### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CHRND) # 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}}" "CHRND" "cholinergic receptor, nicotinic, delta (muscle)" "2" "q37.1" "unknown" "NG_008028.1" "UD_134408348549" "" "https://www.LOVD.nl/CHRND" "" "1" "1965" "1144" "100720" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/CHRND_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2011-02-01 00:00:00" "00006" "2019-01-20 14:27:29" "00000" "2026-01-07 00:05:03" ## 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}}" "00005153" "CHRND" "transcript variant 1" "001" "NM_000751.2" "" "NP_000742.1" "" "" "" "-56" "2907" "1554" "233390870" "233401375" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00572" "LMPS" "multiple pterygium syndrome, lethal type (LMPS )" "AR" "253290" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01666" "FADS" "akinesia, fetal, deformation sequence (FADS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-27 12:54:08" "01926" "MEOAL;MMDS8" "mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy" "AR" "251900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-25 10:11:25" "04312" "CMS" "myasthenic syndrome, congenital (CMS)" "" "" "" "" "" "00006" "2015-08-28 20:21:50" "00006" "2021-12-10 21:51:32" "04315" "CMS3A" "myasthenic syndrome, congenital, type 3A, slow-channel (CMS-3A)" "AD" "616321" "" "" "" "00006" "2015-08-28 20:32:33" "00006" "2021-12-10 21:51:32" "04316" "CMS3B" "myasthenic syndrome, congenital, type 3B, fast-channel (CMS-3B)" "AR" "616322" "" "" "" "00006" "2015-08-28 20:33:35" "00006" "2021-12-10 21:51:32" "04317" "CMS3C" "myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency (CMS-3C)" "AR" "616323" "" "" "" "00006" "2015-08-28 20:35:44" "00006" "2021-12-10 21:51:32" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "CHRND" "00572" "CHRND" "04315" "CHRND" "04316" "CHRND" "04317" ## Individuals ## Do not remove or alter this header ## ## Count = 47 "{{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}}" "00035221" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035222" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035223" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035224" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035225" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035226" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035227" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00152961" "" "" "" "5" "" "00006" "{PMID:Sine 1995:7619526}" "3-generation family, 5 affected (2F, 3M)" "F;M" "" "Germany" "" "0" "" "" "" "FamPat1" "00152962" "" "" "" "3" "" "00006" "{PMID:Engel 1996:8872460}" "3-generation family, affected girl/mother/grandmother" "F" "" "United States" ">30y" "0" "" "" "" "" "00152984" "" "" "" "1" "" "00006" "{PMID:Engel 1996:8872460}" "2-generation family, affected boy" "M" "" "United States" ">16y" "0" "" "" "" "" "00152986" "" "" "" "2" "" "00006" "{PMID:Ohno 1997:9158150}" "3-generation family, affected brother/sister" "" "" "" "" "0" "" "" "" "" "00152987" "" "" "" "2" "" "00006" "{PMID:Ohno 1997:9158150}" "2-generation family, 2 affected brothers" "M" "" "" "" "0" "" "" "" "" "00152988" "" "" "" "1" "" "00006" "{PMID:Ohno 1999:10382905}" "2-generation family, affected brother/sister, unaffected carrier parents" "M" "" "Turkey" ">12y" "0" "" "" "" "" "00152989" "" "" "" "1" "" "00006" "{PMID:Ohno 1999:10382905}" "2-generation family, affected brother/sister, unaffected carrier parents" "F" "" "Turkey" ">14y" "0" "" "" "" "" "00152990" "" "" "" "3" "" "00006" "{PMID:Ohno 1999:10382905}" "unaffected carrier parents and brother" "" "" "Turkey" "" "0" "" "" "" "" "00152994" "" "" "" "1" "" "00006" "{PMID:Sine 1995:7619526}" "" "" "" "Germany" "" "0" "" "" "" "" "00153063" "" "" "" "1" "" "00006" "{PMID:Engel 1996:8872460}" "3-generation family, affected girl" "F" "" "United States" ">19y" "0" "" "" "" "" "00153064" "" "" "" "1" "" "00006" "{PMID:Brownlow 2001:11435464}" "2-generation family, unaffected carrier parents" "F" "" "United Kingdom (Great Britain)" ">6y" "0" "" "" "" "" "00153065" "" "" "" "1" "" "00006" "{PMID:Gomez 2002:11782989}" "" "M" "" "United States" ">15y" "0" "" "" "" "" "00153066" "" "" "" "1" "" "00513" "{PMID:Muller 2006:16916845}" "2-generation family, unaffected carrier parents and brother" "M" "" "Germany" ">7y" "0" "" "" "" "" "00153067" "" "" "" "4" "" "00006" "{PMID:Michalk 2008:18252226}" "2-generation family, 4 affecteds" "" "" "Germany" "" "0" "" "" "" "" "00153068" "" "" "" "2" "" "00006" "{PMID:Michalk 2008:18252226}" "5-generation family, 2 affecteds" "" "" "Turkey" "" "0" "" "" "" "" "00153069" "" "" "" "1" "" "00006" "{PMID:Shen 2008:18398509}" "similarly affected sibling died 11m" "F" "" "United States" ">20y" "0" "" "" "" "" "00153070" "" "" "" "1" "" "00006" "{PMID:Shen 2002:12499478}" "4-generation family, unaffected carrier parents/3 siblings" "M" "" "Saudi Arabia" "" "0" "" "" "" "" "00153071" "" "" "" "1" "" "00513" "{PMID:Chaouch 2011:21822932}" "" "" "" "Sweden" "" "0" "" "" "" "" "00153072" "" "" "" "3" "" "00513" "" "homozygous in 3 affected siblings" "" "" "Germany" "" "0" "" "" "" "" "00153073" "" "" "" "10" "" "00006" "{PMID:Engel 1996:8872460}" "" "" "" "United States" "" "0" "" "" "" "" "00153074" "" "" "" "1" "" "00006" "{PMID:Shen 2002:12499478}" "2 cousins 3-generation family, unaffected carrier parents/4 siblings" "M" "" "Saudi Arabia" "" "0" "" "" "" "" "00153075" "" "" "" "1" "" "00006" "{PMID:Shen 2002:12499478}" "2 cousins 3-generation family, unaffected carrier parents/4 siblings" "F" "" "Saudi Arabia" "" "0" "" "" "" "" "00153076" "" "" "" "2" "" "00006" "{PMID:Engel 1996:8872460}" "2-generation family, unaffected mother/sister of patient" "F" "" "United States" "" "0" "" "" "" "" "00153077" "" "" "" "30" "" "00006" "{PMID:Engel 1996:8872460}" "" "" "" "" "" "0" "" "" "" "" "00153078" "" "" "" "13" "" "00006" "{PMID:Shen 2002:12499478}, {OMIM100720:0002}" "3-families, 13 unaffected family members patients" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00153079" "" "" "" "54" "" "00006" "{PMID:Ohno 1997:9158150}, {PMID:Ohno 1999:10382905}" "" "" "" "Turkey" "" "0" "" "" "" "" "00153080" "" "" "" "2" "" "00006" "{PMID:Michalk 2008:18252226}" "5-generation family, unaffected carrier parents" "" "yes" "Turkey" "" "0" "" "" "" "" "00153081" "" "" "" "1" "" "00006" "{PMID:Michalk 2008:18252226}, {OMIM100720:0006}" "2-generation family, unaffected carrier parent" "" "" "Germany" "" "0" "" "" "" "" "00153082" "" "" "" "1" "" "00006" "{PMID:Michalk 2008:18252226}, {OMIM100720:0007}" "2-generation family, unaffected carrier parent" "" "" "Germany" "" "0" "" "" "" "" "00153083" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "white" "" "00153084" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "" "00174819" "" "" "" "1" "" "00006" "{PMID:Fichna 2018:29970176}" "" "F" "" "Poland" "" "0" "" "" "" "Pat205" "00248336" "" "" "" "1" "" "00006" "{PMID:Todd 2015:26578207}" "" "" "" "" "" "0" "" "" "" "Fam10" "00292636" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292637" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292638" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292639" "" "" "" "43" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304796" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00314139" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00399085" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "F" "" "Spain" "" "0" "" "" "" "P167" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 38 "{{individualid}}" "{{diseaseid}}" "00035222" "00198" "00035223" "01926" "00035224" "00198" "00035225" "00198" "00035227" "01926" "00152961" "04312" "00152962" "04312" "00152984" "04312" "00152986" "04312" "00152987" "04312" "00152988" "04312" "00152989" "04312" "00152994" "04312" "00153063" "04312" "00153064" "04312" "00153065" "04312" "00153066" "04312" "00153067" "01666" "00153068" "01666" "00153069" "04312" "00153070" "04312" "00153071" "04312" "00153072" "04312" "00153073" "04312" "00153074" "04312" "00153075" "04312" "00153078" "04312" "00153083" "04312" "00153084" "04312" "00174819" "05126" "00248336" "05618" "00292636" "00198" "00292637" "00198" "00292638" "00198" "00292639" "00198" "00304796" "00198" "00314139" "05126" "00399085" "05618" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00572, 01666, 01926, 04312, 04315, 04316, 04317, 05126, 05618 ## Count = 32 "{{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}}" "0000125696" "04312" "00152961" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" "" "0000125697" "04312" "00152962" "00006" "Unknown" "30y" "8y-limb muscle weakness; 10y-scoliosis, able to walk 100 yards, cannot climb stairs unassisted; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli; age onset early childhood" "" "" "ocular muscle weakness" "no AChR antibodies" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" "" "0000125719" "04312" "00152984" "00006" "Unknown" "16y" "7y-intermittent episodes respiratory insufficiency requiring ventilatory support; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli; age onset early infancy" "" "" "myasthenic symptoms" "no AChR antibodies" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" "" "0000125721" "04312" "00152986" "00006" "Familial, autosomal recessive" "" "" "1d" "" "weak cry" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel" "" "0000125722" "04312" "00152987" "00006" "Familial, autosomal recessive" "" "" "1d" "" "decreased movements in utero, weak cry and feeble suck" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel" "" "0000125723" "04312" "00152988" "00006" "Isolated (sporadic)" "12y" "developmental motor milestones normal; 12y-ptosis, limited eye movements, no limb weakness" "0d" "" "ptosis, limb muscle weakness" "no AChR antibodies" "" "" "" "" "" "syndrome, myasthenic, congenital" "" "0000125724" "04312" "00152989" "00006" "Isolated (sporadic)" "14y" "myasthenic symptoms; 14y normal" "0d" "" "ptosis, limb muscle weakness" "" "" "" "" "" "" "syndrome, myasthenic, congenital" "" "0000125728" "04312" "00152994" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" "" "0000125779" "04312" "00153063" "00006" "Unknown" "19y" "myasthenic symptoms involving ocular, other cranial and limb muscles; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli" "0d" "" "myasthenic symptoms" "no AChR antibodies" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" "" "0000125780" "04312" "00153064" "00006" "Isolated (sporadic)" "6y" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" "" "0000125781" "04312" "00153065" "00006" "Isolated (sporadic)" "15y" "9y-loss ambulation" "1m" "" "floppy, head control" "" "" "" "" "" "" "syndrome, myasthenic, congenital" "" "0000125782" "04312" "00153066" "00513" "Isolated (sporadic)" "7y" "post-partum difficulties feeding, sucking with frequent chokes; neonatal left-side eyelid ptosis, facial weakness, daytime-dependent abnormal fatigue, muscular hypotonia; motor development delayed" "0d" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" "" "0000125783" "01666" "00153067" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "fetal akinesia deformation sequence disorder (FADS)" "" "0000125784" "01666" "00153068" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "fetal akinesia deformation sequence disorder (FADS)" "" "0000125785" "04312" "00153069" "00006" "Unknown" "20y" "no anti-AChR antibodies" "0d" "" "myasthenic symptoms" "" "" "" "" "" "" "syndrome, myasthenic, congenital" "" "0000125786" "04312" "00153070" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" "" "0000125787" "04312" "00153071" "00513" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" "" "0000125788" "04312" "00153072" "00513" "Unknown" "" "early onset severe CMS with contractures" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" "" "0000125789" "04312" "00153073" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" "" "0000125790" "04312" "00153074" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" "" "0000125791" "04312" "00153075" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" "" "0000125792" "04312" "00153078" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" "" "0000125793" "04312" "00153083" "00464" "Familial, autosomal dominant" "" "bilateral ptosis, strabismus, hyperlordosis, foot drop." "" "" "" "type 1 fiber predominance seen in muscle biopsy." "" "" "" "" "" "syndrome, myasthenic, congenital" "" "0000125794" "04312" "00153084" "00464" "Isolated (sporadic)" "" "profound muscle weakness; ventilator-dependent since birth; improves with Mestinin" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" "" "0000139646" "05126" "00174819" "00006" "Isolated (sporadic)" "41y" "onset overt symptoms adulthood; CPK raised 4x; asymmetric limb-girdle weakness; transient respiratory failure after general anesthesia; generalized muscle atrophy, calf atrophy; no clear dystrophic features in biopsy; ambulation preserved" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000156062" "00198" "00035222" "01164" "Unknown" "" "status post adenovirus enzephalitis, relapsing apnoea, hypertelorism" "" "" "" "" "" "" "" "" "" "encephalitis" "" "0000156063" "01926" "00035223" "01164" "Unknown" "" "myasthenia" "" "" "" "" "" "" "" "" "" "myasthenia" "" "0000156064" "00198" "00035224" "01164" "Unknown" "" "Floppy infant, relapsing apnoea neonatal; family history: consanguine of the parents (Arab Emirates): pre-result normal" "" "" "" "" "" "" "" "" "" "floppy infant" "" "0000156065" "00198" "00035225" "01164" "Unknown" "" "targeted analysis myasthenic syndrome?" "" "" "" "" "" "" "" "" "" "myasthenic syndrome?" "" "0000156066" "01926" "00035227" "01164" "Unknown" "" "muscular hypotonia, developmental delay" "" "" "" "" "" "" "" "" "" "muscular hypotonia" "" "0000187333" "05618" "00248336" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000292173" "05618" "00399085" "00006" "Unknown" "" "muscle biopsy myopathic changes" "3y" "" "" "" "" "" "" "" "" "limb-girdle muscular dytrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 47 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000035291" "00035221" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035292" "00035222" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035293" "00035223" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035294" "00035224" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035295" "00035225" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035296" "00035226" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035297" "00035227" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000153824" "00152961" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:19:10" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000153825" "00152962" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:19:39" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000153847" "00152984" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2013-01-27 10:20:15" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000153849" "00152986" "1" "00006" "00006" "2011-02-13 11:28:19" "00008" "2012-12-21 10:33:49" "SEQ" "DNA" "" "" "0000153850" "00152987" "1" "00006" "00006" "2011-02-13 11:28:19" "00008" "2012-12-21 10:13:06" "SEQ" "DNA" "" "" "0000153851" "00152988" "1" "00006" "00006" "2011-02-13 11:28:19" "00006" "2012-03-09 19:02:28" "SEQ" "DNA" "" "" "0000153852" "00152989" "1" "00006" "00006" "2011-02-13 11:28:19" "00006" "2012-03-09 19:02:28" "SEQ" "DNA" "" "" "0000153853" "00152990" "1" "00006" "00006" "2011-02-13 11:28:19" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" "" "0000153857" "00152994" "1" "00006" "00006" "2011-12-28 11:54:56" "00006" "2013-01-27 10:22:45" "SEQ;SSCA" "DNA" "" "" "0000153925" "00153063" "1" "00006" "00006" "2011-02-13 11:25:00" "00006" "2013-01-27 10:21:20" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000153926" "00153064" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2017-03-31 14:13:45" "SEQ;SSCA" "DNA" "" "" "0000153927" "00153065" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2012-03-09 19:17:22" "SEQ;SSCA" "DNA" "" "" "0000153928" "00153066" "1" "00513" "00513" "2011-02-13 11:26:43" "00006" "2012-03-09 18:26:59" "SEQ" "DNA" "" "" "0000153929" "00153067" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2012-03-09 18:26:59" "SEQ" "DNA" "" "" "0000153930" "00153068" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2012-03-09 19:02:28" "SEQ" "DNA" "" "" "0000153931" "00153069" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" "" "0000153932" "00153070" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2012-03-09 19:02:28" "SEQ" "DNA" "" "" "0000153933" "00153071" "1" "00513" "00513" "2011-12-27 11:49:22" "00006" "2012-03-04 15:56:04" "SEQ" "DNA" "" "" "0000153934" "00153072" "1" "00513" "00513" "2011-12-27 11:49:22" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" "" "0000153935" "00153073" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2013-01-27 10:22:45" "SEQ;SSCA" "DNA" "" "" "0000153936" "00153074" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2012-03-09 19:02:28" "SEQ" "DNA" "" "" "0000153937" "00153075" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2012-03-09 19:02:28" "SEQ" "DNA" "" "" "0000153938" "00153076" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2013-01-27 10:22:45" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000153939" "00153077" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" "" "0000153940" "00153078" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" "" "0000153941" "00153079" "1" "00006" "00006" "2011-02-13 11:28:19" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" "" "0000153942" "00153080" "1" "00006" "00006" "2012-01-02 15:04:08" "00006" "2012-03-04 16:08:34" "SEQ" "DNA" "" "" "0000153943" "00153081" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000153944" "00153082" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000153945" "00153083" "1" "00464" "00464" "2012-10-19 17:20:02" "" "" "PCR;SEQ" "DNA" "" "" "0000153946" "00153084" "1" "00464" "00464" "2014-06-18 16:59:15" "00006" "2014-06-28 22:06:00" "SEQ-NG" "DNA" "" "" "0000175710" "00174819" "1" "00006" "00006" "2018-08-10 19:10:48" "" "" "SEQ-NG" "DNA" "" "WES" "0000249440" "00248336" "1" "00006" "00006" "2019-07-21 23:12:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000293804" "00292636" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293805" "00292637" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293806" "00292638" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293807" "00292639" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305925" "00304796" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000315312" "00314139" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400330" "00399085" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{geneid}}" "0000035291" "CHRND" "0000035292" "CHRND" "0000035293" "CHRND" "0000035294" "CHRND" "0000035295" "CHRND" "0000035296" "CHRND" "0000035297" "CHRND" "0000153824" "CHRNA1" "0000153825" "CHRNA1" "0000153847" "CHRNA1" "0000153849" "CHRNA1" "0000153850" "CHRNA1" "0000153851" "CHRNA1" "0000153852" "CHRNA1" "0000153853" "CHRNA1" "0000153857" "CHRNA1" "0000153925" "CHRND" "0000153926" "CHRND" "0000153927" "CHRND" "0000153928" "CHRND" "0000153929" "CHRND" "0000153930" "CHRND" "0000153931" "CHRND" "0000153932" "CHRND" "0000153933" "CHRND" "0000153934" "CHRND" "0000153935" "CHRND" "0000153936" "CHRND" "0000153937" "CHRND" "0000153938" "CHRND" "0000153939" "CHRND" "0000153940" "CHRND" "0000153941" "CHRND" "0000153942" "CHRND" "0000153943" "CHRND" "0000153944" "CHRND" "0000153945" "CHRND" "0000153946" "CHRND" "0000249440" "CHRND" "0000315312" "CHRND" ## 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 = 166 "{{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}}" "0000062410" "1" "10" "2" "233392155" "233392155" "subst" "0.00199253" "01164" "CHRND_000022" "g.233392155C>T" "" "" "" "" "" "Germline" "" "rs115841867" "0" "" "" "g.232527445C>T" "" "benign" "" "0000062411" "1" "10" "2" "233391303" "233391303" "subst" "0.00582695" "01164" "CHRND_000027" "g.233391303C>G" "" "" "" "" "Polyphen-2: benign" "Germline" "" "rs77084550" "0" "" "" "g.232526593C>G" "" "benign" "" "0000062412" "1" "10" "2" "233396375" "233396375" "subst" "0.0690288" "01164" "CHRND_000025" "g.233396375T>C" "" "" "" "" "" "Germline" "" "rs3762528" "0" "" "" "g.232531665T>C" "" "benign" "" "0000062413" "1" "50" "2" "233392043" "233392044" "del" "0" "01164" "CHRND_000021" "g.233392043_233392044del" "" "" "" "" "polymorphic region" "Germline" "" "" "0" "" "" "g.232527333_232527334del" "" "VUS" "" "0000062414" "1" "90" "2" "233396161" "233396161" "subst" "4.87322E-5" "01164" "CHRND_000024" "g.233396161C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.232531451C>T" "" "pathogenic" "" "0000062415" "1" "50" "2" "233400171" "233400171" "subst" "0.012261" "01164" "CHRND_000026" "g.233400171A>G" "" "" "" "" "" "Germline" "" "rs114315112" "0" "" "" "g.232535461A>G" "" "VUS" "" "0000062416" "1" "50" "2" "233393299" "233393299" "subst" "7.71592E-5" "01164" "CHRND_000023" "g.233393299C>T" "" "" "" "" "PolyPhen-2: benign (PSIC 0,019); splice: loss of SF2/ASF-site-->new SRp40-site; MutTaster: disease causing" "Germline" "" "" "0" "" "" "g.232528589C>T" "" "VUS" "" "0000249000" "0" "10" "2" "233389918" "233389918" "subst" "0.736946" "02325" "PRSS56_000008" "g.233389918A>G" "" "" "" "PRSS56(NM_001195129.2):c.1522-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232525208A>G" "" "benign" "" "0000270234" "0" "30" "2" "233396103" "233396103" "subst" "0.00273511" "02326" "CHRND_000001" "g.233396103C>G" "" "" "" "CHRND(NM_000751.2):c.862C>G (p.Q288E), CHRND(NM_000751.3):c.862C>G (p.(Gln288Glu), p.Q288E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232531393C>G" "" "likely benign" "" "0000270236" "0" "30" "2" "233404771" "233404771" "subst" "0.00233556" "02326" "CHRNG_000058" "g.233404771G>A" "" "" "" "CHRNG(NM_005199.4):c.125G>A (p.(Arg42Gln)), CHRNG(NM_005199.5):c.125G>A (p.R42Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232540061G>A" "" "likely benign" "" "0000270237" "0" "30" "2" "233406178" "233406178" "subst" "0.0332797" "02326" "CHRNG_000060" "g.233406178G>A" "" "" "" "CHRNG(NM_005199.5):c.445G>A (p.A149T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232541468G>A" "" "likely benign" "" "0000273553" "0" "50" "2" "233399910" "233399910" "subst" "4.06088E-5" "01943" "CHRND_000031" "g.233399910T>C" "" "" "" "CHRND(NM_000751.2):c.1442T>C (p.M481T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232535200T>C" "" "VUS" "" "0000297404" "0" "10" "2" "233386583" "233386583" "subst" "0.401722" "02325" "PRSS56_000002" "g.233386583T>C" "" "" "" "PRSS56(NM_001195129.2):c.256+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232521873T>C" "" "benign" "" "0000306517" "0" "30" "2" "233388560" "233388560" "subst" "0.000397895" "01943" "PRSS56_000004" "g.233388560G>A" "" "" "" "PRSS56(NM_001195129.1):c.1091G>A (p.R364Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232523850G>A" "" "likely benign" "" "0000306518" "0" "50" "2" "233388824" "233388824" "subst" "0.00104842" "01943" "PRSS56_000005" "g.233388824T>G" "" "" "" "PRSS56(NM_001195129.1):c.1262T>G (p.L421R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232524114T>G" "" "VUS" "" "0000306519" "0" "50" "2" "233389065" "233389065" "subst" "0.00038397" "01943" "PRSS56_000006" "g.233389065G>T" "" "" "" "PRSS56(NM_001195129.1):c.1400G>T (p.R467L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232524355G>T" "" "VUS" "" "0000328169" "0" "30" "2" "233387823" "233387823" "subst" "0.000420233" "01804" "PRSS56_000003" "g.233387823G>A" "" "" "" "PRSS56(NM_001195129.1):c.760G>A (p.D254N, p.(Asp254Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232523113G>A" "" "likely benign" "" "0000328173" "0" "30" "2" "233404771" "233404771" "subst" "0.00233556" "01804" "CHRNG_000058" "g.233404771G>A" "" "" "" "CHRNG(NM_005199.4):c.125G>A (p.(Arg42Gln)), CHRNG(NM_005199.5):c.125G>A (p.R42Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232540061G>A" "" "likely benign" "" "0000337561" "0" "10" "2" "233404855" "233404855" "subst" "0.00361598" "02327" "CHRNG_000066" "g.233404855C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232540145C>T" "" "benign" "" "0000347036" "0" "50" "2" "233394790" "233394790" "subst" "0" "02327" "CHRND_000032" "g.233394790T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232530080T>A" "" "VUS" "" "0000347086" "0" "50" "2" "233404732" "233404732" "subst" "0" "02327" "CHRNG_000065" "g.233404732T>A" "" "" "" "CHRNG(NM_005199.5):c.86T>A (p.L29Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232540022T>A" "" "VUS" "" "0000352738" "0" "70" "2" "0" "0" "" "0" "00513" "CHRND_000000" "g.?" "" "{PMID:Muller 2006:16916845}" "" "E376K" "expression cloning in mouse cDNA HEK293 cells, co-transfected RPASN slightly reduced cluster formation" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000352739" "0" "70" "2" "0" "0" "" "0" "00513" "CHRND_000000" "g.?" "" "{PMID:Muller 2006:16916845}" "" "N436del" "expression cloning in mouse cDNA HEK293 cells, co-transfected RPASN slightly reduced cluster formation" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000352740" "0" "70" "2" "0" "0" "" "0" "00513" "CHRND_000000" "g.?" "" "{PMID:Muller 2006:16916845}" "" "E385K" "expression cloning in mouse cDNA HEK293 cells, co-transfected RPASN slightly reduced cluster formation" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000352741" "0" "70" "2" "0" "0" "" "0" "00513" "CHRND_000000" "g.?" "" "{PMID:Muller 2006:16916845}" "" "K382E" "expression cloning in mouse cDNA HEK293 cells, co-transfected RPASN slightly reduced cluster formation" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000352742" "0" "90" "2" "0" "0" "" "0" "00513" "CHRND_000000" "g.?" "" "{PMID:Muller 2006:16916845}" "" "E381L" "expression cloning in mouse cDNA HEK293 cells, co-transfected RPASN severely reduced cluster formation" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000352743" "0" "90" "2" "0" "0" "" "0" "00513" "CHRND_000000" "g.?" "" "{PMID:Muller 2006:16916845}" "" "F380A" "expression cloning in mouse cDNA HEK293 cells, co-transfected RPASN severely reduced cluster formation" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000352744" "0" "90" "2" "0" "0" "" "0" "00513" "CHRND_000000" "g.?" "" "{PMID:Muller 2006:16916845}" "" "M379A" "expression cloning in mouse cDNA HEK293 cells, co-transfected RPASN severely reduced cluster formation" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000352745" "0" "90" "2" "0" "0" "" "0" "00513" "CHRND_000000" "g.?" "" "{PMID:Muller 2006:16916845}" "" "D377K" "expression cloning in mouse cDNA HEK293 cells, co-transfected RPASN severely reduced cluster formation" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000352746" "0" "10" "2" "233396103" "233396103" "subst" "0.00273511" "00006" "CHRND_000001" "g.233396103C>G" "" "{PMID:Engel 1996:08872460}" "" "" "expression cloning HEK cells no change channel closure in presence Ach, no increase Ach affinity, no channel leakiness" "In vitro (cloned)" "" "rs41265127" "0" "" "" "g.232531393C>G" "" "NA" "" "0000352747" "0" "90" "2" "233392150" "233392150" "subst" "0" "00006" "CHRND_000002" "g.233392150G>A" "" "{PMID:Brownlow 2001:11435464}" "" "E59K" "expression cloning in HEK293 cells shorter than normal channel activations" "In vitro (cloned)" "" "" "0" "" "" "g.232527440G>A" "" "NA" "" "0000352748" "0" "90" "2" "233396107" "233396107" "subst" "0" "00006" "CHRND_000004" "g.233396107C>T" "" "" "" "S268F" "expression cloning in mouse cDNA Xenopus oocytes delayed closure AChR ion channels" "In vitro (cloned)" "" "" "0" "" "" "g.232531397C>T" "" "NA" "" "0000352749" "0" "70" "2" "233398797" "233398797" "subst" "3.24973E-5" "00513" "CHRND_000005" "g.233398797G>A" "" "{PMID:Muller 2006:16916845}" "" "E381K" "expression cloning in mouse cDNA HEK293 cells CHRND reduced to 0.70" "In vitro (cloned)" "" "" "0" "" "" "g.232534087G>A" "" "NA" "" "0000352750" "0" "90" "2" "233398797" "233398797" "subst" "3.24973E-5" "00513" "CHRND_000005" "g.233398797G>A" "" "{PMID:Muller 2006:16916845}" "" "E381K" "expression cloning in mouse cDNA HEK293 cells, co-transfected RPASN severely reduced cluster formation" "In vitro (cloned)" "" "" "0" "" "" "g.232534087G>A" "" "NA" "" "0000352751" "0" "90" "2" "233391374" "233391374" "subst" "0" "00006" "CHRND_000009" "g.233391374T>C" "" "{PMID:Shen 2008:18398509}, {OMIM100720:0008}" "" "L42P" "expression cloning human cDNA in HEK293; expression reduced to 0.37" "In vitro (cloned)" "" "" "0" "" "" "g.232526664T>C" "" "NA" "" "0000352752" "0" "90" "2" "233392148" "233392148" "subst" "4.06405E-6" "00006" "CHRND_000010" "g.233392148T>A" "" "{PMID:Shen 2008:18398509}, {OMIM100720:0009}" "" "I58K" "expression cloning human cDNA in HEK293; expression reduced to 0.05, complex formation reduced to 0.15" "In vitro (cloned)" "" "" "0" "" "" "g.232527438T>A" "" "NA" "" "0000352753" "0" "90" "2" "233394841" "233394841" "subst" "0" "00006" "CHRND_000011" "g.233394841C>A" "" "{PMID:Shen 2002:12499478}, {OMIM100720:0002}" "" "P250Q" "expression cloning human CHRND cDNA in HEK293 cells shows reduced AChR assembly, hinders opening doubly occupied closed receptor, speeded dissociation acetylcholine from A2R (fast channel effects)" "In vitro (cloned)" "" "" "0" "" "" "g.232530131C>A" "" "NA" "" "0000352754" "0" "90" "2" "233393068" "233393068" "subst" "4.06068E-6" "00006" "CHRND_000012" "g.233393068G>C" "" "" "" "V93L" "expression cloning human cDNA in HEK293; expression slightly enhanced" "In vitro (cloned)" "" "" "0" "" "" "g.232528358G>C" "" "NA" "" "0000353192" "0" "10" "2" "233390937" "233390937" "subst" "0.503382" "00006" "CHRND_000017" "g.233390937A>G" "" "{PMID:Sine 1995:07619526}" "" "A-52G (P-18P)" "" "Germline" "" "" "0" "" "" "g.232526227A>G" "" "benign" "" "0000353193" "0" "10" "2" "233390937" "233390937" "subst" "0.503382" "00006" "CHRND_000017" "g.233390937A>G" "" "{PMID:Engel 1996:08872460}" "" "A-52G" "" "Germline" "" "" "0" "" "" "g.232526227A>G" "" "benign" "" "0000353194" "21" "30" "2" "233396103" "233396103" "subst" "0.00273511" "00006" "CHRND_000001" "g.233396103C>G" "" "{PMID:Engel 1996:08872460}" "HinfI+" "C799G (Q267E)" "not in 102 CMS/200 control chromosomes" "Germline" "" "rs41265127" "0" "" "" "g.232531393C>G" "" "likely benign" "" "0000353195" "0" "10" "2" "233400074" "233400074" "subst" "0.41555" "00006" "CHRND_000003" "g.233400074A>G" "" "{PMID:Engel 1996:08872460}" "" "A1543G" "" "Germline" "" "" "0" "" "" "g.232535364A>G" "" "benign" "" "0000353196" "10" "10" "2" "233390937" "233390937" "subst" "0.503382" "00006" "CHRND_000017" "g.233390937A>G" "" "{PMID:Engel 1996:08872460}" "" "A-52G" "" "Germline" "" "" "0" "" "" "g.232526227A>G" "" "benign" "" "0000353197" "20" "10" "2" "233390937" "233390937" "subst" "0.503382" "00006" "CHRND_000017" "g.233390937A>G" "" "{PMID:Engel 1996:08872460}" "" "A-52G" "" "Germline" "" "" "0" "" "" "g.232526227A>G" "" "benign" "" "0000353198" "10" "10" "2" "233391306" "233391306" "subst" "0.0315801" "00006" "CHRND_000019" "g.233391306G>A" "" "{PMID:Ohno 1997:09158150}" "" "G57A" "" "Germline" "" "" "0" "" "" "g.232526596G>A" "" "benign" "" "0000353199" "20" "10" "2" "233391306" "233391306" "subst" "0.0315801" "00006" "CHRND_000019" "g.233391306G>A" "" "{PMID:Ohno 1997:09158150}" "" "G57A" "" "Germline" "" "" "0" "" "" "g.232526596G>A" "" "benign" "" "0000353200" "0" "10" "2" "233390937" "233390937" "subst" "0.503382" "00006" "CHRND_000017" "g.233390937A>G" "" "{PMID:Engel 1996:08872460}" "" "A-52G" "" "Germline" "" "" "0" "" "" "g.232526227A>G" "" "benign" "" "0000353201" "11" "10" "2" "233390937" "233390937" "subst" "0.503382" "00006" "CHRND_000017" "g.233390937A>G" "" "{PMID:Ohno 1999:10382905}" "MspI-" "-52A/G" "" "Germline" "" "" "0" "" "" "g.232526227A>G" "" "benign" "" "0000353202" "21" "10" "2" "233390937" "233390937" "subst" "0.503382" "00006" "CHRND_000017" "g.233390937A>G" "" "{PMID:Ohno 1999:10382905}" "MspI-" "-52A/G" "" "Germline" "" "" "0" "" "" "g.232526227A>G" "" "benign" "" "0000353203" "11" "10" "2" "233390937" "233390937" "subst" "0.503382" "00006" "CHRND_000017" "g.233390937A>G" "" "{PMID:Ohno 1999:10382905}" "MspI-" "-52A/G" "" "Germline" "" "" "0" "" "" "g.232526227A>G" "" "benign" "" "0000353204" "21" "10" "2" "233390937" "233390937" "subst" "0.503382" "00006" "CHRND_000017" "g.233390937A>G" "" "{PMID:Ohno 1999:10382905}" "MspI-" "-52A/G" "" "Germline" "" "" "0" "" "" "g.232526227A>G" "" "benign" "" "0000353205" "21" "10" "2" "233390937" "233390937" "subst" "0.503382" "00006" "CHRND_000017" "g.233390937A>G" "" "{PMID:Ohno 1999:10382905}" "MspI-" "-52A/G" "" "Germline" "" "" "0" "" "" "g.232526227A>G" "" "benign" "" "0000353206" "0" "10" "2" "233390937" "233390937" "subst" "0.503382" "00006" "CHRND_000017" "g.233390937A>G" "" "{PMID:Sine 1995:07619526}" "" "A-52G (P-18P)" "" "Germline" "" "" "0" "" "" "g.232526227A>G" "" "benign" "" "0000353208" "0" "10" "2" "233400074" "233400074" "subst" "0.41555" "00006" "CHRND_000003" "g.233400074A>G" "" "{PMID:Engel 1996:08872460}" "" "A1543G" "" "Germline" "" "" "0" "" "" "g.232535364A>G" "" "benign" "" "0000353209" "10" "10" "2" "233390937" "233390937" "subst" "0.503382" "00006" "CHRND_000017" "g.233390937A>G" "" "{PMID:Engel 1996:08872460}" "" "A-52G" "" "Germline" "" "" "0" "" "" "g.232526227A>G" "" "benign" "" "0000353210" "20" "10" "2" "233390937" "233390937" "subst" "0.503382" "00006" "CHRND_000017" "g.233390937A>G" "" "{PMID:Engel 1996:08872460}" "" "A-52G" "" "Germline" "" "" "0" "" "" "g.232526227A>G" "" "benign" "" "0000353211" "21" "90" "2" "233392150" "233392150" "subst" "0" "00006" "CHRND_000002" "g.233392150G>A" "" "{PMID:Brownlow 2001:11435464}, {OMIM100720:0003}" "BsiHKAI+" "175G>A (E59K)" "" "Germline" "" "" "0" "" "" "g.232527440G>A" "" "pathogenic" "" "0000353212" "11" "90" "2" "233394849" "233406670" "del" "0" "00006" "CHRND_000013" "g.233394849_233406670del" "" "{PMID:Brownlow 2001:11435464}, {OMIM100720:0004}" "DdeI+" "756delAG/756insAG" "" "Germline" "" "" "0" "" "" "g.232530139_232541960del" "" "pathogenic" "" "0000353213" "1" "90" "2" "233396107" "233396107" "subst" "0" "00006" "CHRND_000004" "g.233396107C>T" "" "{PMID:Gomez 2002:11782989}, {OMIM100720:0001}" "" "C>T (S268F)" "not in 200 control chromosomes; de novo, in patient" "De novo" "" "" "0" "" "" "g.232531397C>T" "" "pathogenic" "" "0000353214" "21" "90" "2" "233398797" "233398797" "subst" "3.24973E-5" "00513" "CHRND_000005" "g.233398797G>A" "" "{PMID:Muller 2006:16916845}" "TaqI-" "1141G>A (E381K)" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.232534087G>A" "" "pathogenic" "" "0000353215" "11" "90" "2" "233396141" "233398358" "delins" "0" "00513" "CHRND_000014" "g.233396141_233398358delinsA" "" "{PMID:Muller 2006:16916845}" "TaqI-" "" "2.2 Kb deletion" "Germline" "" "" "0" "" "" "g.232531431_232533648delinsA" "" "pathogenic" "" "0000353216" "1" "90" "2" "233399858" "233399858" "subst" "0" "00006" "CHRND_000006" "g.233399858C>T" "" "{PMID:Michalk 2008:18252226}, {OMIM100720:0007}" "" "R443*" "not in control 300 chromosomes" "Germline" "" "" "0" "" "" "g.232535148C>T" "" "pathogenic" "" "0000353217" "2" "90" "2" "233393011" "233393011" "subst" "4.06055E-6" "00006" "CHRND_000008" "g.233393011T>C" "" "{PMID:Michalk 2008:18252226}, {OMIM100720:0006}" "" "F74L" "not in control 300 chromosomes" "Germline" "" "" "0" "" "" "g.232528301T>C" "" "pathogenic" "" "0000353218" "10" "90" "2" "233392146" "233392146" "subst" "1.62554E-5" "00006" "CHRND_000007" "g.233392146G>A" "" "{PMID:Michalk 2008:18252226}, {OMIM100720:0005}" "" "W57*" "not in control 300 chromosomes" "Germline" "" "" "0" "" "" "g.232527436G>A" "" "pathogenic" "" "0000353219" "20" "90" "2" "233392146" "233392146" "subst" "1.62554E-5" "00006" "CHRND_000007" "g.233392146G>A" "" "{PMID:Michalk 2008:18252226}, {OMIM100720:0005}" "" "W57*" "not in control 300 chromosomes" "Germline" "" "" "0" "" "" "g.232527436G>A" "" "pathogenic" "" "0000353220" "21" "90" "2" "233391374" "233391374" "subst" "0" "00006" "CHRND_000009" "g.233391374T>C" "" "{PMID:Shen 2008:18398509}, {OMIM100720:0008}" "" "125T>C (L42P)" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.232526664T>C" "" "pathogenic" "" "0000353221" "11" "90" "2" "233392148" "233392148" "subst" "4.06405E-6" "00006" "CHRND_000010" "g.233392148T>A" "" "{PMID:Shen 2008:18398509}, {OMIM100720:0009}" "" "173T>A (I58K)" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.232527438T>A" "" "pathogenic" "" "0000353222" "11" "90" "2" "233393068" "233393068" "subst" "4.06068E-6" "00006" "CHRND_000012" "g.233393068G>C" "" "" "" "277G>C (V93L)" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.232528358G>C" "" "pathogenic" "" "0000353223" "1" "90" "2" "233394841" "233394841" "subst" "0" "00006" "CHRND_000011" "g.233394841C>A" "" "{PMID:Shen 2002:12499478}, {OMIM100720:0002}" "" "749C>A (P250Q)" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.232530131C>A" "" "pathogenic" "" "0000353224" "2" "90" "2" "233394841" "233394841" "subst" "0" "00006" "CHRND_000011" "g.233394841C>A" "" "{PMID:Shen 2002:12499478}, {OMIM100720:0002}" "" "749C>A (P250Q)" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.232530131C>A" "" "pathogenic" "" "0000353225" "1" "90" "2" "233396107" "233396107" "subst" "0" "00513" "CHRND_000015" "g.233396107C>A" "" "{PMID:Chaouch 2011:21822932}" "" "S268Y" "slow channel mutation" "Germline" "" "" "0" "" "" "g.232531397C>A" "" "pathogenic" "" "0000353226" "1" "90" "2" "233396161" "233396161" "subst" "0" "00513" "CHRND_000016" "g.233396161T>C" "" "" "" "857C>T (P307L)" "functional consequence not determined\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000353227" "2" "90" "2" "233396161" "233396161" "subst" "0" "00513" "CHRND_000016" "g.233396161T>C" "" "" "" "857C>T (P307L)" "functional consequence not determined\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000353228" "0" "10" "2" "233400074" "233400074" "subst" "0.41555" "00006" "CHRND_000003" "g.233400074A>G" "10/34" "{PMID:Engel 1996:08872460}" "" "A1543G" "control chromosomes" "Germline" "" "" "0" "" "" "g.232535364A>G" "" "benign" "" "0000353229" "1" "90" "2" "233394841" "233394841" "subst" "0" "00006" "CHRND_000011" "g.233394841C>A" "" "{PMID:Shen 2002:12499478}, {OMIM100720:0002}" "" "749C>A (P250Q)" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.232530131C>A" "" "pathogenic" "" "0000353230" "2" "90" "2" "233394841" "233394841" "subst" "0" "00006" "CHRND_000011" "g.233394841C>A" "" "{PMID:Shen 2002:12499478}, {OMIM100720:0002}" "" "749C>A (P250Q)" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.232530131C>A" "" "pathogenic" "" "0000353231" "1" "90" "2" "233394841" "233394841" "subst" "0" "00006" "CHRND_000011" "g.233394841C>A" "" "{PMID:Shen 2002:12499478}, {OMIM100720:0002}" "" "749C>A (P250Q)" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.232530131C>A" "" "pathogenic" "" "0000353232" "2" "90" "2" "233394841" "233394841" "subst" "0" "00006" "CHRND_000011" "g.233394841C>A" "" "{PMID:Shen 2002:12499478}, {OMIM100720:0002}" "" "749C>A (P250Q)" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.232530131C>A" "" "pathogenic" "" "0000353233" "1" "30" "2" "233396103" "233396103" "subst" "0.00273511" "00006" "CHRND_000001" "g.233396103C>G" "" "{PMID:Engel 1996:08872460}" "HinfI+" "C799G (Q267E)" "not in 102 CMS/200 control chromosomes" "Germline" "" "rs41265127" "0" "" "" "g.232531393C>G" "" "likely benign" "" "0000353234" "0" "10" "2" "233390937" "233390937" "subst" "0.503382" "00006" "CHRND_000017" "g.233390937A>G" "30/60" "{PMID:Engel 1996:08872460}" "" "A-52G" "control chromosomes" "Germline" "" "" "0" "" "" "g.232526227A>G" "" "benign" "" "0000353235" "1" "90" "2" "233394841" "233394841" "subst" "0" "00006" "CHRND_000011" "g.233394841C>A" "" "{PMID:Shen 2002:12499478}, {OMIM100720:0002}" "" "749C>A (P250Q)" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.232530131C>A" "" "pathogenic" "" "0000353236" "0" "10" "2" "233390937" "233390937" "subst" "0.503382" "00006" "CHRND_000017" "g.233390937A>G" "54/112" "{PMID:Ohno 1997:09158150}, {PMID:Ohno 1999:10382905}" "MspI-" "-52A/G" "control chromosomes, reported 32/64 in 1997" "Germline" "" "" "0" "" "" "g.232526227A>G" "" "benign" "" "0000353237" "1" "90" "2" "233392146" "233392146" "subst" "1.62554E-5" "00006" "CHRND_000007" "g.233392146G>A" "" "{PMID:Michalk 2008:18252226}" "" "" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.232527436G>A" "" "pathogenic" "" "0000353238" "1" "90" "2" "233393011" "233393011" "subst" "4.06055E-6" "00006" "CHRND_000008" "g.233393011T>C" "" "{PMID:Michalk 2008:18252226}, {OMIM100720:0006}" "" "F74L" "not in control 300 chromosomes" "Germline" "" "" "0" "" "" "g.232528301T>C" "" "pathogenic" "" "0000353239" "1" "90" "2" "233399858" "233399858" "subst" "0" "00006" "CHRND_000006" "g.233399858C>T" "" "{PMID:Michalk 2008:18252226}, {OMIM100720:0007}" "" "R443*" "not in control 300 chromosomes" "Germline" "" "" "0" "" "" "g.232535148C>T" "" "pathogenic" "" "0000353240" "11" "70" "2" "233396128" "233396128" "subst" "0" "00464" "CHRND_000018" "g.233396128C>T" "" "" "" "" "segregates with phenotype" "Germline" "" "" "0" "" "" "g.232531418C>T" "" "likely pathogenic" "" "0000353241" "0" "70" "2" "233396110" "233396110" "subst" "0" "00464" "CHRND_000020" "g.233396110T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.232531400T>C" "" "likely pathogenic" "" "0000398478" "1" "50" "2" "233391256" "233391256" "subst" "8.13339E-5" "00006" "CHRND_000029" "g.233391256G>A" "" "{PMID:Fichna 2018:29970176}" "" "" "ACMG grading: PM2" "Germline" "" "" "0" "" "" "g.232526546G>A" "" "VUS" "ACMG" "0000515075" "0" "10" "2" "233386531" "233386531" "subst" "0.00103325" "01943" "CHRND_000035" "g.233386531G>C" "" "" "" "PRSS56(NM_001195129.1):c.211G>C (p.G71R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232521821G>C" "" "benign" "" "0000515076" "0" "30" "2" "233387807" "233387807" "subst" "0" "01943" "CHRND_000036" "g.233387807T>C" "" "" "" "PRSS56(NM_001195129.1):c.744T>C (p.V248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232523097T>C" "" "likely benign" "" "0000515077" "0" "50" "2" "233388180" "233388180" "subst" "0.00106041" "01943" "CHRND_000037" "g.233388180G>T" "" "" "" "PRSS56(NM_001195129.1):c.904G>T (p.V302F), PRSS56(NM_001195129.2):c.904G>T (p.(Val302Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232523470G>T" "" "VUS" "" "0000515079" "0" "30" "2" "233388533" "233388533" "subst" "0.000468203" "01804" "CHRND_000039" "g.233388533C>T" "" "" "" "PRSS56(NM_001195129.1):c.1064C>T (p.(Pro355Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232523823C>T" "" "likely benign" "" "0000515080" "0" "30" "2" "233388540" "233388540" "subst" "0.000655032" "01804" "CHRND_000040" "g.233388540G>T" "" "" "" "PRSS56(NM_001195129.1):c.1071G>T (p.(Glu357Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232523830G>T" "" "likely benign" "" "0000515081" "0" "30" "2" "233388557" "233388557" "subst" "0" "01943" "CHRND_000041" "g.233388557C>T" "" "" "" "PRSS56(NM_001195129.1):c.1088C>T (p.A363V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232523847C>T" "" "likely benign" "" "0000515083" "0" "10" "2" "233388813" "233388813" "subst" "0.851807" "02325" "CHRND_000042" "g.233388813T>G" "" "" "" "PRSS56(NM_001195129.2):c.1251T>G (p.P417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232524103T>G" "" "benign" "" "0000515085" "0" "10" "2" "233389452" "233389452" "subst" "0.0018633" "01943" "CHRND_000043" "g.233389452C>T" "" "" "" "PRSS56(NM_001195129.1):c.1419C>T (p.C473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232524742C>T" "" "benign" "" "0000515086" "0" "50" "2" "233390097" "233390097" "subst" "0.000455744" "01943" "CHRND_000044" "g.233390097G>T" "" "" "" "PRSS56(NM_001195129.1):c.1693G>T (p.A565S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232525387G>T" "" "VUS" "" "0000515087" "0" "30" "2" "233390199" "233390199" "subst" "0.049797" "01804" "CHRND_000045" "g.233390199C>G" "" "" "" "PRSS56(NM_001195129.1):c.1795C>G (p.(Pro599Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232525489C>G" "" "likely benign" "" "0000515089" "0" "10" "2" "233391303" "233391303" "subst" "0.00582695" "01943" "CHRND_000027" "g.233391303C>G" "" "" "" "CHRND(NM_000751.2):c.117C>G (p.N39K, p.(Asn39Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232526593C>G" "" "benign" "" "0000515092" "0" "30" "2" "233398698" "233398698" "subst" "0.00341903" "01943" "CHRND_000048" "g.233398698C>T" "" "" "" "CHRND(NM_000751.2):c.1105C>T (p.P369S), CHRND(NM_000751.3):c.1105C>T (p.P369S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232533988C>T" "" "likely benign" "" "0000515093" "0" "10" "2" "233399059" "233399059" "subst" "0.00088942" "01943" "CHRND_000049" "g.233399059G>T" "" "" "" "CHRND(NM_000751.2):c.1371+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232534349G>T" "" "benign" "" "0000515094" "0" "30" "2" "233399868" "233399868" "subst" "0.0011215" "01804" "CHRND_000050" "g.233399868G>A" "" "" "" "CHRND(NM_000751.2):c.1400G>A (p.(Arg467His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232535158G>A" "" "likely benign" "" "0000578222" "1" "90" "2" "233394798" "233394798" "subst" "2.03082E-5" "00006" "CHRND_000033" "g.233394798T>C" "" "{PMID:Todd 2015:26578207}" "" "" "" "Germline" "" "" "0" "" "" "g.232530088T>C" "" "pathogenic (recessive)" "" "0000578223" "2" "90" "2" "233398996" "233398996" "del" "0" "00006" "CHRND_000034" "g.233398996del" "" "{PMID:Todd 2015:26578207}" "" "1315delG" "" "Germline" "" "" "0" "" "" "g.232534286del" "" "pathogenic (recessive)" "" "0000607818" "0" "90" "2" "233406192" "233406192" "dup" "0" "02327" "CHRNG_000033" "g.233406192dup" "" "" "" "CHRNG(NM_005199.5):c.459dup (p.(Val154Serfs*24)), CHRNG(NM_005199.5):c.459dupA (p.V154Sfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232541482dup" "" "pathogenic" "" "0000650493" "1" "50" "2" "233396103" "233396103" "subst" "0.00273511" "03575" "CHRND_000001" "g.233396103C>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs41265127}" "Germline" "" "rs41265127" "0" "" "" "g.232531393C>G" "" "VUS" "" "0000650494" "1" "50" "2" "233396134" "233396134" "subst" "0.000207167" "03575" "CHRND_000054" "g.233396134G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs139722128}" "Germline" "" "rs139722128" "0" "" "" "g.232531424G>A" "" "VUS" "" "0000650495" "1" "50" "2" "233399868" "233399868" "subst" "0.0011215" "03575" "CHRND_000050" "g.233399868G>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; {DB:CLININrs148939701}" "Germline" "" "rs148939701" "0" "" "" "g.232535158G>A" "" "VUS" "" "0000650496" "1" "50" "2" "233400171" "233400171" "subst" "0.012261" "03575" "CHRND_000026" "g.233400171A>G" "43/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "43 heterozygous; {DB:CLININrs114315112}" "Germline" "" "rs114315112" "0" "" "" "g.232535461A>G" "" "VUS" "" "0000654589" "0" "30" "2" "233386838" "233386838" "subst" "8.96716E-6" "01943" "CHRND_000055" "g.233386838C>T" "" "" "" "PRSS56(NM_001195129.1):c.414C>T (p.S138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232522128C>T" "" "likely benign" "" "0000669613" "3" "50" "2" "233400171" "233400171" "subst" "0.012261" "03575" "CHRND_000026" "g.233400171A>G" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs114315112}" "Germline" "" "rs114315112" "0" "" "" "g.232535461A>G" "" "VUS" "" "0000676551" "0" "30" "2" "233386038" "233386038" "subst" "2.31421E-5" "01943" "CHRND_000056" "g.233386038G>A" "" "" "" "PRSS56(NM_001195129.1):c.105G>A (p.S35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676552" "0" "30" "2" "233387833" "233387833" "subst" "7.01197E-5" "01943" "CHRND_000057" "g.233387833G>A" "" "" "" "PRSS56(NM_001195129.1):c.770G>A (p.R257Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676553" "0" "30" "2" "233388535" "233388535" "subst" "3.23227E-5" "01943" "CHRND_000058" "g.233388535C>A" "" "" "" "PRSS56(NM_001195129.1):c.1066C>A (p.Q356K), PRSS56(NM_001195129.2):c.1066C>A (p.(Gln356Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676554" "0" "30" "2" "233390171" "233390171" "subst" "0" "01943" "CHRND_000059" "g.233390171G>A" "" "" "" "PRSS56(NM_001195129.1):c.1767G>A (p.G589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676555" "0" "50" "2" "233396103" "233396103" "subst" "0.00273511" "01943" "CHRND_000001" "g.233396103C>G" "" "" "" "CHRND(NM_000751.2):c.862C>G (p.Q288E), CHRND(NM_000751.3):c.862C>G (p.(Gln288Glu), p.Q288E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676556" "0" "50" "2" "233396160" "233396160" "subst" "0.000986834" "01943" "CHRND_000060" "g.233396160C>T" "" "" "" "CHRND(NM_000751.2):c.919C>T (p.P307S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676557" "0" "30" "2" "233406204" "233406204" "subst" "0.00160016" "02326" "CHRND_000061" "g.233406204C>T" "" "" "" "CHRNG(NM_005199.5):c.471C>T (p.F157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688696" "0" "30" "2" "233386104" "233386104" "subst" "7.70499E-5" "01943" "CHRND_000062" "g.233386104G>A" "" "" "" "PRSS56(NM_001195129.1):c.171G>A (p.A57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688697" "0" "70" "2" "233388180" "233388180" "subst" "0.00106041" "02327" "CHRND_000037" "g.233388180G>T" "" "" "" "PRSS56(NM_001195129.1):c.904G>T (p.V302F), PRSS56(NM_001195129.2):c.904G>T (p.(Val302Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000688698" "0" "50" "2" "233406099" "233406099" "subst" "4.06121E-6" "02325" "CHRND_000063" "g.233406099C>A" "" "" "" "CHRNG(NM_005199.5):c.366C>A (p.F122L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000697401" "0" "70" "2" "233394756" "233394756" "subst" "0.000296664" "00006" "CHRND_000064" "g.233394756C>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.232530046C>T" "" "likely pathogenic" "" "0000718619" "0" "50" "2" "233387823" "233387823" "subst" "0.000420233" "01943" "PRSS56_000003" "g.233387823G>A" "" "" "" "PRSS56(NM_001195129.1):c.760G>A (p.D254N, p.(Asp254Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718620" "0" "30" "2" "233398698" "233398698" "subst" "0.00341903" "02326" "CHRND_000048" "g.233398698C>T" "" "" "" "CHRND(NM_000751.2):c.1105C>T (p.P369S), CHRND(NM_000751.3):c.1105C>T (p.P369S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718621" "0" "50" "2" "233404732" "233404732" "subst" "0" "02325" "CHRNG_000065" "g.233404732T>A" "" "" "" "CHRNG(NM_005199.5):c.86T>A (p.L29Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718622" "0" "30" "2" "233406177" "233406177" "subst" "4.46697E-5" "02325" "CHRND_000065" "g.233406177C>T" "" "" "" "CHRNG(NM_005199.5):c.444C>T (p.S148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800480" "0" "50" "2" "233396160" "233396160" "subst" "0.000986834" "02327" "CHRND_000060" "g.233396160C>T" "" "" "" "CHRND(NM_000751.2):c.919C>T (p.P307S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000833137" "1" "70" "2" "233391374" "233391374" "subst" "0" "00006" "CHRND_000009" "g.233391374T>C" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.232526664T>C" "" "likely pathogenic" "" "0000833191" "2" "70" "2" "233393068" "233393068" "subst" "4.06068E-6" "00006" "CHRND_000012" "g.233393068G>C" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.232528358G>C" "" "likely pathogenic" "" "0000849795" "0" "30" "2" "233389045" "233389045" "subst" "0.00169967" "01943" "CHRND_000067" "g.233389045G>A" "" "" "" "PRSS56(NM_001195129.1):c.1380G>A (p.P460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849796" "0" "50" "2" "233394846" "233394846" "subst" "0.000264598" "01943" "CHRND_000068" "g.233394846G>A" "" "" "" "CHRND(NM_000751.2):c.817G>A (p.D273N), CHRND(NM_000751.3):c.817G>A (p.(Asp273Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858407" "0" "50" "2" "233387234" "233387234" "subst" "0" "01943" "CHRND_000066" "g.233387234T>G" "" "" "" "PRSS56(NM_001195129.1):c.456T>G (p.N152K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858408" "0" "10" "2" "233391303" "233391303" "subst" "0.00582695" "01804" "CHRND_000027" "g.233391303C>G" "" "" "" "CHRND(NM_000751.2):c.117C>G (p.N39K, p.(Asn39Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858409" "0" "10" "2" "233391306" "233391306" "subst" "0.0315801" "01804" "CHRND_000019" "g.233391306G>A" "" "" "" "CHRND(NM_000751.2):c.120G>A (p.(Lys40=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885020" "0" "50" "2" "233387829" "233387829" "subst" "0" "02329" "CHRND_000069" "g.233387829T>C" "" "" "" "PRSS56(NM_001369848.1):c.766T>C (p.C256R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885021" "0" "50" "2" "233389082" "233389082" "subst" "0" "02329" "CHRND_000070" "g.233389082A>T" "" "" "" "PRSS56(NM_001369848.1):c.1417+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911635" "0" "50" "2" "233387246" "233387246" "subst" "3.09526E-5" "02327" "CHRND_000071" "g.233387246G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911636" "0" "50" "2" "233406173" "233406173" "subst" "3.65485E-5" "02327" "CHRND_000072" "g.233406173G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947796" "0" "70" "2" "233387243" "233387243" "del" "0" "02329" "CHRND_000073" "g.233387243del" "" "" "" "PRSS56(NM_001195129.2):c.465delG (p.W156Gfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000961966" "0" "50" "2" "233398674" "233398674" "subst" "0" "02327" "CHRND_000030" "g.233398674A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975089" "0" "30" "2" "233387763" "233387763" "subst" "0" "01804" "CHRND_000074" "g.233387763C>T" "" "" "" "PRSS56(NM_001195129.2):c.707-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975090" "0" "50" "2" "233388180" "233388180" "subst" "0.00106041" "01804" "CHRND_000037" "g.233388180G>T" "" "" "" "PRSS56(NM_001195129.1):c.904G>T (p.V302F), PRSS56(NM_001195129.2):c.904G>T (p.(Val302Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975091" "0" "50" "2" "233388535" "233388535" "subst" "3.23227E-5" "01804" "CHRND_000058" "g.233388535C>A" "" "" "" "PRSS56(NM_001195129.1):c.1066C>A (p.Q356K), PRSS56(NM_001195129.2):c.1066C>A (p.(Gln356Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975092" "0" "90" "2" "233406192" "233406192" "dup" "0" "01804" "CHRNG_000033" "g.233406192dup" "" "" "" "CHRNG(NM_005199.5):c.459dup (p.(Val154Serfs*24)), CHRNG(NM_005199.5):c.459dupA (p.V154Sfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000992655" "0" "30" "2" "233389065" "233389065" "subst" "0.00038397" "02327" "PRSS56_000006" "g.233389065G>T" "" "" "" "PRSS56(NM_001195129.1):c.1400G>T (p.R467L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992656" "0" "30" "2" "233392995" "233392995" "subst" "0.000255817" "01804" "CHRND_000075" "g.233392995G>C" "" "" "" "CHRND(NM_000751.2):c.267G>C (p.(Lys89Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992657" "0" "30" "2" "233393237" "233393237" "subst" "4.06095E-6" "01804" "CHRND_000076" "g.233393237A>G" "" "" "" "CHRND(NM_000751.2):c.380A>G (p.(Tyr127Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992658" "0" "30" "2" "233394675" "233394675" "subst" "0.000225275" "01804" "CHRND_000077" "g.233394675C>T" "" "" "" "CHRND(NM_000751.2):c.646C>T (p.(Arg216Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992659" "0" "30" "2" "233396298" "233396298" "subst" "0" "01804" "CHRND_000078" "g.233396298T>A" "" "" "" "CHRND(NM_000751.2):c.979T>A (p.(Cys327Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992660" "0" "50" "2" "233398816" "233398816" "subst" "0" "01804" "CHRND_000079" "g.233398816A>G" "" "" "" "CHRND(NM_000751.2):c.1223A>G (p.(His408Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033106" "0" "50" "2" "233393601" "233393601" "subst" "0" "01804" "CHRND_000080" "g.233393601C>A" "" "" "" "CHRND(NM_000751.3):c.539C>A (p.(Thr180Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033107" "0" "50" "2" "233394759" "233394759" "del" "0" "01804" "CHRND_000081" "g.233394759del" "" "" "" "CHRND(NM_000751.3):c.730del (p.(Arg244Alafs*82))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033108" "0" "30" "2" "233394846" "233394846" "subst" "0.000264598" "01804" "CHRND_000068" "g.233394846G>A" "" "" "" "CHRND(NM_000751.2):c.817G>A (p.D273N), CHRND(NM_000751.3):c.817G>A (p.(Asp273Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033109" "0" "50" "2" "233394854" "233394854" "subst" "0" "02327" "CHRND_000082" "g.233394854G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033110" "0" "50" "2" "233398720" "233398720" "subst" "0.000121902" "01804" "CHRND_000083" "g.233398720G>A" "" "" "" "CHRND(NM_000751.3):c.1127G>A (p.(Arg376Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033111" "0" "50" "2" "233404829" "233404829" "subst" "1.62464E-5" "01804" "CHRND_000084" "g.233404829C>A" "" "" "" "CHRNG(NM_005199.5):c.183C>A (p.(Asn61Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033112" "0" "30" "2" "233406076" "233406076" "subst" "0" "01804" "CHRND_000085" "g.233406076G>A" "" "" "" "CHRNG(NM_005199.5):c.351-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033113" "0" "90" "2" "233406192" "233406192" "dup" "0" "02325" "CHRNG_000033" "g.233406192dup" "" "" "" "CHRNG(NM_005199.5):c.459dup (p.(Val154Serfs*24)), CHRNG(NM_005199.5):c.459dupA (p.V154Sfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045815" "0" "50" "2" "233398937" "233398937" "subst" "7.71686E-5" "02325" "CHRND_000086" "g.233398937G>A" "" "" "" "CHRND(NM_000751.3):c.1256G>A (p.R419Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049433" "0" "30" "2" "233392138" "233392138" "subst" "1.62497E-5" "03779" "CHRND_000087" "g.233392138A>G" "" "" "" "" "" "Unknown" "" "rs200755491" "0" "" "" "" "" "likely benign" "" "0001051132" "0" "50" "2" "233386097" "233386097" "subst" "7.70618E-6" "01804" "CHRND_000088" "g.233386097G>A" "" "" "" "PRSS56(NM_001195129.2):c.164G>A (p.(Arg55Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051134" "0" "50" "2" "233390936" "233390936" "subst" "8.1624E-6" "01804" "CHRND_000089" "g.233390936C>T" "" "" "" "CHRND(NM_000751.3):c.11C>T (p.(Pro4Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051135" "0" "10" "2" "233396103" "233396103" "subst" "0.00273511" "01804" "CHRND_000001" "g.233396103C>G" "" "" "" "CHRND(NM_000751.2):c.862C>G (p.Q288E), CHRND(NM_000751.3):c.862C>G (p.(Gln288Glu), p.Q288E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001051136" "0" "30" "2" "233396182" "233396182" "subst" "2.84276E-5" "01804" "CHRND_000090" "g.233396182C>T" "" "" "" "CHRND(NM_000751.3):c.932+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051137" "0" "30" "2" "233405431" "233405431" "subst" "0" "01804" "CHRND_000091" "g.233405431G>C" "" "" "" "CHRNG(NM_005199.5):c.350+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001062623" "0" "70" "2" "233393338" "233393338" "subst" "4.0619E-6" "03779" "CHRND_000092" "g.233393338G>A" "" "" "" "" "" "Unknown" "" "rs755085400" "0" "" "" "" "" "likely pathogenic" "" ## 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 CHRND ## Count = 166 "{{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}}" "0000062410" "00005153" "10" "243" "0" "243" "0" "c.243C>T" "r.(=)" "p.(=)" "" "0000062411" "00005153" "10" "117" "0" "117" "0" "c.117C>G" "r.(?)" "p.(Asn39Lys)" "" "0000062412" "00005153" "10" "1047" "9" "1047" "9" "c.1047+9T>C" "r.(=)" "p.(=)" "" "0000062413" "00005153" "50" "199" "-68" "199" "-67" "c.199-68_199-67del" "r.(=)" "p.(=)" "" "0000062414" "00005153" "90" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Pro307Leu)" "" "0000062415" "00005153" "50" "1703" "0" "1703" "0" "c.*149A>G" "r.(=)" "p.(=)" "" "0000062416" "00005153" "50" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Cys)" "" "0000249000" "00005153" "10" "-1008" "0" "-1008" "0" "c.-1008A>G" "r.(?)" "p.(=)" "" "0000270234" "00005153" "30" "862" "0" "862" "0" "c.862C>G" "r.(?)" "p.(Gln288Glu)" "" "0000270236" "00005153" "30" "6303" "0" "6303" "0" "c.*4749G>A" "r.(=)" "p.(=)" "" "0000270237" "00005153" "30" "7710" "0" "7710" "0" "c.*6156G>A" "r.(=)" "p.(=)" "" "0000273553" "00005153" "50" "1442" "0" "1442" "0" "c.1442T>C" "r.(?)" "p.(Met481Thr)" "" "0000297404" "00005153" "10" "-4343" "0" "-4343" "0" "c.-4343T>C" "r.(?)" "p.(=)" "" "0000306517" "00005153" "30" "-2366" "0" "-2366" "0" "c.-2366G>A" "r.(?)" "p.(=)" "" "0000306518" "00005153" "50" "-2102" "0" "-2102" "0" "c.-2102T>G" "r.(?)" "p.(=)" "" "0000306519" "00005153" "50" "-1861" "0" "-1861" "0" "c.-1861G>T" "r.(?)" "p.(=)" "" "0000328169" "00005153" "30" "-3103" "0" "-3103" "0" "c.-3103G>A" "r.(?)" "p.(=)" "" "0000328173" "00005153" "30" "6303" "0" "6303" "0" "c.*4749G>A" "r.(=)" "p.(=)" "" "0000337561" "00005153" "10" "6387" "0" "6387" "0" "c.*4833C>T" "r.(=)" "p.(=)" "" "0000347036" "00005153" "50" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "" "0000347086" "00005153" "50" "6264" "0" "6264" "0" "c.*4710T>A" "r.(=)" "p.(=)" "" "0000352738" "00005153" "70" "0" "0" "0" "0" "c.?" "-" "p.Glu397Lys" "10" "0000352739" "00005153" "70" "0" "0" "0" "0" "c.?" "-" "p.Asn457del" "10" "0000352740" "00005153" "70" "0" "0" "0" "0" "c.?" "-" "p.Glu406Lys" "10" "0000352741" "00005153" "70" "0" "0" "0" "0" "c.?" "-" "p.Lys403Glu" "10" "0000352742" "00005153" "90" "0" "0" "0" "0" "c.?" "-" "p.Glu402Leu" "10" "0000352743" "00005153" "90" "0" "0" "0" "0" "c.?" "-" "p.Phe401Ala" "10" "0000352744" "00005153" "90" "0" "0" "0" "0" "c.?" "-" "p.Met400Ala" "10" "0000352745" "00005153" "90" "0" "0" "0" "0" "c.?" "-" "p.Asn398Lys" "10" "0000352746" "00005153" "10" "862" "0" "862" "0" "c.862C>G" "r.(?)" "p.Gln288Glu" "8" "0000352747" "00005153" "90" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.Glu80Lys" "3" "0000352748" "00005153" "90" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.Ser289Phe" "8" "0000352749" "00005153" "70" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.Glu402Lys" "10" "0000352750" "00005153" "90" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.Glu402Lys" "10" "0000352751" "00005153" "90" "188" "0" "188" "0" "c.188T>C" "r.(?)" "p.Leu63Pro" "2" "0000352752" "00005153" "90" "236" "0" "236" "0" "c.236T>A" "r.(?)" "p.Ile79Lys" "3" "0000352753" "00005153" "90" "812" "0" "812" "0" "c.812C>A" "r.(?)" "p.Pro271Gln" "7" "0000352754" "00005153" "90" "340" "0" "340" "0" "c.340G>C" "r.(?)" "p.Val114Leu" "4" "0000353192" "00005153" "10" "12" "0" "12" "0" "c.12A>G" "r.(?)" "p.(=)" "1" "0000353193" "00005153" "10" "12" "0" "12" "0" "c.12A>G" "r.=" "p.=" "1" "0000353194" "00005153" "30" "862" "0" "862" "0" "c.862C>G" "r.862c>g" "p.Gln288Glu" "8" "0000353195" "00005153" "10" "1606" "0" "1606" "0" "c.*52A>G" "r.*52a>g" "p.=" "12" "0000353196" "00005153" "10" "12" "0" "12" "0" "c.12A>G" "r.=" "p.=" "1" "0000353197" "00005153" "10" "12" "0" "12" "0" "c.12A>G" "r.=" "p.=" "1" "0000353198" "00005153" "10" "120" "0" "120" "0" "c.120G>A" "r.(?)" "p.(=)" "2" "0000353199" "00005153" "10" "120" "0" "120" "0" "c.120G>A" "r.(?)" "p.(=)" "2" "0000353200" "00005153" "10" "12" "0" "12" "0" "c.12A>G" "r.(?)" "p.(=)" "1" "0000353201" "00005153" "10" "12" "0" "12" "0" "c.12A>G" "r.(?)" "p.(=)" "1" "0000353202" "00005153" "10" "12" "0" "12" "0" "c.12A>G" "r.(?)" "p.(=)" "1" "0000353203" "00005153" "10" "12" "0" "12" "0" "c.12A>G" "r.(?)" "p.(=)" "1" "0000353204" "00005153" "10" "12" "0" "12" "0" "c.12A>G" "r.(?)" "p.(=)" "1" "0000353205" "00005153" "10" "12" "0" "12" "0" "c.12A>G" "r.(?)" "p.(=)" "1" "0000353206" "00005153" "10" "12" "0" "12" "0" "c.12A>G" "r.(?)" "p.(=)" "1" "0000353208" "00005153" "10" "1606" "0" "1606" "0" "c.*52A>G" "r.=" "p.=" "12" "0000353209" "00005153" "10" "12" "0" "12" "0" "c.12A>G" "r.=" "p.=" "1" "0000353210" "00005153" "10" "12" "0" "12" "0" "c.12A>G" "r.=" "p.=" "1" "0000353211" "00005153" "90" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Glu80Lys)" "3" "0000353212" "00005153" "90" "820" "0" "8201" "1" "c.820_8201+1del" "r.spl" "p.?" "7_7i" "0000353213" "00005153" "90" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Ser289Phe)" "8" "0000353214" "00005153" "90" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "10" "0000353215" "00005153" "90" "900" "0" "1048" "-283" "c.900_1048-283delinsA" "r.spl?" "p.?" "8_9i" "0000353216" "00005153" "90" "1390" "0" "1390" "0" "c.1390C>T" "r.(?)" "p.(Arg464*)" "12" "0000353217" "00005153" "90" "283" "0" "283" "0" "c.283T>C" "r.(?)" "p.(Phe95Leu)" "4" "0000353218" "00005153" "90" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(Trp78*)" "3" "0000353219" "00005153" "90" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(Trp78*)" "3" "0000353220" "00005153" "90" "188" "0" "188" "0" "c.188T>C" "r.(?)" "p.(Leu63Pro)" "2" "0000353221" "00005153" "90" "236" "0" "236" "0" "c.236T>A" "r.(?)" "p.(Ile79Lys)" "3" "0000353222" "00005153" "90" "340" "0" "340" "0" "c.340G>C" "r.(?)" "p.(Val114Leu)" "4" "0000353223" "00005153" "90" "812" "0" "812" "0" "c.812C>A" "r.(?)" "p.(Pro271Gln)" "7" "0000353224" "00005153" "90" "812" "0" "812" "0" "c.812C>A" "r.(?)" "p.(Pro271Gln)" "7" "0000353225" "00005153" "90" "866" "0" "866" "0" "c.866C>A" "r.(?)" "p.Ser289Tyr" "8" "0000353226" "00005153" "90" "920" "0" "920" "0" "c.920T>C" "r.(?)" "p.(Leu307Pro)" "8" "0000353227" "00005153" "90" "920" "0" "920" "0" "c.920T>C" "r.(?)" "p.(Leu307Pro)" "8" "0000353228" "00005153" "10" "1606" "0" "1606" "0" "c.*52A>G" "r.(?)" "p.(=)" "12" "0000353229" "00005153" "90" "812" "0" "812" "0" "c.812C>A" "r.(?)" "p.(Pro271Gln)" "7" "0000353230" "00005153" "90" "812" "0" "812" "0" "c.812C>A" "r.(?)" "p.(Pro271Gln)" "7" "0000353231" "00005153" "90" "812" "0" "812" "0" "c.812C>A" "r.(?)" "p.(Pro271Gln)" "7" "0000353232" "00005153" "90" "812" "0" "812" "0" "c.812C>A" "r.(?)" "p.(Pro271Gln)" "7" "0000353233" "00005153" "30" "862" "0" "862" "0" "c.862C>G" "r.862c>g" "p.Gln288Glu" "8" "0000353234" "00005153" "10" "12" "0" "12" "0" "c.12A>G" "r.(?)" "p.(=)" "1" "0000353235" "00005153" "90" "812" "0" "812" "0" "c.812C>A" "r.(?)" "p.(Pro271Gln)" "7" "0000353236" "00005153" "10" "12" "0" "12" "0" "c.12A>G" "r.(?)" "p.(=)" "1" "0000353237" "00005153" "90" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(Trp78*)" "3" "0000353238" "00005153" "90" "283" "0" "283" "0" "c.283T>C" "r.(?)" "p.(Phe95Leu)" "4" "0000353239" "00005153" "90" "1390" "0" "1390" "0" "c.1390C>T" "r.(?)" "p.(Arg464*)" "12" "0000353240" "00005153" "70" "887" "0" "887" "0" "c.887C>T" "r.(?)" "p.(Ser296Phe)" "8" "0000353241" "00005153" "70" "869" "0" "869" "0" "c.869T>C" "r.(?)" "p.(Val290Ala)" "8" "0000398478" "00005153" "50" "70" "0" "70" "0" "c.70G>A" "r.(?)" "p.(Glu24Lys)" "" "0000515075" "00005153" "10" "-4395" "0" "-4395" "0" "c.-4395G>C" "r.(?)" "p.(=)" "" "0000515076" "00005153" "30" "-3119" "0" "-3119" "0" "c.-3119T>C" "r.(?)" "p.(=)" "" "0000515077" "00005153" "50" "-2746" "0" "-2746" "0" "c.-2746G>T" "r.(?)" "p.(=)" "" "0000515079" "00005153" "30" "-2393" "0" "-2393" "0" "c.-2393C>T" "r.(?)" "p.(=)" "" "0000515080" "00005153" "30" "-2386" "0" "-2386" "0" "c.-2386G>T" "r.(?)" "p.(=)" "" "0000515081" "00005153" "30" "-2369" "0" "-2369" "0" "c.-2369C>T" "r.(?)" "p.(=)" "" "0000515083" "00005153" "10" "-2113" "0" "-2113" "0" "c.-2113T>G" "r.(?)" "p.(=)" "" "0000515085" "00005153" "10" "-1474" "0" "-1474" "0" "c.-1474C>T" "r.(?)" "p.(=)" "" "0000515086" "00005153" "50" "-829" "0" "-829" "0" "c.-829G>T" "r.(?)" "p.(=)" "" "0000515087" "00005153" "30" "-727" "0" "-727" "0" "c.-727C>G" "r.(?)" "p.(=)" "" "0000515089" "00005153" "10" "117" "0" "117" "0" "c.117C>G" "r.(?)" "p.(Asn39Lys)" "" "0000515092" "00005153" "30" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Pro369Ser)" "" "0000515093" "00005153" "10" "1371" "7" "1371" "7" "c.1371+7G>T" "r.(=)" "p.(=)" "" "0000515094" "00005153" "30" "1400" "0" "1400" "0" "c.1400G>A" "r.(?)" "p.(Arg467His)" "" "0000578222" "00005153" "90" "769" "0" "769" "0" "c.769T>C" "r.(?)" "p.(Cys257Arg)" "" "0000578223" "00005153" "90" "1315" "0" "1315" "0" "c.1315del" "r.(?)" "p.(Val439Trpfs*11)" "" "0000607818" "00005153" "90" "7724" "0" "7724" "0" "c.*6170dup" "r.(?)" "p.(=)" "" "0000650493" "00005153" "50" "862" "0" "862" "0" "c.862C>G" "r.(?)" "p.(Gln288Glu)" "" "0000650494" "00005153" "50" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298His)" "" "0000650495" "00005153" "50" "1400" "0" "1400" "0" "c.1400G>A" "r.(?)" "p.(Arg467His)" "" "0000650496" "00005153" "50" "1703" "0" "1703" "0" "c.*149A>G" "r.(=)" "p.(=)" "" "0000654589" "00005153" "30" "-4088" "0" "-4088" "0" "c.-4088C>T" "r.(?)" "p.(=)" "" "0000669613" "00005153" "50" "1703" "0" "1703" "0" "c.*149A>G" "r.(=)" "p.(=)" "" "0000676551" "00005153" "30" "-4888" "0" "-4888" "0" "c.-4888G>A" "r.(?)" "p.(=)" "" "0000676552" "00005153" "30" "-3093" "0" "-3093" "0" "c.-3093G>A" "r.(?)" "p.(=)" "" "0000676553" "00005153" "30" "-2391" "0" "-2391" "0" "c.-2391C>A" "r.(?)" "p.(=)" "" "0000676554" "00005153" "30" "-755" "0" "-755" "0" "c.-755G>A" "r.(?)" "p.(=)" "" "0000676555" "00005153" "50" "862" "0" "862" "0" "c.862C>G" "r.(?)" "p.(Gln288Glu)" "" "0000676556" "00005153" "50" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Pro307Ser)" "" "0000676557" "00005153" "30" "7736" "0" "7736" "0" "c.*6182C>T" "r.(=)" "p.(=)" "" "0000688696" "00005153" "30" "-4822" "0" "-4822" "0" "c.-4822G>A" "r.(?)" "p.(=)" "" "0000688697" "00005153" "70" "-2746" "0" "-2746" "0" "c.-2746G>T" "r.(?)" "p.(=)" "" "0000688698" "00005153" "50" "7631" "0" "7631" "0" "c.*6077C>A" "r.(=)" "p.(=)" "" "0000697401" "00005153" "70" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Cys)" "" "0000718619" "00005153" "50" "-3103" "0" "-3103" "0" "c.-3103G>A" "r.(?)" "p.(=)" "" "0000718620" "00005153" "30" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Pro369Ser)" "" "0000718621" "00005153" "50" "6264" "0" "6264" "0" "c.*4710T>A" "r.(=)" "p.(=)" "" "0000718622" "00005153" "30" "7709" "0" "7709" "0" "c.*6155C>T" "r.(=)" "p.(=)" "" "0000800480" "00005153" "50" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Pro307Ser)" "" "0000833137" "00005153" "70" "188" "0" "188" "0" "c.188T>C" "r.(?)" "p.(Leu63Pro)" "" "0000833191" "00005153" "70" "340" "0" "340" "0" "c.340G>C" "r.(?)" "p.(Val114Leu)" "" "0000849795" "00005153" "30" "-1881" "0" "-1881" "0" "c.-1881G>A" "r.(?)" "p.(=)" "" "0000849796" "00005153" "50" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Asp273Asn)" "" "0000858407" "00005153" "50" "-3692" "0" "-3692" "0" "c.-3692T>G" "r.(?)" "p.(=)" "" "0000858408" "00005153" "10" "117" "0" "117" "0" "c.117C>G" "r.(?)" "p.(Asn39Lys)" "" "0000858409" "00005153" "10" "120" "0" "120" "0" "c.120G>A" "r.(?)" "p.(Lys40=)" "" "0000885020" "00005153" "50" "-3097" "0" "-3097" "0" "c.-3097T>C" "r.(?)" "p.(=)" "" "0000885021" "00005153" "50" "-1844" "0" "-1844" "0" "c.-1844A>T" "r.(?)" "p.(=)" "" "0000911635" "00005153" "50" "-3680" "0" "-3680" "0" "c.-3680G>T" "r.(?)" "p.(=)" "" "0000911636" "00005153" "50" "7705" "0" "7705" "0" "c.*6151G>A" "r.(=)" "p.(=)" "" "0000947796" "00005153" "70" "-3683" "0" "-3683" "0" "c.-3683del" "r.(?)" "p.(=)" "" "0000961966" "00005153" "50" "1081" "0" "1081" "0" "c.1081A>T" "r.(?)" "p.(Met361Leu)" "" "0000975089" "00005153" "30" "-3163" "0" "-3163" "0" "c.-3163C>T" "r.(?)" "p.(=)" "" "0000975090" "00005153" "50" "-2746" "0" "-2746" "0" "c.-2746G>T" "r.(?)" "p.(=)" "" "0000975091" "00005153" "50" "-2391" "0" "-2391" "0" "c.-2391C>A" "r.(?)" "p.(=)" "" "0000975092" "00005153" "90" "7724" "0" "7724" "0" "c.*6170dup" "r.(?)" "p.(=)" "" "0000992655" "00005153" "30" "-1861" "0" "-1861" "0" "c.-1861G>T" "r.(?)" "p.(=)" "" "0000992656" "00005153" "30" "267" "0" "267" "0" "c.267G>C" "r.(?)" "p.(Lys89Asn)" "" "0000992657" "00005153" "30" "380" "0" "380" "0" "c.380A>G" "r.(?)" "p.(Tyr127Cys)" "" "0000992658" "00005153" "30" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Trp)" "" "0000992659" "00005153" "30" "979" "0" "979" "0" "c.979T>A" "r.(?)" "p.(Cys327Ser)" "" "0000992660" "00005153" "50" "1223" "0" "1223" "0" "c.1223A>G" "r.(?)" "p.(His408Arg)" "" "0001033106" "00005153" "50" "539" "0" "539" "0" "c.539C>A" "r.(?)" "p.(Thr180Asn)" "" "0001033107" "00005153" "50" "730" "0" "730" "0" "c.730del" "r.(?)" "p.(Arg244Alafs*82)" "" "0001033108" "00005153" "30" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Asp273Asn)" "" "0001033109" "00005153" "50" "820" "5" "820" "5" "c.820+5G>A" "r.spl?" "p.?" "" "0001033110" "00005153" "50" "1127" "0" "1127" "0" "c.1127G>A" "r.(?)" "p.(Arg376Gln)" "" "0001033111" "00005153" "50" "6361" "0" "6361" "0" "c.*4807C>A" "r.(=)" "p.(=)" "" "0001033112" "00005153" "30" "7608" "0" "7608" "0" "c.*6054G>A" "r.(=)" "p.(=)" "" "0001033113" "00005153" "90" "7724" "0" "7724" "0" "c.*6170dup" "r.(?)" "p.(=)" "" "0001045815" "00005153" "50" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Arg419Gln)" "" "0001049433" "00005153" "30" "226" "0" "226" "0" "c.226A>G" "r.(?)" "p.(Asn76Asp)" "" "0001051132" "00005153" "50" "-4829" "0" "-4829" "0" "c.-4829G>A" "r.(?)" "p.(=)" "" "0001051134" "00005153" "50" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Pro4Leu)" "" "0001051135" "00005153" "10" "862" "0" "862" "0" "c.862C>G" "r.(?)" "p.(Gln288Glu)" "" "0001051136" "00005153" "30" "932" "9" "932" "9" "c.932+9C>T" "r.(=)" "p.(=)" "" "0001051137" "00005153" "30" "6963" "0" "6963" "0" "c.*5409G>C" "r.(=)" "p.(=)" "" "0001062623" "00005153" "70" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Asp161Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 67 "{{screeningid}}" "{{variantid}}" "0000035291" "0000062410" "0000035292" "0000062411" "0000035293" "0000062412" "0000035294" "0000062413" "0000035295" "0000062414" "0000035296" "0000062415" "0000035297" "0000062416" "0000153824" "0000353192" "0000153825" "0000353193" "0000153847" "0000353194" "0000153847" "0000353195" "0000153847" "0000353196" "0000153847" "0000353197" "0000153849" "0000353198" "0000153849" "0000353199" "0000153850" "0000353200" "0000153851" "0000353201" "0000153851" "0000353202" "0000153852" "0000353203" "0000153852" "0000353204" "0000153853" "0000353205" "0000153857" "0000353206" "0000153925" "0000353208" "0000153925" "0000353209" "0000153925" "0000353210" "0000153926" "0000353211" "0000153926" "0000353212" "0000153927" "0000353213" "0000153928" "0000353214" "0000153928" "0000353215" "0000153929" "0000353216" "0000153929" "0000353217" "0000153930" "0000353218" "0000153930" "0000353219" "0000153931" "0000353220" "0000153931" "0000353221" "0000153931" "0000353222" "0000153932" "0000353223" "0000153932" "0000353224" "0000153933" "0000353225" "0000153934" "0000353226" "0000153934" "0000353227" "0000153935" "0000353228" "0000153936" "0000353229" "0000153936" "0000353230" "0000153937" "0000353231" "0000153937" "0000353232" "0000153938" "0000353233" "0000153939" "0000353234" "0000153940" "0000353235" "0000153941" "0000353236" "0000153942" "0000353237" "0000153943" "0000353238" "0000153944" "0000353239" "0000153945" "0000353240" "0000153946" "0000353241" "0000175710" "0000398478" "0000249440" "0000578222" "0000249440" "0000578223" "0000293804" "0000650493" "0000293805" "0000650494" "0000293806" "0000650495" "0000293807" "0000650496" "0000305925" "0000669613" "0000315312" "0000697401" "0000400330" "0000833137" "0000400330" "0000833191"