### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = JPH3) # 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}}" "JPH3" "junctophilin 3" "16" "q24.3" "unknown" "NG_009797.1" "UD_138392490803" "" "https://www.LOVD.nl/JPH3" "" "1" "14203" "57338" "605268" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/JPH3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-14 22:03:02" "00000" "2025-05-05 21:14:00" ## 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}}" "00010277" "JPH3" "junctophilin 3" "001" "NM_020655.2" "" "NP_065706.2" "" "" "" "-254" "3743" "2247" "87636499" "87731762" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00261" "HDL2" "Huntington disease-like, type 2 (HDL2)" "AD" "606438" "" "" "" "00006" "2013-10-29 08:47:24" "00006" "2020-10-08 08:37:05" "00388" "KBGS" "KBG syndrome (KBGS)" "AD" "148050" "" "autosomal dominant" "" "00006" "2014-05-29 10:09:45" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "JPH3" "00261" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00003127" "" "" "" "17" "" "00006" "{PMID:Margolis 2001:11761463}, {PMID:Holmes 2001:11694876}" "3-generation family, 17 affected" "F" "no" "United States" ">37y" "0" "" "" "African-American" "FamWPatIII19" "00003128" "" "" "00003127" "1" "" "00006" "{PMID:Margolis 2001:11761463}, {PMID:Holmes 2001:11694876}" "" "F" "no" "United States" ">47y" "0" "" "" "African-American" "" "00003129" "" "" "00003127" "1" "" "00006" "{PMID:Margolis 2001:11761463}, {PMID:Holmes 2001:11694876}" "" "F" "no" "United States" ">52y" "0" "" "" "African-American" "" "00019959" "" "" "" "2" "" "00784" "{PMID:Ockeloen 2015:25424714}, {PMID:Monroe 2016:26845106}" "2 generation family, affected twins (F, M), unaffected non carrier parents" "F" "" "(Netherlands)" "" "0" "" "" "" "Pat9;Pat4" "00050549" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00313932" "" "" "" "1" "" "02190" "{PMID:Bourinaris 2021:33824468}, {DOI:Bourinaris 2021:10.1038/s41431-021-00866-1}" "adopted" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00441911" "" "" "" "2" "" "00006" "{PMID:Holmes 2001:11694876}" "family, affected sister/brother" "F" "" "United States" "" "0" "" "" "African-American" "patient" "00441912" "" "" "00441911" "1" "" "00006" "{PMID:Holmes 2001:11694876}" "brother" "M" "" "United States" "" "0" "" "" "African-American" "patient" "00441913" "" "" "" "1" "" "00006" "{PMID:Holmes 2001:11694876}" "" "M" "" "United States" "" "0" "" "" "African-American" "patient" "00441914" "" "" "" "1" "" "00006" "{PMID:Holmes 2001:11694876}" "" "M" "" "United States" "" "0" "" "" "African-American" "patient" "00441915" "" "" "" "1" "" "00006" "{PMID:Holmes 2001:11694876}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00441916" "" "" "" "1" "" "00006" "{PMID:Holmes 2001:11694876}" "" "F" "" "Morocco" "" "0" "" "" "" "patient" "00441917" "" "" "" "1" "" "00006" "{PMID:Stevanin 2002:11914418}" "patient" "F" "" "Morocco" "" "0" "" "" "" "SAL-2289-001" "00441918" "" "" "" "3" "" "00006" "{PMID:Walker 2003:14557581}" "5-generation family, 3 affected (3M)" "M" "" "United States" "" "0" "" "" "African-American;American-native-Cherokee;white" "FamPatIv1/Pat1" "00441919" "" "" "00441918" "1" "" "00006" "{PMID:Walker 2003:14557581}" "" "M" "" "United States" "" "0" "" "" "African-American;American-native-Cherokee;white" "FamPatV1/Pat2" "00441920" "" "" "00441918" "1" "" "00006" "{PMID:Walker 2003:14557581}" "" "M" "" "United States" "" "0" "" "" "African-American;American-native-Cherokee;white" "FamPatV5/Pat3" "00441921" "" "" "" "3" "" "00006" "{PMID:Walker 2003:14557581}" "" "F" "" "Mexico" "" "0" "" "" "" "Fam3Pat6" "00441922" "" "" "00441921" "1" "" "00006" "{PMID:Walker 2003:14557581}" "" "M" "" "Mexico" "" "0" "" "" "" "Fam3Pat7" "00441923" "" "" "00441921" "1" "" "00006" "{PMID:Walker 2003:14557581}" "" "M" "" "Mexico" "" "0" "" "" "" "Fam3Pat8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00003127" "00261" "00003128" "00261" "00003129" "00261" "00019959" "00388" "00050549" "00198" "00313932" "00108" "00441911" "00261" "00441912" "00261" "00441913" "00261" "00441914" "00261" "00441915" "00261" "00441916" "00261" "00441917" "00261" "00441918" "00261" "00441919" "00261" "00441920" "00261" "00441921" "00261" "00441922" "00261" "00441923" "00261" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00108, 00198, 00261, 00388 ## Count = 19 "{{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}}" "0000001945" "00261" "00003127" "00006" "Familial, autosomal dominant" "" "weight loss, dementia, psychiatric symptoms, dysarthria, chorea, rigidity, dystonia, action tremor, hyperreflexia, extensor plantars, primitive reflexes, bradykinesia, reduced movement, no dysmetria, not ambulatory, saccadic pursuit" "" "" "" "" "" "" "" "" "" "" "" "0000001946" "00261" "00003128" "00006" "Familial, autosomal dominant" "47y" "weight loss, dementia, psychiatric symptoms, dysarthria, no chorea, rigidity, dystonia, action tremor, hyperreflexia, (extensor plantars), reduced movement, not ambulatory, no saccadic pursuit" "35y" "" "" "" "" "" "" "" "" "" "" "0000001947" "00261" "00003129" "00006" "Familial, autosomal dominant" "52y" "weight loss, dementia, psychiatric symptoms, dysarthria, no chorea, rigidity, dystonia, no action tremor, hyperreflexia, extensor plantars, primitive reflexes, bradykinesia, reduced movement, not ambulatory, no saccadic pursuit" "35y" "" "" "" "" "" "" "" "" "" "" "0000017735" "00388" "00019959" "00784" "Isolated (sporadic)" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "0000037161" "00198" "00050549" "00006" "Isolated (sporadic)" "" "hypertelorism, depressed nasal bridge, generalized hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000331293" "00108" "00313932" "00006" "Unknown" "32y" "see paper; ..., neurodevelopmental anomalies, delayed motor milestones, abnormal social communication, language difficulties, borderline cognitive impairment; paroxysmal attacks of dystonia since early infancy" "" "" "" "" "" "" "" "" "" "" "" "0000331294" "00261" "00441911" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "HDL2" "" "" "0000331295" "00261" "00441912" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "HDL2" "" "" "0000331296" "00261" "00441913" "00006" "Familial, autosomal dominant" "" "" "45y" "" "" "" "" "" "" "" "HDL2" "" "" "0000331297" "00261" "00441914" "00006" "Familial, autosomal dominant" "" "" "41y" "" "" "" "" "" "" "" "HDL2" "" "" "0000331298" "00261" "00441915" "00006" "Familial, autosomal dominant" "" "sudden onset cerebellar signs, uncontrolled diabetes, no clear family history" "" "" "" "" "" "" "" "" "HDL2" "" "" "0000331299" "00261" "00441916" "00006" "Familial, autosomal dominant" "" "movement disorder" "42y" "" "" "" "" "" "" "" "HDL2" "" "" "0000331300" "00261" "00441917" "00006" "Unknown" "44y" "see paper; ..., 42y-mild choreic movements face and extremities; slight memory loss, bedside Mini-Mental Status score of 22/30; subcortical dementia" "" "" "" "" "" "" "" "" "HDL2" "" "" "0000331301" "00261" "00441918" "00006" "Familial, autosomal dominant" "56y" "56y-deceased; dementia, chorea" "34y" "" "" "" "" "" "" "" "HDL2" "" "" "0000331303" "00261" "00441919" "00006" "Familial, autosomal dominant" "31y" "dementia, chorea, fragile X syndrome" "29y" "" "" "" "" "" "" "" "HDL2" "" "" "0000331304" "00261" "00441920" "00006" "Familial, autosomal dominant" "38y" "dementia, parkinsonism" "28y" "" "" "" "" "" "" "" "HDL2" "" "" "0000331305" "00261" "00441921" "00006" "Familial, autosomal dominant" "60y" "dementia, chorea, parkinsonism" "55y" "" "" "" "" "" "" "" "HDL2" "" "" "0000331306" "00261" "00441922" "00006" "Familial, autosomal dominant" "13y" "depression, mild chorea, aggressiveness" "12y" "" "" "" "" "" "" "" "HDL2" "" "" "0000331307" "00261" "00441923" "00006" "Familial, autosomal dominant" "41y" "depression, mild chorea" "39y" "" "" "" "" "" "" "" "HDL2" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000003042" "00003127" "1" "00006" "00006" "2013-10-29 21:27:39" "" "" "PCR;SEQ" "DNA" "" "" "0000003043" "00003128" "1" "00006" "00006" "2013-10-29 21:54:55" "" "" "PCR" "DNA" "" "" "0000003044" "00003129" "1" "00006" "00006" "2013-10-29 22:02:44" "" "" "PCR" "DNA" "" "" "0000019953" "00019959" "1" "00784" "00784" "2014-09-21 22:38:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000050494" "00050549" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000315105" "00313932" "1" "02190" "02190" "2020-10-07 13:54:39" "" "" "SEQ-NG-I" "DNA" "" "" "0000443396" "00441911" "1" "00006" "00006" "2023-11-15 09:56:45" "" "" "PCR" "DNA" "" "" "0000443397" "00441912" "1" "00006" "00006" "2023-11-15 10:10:53" "" "" "PCR" "DNA" "" "" "0000443398" "00441913" "1" "00006" "00006" "2023-11-15 10:26:19" "" "" "PCR" "DNA" "" "" "0000443399" "00441914" "1" "00006" "00006" "2023-11-15 10:27:25" "" "" "PCR" "DNA" "" "" "0000443400" "00441915" "1" "00006" "00006" "2023-11-15 10:30:04" "" "" "PCR" "DNA" "" "" "0000443401" "00441916" "1" "00006" "00006" "2023-11-15 10:34:05" "" "" "PCR" "DNA" "" "" "0000443402" "00441917" "1" "00006" "00006" "2023-11-15 10:44:02" "" "" "SEQ" "DNA" "" "" "0000443403" "00441918" "1" "00006" "00006" "2023-11-15 10:54:36" "" "" "PCR" "DNA" "" "" "0000443404" "00441919" "1" "00006" "00006" "2023-11-15 11:07:02" "" "" "PCR" "DNA" "" "" "0000443405" "00441920" "1" "00006" "00006" "2023-11-15 11:10:15" "" "" "PCR" "DNA" "" "" "0000443406" "00441921" "1" "00006" "00006" "2023-11-15 11:57:48" "" "" "PCR" "DNA" "" "" "0000443407" "00441922" "1" "00006" "00006" "2023-11-15 12:00:41" "" "" "PCR" "DNA" "" "" "0000443408" "00441923" "1" "00006" "00006" "2023-11-15 12:03:10" "" "" "PCR" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000003042" "JPH3" "0000003043" "JPH3" "0000003044" "JPH3" "0000019953" "ANKRD11" "0000315105" "JPH3" "0000443396" "JPH3" "0000443397" "JPH3" "0000443398" "JPH3" "0000443399" "JPH3" "0000443400" "JPH3" "0000443401" "JPH3" "0000443402" "JPH3" "0000443403" "JPH3" "0000443404" "JPH3" "0000443405" "JPH3" "0000443406" "JPH3" "0000443407" "JPH3" "0000443408" "JPH3" ## 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 = 71 "{{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}}" "0000021570" "1" "95" "16" "87637862" "87637938" "" "0" "00006" "JPH3_000001" "g.87637862_87637938insN[129]" "" "{PMID:Holmes 2001:11694876}" "" "" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332insN[129]" "" "pathogenic" "" "0000021571" "2" "15" "16" "87637862" "87637938" "" "0" "00006" "JPH3_000000" "g.87637862_87637938=" "" "{PMID:Holmes 2001:11694876}" "" "c.=" "reference allele" "Germline" "no" "" "0" "" "" "g.87604256_87604332=" "" "benign" "" "0000021572" "1" "95" "16" "87637862" "87637938" "" "0" "00006" "JPH3_000002" "g.87637862_87637938insN[123]" "" "{PMID:Holmes 2001:11694876}" "" "CTG55" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332insN[123]" "" "pathogenic" "" "0000021573" "2" "15" "16" "87637862" "87637938" "dup" "0" "00006" "JPH3_000003" "g.87637862_87637938insN[9]" "" "{PMID:Holmes 2001:11694876}" "" "CTG17" "" "Germline" "no" "" "0" "" "" "g.87604256_87604332insN[9]" "" "benign" "" "0000021574" "2" "15" "16" "87637862" "87637938" "" "0" "00006" "JPH3_000000" "g.87637862_87637938=" "" "{PMID:Holmes 2001:11694876}" "" "c.=" "reference allele" "Germline" "no" "" "0" "" "" "g.87604256_87604332=" "" "benign" "" "0000021575" "1" "95" "16" "87637862" "87637938" "" "0" "00006" "JPH3_000004" "g.87637862_87637938insN[126]" "" "{PMID:Holmes 2001:11694876}" "" "CTG56" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332insN[126]" "" "pathogenic" "" "0000079474" "0" "90" "16" "87319450" "88669353" "del" "0" "00006" "BANP_000002" "g.87319450_88669353del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000281653" "0" "10" "16" "87723838" "87723838" "subst" "0.354391" "02325" "JPH3_000024" "g.87723838T>C" "" "" "" "JPH3(NM_020655.4):c.1872T>C (p.H624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87690232T>C" "" "benign" "" "0000281655" "0" "10" "16" "87678144" "87678144" "subst" "0.585727" "02325" "JPH3_000021" "g.87678144T>C" "" "" "" "JPH3(NM_020655.4):c.663T>C (p.S221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87644538T>C" "" "benign" "" "0000281656" "0" "10" "16" "87678441" "87678441" "subst" "0.121382" "02325" "JPH3_000022" "g.87678441C>T" "" "" "" "JPH3(NM_020655.4):c.960C>T (p.R320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87644835C>T" "" "benign" "" "0000285440" "0" "30" "16" "87637927" "87637935" "del" "0" "02326" "JPH3_000007" "g.87637927_87637935del" "" "" "" "JPH3(NM_001271604.2):c.431_439del (p.(Ala148_Ala150del)), JPH3(NM_001271604.2):c.464_472delCTGCTGCTG (p.A155_A157del), JPH3(NM_001271604.3):c.464_4..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87604321_87604329del" "" "likely benign" "" "0000289956" "0" "30" "16" "87678516" "87678516" "subst" "8.16747E-5" "01943" "JPH3_000023" "g.87678516C>T" "" "" "" "JPH3(NM_020655.3):c.1035C>T (p.G345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87644910C>T" "" "likely benign" "" "0000289957" "0" "30" "16" "87677887" "87677887" "subst" "0.00248304" "01943" "JPH3_000018" "g.87677887G>A" "" "" "" "JPH3(NM_020655.3):c.406G>A (p.G136S), JPH3(NM_020655.4):c.406G>A (p.G136S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87644281G>A" "" "likely benign" "" "0000289958" "0" "10" "16" "87637927" "87637935" "del" "0" "01943" "JPH3_000007" "g.87637927_87637935del" "" "" "" "JPH3(NM_001271604.2):c.431_439del (p.(Ala148_Ala150del)), JPH3(NM_001271604.2):c.464_472delCTGCTGCTG (p.A155_A157del), JPH3(NM_001271604.3):c.464_4..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87604321_87604329del" "" "benign" "" "0000289961" "0" "30" "16" "87678051" "87678051" "subst" "0.000116206" "01943" "JPH3_000019" "g.87678051C>T" "" "" "" "JPH3(NM_020655.3):c.570C>T (p.A190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87644445C>T" "" "likely benign" "" "0000324961" "0" "50" "16" "87637930" "87637935" "del" "0" "01804" "JPH3_000005" "g.87637930_87637935del" "" "" "" "JPH3(NM_001271604.2):c.431_436del (p.(Ala147_Ala148del)), JPH3(NM_001271604.2):c.467_472delCTGCTG (p.A156_A157del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87604324_87604329del" "" "VUS" "" "0000324962" "0" "50" "16" "87637930" "87637935" "dup" "0" "01804" "JPH3_000006" "g.87637930_87637935dup" "" "" "" "JPH3(NM_001271604.2):c.431_436dup (p.(Ala145_Ala146dup)), JPH3(NM_001271604.2):c.467_472dupCTGCTG (p.A156_A157dup), JPH3(NM_001271604.4):c.467_472d..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87604324_87604329dup" "" "VUS" "" "0000324963" "0" "50" "16" "87637927" "87637935" "del" "0" "01804" "JPH3_000007" "g.87637927_87637935del" "" "" "" "JPH3(NM_001271604.2):c.431_439del (p.(Ala148_Ala150del)), JPH3(NM_001271604.2):c.464_472delCTGCTGCTG (p.A155_A157del), JPH3(NM_001271604.3):c.464_4..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87604321_87604329del" "" "VUS" "" "0000324964" "0" "50" "16" "87637918" "87637935" "del" "0" "01804" "JPH3_000008" "g.87637918_87637935del" "" "" "" "JPH3(NM_001271604.2):c.431_448del (p.(Ala151_Ala156del)), JPH3(NM_001271604.4):c.455_472delCTGCTGCTGCTGCTGCTG (p.A152_A157del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87604312_87604329del" "" "VUS" "" "0000324967" "0" "30" "16" "87637921" "87637935" "dup" "0" "01804" "JPH3_000013" "g.87637921_87637935dup" "" "" "" "JPH3(NM_001271604.2):c.458_472dupCTGCTGCTGCTGCTG (p.A153_A157dup), JPH3(NM_001271604.4):c.458_472dup (p.(Ala153_Ala157dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87604315_87604329dup" "" "likely benign" "" "0000324970" "0" "50" "16" "87637938" "87637938" "subst" "0.00170908" "01804" "JPH3_000017" "g.87637938A>G" "" "" "" "JPH3(NM_001271604.2):c.475A>G (p.(Arg159Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87604332A>G" "" "VUS" "" "0000324971" "0" "30" "16" "87678107" "87678107" "subst" "0.00127459" "01804" "JPH3_000020" "g.87678107G>C" "" "" "" "JPH3(NM_020655.2):c.626G>C (p.(Ser209Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87644501G>C" "" "likely benign" "" "0000559434" "0" "30" "16" "87637749" "87637749" "subst" "0" "01943" "JPH3_000026" "g.87637749G>A" "" "" "" "JPH3(NM_001271605.1):c.437G>A (p.G146D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87604143G>A" "" "likely benign" "" "0000559439" "0" "30" "16" "87637915" "87637935" "del" "0" "01804" "JPH3_000031" "g.87637915_87637935del" "" "" "" "JPH3(NM_001271604.2):c.431_451del (p.(Ala151_Ala157del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87604309_87604329del" "" "likely benign" "" "0000559440" "0" "30" "16" "87637918" "87637935" "del" "0" "02325" "JPH3_000008" "g.87637918_87637935del" "" "" "" "JPH3(NM_001271604.2):c.431_448del (p.(Ala151_Ala156del)), JPH3(NM_001271604.4):c.455_472delCTGCTGCTGCTGCTGCTG (p.A152_A157del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87604312_87604329del" "" "likely benign" "" "0000559442" "0" "10" "16" "87637930" "87637935" "dup" "0" "02325" "JPH3_000032" "g.87637930_87637935dup" "" "" "" "JPH3(NM_001271604.2):c.431_436dup (p.(Ala145_Ala146dup)), JPH3(NM_001271604.2):c.467_472dupCTGCTG (p.A156_A157dup), JPH3(NM_001271604.4):c.467_472d..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87604324_87604329dup" "" "benign" "" "0000559444" "0" "10" "16" "87637930" "87637935" "dup" "0" "01943" "JPH3_000032" "g.87637930_87637935dup" "" "" "" "JPH3(NM_001271604.2):c.431_436dup (p.(Ala145_Ala146dup)), JPH3(NM_001271604.2):c.467_472dupCTGCTG (p.A156_A157dup), JPH3(NM_001271604.4):c.467_472d..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87604324_87604329dup" "" "benign" "" "0000559447" "0" "10" "16" "87637933" "87637935" "dup" "0" "01943" "JPH3_000034" "g.87637933_87637935dup" "" "" "" "JPH3(NM_001271604.2):c.470_472dupCTG (p.A157dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87604327_87604329dup" "" "benign" "" "0000559448" "0" "30" "16" "87638018" "87638018" "subst" "0.00315121" "01943" "JPH3_000035" "g.87638018C>T" "" "" "" "JPH3(NM_001271604.2):c.555C>T (p.C185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87604412C>T" "" "likely benign" "" "0000559449" "0" "50" "16" "87678073" "87678073" "subst" "8.2462E-6" "01943" "JPH3_000036" "g.87678073C>T" "" "" "" "JPH3(NM_020655.3):c.592C>T (p.L198F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87644467C>T" "" "VUS" "" "0000559451" "0" "50" "16" "87678394" "87678394" "subst" "1.22281E-5" "01943" "JPH3_000038" "g.87678394C>T" "" "" "" "JPH3(NM_020655.3):c.913C>T (p.R305C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87644788C>T" "" "VUS" "" "0000559452" "0" "30" "16" "87723446" "87723446" "subst" "0.000108518" "01943" "JPH3_000039" "g.87723446G>A" "" "" "" "JPH3(NM_020655.3):c.1480G>A (p.A494T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87689840G>A" "" "likely benign" "" "0000559453" "0" "30" "16" "87723869" "87723869" "subst" "0.000323944" "01943" "JPH3_000040" "g.87723869G>A" "" "" "" "JPH3(NM_020655.3):c.1903G>A (p.A635T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87690263G>A" "" "likely benign" "" "0000616184" "0" "50" "16" "87723875" "87723875" "subst" "0" "01943" "JPH3_000042" "g.87723875C>T" "" "" "" "JPH3(NM_020655.3):c.1909C>T (p.R637W, p.(Arg637Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87690269C>T" "" "VUS" "" "0000623553" "0" "30" "16" "87637930" "87637935" "del" "0" "01943" "JPH3_000005" "g.87637930_87637935del" "" "" "" "JPH3(NM_001271604.2):c.431_436del (p.(Ala147_Ala148del)), JPH3(NM_001271604.2):c.467_472delCTGCTG (p.A156_A157del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87604324_87604329del" "" "likely benign" "" "0000623554" "0" "30" "16" "87723502" "87723502" "subst" "0.000537793" "01943" "JPH3_000041" "g.87723502C>T" "" "" "" "JPH3(NM_020655.3):c.1536C>T (p.G512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87689896C>T" "" "likely benign" "" "0000657957" "0" "30" "16" "87677887" "87677887" "subst" "0.00248304" "02326" "JPH3_000018" "g.87677887G>A" "" "" "" "JPH3(NM_020655.3):c.406G>A (p.G136S), JPH3(NM_020655.4):c.406G>A (p.G136S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87644281G>A" "" "likely benign" "" "0000680688" "0" "50" "16" "87637921" "87637935" "dup" "0" "01943" "JPH3_000013" "g.87637921_87637935dup" "" "" "" "JPH3(NM_001271604.2):c.458_472dupCTGCTGCTGCTGCTG (p.A153_A157dup), JPH3(NM_001271604.4):c.458_472dup (p.(Ala153_Ala157dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680689" "0" "50" "16" "87678038" "87678038" "subst" "0.00106247" "01943" "JPH3_000043" "g.87678038C>A" "" "" "" "JPH3(NM_020655.3):c.557C>A (p.A186D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680690" "0" "50" "16" "87678173" "87678173" "subst" "4.91545E-5" "01943" "JPH3_000044" "g.87678173A>G" "" "" "" "JPH3(NM_020655.3):c.692A>G (p.K231R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000697177" "3" "70" "16" "87723706" "87723706" "dup" "0" "02190" "JPH3_000045" "g.87723706dup" "" "{PMID:Bourinaris 2021:33824468}, {DOI:Bourinaris 2021:10.1038/s41431-021-00866-1}" "" "1740dupC" "" "Germline" "?" "" "0" "" "" "g.87690100dup" "" "likely pathogenic" "" "0000807638" "0" "50" "16" "87678005" "87678005" "subst" "0.000169427" "01943" "JPH3_000046" "g.87678005C>T" "" "" "" "JPH3(NM_020655.3):c.524C>T (p.T175M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854670" "0" "30" "16" "87678471" "87678471" "subst" "0.000928672" "01943" "JPH3_000047" "g.87678471C>T" "" "" "" "JPH3(NM_020655.3):c.990C>T (p.D330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000877231" "0" "50" "16" "87678494" "87678494" "subst" "0" "00006" "JPH3_000048" "g.87678494A>T" "" "{PMID:Monroe 2016:26845106}" "" "" "" "De novo" "" "" "0" "" "" "g.87644888A>T" "" "VUS" "" "0000944811" "1" "90" "16" "87637862" "87637938" "ins" "0" "00006" "JPH3_000049" "g.87637862_87637938insN[108]" "" "{PMID:Holmes 2001:11694876}" "" "" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332insN[108]" "" "pathogenic (dominant)" "" "0000944812" "1" "90" "16" "87637862" "87637938" "ins" "0" "00006" "JPH3_000050" "g.87637862_87637938insN[105]" "" "{PMID:Holmes 2001:11694876}" "" "" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332insN[105]" "" "pathogenic (dominant)" "" "0000944813" "1" "90" "16" "87637862" "87637938" "ins" "0" "00006" "JPH3_000055" "g.87637862_87637938insN[90]" "" "{PMID:Holmes 2001:11694876}" "" "" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332insN[90]" "" "pathogenic (dominant)" "" "0000944814" "1" "90" "16" "87637862" "87637938" "ins" "0" "00006" "JPH3_000056" "g.87637862_87637938insN[99]" "" "{PMID:Holmes 2001:11694876}" "" "" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332insN[99]" "" "pathogenic (dominant)" "" "0000944815" "0" "70" "16" "87637862" "87637938" "ins" "0" "00006" "JPH3_000051" "g.87637862_87637938insN[63]" "" "{PMID:Holmes 2001:11694876}" "" "" "" "Germline" "" "" "0" "" "" "g.87604256_87604332insN[63]" "" "likely pathogenic (dominant)" "" "0000944816" "0" "70" "16" "87637862" "87637938" "ins" "0" "00006" "JPH3_000050" "g.87637862_87637938insN[105]" "" "{PMID:Holmes 2001:11694876}" "" "" "" "Germline" "" "" "0" "" "" "g.87604256_87604332insN[105]" "" "pathogenic (dominant)" "" "0000944817" "0" "70" "16" "87637894" "87637935" "repeat" "0" "00006" "JPH3_000052" "g.87637894_87637935CTG[50]" "" "{PMID:Stevanin 2002:11914418}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87604288_87604329CTG[50]" "" "likely pathogenic (dominant)" "" "0000944818" "10" "10" "16" "87637862" "87637938" "del" "0" "00006" "JPH3_000053" "g.87637862_87637938delN[3]" "" "{PMID:Walker 2003:14557581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332delN[3]" "" "benign" "" "0000944819" "20" "90" "16" "87637862" "87637938" "ins" "0" "00006" "JPH3_000054" "g.87637862_87637938insN[111]" "" "{PMID:Walker 2003:14557581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332insN[111]" "" "pathogenic (dominant)" "" "0000944820" "20" "10" "16" "87637862" "87637938" "del" "0" "00006" "JPH3_000000" "g.87637862_87637938=" "" "{PMID:Walker 2003:14557581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332=" "" "benign" "" "0000944821" "11" "90" "16" "87637862" "87637938" "ins" "0" "00006" "JPH3_000057" "g.87637862_87637938insN[132]" "" "{PMID:Walker 2003:14557581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332insN[132]" "" "pathogenic (dominant)" "" "0000944822" "10" "10" "16" "87637862" "87637938" "del" "0" "00006" "JPH3_000058" "g.87637862_87637938insN[3]" "" "{PMID:Walker 2003:14557581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332insN[3]" "" "benign" "" "0000944823" "20" "90" "16" "87637862" "87637938" "ins" "0" "00006" "JPH3_000001" "g.87637862_87637938insN[129]" "" "{PMID:Walker 2003:14557581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332insN[129]" "" "pathogenic (dominant)" "" "0000944824" "1" "10" "16" "87637862" "87637938" "del" "0" "00006" "JPH3_000000" "g.87637862_87637938=" "" "{PMID:Walker 2003:14557581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332=" "" "benign" "" "0000944825" "2" "90" "16" "87637862" "87637938" "ins" "0" "00006" "JPH3_000059" "g.87637862_87637938insN[96]" "" "{PMID:Walker 2003:14557581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332insN[96]" "" "pathogenic (dominant)" "" "0000944826" "1" "10" "16" "87637862" "87637938" "del" "0" "00006" "JPH3_000058" "g.87637862_87637938insN[3]" "" "{PMID:Walker 2003:14557581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332insN[3]" "" "benign" "" "0000944827" "2" "90" "16" "87637862" "87637938" "ins" "0" "00006" "JPH3_000050" "g.87637862_87637938insN[105]" "" "{PMID:Walker 2003:14557581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332insN[105]" "" "pathogenic (dominant)" "" "0000944828" "1" "10" "16" "87637862" "87637938" "del" "0" "00006" "JPH3_000060" "g.87637862_87637938delN[9]" "" "{PMID:Walker 2003:14557581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332delsN[9]" "" "benign" "" "0000944829" "2" "90" "16" "87637862" "87637938" "ins" "0" "00006" "JPH3_000059" "g.87637862_87637938insN[96]" "" "{PMID:Walker 2003:14557581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.87604256_87604332insN[96]" "" "pathogenic (dominant)" "" "0000982137" "0" "30" "16" "87637900" "87637935" "dup" "0" "01804" "JPH3_000061" "g.87637900_87637935dup" "" "" "" "JPH3(NM_001271604.4):c.437_472dup (p.(Ala146_Ala157dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982138" "0" "30" "16" "87637906" "87637935" "dup" "0" "01804" "JPH3_000062" "g.87637906_87637935dup" "" "" "" "JPH3(NM_001271604.4):c.443_472dup (p.(Ala148_Ala157dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982139" "0" "30" "16" "87717806" "87717806" "subst" "2.44041E-5" "01804" "JPH3_000063" "g.87717806G>A" "" "" "" "JPH3(NM_020655.4):c.1219G>A (p.(Glu407Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002649" "0" "50" "16" "87677942" "87677942" "subst" "2.88363E-5" "01804" "JPH3_000064" "g.87677942C>T" "" "" "" "JPH3(NM_020655.3):c.461C>T (p.(Ala154Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002650" "0" "30" "16" "87723875" "87723875" "subst" "0" "01804" "JPH3_000042" "g.87723875C>T" "" "" "" "JPH3(NM_020655.3):c.1909C>T (p.R637W, p.(Arg637Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002651" "0" "30" "16" "87723890" "87723890" "subst" "9.33123E-6" "01804" "JPH3_000065" "g.87723890G>A" "" "" "" "JPH3(NM_020655.3):c.1924G>A (p.(Asp642Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041412" "0" "50" "16" "87637897" "87637935" "dup" "0" "01804" "JPH3_000066" "g.87637897_87637935dup" "" "" "" "JPH3(NM_001271604.4):c.434_472dup (p.(Ala145_Ala157dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041413" "0" "50" "16" "87678575" "87678575" "subst" "0.000103834" "01804" "JPH3_000067" "g.87678575G>A" "" "" "" "JPH3(NM_020655.4):c.1094G>A (p.(Arg365His))" "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 JPH3 ## Count = 71 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000021570" "00010277" "95" "382" "728" "382" "804" "c.382+728_382+804insN[129]" "r.?" "p.?" "1i" "CTG[57]" "0000021571" "00010277" "15" "382" "728" "382" "804" "c.382+728_382+804=" "r.(?)" "p.(=)" "1i" "CTG[14]" "0000021572" "00010277" "95" "382" "728" "382" "804" "c.382+728_382+804insN[123]" "r.?" "p.?" "1i" "CTG[55]" "0000021573" "00010277" "15" "382" "728" "382" "804" "c.382+728_382+804insN[9]" "r.(?)" "p.(?)" "1i" "CTG[17]" "0000021574" "00010277" "15" "382" "728" "382" "804" "c.382+728_382+804=" "r.(?)" "p.(=)" "1i" "CTG[14]" "0000021575" "00010277" "95" "382" "728" "382" "804" "c.382+728_382+804insN[126]" "r.?" "p.?" "1i" "CTG[56]" "0000079474" "00010277" "00" "-317303" "0" "941334" "0" "c.-317303_*939087del" "r.0?" "p.0?" "" "" "0000281653" "00010277" "10" "1872" "0" "1872" "0" "c.1872T>C" "r.(?)" "p.(His624=)" "" "" "0000281655" "00010277" "10" "663" "0" "663" "0" "c.663T>C" "r.(?)" "p.(Ser221=)" "" "" "0000281656" "00010277" "10" "960" "0" "960" "0" "c.960C>T" "r.(?)" "p.(Arg320=)" "" "" "0000285440" "00010277" "30" "382" "793" "382" "801" "c.382+793_382+801del" "r.(=)" "p.(=)" "" "" "0000289956" "00010277" "30" "1035" "0" "1035" "0" "c.1035C>T" "r.(?)" "p.(Gly345=)" "" "" "0000289957" "00010277" "30" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Gly136Ser)" "" "" "0000289958" "00010277" "10" "382" "793" "382" "801" "c.382+793_382+801del" "r.(=)" "p.(=)" "" "" "0000289961" "00010277" "30" "570" "0" "570" "0" "c.570C>T" "r.(?)" "p.(Ala190=)" "" "" "0000324961" "00010277" "50" "382" "796" "382" "801" "c.382+796_382+801del" "r.(=)" "p.(=)" "" "" "0000324962" "00010277" "50" "382" "796" "382" "801" "c.382+796_382+801dup" "r.(=)" "p.(=)" "" "" "0000324963" "00010277" "50" "382" "793" "382" "801" "c.382+793_382+801del" "r.(=)" "p.(=)" "" "" "0000324964" "00010277" "50" "382" "784" "382" "801" "c.382+784_382+801del" "r.(=)" "p.(=)" "" "" "0000324967" "00010277" "30" "382" "787" "382" "801" "c.382+787_382+801dup" "r.(=)" "p.(=)" "" "" "0000324970" "00010277" "50" "382" "804" "382" "804" "c.382+804A>G" "r.(=)" "p.(=)" "" "" "0000324971" "00010277" "30" "626" "0" "626" "0" "c.626G>C" "r.(?)" "p.(Ser209Thr)" "" "" "0000559434" "00010277" "30" "382" "615" "382" "615" "c.382+615G>A" "r.(=)" "p.(=)" "" "" "0000559439" "00010277" "30" "382" "781" "382" "801" "c.382+781_382+801del" "r.(=)" "p.(=)" "" "" "0000559440" "00010277" "30" "382" "784" "382" "801" "c.382+784_382+801del" "r.(=)" "p.(=)" "" "" "0000559442" "00010277" "10" "382" "796" "382" "801" "c.382+796_382+801dup" "r.(=)" "p.(=)" "" "" "0000559444" "00010277" "10" "382" "796" "382" "801" "c.382+796_382+801dup" "r.(=)" "p.(=)" "" "" "0000559447" "00010277" "10" "382" "799" "382" "801" "c.382+799_382+801dup" "r.(=)" "p.(=)" "" "" "0000559448" "00010277" "30" "382" "884" "382" "884" "c.382+884C>T" "r.(=)" "p.(=)" "" "" "0000559449" "00010277" "50" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Leu198Phe)" "" "" "0000559451" "00010277" "50" "913" "0" "913" "0" "c.913C>T" "r.(?)" "p.(Arg305Cys)" "" "" "0000559452" "00010277" "30" "1480" "0" "1480" "0" "c.1480G>A" "r.(?)" "p.(Ala494Thr)" "" "" "0000559453" "00010277" "30" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Ala635Thr)" "" "" "0000616184" "00010277" "50" "1909" "0" "1909" "0" "c.1909C>T" "r.(?)" "p.(Arg637Trp)" "" "" "0000623553" "00010277" "30" "382" "796" "382" "801" "c.382+796_382+801del" "r.(=)" "p.(=)" "" "" "0000623554" "00010277" "30" "1536" "0" "1536" "0" "c.1536C>T" "r.(?)" "p.(Gly512=)" "" "" "0000657957" "00010277" "30" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Gly136Ser)" "" "" "0000680688" "00010277" "50" "382" "787" "382" "801" "c.382+787_382+801dup" "r.(=)" "p.(=)" "" "" "0000680689" "00010277" "50" "557" "0" "557" "0" "c.557C>A" "r.(?)" "p.(Ala186Asp)" "" "" "0000680690" "00010277" "50" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Lys231Arg)" "" "" "0000697177" "00010277" "70" "1740" "0" "1740" "0" "c.1740dup" "r.(?)" "p.(Val581Argfs*137)" "" "" "0000807638" "00010277" "50" "524" "0" "524" "0" "c.524C>T" "r.(?)" "p.(Thr175Met)" "" "" "0000854670" "00010277" "30" "990" "0" "990" "0" "c.990C>T" "r.(?)" "p.(Asp330=)" "" "" "0000877231" "00010277" "50" "1013" "0" "1013" "0" "c.1013A>T" "r.(?)" "p.(Tyr338Phe)" "" "" "0000944811" "00010277" "90" "382" "728" "382" "804" "c.382+728_382+804insN[108]" "r.?" "p.?" "1i" "CTG[50]" "0000944812" "00010277" "90" "382" "728" "382" "804" "c.382+728_382+804insN[105]" "r.?" "p.?" "1i" "CTG[49]" "0000944813" "00010277" "90" "382" "728" "382" "804" "c.382+728_382+804insN[90]" "r.?" "p.?" "1i" "CTG[44]" "0000944814" "00010277" "90" "382" "728" "382" "804" "c.382+728_382+804insN[99]" "r.?" "p.?" "1i" "CTG[47]" "0000944815" "00010277" "70" "382" "728" "382" "804" "c.382+728_382+804insN[63]" "r.?" "p.?" "1i" "CTG[35]" "0000944816" "00010277" "70" "382" "728" "382" "804" "c.382+728_382+804insN[105]" "r.?" "p.?" "1i" "CTG[49]" "0000944817" "00010277" "70" "382" "760" "382" "801" "c.382+760_382+801CTG[50]" "r.?" "p.?" "1i" "CTG[50]" "0000944818" "00010277" "10" "382" "728" "382" "804" "c.382+728_382+804delN[3]" "r.(?)" "p.(=)" "1i" "CTG[13]" "0000944819" "00010277" "90" "382" "728" "382" "804" "c.382+728_382+804insN[111]" "r.?" "p.?" "1i" "CTG[51]" "0000944820" "00010277" "10" "382" "728" "382" "804" "c.382+728_382+804=" "r.(?)" "p.(=)" "1i" "CTG[14]" "0000944821" "00010277" "90" "382" "728" "382" "804" "c.382+728_382+804insN[132]" "r.?" "p.?" "1i" "CTG[58]" "0000944822" "00010277" "10" "382" "728" "382" "804" "c.382+728_382+804insN[3]" "r.(?)" "p.(=)" "1i" "CTG[15]" "0000944823" "00010277" "90" "382" "728" "382" "804" "c.382+728_382+804insN[129]" "r.?" "p.?" "1i" "CTG[57]" "0000944824" "00010277" "10" "382" "728" "382" "804" "c.382+728_382+804=" "r.(?)" "p.(=)" "1i" "CTG[14]" "0000944825" "00010277" "90" "382" "728" "382" "804" "c.382+728_382+804insN[96]" "r.?" "p.?" "1i" "CTG[46]" "0000944826" "00010277" "10" "382" "728" "382" "804" "c.382+728_382+804insN[3]" "r.(?)" "p.(=)" "1i" "CTG[15]" "0000944827" "00010277" "90" "382" "728" "382" "804" "c.382+728_382+804insN[105]" "r.?" "p.?" "1i" "CTG[49]" "0000944828" "00010277" "10" "382" "728" "382" "804" "c.382+728_382+804delN[9]" "r.(?)" "p.(=)" "1i" "CTG[11]" "0000944829" "00010277" "90" "382" "728" "382" "804" "c.382+728_382+804insN[96]" "r.?" "p.?" "1i" "CTG[46]" "0000982137" "00010277" "30" "382" "766" "382" "801" "c.382+766_382+801dup" "r.(=)" "p.(=)" "" "" "0000982138" "00010277" "30" "382" "772" "382" "801" "c.382+772_382+801dup" "r.(=)" "p.(=)" "" "" "0000982139" "00010277" "30" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Glu407Lys)" "" "" "0001002649" "00010277" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Ala154Val)" "" "" "0001002650" "00010277" "30" "1909" "0" "1909" "0" "c.1909C>T" "r.(?)" "p.(Arg637Trp)" "" "" "0001002651" "00010277" "30" "1924" "0" "1924" "0" "c.1924G>A" "r.(?)" "p.(Asp642Asn)" "" "" "0001041412" "00010277" "50" "382" "763" "382" "801" "c.382+763_382+801dup" "r.(=)" "p.(=)" "" "" "0001041413" "00010277" "50" "1094" "0" "1094" "0" "c.1094G>A" "r.(?)" "p.(Arg365His)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{variantid}}" "0000003042" "0000021570" "0000003042" "0000021571" "0000003043" "0000021572" "0000003043" "0000021573" "0000003044" "0000021574" "0000003044" "0000021575" "0000019953" "0000877231" "0000050494" "0000079474" "0000315105" "0000697177" "0000443396" "0000944811" "0000443397" "0000944812" "0000443398" "0000944813" "0000443399" "0000944814" "0000443400" "0000944815" "0000443401" "0000944816" "0000443402" "0000944817" "0000443403" "0000944818" "0000443403" "0000944819" "0000443404" "0000944820" "0000443404" "0000944821" "0000443405" "0000944822" "0000443405" "0000944823" "0000443406" "0000944824" "0000443406" "0000944825" "0000443407" "0000944826" "0000443407" "0000944827" "0000443408" "0000944828" "0000443408" "0000944829"