### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = JPH2) # 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}}" "JPH2" "junctophilin 2" "20" "q12-q13.11" "unknown" "LRG_394" "UD_132464427087" "" "https://www.LOVD.nl/JPH2" "" "1" "14202" "57158" "605267" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/JPH2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-09-19 10:49:39" "00000" "2025-07-08 13:22:38" ## 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}}" "00010276" "JPH2" "transcript variant 1" "001" "NM_020433.4" "" "NP_065166.2" "" "" "" "-873" "3912" "2091" "42816218" "42740337" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "03476" "CMH17" "cardiomyopathy, hypertrophic, familial, type 17 (CMH-17)" "AD" "613873" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "JPH2" "03476" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00016140" "" "" "" "1" "" "00668" "" "" "?" "?" "Netherlands" "" "0" "" "" "white" "" "00128389" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "87" "00128398" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "100" "00128400" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "103" "00128411" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "130" "00128414" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "137" "00239191" "" "" "" "1" "" "00006" "{PMID:Matsushita 2007:17476457}" "2-generation family, 2 affected heterozygous carriers (F, M)" "M" "" "Japan" "" "0" "" "" "" "Family A" "00239192" "" "" "" "1" "" "00006" "{PMID:Matsushita 2007:17476457}" "2-generation family, 4 affected heterozygous carriers (F, 3M)" "F" "no" "Japan" "" "0" "" "" "" "FamBPatI2" "00239193" "" "" "" "4" "" "00006" "{PMID:Matsushita 2007:17476457}" "148 cases CMH, 236 controls" "" "" "Japan" "" "0" "" "" "" "cases CMH/controls" "00239194" "" "" "" "1" "" "00006" "{PMID:Landstrom 2007:17509612}" "family history CMH, 3 first-degree and 1 second-degree affected relatives" "M" "" "United States" "" "0" "" "" "" "Pat1" "00239195" "" "" "" "1" "" "00006" "{PMID:Landstrom 2007:17509612}" "no CMH family histor or sudden cardiac death" "M" "" "United States" "" "0" "" "" "" "Pat2" "00239196" "" "" "" "1" "" "00006" "{PMID:Landstrom 2007:17509612}" "no CMH family history or sudden cardiac death" "F" "" "United States" "" "0" "" "" "" "Pat3" "00292928" "" "" "" "28" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00320310" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "" "" "Australia" "" "0" "" "" "" "WV1" "00446832" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat127" "00453185" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam122Pat140" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00016140" "00351" "00128389" "00198" "00128398" "00198" "00128400" "00198" "00128411" "00198" "00128414" "00198" "00239191" "00351" "00239192" "00351" "00239193" "00000" "00239194" "00351" "00239195" "00351" "00239196" "00351" "00292928" "00198" "00320310" "04172" "00446832" "04173" "00453185" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00351, 03476, 04172, 04173 ## Count = 14 "{{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}}" "0000014925" "00351" "00016140" "00668" "Unknown" "" "originally diagnosed with hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000100605" "00198" "00128389" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100614" "00198" "00128398" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100616" "00198" "00128400" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100629" "00198" "00128411" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100632" "00198" "00128414" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000179409" "00351" "00239191" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMH-17" "hypertrophic cardiomyopathy" "" "0000179410" "00351" "00239192" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMH-17" "hypertrophic cardiomyopathy" "" "0000179411" "00351" "00239194" "00006" "Familial" "40y" "see paper; ..., dyspnea, implantable cardioverter-defibrillator" "" "27y" "" "" "" "" "" "" "CMH-17" "hypertrophic cardiomyopathy" "" "0000179412" "00351" "00239195" "00006" "Unknown" "33y" "see paper; ..., dyspnea, palpitations, angina, non-Q-wave myocardial infarction; pacemaker and implantable cardioverter-defibrillator" "" "24y" "" "" "" "" "" "" "CMH-17" "hypertrophic cardiomyopathy" "" "0000179413" "00351" "00239196" "00006" "Unknown" "58y" "see paper; ..., dyspnea, subacute bacterial endocarditis; surgical myectomy" "" "30y" "" "" "" "" "" "" "CMH-17" "hypertrophic cardiomyopathy" "" "0000242338" "04172" "00320310" "00006" "Unknown" "" "survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000336036" "04173" "00446832" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000341831" "04172" "00453185" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016262" "00016140" "1" "00668" "00006" "2014-03-14 12:29:13" "" "" "SEQ;SEQ-NG" "DNA" "leukocyte" "" "0000129227" "00128389" "1" "02244" "02244" "2017-09-15 15:15:08" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129236" "00128398" "1" "02244" "02244" "2017-09-15 15:38:02" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129238" "00128400" "1" "02244" "02244" "2017-09-15 15:41:40" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129249" "00128411" "1" "02244" "02244" "2017-09-15 16:06:07" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129251" "00128414" "1" "02244" "02244" "2017-09-15 16:09:20" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000240294" "00239191" "1" "00006" "00006" "2019-06-06 15:07:56" "" "" "SEQ" "DNA" "" "" "0000240295" "00239192" "1" "00006" "00006" "2019-06-06 15:14:46" "" "" "SEQ" "DNA" "" "" "0000240296" "00239193" "1" "00006" "00006" "2019-06-06 15:19:06" "" "" "SEQ" "DNA" "" "" "0000240297" "00239194" "1" "00006" "00006" "2019-06-06 15:36:08" "" "" "SEQ" "DNA" "" "" "0000240298" "00239195" "1" "00006" "00006" "2019-06-06 15:41:19" "" "" "SEQ" "DNA" "" "" "0000240299" "00239196" "1" "00006" "00006" "2019-06-06 15:44:30" "" "" "SEQ" "DNA" "" "" "0000294096" "00292928" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000321496" "00320310" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448407" "00446832" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454796" "00453185" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000016262" "DMD" "0000016262" "JPH2" "0000016262" "TNNI3" "0000016262" "TTN" "0000240294" "JPH2" "0000240295" "JPH2" "0000240296" "JPH2" "0000240297" "JPH2" "0000240298" "JPH2" "0000240299" "JPH2" "0000321496" "HFE" "0000321496" "JPH2" "0000321496" "SGCD" ## 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 = 380 "{{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}}" "0000036015" "1" "55" "20" "42788779" "42788779" "subst" "0.00016957" "00668" "JPH2_000001" "g.42788779C>T" "" "Vrijenhoek, submitted" "" "" "" "Unknown" "?" "" "0" "" "" "g.44160139C>T" "" "VUS" "" "0000218360" "0" "50" "20" "42747229" "42747229" "subst" "0.000290225" "02244" "JPH2_000004" "g.42747229C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.44118589C>T" "" "VUS" "" "0000218377" "0" "50" "20" "42788816" "42788816" "subst" "0" "02244" "JPH2_000006" "g.42788816A>C" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.44160176A>C" "" "VUS" "" "0000218379" "0" "50" "20" "42744751" "42744751" "subst" "0" "02244" "JPH2_000002" "g.42744751G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.44116111G>A" "" "VUS" "" "0000218395" "0" "50" "20" "42744916" "42744916" "subst" "0" "02244" "JPH2_000003" "g.42744916G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.44116276G>A" "" "VUS" "" "0000218397" "0" "50" "20" "42788339" "42788339" "subst" "3.67092E-5" "02244" "JPH2_000005" "g.42788339C>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.44159699C>A" "" "VUS" "" "0000247659" "0" "10" "20" "42743454" "42743454" "subst" "0.24721" "02330" "JPH2_000007" "g.42743454A>G" "" "" "" "JPH2(NM_020433.4):c.2073T>C (p.F691=), JPH2(NM_020433.5):c.2073T>C (p.F691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44114814A>G" "" "benign" "" "0000247665" "0" "10" "20" "42806605" "42806605" "subst" "0.000184553" "02330" "JPH2_000068" "g.42806605A>G" "" "" "" "JPH2(NM_175913.4):c.387T>C (p.C129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44177965A>G" "" "benign" "" "0000247671" "0" "50" "20" "42788892" "42788892" "subst" "0" "02330" "JPH2_000062" "g.42788892A>C" "" "" "" "JPH2(NM_020433.5):c.535T>G (p.S179A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160252A>C" "" "VUS" "" "0000247672" "0" "50" "20" "42744535" "42744535" "subst" "5.40763E-6" "02330" "JPH2_000018" "g.42744535A>T" "" "" "" "JPH2(NM_020433.5):c.1780T>A (p.S594T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115895A>T" "" "VUS" "" "0000249579" "0" "30" "20" "42814955" "42814955" "subst" "7.4214E-5" "02325" "JPH2_000072" "g.42814955A>C" "" "" "" "JPH2(NM_020433.5):c.379+12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44186315A>C" "" "likely benign" "" "0000249602" "0" "70" "20" "42788930" "42788930" "subst" "0" "02325" "JPH2_000064" "g.42788930A>G" "" "" "" "JPH2(NM_020433.5):c.497T>C (p.L166P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160290A>G" "" "likely pathogenic" "" "0000249848" "0" "50" "20" "42815354" "42815354" "subst" "0" "02325" "JPH2_000080" "g.42815354A>C" "" "" "" "JPH2(NM_020433.5):c.-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44186714A>C" "" "VUS" "" "0000253368" "0" "10" "20" "42743454" "42743454" "subst" "0.24721" "01943" "JPH2_000007" "g.42743454A>G" "" "" "" "JPH2(NM_020433.4):c.2073T>C (p.F691=), JPH2(NM_020433.5):c.2073T>C (p.F691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44114814A>G" "" "benign" "" "0000278151" "0" "50" "20" "42788358" "42788358" "subst" "0" "02330" "JPH2_000047" "g.42788358G>A" "" "" "" "JPH2(NM_020433.5):c.1069C>T (p.L357F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44159718G>A" "" "VUS" "" "0000278152" "0" "10" "20" "42788248" "42788248" "subst" "6.23697E-5" "02330" "JPH2_000044" "g.42788248G>A" "" "" "" "JPH2(NM_020433.4):c.1169+10C>T, JPH2(NM_020433.5):c.1169+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44159608G>A" "" "benign" "" "0000278153" "0" "10" "20" "42747276" "42747279" "del" "0" "02330" "JPH2_000043" "g.42747276_42747279del" "" "" "" "JPH2(NM_020433.5):c.1170-16_1170-13delCACA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44118636_44118639del" "" "benign" "" "0000278154" "0" "10" "20" "42747254" "42747254" "subst" "0.0688809" "02330" "JPH2_000042" "g.42747254G>A" "" "" "" "JPH2(NM_020433.4):c.1179C>T (p.H393=), JPH2(NM_020433.5):c.1179C>T (p.H393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44118614G>A" "" "benign" "" "0000278155" "0" "10" "20" "42747247" "42747247" "subst" "0.17676" "02330" "JPH2_000041" "g.42747247C>T" "" "" "" "JPH2(NM_020433.4):c.1186G>A (p.A396T), JPH2(NM_020433.5):c.1186G>A (p.A396T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44118607C>T" "" "benign" "" "0000278156" "0" "50" "20" "42747231" "42747231" "subst" "2.04673E-5" "02330" "JPH2_000040" "g.42747231G>A" "" "" "" "JPH2(NM_020433.5):c.1202C>T (p.A401V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44118591G>A" "" "VUS" "" "0000278157" "0" "50" "20" "42747220" "42747220" "subst" "6.94308E-5" "02330" "JPH2_000039" "g.42747220C>T" "" "" "" "JPH2(NM_020433.4):c.1213G>A (p.A405T), JPH2(NM_020433.5):c.1213G>A (p.A405T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44118580C>T" "" "VUS" "" "0000278158" "0" "50" "20" "42747186" "42747186" "subst" "8.14412E-6" "02330" "JPH2_000037" "g.42747186C>T" "" "" "" "JPH2(NM_020433.5):c.1247G>A (p.R416H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44118546C>T" "" "VUS" "" "0000278159" "0" "10" "20" "42745033" "42745033" "subst" "0.0188584" "02330" "JPH2_000035" "g.42745033G>A" "" "" "" "JPH2(NM_020433.4):c.1289-7C>T (p.(=)), JPH2(NM_020433.5):c.1289-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116393G>A" "" "benign" "" "0000278160" "0" "30" "20" "42815218" "42815218" "subst" "0.000150447" "02330" "JPH2_000077" "g.42815218T>C" "" "" "" "JPH2(NM_020433.4):c.128A>G (p.N43S), JPH2(NM_020433.5):c.128A>G (p.N43S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44186578T>C" "" "likely benign" "" "0000278161" "0" "10" "20" "42744935" "42744935" "subst" "0.000290192" "02330" "JPH2_000032" "g.42744935C>T" "" "" "" "JPH2(NM_020433.4):c.1380G>A (p.A460=), JPH2(NM_020433.5):c.1380G>A (p.A460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116295C>T" "" "benign" "" "0000278162" "0" "50" "20" "42744861" "42744861" "subst" "0" "02330" "JPH2_000030" "g.42744861G>A" "" "" "" "JPH2(NM_020433.5):c.1454C>T (p.P485L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116221G>A" "" "VUS" "" "0000278163" "0" "10" "20" "42744818" "42744818" "subst" "0" "02330" "JPH2_000029" "g.42744818G>T" "" "" "" "JPH2(NM_020433.4):c.1497C>A (p.P499=), JPH2(NM_020433.5):c.1497C>A (p.P499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116178G>T" "" "benign" "" "0000278164" "0" "10" "20" "42744802" "42744802" "subst" "0.00911758" "02330" "JPH2_000028" "g.42744802C>T" "" "" "" "JPH2(NM_020433.4):c.1513G>A (p.G505S), JPH2(NM_020433.5):c.1513G>A (p.G505S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116162C>T" "" "benign" "" "0000278165" "0" "50" "20" "42744765" "42744765" "subst" "0" "02330" "JPH2_000027" "g.42744765C>T" "" "" "" "JPH2(NM_020433.5):c.1550G>A (p.S517N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116125C>T" "" "VUS" "" "0000278166" "0" "10" "20" "42815190" "42815190" "subst" "0.845474" "02330" "JPH2_000076" "g.42815190G>A" "" "" "" "JPH2(NM_020433.4):c.156C>T (p.Y52=), JPH2(NM_020433.5):c.156C>T (p.Y52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44186550G>A" "" "benign" "" "0000278167" "0" "50" "20" "42744731" "42744731" "subst" "0" "02330" "JPH2_000024" "g.42744731C>G" "" "" "" "JPH2(NM_020433.5):c.1584G>C (p.E528D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116091C>G" "" "VUS" "" "0000278168" "0" "10" "20" "42744611" "42744611" "subst" "0.000402576" "02330" "JPH2_000023" "g.42744611G>A" "" "" "" "JPH2(NM_020433.5):c.1704C>T (p.S568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115971G>A" "" "benign" "" "0000278169" "0" "50" "20" "42744601" "42744601" "subst" "0" "02330" "JPH2_000022" "g.42744601G>A" "" "" "" "JPH2(NM_020433.5):c.1714C>T (p.R572C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115961G>A" "" "VUS" "" "0000278170" "0" "10" "20" "42744587" "42744587" "subst" "0.169776" "02330" "JPH2_000021" "g.42744587G>C" "" "" "" "JPH2(NM_020433.4):c.1728C>G (p.P576=), JPH2(NM_020433.5):c.1728C>G (p.P576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115947G>C" "" "benign" "" "0000278171" "0" "10" "20" "42744539" "42744539" "subst" "0" "02330" "JPH2_000019" "g.42744539G>A" "" "" "" "JPH2(NM_020433.5):c.1776C>T (p.S592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115899G>A" "" "benign" "" "0000278172" "0" "10" "20" "42744521" "42744521" "subst" "0.00048569" "02330" "JPH2_000017" "g.42744521G>T" "" "" "" "JPH2(NM_020433.4):c.1794C>A (p.=), JPH2(NM_020433.5):c.1794C>A (p.S598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115881G>T" "" "benign" "" "0000278173" "0" "30" "20" "42744463" "42744463" "subst" "0.000220253" "02330" "JPH2_000016" "g.42744463T>C" "" "" "" "JPH2(NM_020433.4):c.1852A>G (p.T618A), JPH2(NM_020433.5):c.1852A>G (p.T618A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115823T>C" "" "likely benign" "" "0000278174" "0" "30" "20" "42744452" "42744452" "subst" "2.5941E-5" "02330" "JPH2_000015" "g.42744452C>T" "" "" "" "JPH2(NM_020433.5):c.1863G>A (p.K621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115812C>T" "" "likely benign" "" "0000278175" "0" "10" "20" "42744344" "42744344" "subst" "0.00125808" "02330" "JPH2_000014" "g.42744344C>T" "" "" "" "JPH2(NM_020433.4):c.1971G>A (p.E657=), JPH2(NM_020433.5):c.1971G>A (p.E657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115704C>T" "" "benign" "" "0000278177" "0" "10" "20" "42744294" "42744294" "subst" "0.000167266" "02330" "JPH2_000010" "g.42744294G>A" "" "" "" "JPH2(NM_020433.5):c.2010+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115654G>A" "" "benign" "" "0000278178" "0" "10" "20" "42815049" "42815049" "subst" "0" "02330" "JPH2_000075" "g.42815049G>A" "" "" "" "JPH2(NM_020433.5):c.297C>T (p.S99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44186409G>A" "" "benign" "" "0000278179" "0" "10" "20" "42814948" "42814948" "subst" "8.27041E-6" "02330" "JPH2_000071" "g.42814948G>A" "" "" "" "JPH2(NM_020433.5):c.379+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44186308G>A" "" "benign" "" "0000278180" "0" "50" "20" "42814966" "42814966" "subst" "0" "02330" "JPH2_000073" "g.42814966C>T" "" "" "" "JPH2(NM_020433.5):c.379+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44186326C>T" "" "VUS" "" "0000278181" "0" "10" "20" "42789053" "42789053" "subst" "0.00281179" "02330" "JPH2_000066" "g.42789053G>A" "" "" "" "JPH2(NM_020433.4):c.380-6C>T, JPH2(NM_020433.5):c.380-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160413G>A" "" "benign" "" "0000278182" "0" "10" "20" "42789056" "42789056" "subst" "0.00438754" "02330" "JPH2_000067" "g.42789056G>C" "" "" "" "JPH2(NM_020433.4):c.380-9C>G, JPH2(NM_020433.5):c.380-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160416G>C" "" "benign" "" "0000278183" "0" "50" "20" "42815308" "42815308" "subst" "0" "02330" "JPH2_000078" "g.42815308G>A" "" "" "" "JPH2(NM_020433.5):c.38C>T (p.A13V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44186668G>A" "" "VUS" "" "0000278184" "0" "10" "20" "42788944" "42788944" "subst" "0.000224536" "02330" "JPH2_000065" "g.42788944C>T" "" "" "" "JPH2(NM_020433.5):c.483G>A (p.T161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160304C>T" "" "benign" "" "0000278185" "0" "10" "20" "42788865" "42788865" "subst" "0.000420063" "02330" "JPH2_000061" "g.42788865G>A" "" "" "" "JPH2(NM_020433.4):c.562C>T (p.P188S), JPH2(NM_020433.5):c.562C>T (p.P188S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160225G>A" "" "benign" "" "0000278186" "0" "50" "20" "42788862" "42788862" "subst" "0.000572001" "02330" "JPH2_000060" "g.42788862C>T" "" "" "" "JPH2(NM_020433.5):c.565G>A (p.A189T, p.(Ala189Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160222C>T" "" "VUS" "" "0000278187" "0" "10" "20" "42788803" "42788803" "subst" "0.00133168" "02330" "JPH2_000059" "g.42788803G>C" "" "" "" "JPH2(NM_020433.4):c.624C>G (p.A208=), JPH2(NM_020433.5):c.624C>G (p.A208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160163G>C" "" "benign" "" "0000278188" "0" "10" "20" "42788790" "42788790" "subst" "0.000378999" "02330" "JPH2_000058" "g.42788790G>A" "" "" "" "JPH2(NM_020433.4):c.637C>T (p.R213W), JPH2(NM_020433.5):c.637C>T (p.R213W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160150G>A" "" "benign" "" "0000278189" "0" "10" "20" "42788785" "42788785" "subst" "0.000326181" "02330" "JPH2_000057" "g.42788785C>T" "" "" "" "JPH2(NM_020433.4):c.642G>A (p.A214=), JPH2(NM_020433.5):c.642G>A (p.A214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160145C>T" "" "benign" "" "0000278190" "0" "10" "20" "42788779" "42788779" "subst" "0.00016957" "02330" "JPH2_000001" "g.42788779C>T" "" "" "" "JPH2(NM_020433.4):c.648G>A (p.K216=), JPH2(NM_020433.5):c.648G>A (p.K216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160139C>T" "" "benign" "" "0000278191" "0" "50" "20" "42788735" "42788735" "subst" "0.000226402" "02330" "JPH2_000055" "g.42788735C>T" "" "" "" "JPH2(NM_020433.5):c.692G>A (p.R231Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160095C>T" "" "VUS" "" "0000278192" "0" "10" "20" "42788617" "42788617" "subst" "4.8677E-6" "02330" "JPH2_000052" "g.42788617G>T" "" "" "" "JPH2(NM_020433.4):c.810C>A (p.A270=), JPH2(NM_020433.5):c.810C>A (p.A270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44159977G>T" "" "benign" "" "0000278193" "0" "10" "20" "42788608" "42788608" "subst" "0.000123981" "02330" "JPH2_000051" "g.42788608G>T" "" "" "" "JPH2(NM_020433.4):c.819C>A (p.A273=), JPH2(NM_020433.5):c.819C>A (p.A273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44159968G>T" "" "benign" "" "0000278194" "0" "30" "20" "42788434" "42788438" "del" "0" "02330" "JPH2_000049" "g.42788434_42788438del" "" "" "" "JPH2(NM_020433.5):c.990_994delGCTGC (p.L331Rfs*67)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44159794_44159798del" "" "likely benign" "" "0000278195" "0" "50" "20" "42788430" "42788430" "subst" "8.23649E-6" "02330" "JPH2_000048" "g.42788430C>T" "" "" "" "JPH2(NM_020433.4):c.997G>A (p.D333N), JPH2(NM_020433.5):c.997G>A (p.D333N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44159790C>T" "" "VUS" "" "0000281630" "0" "30" "20" "42788266" "42788266" "subst" "1.7203E-5" "02325" "JPH2_000045" "g.42788266G>A" "" "" "" "JPH2(NM_020433.5):c.1161C>T (p.A387=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44159626G>A" "" "likely benign" "" "0000281631" "0" "30" "20" "42788248" "42788248" "subst" "6.23697E-5" "02325" "JPH2_000044" "g.42788248G>A" "" "" "" "JPH2(NM_020433.4):c.1169+10C>T, JPH2(NM_020433.5):c.1169+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44159608G>A" "" "likely benign" "" "0000281632" "0" "50" "20" "42747220" "42747220" "subst" "6.94308E-5" "02325" "JPH2_000039" "g.42747220C>T" "" "" "" "JPH2(NM_020433.4):c.1213G>A (p.A405T), JPH2(NM_020433.5):c.1213G>A (p.A405T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44118580C>T" "" "VUS" "" "0000281633" "0" "30" "20" "42744935" "42744935" "subst" "0.000290192" "02325" "JPH2_000032" "g.42744935C>T" "" "" "" "JPH2(NM_020433.4):c.1380G>A (p.A460=), JPH2(NM_020433.5):c.1380G>A (p.A460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116295C>T" "" "likely benign" "" "0000281634" "0" "10" "20" "42744802" "42744802" "subst" "0.00911758" "02325" "JPH2_000028" "g.42744802C>T" "" "" "" "JPH2(NM_020433.4):c.1513G>A (p.G505S), JPH2(NM_020433.5):c.1513G>A (p.G505S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116162C>T" "" "benign" "" "0000281635" "0" "50" "20" "42744764" "42744764" "subst" "0" "02325" "JPH2_000026" "g.42744764G>T" "" "" "" "JPH2(NM_020433.5):c.1551C>A (p.S517R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116124G>T" "" "VUS" "" "0000281636" "0" "30" "20" "42744749" "42744749" "subst" "3.74084E-5" "02325" "JPH2_000025" "g.42744749C>T" "" "" "" "JPH2(NM_020433.5):c.1566G>A (p.R522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116109C>T" "" "likely benign" "" "0000281637" "0" "10" "20" "42815190" "42815190" "subst" "0.845474" "02325" "JPH2_000076" "g.42815190G>A" "" "" "" "JPH2(NM_020433.4):c.156C>T (p.Y52=), JPH2(NM_020433.5):c.156C>T (p.Y52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44186550G>A" "" "benign" "" "0000281638" "0" "50" "20" "42744559" "42744559" "subst" "2.33269E-5" "02325" "JPH2_000020" "g.42744559C>T" "" "" "" "JPH2(NM_020433.5):c.1756G>A (p.E586K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115919C>T" "" "VUS" "" "0000281639" "0" "30" "20" "42744521" "42744521" "subst" "0.00048569" "02325" "JPH2_000017" "g.42744521G>T" "" "" "" "JPH2(NM_020433.4):c.1794C>A (p.=), JPH2(NM_020433.5):c.1794C>A (p.S598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115881G>T" "" "likely benign" "" "0000281640" "0" "30" "20" "42744344" "42744344" "subst" "0.00125808" "02325" "JPH2_000014" "g.42744344C>T" "" "" "" "JPH2(NM_020433.4):c.1971G>A (p.E657=), JPH2(NM_020433.5):c.1971G>A (p.E657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115704C>T" "" "likely benign" "" "0000281642" "0" "30" "20" "42744288" "42744288" "subst" "0" "02325" "JPH2_000009" "g.42744288T>C" "" "" "" "JPH2(NM_020433.5):c.2010+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115648T>C" "" "likely benign" "" "0000281643" "0" "50" "20" "42814996" "42814996" "subst" "0" "02325" "JPH2_000074" "g.42814996C>T" "" "" "" "JPH2(NM_020433.5):c.350G>A (p.G117D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44186356C>T" "" "VUS" "" "0000281644" "0" "30" "20" "42789053" "42789053" "subst" "0.00281179" "02325" "JPH2_000066" "g.42789053G>A" "" "" "" "JPH2(NM_020433.4):c.380-6C>T, JPH2(NM_020433.5):c.380-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160413G>A" "" "likely benign" "" "0000281645" "0" "30" "20" "42789056" "42789056" "subst" "0.00438754" "02325" "JPH2_000067" "g.42789056G>C" "" "" "" "JPH2(NM_020433.4):c.380-9C>G, JPH2(NM_020433.5):c.380-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160416G>C" "" "likely benign" "" "0000281646" "0" "30" "20" "42788803" "42788803" "subst" "0.00133168" "02325" "JPH2_000059" "g.42788803G>C" "" "" "" "JPH2(NM_020433.4):c.624C>G (p.A208=), JPH2(NM_020433.5):c.624C>G (p.A208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160163G>C" "" "likely benign" "" "0000281647" "0" "30" "20" "42788779" "42788779" "subst" "0.00016957" "02325" "JPH2_000001" "g.42788779C>T" "" "" "" "JPH2(NM_020433.4):c.648G>A (p.K216=), JPH2(NM_020433.5):c.648G>A (p.K216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160139C>T" "" "likely benign" "" "0000281648" "0" "50" "20" "42788759" "42788759" "subst" "0" "02325" "JPH2_000056" "g.42788759C>G" "" "" "" "JPH2(NM_020433.5):c.668G>C (p.R223P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160119C>G" "" "VUS" "" "0000281649" "0" "50" "20" "42788704" "42788704" "subst" "0" "02325" "JPH2_000054" "g.42788704G>C" "" "" "" "JPH2(NM_020433.4):c.723C>G (p.S241R), JPH2(NM_020433.5):c.723C>G (p.S241R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160064G>C" "" "VUS" "" "0000281650" "0" "30" "20" "42788617" "42788617" "subst" "4.8677E-6" "02325" "JPH2_000052" "g.42788617G>T" "" "" "" "JPH2(NM_020433.4):c.810C>A (p.A270=), JPH2(NM_020433.5):c.810C>A (p.A270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44159977G>T" "" "likely benign" "" "0000281651" "0" "30" "20" "42788536" "42788536" "subst" "0" "02325" "JPH2_000050" "g.42788536G>A" "" "" "" "JPH2(NM_020433.5):c.891C>T (p.N297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44159896G>A" "" "likely benign" "" "0000281652" "0" "50" "20" "42815338" "42815338" "subst" "3.0517E-5" "02325" "JPH2_000079" "g.42815338C>T" "" "" "" "JPH2(NM_020433.5):c.8G>A (p.G3E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44186698C>T" "" "VUS" "" "0000285429" "0" "50" "20" "42788273" "42788273" "subst" "8.49466E-6" "02326" "JPH2_000046" "g.42788273T>C" "" "" "" "JPH2(NM_020433.4):c.1154A>G (p.E385G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44159633T>C" "" "VUS" "" "0000285430" "0" "30" "20" "42788248" "42788248" "subst" "6.23697E-5" "02326" "JPH2_000044" "g.42788248G>A" "" "" "" "JPH2(NM_020433.4):c.1169+10C>T, JPH2(NM_020433.5):c.1169+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44159608G>A" "" "likely benign" "" "0000285431" "0" "50" "20" "42747220" "42747220" "subst" "6.94308E-5" "02326" "JPH2_000039" "g.42747220C>T" "" "" "" "JPH2(NM_020433.4):c.1213G>A (p.A405T), JPH2(NM_020433.5):c.1213G>A (p.A405T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44118580C>T" "" "VUS" "" "0000285432" "0" "10" "20" "42745033" "42745033" "subst" "0.0188584" "02326" "JPH2_000035" "g.42745033G>A" "" "" "" "JPH2(NM_020433.4):c.1289-7C>T (p.(=)), JPH2(NM_020433.5):c.1289-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116393G>A" "" "benign" "" "0000285433" "0" "10" "20" "42744802" "42744802" "subst" "0.00911758" "02326" "JPH2_000028" "g.42744802C>T" "" "" "" "JPH2(NM_020433.4):c.1513G>A (p.G505S), JPH2(NM_020433.5):c.1513G>A (p.G505S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116162C>T" "" "benign" "" "0000285434" "0" "10" "20" "42744587" "42744587" "subst" "0.169776" "02326" "JPH2_000021" "g.42744587G>C" "" "" "" "JPH2(NM_020433.4):c.1728C>G (p.P576=), JPH2(NM_020433.5):c.1728C>G (p.P576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115947G>C" "" "benign" "" "0000285435" "0" "10" "20" "42744344" "42744344" "subst" "0.00125808" "02326" "JPH2_000014" "g.42744344C>T" "" "" "" "JPH2(NM_020433.4):c.1971G>A (p.E657=), JPH2(NM_020433.5):c.1971G>A (p.E657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115704C>T" "" "benign" "" "0000285436" "0" "10" "20" "42743567" "42743567" "subst" "0" "02326" "JPH2_000008" "g.42743567C>A" "" "" "" "JPH2(NM_020433.4):c.2011-51G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44114927C>A" "" "benign" "" "0000285437" "0" "10" "20" "42789053" "42789053" "subst" "0.00281179" "02326" "JPH2_000066" "g.42789053G>A" "" "" "" "JPH2(NM_020433.4):c.380-6C>T, JPH2(NM_020433.5):c.380-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160413G>A" "" "benign" "" "0000285438" "0" "10" "20" "42788803" "42788803" "subst" "0.00133168" "02326" "JPH2_000059" "g.42788803G>C" "" "" "" "JPH2(NM_020433.4):c.624C>G (p.A208=), JPH2(NM_020433.5):c.624C>G (p.A208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160163G>C" "" "benign" "" "0000285439" "0" "30" "20" "42788779" "42788779" "subst" "0.00016957" "02326" "JPH2_000001" "g.42788779C>T" "" "" "" "JPH2(NM_020433.4):c.648G>A (p.K216=), JPH2(NM_020433.5):c.648G>A (p.K216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160139C>T" "" "likely benign" "" "0000289931" "0" "30" "20" "42788248" "42788248" "subst" "6.23697E-5" "01943" "JPH2_000044" "g.42788248G>A" "" "" "" "JPH2(NM_020433.4):c.1169+10C>T, JPH2(NM_020433.5):c.1169+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44159608G>A" "" "likely benign" "" "0000289932" "0" "10" "20" "42747254" "42747254" "subst" "0.0688809" "01943" "JPH2_000042" "g.42747254G>A" "" "" "" "JPH2(NM_020433.4):c.1179C>T (p.H393=), JPH2(NM_020433.5):c.1179C>T (p.H393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44118614G>A" "" "benign" "" "0000289933" "0" "10" "20" "42747247" "42747247" "subst" "0.17676" "01943" "JPH2_000041" "g.42747247C>T" "" "" "" "JPH2(NM_020433.4):c.1186G>A (p.A396T), JPH2(NM_020433.5):c.1186G>A (p.A396T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44118607C>T" "" "benign" "" "0000289934" "0" "50" "20" "42747190" "42747190" "subst" "0" "01943" "JPH2_000038" "g.42747190C>A" "" "" "" "JPH2(NM_020433.4):c.1243G>T (p.A415S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44118550C>A" "" "VUS" "" "0000289935" "0" "10" "20" "42745033" "42745033" "subst" "0.0188584" "01943" "JPH2_000035" "g.42745033G>A" "" "" "" "JPH2(NM_020433.4):c.1289-7C>T (p.(=)), JPH2(NM_020433.5):c.1289-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116393G>A" "" "benign" "" "0000289936" "0" "30" "20" "42745035" "42745035" "subst" "0" "01943" "JPH2_000036" "g.42745035G>A" "" "" "" "JPH2(NM_020433.4):c.1289-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116395G>A" "" "likely benign" "" "0000289937" "0" "50" "20" "42815218" "42815218" "subst" "0.000150447" "01943" "JPH2_000077" "g.42815218T>C" "" "" "" "JPH2(NM_020433.4):c.128A>G (p.N43S), JPH2(NM_020433.5):c.128A>G (p.N43S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44186578T>C" "" "VUS" "" "0000289938" "0" "50" "20" "42745024" "42745024" "subst" "0" "01943" "JPH2_000034" "g.42745024G>T" "" "" "" "JPH2(NM_020433.4):c.1291C>A (p.P431T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116384G>T" "" "VUS" "" "0000289939" "0" "30" "20" "42745022" "42745022" "subst" "0" "01943" "JPH2_000033" "g.42745022C>T" "" "" "" "JPH2(NM_020433.4):c.1293G>A (p.P431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116382C>T" "" "likely benign" "" "0000289940" "0" "30" "20" "42744935" "42744935" "subst" "0.000290192" "01943" "JPH2_000032" "g.42744935C>T" "" "" "" "JPH2(NM_020433.4):c.1380G>A (p.A460=), JPH2(NM_020433.5):c.1380G>A (p.A460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116295C>T" "" "likely benign" "" "0000289941" "0" "10" "20" "42744891" "42744891" "subst" "0.000221604" "01943" "JPH2_000031" "g.42744891C>T" "" "" "" "JPH2(NM_020433.4):c.1424G>A (p.R475H), JPH2(NM_020433.5):c.1424G>A (p.R475H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116251C>T" "" "benign" "" "0000289942" "0" "30" "20" "42744818" "42744818" "subst" "0" "01943" "JPH2_000029" "g.42744818G>T" "" "" "" "JPH2(NM_020433.4):c.1497C>A (p.P499=), JPH2(NM_020433.5):c.1497C>A (p.P499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116178G>T" "" "likely benign" "" "0000289943" "0" "10" "20" "42744802" "42744802" "subst" "0.00911758" "01943" "JPH2_000028" "g.42744802C>T" "" "" "" "JPH2(NM_020433.4):c.1513G>A (p.G505S), JPH2(NM_020433.5):c.1513G>A (p.G505S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44116162C>T" "" "benign" "" "0000289944" "0" "10" "20" "42815190" "42815190" "subst" "0.845474" "01943" "JPH2_000076" "g.42815190G>A" "" "" "" "JPH2(NM_020433.4):c.156C>T (p.Y52=), JPH2(NM_020433.5):c.156C>T (p.Y52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44186550G>A" "" "benign" "" "0000289945" "0" "10" "20" "42744587" "42744587" "subst" "0.169776" "01943" "JPH2_000021" "g.42744587G>C" "" "" "" "JPH2(NM_020433.4):c.1728C>G (p.P576=), JPH2(NM_020433.5):c.1728C>G (p.P576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115947G>C" "" "benign" "" "0000289946" "0" "30" "20" "42744344" "42744344" "subst" "0.00125808" "01943" "JPH2_000014" "g.42744344C>T" "" "" "" "JPH2(NM_020433.4):c.1971G>A (p.E657=), JPH2(NM_020433.5):c.1971G>A (p.E657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115704C>T" "" "likely benign" "" "0000289947" "0" "30" "20" "42744341" "42744341" "subst" "2.49275E-5" "01943" "JPH2_000013" "g.42744341G>A" "" "" "" "JPH2(NM_020433.4):c.1974C>T (p.A658=), JPH2(NM_020433.5):c.1974C>T (p.A658=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44115701G>A" "" "likely benign" "" "0000289948" "0" "30" "20" "42814947" "42814947" "subst" "0.000169639" "01943" "JPH2_000070" "g.42814947G>A" "" "" "" "JPH2(NM_020433.4):c.379+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44186307G>A" "" "likely benign" "" "0000289949" "0" "10" "20" "42789053" "42789053" "subst" "0.00281179" "01943" "JPH2_000066" "g.42789053G>A" "" "" "" "JPH2(NM_020433.4):c.380-6C>T, JPH2(NM_020433.5):c.380-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160413G>A" "" "benign" "" "0000289951" "0" "30" "20" "42788896" "42788896" "subst" "0" "01943" "JPH2_000063" "g.42788896C>T" "" "" "" "JPH2(NM_020433.4):c.531G>A (p.P177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160256C>T" "" "likely benign" "" "0000289952" "0" "30" "20" "42788865" "42788865" "subst" "0.000420063" "01943" "JPH2_000061" "g.42788865G>A" "" "" "" "JPH2(NM_020433.4):c.562C>T (p.P188S), JPH2(NM_020433.5):c.562C>T (p.P188S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160225G>A" "" "likely benign" "" "0000289953" "0" "30" "20" "42788803" "42788803" "subst" "0.00133168" "01943" "JPH2_000059" "g.42788803G>C" "" "" "" "JPH2(NM_020433.4):c.624C>G (p.A208=), JPH2(NM_020433.5):c.624C>G (p.A208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160163G>C" "" "likely benign" "" "0000289954" "0" "30" "20" "42788779" "42788779" "subst" "0.00016957" "01943" "JPH2_000001" "g.42788779C>T" "" "" "" "JPH2(NM_020433.4):c.648G>A (p.K216=), JPH2(NM_020433.5):c.648G>A (p.K216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160139C>T" "" "likely benign" "" "0000289955" "0" "10" "20" "42788644" "42788644" "subst" "5.35699E-5" "01943" "JPH2_000053" "g.42788644C>G" "" "" "" "JPH2(NM_020433.4):c.783G>C (p.A261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44160004C>G" "" "benign" "" "0000484330" "21" "95" "20" "42744802" "42744802" "subst" "0.00911758" "00006" "JPH2_000028" "g.42744802C>T" "" "{PMID:Matsushita 2007:17476457}" "" "" "" "Germline" "" "" "0" "" "" "g.44116162C>T" "" "pathogenic (dominant)" "" "0000484331" "10" "95" "20" "42744802" "42744802" "subst" "0.00911758" "00006" "JPH2_000028" "g.42744802C>T" "" "{PMID:Matsushita 2007:17476457}" "" "" "" "Germline" "" "" "0" "" "" "g.44116162C>T" "" "pathogenic (dominant)" "" "0000484332" "0" "30" "20" "42745009" "42745009" "subst" "2.99859E-5" "00006" "JPH2_000081" "g.42745009G>A" "4/768 chromosomes" "{PMID:Matsushita 2007:17476457}" "" "C1306T (R436C)" "2/296 CMH alleles, 2/472 control alleles" "Germline" "" "" "0" "" "" "g.44116369G>A" "" "likely benign" "" "0000484335" "1" "90" "20" "42815045" "42815045" "subst" "0" "00006" "JPH2_000082" "g.42815045T>G" "" "{PMID:Landstrom 2007:17509612}" "" "S101R" "" "Germline" "" "" "0" "" "" "g.44186405T>G" "" "pathogenic (dominant)" "" "0000484336" "0" "90" "20" "42789006" "42789006" "subst" "0" "00006" "JPH2_000083" "g.42789006A>G" "" "{PMID:Landstrom 2007:17509612}" "" "Y141H" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.44160366A>G" "" "pathogenic (dominant)" "" "0000484337" "0" "90" "20" "42788933" "42788933" "subst" "0" "00006" "JPH2_000084" "g.42788933G>A" "" "{PMID:Landstrom 2007:17509612}" "" "S165F" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.44160293G>A" "" "pathogenic (dominant)" "" "0000569599" "0" "30" "20" "42740397" "42740397" "subst" "0" "02327" "JPH2_000085" "g.42740397C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44111757C>G" "" "likely benign" "" "0000569600" "0" "30" "20" "42741061" "42741061" "subst" "0" "02327" "JPH2_000086" "g.42741061A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44112421A>G" "" "likely benign" "" "0000569601" "0" "30" "20" "42741153" "42741153" "subst" "0" "02327" "JPH2_000087" "g.42741153G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44112513G>A" "" "likely benign" "" "0000569602" "0" "30" "20" "42741488" "42741488" "subst" "0" "02327" "JPH2_000088" "g.42741488G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44112848G>A" "" "likely benign" "" "0000569603" "0" "10" "20" "42744265" "42744265" "subst" "0.0701062" "02327" "JPH2_000089" "g.42744265G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115625G>C" "" "benign" "" "0000569605" "0" "10" "20" "42744318" "42744318" "subst" "0" "02327" "JPH2_000091" "g.42744318A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115678A>C" "" "benign" "" "0000569606" "0" "50" "20" "42744318" "42744323" "dup" "0" "02325" "JPH2_000092" "g.42744318_42744323dup" "" "" "" "JPH2(NM_020433.5):c.1991delCinsCGGAGGT (p.V668_E669dup), JPH2(NM_020433.5):c.1995_2000dupGGTGGA (p.V668_E669dup), JPH2(NM_020433.5):c.2001_2006dupG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115678_44115683dup" "" "VUS" "" "0000569607" "0" "50" "20" "42744318" "42744323" "dup" "0" "02330" "JPH2_000092" "g.42744318_42744323dup" "" "" "" "JPH2(NM_020433.5):c.1991delCinsCGGAGGT (p.V668_E669dup), JPH2(NM_020433.5):c.1995_2000dupGGTGGA (p.V668_E669dup), JPH2(NM_020433.5):c.2001_2006dupG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115678_44115683dup" "" "VUS" "" "0000569608" "0" "30" "20" "42744333" "42744333" "subst" "0" "02327" "JPH2_000093" "g.42744333G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115693G>A" "" "likely benign" "" "0000569609" "0" "30" "20" "42744341" "42744341" "subst" "2.49275E-5" "02327" "JPH2_000013" "g.42744341G>A" "" "" "" "JPH2(NM_020433.4):c.1974C>T (p.A658=), JPH2(NM_020433.5):c.1974C>T (p.A658=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115701G>A" "" "likely benign" "" "0000569610" "0" "10" "20" "42744344" "42744344" "subst" "0.00125808" "02327" "JPH2_000014" "g.42744344C>T" "" "" "" "JPH2(NM_020433.4):c.1971G>A (p.E657=), JPH2(NM_020433.5):c.1971G>A (p.E657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115704C>T" "" "benign" "" "0000569611" "0" "10" "20" "42744392" "42744392" "subst" "0" "02327" "JPH2_000094" "g.42744392C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115752C>A" "" "benign" "" "0000569612" "0" "10" "20" "42744395" "42744395" "subst" "0" "02327" "JPH2_000095" "g.42744395A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115755A>G" "" "benign" "" "0000569613" "0" "10" "20" "42744397" "42744397" "subst" "0" "02327" "JPH2_000096" "g.42744397T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115757T>G" "" "benign" "" "0000569614" "0" "10" "20" "42744400" "42744401" "del" "0" "02327" "JPH2_000097" "g.42744400_42744401del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115760_44115761del" "" "benign" "" "0000569615" "0" "30" "20" "42744403" "42744403" "subst" "4.16445E-6" "01943" "JPH2_000098" "g.42744403G>C" "" "" "" "JPH2(NM_020433.4):c.1912C>G (p.R638G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115763G>C" "" "likely benign" "" "0000569616" "0" "50" "20" "42744454" "42744454" "subst" "2.16816E-5" "02330" "JPH2_000099" "g.42744454T>C" "" "" "" "JPH2(NM_020433.5):c.1861A>G (p.K621E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115814T>C" "" "VUS" "" "0000569617" "0" "30" "20" "42744463" "42744463" "subst" "0.000220253" "02327" "JPH2_000016" "g.42744463T>C" "" "" "" "JPH2(NM_020433.4):c.1852A>G (p.T618A), JPH2(NM_020433.5):c.1852A>G (p.T618A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115823T>C" "" "likely benign" "" "0000569618" "0" "30" "20" "42744485" "42744485" "subst" "0" "02327" "JPH2_000100" "g.42744485T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115845T>G" "" "likely benign" "" "0000569619" "0" "50" "20" "42744514" "42744514" "subst" "0" "02327" "JPH2_000101" "g.42744514T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115874T>G" "" "VUS" "" "0000569620" "0" "30" "20" "42744521" "42744521" "subst" "0.00048569" "02327" "JPH2_000017" "g.42744521G>T" "" "" "" "JPH2(NM_020433.4):c.1794C>A (p.=), JPH2(NM_020433.5):c.1794C>A (p.S598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115881G>T" "" "likely benign" "" "0000569621" "0" "30" "20" "42744530" "42744530" "subst" "0" "02327" "JPH2_000102" "g.42744530C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115890C>A" "" "likely benign" "" "0000569622" "0" "10" "20" "42744548" "42744548" "subst" "5.57849E-6" "02327" "JPH2_000103" "g.42744548G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115908G>A" "" "benign" "" "0000569623" "0" "30" "20" "42744559" "42744559" "subst" "2.33269E-5" "02327" "JPH2_000020" "g.42744559C>T" "" "" "" "JPH2(NM_020433.5):c.1756G>A (p.E586K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115919C>T" "" "likely benign" "" "0000569624" "0" "30" "20" "42744586" "42744586" "subst" "6.51304E-5" "02327" "JPH2_000104" "g.42744586C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115946C>T" "" "likely benign" "" "0000569625" "0" "10" "20" "42744587" "42744587" "subst" "0.169776" "02327" "JPH2_000021" "g.42744587G>C" "" "" "" "JPH2(NM_020433.4):c.1728C>G (p.P576=), JPH2(NM_020433.5):c.1728C>G (p.P576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115947G>C" "" "benign" "" "0000569626" "0" "50" "20" "42744601" "42744601" "subst" "0" "02327" "JPH2_000022" "g.42744601G>A" "" "" "" "JPH2(NM_020433.5):c.1714C>T (p.R572C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115961G>A" "" "VUS" "" "0000569627" "0" "50" "20" "42744691" "42744691" "subst" "1.2133E-5" "02330" "JPH2_000105" "g.42744691G>A" "" "" "" "JPH2(NM_020433.5):c.1624C>T (p.R542C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116051G>A" "" "VUS" "" "0000569628" "0" "10" "20" "42744695" "42744695" "subst" "0" "02330" "JPH2_000106" "g.42744695G>A" "" "" "" "JPH2(NM_020433.5):c.1620C>T (p.T540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116055G>A" "" "benign" "" "0000569629" "0" "50" "20" "42744745" "42744745" "subst" "0" "02330" "JPH2_000107" "g.42744745C>T" "" "" "" "JPH2(NM_020433.5):c.1570G>A (p.V524I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116105C>T" "" "VUS" "" "0000569630" "0" "50" "20" "42744751" "42744751" "subst" "0" "02327" "JPH2_000002" "g.42744751G>A" "" "" "" "JPH2(NM_020433.4):c.1564C>T (p.R522W), JPH2(NM_020433.5):c.1564C>T (p.R522W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116111G>A" "" "VUS" "" "0000569631" "0" "50" "20" "42744751" "42744751" "subst" "0" "02325" "JPH2_000002" "g.42744751G>A" "" "" "" "JPH2(NM_020433.4):c.1564C>T (p.R522W), JPH2(NM_020433.5):c.1564C>T (p.R522W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116111G>A" "" "VUS" "" "0000569632" "0" "30" "20" "42744765" "42744765" "subst" "0" "02327" "JPH2_000027" "g.42744765C>T" "" "" "" "JPH2(NM_020433.5):c.1550G>A (p.S517N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116125C>T" "" "likely benign" "" "0000569633" "0" "30" "20" "42744776" "42744776" "subst" "0" "02327" "JPH2_000108" "g.42744776G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116136G>A" "" "likely benign" "" "0000569634" "0" "30" "20" "42744818" "42744818" "subst" "0" "02327" "JPH2_000029" "g.42744818G>T" "" "" "" "JPH2(NM_020433.4):c.1497C>A (p.P499=), JPH2(NM_020433.5):c.1497C>A (p.P499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116178G>T" "" "likely benign" "" "0000569635" "0" "30" "20" "42744877" "42744877" "subst" "0" "02327" "JPH2_000109" "g.42744877G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116237G>C" "" "likely benign" "" "0000569636" "0" "30" "20" "42744882" "42744882" "subst" "0" "01943" "JPH2_000110" "g.42744882G>A" "" "" "" "JPH2(NM_020433.4):c.1433C>T (p.P478L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116242G>A" "" "likely benign" "" "0000569637" "0" "10" "20" "42744891" "42744891" "subst" "0.000221604" "02330" "JPH2_000031" "g.42744891C>T" "" "" "" "JPH2(NM_020433.4):c.1424G>A (p.R475H), JPH2(NM_020433.5):c.1424G>A (p.R475H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116251C>T" "" "benign" "" "0000569638" "0" "30" "20" "42744895" "42744895" "subst" "3.81745E-5" "02327" "JPH2_000111" "g.42744895C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116255C>T" "" "likely benign" "" "0000569639" "0" "30" "20" "42744920" "42744920" "subst" "0" "02327" "JPH2_000112" "g.42744920C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116280C>T" "" "likely benign" "" "0000569640" "0" "10" "20" "42744935" "42744935" "subst" "0.000290192" "02326" "JPH2_000032" "g.42744935C>T" "" "" "" "JPH2(NM_020433.4):c.1380G>A (p.A460=), JPH2(NM_020433.5):c.1380G>A (p.A460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116295C>T" "" "benign" "" "0000569641" "0" "30" "20" "42744991" "42744991" "subst" "0" "02326" "JPH2_000113" "g.42744991T>C" "" "" "" "JPH2(NM_020433.4):c.1324A>G (p.I442V), JPH2(NM_020433.5):c.1324A>G (p.I442V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116351T>C" "" "likely benign" "" "0000569642" "0" "30" "20" "42744998" "42744998" "subst" "0" "02327" "JPH2_000114" "g.42744998C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116358C>A" "" "likely benign" "" "0000569643" "0" "30" "20" "42745022" "42745022" "subst" "0" "02326" "JPH2_000033" "g.42745022C>T" "" "" "" "JPH2(NM_020433.4):c.1293G>A (p.P431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116382C>T" "" "likely benign" "" "0000569644" "0" "30" "20" "42745033" "42745033" "subst" "0.0188584" "01804" "JPH2_000035" "g.42745033G>A" "" "" "" "JPH2(NM_020433.4):c.1289-7C>T (p.(=)), JPH2(NM_020433.5):c.1289-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116393G>A" "" "likely benign" "" "0000569645" "0" "10" "20" "42745033" "42745033" "subst" "0.0188584" "02327" "JPH2_000035" "g.42745033G>A" "" "" "" "JPH2(NM_020433.4):c.1289-7C>T (p.(=)), JPH2(NM_020433.5):c.1289-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116393G>A" "" "benign" "" "0000569646" "0" "30" "20" "42745035" "42745035" "subst" "0" "02327" "JPH2_000036" "g.42745035G>A" "" "" "" "JPH2(NM_020433.4):c.1289-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116395G>A" "" "likely benign" "" "0000569647" "0" "30" "20" "42745062" "42745062" "subst" "0.00222178" "02327" "JPH2_000115" "g.42745062C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116422C>G" "" "likely benign" "" "0000569648" "0" "50" "20" "42747186" "42747186" "subst" "8.14412E-6" "02327" "JPH2_000037" "g.42747186C>T" "" "" "" "JPH2(NM_020433.5):c.1247G>A (p.R416H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44118546C>T" "" "VUS" "" "0000569649" "0" "50" "20" "42747204" "42747204" "del" "0" "02326" "JPH2_000116" "g.42747204del" "" "" "" "JPH2(NM_020433.4):c.1229delA (p.Q410Rfs*98)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44118564del" "" "VUS" "" "0000569650" "0" "50" "20" "42747220" "42747220" "subst" "4.08417E-6" "02330" "JPH2_000117" "g.42747220C>A" "" "" "" "JPH2(NM_020433.4):c.1213G>T (p.A405S), JPH2(NM_020433.5):c.1213G>T (p.A405S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44118580C>A" "" "VUS" "" "0000569651" "0" "70" "20" "42747220" "42747220" "subst" "4.08417E-6" "02326" "JPH2_000117" "g.42747220C>A" "" "" "" "JPH2(NM_020433.4):c.1213G>T (p.A405S), JPH2(NM_020433.5):c.1213G>T (p.A405S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44118580C>A" "" "likely pathogenic" "" "0000569652" "0" "50" "20" "42747220" "42747220" "subst" "6.94308E-5" "01943" "JPH2_000039" "g.42747220C>T" "" "" "" "JPH2(NM_020433.4):c.1213G>A (p.A405T), JPH2(NM_020433.5):c.1213G>A (p.A405T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44118580C>T" "" "VUS" "" "0000569653" "0" "30" "20" "42747229" "42747229" "subst" "0.000290225" "02330" "JPH2_000004" "g.42747229C>T" "" "" "" "JPH2(NM_020433.4):c.1204G>A (p.E402K), JPH2(NM_020433.5):c.1204G>A (p.E402K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44118589C>T" "" "likely benign" "" "0000569654" "0" "50" "20" "42747229" "42747229" "subst" "0.000290225" "01943" "JPH2_000004" "g.42747229C>T" "" "" "" "JPH2(NM_020433.4):c.1204G>A (p.E402K), JPH2(NM_020433.5):c.1204G>A (p.E402K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44118589C>T" "" "VUS" "" "0000569655" "0" "30" "20" "42747229" "42747229" "subst" "0.000290225" "02326" "JPH2_000004" "g.42747229C>T" "" "" "" "JPH2(NM_020433.4):c.1204G>A (p.E402K), JPH2(NM_020433.5):c.1204G>A (p.E402K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44118589C>T" "" "likely benign" "" "0000569656" "0" "50" "20" "42747253" "42747253" "subst" "0" "02330" "JPH2_000118" "g.42747253C>T" "" "" "" "JPH2(NM_020433.5):c.1180G>A (p.A394T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44118613C>T" "" "VUS" "" "0000569657" "0" "10" "20" "42747274" "42747274" "subst" "2.49636E-5" "02330" "JPH2_000119" "g.42747274A>G" "" "" "" "JPH2(NM_020433.4):c.1170-11T>C, JPH2(NM_020433.5):c.1170-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44118634A>G" "" "benign" "" "0000569658" "0" "30" "20" "42747274" "42747274" "subst" "2.49636E-5" "02327" "JPH2_000119" "g.42747274A>G" "" "" "" "JPH2(NM_020433.4):c.1170-11T>C, JPH2(NM_020433.5):c.1170-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44118634A>G" "" "likely benign" "" "0000569660" "0" "30" "20" "42788290" "42788290" "subst" "0.000786484" "02326" "JPH2_000121" "g.42788290G>T" "" "" "" "JPH2(NM_020433.4):c.1137C>A (p.I379=), JPH2(NM_020433.5):c.1137C>A (p.I379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159650G>T" "" "likely benign" "" "0000569661" "0" "30" "20" "42788305" "42788305" "subst" "0" "01943" "JPH2_000122" "g.42788305C>T" "" "" "" "JPH2(NM_020433.4):c.1122G>A (p.Q374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159665C>T" "" "likely benign" "" "0000569662" "0" "10" "20" "42788320" "42788320" "subst" "8.17835E-5" "02330" "JPH2_000123" "g.42788320A>G" "" "" "" "JPH2(NM_020433.5):c.1107T>C (p.S369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159680A>G" "" "benign" "" "0000569663" "0" "50" "20" "42788373" "42788373" "subst" "0" "02330" "JPH2_000124" "g.42788373G>A" "" "" "" "JPH2(NM_020433.5):c.1054C>T (p.R352C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159733G>A" "" "VUS" "" "0000569665" "0" "30" "20" "42788485" "42788485" "subst" "0" "02327" "JPH2_000126" "g.42788485G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159845G>A" "" "likely benign" "" "0000569667" "0" "10" "20" "42788571" "42788571" "subst" "0.000987596" "02330" "JPH2_000128" "g.42788571T>C" "" "" "" "JPH2(NM_020433.4):c.856A>G (p.T286A), JPH2(NM_020433.5):c.856A>G (p.T286A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159931T>C" "" "benign" "" "0000569668" "0" "50" "20" "42788571" "42788571" "subst" "0.000987596" "01943" "JPH2_000128" "g.42788571T>C" "" "" "" "JPH2(NM_020433.4):c.856A>G (p.T286A), JPH2(NM_020433.5):c.856A>G (p.T286A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159931T>C" "" "VUS" "" "0000569669" "0" "30" "20" "42788571" "42788571" "subst" "0.000987596" "02327" "JPH2_000128" "g.42788571T>C" "" "" "" "JPH2(NM_020433.4):c.856A>G (p.T286A), JPH2(NM_020433.5):c.856A>G (p.T286A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159931T>C" "" "likely benign" "" "0000569670" "0" "30" "20" "42788571" "42788571" "subst" "0.000987596" "02326" "JPH2_000128" "g.42788571T>C" "" "" "" "JPH2(NM_020433.4):c.856A>G (p.T286A), JPH2(NM_020433.5):c.856A>G (p.T286A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159931T>C" "" "likely benign" "" "0000569671" "0" "50" "20" "42788580" "42788580" "subst" "0" "02330" "JPH2_000129" "g.42788580T>C" "" "" "" "JPH2(NM_020433.5):c.847A>G (p.I283V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159940T>C" "" "VUS" "" "0000569672" "0" "10" "20" "42788581" "42788581" "subst" "0" "02330" "JPH2_000130" "g.42788581A>G" "" "" "" "JPH2(NM_020433.5):c.846T>C (p.D282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159941A>G" "" "benign" "" "0000569673" "0" "30" "20" "42788607" "42788607" "subst" "0.000348346" "02330" "JPH2_000131" "g.42788607C>T" "" "" "" "JPH2(NM_020433.5):c.820G>A (p.D274N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159967C>T" "" "likely benign" "" "0000569674" "0" "30" "20" "42788607" "42788607" "subst" "0.000348346" "02327" "JPH2_000131" "g.42788607C>T" "" "" "" "JPH2(NM_020433.5):c.820G>A (p.D274N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159967C>T" "" "likely benign" "" "0000569675" "0" "30" "20" "42788607" "42788607" "subst" "0.000348346" "02325" "JPH2_000131" "g.42788607C>T" "" "" "" "JPH2(NM_020433.5):c.820G>A (p.D274N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159967C>T" "" "likely benign" "" "0000569676" "0" "30" "20" "42788612" "42788612" "subst" "0" "02327" "JPH2_000132" "g.42788612C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159972C>T" "" "likely benign" "" "0000569677" "0" "30" "20" "42788617" "42788617" "subst" "4.8677E-6" "01943" "JPH2_000052" "g.42788617G>T" "" "" "" "JPH2(NM_020433.4):c.810C>A (p.A270=), JPH2(NM_020433.5):c.810C>A (p.A270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159977G>T" "" "likely benign" "" "0000569679" "0" "30" "20" "42788622" "42788622" "subst" "0" "02327" "JPH2_000133" "g.42788622C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159982C>A" "" "likely benign" "" "0000569680" "0" "30" "20" "42788624" "42788624" "subst" "0" "02327" "JPH2_000134" "g.42788624T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159984T>G" "" "likely benign" "" "0000569681" "0" "30" "20" "42788647" "42788647" "subst" "0.00126977" "02325" "JPH2_000135" "g.42788647G>A" "" "" "" "JPH2(NM_020433.4):c.780C>T (p.A260=), JPH2(NM_020433.5):c.780C>T (p.A260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160007G>A" "" "likely benign" "" "0000569682" "0" "10" "20" "42788668" "42788668" "subst" "0" "02330" "JPH2_000136" "g.42788668G>A" "" "" "" "JPH2(NM_020433.5):c.759C>T (p.L253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160028G>A" "" "benign" "" "0000569683" "0" "50" "20" "42788704" "42788704" "subst" "0" "01943" "JPH2_000054" "g.42788704G>C" "" "" "" "JPH2(NM_020433.4):c.723C>G (p.S241R), JPH2(NM_020433.5):c.723C>G (p.S241R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160064G>C" "" "VUS" "" "0000569684" "0" "30" "20" "42788717" "42788717" "subst" "0" "02327" "JPH2_000137" "g.42788717G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160077G>A" "" "likely benign" "" "0000569685" "0" "30" "20" "42788735" "42788735" "subst" "0.000226402" "02327" "JPH2_000055" "g.42788735C>T" "" "" "" "JPH2(NM_020433.5):c.692G>A (p.R231Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160095C>T" "" "likely benign" "" "0000569686" "0" "50" "20" "42788741" "42788741" "subst" "0" "02327" "JPH2_000138" "g.42788741T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160101T>G" "" "VUS" "" "0000569687" "0" "10" "20" "42788766" "42788766" "subst" "0.000722587" "02330" "JPH2_000139" "g.42788766A>G" "" "" "" "JPH2(NM_020433.4):c.661T>C (p.F221L), JPH2(NM_020433.5):c.661T>C (p.F221L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160126A>G" "" "benign" "" "0000569688" "0" "50" "20" "42788766" "42788766" "subst" "0.000722587" "01943" "JPH2_000139" "g.42788766A>G" "" "" "" "JPH2(NM_020433.4):c.661T>C (p.F221L), JPH2(NM_020433.5):c.661T>C (p.F221L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160126A>G" "" "VUS" "" "0000569689" "0" "30" "20" "42788766" "42788766" "subst" "0.000722587" "02325" "JPH2_000139" "g.42788766A>G" "" "" "" "JPH2(NM_020433.4):c.661T>C (p.F221L), JPH2(NM_020433.5):c.661T>C (p.F221L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160126A>G" "" "likely benign" "" "0000569690" "0" "30" "20" "42788785" "42788785" "subst" "0.000326181" "01943" "JPH2_000057" "g.42788785C>T" "" "" "" "JPH2(NM_020433.4):c.642G>A (p.A214=), JPH2(NM_020433.5):c.642G>A (p.A214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160145C>T" "" "likely benign" "" "0000569691" "0" "30" "20" "42788790" "42788790" "subst" "0.000378999" "01943" "JPH2_000058" "g.42788790G>A" "" "" "" "JPH2(NM_020433.4):c.637C>T (p.R213W), JPH2(NM_020433.5):c.637C>T (p.R213W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160150G>A" "" "likely benign" "" "0000569692" "0" "30" "20" "42788803" "42788803" "subst" "9.184E-5" "01943" "JPH2_000140" "g.42788803G>A" "" "" "" "JPH2(NM_020433.4):c.624C>T (p.A208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160163G>A" "" "likely benign" "" "0000569693" "0" "30" "20" "42788803" "42788803" "subst" "0.00133168" "02327" "JPH2_000059" "g.42788803G>C" "" "" "" "JPH2(NM_020433.4):c.624C>G (p.A208=), JPH2(NM_020433.5):c.624C>G (p.A208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160163G>C" "" "likely benign" "" "0000569694" "0" "30" "20" "42788807" "42788807" "subst" "4.46409E-5" "02327" "JPH2_000141" "g.42788807T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160167T>C" "" "likely benign" "" "0000569695" "0" "30" "20" "42788821" "42788821" "subst" "0" "02327" "JPH2_000142" "g.42788821G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160181G>C" "" "likely benign" "" "0000569696" "0" "30" "20" "42788852" "42788852" "subst" "0" "02327" "JPH2_000143" "g.42788852G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160212G>A" "" "likely benign" "" "0000569697" "0" "30" "20" "42788855" "42788855" "subst" "0.000687685" "02330" "JPH2_000144" "g.42788855G>C" "" "" "" "JPH2(NM_020433.4):c.572C>G (p.P191R), JPH2(NM_020433.5):c.572C>G (p.P191R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160215G>C" "" "likely benign" "" "0000569698" "0" "30" "20" "42788855" "42788855" "subst" "0.000687685" "01943" "JPH2_000144" "g.42788855G>C" "" "" "" "JPH2(NM_020433.4):c.572C>G (p.P191R), JPH2(NM_020433.5):c.572C>G (p.P191R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160215G>C" "" "likely benign" "" "0000569699" "0" "30" "20" "42788855" "42788855" "subst" "0.000687685" "02327" "JPH2_000144" "g.42788855G>C" "" "" "" "JPH2(NM_020433.4):c.572C>G (p.P191R), JPH2(NM_020433.5):c.572C>G (p.P191R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160215G>C" "" "likely benign" "" "0000569700" "0" "30" "20" "42788855" "42788855" "subst" "0.000687685" "02326" "JPH2_000144" "g.42788855G>C" "" "" "" "JPH2(NM_020433.4):c.572C>G (p.P191R), JPH2(NM_020433.5):c.572C>G (p.P191R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160215G>C" "" "likely benign" "" "0000569701" "0" "50" "20" "42788883" "42788883" "subst" "0" "02327" "JPH2_000145" "g.42788883A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160243A>G" "" "VUS" "" "0000569702" "0" "30" "20" "42788905" "42788905" "subst" "0" "02327" "JPH2_000146" "g.42788905C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160265C>T" "" "likely benign" "" "0000569704" "0" "10" "20" "42788971" "42788971" "subst" "0" "02330" "JPH2_000148" "g.42788971G>A" "" "" "" "JPH2(NM_020433.5):c.456C>T (p.A152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160331G>A" "" "benign" "" "0000569705" "0" "90" "20" "42789001" "42789002" "del" "0" "02330" "JPH2_000149" "g.42789001_42789002del" "" "" "" "JPH2(NM_020433.5):c.426_427delAG (p.V143Tfs*98)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160361_44160362del" "" "pathogenic" "" "0000569707" "0" "10" "20" "42789053" "42789053" "subst" "0.00281179" "02327" "JPH2_000066" "g.42789053G>A" "" "" "" "JPH2(NM_020433.4):c.380-6C>T, JPH2(NM_020433.5):c.380-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160413G>A" "" "benign" "" "0000569708" "0" "30" "20" "42789056" "42789056" "subst" "0.00438754" "01943" "JPH2_000067" "g.42789056G>C" "" "" "" "JPH2(NM_020433.4):c.380-9C>G, JPH2(NM_020433.5):c.380-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160416G>C" "" "likely benign" "" "0000569709" "0" "10" "20" "42789056" "42789056" "subst" "0.00438754" "02327" "JPH2_000067" "g.42789056G>C" "" "" "" "JPH2(NM_020433.4):c.380-9C>G, JPH2(NM_020433.5):c.380-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160416G>C" "" "benign" "" "0000569710" "0" "10" "20" "42814955" "42814955" "subst" "7.4214E-5" "02330" "JPH2_000072" "g.42814955A>C" "" "" "" "JPH2(NM_020433.5):c.379+12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186315A>C" "" "benign" "" "0000569711" "0" "30" "20" "42815019" "42815019" "subst" "4.06782E-6" "01943" "JPH2_000151" "g.42815019G>T" "" "" "" "JPH2(NM_020433.4):c.327C>A (p.T109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186379G>T" "" "likely benign" "" "0000569712" "0" "50" "20" "42815121" "42815121" "subst" "0" "01943" "JPH2_000152" "g.42815121C>G" "" "" "" "JPH2(NM_020433.4):c.225G>C (p.E75D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186481C>G" "" "VUS" "" "0000569713" "0" "10" "20" "42815190" "42815190" "subst" "0.845474" "02327" "JPH2_000076" "g.42815190G>A" "" "" "" "JPH2(NM_020433.4):c.156C>T (p.Y52=), JPH2(NM_020433.5):c.156C>T (p.Y52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186550G>A" "" "benign" "" "0000569714" "0" "10" "20" "42815199" "42815199" "subst" "4.06392E-6" "02330" "JPH2_000153" "g.42815199T>C" "" "" "" "JPH2(NM_020433.5):c.147A>G (p.A49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186559T>C" "" "benign" "" "0000569715" "0" "50" "20" "42815258" "42815258" "subst" "0" "02327" "JPH2_000154" "g.42815258T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186618T>A" "" "VUS" "" "0000569716" "0" "50" "20" "42815288" "42815288" "subst" "1.67915E-5" "02326" "JPH2_000155" "g.42815288C>G" "" "" "" "JPH2(NM_020433.4):c.58G>C (p.G20R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186648C>G" "" "VUS" "" "0000569717" "0" "50" "20" "42815296" "42815296" "subst" "0" "02330" "JPH2_000156" "g.42815296C>A" "" "" "" "JPH2(NM_020433.5):c.50G>T (p.G17V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186656C>A" "" "VUS" "" "0000569718" "0" "50" "20" "42815338" "42815338" "subst" "3.0517E-5" "02327" "JPH2_000079" "g.42815338C>T" "" "" "" "JPH2(NM_020433.5):c.8G>A (p.G3E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186698C>T" "" "VUS" "" "0000569719" "0" "30" "20" "42815341" "42815341" "subst" "0" "02326" "JPH2_000157" "g.42815341C>T" "" "" "" "JPH2(NM_020433.4):c.5G>A (p.S2N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186701C>T" "" "likely benign" "" "0000569720" "0" "10" "20" "42815411" "42815411" "subst" "0" "02327" "JPH2_000158" "g.42815411G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186771G>A" "" "benign" "" "0000569721" "0" "50" "20" "42815463" "42815463" "subst" "0" "02327" "JPH2_000159" "g.42815463C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186823C>T" "" "VUS" "" "0000569722" "0" "50" "20" "42815687" "42815687" "subst" "0" "02327" "JPH2_000160" "g.42815687A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44187047A>T" "" "VUS" "" "0000618125" "0" "10" "20" "42743434" "42743434" "subst" "2.67475E-5" "02330" "JPH2_000161" "g.42743434G>A" "" "" "" "JPH2(NM_020433.5):c.*2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44114794G>A" "" "benign" "" "0000618126" "0" "30" "20" "42744318" "42744323" "dup" "0" "02327" "JPH2_000092" "g.42744318_42744323dup" "" "" "" "JPH2(NM_020433.5):c.1991delCinsCGGAGGT (p.V668_E669dup), JPH2(NM_020433.5):c.1995_2000dupGGTGGA (p.V668_E669dup), JPH2(NM_020433.5):c.2001_2006dupG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115678_44115683dup" "" "likely benign" "" "0000618127" "0" "30" "20" "42744338" "42744338" "subst" "2.49459E-5" "01943" "JPH2_000162" "g.42744338T>C" "" "" "" "JPH2(NM_020433.4):c.1977A>G (p.A659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115698T>C" "" "likely benign" "" "0000618128" "0" "30" "20" "42744398" "42744398" "subst" "1.24787E-5" "01943" "JPH2_000163" "g.42744398C>T" "" "" "" "JPH2(NM_020433.4):c.1917G>A (p.K639=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115758C>T" "" "likely benign" "" "0000618129" "0" "30" "20" "42744491" "42744491" "subst" "0" "02327" "JPH2_000164" "g.42744491C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115851C>G" "" "likely benign" "" "0000618130" "0" "30" "20" "42744499" "42744499" "subst" "0" "02327" "JPH2_000165" "g.42744499C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115859C>A" "" "likely benign" "" "0000618131" "0" "70" "20" "42744499" "42744500" "ins" "0" "02327" "JPH2_000166" "g.42744499_42744500insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115859_44115860insT" "" "likely pathogenic" "" "0000618132" "0" "50" "20" "42744505" "42744506" "ins" "0" "02327" "JPH2_000167" "g.42744505_42744506insGCT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115865_44115866insGCT" "" "VUS" "" "0000618133" "0" "50" "20" "42744626" "42744626" "del" "0" "02327" "JPH2_000168" "g.42744626del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44115986del" "" "VUS" "" "0000618134" "0" "10" "20" "42744652" "42744652" "subst" "0" "02327" "JPH2_000169" "g.42744652A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116012A>G" "" "benign" "" "0000618135" "0" "10" "20" "42744666" "42744666" "del" "0" "02327" "JPH2_000170" "g.42744666del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116026del" "" "benign" "" "0000618136" "0" "30" "20" "42744707" "42744707" "subst" "0" "02327" "JPH2_000171" "g.42744707C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116067C>T" "" "likely benign" "" "0000618137" "0" "50" "20" "42744750" "42744750" "subst" "0" "02330" "JPH2_000173" "g.42744750C>T" "" "" "" "JPH2(NM_020433.5):c.1565G>A (p.R522Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116110C>T" "" "VUS" "" "0000618138" "0" "10" "20" "42744802" "42744802" "subst" "0.00911758" "02327" "JPH2_000028" "g.42744802C>T" "" "" "" "JPH2(NM_020433.4):c.1513G>A (p.G505S), JPH2(NM_020433.5):c.1513G>A (p.G505S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116162C>T" "" "benign" "" "0000618139" "0" "50" "20" "42744855" "42744855" "subst" "0" "02327" "JPH2_000174" "g.42744855G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116215G>A" "" "VUS" "" "0000618140" "0" "50" "20" "42744906" "42744906" "subst" "0" "02327" "JPH2_000175" "g.42744906G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116266G>A" "" "VUS" "" "0000618141" "0" "30" "20" "42744935" "42744935" "subst" "0.000290192" "02327" "JPH2_000032" "g.42744935C>T" "" "" "" "JPH2(NM_020433.4):c.1380G>A (p.A460=), JPH2(NM_020433.5):c.1380G>A (p.A460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116295C>T" "" "likely benign" "" "0000618142" "0" "30" "20" "42744960" "42744960" "subst" "0" "02327" "JPH2_000176" "g.42744960G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116320G>A" "" "likely benign" "" "0000618143" "0" "30" "20" "42745019" "42745019" "subst" "1.49972E-5" "02327" "JPH2_000177" "g.42745019T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116379T>C" "" "likely benign" "" "0000618144" "0" "50" "20" "42747145" "42747145" "subst" "0" "02327" "JPH2_000178" "g.42747145C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44118505C>T" "" "VUS" "" "0000618145" "0" "30" "20" "42747229" "42747229" "subst" "0.000290225" "02327" "JPH2_000004" "g.42747229C>T" "" "" "" "JPH2(NM_020433.4):c.1204G>A (p.E402K), JPH2(NM_020433.5):c.1204G>A (p.E402K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44118589C>T" "" "likely benign" "" "0000618146" "0" "30" "20" "42788248" "42788248" "subst" "6.23697E-5" "02327" "JPH2_000044" "g.42788248G>A" "" "" "" "JPH2(NM_020433.4):c.1169+10C>T, JPH2(NM_020433.5):c.1169+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159608G>A" "" "likely benign" "" "0000618147" "0" "50" "20" "42788306" "42788306" "subst" "0" "02327" "JPH2_000179" "g.42788306T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159666T>G" "" "VUS" "" "0000618148" "0" "30" "20" "42788320" "42788320" "subst" "8.17835E-5" "02327" "JPH2_000123" "g.42788320A>G" "" "" "" "JPH2(NM_020433.5):c.1107T>C (p.S369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159680A>G" "" "likely benign" "" "0000618149" "0" "30" "20" "42788348" "42788348" "subst" "8.14823E-6" "02326" "JPH2_000180" "g.42788348T>C" "" "" "" "JPH2(NM_020433.4):c.1079A>G (p.N360S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159708T>C" "" "likely benign" "" "0000618150" "0" "50" "20" "42788349" "42788349" "subst" "0" "02330" "JPH2_000181" "g.42788349T>C" "" "" "" "JPH2(NM_020433.5):c.1078A>G (p.N360D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159709T>C" "" "VUS" "" "0000618151" "0" "30" "20" "42788589" "42788589" "subst" "9.46147E-5" "01943" "JPH2_000182" "g.42788589C>T" "" "" "" "JPH2(NM_020433.4):c.838G>A (p.E280K), JPH2(NM_020433.5):c.838G>A (p.E280K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44159949C>T" "" "likely benign" "" "0000618152" "0" "30" "20" "42788645" "42788645" "subst" "0" "02327" "JPH2_000183" "g.42788645G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160005G>T" "" "likely benign" "" "0000618153" "0" "50" "20" "42788655" "42788655" "subst" "0" "02327" "JPH2_000184" "g.42788655T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160015T>C" "" "VUS" "" "0000618155" "0" "30" "20" "42788779" "42788779" "subst" "0.00016957" "02327" "JPH2_000001" "g.42788779C>T" "" "" "" "JPH2(NM_020433.4):c.648G>A (p.K216=), JPH2(NM_020433.5):c.648G>A (p.K216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160139C>T" "" "likely benign" "" "0000618156" "0" "50" "20" "42788796" "42788796" "subst" "0" "02327" "JPH2_000185" "g.42788796C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44160156C>G" "" "VUS" "" "0000618157" "0" "10" "20" "42814931" "42814931" "subst" "0.847106" "02327" "JPH2_000186" "g.42814931T>C" "" "" "" "JPH2(NM_020433.5):c.379+36A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186291T>C" "" "benign" "" "0000618158" "0" "50" "20" "42815005" "42815005" "subst" "0" "02327" "JPH2_000187" "g.42815005A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186365A>G" "" "VUS" "" "0000618159" "0" "30" "20" "42815057" "42815057" "subst" "0" "02327" "JPH2_000188" "g.42815057G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186417G>T" "" "likely benign" "" "0000618160" "0" "50" "20" "42815100" "42815100" "subst" "0" "02327" "JPH2_000189" "g.42815100G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186460G>T" "" "VUS" "" "0000618161" "0" "50" "20" "42815134" "42815134" "subst" "0" "02325" "JPH2_000190" "g.42815134C>T" "" "" "" "JPH2(NM_020433.5):c.212G>A (p.G71E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186494C>T" "" "VUS" "" "0000618162" "0" "50" "20" "42815338" "42815338" "subst" "3.0517E-5" "02330" "JPH2_000079" "g.42815338C>T" "" "" "" "JPH2(NM_020433.5):c.8G>A (p.G3E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186698C>T" "" "VUS" "" "0000624159" "0" "30" "20" "42744709" "42744709" "subst" "0" "02326" "JPH2_000172" "g.42744709C>T" "" "" "" "JPH2(NM_020433.4):c.1606G>A (p.A536T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44116069C>T" "" "likely benign" "" "0000650785" "1" "10" "20" "42745033" "42745033" "subst" "0.0188584" "03575" "JPH2_000035" "g.42745033G>A" "28/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "28 heterozygous, no homozygous; {DB:CLININrs116986535}" "Germline" "" "rs116986535" "0" "" "" "g.44116393G>A" "" "benign" "" "0000658764" "0" "50" "20" "42814996" "42814996" "subst" "0" "02330" "JPH2_000074" "g.42814996C>T" "" "" "" "JPH2(NM_020433.5):c.350G>A (p.G117D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186356C>T" "" "VUS" "" "0000658765" "0" "10" "20" "42815163" "42815163" "subst" "0" "02330" "JPH2_000191" "g.42815163C>T" "" "" "" "JPH2(NM_020433.5):c.183G>A (p.E61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44186523C>T" "" "benign" "" "0000681608" "0" "10" "20" "42744323" "42744323" "subst" "5.42394E-5" "02330" "JPH2_000192" "g.42744323C>T" "" "" "" "JPH2(NM_020433.5):c.1992G>A (p.A664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000681609" "0" "10" "20" "42744491" "42744491" "subst" "0" "02327" "JPH2_000193" "g.42744491C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000681610" "0" "50" "20" "42744751" "42744751" "subst" "0" "02330" "JPH2_000002" "g.42744751G>A" "" "" "" "JPH2(NM_020433.4):c.1564C>T (p.R522W), JPH2(NM_020433.5):c.1564C>T (p.R522W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681611" "0" "50" "20" "42744850" "42744851" "ins" "0" "02327" "JPH2_000194" "g.42744850_42744851insAAGCT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681612" "0" "30" "20" "42744872" "42744872" "subst" "0" "02327" "JPH2_000195" "g.42744872C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681613" "0" "50" "20" "42788288" "42788288" "subst" "0" "02327" "JPH2_000196" "g.42788288G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681614" "0" "10" "20" "42788647" "42788647" "subst" "0.00126977" "02326" "JPH2_000135" "g.42788647G>A" "" "" "" "JPH2(NM_020433.4):c.780C>T (p.A260=), JPH2(NM_020433.5):c.780C>T (p.A260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000681615" "0" "50" "20" "42788829" "42788829" "subst" "0" "02326" "JPH2_000197" "g.42788829A>C" "" "" "" "JPH2(NM_020433.4):c.598T>G (p.F200V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681616" "0" "30" "20" "42788829" "42788829" "subst" "0" "02327" "JPH2_000198" "g.42788829A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692980" "0" "30" "20" "42744463" "42744463" "subst" "0.000220253" "01943" "JPH2_000016" "g.42744463T>C" "" "" "" "JPH2(NM_020433.4):c.1852A>G (p.T618A), JPH2(NM_020433.5):c.1852A>G (p.T618A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692981" "0" "30" "20" "42744532" "42744532" "subst" "1.61589E-5" "01943" "JPH2_000199" "g.42744532C>T" "" "" "" "JPH2(NM_020433.4):c.1783G>A (p.A595T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692982" "0" "30" "20" "42744644" "42744644" "subst" "5.31163E-5" "01943" "JPH2_000200" "g.42744644C>T" "" "" "" "JPH2(NM_020433.4):c.1671G>A (p.E557=), JPH2(NM_020433.5):c.1671G>A (p.E557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692983" "0" "50" "20" "42788345" "42788345" "subst" "0" "02326" "JPH2_000201" "g.42788345T>C" "" "" "" "JPH2(NM_020433.4):c.1082A>G (p.K361R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000704369" "0" "50" "20" "42744813" "42744813" "subst" "0" "00006" "JPH2_000202" "g.42744813A>C" "" "{PMID:Isbister 2020:32931854}" "" "" "" "Germline" "" "" "0" "" "" "g.44116173A>C" "" "VUS" "ACMG" "0000727686" "0" "10" "20" "42744341" "42744341" "subst" "2.49275E-5" "02330" "JPH2_000013" "g.42744341G>A" "" "" "" "JPH2(NM_020433.4):c.1974C>T (p.A658=), JPH2(NM_020433.5):c.1974C>T (p.A658=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000727687" "0" "30" "20" "42744626" "42744626" "subst" "1.08426E-5" "02330" "JPH2_000203" "g.42744626G>A" "" "" "" "JPH2(NM_020433.5):c.1689C>T (p.Y563=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727688" "0" "30" "20" "42744657" "42744657" "subst" "0" "01943" "JPH2_000204" "g.42744657G>A" "" "" "" "JPH2(NM_020433.4):c.1658C>T (p.A553V), JPH2(NM_020433.5):c.1658C>T (p.A553V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727689" "0" "50" "20" "42744764" "42744764" "subst" "0" "02330" "JPH2_000026" "g.42744764G>T" "" "" "" "JPH2(NM_020433.5):c.1551C>A (p.S517R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727690" "0" "90" "20" "42747152" "42747152" "subst" "0" "02326" "JPH2_000205" "g.42747152G>T" "" "" "" "JPH2(NM_020433.4):c.1281C>A (p.Y427*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727691" "0" "30" "20" "42788571" "42788571" "subst" "0.000987596" "02325" "JPH2_000128" "g.42788571T>C" "" "" "" "JPH2(NM_020433.4):c.856A>G (p.T286A), JPH2(NM_020433.5):c.856A>G (p.T286A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727692" "0" "50" "20" "42788849" "42788849" "subst" "0" "01943" "JPH2_000206" "g.42788849G>A" "" "" "" "JPH2(NM_020433.4):c.578C>T (p.P193L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727693" "0" "50" "20" "42815201" "42815201" "subst" "0" "02325" "JPH2_000207" "g.42815201C>T" "" "" "" "JPH2(NM_020433.5):c.145G>A (p.A49T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809251" "0" "30" "20" "42744521" "42744521" "subst" "0.00048569" "02326" "JPH2_000017" "g.42744521G>T" "" "" "" "JPH2(NM_020433.4):c.1794C>A (p.=), JPH2(NM_020433.5):c.1794C>A (p.S598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809252" "0" "30" "20" "42744734" "42744734" "subst" "1.00725E-5" "01943" "JPH2_000208" "g.42744734G>C" "" "" "" "JPH2(NM_020433.4):c.1581C>G (p.S527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809253" "0" "30" "20" "42744958" "42744958" "subst" "3.06626E-5" "01943" "JPH2_000209" "g.42744958G>A" "" "" "" "JPH2(NM_020433.4):c.1357C>T (p.P453S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855840" "0" "10" "20" "42744644" "42744644" "subst" "5.31163E-5" "02330" "JPH2_000200" "g.42744644C>T" "" "" "" "JPH2(NM_020433.4):c.1671G>A (p.E557=), JPH2(NM_020433.5):c.1671G>A (p.E557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855841" "0" "50" "20" "42744751" "42744751" "subst" "0" "02326" "JPH2_000002" "g.42744751G>A" "" "" "" "JPH2(NM_020433.4):c.1564C>T (p.R522W), JPH2(NM_020433.5):c.1564C>T (p.R522W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855842" "0" "30" "20" "42744921" "42744921" "subst" "0" "02327" "JPH2_000210" "g.42744921G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855843" "0" "30" "20" "42747200" "42747200" "subst" "5.70362E-5" "01943" "JPH2_000211" "g.42747200C>T" "" "" "" "JPH2(NM_020433.4):c.1233G>A (p.E411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855844" "0" "50" "20" "42788505" "42788505" "subst" "0" "02327" "JPH2_000213" "g.42788505G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855845" "0" "30" "20" "42788644" "42788644" "subst" "5.35699E-5" "02327" "JPH2_000053" "g.42788644C>G" "" "" "" "JPH2(NM_020433.4):c.783G>C (p.A261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855846" "0" "30" "20" "42788790" "42788790" "subst" "0" "02327" "JPH2_000215" "g.42788790G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866461" "0" "50" "20" "42788412" "42788412" "subst" "5.72578E-5" "02330" "JPH2_000212" "g.42788412C>T" "" "" "" "JPH2(NM_020433.5):c.1015G>A (p.G339S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866462" "0" "50" "20" "42788720" "42788720" "subst" "0" "02330" "JPH2_000214" "g.42788720C>T" "" "" "" "JPH2(NM_020433.5):c.707G>A (p.R236H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895307" "0" "50" "20" "42743421" "42743421" "subst" "0" "02326" "JPH2_000216" "g.42743421C>T" "" "" "" "JPH2(NM_020433.4):c.*14+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895308" "0" "30" "20" "42743514" "42743514" "subst" "9.11901E-6" "02326" "JPH2_000217" "g.42743514G>C" "" "" "" "JPH2(NM_020433.4):c.2013C>G (p.V671=), JPH2(NM_020433.5):c.2013C>G (p.V671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895309" "0" "50" "20" "42743516" "42743516" "subst" "0" "02326" "JPH2_000218" "g.42743516C>T" "" "" "" "JPH2(NM_020433.4):c.2011G>A (p.V671I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895310" "0" "50" "20" "42744525" "42744525" "subst" "0" "02330" "JPH2_000219" "g.42744525G>A" "" "" "" "JPH2(NM_020433.5):c.1790C>T (p.S597L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895311" "0" "50" "20" "42744657" "42744657" "subst" "0" "02330" "JPH2_000204" "g.42744657G>A" "" "" "" "JPH2(NM_020433.4):c.1658C>T (p.A553V), JPH2(NM_020433.5):c.1658C>T (p.A553V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895312" "0" "30" "20" "42744657" "42744657" "subst" "0" "02326" "JPH2_000204" "g.42744657G>A" "" "" "" "JPH2(NM_020433.4):c.1658C>T (p.A553V), JPH2(NM_020433.5):c.1658C>T (p.A553V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895313" "0" "50" "20" "42744896" "42744896" "subst" "9.28902E-6" "02327" "JPH2_000220" "g.42744896G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895314" "0" "50" "20" "42744991" "42744991" "subst" "0" "02330" "JPH2_000113" "g.42744991T>C" "" "" "" "JPH2(NM_020433.4):c.1324A>G (p.I442V), JPH2(NM_020433.5):c.1324A>G (p.I442V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895315" "0" "30" "20" "42745035" "42745035" "subst" "0" "02326" "JPH2_000036" "g.42745035G>A" "" "" "" "JPH2(NM_020433.4):c.1289-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895316" "0" "10" "20" "42788296" "42788296" "subst" "0" "02330" "JPH2_000221" "g.42788296A>T" "" "" "" "JPH2(NM_020433.5):c.1131T>A (p.A377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895317" "0" "50" "20" "42788322" "42788322" "subst" "4.08744E-6" "02325" "JPH2_000222" "g.42788322T>G" "" "" "" "JPH2(NM_020433.5):c.1105A>C (p.S369R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895318" "0" "50" "20" "42788447" "42788447" "subst" "4.09541E-6" "02325" "JPH2_000125" "g.42788447C>T" "" "" "" "JPH2(NM_020433.5):c.980G>A (p.G327D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895319" "0" "50" "20" "42788451" "42788451" "subst" "4.09574E-6" "02325" "JPH2_000223" "g.42788451A>G" "" "" "" "JPH2(NM_020433.5):c.976T>C (p.Y326H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895320" "0" "50" "20" "42788452" "42788452" "subst" "4.09705E-6" "02325" "JPH2_000224" "g.42788452G>T" "" "" "" "JPH2(NM_020433.5):c.975C>A (p.G325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895321" "0" "50" "20" "42788457" "42788458" "dup" "0" "02327" "JPH2_000225" "g.42788457_42788458dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895322" "0" "30" "20" "42788608" "42788608" "subst" "0.000123981" "02326" "JPH2_000051" "g.42788608G>T" "" "" "" "JPH2(NM_020433.4):c.819C>A (p.A273=), JPH2(NM_020433.5):c.819C>A (p.A273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895323" "0" "30" "20" "42788617" "42788617" "subst" "4.8677E-6" "02326" "JPH2_000052" "g.42788617G>T" "" "" "" "JPH2(NM_020433.4):c.810C>A (p.A270=), JPH2(NM_020433.5):c.810C>A (p.A270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895324" "0" "30" "20" "42788766" "42788766" "subst" "0.000722587" "02326" "JPH2_000139" "g.42788766A>G" "" "" "" "JPH2(NM_020433.4):c.661T>C (p.F221L), JPH2(NM_020433.5):c.661T>C (p.F221L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895325" "0" "30" "20" "42788790" "42788790" "subst" "0.000378999" "02326" "JPH2_000058" "g.42788790G>A" "" "" "" "JPH2(NM_020433.4):c.637C>T (p.R213W), JPH2(NM_020433.5):c.637C>T (p.R213W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895326" "0" "10" "20" "42814983" "42814983" "subst" "8.17688E-6" "02330" "JPH2_000226" "g.42814983C>T" "" "" "" "JPH2(NM_020433.5):c.363G>A (p.E121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895327" "0" "50" "20" "42815053" "42815053" "subst" "0" "02325" "JPH2_000227" "g.42815053T>C" "" "" "" "JPH2(NM_020433.5):c.293A>G (p.Q98R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915368" "0" "10" "20" "42745060" "42745060" "subst" "0.00215856" "02325" "JPH2_000228" "g.42745060C>A" "" "" "" "JPH2(NM_020433.5):c.1289-34G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915369" "0" "30" "20" "42788865" "42788865" "subst" "0.000420063" "02326" "JPH2_000061" "g.42788865G>A" "" "" "" "JPH2(NM_020433.4):c.562C>T (p.P188S), JPH2(NM_020433.5):c.562C>T (p.P188S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915370" "0" "10" "20" "42814931" "42814931" "subst" "0.847106" "02325" "JPH2_000186" "g.42814931T>C" "" "" "" "JPH2(NM_020433.5):c.379+36A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927004" "0" "50" "20" "42744419" "42744419" "subst" "7.13135E-5" "02330" "JPH2_000229" "g.42744419C>G" "" "" "" "JPH2(NM_020433.5):c.1896G>C (p.E632D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927005" "0" "50" "20" "42744559" "42744564" "del" "0" "02325" "JPH2_000230" "g.42744559_42744564del" "" "" "" "JPH2(NM_020433.5):c.1759_1764delCCCGAG (p.P587_E588del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927006" "0" "50" "20" "42744601" "42744601" "subst" "0" "02325" "JPH2_000022" "g.42744601G>A" "" "" "" "JPH2(NM_020433.5):c.1714C>T (p.R572C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927007" "0" "50" "20" "42744711" "42744711" "subst" "0" "02330" "JPH2_000231" "g.42744711G>A" "" "" "" "JPH2(NM_020433.5):c.1604C>T (p.P535L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927008" "0" "50" "20" "42788517" "42788517" "subst" "0" "02330" "JPH2_000232" "g.42788517C>A" "" "" "" "JPH2(NM_020433.5):c.910G>T (p.G304C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931170" "0" "30" "20" "42744507" "42744507" "subst" "5.86545E-5" "02327" "JPH2_000233" "g.42744507G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931171" "0" "10" "20" "42789056" "42789056" "subst" "0.00438754" "02326" "JPH2_000067" "g.42789056G>C" "" "" "" "JPH2(NM_020433.4):c.380-9C>G, JPH2(NM_020433.5):c.380-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951434" "0" "10" "20" "42743514" "42743514" "subst" "9.11901E-6" "02330" "JPH2_000217" "g.42743514G>C" "" "" "" "JPH2(NM_020433.4):c.2013C>G (p.V671=), JPH2(NM_020433.5):c.2013C>G (p.V671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951435" "0" "10" "20" "42788290" "42788290" "subst" "0.000786484" "02330" "JPH2_000121" "g.42788290G>T" "" "" "" "JPH2(NM_020433.4):c.1137C>A (p.I379=), JPH2(NM_020433.5):c.1137C>A (p.I379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951436" "0" "30" "20" "42788790" "42788790" "subst" "0.000378999" "02327" "JPH2_000058" "g.42788790G>A" "" "" "" "JPH2(NM_020433.4):c.637C>T (p.R213W), JPH2(NM_020433.5):c.637C>T (p.R213W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000957814" "0" "50" "20" "42788571" "42788571" "subst" "0.000987596" "00006" "JPH2_000128" "g.42788571T>C" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.44159931T>C" "" "VUS" "" "0000970146" "0" "30" "20" "42744338" "42744338" "subst" "2.49459E-5" "02326" "JPH2_000162" "g.42744338T>C" "" "" "" "JPH2(NM_020433.4):c.1977A>G (p.A659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970147" "0" "50" "20" "42744625" "42744625" "subst" "0" "02325" "JPH2_000234" "g.42744625G>A" "" "" "" "JPH2(NM_020433.5):c.1690C>T (p.Q564*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970148" "0" "50" "20" "42744733" "42744733" "subst" "0" "02330" "JPH2_000235" "g.42744733C>T" "" "" "" "JPH2(NM_020433.5):c.1582G>A (p.E528K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970149" "0" "50" "20" "42744792" "42744792" "subst" "0" "02326" "JPH2_000236" "g.42744792C>T" "" "" "" "JPH2(NM_020433.4):c.1523G>A (p.S508N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970150" "0" "10" "20" "42788647" "42788647" "subst" "0.00126977" "02330" "JPH2_000135" "g.42788647G>A" "" "" "" "JPH2(NM_020433.4):c.780C>T (p.A260=), JPH2(NM_020433.5):c.780C>T (p.A260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000970151" "0" "50" "20" "42788704" "42788704" "subst" "0" "02326" "JPH2_000054" "g.42788704G>C" "" "" "" "JPH2(NM_020433.4):c.723C>G (p.S241R), JPH2(NM_020433.5):c.723C>G (p.S241R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970152" "0" "30" "20" "42788704" "42788704" "subst" "0" "02327" "JPH2_000054" "g.42788704G>C" "" "" "" "JPH2(NM_020433.4):c.723C>G (p.S241R), JPH2(NM_020433.5):c.723C>G (p.S241R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970153" "0" "10" "20" "42815133" "42815133" "subst" "0" "02330" "JPH2_000237" "g.42815133C>T" "" "" "" "JPH2(NM_020433.5):c.213G>A (p.G71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983804" "0" "50" "20" "42788910" "42788910" "subst" "3.07754E-5" "02330" "JPH2_000238" "g.42788910C>A" "" "" "" "JPH2(NM_020433.5):c.517G>T (p.G173C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989407" "0" "50" "20" "42788444" "42788444" "subst" "0" "03779" "JPH2_000239" "g.42788444C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000989506" "0" "50" "20" "42788913" "42788918" "dup" "0" "03779" "JPH2_000241" "g.42788913_42788918dup" "" "" "" "" "" "CLASSIFICATION record" "" "rs864309612" "0" "" "" "" "" "VUS" "" "0000989697" "0" "50" "20" "42744565" "42744565" "subst" "0" "02515" "JPH2_000240" "g.42744565G>T" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs730880253" "0" "" "" "g.44115925G>T" "" "VUS" "" "0001005399" "0" "10" "20" "42788566" "42788566" "subst" "2.08688E-5" "02330" "JPH2_000242" "g.42788566G>A" "" "" "" "JPH2(NM_020433.5):c.861C>T (p.T287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001005400" "0" "50" "20" "42788589" "42788589" "subst" "9.46147E-5" "02330" "JPH2_000182" "g.42788589C>T" "" "" "" "JPH2(NM_020433.4):c.838G>A (p.E280K), JPH2(NM_020433.5):c.838G>A (p.E280K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005401" "0" "50" "20" "42788605" "42788625" "del" "0" "02326" "JPH2_000243" "g.42788605_42788625del" "" "" "" "JPH2(NM_020433.4):c.810_830delCGAGGGCGCCGACGAGGCCGC (p.E271_A277del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005402" "0" "10" "20" "42788845" "42788845" "subst" "0" "02330" "JPH2_000244" "g.42788845G>A" "" "" "" "JPH2(NM_020433.5):c.582C>T (p.A194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001005403" "0" "50" "20" "42815008" "42815008" "subst" "0" "01804" "JPH2_000245" "g.42815008C>A" "" "" "" "JPH2(NM_020433.4):c.338G>T (p.(Gly113Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005404" "0" "50" "20" "42815312" "42815312" "subst" "4.28831E-6" "02325" "JPH2_000246" "g.42815312C>T" "" "" "" "JPH2(NM_020433.5):c.34G>A (p.G12R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005405" "0" "30" "20" "42815349" "42815349" "subst" "3.05907E-5" "02330" "JPH2_000247" "g.42815349A>T" "" "" "" "JPH2(NM_020433.5):c.-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015862" "0" "50" "20" "42788910" "42788910" "subst" "3.07754E-5" "02325" "JPH2_000238" "g.42788910C>A" "" "" "" "JPH2(NM_020433.5):c.517G>T (p.G173C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027312" "0" "50" "20" "42744600" "42744600" "subst" "0" "02327" "JPH2_000248" "g.42744600C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027313" "0" "50" "20" "42745006" "42745006" "subst" "0" "02330" "JPH2_000249" "g.42745006G>A" "" "" "" "JPH2(NM_020433.5):c.1309C>T (p.R437W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027314" "0" "50" "20" "42747187" "42747187" "subst" "8.14598E-6" "02325" "JPH2_000250" "g.42747187G>A" "" "" "" "JPH2(NM_020433.5):c.1246C>T (p.R416C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027315" "0" "30" "20" "42747274" "42747274" "subst" "2.49636E-5" "02326" "JPH2_000119" "g.42747274A>G" "" "" "" "JPH2(NM_020433.4):c.1170-11T>C, JPH2(NM_020433.5):c.1170-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027316" "0" "50" "20" "42788598" "42788598" "subst" "1.35225E-5" "02330" "JPH2_000251" "g.42788598C>A" "" "" "" "JPH2(NM_020433.5):c.829G>T (p.A277S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027317" "0" "50" "20" "42788955" "42788955" "subst" "0" "02325" "JPH2_000252" "g.42788955G>A" "" "" "" "JPH2(NM_020433.5):c.472C>T (p.P158S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027318" "0" "50" "20" "42815024" "42815024" "subst" "4.06755E-6" "02326" "JPH2_000253" "g.42815024C>T" "" "" "" "JPH2(NM_020433.4):c.322G>A (p.G108S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043349" "0" "30" "20" "42788862" "42788862" "subst" "0.000572001" "01804" "JPH2_000060" "g.42788862C>T" "" "" "" "JPH2(NM_020433.5):c.565G>A (p.A189T, p.(Ala189Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043350" "0" "10" "20" "42789053" "42789053" "subst" "0.00281179" "01804" "JPH2_000066" "g.42789053G>A" "" "" "" "JPH2(NM_020433.4):c.380-6C>T, JPH2(NM_020433.5):c.380-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043351" "0" "10" "20" "42806619" "42806619" "subst" "0.000151776" "02330" "JPH2_000254" "g.42806619G>C" "" "" "" "JPH2(NM_020433.5):c.379+8348C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046774" "0" "50" "20" "42788301" "42788301" "subst" "0" "02325" "JPH2_000255" "g.42788301C>A" "" "" "" "JPH2(NM_020433.5):c.1126G>T (p.A376S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046775" "0" "50" "20" "42788430" "42788430" "subst" "8.23649E-6" "02326" "JPH2_000048" "g.42788430C>T" "" "" "" "JPH2(NM_020433.4):c.997G>A (p.D333N), JPH2(NM_020433.5):c.997G>A (p.D333N)" "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 JPH2 ## Count = 380 "{{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}}" "0000036015" "00010276" "55" "648" "0" "648" "0" "c.648G>A" "r.(?)" "p.(=)" "?" "0000218360" "00010276" "50" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0000218377" "00010276" "50" "611" "0" "611" "0" "c.611T>G" "r.(?)" "p.(Leu204Arg)" "" "0000218379" "00010276" "50" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Arg522Trp)" "" "0000218395" "00010276" "50" "1399" "0" "1399" "0" "c.1399C>T" "r.(?)" "p.(Arg467Cys)" "" "0000218397" "00010276" "50" "1088" "0" "1088" "0" "c.1088G>T" "r.(?)" "p.(Arg363Leu)" "" "0000247659" "00010276" "10" "2073" "0" "2073" "0" "c.2073T>C" "r.(?)" "p.(Phe691=)" "" "0000247665" "00010276" "10" "379" "8362" "379" "8362" "c.379+8362T>C" "r.(=)" "p.(=)" "" "0000247671" "00010276" "50" "535" "0" "535" "0" "c.535T>G" "r.(?)" "p.(Ser179Ala)" "" "0000247672" "00010276" "50" "1780" "0" "1780" "0" "c.1780T>A" "r.(?)" "p.(Ser594Thr)" "" "0000249579" "00010276" "30" "379" "12" "379" "12" "c.379+12T>G" "r.(=)" "p.(=)" "" "0000249602" "00010276" "70" "497" "0" "497" "0" "c.497T>C" "r.(?)" "p.(Leu166Pro)" "" "0000249848" "00010276" "50" "-9" "0" "-9" "0" "c.-9T>G" "r.(?)" "p.(=)" "" "0000253368" "00010276" "10" "2073" "0" "2073" "0" "c.2073T>C" "r.(?)" "p.(Phe691=)" "" "0000278151" "00010276" "50" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.(Leu357Phe)" "" "0000278152" "00010276" "10" "1169" "10" "1169" "10" "c.1169+10C>T" "r.(=)" "p.(=)" "" "0000278153" "00010276" "10" "1170" "-16" "1170" "-13" "c.1170-16_1170-13del" "r.(=)" "p.(=)" "" "0000278154" "00010276" "10" "1179" "0" "1179" "0" "c.1179C>T" "r.(?)" "p.(His393=)" "" "0000278155" "00010276" "10" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Ala396Thr)" "" "0000278156" "00010276" "50" "1202" "0" "1202" "0" "c.1202C>T" "r.(?)" "p.(Ala401Val)" "" "0000278157" "00010276" "50" "1213" "0" "1213" "0" "c.1213G>A" "r.(?)" "p.(Ala405Thr)" "" "0000278158" "00010276" "50" "1247" "0" "1247" "0" "c.1247G>A" "r.(?)" "p.(Arg416His)" "" "0000278159" "00010276" "10" "1289" "-7" "1289" "-7" "c.1289-7C>T" "r.(=)" "p.(=)" "" "0000278160" "00010276" "30" "128" "0" "128" "0" "c.128A>G" "r.(?)" "p.(Asn43Ser)" "" "0000278161" "00010276" "10" "1380" "0" "1380" "0" "c.1380G>A" "r.(?)" "p.(Ala460=)" "" "0000278162" "00010276" "50" "1454" "0" "1454" "0" "c.1454C>T" "r.(?)" "p.(Pro485Leu)" "" "0000278163" "00010276" "10" "1497" "0" "1497" "0" "c.1497C>A" "r.(?)" "p.(Pro499=)" "" "0000278164" "00010276" "10" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Gly505Ser)" "" "0000278165" "00010276" "50" "1550" "0" "1550" "0" "c.1550G>A" "r.(?)" "p.(Ser517Asn)" "" "0000278166" "00010276" "10" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Tyr52=)" "" "0000278167" "00010276" "50" "1584" "0" "1584" "0" "c.1584G>C" "r.(?)" "p.(Glu528Asp)" "" "0000278168" "00010276" "10" "1704" "0" "1704" "0" "c.1704C>T" "r.(?)" "p.(Ser568=)" "" "0000278169" "00010276" "50" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572Cys)" "" "0000278170" "00010276" "10" "1728" "0" "1728" "0" "c.1728C>G" "r.(?)" "p.(Pro576=)" "" "0000278171" "00010276" "10" "1776" "0" "1776" "0" "c.1776C>T" "r.(?)" "p.(Ser592=)" "" "0000278172" "00010276" "10" "1794" "0" "1794" "0" "c.1794C>A" "r.(?)" "p.(Ser598=)" "" "0000278173" "00010276" "30" "1852" "0" "1852" "0" "c.1852A>G" "r.(?)" "p.(Thr618Ala)" "" "0000278174" "00010276" "30" "1863" "0" "1863" "0" "c.1863G>A" "r.(?)" "p.(Lys621=)" "" "0000278175" "00010276" "10" "1971" "0" "1971" "0" "c.1971G>A" "r.(?)" "p.(Glu657=)" "" "0000278177" "00010276" "10" "2010" "11" "2010" "11" "c.2010+11C>T" "r.(=)" "p.(=)" "" "0000278178" "00010276" "10" "297" "0" "297" "0" "c.297C>T" "r.(?)" "p.(Ser99=)" "" "0000278179" "00010276" "10" "379" "19" "379" "19" "c.379+19C>T" "r.(=)" "p.(=)" "" "0000278180" "00010276" "50" "379" "1" "379" "1" "c.379+1G>A" "r.spl?" "p.?" "" "0000278181" "00010276" "10" "380" "-6" "380" "-6" "c.380-6C>T" "r.(=)" "p.(=)" "" "0000278182" "00010276" "10" "380" "-9" "380" "-9" "c.380-9C>G" "r.(=)" "p.(=)" "" "0000278183" "00010276" "50" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Ala13Val)" "" "0000278184" "00010276" "10" "483" "0" "483" "0" "c.483G>A" "r.(?)" "p.(Thr161=)" "" "0000278185" "00010276" "10" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Pro188Ser)" "" "0000278186" "00010276" "50" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Ala189Thr)" "" "0000278187" "00010276" "10" "624" "0" "624" "0" "c.624C>G" "r.(?)" "p.(Ala208=)" "" "0000278188" "00010276" "10" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Arg213Trp)" "" "0000278189" "00010276" "10" "642" "0" "642" "0" "c.642G>A" "r.(?)" "p.(Ala214=)" "" "0000278190" "00010276" "10" "648" "0" "648" "0" "c.648G>A" "r.(?)" "p.(Lys216=)" "" "0000278191" "00010276" "50" "692" "0" "692" "0" "c.692G>A" "r.(?)" "p.(Arg231Gln)" "" "0000278192" "00010276" "10" "810" "0" "810" "0" "c.810C>A" "r.(?)" "p.(Ala270=)" "" "0000278193" "00010276" "10" "819" "0" "819" "0" "c.819C>A" "r.(?)" "p.(Ala273=)" "" "0000278194" "00010276" "30" "990" "0" "994" "0" "c.990_994del" "r.(?)" "p.(Leu331ArgfsTer67)" "" "0000278195" "00010276" "50" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Asp333Asn)" "" "0000281630" "00010276" "30" "1161" "0" "1161" "0" "c.1161C>T" "r.(?)" "p.(Ala387=)" "" "0000281631" "00010276" "30" "1169" "10" "1169" "10" "c.1169+10C>T" "r.(=)" "p.(=)" "" "0000281632" "00010276" "50" "1213" "0" "1213" "0" "c.1213G>A" "r.(?)" "p.(Ala405Thr)" "" "0000281633" "00010276" "30" "1380" "0" "1380" "0" "c.1380G>A" "r.(?)" "p.(Ala460=)" "" "0000281634" "00010276" "10" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Gly505Ser)" "" "0000281635" "00010276" "50" "1551" "0" "1551" "0" "c.1551C>A" "r.(?)" "p.(Ser517Arg)" "" "0000281636" "00010276" "30" "1566" "0" "1566" "0" "c.1566G>A" "r.(?)" "p.(Arg522=)" "" "0000281637" "00010276" "10" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Tyr52=)" "" "0000281638" "00010276" "50" "1756" "0" "1756" "0" "c.1756G>A" "r.(?)" "p.(Glu586Lys)" "" "0000281639" "00010276" "30" "1794" "0" "1794" "0" "c.1794C>A" "r.(?)" "p.(Ser598=)" "" "0000281640" "00010276" "30" "1971" "0" "1971" "0" "c.1971G>A" "r.(?)" "p.(Glu657=)" "" "0000281642" "00010276" "30" "2010" "17" "2010" "17" "c.2010+17A>G" "r.(=)" "p.(=)" "" "0000281643" "00010276" "50" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Gly117Asp)" "" "0000281644" "00010276" "30" "380" "-6" "380" "-6" "c.380-6C>T" "r.(=)" "p.(=)" "" "0000281645" "00010276" "30" "380" "-9" "380" "-9" "c.380-9C>G" "r.(=)" "p.(=)" "" "0000281646" "00010276" "30" "624" "0" "624" "0" "c.624C>G" "r.(?)" "p.(Ala208=)" "" "0000281647" "00010276" "30" "648" "0" "648" "0" "c.648G>A" "r.(?)" "p.(Lys216=)" "" "0000281648" "00010276" "50" "668" "0" "668" "0" "c.668G>C" "r.(?)" "p.(Arg223Pro)" "" "0000281649" "00010276" "50" "723" "0" "723" "0" "c.723C>G" "r.(?)" "p.(Ser241Arg)" "" "0000281650" "00010276" "30" "810" "0" "810" "0" "c.810C>A" "r.(?)" "p.(Ala270=)" "" "0000281651" "00010276" "30" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Asn297=)" "" "0000281652" "00010276" "50" "8" "0" "8" "0" "c.8G>A" "r.(?)" "p.(Gly3Glu)" "" "0000285429" "00010276" "50" "1154" "0" "1154" "0" "c.1154A>G" "r.(?)" "p.(Glu385Gly)" "" "0000285430" "00010276" "30" "1169" "10" "1169" "10" "c.1169+10C>T" "r.(=)" "p.(=)" "" "0000285431" "00010276" "50" "1213" "0" "1213" "0" "c.1213G>A" "r.(?)" "p.(Ala405Thr)" "" "0000285432" "00010276" "10" "1289" "-7" "1289" "-7" "c.1289-7C>T" "r.(=)" "p.(=)" "" "0000285433" "00010276" "10" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Gly505Ser)" "" "0000285434" "00010276" "10" "1728" "0" "1728" "0" "c.1728C>G" "r.(?)" "p.(Pro576=)" "" "0000285435" "00010276" "10" "1971" "0" "1971" "0" "c.1971G>A" "r.(?)" "p.(Glu657=)" "" "0000285436" "00010276" "10" "2011" "-51" "2011" "-51" "c.2011-51G>T" "r.(=)" "p.(=)" "" "0000285437" "00010276" "10" "380" "-6" "380" "-6" "c.380-6C>T" "r.(=)" "p.(=)" "" "0000285438" "00010276" "10" "624" "0" "624" "0" "c.624C>G" "r.(?)" "p.(Ala208=)" "" "0000285439" "00010276" "30" "648" "0" "648" "0" "c.648G>A" "r.(?)" "p.(Lys216=)" "" "0000289931" "00010276" "30" "1169" "10" "1169" "10" "c.1169+10C>T" "r.(=)" "p.(=)" "" "0000289932" "00010276" "10" "1179" "0" "1179" "0" "c.1179C>T" "r.(?)" "p.(His393=)" "" "0000289933" "00010276" "10" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Ala396Thr)" "" "0000289934" "00010276" "50" "1243" "0" "1243" "0" "c.1243G>T" "r.(?)" "p.(Ala415Ser)" "" "0000289935" "00010276" "10" "1289" "-7" "1289" "-7" "c.1289-7C>T" "r.(=)" "p.(=)" "" "0000289936" "00010276" "30" "1289" "-9" "1289" "-9" "c.1289-9C>T" "r.(=)" "p.(=)" "" "0000289937" "00010276" "50" "128" "0" "128" "0" "c.128A>G" "r.(?)" "p.(Asn43Ser)" "" "0000289938" "00010276" "50" "1291" "0" "1291" "0" "c.1291C>A" "r.(?)" "p.(Pro431Thr)" "" "0000289939" "00010276" "30" "1293" "0" "1293" "0" "c.1293G>A" "r.(?)" "p.(Pro431=)" "" "0000289940" "00010276" "30" "1380" "0" "1380" "0" "c.1380G>A" "r.(?)" "p.(Ala460=)" "" "0000289941" "00010276" "10" "1424" "0" "1424" "0" "c.1424G>A" "r.(?)" "p.(Arg475His)" "" "0000289942" "00010276" "30" "1497" "0" "1497" "0" "c.1497C>A" "r.(?)" "p.(Pro499=)" "" "0000289943" "00010276" "10" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Gly505Ser)" "" "0000289944" "00010276" "10" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Tyr52=)" "" "0000289945" "00010276" "10" "1728" "0" "1728" "0" "c.1728C>G" "r.(?)" "p.(Pro576=)" "" "0000289946" "00010276" "30" "1971" "0" "1971" "0" "c.1971G>A" "r.(?)" "p.(Glu657=)" "" "0000289947" "00010276" "30" "1974" "0" "1974" "0" "c.1974C>T" "r.(?)" "p.(Ala658=)" "" "0000289948" "00010276" "30" "379" "20" "379" "20" "c.379+20C>T" "r.(=)" "p.(=)" "" "0000289949" "00010276" "10" "380" "-6" "380" "-6" "c.380-6C>T" "r.(=)" "p.(=)" "" "0000289951" "00010276" "30" "531" "0" "531" "0" "c.531G>A" "r.(?)" "p.(Pro177=)" "" "0000289952" "00010276" "30" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Pro188Ser)" "" "0000289953" "00010276" "30" "624" "0" "624" "0" "c.624C>G" "r.(?)" "p.(Ala208=)" "" "0000289954" "00010276" "30" "648" "0" "648" "0" "c.648G>A" "r.(?)" "p.(Lys216=)" "" "0000289955" "00010276" "10" "783" "0" "783" "0" "c.783G>C" "r.(?)" "p.(Ala261=)" "" "0000484330" "00010276" "95" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Gly505Ser)" "" "0000484331" "00010276" "95" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Gly505Ser)" "" "0000484332" "00010276" "30" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Cys)" "" "0000484335" "00010276" "90" "301" "0" "301" "0" "c.301A>C" "r.(?)" "p.(Ser101Arg)" "" "0000484336" "00010276" "90" "421" "0" "421" "0" "c.421T>C" "r.(?)" "p.(Tyr141His)" "" "0000484337" "00010276" "90" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Ser165Phe)" "" "0000569599" "00010276" "30" "3852" "0" "3852" "0" "c.*1761G>C" "r.(=)" "p.(=)" "" "0000569600" "00010276" "30" "3188" "0" "3188" "0" "c.*1097T>C" "r.(=)" "p.(=)" "" "0000569601" "00010276" "30" "3096" "0" "3096" "0" "c.*1005C>T" "r.(=)" "p.(=)" "" "0000569602" "00010276" "30" "2761" "0" "2761" "0" "c.*670C>T" "r.(=)" "p.(=)" "" "0000569603" "00010276" "10" "2010" "40" "2010" "40" "c.2010+40C>G" "r.(=)" "p.(=)" "" "0000569605" "00010276" "10" "1997" "0" "1997" "0" "c.1997T>G" "r.(?)" "p.(Val666Gly)" "" "0000569606" "00010276" "50" "2001" "0" "2006" "0" "c.2001_2006dup" "r.(?)" "p.(Val668_Glu669dup)" "" "0000569607" "00010276" "50" "2001" "0" "2006" "0" "c.2001_2006dup" "r.(?)" "p.(Val668_Glu669dup)" "" "0000569608" "00010276" "30" "1982" "0" "1982" "0" "c.1982C>T" "r.(?)" "p.(Ala661Val)" "" "0000569609" "00010276" "30" "1974" "0" "1974" "0" "c.1974C>T" "r.(?)" "p.(Ala658=)" "" "0000569610" "00010276" "10" "1971" "0" "1971" "0" "c.1971G>A" "r.(?)" "p.(Glu657=)" "" "0000569611" "00010276" "10" "1923" "0" "1923" "0" "c.1923G>T" "r.(?)" "p.(Glu641Asp)" "" "0000569612" "00010276" "10" "1920" "0" "1920" "0" "c.1920T>C" "r.(?)" "p.(Thr640=)" "" "0000569613" "00010276" "10" "1918" "0" "1918" "0" "c.1918A>C" "r.(?)" "p.(Thr640Pro)" "" "0000569614" "00010276" "10" "1914" "0" "1915" "0" "c.1914_1915del" "r.(?)" "p.(Lys639AspfsTer2)" "" "0000569615" "00010276" "30" "1912" "0" "1912" "0" "c.1912C>G" "r.(?)" "p.(Arg638Gly)" "" "0000569616" "00010276" "50" "1861" "0" "1861" "0" "c.1861A>G" "r.(?)" "p.(Lys621Glu)" "" "0000569617" "00010276" "30" "1852" "0" "1852" "0" "c.1852A>G" "r.(?)" "p.(Thr618Ala)" "" "0000569618" "00010276" "30" "1830" "0" "1830" "0" "c.1830A>C" "r.(?)" "p.(Arg610=)" "" "0000569619" "00010276" "50" "1801" "0" "1801" "0" "c.1801A>C" "r.(?)" "p.(Thr601Pro)" "" "0000569620" "00010276" "30" "1794" "0" "1794" "0" "c.1794C>A" "r.(?)" "p.(Ser598=)" "" "0000569621" "00010276" "30" "1785" "0" "1785" "0" "c.1785G>T" "r.(?)" "p.(Ala595=)" "" "0000569622" "00010276" "10" "1767" "0" "1767" "0" "c.1767C>T" "r.(?)" "p.(Val589=)" "" "0000569623" "00010276" "30" "1756" "0" "1756" "0" "c.1756G>A" "r.(?)" "p.(Glu586Lys)" "" "0000569624" "00010276" "30" "1729" "0" "1729" "0" "c.1729G>A" "r.(?)" "p.(Glu577Lys)" "" "0000569625" "00010276" "10" "1728" "0" "1728" "0" "c.1728C>G" "r.(?)" "p.(Pro576=)" "" "0000569626" "00010276" "50" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572Cys)" "" "0000569627" "00010276" "50" "1624" "0" "1624" "0" "c.1624C>T" "r.(?)" "p.(Arg542Cys)" "" "0000569628" "00010276" "10" "1620" "0" "1620" "0" "c.1620C>T" "r.(?)" "p.(Thr540=)" "" "0000569629" "00010276" "50" "1570" "0" "1570" "0" "c.1570G>A" "r.(?)" "p.(Val524Ile)" "" "0000569630" "00010276" "50" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Arg522Trp)" "" "0000569631" "00010276" "50" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Arg522Trp)" "" "0000569632" "00010276" "30" "1550" "0" "1550" "0" "c.1550G>A" "r.(?)" "p.(Ser517Asn)" "" "0000569633" "00010276" "30" "1539" "0" "1539" "0" "c.1539C>T" "r.(?)" "p.(Asn513=)" "" "0000569634" "00010276" "30" "1497" "0" "1497" "0" "c.1497C>A" "r.(?)" "p.(Pro499=)" "" "0000569635" "00010276" "30" "1438" "0" "1438" "0" "c.1438C>G" "r.(?)" "p.(Pro480Ala)" "" "0000569636" "00010276" "30" "1433" "0" "1433" "0" "c.1433C>T" "r.(?)" "p.(Pro478Leu)" "" "0000569637" "00010276" "10" "1424" "0" "1424" "0" "c.1424G>A" "r.(?)" "p.(Arg475His)" "" "0000569638" "00010276" "30" "1420" "0" "1420" "0" "c.1420G>A" "r.(?)" "p.(Glu474Lys)" "" "0000569639" "00010276" "30" "1395" "0" "1395" "0" "c.1395G>A" "r.(?)" "p.(Pro465=)" "" "0000569640" "00010276" "10" "1380" "0" "1380" "0" "c.1380G>A" "r.(?)" "p.(Ala460=)" "" "0000569641" "00010276" "30" "1324" "0" "1324" "0" "c.1324A>G" "r.(?)" "p.(Ile442Val)" "" "0000569642" "00010276" "30" "1317" "0" "1317" "0" "c.1317G>T" "r.(?)" "p.(Leu439=)" "" "0000569643" "00010276" "30" "1293" "0" "1293" "0" "c.1293G>A" "r.(?)" "p.(Pro431=)" "" "0000569644" "00010276" "30" "1289" "-7" "1289" "-7" "c.1289-7C>T" "r.(=)" "p.(=)" "" "0000569645" "00010276" "10" "1289" "-7" "1289" "-7" "c.1289-7C>T" "r.(=)" "p.(=)" "" "0000569646" "00010276" "30" "1289" "-9" "1289" "-9" "c.1289-9C>T" "r.(=)" "p.(=)" "" "0000569647" "00010276" "30" "1289" "-36" "1289" "-36" "c.1289-36G>C" "r.(=)" "p.(=)" "" "0000569648" "00010276" "50" "1247" "0" "1247" "0" "c.1247G>A" "r.(?)" "p.(Arg416His)" "" "0000569649" "00010276" "50" "1229" "0" "1229" "0" "c.1229del" "r.(?)" "p.(Gln410ArgfsTer98)" "" "0000569650" "00010276" "50" "1213" "0" "1213" "0" "c.1213G>T" "r.(?)" "p.(Ala405Ser)" "" "0000569651" "00010276" "70" "1213" "0" "1213" "0" "c.1213G>T" "r.(?)" "p.(Ala405Ser)" "" "0000569652" "00010276" "50" "1213" "0" "1213" "0" "c.1213G>A" "r.(?)" "p.(Ala405Thr)" "" "0000569653" "00010276" "30" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0000569654" "00010276" "50" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0000569655" "00010276" "30" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0000569656" "00010276" "50" "1180" "0" "1180" "0" "c.1180G>A" "r.(?)" "p.(Ala394Thr)" "" "0000569657" "00010276" "10" "1170" "-11" "1170" "-11" "c.1170-11T>C" "r.(=)" "p.(=)" "" "0000569658" "00010276" "30" "1170" "-11" "1170" "-11" "c.1170-11T>C" "r.(=)" "p.(=)" "" "0000569660" "00010276" "30" "1137" "0" "1137" "0" "c.1137C>A" "r.(?)" "p.(Ile379=)" "" "0000569661" "00010276" "30" "1122" "0" "1122" "0" "c.1122G>A" "r.(?)" "p.(Gln374=)" "" "0000569662" "00010276" "10" "1107" "0" "1107" "0" "c.1107T>C" "r.(?)" "p.(Ser369=)" "" "0000569663" "00010276" "50" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Arg352Cys)" "" "0000569665" "00010276" "30" "942" "0" "942" "0" "c.942C>T" "r.(?)" "p.(Tyr314=)" "" "0000569667" "00010276" "10" "856" "0" "856" "0" "c.856A>G" "r.(?)" "p.(Thr286Ala)" "" "0000569668" "00010276" "50" "856" "0" "856" "0" "c.856A>G" "r.(?)" "p.(Thr286Ala)" "" "0000569669" "00010276" "30" "856" "0" "856" "0" "c.856A>G" "r.(?)" "p.(Thr286Ala)" "" "0000569670" "00010276" "30" "856" "0" "856" "0" "c.856A>G" "r.(?)" "p.(Thr286Ala)" "" "0000569671" "00010276" "50" "847" "0" "847" "0" "c.847A>G" "r.(?)" "p.(Ile283Val)" "" "0000569672" "00010276" "10" "846" "0" "846" "0" "c.846T>C" "r.(?)" "p.(Asp282=)" "" "0000569673" "00010276" "30" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Asp274Asn)" "" "0000569674" "00010276" "30" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Asp274Asn)" "" "0000569675" "00010276" "30" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Asp274Asn)" "" "0000569676" "00010276" "30" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Gly272Asp)" "" "0000569677" "00010276" "30" "810" "0" "810" "0" "c.810C>A" "r.(?)" "p.(Ala270=)" "" "0000569679" "00010276" "30" "805" "0" "805" "0" "c.805G>T" "r.(?)" "p.(Ala269Ser)" "" "0000569680" "00010276" "30" "803" "0" "803" "0" "c.803A>C" "r.(?)" "p.(Glu268Ala)" "" "0000569681" "00010276" "30" "780" "0" "780" "0" "c.780C>T" "r.(?)" "p.(Ala260=)" "" "0000569682" "00010276" "10" "759" "0" "759" "0" "c.759C>T" "r.(?)" "p.(Leu253=)" "" "0000569683" "00010276" "50" "723" "0" "723" "0" "c.723C>G" "r.(?)" "p.(Ser241Arg)" "" "0000569684" "00010276" "30" "710" "0" "710" "0" "c.710C>T" "r.(?)" "p.(Thr237Met)" "" "0000569685" "00010276" "30" "692" "0" "692" "0" "c.692G>A" "r.(?)" "p.(Arg231Gln)" "" "0000569686" "00010276" "50" "686" "0" "686" "0" "c.686A>C" "r.(?)" "p.(Lys229Thr)" "" "0000569687" "00010276" "10" "661" "0" "661" "0" "c.661T>C" "r.(?)" "p.(Phe221Leu)" "" "0000569688" "00010276" "50" "661" "0" "661" "0" "c.661T>C" "r.(?)" "p.(Phe221Leu)" "" "0000569689" "00010276" "30" "661" "0" "661" "0" "c.661T>C" "r.(?)" "p.(Phe221Leu)" "" "0000569690" "00010276" "30" "642" "0" "642" "0" "c.642G>A" "r.(?)" "p.(Ala214=)" "" "0000569691" "00010276" "30" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Arg213Trp)" "" "0000569692" "00010276" "30" "624" "0" "624" "0" "c.624C>T" "r.(?)" "p.(Ala208=)" "" "0000569693" "00010276" "30" "624" "0" "624" "0" "c.624C>G" "r.(?)" "p.(Ala208=)" "" "0000569694" "00010276" "30" "620" "0" "620" "0" "c.620A>G" "r.(?)" "p.(Asn207Ser)" "" "0000569695" "00010276" "30" "606" "0" "606" "0" "c.606C>G" "r.(?)" "p.(Leu202=)" "" "0000569696" "00010276" "30" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Ser192Leu)" "" "0000569697" "00010276" "30" "572" "0" "572" "0" "c.572C>G" "r.(?)" "p.(Pro191Arg)" "" "0000569698" "00010276" "30" "572" "0" "572" "0" "c.572C>G" "r.(?)" "p.(Pro191Arg)" "" "0000569699" "00010276" "30" "572" "0" "572" "0" "c.572C>G" "r.(?)" "p.(Pro191Arg)" "" "0000569700" "00010276" "30" "572" "0" "572" "0" "c.572C>G" "r.(?)" "p.(Pro191Arg)" "" "0000569701" "00010276" "50" "544" "0" "544" "0" "c.544T>C" "r.(?)" "p.(Ser182Pro)" "" "0000569702" "00010276" "30" "522" "0" "522" "0" "c.522G>A" "r.(?)" "p.(Thr174=)" "" "0000569704" "00010276" "10" "456" "0" "456" "0" "c.456C>T" "r.(?)" "p.(Ala152=)" "" "0000569705" "00010276" "90" "426" "0" "427" "0" "c.426_427del" "r.(?)" "p.(Val143ThrfsTer98)" "" "0000569707" "00010276" "10" "380" "-6" "380" "-6" "c.380-6C>T" "r.(=)" "p.(=)" "" "0000569708" "00010276" "30" "380" "-9" "380" "-9" "c.380-9C>G" "r.(=)" "p.(=)" "" "0000569709" "00010276" "10" "380" "-9" "380" "-9" "c.380-9C>G" "r.(=)" "p.(=)" "" "0000569710" "00010276" "10" "379" "12" "379" "12" "c.379+12T>G" "r.(=)" "p.(=)" "" "0000569711" "00010276" "30" "327" "0" "327" "0" "c.327C>A" "r.(?)" "p.(Thr109=)" "" "0000569712" "00010276" "50" "225" "0" "225" "0" "c.225G>C" "r.(?)" "p.(Glu75Asp)" "" "0000569713" "00010276" "10" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Tyr52=)" "" "0000569714" "00010276" "10" "147" "0" "147" "0" "c.147A>G" "r.(?)" "p.(Ala49=)" "" "0000569715" "00010276" "50" "88" "0" "88" "0" "c.88A>T" "r.(?)" "p.(Thr30Ser)" "" "0000569716" "00010276" "50" "58" "0" "58" "0" "c.58G>C" "r.(?)" "p.(Gly20Arg)" "" "0000569717" "00010276" "50" "50" "0" "50" "0" "c.50G>T" "r.(?)" "p.(Gly17Val)" "" "0000569718" "00010276" "50" "8" "0" "8" "0" "c.8G>A" "r.(?)" "p.(Gly3Glu)" "" "0000569719" "00010276" "30" "5" "0" "5" "0" "c.5G>A" "r.(?)" "p.(Ser2Asn)" "" "0000569720" "00010276" "10" "-66" "0" "-66" "0" "c.-66C>T" "r.(?)" "p.(=)" "" "0000569721" "00010276" "50" "-118" "0" "-118" "0" "c.-118G>A" "r.(?)" "p.(=)" "" "0000569722" "00010276" "50" "-342" "0" "-342" "0" "c.-342T>A" "r.(?)" "p.(=)" "" "0000618125" "00010276" "10" "2093" "0" "2093" "0" "c.*2C>T" "r.(=)" "p.(=)" "" "0000618126" "00010276" "30" "2001" "0" "2006" "0" "c.2001_2006dup" "r.(?)" "p.(Val668_Glu669dup)" "" "0000618127" "00010276" "30" "1977" "0" "1977" "0" "c.1977A>G" "r.(?)" "p.(Ala659=)" "" "0000618128" "00010276" "30" "1917" "0" "1917" "0" "c.1917G>A" "r.(?)" "p.(Lys639=)" "" "0000618129" "00010276" "30" "1824" "0" "1824" "0" "c.1824G>C" "r.(?)" "p.(Thr608=)" "" "0000618130" "00010276" "30" "1816" "0" "1816" "0" "c.1816G>T" "r.(?)" "p.(Ala606Ser)" "" "0000618131" "00010276" "70" "1815" "0" "1816" "0" "c.1815_1816insA" "r.(?)" "p.(Ala606SerfsTer36)" "" "0000618132" "00010276" "50" "1809" "0" "1810" "0" "c.1809_1810insAGC" "r.(?)" "p.(Pro603_Leu604insSer)" "" "0000618133" "00010276" "50" "1690" "0" "1690" "0" "c.1690del" "r.(?)" "p.(Gln564ArgfsTer82)" "" "0000618134" "00010276" "10" "1663" "0" "1663" "0" "c.1663T>C" "r.(?)" "p.(Ser555Pro)" "" "0000618135" "00010276" "10" "1649" "0" "1649" "0" "c.1649del" "r.(?)" "p.(Ala550AspfsTer96)" "" "0000618136" "00010276" "30" "1608" "0" "1608" "0" "c.1608G>A" "r.(?)" "p.(Ala536=)" "" "0000618137" "00010276" "50" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Arg522Gln)" "" "0000618138" "00010276" "10" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Gly505Ser)" "" "0000618139" "00010276" "50" "1460" "0" "1460" "0" "c.1460C>T" "r.(?)" "p.(Pro487Leu)" "" "0000618140" "00010276" "50" "1409" "0" "1409" "0" "c.1409C>T" "r.(?)" "p.(Pro470Leu)" "" "0000618141" "00010276" "30" "1380" "0" "1380" "0" "c.1380G>A" "r.(?)" "p.(Ala460=)" "" "0000618142" "00010276" "30" "1355" "0" "1355" "0" "c.1355C>T" "r.(?)" "p.(Pro452Leu)" "" "0000618143" "00010276" "30" "1296" "0" "1296" "0" "c.1296A>G" "r.(?)" "p.(Glu432=)" "" "0000618144" "00010276" "50" "1288" "0" "1288" "0" "c.1288G>A" "r.(?)" "p.(Gly430Ser)" "" "0000618145" "00010276" "30" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0000618146" "00010276" "30" "1169" "10" "1169" "10" "c.1169+10C>T" "r.(=)" "p.(=)" "" "0000618147" "00010276" "50" "1121" "0" "1121" "0" "c.1121A>C" "r.(?)" "p.(Gln374Pro)" "" "0000618148" "00010276" "30" "1107" "0" "1107" "0" "c.1107T>C" "r.(?)" "p.(Ser369=)" "" "0000618149" "00010276" "30" "1079" "0" "1079" "0" "c.1079A>G" "r.(?)" "p.(Asn360Ser)" "" "0000618150" "00010276" "50" "1078" "0" "1078" "0" "c.1078A>G" "r.(?)" "p.(Asn360Asp)" "" "0000618151" "00010276" "30" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000618152" "00010276" "30" "782" "0" "782" "0" "c.782C>A" "r.(?)" "p.(Ala261Glu)" "" "0000618153" "00010276" "50" "772" "0" "772" "0" "c.772A>G" "r.(?)" "p.(Ser258Gly)" "" "0000618155" "00010276" "30" "648" "0" "648" "0" "c.648G>A" "r.(?)" "p.(Lys216=)" "" "0000618156" "00010276" "50" "631" "0" "631" "0" "c.631G>C" "r.(?)" "p.(Ala211Pro)" "" "0000618157" "00010276" "10" "379" "36" "379" "36" "c.379+36A>G" "r.(=)" "p.(=)" "" "0000618158" "00010276" "50" "341" "0" "341" "0" "c.341T>C" "r.(?)" "p.(Leu114Pro)" "" "0000618159" "00010276" "30" "289" "0" "289" "0" "c.289C>A" "r.(?)" "p.(Arg97=)" "" "0000618160" "00010276" "50" "246" "0" "246" "0" "c.246C>A" "r.(?)" "p.(Tyr82Ter)" "" "0000618161" "00010276" "50" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Gly71Glu)" "" "0000618162" "00010276" "50" "8" "0" "8" "0" "c.8G>A" "r.(?)" "p.(Gly3Glu)" "" "0000624159" "00010276" "30" "1606" "0" "1606" "0" "c.1606G>A" "r.(?)" "p.(Ala536Thr)" "" "0000650785" "00010276" "10" "1289" "-7" "1289" "-7" "c.1289-7C>T" "r.(=)" "p.(=)" "" "0000658764" "00010276" "50" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Gly117Asp)" "" "0000658765" "00010276" "10" "183" "0" "183" "0" "c.183G>A" "r.(?)" "p.(Glu61=)" "" "0000681608" "00010276" "10" "1992" "0" "1992" "0" "c.1992G>A" "r.(?)" "p.(Ala664=)" "" "0000681609" "00010276" "10" "1824" "0" "1824" "0" "c.1824G>A" "r.(?)" "p.(Thr608=)" "" "0000681610" "00010276" "50" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Arg522Trp)" "" "0000681611" "00010276" "50" "1464" "0" "1465" "0" "c.1464_1465insAGCTT" "r.(?)" "p.(Gly489SerfsTer21)" "" "0000681612" "00010276" "30" "1443" "0" "1443" "0" "c.1443G>A" "r.(?)" "p.(Glu481=)" "" "0000681613" "00010276" "50" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Ala380Val)" "" "0000681614" "00010276" "10" "780" "0" "780" "0" "c.780C>T" "r.(?)" "p.(Ala260=)" "" "0000681615" "00010276" "50" "598" "0" "598" "0" "c.598T>G" "r.(?)" "p.(Phe200Val)" "" "0000681616" "00010276" "30" "598" "0" "598" "0" "c.598T>C" "r.(?)" "p.(Phe200Leu)" "" "0000692980" "00010276" "30" "1852" "0" "1852" "0" "c.1852A>G" "r.(?)" "p.(Thr618Ala)" "" "0000692981" "00010276" "30" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Ala595Thr)" "" "0000692982" "00010276" "30" "1671" "0" "1671" "0" "c.1671G>A" "r.(?)" "p.(Glu557=)" "" "0000692983" "00010276" "50" "1082" "0" "1082" "0" "c.1082A>G" "r.(?)" "p.(Lys361Arg)" "" "0000704369" "00010276" "50" "1502" "0" "1502" "0" "c.1502T>G" "r.(?)" "p.(Val501Gly)" "" "0000727686" "00010276" "10" "1974" "0" "1974" "0" "c.1974C>T" "r.(?)" "p.(Ala658=)" "" "0000727687" "00010276" "30" "1689" "0" "1689" "0" "c.1689C>T" "r.(?)" "p.(Tyr563=)" "" "0000727688" "00010276" "30" "1658" "0" "1658" "0" "c.1658C>T" "r.(?)" "p.(Ala553Val)" "" "0000727689" "00010276" "50" "1551" "0" "1551" "0" "c.1551C>A" "r.(?)" "p.(Ser517Arg)" "" "0000727690" "00010276" "90" "1281" "0" "1281" "0" "c.1281C>A" "r.(?)" "p.(Tyr427*)" "" "0000727691" "00010276" "30" "856" "0" "856" "0" "c.856A>G" "r.(?)" "p.(Thr286Ala)" "" "0000727692" "00010276" "50" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Pro193Leu)" "" "0000727693" "00010276" "50" "145" "0" "145" "0" "c.145G>A" "r.(?)" "p.(Ala49Thr)" "" "0000809251" "00010276" "30" "1794" "0" "1794" "0" "c.1794C>A" "r.(?)" "p.(Ser598=)" "" "0000809252" "00010276" "30" "1581" "0" "1581" "0" "c.1581C>G" "r.(?)" "p.(Ser527=)" "" "0000809253" "00010276" "30" "1357" "0" "1357" "0" "c.1357C>T" "r.(?)" "p.(Pro453Ser)" "" "0000855840" "00010276" "10" "1671" "0" "1671" "0" "c.1671G>A" "r.(?)" "p.(Glu557=)" "" "0000855841" "00010276" "50" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Arg522Trp)" "" "0000855842" "00010276" "30" "1394" "0" "1394" "0" "c.1394C>A" "r.(?)" "p.(Pro465Gln)" "" "0000855843" "00010276" "30" "1233" "0" "1233" "0" "c.1233G>A" "r.(?)" "p.(Glu411=)" "" "0000855844" "00010276" "50" "922" "0" "922" "0" "c.922C>A" "r.(?)" "p.(Arg308Ser)" "" "0000855845" "00010276" "30" "783" "0" "783" "0" "c.783G>C" "r.(?)" "p.(Ala261=)" "" "0000855846" "00010276" "30" "637" "0" "637" "0" "c.637C>G" "r.(?)" "p.(Arg213Gly)" "" "0000866461" "00010276" "50" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Gly339Ser)" "" "0000866462" "00010276" "50" "707" "0" "707" "0" "c.707G>A" "r.(?)" "p.(Arg236His)" "" "0000895307" "00010276" "50" "2105" "1" "2105" "1" "c.*14+1G>A" "r.spl?" "p.?" "" "0000895308" "00010276" "30" "2013" "0" "2013" "0" "c.2013C>G" "r.(?)" "p.(Val671=)" "" "0000895309" "00010276" "50" "2011" "0" "2011" "0" "c.2011G>A" "r.(?)" "p.(Val671Ile)" "" "0000895310" "00010276" "50" "1790" "0" "1790" "0" "c.1790C>T" "r.(?)" "p.(Ser597Leu)" "" "0000895311" "00010276" "50" "1658" "0" "1658" "0" "c.1658C>T" "r.(?)" "p.(Ala553Val)" "" "0000895312" "00010276" "30" "1658" "0" "1658" "0" "c.1658C>T" "r.(?)" "p.(Ala553Val)" "" "0000895313" "00010276" "50" "1419" "0" "1419" "0" "c.1419C>G" "r.(?)" "p.(His473Gln)" "" "0000895314" "00010276" "50" "1324" "0" "1324" "0" "c.1324A>G" "r.(?)" "p.(Ile442Val)" "" "0000895315" "00010276" "30" "1289" "-9" "1289" "-9" "c.1289-9C>T" "r.(=)" "p.(=)" "" "0000895316" "00010276" "10" "1131" "0" "1131" "0" "c.1131T>A" "r.(?)" "p.(Ala377=)" "" "0000895317" "00010276" "50" "1105" "0" "1105" "0" "c.1105A>C" "r.(?)" "p.(Ser369Arg)" "" "0000895318" "00010276" "50" "980" "0" "980" "0" "c.980G>A" "r.(?)" "p.(Gly327Asp)" "" "0000895319" "00010276" "50" "976" "0" "976" "0" "c.976T>C" "r.(?)" "p.(Tyr326His)" "" "0000895320" "00010276" "50" "975" "0" "975" "0" "c.975C>A" "r.(?)" "p.(Gly325=)" "" "0000895321" "00010276" "50" "969" "0" "970" "0" "c.969_970dup" "r.(?)" "p.(His324Profs*185)" "" "0000895322" "00010276" "30" "819" "0" "819" "0" "c.819C>A" "r.(?)" "p.(Ala273=)" "" "0000895323" "00010276" "30" "810" "0" "810" "0" "c.810C>A" "r.(?)" "p.(Ala270=)" "" "0000895324" "00010276" "30" "661" "0" "661" "0" "c.661T>C" "r.(?)" "p.(Phe221Leu)" "" "0000895325" "00010276" "30" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Arg213Trp)" "" "0000895326" "00010276" "10" "363" "0" "363" "0" "c.363G>A" "r.(?)" "p.(Glu121=)" "" "0000895327" "00010276" "50" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Gln98Arg)" "" "0000915368" "00010276" "10" "1289" "-34" "1289" "-34" "c.1289-34G>T" "r.(=)" "p.(=)" "" "0000915369" "00010276" "30" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Pro188Ser)" "" "0000915370" "00010276" "10" "379" "36" "379" "36" "c.379+36A>G" "r.(=)" "p.(=)" "" "0000927004" "00010276" "50" "1896" "0" "1896" "0" "c.1896G>C" "r.(?)" "p.(Glu632Asp)" "" "0000927005" "00010276" "50" "1759" "0" "1764" "0" "c.1759_1764del" "r.(?)" "p.(Pro587_Glu588del)" "" "0000927006" "00010276" "50" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572Cys)" "" "0000927007" "00010276" "50" "1604" "0" "1604" "0" "c.1604C>T" "r.(?)" "p.(Pro535Leu)" "" "0000927008" "00010276" "50" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Gly304Cys)" "" "0000931170" "00010276" "30" "1808" "0" "1808" "0" "c.1808C>T" "r.(?)" "p.(Pro603Leu)" "" "0000931171" "00010276" "10" "380" "-9" "380" "-9" "c.380-9C>G" "r.(=)" "p.(=)" "" "0000951434" "00010276" "10" "2013" "0" "2013" "0" "c.2013C>G" "r.(?)" "p.(Val671=)" "" "0000951435" "00010276" "10" "1137" "0" "1137" "0" "c.1137C>A" "r.(?)" "p.(Ile379=)" "" "0000951436" "00010276" "30" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Arg213Trp)" "" "0000957814" "00010276" "50" "856" "0" "856" "0" "c.856A>G" "r.(?)" "p.(Thr286Ala)" "" "0000970146" "00010276" "30" "1977" "0" "1977" "0" "c.1977A>G" "r.(?)" "p.(Ala659=)" "" "0000970147" "00010276" "50" "1690" "0" "1690" "0" "c.1690C>T" "r.(?)" "p.(Gln564*)" "" "0000970148" "00010276" "50" "1582" "0" "1582" "0" "c.1582G>A" "r.(?)" "p.(Glu528Lys)" "" "0000970149" "00010276" "50" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Ser508Asn)" "" "0000970150" "00010276" "10" "780" "0" "780" "0" "c.780C>T" "r.(?)" "p.(Ala260=)" "" "0000970151" "00010276" "50" "723" "0" "723" "0" "c.723C>G" "r.(?)" "p.(Ser241Arg)" "" "0000970152" "00010276" "30" "723" "0" "723" "0" "c.723C>G" "r.(?)" "p.(Ser241Arg)" "" "0000970153" "00010276" "10" "213" "0" "213" "0" "c.213G>A" "r.(?)" "p.(=)" "" "0000983804" "00010276" "50" "517" "0" "517" "0" "c.517G>T" "r.(?)" "p.(Gly173Cys)" "" "0000989407" "00010276" "50" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Cys328Tyr)" "" "0000989506" "00010276" "50" "511" "0" "516" "0" "c.511_516dup" "r.(?)" "p.(Ser171_Asn172dup)" "" "0000989697" "00010276" "50" "1750" "0" "1750" "0" "c.1750C>A" "r.(?)" "p.(Gln584Lys)" "" "0001005399" "00010276" "10" "861" "0" "861" "0" "c.861C>T" "r.(?)" "p.(=)" "" "0001005400" "00010276" "50" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0001005401" "00010276" "50" "810" "0" "830" "0" "c.810_830del" "r.(?)" "p.(Glu271_Ala277del)" "" "0001005402" "00010276" "10" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(=)" "" "0001005403" "00010276" "50" "338" "0" "338" "0" "c.338G>T" "r.(?)" "p.(Gly113Val)" "" "0001005404" "00010276" "50" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Arg)" "" "0001005405" "00010276" "30" "-4" "0" "-4" "0" "c.-4T>A" "r.(?)" "p.(=)" "" "0001015862" "00010276" "50" "517" "0" "517" "0" "c.517G>T" "r.(?)" "p.(Gly173Cys)" "" "0001027312" "00010276" "50" "1715" "0" "1715" "0" "c.1715G>C" "r.(?)" "p.(Arg572Pro)" "" "0001027313" "00010276" "50" "1309" "0" "1309" "0" "c.1309C>T" "r.(?)" "p.(Arg437Trp)" "" "0001027314" "00010276" "50" "1246" "0" "1246" "0" "c.1246C>T" "r.(?)" "p.(Arg416Cys)" "" "0001027315" "00010276" "30" "1170" "-11" "1170" "-11" "c.1170-11T>C" "r.(=)" "p.(=)" "" "0001027316" "00010276" "50" "829" "0" "829" "0" "c.829G>T" "r.(?)" "p.(Ala277Ser)" "" "0001027317" "00010276" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Pro158Ser)" "" "0001027318" "00010276" "50" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.(Gly108Ser)" "" "0001043349" "00010276" "30" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Ala189Thr)" "" "0001043350" "00010276" "10" "380" "-6" "380" "-6" "c.380-6C>T" "r.(=)" "p.(=)" "" "0001043351" "00010276" "10" "379" "8348" "379" "8348" "c.379+8348C>G" "r.(=)" "p.(=)" "" "0001046774" "00010276" "50" "1126" "0" "1126" "0" "c.1126G>T" "r.(?)" "p.(Ala376Ser)" "" "0001046775" "00010276" "50" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Asp333Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000016262" "0000036015" "0000129227" "0000218360" "0000129236" "0000218377" "0000129238" "0000218379" "0000129249" "0000218395" "0000129251" "0000218397" "0000240294" "0000484330" "0000240295" "0000484331" "0000240296" "0000484332" "0000240297" "0000484335" "0000240298" "0000484336" "0000240299" "0000484337" "0000294096" "0000650785" "0000321496" "0000704369" "0000448407" "0000957814" "0000454796" "0000989697"