX" "0000036667" "PRX" "0000152759" "PRX" "0000152760" "PRX" "0000152761" "PRX" "0000152762" "PRX" "0000152763" "PRX" "0000152764" "PRX" "0000152765" "PRX" "0000152766" "PRX" "0000152767" "PRX" "0000152768" "PRX" "0000152769" "PRX" "0000152770" "PRX" "0000152771" "PRX" "0000152772" "PRX" "0000152773" "PRX" "0000152774" "PRX" "0000152775" "PRX" "0000152776" "PRX" "0000152777" "PRX" "0000220144" "PRX" "0000220145" "PRX" "0000220146" "PRX" "0000220147" "PRX" "0000265068" "PRX" "0000265069" "PRX" "0000304756" "PRX" "0000375645" "PRX" ## 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 = 178 "{{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}}" "0000063787" "1" "50" "19" "40914249" "40914249" "subst" "0" "01164" "PRX_000056" "g.40914249G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.40408342G>A" "" "VUS" "" "0000063788" "1" "50" "19" "40914106" "40914106" "subst" "0" "01164" "PRX_000070" "g.40914106C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.40408199C>T" "" "VUS" "" "0000063789" "1" "10" "19" "40909821" "40909821" "subst" "0" "01164" "PRX_000071" "g.40909821C>T" "" "" "" "" "" "Germline" "" "rs2613842" "0" "" "" "g.40403914C>T" "" "benign" "" "0000063790" "1" "50" "19" "40903528" "40903528" "subst" "0.0126856" "01164" "PRX_000003" "g.40903528G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.40397621G>A" "" "VUS" "" "0000063791" "1" "50" "19" "40900485" "40900485" "subst" "0" "01164" "PRX_000002" "g.40900485G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.40394578G>A" "" "VUS" "" "0000063792" "1" "50" "19" "40899644" "40899644" "subst" "0" "01164" "PRX_000001" "g.40899644C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.40393737C>T" "" "VUS" "" "0000245374" "0" "90" "19" "40902770" "40902770" "del" "0" "01807" "PRX_000031" "g.40902770del" "" "" "" "1491delC" "" "Unknown" "" "" "0" "" "" "g.40396863del" "" "pathogenic" "" "0000247561" "0" "10" "19" "40901604" "40901604" "subst" "0.499768" "02330" "PRX_000052" "g.40901604A>G" "" "" "" "PRX(NM_181882.3):c.2655T>C (p.P885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395697A>G" "" "benign" "" "0000247564" "0" "10" "19" "40901614" "40901614" "subst" "0.499569" "02330" "PRX_000054" "g.40901614A>G" "" "" "" "PRX(NM_181882.3):c.2645T>C (p.V882A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395707A>G" "" "benign" "" "0000247587" "0" "10" "19" "40901614" "40901614" "subst" "0" "02330" "PRX_000055" "g.40901614A>C" "" "" "" "PRX(NM_181882.3):c.2645T>G (p.V882G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395707A>C" "" "benign" "" "0000247616" "0" "30" "19" "40909751" "40909751" "subst" "0" "02330" "PRX_000049" "g.40909751A>C" "" "" "" "PRX(NM_020956.2):c.46T>G (p.L16V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40403844A>C" "" "likely benign" "" "0000247618" "0" "30" "19" "40909747" "40909747" "subst" "0" "02330" "PRX_000048" "g.40909747A>C" "" "" "" "PRX(NM_020956.2):c.50T>G (p.V17G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40403840A>C" "" "likely benign" "" "0000247625" "0" "90" "19" "40902114" "40902114" "subst" "1.21876E-5" "02330" "PRX_000027" "g.40902114A>T" "" "" "" "PRX(NM_181882.3):c.2145T>A (p.C715*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40396207A>T" "" "pathogenic" "" "0000247634" "0" "90" "19" "40909621" "40909621" "subst" "0" "02330" "PRX_000044" "g.40909621A>G" "" "" "" "PRX(NM_020956.2):c.176T>C (p.L59P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40403714A>G" "" "pathogenic" "" "0000247648" "0" "50" "19" "40913838" "40913838" "subst" "4.06693E-6" "02330" "PRX_000051" "g.40913838A>G" "" "" "" "PRX(NM_020956.2):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40407931A>G" "" "VUS" "" "0000248387" "0" "10" "19" "40901604" "40901604" "subst" "0.499768" "02325" "PRX_000052" "g.40901604A>G" "" "" "" "PRX(NM_181882.3):c.2655T>C (p.P885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395697A>G" "" "benign" "" "0000248421" "0" "10" "19" "40901614" "40901614" "subst" "0.499569" "02325" "PRX_000054" "g.40901614A>G" "" "" "" "PRX(NM_181882.3):c.2645T>C (p.V882A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395707A>G" "" "benign" "" "0000294516" "0" "90" "19" "40903157" "40903157" "subst" "0" "02330" "PRX_000036" "g.40903157G>A" "" "" "" "PRX(NM_181882.3):c.1102C>T (p.R368*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397250G>A" "" "pathogenic" "" "0000294517" "0" "10" "19" "40903043" "40903043" "subst" "0.00454516" "02330" "PRX_000035" "g.40903043C>T" "" "" "" "PRX(NM_181882.2):c.1216G>A (p.A406T), PRX(NM_181882.3):c.1216G>A (p.A406T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397136C>T" "" "benign" "" "0000294518" "0" "30" "19" "40903008" "40903008" "subst" "1.62598E-5" "02330" "PRX_000034" "g.40903008C>A" "" "" "" "PRX(NM_181882.3):c.1251G>T (p.L417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397101C>A" "" "likely benign" "" "0000294519" "0" "10" "19" "40902776" "40902776" "subst" "0.0048896" "02330" "PRX_000033" "g.40902776C>G" "" "" "" "PRX(NM_181882.3):c.1483G>C (p.E495Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40396869C>G" "" "benign" "" "0000294520" "0" "10" "19" "40902768" "40902768" "subst" "0" "02330" "PRX_000032" "g.40902768G>C" "" "" "" "PRX(NM_181882.3):c.1491C>G (p.P497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40396861G>C" "" "benign" "" "0000294521" "0" "10" "19" "40902759" "40902759" "subst" "1.62786E-5" "02330" "PRX_000030" "g.40902759T>C" "" "" "" "PRX(NM_181882.2):c.1500A>G (p.S500=), PRX(NM_181882.3):c.1500A>G (p.S500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40396852T>C" "" "benign" "" "0000294522" "0" "70" "19" "40902620" "40902620" "subst" "0" "02330" "PRX_000029" "g.40902620G>A" "" "" "" "PRX(NM_181882.3):c.1639C>T (p.Q547*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40396713G>A" "" "likely pathogenic" "" "0000294523" "0" "30" "19" "40901688" "40901688" "subst" "0" "02330" "PRX_000023" "g.40901688C>T" "" "" "" "PRX(NM_181882.3):c.2571G>A (p.V857=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395781C>T" "" "likely benign" "" "0000294524" "0" "10" "19" "40901484" "40901484" "subst" "0.00119791" "02330" "PRX_000069" "g.40901484G>A" "" "" "" "PRX(NM_181882.3):c.2775C>T (p.V925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395577G>A" "" "benign" "" "0000294525" "0" "10" "19" "40904602" "40904602" "subst" "0.140819" "02330" "PRX_000043" "g.40904602G>A" "" "" "" "PRX(NM_020956.2):c.306C>T (p.T102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40398695G>A" "" "benign" "" "0000294526" "0" "50" "19" "40901073" "40901073" "subst" "0.00102372" "02330" "PRX_000067" "g.40901073C>A" "" "" "" "PRX(NM_181882.3):c.3186G>T (p.K1062N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395166C>A" "" "VUS" "" "0000294527" "0" "90" "19" "40901051" "40901051" "subst" "8.12539E-6" "02330" "PRX_000066" "g.40901051G>A" "" "" "" "PRX(NM_181882.3):c.3208C>T (p.R1070*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395144G>A" "" "pathogenic" "" "0000294528" "0" "10" "19" "40901011" "40901011" "subst" "0.137363" "02330" "PRX_000065" "g.40901011G>C" "" "" "" "PRX(NM_181882.3):c.3248C>G (p.P1083R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395104G>C" "" "benign" "" "0000294529" "0" "10" "19" "40900865" "40900865" "subst" "0.945715" "02330" "PRX_000063" "g.40900865C>T" "" "" "" "PRX(NM_181882.3):c.3394G>A (p.G1132R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40394958C>T" "" "benign" "" "0000294530" "0" "50" "19" "40900763" "40900763" "subst" "0.000992951" "02330" "PRX_000062" "g.40900763G>A" "" "" "" "PRX(NM_181882.2):c.3496C>T (p.P1166S), PRX(NM_181882.3):c.3496C>T (p.P1166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40394856G>A" "" "VUS" "" "0000294531" "0" "50" "19" "40900557" "40900557" "subst" "0.00484815" "02330" "PRX_000060" "g.40900557G>A" "" "" "" "PRX(NM_181882.3):c.3702C>T (p.G1234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40394650G>A" "" "VUS" "" "0000294532" "0" "10" "19" "40900484" "40900484" "subst" "0.000241732" "02330" "PRX_000059" "g.40900484C>T" "" "" "" "PRX(NM_181882.3):c.3775G>A (p.E1259K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40394577C>T" "" "benign" "" "0000294535" "0" "10" "19" "40900200" "40900202" "del" "0" "02330" "PRX_000057" "g.40900200_40900202del" "" "" "" "PRX(NM_181882.3):c.4077_4079delGAG (p.E1361del), PRX(NM_181882.3):c.4077_4079delGGA (p.E1361del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40394293_40394295del" "" "benign" "" "0000294537" "0" "30" "19" "40909753" "40909753" "subst" "0" "02330" "PRX_000050" "g.40909753T>C" "" "" "" "PRX(NM_020956.2):c.44A>G (p.E15G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40403846T>C" "" "likely benign" "" "0000294538" "0" "30" "19" "40909744" "40909744" "subst" "0" "02330" "PRX_000047" "g.40909744T>C" "" "" "" "PRX(NM_020956.2):c.53A>G (p.E18G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40403837T>C" "" "likely benign" "" "0000294539" "0" "90" "19" "40903673" "40903673" "subst" "0" "02330" "PRX_000041" "g.40903673G>A" "" "" "" "PRX(NM_181882.3):c.586C>T (p.R196*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397766G>A" "" "pathogenic" "" "0000294540" "0" "30" "19" "40909732" "40909732" "subst" "0" "02330" "PRX_000046" "g.40909732T>C" "" "" "" "PRX(NM_020956.2):c.65A>G (p.E22G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40403825T>C" "" "likely benign" "" "0000294541" "0" "10" "19" "40903528" "40903528" "subst" "0.0126856" "02330" "PRX_000053" "g.40903528G>A" "" "" "" "PRX(NM_181882.2):c.731C>T (p.A244V), PRX(NM_181882.3):c.731C>T (p.A244V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397621G>A" "" "benign" "" "0000294543" "0" "50" "19" "40903465" "40903465" "subst" "0.000245601" "02330" "PRX_000039" "g.40903465C>A" "" "" "" "PRX(NM_181882.3):c.794G>T (p.G265V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397558C>A" "" "VUS" "" "0000294544" "0" "50" "19" "40903436" "40903436" "subst" "0.000942362" "02330" "PRX_000038" "g.40903436G>T" "" "" "" "PRX(NM_181882.2):c.823C>A (p.L275I), PRX(NM_181882.3):c.823C>A (p.L275I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397529G>T" "" "VUS" "" "0000297407" "0" "10" "19" "40904602" "40904602" "subst" "0.140819" "02325" "PRX_000043" "g.40904602G>A" "" "" "" "PRX(NM_020956.2):c.306C>T (p.T102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40398695G>A" "" "benign" "" "0000297408" "0" "10" "19" "40901011" "40901011" "subst" "0.137363" "02325" "PRX_000065" "g.40901011G>C" "" "" "" "PRX(NM_181882.3):c.3248C>G (p.P1083R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395104G>C" "" "benign" "" "0000297409" "0" "10" "19" "40900865" "40900865" "subst" "0.945715" "02325" "PRX_000063" "g.40900865C>T" "" "" "" "PRX(NM_181882.3):c.3394G>A (p.G1132R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40394958C>T" "" "benign" "" "0000299153" "0" "50" "19" "40901795" "40901795" "subst" "8.94563E-5" "02329" "PRX_000025" "g.40901795C>T" "" "" "" "PRX(NM_181882.3):c.2464G>A (p.E822K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395888C>T" "" "VUS" "" "0000299154" "0" "50" "19" "40903436" "40903436" "subst" "0.000942362" "02329" "PRX_000038" "g.40903436G>T" "" "" "" "PRX(NM_181882.2):c.823C>A (p.L275I), PRX(NM_181882.3):c.823C>A (p.L275I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397529G>T" "" "VUS" "" "0000301246" "0" "30" "19" "40901711" "40901711" "subst" "0.000507763" "02326" "PRX_000024" "g.40901711G>C" "" "" "" "PRX(NM_181882.2):c.2548C>G (p.P850A), PRX(NM_181882.3):c.2548C>G (p.P850A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395804G>C" "" "likely benign" "" "0000301247" "0" "30" "19" "40900886" "40900886" "subst" "0.00175476" "02326" "PRX_000064" "g.40900886C>T" "" "" "" "PRX(NM_181882.2):c.3373G>A (p.G1125S), PRX(NM_181882.3):c.3373G>A (p.G1125S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40394979C>T" "" "likely benign" "" "0000306521" "0" "10" "19" "40909664" "40909664" "subst" "0.00145671" "01943" "PRX_000045" "g.40909664G>C" "" "" "" "PRX(NM_020956.2):c.133C>G (p.R45G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40403757G>C" "" "benign" "" "0000306522" "0" "30" "19" "40901149" "40901149" "subst" "0.000308775" "01943" "PRX_000068" "g.40901149T>C" "" "" "" "PRX(NM_020956.2):c.*3315A>G (p.(=)), PRX(NM_181882.2):c.3110A>G (p.E1037G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395242T>C" "" "likely benign" "" "0000326497" "0" "50" "19" "40895785" "40895785" "subst" "1.64857E-5" "01804" "HIPK4_000002" "g.40895785C>T" "" "" "" "HIPK4(NM_144685.3):c.25G>A (p.(Asp9Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40389878C>T" "" "VUS" "" "0000326499" "0" "50" "19" "40901149" "40901149" "subst" "0.000308775" "01804" "PRX_000068" "g.40901149T>C" "" "" "" "PRX(NM_020956.2):c.*3315A>G (p.(=)), PRX(NM_181882.2):c.3110A>G (p.E1037G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395242T>C" "" "VUS" "" "0000326503" "0" "50" "19" "40903397" "40903397" "subst" "8.61703E-5" "01804" "PRX_000037" "g.40903397C>T" "" "" "" "PRX(NM_020956.2):c.*1067G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397490C>T" "" "VUS" "" "0000340025" "0" "10" "19" "40901604" "40901604" "subst" "0.499768" "02327" "PRX_000052" "g.40901604A>G" "" "" "" "PRX(NM_181882.3):c.2655T>C (p.P885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395697A>G" "" "benign" "" "0000340026" "0" "30" "19" "40902813" "40902813" "subst" "0" "02327" "PRX_000073" "g.40902813T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40396906T>G" "" "likely benign" "" "0000340027" "0" "10" "19" "40904602" "40904602" "subst" "0.140819" "02327" "PRX_000043" "g.40904602G>A" "" "" "" "PRX(NM_020956.2):c.306C>T (p.T102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40398695G>A" "" "benign" "" "0000342734" "0" "90" "19" "40903169" "40903169" "subst" "4.51338E-5" "02327" "PRX_000004" "g.40903169G>A" "" "" "" "PRX(NM_181882.3):c.1090C>T (p.R364*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397262G>A" "" "pathogenic" "" "0000345655" "0" "10" "19" "40900865" "40900865" "subst" "0.945715" "02327" "PRX_000063" "g.40900865C>T" "" "" "" "PRX(NM_181882.3):c.3394G>A (p.G1132R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40394958C>T" "" "benign" "" "0000346828" "0" "10" "19" "40901496" "40901496" "subst" "0.352338" "02327" "PRX_000072" "g.40901496T>C" "" "" "" "PRX(NM_181882.3):c.2763A>G (p.I921M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395589T>C" "" "benign" "" "0000350683" "0" "10" "19" "40901614" "40901614" "subst" "0.499569" "02327" "PRX_000054" "g.40901614A>G" "" "" "" "PRX(NM_181882.3):c.2645T>C (p.V882A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395707A>G" "" "benign" "" "0000351594" "0" "90" "19" "40904662" "40904662" "del" "0" "00006" "PRX_000013" "g.40904662del" "" "{PMID:Takashima 2002:12112076}" "" "c.247delC" "" "Germline" "" "" "0" "" "" "g.40398755del" "" "pathogenic" "" "0000351595" "0" "90" "19" "40903866" "40903875" "dup" "0" "00006" "PRX_000019" "g.40903866_40903875dup" "" "{PMID:Otagiri 2006:16770524}" "" "c.385_394dupATCCAGAGTC" "" "Germline" "" "" "0" "" "" "g.40397959_40397968dup" "" "pathogenic" "" "0000351596" "3" "90" "19" "40903673" "40903673" "subst" "0" "00006" "PRX_000020" "g.40903673G>A" "" "{PMID:Guilbot 2001:11157804}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40397766G>A" "" "pathogenic (recessive)" "" "0000351597" "0" "90" "19" "40903532" "40903532" "del" "0" "00006" "PRX_000021" "g.40903532del" "" "{PMID:Baets 2011:21840889}" "" "c.730delG" "" "Germline" "" "" "0" "" "" "g.40397625del" "" "pathogenic" "" "0000351598" "0" "90" "19" "40903488" "40903489" "dup" "0" "00006" "PRX_000022" "g.40903488_40903489dup" "" "{PMID:Marchesi 2010:21079185}" "" "c.773_774dupCC" "" "Germline" "" "" "0" "" "" "g.40397581_40397582dup" "" "pathogenic" "" "0000351599" "0" "90" "19" "40903169" "40903169" "subst" "4.51338E-5" "00006" "PRX_000004" "g.40903169G>A" "" "{PMID:Nouioua 2011:21741241}" "" "" "" "Germline" "" "" "0" "" "" "g.40397262G>A" "" "pathogenic" "" "0000351600" "0" "90" "19" "40903157" "40903157" "subst" "0" "00006" "PRX_000005" "g.40903157G>A" "" "{PMID:Boerkoel 2001:11133365}" "" "" "" "Germline" "" "" "0" "" "" "g.40397250G>A" "" "pathogenic" "" "0000351601" "0" "90" "19" "40903062" "40903065" "del" "0" "00006" "PRX_000006" "g.40903062_40903065del" "" "{PMID:Kabzinska 2006:16534116}" "" "c.1194_1197delTTCC" "" "Germline" "" "" "0" "" "" "g.40397155_40397158del" "" "pathogenic" "" "0000351602" "0" "90" "19" "40902620" "40902620" "subst" "0" "00006" "PRX_000007" "g.40902620G>A" "" "{PMID:Marchesi 2010:21079185}" "" "" "" "Germline" "" "" "0" "" "" "g.40396713G>A" "" "pathogenic" "" "0000351603" "0" "90" "19" "40902215" "40902215" "subst" "0" "00006" "PRX_000008" "g.40902215C>A" "" "{PMID:Marchesi 2010:21079185}" "" "" "" "Germline" "" "" "0" "" "" "g.40396308C>A" "" "pathogenic" "" "0000351604" "0" "90" "19" "40902162" "40902162" "del" "0" "00006" "PRX_000009" "g.40902162del" "" "{PMID:Auer-Grumbach 2008:18504680}" "" "c.2098delG" "" "Germline" "" "" "0" "" "" "g.40396255del" "" "pathogenic" "" "0000351605" "0" "90" "19" "40902114" "40902114" "subst" "1.21876E-5" "00006" "PRX_000010" "g.40902114A>T" "" "{PMID:Takashima 2002:12112076}" "" "" "" "Germline" "" "" "0" "" "" "g.40396207A>T" "" "pathogenic" "" "0000351606" "0" "90" "19" "40901971" "40901971" "del" "0" "00006" "PRX_000011" "g.40901971del" "" "{PMID:Boerkoel 2001:11133365}" "" "c.2289delT" "" "Germline" "" "" "0" "" "" "g.40396064del" "" "pathogenic" "" "0000351607" "0" "90" "19" "40901840" "40901840" "del" "0" "00006" "PRX_000012" "g.40901840del" "" "{PMID:Marchesi 2010:21079185}" "" "c.2421delC" "" "Germline" "" "" "0" "" "" "g.40395933del" "" "pathogenic" "" "0000351608" "0" "90" "19" "40901473" "40901473" "del" "0" "00006" "PRX_000014" "g.40901473del" "" "{PMID:Boerkoel 2001:11133365}" "" "c.2787delC" "" "Germline" "" "" "0" "" "" "g.40395566del" "" "pathogenic" "" "0000351609" "0" "90" "19" "40901402" "40901402" "subst" "3.2505E-5" "00006" "PRX_000015" "g.40901402G>A" "" "{PMID:Boerkoel 2001:11133365}" "" "" "" "Germline" "" "" "0" "" "" "g.40395495G>A" "" "pathogenic" "" "0000351610" "0" "90" "19" "40901350" "40901350" "subst" "2.43815E-5" "00006" "PRX_000016" "g.40901350C>T" "" "{PMID:Kabzinska 2009:19837996}" "" "" "" "Germline" "" "" "0" "" "" "g.40395443C>T" "" "pathogenic" "" "0000351611" "0" "90" "19" "40901051" "40901051" "subst" "8.12539E-6" "00006" "PRX_000017" "g.40901051G>A" "" "{PMID:Kijima 2004:15197604}" "" "" "" "Germline" "" "" "0" "" "" "g.40395144G>A" "" "pathogenic" "" "0000351612" "0" "90" "19" "40900486" "40900487" "delins" "0" "00006" "PRX_000018" "g.40900486_40900487delinsT" "" "{PMID:Baets 2011:21840889}" "" "c.3772_3773delGGinsA" "" "Germline" "" "" "0" "" "" "g.40394579_40394580delinsT" "" "pathogenic" "" "0000455051" "3" "70" "19" "40903248" "40903248" "del" "0" "00006" "PRX_000076" "g.40903248del" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "1012delG" "ACMG pvs1, pm2" "Germline" "yes" "" "0" "" "" "g.40397341del" "" "likely pathogenic" "ACMG" "0000455052" "3" "70" "19" "40902869" "40902869" "subst" "4.06994E-6" "00006" "PRX_000077" "g.40902869G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG pvs1, pm2" "Germline" "" "" "0" "" "" "g.40396962G>A" "" "likely pathogenic" "ACMG" "0000455053" "2" "90" "19" "40901657" "40901657" "del" "0" "00006" "PRX_000079" "g.40901657del" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "2602delC" "ACMG pvs1, pm2" "Germline" "yes" "" "0" "" "" "g.40395750del" "" "likely pathogenic" "ACMG" "0000455054" "1" "90" "19" "40903346" "40903346" "dup" "0" "00006" "PRX_000078" "g.40903346dup" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "913dupA" "ACMG pvs1, pm2" "Germline" "yes" "" "0" "" "" "g.40397439dup" "" "likely pathogenic" "ACMG" "0000455055" "1" "90" "19" "45601452" "45601610" "del" "0" "00006" "PRX_000075" "g.(45596564_45601452)_(45601610_45605652)del" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG pvs1, pm2" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000455056" "2" "90" "19" "40901139" "40901139" "del" "4.06253E-6" "00006" "PRX_000080" "g.40901139del" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "3120delA" "ACMG pvs1, pm2" "Germline" "yes" "" "0" "" "" "g.40395232del" "" "likely pathogenic" "ACMG" "0000567371" "0" "30" "19" "40900197" "40900202" "del" "0" "02330" "HIPK4_000003" "g.40900197_40900202del" "" "" "" "PRX(NM_181882.3):c.4074_4079delGGAGGA (p.E1360_E1361del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40394290_40394295del" "" "likely benign" "" "0000567372" "0" "10" "19" "40900200" "40900202" "del" "0" "02325" "PRX_000057" "g.40900200_40900202del" "" "" "" "PRX(NM_181882.3):c.4077_4079delGAG (p.E1361del), PRX(NM_181882.3):c.4077_4079delGGA (p.E1361del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40394293_40394295del" "" "benign" "" "0000567373" "0" "10" "19" "40900215" "40900215" "subst" "0.00142914" "02330" "HIPK4_000004" "g.40900215C>G" "" "" "" "PRX(NM_181882.3):c.4044G>C (p.G1348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40394308C>G" "" "benign" "" "0000567374" "0" "10" "19" "40901041" "40901041" "subst" "0.00245401" "02330" "HIPK4_000005" "g.40901041T>C" "" "" "" "PRX(NM_181882.3):c.3218A>G (p.E1073G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395134T>C" "" "benign" "" "0000567375" "0" "50" "19" "40901339" "40901339" "subst" "4.06478E-6" "02330" "PRX_000081" "g.40901339C>T" "" "" "" "PRX(NM_181882.3):c.2920G>A (p.E974K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395432C>T" "" "VUS" "" "0000567376" "0" "90" "19" "40901402" "40901402" "subst" "3.2505E-5" "02330" "PRX_000015" "g.40901402G>A" "" "" "" "PRX(NM_181882.3):c.2857C>T (p.R953*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395495G>A" "" "pathogenic" "" "0000567377" "0" "10" "19" "40901496" "40901496" "subst" "0.352338" "02330" "PRX_000072" "g.40901496T>C" "" "" "" "PRX(NM_181882.3):c.2763A>G (p.I921M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395589T>C" "" "benign" "" "0000567378" "0" "10" "19" "40901496" "40901496" "subst" "0.352338" "02325" "PRX_000072" "g.40901496T>C" "" "" "" "PRX(NM_181882.3):c.2763A>G (p.I921M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395589T>C" "" "benign" "" "0000567379" "0" "30" "19" "40901528" "40901528" "subst" "9.74683E-5" "01943" "PRX_000082" "g.40901528C>T" "" "" "" "PRX(NM_181882.2):c.2731G>A (p.V911M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395621C>T" "" "likely benign" "" "0000567380" "0" "10" "19" "40901532" "40901532" "subst" "0.00774898" "02330" "PRX_000083" "g.40901532G>A" "" "" "" "PRX(NM_181882.3):c.2727C>T (p.P909=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395625G>A" "" "benign" "" "0000567381" "0" "10" "19" "40901790" "40901790" "subst" "0.00156979" "02330" "PRX_000084" "g.40901790C>T" "" "" "" "PRX(NM_181882.3):c.2469G>A (p.A823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395883C>T" "" "benign" "" "0000567382" "0" "50" "19" "40901839" "40901839" "subst" "0" "01943" "PRX_000085" "g.40901839G>C" "" "" "" "PRX(NM_181882.2):c.2420C>G (p.P807R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395932G>C" "" "VUS" "" "0000567383" "0" "50" "19" "40901977" "40901977" "subst" "2.03363E-5" "02330" "PRX_000086" "g.40901977G>A" "" "" "" "PRX(NM_181882.3):c.2282C>T (p.P761L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40396070G>A" "" "VUS" "" "0000567384" "0" "30" "19" "40902005" "40902005" "subst" "0.00137619" "02330" "PRX_000026" "g.40902005C>T" "" "" "" "PRX(NM_181882.2):c.2254G>A (p.E752K), PRX(NM_181882.3):c.2254G>A (p.E752K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40396098C>T" "" "likely benign" "" "0000567385" "0" "10" "19" "40902242" "40902242" "subst" "0.00768294" "02330" "PRX_000087" "g.40902242T>C" "" "" "" "PRX(NM_181882.3):c.2017A>G (p.M673V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40396335T>C" "" "benign" "" "0000567386" "0" "30" "19" "40902423" "40902423" "subst" "0.000455944" "02330" "PRX_000088" "g.40902423G>A" "" "" "" "PRX(NM_181882.3):c.1836C>T (p.A612=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40396516G>A" "" "likely benign" "" "0000567387" "0" "10" "19" "40902978" "40902978" "subst" "0.00142011" "02330" "PRX_000089" "g.40902978G>A" "" "" "" "PRX(NM_181882.3):c.1281C>T (p.I427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40397071G>A" "" "benign" "" "0000567388" "0" "30" "19" "40903146" "40903146" "subst" "2.44822E-5" "02330" "PRX_000090" "g.40903146T>C" "" "" "" "PRX(NM_181882.3):c.1113A>G (p.E371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40397239T>C" "" "likely benign" "" "0000567389" "0" "10" "19" "40903208" "40903208" "subst" "0.00493873" "02330" "PRX_000091" "g.40903208G>A" "" "" "" "PRX(NM_181882.3):c.1051C>T (p.P351S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40397301G>A" "" "benign" "" "0000567390" "0" "50" "19" "40903448" "40903448" "subst" "0" "02330" "PRX_000092" "g.40903448G>A" "" "" "" "PRX(NM_181882.3):c.811C>T (p.P271S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40397541G>A" "" "VUS" "" "0000567392" "0" "50" "19" "40903646" "40903646" "subst" "0" "02330" "PRX_000093" "g.40903646C>G" "" "" "" "PRX(NM_181882.3):c.613G>C (p.A205P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40397739C>G" "" "VUS" "" "0000567393" "0" "10" "19" "40903788" "40903788" "subst" "0.0337189" "02330" "PRX_000094" "g.40903788C>T" "" "" "" "PRX(NM_181882.3):c.471G>A (p.E157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40397881C>T" "" "benign" "" "0000567395" "0" "30" "19" "40904446" "40904446" "subst" "0" "02330" "PRX_000096" "g.40904446G>A" "" "" "" "PRX(NM_020956.2):c.*18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40398539G>A" "" "likely benign" "" "0000567398" "0" "50" "19" "40913859" "40913859" "subst" "9.7634E-5" "02330" "PRX_000098" "g.40913859T>G" "" "" "" "PRX(NM_020956.2):c.-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40407952T>G" "" "VUS" "" "0000567399" "0" "10" "19" "40916265" "40916265" "subst" "0" "02330" "PRX_000099" "g.40916265G>A" "" "" "" "PRX(NM_020956.2):c.-242-1975C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40410358G>A" "" "benign" "" "0000595651" "0" "50" "19" "40903670" "40903670" "subst" "0" "01364" "PRX_000112" "g.40903670C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000595652" "0" "50" "19" "40900294" "40900295" "ins" "0" "01364" "PRX_000100" "g.40900294_40900295insG" "" "" "" "g.40900295insG" "" "Germline" "" "" "0" "" "" "g.40394387_40394388insG" "" "VUS" "" "0000617619" "0" "30" "19" "40900886" "40900886" "subst" "0.00175476" "02330" "PRX_000064" "g.40900886C>T" "" "" "" "PRX(NM_181882.2):c.3373G>A (p.G1125S), PRX(NM_181882.3):c.3373G>A (p.G1125S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40394979C>T" "" "likely benign" "" "0000617620" "0" "30" "19" "40902685" "40902685" "subst" "0.000533496" "02327" "PRX_000102" "g.40902685A>G" "" "" "" "PRX(NM_181882.3):c.1574T>C (p.V525A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40396778A>G" "" "likely benign" "" "0000624007" "0" "30" "19" "40902685" "40902685" "subst" "0.000533496" "02330" "PRX_000102" "g.40902685A>G" "" "" "" "PRX(NM_181882.3):c.1574T>C (p.V525A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40396778A>G" "" "likely benign" "" "0000624008" "0" "50" "19" "40903540" "40903540" "subst" "0.000318759" "02330" "PRX_000103" "g.40903540C>T" "" "" "" "PRX(NM_181882.3):c.719G>A (p.R240Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40397633C>T" "" "VUS" "" "0000624009" "0" "30" "19" "40909664" "40909664" "subst" "0.00145671" "02330" "PRX_000045" "g.40909664G>C" "" "" "" "PRX(NM_020956.2):c.133C>G (p.R45G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40403757G>C" "" "likely benign" "" "0000649977" "1" "30" "19" "40900557" "40900557" "subst" "0.00484815" "03575" "PRX_000060" "g.40900557G>A" "29/2778 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "29 heterozygous; {DB:CLININrs139950446}" "Germline" "" "rs139950446" "0" "" "" "g.40394650G>A" "" "likely benign" "" "0000649978" "1" "90" "19" "40901051" "40901051" "subst" "8.12539E-6" "03575" "PRX_000017" "g.40901051G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs104894708}" "Germline" "" "rs104894708" "0" "" "" "g.40395144G>A" "" "pathogenic" "" "0000649979" "1" "50" "19" "40902005" "40902005" "subst" "0.00137619" "03575" "PRX_000026" "g.40902005C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs147587689}" "Germline" "" "rs147587689" "0" "" "" "g.40396098C>T" "" "VUS" "" "0000649980" "1" "30" "19" "40903208" "40903208" "subst" "0.00493873" "03575" "PRX_000091" "g.40903208G>A" "2/2775 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs73933276}" "Germline" "" "rs73933276" "0" "" "" "g.40397301G>A" "" "likely benign" "" "0000649981" "1" "50" "19" "40903367" "40903367" "subst" "0.000618812" "03575" "PRX_000104" "g.40903367G>A" "2/2779 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs185112635}" "Germline" "" "rs185112635" "0" "" "" "g.40397460G>A" "" "VUS" "" "0000649982" "1" "50" "19" "40903814" "40903814" "subst" "0.000534393" "03575" "PRX_000105" "g.40903814C>T" "1/2780 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs142436391}" "Germline" "" "rs142436391" "0" "" "" "g.40397907C>T" "" "VUS" "" "0000658570" "0" "50" "19" "40901711" "40901711" "subst" "0.000507763" "02330" "PRX_000024" "g.40901711G>C" "" "" "" "PRX(NM_181882.2):c.2548C>G (p.P850A), PRX(NM_181882.3):c.2548C>G (p.P850A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395804G>C" "" "VUS" "" "0000668260" "3" "90" "19" "40901160" "40901160" "del" "0" "00006" "PRX_000106" "g.40901160del" "" "{PMID:Makrythanasis 2014:25044680}" "" "" "variants only partially accounts for phenotype" "Germline" "" "" "0" "" "" "g.40395253del" "" "pathogenic (recessive)" "" "0000669477" "3" "30" "19" "40900557" "40900557" "subst" "0.00484815" "03575" "PRX_000060" "g.40900557G>A" "2/2778 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs139950446}" "Germline" "" "rs139950446" "0" "" "" "g.40394650G>A" "" "likely benign" "" "0000681413" "0" "50" "19" "40900013" "40900015" "dup" "0" "02330" "HIPK4_000006" "g.40900013_40900015dup" "" "" "" "PRX(NM_181882.3):c.4244_4246dupTGT (p.V1415_S1416insL)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727367" "0" "30" "19" "40900763" "40900763" "subst" "0.000992951" "02326" "PRX_000062" "g.40900763G>A" "" "" "" "PRX(NM_181882.2):c.3496C>T (p.P1166S), PRX(NM_181882.3):c.3496C>T (p.P1166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727368" "0" "30" "19" "40900820" "40900820" "subst" "8.24056E-6" "01943" "HIPK4_000007" "g.40900820G>A" "" "" "" "PRX(NM_181882.2):c.3439C>T (p.P1147S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727369" "0" "30" "19" "40900886" "40900886" "subst" "0.00175476" "01943" "PRX_000064" "g.40900886C>T" "" "" "" "PRX(NM_181882.2):c.3373G>A (p.G1125S), PRX(NM_181882.3):c.3373G>A (p.G1125S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727370" "0" "50" "19" "40902500" "40902500" "subst" "0" "01943" "PRX_000107" "g.40902500G>A" "" "" "" "PRX(NM_181882.2):c.1759C>T (p.L587F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727371" "0" "50" "19" "40903760" "40903760" "subst" "0.000143977" "02330" "PRX_000108" "g.40903760G>A" "" "" "" "PRX(NM_181882.3):c.499C>T (p.R167C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000786996" "3" "70" "19" "40904677" "40904677" "subst" "0" "00006" "PRX_000109" "g.40904677G>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.40398770G>T" "" "likely pathogenic" "" "0000808870" "0" "50" "19" "40900141" "40900141" "subst" "4.98969E-5" "02330" "HIPK4_000008" "g.40900141C>T" "" "" "" "PRX(NM_181882.3):c.4118G>A (p.R1373Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808871" "0" "30" "19" "40902153" "40902153" "subst" "7.71668E-5" "02330" "PRX_000110" "g.40902153G>A" "" "" "" "PRX(NM_181882.3):c.2106C>T (p.P702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000823961" "0" "50" "19" "40901484" "40901484" "subst" "0.00119791" "03501" "PRX_000069" "g.40901484G>A" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.40395577G>A" "" "VUS" "" "0000823997" "0" "50" "19" "40899903" "40899903" "subst" "0" "03501" "PRX_000111" "g.40899903C>A" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.40393996C>A" "" "VUS" "" "0000855588" "0" "50" "19" "40901639" "40901639" "subst" "2.44726E-5" "02330" "PRX_000113" "g.40901639C>T" "" "" "" "PRX(NM_181882.3):c.2620G>A (p.A874T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866130" "0" "10" "19" "40903043" "40903043" "subst" "0.00454516" "02326" "PRX_000035" "g.40903043C>T" "" "" "" "PRX(NM_181882.2):c.1216G>A (p.A406T), PRX(NM_181882.3):c.1216G>A (p.A406T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866131" "0" "10" "19" "40903528" "40903528" "subst" "0.0126856" "02326" "PRX_000003" "g.40903528G>A" "" "" "" "PRX(NM_181882.2):c.731C>T (p.A244V), PRX(NM_181882.3):c.731C>T (p.A244V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894988" "0" "50" "19" "40900130" "40900130" "subst" "0.000113142" "02330" "HIPK4_000009" "g.40900130G>A" "" "" "" "PRX(NM_181882.3):c.4129C>T (p.R1377C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894989" "0" "30" "19" "40901010" "40901010" "subst" "8.13339E-5" "02330" "HIPK4_000010" "g.40901010C>T" "" "" "" "PRX(NM_181882.3):c.3249G>A (p.P1083=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894990" "0" "50" "19" "40901933" "40901933" "subst" "0" "02330" "PRX_000114" "g.40901933G>C" "" "" "" "PRX(NM_181882.3):c.2326C>G (p.L776V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894991" "0" "50" "19" "40902062" "40902062" "subst" "0" "02330" "PRX_000115" "g.40902062G>A" "" "" "" "PRX(NM_181882.3):c.2197C>T (p.P733S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894992" "0" "50" "19" "40902721" "40902721" "subst" "8.18096E-6" "02330" "PRX_000116" "g.40902721G>A" "" "" "" "PRX(NM_181882.3):c.1538C>T (p.P513L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894993" "0" "30" "19" "40902759" "40902759" "subst" "1.62786E-5" "02326" "PRX_000030" "g.40902759T>C" "" "" "" "PRX(NM_181882.2):c.1500A>G (p.S500=), PRX(NM_181882.3):c.1500A>G (p.S500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894994" "0" "30" "19" "40903719" "40903719" "subst" "0.000460742" "02326" "PRX_000117" "g.40903719C>T" "" "" "" "PRX(NM_181882.2):c.540G>A (p.P180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915226" "0" "30" "19" "40900886" "40900886" "subst" "0.00175476" "02325" "PRX_000064" "g.40900886C>T" "" "" "" "PRX(NM_181882.2):c.3373G>A (p.G1125S), PRX(NM_181882.3):c.3373G>A (p.G1125S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915227" "0" "50" "19" "40901711" "40901711" "subst" "0.000507763" "02325" "PRX_000024" "g.40901711G>C" "" "" "" "PRX(NM_181882.2):c.2548C>G (p.P850A), PRX(NM_181882.3):c.2548C>G (p.P850A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915228" "0" "50" "19" "40902505" "40902505" "subst" "0" "02330" "PRX_000118" "g.40902505A>G" "" "" "" "PRX(NM_181882.3):c.1754T>C (p.M585T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915229" "0" "30" "19" "40902608" "40902608" "subst" "0.000908239" "02330" "PRX_000119" "g.40902608C>T" "" "" "" "PRX(NM_181882.3):c.1651G>A (p.V551M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926888" "0" "30" "19" "40900428" "40900428" "subst" "8.2149E-5" "02326" "PRX_000058" "g.40900428G>C" "" "" "" "PRX(NM_181882.2):c.3831C>G (p.P1277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926889" "0" "30" "19" "40902005" "40902005" "subst" "0.00137619" "02326" "PRX_000026" "g.40902005C>T" "" "" "" "PRX(NM_181882.2):c.2254G>A (p.E752K), PRX(NM_181882.3):c.2254G>A (p.E752K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926890" "0" "30" "19" "40903512" "40903512" "subst" "0" "02326" "PRX_000040" "g.40903512G>A" "" "" "" "PRX(NM_181882.2):c.747C>T (p.P249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926891" "0" "30" "19" "40903527" "40903527" "subst" "3.77302E-5" "02326" "PRX_000120" "g.40903527C>T" "" "" "" "PRX(NM_181882.2):c.732G>A (p.A244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951295" "0" "50" "19" "40909637" "40909637" "subst" "0" "02330" "PRX_000121" "g.40909637C>T" "" "" "" "PRX(NM_020956.2):c.160G>A (p.A54T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969758" "0" "30" "19" "40900953" "40900953" "subst" "6.95046E-5" "02330" "HIPK4_000011" "g.40900953G>A" "" "" "" "PRX(NM_181882.3):c.3306C>T (p.V1102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969759" "0" "10" "19" "40902295" "40902295" "subst" "0.00196172" "02330" "PRX_000122" "g.40902295G>A" "" "" "" "PRX(NM_181882.3):c.1964C>T (p.P655L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969760" "0" "10" "19" "40902634" "40902634" "subst" "0.00102748" "02330" "PRX_000123" "g.40902634C>T" "" "" "" "PRX(NM_181882.3):c.1625G>A (p.R542Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969761" "0" "30" "19" "40903436" "40903436" "subst" "0.000942362" "02327" "PRX_000038" "g.40903436G>T" "" "" "" "PRX(NM_181882.2):c.823C>A (p.L275I), PRX(NM_181882.3):c.823C>A (p.L275I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969763" "0" "30" "19" "40904454" "40904454" "subst" "5.51418E-5" "02330" "PRX_000124" "g.40904454G>C" "" "" "" "PRX(NM_020956.2):c.*10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983466" "0" "90" "19" "40903169" "40903169" "subst" "4.51338E-5" "02330" "PRX_000004" "g.40903169G>A" "" "" "" "PRX(NM_181882.3):c.1090C>T (p.R364*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001027224" "0" "30" "19" "40903436" "40903436" "subst" "0.000942362" "02326" "PRX_000038" "g.40903436G>T" "" "" "" "PRX(NM_181882.2):c.823C>A (p.L275I), PRX(NM_181882.3):c.823C>A (p.L275I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056669" "0" "70" "19" "40902115" "40902116" "del" "0" "01804" "PRX_000125" "g.40902115_40902116del" "" "" "" "PRX(NM_181882.3):c.2145_2146del (p.(Cys715*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001059047" "0" "90" "19" "40901473" "40901473" "del" "0" "00006" "PRX_000014" "g.40901473del" "" "{PMID:Retterer 2016:26633542}" "" "2787delC" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.40395566del" "" "pathogenic" "" "0001059048" "0" "90" "19" "40900648" "40900648" "del" "8.15641E-6" "00006" "PRX_000126" "g.40900648del" "" "{PMID:Retterer 2016:26633542}" "" "3611delT" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.40394741del" "" "pathogenic" "" "0001062904" "3" "70" "19" "40904676" "40904676" "subst" "0" "04653" "PRX_000127" "g.40904676C>A" "" "Verebi et al. (submitted)" "" "" "" "Germline" "" "" "0" "" "" "g.40398769C>A" "" "pathogenic" "ACMG" "0001069228" "3" "90" "19" "40903169" "40903169" "subst" "4.51338E-5" "00006" "PRX_000004" "g.40903169G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.40397262G>A" "SCV001167082" "pathogenic" "ACMG" "0001069252" "3" "90" "19" "40903169" "40903169" "subst" "4.51338E-5" "00006" "PRX_000004" "g.40903169G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2, PP5" "Germline" "" "" "0" "" "" "g.40397262G>A" "SCV001167082" "pathogenic" "ACMG" "0001069280" "3" "50" "19" "40902224" "40902224" "subst" "1.62433E-5" "00006" "PRX_000128" "g.40902224G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1Strong, PM2sup" "Germline" "" "" "0" "" "" "g.40396317G>A" "SCV006075166.1" "VUS" "ACMG" "0001069559" "3" "70" "19" "40903169" "40903169" "subst" "4.51338E-5" "00006" "PRX_000004" "g.40903169G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1_str, PM2_mod, PM3_mod" "Germline" "" "" "0" "" "" "g.40397262G>A" "SCV001167082.2" "likely pathogenic" "ACMG" "0001069593" "3" "90" "19" "40903169" "40903169" "subst" "4.51338E-5" "00006" "PRX_000004" "g.40903169G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.40397262G>A" "SCV001167082" "pathogenic" "ACMG" "0001069911" "3" "70" "19" "40903157" "40903157" "subst" "0" "00006" "PRX_000005" "g.40903157G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.40397250G>A" "SCV001755649" "likely pathogenic" "ACMG" "0001069947" "3" "90" "19" "40903169" "40903169" "subst" "4.51338E-5" "00006" "PRX_000004" "g.40903169G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.40397262G>A" "SCV001167082" "pathogenic" "ACMG" "0001070023" "0" "50" "19" "40902492" "40902492" "subst" "4.07664E-6" "00006" "PRX_000129" "g.40902492C>G" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.40396585C>G" "SCV006075167.1" "VUS" "ACMG" "0001070028" "3" "70" "19" "40903169" "40903169" "subst" "4.51338E-5" "00006" "PRX_000004" "g.40903169G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.40397262G>A" "SCV001167082" "likely pathogenic" "ACMG" "0001073599" "3" "90" "19" "40903169" "40903169" "subst" "4.51338E-5" "00006" "PRX_000004" "g.40903169G>A" "" "{PMID:Beecroft 2020:32153140}" "" "" "" "Germline" "" "" "0" "" "" "g.40397262G>A" "" "pathogenic (recessive)" "" ## 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 PRX ## Count = 307 "{{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}}" "0000063787" "00023867" "50" "-201" "0" "-201" "0" "c.-201C>T" "r.(=)" "p.(=)" "" "0000063788" "00023867" "50" "-141" "0" "-141" "0" "c.-141G>A" "r.(=)" "p.(=)" "" "0000063789" "00023867" "10" "28" "-52" "28" "-52" "c.28-52G>A" "r.(=)" "p.(=)" "" "0000063790" "00023867" "50" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Ala244Val)" "" "0000063791" "00023867" "50" "3774" "0" "3774" "0" "c.3774C>T" "r.(=)" "p.(=)" "" "0000063792" "00023867" "50" "4615" "0" "4615" "0" "c.*229G>A" "r.(=)" "p.(=)" "" "0000245374" "00023867" "90" "1491" "0" "1491" "0" "c.1491del" "r.(?)" "p.(Val499Cysfs*4)" "" "0000247561" "00023867" "10" "2655" "0" "2655" "0" "c.2655T>C" "r.(?)" "p.(Pro885=)" "" "0000247561" "00016986" "10" "3304" "0" "3304" "0" "c.*2860T>C" "r.(=)" "p.(=)" "" "0000247564" "00023867" "10" "2645" "0" "2645" "0" "c.2645T>C" "r.(?)" "p.(Val882Ala)" "" "0000247564" "00016986" "10" "3294" "0" "3294" "0" "c.*2850T>C" "r.(=)" "p.(=)" "" "0000247587" "00023867" "10" "2645" "0" "2645" "0" "c.2645T>G" "r.(?)" "p.(Val882Gly)" "" "0000247587" "00016986" "10" "3294" "0" "3294" "0" "c.*2850T>G" "r.(=)" "p.(=)" "" "0000247616" "00023867" "30" "46" "0" "46" "0" "c.46T>G" "r.(?)" "p.(Leu16Val)" "" "0000247616" "00016986" "30" "46" "0" "46" "0" "c.46T>G" "r.(?)" "p.(Leu16Val)" "" "0000247618" "00023867" "30" "50" "0" "50" "0" "c.50T>G" "r.(?)" "p.(Val17Gly)" "" "0000247618" "00016986" "30" "50" "0" "50" "0" "c.50T>G" "r.(?)" "p.(Val17Gly)" "" "0000247625" "00023867" "90" "2145" "0" "2145" "0" "c.2145T>A" "r.(?)" "p.(Cys715Ter)" "" "0000247625" "00016986" "90" "2794" "0" "2794" "0" "c.*2350T>A" "r.(=)" "p.(=)" "" "0000247634" "00023867" "90" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Leu59Pro)" "" "0000247634" "00016986" "90" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Leu59Pro)" "" "0000247648" "00023867" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000247648" "00016986" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000248387" "00023867" "10" "2655" "0" "2655" "0" "c.2655T>C" "r.(?)" "p.(Pro885=)" "" "0000248387" "00016986" "10" "3304" "0" "3304" "0" "c.*2860T>C" "r.(=)" "p.(=)" "" "0000248421" "00023867" "10" "2645" "0" "2645" "0" "c.2645T>C" "r.(?)" "p.(Val882Ala)" "" "0000248421" "00016986" "10" "3294" "0" "3294" "0" "c.*2850T>C" "r.(=)" "p.(=)" "" "0000294516" "00023867" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368Ter)" "" "0000294516" "00016986" "90" "1751" "0" "1751" "0" "c.*1307C>T" "r.(=)" "p.(=)" "" "0000294517" "00023867" "10" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Ala406Thr)" "" "0000294517" "00016986" "10" "1865" "0" "1865" "0" "c.*1421G>A" "r.(=)" "p.(=)" "" "0000294518" "00023867" "30" "1251" "0" "1251" "0" "c.1251G>T" "r.(?)" "p.(Leu417=)" "" "0000294518" "00016986" "30" "1900" "0" "1900" "0" "c.*1456G>T" "r.(=)" "p.(=)" "" "0000294519" "00023867" "10" "1483" "0" "1483" "0" "c.1483G>C" "r.(?)" "p.(Glu495Gln)" "" "0000294519" "00016986" "10" "2132" "0" "2132" "0" "c.*1688G>C" "r.(=)" "p.(=)" "" "0000294520" "00023867" "10" "1491" "0" "1491" "0" "c.1491C>G" "r.(?)" "p.(Pro497=)" "" "0000294520" "00016986" "10" "2140" "0" "2140" "0" "c.*1696C>G" "r.(=)" "p.(=)" "" "0000294521" "00023867" "10" "1500" "0" "1500" "0" "c.1500A>G" "r.(?)" "p.(Ser500=)" "" "0000294521" "00016986" "10" "2149" "0" "2149" "0" "c.*1705A>G" "r.(=)" "p.(=)" "" "0000294522" "00023867" "70" "1639" "0" "1639" "0" "c.1639C>T" "r.(?)" "p.(Gln547Ter)" "" "0000294522" "00016986" "70" "2288" "0" "2288" "0" "c.*1844C>T" "r.(=)" "p.(=)" "" "0000294523" "00023867" "30" "2571" "0" "2571" "0" "c.2571G>A" "r.(?)" "p.(Val857=)" "" "0000294523" "00016986" "30" "3220" "0" "3220" "0" "c.*2776G>A" "r.(=)" "p.(=)" "" "0000294524" "00023867" "10" "2775" "0" "2775" "0" "c.2775C>T" "r.(?)" "p.(Val925=)" "" "0000294524" "00016986" "10" "3424" "0" "3424" "0" "c.*2980C>T" "r.(=)" "p.(=)" "" "0000294525" "00023867" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Thr102=)" "" "0000294525" "00016986" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Thr102=)" "" "0000294526" "00023867" "50" "3186" "0" "3186" "0" "c.3186G>T" "r.(?)" "p.(Lys1062Asn)" "" "0000294526" "00016986" "50" "3835" "0" "3835" "0" "c.*3391G>T" "r.(=)" "p.(=)" "" "0000294527" "00023867" "90" "3208" "0" "3208" "0" "c.3208C>T" "r.(?)" "p.(Arg1070Ter)" "" "0000294527" "00016986" "90" "3857" "0" "3857" "0" "c.*3413C>T" "r.(=)" "p.(=)" "" "0000294528" "00023867" "10" "3248" "0" "3248" "0" "c.3248C>G" "r.(?)" "p.(Pro1083Arg)" "" "0000294528" "00016986" "10" "3897" "0" "3897" "0" "c.*3453C>G" "r.(=)" "p.(=)" "" "0000294529" "00023867" "10" "3394" "0" "3394" "0" "c.3394G>A" "r.(?)" "p.(Gly1132Arg)" "" "0000294529" "00016986" "10" "4043" "0" "4043" "0" "c.*3599G>A" "r.(=)" "p.(=)" "" "0000294530" "00023867" "50" "3496" "0" "3496" "0" "c.3496C>T" "r.(?)" "p.(Pro1166Ser)" "" "0000294530" "00016986" "50" "4145" "0" "4145" "0" "c.*3701C>T" "r.(=)" "p.(=)" "" "0000294531" "00023867" "50" "3702" "0" "3702" "0" "c.3702C>T" "r.(?)" "p.(Gly1234=)" "" "0000294531" "00016986" "50" "4351" "0" "4351" "0" "c.*3907C>T" "r.(=)" "p.(=)" "" "0000294532" "00023867" "10" "3775" "0" "3775" "0" "c.3775G>A" "r.(?)" "p.(Glu1259Lys)" "" "0000294532" "00016986" "10" "4424" "0" "4424" "0" "c.*3980G>A" "r.(=)" "p.(=)" "" "0000294535" "00023867" "10" "4077" "0" "4079" "0" "c.4077_4079del" "r.(?)" "p.(Glu1361del)" "" "0000294535" "00016986" "10" "4726" "0" "4728" "0" "c.*4282_*4284del" "r.(=)" "p.(=)" "" "0000294537" "00023867" "30" "44" "0" "44" "0" "c.44A>G" "r.(?)" "p.(Glu15Gly)" "" "0000294537" "00016986" "30" "44" "0" "44" "0" "c.44A>G" "r.(?)" "p.(Glu15Gly)" "" "0000294538" "00023867" "30" "53" "0" "53" "0" "c.53A>G" "r.(?)" "p.(Glu18Gly)" "" "0000294538" "00016986" "30" "53" "0" "53" "0" "c.53A>G" "r.(?)" "p.(Glu18Gly)" "" "0000294539" "00023867" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196Ter)" "" "0000294539" "00016986" "90" "1235" "0" "1235" "0" "c.*791C>T" "r.(=)" "p.(=)" "" "0000294540" "00023867" "30" "65" "0" "65" "0" "c.65A>G" "r.(?)" "p.(Glu22Gly)" "" "0000294540" "00016986" "30" "65" "0" "65" "0" "c.65A>G" "r.(?)" "p.(Glu22Gly)" "" "0000294541" "00023867" "10" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Ala244Val)" "" "0000294541" "00016986" "10" "1380" "0" "1380" "0" "c.*936C>T" "r.(=)" "p.(=)" "" "0000294543" "00023867" "50" "794" "0" "794" "0" "c.794G>T" "r.(?)" "p.(Gly265Val)" "" "0000294543" "00016986" "50" "1443" "0" "1443" "0" "c.*999G>T" "r.(=)" "p.(=)" "" "0000294544" "00023867" "50" "823" "0" "823" "0" "c.823C>A" "r.(?)" "p.(Leu275Ile)" "" "0000294544" "00016986" "50" "1472" "0" "1472" "0" "c.*1028C>A" "r.(=)" "p.(=)" "" "0000297407" "00023867" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Thr102=)" "" "0000297407" "00016986" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Thr102=)" "" "0000297408" "00023867" "10" "3248" "0" "3248" "0" "c.3248C>G" "r.(?)" "p.(Pro1083Arg)" "" "0000297408" "00016986" "10" "3897" "0" "3897" "0" "c.*3453C>G" "r.(=)" "p.(=)" "" "0000297409" "00023867" "10" "3394" "0" "3394" "0" "c.3394G>A" "r.(?)" "p.(Gly1132Arg)" "" "0000297409" "00016986" "10" "4043" "0" "4043" "0" "c.*3599G>A" "r.(=)" "p.(=)" "" "0000299153" "00023867" "50" "2464" "0" "2464" "0" "c.2464G>A" "r.(?)" "p.(Glu822Lys)" "" "0000299153" "00016986" "50" "3113" "0" "3113" "0" "c.*2669G>A" "r.(=)" "p.(=)" "" "0000299154" "00023867" "50" "823" "0" "823" "0" "c.823C>A" "r.(?)" "p.(Leu275Ile)" "" "0000299154" "00016986" "50" "1472" "0" "1472" "0" "c.*1028C>A" "r.(=)" "p.(=)" "" "0000301246" "00023867" "30" "2548" "0" "2548" "0" "c.2548C>G" "r.(?)" "p.(Pro850Ala)" "" "0000301246" "00016986" "30" "3197" "0" "3197" "0" "c.*2753C>G" "r.(=)" "p.(=)" "" "0000301247" "00023867" "30" "3373" "0" "3373" "0" "c.3373G>A" "r.(?)" "p.(Gly1125Ser)" "" "0000301247" "00016986" "30" "4022" "0" "4022" "0" "c.*3578G>A" "r.(=)" "p.(=)" "" "0000306521" "00023867" "10" "133" "0" "133" "0" "c.133C>G" "r.(?)" "p.(Arg45Gly)" "" "0000306521" "00016986" "10" "133" "0" "133" "0" "c.133C>G" "r.(?)" "p.(Arg45Gly)" "" "0000306522" "00023867" "30" "3110" "0" "3110" "0" "c.3110A>G" "r.(?)" "p.(Glu1037Gly)" "" "0000306522" "00016986" "30" "3759" "0" "3759" "0" "c.*3315A>G" "r.(=)" "p.(=)" "" "0000326497" "00023867" "50" "8474" "0" "8474" "0" "c.*4088G>A" "r.(=)" "p.(=)" "" "0000326497" "00016986" "50" "9123" "0" "9123" "0" "c.*8679G>A" "r.(=)" "p.(=)" "" "0000326499" "00023867" "50" "3110" "0" "3110" "0" "c.3110A>G" "r.(?)" "p.(Glu1037Gly)" "" "0000326499" "00016986" "50" "3759" "0" "3759" "0" "c.*3315A>G" "r.(=)" "p.(=)" "" "0000326503" "00023867" "50" "862" "0" "862" "0" "c.862G>A" "r.(?)" "p.(Val288Met)" "" "0000326503" "00016986" "50" "1511" "0" "1511" "0" "c.*1067G>A" "r.(=)" "p.(=)" "" "0000340025" "00023867" "10" "2655" "0" "2655" "0" "c.2655T>C" "r.(?)" "p.(Pro885=)" "" "0000340025" "00016986" "10" "3304" "0" "3304" "0" "c.*2860T>C" "r.(=)" "p.(=)" "" "0000340026" "00023867" "30" "1446" "0" "1446" "0" "c.1446A>C" "r.(?)" "p.(Pro482=)" "" "0000340026" "00016986" "30" "2095" "0" "2095" "0" "c.*1651A>C" "r.(=)" "p.(=)" "" "0000340027" "00023867" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Thr102=)" "" "0000340027" "00016986" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Thr102=)" "" "0000342734" "00023867" "90" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364Ter)" "" "0000342734" "00016986" "90" "1739" "0" "1739" "0" "c.*1295C>T" "r.(=)" "p.(=)" "" "0000345655" "00023867" "10" "3394" "0" "3394" "0" "c.3394G>A" "r.(?)" "p.(Gly1132Arg)" "" "0000345655" "00016986" "10" "4043" "0" "4043" "0" "c.*3599G>A" "r.(=)" "p.(=)" "" "0000346828" "00023867" "10" "2763" "0" "2763" "0" "c.2763A>G" "r.(?)" "p.(Ile921Met)" "" "0000346828" "00016986" "10" "3412" "0" "3412" "0" "c.*2968A>G" "r.(=)" "p.(=)" "" "0000350683" "00023867" "10" "2645" "0" "2645" "0" "c.2645T>C" "r.(?)" "p.(Val882Ala)" "" "0000350683" "00016986" "10" "3294" "0" "3294" "0" "c.*2850T>C" "r.(=)" "p.(=)" "" "0000351594" "00023867" "90" "247" "0" "247" "0" "c.247del" "r.(?)" "p.(Leu83Cysfs*14)" "6" "0000351595" "00023867" "90" "385" "0" "394" "0" "c.385_394dup" "r.(?)" "p.(Leu132Hisfs*22)" "7" "0000351596" "00023867" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196*)" "7" "0000351597" "00023867" "90" "730" "0" "730" "0" "c.730del" "r.(?)" "p.(Ala244Argfs*69)" "7" "0000351598" "00023867" "90" "773" "0" "774" "0" "c.773_774dup" "r.(?)" "p.(Ser259Profs*55)" "7" "0000351599" "00023867" "90" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364*)" "7" "0000351600" "00023867" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368*)" "7" "0000351601" "00023867" "90" "1194" "0" "1197" "0" "c.1194_1197del" "r.(?)" "p.(Leu400Trpfs*11)" "7" "0000351602" "00023867" "90" "1639" "0" "1639" "0" "c.1639C>T" "r.(?)" "p.(Gln547*)" "7" "0000351603" "00023867" "90" "2044" "0" "2044" "0" "c.2044G>T" "r.(?)" "p.(Glu682*)" "7" "0000351604" "00023867" "90" "2098" "0" "2098" "0" "c.2098del" "r.(?)" "p.(Ala700Profs*18)" "7" "0000351605" "00023867" "90" "2145" "0" "2145" "0" "c.2145T>A" "r.(?)" "p.(Cys715*)" "7" "0000351606" "00023867" "90" "2289" "0" "2289" "0" "c.2289del" "r.(?)" "p.(Asp765Thrfs*10)" "7" "0000351607" "00023867" "90" "2421" "0" "2421" "0" "c.2421del" "r.(?)" "p.(Lys808Serfs*2)" "7" "0000351608" "00023867" "90" "2787" "0" "2787" "0" "c.2787del" "r.(?)" "p.(Lys930Serfs*28)" "7" "0000351609" "00023867" "90" "2857" "0" "2857" "0" "c.2857C>T" "r.(?)" "p.(Arg953*)" "7" "0000351610" "00023867" "90" "2909" "0" "2909" "0" "c.2909G>A" "r.(?)" "p.(Arg970Gln)" "7" "0000351611" "00023867" "90" "3208" "0" "3208" "0" "c.3208C>T" "r.(?)" "p.(Arg1070*)" "7" "0000351612" "00023867" "90" "3772" "0" "3773" "0" "c.3772_3773delinsA" "r.(?)" "p.(Gly1258Thrfs*124)" "7" "0000455051" "00023867" "70" "1012" "0" "1012" "0" "c.1012del" "r.(?)" "p.(Ala338Profs*18)" "" "0000455052" "00023867" "70" "1390" "0" "1390" "0" "c.1390C>T" "r.(?)" "p.(Arg464*)" "" "0000455053" "00023867" "90" "2602" "0" "2602" "0" "c.2602del" "r.(?)" "p.(Gln868Argfs*53)" "" "0000455054" "00023867" "90" "913" "0" "913" "0" "c.913dup" "r.(?)" "p.(Thr305Asnfs*48)" "" "0000455055" "00023867" "90" "28" "-1" "184" "1" "c.(27+1_28-1)_(184+1_185-1)del" "r.?" "p.?" "4i_5i" "0000455056" "00023867" "90" "3120" "0" "3120" "0" "c.3120del" "r.(?)" "p.(Val1042Trpfs*15)" "" "0000567371" "00023867" "30" "4074" "0" "4079" "0" "c.4074_4079del" "r.(?)" "p.(Glu1360_Glu1361del)" "" "0000567371" "00016986" "30" "4723" "0" "4728" "0" "c.*4279_*4284del" "r.(=)" "p.(=)" "" "0000567372" "00023867" "10" "4077" "0" "4079" "0" "c.4077_4079del" "r.(?)" "p.(Glu1361del)" "" "0000567372" "00016986" "10" "4726" "0" "4728" "0" "c.*4282_*4284del" "r.(=)" "p.(=)" "" "0000567373" "00023867" "10" "4044" "0" "4044" "0" "c.4044G>C" "r.(?)" "p.(Gly1348=)" "" "0000567373" "00016986" "10" "4693" "0" "4693" "0" "c.*4249G>C" "r.(=)" "p.(=)" "" "0000567374" "00023867" "10" "3218" "0" "3218" "0" "c.3218A>G" "r.(?)" "p.(Glu1073Gly)" "" "0000567374" "00016986" "10" "3867" "0" "3867" "0" "c.*3423A>G" "r.(=)" "p.(=)" "" "0000567375" "00023867" "50" "2920" "0" "2920" "0" "c.2920G>A" "r.(?)" "p.(Glu974Lys)" "" "0000567375" "00016986" "50" "3569" "0" "3569" "0" "c.*3125G>A" "r.(=)" "p.(=)" "" "0000567376" "00023867" "90" "2857" "0" "2857" "0" "c.2857C>T" "r.(?)" "p.(Arg953Ter)" "" "0000567376" "00016986" "90" "3506" "0" "3506" "0" "c.*3062C>T" "r.(=)" "p.(=)" "" "0000567377" "00023867" "10" "2763" "0" "2763" "0" "c.2763A>G" "r.(?)" "p.(Ile921Met)" "" "0000567377" "00016986" "10" "3412" "0" "3412" "0" "c.*2968A>G" "r.(=)" "p.(=)" "" "0000567378" "00023867" "10" "2763" "0" "2763" "0" "c.2763A>G" "r.(?)" "p.(Ile921Met)" "" "0000567378" "00016986" "10" "3412" "0" "3412" "0" "c.*2968A>G" "r.(=)" "p.(=)" "" "0000567379" "00023867" "30" "2731" "0" "2731" "0" "c.2731G>A" "r.(?)" "p.(Val911Met)" "" "0000567379" "00016986" "30" "3380" "0" "3380" "0" "c.*2936G>A" "r.(=)" "p.(=)" "" "0000567380" "00023867" "10" "2727" "0" "2727" "0" "c.2727C>T" "r.(?)" "p.(Pro909=)" "" "0000567380" "00016986" "10" "3376" "0" "3376" "0" "c.*2932C>T" "r.(=)" "p.(=)" "" "0000567381" "00023867" "10" "2469" "0" "2469" "0" "c.2469G>A" "r.(?)" "p.(Ala823=)" "" "0000567381" "00016986" "10" "3118" "0" "3118" "0" "c.*2674G>A" "r.(=)" "p.(=)" "" "0000567382" "00023867" "50" "2420" "0" "2420" "0" "c.2420C>G" "r.(?)" "p.(Pro807Arg)" "" "0000567382" "00016986" "50" "3069" "0" "3069" "0" "c.*2625C>G" "r.(=)" "p.(=)" "" "0000567383" "00023867" "50" "2282" "0" "2282" "0" "c.2282C>T" "r.(?)" "p.(Pro761Leu)" "" "0000567383" "00016986" "50" "2931" "0" "2931" "0" "c.*2487C>T" "r.(=)" "p.(=)" "" "0000567384" "00023867" "30" "2254" "0" "2254" "0" "c.2254G>A" "r.(?)" "p.(Glu752Lys)" "" "0000567384" "00016986" "30" "2903" "0" "2903" "0" "c.*2459G>A" "r.(=)" "p.(=)" "" "0000567385" "00023867" "10" "2017" "0" "2017" "0" "c.2017A>G" "r.(?)" "p.(Met673Val)" "" "0000567385" "00016986" "10" "2666" "0" "2666" "0" "c.*2222A>G" "r.(=)" "p.(=)" "" "0000567386" "00023867" "30" "1836" "0" "1836" "0" "c.1836C>T" "r.(?)" "p.(Ala612=)" "" "0000567386" "00016986" "30" "2485" "0" "2485" "0" "c.*2041C>T" "r.(=)" "p.(=)" "" "0000567387" "00023867" "10" "1281" "0" "1281" "0" "c.1281C>T" "r.(?)" "p.(Ile427=)" "" "0000567387" "00016986" "10" "1930" "0" "1930" "0" "c.*1486C>T" "r.(=)" "p.(=)" "" "0000567388" "00023867" "30" "1113" "0" "1113" "0" "c.1113A>G" "r.(?)" "p.(Glu371=)" "" "0000567388" "00016986" "30" "1762" "0" "1762" "0" "c.*1318A>G" "r.(=)" "p.(=)" "" "0000567389" "00023867" "10" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Pro351Ser)" "" "0000567389" "00016986" "10" "1700" "0" "1700" "0" "c.*1256C>T" "r.(=)" "p.(=)" "" "0000567390" "00023867" "50" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Pro271Ser)" "" "0000567390" "00016986" "50" "1460" "0" "1460" "0" "c.*1016C>T" "r.(=)" "p.(=)" "" "0000567392" "00023867" "50" "613" "0" "613" "0" "c.613G>C" "r.(?)" "p.(Ala205Pro)" "" "0000567392" "00016986" "50" "1262" "0" "1262" "0" "c.*818G>C" "r.(=)" "p.(=)" "" "0000567393" "00023867" "10" "471" "0" "471" "0" "c.471G>A" "r.(?)" "p.(Glu157=)" "" "0000567393" "00016986" "10" "1120" "0" "1120" "0" "c.*676G>A" "r.(=)" "p.(=)" "" "0000567395" "00023867" "30" "381" "81" "381" "81" "c.381+81C>T" "r.(=)" "p.(=)" "" "0000567395" "00016986" "30" "462" "0" "462" "0" "c.*18C>T" "r.(=)" "p.(=)" "" "0000567398" "00023867" "50" "-20" "0" "-20" "0" "c.-20A>C" "r.(?)" "p.(=)" "" "0000567398" "00016986" "50" "-20" "0" "-20" "0" "c.-20A>C" "r.(?)" "p.(=)" "" "0000567399" "00023867" "10" "-242" "-1975" "-242" "-1975" "c.-242-1975C>T" "r.(=)" "p.(=)" "" "0000567399" "00016986" "10" "-242" "-1975" "-242" "-1975" "c.-242-1975C>T" "r.(=)" "p.(=)" "" "0000595651" "00023867" "50" "589" "0" "589" "0" "c.589G>T" "r.(?)" "p.(Glu197*)" "" "0000595651" "00016986" "50" "1238" "0" "1238" "0" "c.*794G>T" "r.(=)" "p.(=)" "" "0000595652" "00023867" "50" "3964" "0" "3965" "0" "c.3964_3965insC" "r.(?)" "p.(Glu1322Alafs*3)" "" "0000595652" "00016986" "50" "4613" "0" "4614" "0" "c.*4169_*4170insC" "r.(=)" "p.(=)" "" "0000617619" "00023867" "30" "3373" "0" "3373" "0" "c.3373G>A" "r.(?)" "p.(Gly1125Ser)" "" "0000617619" "00016986" "30" "4022" "0" "4022" "0" "c.*3578G>A" "r.(=)" "p.(=)" "" "0000617620" "00023867" "30" "1574" "0" "1574" "0" "c.1574T>C" "r.(?)" "p.(Val525Ala)" "" "0000617620" "00016986" "30" "2223" "0" "2223" "0" "c.*1779T>C" "r.(=)" "p.(=)" "" "0000624007" "00023867" "30" "1574" "0" "1574" "0" "c.1574T>C" "r.(?)" "p.(Val525Ala)" "" "0000624007" "00016986" "30" "2223" "0" "2223" "0" "c.*1779T>C" "r.(=)" "p.(=)" "" "0000624008" "00023867" "50" "719" "0" "719" "0" "c.719G>A" "r.(?)" "p.(Arg240Gln)" "" "0000624008" "00016986" "50" "1368" "0" "1368" "0" "c.*924G>A" "r.(=)" "p.(=)" "" "0000624009" "00023867" "30" "133" "0" "133" "0" "c.133C>G" "r.(?)" "p.(Arg45Gly)" "" "0000624009" "00016986" "30" "133" "0" "133" "0" "c.133C>G" "r.(?)" "p.(Arg45Gly)" "" "0000649977" "00023867" "30" "3702" "0" "3702" "0" "c.3702C>T" "r.(=)" "p.(=)" "" "0000649977" "00016986" "30" "4351" "0" "4351" "0" "c.*3907C>T" "r.(=)" "p.(=)" "" "0000649978" "00023867" "90" "3208" "0" "3208" "0" "c.3208C>T" "r.(?)" "p.(Arg1070*)" "" "0000649978" "00016986" "90" "3857" "0" "3857" "0" "c.*3413C>T" "r.(=)" "p.(=)" "" "0000649979" "00023867" "50" "2254" "0" "2254" "0" "c.2254G>A" "r.(?)" "p.(Glu752Lys)" "" "0000649979" "00016986" "50" "2903" "0" "2903" "0" "c.*2459G>A" "r.(=)" "p.(=)" "" "0000649980" "00023867" "30" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Pro351Ser)" "" "0000649980" "00016986" "30" "1700" "0" "1700" "0" "c.*1256C>T" "r.(=)" "p.(=)" "" "0000649981" "00023867" "50" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Pro298Ser)" "" "0000649981" "00016986" "50" "1541" "0" "1541" "0" "c.*1097C>T" "r.(=)" "p.(=)" "" "0000649982" "00023867" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Ala149Thr)" "" "0000649982" "00016986" "50" "1094" "0" "1094" "0" "c.*650G>A" "r.(=)" "p.(=)" "" "0000658570" "00023867" "50" "2548" "0" "2548" "0" "c.2548C>G" "r.(?)" "p.(Pro850Ala)" "" "0000658570" "00016986" "50" "3197" "0" "3197" "0" "c.*2753C>G" "r.(=)" "p.(=)" "" "0000668260" "00023867" "90" "3099" "0" "3099" "0" "c.3099del" "r.(?)" "p.(Glu1034Argfs*5)" "" "0000669477" "00023867" "30" "3702" "0" "3702" "0" "c.3702C>T" "r.(=)" "p.(=)" "" "0000669477" "00016986" "30" "4351" "0" "4351" "0" "c.*3907C>T" "r.(=)" "p.(=)" "" "0000681413" "00023867" "50" "4244" "0" "4246" "0" "c.4244_4246dup" "r.(?)" "p.(Val1415_Ser1416insLeu)" "" "0000681413" "00016986" "50" "4893" "0" "4895" "0" "c.*4449_*4451dup" "r.(=)" "p.(=)" "" "0000727367" "00023867" "30" "3496" "0" "3496" "0" "c.3496C>T" "r.(?)" "p.(Pro1166Ser)" "" "0000727367" "00016986" "30" "4145" "0" "4145" "0" "c.*3701C>T" "r.(=)" "p.(=)" "" "0000727368" "00023867" "30" "3439" "0" "3439" "0" "c.3439C>T" "r.(?)" "p.(Pro1147Ser)" "" "0000727368" "00016986" "30" "4088" "0" "4088" "0" "c.*3644C>T" "r.(=)" "p.(=)" "" "0000727369" "00023867" "30" "3373" "0" "3373" "0" "c.3373G>A" "r.(?)" "p.(Gly1125Ser)" "" "0000727369" "00016986" "30" "4022" "0" "4022" "0" "c.*3578G>A" "r.(=)" "p.(=)" "" "0000727370" "00023867" "50" "1759" "0" "1759" "0" "c.1759C>T" "r.(?)" "p.(Leu587Phe)" "" "0000727370" "00016986" "50" "2408" "0" "2408" "0" "c.*1964C>T" "r.(=)" "p.(=)" "" "0000727371" "00023867" "50" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(Arg167Cys)" "" "0000727371" "00016986" "50" "1148" "0" "1148" "0" "c.*704C>T" "r.(=)" "p.(=)" "" "0000786996" "00016986" "70" "231" "0" "231" "0" "c.231C>A" "r.(?)" "p.(Tyr77Ter)" "6" "0000808870" "00023867" "50" "4118" "0" "4118" "0" "c.4118G>A" "r.(?)" "p.(Arg1373Gln)" "" "0000808870" "00016986" "50" "4767" "0" "4767" "0" "c.*4323G>A" "r.(=)" "p.(=)" "" "0000808871" "00023867" "30" "2106" "0" "2106" "0" "c.2106C>T" "r.(?)" "p.(Pro702=)" "" "0000808871" "00016986" "30" "2755" "0" "2755" "0" "c.*2311C>T" "r.(=)" "p.(=)" "" "0000823961" "00023867" "50" "2775" "0" "2775" "0" "c.2775C>T" "r.(?)" "Val925(=)" "7" "0000823997" "00023867" "50" "4356" "0" "4356" "0" "c.4356G>T" "r.(?)" "p.(Arg1452Ser)" "7" "0000855588" "00023867" "50" "2620" "0" "2620" "0" "c.2620G>A" "r.(?)" "p.(Ala874Thr)" "" "0000855588" "00016986" "50" "3269" "0" "3269" "0" "c.*2825G>A" "r.(=)" "p.(=)" "" "0000866130" "00023867" "10" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Ala406Thr)" "" "0000866130" "00016986" "10" "1865" "0" "1865" "0" "c.*1421G>A" "r.(=)" "p.(=)" "" "0000866131" "00023867" "10" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Ala244Val)" "" "0000866131" "00016986" "10" "1380" "0" "1380" "0" "c.*936C>T" "r.(=)" "p.(=)" "" "0000894988" "00023867" "50" "4129" "0" "4129" "0" "c.4129C>T" "r.(?)" "p.(Arg1377Cys)" "" "0000894988" "00016986" "50" "4778" "0" "4778" "0" "c.*4334C>T" "r.(=)" "p.(=)" "" "0000894989" "00023867" "30" "3249" "0" "3249" "0" "c.3249G>A" "r.(?)" "p.(Pro1083=)" "" "0000894989" "00016986" "30" "3898" "0" "3898" "0" "c.*3454G>A" "r.(=)" "p.(=)" "" "0000894990" "00023867" "50" "2326" "0" "2326" "0" "c.2326C>G" "r.(?)" "p.(Leu776Val)" "" "0000894990" "00016986" "50" "2975" "0" "2975" "0" "c.*2531C>G" "r.(=)" "p.(=)" "" "0000894991" "00023867" "50" "2197" "0" "2197" "0" "c.2197C>T" "r.(?)" "p.(Pro733Ser)" "" "0000894991" "00016986" "50" "2846" "0" "2846" "0" "c.*2402C>T" "r.(=)" "p.(=)" "" "0000894992" "00023867" "50" "1538" "0" "1538" "0" "c.1538C>T" "r.(?)" "p.(Pro513Leu)" "" "0000894992" "00016986" "50" "2187" "0" "2187" "0" "c.*1743C>T" "r.(=)" "p.(=)" "" "0000894993" "00023867" "30" "1500" "0" "1500" "0" "c.1500A>G" "r.(?)" "p.(Ser500=)" "" "0000894993" "00016986" "30" "2149" "0" "2149" "0" "c.*1705A>G" "r.(=)" "p.(=)" "" "0000894994" "00023867" "30" "540" "0" "540" "0" "c.540G>A" "r.(?)" "p.(Pro180=)" "" "0000894994" "00016986" "30" "1189" "0" "1189" "0" "c.*745G>A" "r.(=)" "p.(=)" "" "0000915226" "00023867" "30" "3373" "0" "3373" "0" "c.3373G>A" "r.(?)" "p.(Gly1125Ser)" "" "0000915226" "00016986" "30" "4022" "0" "4022" "0" "c.*3578G>A" "r.(=)" "p.(=)" "" "0000915227" "00023867" "50" "2548" "0" "2548" "0" "c.2548C>G" "r.(?)" "p.(Pro850Ala)" "" "0000915227" "00016986" "50" "3197" "0" "3197" "0" "c.*2753C>G" "r.(=)" "p.(=)" "" "0000915228" "00023867" "50" "1754" "0" "1754" "0" "c.1754T>C" "r.(?)" "p.(Met585Thr)" "" "0000915228" "00016986" "50" "2403" "0" "2403" "0" "c.*1959T>C" "r.(=)" "p.(=)" "" "0000915229" "00023867" "30" "1651" "0" "1651" "0" "c.1651G>A" "r.(?)" "p.(Val551Met)" "" "0000915229" "00016986" "30" "2300" "0" "2300" "0" "c.*1856G>A" "r.(=)" "p.(=)" "" "0000926888" "00023867" "30" "3831" "0" "3831" "0" "c.3831C>G" "r.(?)" "p.(Pro1277=)" "" "0000926888" "00016986" "30" "4480" "0" "4480" "0" "c.*4036C>G" "r.(=)" "p.(=)" "" "0000926889" "00023867" "30" "2254" "0" "2254" "0" "c.2254G>A" "r.(?)" "p.(Glu752Lys)" "" "0000926889" "00016986" "30" "2903" "0" "2903" "0" "c.*2459G>A" "r.(=)" "p.(=)" "" "0000926890" "00023867" "30" "747" "0" "747" "0" "c.747C>T" "r.(?)" "p.(Pro249=)" "" "0000926890" "00016986" "30" "1396" "0" "1396" "0" "c.*952C>T" "r.(=)" "p.(=)" "" "0000926891" "00023867" "30" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.(Ala244=)" "" "0000926891" "00016986" "30" "1381" "0" "1381" "0" "c.*937G>A" "r.(=)" "p.(=)" "" "0000951295" "00023867" "50" "160" "0" "160" "0" "c.160G>A" "r.(?)" "p.(Ala54Thr)" "" "0000951295" "00016986" "50" "160" "0" "160" "0" "c.160G>A" "r.(?)" "p.(Ala54Thr)" "" "0000969758" "00023867" "30" "3306" "0" "3306" "0" "c.3306C>T" "r.(?)" "p.(=)" "" "0000969758" "00016986" "30" "3955" "0" "3955" "0" "c.*3511C>T" "r.(=)" "p.(=)" "" "0000969759" "00023867" "10" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "" "0000969759" "00016986" "10" "2613" "0" "2613" "0" "c.*2169C>T" "r.(=)" "p.(=)" "" "0000969760" "00023867" "10" "1625" "0" "1625" "0" "c.1625G>A" "r.(?)" "p.(Arg542Gln)" "" "0000969760" "00016986" "10" "2274" "0" "2274" "0" "c.*1830G>A" "r.(=)" "p.(=)" "" "0000969761" "00023867" "30" "823" "0" "823" "0" "c.823C>A" "r.(?)" "p.(Leu275Ile)" "" "0000969761" "00016986" "30" "1472" "0" "1472" "0" "c.*1028C>A" "r.(=)" "p.(=)" "" "0000969763" "00023867" "30" "381" "73" "381" "73" "c.381+73C>G" "r.(=)" "p.(=)" "" "0000969763" "00016986" "30" "454" "0" "454" "0" "c.*10C>G" "r.(=)" "p.(=)" "" "0000983466" "00023867" "90" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364Ter)" "" "0000983466" "00016986" "90" "1739" "0" "1739" "0" "c.*1295C>T" "r.(=)" "p.(=)" "" "0001027224" "00023867" "30" "823" "0" "823" "0" "c.823C>A" "r.(?)" "p.(Leu275Ile)" "" "0001027224" "00016986" "30" "1472" "0" "1472" "0" "c.*1028C>A" "r.(=)" "p.(=)" "" "0001056669" "00023867" "70" "2145" "0" "2146" "0" "c.2145_2146del" "r.(?)" "p.(Cys715*)" "" "0001056669" "00016986" "70" "2794" "0" "2795" "0" "c.*2350_*2351del" "r.(=)" "p.(=)" "" "0001059047" "00023867" "90" "2787" "0" "2787" "0" "c.2787del" "r.(?)" "p.(Lys930SerfsTer28)" "" "0001059048" "00023867" "90" "3611" "0" "3611" "0" "c.3611del" "r.(?)" "p.(Leu1204ArgfsTer13)" "" "0001062904" "00023867" "70" "232" "0" "232" "0" "c.232G>T" "r.(?)" "p.(Glu78Ter)" "6" "0001069228" "00023867" "90" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364Ter)" "" "0001069252" "00023867" "90" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364Ter)" "" "0001069280" "00023867" "50" "2035" "0" "2035" "0" "c.2035C>T" "r.(?)" "p.(Arg679Ter)" "" "0001069559" "00023867" "70" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364Ter)" "" "0001069593" "00023867" "90" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364Ter)" "" "0001069911" "00023867" "70" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368Ter)" "" "0001069947" "00023867" "90" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364Ter)" "" "0001070023" "00023867" "50" "1767" "0" "1767" "0" "c.1767G>C" "r.(?)" "p.(Lys589Asn)" "" "0001070028" "00023867" "70" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364Ter)" "" "0001073599" "00023867" "90" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364Ter)" "7" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 58 "{{screeningid}}" "{{variantid}}" "0000036662" "0000063787" "0000036663" "0000063788" "0000036664" "0000063789" "0000036665" "0000063790" "0000036666" "0000063791" "0000036667" "0000063792" "0000152240" "0000245374" "0000152759" "0000351594" "0000152760" "0000351595" "0000152761" "0000351596" "0000152762" "0000351597" "0000152763" "0000351598" "0000152764" "0000351599" "0000152765" "0000351600" "0000152766" "0000351601" "0000152767" "0000351602" "0000152768" "0000351603" "0000152769" "0000351604" "0000152770" "0000351605" "0000152771" "0000351606" "0000152772" "0000351607" "0000152773" "0000351608" "0000152774" "0000351609" "0000152775" "0000351610" "0000152776" "0000351611" "0000152777" "0000351612" "0000220144" "0000455051" "0000220145" "0000455052" "0000220146" "0000455053" "0000220146" "0000455054" "0000220147" "0000455055" "0000220147" "0000455056" "0000265068" "0000595651" "0000265069" "0000595652" "0000293288" "0000649977" "0000293289" "0000649978" "0000293290" "0000649979" "0000293291" "0000649980" "0000293292" "0000649981" "0000293293" "0000649982" "0000304756" "0000668260" "0000305789" "0000669477" "0000375645" "0000786996" "0000393219" "0000823961" "0000393219" "0000823997" "0000470925" "0001059047" "0000470926" "0001059048" "0000473931" "0001062904" "0000474830" "0001069228" "0000474854" "0001069252" "0000474882" "0001069280" "0000475163" "0001069559" "0000475197" "0001069593" "0000475517" "0001069911" "0000475554" "0001069947" "0000475630" "0001070023" "0000475635" "0001070028" "0000478212" "0001073599"