### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PNPLA6) # 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}}" "PNPLA6" "patatin-like phospholipase domain containing 6" "19" "p13.2" "unknown" "NG_013374.1" "UD_132085392972" "" "http://www.LOVD.nl/PNPLA6" "" "1" "16268" "10908" "603197" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/PNPLA6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-01-27 14:16:34" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00016453" "PNPLA6" "transcript variant 2" "001" "NM_006702.4" "" "NP_006693.3" "" "" "" "-283" "4189" "3984" "7599038" "7626653" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01712" "BNHS" "Boucher Neuhauser syndrome" "AR" "215470" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03081" "SPG39" "paraplegia, spastic, type 39 (SPG-39)" "AR" "612020" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04177" "OMCS" "Oliver-McFarlane syndrome (OMCS)" "AR" "275400" "" "" "" "00006" "2015-01-27 14:10:39" "00006" "2021-12-10 21:51:32" "04178" "LNMS" "Laurence-Moon syndrome (LNMS)" "AR" "245800" "" "" "" "00006" "2015-01-27 14:11:39" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "PNPLA6" "01712" "PNPLA6" "03081" "PNPLA6" "04177" "PNPLA6" "04178" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00029684" "" "" "" "2" "" "00006" "{PMID:Hufnagel 2015:25480986}, {DOI:Hufnagel 2015:10.1136/jmedgenet-2014-102856}" "2-generation family, 2 affecteds (brother/sister), unaffected carrier parents" "" "" "" "" "0" "" "" "" "" "00029687" "" "" "" "1" "" "00006" "{PMID:Hufnagel 2015:25480986}, {DOI:Hufnagel 2015:10.1136/jmedgenet-2014-102856}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "" "00029688" "" "" "" "1" "" "00006" "{PMID:Hufnagel 2015:25480986}, {DOI:Hufnagel 2015:10.1136/jmedgenet-2014-102856}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "" "00029689" "" "" "" "1" "" "00006" "{PMID:Hufnagel 2015:25480986}, {DOI:Hufnagel 2015:10.1136/jmedgenet-2014-102856}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "" "00029690" "" "" "" "1" "" "00006" "{PMID:Patton 1986:3963113}, {PMID:Hufnagel 2015:25480986}, {DOI:Hufnagel 2015:10.1136/jmedgenet-2014-102856}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "white" "" "00029691" "" "" "" "5" "" "00006" "{PMID:Chalvon-Demersay 1993:8053762}, {PMID:Hufnagel 2015:25480986}, {DOI:Hufnagel 2015:10.1136/jmedgenet-2014-102856}" "2-generation family, 5 affecteds brothers/sisters (3F, 2M)" "" "no" "France" "" "0" "" "" "" "" "00164431" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00292208" "" "" "" "22" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00325461" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "" "" "" "Mexico" "" "0" "" "" "" "3337" "00333955" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "417" "00374811" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4602" "00426918" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 24, individual 27" "M" "" "" "" "0" "" "" "" "24_27" "00460929" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00029684" "04177" "00029687" "04177" "00029688" "04177" "00029689" "04178" "00029690" "04177" "00029691" "04178" "00164431" "00198" "00292208" "00198" "00325461" "04214" "00333955" "04214" "00374811" "00198" "00426918" "04214" "00460929" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01712, 03081, 04177, 04178, 04214 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Length/Stature}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Birth/Weight}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Birth/Length}}" "{{Phenotype/Hair/Alopecia}}" "{{Phenotype/Eye/Chorioretinopathy/HPO_0001145}}" "{{Phenotype/Eye/Eyelashes}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000025695" "04177" "00029684" "00006" "Familial, autosomal recessive" "" "Laurence-Moon syndrome considered; see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025697" "04177" "00029687" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025698" "04177" "00029688" "00006" "Isolated (sporadic)" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025700" "04177" "00029690" "00006" "Isolated (sporadic)" "" "see paper .." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025701" "04178" "00029691" "00006" "Familial, autosomal recessive" "" "see paper; ,," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025702" "04178" "00029689" "00006" "Isolated (sporadic)" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129490" "00198" "00164431" "01807" "Unknown" "" "HP:0001251 (Ataxia)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000243948" "04214" "00325461" "00006" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000252140" "04214" "00333955" "00000" "Familial, autosomal recessive" "12y" "clinical category IA2b" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "severe early childhood onset retinal dystrophy" "" "0000270021" "00198" "00374811" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, microcephaly, leukodystrophy" "" "0000318056" "04214" "00426918" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "congenital stationary night blindness" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029731" "00029684" "1" "00006" "00006" "2015-01-27 14:22:44" "" "" "SEQ" "DNA" "" "" "0000029734" "00029687" "1" "00006" "00006" "2015-01-27 20:06:37" "" "" "SEQ" "DNA" "" "" "0000029735" "00029688" "1" "00006" "00006" "2015-01-27 20:47:26" "" "" "SEQ" "DNA" "" "" "0000029736" "00029689" "1" "00006" "00006" "2015-01-27 20:53:57" "" "" "SEQ" "DNA" "" "" "0000029737" "00029690" "1" "00006" "00006" "2015-01-27 21:05:26" "" "" "SEQ" "DNA" "" "" "0000029738" "00029691" "1" "00006" "00006" "2015-01-27 21:14:26" "" "" "SEQ" "DNA" "" "" "0000165298" "00164431" "1" "01807" "01807" "2018-05-17 16:07:12" "" "" "SEQ" "DNA" "" "" "0000293376" "00292208" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000326672" "00325461" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000335181" "00333955" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000376005" "00374811" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000428238" "00426918" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000462561" "00460929" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000029731" "PNPLA6" "0000029734" "PNPLA6" "0000029735" "PNPLA6" "0000029736" "PNPLA6" "0000029737" "PNPLA6" "0000029738" "PNPLA6" "0000326672" "PNPLA6" "0000335181" "PNPLA6" "0000376005" "PNPLA6" "0000428238" "CACNA1F" "0000462561" "PNPLA6" ## 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 = 164 "{{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}}" "0000053137" "1" "90" "19" "7621596" "7621596" "subst" "0" "00006" "PNPLA6_000001" "g.7621596G>A" "" "{PMID:Hufnagel 2015:25480986}, {DOI:Hufnagel 2015:10.1136/jmedgenet-2014-102856}" "" "NM_001166111.1 Arg1099Gln" "" "Germline" "yes" "" "0" "" "" "g.7556710G>A" "" "pathogenic" "" "0000053138" "2" "90" "19" "7623834" "7623834" "subst" "1.62493E-5" "00006" "PNPLA6_000002" "g.7623834G>A" "" "{PMID:Hufnagel 2015:25480986}, {DOI:Hufnagel 2015:10.1136/jmedgenet-2014-102856}" "" "NM_001166111.1 Gly1176Ser" "" "Germline" "yes" "rs142422525" "0" "" "" "g.7558948G>A" "" "pathogenic" "" "0000053139" "1" "90" "19" "7620614" "7620617" "dup" "0" "00006" "PNPLA6_000003" "g.7620614_7620617dup" "" "{PMID:Hufnagel 2015:25480986}, {DOI:Hufnagel 2015:10.1136/jmedgenet-2014-102856}" "" "NM_001166111.1:c.3091–3092insAGCC" "" "Unknown" "yes" "" "0" "" "" "g.7555728_7555731dup" "" "pathogenic" "" "0000053140" "2" "90" "19" "7622128" "7622128" "subst" "0" "00006" "PNPLA6_000004" "g.7622128G>C" "" "{PMID:Hufnagel 2015:25480986}, {DOI:Hufnagel 2015:10.1136/jmedgenet-2014-102856}" "" "NM_001166111.1 Gly1129Arg" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Unknown" "yes" "" "0" "" "" "g.7557242G>M" "" "pathogenic" "" "0000053141" "1" "90" "19" "7615317" "7615317" "subst" "0" "00006" "PNPLA6_000005" "g.7615317T>G" "" "{PMID:Hufnagel 2015:25480986}, {DOI:Hufnagel 2015:10.1136/jmedgenet-2014-102856}" "" "NM_001166111.1:c.1973+2T>G" "" "Unknown" "yes" "" "0" "" "" "g.7550431T>G" "" "pathogenic" "" "0000053142" "2" "90" "19" "7623952" "7623952" "subst" "4.06105E-6" "00006" "PNPLA6_000006" "g.7623952T>C" "" "{PMID:Hufnagel 2015:25480986}, {DOI:Hufnagel 2015:10.1136/jmedgenet-2014-102856}" "" "NM_001166111.1 Val1215Ala" "" "Unknown" "yes" "" "0" "" "" "g.7559066T>C" "" "pathogenic" "" "0000053143" "1" "90" "19" "7623952" "7623952" "subst" "4.06105E-6" "00006" "PNPLA6_000006" "g.7623952T>C" "" "{PMID:Hufnagel 2015:25480986}, {DOI:Hufnagel 2015:10.1136/jmedgenet-2014-102856}" "" "NM_001166111.1 Val1215Ala" "" "Unknown" "yes" "" "0" "" "" "g.7559066T>C" "" "pathogenic" "" "0000053144" "2" "90" "19" "7607620" "7617523" "dup" "0" "00006" "PNPLA6_000007" "g.7607620_7617523dup" "" "{PMID:Hufnagel 2015:25480986}, {DOI:Hufnagel 2015:10.1136/jmedgenet-2014-102856}" "" "dup(ex14-20)" "" "Unknown" "yes" "" "0" "" "" "g.7542734_7552637dup" "" "pathogenic" "" "0000053145" "1" "90" "19" "7620614" "7620617" "dup" "0" "00006" "PNPLA6_000003" "g.7620614_7620617dup" "" "{PMID:Hufnagel 2015:25480986}, {DOI:Hufnagel 2015:10.1136/jmedgenet-2014-102856}" "" "NM_001166111.1:c.3091–3092insAGCC" "" "Unknown" "yes" "" "0" "" "" "g.7555728_7555731dup" "" "pathogenic" "" "0000053146" "2" "90" "19" "7622128" "7622128" "subst" "0" "00006" "PNPLA6_000004" "g.7622128G>C" "" "{PMID:Hufnagel 2015:25480986}, {DOI:Hufnagel 2015:10.1136/jmedgenet-2014-102856}" "" "NM_001166111.1 Gly1129Arg" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Unknown" "yes" "" "0" "" "" "g.7557242G>M" "" "pathogenic" "" "0000053147" "1" "90" "19" "7620614" "7620617" "dup" "0" "00006" "PNPLA6_000003" "g.7620614_7620617dup" "" "{PMID:Hufnagel 2015:25480986}, {DOI:Hufnagel 2015:10.1136/jmedgenet-2014-102856}" "" "NM_001166111.1:c.3091–3092insAGCC" "" "Germline" "yes" "" "0" "" "" "g.7555728_7555731dup" "" "pathogenic" "" "0000053148" "2" "90" "19" "7615958" "7615958" "subst" "0" "00006" "PNPLA6_000008" "g.7615958G>C" "" "{PMID:Hufnagel 2015:25480986}, {DOI:Hufnagel 2015:10.1136/jmedgenet-2014-102856}" "" "NM_001166111.1 .Gly726Arg" "" "Germline" "yes" "" "0" "" "" "g.7551072G>C" "" "pathogenic" "" "0000249254" "0" "10" "19" "7619760" "7619760" "subst" "0.318798" "02325" "PNPLA6_000025" "g.7619760A>C" "" "" "" "PNPLA6(NM_001166111.2):c.2665-19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7554874A>C" "" "benign" "" "0000249255" "0" "10" "19" "7620116" "7620116" "subst" "0.314144" "02325" "PNPLA6_000027" "g.7620116A>G" "" "" "" "PNPLA6(NM_001166111.2):c.2848-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7555230A>G" "" "benign" "" "0000254958" "0" "30" "19" "7600899" "7600899" "subst" "0.000161238" "01943" "PNPLA6_000010" "g.7600899A>G" "" "" "" "PNPLA6(NM_001166111.1):c.252A>G (p.R84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7536013A>G" "" "likely benign" "" "0000294060" "0" "10" "19" "7615304" "7615304" "subst" "0.000612867" "02330" "PNPLA6_000020" "g.7615304C>G" "" "" "" "PNPLA6(NM_001166111.1):c.1962C>G (p.R654=), PNPLA6(NM_001166111.2):c.1962C>G (p.R654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7550418C>G" "" "benign" "" "0000294061" "0" "10" "19" "7615942" "7615942" "subst" "0.00135057" "02330" "PNPLA6_000022" "g.7615942G>A" "" "" "" "PNPLA6(NM_001166111.1):c.2160G>A (p.L720=), PNPLA6(NM_001166111.2):c.2160G>A (p.L720=), PNPLA6(NM_006702.5):c.2016G>A (p.L672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7551056G>A" "" "benign" "" "0000294062" "0" "10" "19" "7616233" "7616233" "subst" "4.47945E-5" "02330" "PNPLA6_000023" "g.7616233C>T" "" "" "" "PNPLA6(NM_001166111.2):c.2212-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7551347C>T" "" "benign" "" "0000294063" "0" "50" "19" "7620512" "7620512" "subst" "8.16707E-6" "02330" "PNPLA6_000028" "g.7620512G>A" "" "" "" "PNPLA6(NM_001166111.2):c.2986G>A (p.V996I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7555626G>A" "" "VUS" "" "0000294064" "0" "30" "19" "7623941" "7623941" "subst" "0.0106847" "02330" "PNPLA6_000031" "g.7623941G>A" "" "" "" "PNPLA6(NM_001166111.2):c.3633G>A (p.Q1211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7559055G>A" "" "likely benign" "" "0000294065" "0" "50" "19" "7625602" "7625602" "subst" "8.12559E-6" "02330" "PNPLA6_000033" "g.7625602G>T" "" "" "" "PNPLA6(NM_001166111.2):c.3798G>T (p.M1266I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7560716G>T" "" "VUS" "" "0000294066" "0" "10" "19" "7626134" "7626134" "subst" "0.00116291" "02330" "PNPLA6_000034" "g.7626134C>T" "" "" "" "PNPLA6(NM_001166111.1):c.3984C>T (p.A1328=), PNPLA6(NM_001166111.2):c.3984C>T (p.A1328=), PNPLA6(NM_006702.5):c.3840C>T (p.A1280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7561248C>T" "" "benign" "" "0000294067" "0" "30" "19" "7604786" "7604786" "subst" "0.00360045" "02330" "PNPLA6_000011" "g.7604786C>T" "" "" "" "PNPLA6(NM_001166111.2):c.441-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7539900C>T" "" "likely benign" "" "0000294068" "0" "10" "19" "7605015" "7605015" "subst" "0.00199319" "02330" "PNPLA6_000013" "g.7605015G>A" "" "" "" "PNPLA6(NM_001166111.2):c.582-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7540129G>A" "" "benign" "" "0000297197" "0" "10" "19" "7606908" "7606908" "subst" "0.162394" "02325" "PNPLA6_000016" "g.7606908G>C" "" "" "" "PNPLA6(NM_001166111.2):c.1234G>C (p.A412P), PNPLA6(NM_006702.5):c.1090G>C (p.A364P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542022G>C" "" "benign" "" "0000297198" "0" "10" "19" "7607441" "7607441" "subst" "0.273724" "02325" "PNPLA6_000017" "g.7607441C>T" "" "" "" "PNPLA6(NM_001166111.2):c.1280-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542555C>T" "" "benign" "" "0000297199" "0" "10" "19" "7607564" "7607564" "subst" "0.638979" "02325" "PNPLA6_000018" "g.7607564T>C" "" "" "" "PNPLA6(NM_001166111.2):c.1389+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542678T>C" "" "benign" "" "0000297200" "0" "10" "19" "7615903" "7615903" "subst" "0.201651" "02325" "PNPLA6_000021" "g.7615903G>A" "" "" "" "PNPLA6(NM_001166111.2):c.2121G>A (p.P707=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7551017G>A" "" "benign" "" "0000297201" "0" "30" "19" "7618859" "7618859" "subst" "0.00178318" "02325" "PNPLA6_000024" "g.7618859G>A" "" "" "" "PNPLA6(NM_001166111.1):c.2389G>A (p.V797M), PNPLA6(NM_001166111.2):c.2389G>A (p.V797M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7553973G>A" "" "likely benign" "" "0000297202" "0" "10" "19" "7619850" "7619850" "subst" "0.0029131" "02325" "PNPLA6_000026" "g.7619850C>T" "" "" "" "PNPLA6(NM_001166111.2):c.2736C>T (p.G912=), PNPLA6(NM_006702.5):c.2592C>T (p.G864=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7554964C>T" "" "benign" "" "0000297203" "0" "10" "19" "7605566" "7605566" "subst" "0.102024" "02325" "PNPLA6_000014" "g.7605566C>T" "" "" "" "PNPLA6(NM_001166111.2):c.792C>T (p.N264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7540680C>T" "" "benign" "" "0000298961" "0" "70" "19" "7625552" "7625552" "subst" "2.03103E-5" "02329" "PNPLA6_000032" "g.7625552G>A" "" "" "" "PNPLA6(NM_001166111.2):c.3748G>A (p.G1250R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7560666G>A" "" "likely pathogenic" "" "0000298962" "0" "70" "19" "7604940" "7604940" "subst" "0" "02329" "PNPLA6_000012" "g.7604940G>A" "" "" "" "PNPLA6(NM_001166111.2):c.577G>A (p.V193I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7540054G>A" "" "likely pathogenic" "" "0000301096" "0" "30" "19" "7618859" "7618859" "subst" "0.00178318" "02326" "PNPLA6_000024" "g.7618859G>A" "" "" "" "PNPLA6(NM_001166111.1):c.2389G>A (p.V797M), PNPLA6(NM_001166111.2):c.2389G>A (p.V797M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7553973G>A" "" "likely benign" "" "0000306030" "0" "30" "19" "7606431" "7606431" "subst" "0" "01943" "PNPLA6_000015" "g.7606431C>T" "" "" "" "PNPLA6(NM_001166111.1):c.1056C>T (p.F352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7541545C>T" "" "likely benign" "" "0000306031" "0" "50" "19" "7600768" "7600768" "subst" "0.000372462" "01943" "PNPLA6_000009" "g.7600768G>A" "" "" "" "PNPLA6(NM_001166111.1):c.121G>A (p.G41S), PNPLA6(NM_001166114.2):c.94G>A (p.(Gly32Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7535882G>A" "" "VUS" "" "0000306032" "0" "50" "19" "7607714" "7607714" "subst" "3.68768E-5" "01943" "PNPLA6_000019" "g.7607714C>T" "" "" "" "PNPLA6(NM_001166111.1):c.1457C>T (p.S486L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542828C>T" "" "VUS" "" "0000306033" "0" "30" "19" "7618859" "7618859" "subst" "0.00178318" "01943" "PNPLA6_000024" "g.7618859G>A" "" "" "" "PNPLA6(NM_001166111.1):c.2389G>A (p.V797M), PNPLA6(NM_001166111.2):c.2389G>A (p.V797M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7553973G>A" "" "likely benign" "" "0000306034" "0" "30" "19" "7622049" "7622049" "subst" "4.92397E-5" "01943" "PNPLA6_000029" "g.7622049C>G" "" "" "" "PNPLA6(NM_001166111.1):c.3311-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7557163C>G" "" "likely benign" "" "0000306035" "0" "30" "19" "7623833" "7623833" "subst" "0.000593091" "01943" "PNPLA6_000030" "g.7623833C>T" "" "" "" "PNPLA6(NM_001166111.1):c.3525C>T (p.S1175=), PNPLA6(NM_001166111.2):c.3525C>T (p.S1175=), PNPLA6(NM_006702.5):c.3381C>T (p.S1127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7558947C>T" "" "likely benign" "" "0000306036" "0" "10" "19" "7626134" "7626134" "subst" "0.00116291" "01943" "PNPLA6_000034" "g.7626134C>T" "" "" "" "PNPLA6(NM_001166111.1):c.3984C>T (p.A1328=), PNPLA6(NM_001166111.2):c.3984C>T (p.A1328=), PNPLA6(NM_006702.5):c.3840C>T (p.A1280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7561248C>T" "" "benign" "" "0000306037" "0" "10" "19" "7626428" "7626428" "subst" "0.00506407" "01943" "PNPLA6_000035" "g.7626428G>A" "" "" "" "PNPLA6(NM_001166111.1):c.4108G>A (p.G1370S, p.(Gly1370Ser)), PNPLA6(NM_001166111.2):c.4108G>A (p.G1370S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7561542G>A" "" "benign" "" "0000338717" "0" "10" "19" "7599060" "7599060" "subst" "0" "02327" "PNPLA6_000036" "g.7599060T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7534174T>C" "" "benign" "" "0000338718" "0" "10" "19" "7599735" "7599735" "subst" "0" "02327" "PNPLA6_000037" "g.7599735A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7534849A>C" "" "benign" "" "0000338719" "0" "10" "19" "7607441" "7607441" "subst" "0.273724" "02327" "PNPLA6_000017" "g.7607441C>T" "" "" "" "PNPLA6(NM_001166111.2):c.1280-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542555C>T" "" "benign" "" "0000338720" "0" "10" "19" "7607564" "7607564" "subst" "0.638979" "02327" "PNPLA6_000018" "g.7607564T>C" "" "" "" "PNPLA6(NM_001166111.2):c.1389+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542678T>C" "" "benign" "" "0000338730" "0" "10" "19" "7619760" "7619760" "subst" "0.318798" "02327" "PNPLA6_000025" "g.7619760A>C" "" "" "" "PNPLA6(NM_001166111.2):c.2665-19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7554874A>C" "" "benign" "" "0000338731" "0" "10" "19" "7620116" "7620116" "subst" "0.314144" "02327" "PNPLA6_000027" "g.7620116A>G" "" "" "" "PNPLA6(NM_001166111.2):c.2848-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7555230A>G" "" "benign" "" "0000338732" "0" "30" "19" "7620272" "7620272" "subst" "0" "02327" "PNPLA6_000040" "g.7620272C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7555386C>T" "" "likely benign" "" "0000338733" "0" "10" "19" "7621475" "7621475" "subst" "0.125767" "02327" "PNPLA6_000041" "g.7621475T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7556589T>G" "" "benign" "" "0000340441" "0" "10" "19" "7619522" "7619522" "subst" "0.0267831" "02327" "PNPLA6_000039" "g.7619522G>A" "" "" "" "PNPLA6(NM_006702.4):c.2433G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7554636G>A" "" "benign" "" "0000340698" "0" "10" "19" "7605566" "7605566" "subst" "0.102024" "02327" "PNPLA6_000014" "g.7605566C>T" "" "" "" "PNPLA6(NM_001166111.2):c.792C>T (p.N264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7540680C>T" "" "benign" "" "0000340931" "0" "10" "19" "7615903" "7615903" "subst" "0.201651" "02327" "PNPLA6_000021" "g.7615903G>A" "" "" "" "PNPLA6(NM_001166111.2):c.2121G>A (p.P707=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7551017G>A" "" "benign" "" "0000341399" "0" "10" "19" "7606908" "7606908" "subst" "0.162394" "02327" "PNPLA6_000016" "g.7606908G>C" "" "" "" "PNPLA6(NM_001166111.2):c.1234G>C (p.A412P), PNPLA6(NM_006702.5):c.1090G>C (p.A364P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542022G>C" "" "benign" "" "0000341745" "0" "50" "19" "7623855" "7623855" "subst" "2.84354E-5" "02327" "PNPLA6_000042" "g.7623855C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7558969C>T" "" "VUS" "" "0000341844" "0" "50" "19" "7626396" "7626396" "subst" "0" "02327" "PNPLA6_000043" "g.7626396G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7561510G>A" "" "VUS" "" "0000345652" "0" "50" "19" "7623834" "7623834" "subst" "1.62493E-5" "02327" "PNPLA6_000002" "g.7623834G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7558948G>A" "" "VUS" "" "0000351364" "0" "30" "19" "7604786" "7604786" "subst" "0.00360045" "02327" "PNPLA6_000011" "g.7604786C>T" "" "" "" "PNPLA6(NM_001166111.2):c.441-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7539900C>T" "" "likely benign" "" "0000368957" "0" "90" "19" "7621595" "7621595" "subst" "4.06161E-6" "01807" "PNPLA6_000044" "g.7621595C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.7556709C>T" "" "pathogenic" "" "0000568809" "0" "30" "19" "7598417" "7598417" "subst" "0.000539162" "01804" "MCOLN1_000024" "g.7598417C>T" "" "" "" "MCOLN1(NM_020533.2):c.1584C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7533531C>T" "" "likely benign" "" "0000568812" "0" "10" "19" "7600836" "7600836" "subst" "0.000643055" "02330" "MCOLN1_000027" "g.7600836C>T" "" "" "" "PNPLA6(NM_001166111.1):c.189C>T (p.I63=), PNPLA6(NM_001166111.2):c.189C>T (p.I63=), PNPLA6(NM_006702.5):c.45C>T (p.I15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7535950C>T" "" "benign" "" "0000568813" "0" "30" "19" "7600836" "7600836" "subst" "0.000643055" "01943" "MCOLN1_000027" "g.7600836C>T" "" "" "" "PNPLA6(NM_001166111.1):c.189C>T (p.I63=), PNPLA6(NM_001166111.2):c.189C>T (p.I63=), PNPLA6(NM_006702.5):c.45C>T (p.I15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7535950C>T" "" "likely benign" "" "0000568814" "0" "10" "19" "7601440" "7601440" "subst" "0" "02330" "MCOLN1_000028" "g.7601440T>A" "" "" "" "PNPLA6(NM_001166111.2):c.440+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7536554T>A" "" "benign" "" "0000568815" "0" "30" "19" "7605560" "7605560" "subst" "0" "01943" "PNPLA6_000045" "g.7605560C>T" "" "" "" "PNPLA6(NM_001166111.1):c.786C>T (p.S262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7540674C>T" "" "likely benign" "" "0000568816" "0" "10" "19" "7606329" "7606329" "subst" "0" "02330" "PNPLA6_000046" "g.7606329G>A" "" "" "" "PNPLA6(NM_001166111.2):c.1032+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7541443G>A" "" "benign" "" "0000568817" "0" "10" "19" "7606340" "7606340" "subst" "0" "02330" "PNPLA6_000047" "g.7606340C>A" "" "" "" "PNPLA6(NM_001166111.2):c.1032+20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7541454C>A" "" "benign" "" "0000568818" "0" "30" "19" "7606511" "7606511" "subst" "0.000273263" "01943" "PNPLA6_000048" "g.7606511C>T" "" "" "" "PNPLA6(NM_001166111.1):c.1136C>T (p.P379L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7541625C>T" "" "likely benign" "" "0000568819" "0" "90" "19" "7606944" "7606944" "dup" "0" "01943" "PNPLA6_000049" "g.7606944dup" "" "" "" "PNPLA6(NM_001166111.1):c.1270dupG (p.D424Gfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542058dup" "" "pathogenic" "" "0000568820" "0" "10" "19" "7607429" "7607429" "subst" "0" "02330" "PNPLA6_000050" "g.7607429C>T" "" "" "" "PNPLA6(NM_001166111.2):c.1280-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542543C>T" "" "benign" "" "0000568821" "0" "30" "19" "7607529" "7607529" "subst" "0.000139177" "01943" "PNPLA6_000051" "g.7607529C>T" "" "" "" "PNPLA6(NM_001166111.1):c.1362C>T (p.S454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542643C>T" "" "likely benign" "" "0000568822" "0" "30" "19" "7607741" "7607741" "subst" "0.00476019" "02325" "PNPLA6_000052" "g.7607741C>T" "" "" "" "PNPLA6(NM_001166111.1):c.1484C>T (p.(Pro495Leu)), PNPLA6(NM_001166111.2):c.1484C>T (p.P495L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542855C>T" "" "likely benign" "" "0000568823" "0" "30" "19" "7607741" "7607741" "subst" "0.00476019" "02326" "PNPLA6_000052" "g.7607741C>T" "" "" "" "PNPLA6(NM_001166111.1):c.1484C>T (p.(Pro495Leu)), PNPLA6(NM_001166111.2):c.1484C>T (p.P495L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542855C>T" "" "likely benign" "" "0000568824" "0" "30" "19" "7607769" "7607769" "subst" "0.00248862" "01943" "PNPLA6_000053" "g.7607769C>T" "" "" "" "PNPLA6(NM_001166111.1):c.1512C>T (p.I504=), PNPLA6(NM_001166111.2):c.1512C>T (p.I504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542883C>T" "" "likely benign" "" "0000568825" "0" "50" "19" "7607956" "7607956" "subst" "2.44934E-5" "02330" "PNPLA6_000054" "g.7607956C>T" "" "" "" "PNPLA6(NM_001166111.2):c.1621C>T (p.R541C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7543070C>T" "" "VUS" "" "0000568826" "0" "50" "19" "7607980" "7607985" "del" "0" "01943" "PNPLA6_000055" "g.7607980_7607985del" "" "" "" "PNPLA6(NM_001166111.1):c.1635+10_1635+15delACCCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7543094_7543099del" "" "VUS" "" "0000568827" "0" "10" "19" "7614912" "7614912" "subst" "8.12473E-6" "02330" "PNPLA6_000056" "g.7614912G>T" "" "" "" "PNPLA6(NM_001166111.2):c.1755G>T (p.A585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7550026G>T" "" "benign" "" "0000568828" "0" "50" "19" "7614946" "7614946" "subst" "4.06197E-6" "02327" "PNPLA6_000057" "g.7614946C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7550060C>G" "" "VUS" "" "0000568829" "0" "30" "19" "7615304" "7615304" "subst" "0.000612867" "01943" "PNPLA6_000020" "g.7615304C>G" "" "" "" "PNPLA6(NM_001166111.1):c.1962C>G (p.R654=), PNPLA6(NM_001166111.2):c.1962C>G (p.R654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7550418C>G" "" "likely benign" "" "0000568830" "0" "10" "19" "7615942" "7615942" "subst" "0.00135057" "01943" "PNPLA6_000022" "g.7615942G>A" "" "" "" "PNPLA6(NM_001166111.1):c.2160G>A (p.L720=), PNPLA6(NM_001166111.2):c.2160G>A (p.L720=), PNPLA6(NM_006702.5):c.2016G>A (p.L672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7551056G>A" "" "benign" "" "0000568831" "0" "50" "19" "7615974" "7615974" "subst" "0" "01943" "PNPLA6_000058" "g.7615974T>C" "" "" "" "PNPLA6(NM_001166111.1):c.2192T>C (p.I731T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7551088T>C" "" "VUS" "" "0000568832" "0" "10" "19" "7619450" "7619450" "subst" "1.62921E-5" "02330" "PNPLA6_000059" "g.7619450G>A" "" "" "" "PNPLA6(NM_001166111.2):c.2505G>A (p.E835=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7554564G>A" "" "benign" "" "0000568834" "0" "50" "19" "7620495" "7620495" "subst" "0.000234029" "01943" "PNPLA6_000061" "g.7620495G>C" "" "" "" "PNPLA6(NM_001166111.1):c.2969G>C (p.G990A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7555609G>C" "" "VUS" "" "0000568835" "0" "30" "19" "7620501" "7620501" "subst" "8.20533E-6" "02330" "PNPLA6_000062" "g.7620501C>T" "" "" "" "PNPLA6(NM_001166111.2):c.2975C>T (p.S992L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7555615C>T" "" "likely benign" "" "0000568836" "0" "30" "19" "7620508" "7620508" "subst" "2.45373E-5" "02330" "PNPLA6_000063" "g.7620508C>T" "" "" "" "PNPLA6(NM_001166111.2):c.2982C>T (p.I994=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7555622C>T" "" "likely benign" "" "0000568837" "0" "50" "19" "7620559" "7620559" "subst" "0.000297364" "01943" "PNPLA6_000064" "g.7620559C>T" "" "" "" "PNPLA6(NM_001166111.1):c.3033C>T (p.G1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7555673C>T" "" "VUS" "" "0000568838" "0" "50" "19" "7620585" "7620585" "subst" "0" "02327" "PNPLA6_000065" "g.7620585G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7555699G>A" "" "VUS" "" "0000568839" "0" "70" "19" "7620614" "7620617" "dup" "0" "02325" "PNPLA6_000003" "g.7620614_7620617dup" "" "" "" "PNPLA6(NM_001166111.2):c.3088_3091dupAGCC (p.R1031Qfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7555728_7555731dup" "" "likely pathogenic" "" "0000568840" "0" "30" "19" "7621334" "7621334" "subst" "0.00235123" "01804" "PNPLA6_000066" "g.7621334C>T" "" "" "" "PNPLA6(NM_001166111.1):c.3124-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7556448C>T" "" "likely benign" "" "0000568841" "0" "30" "19" "7621340" "7621340" "subst" "3.2486E-5" "01943" "PNPLA6_000067" "g.7621340G>C" "" "" "" "PNPLA6(NM_001166111.1):c.3125G>C (p.S1042T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7556454G>C" "" "likely benign" "" "0000568842" "0" "30" "19" "7621371" "7621371" "subst" "0" "01943" "PNPLA6_000068" "g.7621371C>T" "" "" "" "PNPLA6(NM_001166111.1):c.3156C>T (p.D1052=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7556485C>T" "" "likely benign" "" "0000568843" "0" "30" "19" "7621564" "7621564" "subst" "0.000471131" "01943" "PNPLA6_000069" "g.7621564C>T" "" "" "" "PNPLA6(NM_001166111.1):c.3264C>T (p.N1088=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7556678C>T" "" "likely benign" "" "0000568844" "0" "10" "19" "7621582" "7621582" "subst" "0.000523926" "02330" "PNPLA6_000070" "g.7621582C>T" "" "" "" "PNPLA6(NM_001166111.2):c.3282C>T (p.T1094=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7556696C>T" "" "benign" "" "0000568845" "0" "10" "19" "7623833" "7623833" "subst" "0.000593091" "02330" "PNPLA6_000030" "g.7623833C>T" "" "" "" "PNPLA6(NM_001166111.1):c.3525C>T (p.S1175=), PNPLA6(NM_001166111.2):c.3525C>T (p.S1175=), PNPLA6(NM_006702.5):c.3381C>T (p.S1127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7558947C>T" "" "benign" "" "0000568846" "0" "10" "19" "7624025" "7624025" "subst" "4.0621E-6" "02330" "PNPLA6_000071" "g.7624025C>T" "" "" "" "PNPLA6(NM_001166111.2):c.3717C>T (p.F1239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7559139C>T" "" "benign" "" "0000568847" "0" "90" "19" "7625651" "7625651" "subst" "1.22363E-5" "01943" "PNPLA6_000072" "g.7625651G>A" "" "" "" "PNPLA6(NM_001166111.1):c.3846+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7560765G>A" "" "pathogenic" "" "0000568848" "0" "30" "19" "7626086" "7626086" "subst" "0.00010045" "01943" "PNPLA6_000073" "g.7626086G>A" "" "" "" "PNPLA6(NM_001166111.1):c.3944-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7561200G>A" "" "likely benign" "" "0000568849" "0" "30" "19" "7626131" "7626131" "subst" "6.74895E-5" "01943" "PNPLA6_000074" "g.7626131C>T" "" "" "" "PNPLA6(NM_001166111.1):c.3981C>T (p.D1327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7561245C>T" "" "likely benign" "" "0000568850" "0" "10" "19" "7626428" "7626428" "subst" "0.00506407" "02330" "PNPLA6_000035" "g.7626428G>A" "" "" "" "PNPLA6(NM_001166111.1):c.4108G>A (p.G1370S, p.(Gly1370Ser)), PNPLA6(NM_001166111.2):c.4108G>A (p.G1370S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7561542G>A" "" "benign" "" "0000617941" "0" "30" "19" "7599335" "7599335" "subst" "0" "01804" "MCOLN1_000030" "g.7599335A>C" "" "" "" "PNPLA6(NM_001166112.1):c.-196+3A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7534449A>C" "" "likely benign" "" "0000617942" "0" "50" "19" "7600805" "7600805" "subst" "0" "01943" "MCOLN1_000031" "g.7600805C>T" "" "" "" "PNPLA6(NM_001166111.1):c.158C>T (p.P53L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7535919C>T" "" "VUS" "" "0000617943" "0" "30" "19" "7606904" "7606904" "subst" "0.000120191" "01943" "PNPLA6_000078" "g.7606904C>A" "" "" "" "PNPLA6(NM_001166111.1):c.1230C>A (p.P410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542018C>A" "" "likely benign" "" "0000617944" "0" "10" "19" "7607769" "7607769" "subst" "0.00248862" "02330" "PNPLA6_000053" "g.7607769C>T" "" "" "" "PNPLA6(NM_001166111.1):c.1512C>T (p.I504=), PNPLA6(NM_001166111.2):c.1512C>T (p.I504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542883C>T" "" "benign" "" "0000617945" "0" "30" "19" "7622115" "7622115" "subst" "0" "01943" "PNPLA6_000079" "g.7622115C>T" "" "" "" "PNPLA6(NM_001166111.1):c.3372C>T (p.C1124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7557229C>T" "" "likely benign" "" "0000617946" "0" "30" "19" "7622148" "7622148" "subst" "6.14563E-5" "01943" "PNPLA6_000080" "g.7622148C>T" "" "" "" "PNPLA6(NM_001166111.1):c.3405C>T (p.G1135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7557262C>T" "" "likely benign" "" "0000617947" "0" "30" "19" "7623782" "7623782" "subst" "2.84879E-5" "01943" "PNPLA6_000081" "g.7623782C>T" "" "" "" "PNPLA6(NM_001166111.1):c.3474C>T (p.D1158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7558896C>T" "" "likely benign" "" "0000624104" "0" "30" "19" "7605599" "7605599" "subst" "6.49715E-5" "01943" "PNPLA6_000075" "g.7605599G>A" "" "" "" "PNPLA6(NM_001166111.1):c.822+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7540713G>A" "" "likely benign" "" "0000624105" "0" "30" "19" "7605947" "7605947" "subst" "5.7006E-5" "01943" "PNPLA6_000076" "g.7605947C>A" "" "" "" "PNPLA6(NM_001166111.1):c.951+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7541061C>A" "" "likely benign" "" "0000624106" "0" "90" "19" "7606406" "7606406" "dup" "0" "01943" "PNPLA6_000077" "g.7606406dup" "" "" "" "PNPLA6(NM_001166111.1):c.1033-2dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7541520dup" "" "pathogenic" "" "0000650065" "1" "50" "19" "7623941" "7623941" "subst" "0.0106847" "03575" "PNPLA6_000031" "g.7623941G>A" "22/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 22 heterozygous, no homozygous; {DB:CLININrs112133109}" "Germline" "" "rs112133109" "0" "" "" "g.7559055G>A" "" "VUS" "" "0000658694" "0" "30" "19" "7599791" "7599791" "subst" "0" "01943" "MCOLN1_000032" "g.7599791G>A" "" "" "" "PNPLA6(NM_001166111.1):c.-43+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7534905G>A" "" "likely benign" "" "0000681542" "0" "30" "19" "7600008" "7600008" "subst" "0" "01804" "MCOLN1_000033" "g.7600008T>C" "" "" "" "PNPLA6(NM_001166113.1):c.-118-5T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681543" "0" "30" "19" "7600693" "7600693" "subst" "2.17938E-5" "01943" "MCOLN1_000034" "g.7600693G>A" "" "" "" "PNPLA6(NM_001166111.1):c.46G>A (p.G16R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681544" "0" "30" "19" "7600724" "7600724" "subst" "0.000144128" "01943" "MCOLN1_000035" "g.7600724T>C" "" "" "" "PNPLA6(NM_001166111.1):c.77T>C (p.V26A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681545" "0" "30" "19" "7618885" "7618885" "subst" "0.000313064" "01943" "PNPLA6_000083" "g.7618885C>T" "" "" "" "PNPLA6(NM_001166111.1):c.2415C>T (p.H805=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692914" "0" "50" "19" "7607465" "7607465" "subst" "2.44646E-5" "01943" "PNPLA6_000084" "g.7607465G>A" "" "" "" "PNPLA6(NM_001166111.1):c.1298G>A (p.R433H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692915" "0" "50" "19" "7615521" "7615521" "subst" "0" "01943" "PNPLA6_000085" "g.7615521G>A" "" "" "" "PNPLA6(NM_001166111.1):c.2092G>A (p.G698S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692916" "0" "30" "19" "7618859" "7618859" "subst" "0.00178318" "02330" "PNPLA6_000024" "g.7618859G>A" "" "" "" "PNPLA6(NM_001166111.1):c.2389G>A (p.V797M), PNPLA6(NM_001166111.2):c.2389G>A (p.V797M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692917" "0" "50" "19" "7619907" "7619907" "subst" "4.54001E-6" "01943" "PNPLA6_000086" "g.7619907C>A" "" "" "" "PNPLA6(NM_001166111.1):c.2793C>A (p.H931Q), PNPLA6(NM_001166114.2):c.2763C>A (p.(His921Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000710264" "1" "90" "19" "7623982" "7623982" "subst" "0" "00006" "PNPLA6_000087" "g.7623982G>A" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.7559096G>A" "" "pathogenic" "" "0000727578" "0" "50" "19" "7605523" "7605523" "subst" "0" "01943" "PNPLA6_000088" "g.7605523A>G" "" "" "" "PNPLA6(NM_001166111.1):c.749A>G (p.K250R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000733190" "1" "70" "19" "7622077" "7622077" "subst" "0" "00000" "PNPLA6_000089" "g.7622077G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.7557191G>A" "" "likely pathogenic" "" "0000733624" "2" "70" "19" "7623855" "7623855" "subst" "2.84354E-5" "00000" "PNPLA6_000042" "g.7623855C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.7558969C>T" "" "likely pathogenic" "" "0000787356" "3" "50" "19" "7607951" "7607951" "subst" "4.07784E-6" "00006" "PNPLA6_000090" "g.7607951T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs1246639539" "0" "" "" "g.7543065T>C" "" "VUS" "" "0000809112" "0" "30" "19" "7601138" "7601138" "subst" "4.07777E-6" "02330" "MCOLN1_000038" "g.7601138T>C" "" "" "" "PNPLA6(NM_001166111.2):c.321T>C (p.Y107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809113" "0" "30" "19" "7620610" "7620610" "subst" "0" "02330" "PNPLA6_000091" "g.7620610C>T" "" "" "" "PNPLA6(NM_001166111.2):c.3084C>T (p.S1028=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809114" "0" "50" "19" "7623766" "7623766" "subst" "0.000126764" "01943" "PNPLA6_000092" "g.7623766C>T" "" "" "" "PNPLA6(NM_001166111.1):c.3458C>T (p.T1153M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809115" "0" "30" "19" "7623887" "7623887" "subst" "0.000113719" "02330" "PNPLA6_000093" "g.7623887T>C" "" "" "" "PNPLA6(NM_001166111.1):c.3579T>C (p.V1193=), PNPLA6(NM_001166111.2):c.3579T>C (p.V1193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809116" "0" "30" "19" "7623887" "7623887" "subst" "0.000113719" "01943" "PNPLA6_000093" "g.7623887T>C" "" "" "" "PNPLA6(NM_001166111.1):c.3579T>C (p.V1193=), PNPLA6(NM_001166111.2):c.3579T>C (p.V1193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855735" "0" "30" "19" "7605050" "7605050" "subst" "2.05469E-5" "01943" "PNPLA6_000094" "g.7605050C>T" "" "" "" "PNPLA6(NM_001166111.1):c.597C>T (p.F199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855736" "0" "10" "19" "7606908" "7606908" "subst" "0.162394" "02326" "PNPLA6_000016" "g.7606908G>C" "" "" "" "PNPLA6(NM_001166111.2):c.1234G>C (p.A412P), PNPLA6(NM_006702.5):c.1090G>C (p.A364P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855737" "0" "50" "19" "7625546" "7625546" "subst" "0.000174659" "01943" "PNPLA6_000097" "g.7625546C>G" "" "" "" "PNPLA6(NM_001166111.1):c.3742C>G (p.Q1248E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866357" "0" "30" "19" "7601172" "7601172" "subst" "0.000933224" "02330" "MCOLN1_000042" "g.7601172C>T" "" "" "" "PNPLA6(NM_001166111.2):c.342+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866358" "0" "30" "19" "7607475" "7607475" "subst" "1.62955E-5" "01943" "PNPLA6_000095" "g.7607475C>T" "" "" "" "PNPLA6(NM_001166111.1):c.1308C>T (p.F436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866359" "0" "50" "19" "7621399" "7621399" "subst" "0" "01943" "PNPLA6_000096" "g.7621399A>G" "" "" "" "PNPLA6(NM_001166111.1):c.3184A>G (p.T1062A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895190" "0" "30" "19" "7600836" "7600836" "subst" "0.000643055" "02326" "MCOLN1_000027" "g.7600836C>T" "" "" "" "PNPLA6(NM_001166111.1):c.189C>T (p.I63=), PNPLA6(NM_001166111.2):c.189C>T (p.I63=), PNPLA6(NM_006702.5):c.45C>T (p.I15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895191" "0" "30" "19" "7606291" "7606291" "subst" "0.00246588" "02330" "PNPLA6_000098" "g.7606291C>T" "" "" "" "PNPLA6(NM_001166111.2):c.1003C>T (p.L335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895192" "0" "30" "19" "7606554" "7606554" "subst" "0" "02330" "PNPLA6_000099" "g.7606554G>A" "" "" "" "PNPLA6(NM_001166111.2):c.1179G>A (p.P393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895193" "0" "30" "19" "7620245" "7620245" "subst" "0.000395191" "02330" "PNPLA6_000100" "g.7620245C>T" "" "" "" "PNPLA6(NM_001166111.2):c.2958C>T (p.G986=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895194" "0" "30" "19" "7620270" "7620270" "subst" "0.000843888" "02330" "PNPLA6_000101" "g.7620270C>T" "" "" "" "PNPLA6(NM_001166111.2):c.2966+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895195" "0" "30" "19" "7626134" "7626134" "subst" "0.00116291" "02326" "PNPLA6_000034" "g.7626134C>T" "" "" "" "PNPLA6(NM_001166111.1):c.3984C>T (p.A1328=), PNPLA6(NM_001166111.2):c.3984C>T (p.A1328=), PNPLA6(NM_006702.5):c.3840C>T (p.A1280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000905902" "0" "50" "19" "7604800" "7604802" "del" "0" "00000" "PNPLA6_000102" "g.7604800_7604802del" "" "{PMID:Zhu 2022:35456422}" "" "PNPLA6 c.297-4_297-2del, p.?" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.7539914_7539916del" "" "VUS" "ACMG" "0000915327" "0" "30" "19" "7615942" "7615942" "subst" "0.00135057" "02326" "PNPLA6_000022" "g.7615942G>A" "" "" "" "PNPLA6(NM_001166111.1):c.2160G>A (p.L720=), PNPLA6(NM_001166111.2):c.2160G>A (p.L720=), PNPLA6(NM_006702.5):c.2016G>A (p.L672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915328" "0" "30" "19" "7619850" "7619850" "subst" "0.0029131" "02326" "PNPLA6_000026" "g.7619850C>T" "" "" "" "PNPLA6(NM_001166111.2):c.2736C>T (p.G912=), PNPLA6(NM_006702.5):c.2592C>T (p.G864=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931131" "0" "30" "19" "7624054" "7624054" "subst" "0.000968393" "02330" "PNPLA6_000103" "g.7624054G>A" "" "" "" "PNPLA6(NM_001166111.2):c.3729+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951380" "0" "50" "19" "7600726" "7600726" "del" "0" "01804" "MCOLN1_000047" "g.7600726del" "" "" "" "PNPLA6(NM_001166111.1):c.79del (p.(Ala27ArgfsTer35))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951381" "0" "30" "19" "7607741" "7607741" "subst" "0.00476019" "01804" "PNPLA6_000052" "g.7607741C>T" "" "" "" "PNPLA6(NM_001166111.1):c.1484C>T (p.(Pro495Leu)), PNPLA6(NM_001166111.2):c.1484C>T (p.P495L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951382" "0" "30" "19" "7626428" "7626428" "subst" "0.00506407" "01804" "PNPLA6_000035" "g.7626428G>A" "" "" "" "PNPLA6(NM_001166111.1):c.4108G>A (p.G1370S, p.(Gly1370Ser)), PNPLA6(NM_001166111.2):c.4108G>A (p.G1370S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970044" "0" "30" "19" "7623833" "7623833" "subst" "0.000593091" "02326" "PNPLA6_000030" "g.7623833C>T" "" "" "" "PNPLA6(NM_001166111.1):c.3525C>T (p.S1175=), PNPLA6(NM_001166111.2):c.3525C>T (p.S1175=), PNPLA6(NM_006702.5):c.3381C>T (p.S1127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983698" "0" "30" "19" "7600768" "7600768" "subst" "0.000372462" "01804" "PNPLA6_000009" "g.7600768G>A" "" "" "" "PNPLA6(NM_001166111.1):c.121G>A (p.G41S), PNPLA6(NM_001166114.2):c.94G>A (p.(Gly32Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983699" "0" "90" "19" "7607968" "7607968" "subst" "0" "02327" "PNPLA6_000104" "g.7607968C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983700" "0" "30" "19" "7615532" "7615532" "subst" "8.44466E-6" "01804" "PNPLA6_000105" "g.7615532C>G" "" "" "" "PNPLA6(NM_001166114.2):c.2070+6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983701" "0" "50" "19" "7615991" "7615991" "subst" "0" "02327" "PNPLA6_000106" "g.7615991C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983702" "0" "50" "19" "7619907" "7619907" "subst" "4.54001E-6" "01804" "PNPLA6_000086" "g.7619907C>A" "" "" "" "PNPLA6(NM_001166111.1):c.2793C>A (p.H931Q), PNPLA6(NM_001166114.2):c.2763C>A (p.(His921Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983703" "0" "30" "19" "7620478" "7620478" "subst" "5.77834E-5" "02326" "PNPLA6_000107" "g.7620478C>A" "" "" "" "PNPLA6(NM_006702.5):c.2823-15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983704" "0" "30" "19" "7622176" "7622176" "subst" "3.74395E-5" "01804" "PNPLA6_000108" "g.7622176T>C" "" "" "" "PNPLA6(NM_001166114.2):c.3397+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983705" "0" "70" "19" "7623824" "7623824" "subst" "0" "02327" "PNPLA6_000109" "g.7623824C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001022088" "0" "70" "19" "7607980" "7607988" "delins" "0" "04796" "PNPLA6_000110" "g.7607980_7607988delinsGT" "" "" "" "NM_001166111.1:c.1635+10_1635+18delinsGT" "effect on RNA exon skipping" "Germline/De novo (untested)" "" "" "0" "" "" "g.7543094_7543102delinsGT" "" "likely pathogenic" "" "0001043230" "0" "70" "19" "7600729" "7600729" "subst" "0" "01804" "MCOLN1_000049" "g.7600729G>T" "" "" "" "PNPLA6(NM_001166114.2):c.55G>T (p.(Glu19*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001043231" "0" "50" "19" "7614790" "7614790" "subst" "0" "01804" "PNPLA6_000111" "g.7614790C>T" "" "" "" "PNPLA6(NM_001166114.2):c.1609-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043232" "0" "50" "19" "7619501" "7619501" "subst" "1.62721E-5" "01804" "PNPLA6_000112" "g.7619501A>T" "" "" "" "PNPLA6(NM_001166114.2):c.2526A>T (p.(Val842=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043233" "0" "50" "19" "7623811" "7623811" "subst" "8.12651E-6" "01804" "PNPLA6_000113" "g.7623811G>A" "" "" "" "PNPLA6(NM_001166114.2):c.3473G>A (p.(Ser1158Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056452" "0" "50" "19" "7605846" "7605846" "subst" "0" "01804" "PNPLA6_000114" "g.7605846C>G" "" "" "" "PNPLA6(NM_001166114.2):c.833C>G (p.(Ala278Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056453" "0" "50" "19" "7606293" "7606293" "subst" "0" "01804" "PNPLA6_000115" "g.7606293G>A" "" "" "" "PNPLA6(NM_001166114.2):c.978G>A (p.(Leu326=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056454" "0" "50" "19" "7620249" "7620249" "subst" "0" "01804" "PNPLA6_000116" "g.7620249G>A" "" "" "" "PNPLA6(NM_001166114.2):c.2932G>A (p.(Ala978Thr))" "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 PNPLA6 ## Count = 164 "{{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}}" "0000053137" "00016453" "90" "3152" "0" "3152" "0" "c.3152G>A" "r.(?)" "p.(Arg1051Gln)" "29" "0000053138" "00016453" "90" "3382" "0" "3382" "0" "c.3382G>A" "r.(?)" "p.(Gly1128Ser)" "31" "0000053139" "00016453" "90" "2944" "0" "2947" "0" "c.2944_2947dup" "r.(?)" "p.(Arg983Glnfs*38)" "27" "0000053140" "00016453" "90" "3241" "0" "3241" "0" "c.3241G>M" "r.(?)" "p.(Gly1081Arg)" "30" "0000053141" "00016453" "90" "1829" "2" "1829" "2" "c.1829+2T>G" "r.spl" "p.?" "18i" "0000053142" "00016453" "90" "3500" "0" "3500" "0" "c.3500T>C" "r.(?)" "p.(Val1167Ala)" "31" "0000053143" "00016453" "90" "3500" "0" "3500" "0" "c.3500T>C" "r.(?)" "p.(Val1167Ala)" "31" "0000053144" "00016453" "90" "1246" "-27" "2143" "1200" "c.1246-27_2143+1200dup" "r.(dup)" "p.?" "14i_21i" "0000053145" "00016453" "90" "2944" "0" "2947" "0" "c.2944_2947dup" "r.(?)" "p.(Arg983Glnfs*38)" "27" "0000053146" "00016453" "90" "3241" "0" "3241" "0" "c.3241G>M" "r.(?)" "p.(Gly1081Arg)" "30" "0000053147" "00016453" "90" "2944" "0" "2947" "0" "c.2944_2947dup" "r.(?)" "p.(Arg983Glnfs*38)" "27" "0000053148" "00016453" "90" "2032" "0" "2032" "0" "c.2032G>C" "r.(?)" "p.(Gly678Arg)" "20" "0000249254" "00016453" "10" "2521" "-19" "2521" "-19" "c.2521-19A>C" "r.(=)" "p.(=)" "" "0000249255" "00016453" "10" "2704" "-19" "2704" "-19" "c.2704-19A>G" "r.(=)" "p.(=)" "" "0000254958" "00016453" "30" "108" "0" "108" "0" "c.108A>G" "r.(?)" "p.(Arg36=)" "" "0000294060" "00016453" "10" "1818" "0" "1818" "0" "c.1818C>G" "r.(?)" "p.(Arg606=)" "" "0000294061" "00016453" "10" "2016" "0" "2016" "0" "c.2016G>A" "r.(?)" "p.(Leu672=)" "" "0000294062" "00016453" "10" "2068" "-15" "2068" "-15" "c.2068-15C>T" "r.(=)" "p.(=)" "" "0000294063" "00016453" "50" "2842" "0" "2842" "0" "c.2842G>A" "r.(?)" "p.(Val948Ile)" "" "0000294064" "00016453" "30" "3489" "0" "3489" "0" "c.3489G>A" "r.(?)" "p.(Gln1163=)" "" "0000294065" "00016453" "50" "3654" "0" "3654" "0" "c.3654G>T" "r.(?)" "p.(Met1218Ile)" "" "0000294066" "00016453" "10" "3840" "0" "3840" "0" "c.3840C>T" "r.(?)" "p.(Ala1280=)" "" "0000294067" "00016453" "30" "297" "-18" "297" "-18" "c.297-18C>T" "r.(=)" "p.(=)" "" "0000294068" "00016453" "10" "438" "-20" "438" "-20" "c.438-20G>A" "r.(=)" "p.(=)" "" "0000297197" "00016453" "10" "1090" "0" "1090" "0" "c.1090G>C" "r.(?)" "p.(Ala364Pro)" "" "0000297198" "00016453" "10" "1136" "-6" "1136" "-6" "c.1136-6C>T" "r.(=)" "p.(=)" "" "0000297199" "00016453" "10" "1245" "8" "1245" "8" "c.1245+8T>C" "r.(=)" "p.(=)" "" "0000297200" "00016453" "10" "1977" "0" "1977" "0" "c.1977G>A" "r.(?)" "p.(Pro659=)" "" "0000297201" "00016453" "30" "2245" "0" "2245" "0" "c.2245G>A" "r.(?)" "p.(Val749Met)" "" "0000297202" "00016453" "10" "2592" "0" "2592" "0" "c.2592C>T" "r.(?)" "p.(Gly864=)" "" "0000297203" "00016453" "10" "648" "0" "648" "0" "c.648C>T" "r.(?)" "p.(Asn216=)" "" "0000298961" "00016453" "70" "3604" "0" "3604" "0" "c.3604G>A" "r.(?)" "p.(Gly1202Arg)" "" "0000298962" "00016453" "70" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Val145Ile)" "" "0000301096" "00016453" "30" "2245" "0" "2245" "0" "c.2245G>A" "r.(?)" "p.(Val749Met)" "" "0000306030" "00016453" "30" "912" "0" "912" "0" "c.912C>T" "r.(?)" "p.(Phe304=)" "" "0000306031" "00016453" "50" "28" "-51" "28" "-51" "c.28-51G>A" "r.(=)" "p.(=)" "" "0000306032" "00016453" "50" "1313" "0" "1313" "0" "c.1313C>T" "r.(?)" "p.(Ser438Leu)" "" "0000306033" "00016453" "30" "2245" "0" "2245" "0" "c.2245G>A" "r.(?)" "p.(Val749Met)" "" "0000306034" "00016453" "30" "3167" "-5" "3167" "-5" "c.3167-5C>G" "r.spl?" "p.?" "" "0000306035" "00016453" "30" "3381" "0" "3381" "0" "c.3381C>T" "r.(?)" "p.(Ser1127=)" "" "0000306036" "00016453" "10" "3840" "0" "3840" "0" "c.3840C>T" "r.(?)" "p.(Ala1280=)" "" "0000306037" "00016453" "10" "3964" "0" "3964" "0" "c.3964G>A" "r.(?)" "p.(Gly1322Ser)" "" "0000338717" "00016453" "10" "-261" "0" "-261" "0" "c.-261T>C" "r.(?)" "p.(=)" "" "0000338718" "00016453" "10" "-96" "0" "-96" "0" "c.-96A>C" "r.(?)" "p.(=)" "" "0000338719" "00016453" "10" "1136" "-6" "1136" "-6" "c.1136-6C>T" "r.(=)" "p.(=)" "" "0000338720" "00016453" "10" "1245" "8" "1245" "8" "c.1245+8T>C" "r.(=)" "p.(=)" "" "0000338730" "00016453" "10" "2521" "-19" "2521" "-19" "c.2521-19A>C" "r.(=)" "p.(=)" "" "0000338731" "00016453" "10" "2704" "-19" "2704" "-19" "c.2704-19A>G" "r.(=)" "p.(=)" "" "0000338732" "00016453" "30" "2822" "19" "2822" "19" "c.2822+19C>T" "r.(=)" "p.(=)" "" "0000338733" "00016453" "10" "3096" "20" "3096" "20" "c.3096+20T>G" "r.(=)" "p.(=)" "" "0000340441" "00016453" "10" "2433" "0" "2433" "0" "c.2433G>A" "r.(?)" "p.(Ser811=)" "" "0000340698" "00016453" "10" "648" "0" "648" "0" "c.648C>T" "r.(?)" "p.(Asn216=)" "" "0000340931" "00016453" "10" "1977" "0" "1977" "0" "c.1977G>A" "r.(?)" "p.(Pro659=)" "" "0000341399" "00016453" "10" "1090" "0" "1090" "0" "c.1090G>C" "r.(?)" "p.(Ala364Pro)" "" "0000341745" "00016453" "50" "3403" "0" "3403" "0" "c.3403C>T" "r.(?)" "p.(Arg1135Trp)" "" "0000341844" "00016453" "50" "3932" "0" "3932" "0" "c.3932G>A" "r.(?)" "p.(Arg1311Gln)" "" "0000345652" "00016453" "50" "3382" "0" "3382" "0" "c.3382G>A" "r.(?)" "p.(Gly1128Ser)" "" "0000351364" "00016453" "30" "297" "-18" "297" "-18" "c.297-18C>T" "r.(=)" "p.(=)" "" "0000368957" "00016453" "90" "3151" "0" "3151" "0" "c.3151C>T" "r.(?)" "p.(Arg1051*)" "" "0000568809" "00016453" "30" "-904" "0" "-904" "0" "c.-904C>T" "r.(?)" "p.(=)" "" "0000568812" "00016453" "10" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Ile15=)" "" "0000568813" "00016453" "30" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Ile15=)" "" "0000568814" "00016453" "10" "296" "8" "296" "8" "c.296+8T>A" "r.(=)" "p.(=)" "" "0000568815" "00016453" "30" "642" "0" "642" "0" "c.642C>T" "r.(?)" "p.(Ser214=)" "" "0000568816" "00016453" "10" "888" "9" "888" "9" "c.888+9G>A" "r.(=)" "p.(=)" "" "0000568817" "00016453" "10" "888" "20" "888" "20" "c.888+20C>A" "r.(=)" "p.(=)" "" "0000568818" "00016453" "30" "992" "0" "992" "0" "c.992C>T" "r.(?)" "p.(Pro331Leu)" "" "0000568819" "00016453" "90" "1126" "0" "1126" "0" "c.1126dup" "r.(?)" "p.(Asp376GlyfsTer18)" "" "0000568820" "00016453" "10" "1136" "-18" "1136" "-18" "c.1136-18C>T" "r.(=)" "p.(=)" "" "0000568821" "00016453" "30" "1218" "0" "1218" "0" "c.1218C>T" "r.(?)" "p.(Ser406=)" "" "0000568822" "00016453" "30" "1340" "0" "1340" "0" "c.1340C>T" "r.(?)" "p.(Pro447Leu)" "" "0000568823" "00016453" "30" "1340" "0" "1340" "0" "c.1340C>T" "r.(?)" "p.(Pro447Leu)" "" "0000568824" "00016453" "30" "1368" "0" "1368" "0" "c.1368C>T" "r.(?)" "p.(Ile456=)" "" "0000568825" "00016453" "50" "1477" "0" "1477" "0" "c.1477C>T" "r.(?)" "p.(Arg493Cys)" "" "0000568826" "00016453" "50" "1491" "10" "1491" "15" "c.1491+10_1491+15del" "r.(=)" "p.(=)" "" "0000568827" "00016453" "10" "1611" "0" "1611" "0" "c.1611G>T" "r.(?)" "p.(Ala537=)" "" "0000568828" "00016453" "50" "1645" "0" "1645" "0" "c.1645C>G" "r.(?)" "p.(Arg549Gly)" "" "0000568829" "00016453" "30" "1818" "0" "1818" "0" "c.1818C>G" "r.(?)" "p.(Arg606=)" "" "0000568830" "00016453" "10" "2016" "0" "2016" "0" "c.2016G>A" "r.(?)" "p.(Leu672=)" "" "0000568831" "00016453" "50" "2048" "0" "2048" "0" "c.2048T>C" "r.(?)" "p.(Ile683Thr)" "" "0000568832" "00016453" "10" "2361" "0" "2361" "0" "c.2361G>A" "r.(?)" "p.(Glu787=)" "" "0000568834" "00016453" "50" "2825" "0" "2825" "0" "c.2825G>C" "r.(?)" "p.(Gly942Ala)" "" "0000568835" "00016453" "30" "2831" "0" "2831" "0" "c.2831C>T" "r.(?)" "p.(Ser944Leu)" "" "0000568836" "00016453" "30" "2838" "0" "2838" "0" "c.2838C>T" "r.(?)" "p.(Ile946=)" "" "0000568837" "00016453" "50" "2889" "0" "2889" "0" "c.2889C>T" "r.(?)" "p.(Gly963=)" "" "0000568838" "00016453" "50" "2915" "0" "2915" "0" "c.2915G>A" "r.(?)" "p.(Gly972Glu)" "" "0000568839" "00016453" "70" "2944" "0" "2947" "0" "c.2944_2947dup" "r.(?)" "p.(Arg983GlnfsTer38)" "" "0000568840" "00016453" "30" "2980" "-5" "2980" "-5" "c.2980-5C>T" "r.spl?" "p.?" "" "0000568841" "00016453" "30" "2981" "0" "2981" "0" "c.2981G>C" "r.(?)" "p.(Ser994Thr)" "" "0000568842" "00016453" "30" "3012" "0" "3012" "0" "c.3012C>T" "r.(?)" "p.(Asp1004=)" "" "0000568843" "00016453" "30" "3120" "0" "3120" "0" "c.3120C>T" "r.(?)" "p.(Asn1040=)" "" "0000568844" "00016453" "10" "3138" "0" "3138" "0" "c.3138C>T" "r.(?)" "p.(Thr1046=)" "" "0000568845" "00016453" "10" "3381" "0" "3381" "0" "c.3381C>T" "r.(?)" "p.(Ser1127=)" "" "0000568846" "00016453" "10" "3573" "0" "3573" "0" "c.3573C>T" "r.(?)" "p.(Phe1191=)" "" "0000568847" "00016453" "90" "3702" "1" "3702" "1" "c.3702+1G>A" "r.spl?" "p.?" "" "0000568848" "00016453" "30" "3800" "-8" "3800" "-8" "c.3800-8G>A" "r.(=)" "p.(=)" "" "0000568849" "00016453" "30" "3837" "0" "3837" "0" "c.3837C>T" "r.(?)" "p.(Asp1279=)" "" "0000568850" "00016453" "10" "3964" "0" "3964" "0" "c.3964G>A" "r.(?)" "p.(Gly1322Ser)" "" "0000617941" "00016453" "30" "-196" "210" "-196" "210" "c.-196+210A>C" "r.(=)" "p.(=)" "" "0000617942" "00016453" "50" "28" "-14" "28" "-14" "c.28-14C>T" "r.(=)" "p.(=)" "" "0000617943" "00016453" "30" "1086" "0" "1086" "0" "c.1086C>A" "r.(?)" "p.(Pro362=)" "" "0000617944" "00016453" "10" "1368" "0" "1368" "0" "c.1368C>T" "r.(?)" "p.(Ile456=)" "" "0000617945" "00016453" "30" "3228" "0" "3228" "0" "c.3228C>T" "r.(?)" "p.(Cys1076=)" "" "0000617946" "00016453" "30" "3261" "0" "3261" "0" "c.3261C>T" "r.(?)" "p.(Gly1087=)" "" "0000617947" "00016453" "30" "3330" "0" "3330" "0" "c.3330C>T" "r.(?)" "p.(Asp1110=)" "" "0000624104" "00016453" "30" "678" "3" "678" "3" "c.678+3G>A" "r.spl?" "p.?" "" "0000624105" "00016453" "30" "807" "10" "807" "10" "c.807+10C>A" "r.(=)" "p.(=)" "" "0000624106" "00016453" "90" "889" "-2" "889" "-2" "c.889-2dup" "r.spl?" "p.?" "" "0000650065" "00016453" "50" "3489" "0" "3489" "0" "c.3489G>A" "r.(=)" "p.(=)" "" "0000658694" "00016453" "30" "-43" "3" "-43" "3" "c.-43+3G>A" "r.spl?" "p.?" "" "0000681542" "00016453" "30" "-43" "220" "-43" "220" "c.-43+220T>C" "r.(=)" "p.(=)" "" "0000681543" "00016453" "30" "28" "-126" "28" "-126" "c.28-126G>A" "r.(=)" "p.(=)" "" "0000681544" "00016453" "30" "28" "-95" "28" "-95" "c.28-95T>C" "r.(=)" "p.(=)" "" "0000681545" "00016453" "30" "2271" "0" "2271" "0" "c.2271C>T" "r.(?)" "p.(His757=)" "" "0000692914" "00016453" "50" "1154" "0" "1154" "0" "c.1154G>A" "r.(?)" "p.(Arg385His)" "" "0000692915" "00016453" "50" "1948" "0" "1948" "0" "c.1948G>A" "r.(?)" "p.(Gly650Ser)" "" "0000692916" "00016453" "30" "2245" "0" "2245" "0" "c.2245G>A" "r.(?)" "p.(Val749Met)" "" "0000692917" "00016453" "50" "2649" "0" "2649" "0" "c.2649C>A" "r.(?)" "p.(His883Gln)" "" "0000710264" "00016453" "90" "3530" "0" "3530" "0" "c.3530G>A" "r.(?)" "p.(Arg1177His)" "" "0000727578" "00016453" "50" "605" "0" "605" "0" "c.605A>G" "r.(?)" "p.(Lys202Arg)" "" "0000733190" "00016453" "70" "3190" "0" "3190" "0" "c.3190G>A" "r.(?)" "p.(Ala1064Thr)" "" "0000733624" "00016453" "70" "3403" "0" "3403" "0" "c.3403C>T" "r.(?)" "p.(Arg1135Trp)" "" "0000787356" "00016453" "50" "1472" "0" "1472" "0" "c.1472T>C" "r.(?)" "p.(Ile491Thr)" "16" "0000809112" "00016453" "30" "177" "0" "177" "0" "c.177T>C" "r.(?)" "p.(Tyr59=)" "" "0000809113" "00016453" "30" "2940" "0" "2940" "0" "c.2940C>T" "r.(?)" "p.(Ser980=)" "" "0000809114" "00016453" "50" "3314" "0" "3314" "0" "c.3314C>T" "r.(?)" "p.(Thr1105Met)" "" "0000809115" "00016453" "30" "3435" "0" "3435" "0" "c.3435T>C" "r.(?)" "p.(Val1145=)" "" "0000809116" "00016453" "30" "3435" "0" "3435" "0" "c.3435T>C" "r.(?)" "p.(Val1145=)" "" "0000855735" "00016453" "30" "453" "0" "453" "0" "c.453C>T" "r.(?)" "p.(Phe151=)" "" "0000855736" "00016453" "10" "1090" "0" "1090" "0" "c.1090G>C" "r.(?)" "p.(Ala364Pro)" "" "0000855737" "00016453" "50" "3598" "0" "3598" "0" "c.3598C>G" "r.(?)" "p.(Gln1200Glu)" "" "0000866357" "00016453" "30" "198" "13" "198" "13" "c.198+13C>T" "r.(=)" "p.(=)" "" "0000866358" "00016453" "30" "1164" "0" "1164" "0" "c.1164C>T" "r.(?)" "p.(Phe388=)" "" "0000866359" "00016453" "50" "3040" "0" "3040" "0" "c.3040A>G" "r.(?)" "p.(Thr1014Ala)" "" "0000895190" "00016453" "30" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Ile15=)" "" "0000895191" "00016453" "30" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Leu287=)" "" "0000895192" "00016453" "30" "1035" "0" "1035" "0" "c.1035G>A" "r.(?)" "p.(Pro345=)" "" "0000895193" "00016453" "30" "2814" "0" "2814" "0" "c.2814C>T" "r.(?)" "p.(Gly938=)" "" "0000895194" "00016453" "30" "2822" "17" "2822" "17" "c.2822+17C>T" "r.(=)" "p.(=)" "" "0000895195" "00016453" "30" "3840" "0" "3840" "0" "c.3840C>T" "r.(?)" "p.(Ala1280=)" "" "0000905902" "00016453" "50" "297" "-4" "297" "-2" "c.297-4_297-2del" "r.spl" "p.?" "" "0000915327" "00016453" "30" "2016" "0" "2016" "0" "c.2016G>A" "r.(?)" "p.(Leu672=)" "" "0000915328" "00016453" "30" "2592" "0" "2592" "0" "c.2592C>T" "r.(?)" "p.(Gly864=)" "" "0000931131" "00016453" "30" "3585" "17" "3585" "17" "c.3585+17G>A" "r.(=)" "p.(=)" "" "0000951380" "00016453" "50" "28" "-93" "28" "-93" "c.28-93del" "r.(=)" "p.(=)" "" "0000951381" "00016453" "30" "1340" "0" "1340" "0" "c.1340C>T" "r.(?)" "p.(Pro447Leu)" "" "0000951382" "00016453" "30" "3964" "0" "3964" "0" "c.3964G>A" "r.(?)" "p.(Gly1322Ser)" "" "0000970044" "00016453" "30" "3381" "0" "3381" "0" "c.3381C>T" "r.(?)" "p.(Ser1127=)" "" "0000983698" "00016453" "30" "28" "-51" "28" "-51" "c.28-51G>A" "r.(=)" "p.(=)" "" "0000983699" "00016453" "90" "1489" "0" "1489" "0" "c.1489C>T" "r.(?)" "p.(Gln497*)" "" "0000983700" "00016453" "30" "1953" "6" "1953" "6" "c.1953+6C>G" "r.(=)" "p.(=)" "" "0000983701" "00016453" "50" "2065" "0" "2065" "0" "c.2065C>A" "r.(?)" "p.(Gln689Lys)" "" "0000983702" "00016453" "50" "2649" "0" "2649" "0" "c.2649C>A" "r.(?)" "p.(His883Gln)" "" "0000983703" "00016453" "30" "2823" "-15" "2823" "-15" "c.2823-15C>A" "r.(=)" "p.(=)" "" "0000983704" "00016453" "30" "3283" "6" "3283" "6" "c.3283+6T>C" "r.(=)" "p.(=)" "" "0000983705" "00016453" "70" "3372" "0" "3372" "0" "c.3372C>A" "r.(?)" "p.(Asp1124Glu)" "" "0001022088" "00016453" "70" "1491" "10" "1491" "18" "c.1491+10_1491+18delinsGT" "r.[1558_1635del,=]" "p.[Pro473_Asp498del,=]" "13i" "0001043230" "00016453" "70" "28" "-90" "28" "-90" "c.28-90G>T" "r.(=)" "p.(=)" "" "0001043231" "00016453" "50" "1492" "-3" "1492" "-3" "c.1492-3C>T" "r.spl?" "p.?" "" "0001043232" "00016453" "50" "2412" "0" "2412" "0" "c.2412A>T" "r.(?)" "p.(=)" "" "0001043233" "00016453" "50" "3359" "0" "3359" "0" "c.3359G>A" "r.(?)" "p.(Ser1120Asn)" "" "0001056452" "00016453" "50" "716" "0" "716" "0" "c.716C>G" "r.(?)" "p.(Ala239Gly)" "" "0001056453" "00016453" "50" "861" "0" "861" "0" "c.861G>A" "r.(?)" "p.(=)" "" "0001056454" "00016453" "50" "2818" "0" "2818" "0" "c.2818G>A" "r.(?)" "p.(Ala940Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000029731" "0000053137" "0000029731" "0000053138" "0000029734" "0000053139" "0000029734" "0000053140" "0000029735" "0000053141" "0000029735" "0000053142" "0000029736" "0000053143" "0000029736" "0000053144" "0000029737" "0000053145" "0000029737" "0000053146" "0000029738" "0000053147" "0000029738" "0000053148" "0000165298" "0000368957" "0000293376" "0000650065" "0000326672" "0000710264" "0000335181" "0000733190" "0000335181" "0000733624" "0000376005" "0000787356" "0000428238" "0000905902" "0000462561" "0001022088"