### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HSPG2) # 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}}" "HSPG2" "heparan sulfate proteoglycan 2" "1" "p36.1-p35" "unknown" "NG_016740.1" "UD_132118588809" "" "https://www.LOVD.nl/HSPG2" "" "1" "5273" "3339" "142461" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/HSPG2_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2017-10-22 13:30:28" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000028" "HSPG2" "heparan sulfate proteoglycan 2" "001" "NM_005529.5" "" "NP_005520.4" "" "" "" "-40" "14248" "13176" "22263750" "22148737" "00002" "2012-05-11 13:11:52" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00542" "SJS1" "Schwartz-Jampel syndrome, type 1 (SJS-1)" "AR" "255800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00543" "DDSH" "dysplasia, dyssegmental, Silverman-Handmaker type (DDSH)" "AR" "224410" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04165" "-" "Lichtenstein–Knorr syndrome" "" "" "" "" "" "00006" "2014-12-23 22:06:25" "" "" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04282" "CVI" "cerebral visual impairment (CVI)" "" "" "" "" "" "00006" "2015-06-15 15:37:52" "00006" "2015-06-15 15:38:26" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HSPG2" "00542" "HSPG2" "00543" ## Individuals ## Do not remove or alter this header ## ## Count = 35 "{{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}}" "00000061" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000062" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00027175" "" "" "" "3" "" "00006" "{PMID:Guissart 2014:25205112}" "4-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents" "" "yes" "Turkey" "" "0" "" "" "" "" "00039391" "" "" "" "1" "" "01158" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "M" "no" "Aruba" "" "0" "" "" "" "" "00050499" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050634" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00132074" "" "" "" "1" "" "01396" "" "" "M" "" "Brazil" "" "0" "" "" "" "1" "00164684" "" "" "" "1" "" "00006" "{PMID:Guissart 2018:29656859}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" "" "0" "" "" "" "29656859-Pat7" "00289725" "" "" "" "100" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289726" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289727" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289729" "" "" "" "47" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289731" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289732" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289733" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289734" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289735" "" "" "" "20" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289736" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304184" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00316025" "" "" "" "1" "" "00006" "{PMID:Zaharieva 2016:26700687}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam1PatII1" "00331478" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2F)" "F" "yes" "" "" "0" "" "" "Arab" "14DG0082" "00331479" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "17DG0802" "00331480" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "17DG0803" "00331481" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "17DG0805" "00359652" "" "" "" "1" "" "00006" "{PMID:Tang 2021:33777089}" "fetus" "" "" "China" "" "0" "" "" "" "Pat10" "00379699" "" "" "" "1" "" "00000" "{PMID:Wan 2018:30245926}" "" "?" "" "China" "" "0" "" "" "Han Chinese" "R0011" "00379709" "" "" "" "1" "" "00000" "{PMID:Wan 2018:30245926}" "" "?" "" "China" "" "0" "" "" "Han Chinese" "R0023" "00387709" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M090" "00416193" "" "" "" "1" "" "02153" "" "" "M" "no" "" "" "" "" "" "African" "Raffaella Brugnoni" "00427994" "" "" "" "2" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 2 affected (F, M)" "" "" "Australia" "" "0" "" "" "" "A085" "00442668" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat40" "00442777" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat149" "00464291" "" "" "" "1" "" "00006" "{PMID:Tidwell 2020:33154040}, {DOI:Tidwell 2020:10.1101/mcs.a005728}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "no" "United States" "" "0" "" "" "white;Peru;native American" "patient" "00466691" "" "" "" "1" "" "00006" "{PMID:Plachy 2019:30753492}" "" "F" "" "Czech Republic" "" "0" "" "" "" "Pat12" "00466697" "" "" "" "1" "" "00006" "{PMID:Plachy 2019:30753492}" "" "M" "" "Czech Republic" "" "0" "" "" "" "Pat18" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 34 "{{individualid}}" "{{diseaseid}}" "00027175" "04165" "00039391" "00139" "00039391" "04282" "00050499" "00198" "00050634" "00198" "00132074" "00542" "00164684" "00198" "00289725" "00198" "00289726" "00198" "00289727" "00198" "00289729" "00198" "00289731" "00198" "00289732" "00198" "00289733" "00198" "00289734" "00198" "00289735" "00198" "00289736" "00198" "00304184" "00198" "00316025" "00198" "00331478" "05517" "00331479" "05517" "00331480" "05517" "00331481" "05517" "00359652" "05517" "00379699" "04214" "00379709" "04214" "00387709" "00139" "00416193" "00542" "00427994" "00198" "00442668" "05618" "00442777" "05618" "00464291" "00198" "00466691" "04184" "00466697" "04184" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00542, 00543, 04165, 04184, 04214, 04282, 05517, 05618 ## Count = 21 "{{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}}" "0000023247" "04165" "00027175" "00006" "Familial, autosomal recessive" "" "see paper; early onset cerebellar ataxia, deafness" "" "" "" "" "" "" "" "" "" "" "" "0000034043" "04282" "00039391" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037111" "00198" "00050499" "00006" "Isolated (sporadic)" "" "temperature instability, intellectual disability, disproportionate short-limb short stature, autism, abnormal metaphyseal trabeculation" "" "" "" "" "" "" "" "" "" "" "" "0000037246" "00198" "00050634" "00006" "Isolated (sporadic)" "" "supraventricular tachycardia, mild short stature, clinodactyly of the 5th finger, specific learning disability" "" "" "" "" "" "" "" "" "" "" "" "0000104262" "00542" "00132074" "01396" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129721" "00198" "00164684" "00006" "Isolated (sporadic)" "" "see paper; … *" "" "" "" "" "" "" "" "" "" "" "" "0000239770" "00198" "00316025" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., fetal reduced movements, breech presentation; birth moderate to severe congenital hypotonia, weak cry, thin muscle build, talipes, tube fed first 12 days, ongoing difficulties with suck during infancy but able to bottle feed; mild facial weakness, high arched palate, elongated face, neck flexion and axial weakness; limb weakness PUL ++, DUL +, PLL +++, DLL ++, weakest muscle groups neck flexors, axial muscles, hip extensors, abductors; generalized muscle atrophy most marked in shoulders; 2y-oromotor difficulties resolved; 2y-hip, knee and Achilles tendon contractures; delayed motor milestones, walk2y9m, jump-3-4y, run-3-4y (slowly); childhood: frequent falls, positive Gowers’ sign, ongoing improvements in strength and motor skills over time14y-still ambulant (500 m) with slow waddling gait, 4y-uses splints, K-walker and manual wheelchair for longer distances; 3y9m-mild ophthalmoplegia (upgaze weakness) noted, large asymmetrical dolichocephalic head shape, frontal bossing, micrognathia; 2y-scoliosis, spinal rigidity; 12y-spinal fusion for scoliosis; 6y-BIPAP required, 13y10m FVC 0.44; pes planus childhood; height initially 50th percentile fell to 2–10th percentile 13y10m (in part due to scoliosis); hypermobility; mild asymmetrical pectus excavatum; 12y-short-lived episodic weakness during febrile illnesses, post-exercise and on hot days; 13y-activity-limiting increase in fatigability, fatigues quickly with walking and writing; improved strength endurance with regular oral salbutamol" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000249670" "05517" "00331478" "00000" "Familial, autosomal recessive" "" "Hirsutism, Short neck, Full cheeks, Narrow mouth, Pursed lips" "" "" "" "" "" "" "" "" "Perlecan group" "skeletal dysplasia" "" "0000249671" "05517" "00331479" "00000" "Familial, autosomal recessive" "" "Skeletal dysplasia, Short stature, Intrauterine growth retardation, Epicanthus, Unilateral mNo" "" "" "" "" "" "" "" "" "Perlecan group/abnormal mineralization group" "skeletal dysplasia" "" "0000249672" "05517" "00331480" "00000" "Familial, autosomal recessive" "" "Neonatal respiratory distress, Prominent nose, Short stature, Microcephaly, Scoliosis, Bila No" "" "" "" "" "" "" "" "" "Perlecan group" "skeletal dysplasia" "" "0000249673" "05517" "00331481" "00000" "Familial, autosomal recessive" "" "Kyphosis, Cervical spinal canal stenosis, Narrow mouth, Long eyelashes, Brachycephaly, Pl No" "" "" "" "" "" "" "" "" "Perlecan group" "skeletal dysplasia" "" "0000254925" "05517" "00359652" "00006" "Familial, autosomal recessive" "<0d" "24w-fetus short limbs, micrognathia, spine misaligned" "" "" "" "" "" "" "" "" "" "fetal skeletal dysplasia" "" "0000273544" "04214" "00379699" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "high myopia" "" "0000273554" "04214" "00379709" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "high myopia" "" "0000281277" "00139" "00387709" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000318940" "00198" "00427994" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000332015" "05618" "00442668" "00006" "Familial, autosomal recessive" "15y" "Myotonia, elbow and hipcontractures, facial weakness, cardiomyopathy, dysmorphic features; EMG: myotonic discharges; CK slightly increased" "2y" "" "" "" "" "" "" "" "" "Myotonia, elbow and hipcontractures, cardiomyopathy" "" "0000332124" "05618" "00442777" "00006" "Unknown" "" "Limb girdle muscle weakness with dilating cardiomyopathy" "" "" "" "" "" "" "" "" "" "limb girdle muscle weakenss" "" "0000350354" "00198" "00464291" "00006" "Isolated (sporadic)" "03y06m" "see paper; ..., microcephaly, severe global developmental delay; ventricular septal defect, patent foramen ovale, rhizomelic shortening extremities, pectus carinatum, underdeveloped genitalia (severe penoscrotal hypospadias, cryptorchidism); distinctive facial features, bulbous nasal tip, microretrognathia, downturned corners mouth" "" "" "" "" "" "" "" "" "SSMG" "microcephaly, global developmental delay" "" "0000352054" "04184" "00466691" "00006" "Unknown" "8y" "see paper; ..., growth hormone deficiency, limb shortening; height SDS-3.5; birth weight SDS0.04, length SDS-0.95" "" "" "" "" "" "" "" "" "" "short stature" "" "0000352060" "04184" "00466697" "00006" "Unknown" "9y" "see paper; ..., small for gestational age, growth hormone deficiency, hypospadia, minor stigmata; height SDS-4.17; birth weight SDS-1.95, length SDS-3.09" "" "" "" "" "" "" "" "" "" "short stature" "" ## Screenings ## Do not remove or alter this header ## ## Count = 35 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000061" "00000061" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000062" "00000062" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000027179" "00027175" "1" "00006" "00006" "2014-12-23 22:09:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000039632" "00039391" "1" "01158" "01158" "2015-06-15 13:30:51" "" "" "SEQ-NG" "DNA" "" "" "0000050444" "00050499" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050579" "00050634" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000132913" "00132074" "1" "01396" "01396" "2017-10-18 18:56:16" "" "" "SEQ-NG" "DNA" "" "" "0000165550" "00164684" "1" "00006" "00006" "2018-06-04 23:10:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290893" "00289725" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290894" "00289726" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290895" "00289727" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290897" "00289729" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290899" "00289731" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290900" "00289732" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290901" "00289733" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290902" "00289734" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290903" "00289735" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290904" "00289736" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305313" "00304184" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000317207" "00316025" "1" "00006" "00006" "2020-11-01 16:34:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332697" "00331478" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332698" "00331479" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332699" "00331480" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332700" "00331481" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360882" "00359652" "1" "00006" "00006" "2021-04-03 16:29:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000380901" "00379699" "1" "00000" "03840" "2021-08-06 16:45:16" "" "" "SEQ-NG-I" "DNA" "blood" "Whole-exome sequencing" "0000380911" "00379709" "1" "00000" "03840" "2021-08-06 16:45:16" "" "" "SEQ-NG-I" "DNA" "blood" "Whole-exome sequencing" "0000388940" "00387709" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417472" "00416193" "1" "02153" "02153" "2022-08-24 10:42:58" "" "" "SEQ-NG" "DNA" "peripheral blood" "" "0000429407" "00427994" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "duo WES" "0000444152" "00442668" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444261" "00442777" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000465922" "00464291" "1" "00006" "00006" "2025-02-28 15:29:10" "00006" "2025-02-28 15:35:26" "arrayCGH;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "trio WES" "0000468355" "00466691" "1" "00006" "00006" "2025-09-23 14:50:33" "" "" "SEQ-NG" "DNA" "" "WES" "0000468361" "00466697" "1" "00006" "00006" "2025-09-23 14:50:33" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 42 "{{screeningid}}" "{{geneid}}" "0000000061" "ADA" "0000000061" "ATP7B" "0000000061" "BTD" "0000000061" "ETFB" "0000000061" "GLB1" "0000000061" "HEXB" "0000000061" "HSPG2" "0000000061" "MTHFR" "0000000061" "POMGNT1" "0000000061" "SERPINA1" "0000000061" "SMPD1" "0000000062" "AGXT" "0000000062" "ATP7B" "0000000062" "CLN3" "0000000062" "CYP21A2" "0000000062" "ETFB" "0000000062" "GALC" "0000000062" "GALT" "0000000062" "GLB1" "0000000062" "HSPG2" "0000000062" "IGHMBP2" "0000000062" "MEFV" "0000000062" "NEB" "0000000062" "NPHS1" "0000000062" "SERPINA1" "0000000062" "SLC26A2" "0000000062" "TGM1" "0000027179" "SLC9A1" "0000050444" "HSPG2" "0000132913" "HSPG2" "0000165550" "RORA" "0000317207" "SCN4A" "0000332697" "HSPG2" "0000332698" "HSPG2" "0000332699" "HSPG2" "0000332700" "HSPG2" "0000360882" "HSPG2" "0000380901" "ABCA4" "0000380911" "RPGR" "0000388940" "HSPG2" "0000417472" "HSPG2" "0000465922" "ARCN1" ## 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 = 485 "{{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}}" "0000000091" "0" "50" "1" "22202483" "22202483" "subst" "0.00658194" "00002" "HSPG2_000001" "g.22202483G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.21875990G>A" "" "VUS" "" "0000000092" "0" "50" "1" "22202483" "22202483" "subst" "0.00658194" "00002" "HSPG2_000001" "g.22202483G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.21875990G>A" "" "VUS" "" "0000050316" "3" "30" "1" "22157518" "22157518" "subst" "0" "00006" "HSPG2_000002" "g.22157518G>A" "" "{PMID:Guissart 2014:25205112}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21831025G>A" "" "likely benign" "" "0000067235" "11" "30" "1" "22211048" "22211048" "subst" "3.27041E-5" "01158" "HSPG2_000004" "g.22211048G>A" "" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "" "variant present in affected sister" "Germline" "" "" "0" "" "" "g.21884555G>A" "" "likely benign" "" "0000067236" "21" "30" "1" "22206977" "22206977" "subst" "0.00287598" "01158" "HSPG2_000003" "g.22206977C>T" "" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "" "variant present in affected sister" "Germline" "" "" "0" "" "" "g.21880484C>T" "" "likely benign" "" "0000079424" "21" "90" "1" "22200454" "22200454" "subst" "0.00166224" "00006" "HSPG2_000006" "g.22200454G>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.21873961G>T" "" "pathogenic" "" "0000079559" "0" "90" "1" "20540741" "22890410" "del" "0" "00006" "HSPG2_000007" "g.20540741_22890410del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.20214248_22563917del" "" "pathogenic" "" "0000079665" "11" "90" "1" "22205601" "22205601" "subst" "0.00641229" "00006" "HSPG2_000005" "g.22205601T>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.21879108T>C" "" "pathogenic" "" "0000222096" "11" "70" "1" "22200895" "22200895" "subst" "0" "01396" "HSPG2_000009" "g.22200895G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21874402G>A" "" "likely pathogenic" "" "0000222097" "21" "70" "1" "22168753" "22168753" "del" "0" "01396" "HSPG2_000008" "g.22168753del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21842260del" "" "likely pathogenic" "" "0000248482" "0" "10" "1" "22154845" "22154845" "subst" "0.293136" "02325" "HSPG2_000017" "g.22154845A>G" "" "" "" "HSPG2(NM_005529.7):c.12312T>C (p.D4104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21828352A>G" "" "benign" "" "0000248483" "0" "10" "1" "22165901" "22165901" "subst" "0.276538" "02325" "HSPG2_000035" "g.22165901A>G" "" "" "" "HSPG2(NM_005529.7):c.9852T>C (p.A3284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21839408A>G" "" "benign" "" "0000248969" "0" "10" "1" "22174600" "22174600" "subst" "0.795268" "02325" "HSPG2_000048" "g.22174600A>G" "" "" "" "HSPG2(NM_005529.7):c.7738-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21848107A>G" "" "benign" "" "0000252011" "0" "30" "1" "22190709" "22190709" "del" "0.0022593" "02326" "HSPG2_000068" "g.22190709del" "" "" "" "HSPG2(NM_001291860.2):c.4630-3delT, HSPG2(NM_005529.5):c.4627-3del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21864216del" "" "likely benign" "" "0000255635" "0" "90" "1" "22181355" "22181355" "del" "0" "01943" "HSPG2_000052" "g.22181355del" "" "" "" "HSPG2(NM_001291860.1):c.6122delT (p.V2041Gfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21854862del" "" "pathogenic" "" "0000255854" "0" "50" "1" "22211900" "22211900" "subst" "0" "01943" "HSPG2_000086" "g.22211900A>G" "" "" "" "HSPG2(NM_001291860.1):c.1123T>C (p.C375R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21885407A>G" "" "VUS" "" "0000281431" "0" "10" "1" "22161275" "22161275" "subst" "0.173186" "02325" "HSPG2_000029" "g.22161275G>A" "" "" "" "HSPG2(NM_005529.7):c.10617C>T (p.V3539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21834782G>A" "" "benign" "" "0000281432" "0" "10" "1" "22160111" "22160111" "subst" "0.173485" "02325" "HSPG2_000026" "g.22160111C>T" "" "" "" "HSPG2(NM_005529.7):c.10831-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21833618C>T" "" "benign" "" "0000281433" "0" "10" "1" "22157689" "22157689" "subst" "0.791629" "02325" "HSPG2_000024" "g.22157689G>A" "" "" "" "HSPG2(NM_005529.7):c.11562+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21831196G>A" "" "benign" "" "0000281437" "0" "10" "1" "22207811" "22207823" "del" "0" "02325" "HSPG2_000083" "g.22207811_22207823del" "" "" "" "HSPG2(NM_005529.7):c.1818+15_1818+27delCTGCCACCCTGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21881318_21881330del" "" "benign" "" "0000281438" "0" "10" "1" "22207235" "22207235" "subst" "0.994569" "02325" "HSPG2_000082" "g.22207235T>C" "" "" "" "HSPG2(NM_005529.7):c.1912A>G (p.M638V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21880742T>C" "" "benign" "" "0000281439" "0" "10" "1" "22206942" "22206942" "subst" "0.984972" "02325" "HSPG2_000079" "g.22206942G>A" "" "" "" "HSPG2(NM_005529.7):c.2109C>T (p.A703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21880449G>A" "" "benign" "" "0000281440" "0" "10" "1" "22206649" "22206649" "subst" "0.984943" "02325" "HSPG2_000077" "g.22206649T>C" "" "" "" "HSPG2(NM_005529.7):c.2294A>G (p.N765S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21880156T>C" "" "benign" "" "0000281441" "0" "10" "1" "22202109" "22202109" "subst" "0.98626" "02325" "HSPG2_000073" "g.22202109C>T" "" "" "" "HSPG2(NM_005529.7):c.3302+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21875616C>T" "" "benign" "" "0000281442" "0" "30" "1" "22200454" "22200454" "subst" "0.00166224" "02325" "HSPG2_000006" "g.22200454G>T" "" "" "" "HSPG2(NM_001291860.1):c.3710C>A (p.A1237E, p.(Ala1237Glu)), HSPG2(NM_001291860.2):c.3710C>A (p.A1237E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21873961G>T" "" "likely benign" "" "0000281443" "0" "10" "1" "22199245" "22199245" "subst" "0.557786" "02325" "HSPG2_000072" "g.22199245C>T" "" "" "" "HSPG2(NM_005529.7):c.3897G>A (p.V1299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21872752C>T" "" "benign" "" "0000281444" "0" "10" "1" "22216604" "22216604" "subst" "0.579611" "02325" "HSPG2_000088" "g.22216604C>G" "" "" "" "HSPG2(NM_005529.7):c.444G>C (p.L148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21890111C>G" "" "benign" "" "0000281445" "0" "10" "1" "22191454" "22191454" "subst" "0.731213" "02325" "HSPG2_000070" "g.22191454G>A" "" "" "" "HSPG2(NM_005529.7):c.4508C>T (p.A1503V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21864961G>A" "" "benign" "" "0000281446" "0" "10" "1" "22216574" "22216574" "subst" "0.579551" "02325" "HSPG2_000087" "g.22216574C>A" "" "" "" "HSPG2(NM_005529.7):c.474G>T (p.G158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21890081C>A" "" "benign" "" "0000281447" "0" "10" "1" "22174426" "22174426" "subst" "0.325932" "02325" "HSPG2_000047" "g.22174426T>G" "" "" "" "HSPG2(NM_005529.7):c.7873+25A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21847933T>G" "" "benign" "" "0000281448" "0" "10" "1" "22165987" "22165987" "subst" "0.170756" "02325" "HSPG2_000038" "g.22165987G>A" "" "" "" "HSPG2(NM_005529.7):c.9766C>T (p.H3256Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21839494G>A" "" "benign" "" "0000282198" "0" "10" "1" "22149935" "22149935" "subst" "0.808148" "02325" "HSPG2_000010" "g.22149935T>C" "" "" "" "HSPG2(NM_005529.7):c.13050A>G (p.S4350=), LDLRAD2(NM_001013693.3):c.*1227T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21823442T>C" "" "benign" "" "0000282199" "0" "10" "1" "22150120" "22150120" "subst" "0.182581" "02325" "HSPG2_000011" "g.22150120C>T" "" "" "" "HSPG2(NM_005529.7):c.12992G>A (p.S4331N), LDLRAD2(NM_001013693.3):c.*1412C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21823627C>T" "" "benign" "" "0000282200" "0" "10" "1" "22150160" "22150160" "subst" "0.179487" "02325" "HSPG2_000013" "g.22150160G>T" "" "" "" "HSPG2(NM_005529.7):c.12952C>A (p.R4318=), LDLRAD2(NM_001013693.3):c.*1452G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21823667G>T" "" "benign" "" "0000285141" "0" "90" "1" "22160419" "22160419" "subst" "5.35946E-6" "02326" "HSPG2_000027" "g.22160419C>G" "" "" "" "HSPG2(NM_001291860.2):c.10724-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21833926C>G" "" "pathogenic" "" "0000285142" "0" "30" "1" "22157464" "22157464" "subst" "0.000880755" "02326" "HSPG2_000023" "g.22157464G>A" "" "" "" "HSPG2(NM_005529.6):c.11671+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21830971G>A" "" "likely benign" "" "0000285143" "0" "10" "1" "22155353" "22155353" "subst" "0.0290578" "02326" "HSPG2_000020" "g.22155353G>A" "" "" "" "HSPG2(NM_005529.6):c.12212C>T (p.A4071V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21828860G>A" "" "benign" "" "0000285144" "0" "30" "1" "22207065" "22207065" "subst" "0.0127468" "02326" "HSPG2_000080" "g.22207065G>A" "" "" "" "HSPG2(NM_005529.6):c.1999-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21880572G>A" "" "likely benign" "" "0000285145" "0" "30" "1" "22202155" "22202155" "subst" "0.00457299" "02326" "HSPG2_000074" "g.22202155C>T" "" "" "" "HSPG2(NM_001291860.1):c.3272G>A (p.R1091Q, p.(Arg1091Gln)), HSPG2(NM_001291860.2):c.3272G>A (p.R1091Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21875662C>T" "" "likely benign" "" "0000285146" "0" "10" "1" "22182115" "22182115" "subst" "0.00622262" "02326" "HSPG2_000058" "g.22182115G>A" "" "" "" "HSPG2(NM_001291860.1):c.5758C>T (p.(Arg1920Cys)), HSPG2(NM_005529.6):c.5755C>T (p.R1919C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21855622G>A" "" "benign" "" "0000285147" "0" "10" "1" "22181483" "22181483" "subst" "0.0119051" "02326" "HSPG2_000056" "g.22181483T>C" "" "" "" "HSPG2(NM_001291860.1):c.6001-7A>G (p.(=)), HSPG2(NM_005529.6):c.5998-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21854990T>C" "" "benign" "" "0000285148" "0" "10" "1" "22181360" "22181360" "subst" "0.0189443" "02326" "HSPG2_000053" "g.22181360G>C" "" "" "" "HSPG2(NM_001291860.1):c.6117C>G (p.(Ile2039Met)), HSPG2(NM_005529.6):c.6114C>G (p.I2038M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21854867G>C" "" "benign" "" "0000285149" "0" "30" "1" "22176684" "22176684" "subst" "0.00630403" "02326" "HSPG2_000050" "g.22176684T>A" "" "" "" "HSPG2(NM_001291860.1):c.7299A>T (p.(Ala2433=)), HSPG2(NM_005529.6):c.7296A>T (p.A2432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21850191T>A" "" "likely benign" "" "0000285150" "0" "30" "1" "22172588" "22172588" "subst" "0.000619223" "02326" "HSPG2_000044" "g.22172588C>G" "" "" "" "HSPG2(NM_001291860.2):c.8467+13G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21846095C>G" "" "likely benign" "" "0000285151" "0" "10" "1" "22169325" "22169325" "subst" "0.0127629" "02326" "HSPG2_000042" "g.22169325C>T" "" "" "" "HSPG2(NM_001291860.1):c.8851G>A (p.(Gly2951Arg)), HSPG2(NM_005529.6):c.8848G>A (p.G2950R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21842832C>T" "" "benign" "" "0000285152" "0" "30" "1" "22168855" "22168855" "subst" "0.00980629" "02326" "HSPG2_000041" "g.22168855G>A" "" "" "" "HSPG2(NM_001291860.1):c.8932C>T (p.(Arg2978Trp)), HSPG2(NM_001291860.2):c.8932C>T (p.R2978W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21842362G>A" "" "likely benign" "" "0000285153" "0" "30" "1" "22165963" "22165963" "subst" "0.0113934" "02326" "HSPG2_000037" "g.22165963T>C" "" "" "" "HSPG2(NM_001291860.2):c.9793A>G (p.I3265V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21839470T>C" "" "likely benign" "" "0000289221" "0" "50" "1" "22163370" "22163370" "subst" "0.0008796" "01943" "HSPG2_000032" "g.22163370C>T" "" "" "" "HSPG2(NM_001291860.1):c.10283G>A (p.R3428Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21836877C>T" "" "VUS" "" "0000289222" "0" "10" "1" "22161394" "22161394" "subst" "0.00470319" "01943" "HSPG2_000031" "g.22161394C>T" "" "" "" "HSPG2(NM_001291860.1):c.10501G>A (p.V3501M, p.(Val3501Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21834901C>T" "" "benign" "" "0000289223" "0" "30" "1" "22156041" "22156041" "subst" "0.00146085" "01943" "HSPG2_000022" "g.22156041C>T" "" "" "" "HSPG2(NM_001291860.1):c.11830G>A (p.A3944T, p.(Ala3944Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21829548C>T" "" "likely benign" "" "0000289224" "0" "50" "1" "22211836" "22211836" "subst" "2.03115E-5" "01943" "HSPG2_000085" "g.22211836T>G" "" "" "" "HSPG2(NM_001291860.1):c.1187A>C (p.D396A), HSPG2(NM_005529.5):c.1187A>C (p.(Asp396Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21885343T>G" "" "VUS" "" "0000289225" "0" "30" "1" "22155345" "22155345" "subst" "0.00347461" "01943" "HSPG2_000019" "g.22155345G>A" "" "" "" "HSPG2(NM_001291860.1):c.12223C>T (p.R4075C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21828852G>A" "" "likely benign" "" "0000289226" "0" "10" "1" "22150813" "22150813" "subst" "0.00196233" "01943" "HSPG2_000016" "g.22150813C>A" "" "" "" "HSPG2(NM_001291860.1):c.12804G>T (p.G4268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21824320C>A" "" "benign" "" "0000289227" "0" "90" "1" "22207208" "22207208" "subst" "0" "01943" "HSPG2_000081" "g.22207208G>A" "" "" "" "HSPG2(NM_001291860.1):c.1942C>T (p.R648*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21880715G>A" "" "pathogenic" "" "0000289228" "0" "30" "1" "22206977" "22206977" "subst" "0.00287598" "01943" "HSPG2_000003" "g.22206977C>T" "" "" "" "HSPG2(NM_001291860.1):c.2077G>A (p.V693M, p.(Val693Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21880484C>T" "" "likely benign" "" "0000289229" "0" "30" "1" "22202835" "22202835" "subst" "9.83212E-5" "01943" "HSPG2_000076" "g.22202835T>A" "" "" "" "HSPG2(NM_001291860.1):c.2893A>T (p.T965S), HSPG2(NM_005529.7):c.2890A>T (p.(Thr964Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21876342T>A" "" "likely benign" "" "0000289230" "0" "30" "1" "22217107" "22217107" "subst" "4.06062E-6" "01943" "HSPG2_000092" "g.22217107G>C" "" "" "" "HSPG2(NM_001291860.1):c.325C>G (p.R109G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21890614G>C" "" "likely benign" "" "0000289231" "0" "50" "1" "22217095" "22217095" "subst" "0.000239578" "01943" "HSPG2_000091" "g.22217095C>T" "" "" "" "HSPG2(NM_001291860.1):c.337G>A (p.E113K), HSPG2(NM_005529.5):c.337G>A (p.(Glu113Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21890602C>T" "" "VUS" "" "0000289232" "0" "50" "1" "22216633" "22216633" "subst" "4.06187E-6" "01943" "HSPG2_000090" "g.22216633C>A" "" "" "" "HSPG2(NM_001291860.1):c.415G>T (p.E139*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21890140C>A" "" "VUS" "" "0000289233" "0" "50" "1" "22216632" "22216632" "subst" "4.06187E-6" "01943" "HSPG2_000089" "g.22216632T>A" "" "" "" "HSPG2(NM_001291860.1):c.416A>T (p.E139V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21890139T>A" "" "VUS" "" "0000289234" "0" "50" "1" "22186400" "22186400" "subst" "0" "01943" "HSPG2_000064" "g.22186400G>A" "" "" "" "HSPG2(NM_001291860.1):c.5113C>T (p.P1705S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21859907G>A" "" "VUS" "" "0000289235" "0" "10" "1" "22183641" "22183641" "subst" "0.0020429" "01943" "HSPG2_000061" "g.22183641C>T" "" "" "" "HSPG2(NM_001291860.1):c.5445G>A (p.L1815=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21857148C>T" "" "benign" "" "0000289236" "0" "30" "1" "22181903" "22181903" "subst" "9.44233E-5" "01943" "HSPG2_000057" "g.22181903C>T" "" "" "" "HSPG2(NM_001291860.1):c.5894G>A (p.R1965K, p.(Arg1965Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21855410C>T" "" "likely benign" "" "0000289237" "0" "30" "1" "22181369" "22181369" "subst" "0.000940776" "01943" "HSPG2_000054" "g.22181369C>T" "" "" "" "HSPG2(NM_001291860.1):c.6108G>A (p.Q2036=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21854876C>T" "" "likely benign" "" "0000289238" "0" "50" "1" "22181187" "22181187" "subst" "0.000104156" "01943" "HSPG2_000051" "g.22181187C>T" "" "" "" "HSPG2(NM_001291860.1):c.6208G>A (p.D2070N), HSPG2(NM_005529.5):c.6205G>A (p.(Asp2069Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21854694C>T" "" "VUS" "" "0000289239" "0" "30" "1" "22174278" "22174278" "subst" "4.07402E-6" "01943" "HSPG2_000046" "g.22174278T>C" "" "" "" "HSPG2(NM_001291860.1):c.7932A>G (p.E2644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21847785T>C" "" "likely benign" "" "0000289240" "0" "30" "1" "22173967" "22173967" "subst" "0.0017306" "01943" "HSPG2_000045" "g.22173967G>A" "" "" "" "HSPG2(NM_001291860.1):c.8047C>T (p.R2683W), HSPG2(NM_005529.5):c.8044C>T (p.(Arg2682Trp)), HSPG2(NM_005529.6):c.8044C>T (p.R2682W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21847474G>A" "" "likely benign" "" "0000320603" "0" "30" "1" "22150130" "22150130" "subst" "0.00234348" "01804" "HSPG2_000012" "g.22150130C>T" "" "" "" "HSPG2(NM_001291860.1):c.12985G>A (p.(Ala4329Thr)), HSPG2(NM_005529.6):c.12982G>A (p.A4328T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21823637C>T" "" "likely benign" "" "0000320604" "0" "30" "1" "22150639" "22150639" "subst" "0.00147216" "01804" "HSPG2_000014" "g.22150639C>T" "" "" "" "HSPG2(NM_005529.5):c.12874G>A (p.(Glu4292Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21824146C>T" "" "likely benign" "" "0000320605" "0" "30" "1" "22150795" "22150795" "subst" "0.00873501" "01804" "HSPG2_000015" "g.22150795C>T" "" "" "" "HSPG2(NM_001291860.1):c.12818+4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21824302C>T" "" "likely benign" "" "0000320606" "0" "30" "1" "22154901" "22154901" "subst" "0.000561624" "01804" "HSPG2_000018" "g.22154901G>A" "" "" "" "HSPG2(NM_005529.5):c.12256C>T (p.(Arg4086Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21828408G>A" "" "likely benign" "" "0000320608" "0" "30" "1" "22155886" "22155886" "subst" "0.000183756" "01804" "HSPG2_000021" "g.22155886C>A" "" "" "" "HSPG2(NM_001291860.1):c.11985G>T (p.(Glu3995Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21829393C>A" "" "likely benign" "" "0000320609" "0" "30" "1" "22161190" "22161190" "subst" "0.00236171" "01804" "HSPG2_000028" "g.22161190C>T" "" "" "" "HSPG2(NM_001291860.1):c.10705G>A (p.(Val3569Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21834697C>T" "" "likely benign" "" "0000320610" "0" "30" "1" "22161304" "22161304" "subst" "0.00100348" "01804" "HSPG2_000030" "g.22161304G>A" "" "" "" "HSPG2(NM_001291860.1):c.10591C>T (p.(Arg3531Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21834811G>A" "" "likely benign" "" "0000320612" "0" "50" "1" "22163446" "22163446" "subst" "0.000419339" "01804" "HSPG2_000034" "g.22163446C>T" "" "" "" "HSPG2(NM_001291860.1):c.10207G>A (p.V3403M), HSPG2(NM_005529.5):c.10204G>A (p.(Val3402Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21836953C>T" "" "VUS" "" "0000320613" "0" "70" "1" "22165921" "22165921" "subst" "4.06527E-6" "01804" "HSPG2_000036" "g.22165921A>C" "" "" "" "HSPG2(NM_005529.5):c.9832T>G (p.(Cys3278Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21839428A>C" "" "likely pathogenic" "" "0000320615" "0" "30" "1" "22168157" "22168157" "subst" "0" "01804" "HSPG2_000040" "g.22168157T>A" "" "" "" "HSPG2(NM_005529.5):c.9203A>T (p.(His3068Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21841664T>A" "" "likely benign" "" "0000320616" "0" "30" "1" "22169325" "22169325" "subst" "0.0127629" "01804" "HSPG2_000042" "g.22169325C>T" "" "" "" "HSPG2(NM_001291860.1):c.8851G>A (p.(Gly2951Arg)), HSPG2(NM_005529.6):c.8848G>A (p.G2950R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21842832C>T" "" "likely benign" "" "0000320617" "0" "50" "1" "22170681" "22170681" "subst" "0.000280442" "01804" "HSPG2_000043" "g.22170681G>A" "" "" "" "HSPG2(NM_005529.5):c.8576C>T (p.(Thr2859Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21844188G>A" "" "VUS" "" "0000320618" "0" "30" "1" "22176643" "22176643" "subst" "0.000431723" "01804" "HSPG2_000049" "g.22176643G>A" "" "" "" "HSPG2(NM_001291860.1):c.7340C>T (p.(Ser2447Leu)), HSPG2(NM_001291860.2):c.7340C>T (p.S2447L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21850150G>A" "" "likely benign" "" "0000320620" "0" "30" "1" "22181483" "22181483" "subst" "0.0119051" "01804" "HSPG2_000056" "g.22181483T>C" "" "" "" "HSPG2(NM_001291860.1):c.6001-7A>G (p.(=)), HSPG2(NM_005529.6):c.5998-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21854990T>C" "" "likely benign" "" "0000320621" "0" "30" "1" "22181903" "22181903" "subst" "9.44233E-5" "01804" "HSPG2_000057" "g.22181903C>T" "" "" "" "HSPG2(NM_001291860.1):c.5894G>A (p.R1965K, p.(Arg1965Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21855410C>T" "" "likely benign" "" "0000320625" "0" "50" "1" "22188295" "22188295" "subst" "5.71765E-5" "01804" "HSPG2_000066" "g.22188295C>T" "" "" "" "HSPG2(NM_001291860.1):c.4913G>A (p.(Arg1638His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21861802C>T" "" "VUS" "" "0000320626" "0" "30" "1" "22188328" "22188328" "subst" "0.0014308" "01804" "HSPG2_000067" "g.22188328C>T" "" "" "" "HSPG2(NM_001291860.1):c.4880G>A (p.(Arg1627His)), HSPG2(NM_005529.6):c.4877G>A (p.R1626H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21861835C>T" "" "likely benign" "" "0000320627" "0" "50" "1" "22191361" "22191361" "subst" "0.00140344" "01804" "HSPG2_000069" "g.22191361G>C" "" "" "" "HSPG2(NM_005529.5):c.4601C>G (p.(Pro1534Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21864868G>C" "" "VUS" "" "0000320629" "0" "50" "1" "22202727" "22202727" "subst" "1.29886E-5" "01804" "HSPG2_000075" "g.22202727C>T" "" "" "" "HSPG2(NM_001291860.1):c.3001G>A (p.(Asp1001Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21876234C>T" "" "VUS" "" "0000320630" "0" "70" "1" "22206855" "22206855" "subst" "0" "01804" "HSPG2_000078" "g.22206855C>A" "" "" "" "HSPG2(NM_005529.5):c.2195+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21880362C>A" "" "likely pathogenic" "" "0000320631" "0" "30" "1" "22211602" "22211602" "subst" "0.000221855" "01804" "HSPG2_000084" "g.22211602C>T" "" "" "" "HSPG2(NM_005529.7):c.1259G>A (p.(Arg420Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21885109C>T" "" "likely benign" "" "0000320632" "0" "30" "1" "22217095" "22217095" "subst" "0.000239578" "01804" "HSPG2_000091" "g.22217095C>T" "" "" "" "HSPG2(NM_001291860.1):c.337G>A (p.E113K), HSPG2(NM_005529.5):c.337G>A (p.(Glu113Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21890602C>T" "" "likely benign" "" "0000320633" "0" "30" "1" "22222758" "22222758" "subst" "0" "01804" "HSPG2_000093" "g.22222758C>T" "" "" "" "HSPG2(NM_005529.5):c.109G>A (p.(Asp37Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21896265C>T" "" "likely benign" "" "0000337523" "0" "90" "1" "22157474" "22157474" "subst" "0" "02327" "HSPG2_000094" "g.22157474C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21830981C>A" "" "pathogenic" "" "0000348322" "0" "50" "1" "22175189" "22175189" "subst" "1.62467E-5" "02327" "HSPG2_000097" "g.22175189G>A" "" "" "" "HSPG2(NM_005529.5):c.7684C>T (p.(Pro2562Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21848696G>A" "" "VUS" "" "0000351048" "0" "10" "1" "22157689" "22157689" "subst" "0.791629" "02327" "HSPG2_000024" "g.22157689G>A" "" "" "" "HSPG2(NM_005529.7):c.11562+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21831196G>A" "" "benign" "" "0000369271" "21" "70" "1" "22178283" "22178283" "subst" "8.12466E-6" "00006" "HSPG2_000098" "g.22178283C>T" "" "{PMID:Guissart 2018:29656859}" "" "" "" "Germline" "" "" "0" "" "" "g.21851790C>T" "" "likely pathogenic" "" "0000369272" "11" "50" "1" "22191782" "22191782" "subst" "0.000105578" "00006" "HSPG2_000099" "g.22191782C>T" "" "{PMID:Guissart 2018:29656859}" "" "" "" "Germline" "" "" "0" "" "" "g.21865289C>T" "" "VUS" "" "0000505498" "0" "50" "1" "22149840" "22149840" "subst" "0.000110335" "01943" "HSPG2_000100" "g.22149840G>T" "" "" "" "HSPG2(NM_001291860.1):c.13148C>A (p.A4383D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21823347G>T" "" "VUS" "" "0000505499" "0" "30" "1" "22149985" "22149985" "subst" "0" "01804" "HSPG2_000101" "g.22149985C>T" "" "" "" "HSPG2(NM_005529.5):c.13004-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21823492C>T" "" "likely benign" "" "0000505500" "0" "30" "1" "22150110" "22150110" "subst" "0" "01804" "HSPG2_000102" "g.22150110G>A" "" "" "" "HSPG2(NM_005529.5):c.13002C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21823617G>A" "" "likely benign" "" "0000505502" "0" "50" "1" "22154365" "22154365" "subst" "0.000198977" "01804" "HSPG2_000103" "g.22154365C>T" "" "" "" "HSPG2(NM_005529.5):c.12580G>A (p.(Gly4194Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21827872C>T" "" "VUS" "" "0000505503" "0" "30" "1" "22154568" "22154568" "subst" "5.70716E-5" "01804" "HSPG2_000104" "g.22154568G>A" "" "" "" "HSPG2(NM_005529.5):c.12487C>T (p.(Arg4163Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21828075G>A" "" "likely benign" "" "0000505505" "0" "30" "1" "22154828" "22154828" "subst" "1.21959E-5" "01804" "HSPG2_000106" "g.22154828C>T" "" "" "" "HSPG2(NM_005529.5):c.12329G>A (p.(Arg4110His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21828335C>T" "" "likely benign" "" "0000505506" "0" "30" "1" "22154873" "22154873" "subst" "0" "01804" "HSPG2_000107" "g.22154873C>T" "" "" "" "HSPG2(NM_005529.5):c.12284G>A (p.(Gly4095Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21828380C>T" "" "likely benign" "" "0000505509" "0" "30" "1" "22155909" "22155909" "subst" "0" "01804" "HSPG2_000109" "g.22155909C>T" "" "" "" "HSPG2(NM_005529.5):c.11959G>A (p.(Gly3987Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21829416C>T" "" "likely benign" "" "0000505511" "0" "30" "1" "22157470" "22157470" "subst" "0.00230399" "01804" "HSPG2_000111" "g.22157470C>T" "" "" "" "HSPG2(NM_005529.5):c.11671+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21830977C>T" "" "likely benign" "" "0000505512" "0" "30" "1" "22157498" "22157498" "subst" "9.50142E-5" "01804" "HSPG2_000112" "g.22157498G>C" "" "" "" "HSPG2(NM_005529.5):c.11648C>G (p.(Ser3883Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21831005G>C" "" "likely benign" "" "0000505513" "0" "30" "1" "22157538" "22157538" "subst" "0" "01804" "HSPG2_000113" "g.22157538C>T" "" "" "" "HSPG2(NM_005529.5):c.11608G>A (p.(Val3870Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21831045C>T" "" "likely benign" "" "0000505515" "0" "30" "1" "22157795" "22157795" "subst" "0.00270257" "01943" "HSPG2_000114" "g.22157795G>A" "" "" "" "HSPG2(NM_001291860.1):c.11478C>T (p.I3826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21831302G>A" "" "likely benign" "" "0000505516" "0" "30" "1" "22158006" "22158006" "subst" "0" "01804" "HSPG2_000115" "g.22158006T>C" "" "" "" "HSPG2(NM_005529.5):c.11402A>G (p.(Tyr3801Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21831513T>C" "" "likely benign" "" "0000505517" "0" "10" "1" "22159008" "22159008" "subst" "0.171332" "02325" "HSPG2_000116" "g.22159008C>A" "" "" "" "HSPG2(NM_005529.7):c.11187G>T (p.V3729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21832515C>A" "" "benign" "" "0000505518" "0" "30" "1" "22159062" "22159062" "subst" "4.06217E-6" "01943" "HSPG2_000117" "g.22159062C>T" "" "" "" "HSPG2(NM_001291860.1):c.11136G>A (p.G3712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21832569C>T" "" "likely benign" "" "0000505520" "0" "50" "1" "22159838" "22159838" "subst" "0.000113806" "01804" "HSPG2_000119" "g.22159838A>G" "" "" "" "HSPG2(NM_005529.7):c.11018T>C (p.(Phe3673Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21833345A>G" "" "VUS" "" "0000505522" "0" "30" "1" "22160001" "22160001" "subst" "0.0031777" "01804" "HSPG2_000121" "g.22160001C>T" "" "" "" "HSPG2(NM_001291860.1):c.10940G>A (p.(Arg3647His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21833508C>T" "" "likely benign" "" "0000505525" "0" "30" "1" "22161394" "22161394" "subst" "0.00470319" "01804" "HSPG2_000031" "g.22161394C>T" "" "" "" "HSPG2(NM_001291860.1):c.10501G>A (p.V3501M, p.(Val3501Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21834901C>T" "" "likely benign" "" "0000505526" "0" "10" "1" "22163402" "22163402" "subst" "0.0592593" "02326" "HSPG2_000123" "g.22163402G>A" "" "" "" "HSPG2(NM_005529.6):c.10248C>T (p.S3416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21836909G>A" "" "benign" "" "0000505528" "0" "50" "1" "22163475" "22163475" "subst" "0" "02325" "HSPG2_000125" "g.22163475G>A" "" "" "" "HSPG2(NM_001291860.2):c.10178C>T (p.T3393I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21836982G>A" "" "VUS" "" "0000505530" "0" "10" "1" "22165423" "22165423" "subst" "0.00146423" "01943" "HSPG2_000127" "g.22165423G>C" "" "" "" "HSPG2(NM_001291860.1):c.10048C>G (p.L3350V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21838930G>C" "" "benign" "" "0000505532" "0" "50" "1" "22165881" "22165881" "subst" "8.14857E-6" "01804" "HSPG2_000128" "g.22165881A>G" "" "" "" "HSPG2(NM_005529.5):c.9872T>C (p.(Ile3291Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21839388A>G" "" "VUS" "" "0000505535" "0" "10" "1" "22166021" "22166021" "subst" "0.00161059" "01943" "HSPG2_000130" "g.22166021G>A" "" "" "" "HSPG2(NM_001291860.1):c.9735C>T (p.H3245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21839528G>A" "" "benign" "" "0000505536" "0" "30" "1" "22166034" "22166034" "subst" "0.00224853" "01804" "HSPG2_000131" "g.22166034G>A" "" "" "" "HSPG2(NM_005529.5):c.9719C>T (p.(Ala3240Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21839541G>A" "" "likely benign" "" "0000505538" "0" "30" "1" "22167631" "22167631" "subst" "0.000275484" "01804" "HSPG2_000133" "g.22167631C>T" "" "" "" "HSPG2(NM_005529.5):c.9476G>A (p.(Arg3159Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21841138C>T" "" "likely benign" "" "0000505539" "0" "30" "1" "22167785" "22167785" "subst" "0.0335214" "01804" "HSPG2_000134" "g.22167785G>A" "" "" "" "HSPG2(NM_005529.5):c.9329-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21841292G>A" "" "likely benign" "" "0000505540" "0" "30" "1" "22167786" "22167786" "subst" "0.0335148" "01804" "HSPG2_000135" "g.22167786G>A" "" "" "" "HSPG2(NM_005529.5):c.9329-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21841293G>A" "" "likely benign" "" "0000505542" "0" "50" "1" "22168617" "22168617" "subst" "4.47762E-5" "01804" "HSPG2_000137" "g.22168617A>G" "" "" "" "HSPG2(NM_005529.5):c.9071T>C (p.(Ile3024Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21842124A>G" "" "VUS" "" "0000505543" "0" "50" "1" "22168822" "22168822" "subst" "6.95467E-5" "01804" "HSPG2_000138" "g.22168822C>T" "" "" "" "HSPG2(NM_005529.5):c.8962G>A (p.(Glu2988Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21842329C>T" "" "VUS" "" "0000505544" "0" "30" "1" "22168828" "22168828" "subst" "0" "01804" "HSPG2_000139" "g.22168828A>G" "" "" "" "HSPG2(NM_005529.5):c.8956T>C (p.(Ser2986Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21842335A>G" "" "likely benign" "" "0000505545" "0" "10" "1" "22168845" "22168845" "subst" "0.049528" "01804" "HSPG2_000140" "g.22168845A>T" "" "" "" "HSPG2(NM_005529.7):c.8939T>A (p.(Leu2980His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21842352A>T" "" "benign" "" "0000505546" "0" "30" "1" "22168855" "22168855" "subst" "0.00980629" "01804" "HSPG2_000041" "g.22168855G>A" "" "" "" "HSPG2(NM_001291860.1):c.8932C>T (p.(Arg2978Trp)), HSPG2(NM_001291860.2):c.8932C>T (p.R2978W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21842362G>A" "" "likely benign" "" "0000505547" "0" "30" "1" "22169334" "22169334" "subst" "8.12308E-6" "01804" "HSPG2_000141" "g.22169334C>T" "" "" "" "HSPG2(NM_005529.5):c.8839G>A (p.(Val2947Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21842841C>T" "" "likely benign" "" "0000505548" "0" "30" "1" "22170652" "22170652" "subst" "0.000333404" "01804" "HSPG2_000142" "g.22170652C>G" "" "" "" "HSPG2(NM_005529.5):c.8605G>C (p.(Ala2869Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21844159C>G" "" "likely benign" "" "0000505549" "0" "30" "1" "22170712" "22170712" "subst" "0.00277694" "01943" "HSPG2_000143" "g.22170712C>A" "" "" "" "HSPG2(NM_001291860.1):c.8548G>T (p.V2850L, p.(Val2850Leu)), HSPG2(NM_001291860.2):c.8548G>T (p.V2850L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21844219C>A" "" "likely benign" "" "0000505550" "0" "30" "1" "22170712" "22170712" "subst" "0.00277694" "02326" "HSPG2_000143" "g.22170712C>A" "" "" "" "HSPG2(NM_001291860.1):c.8548G>T (p.V2850L, p.(Val2850Leu)), HSPG2(NM_001291860.2):c.8548G>T (p.V2850L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21844219C>A" "" "likely benign" "" "0000505551" "0" "50" "1" "22170770" "22170770" "subst" "1.63196E-5" "01943" "HSPG2_000144" "g.22170770G>C" "" "" "" "HSPG2(NM_001291860.1):c.8490C>G (p.I2830M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21844277G>C" "" "VUS" "" "0000505553" "0" "30" "1" "22172685" "22172685" "subst" "2.86285E-5" "01804" "HSPG2_000146" "g.22172685G>A" "" "" "" "HSPG2(NM_005529.5):c.8380C>T (p.(Arg2794Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21846192G>A" "" "likely benign" "" "0000505554" "0" "30" "1" "22172735" "22172735" "subst" "0.000971974" "01804" "HSPG2_000147" "g.22172735C>T" "" "" "" "HSPG2(NM_005529.5):c.8330G>A (p.(Arg2777Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21846242C>T" "" "likely benign" "" "0000505555" "0" "50" "1" "22173045" "22173045" "subst" "5.68676E-5" "01804" "HSPG2_000148" "g.22173045C>T" "" "" "" "HSPG2(NM_001291860.1):c.8215G>A (p.V2739M), HSPG2(NM_005529.7):c.8212G>A (p.(Val2738Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21846552C>T" "" "VUS" "" "0000505556" "0" "30" "1" "22173854" "22173854" "subst" "2.84379E-5" "01943" "HSPG2_000149" "g.22173854G>A" "" "" "" "HSPG2(NM_001291860.1):c.8160C>T (p.S2720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21847361G>A" "" "likely benign" "" "0000505557" "0" "30" "1" "22173967" "22173967" "subst" "0.0017306" "01804" "HSPG2_000045" "g.22173967G>A" "" "" "" "HSPG2(NM_001291860.1):c.8047C>T (p.R2683W), HSPG2(NM_005529.5):c.8044C>T (p.(Arg2682Trp)), HSPG2(NM_005529.6):c.8044C>T (p.R2682W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21847474G>A" "" "likely benign" "" "0000505558" "0" "10" "1" "22173990" "22173990" "subst" "0.0497298" "01804" "HSPG2_000150" "g.22173990A>G" "" "" "" "HSPG2(NM_005529.7):c.8026-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21847497A>G" "" "benign" "" "0000505559" "0" "30" "1" "22174498" "22174498" "subst" "0.000353811" "01804" "HSPG2_000151" "g.22174498C>T" "" "" "" "HSPG2(NM_001291860.1):c.7829G>A (p.R2610Q), HSPG2(NM_005529.5):c.7826G>A (p.(Arg2609Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21848005C>T" "" "likely benign" "" "0000505560" "0" "50" "1" "22175164" "22175164" "subst" "0" "01804" "HSPG2_000152" "g.22175164C>A" "" "" "" "HSPG2(NM_005529.5):c.7709G>T (p.(Arg2570Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21848671C>A" "" "VUS" "" "0000505561" "0" "30" "1" "22175439" "22175439" "subst" "0.00329773" "01804" "HSPG2_000153" "g.22175439G>A" "" "" "" "HSPG2(NM_005529.7):c.7532C>T (p.(Thr2511Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21848946G>A" "" "likely benign" "" "0000505563" "0" "30" "1" "22176910" "22176910" "subst" "3.32876E-5" "01804" "HSPG2_000155" "g.22176910C>T" "" "" "" "HSPG2(NM_005529.5):c.7240G>A (p.(Val2414Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21850417C>T" "" "likely benign" "" "0000505564" "0" "50" "1" "22176957" "22176957" "subst" "0" "01804" "HSPG2_000156" "g.22176957G>A" "" "" "" "HSPG2(NM_005529.5):c.7193C>T (p.(Ser2398Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21850464G>A" "" "VUS" "" "0000505566" "0" "30" "1" "22179236" "22179236" "subst" "0" "01943" "HSPG2_000158" "g.22179236T>C" "" "" "" "HSPG2(NM_001291860.1):c.6684A>G (p.L2228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21852743T>C" "" "likely benign" "" "0000505567" "0" "10" "1" "22179244" "22179244" "subst" "0.0497799" "01804" "HSPG2_000159" "g.22179244C>T" "" "" "" "HSPG2(NM_005529.7):c.6673G>A (p.(Gly2225Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21852751C>T" "" "benign" "" "0000505568" "0" "30" "1" "22179419" "22179419" "subst" "0.000102607" "01804" "HSPG2_000160" "g.22179419C>T" "" "" "" "HSPG2(NM_005529.5):c.6584G>A (p.(Arg2195Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21852926C>T" "" "likely benign" "" "0000505569" "0" "30" "1" "22179462" "22179462" "subst" "0.0003794" "01804" "HSPG2_000161" "g.22179462C>T" "" "" "" "HSPG2(NM_005529.5):c.6541G>A (p.(Ala2181Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21852969C>T" "" "likely benign" "" "0000505571" "0" "30" "1" "22180697" "22180697" "subst" "0" "01943" "HSPG2_000163" "g.22180697C>T" "" "" "" "HSPG2(NM_001291860.1):c.6431G>A (p.S2144N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21854204C>T" "" "likely benign" "" "0000505572" "0" "50" "1" "22181256" "22181256" "subst" "0" "01943" "HSPG2_000164" "g.22181256A>G" "" "" "" "HSPG2(NM_001291860.1):c.6139T>C (p.S2047P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21854763A>G" "" "VUS" "" "0000505573" "0" "30" "1" "22181337" "22181337" "subst" "0.00215335" "01804" "HSPG2_000165" "g.22181337G>A" "" "" "" "HSPG2(NM_005529.5):c.6133+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21854844G>A" "" "likely benign" "" "0000505574" "0" "30" "1" "22181360" "22181360" "subst" "0.0189443" "01804" "HSPG2_000053" "g.22181360G>C" "" "" "" "HSPG2(NM_001291860.1):c.6117C>G (p.(Ile2039Met)), HSPG2(NM_005529.6):c.6114C>G (p.I2038M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21854867G>C" "" "likely benign" "" "0000505576" "0" "10" "1" "22181895" "22181895" "subst" "0.0491988" "01804" "HSPG2_000167" "g.22181895C>T" "" "" "" "HSPG2(NM_005529.7):c.5899G>A (p.(Val1967Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21855402C>T" "" "benign" "" "0000505578" "0" "30" "1" "22182115" "22182115" "subst" "0.00622262" "01804" "HSPG2_000058" "g.22182115G>A" "" "" "" "HSPG2(NM_001291860.1):c.5758C>T (p.(Arg1920Cys)), HSPG2(NM_005529.6):c.5755C>T (p.R1919C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21855622G>A" "" "likely benign" "" "0000505579" "0" "30" "1" "22182127" "22182127" "subst" "0.000104517" "01804" "HSPG2_000169" "g.22182127C>T" "" "" "" "HSPG2(NM_005529.5):c.5743G>A (p.(Gly1915Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21855634C>T" "" "likely benign" "" "0000505580" "0" "30" "1" "22182173" "22182173" "subst" "0.0286556" "01804" "HSPG2_000170" "g.22182173C>T" "" "" "" "HSPG2(NM_005529.5):c.5702-5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21855680C>T" "" "likely benign" "" "0000505581" "0" "50" "1" "22182333" "22182333" "subst" "0.0006621" "01943" "HSPG2_000171" "g.22182333G>A" "" "" "" "HSPG2(NM_001291860.1):c.5651C>T (p.A1884V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21855840G>A" "" "VUS" "" "0000505583" "0" "50" "1" "22183676" "22183676" "subst" "1.22779E-5" "01804" "HSPG2_000173" "g.22183676T>C" "" "" "" "HSPG2(NM_005529.7):c.5407A>G (p.(Thr1803Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21857183T>C" "" "VUS" "" "0000505587" "0" "30" "1" "22186375" "22186375" "subst" "1.6764E-5" "01804" "HSPG2_000177" "g.22186375C>T" "" "" "" "HSPG2(NM_005529.5):c.5135G>A (p.(Arg1712His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21859882C>T" "" "likely benign" "" "0000505588" "0" "30" "1" "22186395" "22186395" "subst" "5.07164E-5" "01943" "HSPG2_000178" "g.22186395G>C" "" "" "" "HSPG2(NM_001291860.1):c.5118C>G (p.P1706=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21859902G>C" "" "likely benign" "" "0000505590" "0" "50" "1" "22188296" "22188296" "subst" "0.000175389" "01943" "HSPG2_000180" "g.22188296G>A" "" "" "" "HSPG2(NM_001291860.1):c.4912C>T (p.R1638C), HSPG2(NM_005529.7):c.4909C>T (p.(Arg1637Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21861803G>A" "" "VUS" "" "0000505592" "0" "30" "1" "22190709" "22190709" "del" "0.0022593" "01804" "HSPG2_000068" "g.22190709del" "" "" "" "HSPG2(NM_001291860.2):c.4630-3delT, HSPG2(NM_005529.5):c.4627-3del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21864216del" "" "likely benign" "" "0000505593" "0" "30" "1" "22191394" "22191394" "subst" "0.000238116" "01804" "HSPG2_000181" "g.22191394C>T" "" "" "" "HSPG2(NM_005529.5):c.4568G>A (p.(Arg1523His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21864901C>T" "" "likely benign" "" "0000505594" "0" "30" "1" "22191443" "22191443" "subst" "0" "01804" "HSPG2_000182" "g.22191443T>C" "" "" "" "HSPG2(NM_005529.5):c.4519A>G (p.(Ser1507Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21864950T>C" "" "likely benign" "" "0000505595" "0" "50" "1" "22191473" "22191473" "subst" "0.00160879" "01943" "HSPG2_000183" "g.22191473A>T" "" "" "" "HSPG2(NM_001291860.1):c.4492T>A (p.F1498I, p.(Phe1498Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21864980A>T" "" "VUS" "" "0000505597" "0" "50" "1" "22191856" "22191856" "subst" "4.06118E-6" "01804" "HSPG2_000185" "g.22191856G>A" "" "" "" "HSPG2(NM_005529.5):c.4317C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21865363G>A" "" "VUS" "" "0000505598" "0" "30" "1" "22199175" "22199175" "subst" "0.00150685" "01804" "HSPG2_000186" "g.22199175G>C" "" "" "" "HSPG2(NM_005529.5):c.3967C>G (p.(Leu1323Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21872682G>C" "" "likely benign" "" "0000505599" "0" "30" "1" "22199482" "22199482" "subst" "8.22822E-6" "01804" "HSPG2_000187" "g.22199482G>A" "" "" "" "HSPG2(NM_005529.5):c.3888+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21872989G>A" "" "likely benign" "" "0000505600" "0" "30" "1" "22200454" "22200454" "subst" "2.60403E-5" "01804" "HSPG2_000188" "g.22200454G>A" "" "" "" "HSPG2(NM_001291860.1):c.3710C>T (p.A1237V), HSPG2(NM_005529.5):c.3707C>T (p.(Ala1236Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21873961G>A" "" "likely benign" "" "0000505601" "0" "30" "1" "22200454" "22200454" "subst" "0.00166224" "01804" "HSPG2_000006" "g.22200454G>T" "" "" "" "HSPG2(NM_001291860.1):c.3710C>A (p.A1237E, p.(Ala1237Glu)), HSPG2(NM_001291860.2):c.3710C>A (p.A1237E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21873961G>T" "" "likely benign" "" "0000505602" "0" "30" "1" "22200473" "22200473" "subst" "0.0327633" "01804" "HSPG2_000189" "g.22200473C>T" "" "" "" "HSPG2(NM_005529.5):c.3688G>A (p.(Gly1230Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21873980C>T" "" "likely benign" "" "0000505603" "0" "30" "1" "22200998" "22200998" "subst" "0.033989" "01804" "HSPG2_000190" "g.22200998C>T" "" "" "" "HSPG2(NM_005529.5):c.3557G>A (p.(Arg1186Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21874505C>T" "" "likely benign" "" "0000505606" "0" "30" "1" "22202483" "22202483" "subst" "0.00658194" "01804" "HSPG2_000001" "g.22202483G>A" "" "" "" "HSPG2(NM_005529.5):c.3056C>T (p.(Pro1019Leu)), HSPG2(NM_005529.6):c.3056C>T (p.P1019L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21875990G>A" "" "likely benign" "" "0000505607" "0" "30" "1" "22202856" "22202856" "subst" "0.00409657" "01804" "HSPG2_000192" "g.22202856T>G" "" "" "" "HSPG2(NM_001291860.1):c.2872A>C (p.(Asn958His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21876363T>G" "" "likely benign" "" "0000505609" "0" "30" "1" "22203076" "22203076" "subst" "4.06253E-6" "01804" "HSPG2_000194" "g.22203076C>T" "" "" "" "HSPG2(NM_005529.5):c.2755G>A (p.(Asp919Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21876583C>T" "" "likely benign" "" "0000505610" "0" "50" "1" "22203106" "22203106" "subst" "0.000706702" "01804" "HSPG2_000195" "g.22203106C>T" "" "" "" "HSPG2(NM_001291860.1):c.2728G>A (p.(Gly910Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21876613C>T" "" "VUS" "" "0000505612" "0" "30" "1" "22204947" "22204947" "subst" "0.0010903" "01804" "HSPG2_000197" "g.22204947C>T" "" "" "" "HSPG2(NM_005529.5):c.2596G>A (p.(Gly866Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21878454C>T" "" "likely benign" "" "0000505613" "0" "30" "1" "22205079" "22205079" "subst" "0.000317468" "01804" "HSPG2_000198" "g.22205079C>T" "" "" "" "HSPG2(NM_005529.5):c.2549G>A (p.(Arg850His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21878586C>T" "" "likely benign" "" "0000505614" "0" "50" "1" "22205107" "22205107" "subst" "0" "01943" "HSPG2_000199" "g.22205107C>A" "" "" "" "HSPG2(NM_001291860.1):c.2524G>T (p.A842S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21878614C>A" "" "VUS" "" "0000505615" "0" "50" "1" "22205491" "22205491" "subst" "8.13941E-6" "01943" "HSPG2_000200" "g.22205491G>A" "" "" "" "HSPG2(NM_001291860.1):c.2470C>T (p.R824C), HSPG2(NM_005529.7):c.2467C>T (p.(Arg823Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21878998G>A" "" "VUS" "" "0000505616" "0" "30" "1" "22205601" "22205601" "subst" "0.00641229" "01804" "HSPG2_000005" "g.22205601T>C" "" "" "" "HSPG2(NM_001291860.1):c.2360A>G (p.(Asn787Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21879108T>C" "" "likely benign" "" "0000505617" "0" "30" "1" "22207002" "22207002" "subst" "8.16587E-6" "01943" "HSPG2_000201" "g.22207002C>T" "" "" "" "HSPG2(NM_001291860.1):c.2052G>A (p.L684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21880509C>T" "" "likely benign" "" "0000505619" "0" "50" "1" "22207244" "22207244" "subst" "0" "01804" "HSPG2_000203" "g.22207244C>T" "" "" "" "HSPG2(NM_005529.5):c.1903G>A (p.(Val635Met)), HSPG2(NM_005529.7):c.1903G>A (p.V635M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21880751C>T" "" "VUS" "" "0000505620" "0" "30" "1" "22207295" "22207295" "subst" "0" "01804" "HSPG2_000204" "g.22207295C>T" "" "" "" "HSPG2(NM_005529.5):c.1852G>A (p.(Val618Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21880802C>T" "" "likely benign" "" "0000505621" "0" "50" "1" "22207304" "22207304" "subst" "0" "01804" "HSPG2_000205" "g.22207304G>A" "" "" "" "HSPG2(NM_005529.5):c.1843C>T (p.(Arg615Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21880811G>A" "" "VUS" "" "0000505622" "0" "50" "1" "22211047" "22211047" "subst" "1.22646E-5" "01943" "HSPG2_000206" "g.22211047C>T" "" "" "" "HSPG2(NM_001291860.1):c.1631G>A (p.R544H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21884554C>T" "" "VUS" "" "0000505625" "0" "90" "1" "22211594" "22211597" "del" "0" "02325" "HSPG2_000209" "g.22211594_22211597del" "" "" "" "HSPG2(NM_001291860.2):c.1267_1270delACAG (p.T423*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21885101_21885104del" "" "pathogenic" "" "0000505626" "0" "30" "1" "22211623" "22211623" "subst" "0.00312921" "01943" "HSPG2_000210" "g.22211623C>T" "" "" "" "HSPG2(NM_001291860.1):c.1238G>A (p.R413Q, p.(Arg413Gln)), HSPG2(NM_001291860.2):c.1238G>A (p.R413Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21885130C>T" "" "likely benign" "" "0000505627" "0" "30" "1" "22211623" "22211623" "subst" "0.00312921" "01804" "HSPG2_000210" "g.22211623C>T" "" "" "" "HSPG2(NM_001291860.1):c.1238G>A (p.R413Q, p.(Arg413Gln)), HSPG2(NM_001291860.2):c.1238G>A (p.R413Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21885130C>T" "" "likely benign" "" "0000505629" "0" "30" "1" "22211941" "22211941" "subst" "0.00447997" "01804" "HSPG2_000211" "g.22211941G>T" "" "" "" "HSPG2(NM_001291860.1):c.1082C>A (p.T361N, p.(Thr361Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21885448G>T" "" "likely benign" "" "0000505630" "0" "30" "1" "22213970" "22213970" "subst" "0" "01804" "HSPG2_000212" "g.22213970C>T" "" "" "" "HSPG2(NM_005529.5):c.901G>A (p.(Asp301Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21887477C>T" "" "likely benign" "" "0000505632" "0" "10" "1" "22217108" "22217108" "subst" "0.989085" "02325" "HSPG2_000214" "g.22217108G>A" "" "" "" "HSPG2(NM_005529.7):c.324C>T (p.F108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21890615G>A" "" "benign" "" "0000505633" "0" "30" "1" "22222455" "22222455" "subst" "0.00212948" "01804" "HSPG2_000215" "g.22222455G>T" "" "" "" "HSPG2(NM_001291860.1):c.204C>A (p.D68E, p.(Asp68Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21895962G>T" "" "likely benign" "" "0000605197" "0" "30" "1" "22159072" "22159072" "subst" "1.21879E-5" "01804" "HSPG2_000222" "g.22159072C>T" "" "" "" "HSPG2(NM_001291860.1):c.11126G>A (p.(Arg3709Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21832579C>T" "" "likely benign" "" "0000605198" "0" "30" "1" "22176643" "22176643" "subst" "0.000431723" "02326" "HSPG2_000049" "g.22176643G>A" "" "" "" "HSPG2(NM_001291860.1):c.7340C>T (p.(Ser2447Leu)), HSPG2(NM_001291860.2):c.7340C>T (p.S2447L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21850150G>A" "" "likely benign" "" "0000605199" "0" "30" "1" "22176684" "22176684" "subst" "0.00630403" "01804" "HSPG2_000050" "g.22176684T>A" "" "" "" "HSPG2(NM_001291860.1):c.7299A>T (p.(Ala2433=)), HSPG2(NM_005529.6):c.7296A>T (p.A2432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21850191T>A" "" "likely benign" "" "0000605201" "0" "30" "1" "22179315" "22179315" "subst" "6.99963E-5" "01804" "HSPG2_000229" "g.22179315G>A" "" "" "" "HSPG2(NM_005529.5):c.6602C>T (p.(Ser2201Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21852822G>A" "" "likely benign" "" "0000605202" "0" "30" "1" "22181251" "22181251" "subst" "0.000570519" "01943" "HSPG2_000230" "g.22181251A>G" "" "" "" "HSPG2(NM_001291860.1):c.6144T>C (p.D2048=), HSPG2(NM_005529.6):c.6141T>C (p.D2047=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21854758A>G" "" "likely benign" "" "0000605203" "0" "30" "1" "22183538" "22183538" "subst" "0" "01804" "HSPG2_000232" "g.22183538C>T" "" "" "" "HSPG2(NM_005529.5):c.5545G>A (p.(Asp1849Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21857045C>T" "" "likely benign" "" "0000605204" "0" "30" "1" "22188289" "22188289" "subst" "0.00144403" "01804" "HSPG2_000233" "g.22188289G>A" "" "" "" "HSPG2(NM_001291860.1):c.4919C>T (p.T1640M, p.(Thr1640Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21861796G>A" "" "likely benign" "" "0000605205" "0" "50" "1" "22201132" "22201132" "subst" "4.09591E-6" "01943" "HSPG2_000191" "g.22201132C>T" "" "" "" "HSPG2(NM_001291860.1):c.3508G>A (p.E1170K), HSPG2(NM_001291860.2):c.3508G>A (p.E1170K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21874639C>T" "" "VUS" "" "0000605206" "0" "90" "1" "22202421" "22202422" "dup" "0" "02327" "HSPG2_000234" "g.22202421_22202422dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21875928_21875929dup" "" "pathogenic" "" "0000605207" "0" "30" "1" "22206608" "22206608" "subst" "0.00088556" "01943" "HSPG2_000237" "g.22206608G>A" "" "" "" "HSPG2(NM_001291860.1):c.2338C>T (p.H780Y), HSPG2(NM_001291860.2):c.2338C>T (p.H780Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21880115G>A" "" "likely benign" "" "0000605208" "0" "50" "1" "22206608" "22206608" "subst" "0.00088556" "02326" "HSPG2_000237" "g.22206608G>A" "" "" "" "HSPG2(NM_001291860.1):c.2338C>T (p.H780Y), HSPG2(NM_001291860.2):c.2338C>T (p.H780Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21880115G>A" "" "VUS" "" "0000605209" "0" "30" "1" "22214126" "22214126" "subst" "0.00027919" "01804" "HSPG2_000238" "g.22214126C>T" "" "" "" "HSPG2(NM_005529.5):c.745G>A (p.(Val249Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21887633C>T" "" "likely benign" "" "0000605210" "0" "30" "1" "22214139" "22214139" "subst" "0.000497022" "01943" "HSPG2_000239" "g.22214139T>C" "" "" "" "HSPG2(NM_001291860.1):c.732A>G (p.T244=), HSPG2(NM_005529.6):c.732A>G (p.T244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21887646T>C" "" "likely benign" "" "0000620509" "0" "50" "1" "22155506" "22155506" "subst" "0" "01943" "HSPG2_000217" "g.22155506C>T" "" "" "" "HSPG2(NM_001291860.1):c.12062G>A (p.R4021H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21829013C>T" "" "VUS" "" "0000620510" "0" "30" "1" "22155910" "22155910" "subst" "0.000142716" "01943" "HSPG2_000218" "g.22155910G>A" "" "" "" "HSPG2(NM_001291860.1):c.11961C>T (p.G3987=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21829417G>A" "" "likely benign" "" "0000620511" "0" "30" "1" "22157768" "22157768" "subst" "8.12704E-6" "01943" "HSPG2_000219" "g.22157768G>A" "" "" "" "HSPG2(NM_001291860.1):c.11505C>T (p.D3835=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21831275G>A" "" "likely benign" "" "0000620512" "0" "50" "1" "22158255" "22158255" "subst" "0" "01943" "HSPG2_000220" "g.22158255G>A" "" "" "" "HSPG2(NM_001291860.1):c.11245C>T (p.H3749Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21831762G>A" "" "VUS" "" "0000620513" "0" "50" "1" "22167674" "22167674" "subst" "1.22082E-5" "01943" "HSPG2_000223" "g.22167674G>A" "" "" "" "HSPG2(NM_001291860.1):c.9436C>T (p.R3146C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21841181G>A" "" "VUS" "" "0000620514" "0" "30" "1" "22172608" "22172608" "subst" "5.31059E-5" "01943" "HSPG2_000224" "g.22172608G>A" "" "" "" "HSPG2(NM_001291860.1):c.8460C>T (p.H2820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21846115G>A" "" "likely benign" "" "0000620515" "0" "50" "1" "22173003" "22173003" "subst" "0.00010969" "01943" "HSPG2_000225" "g.22173003C>T" "" "" "" "HSPG2(NM_001291860.1):c.8257G>A (p.G2753R), HSPG2(NM_005529.7):c.8254G>A (p.(Gly2752Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21846510C>T" "" "VUS" "" "0000620516" "0" "50" "1" "22174498" "22174498" "subst" "0.000353811" "01943" "HSPG2_000151" "g.22174498C>T" "" "" "" "HSPG2(NM_001291860.1):c.7829G>A (p.R2610Q), HSPG2(NM_005529.5):c.7826G>A (p.(Arg2609Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21848005C>T" "" "VUS" "" "0000620517" "0" "50" "1" "22176921" "22176944" "del" "0" "01943" "HSPG2_000226" "g.22176921_22176944del" "" "" "" "HSPG2(NM_001291860.1):c.7213_7236delGAGTACGTGTGCCGAGTGTTGGGC (p.E2405_G2412del), HSPG2(NM_005529.7):c.7210_7233del (p.(Glu2404_Gly2411del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21850428_21850451del" "" "VUS" "" "0000620518" "0" "30" "1" "22179288" "22179288" "subst" "1.22921E-5" "01943" "HSPG2_000228" "g.22179288G>A" "" "" "" "HSPG2(NM_001291860.1):c.6632C>T (p.P2211L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21852795G>A" "" "likely benign" "" "0000620520" "0" "30" "1" "22186350" "22186350" "subst" "0.00103289" "01943" "HSPG2_000176" "g.22186350G>A" "" "" "" "HSPG2(NM_001291860.1):c.5163C>T (p.S1721=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21859857G>A" "" "likely benign" "" "0000620521" "0" "30" "1" "22200454" "22200454" "subst" "2.60403E-5" "01943" "HSPG2_000188" "g.22200454G>A" "" "" "" "HSPG2(NM_001291860.1):c.3710C>T (p.A1237V), HSPG2(NM_005529.5):c.3707C>T (p.(Ala1236Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21873961G>A" "" "likely benign" "" "0000620522" "0" "50" "1" "22202510" "22202510" "subst" "1.21962E-5" "01943" "HSPG2_000235" "g.22202510C>T" "" "" "" "HSPG2(NM_001291860.1):c.3032G>A (p.R1011H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21876017C>T" "" "VUS" "" "0000620523" "0" "50" "1" "22202759" "22202759" "subst" "2.05101E-5" "01943" "HSPG2_000236" "g.22202759T>C" "" "" "" "HSPG2(NM_001291860.1):c.2969A>G (p.Y990C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21876266T>C" "" "VUS" "" "0000647582" "1" "30" "1" "22155353" "22155353" "subst" "0.0290578" "03575" "HSPG2_000020" "g.22155353G>A" "100/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "100 heterozygous; {DB:CLININrs74859884}" "Germline" "" "rs74859884" "0" "" "" "g.21828860G>A" "" "likely benign" "" "0000647583" "1" "10" "1" "22161394" "22161394" "subst" "0.00470319" "03575" "HSPG2_000031" "g.22161394C>T" "18/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs143543800}" "Germline" "" "rs143543800" "0" "" "" "g.21834901C>T" "" "benign" "" "0000647584" "1" "30" "1" "22165963" "22165963" "subst" "0.0113934" "03575" "HSPG2_000037" "g.22165963T>C" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs139500146}" "Germline" "" "rs139500146" "0" "" "" "g.21839470T>C" "" "likely benign" "" "0000647586" "1" "50" "1" "22169325" "22169325" "subst" "0.0127629" "03575" "HSPG2_000042" "g.22169325C>T" "47/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 47 heterozygous, no homozygous; {DB:CLININrs41266007}" "Germline" "" "rs41266007" "0" "" "" "g.21842832C>T" "" "VUS" "" "0000647588" "1" "50" "1" "22178355" "22178355" "subst" "6.52864E-5" "03575" "HSPG2_000240" "g.22178355C>T" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs151178822}" "Germline" "" "rs151178822" "0" "" "" "g.21851862C>T" "" "VUS" "" "0000647589" "1" "50" "1" "22191473" "22191473" "subst" "0.00160879" "03575" "HSPG2_000183" "g.22191473A>T" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs138460117}" "Germline" "" "rs138460117" "0" "" "" "g.21864980A>T" "" "VUS" "" "0000647590" "1" "50" "1" "22192290" "22192290" "subst" "0.000122092" "03575" "HSPG2_000241" "g.22192290C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs146184130}" "Germline" "" "rs146184130" "0" "" "" "g.21865797C>T" "" "VUS" "" "0000647591" "1" "30" "1" "22205496" "22205496" "subst" "0.000504315" "03575" "HSPG2_000242" "g.22205496G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs141901178}" "Germline" "" "rs141901178" "0" "" "" "g.21879003G>A" "" "likely benign" "" "0000647592" "1" "50" "1" "22205601" "22205601" "subst" "0.00641229" "03575" "HSPG2_000005" "g.22205601T>C" "20/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "20 heterozygous, no homozygous; {DB:CLININrs143736974}" "Germline" "" "rs143736974" "0" "" "" "g.21879108T>C" "" "VUS" "" "0000647593" "1" "50" "1" "22206977" "22206977" "subst" "0.00287598" "03575" "HSPG2_000003" "g.22206977C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs143669458}" "Germline" "" "rs143669458" "0" "" "" "g.21880484C>T" "" "VUS" "" "0000653902" "0" "50" "1" "22154364" "22154364" "subst" "0" "01943" "HSPG2_000243" "g.22154364C>A" "" "" "" "HSPG2(NM_001291860.1):c.12584G>T (p.G4195V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21827871C>A" "" "VUS" "" "0000653903" "0" "30" "1" "22168069" "22168069" "subst" "5.28056E-5" "01943" "HSPG2_000244" "g.22168069G>A" "" "" "" "HSPG2(NM_001291860.1):c.9294C>T (p.Y3098=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21841576G>A" "" "likely benign" "" "0000653904" "0" "30" "1" "22169397" "22169397" "subst" "2.03229E-5" "01943" "HSPG2_000245" "g.22169397G>T" "" "" "" "HSPG2(NM_001291860.1):c.8779C>A (p.P2927T), HSPG2(NM_005529.5):c.8776C>A (p.(Pro2926Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21842904G>T" "" "likely benign" "" "0000653906" "0" "30" "1" "22170712" "22170712" "subst" "0.00277694" "01804" "HSPG2_000143" "g.22170712C>A" "" "" "" "HSPG2(NM_001291860.1):c.8548G>T (p.V2850L, p.(Val2850Leu)), HSPG2(NM_001291860.2):c.8548G>T (p.V2850L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21844219C>A" "" "likely benign" "" "0000653907" "0" "50" "1" "22176934" "22176934" "subst" "0" "01804" "HSPG2_000246" "g.22176934C>T" "" "" "" "HSPG2(NM_005529.5):c.7216G>A (p.(Val2406Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21850441C>T" "" "VUS" "" "0000653908" "0" "30" "1" "22198673" "22198673" "subst" "0" "01804" "HSPG2_000247" "g.22198673G>A" "" "" "" "HSPG2(NM_005529.5):c.4221+6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21872180G>A" "" "likely benign" "" "0000653910" "0" "30" "1" "22201461" "22201461" "subst" "2.99522E-5" "01943" "HSPG2_000249" "g.22201461C>T" "" "" "" "HSPG2(NM_001291860.1):c.3340G>A (p.E1114K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21874968C>T" "" "likely benign" "" "0000653911" "0" "30" "1" "22211623" "22211623" "subst" "0.00312921" "02326" "HSPG2_000210" "g.22211623C>T" "" "" "" "HSPG2(NM_001291860.1):c.1238G>A (p.R413Q, p.(Arg413Gln)), HSPG2(NM_001291860.2):c.1238G>A (p.R413Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21885130C>T" "" "likely benign" "" "0000653912" "0" "50" "1" "22213964" "22213964" "subst" "4.06683E-6" "01943" "HSPG2_000250" "g.22213964G>A" "" "" "" "HSPG2(NM_001291860.1):c.907C>T (p.L303F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21887471G>A" "" "VUS" "" "0000669001" "3" "30" "1" "22155353" "22155353" "subst" "0.0290578" "03575" "HSPG2_000020" "g.22155353G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs74859884}" "Germline" "" "rs74859884" "0" "" "" "g.21828860G>A" "" "likely benign" "" "0000675667" "0" "50" "1" "22166460" "22166460" "subst" "0.000670089" "01804" "HSPG2_000251" "g.22166460C>G" "" "" "" "HSPG2(NM_001291860.1):c.9567G>C (p.Q3189H, p.(Gln3189His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675668" "0" "50" "1" "22169270" "22169270" "subst" "9.38094E-5" "01943" "HSPG2_000252" "g.22169270C>T" "" "" "" "HSPG2(NM_001291860.1):c.8906G>A (p.R2969Q), HSPG2(NM_005529.5):c.8903G>A (p.(Arg2968Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675669" "0" "50" "1" "22172684" "22172684" "subst" "0.000286285" "01943" "HSPG2_000253" "g.22172684C>T" "" "" "" "HSPG2(NM_001291860.1):c.8384G>A (p.R2795Q), HSPG2(NM_005529.5):c.8381G>A (p.(Arg2794Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675670" "0" "30" "1" "22178101" "22178101" "subst" "0.00077168" "01943" "HSPG2_000254" "g.22178101C>T" "" "" "" "HSPG2(NM_001291860.1):c.7099G>A (p.G2367R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675671" "0" "50" "1" "22182165" "22182165" "subst" "0.000612095" "01943" "HSPG2_000255" "g.22182165C>T" "" "" "" "HSPG2(NM_001291860.1):c.5708G>A (p.G1903D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675672" "0" "30" "1" "22188288" "22188288" "subst" "0" "01943" "HSPG2_000256" "g.22188288C>G" "" "" "" "HSPG2(NM_001291860.1):c.4920G>C (p.T1640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675673" "0" "30" "1" "22207943" "22207943" "subst" "4.06263E-6" "01943" "HSPG2_000257" "g.22207943C>G" "" "" "" "HSPG2(NM_001291860.1):c.1710G>C (p.T570=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688029" "0" "30" "1" "22150131" "22150131" "subst" "8.13676E-6" "01943" "HSPG2_000258" "g.22150131G>A" "" "" "" "HSPG2(NM_001291860.1):c.12984C>T (p.N4328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688030" "0" "50" "1" "22158219" "22158219" "subst" "7.55972E-5" "01804" "HSPG2_000259" "g.22158219C>T" "" "" "" "HSPG2(NM_001291860.1):c.11281G>A (p.(Val3761Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688031" "0" "50" "1" "22159779" "22159779" "subst" "0.000129993" "01804" "HSPG2_000260" "g.22159779G>A" "" "" "" "HSPG2(NM_001291860.1):c.11080C>T (p.(Arg3694Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688032" "0" "30" "1" "22161215" "22161215" "subst" "0.00255533" "01943" "HSPG2_000261" "g.22161215G>A" "" "" "" "HSPG2(NM_001291860.1):c.10680C>T (p.N3560=), HSPG2(NM_005529.6):c.10677C>T (p.N3559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688033" "0" "30" "1" "22175143" "22175143" "subst" "2.03173E-5" "01943" "HSPG2_000262" "g.22175143C>T" "" "" "" "HSPG2(NM_001291860.1):c.7733G>A (p.R2578Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688034" "0" "30" "1" "22176959" "22176959" "subst" "0.00309496" "02326" "HSPG2_000263" "g.22176959C>T" "" "" "" "HSPG2(NM_001291860.2):c.7194G>A (p.A2398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688035" "0" "30" "1" "22199925" "22199925" "subst" "0.000223343" "02326" "HSPG2_000264" "g.22199925G>A" "" "" "" "HSPG2(NM_001291860.2):c.3747-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699708" "0" "50" "1" "22199381" "22199381" "subst" "0" "00006" "HSPG2_000265" "g.22199381C>A" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000717178" "0" "30" "1" "22150130" "22150130" "subst" "0.00234348" "02326" "HSPG2_000012" "g.22150130C>T" "" "" "" "HSPG2(NM_001291860.1):c.12985G>A (p.(Ala4329Thr)), HSPG2(NM_005529.6):c.12982G>A (p.A4328T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717179" "0" "50" "1" "22150629" "22150629" "subst" "0.000653312" "01943" "HSPG2_000266" "g.22150629C>T" "" "" "" "HSPG2(NM_001291860.1):c.12887G>A (p.R4296Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717180" "0" "30" "1" "22154629" "22154629" "subst" "9.38745E-5" "01943" "HSPG2_000267" "g.22154629G>A" "" "" "" "HSPG2(NM_001291860.1):c.12429C>T (p.H4143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717181" "0" "30" "1" "22155493" "22155493" "subst" "0.000955459" "01943" "HSPG2_000268" "g.22155493G>A" "" "" "" "HSPG2(NM_001291860.1):c.12075C>T (p.D4025=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717182" "0" "50" "1" "22159040" "22159040" "subst" "2.03105E-5" "02325" "HSPG2_000270" "g.22159040G>A" "" "" "" "HSPG2(NM_005529.7):c.11155C>T (p.R3719W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717183" "0" "50" "1" "22165341" "22165341" "subst" "0" "01804" "HSPG2_000273" "g.22165341G>T" "" "" "" "HSPG2(NM_005529.5):c.10127C>A (p.(Ala3376Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717184" "0" "50" "1" "22165894" "22165894" "subst" "2.44198E-5" "01943" "HSPG2_000275" "g.22165894C>T" "" "" "" "HSPG2(NM_001291860.1):c.9862G>A (p.A3288T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717185" "0" "50" "1" "22166460" "22166460" "subst" "0.000670089" "01943" "HSPG2_000251" "g.22166460C>G" "" "" "" "HSPG2(NM_001291860.1):c.9567G>C (p.Q3189H, p.(Gln3189His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717186" "0" "50" "1" "22168734" "22168734" "subst" "0" "02325" "HSPG2_000276" "g.22168734T>C" "" "" "" "HSPG2(NM_005529.7):c.9050A>G (p.Y3017C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717187" "0" "50" "1" "22169397" "22169397" "subst" "2.03229E-5" "01804" "HSPG2_000245" "g.22169397G>T" "" "" "" "HSPG2(NM_001291860.1):c.8779C>A (p.P2927T), HSPG2(NM_005529.5):c.8776C>A (p.(Pro2926Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717188" "0" "50" "1" "22170745" "22170745" "subst" "8.13385E-6" "01804" "HSPG2_000277" "g.22170745C>G" "" "" "" "HSPG2(NM_001291860.1):c.8515G>C (p.(Val2839Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717189" "0" "30" "1" "22172684" "22172684" "subst" "0.000286285" "01804" "HSPG2_000253" "g.22172684C>T" "" "" "" "HSPG2(NM_001291860.1):c.8384G>A (p.R2795Q), HSPG2(NM_005529.5):c.8381G>A (p.(Arg2794Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717190" "0" "30" "1" "22173045" "22173045" "subst" "5.68676E-5" "01943" "HSPG2_000148" "g.22173045C>T" "" "" "" "HSPG2(NM_001291860.1):c.8215G>A (p.V2739M), HSPG2(NM_005529.7):c.8212G>A (p.(Val2738Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717191" "0" "30" "1" "22173860" "22173860" "subst" "4.87516E-5" "01943" "HSPG2_000278" "g.22173860G>T" "" "" "" "HSPG2(NM_001291860.1):c.8154C>A (p.A2718=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717192" "0" "50" "1" "22175189" "22175189" "subst" "1.62467E-5" "01804" "HSPG2_000097" "g.22175189G>A" "" "" "" "HSPG2(NM_005529.5):c.7684C>T (p.(Pro2562Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717193" "0" "30" "1" "22176915" "22176915" "subst" "0.000846754" "01804" "HSPG2_000279" "g.22176915C>T" "" "" "" "HSPG2(NM_001291860.1):c.7238G>A (p.(Ser2413Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717194" "0" "50" "1" "22178643" "22178643" "subst" "0.000272285" "01943" "HSPG2_000280" "g.22178643C>T" "" "" "" "HSPG2(NM_001291860.1):c.6811G>A (p.G2271R), HSPG2(NM_005529.7):c.6808G>A (p.G2270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717195" "0" "50" "1" "22183537" "22183537" "subst" "0" "01943" "HSPG2_000281" "g.22183537T>C" "" "" "" "HSPG2(NM_001291860.1):c.5549A>G (p.D1850G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717196" "0" "50" "1" "22192211" "22192211" "subst" "1.62763E-5" "01943" "HSPG2_000282" "g.22192211G>A" "" "" "" "HSPG2(NM_001291860.1):c.4316C>T (p.T1439M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717197" "0" "50" "1" "22199535" "22199535" "subst" "0" "01943" "HSPG2_000283" "g.22199535G>A" "" "" "" "HSPG2(NM_001291860.1):c.3846C>T (p.G1282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717198" "0" "30" "1" "22200454" "22200454" "subst" "0.00166224" "01943" "HSPG2_000006" "g.22200454G>T" "" "" "" "HSPG2(NM_001291860.1):c.3710C>A (p.A1237E, p.(Ala1237Glu)), HSPG2(NM_001291860.2):c.3710C>A (p.A1237E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717199" "0" "50" "1" "22200978" "22200978" "subst" "0" "01943" "HSPG2_000284" "g.22200978C>T" "" "" "" "HSPG2(NM_001291860.1):c.3580G>A (p.G1194R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717200" "0" "50" "1" "22201132" "22201132" "subst" "4.09591E-6" "02329" "HSPG2_000191" "g.22201132C>T" "" "" "" "HSPG2(NM_001291860.1):c.3508G>A (p.E1170K), HSPG2(NM_001291860.2):c.3508G>A (p.E1170K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717201" "0" "30" "1" "22201474" "22201474" "subst" "2.63797E-5" "01943" "HSPG2_000285" "g.22201474G>A" "" "" "" "HSPG2(NM_001291860.1):c.3327C>T (p.D1109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717202" "0" "30" "1" "22204736" "22204736" "subst" "4.08183E-6" "01943" "HSPG2_000286" "g.22204736A>T" "" "" "" "HSPG2(NM_001291860.1):c.2631T>A (p.I877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717203" "0" "30" "1" "22211118" "22211118" "subst" "0.0003945" "01943" "HSPG2_000207" "g.22211118C>T" "" "" "" "HSPG2(NM_001291860.1):c.1560G>A (p.L520=), HSPG2(NM_005529.7):c.1557G>A (p.(Leu519=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717204" "0" "30" "1" "22211313" "22211313" "subst" "8.13888E-6" "01804" "HSPG2_000287" "g.22211313C>T" "" "" "" "HSPG2(NM_005529.5):c.1454G>A (p.(Arg485Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717205" "0" "30" "1" "22214536" "22214536" "subst" "9.75483E-5" "01804" "HSPG2_000288" "g.22214536T>A" "" "" "" "HSPG2(NM_005529.5):c.598A>T (p.(Thr200Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729979" "3" "90" "1" "22158296" "22158296" "subst" "0" "00000" "HSPG2_000269" "g.22158296C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_005529.5:c.11208-7G>A" "" "Germline" "" "" "0" "" "" "g.21831803C>T" "" "pathogenic (recessive)" "" "0000729980" "3" "90" "1" "22159856" "22159856" "subst" "8.13068E-6" "00000" "HSPG2_000271" "g.22159856G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_005529.5:c.11000C>T:p.(Thr3667Met)" "" "Germline" "" "" "0" "" "" "g.21833363G>A" "" "likely pathogenic (recessive)" "" "0000729981" "3" "90" "1" "22160044" "22160044" "subst" "8.12717E-6" "00000" "HSPG2_000272" "g.22160044G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_005529.5:c.10894C>T:p.(Arg3632*)" "" "Germline" "" "" "0" "" "" "g.21833551G>A" "" "pathogenic (recessive)" "" "0000729982" "3" "90" "1" "22165498" "22165498" "subst" "4.07867E-6" "00000" "HSPG2_000274" "g.22165498C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_005529.5:c.9970G>A:p.(Gly3324Arg)" "" "Germline" "" "" "0" "" "" "g.21839005C>T" "" "likely pathogenic (recessive)" "" "0000760993" "1" "70" "1" "22170706" "22170706" "del" "0" "00006" "HSPG2_000290" "g.22170706del" "" "{PMID:Tang 2021:33777089}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.21844213del" "" "likely pathogenic (recessive)" "ACMG" "0000761001" "2" "90" "1" "22154522" "22154522" "subst" "4.08257E-6" "00006" "HSPG2_000289" "g.22154522C>A" "" "{PMID:Tang 2021:33777089}" "" "" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.21828029C>A" "" "pathogenic (recessive)" "ACMG" "0000794141" "0" "70" "X" "38146420" "38146420" "subst" "0" "00000" "HSPG2_000001" "g.38146420T>C" "" "{PMID:Wan 2018:30245926}" "" "c.1832A>G; p.Asn611Ser" "Known high myopia gene; heterozygous variant" "Unknown" "?" "rs774982456" "0" "" "" "g.38287167T>C" "" "likely pathogenic" "" "0000794148" "0" "70" "1" "94490591" "94490591" "subst" "0" "00000" "ABCA4_001249" "g.94490591C>T" "" "{PMID:Wan 2018:30245926}" "" "c.4553G>A; p.Ser1518Asn" "Ocular disease gene; heterozygous variant" "Unknown" "?" "" "0" "" "" "g.94025035C>T" "" "likely pathogenic" "" "0000799118" "0" "30" "1" "22149967" "22149967" "subst" "0.00133361" "01804" "HSPG2_000291" "g.22149967C>T" "" "" "" "HSPG2(NM_001291860.1):c.13021G>A (p.(Val4341Met)), HSPG2(NM_005529.6):c.13018G>A (p.V4340M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799119" "0" "50" "1" "22159838" "22159838" "subst" "0.000113806" "02327" "HSPG2_000119" "g.22159838A>G" "" "" "" "HSPG2(NM_005529.7):c.11018T>C (p.(Phe3673Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799120" "0" "30" "1" "22178111" "22178111" "subst" "0.00200208" "02326" "HSPG2_000157" "g.22178111G>A" "" "" "" "HSPG2(NM_005529.6):c.7086C>T (p.C2362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799121" "0" "50" "1" "22181380" "22181380" "subst" "0" "01804" "HSPG2_000292" "g.22181380C>T" "" "" "" "HSPG2(NM_005529.5):c.6094G>A (p.(Gly2032Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799122" "0" "50" "1" "22186146" "22186146" "subst" "0.00035995" "01804" "HSPG2_000293" "g.22186146C>T" "" "" "" "HSPG2(NM_001291860.1):c.5209G>A (p.(Val1737Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799123" "0" "30" "1" "22202155" "22202155" "subst" "0.00457299" "01804" "HSPG2_000074" "g.22202155C>T" "" "" "" "HSPG2(NM_001291860.1):c.3272G>A (p.R1091Q, p.(Arg1091Gln)), HSPG2(NM_001291860.2):c.3272G>A (p.R1091Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799124" "0" "30" "1" "22204671" "22204671" "subst" "4.50797E-5" "01804" "HSPG2_000294" "g.22204671A>C" "" "" "" "HSPG2(NM_005529.5):c.2685+8T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817733" "3" "50" "1" "22179283" "22179283" "subst" "6.95427E-5" "00006" "HSPG2_000295" "g.22179283C>T" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.21852790C>T" "" "VUS" "ACMG" "0000848539" "0" "50" "1" "22149891" "22149891" "subst" "4.16647E-5" "01943" "HSPG2_000296" "g.22149891C>T" "" "" "" "HSPG2(NM_001291860.1):c.13097G>A (p.R4366Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848540" "0" "30" "1" "22161215" "22161215" "subst" "0.00255533" "02326" "HSPG2_000261" "g.22161215G>A" "" "" "" "HSPG2(NM_001291860.1):c.10680C>T (p.N3560=), HSPG2(NM_005529.6):c.10677C>T (p.N3559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848541" "0" "30" "1" "22163446" "22163446" "subst" "0.000419339" "01943" "HSPG2_000034" "g.22163446C>T" "" "" "" "HSPG2(NM_001291860.1):c.10207G>A (p.V3403M), HSPG2(NM_005529.5):c.10204G>A (p.(Val3402Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848542" "0" "30" "1" "22166053" "22166053" "subst" "0.000279674" "02326" "HSPG2_000301" "g.22166053C>T" "" "" "" "HSPG2(NM_005529.6):c.9710-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848543" "0" "30" "1" "22170787" "22170787" "subst" "0" "01943" "HSPG2_000303" "g.22170787C>T" "" "" "" "HSPG2(NM_001291860.1):c.8473G>A (p.G2825S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848544" "0" "30" "1" "22178126" "22178126" "subst" "0" "01943" "HSPG2_000305" "g.22178126G>A" "" "" "" "HSPG2(NM_001291860.1):c.7074C>T (p.T2358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848545" "0" "30" "1" "22178144" "22178144" "subst" "1.21831E-5" "01943" "HSPG2_000306" "g.22178144T>C" "" "" "" "HSPG2(NM_001291860.1):c.7056A>G (p.Q2352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848546" "0" "30" "1" "22179534" "22179534" "subst" "5.28937E-5" "01943" "HSPG2_000309" "g.22179534C>T" "" "" "" "HSPG2(NM_001291860.1):c.6472G>A (p.E2158K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848547" "0" "30" "1" "22183875" "22183875" "subst" "0.000587693" "01804" "HSPG2_000311" "g.22183875G>A" "" "" "" "HSPG2(NM_005529.5):c.5297C>T (p.(Ala1766Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848548" "0" "30" "1" "22188281" "22188281" "subst" "6.93651E-5" "01804" "HSPG2_000312" "g.22188281C>T" "" "" "" "HSPG2(NM_005529.5):c.4924G>A (p.(Glu1642Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848549" "0" "30" "1" "22188289" "22188289" "subst" "0.00144403" "01943" "HSPG2_000233" "g.22188289G>A" "" "" "" "HSPG2(NM_001291860.1):c.4919C>T (p.T1640M, p.(Thr1640Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848550" "0" "50" "1" "22201010" "22201010" "subst" "5.71051E-5" "01804" "HSPG2_000315" "g.22201010G>A" "" "" "" "HSPG2(NM_005529.5):c.3545C>T (p.(Thr1182Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848551" "0" "30" "1" "22207140" "22207140" "subst" "0.00379692" "01943" "HSPG2_000319" "g.22207140G>A" "" "" "" "HSPG2(NM_001291860.1):c.2001+9C>T, HSPG2(NM_005529.7):c.1998+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848552" "0" "30" "1" "22211317" "22211317" "subst" "2.03434E-5" "01943" "HSPG2_000320" "g.22211317C>T" "" "" "" "HSPG2(NM_001291860.1):c.1450G>A (p.A484T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848553" "0" "30" "1" "22214472" "22214472" "subst" "5.68662E-5" "01943" "HSPG2_000321" "g.22214472C>T" "" "" "" "HSPG2(NM_001291860.1):c.662G>A (p.R221Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857289" "0" "50" "1" "22154535" "22154535" "subst" "3.26317E-5" "01943" "HSPG2_000297" "g.22154535G>A" "" "" "" "HSPG2(NM_001291860.1):c.12523C>T (p.R4175C), HSPG2(NM_005529.7):c.12520C>T (p.(Arg4174Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857290" "0" "50" "1" "22155339" "22155339" "subst" "0" "01943" "HSPG2_000298" "g.22155339A>G" "" "" "" "HSPG2(NM_001291860.1):c.12229T>C (p.C4077R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857291" "0" "50" "1" "22155455" "22155455" "subst" "0.000915887" "01943" "HSPG2_000299" "g.22155455C>A" "" "" "" "HSPG2(NM_001291860.1):c.12113G>T (p.R4038L), HSPG2(NM_005529.5):c.12110G>T (p.(Arg4037Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857292" "0" "30" "1" "22156041" "22156041" "subst" "0.00146085" "01804" "HSPG2_000022" "g.22156041C>T" "" "" "" "HSPG2(NM_001291860.1):c.11830G>A (p.A3944T, p.(Ala3944Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857293" "0" "50" "1" "22160002" "22160002" "subst" "1.21902E-5" "01804" "HSPG2_000300" "g.22160002G>A" "" "" "" "HSPG2(NM_005529.5):c.10936C>T (p.(Arg3646Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857294" "0" "50" "1" "22169274" "22169274" "subst" "0.000322304" "01943" "HSPG2_000302" "g.22169274C>T" "" "" "" "HSPG2(NM_001291860.1):c.8902G>A (p.A2968T), HSPG2(NM_005529.5):c.8899G>A (p.(Ala2967Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857295" "0" "50" "1" "22173970" "22173970" "subst" "0" "01943" "HSPG2_000304" "g.22173970G>C" "" "" "" "HSPG2(NM_001291860.1):c.8044C>G (p.L2682V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857296" "0" "30" "1" "22178186" "22178186" "subst" "0.00010154" "01943" "HSPG2_000307" "g.22178186G>A" "" "" "" "HSPG2(NM_001291860.1):c.7014C>T (p.A2338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857297" "0" "50" "1" "22179307" "22179307" "subst" "2.47054E-5" "01804" "HSPG2_000308" "g.22179307G>A" "" "" "" "HSPG2(NM_005529.5):c.6610C>T (p.(Arg2204Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857298" "0" "50" "1" "22183649" "22183649" "subst" "2.84331E-5" "01804" "HSPG2_000310" "g.22183649C>T" "" "" "" "HSPG2(NM_005529.5):c.5434G>A (p.(Gly1812Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857299" "0" "30" "1" "22183650" "22183650" "subst" "0.00101955" "01943" "HSPG2_000062" "g.22183650G>A" "" "" "" "HSPG2(NM_001291860.1):c.5436C>T (p.N1812=), HSPG2(NM_005529.6):c.5433C>T (p.N1811=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857300" "0" "50" "1" "22190684" "22190684" "subst" "0" "01804" "HSPG2_000313" "g.22190684C>T" "" "" "" "HSPG2(NM_005529.5):c.4649G>A (p.(Arg1550His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857301" "0" "50" "1" "22200430" "22200430" "subst" "1.39639E-5" "01804" "HSPG2_000314" "g.22200430C>T" "" "" "" "HSPG2(NM_005529.5):c.3731G>A (p.(Arg1244His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857302" "0" "50" "1" "22202155" "22202155" "subst" "0.00457299" "01943" "HSPG2_000074" "g.22202155C>T" "" "" "" "HSPG2(NM_001291860.1):c.3272G>A (p.R1091Q, p.(Arg1091Gln)), HSPG2(NM_001291860.2):c.3272G>A (p.R1091Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857303" "0" "30" "1" "22202171" "22202171" "subst" "1.67459E-5" "01943" "HSPG2_000316" "g.22202171C>T" "" "" "" "HSPG2(NM_001291860.1):c.3256G>A (p.D1086N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857304" "0" "30" "1" "22206683" "22206683" "subst" "2.0313E-5" "01804" "HSPG2_000317" "g.22206683C>T" "" "" "" "HSPG2(NM_001291860.1):c.2263G>A (p.(Gly755Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857305" "0" "30" "1" "22206977" "22206977" "subst" "0.00287598" "01804" "HSPG2_000003" "g.22206977C>T" "" "" "" "HSPG2(NM_001291860.1):c.2077G>A (p.V693M, p.(Val693Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857306" "0" "50" "1" "22207024" "22207024" "subst" "2.45769E-5" "01804" "HSPG2_000318" "g.22207024G>A" "" "" "" "HSPG2(NM_001291860.1):c.2030C>T (p.(Pro677Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857307" "0" "50" "1" "22211941" "22211941" "subst" "0.00447997" "01943" "HSPG2_000211" "g.22211941G>T" "" "" "" "HSPG2(NM_001291860.1):c.1082C>A (p.T361N, p.(Thr361Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857308" "0" "30" "1" "22222455" "22222455" "subst" "0.00212948" "01943" "HSPG2_000215" "g.22222455G>T" "" "" "" "HSPG2(NM_001291860.1):c.204C>A (p.D68E, p.(Asp68Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000877159" "21" "70" "1" "22199489" "22199489" "subst" "0" "02153" "HSPG2_000322" "g.22199489C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21872996C>T" "" "likely pathogenic (recessive)" "" "0000877160" "11" "50" "1" "22172601" "22172601" "subst" "4.09343E-6" "02153" "HSPG2_000323" "g.22172601C>T" "" "" "" "" "" "Germline" "yes" "rs748523693" "0" "" "" "g.21846108C>T" "" "VUS" "" "0000883143" "0" "30" "1" "22149897" "22149897" "subst" "0.00108459" "01804" "HSPG2_000324" "g.22149897G>A" "" "" "" "HSPG2(NM_005529.5):c.13088C>T (p.(Ser4363Leu)), HSPG2(NM_005529.6):c.13088C>T (p.S4363L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883144" "0" "30" "1" "22149897" "22149897" "subst" "0.00108459" "02326" "HSPG2_000324" "g.22149897G>A" "" "" "" "HSPG2(NM_005529.5):c.13088C>T (p.(Ser4363Leu)), HSPG2(NM_005529.6):c.13088C>T (p.S4363L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883145" "0" "50" "1" "22155422" "22155422" "subst" "0" "01804" "HSPG2_000325" "g.22155422A>G" "" "" "" "HSPG2(NM_005529.5):c.12143T>C (p.(Leu4048Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883146" "0" "50" "1" "22155455" "22155455" "subst" "0.000915887" "01804" "HSPG2_000299" "g.22155455C>A" "" "" "" "HSPG2(NM_001291860.1):c.12113G>T (p.R4038L), HSPG2(NM_005529.5):c.12110G>T (p.(Arg4037Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883147" "0" "30" "1" "22156539" "22156539" "subst" "0.000381642" "02326" "HSPG2_000326" "g.22156539C>T" "" "" "" "HSPG2(NM_005529.6):c.11717G>A (p.R3906Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883148" "0" "50" "1" "22157517" "22157517" "subst" "0" "01804" "HSPG2_000327" "g.22157517C>T" "" "" "" "HSPG2(NM_001291860.1):c.11632G>A (p.(Gly3878Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883149" "0" "30" "1" "22159784" "22159784" "subst" "0.00109268" "01804" "HSPG2_000328" "g.22159784G>A" "" "" "" "HSPG2(NM_001291860.1):c.11075C>T (p.(Thr3692Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883150" "0" "90" "1" "22160420" "22160420" "dup" "0" "02325" "HSPG2_000329" "g.22160420dup" "" "" "" "HSPG2(NM_005529.7):c.10721-2dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883151" "0" "30" "1" "22163446" "22163446" "subst" "0.000270957" "01804" "HSPG2_000330" "g.22163446C>G" "" "" "" "HSPG2(NM_001291860.1):c.10207G>C (p.(Val3403Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883152" "0" "30" "1" "22167604" "22167604" "subst" "8.66619E-5" "01804" "HSPG2_000331" "g.22167604G>C" "" "" "" "HSPG2(NM_001291860.1):c.9506C>G (p.(Ala3169Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883153" "0" "50" "1" "22175281" "22175281" "subst" "8.13411E-6" "01804" "HSPG2_000332" "g.22175281C>T" "" "" "" "HSPG2(NM_001291860.1):c.7595G>A (p.(Gly2532Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883154" "0" "50" "1" "22178643" "22178643" "subst" "0.000272285" "02325" "HSPG2_000280" "g.22178643C>T" "" "" "" "HSPG2(NM_001291860.1):c.6811G>A (p.G2271R), HSPG2(NM_005529.7):c.6808G>A (p.G2270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883155" "0" "50" "1" "22181187" "22181187" "subst" "0.000104156" "01804" "HSPG2_000051" "g.22181187C>T" "" "" "" "HSPG2(NM_001291860.1):c.6208G>A (p.D2070N), HSPG2(NM_005529.5):c.6205G>A (p.(Asp2069Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883156" "0" "30" "1" "22188328" "22188328" "subst" "0.0014308" "02326" "HSPG2_000067" "g.22188328C>T" "" "" "" "HSPG2(NM_001291860.1):c.4880G>A (p.(Arg1627His)), HSPG2(NM_005529.6):c.4877G>A (p.R1626H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883157" "0" "30" "1" "22190686" "22190686" "subst" "0.000191333" "02326" "HSPG2_000333" "g.22190686C>T" "" "" "" "HSPG2(NM_005529.6):c.4647G>A (p.T1549=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883158" "0" "30" "1" "22198803" "22198803" "subst" "6.57801E-5" "01804" "HSPG2_000334" "g.22198803C>T" "" "" "" "HSPG2(NM_005529.5):c.4097G>A (p.(Arg1366His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883159" "0" "50" "1" "22201004" "22201004" "subst" "3.26267E-5" "02325" "HSPG2_000335" "g.22201004C>T" "" "" "" "HSPG2(NM_005529.7):c.3551G>A (p.G1184D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883160" "0" "30" "1" "22202483" "22202483" "subst" "0.00658194" "02326" "HSPG2_000001" "g.22202483G>A" "" "" "" "HSPG2(NM_005529.5):c.3056C>T (p.(Pro1019Leu)), HSPG2(NM_005529.6):c.3056C>T (p.P1019L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883161" "0" "30" "1" "22202875" "22202875" "subst" "0.000802548" "02326" "HSPG2_000336" "g.22202875A>G" "" "" "" "HSPG2(NM_005529.6):c.2850T>C (p.P950=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883162" "0" "50" "1" "22204731" "22204731" "subst" "0.000240885" "01804" "HSPG2_000337" "g.22204731C>T" "" "" "" "HSPG2(NM_005529.5):c.2633G>A (p.(Arg878His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883163" "0" "50" "1" "22211836" "22211836" "subst" "2.03115E-5" "01804" "HSPG2_000085" "g.22211836T>G" "" "" "" "HSPG2(NM_001291860.1):c.1187A>C (p.D396A), HSPG2(NM_005529.5):c.1187A>C (p.(Asp396Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883164" "0" "30" "1" "22213832" "22213832" "subst" "0.000495725" "02326" "HSPG2_000338" "g.22213832G>A" "" "" "" "HSPG2(NM_005529.6):c.959-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883165" "0" "30" "1" "22216581" "22216581" "subst" "1.62431E-5" "01804" "HSPG2_000339" "g.22216581G>A" "" "" "" "HSPG2(NM_001291860.1):c.467C>T (p.(Ala156Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883166" "0" "50" "1" "22217175" "22217175" "subst" "0" "02325" "HSPG2_000340" "g.22217175G>C" "" "" "" "HSPG2(NM_005529.7):c.257C>G (p.A86G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908936" "0" "70" "1" "22188247" "22188247" "subst" "3.25905E-5" "00006" "HSPG2_000341" "g.22188247T>A" "" "{PMID:Bournazos 2022:34906502}" "" "" "exon skipping, cryptic splice donor" "Germline/De novo (untested)" "" "" "0" "" "" "g.21861754T>A" "" "pathogenic (recessive)" "" "0000910946" "0" "50" "1" "22158995" "22158995" "subst" "9.75324E-5" "02325" "HSPG2_000342" "g.22158995C>T" "" "" "" "HSPG2(NM_005529.7):c.11200G>A (p.(Glu3734Lys), p.E3734K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910947" "0" "70" "1" "22175134" "22175134" "subst" "0" "02327" "HSPG2_000343" "g.22175134A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000910948" "0" "50" "1" "22183601" "22183601" "subst" "2.03034E-5" "01804" "HSPG2_000344" "g.22183601G>A" "" "" "" "HSPG2(NM_005529.5):c.5482C>T (p.(Arg1828Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910949" "0" "30" "1" "22188477" "22188477" "subst" "4.06068E-5" "02325" "HSPG2_000345" "g.22188477C>T" "" "" "" "HSPG2(NM_005529.7):c.4868+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923079" "0" "50" "1" "22161243" "22161243" "subst" "1.62549E-5" "02327" "HSPG2_000346" "g.22161243G>A" "" "" "" "HSPG2(NM_005529.7):c.10649C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923080" "0" "30" "1" "22166403" "22166403" "subst" "0" "01804" "HSPG2_000347" "g.22166403C>T" "" "" "" "HSPG2(NM_005529.5):c.9621G>A (p.(Met3207Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923081" "0" "30" "1" "22191473" "22191473" "subst" "0.00160879" "01804" "HSPG2_000183" "g.22191473A>T" "" "" "" "HSPG2(NM_001291860.1):c.4492T>A (p.F1498I, p.(Phe1498Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928112" "0" "50" "1" "22176542" "22176542" "subst" "0.000648339" "01804" "HSPG2_000348" "g.22176542G>A" "" "" "" "HSPG2(NM_001291860.1):c.7441C>T (p.(Arg2481Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928113" "0" "30" "1" "22179519" "22179519" "subst" "8.13557E-6" "01804" "HSPG2_000349" "g.22179519G>A" "" "" "" "HSPG2(NM_001291860.1):c.6487C>T (p.(His2163Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928114" "0" "30" "1" "22183650" "22183650" "subst" "0.00101955" "02326" "HSPG2_000062" "g.22183650G>A" "" "" "" "HSPG2(NM_001291860.1):c.5436C>T (p.N1812=), HSPG2(NM_005529.6):c.5433C>T (p.N1811=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928115" "0" "30" "1" "22201462" "22201462" "subst" "0.000790909" "02326" "HSPG2_000350" "g.22201462G>A" "" "" "" "HSPG2(NM_005529.6):c.3336C>T (p.P1112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946009" "1" "90" "1" "22211006" "22211006" "subst" "0" "00006" "HSPG2_000351" "g.22211006C>T" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.21884513C>T" "" "pathogenic (recessive)" "" "0000946117" "0" "50" "1" "22157559" "22157560" "del" "9.38245E-6" "00006" "HSPG2_000095" "g.22157559_22157560del" "" "{PMID:Westra 2019:31127727}" "" "" "no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.21831066_21831067del" "" "VUS" "" "0000946162" "2" "90" "1" "22168765" "22168765" "del" "4.07017E-6" "00006" "HSPG2_000096" "g.22168765del" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.21842272del" "" "pathogenic (recessive)" "" "0000947153" "0" "50" "1" "22157781" "22157781" "subst" "0" "01804" "HSPG2_000352" "g.22157781A>T" "" "" "" "HSPG2(NM_001291860.1):c.11492T>A (p.(Ile3831Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947154" "0" "30" "1" "22173967" "22173967" "subst" "0.0017306" "02326" "HSPG2_000045" "g.22173967G>A" "" "" "" "HSPG2(NM_001291860.1):c.8047C>T (p.R2683W), HSPG2(NM_005529.5):c.8044C>T (p.(Arg2682Trp)), HSPG2(NM_005529.6):c.8044C>T (p.R2682W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947155" "0" "30" "1" "22216941" "22216941" "subst" "0" "01804" "HSPG2_000353" "g.22216941A>G" "" "" "" "HSPG2(NM_001291860.1):c.392T>C (p.(Val131Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960833" "0" "30" "1" "22150828" "22150828" "subst" "0.000857222" "02326" "HSPG2_000354" "g.22150828G>A" "" "" "" "HSPG2(NM_005529.6):c.12786C>T (p.L4262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960834" "0" "30" "1" "22155370" "22155370" "subst" "6.61026E-5" "02326" "HSPG2_000355" "g.22155370C>T" "" "" "" "HSPG2(NM_005529.6):c.12195G>A (p.P4065=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960843" "0" "50" "1" "22178610" "22178610" "subst" "4.06497E-6" "01804" "HSPG2_000357" "g.22178610G>A" "" "" "" "HSPG2(NM_005529.5):c.6841C>T (p.(Arg2281Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960851" "0" "30" "1" "22190579" "22190579" "subst" "0.000700467" "02326" "HSPG2_000358" "g.22190579C>T" "" "" "" "HSPG2(NM_005529.6):c.4740+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960853" "0" "30" "1" "22202132" "22202132" "subst" "0.00235559" "01804" "HSPG2_000359" "g.22202132C>T" "" "" "" "HSPG2(NM_005529.5):c.3292G>A (p.(Ala1098Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973649" "0" "30" "1" "22148091" "22148091" "subst" "0.000686635" "01804" "HSPG2_000360" "g.22148091C>T" "" "" "" "LDLRAD2(NM_001013693.3):c.792C>T (p.(Asp264=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973650" "0" "50" "1" "22154362" "22154362" "subst" "0" "01804" "HSPG2_000361" "g.22154362C>T" "" "" "" "HSPG2(NM_005529.7):c.12583G>A (p.(Gly4195Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973651" "0" "50" "1" "22154628" "22154628" "subst" "1.22425E-5" "01804" "HSPG2_000362" "g.22154628C>T" "" "" "" "HSPG2(NM_005529.7):c.12427G>A (p.(Glu4143Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973652" "0" "50" "1" "22155525" "22155525" "subst" "0" "01804" "HSPG2_000363" "g.22155525G>T" "" "" "" "HSPG2(NM_005529.7):c.12040C>A (p.(His4014Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973653" "0" "50" "1" "22159008" "22159008" "del" "0" "01804" "HSPG2_000221" "g.22159008del" "" "" "" "HSPG2(NM_005529.7):c.11192del (p.(Gly3731GlufsTer30))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973654" "0" "50" "1" "22161419" "22161419" "subst" "1.22822E-5" "01804" "HSPG2_000364" "g.22161419G>A" "" "" "" "HSPG2(NM_005529.7):c.10473C>T (p.(Ile3491=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973655" "0" "50" "1" "22167695" "22167695" "subst" "0.000170825" "01804" "HSPG2_000365" "g.22167695C>T" "" "" "" "HSPG2(NM_005529.7):c.9412G>A (p.(Gly3138Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973656" "0" "50" "1" "22168823" "22168823" "subst" "0.000302963" "01804" "HSPG2_000366" "g.22168823G>A" "" "" "" "HSPG2(NM_005529.7):c.8961C>T (p.(Gly2987=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973657" "0" "30" "1" "22169254" "22169254" "subst" "8.16087E-6" "01804" "HSPG2_000367" "g.22169254C>A" "" "" "" "HSPG2(NM_005529.7):c.8910+9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973658" "0" "10" "1" "22169926" "22169926" "subst" "0.0252785" "01804" "HSPG2_000368" "g.22169926G>A" "" "" "" "HSPG2(NM_005529.7):c.8622C>T (p.(His2874=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973659" "0" "50" "1" "22176921" "22176944" "del" "0" "01804" "HSPG2_000226" "g.22176921_22176944del" "" "" "" "HSPG2(NM_001291860.1):c.7213_7236delGAGTACGTGTGCCGAGTGTTGGGC (p.E2405_G2412del), HSPG2(NM_005529.7):c.7210_7233del (p.(Glu2404_Gly2411del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973660" "0" "30" "1" "22178171" "22178171" "subst" "0.000495456" "02326" "HSPG2_000369" "g.22178171G>A" "" "" "" "HSPG2(NM_005529.6):c.7026C>T (p.P2342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973661" "0" "50" "1" "22180681" "22180681" "subst" "0" "01804" "HSPG2_000370" "g.22180681C>T" "" "" "" "HSPG2(NM_005529.7):c.6439+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973662" "0" "50" "1" "22180818" "22180818" "subst" "0" "01804" "HSPG2_000371" "g.22180818G>A" "" "" "" "HSPG2(NM_005529.7):c.6307C>T (p.(Arg2103Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973663" "0" "30" "1" "22188344" "22188344" "subst" "4.48562E-5" "01804" "HSPG2_000372" "g.22188344C>T" "" "" "" "HSPG2(NM_005529.7):c.4869-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973664" "0" "30" "1" "22198700" "22198700" "subst" "2.01002E-5" "02326" "HSPG2_000373" "g.22198700C>T" "" "" "" "HSPG2(NM_005529.6):c.4200G>A (p.P1400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973665" "0" "30" "1" "22205061" "22205061" "subst" "8.13101E-6" "01804" "HSPG2_000374" "g.22205061C>T" "" "" "" "HSPG2(NM_005529.7):c.2558+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973666" "0" "30" "1" "22207140" "22207140" "subst" "0.00379692" "01804" "HSPG2_000319" "g.22207140G>A" "" "" "" "HSPG2(NM_001291860.1):c.2001+9C>T, HSPG2(NM_005529.7):c.1998+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973667" "0" "30" "1" "22211072" "22211072" "subst" "2.47439E-5" "01804" "HSPG2_000375" "g.22211072G>A" "" "" "" "HSPG2(NM_005529.7):c.1603C>T (p.(Arg535Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973668" "0" "30" "1" "22211118" "22211118" "subst" "0.0003945" "01804" "HSPG2_000207" "g.22211118C>T" "" "" "" "HSPG2(NM_001291860.1):c.1560G>A (p.L520=), HSPG2(NM_005529.7):c.1557G>A (p.(Leu519=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973669" "0" "50" "1" "22211396" "22211396" "subst" "2.03267E-5" "01804" "HSPG2_000376" "g.22211396G>T" "" "" "" "HSPG2(NM_005529.7):c.1371C>A (p.(Ser457Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973670" "0" "50" "1" "22213738" "22213738" "subst" "8.12262E-6" "01804" "HSPG2_000377" "g.22213738A>G" "" "" "" "HSPG2(NM_005529.7):c.1048T>C (p.(Cys350Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990848" "0" "50" "1" "22161376" "22161376" "subst" "0.000138342" "01804" "HSPG2_000378" "g.22161376C>T" "" "" "" "HSPG2(NM_005529.5):c.10516G>A (p.(Val3506Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990849" "0" "30" "1" "22169270" "22169270" "subst" "9.38094E-5" "01804" "HSPG2_000252" "g.22169270C>T" "" "" "" "HSPG2(NM_001291860.1):c.8906G>A (p.R2969Q), HSPG2(NM_005529.5):c.8903G>A (p.(Arg2968Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990850" "0" "30" "1" "22169274" "22169274" "subst" "0.000322304" "01804" "HSPG2_000302" "g.22169274C>T" "" "" "" "HSPG2(NM_001291860.1):c.8902G>A (p.A2968T), HSPG2(NM_005529.5):c.8899G>A (p.(Ala2967Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990851" "0" "50" "1" "22173054" "22173054" "subst" "2.03112E-5" "01804" "HSPG2_000379" "g.22173054A>C" "" "" "" "HSPG2(NM_005529.5):c.8203T>G (p.(Ser2735Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990852" "0" "50" "1" "22176557" "22176557" "subst" "8.14618E-5" "01804" "HSPG2_000380" "g.22176557C>G" "" "" "" "HSPG2(NM_005529.5):c.7423G>C (p.(Gly2475Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990853" "0" "50" "1" "22178588" "22178588" "subst" "2.44043E-5" "01804" "HSPG2_000381" "g.22178588C>T" "" "" "" "HSPG2(NM_005529.5):c.6863G>A (p.(Arg2288Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990854" "0" "50" "1" "22183807" "22183807" "subst" "8.12599E-6" "01804" "HSPG2_000382" "g.22183807C>T" "" "" "" "HSPG2(NM_005529.5):c.5365G>A (p.(Val1789Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990855" "0" "50" "1" "22183825" "22183825" "subst" "4.06474E-6" "01804" "HSPG2_000383" "g.22183825C>A" "" "" "" "HSPG2(NM_005529.5):c.5347G>T (p.(Val1783Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990857" "0" "30" "1" "22211287" "22211287" "subst" "0" "01804" "HSPG2_000384" "g.22211287C>T" "" "" "" "HSPG2(NM_005529.5):c.1480G>A (p.(Gly494Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990858" "0" "70" "1" "22214012" "22214012" "del" "0" "01804" "HSPG2_000385" "g.22214012del" "" "" "" "HSPG2(NM_005529.5):c.862delC (p.(Gln288fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000990859" "0" "50" "1" "22214060" "22214060" "subst" "4.9085E-5" "01804" "HSPG2_000386" "g.22214060C>T" "" "" "" "HSPG2(NM_005529.5):c.811G>A (p.(Ala271Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013284" "0" "50" "1" "22158177" "22158177" "subst" "0" "02329" "HSPG2_000387" "g.22158177C>T" "" "" "" "HSPG2(NM_001291860.2):c.11323G>A (p.G3775S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029707" "21" "50" "1" "22165575" "22165575" "subst" "1.34854E-5" "00006" "HSPG2_000388" "g.22165575G>A" "" "{PMID:Tidwell 2020:33154040}, {DOI:Tidwell 2020:10.1101/mcs.a005728}" "" "" "" "Germline" "" "" "0" "" "" "g.21839082G>A" "" "VUS" "" "0001031676" "0" "50" "1" "22149986" "22149986" "subst" "0.000338539" "01804" "HSPG2_000389" "g.22149986C>T" "" "" "" "HSPG2(NM_005529.7):c.13004-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031677" "0" "10" "1" "22154387" "22154387" "subst" "0.0407728" "01804" "HSPG2_000390" "g.22154387G>A" "" "" "" "HSPG2(NM_005529.7):c.12558C>T (p.(Ser4186=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001031678" "0" "50" "1" "22155557" "22155557" "subst" "5.17071E-5" "01804" "HSPG2_000391" "g.22155557C>T" "" "" "" "HSPG2(NM_005529.7):c.12008G>A (p.(Arg4003Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031679" "0" "50" "1" "22155558" "22155558" "subst" "8.13537E-5" "01804" "HSPG2_000392" "g.22155558G>A" "" "" "" "HSPG2(NM_005529.7):c.12007C>T (p.(Arg4003Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031680" "0" "50" "1" "22156510" "22156510" "subst" "2.96326E-5" "01804" "HSPG2_000393" "g.22156510G>A" "" "" "" "HSPG2(NM_005529.7):c.11746C>T (p.(Arg3916Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031681" "0" "10" "1" "22157545" "22157545" "subst" "0.0414578" "01804" "HSPG2_000394" "g.22157545G>A" "" "" "" "HSPG2(NM_005529.7):c.11601C>T (p.(Tyr3867=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001031682" "0" "50" "1" "22157579" "22157579" "subst" "0.000120129" "01804" "HSPG2_000395" "g.22157579C>T" "" "" "" "HSPG2(NM_005529.7):c.11567G>A (p.(Gly3856Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031683" "0" "50" "1" "22157788" "22157788" "subst" "0.000243853" "01804" "HSPG2_000396" "g.22157788C>T" "" "" "" "HSPG2(NM_005529.7):c.11482G>A (p.(Glu3828Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031684" "0" "50" "1" "22157979" "22157979" "subst" "4.06412E-6" "01804" "HSPG2_000397" "g.22157979G>A" "" "" "" "HSPG2(NM_005529.7):c.11429C>T (p.(Ala3810Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031685" "0" "50" "1" "22158013" "22158013" "subst" "0" "01804" "HSPG2_000398" "g.22158013C>A" "" "" "" "HSPG2(NM_005529.7):c.11395G>T (p.(Gly3799Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031686" "0" "50" "1" "22159031" "22159031" "subst" "4.06204E-6" "01804" "HSPG2_000399" "g.22159031C>T" "" "" "" "HSPG2(NM_005529.7):c.11164G>A (p.(Asp3722Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031687" "0" "90" "1" "22159874" "22159874" "subst" "4.06573E-6" "01804" "HSPG2_000400" "g.22159874C>T" "" "" "" "HSPG2(NM_005529.7):c.10982G>A (p.(Arg3661Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001031688" "0" "50" "1" "22160337" "22160337" "subst" "1.32407E-5" "01804" "HSPG2_000401" "g.22160337T>C" "" "" "" "HSPG2(NM_005529.7):c.10802A>G (p.(Tyr3601Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031689" "0" "50" "1" "22161219" "22161219" "subst" "0" "01804" "HSPG2_000402" "g.22161219G>C" "" "" "" "HSPG2(NM_005529.7):c.10673C>G (p.(Thr3558Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031690" "0" "30" "1" "22165407" "22165407" "subst" "0.000165401" "01804" "HSPG2_000403" "g.22165407C>T" "" "" "" "HSPG2(NM_005529.7):c.10061G>A (p.(Arg3354His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031691" "0" "70" "1" "22166435" "22166435" "subst" "8.12163E-6" "01804" "HSPG2_000404" "g.22166435G>A" "" "" "" "HSPG2(NM_005529.7):c.9589C>T (p.(Gln3197*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001031692" "0" "50" "1" "22168161" "22168161" "subst" "0" "01804" "HSPG2_000405" "g.22168161C>T" "" "" "" "HSPG2(NM_005529.7):c.9199G>A (p.(Val3067Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031693" "0" "50" "1" "22168866" "22168866" "subst" "0" "01804" "HSPG2_000406" "g.22168866C>T" "" "" "" "HSPG2(NM_005529.7):c.8918G>A (p.(Gly2973Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031694" "0" "50" "1" "22173003" "22173003" "subst" "0.00010969" "01804" "HSPG2_000225" "g.22173003C>T" "" "" "" "HSPG2(NM_001291860.1):c.8257G>A (p.G2753R), HSPG2(NM_005529.7):c.8254G>A (p.(Gly2752Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031695" "0" "30" "1" "22173847" "22173847" "subst" "9.34473E-5" "01804" "HSPG2_000407" "g.22173847C>T" "" "" "" "HSPG2(NM_005529.7):c.8164G>A (p.(Ala2722Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031696" "0" "50" "1" "22174451" "22174451" "subst" "2.03318E-5" "01804" "HSPG2_000408" "g.22174451C>T" "" "" "" "HSPG2(NM_005529.7):c.7873G>A (p.(Val2625Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031697" "0" "10" "1" "22174518" "22174518" "subst" "0.0496802" "01804" "HSPG2_000409" "g.22174518G>T" "" "" "" "HSPG2(NM_005529.7):c.7806C>A (p.(Val2602=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001031699" "0" "50" "1" "22178344" "22178344" "subst" "8.13974E-6" "01804" "HSPG2_000410" "g.22178344C>T" "" "" "" "HSPG2(NM_005529.7):c.6946G>A (p.(Gly2316Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031700" "0" "10" "1" "22179451" "22179451" "subst" "0.0498748" "01804" "HSPG2_000411" "g.22179451C>T" "" "" "" "HSPG2(NM_005529.7):c.6552G>A (p.(Thr2184=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001031701" "0" "10" "1" "22180723" "22180723" "subst" "0.0477085" "01804" "HSPG2_000412" "g.22180723C>T" "" "" "" "HSPG2(NM_005529.7):c.6402G>A (p.(Val2134=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001031702" "0" "50" "1" "22181473" "22181473" "subst" "0" "01804" "HSPG2_000413" "g.22181473G>T" "" "" "" "HSPG2(NM_005529.7):c.6001C>A (p.(Arg2001=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031703" "0" "50" "1" "22181889" "22181889" "subst" "2.87945E-5" "01804" "HSPG2_000414" "g.22181889C>T" "" "" "" "HSPG2(NM_005529.7):c.5905G>A (p.(Ala1969Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031704" "0" "50" "1" "22181937" "22181937" "subst" "1.6444E-5" "01804" "HSPG2_000415" "g.22181937C>T" "" "" "" "HSPG2(NM_005529.7):c.5857G>A (p.(Gly1953Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031705" "0" "50" "1" "22182388" "22182388" "subst" "3.71195E-5" "01804" "HSPG2_000416" "g.22182388C>T" "" "" "" "HSPG2(NM_005529.7):c.5593G>A (p.(Ala1865Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031706" "0" "50" "1" "22186321" "22186321" "subst" "0" "01804" "HSPG2_000417" "g.22186321T>C" "" "" "" "HSPG2(NM_005529.7):c.5182+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031707" "0" "50" "1" "22188575" "22188575" "subst" "0" "01804" "HSPG2_000418" "g.22188575C>T" "" "" "" "HSPG2(NM_005529.7):c.4774G>A (p.(Glu1592Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031708" "0" "50" "1" "22198822" "22198822" "subst" "0.000149767" "01804" "HSPG2_000419" "g.22198822T>C" "" "" "" "HSPG2(NM_005529.7):c.4078A>G (p.(Asn1360Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031709" "0" "50" "1" "22202738" "22202738" "subst" "0.000239253" "01804" "HSPG2_000420" "g.22202738C>T" "" "" "" "HSPG2(NM_005529.7):c.2987G>A (p.(Arg996His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031710" "0" "50" "1" "22202835" "22202835" "subst" "9.83212E-5" "01804" "HSPG2_000076" "g.22202835T>A" "" "" "" "HSPG2(NM_001291860.1):c.2893A>T (p.T965S), HSPG2(NM_005529.7):c.2890A>T (p.(Thr964Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031711" "0" "50" "1" "22205491" "22205491" "subst" "8.13941E-6" "01804" "HSPG2_000200" "g.22205491G>A" "" "" "" "HSPG2(NM_001291860.1):c.2470C>T (p.R824C), HSPG2(NM_005529.7):c.2467C>T (p.(Arg823Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031712" "0" "50" "1" "22207214" "22207214" "subst" "0" "01804" "HSPG2_000421" "g.22207214G>A" "" "" "" "HSPG2(NM_005529.7):c.1933C>T (p.(Leu645Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031713" "0" "50" "1" "22216578" "22216578" "subst" "0" "01804" "HSPG2_000422" "g.22216578T>C" "" "" "" "HSPG2(NM_005529.7):c.470A>G (p.(Asp157Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045645" "0" "30" "1" "22149967" "22149967" "subst" "0.00133361" "02326" "HSPG2_000291" "g.22149967C>T" "" "" "" "HSPG2(NM_001291860.1):c.13021G>A (p.(Val4341Met)), HSPG2(NM_005529.6):c.13018G>A (p.V4340M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045646" "0" "30" "1" "22155310" "22155310" "subst" "2.04658E-5" "02326" "HSPG2_000423" "g.22155310C>T" "" "" "" "HSPG2(NM_005529.6):c.12237+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045647" "0" "50" "1" "22169859" "22169859" "subst" "0.000109843" "02325" "HSPG2_000424" "g.22169859C>T" "" "" "" "HSPG2(NM_005529.7):c.8689G>A (p.G2897R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045648" "0" "30" "1" "22181251" "22181251" "subst" "0.000570519" "02326" "HSPG2_000230" "g.22181251A>G" "" "" "" "HSPG2(NM_001291860.1):c.6144T>C (p.D2048=), HSPG2(NM_005529.6):c.6141T>C (p.D2047=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045649" "0" "30" "1" "22191874" "22191874" "subst" "0.000272156" "02326" "HSPG2_000425" "g.22191874C>A" "" "" "" "HSPG2(NM_005529.6):c.4315-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045650" "0" "50" "1" "22207244" "22207244" "subst" "0" "02325" "HSPG2_000203" "g.22207244C>T" "" "" "" "HSPG2(NM_005529.5):c.1903G>A (p.(Val635Met)), HSPG2(NM_005529.7):c.1903G>A (p.V635M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045651" "0" "30" "1" "22214139" "22214139" "subst" "0.000497022" "02326" "HSPG2_000239" "g.22214139T>C" "" "" "" "HSPG2(NM_001291860.1):c.732A>G (p.T244=), HSPG2(NM_005529.6):c.732A>G (p.T244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001048177" "0" "10" "1" "22173967" "22173967" "subst" "0.0017306" "00006" "HSPG2_000045" "g.22173967G>A" "" "{PMID:Plachy 2019:30753492}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21847474G>A" "" "benign" "" "0001048183" "0" "10" "1" "22150639" "22150639" "subst" "0.00147216" "00006" "HSPG2_000014" "g.22150639C>T" "" "{PMID:Plachy 2019:30753492}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21824146C>T" "" "benign" "" "0001049976" "0" "50" "1" "22149889" "22149889" "subst" "7.85897E-5" "01804" "HSPG2_000426" "g.22149889G>A" "" "" "" "HSPG2(NM_005529.7):c.13096C>T (p.(Pro4366Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049977" "0" "50" "1" "22154535" "22154535" "subst" "3.26317E-5" "01804" "HSPG2_000297" "g.22154535G>A" "" "" "" "HSPG2(NM_001291860.1):c.12523C>T (p.R4175C), HSPG2(NM_005529.7):c.12520C>T (p.(Arg4174Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049978" "0" "50" "1" "22154888" "22154888" "subst" "8.13537E-6" "01804" "HSPG2_000427" "g.22154888G>T" "" "" "" "HSPG2(NM_005529.7):c.12269C>A (p.(Thr4090Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049979" "0" "50" "1" "22155942" "22155942" "subst" "1.22131E-5" "01804" "HSPG2_000428" "g.22155942C>T" "" "" "" "HSPG2(NM_005529.7):c.11926G>A (p.(Val3976Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049980" "0" "50" "1" "22158995" "22158995" "subst" "9.75324E-5" "01804" "HSPG2_000342" "g.22158995C>T" "" "" "" "HSPG2(NM_005529.7):c.11200G>A (p.(Glu3734Lys), p.E3734K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049981" "0" "50" "1" "22159797" "22159797" "subst" "1.21869E-5" "01804" "HSPG2_000429" "g.22159797C>T" "" "" "" "HSPG2(NM_005529.7):c.11059G>A (p.(Glu3687Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049982" "0" "50" "1" "22160355" "22160355" "subst" "0" "01804" "HSPG2_000430" "g.22160355G>T" "" "" "" "HSPG2(NM_005529.7):c.10784C>A (p.(Pro3595His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049983" "0" "50" "1" "22161303" "22161303" "subst" "0.000142189" "01804" "HSPG2_000431" "g.22161303C>T" "" "" "" "HSPG2(NM_005529.7):c.10589G>A (p.(Arg3530Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049984" "0" "70" "1" "22163478" "22163478" "dup" "0" "01804" "HSPG2_000432" "g.22163478dup" "" "" "" "HSPG2(NM_005529.7):c.10173dup (p.(Thr3392Hisfs*27))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001049985" "0" "50" "1" "22167743" "22167743" "subst" "2.44137E-5" "01804" "HSPG2_000433" "g.22167743C>T" "" "" "" "HSPG2(NM_005529.7):c.9364G>A (p.(Val3122Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049986" "0" "50" "1" "22176941" "22176941" "subst" "2.48507E-5" "01804" "HSPG2_000434" "g.22176941G>A" "" "" "" "HSPG2(NM_005529.7):c.7209C>T (p.(Gly2403=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049987" "0" "50" "1" "22178052" "22178052" "subst" "4.0624E-6" "01804" "HSPG2_000435" "g.22178052G>A" "" "" "" "HSPG2(NM_005529.7):c.7145C>T (p.(Pro2382Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049988" "0" "50" "1" "22179516" "22179516" "subst" "2.03403E-5" "01804" "HSPG2_000436" "g.22179516C>T" "" "" "" "HSPG2(NM_005529.7):c.6487G>A (p.(Val2163Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049989" "0" "50" "1" "22182325" "22182325" "subst" "4.49662E-5" "01804" "HSPG2_000437" "g.22182325G>A" "" "" "" "HSPG2(NM_005529.7):c.5656C>T (p.(Arg1886Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049990" "0" "50" "1" "22188296" "22188296" "subst" "0.000175389" "01804" "HSPG2_000180" "g.22188296G>A" "" "" "" "HSPG2(NM_001291860.1):c.4912C>T (p.R1638C), HSPG2(NM_005529.7):c.4909C>T (p.(Arg1637Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049991" "0" "50" "1" "22191529" "22191529" "subst" "2.90874E-5" "01804" "HSPG2_000438" "g.22191529C>T" "" "" "" "HSPG2(NM_005529.7):c.4433G>A (p.(Arg1478His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049992" "0" "50" "1" "22201152" "22201152" "subst" "3.29305E-5" "01804" "HSPG2_000439" "g.22201152T>C" "" "" "" "HSPG2(NM_005529.7):c.3485A>G (p.(His1162Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049993" "0" "50" "1" "22206600" "22206600" "subst" "0" "01804" "HSPG2_000440" "g.22206600C>T" "" "" "" "HSPG2(NM_005529.7):c.2343G>A (p.(Leu781=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049994" "0" "50" "1" "22206959" "22206959" "subst" "2.03668E-5" "01804" "HSPG2_000441" "g.22206959A>G" "" "" "" "HSPG2(NM_005529.7):c.2092T>C (p.(Tyr698His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049995" "0" "50" "1" "22213958" "22213958" "subst" "1.6266E-5" "01804" "HSPG2_000442" "g.22213958C>T" "" "" "" "HSPG2(NM_005529.7):c.913G>A (p.(Asp305Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049996" "0" "50" "1" "22213994" "22213994" "subst" "2.44359E-5" "01804" "HSPG2_000443" "g.22213994G>A" "" "" "" "HSPG2(NM_005529.7):c.877C>T (p.(Arg293Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049997" "0" "50" "1" "22214464" "22214464" "subst" "4.4682E-5" "01804" "HSPG2_000444" "g.22214464C>T" "" "" "" "HSPG2(NM_005529.7):c.670G>A (p.(Asp224Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes HSPG2 ## Count = 485 "{{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}}" "0000000091" "00000028" "50" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Pro1019Leu)" "" "0000000092" "00000028" "50" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Pro1019Leu)" "" "0000050316" "00000028" "30" "11628" "0" "11628" "0" "c.11628C>T" "r.(=)" "p.(Thr3876=)" "" "0000067235" "00000028" "30" "1627" "0" "1627" "0" "c.1627C>T" "r.(?)" "p.(Arg543Cys)" "13" "0000067236" "00000028" "30" "2074" "0" "2074" "0" "c.2074G>A" "r.(?)" "p.(Val692Met)" "16" "0000079424" "00000028" "00" "3707" "0" "3707" "0" "c.3707C>A" "r.(?)" "p.(Ala1236Glu)" "" "0000079559" "00000028" "00" "-626700" "0" "1622244" "0" "c.-626700_*1609068del" "r.?" "p.?" "" "0000079665" "00000028" "00" "2357" "0" "2357" "0" "c.2357A>G" "r.(?)" "p.(Asn786Ser)" "" "0000222096" "00000028" "70" "3656" "4" "3656" "4" "c.3656+4C>T" "r.spl?" "p.?" "28" "0000222097" "00000028" "70" "9033" "0" "9033" "0" "c.9033del" "r.(?)" "p.(Ser3012Valfs*93)" "68" "0000248482" "00000028" "10" "12312" "0" "12312" "0" "c.12312T>C" "r.(?)" "p.(Asp4104=)" "" "0000248483" "00000028" "10" "9852" "0" "9852" "0" "c.9852T>C" "r.(?)" "p.(Ala3284=)" "" "0000248969" "00000028" "10" "7738" "-14" "7738" "-14" "c.7738-14T>C" "r.(=)" "p.(=)" "" "0000252011" "00000028" "30" "4627" "-3" "4627" "-3" "c.4627-3del" "r.spl?" "p.?" "" "0000255635" "00000028" "90" "6119" "0" "6119" "0" "c.6119del" "r.(?)" "p.(Val2040GlyfsTer23)" "" "0000255854" "00000028" "50" "1123" "0" "1123" "0" "c.1123T>C" "r.(?)" "p.(Cys375Arg)" "" "0000281431" "00000028" "10" "10617" "0" "10617" "0" "c.10617C>T" "r.(?)" "p.(Val3539=)" "" "0000281432" "00000028" "10" "10831" "-4" "10831" "-4" "c.10831-4G>A" "r.spl?" "p.?" "" "0000281433" "00000028" "10" "11562" "19" "11562" "19" "c.11562+19C>T" "r.(=)" "p.(=)" "" "0000281437" "00000028" "10" "1818" "15" "1818" "27" "c.1818+15_1818+27del" "r.(=)" "p.(=)" "" "0000281438" "00000028" "10" "1912" "0" "1912" "0" "c.1912A>G" "r.(?)" "p.(Met638Val)" "" "0000281439" "00000028" "10" "2109" "0" "2109" "0" "c.2109C>T" "r.(?)" "p.(Ala703=)" "" "0000281440" "00000028" "10" "2294" "0" "2294" "0" "c.2294A>G" "r.(?)" "p.(Asn765Ser)" "" "0000281441" "00000028" "10" "3302" "13" "3302" "13" "c.3302+13G>A" "r.(=)" "p.(=)" "" "0000281442" "00000028" "30" "3707" "0" "3707" "0" "c.3707C>A" "r.(?)" "p.(Ala1236Glu)" "" "0000281443" "00000028" "10" "3897" "0" "3897" "0" "c.3897G>A" "r.(?)" "p.(Val1299=)" "" "0000281444" "00000028" "10" "444" "0" "444" "0" "c.444G>C" "r.(?)" "p.(Leu148=)" "" "0000281445" "00000028" "10" "4508" "0" "4508" "0" "c.4508C>T" "r.(?)" "p.(Ala1503Val)" "" "0000281446" "00000028" "10" "474" "0" "474" "0" "c.474G>T" "r.(?)" "p.(Gly158=)" "" "0000281447" "00000028" "10" "7873" "25" "7873" "25" "c.7873+25A>C" "r.(=)" "p.(=)" "" "0000281448" "00000028" "10" "9766" "0" "9766" "0" "c.9766C>T" "r.(?)" "p.(His3256Tyr)" "" "0000282198" "00000028" "10" "13050" "0" "13050" "0" "c.13050A>G" "r.(?)" "p.(Ser4350=)" "" "0000282199" "00000028" "10" "12992" "0" "12992" "0" "c.12992G>A" "r.(?)" "p.(Ser4331Asn)" "" "0000282200" "00000028" "10" "12952" "0" "12952" "0" "c.12952C>A" "r.(?)" "p.(Arg4318=)" "" "0000285141" "00000028" "90" "10721" "-1" "10721" "-1" "c.10721-1G>C" "r.spl?" "p.?" "" "0000285142" "00000028" "30" "11671" "11" "11671" "11" "c.11671+11C>T" "r.(=)" "p.(=)" "" "0000285143" "00000028" "10" "12212" "0" "12212" "0" "c.12212C>T" "r.(?)" "p.(Ala4071Val)" "" "0000285144" "00000028" "30" "1999" "-13" "1999" "-13" "c.1999-13C>T" "r.(=)" "p.(=)" "" "0000285145" "00000028" "30" "3269" "0" "3269" "0" "c.3269G>A" "r.(?)" "p.(Arg1090Gln)" "" "0000285146" "00000028" "10" "5755" "0" "5755" "0" "c.5755C>T" "r.(?)" "p.(Arg1919Cys)" "" "0000285147" "00000028" "10" "5998" "-7" "5998" "-7" "c.5998-7A>G" "r.(=)" "p.(=)" "" "0000285148" "00000028" "10" "6114" "0" "6114" "0" "c.6114C>G" "r.(?)" "p.(Ile2038Met)" "" "0000285149" "00000028" "30" "7296" "0" "7296" "0" "c.7296A>T" "r.(?)" "p.(Ala2432=)" "" "0000285150" "00000028" "30" "8464" "13" "8464" "13" "c.8464+13G>C" "r.(=)" "p.(=)" "" "0000285151" "00000028" "10" "8848" "0" "8848" "0" "c.8848G>A" "r.(?)" "p.(Gly2950Arg)" "" "0000285152" "00000028" "30" "8929" "0" "8929" "0" "c.8929C>T" "r.(?)" "p.(Arg2977Trp)" "" "0000285153" "00000028" "30" "9790" "0" "9790" "0" "c.9790A>G" "r.(?)" "p.(Ile3264Val)" "" "0000289221" "00000028" "50" "10280" "0" "10280" "0" "c.10280G>A" "r.(?)" "p.(Arg3427Gln)" "" "0000289222" "00000028" "10" "10498" "0" "10498" "0" "c.10498G>A" "r.(?)" "p.(Val3500Met)" "" "0000289223" "00000028" "30" "11827" "0" "11827" "0" "c.11827G>A" "r.(?)" "p.(Ala3943Thr)" "" "0000289224" "00000028" "50" "1187" "0" "1187" "0" "c.1187A>C" "r.(?)" "p.(Asp396Ala)" "" "0000289225" "00000028" "30" "12220" "0" "12220" "0" "c.12220C>T" "r.(?)" "p.(Arg4074Cys)" "" "0000289226" "00000028" "10" "12801" "0" "12801" "0" "c.12801G>T" "r.(?)" "p.(Gly4267=)" "" "0000289227" "00000028" "90" "1939" "0" "1939" "0" "c.1939C>T" "r.(?)" "p.(Arg647Ter)" "" "0000289228" "00000028" "30" "2074" "0" "2074" "0" "c.2074G>A" "r.(?)" "p.(Val692Met)" "" "0000289229" "00000028" "30" "2890" "0" "2890" "0" "c.2890A>T" "r.(?)" "p.(Thr964Ser)" "" "0000289230" "00000028" "30" "325" "0" "325" "0" "c.325C>G" "r.(?)" "p.(Arg109Gly)" "" "0000289231" "00000028" "50" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Glu113Lys)" "" "0000289232" "00000028" "50" "415" "0" "415" "0" "c.415G>T" "r.(?)" "p.(Glu139Ter)" "" "0000289233" "00000028" "50" "416" "0" "416" "0" "c.416A>T" "r.(?)" "p.(Glu139Val)" "" "0000289234" "00000028" "50" "5110" "0" "5110" "0" "c.5110C>T" "r.(?)" "p.(Pro1704Ser)" "" "0000289235" "00000028" "10" "5442" "0" "5442" "0" "c.5442G>A" "r.(?)" "p.(Leu1814=)" "" "0000289236" "00000028" "30" "5891" "0" "5891" "0" "c.5891G>A" "r.(?)" "p.(Arg1964Lys)" "" "0000289237" "00000028" "30" "6105" "0" "6105" "0" "c.6105G>A" "r.(?)" "p.(Gln2035=)" "" "0000289238" "00000028" "50" "6205" "0" "6205" "0" "c.6205G>A" "r.(?)" "p.(Asp2069Asn)" "" "0000289239" "00000028" "30" "7929" "0" "7929" "0" "c.7929A>G" "r.(?)" "p.(Glu2643=)" "" "0000289240" "00000028" "30" "8044" "0" "8044" "0" "c.8044C>T" "r.(?)" "p.(Arg2682Trp)" "" "0000320603" "00000028" "30" "12982" "0" "12982" "0" "c.12982G>A" "r.(?)" "p.(Ala4328Thr)" "" "0000320604" "00000028" "30" "12874" "0" "12874" "0" "c.12874G>A" "r.(?)" "p.(Glu4292Lys)" "" "0000320605" "00000028" "30" "12815" "4" "12815" "4" "c.12815+4G>A" "r.spl?" "p.?" "" "0000320606" "00000028" "30" "12256" "0" "12256" "0" "c.12256C>T" "r.(?)" "p.(Arg4086Trp)" "" "0000320608" "00000028" "30" "11982" "0" "11982" "0" "c.11982G>T" "r.(?)" "p.(Glu3994Asp)" "" "0000320609" "00000028" "30" "10702" "0" "10702" "0" "c.10702G>A" "r.(?)" "p.(Val3568Ile)" "" "0000320610" "00000028" "30" "10588" "0" "10588" "0" "c.10588C>T" "r.(?)" "p.(Arg3530Trp)" "" "0000320612" "00000028" "50" "10204" "0" "10204" "0" "c.10204G>A" "r.(?)" "p.(Val3402Met)" "" "0000320613" "00000028" "70" "9832" "0" "9832" "0" "c.9832T>G" "r.(?)" "p.(Cys3278Gly)" "" "0000320615" "00000028" "30" "9203" "0" "9203" "0" "c.9203A>T" "r.(?)" "p.(His3068Leu)" "" "0000320616" "00000028" "30" "8848" "0" "8848" "0" "c.8848G>A" "r.(?)" "p.(Gly2950Arg)" "" "0000320617" "00000028" "50" "8576" "0" "8576" "0" "c.8576C>T" "r.(?)" "p.(Thr2859Met)" "" "0000320618" "00000028" "30" "7337" "0" "7337" "0" "c.7337C>T" "r.(?)" "p.(Ser2446Leu)" "" "0000320620" "00000028" "30" "5998" "-7" "5998" "-7" "c.5998-7A>G" "r.(=)" "p.(=)" "" "0000320621" "00000028" "30" "5891" "0" "5891" "0" "c.5891G>A" "r.(?)" "p.(Arg1964Lys)" "" "0000320625" "00000028" "50" "4910" "0" "4910" "0" "c.4910G>A" "r.(?)" "p.(Arg1637His)" "" "0000320626" "00000028" "30" "4877" "0" "4877" "0" "c.4877G>A" "r.(?)" "p.(Arg1626His)" "" "0000320627" "00000028" "50" "4601" "0" "4601" "0" "c.4601C>G" "r.(?)" "p.(Pro1534Arg)" "" "0000320629" "00000028" "50" "2998" "0" "2998" "0" "c.2998G>A" "r.(?)" "p.(Asp1000Asn)" "" "0000320630" "00000028" "70" "2195" "1" "2195" "1" "c.2195+1G>T" "r.spl?" "p.?" "" "0000320631" "00000028" "30" "1259" "0" "1259" "0" "c.1259G>A" "r.(?)" "p.(Arg420Gln)" "" "0000320632" "00000028" "30" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Glu113Lys)" "" "0000320633" "00000028" "30" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Asp37Asn)" "" "0000337523" "00000028" "90" "11671" "1" "11671" "1" "c.11671+1G>T" "r.spl?" "p.?" "" "0000348322" "00000028" "50" "7684" "0" "7684" "0" "c.7684C>T" "r.(?)" "p.(Pro2562Ser)" "" "0000351048" "00000028" "10" "11562" "19" "11562" "19" "c.11562+19C>T" "r.(=)" "p.(=)" "" "0000369271" "00000028" "70" "7006" "1" "7006" "1" "c.7006+1G>A" "r.spl" "p.?" "54i" "0000369272" "00000028" "50" "4391" "0" "4391" "0" "c.4391G>A" "r.(?)" "p.(Arg1464Gln)" "35" "0000505498" "00000028" "50" "13145" "0" "13145" "0" "c.13145C>A" "r.(?)" "p.(Ala4382Asp)" "" "0000505499" "00000028" "30" "13004" "-4" "13004" "-4" "c.13004-4G>A" "r.spl?" "p.?" "" "0000505500" "00000028" "30" "13002" "0" "13002" "0" "c.13002C>T" "r.(?)" "p.(Ile4334=)" "" "0000505502" "00000028" "50" "12580" "0" "12580" "0" "c.12580G>A" "r.(?)" "p.(Gly4194Arg)" "" "0000505503" "00000028" "30" "12487" "0" "12487" "0" "c.12487C>T" "r.(?)" "p.(Arg4163Cys)" "" "0000505505" "00000028" "30" "12329" "0" "12329" "0" "c.12329G>A" "r.(?)" "p.(Arg4110His)" "" "0000505506" "00000028" "30" "12284" "0" "12284" "0" "c.12284G>A" "r.(?)" "p.(Gly4095Asp)" "" "0000505509" "00000028" "30" "11959" "0" "11959" "0" "c.11959G>A" "r.(?)" "p.(Gly3987Ser)" "" "0000505511" "00000028" "30" "11671" "5" "11671" "5" "c.11671+5G>A" "r.spl?" "p.?" "" "0000505512" "00000028" "30" "11648" "0" "11648" "0" "c.11648C>G" "r.(?)" "p.(Ser3883Trp)" "" "0000505513" "00000028" "30" "11608" "0" "11608" "0" "c.11608G>A" "r.(?)" "p.(Val3870Ile)" "" "0000505515" "00000028" "30" "11475" "0" "11475" "0" "c.11475C>T" "r.(?)" "p.(Ile3825=)" "" "0000505516" "00000028" "30" "11402" "0" "11402" "0" "c.11402A>G" "r.(?)" "p.(Tyr3801Cys)" "" "0000505517" "00000028" "10" "11187" "0" "11187" "0" "c.11187G>T" "r.(?)" "p.(Val3729=)" "" "0000505518" "00000028" "30" "11133" "0" "11133" "0" "c.11133G>A" "r.(?)" "p.(Gly3711=)" "" "0000505520" "00000028" "50" "11018" "0" "11018" "0" "c.11018T>C" "r.(?)" "p.(Phe3673Ser)" "" "0000505522" "00000028" "30" "10937" "0" "10937" "0" "c.10937G>A" "r.(?)" "p.(Arg3646His)" "" "0000505525" "00000028" "30" "10498" "0" "10498" "0" "c.10498G>A" "r.(?)" "p.(Val3500Met)" "" "0000505526" "00000028" "10" "10248" "0" "10248" "0" "c.10248C>T" "r.(?)" "p.(Ser3416=)" "" "0000505528" "00000028" "50" "10175" "0" "10175" "0" "c.10175C>T" "r.(?)" "p.(Thr3392Ile)" "" "0000505530" "00000028" "10" "10045" "0" "10045" "0" "c.10045C>G" "r.(?)" "p.(Leu3349Val)" "" "0000505532" "00000028" "50" "9872" "0" "9872" "0" "c.9872T>C" "r.(?)" "p.(Ile3291Thr)" "" "0000505535" "00000028" "10" "9732" "0" "9732" "0" "c.9732C>T" "r.(?)" "p.(His3244=)" "" "0000505536" "00000028" "30" "9719" "0" "9719" "0" "c.9719C>T" "r.(?)" "p.(Ala3240Val)" "" "0000505538" "00000028" "30" "9476" "0" "9476" "0" "c.9476G>A" "r.(?)" "p.(Arg3159Gln)" "" "0000505539" "00000028" "30" "9329" "-7" "9329" "-7" "c.9329-7C>T" "r.(=)" "p.(=)" "" "0000505540" "00000028" "30" "9329" "-8" "9329" "-8" "c.9329-8C>T" "r.(=)" "p.(=)" "" "0000505542" "00000028" "50" "9071" "0" "9071" "0" "c.9071T>C" "r.(?)" "p.(Ile3024Thr)" "" "0000505543" "00000028" "50" "8962" "0" "8962" "0" "c.8962G>A" "r.(?)" "p.(Glu2988Lys)" "" "0000505544" "00000028" "30" "8956" "0" "8956" "0" "c.8956T>C" "r.(?)" "p.(Ser2986Pro)" "" "0000505545" "00000028" "10" "8939" "0" "8939" "0" "c.8939T>A" "r.(?)" "p.(Leu2980His)" "" "0000505546" "00000028" "30" "8929" "0" "8929" "0" "c.8929C>T" "r.(?)" "p.(Arg2977Trp)" "" "0000505547" "00000028" "30" "8839" "0" "8839" "0" "c.8839G>A" "r.(?)" "p.(Val2947Met)" "" "0000505548" "00000028" "30" "8605" "0" "8605" "0" "c.8605G>C" "r.(?)" "p.(Ala2869Pro)" "" "0000505549" "00000028" "30" "8545" "0" "8545" "0" "c.8545G>T" "r.(?)" "p.(Val2849Leu)" "" "0000505550" "00000028" "30" "8545" "0" "8545" "0" "c.8545G>T" "r.(?)" "p.(Val2849Leu)" "" "0000505551" "00000028" "50" "8487" "0" "8487" "0" "c.8487C>G" "r.(?)" "p.(Ile2829Met)" "" "0000505553" "00000028" "30" "8380" "0" "8380" "0" "c.8380C>T" "r.(?)" "p.(Arg2794Trp)" "" "0000505554" "00000028" "30" "8330" "0" "8330" "0" "c.8330G>A" "r.(?)" "p.(Arg2777Gln)" "" "0000505555" "00000028" "50" "8212" "0" "8212" "0" "c.8212G>A" "r.(?)" "p.(Val2738Met)" "" "0000505556" "00000028" "30" "8157" "0" "8157" "0" "c.8157C>T" "r.(?)" "p.(Ser2719=)" "" "0000505557" "00000028" "30" "8044" "0" "8044" "0" "c.8044C>T" "r.(?)" "p.(Arg2682Trp)" "" "0000505558" "00000028" "10" "8026" "-5" "8026" "-5" "c.8026-5T>C" "r.spl?" "p.?" "" "0000505559" "00000028" "30" "7826" "0" "7826" "0" "c.7826G>A" "r.(?)" "p.(Arg2609Gln)" "" "0000505560" "00000028" "50" "7709" "0" "7709" "0" "c.7709G>T" "r.(?)" "p.(Arg2570Leu)" "" "0000505561" "00000028" "30" "7532" "0" "7532" "0" "c.7532C>T" "r.(?)" "p.(Thr2511Ile)" "" "0000505563" "00000028" "30" "7240" "0" "7240" "0" "c.7240G>A" "r.(?)" "p.(Val2414Met)" "" "0000505564" "00000028" "50" "7193" "0" "7193" "0" "c.7193C>T" "r.(?)" "p.(Ser2398Phe)" "" "0000505566" "00000028" "30" "6681" "0" "6681" "0" "c.6681A>G" "r.(?)" "p.(Leu2227=)" "" "0000505567" "00000028" "10" "6673" "0" "6673" "0" "c.6673G>A" "r.(?)" "p.(Gly2225Ser)" "" "0000505568" "00000028" "30" "6584" "0" "6584" "0" "c.6584G>A" "r.(?)" "p.(Arg2195Gln)" "" "0000505569" "00000028" "30" "6541" "0" "6541" "0" "c.6541G>A" "r.(?)" "p.(Ala2181Thr)" "" "0000505571" "00000028" "30" "6428" "0" "6428" "0" "c.6428G>A" "r.(?)" "p.(Ser2143Asn)" "" "0000505572" "00000028" "50" "6136" "0" "6136" "0" "c.6136T>C" "r.(?)" "p.(Ser2046Pro)" "" "0000505573" "00000028" "30" "6133" "4" "6133" "4" "c.6133+4C>T" "r.spl?" "p.?" "" "0000505574" "00000028" "30" "6114" "0" "6114" "0" "c.6114C>G" "r.(?)" "p.(Ile2038Met)" "" "0000505576" "00000028" "10" "5899" "0" "5899" "0" "c.5899G>A" "r.(?)" "p.(Val1967Ile)" "" "0000505578" "00000028" "30" "5755" "0" "5755" "0" "c.5755C>T" "r.(?)" "p.(Arg1919Cys)" "" "0000505579" "00000028" "30" "5743" "0" "5743" "0" "c.5743G>A" "r.(?)" "p.(Gly1915Ser)" "" "0000505580" "00000028" "30" "5702" "-5" "5702" "-5" "c.5702-5G>A" "r.spl?" "p.?" "" "0000505581" "00000028" "50" "5648" "0" "5648" "0" "c.5648C>T" "r.(?)" "p.(Ala1883Val)" "" "0000505583" "00000028" "50" "5407" "0" "5407" "0" "c.5407A>G" "r.(?)" "p.(Thr1803Ala)" "" "0000505587" "00000028" "30" "5135" "0" "5135" "0" "c.5135G>A" "r.(?)" "p.(Arg1712His)" "" "0000505588" "00000028" "30" "5115" "0" "5115" "0" "c.5115C>G" "r.(?)" "p.(Pro1705=)" "" "0000505590" "00000028" "50" "4909" "0" "4909" "0" "c.4909C>T" "r.(?)" "p.(Arg1637Cys)" "" "0000505592" "00000028" "30" "4627" "-3" "4627" "-3" "c.4627-3del" "r.spl?" "p.?" "" "0000505593" "00000028" "30" "4568" "0" "4568" "0" "c.4568G>A" "r.(?)" "p.(Arg1523His)" "" "0000505594" "00000028" "30" "4519" "0" "4519" "0" "c.4519A>G" "r.(?)" "p.(Ser1507Gly)" "" "0000505595" "00000028" "50" "4489" "0" "4489" "0" "c.4489T>A" "r.(?)" "p.(Phe1497Ile)" "" "0000505597" "00000028" "50" "4317" "0" "4317" "0" "c.4317C>T" "r.(?)" "p.(Gly1439=)" "" "0000505598" "00000028" "30" "3967" "0" "3967" "0" "c.3967C>G" "r.(?)" "p.(Leu1323Val)" "" "0000505599" "00000028" "30" "3888" "8" "3888" "8" "c.3888+8C>T" "r.(=)" "p.(=)" "" "0000505600" "00000028" "30" "3707" "0" "3707" "0" "c.3707C>T" "r.(?)" "p.(Ala1236Val)" "" "0000505601" "00000028" "30" "3707" "0" "3707" "0" "c.3707C>A" "r.(?)" "p.(Ala1236Glu)" "" "0000505602" "00000028" "30" "3688" "0" "3688" "0" "c.3688G>A" "r.(?)" "p.(Gly1230Ser)" "" "0000505603" "00000028" "30" "3557" "0" "3557" "0" "c.3557G>A" "r.(?)" "p.(Arg1186Gln)" "" "0000505606" "00000028" "30" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Pro1019Leu)" "" "0000505607" "00000028" "30" "2869" "0" "2869" "0" "c.2869A>C" "r.(?)" "p.(Asn957His)" "" "0000505609" "00000028" "30" "2755" "0" "2755" "0" "c.2755G>A" "r.(?)" "p.(Asp919Asn)" "" "0000505610" "00000028" "50" "2725" "0" "2725" "0" "c.2725G>A" "r.(?)" "p.(Gly909Ser)" "" "0000505612" "00000028" "30" "2596" "0" "2596" "0" "c.2596G>A" "r.(?)" "p.(Gly866Ser)" "" "0000505613" "00000028" "30" "2549" "0" "2549" "0" "c.2549G>A" "r.(?)" "p.(Arg850His)" "" "0000505614" "00000028" "50" "2521" "0" "2521" "0" "c.2521G>T" "r.(?)" "p.(Ala841Ser)" "" "0000505615" "00000028" "50" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Arg823Cys)" "" "0000505616" "00000028" "30" "2357" "0" "2357" "0" "c.2357A>G" "r.(?)" "p.(Asn786Ser)" "" "0000505617" "00000028" "30" "2049" "0" "2049" "0" "c.2049G>A" "r.(?)" "p.(Leu683=)" "" "0000505619" "00000028" "50" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Val635Met)" "" "0000505620" "00000028" "30" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Val618Met)" "" "0000505621" "00000028" "50" "1843" "0" "1843" "0" "c.1843C>T" "r.(?)" "p.(Arg615Cys)" "" "0000505622" "00000028" "50" "1628" "0" "1628" "0" "c.1628G>A" "r.(?)" "p.(Arg543His)" "" "0000505625" "00000028" "90" "1267" "0" "1270" "0" "c.1267_1270del" "r.(?)" "p.(Thr423Ter)" "" "0000505626" "00000028" "30" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Arg413Gln)" "" "0000505627" "00000028" "30" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Arg413Gln)" "" "0000505629" "00000028" "30" "1082" "0" "1082" "0" "c.1082C>A" "r.(?)" "p.(Thr361Asn)" "" "0000505630" "00000028" "30" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Asp301Asn)" "" "0000505632" "00000028" "10" "324" "0" "324" "0" "c.324C>T" "r.(?)" "p.(Phe108=)" "" "0000505633" "00000028" "30" "204" "0" "204" "0" "c.204C>A" "r.(?)" "p.(Asp68Glu)" "" "0000605197" "00000028" "30" "11123" "0" "11123" "0" "c.11123G>A" "r.(?)" "p.(Arg3708Gln)" "" "0000605198" "00000028" "30" "7337" "0" "7337" "0" "c.7337C>T" "r.(?)" "p.(Ser2446Leu)" "" "0000605199" "00000028" "30" "7296" "0" "7296" "0" "c.7296A>T" "r.(?)" "p.(Ala2432=)" "" "0000605201" "00000028" "30" "6602" "0" "6602" "0" "c.6602C>T" "r.(?)" "p.(Ser2201Leu)" "" "0000605202" "00000028" "30" "6141" "0" "6141" "0" "c.6141T>C" "r.(?)" "p.(Asp2047=)" "" "0000605203" "00000028" "30" "5545" "0" "5545" "0" "c.5545G>A" "r.(?)" "p.(Asp1849Asn)" "" "0000605204" "00000028" "30" "4916" "0" "4916" "0" "c.4916C>T" "r.(?)" "p.(Thr1639Met)" "" "0000605205" "00000028" "50" "3505" "0" "3505" "0" "c.3505G>A" "r.(?)" "p.(Glu1169Lys)" "" "0000605206" "00000028" "90" "3119" "0" "3120" "0" "c.3119_3120dup" "r.(?)" "p.(His1041SerfsTer39)" "" "0000605207" "00000028" "30" "2335" "0" "2335" "0" "c.2335C>T" "r.(?)" "p.(His779Tyr)" "" "0000605208" "00000028" "50" "2335" "0" "2335" "0" "c.2335C>T" "r.(?)" "p.(His779Tyr)" "" "0000605209" "00000028" "30" "745" "0" "745" "0" "c.745G>A" "r.(?)" "p.(Val249Met)" "" "0000605210" "00000028" "30" "732" "0" "732" "0" "c.732A>G" "r.(?)" "p.(Thr244=)" "" "0000620509" "00000028" "50" "12059" "0" "12059" "0" "c.12059G>A" "r.(?)" "p.(Arg4020His)" "" "0000620510" "00000028" "30" "11958" "0" "11958" "0" "c.11958C>T" "r.(?)" "p.(Gly3986=)" "" "0000620511" "00000028" "30" "11502" "0" "11502" "0" "c.11502C>T" "r.(?)" "p.(Asp3834=)" "" "0000620512" "00000028" "50" "11242" "0" "11242" "0" "c.11242C>T" "r.(?)" "p.(His3748Tyr)" "" "0000620513" "00000028" "50" "9433" "0" "9433" "0" "c.9433C>T" "r.(?)" "p.(Arg3145Cys)" "" "0000620514" "00000028" "30" "8457" "0" "8457" "0" "c.8457C>T" "r.(?)" "p.(His2819=)" "" "0000620515" "00000028" "50" "8254" "0" "8254" "0" "c.8254G>A" "r.(?)" "p.(Gly2752Arg)" "" "0000620516" "00000028" "50" "7826" "0" "7826" "0" "c.7826G>A" "r.(?)" "p.(Arg2609Gln)" "" "0000620517" "00000028" "50" "7210" "0" "7233" "0" "c.7210_7233del" "r.(?)" "p.(Glu2404_Gly2411del)" "" "0000620518" "00000028" "30" "6629" "0" "6629" "0" "c.6629C>T" "r.(?)" "p.(Pro2210Leu)" "" "0000620520" "00000028" "30" "5160" "0" "5160" "0" "c.5160C>T" "r.(?)" "p.(Ser1720=)" "" "0000620521" "00000028" "30" "3707" "0" "3707" "0" "c.3707C>T" "r.(?)" "p.(Ala1236Val)" "" "0000620522" "00000028" "50" "3029" "0" "3029" "0" "c.3029G>A" "r.(?)" "p.(Arg1010His)" "" "0000620523" "00000028" "50" "2966" "0" "2966" "0" "c.2966A>G" "r.(?)" "p.(Tyr989Cys)" "" "0000647582" "00000028" "30" "12212" "0" "12212" "0" "c.12212C>T" "r.(?)" "p.(Ala4071Val)" "" "0000647583" "00000028" "10" "10498" "0" "10498" "0" "c.10498G>A" "r.(?)" "p.(Val3500Met)" "" "0000647584" "00000028" "30" "9790" "0" "9790" "0" "c.9790A>G" "r.(?)" "p.(Ile3264Val)" "" "0000647586" "00000028" "50" "8848" "0" "8848" "0" "c.8848G>A" "r.(?)" "p.(Gly2950Arg)" "" "0000647588" "00000028" "50" "6935" "0" "6935" "0" "c.6935G>A" "r.(?)" "p.(Arg2312Gln)" "" "0000647589" "00000028" "50" "4489" "0" "4489" "0" "c.4489T>A" "r.(?)" "p.(Phe1497Ile)" "" "0000647590" "00000028" "50" "4234" "0" "4234" "0" "c.4234G>A" "r.(?)" "p.(Gly1412Ser)" "" "0000647591" "00000028" "30" "2462" "0" "2462" "0" "c.2462C>T" "r.(?)" "p.(Ala821Val)" "" "0000647592" "00000028" "50" "2357" "0" "2357" "0" "c.2357A>G" "r.(?)" "p.(Asn786Ser)" "" "0000647593" "00000028" "50" "2074" "0" "2074" "0" "c.2074G>A" "r.(?)" "p.(Val692Met)" "" "0000653902" "00000028" "50" "12581" "0" "12581" "0" "c.12581G>T" "r.(?)" "p.(Gly4194Val)" "" "0000653903" "00000028" "30" "9291" "0" "9291" "0" "c.9291C>T" "r.(?)" "p.(Tyr3097=)" "" "0000653904" "00000028" "30" "8776" "0" "8776" "0" "c.8776C>A" "r.(?)" "p.(Pro2926Thr)" "" "0000653906" "00000028" "30" "8545" "0" "8545" "0" "c.8545G>T" "r.(?)" "p.(Val2849Leu)" "" "0000653907" "00000028" "50" "7216" "0" "7216" "0" "c.7216G>A" "r.(?)" "p.(Val2406Met)" "" "0000653908" "00000028" "30" "4221" "6" "4221" "6" "c.4221+6C>T" "r.(=)" "p.(=)" "" "0000653910" "00000028" "30" "3337" "0" "3337" "0" "c.3337G>A" "r.(?)" "p.(Glu1113Lys)" "" "0000653911" "00000028" "30" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Arg413Gln)" "" "0000653912" "00000028" "50" "907" "0" "907" "0" "c.907C>T" "r.(?)" "p.(Leu303Phe)" "" "0000669001" "00000028" "30" "12212" "0" "12212" "0" "c.12212C>T" "r.(?)" "p.(Ala4071Val)" "" "0000675667" "00000028" "50" "9564" "0" "9564" "0" "c.9564G>C" "r.(?)" "p.(Gln3188His)" "" "0000675668" "00000028" "50" "8903" "0" "8903" "0" "c.8903G>A" "r.(?)" "p.(Arg2968Gln)" "" "0000675669" "00000028" "50" "8381" "0" "8381" "0" "c.8381G>A" "r.(?)" "p.(Arg2794Gln)" "" "0000675670" "00000028" "30" "7096" "0" "7096" "0" "c.7096G>A" "r.(?)" "p.(Gly2366Arg)" "" "0000675671" "00000028" "50" "5705" "0" "5705" "0" "c.5705G>A" "r.(?)" "p.(Gly1902Asp)" "" "0000675672" "00000028" "30" "4917" "0" "4917" "0" "c.4917G>C" "r.(?)" "p.(Thr1639=)" "" "0000675673" "00000028" "30" "1707" "0" "1707" "0" "c.1707G>C" "r.(?)" "p.(Thr569=)" "" "0000688029" "00000028" "30" "12981" "0" "12981" "0" "c.12981C>T" "r.(?)" "p.(Asn4327=)" "" "0000688030" "00000028" "50" "11278" "0" "11278" "0" "c.11278G>A" "r.(?)" "p.(Val3760Met)" "" "0000688031" "00000028" "50" "11077" "0" "11077" "0" "c.11077C>T" "r.(?)" "p.(Arg3693Trp)" "" "0000688032" "00000028" "30" "10677" "0" "10677" "0" "c.10677C>T" "r.(?)" "p.(Asn3559=)" "" "0000688033" "00000028" "30" "7730" "0" "7730" "0" "c.7730G>A" "r.(?)" "p.(Arg2577Gln)" "" "0000688034" "00000028" "30" "7191" "0" "7191" "0" "c.7191G>A" "r.(?)" "p.(Ala2397=)" "" "0000688035" "00000028" "30" "3744" "-8" "3744" "-8" "c.3744-8C>T" "r.(=)" "p.(=)" "" "0000699708" "00000028" "50" "3888" "109" "3888" "109" "c.3888+109G>T" "r.(?)" "p.(=)" "" "0000717178" "00000028" "30" "12982" "0" "12982" "0" "c.12982G>A" "r.(?)" "p.(Ala4328Thr)" "" "0000717179" "00000028" "50" "12884" "0" "12884" "0" "c.12884G>A" "r.(?)" "p.(Arg4295Gln)" "" "0000717180" "00000028" "30" "12426" "0" "12426" "0" "c.12426C>T" "r.(?)" "p.(His4142=)" "" "0000717181" "00000028" "30" "12072" "0" "12072" "0" "c.12072C>T" "r.(?)" "p.(Asp4024=)" "" "0000717182" "00000028" "50" "11155" "0" "11155" "0" "c.11155C>T" "r.(?)" "p.(Arg3719Trp)" "" "0000717183" "00000028" "50" "10127" "0" "10127" "0" "c.10127C>A" "r.(?)" "p.(Ala3376Asp)" "" "0000717184" "00000028" "50" "9859" "0" "9859" "0" "c.9859G>A" "r.(?)" "p.(Ala3287Thr)" "" "0000717185" "00000028" "50" "9564" "0" "9564" "0" "c.9564G>C" "r.(?)" "p.(Gln3188His)" "" "0000717186" "00000028" "50" "9050" "0" "9050" "0" "c.9050A>G" "r.(?)" "p.(Tyr3017Cys)" "" "0000717187" "00000028" "50" "8776" "0" "8776" "0" "c.8776C>A" "r.(?)" "p.(Pro2926Thr)" "" "0000717188" "00000028" "50" "8512" "0" "8512" "0" "c.8512G>C" "r.(?)" "p.(Val2838Leu)" "" "0000717189" "00000028" "30" "8381" "0" "8381" "0" "c.8381G>A" "r.(?)" "p.(Arg2794Gln)" "" "0000717190" "00000028" "30" "8212" "0" "8212" "0" "c.8212G>A" "r.(?)" "p.(Val2738Met)" "" "0000717191" "00000028" "30" "8151" "0" "8151" "0" "c.8151C>A" "r.(?)" "p.(Ala2717=)" "" "0000717192" "00000028" "50" "7684" "0" "7684" "0" "c.7684C>T" "r.(?)" "p.(Pro2562Ser)" "" "0000717193" "00000028" "30" "7235" "0" "7235" "0" "c.7235G>A" "r.(?)" "p.(Ser2412Asn)" "" "0000717194" "00000028" "50" "6808" "0" "6808" "0" "c.6808G>A" "r.(?)" "p.(Gly2270Arg)" "" "0000717195" "00000028" "50" "5546" "0" "5546" "0" "c.5546A>G" "r.(?)" "p.(Asp1849Gly)" "" "0000717196" "00000028" "50" "4313" "0" "4313" "0" "c.4313C>T" "r.(?)" "p.(Thr1438Met)" "" "0000717197" "00000028" "50" "3843" "0" "3843" "0" "c.3843C>T" "r.(?)" "p.(Gly1281=)" "" "0000717198" "00000028" "30" "3707" "0" "3707" "0" "c.3707C>A" "r.(?)" "p.(Ala1236Glu)" "" "0000717199" "00000028" "50" "3577" "0" "3577" "0" "c.3577G>A" "r.(?)" "p.(Gly1193Arg)" "" "0000717200" "00000028" "50" "3505" "0" "3505" "0" "c.3505G>A" "r.(?)" "p.(Glu1169Lys)" "" "0000717201" "00000028" "30" "3324" "0" "3324" "0" "c.3324C>T" "r.(?)" "p.(Asp1108=)" "" "0000717202" "00000028" "30" "2628" "0" "2628" "0" "c.2628T>A" "r.(?)" "p.(Ile876=)" "" "0000717203" "00000028" "30" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Leu519=)" "" "0000717204" "00000028" "30" "1454" "0" "1454" "0" "c.1454G>A" "r.(?)" "p.(Arg485Gln)" "" "0000717205" "00000028" "30" "598" "0" "598" "0" "c.598A>T" "r.(?)" "p.(Thr200Ser)" "" "0000729979" "00000028" "90" "11208" "-7" "11208" "-7" "c.11208-7G>A" "r.(=)" "p.(=)" "" "0000729980" "00000028" "90" "11000" "0" "11000" "0" "c.11000C>T" "r.(?)" "p.(Thr3667Met)" "" "0000729981" "00000028" "90" "10894" "0" "10894" "0" "c.10894C>T" "r.(?)" "p.(Arg3632*)" "" "0000729982" "00000028" "90" "9970" "0" "9970" "0" "c.9970G>A" "r.(?)" "p.(Gly3324Arg)" "" "0000760993" "00000028" "70" "8553" "0" "8553" "0" "c.8553del" "r.(?)" "p.(Gln2853ArgfsTer26)" "" "0000761001" "00000028" "90" "12532" "1" "12532" "1" "c.12532+1G>T" "r.spl" "p.?" "" "0000794141" "00000028" "70" "12238" "0" "12238" "0" "c.12238G>A" "r.(?)" "p.(Val4080Met)" "" "0000794148" "00000028" "70" "1940" "0" "1940" "0" "c.1940G>A" "r.(?)" "p.(Arg647Gln)" "" "0000799118" "00000028" "30" "13018" "0" "13018" "0" "c.13018G>A" "r.(?)" "p.(Val4340Met)" "" "0000799119" "00000028" "50" "11018" "0" "11018" "0" "c.11018T>C" "r.(?)" "p.(Phe3673Ser)" "" "0000799120" "00000028" "30" "7086" "0" "7086" "0" "c.7086C>T" "r.(?)" "p.(Cys2362=)" "" "0000799121" "00000028" "50" "6094" "0" "6094" "0" "c.6094G>A" "r.(?)" "p.(Gly2032Ser)" "" "0000799122" "00000028" "50" "5206" "0" "5206" "0" "c.5206G>A" "r.(?)" "p.(Val1736Ile)" "" "0000799123" "00000028" "30" "3269" "0" "3269" "0" "c.3269G>A" "r.(?)" "p.(Arg1090Gln)" "" "0000799124" "00000028" "30" "2685" "8" "2685" "8" "c.2685+8T>G" "r.(=)" "p.(=)" "" "0000817733" "00000028" "50" "6634" "0" "6634" "0" "c.6634G>A" "r.(?)" "p.(Asp2212Asn)" "" "0000848539" "00000028" "50" "13094" "0" "13094" "0" "c.13094G>A" "r.(?)" "p.(Arg4365Gln)" "" "0000848540" "00000028" "30" "10677" "0" "10677" "0" "c.10677C>T" "r.(?)" "p.(Asn3559=)" "" "0000848541" "00000028" "30" "10204" "0" "10204" "0" "c.10204G>A" "r.(?)" "p.(Val3402Met)" "" "0000848542" "00000028" "30" "9710" "-10" "9710" "-10" "c.9710-10G>A" "r.(=)" "p.(=)" "" "0000848543" "00000028" "30" "8470" "0" "8470" "0" "c.8470G>A" "r.(?)" "p.(Gly2824Ser)" "" "0000848544" "00000028" "30" "7071" "0" "7071" "0" "c.7071C>T" "r.(?)" "p.(Thr2357=)" "" "0000848545" "00000028" "30" "7053" "0" "7053" "0" "c.7053A>G" "r.(?)" "p.(Gln2351=)" "" "0000848546" "00000028" "30" "6469" "0" "6469" "0" "c.6469G>A" "r.(?)" "p.(Glu2157Lys)" "" "0000848547" "00000028" "30" "5297" "0" "5297" "0" "c.5297C>T" "r.(?)" "p.(Ala1766Val)" "" "0000848548" "00000028" "30" "4924" "0" "4924" "0" "c.4924G>A" "r.(?)" "p.(Glu1642Lys)" "" "0000848549" "00000028" "30" "4916" "0" "4916" "0" "c.4916C>T" "r.(?)" "p.(Thr1639Met)" "" "0000848550" "00000028" "50" "3545" "0" "3545" "0" "c.3545C>T" "r.(?)" "p.(Thr1182Met)" "" "0000848551" "00000028" "30" "1998" "9" "1998" "9" "c.1998+9C>T" "r.(=)" "p.(=)" "" "0000848552" "00000028" "30" "1450" "0" "1450" "0" "c.1450G>A" "r.(?)" "p.(Ala484Thr)" "" "0000848553" "00000028" "30" "662" "0" "662" "0" "c.662G>A" "r.(?)" "p.(Arg221Gln)" "" "0000857289" "00000028" "50" "12520" "0" "12520" "0" "c.12520C>T" "r.(?)" "p.(Arg4174Cys)" "" "0000857290" "00000028" "50" "12226" "0" "12226" "0" "c.12226T>C" "r.(?)" "p.(Cys4076Arg)" "" "0000857291" "00000028" "50" "12110" "0" "12110" "0" "c.12110G>T" "r.(?)" "p.(Arg4037Leu)" "" "0000857292" "00000028" "30" "11827" "0" "11827" "0" "c.11827G>A" "r.(?)" "p.(Ala3943Thr)" "" "0000857293" "00000028" "50" "10936" "0" "10936" "0" "c.10936C>T" "r.(?)" "p.(Arg3646Cys)" "" "0000857294" "00000028" "50" "8899" "0" "8899" "0" "c.8899G>A" "r.(?)" "p.(Ala2967Thr)" "" "0000857295" "00000028" "50" "8041" "0" "8041" "0" "c.8041C>G" "r.(?)" "p.(Leu2681Val)" "" "0000857296" "00000028" "30" "7011" "0" "7011" "0" "c.7011C>T" "r.(?)" "p.(Ala2337=)" "" "0000857297" "00000028" "50" "6610" "0" "6610" "0" "c.6610C>T" "r.(?)" "p.(Arg2204Trp)" "" "0000857298" "00000028" "50" "5434" "0" "5434" "0" "c.5434G>A" "r.(?)" "p.(Gly1812Arg)" "" "0000857299" "00000028" "30" "5433" "0" "5433" "0" "c.5433C>T" "r.(?)" "p.(Asn1811=)" "" "0000857300" "00000028" "50" "4649" "0" "4649" "0" "c.4649G>A" "r.(?)" "p.(Arg1550His)" "" "0000857301" "00000028" "50" "3731" "0" "3731" "0" "c.3731G>A" "r.(?)" "p.(Arg1244His)" "" "0000857302" "00000028" "50" "3269" "0" "3269" "0" "c.3269G>A" "r.(?)" "p.(Arg1090Gln)" "" "0000857303" "00000028" "30" "3253" "0" "3253" "0" "c.3253G>A" "r.(?)" "p.(Asp1085Asn)" "" "0000857304" "00000028" "30" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Gly754Ser)" "" "0000857305" "00000028" "30" "2074" "0" "2074" "0" "c.2074G>A" "r.(?)" "p.(Val692Met)" "" "0000857306" "00000028" "50" "2027" "0" "2027" "0" "c.2027C>T" "r.(?)" "p.(Pro676Leu)" "" "0000857307" "00000028" "50" "1082" "0" "1082" "0" "c.1082C>A" "r.(?)" "p.(Thr361Asn)" "" "0000857308" "00000028" "30" "204" "0" "204" "0" "c.204C>A" "r.(?)" "p.(Asp68Glu)" "" "0000877159" "00000028" "70" "3888" "1" "3888" "1" "c.3888+1G>A" "r.spl" "p.?" "31" "0000877160" "00000028" "50" "8464" "0" "8464" "0" "c.8464G>A" "r.(?)" "p.(Ala2822Thr)" "64" "0000883143" "00000028" "30" "13088" "0" "13088" "0" "c.13088C>T" "r.(?)" "p.(Ser4363Leu)" "" "0000883144" "00000028" "30" "13088" "0" "13088" "0" "c.13088C>T" "r.(?)" "p.(Ser4363Leu)" "" "0000883145" "00000028" "50" "12143" "0" "12143" "0" "c.12143T>C" "r.(?)" "p.(Leu4048Pro)" "" "0000883146" "00000028" "50" "12110" "0" "12110" "0" "c.12110G>T" "r.(?)" "p.(Arg4037Leu)" "" "0000883147" "00000028" "30" "11717" "0" "11717" "0" "c.11717G>A" "r.(?)" "p.(Arg3906Gln)" "" "0000883148" "00000028" "50" "11629" "0" "11629" "0" "c.11629G>A" "r.(?)" "p.(Gly3877Arg)" "" "0000883149" "00000028" "30" "11072" "0" "11072" "0" "c.11072C>T" "r.(?)" "p.(Thr3691Ile)" "" "0000883150" "00000028" "90" "10721" "-2" "10721" "-2" "c.10721-2dup" "r.spl?" "p.?" "" "0000883151" "00000028" "30" "10204" "0" "10204" "0" "c.10204G>C" "r.(?)" "p.(Val3402Leu)" "" "0000883152" "00000028" "30" "9503" "0" "9503" "0" "c.9503C>G" "r.(?)" "p.(Ala3168Gly)" "" "0000883153" "00000028" "50" "7592" "0" "7592" "0" "c.7592G>A" "r.(?)" "p.(Gly2531Asp)" "" "0000883154" "00000028" "50" "6808" "0" "6808" "0" "c.6808G>A" "r.(?)" "p.(Gly2270Arg)" "" "0000883155" "00000028" "50" "6205" "0" "6205" "0" "c.6205G>A" "r.(?)" "p.(Asp2069Asn)" "" "0000883156" "00000028" "30" "4877" "0" "4877" "0" "c.4877G>A" "r.(?)" "p.(Arg1626His)" "" "0000883157" "00000028" "30" "4647" "0" "4647" "0" "c.4647G>A" "r.(?)" "p.(Thr1549=)" "" "0000883158" "00000028" "30" "4097" "0" "4097" "0" "c.4097G>A" "r.(?)" "p.(Arg1366His)" "" "0000883159" "00000028" "50" "3551" "0" "3551" "0" "c.3551G>A" "r.(?)" "p.(Gly1184Asp)" "" "0000883160" "00000028" "30" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Pro1019Leu)" "" "0000883161" "00000028" "30" "2850" "0" "2850" "0" "c.2850T>C" "r.(?)" "p.(Pro950=)" "" "0000883162" "00000028" "50" "2633" "0" "2633" "0" "c.2633G>A" "r.(?)" "p.(Arg878His)" "" "0000883163" "00000028" "50" "1187" "0" "1187" "0" "c.1187A>C" "r.(?)" "p.(Asp396Ala)" "" "0000883164" "00000028" "30" "959" "-5" "959" "-5" "c.959-5C>T" "r.spl?" "p.?" "" "0000883165" "00000028" "30" "467" "0" "467" "0" "c.467C>T" "r.(?)" "p.(Ala156Val)" "" "0000883166" "00000028" "50" "257" "0" "257" "0" "c.257C>G" "r.(?)" "p.(Ala86Gly)" "" "0000908936" "00000028" "70" "4955" "3" "4955" "3" "c.4955+3A>T" "r.[4869_4955del,4949_4955del]" "p.[Phe1624_Gln1652del,Glu1651Valfs*35]" "" "0000910946" "00000028" "50" "11200" "0" "11200" "0" "c.11200G>A" "r.(?)" "p.(Glu3734Lys)" "" "0000910947" "00000028" "70" "7737" "2" "7737" "2" "c.7737+2T>C" "r.spl?" "p.?" "" "0000910948" "00000028" "50" "5482" "0" "5482" "0" "c.5482C>T" "r.(?)" "p.(Arg1828Cys)" "" "0000910949" "00000028" "30" "4868" "4" "4868" "4" "c.4868+4G>A" "r.spl?" "p.?" "" "0000923079" "00000028" "50" "10649" "0" "10649" "0" "c.10649C>T" "r.(?)" "p.(Ala3550Val)" "" "0000923080" "00000028" "30" "9621" "0" "9621" "0" "c.9621G>A" "r.(?)" "p.(Met3207Ile)" "" "0000923081" "00000028" "30" "4489" "0" "4489" "0" "c.4489T>A" "r.(?)" "p.(Phe1497Ile)" "" "0000928112" "00000028" "50" "7438" "0" "7438" "0" "c.7438C>T" "r.(?)" "p.(Arg2480Trp)" "" "0000928113" "00000028" "30" "6484" "0" "6484" "0" "c.6484C>T" "r.(?)" "p.(His2162Tyr)" "" "0000928114" "00000028" "30" "5433" "0" "5433" "0" "c.5433C>T" "r.(?)" "p.(Asn1811=)" "" "0000928115" "00000028" "30" "3336" "0" "3336" "0" "c.3336C>T" "r.(?)" "p.(=)" "" "0000946009" "00000028" "90" "1654" "15" "1654" "15" "c.1654+15G>A" "r.spl?" "p.?" "" "0000946117" "00000028" "50" "11586" "0" "11587" "0" "c.11586_11587del" "r.(?)" "p.(Ser3864GlnfsTer17)" "" "0000946162" "00000028" "90" "9019" "0" "9019" "0" "c.9019del" "r.(?)" "p.(Val3007SerfsTer98)" "" "0000947153" "00000028" "50" "11489" "0" "11489" "0" "c.11489T>A" "r.(?)" "p.(Ile3830Asn)" "" "0000947154" "00000028" "30" "8044" "0" "8044" "0" "c.8044C>T" "r.(?)" "p.(Arg2682Trp)" "" "0000947155" "00000028" "30" "392" "0" "392" "0" "c.392T>C" "r.(?)" "p.(Val131Ala)" "" "0000960833" "00000028" "30" "12786" "0" "12786" "0" "c.12786C>T" "r.(?)" "p.(=)" "" "0000960834" "00000028" "30" "12195" "0" "12195" "0" "c.12195G>A" "r.(?)" "p.(=)" "" "0000960843" "00000028" "50" "6841" "0" "6841" "0" "c.6841C>T" "r.(?)" "p.(Arg2281Cys)" "" "0000960851" "00000028" "30" "4740" "14" "4740" "14" "c.4740+14G>A" "r.(=)" "p.(=)" "" "0000960853" "00000028" "30" "3292" "0" "3292" "0" "c.3292G>A" "r.(?)" "p.(Ala1098Thr)" "" "0000973649" "00000028" "30" "14894" "0" "14894" "0" "c.*1718G>A" "r.(=)" "p.(=)" "" "0000973650" "00000028" "50" "12583" "0" "12583" "0" "c.12583G>A" "r.(?)" "p.(Gly4195Ser)" "" "0000973651" "00000028" "50" "12427" "0" "12427" "0" "c.12427G>A" "r.(?)" "p.(Glu4143Lys)" "" "0000973652" "00000028" "50" "12040" "0" "12040" "0" "c.12040C>A" "r.(?)" "p.(His4014Asn)" "" "0000973653" "00000028" "50" "11192" "0" "11192" "0" "c.11192del" "r.(?)" "p.(Gly3731GlufsTer30)" "" "0000973654" "00000028" "50" "10473" "0" "10473" "0" "c.10473C>T" "r.(?)" "p.(=)" "" "0000973655" "00000028" "50" "9412" "0" "9412" "0" "c.9412G>A" "r.(?)" "p.(Gly3138Arg)" "" "0000973656" "00000028" "50" "8961" "0" "8961" "0" "c.8961C>T" "r.(?)" "p.(=)" "" "0000973657" "00000028" "30" "8910" "9" "8910" "9" "c.8910+9G>T" "r.(=)" "p.(=)" "" "0000973658" "00000028" "10" "8622" "0" "8622" "0" "c.8622C>T" "r.(?)" "p.(=)" "" "0000973659" "00000028" "50" "7210" "0" "7233" "0" "c.7210_7233del" "r.(?)" "p.(Glu2404_Gly2411del)" "" "0000973660" "00000028" "30" "7026" "0" "7026" "0" "c.7026C>T" "r.(?)" "p.(=)" "" "0000973661" "00000028" "50" "6439" "5" "6439" "5" "c.6439+5G>A" "r.spl?" "p.?" "" "0000973662" "00000028" "50" "6307" "0" "6307" "0" "c.6307C>T" "r.(?)" "p.(Arg2103Trp)" "" "0000973663" "00000028" "30" "4869" "-8" "4869" "-8" "c.4869-8G>A" "r.(=)" "p.(=)" "" "0000973664" "00000028" "30" "4200" "0" "4200" "0" "c.4200G>A" "r.(?)" "p.(=)" "" "0000973665" "00000028" "30" "2558" "9" "2558" "9" "c.2558+9G>A" "r.(=)" "p.(=)" "" "0000973666" "00000028" "30" "1998" "9" "1998" "9" "c.1998+9C>T" "r.(=)" "p.(=)" "" "0000973667" "00000028" "30" "1603" "0" "1603" "0" "c.1603C>T" "r.(?)" "p.(Arg535Cys)" "" "0000973668" "00000028" "30" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Leu519=)" "" "0000973669" "00000028" "50" "1371" "0" "1371" "0" "c.1371C>A" "r.(?)" "p.(Ser457Arg)" "" "0000973670" "00000028" "50" "1048" "0" "1048" "0" "c.1048T>C" "r.(?)" "p.(Cys350Arg)" "" "0000990848" "00000028" "50" "10516" "0" "10516" "0" "c.10516G>A" "r.(?)" "p.(Val3506Met)" "" "0000990849" "00000028" "30" "8903" "0" "8903" "0" "c.8903G>A" "r.(?)" "p.(Arg2968Gln)" "" "0000990850" "00000028" "30" "8899" "0" "8899" "0" "c.8899G>A" "r.(?)" "p.(Ala2967Thr)" "" "0000990851" "00000028" "50" "8203" "0" "8203" "0" "c.8203T>G" "r.(?)" "p.(Ser2735Ala)" "" "0000990852" "00000028" "50" "7423" "0" "7423" "0" "c.7423G>C" "r.(?)" "p.(Gly2475Arg)" "" "0000990853" "00000028" "50" "6863" "0" "6863" "0" "c.6863G>A" "r.(?)" "p.(Arg2288Gln)" "" "0000990854" "00000028" "50" "5365" "0" "5365" "0" "c.5365G>A" "r.(?)" "p.(Val1789Ile)" "" "0000990855" "00000028" "50" "5347" "0" "5347" "0" "c.5347G>T" "r.(?)" "p.(Val1783Leu)" "" "0000990857" "00000028" "30" "1480" "0" "1480" "0" "c.1480G>A" "r.(?)" "p.(Gly494Ser)" "" "0000990858" "00000028" "70" "862" "0" "862" "0" "c.862del" "r.(?)" "p.(Gln288Argfs*30)" "" "0000990859" "00000028" "50" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Ala271Thr)" "" "0001013284" "00000028" "50" "11320" "0" "11320" "0" "c.11320G>A" "r.(?)" "p.(Gly3774Ser)" "" "0001029707" "00000028" "50" "9893" "0" "9893" "0" "c.9893C>T" "r.(?)" "p.(Pro3298Leu)" "" "0001031676" "00000028" "50" "13004" "-5" "13004" "-5" "c.13004-5G>A" "r.spl?" "p.?" "" "0001031677" "00000028" "10" "12558" "0" "12558" "0" "c.12558C>T" "r.(?)" "p.(=)" "" "0001031678" "00000028" "50" "12008" "0" "12008" "0" "c.12008G>A" "r.(?)" "p.(Arg4003Gln)" "" "0001031679" "00000028" "50" "12007" "0" "12007" "0" "c.12007C>T" "r.(?)" "p.(Arg4003Trp)" "" "0001031680" "00000028" "50" "11746" "0" "11746" "0" "c.11746C>T" "r.(?)" "p.(Arg3916Cys)" "" "0001031681" "00000028" "10" "11601" "0" "11601" "0" "c.11601C>T" "r.(?)" "p.(=)" "" "0001031682" "00000028" "50" "11567" "0" "11567" "0" "c.11567G>A" "r.(?)" "p.(Gly3856Asp)" "" "0001031683" "00000028" "50" "11482" "0" "11482" "0" "c.11482G>A" "r.(?)" "p.(Glu3828Lys)" "" "0001031684" "00000028" "50" "11429" "0" "11429" "0" "c.11429C>T" "r.(?)" "p.(Ala3810Val)" "" "0001031685" "00000028" "50" "11395" "0" "11395" "0" "c.11395G>T" "r.(?)" "p.(Gly3799Cys)" "" "0001031686" "00000028" "50" "11164" "0" "11164" "0" "c.11164G>A" "r.(?)" "p.(Asp3722Asn)" "" "0001031687" "00000028" "90" "10982" "0" "10982" "0" "c.10982G>A" "r.(?)" "p.(Arg3661Gln)" "" "0001031688" "00000028" "50" "10802" "0" "10802" "0" "c.10802A>G" "r.(?)" "p.(Tyr3601Cys)" "" "0001031689" "00000028" "50" "10673" "0" "10673" "0" "c.10673C>G" "r.(?)" "p.(Thr3558Ser)" "" "0001031690" "00000028" "30" "10061" "0" "10061" "0" "c.10061G>A" "r.(?)" "p.(Arg3354His)" "" "0001031691" "00000028" "70" "9589" "0" "9589" "0" "c.9589C>T" "r.(?)" "p.(Gln3197*)" "" "0001031692" "00000028" "50" "9199" "0" "9199" "0" "c.9199G>A" "r.(?)" "p.(Val3067Ile)" "" "0001031693" "00000028" "50" "8918" "0" "8918" "0" "c.8918G>A" "r.(?)" "p.(Gly2973Asp)" "" "0001031694" "00000028" "50" "8254" "0" "8254" "0" "c.8254G>A" "r.(?)" "p.(Gly2752Arg)" "" "0001031695" "00000028" "30" "8164" "0" "8164" "0" "c.8164G>A" "r.(?)" "p.(Ala2722Thr)" "" "0001031696" "00000028" "50" "7873" "0" "7873" "0" "c.7873G>A" "r.(?)" "p.(Val2625Met)" "" "0001031697" "00000028" "10" "7806" "0" "7806" "0" "c.7806C>A" "r.(?)" "p.(=)" "" "0001031699" "00000028" "50" "6946" "0" "6946" "0" "c.6946G>A" "r.(?)" "p.(Gly2316Ser)" "" "0001031700" "00000028" "10" "6552" "0" "6552" "0" "c.6552G>A" "r.(?)" "p.(=)" "" "0001031701" "00000028" "10" "6402" "0" "6402" "0" "c.6402G>A" "r.(?)" "p.(=)" "" "0001031702" "00000028" "50" "6001" "0" "6001" "0" "c.6001C>A" "r.(?)" "p.(=)" "" "0001031703" "00000028" "50" "5905" "0" "5905" "0" "c.5905G>A" "r.(?)" "p.(Ala1969Thr)" "" "0001031704" "00000028" "50" "5857" "0" "5857" "0" "c.5857G>A" "r.(?)" "p.(Gly1953Ser)" "" "0001031705" "00000028" "50" "5593" "0" "5593" "0" "c.5593G>A" "r.(?)" "p.(Ala1865Thr)" "" "0001031706" "00000028" "50" "5182" "7" "5182" "7" "c.5182+7A>G" "r.(=)" "p.(=)" "" "0001031707" "00000028" "50" "4774" "0" "4774" "0" "c.4774G>A" "r.(?)" "p.(Glu1592Lys)" "" "0001031708" "00000028" "50" "4078" "0" "4078" "0" "c.4078A>G" "r.(?)" "p.(Asn1360Asp)" "" "0001031709" "00000028" "50" "2987" "0" "2987" "0" "c.2987G>A" "r.(?)" "p.(Arg996His)" "" "0001031710" "00000028" "50" "2890" "0" "2890" "0" "c.2890A>T" "r.(?)" "p.(Thr964Ser)" "" "0001031711" "00000028" "50" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Arg823Cys)" "" "0001031712" "00000028" "50" "1933" "0" "1933" "0" "c.1933C>T" "r.(?)" "p.(Leu645Phe)" "" "0001031713" "00000028" "50" "470" "0" "470" "0" "c.470A>G" "r.(?)" "p.(Asp157Gly)" "" "0001045645" "00000028" "30" "13018" "0" "13018" "0" "c.13018G>A" "r.(?)" "p.(Val4340Met)" "" "0001045646" "00000028" "30" "12237" "18" "12237" "18" "c.12237+18G>A" "r.(=)" "p.(=)" "" "0001045647" "00000028" "50" "8689" "0" "8689" "0" "c.8689G>A" "r.(?)" "p.(Gly2897Arg)" "" "0001045648" "00000028" "30" "6141" "0" "6141" "0" "c.6141T>C" "r.(?)" "p.(Asp2047=)" "" "0001045649" "00000028" "30" "4315" "-16" "4315" "-16" "c.4315-16G>T" "r.(=)" "p.(=)" "" "0001045650" "00000028" "50" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Val635Met)" "" "0001045651" "00000028" "30" "732" "0" "732" "0" "c.732A>G" "r.(?)" "p.(Thr244=)" "" "0001048177" "00000028" "10" "8044" "0" "8044" "0" "c.8044C>T" "r.(?)" "p.(Arg2682Trp)" "" "0001048183" "00000028" "10" "12874" "0" "12874" "0" "c.12874G>A" "r.(?)" "p.(Glu4292Lys)" "" "0001049976" "00000028" "50" "13096" "0" "13096" "0" "c.13096C>T" "r.(?)" "p.(Pro4366Ser)" "" "0001049977" "00000028" "50" "12520" "0" "12520" "0" "c.12520C>T" "r.(?)" "p.(Arg4174Cys)" "" "0001049978" "00000028" "50" "12269" "0" "12269" "0" "c.12269C>A" "r.(?)" "p.(Thr4090Asn)" "" "0001049979" "00000028" "50" "11926" "0" "11926" "0" "c.11926G>A" "r.(?)" "p.(Val3976Met)" "" "0001049980" "00000028" "50" "11200" "0" "11200" "0" "c.11200G>A" "r.(?)" "p.(Glu3734Lys)" "" "0001049981" "00000028" "50" "11059" "0" "11059" "0" "c.11059G>A" "r.(?)" "p.(Glu3687Lys)" "" "0001049982" "00000028" "50" "10784" "0" "10784" "0" "c.10784C>A" "r.(?)" "p.(Pro3595His)" "" "0001049983" "00000028" "50" "10589" "0" "10589" "0" "c.10589G>A" "r.(?)" "p.(Arg3530Gln)" "" "0001049984" "00000028" "70" "10173" "0" "10173" "0" "c.10173dup" "r.(?)" "p.(Thr3392Hisfs*27)" "" "0001049985" "00000028" "50" "9364" "0" "9364" "0" "c.9364G>A" "r.(?)" "p.(Val3122Met)" "" "0001049986" "00000028" "50" "7209" "0" "7209" "0" "c.7209C>T" "r.(?)" "p.(=)" "" "0001049987" "00000028" "50" "7145" "0" "7145" "0" "c.7145C>T" "r.(?)" "p.(Pro2382Leu)" "" "0001049988" "00000028" "50" "6487" "0" "6487" "0" "c.6487G>A" "r.(?)" "p.(Val2163Met)" "" "0001049989" "00000028" "50" "5656" "0" "5656" "0" "c.5656C>T" "r.(?)" "p.(Arg1886Cys)" "" "0001049990" "00000028" "50" "4909" "0" "4909" "0" "c.4909C>T" "r.(?)" "p.(Arg1637Cys)" "" "0001049991" "00000028" "50" "4433" "0" "4433" "0" "c.4433G>A" "r.(?)" "p.(Arg1478His)" "" "0001049992" "00000028" "50" "3485" "0" "3485" "0" "c.3485A>G" "r.(?)" "p.(His1162Arg)" "" "0001049993" "00000028" "50" "2343" "0" "2343" "0" "c.2343G>A" "r.(?)" "p.(=)" "" "0001049994" "00000028" "50" "2092" "0" "2092" "0" "c.2092T>C" "r.(?)" "p.(Tyr698His)" "" "0001049995" "00000028" "50" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(Asp305Asn)" "" "0001049996" "00000028" "50" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293Cys)" "" "0001049997" "00000028" "50" "670" "0" "670" "0" "c.670G>A" "r.(?)" "p.(Asp224Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 42 "{{screeningid}}" "{{variantid}}" "0000000061" "0000000091" "0000000062" "0000000092" "0000027179" "0000050316" "0000039632" "0000067235" "0000039632" "0000067236" "0000050444" "0000079424" "0000050444" "0000079665" "0000050579" "0000079559" "0000132913" "0000222096" "0000132913" "0000222097" "0000165550" "0000369271" "0000165550" "0000369272" "0000290893" "0000647582" "0000290894" "0000647583" "0000290895" "0000647584" "0000290897" "0000647586" "0000290899" "0000647588" "0000290900" "0000647589" "0000290901" "0000647590" "0000290902" "0000647591" "0000290903" "0000647592" "0000290904" "0000647593" "0000305313" "0000669001" "0000317207" "0000699708" "0000332697" "0000729979" "0000332698" "0000729980" "0000332699" "0000729981" "0000332700" "0000729982" "0000360882" "0000760993" "0000360882" "0000761001" "0000380901" "0000794148" "0000380911" "0000794141" "0000388940" "0000817733" "0000417472" "0000877159" "0000417472" "0000877160" "0000429407" "0000908936" "0000444152" "0000946009" "0000444152" "0000946162" "0000444261" "0000946117" "0000465922" "0001029707" "0000468355" "0001048177" "0000468361" "0001048183"