### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SREBF1) # 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}}" "SREBF1" "sterol regulatory element binding transcription factor 1" "17" "p11.2" "unknown" "NG_029029.1" "UD_132118134137" "" "https://www.LOVD.nl/SREBF1" "" "1" "11289" "6720" "184756" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SREBF1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-08 19:17:01" "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}}" "00020279" "SREBF1" "transcript variant 2" "001" "NM_004176.4" "" "NP_004167.3" "" "" "" "-194" "4717" "3444" "17740325" "17714663" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "05764" "IFAP" "ichthyosis, follicular, with atrichia and photophobia syndrome" "" "" "" "" "" "00006" "2020-06-08 19:40:11" "00006" "2025-09-22 12:54:03" "07180" "IFAP2" "ichthyosis, follicular, with atrichia and photophobia syndrome, type 2" "AD" "619016" "" "" "" "00006" "2025-09-22 12:51:00" "" "" "07181" "HMD" "ddysplasia, mucoepithelial, hereditary" "AD" "158310" "" "" "" "00006" "2025-09-22 12:52:10" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SREBF1" "05764" "SREBF1" "07180" "SREBF1" "07181" ## 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}}" "00303244" "" "" "" "4" "" "00006" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "3-generation family, 4 affected (3F, M), unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Fam1PatIII-3" "00303245" "" "" "00303244" "1" "" "00006" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "daughter" "F" "" "China" "" "0" "" "" "" "Fam1PatIV-1" "00303246" "" "" "" "2" "" "00006" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "2-generation family, 2 affected (2F), unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Fam2PatII-7" "00303247" "" "" "00303246" "1" "" "00006" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "daughter" "F" "" "China" "" "0" "" "" "" "Fam2PatIII-2" "00303248" "" "" "" "1" "" "00006" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "" "Individual 3" "00303249" "" "" "" "1" "" "00006" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "" "Individual 4" "00303250" "" "" "" "1" "" "00006" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "" "Individual 5" "00303251" "" "" "" "1" "" "00006" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "2-generation family, 1 affected, unaffected parents" "M" "" "Germany" "" "0" "" "" "" "Individual 6" "00303252" "" "" "" "1" "" "00006" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "2-generation family, 1 affected, unaffected parents" "M" "" "Congo" "" "0" "" "" "" "Individual 7" "00303253" "" "" "" "1" "" "00006" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "2-generation family, 1 affected, unaffected parents" "M" "" "Italy" "" "0" "" "" "" "Individual 8" "00303254" "" "" "" "1" "" "00006" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "2-generation family, 1 affected, unaffected parents" "M" "" "United States" "" "0" "" "" "African American" "Individual 9" "00303255" "" "" "" "1" "" "00006" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Austria" "" "0" "" "" "" "Individual 10" "00303256" "" "" "" "1" "" "00006" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "India" "" "0" "" "" "" "Individual 11" "00466711" "" "" "" "1" "" "00006" "{PMID:Irurzun 2021:33742461}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Argentina" "" "0" "" "" "" "Fam2Pat" "00468515" "" "" "" "1" "" "00006" "{PMID:Wang 2024:38184101}" "patient, no family history" "F" "" "China" "" "0" "" "" "" "Pat74" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00303244" "05764" "00303245" "05764" "00303246" "05764" "00303247" "05764" "00303248" "05764" "00303249" "05764" "00303250" "05764" "00303251" "05764" "00303252" "05764" "00303253" "05764" "00303254" "05764" "00303255" "05764" "00303256" "05764" "00466711" "00198" "00468515" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 05764, 07180, 07181 ## Count = 15 "{{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}}" "0000230328" "05764" "00303244" "00006" "Familial, autosomal dominant" "48y" "severe hypotrichosis; ichthyosis follicularis; photophobia, Meibomian gland dysfunction, keratitis, nystagmus, cataract, strabismus" "" "" "" "" "" "" "" "" "" "IFAP syndrome" "" "0000230329" "05764" "00303245" "00006" "Familial, autosomal dominant" "16y" "moderate hypotrichosis; ichthyosis follicularis; photophobia, Meibomian gland dysfunction, keratitis, nystagmus, cataract, strabismus" "" "" "" "" "" "" "" "" "" "IFAP syndrome" "" "0000230330" "05764" "00303246" "00006" "Familial, autosomal dominant" "47y" "atrichia; ichthyosis follicularis, mild periorificial erythema; photophobia, Meibomian gland dysfunction, keratitis, cataract, strabismus" "" "" "" "" "" "" "" "" "" "IFAP syndrome" "" "0000230331" "05764" "00303247" "00006" "Familial, autosomal dominant" "9y" "severe hypotrichosis; ichthyosis follicularis, mild periorificial erythema; photophobia, Meibomian gland dysfunction, keratitis, cataract, strabismus" "" "" "" "" "" "" "" "" "" "IFAP syndrome" "" "0000230332" "05764" "00303248" "00006" "Isolated (sporadic)" "15y" "atrichia; ichthyosis follicularis, nail dystrophy, periorificial hyperkeratosis, hyperkeratotic plaques on Achilles tendon, knee and dorsal hands; photophobia, Meibomian gland dysfunction, cataract" "" "" "" "" "" "" "" "" "" "IFAP syndrome" "" "0000230333" "05764" "00303249" "00006" "Isolated (sporadic)" "5y" "severe hypotrichosis; mild ichthyosis follicularis, angular cheilitis; photophobia, Meibomian gland dysfunction, cataract, xerophthalmia" "" "" "" "" "" "" "" "" "" "IFAP syndrome" "" "0000230334" "05764" "00303250" "00006" "Isolated (sporadic)" "8y" "atrichia; ichthyosis follicularis; photophobia" "" "" "" "" "" "" "" "" "" "IFAP syndrome" "" "0000230335" "05764" "00303251" "00006" "Isolated (sporadic)" "20y" "severe hypotrichosis, depigmented scalp hair variation in hair caliber; generalized ichthyosis follicularis; photophobia, recurrent conjunctivides, corneal keratosis and hypervascularisation" "" "" "" "" "" "" "" "" "" "IFAP syndrome" "" "0000230336" "05764" "00303252" "00006" "Isolated (sporadic)" "3y" "atrichia; ichthyosis follicularis mainly on the trunk; Meibomian gland dysfunction, recurrent keratoconjuncitivits, progressive corneal opacification and neovessels, vision loss" "" "" "" "" "" "" "" "" "" "IFAP syndrome" "" "0000230337" "05764" "00303253" "00006" "Isolated (sporadic)" "7y" "see paper; ..." "" "" "" "" "" "" "" "" "" "IFAP syndrome" "" "0000230338" "05764" "00303254" "00006" "Isolated (sporadic)" "14y" "extensive non-scarring atrichia of the temporal and parietal scalp; sparse short (<2 cm), black hairs preserved over the vertex and occiput; diffuse hypotrichosis of eyebrows and eyelids; ichthyosis follicularis with psoriaform plaques involving upper and lower extremities and scalp; widespread thorn-like punctate follicular projections; angular chelitis; photophobia, severe Meibomian gland dysfunction, corneal pannus, amblyopia" "" "" "" "" "" "" "" "" "" "IFAP syndrome" "" "0000230339" "05764" "00303255" "00006" "Isolated (sporadic)" "7y" "moderate hypotrichosis; no ichthyosis follicularis; photophobia, Meibomian gland dysfunction, keratitis, congenital cataract" "" "" "" "" "" "" "" "" "" "IFAP syndrome" "" "0000230340" "05764" "00303256" "00006" "Isolated (sporadic)" "5y" "atrichia, mild facial hypertrichosis; recurrent oral and genital ulcers, gingival erosions; bilateral corneal ulcers and blue dot cataract in the right eye" "" "" "" "" "" "" "" "" "" "IFAP syndrome" "" "0000352074" "00198" "00466711" "00006" "Isolated (sporadic)" "01y10m" "see paper; ..., keratoconjunctivitis, 15d-bilateral ocular discharge, conjunctivitis, lacrimal duct obstruction; 3m-bilateral corneal ulcers, photophobia, conjunctival injection, non-scarring diffuse scalp alopecia" "" "" "" "" "" "" "" "" "IFAP2" "keratoconjunctivitis" "" "0000353667" "00296" "00468515" "00006" "Familial, autosomal dominant" "" "cortical cataract; no symmetrical opacities; recurrent corneal erosions, recurrent aphthous ulcer, glaucoma, sparse and brittle hair, ichthyosis," "3y" "" "" "" "" "" "" "" "IFAP2" "bilateral cataract" "" ## 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}}" "0000304369" "00303244" "1" "00006" "00006" "2020-06-08 19:48:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304370" "00303245" "1" "00006" "00006" "2020-06-08 19:48:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304371" "00303246" "1" "00006" "00006" "2020-06-08 19:48:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304372" "00303247" "1" "00006" "00006" "2020-06-08 19:48:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304373" "00303248" "1" "00006" "00006" "2020-06-08 19:48:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304374" "00303249" "1" "00006" "00006" "2020-06-08 19:48:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304375" "00303250" "1" "00006" "00006" "2020-06-08 19:48:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304376" "00303251" "1" "00006" "00006" "2020-06-08 19:48:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304377" "00303252" "1" "00006" "00006" "2020-06-08 19:48:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304378" "00303253" "1" "00006" "00006" "2020-06-08 19:48:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304379" "00303254" "1" "00006" "00006" "2020-06-08 19:48:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304380" "00303255" "1" "00006" "00006" "2020-06-08 19:48:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304381" "00303256" "1" "00006" "00006" "2020-06-08 19:48:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000468375" "00466711" "1" "00006" "00006" "2025-09-23 19:02:15" "" "" "SEQ-NG" "DNA" "" "WES" "0000470182" "00468515" "1" "00006" "00006" "2025-11-09 20:53:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000304369" "SREBF1" "0000304370" "SREBF1" "0000304371" "SREBF1" "0000304372" "SREBF1" "0000304373" "SREBF1" "0000304374" "SREBF1" "0000304375" "SREBF1" "0000304376" "SREBF1" "0000304377" "SREBF1" "0000304378" "SREBF1" "0000304379" "SREBF1" "0000304380" "SREBF1" "0000304381" "SREBF1" ## 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 = 254 "{{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}}" "0000249471" "0" "30" "17" "17697132" "17697134" "dup" "0" "02325" "RAI1_000084" "g.17697132_17697134dup" "" "" "" "RAI1(NM_030665.3):c.832_834dup (p.?), RAI1(NM_030665.3):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665.4):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793818_17793820dup" "" "likely benign" "" "0000254582" "0" "30" "17" "17699038" "17699038" "subst" "0" "01943" "RAI1_000055" "g.17699038A>G" "" "" "" "RAI1(NM_030665.3):c.2776A>G (p.I926V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17795724A>G" "" "likely benign" "" "0000297541" "0" "30" "17" "17698203" "17698203" "subst" "0.0002564" "02325" "RAI1_000050" "g.17698203C>T" "" "" "" "RAI1(NM_030665.3):c.1941C>T (p.S647=), RAI1(NM_030665.4):c.1941C>T (p.S647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794889C>T" "" "likely benign" "" "0000297542" "0" "10" "17" "17698254" "17698254" "subst" "0.502746" "02325" "RAI1_000009" "g.17698254G>A" "" "" "" "RAI1(NM_030665.4):c.1992G>A (p.P664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794940G>A" "" "benign" "" "0000297543" "0" "50" "17" "17698312" "17698312" "subst" "8.12295E-6" "02325" "RAI1_000051" "g.17698312C>T" "" "" "" "RAI1(NM_030665.4):c.2050C>T (p.P684S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794998C>T" "" "VUS" "" "0000297544" "0" "10" "17" "17696531" "17696531" "subst" "0.478532" "02325" "RAI1_000002" "g.17696531G>C" "" "" "" "RAI1(NM_030665.4):c.269G>C (p.G90A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793217G>C" "" "benign" "" "0000297545" "0" "50" "17" "17699170" "17699170" "subst" "4.08E-6" "02325" "RAI1_000057" "g.17699170G>A" "" "" "" "RAI1(NM_030665.4):c.2908G>A (p.A970T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17795856G>A" "" "VUS" "" "0000297547" "0" "30" "17" "17700043" "17700045" "del" "0" "02325" "RAI1_000065" "g.17700043_17700045del" "" "" "" "RAI1(NM_030665.3):c.3781_3783delGAG (p.(Glu1261del)), RAI1(NM_030665.3):c.3781_3783delGAG (p.E1261del), RAI1(NM_030665.4):c.3781_3783delGAG (p.E12...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17796729_17796731del" "" "likely benign" "" "0000297548" "0" "10" "17" "17700774" "17700774" "subst" "0.00576479" "02325" "RAI1_000067" "g.17700774G>T" "" "" "" "RAI1(NM_030665.3):c.4512G>T (p.L1504=), RAI1(NM_030665.4):c.4512G>T (p.L1504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17797460G>T" "" "benign" "" "0000297549" "0" "50" "17" "17700853" "17700853" "subst" "0" "02325" "RAI1_000068" "g.17700853T>C" "" "" "" "RAI1(NM_030665.4):c.4591T>C (p.Y1531H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17797539T>C" "" "VUS" "" "0000297550" "0" "10" "17" "17696755" "17696755" "subst" "0.441971" "02325" "RAI1_000001" "g.17696755C>A" "" "" "" "RAI1(NM_030665.4):c.493C>A (p.P165T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793441C>A" "" "benign" "" "0000297551" "0" "10" "17" "17707105" "17707105" "subst" "0.424956" "02325" "RAI1_000012" "g.17707105T>C" "" "" "" "RAI1(NM_030665.4):c.5601T>C (p.I1867=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17803791T>C" "" "benign" "" "0000297552" "0" "30" "17" "17696872" "17696872" "subst" "0.00270848" "02325" "RAI1_000014" "g.17696872C>T" "" "" "" "RAI1(NM_030665.3):c.610C>T (p.P204S, p.(Pro204Ser)), RAI1(NM_030665.4):c.610C>T (p.P204S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793558C>T" "" "likely benign" "" "0000297553" "0" "10" "17" "17697099" "17697100" "del" "0" "02325" "RAI1_000029" "g.17697099_17697100del" "" "" "" "RAI1(NM_030665.3):c.837_838delGC (p.(Gln280fs)), RAI1(NM_030665.4):c.837_838delGC (p.Q280Afs*108)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793785_17793786del" "" "benign" "" "0000297554" "0" "10" "17" "17697099" "17697099" "subst" "0" "02325" "RAI1_000007" "g.17697099G>A" "" "" "" "RAI1(NM_030665.4):c.837G>A (p.(Gln279=)), RAI1(NM_030665.4):c.837_838delGCinsAC (p.Q279_Q280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793785G>A" "" "benign" "" "0000297555" "0" "10" "17" "17697102" "17697102" "del" "0" "02325" "RAI1_000033" "g.17697102del" "" "" "" "RAI1(NM_030665.3):c.840del (p.(Gln280HisfsTer84)), RAI1(NM_030665.3):c.840delG (p.Q280Hfs*84), RAI1(NM_030665.4):c.840_843delGCAGinsCAG (p.Q280Hfs...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793788del" "" "benign" "" "0000297556" "0" "10" "17" "17697123" "17697134" "del" "0" "02325" "RAI1_000040" "g.17697123_17697134del" "" "" "" "RAI1(NM_030665.3):c.835_846del (p.(Gln283_Gln286del)), RAI1(NM_030665.3):c.861_872delGCAGCAGCAGCA (p.Q288_Q291del), RAI1(NM_030665.4):c.861_872delG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793809_17793820del" "" "benign" "" "0000297557" "0" "10" "17" "17697126" "17697134" "del" "0" "02325" "RAI1_000041" "g.17697126_17697134del" "" "" "" "RAI1(NM_030665.3):c.832_840del (p.(Gln281_Gln283del)), RAI1(NM_030665.3):c.864_872delGCAGCAGCA (p.Q289_Q291del), RAI1(NM_030665.4):c.864_872delGCAG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793812_17793820del" "" "benign" "" "0000297558" "0" "10" "17" "17697132" "17697134" "del" "0" "02325" "RAI1_000008" "g.17697132_17697134del" "" "" "" "RAI1(NM_030665.3):c.835_837del (p.(Gln281del)), RAI1(NM_030665.3):c.870_872delGCA (p.Q291del), RAI1(NM_030665.4):c.870_872delGCA (p.Q291del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793818_17793820del" "" "benign" "" "0000299243" "0" "50" "17" "17698072" "17698072" "subst" "0" "02329" "RAI1_000049" "g.17698072C>T" "" "" "" "RAI1(NM_030665.4):c.1810C>T (p.Q604*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794758C>T" "" "VUS" "" "0000299244" "0" "90" "17" "17698723" "17698723" "del" "0" "02329" "RAI1_000054" "g.17698723del" "" "" "" "RAI1(NM_030665.4):c.2461delG (p.E821Rfs*129)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17795409del" "" "pathogenic" "" "0000301350" "0" "90" "17" "17697685" "17697685" "subst" "0" "02326" "RAI1_000047" "g.17697685C>T" "" "" "" "RAI1(NM_030665.4):c.1423C>T (p.Q475*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794371C>T" "" "pathogenic" "" "0000301351" "0" "30" "17" "17699912" "17699912" "subst" "0.000610136" "02326" "RAI1_000063" "g.17699912G>A" "" "" "" "RAI1(NM_030665.3):c.3650G>A (p.R1217Q, p.(Arg1217Gln)), RAI1(NM_030665.4):c.3650G>A (p.R1217Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17796598G>A" "" "likely benign" "" "0000301352" "0" "30" "17" "17697123" "17697134" "del" "0" "02326" "RAI1_000023" "g.17697123_17697134del" "" "" "" "RAI1(NM_030665.3):c.835_846del (p.(Gln283_Gln286del)), RAI1(NM_030665.3):c.861_872delGCAGCAGCAGCA (p.Q288_Q291del), RAI1(NM_030665.4):c.861_872delG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793809_17793820del" "" "likely benign" "" "0000301353" "0" "30" "17" "17697132" "17697134" "del" "0" "02326" "RAI1_000019" "g.17697132_17697134del" "" "" "" "RAI1(NM_030665.3):c.835_837del (p.(Gln281del)), RAI1(NM_030665.3):c.870_872delGCA (p.Q291del), RAI1(NM_030665.4):c.870_872delGCA (p.Q291del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793818_17793820del" "" "likely benign" "" "0000306736" "0" "30" "17" "17696363" "17696363" "subst" "7.3144E-5" "01943" "RAI1_000013" "g.17696363G>A" "" "" "" "RAI1(NM_030665.3):c.101G>A (p.S34N), RAI1(NM_030665.4):c.101G>A (p.S34N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793049G>A" "" "likely benign" "" "0000306737" "0" "30" "17" "17697412" "17697412" "subst" "2.84507E-5" "01943" "RAI1_000044" "g.17697412G>A" "" "" "" "RAI1(NM_030665.3):c.1150G>A (p.A384T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794098G>A" "" "likely benign" "" "0000306738" "0" "30" "17" "17697541" "17697541" "subst" "0.000974563" "01943" "RAI1_000045" "g.17697541C>T" "" "" "" "RAI1(NM_030665.3):c.1279C>T (p.L427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794227C>T" "" "likely benign" "" "0000306739" "0" "10" "17" "17697588" "17697588" "subst" "0.00105626" "01943" "RAI1_000046" "g.17697588G>A" "" "" "" "RAI1(NM_030665.3):c.1326G>A (p.V442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794274G>A" "" "benign" "" "0000306740" "0" "10" "17" "17697762" "17697762" "subst" "0.00141224" "01943" "RAI1_000048" "g.17697762G>A" "" "" "" "RAI1(NM_030665.3):c.1500G>A (p.P500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794448G>A" "" "benign" "" "0000306741" "0" "10" "17" "17699169" "17699169" "subst" "0.00164747" "01943" "RAI1_000056" "g.17699169C>T" "" "" "" "RAI1(NM_030665.3):c.2907C>T (p.D969=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17795855C>T" "" "benign" "" "0000306742" "0" "30" "17" "17699619" "17699619" "subst" "0.000725133" "01943" "RAI1_000061" "g.17699619C>T" "" "" "" "RAI1(NM_030665.3):c.3357C>T (p.S1119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17796305C>T" "" "likely benign" "" "0000306743" "0" "50" "17" "17700313" "17700313" "subst" "2.03201E-5" "01943" "RAI1_000066" "g.17700313G>T" "" "" "" "RAI1(NM_030665.3):c.4051G>T (p.A1351S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17796999G>T" "" "VUS" "" "0000306744" "0" "10" "17" "17700774" "17700774" "subst" "0.00576479" "01943" "RAI1_000067" "g.17700774G>T" "" "" "" "RAI1(NM_030665.3):c.4512G>T (p.L1504=), RAI1(NM_030665.4):c.4512G>T (p.L1504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17797460G>T" "" "benign" "" "0000306745" "0" "50" "17" "17701117" "17701117" "subst" "4.06408E-6" "01943" "RAI1_000070" "g.17701117G>T" "" "" "" "RAI1(NM_030665.3):c.4855G>T (p.D1619Y, p.(Asp1619Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17797803G>T" "" "VUS" "" "0000306746" "0" "30" "17" "17701298" "17701298" "subst" "0.000580805" "01943" "RAI1_000071" "g.17701298C>T" "" "" "" "RAI1(NM_030665.3):c.5036C>T (p.A1679V), RAI1(NM_030665.4):c.5036C>T (p.A1679V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17797984C>T" "" "likely benign" "" "0000306747" "0" "30" "17" "17707106" "17707106" "subst" "0" "01943" "RAI1_000072" "g.17707106G>A" "" "" "" "RAI1(NM_030665.3):c.5602G>A (p.G1868R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17803792G>A" "" "likely benign" "" "0000306748" "0" "30" "17" "17696987" "17696987" "subst" "0.00298216" "01943" "RAI1_000015" "g.17696987C>T" "" "" "" "RAI1(NM_030665.3):c.725C>T (p.P242L, p.(Pro242Leu)), RAI1(NM_030665.4):c.725C>T (p.P242L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793673C>T" "" "likely benign" "" "0000306749" "0" "10" "17" "17697102" "17697111" "del" "0" "01943" "RAI1_000035" "g.17697102_17697111del" "" "" "" "RAI1(NM_030665.3):c.840_849delGCAGCAGCAG (p.Q280Hfs*81), RAI1(NM_030665.4):c.840_849delGCAGCAGCAG (p.Q280Hfs*81)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793788_17793797del" "" "benign" "" "0000306750" "0" "10" "17" "17697102" "17697102" "subst" "0" "01943" "RAI1_000034" "g.17697102G>A" "" "" "" "RAI1(NM_030665.3):c.840G>A (p.Q280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793788G>A" "" "benign" "" "0000306751" "0" "30" "17" "17697123" "17697134" "del" "0" "01943" "RAI1_000023" "g.17697123_17697134del" "" "" "" "RAI1(NM_030665.3):c.835_846del (p.(Gln283_Gln286del)), RAI1(NM_030665.3):c.861_872delGCAGCAGCAGCA (p.Q288_Q291del), RAI1(NM_030665.4):c.861_872delG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793809_17793820del" "" "likely benign" "" "0000306752" "0" "10" "17" "17697132" "17697134" "del" "0" "01943" "RAI1_000019" "g.17697132_17697134del" "" "" "" "RAI1(NM_030665.3):c.835_837del (p.(Gln281del)), RAI1(NM_030665.3):c.870_872delGCA (p.Q291del), RAI1(NM_030665.4):c.870_872delGCA (p.Q291del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793818_17793820del" "" "benign" "" "0000325234" "0" "30" "17" "17696872" "17696872" "subst" "0.00270848" "01804" "RAI1_000014" "g.17696872C>T" "" "" "" "RAI1(NM_030665.3):c.610C>T (p.P204S, p.(Pro204Ser)), RAI1(NM_030665.4):c.610C>T (p.P204S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793558C>T" "" "likely benign" "" "0000325235" "0" "50" "17" "17697129" "17697134" "dup" "0" "01804" "RAI1_000016" "g.17697129_17697134dup" "" "" "" "RAI1(NM_030665.3):c.831_832insCAGCAG (p.(Asp277_Gln278insGlnGln)), RAI1(NM_030665.4):c.867_872dupGCAGCA (p.Q290_Q291dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793815_17793820dup" "" "VUS" "" "0000325236" "0" "50" "17" "17697123" "17697134" "dup" "0" "01804" "RAI1_000017" "g.17697123_17697134dup" "" "" "" "RAI1(NM_030665.3):c.831_832insCAGCAGCAGCAG (p.(Asp277_Gln278insGlnGlnGlnGln)), RAI1(NM_030665.4):c.861_872dupGCAGCAGCAGCA (p.Q288_Q291dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793809_17793820dup" "" "VUS" "" "0000325239" "0" "50" "17" "17697132" "17697134" "dup" "0" "01804" "RAI1_000020" "g.17697132_17697134dup" "" "" "" "RAI1(NM_030665.3):c.832_834dup (p.?), RAI1(NM_030665.3):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665.4):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793818_17793820dup" "" "VUS" "" "0000325242" "0" "50" "17" "17697129" "17697134" "del" "0" "01804" "RAI1_000021" "g.17697129_17697134del" "" "" "" "RAI1(NM_030665.3):c.838_843del (p.(Gln282_Gln283del)), RAI1(NM_030665.3):c.867_872delGCAGCA (p.Q290_Q291del), RAI1(NM_030665.4):c.867_872delGCAGCA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793815_17793820del" "" "VUS" "" "0000325244" "0" "50" "17" "17697126" "17697134" "del" "0" "01804" "RAI1_000022" "g.17697126_17697134del" "" "" "" "RAI1(NM_030665.3):c.832_840del (p.(Gln281_Gln283del)), RAI1(NM_030665.3):c.864_872delGCAGCAGCA (p.Q289_Q291del), RAI1(NM_030665.4):c.864_872delGCAG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793812_17793820del" "" "VUS" "" "0000325245" "0" "50" "17" "17697114" "17697134" "del" "0" "01804" "RAI1_000024" "g.17697114_17697134del" "" "" "" "RAI1(NM_030665.3):c.832_852del (p.(Gln285_Gln291del)), RAI1(NM_030665.3):c.852_872delGCAGCAGCAGCAGCAGCAGCA (p.Q285_Q291del), RAI1(NM_030665.4):c.85..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793800_17793820del" "" "VUS" "" "0000325250" "0" "50" "17" "17697132" "17697134" "del" "0" "01804" "RAI1_000027" "g.17697132_17697134del" "" "" "" "RAI1(NM_030665.3):c.835_837del (p.(Gln281del)), RAI1(NM_030665.3):c.870_872delGCA (p.Q291del), RAI1(NM_030665.4):c.870_872delGCA (p.Q291del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793818_17793820del" "" "VUS" "" "0000325262" "0" "50" "17" "17698544" "17698544" "subst" "2.43744E-5" "01804" "RAI1_000053" "g.17698544A>C" "" "" "" "RAI1(NM_030665.3):c.2282A>C (p.(His761Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17795230A>C" "" "VUS" "" "0000325264" "0" "50" "17" "17699515" "17699515" "subst" "0" "01804" "RAI1_000060" "g.17699515G>C" "" "" "" "RAI1(NM_030665.3):c.3253G>C (p.(Gly1085Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17796201G>C" "" "VUS" "" "0000325265" "0" "50" "17" "17699771" "17699771" "subst" "1.22921E-5" "01804" "RAI1_000062" "g.17699771A>G" "" "" "" "RAI1(NM_030665.3):c.3509A>G (p.(Asn1170Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17796457A>G" "" "VUS" "" "0000325266" "0" "30" "17" "17700043" "17700045" "del" "0" "01804" "RAI1_000064" "g.17700043_17700045del" "" "" "" "RAI1(NM_030665.3):c.3781_3783delGAG (p.(Glu1261del)), RAI1(NM_030665.3):c.3781_3783delGAG (p.E1261del), RAI1(NM_030665.4):c.3781_3783delGAG (p.E12...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17796729_17796731del" "" "likely benign" "" "0000325268" "0" "50" "17" "17700914" "17700914" "subst" "0.000324955" "01804" "RAI1_000069" "g.17700914C>T" "" "" "" "RAI1(NM_030665.3):c.4652C>T (p.(Ser1551Leu)), RAI1(NM_030665.4):c.4652C>T (p.S1551L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17797600C>T" "" "VUS" "" "0000325269" "0" "50" "17" "17701117" "17701117" "subst" "4.06408E-6" "01804" "RAI1_000070" "g.17701117G>T" "" "" "" "RAI1(NM_030665.3):c.4855G>T (p.D1619Y, p.(Asp1619Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17797803G>T" "" "VUS" "" "0000325270" "0" "50" "17" "17707127" "17707127" "subst" "8.12876E-6" "01804" "RAI1_000073" "g.17707127C>T" "" "" "" "RAI1(NM_030665.3):c.5623C>T (p.(Leu1875Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17803813C>T" "" "VUS" "" "0000325271" "0" "50" "17" "17713293" "17713293" "subst" "0" "01804" "RAI1_000074" "g.17713293T>C" "" "" "" "RAI1(NM_030665.3):c.5719T>C (p.(Ter1907GlnextTer1)), RAI1(NM_030665.4):c.5719T>C (p.*1907Qext*1)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17809979T>C" "" "VUS" "" "0000325272" "0" "50" "17" "17718146" "17718146" "subst" "0.00921255" "01804" "SREBF1_000001" "g.17718146C>A" "" "" "" "SREBF1(NM_001005291.2):c.2692+3G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17814832C>A" "" "VUS" "" "0000337359" "0" "30" "17" "17585040" "17585040" "subst" "0" "02327" "RAI1_000075" "g.17585040A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17681726A>C" "" "likely benign" "" "0000339555" "0" "10" "17" "17697099" "17697099" "subst" "0" "02327" "RAI1_000007" "g.17697099G>A" "" "" "" "RAI1(NM_030665.4):c.837G>A (p.(Gln279=)), RAI1(NM_030665.4):c.837_838delGCinsAC (p.Q279_Q280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793785G>A" "" "benign" "" "0000339556" "0" "10" "17" "17698254" "17698254" "subst" "0.502746" "02327" "RAI1_000009" "g.17698254G>A" "" "" "" "RAI1(NM_030665.4):c.1992G>A (p.P664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794940G>A" "" "benign" "" "0000339557" "0" "10" "17" "17707105" "17707105" "subst" "0.424956" "02327" "RAI1_000012" "g.17707105T>C" "" "" "" "RAI1(NM_030665.4):c.5601T>C (p.I1867=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17803791T>C" "" "benign" "" "0000341117" "0" "50" "17" "17699603" "17699603" "subst" "0" "02327" "RAI1_000080" "g.17699603C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17796289C>T" "" "VUS" "" "0000341193" "0" "50" "17" "17700973" "17700973" "subst" "6.09796E-5" "02327" "RAI1_000081" "g.17700973G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17797659G>A" "" "VUS" "" "0000341416" "0" "10" "17" "17697404" "17697404" "subst" "0.00376291" "02327" "RAI1_000078" "g.17697404C>T" "" "" "" "RAI1(NM_030665.3):c.1142C>T (p.A381V, p.(Ala381Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794090C>T" "" "benign" "" "0000342012" "0" "70" "17" "17701072" "17701072" "subst" "0" "02327" "RAI1_000082" "g.17701072C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17797758C>T" "" "likely pathogenic" "" "0000346320" "0" "10" "17" "17696531" "17696531" "subst" "0.478532" "02327" "RAI1_000002" "g.17696531G>C" "" "" "" "RAI1(NM_030665.4):c.269G>C (p.G90A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793217G>C" "" "benign" "" "0000348231" "0" "10" "17" "17696755" "17696755" "subst" "0.441971" "02327" "RAI1_000001" "g.17696755C>A" "" "" "" "RAI1(NM_030665.4):c.493C>A (p.P165T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793441C>A" "" "benign" "" "0000349678" "0" "70" "17" "17696624" "17696624" "subst" "0" "02327" "RAI1_000077" "g.17696624G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793310G>A" "" "likely pathogenic" "" "0000560471" "0" "30" "17" "17696401" "17696401" "subst" "0.000541478" "01804" "RAI1_000087" "g.17696401G>A" "" "" "" "RAI1(NM_030665.3):c.139G>A (p.(Ala47Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793087G>A" "" "likely benign" "" "0000560473" "0" "50" "17" "17696546" "17696546" "subst" "0.000104809" "01943" "RAI1_000089" "g.17696546C>T" "" "" "" "RAI1(NM_030665.3):c.284C>T (p.P95L), RAI1(NM_030665.4):c.284C>T (p.P95L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793232C>T" "" "VUS" "" "0000560474" "0" "30" "17" "17696872" "17696872" "subst" "0.00270848" "01943" "RAI1_000014" "g.17696872C>T" "" "" "" "RAI1(NM_030665.3):c.610C>T (p.P204S, p.(Pro204Ser)), RAI1(NM_030665.4):c.610C>T (p.P204S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793558C>T" "" "likely benign" "" "0000560475" "0" "30" "17" "17696950" "17696950" "subst" "1.22818E-5" "01804" "RAI1_000090" "g.17696950G>A" "" "" "" "RAI1(NM_030665.3):c.688G>A (p.(Gly230Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793636G>A" "" "likely benign" "" "0000560476" "0" "30" "17" "17696987" "17696987" "subst" "0.00298216" "01804" "RAI1_000015" "g.17696987C>T" "" "" "" "RAI1(NM_030665.3):c.725C>T (p.P242L, p.(Pro242Leu)), RAI1(NM_030665.4):c.725C>T (p.P242L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793673C>T" "" "likely benign" "" "0000560477" "0" "30" "17" "17696987" "17696987" "subst" "0.00298216" "02325" "RAI1_000015" "g.17696987C>T" "" "" "" "RAI1(NM_030665.3):c.725C>T (p.P242L, p.(Pro242Leu)), RAI1(NM_030665.4):c.725C>T (p.P242L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793673C>T" "" "likely benign" "" "0000560483" "0" "30" "17" "17697099" "17697100" "del" "0" "01804" "RAI1_000029" "g.17697099_17697100del" "" "" "" "RAI1(NM_030665.3):c.837_838delGC (p.(Gln280fs)), RAI1(NM_030665.4):c.837_838delGC (p.Q280Afs*108)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793785_17793786del" "" "likely benign" "" "0000560484" "0" "30" "17" "17697102" "17697105" "del" "0" "01804" "RAI1_000096" "g.17697102_17697105del" "" "" "" "RAI1(NM_030665.3):c.840_843del (p.(Gln280HisfsTer83)), RAI1(NM_030665.4):c.840_843delGCAG (p.Q280Hfs*83)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793788_17793791del" "" "likely benign" "" "0000560486" "0" "10" "17" "17697102" "17697111" "del" "0" "02325" "RAI1_000035" "g.17697102_17697111del" "" "" "" "RAI1(NM_030665.3):c.840_849delGCAGCAGCAG (p.Q280Hfs*81), RAI1(NM_030665.4):c.840_849delGCAGCAGCAG (p.Q280Hfs*81)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793788_17793797del" "" "benign" "" "0000560487" "0" "10" "17" "17697102" "17697102" "del" "0" "02326" "RAI1_000033" "g.17697102del" "" "" "" "RAI1(NM_030665.3):c.840del (p.(Gln280HisfsTer84)), RAI1(NM_030665.3):c.840delG (p.Q280Hfs*84), RAI1(NM_030665.4):c.840_843delGCAGinsCAG (p.Q280Hfs...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793788del" "" "benign" "" "0000560489" "0" "10" "17" "17697102" "17697102" "del" "0" "01943" "RAI1_000033" "g.17697102del" "" "" "" "RAI1(NM_030665.3):c.840del (p.(Gln280HisfsTer84)), RAI1(NM_030665.3):c.840delG (p.Q280Hfs*84), RAI1(NM_030665.4):c.840_843delGCAGinsCAG (p.Q280Hfs...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793788del" "" "benign" "" "0000560490" "0" "30" "17" "17697102" "17697102" "del" "0" "01804" "RAI1_000033" "g.17697102del" "" "" "" "RAI1(NM_030665.3):c.840del (p.(Gln280HisfsTer84)), RAI1(NM_030665.3):c.840delG (p.Q280Hfs*84), RAI1(NM_030665.4):c.840_843delGCAGinsCAG (p.Q280Hfs...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793788del" "" "likely benign" "" "0000560491" "0" "30" "17" "17697114" "17697134" "del" "0" "01943" "RAI1_000024" "g.17697114_17697134del" "" "" "" "RAI1(NM_030665.3):c.832_852del (p.(Gln285_Gln291del)), RAI1(NM_030665.3):c.852_872delGCAGCAGCAGCAGCAGCAGCA (p.Q285_Q291del), RAI1(NM_030665.4):c.85..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793800_17793820del" "" "likely benign" "" "0000560492" "0" "30" "17" "17697120" "17697134" "del" "0" "01804" "RAI1_000097" "g.17697120_17697134del" "" "" "" "RAI1(NM_030665.3):c.832_846del (p.(Gln283_Gln287del)), RAI1(NM_030665.4):c.858_872delGCAGCAGCAGCAGCA (p.Q287_Q291del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793806_17793820del" "" "likely benign" "" "0000560493" "0" "30" "17" "17697123" "17697134" "del" "0" "01804" "RAI1_000023" "g.17697123_17697134del" "" "" "" "RAI1(NM_030665.3):c.835_846del (p.(Gln283_Gln286del)), RAI1(NM_030665.3):c.861_872delGCAGCAGCAGCA (p.Q288_Q291del), RAI1(NM_030665.4):c.861_872delG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793809_17793820del" "" "likely benign" "" "0000560495" "0" "10" "17" "17697126" "17697134" "del" "0" "01943" "RAI1_000041" "g.17697126_17697134del" "" "" "" "RAI1(NM_030665.3):c.832_840del (p.(Gln281_Gln283del)), RAI1(NM_030665.3):c.864_872delGCAGCAGCA (p.Q289_Q291del), RAI1(NM_030665.4):c.864_872delGCAG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793812_17793820del" "" "benign" "" "0000560496" "0" "10" "17" "17697129" "17697134" "del" "0" "01943" "RAI1_000021" "g.17697129_17697134del" "" "" "" "RAI1(NM_030665.3):c.838_843del (p.(Gln282_Gln283del)), RAI1(NM_030665.3):c.867_872delGCAGCA (p.Q290_Q291del), RAI1(NM_030665.4):c.867_872delGCAGCA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793815_17793820del" "" "benign" "" "0000560498" "0" "30" "17" "17697132" "17697134" "dup" "0" "02326" "RAI1_000084" "g.17697132_17697134dup" "" "" "" "RAI1(NM_030665.3):c.832_834dup (p.?), RAI1(NM_030665.3):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665.4):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793818_17793820dup" "" "likely benign" "" "0000560499" "0" "10" "17" "17697132" "17697134" "dup" "0" "01943" "RAI1_000084" "g.17697132_17697134dup" "" "" "" "RAI1(NM_030665.3):c.832_834dup (p.?), RAI1(NM_030665.3):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665.4):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793818_17793820dup" "" "benign" "" "0000560500" "0" "90" "17" "17697214" "17697229" "dup" "0" "02325" "RAI1_000098" "g.17697214_17697229dup" "" "" "" "RAI1(NM_030665.4):c.952_967dupGGCCAGGGCTACTGCC (p.Q323Rfs*71)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793900_17793915dup" "" "pathogenic" "" "0000560501" "0" "30" "17" "17697234" "17697234" "subst" "0.00023306" "01943" "RAI1_000099" "g.17697234G>A" "" "" "" "RAI1(NM_030665.3):c.972G>A (p.P324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793920G>A" "" "likely benign" "" "0000560502" "0" "30" "17" "17697344" "17697344" "subst" "1.6255E-5" "02325" "RAI1_000100" "g.17697344C>T" "" "" "" "RAI1(NM_030665.3):c.1082C>T (p.S361L), RAI1(NM_030665.4):c.1082C>T (p.S361L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794030C>T" "" "likely benign" "" "0000560503" "0" "10" "17" "17697404" "17697404" "subst" "0.00376291" "01943" "RAI1_000078" "g.17697404C>T" "" "" "" "RAI1(NM_030665.3):c.1142C>T (p.A381V, p.(Ala381Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794090C>T" "" "benign" "" "0000560504" "0" "50" "17" "17697464" "17697464" "subst" "2.03262E-5" "01943" "RAI1_000101" "g.17697464C>T" "" "" "" "RAI1(NM_030665.3):c.1202C>T (p.T401M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794150C>T" "" "VUS" "" "0000560505" "0" "30" "17" "17697800" "17697800" "subst" "0.000701868" "01804" "RAI1_000102" "g.17697800A>G" "" "" "" "RAI1(NM_030665.3):c.1538A>G (p.(Gln513Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794486A>G" "" "likely benign" "" "0000560506" "0" "50" "17" "17697850" "17697850" "subst" "1.63441E-5" "01943" "RAI1_000103" "g.17697850C>T" "" "" "" "RAI1(NM_030665.3):c.1588C>T (p.L530F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794536C>T" "" "VUS" "" "0000560508" "0" "30" "17" "17698006" "17698006" "subst" "4.90585E-5" "01804" "RAI1_000105" "g.17698006G>A" "" "" "" "RAI1(NM_030665.4):c.1744G>A (p.(Asp582Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794692G>A" "" "likely benign" "" "0000560509" "0" "30" "17" "17698188" "17698188" "subst" "4.4781E-5" "01943" "RAI1_000106" "g.17698188G>A" "" "" "" "RAI1(NM_030665.3):c.1926G>A (p.S642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794874G>A" "" "likely benign" "" "0000560510" "0" "30" "17" "17698203" "17698203" "subst" "0.0002564" "02326" "RAI1_000050" "g.17698203C>T" "" "" "" "RAI1(NM_030665.3):c.1941C>T (p.S647=), RAI1(NM_030665.4):c.1941C>T (p.S647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794889C>T" "" "likely benign" "" "0000560511" "0" "30" "17" "17698263" "17698263" "subst" "9.75808E-5" "02326" "RAI1_000107" "g.17698263G>A" "" "" "" "RAI1(NM_030665.4):c.2001G>A (p.L667=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794949G>A" "" "likely benign" "" "0000560512" "0" "90" "17" "17698800" "17698800" "del" "0" "01943" "RAI1_000108" "g.17698800del" "" "" "" "RAI1(NM_030665.3):c.2538delC (p.T847Pfs*103)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17795486del" "" "pathogenic" "" "0000560513" "0" "30" "17" "17698931" "17698931" "subst" "8.58615E-5" "01804" "RAI1_000109" "g.17698931C>T" "" "" "" "RAI1(NM_030665.3):c.2669C>T (p.(Pro890Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17795617C>T" "" "likely benign" "" "0000560514" "0" "30" "17" "17699065" "17699065" "subst" "2.44097E-5" "01943" "RAI1_000110" "g.17699065G>A" "" "" "" "RAI1(NM_030665.3):c.2803G>A (p.E935K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17795751G>A" "" "likely benign" "" "0000560517" "0" "30" "17" "17699359" "17699359" "subst" "7.07514E-5" "01943" "RAI1_000112" "g.17699359C>G" "" "" "" "RAI1(NM_030665.3):c.3097C>G (p.P1033A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796045C>G" "" "likely benign" "" "0000560518" "0" "90" "17" "17699365" "17699365" "dup" "0" "02325" "RAI1_000113" "g.17699365dup" "" "" "" "RAI1(NM_030665.4):c.3103dupC (p.Q1035Pfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796051dup" "" "pathogenic" "" "0000560519" "0" "30" "17" "17700013" "17700013" "subst" "3.66312E-5" "01943" "RAI1_000114" "g.17700013G>A" "" "" "" "RAI1(NM_030665.3):c.3751G>A (p.A1251T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796699G>A" "" "likely benign" "" "0000560520" "0" "30" "17" "17700043" "17700045" "del" "0" "01943" "RAI1_000065" "g.17700043_17700045del" "" "" "" "RAI1(NM_030665.3):c.3781_3783delGAG (p.(Glu1261del)), RAI1(NM_030665.3):c.3781_3783delGAG (p.E1261del), RAI1(NM_030665.4):c.3781_3783delGAG (p.E12...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796729_17796731del" "" "likely benign" "" "0000560521" "0" "10" "17" "17700053" "17700053" "subst" "0.00169531" "01943" "RAI1_000115" "g.17700053A>G" "" "" "" "RAI1(NM_030665.3):c.3791A>G (p.E1264G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796739A>G" "" "benign" "" "0000560522" "0" "70" "17" "17700099" "17700099" "del" "0" "01943" "RAI1_000116" "g.17700099del" "" "" "" "RAI1(NM_030665.3):c.3837delC (p.K1280Sfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796785del" "" "likely pathogenic" "" "0000560523" "0" "30" "17" "17700111" "17700111" "subst" "9.80192E-5" "02326" "RAI1_000117" "g.17700111G>A" "" "" "" "RAI1(NM_030665.4):c.3849G>A (p.K1283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796797G>A" "" "likely benign" "" "0000560524" "0" "30" "17" "17700147" "17700147" "subst" "0.000151295" "01943" "RAI1_000118" "g.17700147G>T" "" "" "" "RAI1(NM_030665.3):c.3885G>T (p.P1295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796833G>T" "" "likely benign" "" "0000560525" "0" "30" "17" "17700295" "17700295" "subst" "1.62516E-5" "01943" "RAI1_000119" "g.17700295G>T" "" "" "" "RAI1(NM_030665.3):c.4033G>T (p.A1345S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796981G>T" "" "likely benign" "" "0000560526" "0" "30" "17" "17700305" "17700305" "subst" "0.000195016" "01804" "RAI1_000120" "g.17700305C>T" "" "" "" "RAI1(NM_030665.3):c.4043C>T (p.A1348V, p.(Ala1348Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796991C>T" "" "likely benign" "" "0000560527" "0" "30" "17" "17700535" "17700535" "subst" "1.22061E-5" "01943" "RAI1_000121" "g.17700535A>G" "" "" "" "RAI1(NM_030665.3):c.4273A>G (p.K1425E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797221A>G" "" "likely benign" "" "0000560528" "0" "30" "17" "17700607" "17700607" "subst" "2.87753E-5" "01804" "RAI1_000122" "g.17700607C>T" "" "" "" "RAI1(NM_030665.3):c.4345C>T (p.(Arg1449Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797293C>T" "" "likely benign" "" "0000560529" "0" "30" "17" "17700628" "17700628" "subst" "0" "01943" "RAI1_000123" "g.17700628C>A" "" "" "" "RAI1(NM_030665.3):c.4366C>A (p.H1456N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797314C>A" "" "likely benign" "" "0000560531" "0" "50" "17" "17700700" "17700700" "subst" "0.000716696" "01943" "RAI1_000125" "g.17700700A>G" "" "" "" "RAI1(NM_030665.3):c.4438A>G (p.R1480G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797386A>G" "" "VUS" "" "0000560534" "0" "30" "17" "17700893" "17700893" "subst" "0" "01943" "RAI1_000126" "g.17700893G>A" "" "" "" "RAI1(NM_030665.3):c.4631G>A (p.R1544Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797579G>A" "" "likely benign" "" "0000560535" "0" "30" "17" "17700938" "17700938" "subst" "0.000515971" "02325" "RAI1_000127" "g.17700938G>A" "" "" "" "RAI1(NM_030665.4):c.4676G>A (p.R1559Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797624G>A" "" "likely benign" "" "0000560536" "0" "30" "17" "17700955" "17700955" "subst" "0.000219398" "01804" "RAI1_000128" "g.17700955G>A" "" "" "" "RAI1(NM_030665.3):c.4693G>A (p.(Val1565Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797641G>A" "" "likely benign" "" "0000560537" "0" "30" "17" "17701079" "17701079" "subst" "2.43756E-5" "01804" "RAI1_000129" "g.17701079C>T" "" "" "" "RAI1(NM_030665.3):c.4817C>T (p.(Ala1606Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797765C>T" "" "likely benign" "" "0000560539" "0" "30" "17" "17701285" "17701285" "subst" "0.000779778" "01943" "RAI1_000131" "g.17701285G>C" "" "" "" "RAI1(NM_030665.3):c.5023G>C (p.V1675L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797971G>C" "" "likely benign" "" "0000560540" "0" "30" "17" "17701466" "17701466" "subst" "4.08463E-5" "01943" "RAI1_000132" "g.17701466C>T" "" "" "" "RAI1(NM_030665.3):c.5204C>T (p.P1735L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17798152C>T" "" "likely benign" "" "0000560546" "0" "30" "17" "17719179" "17719179" "subst" "0.000110789" "01804" "RAI1_000138" "g.17719179T>C" "" "" "" "SREBF1(NM_001005291.2):c.2468A>G (p.(Asn823Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17815865T>C" "" "likely benign" "" "0000616371" "0" "30" "17" "17696981" "17696981" "subst" "2.47027E-5" "01943" "RAI1_000142" "g.17696981C>T" "" "" "" "RAI1(NM_030665.3):c.719C>T (p.T240I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793667C>T" "" "likely benign" "" "0000616372" "0" "30" "17" "17697117" "17697134" "del" "0" "02325" "RAI1_000143" "g.17697117_17697134del" "" "" "" "RAI1(NM_030665.4):c.855_872delGCAGCAGCAGCAGCAGCA (p.Q286_Q291del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793803_17793820del" "" "likely benign" "" "0000616373" "0" "30" "17" "17697912" "17697912" "subst" "3.66984E-5" "01943" "RAI1_000144" "g.17697912C>T" "" "" "" "RAI1(NM_030665.3):c.1650C>T (p.P550=), RAI1(NM_030665.4):c.1650C>T (p.P550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794598C>T" "" "likely benign" "" "0000616375" "0" "30" "17" "17699943" "17699943" "subst" "8.1704E-6" "01943" "RAI1_000148" "g.17699943C>G" "" "" "" "RAI1(NM_030665.3):c.3681C>G (p.A1227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796629C>G" "" "likely benign" "" "0000616376" "0" "50" "17" "17700557" "17700557" "subst" "0.000448226" "01943" "RAI1_000150" "g.17700557C>T" "" "" "" "RAI1(NM_030665.3):c.4295C>T (p.P1432L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797243C>T" "" "VUS" "" "0000616377" "0" "30" "17" "17701442" "17701442" "subst" "0" "01804" "RAI1_000151" "g.17701442G>A" "" "" "" "RAI1(NM_030665.3):c.5180G>A (p.(Gly1727Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17798128G>A" "" "likely benign" "" "0000616379" "0" "30" "17" "17707167" "17707167" "subst" "1.62843E-5" "01943" "RAI1_000152" "g.17707167C>T" "" "" "" "RAI1(NM_030665.3):c.5659+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17803853C>T" "" "likely benign" "" "0000616380" "0" "30" "17" "17723587" "17723587" "subst" "8.13233E-6" "01943" "RAI1_000153" "g.17723587G>A" "" "" "" "SREBF1(NM_001005291.2):c.430C>T (p.P144S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17820273G>A" "" "likely benign" "" "0000623630" "0" "30" "17" "17698709" "17698709" "subst" "7.54128E-5" "02326" "RAI1_000145" "g.17698709G>T" "" "" "" "RAI1(NM_030665.4):c.2447G>T (p.G816V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17795395G>T" "" "likely benign" "" "0000623631" "0" "30" "17" "17699166" "17699166" "subst" "4.89261E-5" "02326" "RAI1_000146" "g.17699166G>A" "" "" "" "RAI1(NM_030665.4):c.2904G>A (p.S968=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17795852G>A" "" "likely benign" "" "0000623632" "0" "30" "17" "17699669" "17699669" "subst" "3.25661E-5" "01943" "RAI1_000147" "g.17699669C>T" "" "" "" "RAI1(NM_030665.3):c.3407C>T (p.T1136M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796355C>T" "" "likely benign" "" "0000623633" "0" "30" "17" "17700381" "17700381" "subst" "0" "01943" "RAI1_000149" "g.17700381C>T" "" "" "" "RAI1(NM_030665.3):c.4119C>T (p.G1373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797067C>T" "" "likely benign" "" "0000658052" "0" "10" "17" "17697129" "17697134" "del" "0" "02326" "RAI1_000021" "g.17697129_17697134del" "" "" "" "RAI1(NM_030665.3):c.838_843del (p.(Gln282_Gln283del)), RAI1(NM_030665.3):c.867_872delGCAGCA (p.Q290_Q291del), RAI1(NM_030665.4):c.867_872delGCAGCA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793815_17793820del" "" "benign" "" "0000667806" "1" "90" "17" "17720593" "17720595" "del" "0" "00006" "SREBF1_000003" "g.17720593_17720595del" "" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17817279_17817281del" "" "pathogenic (dominant)" "" "0000667807" "21" "90" "17" "17720593" "17720595" "del" "0" "00006" "SREBF1_000003" "g.17720593_17720595del" "" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17817279_17817281del" "" "pathogenic (dominant)" "" "0000667808" "1" "90" "17" "17720597" "17720597" "subst" "0" "00006" "SREBF1_000004" "g.17720597G>A" "" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17817283G>A" "" "pathogenic (dominant)" "" "0000667809" "21" "90" "17" "17720597" "17720597" "subst" "0" "00006" "SREBF1_000004" "g.17720597G>A" "" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17817283G>A" "" "pathogenic (dominant)" "" "0000667810" "0" "90" "17" "17720597" "17720597" "subst" "0" "00006" "SREBF1_000004" "g.17720597G>A" "" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "" "" "" "De novo" "" "" "0" "" "" "g.17817283G>A" "" "pathogenic (dominant)" "" "0000667811" "0" "90" "17" "17720597" "17720597" "subst" "0" "00006" "SREBF1_000004" "g.17720597G>A" "" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "" "" "" "De novo" "" "" "0" "" "" "g.17817283G>A" "" "pathogenic (dominant)" "" "0000667812" "0" "90" "17" "17720597" "17720597" "subst" "0" "00006" "SREBF1_000004" "g.17720597G>A" "" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "" "" "" "De novo" "" "" "0" "" "" "g.17817283G>A" "" "pathogenic (dominant)" "" "0000667813" "0" "90" "17" "17720597" "17720597" "subst" "0" "00006" "SREBF1_000004" "g.17720597G>A" "" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.17817283G>A" "" "pathogenic (dominant)" "" "0000667814" "0" "90" "17" "17720597" "17720597" "subst" "0" "00006" "SREBF1_000004" "g.17720597G>A" "" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.17817283G>A" "" "pathogenic (dominant)" "" "0000667815" "0" "90" "17" "17720597" "17720597" "subst" "0" "00006" "SREBF1_000004" "g.17720597G>A" "" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.17817283G>A" "" "pathogenic (dominant)" "" "0000667816" "0" "90" "17" "17720597" "17720597" "subst" "0" "00006" "SREBF1_000004" "g.17720597G>A" "" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.17817283G>A" "" "pathogenic (dominant)" "" "0000667817" "0" "90" "17" "17720587" "17720587" "subst" "0" "00006" "SREBF1_000002" "g.17720587A>G" "" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "" "" "" "De novo" "" "" "0" "" "" "g.17817273A>G" "" "pathogenic (dominant)" "" "0000667818" "0" "90" "17" "17720597" "17720597" "subst" "0" "00006" "SREBF1_000004" "g.17720597G>A" "" "{PMID:Wang 2020:32497488}, {DOI:Wang 2020:10.1016/j.ajhg.2020.05.006}" "" "" "" "De novo" "" "" "0" "" "" "g.17817283G>A" "" "pathogenic (dominant)" "" "0000680796" "0" "30" "17" "17697396" "17697396" "subst" "6.90782E-5" "02326" "RAI1_000159" "g.17697396C>T" "" "" "" "RAI1(NM_030665.4):c.1134C>T (p.S378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680797" "0" "30" "17" "17697918" "17697918" "subst" "0.00150051" "01943" "RAI1_000160" "g.17697918C>T" "" "" "" "RAI1(NM_030665.3):c.1656C>T (p.S552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680798" "0" "90" "17" "17699964" "17699964" "del" "0" "02325" "RAI1_000161" "g.17699964del" "" "" "" "RAI1(NM_030665.4):c.3702delC (p.K1235Rfs*80)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680799" "0" "30" "17" "17700029" "17700029" "subst" "1.62702E-5" "01943" "RAI1_000162" "g.17700029G>T" "" "" "" "RAI1(NM_030665.3):c.3767G>T (p.G1256V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692273" "0" "30" "17" "17696593" "17696593" "subst" "4.19104E-6" "02327" "RAI1_000164" "g.17696593C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692274" "0" "10" "17" "17697129" "17697134" "del" "0" "02325" "RAI1_000021" "g.17697129_17697134del" "" "" "" "RAI1(NM_030665.3):c.838_843del (p.(Gln282_Gln283del)), RAI1(NM_030665.3):c.867_872delGCAGCA (p.Q290_Q291del), RAI1(NM_030665.4):c.867_872delGCAGCA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692275" "0" "50" "17" "17698711" "17698711" "subst" "0" "01943" "RAI1_000165" "g.17698711G>A" "" "" "" "RAI1(NM_030665.3):c.2449G>A (p.G817R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692276" "0" "30" "17" "17699912" "17699912" "subst" "0.000610136" "01943" "RAI1_000063" "g.17699912G>A" "" "" "" "RAI1(NM_030665.3):c.3650G>A (p.R1217Q, p.(Arg1217Gln)), RAI1(NM_030665.4):c.3650G>A (p.R1217Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726208" "0" "90" "17" "17696625" "17696625" "subst" "0" "02329" "RAI1_000141" "g.17696625G>A" "" "" "" "RAI1(NM_030665.4):c.363G>A (p.W121*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726209" "0" "10" "17" "17697102" "17697105" "del" "0" "02325" "RAI1_000096" "g.17697102_17697105del" "" "" "" "RAI1(NM_030665.3):c.840_843del (p.(Gln280HisfsTer83)), RAI1(NM_030665.4):c.840_843delGCAG (p.Q280Hfs*83)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000726210" "0" "30" "17" "17697344" "17697344" "subst" "1.6255E-5" "01943" "RAI1_000100" "g.17697344C>T" "" "" "" "RAI1(NM_030665.3):c.1082C>T (p.S361L), RAI1(NM_030665.4):c.1082C>T (p.S361L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726211" "0" "30" "17" "17697912" "17697912" "subst" "3.66984E-5" "02326" "RAI1_000144" "g.17697912C>T" "" "" "" "RAI1(NM_030665.3):c.1650C>T (p.P550=), RAI1(NM_030665.4):c.1650C>T (p.P550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726212" "0" "50" "17" "17697970" "17697970" "subst" "0" "02329" "RAI1_000104" "g.17697970G>C" "" "" "" "RAI1(NM_030665.4):c.1708G>C (p.D570H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726213" "0" "90" "17" "17698519" "17698519" "del" "0" "02329" "RAI1_000157" "g.17698519del" "" "" "" "RAI1(NM_030665.4):c.2257delG (p.D753Mfs*66)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726214" "0" "30" "17" "17700301" "17700301" "subst" "0.000487496" "01943" "RAI1_000167" "g.17700301A>G" "" "" "" "RAI1(NM_030665.3):c.4039A>G (p.K1347E), RAI1(NM_030665.4):c.4039A>G (p.K1347E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726215" "0" "30" "17" "17700301" "17700301" "subst" "0.000487496" "02325" "RAI1_000167" "g.17700301A>G" "" "" "" "RAI1(NM_030665.3):c.4039A>G (p.K1347E), RAI1(NM_030665.4):c.4039A>G (p.K1347E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726216" "0" "30" "17" "17700305" "17700305" "subst" "0.000195016" "01943" "RAI1_000120" "g.17700305C>T" "" "" "" "RAI1(NM_030665.3):c.4043C>T (p.A1348V, p.(Ala1348Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726217" "0" "30" "17" "17700788" "17700788" "subst" "0.00113801" "01943" "RAI1_000168" "g.17700788A>G" "" "" "" "RAI1(NM_030665.3):c.4526A>G (p.Q1509R), RAI1(NM_030665.4):c.4526A>G (p.(Gln1509Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726218" "0" "30" "17" "17701298" "17701298" "subst" "0.000580805" "02325" "RAI1_000071" "g.17701298C>T" "" "" "" "RAI1(NM_030665.3):c.5036C>T (p.A1679V), RAI1(NM_030665.4):c.5036C>T (p.A1679V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726219" "0" "30" "17" "17707156" "17707156" "subst" "0.000187117" "01943" "RAI1_000169" "g.17707156C>T" "" "" "" "RAI1(NM_030665.3):c.5652C>T (p.S1884=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807828" "0" "30" "17" "17697120" "17697134" "del" "0" "02325" "RAI1_000097" "g.17697120_17697134del" "" "" "" "RAI1(NM_030665.3):c.832_846del (p.(Gln283_Gln287del)), RAI1(NM_030665.4):c.858_872delGCAGCAGCAGCAGCA (p.Q287_Q291del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807829" "0" "30" "17" "17697129" "17697134" "dup" "0" "02325" "RAI1_000016" "g.17697129_17697134dup" "" "" "" "RAI1(NM_030665.3):c.831_832insCAGCAG (p.(Asp277_Gln278insGlnGln)), RAI1(NM_030665.4):c.867_872dupGCAGCA (p.Q290_Q291dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807830" "0" "30" "17" "17698203" "17698203" "subst" "0.0002564" "01943" "RAI1_000050" "g.17698203C>T" "" "" "" "RAI1(NM_030665.3):c.1941C>T (p.S647=), RAI1(NM_030665.4):c.1941C>T (p.S647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807831" "0" "30" "17" "17698569" "17698569" "subst" "2.03145E-5" "01943" "RAI1_000172" "g.17698569G>A" "" "" "" "RAI1(NM_030665.3):c.2307G>A (p.L769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807832" "0" "30" "17" "17699777" "17699777" "subst" "8.20964E-6" "01943" "RAI1_000173" "g.17699777G>A" "" "" "" "RAI1(NM_030665.3):c.3515G>A (p.R1172H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807833" "0" "50" "17" "17700005" "17700010" "del" "0" "01943" "RAI1_000174" "g.17700005_17700010del" "" "" "" "RAI1(NM_030665.3):c.3743_3748delGCAGCA (p.S1248_S1249del), RAI1(NM_030665.4):c.3743_3748del (p.(Ser1248_Ser1249del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807834" "0" "30" "17" "17700914" "17700914" "subst" "0.000324955" "02326" "RAI1_000069" "g.17700914C>T" "" "" "" "RAI1(NM_030665.3):c.4652C>T (p.(Ser1551Leu)), RAI1(NM_030665.4):c.4652C>T (p.S1551L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807835" "0" "90" "17" "17701078" "17701088" "del" "0" "02325" "RAI1_000175" "g.17701078_17701088del" "" "" "" "RAI1(NM_030665.4):c.4816_4826delGCGTTCACCAC (p.A1606Hfs*100)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807836" "0" "30" "17" "17701592" "17701592" "subst" "4.60507E-6" "01943" "RAI1_000133" "g.17701592C>A" "" "" "" "RAI1(NM_030665.3):c.5330C>A (p.S1777Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807837" "0" "30" "17" "17701670" "17701670" "subst" "7.03507E-5" "01943" "RAI1_000176" "g.17701670G>A" "" "" "" "RAI1(NM_030665.3):c.5408G>A (p.R1803H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865100" "0" "70" "17" "17697211" "17697211" "subst" "0" "02326" "RAI1_000178" "g.17697211C>T" "" "" "" "RAI1(NM_030665.4):c.949C>T (p.Q317*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865101" "0" "30" "17" "17698740" "17698740" "subst" "9.34894E-6" "01943" "RAI1_000180" "g.17698740G>A" "" "" "" "RAI1(NM_030665.3):c.2478G>A (p.L826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865102" "0" "50" "17" "17699380" "17699380" "subst" "0" "01943" "RAI1_000181" "g.17699380G>A" "" "" "" "RAI1(NM_030665.3):c.3118G>A (p.G1040R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865103" "0" "30" "17" "17699952" "17699952" "subst" "8.1714E-6" "01943" "RAI1_000182" "g.17699952G>A" "" "" "" "RAI1(NM_030665.3):c.3690G>A (p.A1230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865104" "0" "30" "17" "17701461" "17701461" "subst" "0.000538872" "01943" "RAI1_000183" "g.17701461G>A" "" "" "" "RAI1(NM_030665.3):c.5199G>A (p.S1733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893373" "0" "30" "17" "17696363" "17696363" "subst" "7.3144E-5" "02325" "RAI1_000013" "g.17696363G>A" "" "" "" "RAI1(NM_030665.3):c.101G>A (p.S34N), RAI1(NM_030665.4):c.101G>A (p.S34N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893374" "0" "30" "17" "17697123" "17697134" "dup" "0" "02325" "RAI1_000017" "g.17697123_17697134dup" "" "" "" "RAI1(NM_030665.3):c.831_832insCAGCAGCAGCAG (p.(Asp277_Gln278insGlnGlnGlnGln)), RAI1(NM_030665.4):c.861_872dupGCAGCAGCAGCA (p.Q288_Q291dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893375" "0" "50" "17" "17699012" "17699012" "subst" "1.22277E-5" "02325" "RAI1_000184" "g.17699012C>T" "" "" "" "RAI1(NM_030665.4):c.2750C>T (p.P917L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893376" "0" "50" "17" "17700814" "17700814" "subst" "8.14213E-6" "02325" "RAI1_000185" "g.17700814C>T" "" "" "" "RAI1(NM_030665.4):c.4552C>T (p.P1518S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893377" "0" "90" "17" "17700937" "17700937" "subst" "0" "02326" "RAI1_000186" "g.17700937C>T" "" "" "" "RAI1(NM_030665.4):c.4675C>T (p.R1559*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000893378" "0" "90" "17" "17701687" "17701687" "subst" "0" "02325" "RAI1_000187" "g.17701687A>T" "" "" "" "RAI1(NM_030665.4):c.5425A>T (p.K1809*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926403" "0" "50" "17" "17699242" "17699242" "subst" "0" "02325" "RAI1_000192" "g.17699242C>T" "" "" "" "RAI1(NM_030665.4):c.2980C>T (p.R994W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930702" "0" "50" "17" "17713293" "17713293" "subst" "0" "02325" "RAI1_000074" "g.17713293T>C" "" "" "" "RAI1(NM_030665.3):c.5719T>C (p.(Ter1907GlnextTer1)), RAI1(NM_030665.4):c.5719T>C (p.*1907Qext*1)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950806" "0" "70" "17" "17696749" "17696749" "subst" "0" "02329" "RAI1_000196" "g.17696749C>T" "" "" "" "RAI1(NM_030665.4):c.487C>T (p.Q163*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950807" "0" "50" "17" "17697098" "17697099" "ins" "0" "02325" "RAI1_000197" "g.17697098_17697099insACAGCAGCA" "" "" "" "RAI1(NM_030665.4):c.836_837insACAGCAGCA (p.Q289_Q291dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950808" "0" "50" "17" "17697389" "17697389" "subst" "1.21905E-5" "02325" "RAI1_000198" "g.17697389C>T" "" "" "" "RAI1(NM_030665.4):c.1127C>T (p.P376L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950809" "0" "50" "17" "17700278" "17700278" "subst" "0" "02329" "RAI1_000199" "g.17700278C>G" "" "" "" "RAI1(NM_030665.4):c.4016C>G (p.P1339R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968710" "0" "30" "17" "17697126" "17697134" "del" "0" "02326" "RAI1_000022" "g.17697126_17697134del" "" "" "" "RAI1(NM_030665.3):c.832_840del (p.(Gln281_Gln283del)), RAI1(NM_030665.3):c.864_872delGCAGCAGCA (p.Q289_Q291del), RAI1(NM_030665.4):c.864_872delGCAG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982344" "0" "50" "17" "17697667" "17697667" "subst" "0" "01804" "RAI1_000201" "g.17697667G>C" "" "" "" "RAI1(NM_030665.4):c.1405G>C (p.(Val469Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982345" "0" "30" "17" "17699912" "17699912" "subst" "0.000610136" "01804" "RAI1_000063" "g.17699912G>A" "" "" "" "RAI1(NM_030665.3):c.3650G>A (p.R1217Q, p.(Arg1217Gln)), RAI1(NM_030665.4):c.3650G>A (p.R1217Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982346" "0" "50" "17" "17700089" "17700089" "subst" "0" "02325" "RAI1_000202" "g.17700089C>T" "" "" "" "RAI1(NM_030665.4):c.3827C>T (p.P1276L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982347" "0" "70" "17" "17700199" "17700199" "del" "0" "01804" "RAI1_000203" "g.17700199del" "" "" "" "RAI1(NM_030665.3):c.3937delG (p.(Ala1313fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000982348" "0" "30" "17" "17700944" "17700944" "subst" "1.21887E-5" "01804" "RAI1_000204" "g.17700944G>A" "" "" "" "RAI1(NM_030665.4):c.4682G>A (p.(Arg1561Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002983" "0" "30" "17" "17696485" "17696485" "subst" "0.00119557" "01804" "RAI1_000205" "g.17696485G>T" "" "" "" "RAI1(NM_030665.3):c.223G>T (p.(Ala75Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002984" "0" "30" "17" "17696566" "17696566" "subst" "2.10745E-5" "01804" "RAI1_000206" "g.17696566G>A" "" "" "" "RAI1(NM_030665.3):c.304G>A (p.(Val102Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002985" "0" "30" "17" "17696977" "17696977" "subst" "0" "01804" "RAI1_000208" "g.17696977T>A" "" "" "" "RAI1(NM_030665.3):c.715T>A (p.(Cys239Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002986" "0" "30" "17" "17696992" "17696992" "subst" "0" "01804" "RAI1_000209" "g.17696992G>A" "" "" "" "RAI1(NM_030665.3):c.730G>A (p.(Ala244Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002987" "0" "30" "17" "17697023" "17697023" "subst" "0" "01804" "RAI1_000210" "g.17697023G>T" "" "" "" "RAI1(NM_030665.3):c.761G>T (p.(Ser254Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002988" "0" "30" "17" "17697058" "17697058" "subst" "3.32325E-5" "01804" "RAI1_000211" "g.17697058C>T" "" "" "" "RAI1(NM_030665.3):c.796C>T (p.(Leu266Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002989" "0" "30" "17" "17697304" "17697304" "subst" "1.62693E-5" "01804" "RAI1_000212" "g.17697304C>T" "" "" "" "RAI1(NM_030665.3):c.1042C>T (p.(Arg348Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002990" "0" "30" "17" "17697394" "17697394" "subst" "8.12645E-6" "01804" "RAI1_000213" "g.17697394A>G" "" "" "" "RAI1(NM_030665.3):c.1132A>G (p.(Ser378Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002991" "0" "30" "17" "17697395" "17697395" "subst" "3.25084E-5" "01804" "RAI1_000214" "g.17697395G>C" "" "" "" "RAI1(NM_030665.3):c.1133G>C (p.(Ser378Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002992" "0" "30" "17" "17697404" "17697404" "subst" "0.00376291" "01804" "RAI1_000078" "g.17697404C>T" "" "" "" "RAI1(NM_030665.3):c.1142C>T (p.A381V, p.(Ala381Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002993" "0" "30" "17" "17698117" "17698117" "subst" "1.63321E-5" "01804" "RAI1_000215" "g.17698117G>A" "" "" "" "RAI1(NM_030665.3):c.1855G>A (p.(Gly619Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002994" "0" "30" "17" "17698207" "17698207" "subst" "0" "01804" "RAI1_000216" "g.17698207T>A" "" "" "" "RAI1(NM_030665.3):c.1945T>A (p.(Cys649Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002995" "0" "30" "17" "17698750" "17698750" "subst" "2.85744E-5" "01804" "RAI1_000217" "g.17698750G>A" "" "" "" "RAI1(NM_030665.3):c.2488G>A (p.(Glu830Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002996" "0" "30" "17" "17698852" "17698852" "subst" "8.8795E-6" "01804" "RAI1_000218" "g.17698852G>A" "" "" "" "RAI1(NM_030665.3):c.2590G>A (p.(Asp864Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002997" "0" "50" "17" "17699081" "17699081" "subst" "0" "01804" "RAI1_000219" "g.17699081G>A" "" "" "" "RAI1(NM_030665.3):c.2819G>A (p.(Ser940Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002998" "0" "50" "17" "17699351" "17699351" "subst" "0" "01804" "RAI1_000220" "g.17699351G>A" "" "" "" "RAI1(NM_030665.3):c.3089G>A (p.(Cys1030Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002999" "0" "30" "17" "17699404" "17699404" "subst" "0" "01804" "RAI1_000221" "g.17699404G>A" "" "" "" "RAI1(NM_030665.3):c.3142G>A (p.(Ala1048Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003000" "0" "30" "17" "17700157" "17700157" "subst" "3.26627E-5" "01804" "RAI1_000222" "g.17700157G>A" "" "" "" "RAI1(NM_030665.3):c.3895G>A (p.(Asp1299Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003001" "0" "30" "17" "17700373" "17700373" "subst" "4.06375E-6" "01804" "RAI1_000223" "g.17700373G>A" "" "" "" "RAI1(NM_030665.3):c.4111G>A (p.(Ala1371Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003002" "0" "30" "17" "17700629" "17700629" "subst" "0" "01804" "RAI1_000224" "g.17700629A>C" "" "" "" "RAI1(NM_030665.3):c.4367A>C (p.(His1456Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003003" "0" "30" "17" "17700739" "17700739" "subst" "0" "01804" "RAI1_000225" "g.17700739G>A" "" "" "" "RAI1(NM_030665.3):c.4477G>A (p.(Gly1493Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003004" "0" "30" "17" "17707167" "17707167" "subst" "1.62843E-5" "01804" "RAI1_000152" "g.17707167C>T" "" "" "" "RAI1(NM_030665.3):c.5659+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003005" "0" "30" "17" "17712761" "17712761" "subst" "0" "01804" "RAI1_000226" "g.17712761A>G" "" "" "" "RAI1(NM_030665.3):c.5709+8A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003006" "0" "30" "17" "17720642" "17720642" "subst" "0" "01804" "RAI1_000227" "g.17720642G>C" "" "" "" "SREBF1(NM_004176.4):c.1534C>G (p.(Leu512Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015477" "0" "50" "17" "17696546" "17696546" "subst" "0.000104809" "02325" "RAI1_000089" "g.17696546C>T" "" "" "" "RAI1(NM_030665.3):c.284C>T (p.P95L), RAI1(NM_030665.4):c.284C>T (p.P95L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026823" "0" "50" "17" "17697849" "17697849" "subst" "4.08637E-6" "02325" "RAI1_000229" "g.17697849C>G" "" "" "" "RAI1(NM_030665.4):c.1587C>G (p.F529L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026824" "0" "30" "17" "17701711" "17701711" "subst" "6.84158E-5" "02325" "RAI1_000171" "g.17701711G>A" "" "" "" "RAI1(NM_030665.4):c.5449G>A (p.G1817R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041657" "0" "30" "17" "17697099" "17697099" "subst" "0" "01804" "RAI1_000007" "g.17697099G>A" "" "" "" "RAI1(NM_030665.4):c.837G>A (p.(Gln279=)), RAI1(NM_030665.4):c.837_838delGCinsAC (p.Q279_Q280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041658" "0" "50" "17" "17697108" "17697134" "del" "0" "01804" "RAI1_000230" "g.17697108_17697134del" "" "" "" "RAI1(NM_030665.4):c.846_872del (p.(Gln283_Gln291del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041659" "0" "30" "17" "17698375" "17698375" "subst" "0" "01804" "RAI1_000231" "g.17698375C>T" "" "" "" "RAI1(NM_030665.4):c.2113C>T (p.(Pro705Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041660" "0" "30" "17" "17699220" "17699220" "subst" "8.26932E-6" "01804" "RAI1_000232" "g.17699220C>T" "" "" "" "RAI1(NM_030665.4):c.2958C>T (p.(Ile986=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041661" "0" "10" "17" "17700005" "17700010" "del" "0" "01804" "RAI1_000174" "g.17700005_17700010del" "" "" "" "RAI1(NM_030665.3):c.3743_3748delGCAGCA (p.S1248_S1249del), RAI1(NM_030665.4):c.3743_3748del (p.(Ser1248_Ser1249del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001041662" "0" "30" "17" "17700788" "17700788" "subst" "0.00113801" "01804" "RAI1_000168" "g.17700788A>G" "" "" "" "RAI1(NM_030665.3):c.4526A>G (p.Q1509R), RAI1(NM_030665.4):c.4526A>G (p.(Gln1509Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041663" "0" "30" "17" "17717013" "17717013" "subst" "0.00196176" "01804" "RAI1_000233" "g.17717013G>A" "" "" "" "SREBF1(NM_004176.5):c.2972C>T (p.(Pro991Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041664" "0" "50" "17" "17740083" "17740083" "subst" "0" "01804" "RAI1_000234" "g.17740083C>A" "" "" "" "SREBF1(NM_004176.5):c.49G>T (p.(Glu17Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046597" "0" "50" "17" "17697114" "17697134" "del" "0" "02325" "RAI1_000024" "g.17697114_17697134del" "" "" "" "RAI1(NM_030665.3):c.832_852del (p.(Gln285_Gln291del)), RAI1(NM_030665.3):c.852_872delGCAGCAGCAGCAGCAGCAGCA (p.Q285_Q291del), RAI1(NM_030665.4):c.85..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048208" "0" "90" "17" "17720597" "17720597" "subst" "0" "00006" "SREBF1_000004" "g.17720597G>A" "" "{PMID:Irurzun 2021:33742461}" "" "NM_001005291.3:c.1669C>T (Arg557Cys)" "" "De novo" "" "" "0" "" "" "g.17817283G>A" "" "pathogenic (dominant)" "" "0001055884" "0" "50" "17" "17698040" "17698040" "subst" "2.90401E-5" "01804" "RAI1_000235" "g.17698040A>C" "" "" "" "RAI1(NM_030665.4):c.1778A>C (p.(Asp593Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055885" "0" "30" "17" "17698428" "17698428" "subst" "4.06141E-6" "01804" "RAI1_000236" "g.17698428T>C" "" "" "" "RAI1(NM_030665.4):c.2166T>C (p.(Thr722=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055886" "0" "50" "17" "17700490" "17700490" "subst" "1.2192E-5" "01804" "RAI1_000237" "g.17700490G>A" "" "" "" "RAI1(NM_030665.4):c.4228G>A (p.(Gly1410Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055887" "0" "50" "17" "17700695" "17700695" "subst" "1.23141E-5" "01804" "RAI1_000238" "g.17700695G>A" "" "" "" "RAI1(NM_030665.4):c.4433G>A (p.(Arg1478Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055888" "0" "50" "17" "17701273" "17701273" "subst" "0" "01804" "RAI1_000239" "g.17701273C>T" "" "" "" "RAI1(NM_030665.4):c.5011C>T (p.(His1671Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058269" "0" "90" "17" "17720597" "17720597" "subst" "0" "00006" "SREBF1_000004" "g.17720597G>A" "" "{PMID:Wang 2024:38184101}" "" "NM_004176.4:c.1669C>T (Arg557Cys)" "ACMG PS2_mod, PS4, PM2_sup, PP1_strong, PP4" "Germline" "" "" "0" "" "" "g.17817283G>A" "" "pathogenic (dominant)" "ACMG" "0001066658" "0" "30" "17" "17696401" "17696401" "subst" "0.000541478" "02325" "RAI1_000087" "g.17696401G>A" "" "" "" "RAI1(NM_030665.3):c.139G>A (p.(Ala47Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066659" "0" "50" "17" "17697101" "17697102" "del" "0" "02325" "chr17_010926" "g.17697101_17697102del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066660" "0" "30" "17" "17697102" "17697108" "del" "0" "02325" "chr17_010927" "g.17697102_17697108del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066661" "0" "30" "17" "17699744" "17699744" "subst" "2.85605E-5" "01804" "chr17_010928" "g.17699744G>A" "" "" "" "RAI1(NM_030665.4):c.3482G>A (p.(Arg1161Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066662" "0" "30" "17" "17699917" "17699917" "subst" "0.000343679" "02325" "chr17_010929" "g.17699917C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066663" "0" "50" "17" "17700008" "17700010" "dup" "0" "01804" "chr17_010930" "g.17700008_17700010dup" "" "" "" "RAI1(NM_030665.4):c.3746_3748dup (p.(Ser1249dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066664" "0" "50" "17" "17700623" "17700623" "subst" "0" "02325" "chr17_010931" "g.17700623G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066665" "0" "50" "17" "17701106" "17701106" "subst" "0" "02325" "chr17_010932" "g.17701106A>G" "" "" "" "" "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 SREBF1 ## Count = 254 "{{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}}" "0000249471" "00020279" "30" "22284" "0" "22286" "0" "c.*18840_*18842dup" "r.(=)" "p.(=)" "" "0000254582" "00020279" "30" "20342" "0" "20342" "0" "c.*16898T>C" "r.(=)" "p.(=)" "" "0000297541" "00020279" "30" "21177" "0" "21177" "0" "c.*17733G>A" "r.(=)" "p.(=)" "" "0000297542" "00020279" "10" "21126" "0" "21126" "0" "c.*17682C>T" "r.(=)" "p.(=)" "" "0000297543" "00020279" "50" "21068" "0" "21068" "0" "c.*17624G>A" "r.(=)" "p.(=)" "" "0000297544" "00020279" "10" "22849" "0" "22849" "0" "c.*19405C>G" "r.(=)" "p.(=)" "" "0000297545" "00020279" "50" "20210" "0" "20210" "0" "c.*16766C>T" "r.(=)" "p.(=)" "" "0000297547" "00020279" "30" "19340" "0" "19342" "0" "c.*15896_*15898del" "r.(=)" "p.(=)" "" "0000297548" "00020279" "10" "18606" "0" "18606" "0" "c.*15162C>A" "r.(=)" "p.(=)" "" "0000297549" "00020279" "50" "18527" "0" "18527" "0" "c.*15083A>G" "r.(=)" "p.(=)" "" "0000297550" "00020279" "10" "22625" "0" "22625" "0" "c.*19181G>T" "r.(=)" "p.(=)" "" "0000297551" "00020279" "10" "12275" "0" "12275" "0" "c.*8831A>G" "r.(=)" "p.(=)" "" "0000297552" "00020279" "30" "22508" "0" "22508" "0" "c.*19064G>A" "r.(=)" "p.(=)" "" "0000297553" "00020279" "10" "22280" "0" "22281" "0" "c.*18836_*18837del" "r.(=)" "p.(=)" "" "0000297554" "00020279" "10" "22281" "0" "22281" "0" "c.*18837C>T" "r.(=)" "p.(=)" "" "0000297555" "00020279" "10" "22278" "0" "22278" "0" "c.*18834del" "r.(?)" "p.(=)" "" "0000297556" "00020279" "10" "22275" "0" "22286" "0" "c.*18831_*18842del" "r.(=)" "p.(=)" "" "0000297557" "00020279" "10" "22278" "0" "22286" "0" "c.*18834_*18842del" "r.(=)" "p.(=)" "" "0000297558" "00020279" "10" "22284" "0" "22286" "0" "c.*18840_*18842del" "r.(=)" "p.(=)" "" "0000299243" "00020279" "50" "21308" "0" "21308" "0" "c.*17864G>A" "r.(=)" "p.(=)" "" "0000299244" "00020279" "90" "20658" "0" "20658" "0" "c.*17214del" "r.(?)" "p.(=)" "" "0000301350" "00020279" "90" "21695" "0" "21695" "0" "c.*18251G>A" "r.(=)" "p.(=)" "" "0000301351" "00020279" "30" "19468" "0" "19468" "0" "c.*16024C>T" "r.(=)" "p.(=)" "" "0000301352" "00020279" "30" "22275" "0" "22286" "0" "c.*18831_*18842del" "r.(=)" "p.(=)" "" "0000301353" "00020279" "30" "22284" "0" "22286" "0" "c.*18840_*18842del" "r.(=)" "p.(=)" "" "0000306736" "00020279" "30" "23017" "0" "23017" "0" "c.*19573C>T" "r.(=)" "p.(=)" "" "0000306737" "00020279" "30" "21968" "0" "21968" "0" "c.*18524C>T" "r.(=)" "p.(=)" "" "0000306738" "00020279" "30" "21839" "0" "21839" "0" "c.*18395G>A" "r.(=)" "p.(=)" "" "0000306739" "00020279" "10" "21792" "0" "21792" "0" "c.*18348C>T" "r.(=)" "p.(=)" "" "0000306740" "00020279" "10" "21618" "0" "21618" "0" "c.*18174C>T" "r.(=)" "p.(=)" "" "0000306741" "00020279" "10" "20211" "0" "20211" "0" "c.*16767G>A" "r.(=)" "p.(=)" "" "0000306742" "00020279" "30" "19761" "0" "19761" "0" "c.*16317G>A" "r.(=)" "p.(=)" "" "0000306743" "00020279" "50" "19067" "0" "19067" "0" "c.*15623C>A" "r.(=)" "p.(=)" "" "0000306744" "00020279" "10" "18606" "0" "18606" "0" "c.*15162C>A" "r.(=)" "p.(=)" "" "0000306745" "00020279" "50" "18263" "0" "18263" "0" "c.*14819C>A" "r.(=)" "p.(=)" "" "0000306746" "00020279" "30" "18082" "0" "18082" "0" "c.*14638G>A" "r.(=)" "p.(=)" "" "0000306747" "00020279" "30" "12274" "0" "12274" "0" "c.*8830C>T" "r.(=)" "p.(=)" "" "0000306748" "00020279" "30" "22393" "0" "22393" "0" "c.*18949G>A" "r.(=)" "p.(=)" "" "0000306749" "00020279" "10" "22269" "0" "22278" "0" "c.*18825_*18834del" "r.(=)" "p.(=)" "" "0000306750" "00020279" "10" "22278" "0" "22278" "0" "c.*18834C>T" "r.(=)" "p.(=)" "" "0000306751" "00020279" "30" "22275" "0" "22286" "0" "c.*18831_*18842del" "r.(=)" "p.(=)" "" "0000306752" "00020279" "10" "22284" "0" "22286" "0" "c.*18840_*18842del" "r.(=)" "p.(=)" "" "0000325234" "00020279" "30" "22508" "0" "22508" "0" "c.*19064G>A" "r.(=)" "p.(=)" "" "0000325235" "00020279" "50" "22281" "0" "22286" "0" "c.*18837_*18842dup" "r.(=)" "p.(=)" "" "0000325236" "00020279" "50" "22275" "0" "22286" "0" "c.*18831_*18842dup" "r.(=)" "p.(=)" "" "0000325239" "00020279" "50" "22284" "0" "22286" "0" "c.*18840_*18842dup" "r.(=)" "p.(=)" "" "0000325242" "00020279" "50" "22281" "0" "22286" "0" "c.*18837_*18842del" "r.(=)" "p.(=)" "" "0000325244" "00020279" "50" "22278" "0" "22286" "0" "c.*18834_*18842del" "r.(=)" "p.(=)" "" "0000325245" "00020279" "50" "22266" "0" "22286" "0" "c.*18822_*18842del" "r.(=)" "p.(=)" "" "0000325250" "00020279" "50" "22284" "0" "22286" "0" "c.*18840_*18842del" "r.(=)" "p.(=)" "" "0000325262" "00020279" "50" "20836" "0" "20836" "0" "c.*17392T>G" "r.(=)" "p.(=)" "" "0000325264" "00020279" "50" "19865" "0" "19865" "0" "c.*16421C>G" "r.(=)" "p.(=)" "" "0000325265" "00020279" "50" "19609" "0" "19609" "0" "c.*16165T>C" "r.(=)" "p.(=)" "" "0000325266" "00020279" "30" "19340" "0" "19342" "0" "c.*15896_*15898del" "r.(=)" "p.(=)" "" "0000325268" "00020279" "50" "18466" "0" "18466" "0" "c.*15022G>A" "r.(=)" "p.(=)" "" "0000325269" "00020279" "50" "18263" "0" "18263" "0" "c.*14819C>A" "r.(=)" "p.(=)" "" "0000325270" "00020279" "50" "12253" "0" "12253" "0" "c.*8809G>A" "r.(=)" "p.(=)" "" "0000325271" "00020279" "50" "6087" "0" "6087" "0" "c.*2643A>G" "r.(=)" "p.(=)" "" "0000325272" "00020279" "50" "2602" "3" "2602" "3" "c.2602+3G>T" "r.spl?" "p.?" "" "0000337359" "00020279" "30" "134340" "0" "134340" "0" "c.*130896T>G" "r.(=)" "p.(=)" "" "0000339555" "00020279" "10" "22281" "0" "22281" "0" "c.*18837C>T" "r.(=)" "p.(=)" "" "0000339556" "00020279" "10" "21126" "0" "21126" "0" "c.*17682C>T" "r.(=)" "p.(=)" "" "0000339557" "00020279" "10" "12275" "0" "12275" "0" "c.*8831A>G" "r.(=)" "p.(=)" "" "0000341117" "00020279" "50" "19777" "0" "19777" "0" "c.*16333G>A" "r.(=)" "p.(=)" "" "0000341193" "00020279" "50" "18407" "0" "18407" "0" "c.*14963C>T" "r.(=)" "p.(=)" "" "0000341416" "00020279" "10" "21976" "0" "21976" "0" "c.*18532G>A" "r.(=)" "p.(=)" "" "0000342012" "00020279" "70" "18308" "0" "18308" "0" "c.*14864G>A" "r.(=)" "p.(=)" "" "0000346320" "00020279" "10" "22849" "0" "22849" "0" "c.*19405C>G" "r.(=)" "p.(=)" "" "0000348231" "00020279" "10" "22625" "0" "22625" "0" "c.*19181G>T" "r.(=)" "p.(=)" "" "0000349678" "00020279" "70" "22756" "0" "22756" "0" "c.*19312C>T" "r.(=)" "p.(=)" "" "0000560471" "00020279" "30" "22979" "0" "22979" "0" "c.*19535C>T" "r.(=)" "p.(=)" "" "0000560473" "00020279" "50" "22834" "0" "22834" "0" "c.*19390G>A" "r.(=)" "p.(=)" "" "0000560474" "00020279" "30" "22508" "0" "22508" "0" "c.*19064G>A" "r.(=)" "p.(=)" "" "0000560475" "00020279" "30" "22430" "0" "22430" "0" "c.*18986C>T" "r.(=)" "p.(=)" "" "0000560476" "00020279" "30" "22393" "0" "22393" "0" "c.*18949G>A" "r.(=)" "p.(=)" "" "0000560477" "00020279" "30" "22393" "0" "22393" "0" "c.*18949G>A" "r.(=)" "p.(=)" "" "0000560483" "00020279" "30" "22280" "0" "22281" "0" "c.*18836_*18837del" "r.(=)" "p.(=)" "" "0000560484" "00020279" "30" "22275" "0" "22278" "0" "c.*18831_*18834del" "r.(=)" "p.(=)" "" "0000560486" "00020279" "10" "22269" "0" "22278" "0" "c.*18825_*18834del" "r.(=)" "p.(=)" "" "0000560487" "00020279" "10" "22278" "0" "22278" "0" "c.*18834del" "r.(?)" "p.(=)" "" "0000560489" "00020279" "10" "22278" "0" "22278" "0" "c.*18834del" "r.(?)" "p.(=)" "" "0000560490" "00020279" "30" "22278" "0" "22278" "0" "c.*18834del" "r.(?)" "p.(=)" "" "0000560491" "00020279" "30" "22266" "0" "22286" "0" "c.*18822_*18842del" "r.(=)" "p.(=)" "" "0000560492" "00020279" "30" "22272" "0" "22286" "0" "c.*18828_*18842del" "r.(=)" "p.(=)" "" "0000560493" "00020279" "30" "22275" "0" "22286" "0" "c.*18831_*18842del" "r.(=)" "p.(=)" "" "0000560495" "00020279" "10" "22278" "0" "22286" "0" "c.*18834_*18842del" "r.(=)" "p.(=)" "" "0000560496" "00020279" "10" "22281" "0" "22286" "0" "c.*18837_*18842del" "r.(=)" "p.(=)" "" "0000560498" "00020279" "30" "22284" "0" "22286" "0" "c.*18840_*18842dup" "r.(=)" "p.(=)" "" "0000560499" "00020279" "10" "22284" "0" "22286" "0" "c.*18840_*18842dup" "r.(=)" "p.(=)" "" "0000560500" "00020279" "90" "22151" "0" "22166" "0" "c.*18707_*18722dup" "r.(=)" "p.(=)" "" "0000560501" "00020279" "30" "22146" "0" "22146" "0" "c.*18702C>T" "r.(=)" "p.(=)" "" "0000560502" "00020279" "30" "22036" "0" "22036" "0" "c.*18592G>A" "r.(=)" "p.(=)" "" "0000560503" "00020279" "10" "21976" "0" "21976" "0" "c.*18532G>A" "r.(=)" "p.(=)" "" "0000560504" "00020279" "50" "21916" "0" "21916" "0" "c.*18472G>A" "r.(=)" "p.(=)" "" "0000560505" "00020279" "30" "21580" "0" "21580" "0" "c.*18136T>C" "r.(=)" "p.(=)" "" "0000560506" "00020279" "50" "21530" "0" "21530" "0" "c.*18086G>A" "r.(=)" "p.(=)" "" "0000560508" "00020279" "30" "21374" "0" "21374" "0" "c.*17930C>T" "r.(=)" "p.(=)" "" "0000560509" "00020279" "30" "21192" "0" "21192" "0" "c.*17748C>T" "r.(=)" "p.(=)" "" "0000560510" "00020279" "30" "21177" "0" "21177" "0" "c.*17733G>A" "r.(=)" "p.(=)" "" "0000560511" "00020279" "30" "21117" "0" "21117" "0" "c.*17673C>T" "r.(=)" "p.(=)" "" "0000560512" "00020279" "90" "20581" "0" "20581" "0" "c.*17137del" "r.(?)" "p.(=)" "" "0000560513" "00020279" "30" "20449" "0" "20449" "0" "c.*17005G>A" "r.(=)" "p.(=)" "" "0000560514" "00020279" "30" "20315" "0" "20315" "0" "c.*16871C>T" "r.(=)" "p.(=)" "" "0000560517" "00020279" "30" "20021" "0" "20021" "0" "c.*16577G>C" "r.(=)" "p.(=)" "" "0000560518" "00020279" "90" "20021" "0" "20021" "0" "c.*16577dup" "r.(?)" "p.(=)" "" "0000560519" "00020279" "30" "19367" "0" "19367" "0" "c.*15923C>T" "r.(=)" "p.(=)" "" "0000560520" "00020279" "30" "19340" "0" "19342" "0" "c.*15896_*15898del" "r.(=)" "p.(=)" "" "0000560521" "00020279" "10" "19327" "0" "19327" "0" "c.*15883T>C" "r.(=)" "p.(=)" "" "0000560522" "00020279" "70" "19282" "0" "19282" "0" "c.*15838del" "r.(?)" "p.(=)" "" "0000560523" "00020279" "30" "19269" "0" "19269" "0" "c.*15825C>T" "r.(=)" "p.(=)" "" "0000560524" "00020279" "30" "19233" "0" "19233" "0" "c.*15789C>A" "r.(=)" "p.(=)" "" "0000560525" "00020279" "30" "19085" "0" "19085" "0" "c.*15641C>A" "r.(=)" "p.(=)" "" "0000560526" "00020279" "30" "19075" "0" "19075" "0" "c.*15631G>A" "r.(=)" "p.(=)" "" "0000560527" "00020279" "30" "18845" "0" "18845" "0" "c.*15401T>C" "r.(=)" "p.(=)" "" "0000560528" "00020279" "30" "18773" "0" "18773" "0" "c.*15329G>A" "r.(=)" "p.(=)" "" "0000560529" "00020279" "30" "18752" "0" "18752" "0" "c.*15308G>T" "r.(=)" "p.(=)" "" "0000560531" "00020279" "50" "18680" "0" "18680" "0" "c.*15236T>C" "r.(=)" "p.(=)" "" "0000560534" "00020279" "30" "18487" "0" "18487" "0" "c.*15043C>T" "r.(=)" "p.(=)" "" "0000560535" "00020279" "30" "18442" "0" "18442" "0" "c.*14998C>T" "r.(=)" "p.(=)" "" "0000560536" "00020279" "30" "18425" "0" "18425" "0" "c.*14981C>T" "r.(=)" "p.(=)" "" "0000560537" "00020279" "30" "18301" "0" "18301" "0" "c.*14857G>A" "r.(=)" "p.(=)" "" "0000560539" "00020279" "30" "18095" "0" "18095" "0" "c.*14651C>G" "r.(=)" "p.(=)" "" "0000560540" "00020279" "30" "17914" "0" "17914" "0" "c.*14470G>A" "r.(=)" "p.(=)" "" "0000560546" "00020279" "30" "2378" "0" "2378" "0" "c.2378A>G" "r.(?)" "p.(Asn793Ser)" "" "0000616371" "00020279" "30" "22399" "0" "22399" "0" "c.*18955G>A" "r.(=)" "p.(=)" "" "0000616372" "00020279" "30" "22269" "0" "22286" "0" "c.*18825_*18842del" "r.(=)" "p.(=)" "" "0000616373" "00020279" "30" "21468" "0" "21468" "0" "c.*18024G>A" "r.(=)" "p.(=)" "" "0000616375" "00020279" "30" "19437" "0" "19437" "0" "c.*15993G>C" "r.(=)" "p.(=)" "" "0000616376" "00020279" "50" "18823" "0" "18823" "0" "c.*15379G>A" "r.(=)" "p.(=)" "" "0000616377" "00020279" "30" "17938" "0" "17938" "0" "c.*14494C>T" "r.(=)" "p.(=)" "" "0000616379" "00020279" "30" "12213" "0" "12213" "0" "c.*8769G>A" "r.(=)" "p.(=)" "" "0000616380" "00020279" "30" "340" "0" "340" "0" "c.340C>T" "r.(?)" "p.(Pro114Ser)" "" "0000623630" "00020279" "30" "20671" "0" "20671" "0" "c.*17227C>A" "r.(=)" "p.(=)" "" "0000623631" "00020279" "30" "20214" "0" "20214" "0" "c.*16770C>T" "r.(=)" "p.(=)" "" "0000623632" "00020279" "30" "19711" "0" "19711" "0" "c.*16267G>A" "r.(=)" "p.(=)" "" "0000623633" "00020279" "30" "18999" "0" "18999" "0" "c.*15555G>A" "r.(=)" "p.(=)" "" "0000658052" "00020279" "10" "22281" "0" "22286" "0" "c.*18837_*18842del" "r.(=)" "p.(=)" "" "0000667806" "00020279" "90" "1582" "0" "1584" "0" "c.1582_1584del" "r.(?)" "p.(Asn528del)" "" "0000667807" "00020279" "90" "1582" "0" "1584" "0" "c.1582_1584del" "r.(?)" "p.(Asn528del)" "" "0000667808" "00020279" "90" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527Cys)" "" "0000667809" "00020279" "90" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527Cys)" "" "0000667810" "00020279" "90" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527Cys)" "" "0000667811" "00020279" "90" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527Cys)" "" "0000667812" "00020279" "90" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527Cys)" "" "0000667813" "00020279" "90" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527Cys)" "" "0000667814" "00020279" "90" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527Cys)" "" "0000667815" "00020279" "90" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527Cys)" "" "0000667816" "00020279" "90" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527Cys)" "" "0000667817" "00020279" "90" "1589" "0" "1589" "0" "c.1589T>C" "r.(?)" "p.(Leu530Pro)" "" "0000667818" "00020279" "90" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527Cys)" "" "0000680796" "00020279" "30" "21984" "0" "21984" "0" "c.*18540G>A" "r.(=)" "p.(=)" "" "0000680797" "00020279" "30" "21462" "0" "21462" "0" "c.*18018G>A" "r.(=)" "p.(=)" "" "0000680798" "00020279" "90" "19417" "0" "19417" "0" "c.*15973del" "r.(?)" "p.(=)" "" "0000680799" "00020279" "30" "19351" "0" "19351" "0" "c.*15907C>A" "r.(=)" "p.(=)" "" "0000692273" "00020279" "30" "22787" "0" "22787" "0" "c.*19343G>A" "r.(=)" "p.(=)" "" "0000692274" "00020279" "10" "22281" "0" "22286" "0" "c.*18837_*18842del" "r.(=)" "p.(=)" "" "0000692275" "00020279" "50" "20669" "0" "20669" "0" "c.*17225C>T" "r.(=)" "p.(=)" "" "0000692276" "00020279" "30" "19468" "0" "19468" "0" "c.*16024C>T" "r.(=)" "p.(=)" "" "0000726208" "00020279" "90" "22755" "0" "22755" "0" "c.*19311C>T" "r.(=)" "p.(=)" "" "0000726209" "00020279" "10" "22275" "0" "22278" "0" "c.*18831_*18834del" "r.(=)" "p.(=)" "" "0000726210" "00020279" "30" "22036" "0" "22036" "0" "c.*18592G>A" "r.(=)" "p.(=)" "" "0000726211" "00020279" "30" "21468" "0" "21468" "0" "c.*18024G>A" "r.(=)" "p.(=)" "" "0000726212" "00020279" "50" "21410" "0" "21410" "0" "c.*17966C>G" "r.(=)" "p.(=)" "" "0000726213" "00020279" "90" "20865" "0" "20865" "0" "c.*17421del" "r.(?)" 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