### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZFYVE26) # 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}}" "ZFYVE26" "zinc finger, FYVE domain containing 26" "14" "q23.3" "unknown" "NG_011836.1" "UD_132118461349" "" "https://www.LOVD.nl/ZFYVE26" "" "1" "20761" "23503" "612012" "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/ZFYVE26_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-03-09 11:05:27" "00000" "2026-01-20 18:57:21" ## 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}}" "00023172" "ZFYVE26" "zinc finger, FYVE domain containing 26" "001" "NM_015346.3" "" "NP_056161.2" "" "" "" "-139" "9536" "7620" "68283306" "68213237" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02077" "SPG15" "paraplegia, spastic, type 15 (SPG-15)" "AR" "270700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ZFYVE26" "02077" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00154961" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00291096" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291097" "" "" "" "23" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291098" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291099" "" "" "" "86" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291101" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304440" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304441" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304442" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00318006" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR212" "00374538" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2656" "00374882" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1668" "00443411" "" "" "" "4" "" "00006" "{PMID:Saadi 2023:37510308}" "5-generation family, 4 affected (2F, 2M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamAPatIV2" "00443412" "" "" "00443411" "1" "" "00006" "{PMID:Saadi 2023:37510308}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "FamAPatIV3" "00443413" "" "" "00443411" "1" "" "00006" "{PMID:Saadi 2023:37510308}" "nephew" "F" "yes" "Pakistan" "" "0" "" "" "" "FamAPatV1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00154961" "00198" "00291096" "00198" "00291097" "00198" "00291098" "00198" "00291099" "00198" "00291101" "00198" "00304440" "00198" "00304441" "00198" "00304442" "00198" "00318006" "00139" "00374538" "00198" "00374882" "00198" "00443411" "00198" "00443412" "00198" "00443413" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02077 ## Count = 7 "{{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}}" "0000127693" "00198" "00154961" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "0000241790" "00139" "00318006" "00006" "Familial, autosomal recessive" "" "Mild to moderate ID, spasticity, progressive muscular weakness and ID started at 13 years of age." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269748" "00198" "00374538" "00006" "Familial, autosomal recessive" "" "Progressive spasticity of lower limbs" "" "" "" "" "" "" "" "" "" "spasticity" "" "0000270092" "00198" "00374882" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "spasticity" "" "0000332752" "00198" "00443411" "00006" "Familial, autosomal recessive" "28y" "no ambulation, intellectual disability, muscle atrophy, dysarthria" "" "" "" "" "" "" "" "" "SPG15" "spastic paraplegia" "" "0000332753" "00198" "00443412" "00006" "Familial, autosomal recessive" "18y" "ataxic gait, intellectual disability, muscle atrophy, dysarthria, hip dysplasia" "" "" "" "" "" "" "" "" "SPG15" "spastic paraplegia" "" "0000332754" "00198" "00443413" "00006" "Familial, autosomal recessive" "15y" "ataxic gait, intellectual disability, muscle atrophy" "" "" "" "" "" "" "" "" "SPG15" "spastic paraplegia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000155823" "00154961" "0" "01807" "01807" "2018-03-07 04:00:33" "" "" "SEQ" "DNA" "" "" "0000292264" "00291096" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292265" "00291097" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292266" "00291098" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292267" "00291099" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292269" "00291101" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305569" "00304440" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305570" "00304441" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305571" "00304442" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000319188" "00318006" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000375732" "00374538" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376076" "00374882" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000444900" "00443411" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444901" "00443412" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444902" "00443413" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000319188" "ZFYVE26" "0000375732" "ZFYVE26" "0000376076" "ZFYVE26" ## 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 = 207 "{{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}}" "0000254274" "0" "30" "14" "68252919" "68252919" "subst" "0.000698517" "01943" "ZFYVE26_000024" "g.68252919A>G" "" "" "" "ZFYVE26(NM_015346.3):c.3051T>C (p.A1017=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67786202A>G" "" "likely benign" "" "0000254453" "0" "30" "14" "68244858" "68244858" "subst" "0" "01943" "ZFYVE26_000016" "g.68244858A>G" "" "" "" "ZFYVE26(NM_015346.3):c.4782T>C (p.H1594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67778141A>G" "" "likely benign" "" "0000313139" "0" "90" "14" "68260934" "68260934" "del" "0" "02325" "ZFYVE26_000029" "g.68260934del" "" "" "" "ZFYVE26(NM_015346.4):c.2357delC (p.P786Hfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67794217del" "" "pathogenic" "" "0000313140" "0" "10" "14" "68249499" "68249499" "subst" "0.261912" "02325" "ZFYVE26_000018" "g.68249499C>T" "" "" "" "ZFYVE26(NM_015346.4):c.4370G>A (p.C1457Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67782782C>T" "" "benign" "" "0000313141" "0" "30" "14" "68244396" "68244396" "subst" "0.00246481" "02325" "ZFYVE26_000015" "g.68244396G>A" "" "" "" "ZFYVE26(NM_015346.3):c.4854C>T (p.L1618=), ZFYVE26(NM_015346.4):c.4854C>T (p.(Leu1618=), p.L1618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67777679G>A" "" "likely benign" "" "0000313142" "0" "10" "14" "68236522" "68236522" "subst" "0" "02325" "ZFYVE26_000012" "g.68236522G>A" "" "" "" "ZFYVE26(NM_015346.4):c.5485-75C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67769805G>A" "" "benign" "" "0000313143" "0" "10" "14" "68234539" "68234539" "subst" "0.955064" "02325" "ZFYVE26_000011" "g.68234539T>C" "" "" "" "ZFYVE26(NM_015346.4):c.5672A>G (p.N1891S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67767822T>C" "" "benign" "" "0000315537" "0" "90" "14" "68271944" "68271944" "subst" "0" "02326" "ZFYVE26_000031" "g.68271944G>A" "" "" "" "ZFYVE26(NM_015346.3):c.1261C>T (p.Q421*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67805227G>A" "" "pathogenic" "" "0000315538" "0" "10" "14" "68256245" "68256245" "subst" "0.00836829" "02326" "ZFYVE26_000027" "g.68256245C>T" "" "" "" "ZFYVE26(NM_015346.3):c.2826G>A (p.M942I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67789528C>T" "" "benign" "" "0000315539" "0" "10" "14" "68256184" "68256184" "subst" "0.00770251" "02326" "ZFYVE26_000025" "g.68256184C>G" "" "" "" "ZFYVE26(NM_015346.3):c.2887G>C (p.(Val963Leu), p.V963L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67789467C>G" "" "benign" "" "0000315540" "0" "90" "14" "68252830" "68252830" "subst" "3.24897E-5" "02326" "ZFYVE26_000023" "g.68252830C>T" "" "" "" "ZFYVE26(NM_015346.3):c.3139+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67786113C>T" "" "pathogenic" "" "0000315541" "0" "30" "14" "68219200" "68219200" "subst" "0.0304556" "02326" "ZFYVE26_000003" "g.68219200C>T" "" "" "" "ZFYVE26(NM_015346.3):c.7232G>A (p.R2411H), ZFYVE26(NM_015346.4):c.7232G>A (p.(Arg2411His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67752483C>T" "" "likely benign" "" "0000320165" "0" "50" "14" "68272021" "68272021" "subst" "0.00347685" "01943" "ZFYVE26_000032" "g.68272021C>A" "" "" "" "ZFYVE26(NM_015346.3):c.1184G>T (p.G395V, p.(Gly395Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67805304C>A" "" "VUS" "" "0000320166" "0" "30" "14" "68265046" "68265046" "subst" "0.00536149" "01943" "ZFYVE26_000030" "g.68265046T>C" "" "" "" "ZFYVE26(NM_015346.3):c.1933A>G (p.M645V, p.(Met645Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67798329T>C" "" "likely benign" "" "0000320167" "0" "50" "14" "68257459" "68257459" "subst" "0.000150268" "01943" "ZFYVE26_000028" "g.68257459G>C" "" "" "" "ZFYVE26(NM_015346.3):c.2585C>G (p.P862R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67790742G>C" "" "VUS" "" "0000320168" "0" "30" "14" "68256218" "68256218" "subst" "6.11112E-5" "01943" "ZFYVE26_000026" "g.68256218C>T" "" "" "" "ZFYVE26(NM_015346.3):c.2853G>A (p.T951=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67789501C>T" "" "likely benign" "" "0000320169" "0" "30" "14" "68250147" "68250147" "subst" "0.00314407" "01943" "ZFYVE26_000022" "g.68250147C>T" "" "" "" "ZFYVE26(NM_015346.3):c.3722G>A (p.R1241Q, p.(Arg1241Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67783430C>T" "" "likely benign" "" "0000320170" "0" "30" "14" "68249672" "68249672" "subst" "0.00225891" "01943" "ZFYVE26_000021" "g.68249672G>A" "" "" "" "ZFYVE26(NM_015346.3):c.4197C>T (p.T1399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67782955G>A" "" "likely benign" "" "0000320171" "0" "50" "14" "68249560" "68249560" "subst" "1.21884E-5" "01943" "ZFYVE26_000019" "g.68249560C>T" "" "" "" "ZFYVE26(NM_015346.3):c.4309G>A (p.G1437R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67782843C>T" "" "VUS" "" "0000320172" "0" "30" "14" "68244906" "68244906" "subst" "0.000982845" "01943" "ZFYVE26_000017" "g.68244906G>A" "" "" "" "ZFYVE26(NM_015346.3):c.4734C>T (p.I1578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67778189G>A" "" "likely benign" "" "0000320173" "0" "30" "14" "68244396" "68244396" "subst" "0.00246481" "01943" "ZFYVE26_000015" "g.68244396G>A" "" "" "" "ZFYVE26(NM_015346.3):c.4854C>T (p.L1618=), ZFYVE26(NM_015346.4):c.4854C>T (p.(Leu1618=), p.L1618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67777679G>A" "" "likely benign" "" "0000320174" "0" "50" "14" "68242582" "68242582" "subst" "0.000349483" "01943" "ZFYVE26_000014" "g.68242582C>A" "" "" "" "ZFYVE26(NM_015346.3):c.5216G>T (p.R1739L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67775865C>A" "" "VUS" "" "0000320175" "0" "30" "14" "68241793" "68241793" "subst" "0.000382493" "01943" "ZFYVE26_000013" "g.68241793C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5260G>A (p.A1754T, p.(Ala1754Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67775076C>T" "" "likely benign" "" "0000320176" "0" "50" "14" "68234444" "68234444" "subst" "3.65619E-5" "01943" "ZFYVE26_000010" "g.68234444G>A" "" "" "" "ZFYVE26(NM_015346.3):c.5767C>T (p.R1923W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67767727G>A" "" "VUS" "" "0000320177" "0" "30" "14" "68274408" "68274408" "subst" "2.8462E-5" "01943" "ZFYVE26_000035" "g.68274408C>T" "" "" "" "ZFYVE26(NM_015346.3):c.593G>A (p.R198Q), ZFYVE26(NM_015346.4):c.593G>A (p.(Arg198Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67807691C>T" "" "likely benign" "" "0000320178" "0" "50" "14" "68229394" "68229394" "subst" "0.000203262" "01943" "ZFYVE26_000009" "g.68229394C>T" "" "" "" "ZFYVE26(NM_015346.3):c.6154G>A (p.V2052I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67762677C>T" "" "VUS" "" "0000320179" "0" "30" "14" "68229100" "68229100" "subst" "2.85105E-5" "01943" "ZFYVE26_000008" "g.68229100G>A" "" "" "" "ZFYVE26(NM_015346.3):c.6189C>T (p.T2063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67762383G>A" "" "likely benign" "" "0000320180" "0" "50" "14" "68222822" "68222822" "subst" "8.12242E-6" "01943" "ZFYVE26_000007" "g.68222822G>C" "" "" "" "ZFYVE26(NM_015346.3):c.6629C>G (p.P2210R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67756105G>C" "" "VUS" "" "0000320181" "0" "10" "14" "68221935" "68221935" "subst" "0.000832765" "01943" "ZFYVE26_000006" "g.68221935C>T" "" "" "" "ZFYVE26(NM_015346.3):c.6819G>A (p.R2273=), ZFYVE26(NM_015346.4):c.6819G>A (p.(Arg2273=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67755218C>T" "" "benign" "" "0000320182" "0" "30" "14" "68221905" "68221905" "subst" "0.000613253" "01943" "ZFYVE26_000005" "g.68221905T>C" "" "" "" "ZFYVE26(NM_015346.3):c.6849A>G (p.T2283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67755188T>C" "" "likely benign" "" "0000320183" "0" "30" "14" "68220861" "68220861" "subst" "0.00301334" "01943" "ZFYVE26_000004" "g.68220861G>A" "" "" "" "ZFYVE26(NM_015346.3):c.7055C>T (p.T2352I), ZFYVE26(NM_015346.4):c.7055C>T (p.(Thr2352Ile), p.T2352I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67754144G>A" "" "likely benign" "" "0000320184" "0" "50" "14" "68219058" "68219058" "subst" "2.97086E-5" "01943" "ZFYVE26_000002" "g.68219058T>C" "" "" "" "ZFYVE26(NM_015346.3):c.7371+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67752341T>C" "" "VUS" "" "0000320185" "0" "10" "14" "68274253" "68274253" "subst" "0.00199111" "01943" "ZFYVE26_000034" "g.68274253C>T" "" "" "" "ZFYVE26(NM_015346.3):c.748G>A (p.E250K, p.(Glu250Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67807536C>T" "" "benign" "" "0000320186" "0" "30" "14" "68215240" "68215240" "subst" "0.00123502" "01943" "ZFYVE26_000001" "g.68215240G>A" "" "" "" "ZFYVE26(NM_015346.3):c.7533C>T (p.S2511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67748523G>A" "" "likely benign" "" "0000320187" "0" "30" "14" "68273292" "68273292" "subst" "7.30935E-5" "01943" "ZFYVE26_000033" "g.68273292G>A" "" "" "" "ZFYVE26(NM_015346.3):c.987C>T (p.S329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67806575G>A" "" "likely benign" "" "0000323737" "0" "50" "14" "68249576" "68249576" "subst" "0.000129995" "01804" "ZFYVE26_000020" "g.68249576C>G" "" "" "" "ZFYVE26(NM_015346.3):c.4293G>C (p.Q1431H, p.(Gln1431His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67782859C>G" "" "VUS" "" "0000323738" "0" "50" "14" "68275919" "68275919" "subst" "0.000121882" "01804" "ZFYVE26_000036" "g.68275919C>T" "" "" "" "ZFYVE26(NM_015346.3):c.361G>A (p.E121K, p.(Glu121Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67809202C>T" "" "VUS" "" "0000338618" "0" "10" "14" "68220932" "68220932" "subst" "0.0067847" "02327" "ZFYVE26_000038" "g.68220932G>A" "" "" "" "ZFYVE26(NM_015346.3):c.6987-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67754215G>A" "" "benign" "" "0000338619" "0" "10" "14" "68260877" "68260877" "subst" "0.00228618" "02327" "ZFYVE26_000053" "g.68260877A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67794160A>T" "" "benign" "" "0000338620" "0" "10" "14" "68282750" "68282750" "subst" "0" "02327" "ZFYVE26_000057" "g.68282750T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67816033T>A" "" "benign" "" "0000340377" "0" "50" "14" "68220875" "68220875" "subst" "0.000117784" "02327" "ZFYVE26_000037" "g.68220875G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67754158G>A" "" "VUS" "" "0000340378" "0" "30" "14" "68228266" "68228266" "subst" "0.0057618" "02327" "ZFYVE26_000039" "g.68228266C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67761549C>T" "" "likely benign" "" "0000340379" "0" "30" "14" "68244906" "68244906" "subst" "0.000982845" "02327" "ZFYVE26_000017" "g.68244906G>A" "" "" "" "ZFYVE26(NM_015346.3):c.4734C>T (p.I1578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67778189G>A" "" "likely benign" "" "0000340380" "0" "10" "14" "68250112" "68250112" "subst" "0.0123927" "02327" "ZFYVE26_000045" "g.68250112G>A" "" "" "" "ZFYVE26(NM_015346.4):c.3757C>T (p.(Leu1253=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67783395G>A" "" "benign" "" "0000340381" "0" "10" "14" "68252669" "68252669" "subst" "0.0242956" "02327" "ZFYVE26_000048" "g.68252669G>C" "" "" "" "ZFYVE26(NM_015346.4):c.3210C>G (p.(Pro1070=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67785952G>C" "" "benign" "" "0000340382" "0" "10" "14" "68257485" "68257485" "subst" "0.145356" "02327" "ZFYVE26_000051" "g.68257485C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67790768C>T" "" "benign" "" "0000340383" "0" "10" "14" "68264867" "68264867" "subst" "0.715607" "02327" "ZFYVE26_000054" "g.68264867A>G" "" "" "" "ZFYVE26(NM_015346.4):c.2112T>C (p.P704=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67798150A>G" "" "benign" "" "0000341120" "0" "10" "14" "68251934" "68251934" "subst" "0.0243057" "02327" "ZFYVE26_000046" "g.68251934G>A" "" "" "" "ZFYVE26(NM_015346.3):c.3365C>T (p.(Ala1122Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67785217G>A" "" "benign" "" "0000341275" "0" "50" "14" "68274339" "68274339" "subst" "8.12803E-6" "02327" "ZFYVE26_000056" "g.68274339G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67807622G>C" "" "VUS" "" "0000341812" "0" "30" "14" "68250147" "68250147" "subst" "0.00314407" "02327" "ZFYVE26_000022" "g.68250147C>T" "" "" "" "ZFYVE26(NM_015346.3):c.3722G>A (p.R1241Q, p.(Arg1241Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67783430C>T" "" "likely benign" "" "0000342378" "0" "30" "14" "68219200" "68219200" "subst" "0.0304556" "02327" "ZFYVE26_000003" "g.68219200C>T" "" "" "" "ZFYVE26(NM_015346.3):c.7232G>A (p.R2411H), ZFYVE26(NM_015346.4):c.7232G>A (p.(Arg2411His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67752483C>T" "" "likely benign" "" "0000343634" "0" "10" "14" "68234539" "68234539" "subst" "0.955064" "02327" "ZFYVE26_000011" "g.68234539T>C" "" "" "" "ZFYVE26(NM_015346.4):c.5672A>G (p.N1891S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67767822T>C" "" "benign" "" "0000344276" "0" "10" "14" "68249499" "68249499" "subst" "0.261912" "02327" "ZFYVE26_000018" "g.68249499C>T" "" "" "" "ZFYVE26(NM_015346.4):c.4370G>A (p.C1457Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67782782C>T" "" "benign" "" "0000344292" "0" "30" "14" "68236320" "68236320" "subst" "0.00996599" "02327" "ZFYVE26_000042" "g.68236320C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5612G>A (p.(Cys1871Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67769603C>T" "" "likely benign" "" "0000344556" "0" "50" "14" "68249576" "68249576" "subst" "0.000129995" "02327" "ZFYVE26_000020" "g.68249576C>G" "" "" "" "ZFYVE26(NM_015346.3):c.4293G>C (p.Q1431H, p.(Gln1431His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67782859C>G" "" "VUS" "" "0000347907" "0" "50" "14" "68260392" "68260392" "subst" "0" "02327" "ZFYVE26_000052" "g.68260392A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67793675A>G" "" "VUS" "" "0000347914" "0" "10" "14" "68256245" "68256245" "subst" "0.00836829" "02327" "ZFYVE26_000027" "g.68256245C>T" "" "" "" "ZFYVE26(NM_015346.3):c.2826G>A (p.M942I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67789528C>T" "" "benign" "" "0000348135" "0" "10" "14" "68251991" "68251991" "subst" "0.030049" "02327" "ZFYVE26_000047" "g.68251991G>A" "" "" "" "ZFYVE26(NM_015346.3):c.3308C>T (p.(Pro1103Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67785274G>A" "" "benign" "" "0000348641" "0" "10" "14" "68252852" "68252852" "subst" "0.0495208" "02327" "ZFYVE26_000049" "g.68252852A>T" "" "" "" "ZFYVE26(NM_015346.3):c.3118T>A (p.S1040T), ZFYVE26(NM_015346.4):c.3118T>A (p.(Ser1040Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67786135A>T" "" "benign" "" "0000349121" "0" "30" "14" "68265135" "68265135" "subst" "0.00922772" "02327" "ZFYVE26_000055" "g.68265135G>A" "" "" "" "ZFYVE26(NM_015346.3):c.1844C>T (p.(Ser615Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67798418G>A" "" "likely benign" "" "0000349651" "0" "10" "14" "68257352" "68257352" "subst" "0.0922728" "02327" "ZFYVE26_000050" "g.68257352T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67790635T>A" "" "benign" "" "0000350300" "0" "50" "14" "68248217" "68248217" "subst" "4.07388E-5" "02327" "ZFYVE26_000044" "g.68248217C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67781500C>T" "" "VUS" "" "0000350696" "0" "30" "14" "68256184" "68256184" "subst" "0.00770251" "02327" "ZFYVE26_000025" "g.68256184C>G" "" "" "" "ZFYVE26(NM_015346.3):c.2887G>C (p.(Val963Leu), p.V963L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67789467C>G" "" "likely benign" "" "0000356904" "3" "90" "14" "68264458" "68264458" "subst" "0" "01807" "ZFYVE26_000037" "g.68264458G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.67797741G>A" "" "pathogenic" "" "0000552879" "0" "10" "14" "68215187" "68215187" "subst" "0.00115435" "01943" "ZFYVE26_000058" "g.68215187G>C" "" "" "" "ZFYVE26(NM_015346.3):c.7586C>G (p.P2529R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67748470G>C" "" "benign" "" "0000552880" "0" "30" "14" "68215361" "68215361" "subst" "0.00568556" "01804" "ZFYVE26_000059" "g.68215361C>G" "" "" "" "ZFYVE26(NM_015346.4):c.7417-5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67748644C>G" "" "likely benign" "" "0000552881" "0" "30" "14" "68219078" "68219078" "subst" "0" "01943" "ZFYVE26_000060" "g.68219078T>C" "" "" "" "ZFYVE26(NM_015346.3):c.7354A>G (p.K2452E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67752361T>C" "" "likely benign" "" "0000552882" "0" "30" "14" "68219126" "68219126" "subst" "0" "01804" "ZFYVE26_000061" "g.68219126C>T" "" "" "" "ZFYVE26(NM_015346.3):c.7306G>A (p.(Ala2436Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67752409C>T" "" "likely benign" "" "0000552883" "0" "10" "14" "68219200" "68219200" "subst" "0.0304556" "01804" "ZFYVE26_000003" "g.68219200C>T" "" "" "" "ZFYVE26(NM_015346.3):c.7232G>A (p.R2411H), ZFYVE26(NM_015346.4):c.7232G>A (p.(Arg2411His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67752483C>T" "" "benign" "" "0000552884" "0" "30" "14" "68220784" "68220784" "subst" "6.90726E-5" "01943" "ZFYVE26_000062" "g.68220784G>A" "" "" "" "ZFYVE26(NM_015346.3):c.7128+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67754067G>A" "" "likely benign" "" "0000552885" "0" "30" "14" "68220861" "68220861" "subst" "0.00301334" "02325" "ZFYVE26_000004" "g.68220861G>A" "" "" "" "ZFYVE26(NM_015346.3):c.7055C>T (p.T2352I), ZFYVE26(NM_015346.4):c.7055C>T (p.(Thr2352Ile), p.T2352I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67754144G>A" "" "likely benign" "" "0000552886" "0" "30" "14" "68220932" "68220932" "subst" "0.0067847" "01804" "ZFYVE26_000038" "g.68220932G>A" "" "" "" "ZFYVE26(NM_015346.3):c.6987-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67754215G>A" "" "likely benign" "" "0000552887" "0" "30" "14" "68221965" "68221965" "subst" "4.87535E-5" "01943" "ZFYVE26_000063" "g.68221965G>A" "" "" "" "ZFYVE26(NM_015346.3):c.6789C>T (p.D2263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67755248G>A" "" "likely benign" "" "0000552888" "0" "30" "14" "68228164" "68228164" "subst" "6.9063E-5" "01943" "ZFYVE26_000064" "g.68228164G>A" "" "" "" "ZFYVE26(NM_015346.3):c.6507C>T (p.N2169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67761447G>A" "" "likely benign" "" "0000552890" "0" "30" "14" "68229061" "68229061" "subst" "4.06659E-6" "01943" "ZFYVE26_000066" "g.68229061G>A" "" "" "" "ZFYVE26(NM_015346.3):c.6228C>T (p.A2076=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67762344G>A" "" "likely benign" "" "0000552891" "0" "30" "14" "68229462" "68229462" "subst" "0.00134894" "01943" "ZFYVE26_000067" "g.68229462A>G" "" "" "" "ZFYVE26(NM_015346.3):c.6086T>C (p.I2029T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67762745A>G" "" "likely benign" "" "0000552892" "0" "30" "14" "68236320" "68236320" "subst" "0.00996599" "01804" "ZFYVE26_000042" "g.68236320C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5612G>A (p.(Cys1871Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67769603C>T" "" "likely benign" "" "0000552893" "0" "30" "14" "68238751" "68238751" "subst" "0.00296756" "02326" "ZFYVE26_000068" "g.68238751C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5484+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67772034C>T" "" "likely benign" "" "0000552894" "0" "30" "14" "68238776" "68238776" "subst" "0" "01943" "ZFYVE26_000069" "g.68238776C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5472G>A (p.E1824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67772059C>T" "" "likely benign" "" "0000552896" "0" "10" "14" "68249605" "68249605" "subst" "0.000613382" "01943" "ZFYVE26_000071" "g.68249605C>T" "" "" "" "ZFYVE26(NM_015346.3):c.4264G>A (p.V1422M, p.(Val1422Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67782888C>T" "" "benign" "" "0000552897" "0" "30" "14" "68249803" "68249803" "subst" "0.00190291" "01943" "ZFYVE26_000072" "g.68249803A>C" "" "" "" "ZFYVE26(NM_015346.3):c.4066T>G (p.C1356G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67783086A>C" "" "likely benign" "" "0000552899" "0" "30" "14" "68249899" "68249899" "subst" "0.000143745" "01943" "ZFYVE26_000074" "g.68249899A>T" "" "" "" "ZFYVE26(NM_015346.3):c.3970T>A (p.S1324T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67783182A>T" "" "likely benign" "" "0000552900" "0" "30" "14" "68250147" "68250147" "subst" "0.00314407" "01804" "ZFYVE26_000022" "g.68250147C>T" "" "" "" "ZFYVE26(NM_015346.3):c.3722G>A (p.R1241Q, p.(Arg1241Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67783430C>T" "" "likely benign" "" "0000552901" "0" "30" "14" "68251829" "68251829" "subst" "0" "01804" "ZFYVE26_000075" "g.68251829C>G" "" "" "" "ZFYVE26(NM_015346.3):c.3470G>C (p.(Ser1157Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67785112C>G" "" "likely benign" "" "0000552902" "0" "30" "14" "68251934" "68251934" "subst" "0.0243057" "01804" "ZFYVE26_000046" "g.68251934G>A" "" "" "" "ZFYVE26(NM_015346.3):c.3365C>T (p.(Ala1122Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67785217G>A" "" "likely benign" "" "0000552903" "0" "30" "14" "68251991" "68251991" "subst" "0.030049" "01804" "ZFYVE26_000047" "g.68251991G>A" "" "" "" "ZFYVE26(NM_015346.3):c.3308C>T (p.(Pro1103Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67785274G>A" "" "likely benign" "" "0000552904" "0" "30" "14" "68252643" "68252643" "subst" "0" "01943" "ZFYVE26_000076" "g.68252643C>T" "" "" "" "ZFYVE26(NM_015346.3):c.3236G>A (p.S1079N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67785926C>T" "" "likely benign" "" "0000552905" "0" "30" "14" "68252669" "68252669" "subst" "0.00481769" "01943" "ZFYVE26_000077" "g.68252669G>A" "" "" "" "ZFYVE26(NM_015346.3):c.3210C>T (p.P1070=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67785952G>A" "" "likely benign" "" "0000552906" "0" "10" "14" "68252852" "68252852" "subst" "0.0495208" "01943" "ZFYVE26_000049" "g.68252852A>T" "" "" "" "ZFYVE26(NM_015346.3):c.3118T>A (p.S1040T), ZFYVE26(NM_015346.4):c.3118T>A (p.(Ser1040Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67786135A>T" "" "benign" "" "0000552907" "0" "10" "14" "68252852" "68252852" "subst" "0.0495208" "01804" "ZFYVE26_000049" "g.68252852A>T" "" "" "" "ZFYVE26(NM_015346.3):c.3118T>A (p.S1040T), ZFYVE26(NM_015346.4):c.3118T>A (p.(Ser1040Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67786135A>T" "" "benign" "" "0000552908" "0" "10" "14" "68252852" "68252852" "subst" "0.0495208" "02326" "ZFYVE26_000049" "g.68252852A>T" "" "" "" "ZFYVE26(NM_015346.3):c.3118T>A (p.S1040T), ZFYVE26(NM_015346.4):c.3118T>A (p.(Ser1040Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67786135A>T" "" "benign" "" "0000552909" "0" "30" "14" "68252858" "68252858" "subst" "0" "01943" "ZFYVE26_000078" "g.68252858G>A" "" "" "" "ZFYVE26(NM_015346.3):c.3112C>T (p.L1038F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67786141G>A" "" "likely benign" "" "0000552910" "0" "50" "14" "68252945" "68252945" "subst" "1.7367E-5" "01943" "ZFYVE26_000079" "g.68252945G>C" "" "" "" "ZFYVE26(NM_015346.3):c.3025C>G (p.R1009G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67786228G>C" "" "VUS" "" "0000552911" "0" "50" "14" "68256237" "68256237" "subst" "0" "01804" "ZFYVE26_000080" "g.68256237T>A" "" "" "" "ZFYVE26(NM_015346.3):c.2834A>T (p.(Glu945Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67789520T>A" "" "VUS" "" "0000552912" "0" "30" "14" "68264382" "68264382" "del" "0.0165883" "01804" "ZFYVE26_000081" "g.68264382del" "" "" "" "ZFYVE26(NM_015346.3):c.2332+7del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67797665del" "" "likely benign" "" "0000552913" "0" "10" "14" "68264867" "68264867" "subst" "0.715607" "02325" "ZFYVE26_000054" "g.68264867A>G" "" "" "" "ZFYVE26(NM_015346.4):c.2112T>C (p.P704=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67798150A>G" "" "benign" "" "0000552914" "0" "30" "14" "68264912" "68264912" "subst" "0.00233493" "01943" "ZFYVE26_000082" "g.68264912G>A" "" "" "" "ZFYVE26(NM_015346.3):c.2067C>T (p.L689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67798195G>A" "" "likely benign" "" "0000552915" "0" "90" "14" "68264950" "68264950" "del" "0" "01943" "ZFYVE26_000083" "g.68264950del" "" "" "" "ZFYVE26(NM_015346.3):c.2030delG (p.G677Dfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67798233del" "" "pathogenic" "" "0000552916" "0" "30" "14" "68265135" "68265135" "subst" "0.00922772" "01804" "ZFYVE26_000055" "g.68265135G>A" "" "" "" "ZFYVE26(NM_015346.3):c.1844C>T (p.(Ser615Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67798418G>A" "" "likely benign" "" "0000552917" "0" "90" "14" "68270912" "68270913" "del" "0" "01943" "ZFYVE26_000084" "g.68270912_68270913del" "" "" "" "ZFYVE26(NM_015346.3):c.1343_1344delTC (p.L448Pfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67804195_67804196del" "" "pathogenic" "" "0000552918" "0" "30" "14" "68272021" "68272021" "subst" "0.00347685" "01804" "ZFYVE26_000032" "g.68272021C>A" "" "" "" "ZFYVE26(NM_015346.3):c.1184G>T (p.G395V, p.(Gly395Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67805304C>A" "" "likely benign" "" "0000552919" "0" "30" "14" "68272175" "68272175" "subst" "8.12236E-6" "01943" "ZFYVE26_000085" "g.68272175G>T" "" "" "" "ZFYVE26(NM_015346.3):c.1178C>A (p.T393N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67805458G>T" "" "likely benign" "" "0000552920" "0" "30" "14" "68274253" "68274253" "subst" "0.00199111" "01804" "ZFYVE26_000034" "g.68274253C>T" "" "" "" "ZFYVE26(NM_015346.3):c.748G>A (p.E250K, p.(Glu250Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67807536C>T" "" "likely benign" "" "0000552921" "0" "30" "14" "68274324" "68274324" "subst" "0.00170255" "01943" "ZFYVE26_000086" "g.68274324C>T" "" "" "" "ZFYVE26(NM_015346.3):c.677G>A (p.R226H), ZFYVE26(NM_015346.4):c.677G>A (p.(Arg226His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67807607C>T" "" "likely benign" "" "0000552922" "0" "30" "14" "68274324" "68274324" "subst" "0.00170255" "01804" "ZFYVE26_000086" "g.68274324C>T" "" "" "" "ZFYVE26(NM_015346.3):c.677G>A (p.R226H), ZFYVE26(NM_015346.4):c.677G>A (p.(Arg226His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67807607C>T" "" "likely benign" "" "0000552923" "0" "30" "14" "68274396" "68274396" "subst" "4.47318E-5" "01943" "ZFYVE26_000087" "g.68274396C>T" "" "" "" "ZFYVE26(NM_015346.3):c.605G>A (p.R202Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67807679C>T" "" "likely benign" "" "0000552925" "0" "30" "14" "68282675" "68282675" "subst" "9.61169E-5" "01943" "RAD51B_000007" "g.68282675A>T" "" "" "" "ZFYVE26(NM_015346.3):c.6T>A (p.N2K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67815958A>T" "" "likely benign" "" "0000615050" "0" "30" "14" "68241793" "68241793" "subst" "0.000382493" "01804" "ZFYVE26_000013" "g.68241793C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5260G>A (p.A1754T, p.(Ala1754Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67775076C>T" "" "likely benign" "" "0000615051" "0" "30" "14" "68241793" "68241793" "subst" "0.000382493" "02326" "ZFYVE26_000013" "g.68241793C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5260G>A (p.A1754T, p.(Ala1754Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67775076C>T" "" "likely benign" "" "0000615052" "0" "30" "14" "68249576" "68249576" "subst" "0.000129995" "01943" "ZFYVE26_000020" "g.68249576C>G" "" "" "" "ZFYVE26(NM_015346.3):c.4293G>C (p.Q1431H, p.(Gln1431His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67782859C>G" "" "likely benign" "" "0000615053" "0" "30" "14" "68249919" "68249919" "subst" "0.000150826" "01943" "ZFYVE26_000088" "g.68249919G>A" "" "" "" "ZFYVE26(NM_015346.3):c.3950C>T (p.T1317M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67783202G>A" "" "likely benign" "" "0000615054" "0" "30" "14" "68250136" "68250136" "subst" "0" "01943" "ZFYVE26_000089" "g.68250136G>T" "" "" "" "ZFYVE26(NM_015346.3):c.3733C>A (p.Q1245K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67783419G>T" "" "likely benign" "" "0000615055" "0" "30" "14" "68250188" "68250188" "subst" "8.14777E-6" "01943" "ZFYVE26_000090" "g.68250188G>A" "" "" "" "ZFYVE26(NM_015346.3):c.3681C>T (p.I1227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67783471G>A" "" "likely benign" "" "0000615056" "0" "50" "14" "68252939" "68252939" "subst" "0" "01943" "ZFYVE26_000092" "g.68252939C>T" "" "" "" "ZFYVE26(NM_015346.3):c.3031G>A (p.D1011N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67786222C>T" "" "VUS" "" "0000615057" "0" "50" "14" "68260455" "68260455" "subst" "2.84812E-5" "01943" "ZFYVE26_000093" "g.68260455G>C" "" "" "" "ZFYVE26(NM_015346.3):c.2423C>G (p.S808C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67793738G>C" "" "VUS" "" "0000615058" "0" "30" "14" "68265066" "68265066" "subst" "0" "01943" "ZFYVE26_000094" "g.68265066G>C" "" "" "" "ZFYVE26(NM_015346.3):c.1913C>G (p.P638R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67798349G>C" "" "likely benign" "" "0000623157" "0" "30" "14" "68252898" "68252898" "subst" "4.06124E-6" "01943" "ZFYVE26_000091" "g.68252898T>C" "" "" "" "ZFYVE26(NM_015346.3):c.3072A>G (p.P1024=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67786181T>C" "" "likely benign" "" "0000648953" "1" "50" "14" "68220861" "68220861" "subst" "0.00301334" "03575" "ZFYVE26_000004" "g.68220861G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs151166497}" "Germline" "" "rs151166497" "0" "" "" "g.67754144G>A" "" "VUS" "" "0000648954" "1" "10" "14" "68234533" "68234533" "subst" "0.00869215" "03575" "ZFYVE26_000095" "g.68234533C>A" "23/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "23 heterozygous; {DB:CLININrs34952009}" "Germline" "" "rs34952009" "0" "" "" "g.67767816C>A" "" "benign" "" "0000648955" "1" "10" "14" "68236320" "68236320" "subst" "0.00996599" "03575" "ZFYVE26_000042" "g.68236320C>T" "9/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs61746722}" "Germline" "" "rs61746722" "0" "" "" "g.67769603C>T" "" "benign" "" "0000648956" "1" "30" "14" "68251934" "68251934" "subst" "0.0243057" "03575" "ZFYVE26_000046" "g.68251934G>A" "86/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "86 heterozygous; {DB:CLININrs3742884}" "Germline" "" "rs3742884" "0" "" "" "g.67785217G>A" "" "likely benign" "" "0000648958" "1" "30" "14" "68265135" "68265135" "subst" "0.00922772" "03575" "ZFYVE26_000055" "g.68265135G>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs117228915}" "Germline" "" "rs117228915" "0" "" "" "g.67798418G>A" "" "likely benign" "" "0000657468" "0" "50" "14" "68270866" "68270866" "subst" "3.65453E-5" "01943" "ZFYVE26_000096" "g.68270866G>A" "" "" "" "ZFYVE26(NM_015346.3):c.1387C>T (p.L463F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67804149G>A" "" "VUS" "" "0000669257" "3" "10" "14" "68234533" "68234533" "subst" "0.00869215" "03575" "ZFYVE26_000095" "g.68234533C>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs34952009}" "Germline" "" "rs34952009" "0" "" "" "g.67767816C>A" "" "benign" "" "0000669258" "3" "30" "14" "68251934" "68251934" "subst" "0.0243057" "03575" "ZFYVE26_000046" "g.68251934G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs3742884}" "Germline" "" "rs3742884" "0" "" "" "g.67785217G>A" "" "likely benign" "" "0000669259" "3" "30" "14" "68251991" "68251991" "subst" "0.030049" "03575" "ZFYVE26_000047" "g.68251991G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs3742885}" "Germline" "" "rs3742885" "0" "" "" "g.67785274G>A" "" "likely benign" "" "0000680017" "0" "30" "14" "68274375" "68274375" "subst" "1.22003E-5" "01943" "ZFYVE26_000097" "g.68274375G>A" "" "" "" "ZFYVE26(NM_015346.3):c.626C>T (p.S209L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691696" "0" "30" "14" "68270833" "68270833" "subst" "0" "01943" "ZFYVE26_000098" "g.68270833G>A" "" "" "" "ZFYVE26(NM_015346.3):c.1420C>T (p.P474S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691697" "0" "50" "14" "68280690" "68280690" "subst" "0.00133154" "02327" "ZFYVE26_000099" "g.68280690T>C" "" "" "" "ZFYVE26(NM_015346.3):c.273+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691698" "0" "70" "14" "68282579" "68282579" "del" "0" "01943" "RAD51B_000017" "g.68282579del" "" "" "" "ZFYVE26(NM_015346.3):c.102delA (p.C35Vfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000701852" "3" "50" "14" "68268811" "68268812" "del" "0" "00006" "ZFYVE26_000100" "g.68268811_68268812del" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.67802094_67802095del" "" "VUS" "" "0000724846" "0" "30" "14" "68275919" "68275919" "subst" "0.000121882" "01943" "ZFYVE26_000036" "g.68275919C>T" "" "" "" "ZFYVE26(NM_015346.3):c.361G>A (p.E121K, p.(Glu121Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787083" "3" "70" "14" "68222759" "68222759" "subst" "0" "00006" "ZFYVE26_000101" "g.68222759A>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.67756042A>T" "" "likely pathogenic" "" "0000787427" "3" "50" "14" "68249899" "68249899" "subst" "0.000143745" "00006" "ZFYVE26_000074" "g.68249899A>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs776708469" "0" "" "" "g.67783182A>T" "{CV-RCV:000380893.1}" "VUS" "" "0000806470" "0" "30" "14" "68215156" "68215156" "subst" "0.000429863" "01943" "ZFYVE26_000102" "g.68215156C>T" "" "" "" "ZFYVE26(NM_015346.3):c.7617G>A (p.K2539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806471" "0" "30" "14" "68250088" "68250088" "subst" "1.62534E-5" "01943" "ZFYVE26_000103" "g.68250088C>T" "" "" "" "ZFYVE26(NM_015346.3):c.3781G>A (p.A1261T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806472" "0" "50" "14" "68250174" "68250174" "subst" "0" "01943" "ZFYVE26_000104" "g.68250174C>G" "" "" "" "ZFYVE26(NM_015346.3):c.3695G>C (p.C1232S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806473" "0" "30" "14" "68265109" "68265109" "subst" "0.000742324" "01943" "ZFYVE26_000105" "g.68265109C>T" "" "" "" "ZFYVE26(NM_015346.3):c.1870G>A (p.A624T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806474" "0" "30" "14" "68265242" "68265242" "subst" "0" "01943" "ZFYVE26_000106" "g.68265242G>A" "" "" "" "ZFYVE26(NM_015346.3):c.1737C>T (p.F579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853868" "0" "50" "14" "68233164" "68233164" "subst" "1.22402E-5" "01943" "ZFYVE26_000040" "g.68233164C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5791G>A (p.A1931T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853869" "0" "30" "14" "68238847" "68238847" "subst" "0.000360399" "01943" "ZFYVE26_000043" "g.68238847C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5401G>A (p.A1801T), ZFYVE26(NM_015346.4):c.5401G>A (p.(Ala1801Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853870" "0" "50" "14" "68244313" "68244313" "subst" "1.21844E-5" "01943" "ZFYVE26_000109" "g.68244313C>T" "" "" "" "ZFYVE26(NM_015346.3):c.4937G>A (p.R1646Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853871" "0" "30" "14" "68249545" "68249545" "subst" "0.000450992" "01943" "ZFYVE26_000111" "g.68249545C>T" "" "" "" "ZFYVE26(NM_015346.3):c.4324G>A (p.D1442N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853872" "0" "30" "14" "68274324" "68274324" "subst" "0.00170255" "02326" "ZFYVE26_000086" "g.68274324C>T" "" "" "" "ZFYVE26(NM_015346.3):c.677G>A (p.R226H), ZFYVE26(NM_015346.4):c.677G>A (p.(Arg226His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863623" "0" "30" "14" "68217817" "68217817" "subst" "2.43673E-5" "01943" "ZFYVE26_000107" "g.68217817T>C" "" "" "" "ZFYVE26(NM_015346.3):c.7372-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863624" "0" "30" "14" "68229395" "68229395" "subst" "1.62625E-5" "01943" "ZFYVE26_000108" "g.68229395G>A" "" "" "" "ZFYVE26(NM_015346.3):c.6153C>T (p.G2051=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863625" "0" "50" "14" "68244926" "68244926" "subst" "0" "01943" "ZFYVE26_000110" "g.68244926T>A" "" "" "" "ZFYVE26(NM_015346.3):c.4714A>T (p.I1572F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863626" "0" "30" "14" "68252651" "68252651" "subst" "3.24939E-5" "01943" "ZFYVE26_000112" "g.68252651A>G" "" "" "" "ZFYVE26(NM_015346.3):c.3228T>C (p.C1076=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863627" "0" "50" "14" "68257405" "68257405" "subst" "0" "01943" "ZFYVE26_000113" "g.68257405A>C" "" "" "" "ZFYVE26(NM_015346.3):c.2639T>G (p.L880R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891852" "0" "30" "14" "68221935" "68221935" "subst" "0.000832765" "02326" "ZFYVE26_000006" "g.68221935C>T" "" "" "" "ZFYVE26(NM_015346.3):c.6819G>A (p.R2273=), ZFYVE26(NM_015346.4):c.6819G>A (p.(Arg2273=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891853" "0" "50" "14" "68229099" "68229099" "subst" "3.66479E-5" "02325" "ZFYVE26_000114" "g.68229099C>T" "" "" "" "ZFYVE26(NM_015346.4):c.6190G>A (p.(Gly2064Arg), p.G2064R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891854" "0" "30" "14" "68250147" "68250147" "subst" "0.00314407" "02326" "ZFYVE26_000022" "g.68250147C>T" "" "" "" "ZFYVE26(NM_015346.3):c.3722G>A (p.R1241Q, p.(Arg1241Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891855" "0" "50" "14" "68268871" "68268871" "subst" "0" "02325" "ZFYVE26_000115" "g.68268871G>T" "" "" "" "ZFYVE26(NM_015346.4):c.1564C>A (p.Q522K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891856" "0" "50" "14" "68274315" "68274315" "subst" "3.25005E-5" "02325" "ZFYVE26_000116" "g.68274315G>T" "" "" "" "ZFYVE26(NM_015346.4):c.686C>A (p.A229E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914211" "0" "50" "14" "68236348" "68236348" "subst" "6.50391E-5" "02325" "ZFYVE26_000117" "g.68236348G>A" "" "" "" "ZFYVE26(NM_015346.4):c.5584C>T (p.(Arg1862Cys), p.R1862C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925903" "0" "30" "14" "68249672" "68249672" "subst" "0.00225891" "02326" "ZFYVE26_000021" "g.68249672G>A" "" "" "" "ZFYVE26(NM_015346.3):c.4197C>T (p.T1399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930322" "0" "30" "14" "68215240" "68215240" "subst" "0.00123502" "02326" "ZFYVE26_000001" "g.68215240G>A" "" "" "" "ZFYVE26(NM_015346.3):c.7533C>T (p.S2511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946836" "3" "90" "14" "68272263" "68272263" "del" "0" "00006" "ZFYVE26_000118" "g.68272263del" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PVS1, PM2, PP1, PP4" "Germline" "yes" "" "0" "" "" "g.67805546del" "" "pathogenic (recessive)" "" "0000946837" "3" "90" "14" "68272263" "68272263" "del" "0" "00006" "ZFYVE26_000118" "g.68272263del" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PVS1, PM2, PP1, PP4" "Germline" "yes" "" "0" "" "" "g.67805546del" "" "pathogenic (recessive)" "" "0000946838" "3" "90" "14" "68272263" "68272263" "del" "0" "00006" "ZFYVE26_000118" "g.68272263del" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PVS1, PM2, PP1, PP4" "Germline" "yes" "" "0" "" "" "g.67805546del" "" "pathogenic (recessive)" "" "0000950267" "0" "30" "14" "68219043" "68219043" "subst" "0.00346056" "02326" "ZFYVE26_000119" "g.68219043G>A" "" "" "" "ZFYVE26(NM_015346.3):c.7371+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950268" "0" "30" "14" "68272021" "68272021" "subst" "0.00347685" "02326" "ZFYVE26_000032" "g.68272021C>A" "" "" "" "ZFYVE26(NM_015346.3):c.1184G>T (p.G395V, p.(Gly395Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967529" "0" "30" "14" "68248218" "68248218" "subst" "0.00137706" "02326" "ZFYVE26_000120" "g.68248218G>A" "" "" "" "ZFYVE26(NM_015346.3):c.4401C>T (p.P1467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980966" "0" "30" "14" "68220861" "68220861" "subst" "0.00301334" "01804" "ZFYVE26_000004" "g.68220861G>A" "" "" "" "ZFYVE26(NM_015346.3):c.7055C>T (p.T2352I), ZFYVE26(NM_015346.4):c.7055C>T (p.(Thr2352Ile), p.T2352I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980967" "0" "50" "14" "68220897" "68220897" "subst" "4.06118E-6" "01804" "ZFYVE26_000122" "g.68220897A>G" "" "" "" "ZFYVE26(NM_015346.4):c.7019T>C (p.(Val2340Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980968" "0" "50" "14" "68221861" "68221861" "subst" "0" "01804" "ZFYVE26_000123" "g.68221861T>C" "" "" "" "ZFYVE26(NM_015346.4):c.6893A>G (p.(His2298Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980969" "0" "50" "14" "68229099" "68229099" "subst" "3.66479E-5" "01804" "ZFYVE26_000114" "g.68229099C>T" "" "" "" "ZFYVE26(NM_015346.4):c.6190G>A (p.(Gly2064Arg), p.G2064R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980970" "0" "10" "14" "68234427" "68234427" "subst" "0.00682071" "01804" "ZFYVE26_000124" "g.68234427A>G" "" "" "" "ZFYVE26(NM_015346.4):c.5784T>C (p.(Tyr1928=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980971" "0" "50" "14" "68236422" "68236422" "subst" "1.21962E-5" "01804" "ZFYVE26_000125" "g.68236422C>T" "" "" "" "ZFYVE26(NM_015346.4):c.5510G>A (p.(Arg1837His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980972" "0" "50" "14" "68249637" "68249637" "subst" "0" "01804" "ZFYVE26_000126" "g.68249637T>G" "" "" "" "ZFYVE26(NM_015346.4):c.4232A>C (p.(Asp1411Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980973" "0" "30" "14" "68249803" "68249803" "subst" "0.00190291" "02326" "ZFYVE26_000072" "g.68249803A>C" "" "" "" "ZFYVE26(NM_015346.3):c.4066T>G (p.C1356G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980974" "0" "30" "14" "68250112" "68250112" "subst" "0.0123927" "01804" "ZFYVE26_000045" "g.68250112G>A" "" "" "" "ZFYVE26(NM_015346.4):c.3757C>T (p.(Leu1253=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980975" "0" "10" "14" "68252669" "68252669" "subst" "0.0242956" "01804" "ZFYVE26_000048" "g.68252669G>C" "" "" "" "ZFYVE26(NM_015346.4):c.3210C>G (p.(Pro1070=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980976" "0" "30" "14" "68256184" "68256184" "subst" "0.00770251" "01804" "ZFYVE26_000025" "g.68256184C>G" "" "" "" "ZFYVE26(NM_015346.3):c.2887G>C (p.(Val963Leu), p.V963L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980977" "0" "50" "14" "68260479" "68260479" "subst" "0" "01804" "ZFYVE26_000127" "g.68260479G>A" "" "" "" "ZFYVE26(NM_015346.4):c.2402-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980978" "0" "30" "14" "68268838" "68268838" "subst" "0.0032728" "01804" "ZFYVE26_000128" "g.68268838C>T" "" "" "" "ZFYVE26(NM_015346.4):c.1597G>A (p.(Ala533Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980979" "0" "30" "14" "68280690" "68280690" "subst" "0.00133154" "02326" "ZFYVE26_000099" "g.68280690T>C" "" "" "" "ZFYVE26(NM_015346.3):c.273+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001110" "0" "50" "14" "68219058" "68219058" "subst" "2.97086E-5" "01804" "ZFYVE26_000002" "g.68219058T>C" "" "" "" "ZFYVE26(NM_015346.3):c.7371+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001111" "0" "30" "14" "68249605" "68249605" "subst" "0.000613382" "01804" "ZFYVE26_000071" "g.68249605C>T" "" "" "" "ZFYVE26(NM_015346.3):c.4264G>A (p.V1422M, p.(Val1422Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001112" "0" "50" "14" "68264895" "68264895" "subst" "6.09132E-5" "01804" "ZFYVE26_000129" "g.68264895T>C" "" "" "" "ZFYVE26(NM_015346.3):c.2084A>G (p.(Gln695Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001113" "0" "30" "14" "68265046" "68265046" "subst" "0.00536149" "01804" "ZFYVE26_000030" "g.68265046T>C" "" "" "" "ZFYVE26(NM_015346.3):c.1933A>G (p.M645V, p.(Met645Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001114" "0" "50" "14" "68282559" "68282559" "subst" "3.24855E-5" "01804" "RAD51B_000025" "g.68282559T>A" "" "" "" "ZFYVE26(NM_015346.3):c.122A>T (p.(Glu41Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001115" "0" "50" "14" "68282560" "68282560" "subst" "3.24852E-5" "01804" "RAD51B_000026" "g.68282560C>T" "" "" "" "ZFYVE26(NM_015346.3):c.121G>A (p.(Glu41Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015164" "0" "30" "14" "68249803" "68249803" "subst" "0.00190291" "02327" "ZFYVE26_000072" "g.68249803A>C" "" "" "" "ZFYVE26(NM_015346.3):c.4066T>G (p.C1356G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015165" "0" "30" "14" "68252919" "68252919" "subst" "0.000698517" "02326" "ZFYVE26_000024" "g.68252919A>G" "" "" "" "ZFYVE26(NM_015346.3):c.3051T>C (p.A1017=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026399" "0" "30" "14" "68244396" "68244396" "subst" "0.00246481" "02326" "ZFYVE26_000015" "g.68244396G>A" "" "" "" "ZFYVE26(NM_015346.3):c.4854C>T (p.L1618=), ZFYVE26(NM_015346.4):c.4854C>T (p.(Leu1618=), p.L1618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040050" "0" "10" "14" "68217778" "68217778" "subst" "0.00465384" "01804" "ZFYVE26_000130" "g.68217778A>G" "" "" "" "ZFYVE26(NM_015346.4):c.7407T>C (p.(Asp2469=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040051" "0" "10" "14" "68221833" "68221833" "subst" "0.0047638" "01804" "ZFYVE26_000131" "g.68221833G>A" "" "" "" "ZFYVE26(NM_015346.4):c.6921C>T (p.(Ser2307=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040052" "0" "30" "14" "68221935" "68221935" "subst" "0.000832765" "01804" "ZFYVE26_000006" "g.68221935C>T" "" "" "" "ZFYVE26(NM_015346.3):c.6819G>A (p.R2273=), ZFYVE26(NM_015346.4):c.6819G>A (p.(Arg2273=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040053" "0" "50" "14" "68244366" "68244366" "subst" "2.43641E-5" "01804" "ZFYVE26_000132" "g.68244366G>T" "" "" "" "ZFYVE26(NM_015346.4):c.4884C>A (p.(His1628Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040054" "0" "30" "14" "68249744" "68249744" "subst" "4.06659E-5" "01804" "ZFYVE26_000133" "g.68249744C>T" "" "" "" "ZFYVE26(NM_015346.4):c.4125G>A (p.(Glu1375=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040055" "0" "30" "14" "68252945" "68252945" "subst" "0.000264847" "01804" "ZFYVE26_000134" "g.68252945G>A" "" "" "" "ZFYVE26(NM_015346.4):c.3025C>T (p.(Arg1009Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040056" "0" "10" "14" "68256219" "68256219" "subst" "0.0056264" "01804" "ZFYVE26_000135" "g.68256219G>A" "" "" "" "ZFYVE26(NM_015346.4):c.2852C>T (p.(Thr951Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040057" "0" "70" "14" "68260474" "68260474" "subst" "0" "01804" "ZFYVE26_000136" "g.68260474C>A" "" "" "" "ZFYVE26(NM_015346.4):c.2404G>T (p.(Gly802*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001054862" "0" "30" "14" "68229094" "68229094" "subst" "1.22095E-5" "01804" "ZFYVE26_000137" "g.68229094C>T" "" "" "" "ZFYVE26(NM_015346.4):c.6195G>A (p.(Ala2065=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054863" "0" "30" "14" "68233156" "68233156" "subst" "0.000269019" "01804" "ZFYVE26_000138" "g.68233156G>A" "" "" "" "ZFYVE26(NM_015346.4):c.5799C>T (p.(Ser1933=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054864" "0" "10" "14" "68234533" "68234533" "subst" "0.00869215" "01804" "ZFYVE26_000095" "g.68234533C>A" "" "" "" "ZFYVE26(NM_015346.4):c.5678G>T (p.(Ser1893Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001054865" "0" "50" "14" "68236348" "68236348" "subst" "6.50391E-5" "01804" "ZFYVE26_000117" "g.68236348G>A" "" "" "" "ZFYVE26(NM_015346.4):c.5584C>T (p.(Arg1862Cys), p.R1862C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054866" "0" "50" "14" "68244308" "68244308" "subst" "8.12229E-6" "01804" "ZFYVE26_000139" "g.68244308G>A" "" "" "" "ZFYVE26(NM_015346.4):c.4942C>T (p.(Arg1648Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054867" "0" "30" "14" "68244396" "68244396" "subst" "0.00246481" "01804" "ZFYVE26_000015" "g.68244396G>A" "" "" "" "ZFYVE26(NM_015346.3):c.4854C>T (p.L1618=), ZFYVE26(NM_015346.4):c.4854C>T (p.(Leu1618=), p.L1618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054868" "0" "10" "14" "68271981" "68271981" "subst" "0.0183315" "01804" "ZFYVE26_000140" "g.68271981C>A" "" "" "" "ZFYVE26(NM_015346.4):c.1224G>T (p.(Gly408=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001054869" "0" "50" "14" "68274408" "68274408" "subst" "2.8462E-5" "01804" "ZFYVE26_000035" "g.68274408C>T" "" "" "" "ZFYVE26(NM_015346.3):c.593G>A (p.R198Q), ZFYVE26(NM_015346.4):c.593G>A (p.(Arg198Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066086" "0" "50" "14" "68229095" "68229095" "subst" "0" "02325" "ZFYVE26_000141" "g.68229095G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066087" "0" "50" "14" "68229394" "68229394" "subst" "0.000203262" "02325" "ZFYVE26_000009" "g.68229394C>T" "" "" "" "ZFYVE26(NM_015346.3):c.6154G>A (p.V2052I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066088" "0" "50" "14" "68238847" "68238847" "subst" "0.000360399" "01804" "ZFYVE26_000043" "g.68238847C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5401G>A (p.A1801T), ZFYVE26(NM_015346.4):c.5401G>A (p.(Ala1801Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066089" "0" "50" "14" "68264470" "68264470" "subst" "1.62594E-5" "02325" "ZFYVE26_000142" "g.68264470C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066090" "0" "50" "14" "68274558" "68274558" "subst" "8.14498E-6" "01804" "ZFYVE26_000143" "g.68274558C>A" "" "" "" "ZFYVE26(NM_015346.4):c.443G>T (p.(Arg148Leu))" "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 ZFYVE26 ## Count = 207 "{{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}}" "0000254274" "00023172" "30" "3051" "0" "3051" "0" "c.3051T>C" "r.(?)" "p.(Ala1017=)" "" "0000254453" "00023172" "30" "4782" "0" "4782" "0" "c.4782T>C" "r.(?)" "p.(His1594=)" "" "0000313139" "00023172" "90" "2357" "0" "2357" "0" "c.2357del" "r.(?)" "p.(Pro786HisfsTer10)" "" "0000313140" "00023172" "10" "4370" "0" "4370" "0" "c.4370G>A" "r.(?)" "p.(Cys1457Tyr)" "" "0000313141" "00023172" "30" "4854" "0" "4854" "0" "c.4854C>T" "r.(?)" "p.(Leu1618=)" "" "0000313142" "00023172" "10" "5485" "-75" "5485" "-75" "c.5485-75C>T" "r.(=)" "p.(=)" "" "0000313143" "00023172" "10" "5672" "0" "5672" "0" "c.5672A>G" "r.(?)" "p.(Asn1891Ser)" "" "0000315537" "00023172" "90" "1261" "0" "1261" "0" "c.1261C>T" "r.(?)" "p.(Gln421Ter)" "" "0000315538" "00023172" "10" "2826" "0" "2826" "0" "c.2826G>A" "r.(?)" "p.(Met942Ile)" "" "0000315539" "00023172" "10" "2887" "0" "2887" "0" "c.2887G>C" "r.(?)" "p.(Val963Leu)" "" "0000315540" "00023172" "90" "3139" "1" "3139" "1" "c.3139+1G>A" "r.spl?" "p.?" "" "0000315541" "00023172" "30" "7232" "0" "7232" "0" "c.7232G>A" "r.(?)" "p.(Arg2411His)" "" "0000320165" "00023172" "50" "1184" "0" "1184" "0" "c.1184G>T" "r.(?)" "p.(Gly395Val)" "" "0000320166" "00023172" "30" "1933" "0" "1933" "0" "c.1933A>G" "r.(?)" "p.(Met645Val)" "" "0000320167" "00023172" "50" "2585" "0" "2585" "0" "c.2585C>G" "r.(?)" "p.(Pro862Arg)" "" "0000320168" "00023172" "30" "2853" "0" "2853" "0" "c.2853G>A" "r.(?)" "p.(Thr951=)" "" "0000320169" "00023172" "30" "3722" "0" "3722" "0" "c.3722G>A" "r.(?)" "p.(Arg1241Gln)" "" "0000320170" "00023172" "30" "4197" "0" "4197" "0" "c.4197C>T" "r.(?)" "p.(Thr1399=)" "" "0000320171" "00023172" "50" "4309" "0" "4309" "0" "c.4309G>A" "r.(?)" "p.(Gly1437Arg)" "" "0000320172" "00023172" "30" "4734" "0" "4734" "0" "c.4734C>T" "r.(?)" "p.(Ile1578=)" "" "0000320173" "00023172" "30" "4854" "0" "4854" "0" "c.4854C>T" "r.(?)" "p.(Leu1618=)" "" "0000320174" "00023172" "50" "5216" "0" "5216" "0" "c.5216G>T" "r.(?)" "p.(Arg1739Leu)" "" "0000320175" "00023172" "30" "5260" "0" "5260" "0" "c.5260G>A" "r.(?)" "p.(Ala1754Thr)" "" "0000320176" "00023172" "50" "5767" "0" "5767" "0" "c.5767C>T" "r.(?)" "p.(Arg1923Trp)" "" "0000320177" "00023172" "30" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198Gln)" "" "0000320178" "00023172" "50" "6154" "0" "6154" "0" "c.6154G>A" "r.(?)" "p.(Val2052Ile)" "" "0000320179" "00023172" "30" "6189" "0" "6189" "0" "c.6189C>T" "r.(?)" "p.(Thr2063=)" "" "0000320180" "00023172" "50" "6629" "0" "6629" "0" "c.6629C>G" "r.(?)" "p.(Pro2210Arg)" "" "0000320181" "00023172" "10" "6819" "0" "6819" "0" "c.6819G>A" "r.(?)" "p.(Arg2273=)" "" "0000320182" "00023172" "30" "6849" "0" "6849" "0" "c.6849A>G" "r.(?)" "p.(Thr2283=)" "" "0000320183" "00023172" "30" "7055" "0" "7055" "0" "c.7055C>T" "r.(?)" "p.(Thr2352Ile)" "" "0000320184" "00023172" "50" "7371" "3" "7371" "3" "c.7371+3A>G" "r.spl?" "p.?" "" "0000320185" "00023172" "10" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Glu250Lys)" "" "0000320186" "00023172" "30" "7533" "0" "7533" "0" "c.7533C>T" "r.(?)" "p.(Ser2511=)" "" "0000320187" "00023172" "30" "987" "0" "987" "0" "c.987C>T" "r.(?)" "p.(Ser329=)" "" "0000323737" "00023172" "50" "4293" "0" "4293" "0" "c.4293G>C" "r.(?)" "p.(Gln1431His)" "" "0000323738" "00023172" "50" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Glu121Lys)" "" "0000338618" "00023172" "10" "6987" "-3" "6987" "-3" "c.6987-3C>T" "r.spl?" "p.?" "" "0000338619" "00023172" "10" "2401" "11" "2401" "11" "c.2401+11T>A" "r.(=)" "p.(=)" "" "0000338620" "00023172" "10" "-70" "0" "-70" "0" "c.-70A>T" "r.(?)" "p.(=)" "" "0000340377" "00023172" "50" "7041" "0" "7041" "0" "c.7041C>T" "r.(?)" "p.(Cys2347=)" "" "0000340378" "00023172" "30" "6405" "0" "6405" "0" "c.6405G>A" "r.(?)" "p.(Leu2135=)" "" "0000340379" "00023172" "30" "4734" "0" "4734" "0" "c.4734C>T" "r.(?)" "p.(Ile1578=)" "" "0000340380" "00023172" "10" "3757" "0" "3757" "0" "c.3757C>T" "r.(?)" "p.(Leu1253=)" "" "0000340381" "00023172" "10" "3210" "0" "3210" "0" "c.3210C>G" "r.(?)" "p.(Pro1070=)" "" "0000340382" "00023172" "10" "2559" "0" "2559" "0" "c.2559G>A" "r.(?)" "p.(Leu853=)" "" "0000340383" "00023172" "10" "2112" "0" "2112" "0" "c.2112=" "r.(=)" "p.(Pro704=)" "" "0000341120" "00023172" "10" "3365" "0" "3365" "0" "c.3365C>T" "r.(?)" "p.(Ala1122Val)" "" "0000341275" "00023172" "50" "662" "0" "662" "0" "c.662C>G" "r.(?)" "p.(Ala221Gly)" "" "0000341812" "00023172" "30" "3722" "0" "3722" "0" "c.3722G>A" "r.(?)" "p.(Arg1241Gln)" "" "0000342378" "00023172" "30" "7232" "0" "7232" "0" "c.7232G>A" "r.(?)" "p.(Arg2411His)" "" "0000343634" "00023172" "10" "5672" "0" "5672" "0" "c.5672A>G" "r.(?)" "p.(Asn1891Ser)" "" "0000344276" "00023172" "10" "4370" "0" "4370" "0" "c.4370G>A" "r.(?)" "p.(Cys1457Tyr)" "" "0000344292" "00023172" "30" "5612" "0" "5612" "0" "c.5612G>A" "r.(?)" "p.(Cys1871Tyr)" "" "0000344556" "00023172" "50" "4293" "0" "4293" "0" "c.4293G>C" "r.(?)" "p.(Gln1431His)" "" "0000347907" "00023172" "50" "2486" "0" "2486" "0" "c.2486T>C" "r.(?)" "p.(Met829Thr)" "" "0000347914" "00023172" "10" "2826" "0" "2826" "0" "c.2826G>A" "r.(?)" "p.(Met942Ile)" "" "0000348135" "00023172" "10" "3308" "0" "3308" "0" "c.3308C>T" "r.(?)" "p.(Pro1103Leu)" "" "0000348641" "00023172" "10" "3118" "0" "3118" "0" "c.3118T>A" "r.(?)" "p.(Ser1040Thr)" "" "0000349121" "00023172" "30" "1844" "0" "1844" "0" "c.1844C>T" "r.(?)" "p.(Ser615Phe)" "" "0000349651" "00023172" "10" "2692" "0" "2692" "0" "c.2692A>T" "r.(?)" "p.(Thr898Ser)" "" "0000350300" "00023172" "50" "4402" "0" "4402" "0" "c.4402G>A" "r.(?)" "p.(Val1468Met)" "" "0000350696" "00023172" "30" "2887" "0" "2887" "0" "c.2887G>C" "r.(?)" "p.(Val963Leu)" "" "0000356904" "00023172" "90" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(Arg755*)" "" "0000552879" "00023172" "10" "7586" "0" "7586" "0" "c.7586C>G" "r.(?)" "p.(Pro2529Arg)" "" "0000552880" "00023172" "30" "7417" "-5" "7417" "-5" "c.7417-5G>C" "r.spl?" "p.?" "" "0000552881" "00023172" "30" "7354" "0" "7354" "0" "c.7354A>G" "r.(?)" "p.(Lys2452Glu)" "" "0000552882" "00023172" "30" "7306" "0" "7306" "0" "c.7306G>A" "r.(?)" "p.(Ala2436Thr)" "" "0000552883" "00023172" "10" "7232" "0" "7232" "0" "c.7232G>A" "r.(?)" "p.(Arg2411His)" "" "0000552884" "00023172" "30" "7128" "4" "7128" "4" "c.7128+4C>T" "r.spl?" "p.?" "" "0000552885" "00023172" "30" "7055" "0" "7055" "0" "c.7055C>T" "r.(?)" "p.(Thr2352Ile)" "" "0000552886" "00023172" "30" "6987" "-3" "6987" "-3" "c.6987-3C>T" "r.spl?" "p.?" "" "0000552887" "00023172" "30" "6789" "0" "6789" "0" "c.6789C>T" "r.(?)" "p.(Asp2263=)" "" "0000552888" "00023172" "30" "6507" "0" "6507" "0" "c.6507C>T" "r.(?)" "p.(Asn2169=)" "" "0000552890" "00023172" "30" "6228" "0" "6228" "0" "c.6228C>T" "r.(?)" "p.(Ala2076=)" "" "0000552891" "00023172" "30" "6086" "0" "6086" "0" "c.6086T>C" "r.(?)" "p.(Ile2029Thr)" "" "0000552892" "00023172" "30" "5612" "0" "5612" "0" "c.5612G>A" "r.(?)" "p.(Cys1871Tyr)" "" "0000552893" "00023172" "30" "5484" "13" "5484" "13" "c.5484+13G>A" "r.(=)" "p.(=)" "" "0000552894" "00023172" "30" "5472" "0" "5472" "0" "c.5472G>A" "r.(?)" "p.(Glu1824=)" "" "0000552896" "00023172" "10" "4264" "0" "4264" "0" "c.4264G>A" "r.(?)" "p.(Val1422Met)" "" "0000552897" "00023172" "30" "4066" "0" "4066" "0" "c.4066T>G" "r.(?)" "p.(Cys1356Gly)" "" "0000552899" "00023172" "30" "3970" "0" "3970" "0" "c.3970T>A" "r.(?)" "p.(Ser1324Thr)" "" "0000552900" "00023172" "30" "3722" "0" "3722" "0" "c.3722G>A" "r.(?)" "p.(Arg1241Gln)" "" "0000552901" "00023172" "30" "3470" "0" "3470" "0" "c.3470G>C" "r.(?)" "p.(Ser1157Thr)" "" "0000552902" "00023172" "30" "3365" "0" "3365" "0" "c.3365C>T" "r.(?)" "p.(Ala1122Val)" "" "0000552903" "00023172" "30" "3308" "0" "3308" "0" "c.3308C>T" "r.(?)" "p.(Pro1103Leu)" "" "0000552904" "00023172" "30" "3236" "0" "3236" "0" "c.3236G>A" "r.(?)" "p.(Ser1079Asn)" "" "0000552905" "00023172" "30" "3210" "0" "3210" "0" "c.3210C>T" "r.(?)" "p.(Pro1070=)" "" "0000552906" "00023172" "10" "3118" "0" "3118" "0" "c.3118T>A" "r.(?)" "p.(Ser1040Thr)" "" "0000552907" "00023172" "10" "3118" "0" "3118" "0" "c.3118T>A" "r.(?)" "p.(Ser1040Thr)" "" "0000552908" "00023172" "10" "3118" "0" "3118" "0" "c.3118T>A" "r.(?)" "p.(Ser1040Thr)" "" "0000552909" "00023172" "30" "3112" "0" "3112" "0" "c.3112C>T" "r.(?)" "p.(Leu1038Phe)" "" "0000552910" "00023172" "50" "3025" "0" "3025" "0" "c.3025C>G" "r.(?)" "p.(Arg1009Gly)" "" "0000552911" "00023172" "50" "2834" "0" "2834" "0" "c.2834A>T" "r.(?)" "p.(Glu945Val)" "" "0000552912" "00023172" "30" "2332" "7" "2332" "7" "c.2332+7del" "r.(=)" "p.(=)" "" "0000552913" "00023172" "10" "2112" "0" "2112" "0" "c.2112=" "r.(=)" "p.(Pro704=)" "" "0000552914" "00023172" "30" "2067" "0" "2067" "0" "c.2067C>T" "r.(?)" "p.(Leu689=)" "" "0000552915" "00023172" "90" "2030" "0" "2030" "0" "c.2030del" "r.(?)" "p.(Gly677AspfsTer9)" "" "0000552916" "00023172" "30" "1844" "0" "1844" "0" "c.1844C>T" "r.(?)" "p.(Ser615Phe)" "" "0000552917" "00023172" "90" "1343" "0" "1344" "0" "c.1343_1344del" "r.(?)" "p.(Leu448ProfsTer31)" "" "0000552918" "00023172" "30" "1184" "0" "1184" "0" "c.1184G>T" "r.(?)" "p.(Gly395Val)" "" "0000552919" "00023172" "30" "1178" "0" "1178" "0" "c.1178C>A" "r.(?)" "p.(Thr393Asn)" "" "0000552920" "00023172" "30" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Glu250Lys)" "" "0000552921" "00023172" "30" "677" "0" "677" "0" "c.677G>A" "r.(?)" "p.(Arg226His)" "" "0000552922" "00023172" "30" "677" "0" "677" "0" "c.677G>A" "r.(?)" "p.(Arg226His)" "" "0000552923" "00023172" "30" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202Gln)" "" "0000552925" "00023172" "30" "6" "0" "6" "0" "c.6T>A" "r.(?)" "p.(Asn2Lys)" "" "0000615050" "00023172" "30" "5260" "0" "5260" "0" "c.5260G>A" "r.(?)" "p.(Ala1754Thr)" "" "0000615051" "00023172" "30" "5260" "0" "5260" "0" "c.5260G>A" "r.(?)" "p.(Ala1754Thr)" "" "0000615052" "00023172" "30" "4293" "0" "4293" "0" "c.4293G>C" "r.(?)" "p.(Gln1431His)" "" "0000615053" "00023172" "30" "3950" "0" "3950" "0" "c.3950C>T" "r.(?)" "p.(Thr1317Met)" "" "0000615054" "00023172" "30" "3733" "0" "3733" "0" "c.3733C>A" "r.(?)" "p.(Gln1245Lys)" "" "0000615055" "00023172" "30" "3681" "0" "3681" "0" "c.3681C>T" "r.(?)" "p.(Ile1227=)" "" "0000615056" "00023172" "50" "3031" "0" "3031" "0" "c.3031G>A" "r.(?)" "p.(Asp1011Asn)" "" "0000615057" "00023172" "50" "2423" "0" "2423" "0" "c.2423C>G" "r.(?)" "p.(Ser808Cys)" "" "0000615058" "00023172" "30" "1913" "0" "1913" "0" "c.1913C>G" "r.(?)" "p.(Pro638Arg)" "" "0000623157" "00023172" "30" "3072" "0" "3072" "0" "c.3072A>G" "r.(?)" "p.(Pro1024=)" "" "0000648953" "00023172" "50" "7055" "0" "7055" "0" "c.7055C>T" "r.(?)" "p.(Thr2352Ile)" "" "0000648954" "00023172" "10" "5678" "0" "5678" "0" "c.5678G>T" "r.(?)" "p.(Ser1893Ile)" "" "0000648955" "00023172" "10" "5612" "0" "5612" "0" "c.5612G>A" "r.(?)" "p.(Cys1871Tyr)" "" "0000648956" "00023172" "30" "3365" "0" "3365" "0" "c.3365C>T" "r.(?)" "p.(Ala1122Val)" "" "0000648958" "00023172" "30" "1844" "0" "1844" "0" "c.1844C>T" "r.(?)" "p.(Ser615Phe)" "" "0000657468" "00023172" "50" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Leu463Phe)" "" "0000669257" "00023172" "10" "5678" "0" "5678" "0" "c.5678G>T" "r.(?)" "p.(Ser1893Ile)" "" "0000669258" "00023172" "30" "3365" "0" "3365" "0" "c.3365C>T" "r.(?)" "p.(Ala1122Val)" "" "0000669259" "00023172" "30" "3308" "0" "3308" "0" "c.3308C>T" "r.(?)" "p.(Pro1103Leu)" "" "0000680017" "00023172" "30" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Ser209Leu)" "" "0000691696" "00023172" "30" "1420" "0" "1420" "0" "c.1420C>T" "r.(?)" "p.(Pro474Ser)" "" "0000691697" "00023172" "50" "273" "13" "273" "13" "c.273+13A>G" "r.(=)" "p.(=)" "" "0000691698" "00023172" "70" "102" "0" "102" "0" "c.102del" "r.(?)" "p.(Cys35ValfsTer16)" "" "0000701852" "00023172" "50" "1630" "0" "1631" "0" "c.1630_1631del" "r.(?)" "p.(Ser544Leufs*24)" "" "0000724846" "00023172" "30" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Glu121Lys)" "" "0000787083" "00023172" "70" "6692" "0" "6692" "0" "c.6692T>A" "r.(?)" "p.(Leu2231Ter)" "36" "0000787427" "00023172" "50" "3970" "0" "3970" "0" "c.3970T>A" "r.(?)" "p.(Ser1324Thr)" "21" "0000806470" "00023172" "30" "7617" "0" "7617" "0" "c.7617G>A" "r.(?)" "p.(Lys2539=)" "" "0000806471" "00023172" "30" "3781" "0" "3781" "0" "c.3781G>A" "r.(?)" "p.(Ala1261Thr)" "" "0000806472" "00023172" "50" "3695" "0" "3695" "0" "c.3695G>C" "r.(?)" "p.(Cys1232Ser)" "" "0000806473" "00023172" "30" "1870" "0" "1870" "0" "c.1870G>A" "r.(?)" "p.(Ala624Thr)" "" "0000806474" "00023172" "30" "1737" "0" "1737" "0" "c.1737C>T" "r.(?)" "p.(Phe579=)" "" "0000853868" "00023172" "50" "5791" "0" "5791" "0" "c.5791G>A" "r.(?)" "p.(Ala1931Thr)" "" "0000853869" "00023172" "30" "5401" "0" "5401" "0" "c.5401G>A" "r.(?)" "p.(Ala1801Thr)" "" "0000853870" "00023172" "50" "4937" "0" "4937" "0" "c.4937G>A" "r.(?)" "p.(Arg1646Gln)" "" "0000853871" "00023172" "30" "4324" "0" "4324" "0" "c.4324G>A" "r.(?)" "p.(Asp1442Asn)" "" "0000853872" "00023172" "30" "677" "0" "677" "0" "c.677G>A" "r.(?)" "p.(Arg226His)" "" "0000863623" "00023172" "30" "7372" "-4" "7372" "-4" "c.7372-4A>G" "r.spl?" "p.?" "" "0000863624" "00023172" "30" "6153" "0" "6153" "0" "c.6153C>T" "r.(?)" "p.(Gly2051=)" "" "0000863625" "00023172" "50" "4714" "0" "4714" "0" "c.4714A>T" "r.(?)" "p.(Ile1572Phe)" "" "0000863626" "00023172" "30" "3228" "0" "3228" "0" "c.3228T>C" "r.(?)" "p.(Cys1076=)" "" "0000863627" "00023172" "50" "2639" "0" "2639" "0" "c.2639T>G" "r.(?)" "p.(Leu880Arg)" "" "0000891852" "00023172" "30" "6819" "0" "6819" "0" "c.6819G>A" "r.(?)" "p.(Arg2273=)" "" "0000891853" "00023172" "50" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Gly2064Arg)" "" "0000891854" "00023172" "30" "3722" "0" "3722" "0" "c.3722G>A" "r.(?)" "p.(Arg1241Gln)" "" "0000891855" "00023172" "50" "1564" "0" "1564" "0" "c.1564C>A" "r.(?)" "p.(Gln522Lys)" "" "0000891856" "00023172" "50" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Ala229Glu)" "" "0000914211" "00023172" "50" "5584" "0" "5584" "0" "c.5584C>T" "r.(?)" "p.(Arg1862Cys)" "" "0000925903" "00023172" "30" "4197" "0" "4197" "0" "c.4197C>T" "r.(?)" "p.(Thr1399=)" "" "0000930322" "00023172" "30" "7533" "0" "7533" "0" "c.7533C>T" "r.(?)" "p.(Ser2511=)" "" "0000946836" "00023172" "90" "1093" "0" "1093" "0" "c.1093del" "r.(?)" "p.(Leu365SerfsTer16)" "" "0000946837" "00023172" "90" "1093" "0" "1093" "0" "c.1093del" "r.(?)" "p.(Leu365SerfsTer16)" "" "0000946838" "00023172" "90" "1093" "0" "1093" "0" "c.1093del" "r.(?)" "p.(Leu365SerfsTer16)" "" "0000950267" "00023172" "30" "7371" "18" "7371" "18" "c.7371+18C>T" "r.(=)" "p.(=)" "" "0000950268" "00023172" "30" "1184" "0" "1184" "0" "c.1184G>T" "r.(?)" "p.(Gly395Val)" "" "0000967529" "00023172" "30" "4401" "0" "4401" "0" "c.4401C>T" "r.(?)" "p.(=)" "" "0000980966" "00023172" "30" "7055" "0" "7055" "0" "c.7055C>T" "r.(?)" "p.(Thr2352Ile)" "" "0000980967" "00023172" "50" "7019" "0" "7019" "0" "c.7019T>C" "r.(?)" "p.(Val2340Ala)" "" "0000980968" "00023172" "50" "6893" "0" "6893" "0" "c.6893A>G" "r.(?)" "p.(His2298Arg)" "" "0000980969" "00023172" "50" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Gly2064Arg)" "" "0000980970" "00023172" "10" "5784" "0" "5784" "0" "c.5784T>C" "r.(?)" "p.(=)" "" "0000980971" "00023172" "50" "5510" "0" "5510" "0" "c.5510G>A" "r.(?)" "p.(Arg1837His)" "" "0000980972" "00023172" "50" "4232" "0" "4232" "0" "c.4232A>C" "r.(?)" "p.(Asp1411Ala)" "" "0000980973" "00023172" "30" "4066" "0" "4066" "0" "c.4066T>G" "r.(?)" "p.(Cys1356Gly)" "" "0000980974" "00023172" "30" "3757" "0" "3757" "0" "c.3757C>T" "r.(?)" "p.(Leu1253=)" "" "0000980975" "00023172" "10" "3210" "0" "3210" "0" "c.3210C>G" "r.(?)" "p.(Pro1070=)" "" "0000980976" "00023172" "30" "2887" "0" "2887" "0" "c.2887G>C" "r.(?)" "p.(Val963Leu)" "" "0000980977" "00023172" "50" "2402" "-3" "2402" "-3" "c.2402-3C>T" "r.spl?" "p.?" "" "0000980978" "00023172" "30" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.(Ala533Thr)" "" "0000980979" "00023172" "30" "273" "13" "273" "13" "c.273+13A>G" "r.(=)" "p.(=)" "" "0001001110" "00023172" "50" "7371" "3" "7371" "3" "c.7371+3A>G" "r.spl?" "p.?" "" "0001001111" "00023172" "30" "4264" "0" "4264" "0" "c.4264G>A" "r.(?)" "p.(Val1422Met)" "" "0001001112" "00023172" "50" "2084" "0" "2084" "0" "c.2084A>G" "r.(?)" "p.(Gln695Arg)" "" "0001001113" "00023172" "30" "1933" "0" "1933" "0" "c.1933A>G" "r.(?)" "p.(Met645Val)" "" "0001001114" "00023172" "50" "122" "0" "122" "0" "c.122A>T" "r.(?)" "p.(Glu41Val)" "" "0001001115" "00023172" "50" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Glu41Lys)" "" "0001015164" "00023172" "30" "4066" "0" "4066" "0" "c.4066T>G" "r.(?)" "p.(Cys1356Gly)" "" "0001015165" "00023172" "30" "3051" "0" "3051" "0" "c.3051T>C" "r.(?)" "p.(Ala1017=)" "" "0001026399" "00023172" "30" "4854" "0" "4854" "0" "c.4854C>T" "r.(?)" "p.(Leu1618=)" "" "0001040050" "00023172" "10" "7407" "0" "7407" "0" "c.7407T>C" "r.(?)" "p.(=)" "" "0001040051" "00023172" "10" "6921" "0" "6921" "0" "c.6921C>T" "r.(?)" "p.(=)" "" "0001040052" "00023172" "30" "6819" "0" "6819" "0" "c.6819G>A" "r.(?)" "p.(Arg2273=)" "" "0001040053" "00023172" "50" "4884" "0" "4884" "0" "c.4884C>A" "r.(?)" "p.(His1628Gln)" "" "0001040054" "00023172" "30" "4125" "0" "4125" "0" "c.4125G>A" "r.(?)" "p.(=)" "" "0001040055" "00023172" "30" "3025" "0" "3025" "0" "c.3025C>T" "r.(?)" "p.(Arg1009Trp)" "" "0001040056" "00023172" "10" "2852" "0" "2852" "0" "c.2852C>T" "r.(?)" "p.(Thr951Met)" "" "0001040057" "00023172" "70" "2404" "0" "2404" "0" "c.2404G>T" "r.(?)" "p.(Gly802*)" "" "0001054862" "00023172" "30" "6195" "0" "6195" "0" "c.6195G>A" "r.(?)" "p.(=)" "" "0001054863" "00023172" "30" "5799" "0" "5799" "0" "c.5799C>T" "r.(?)" "p.(=)" "" "0001054864" "00023172" "10" "5678" "0" "5678" "0" "c.5678G>T" "r.(?)" "p.(Ser1893Ile)" "" "0001054865" "00023172" "50" "5584" "0" "5584" "0" "c.5584C>T" "r.(?)" "p.(Arg1862Cys)" "" "0001054866" "00023172" "50" "4942" "0" "4942" "0" "c.4942C>T" "r.(?)" "p.(Arg1648Cys)" "" "0001054867" "00023172" "30" "4854" "0" "4854" "0" "c.4854C>T" "r.(?)" "p.(Leu1618=)" "" "0001054868" "00023172" "10" "1224" "0" "1224" "0" "c.1224G>T" "r.(?)" "p.(=)" "" "0001054869" "00023172" "50" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198Gln)" "" "0001066086" "00023172" "50" "6194" "0" "6194" "0" "c.6194C>G" "r.(?)" "p.(Ala2065Gly)" "" "0001066087" "00023172" "50" "6154" "0" "6154" "0" "c.6154G>A" "r.(?)" "p.(Val2052Ile)" "" "0001066088" "00023172" "50" "5401" "0" "5401" "0" "c.5401G>A" "r.(?)" "p.(Ala1801Thr)" "" "0001066089" "00023172" "50" "2251" "0" "2251" "0" "c.2251G>A" "r.(?)" "p.(Glu751Lys)" "" "0001066090" "00023172" "50" "443" "0" "443" "0" "c.443G>T" "r.(?)" "p.(Arg148Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000155823" "0000356904" "0000292264" "0000648953" "0000292265" "0000648954" "0000292266" "0000648955" "0000292267" "0000648956" "0000292269" "0000648958" "0000305569" "0000669257" "0000305570" "0000669258" "0000305571" "0000669259" "0000319188" "0000701852" "0000375732" "0000787083" "0000376076" "0000787427" "0000444900" "0000946836" "0000444901" "0000946837" "0000444902" "0000946838"