### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DST) # 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}}" "DST" "dystonin" "6" "p12.1" "unknown" "NC_000006.11" "UD_132118492255" "" "https://www.LOVD.nl/DST" "" "1" "1090" "667" "113810" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-02-25 17:41:49" "00006" "2026-03-06 17:26:39" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00006723" "DST" "transcript variant 1e" "002" "NM_001723.5" "" "NP_001714.1" "" "" "" "-108" "8891" "7950" "56507694" "56479374" "" "0000-00-00 00:00:00" "" "" "00026049" "DST" "transcript variant 4 (removed from reference sequence) (removed from reference sequence)" "000" "NM_001374736.1" "" "NP_001361665.1" "" "" "MANE select" "-243" "24466" "23457" "1" "1" "00006" "2026-02-24 20:07:44" "" "" ## 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" "03695" "HSAN6" "neuropathy, sensory and autonomic, hereditary, type VI (HSAN-6)" "AR" "614653" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03941" "EBSB2" "epidermolysis bullosa simplex, autosomal recessive, type 2 (EBSB-2)" "AR" "615425" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DST" "03695" "DST" "03941" ## 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}}" "00294157" "" "" "" "33" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294158" "" "" "" "135" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294159" "" "" "" "78" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294160" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294161" "" "" "" "142" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294162" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294163" "" "" "" "148" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294164" "" "" "" "148" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305107" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305108" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305109" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305110" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305111" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00472673" "" "" "" "1" "" "00006" "{PMID:Estevez-Arias 2025:39333429}" "patient" "" "" "" "" "0" "" "" "" "Pat39" "00473382" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam207778Pat664" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00294157" "00198" "00294158" "00198" "00294159" "00198" "00294160" "00198" "00294161" "00198" "00294162" "00198" "00294163" "00198" "00294164" "00198" "00305107" "00198" "00305108" "00198" "00305109" "00198" "00305110" "00198" "00305111" "00198" "00472673" "05618" "00473382" "05113" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03695, 03941, 05113, 05618 ## Count = 2 "{{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}}" "0000357469" "05618" "00472673" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000358177" "05113" "00473382" "00006" "Unknown" "30y" "distal lower muscle neuropathy, hand tremor, foot drop , frequent falling, steppage gait and axonal sensorimotor polyneuropathy." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" ## 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}}" "0000295325" "00294157" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295326" "00294158" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295327" "00294159" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295328" "00294160" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295329" "00294161" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295330" "00294162" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295331" "00294163" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295332" "00294164" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306236" "00305107" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306237" "00305108" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306238" "00305109" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306239" "00305110" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306240" "00305111" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000474341" "00472673" "1" "00006" "00006" "2026-02-25 09:06:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000475051" "00473382" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 523 "{{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}}" "0000246439" "0" "50" "6" "56418281" "56418281" "subst" "0.000741079" "02330" "DST_000119" "g.56418281A>T" "" "" "" "DST(NM_001144769.2):c.8952T>A (p.F2984L), DST(NM_001144769.5):c.8952T>A (p.F2984L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56553483A>T" "" "VUS" "" "0000246458" "0" "10" "6" "56334947" "56334947" "subst" "8.16567E-6" "02330" "DST_000062" "g.56334947A>G" "" "" "" "DST(NM_001144769.5):c.16098T>C (p.D5366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56470149A>G" "" "benign" "" "0000246459" "0" "10" "6" "56391183" "56391183" "subst" "0.00497225" "02330" "DST_000096" "g.56391183A>G" "" "" "" "DST(NM_001144769.5):c.11748T>C (p.D3916=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56526385A>G" "" "benign" "" "0000246460" "0" "10" "6" "56494071" "56494071" "subst" "0.0247611" "02330" "DST_000028" "g.56494071A>G" "" "" "" "DST(NM_001144769.5):c.4353T>C (p.N1451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56629273A>G" "" "benign" "" "0000246461" "0" "10" "6" "56505063" "56505063" "subst" "0.0552008" "02330" "DST_000042" "g.56505063A>G" "" "" "" "DST(NM_001144769.5):c.2269T>C (p.L757=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56640265A>G" "" "benign" "" "0000246462" "0" "10" "6" "56569104" "56569104" "subst" "0.15819" "02330" "DST_000208" "g.56569104A>G" "" "" "" "DST(NM_001144769.5):c.751T>C (p.L251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56704306A>G" "" "benign" "" "0000246473" "0" "10" "6" "56507489" "56507489" "subst" "0.0551897" "02330" "DST_000047" "g.56507489A>G" "" "" "" "DST(NM_015548.5):c.98T>C (p.L33S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56642691A>G" "" "benign" "" "0000246475" "0" "10" "6" "56492845" "56492845" "subst" "0.00590702" "02330" "DST_000027" "g.56492845A>C" "" "" "" "DST(NM_001144769.5):c.4491T>G (p.N1497K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56628047A>C" "" "benign" "" "0000246497" "0" "10" "6" "56427004" "56427004" "subst" "0.00614754" "02330" "DST_000133" "g.56427004A>G" "" "" "" "DST(NM_001144769.5):c.7649-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56562206A>G" "" "benign" "" "0000246519" "0" "30" "6" "56437021" "56437021" "subst" "0.00547326" "02330" "DST_000138" "g.56437021A>G" "" "" "" "DST(NM_001144769.5):c.7241T>C (p.V2414A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56572223A>G" "" "likely benign" "" "0000254484" "0" "30" "6" "56498951" "56498951" "subst" "0.00119725" "01943" "DST_000030" "g.56498951A>G" "" "" "" "DST(NM_001144769.2):c.3501T>C (p.I1167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56634153A>G" "" "likely benign" "" "0000254489" "0" "30" "6" "56485224" "56485224" "subst" "0" "01943" "DST_000023" "g.56485224A>G" "" "" "" "DST(NM_001723.5):c.3608T>C (p.I1203T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56620426A>G" "" "likely benign" "" "0000254566" "0" "30" "6" "56506784" "56506784" "subst" "2.44141E-5" "01943" "DST_000046" "g.56506784A>G" "" "" "" "DST(NM_001144769.2):c.1889T>C (p.I630T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56641986A>G" "" "likely benign" "" "0000254659" "0" "30" "6" "56489351" "56489351" "subst" "0.00036221" "01943" "DST_000026" "g.56489351A>G" "" "" "" "DST(NM_001144769.2):c.4807T>C (p.L1603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56624553A>G" "" "likely benign" "" "0000255096" "0" "30" "6" "56328426" "56328426" "subst" "0.00460237" "01943" "DST_000060" "g.56328426A>G" "" "" "" "DST(NM_001144769.2):c.16467T>C (p.T5489=), DST(NM_001144769.5):c.16467T>C (p.T5489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56463628A>G" "" "likely benign" "" "0000255811" "0" "50" "6" "56418281" "56418281" "subst" "0.000741079" "01943" "DST_000119" "g.56418281A>T" "" "" "" "DST(NM_001144769.2):c.8952T>A (p.F2984L), DST(NM_001144769.5):c.8952T>A (p.F2984L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56553483A>T" "" "VUS" "" "0000265643" "0" "30" "6" "56507603" "56507605" "del" "0" "02330" "DST_000049" "g.56507603_56507605del" "" "" "" "DST(NM_015548.5):c.-18_-16delATC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56642805_56642807del" "" "likely benign" "" "0000265644" "0" "30" "6" "56707946" "56707946" "subst" "0.00240341" "02330" "DST_000216" "g.56707946C>G" "" "" "" "DST(NM_183380.4):c.-3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56843148C>G" "" "likely benign" "" "0000265646" "0" "10" "6" "56397220" "56397220" "subst" "0.00497675" "02330" "DST_000108" "g.56397220G>A" "" "" "" "DST(NM_001144769.5):c.10673C>T (p.A3558V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56532422G>A" "" "benign" "" "0000265647" "0" "50" "6" "56394908" "56394908" "subst" "8.43263E-6" "02330" "DST_000106" "g.56394908G>A" "" "" "" "DST(NM_001144769.5):c.10775C>T (p.S3592L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56530110G>A" "" "VUS" "" "0000265648" "0" "50" "6" "56392449" "56392449" "subst" "8.1363E-6" "02330" "DST_000103" "g.56392449C>T" "" "" "" "DST(NM_001144769.2):c.11407G>A (p.A3803T), DST(NM_001144769.5):c.11407G>A (p.A3803T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56527651C>T" "" "VUS" "" "0000265649" "0" "10" "6" "56391375" "56391375" "subst" "0.00491241" "02330" "DST_000100" "g.56391375T>C" "" "" "" "DST(NM_001144769.5):c.11566-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56526577T>C" "" "benign" "" "0000265650" "0" "50" "6" "56391241" "56391241" "subst" "4.06706E-6" "02330" "DST_000098" "g.56391241T>C" "" "" "" "DST(NM_001144769.2):c.11690A>G (p.D3897G), DST(NM_001144769.5):c.11690A>G (p.D3897G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56526443T>C" "" "VUS" "" "0000265651" "0" "10" "6" "56376091" "56376091" "subst" "0.0361621" "02330" "DST_000094" "g.56376091C>T" "" "" "" "DST(NM_001144769.5):c.12327G>A (p.E4109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56511293C>T" "" "benign" "" "0000265652" "0" "10" "6" "56373536" "56373536" "subst" "0.038776" "02330" "DST_000090" "g.56373536C>T" "" "" "" "DST(NM_001144769.5):c.12673G>A (p.D4225N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56508738C>T" "" "benign" "" "0000265653" "0" "10" "6" "56515787" "56515787" "subst" "0.0573379" "02330" "DST_000207" "g.56515787G>A" "" "" "" "DST(NM_001144769.5):c.1272C>T (p.Y424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56650989G>A" "" "benign" "" "0000265654" "0" "50" "6" "56357844" "56357844" "subst" "0.000954073" "02330" "DST_000080" "g.56357844T>C" "" "" "" "DST(NM_001144769.2):c.14081A>G (p.N4694S), DST(NM_001144769.5):c.14081A>G (p.N4694S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56493046T>C" "" "VUS" "" "0000265655" "0" "10" "6" "56351973" "56351973" "subst" "0.000710798" "02330" "DST_000076" "g.56351973G>A" "" "" "" "DST(NM_001144769.5):c.14619C>T (p.N4873=), DST(NM_001374736.1):c.20976C>T (p.N6992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56487175G>A" "" "benign" "" "0000265656" "0" "10" "6" "56351952" "56351952" "subst" "0.00736811" "02330" "DST_000074" "g.56351952C>T" "" "" "" "DST(NM_001144769.2):c.14640G>A (p.L4880=), DST(NM_001144769.5):c.14640G>A (p.L4880=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56487154C>T" "" "benign" "" "0000265659" "0" "10" "6" "56346999" "56347000" "del" "0" "02330" "DST_000069" "g.56346999_56347000del" "" "" "" "DST(NM_001144769.5):c.15046-11_15046-10delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56482201_56482202del" "" "benign" "" "0000265660" "0" "10" "6" "56342136" "56342136" "subst" "0.0148706" "02330" "DST_000068" "g.56342136C>T" "" "" "" "DST(NM_001144769.5):c.15318+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56477338C>T" "" "benign" "" "0000265661" "0" "30" "6" "56337038" "56337038" "subst" "0.00307055" "02330" "DST_000065" "g.56337038C>G" "" "" "" "DST(NM_001144769.5):c.15638-18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56472240C>G" "" "likely benign" "" "0000265662" "0" "50" "6" "56336882" "56336882" "subst" "2.0314E-5" "02330" "DST_000063" "g.56336882T>C" "" "" "" "DST(NM_001144769.5):c.15776A>G (p.N5259S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56472084T>C" "" "VUS" "" "0000265663" "0" "10" "6" "56327856" "56327856" "subst" "0.024915" "02330" "DST_000055" "g.56327856C>T" "" "" "" "DST(NM_001144769.5):c.16629G>A (p.V5543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56463058C>T" "" "benign" "" "0000265664" "0" "10" "6" "56327849" "56327849" "subst" "0.246242" "02330" "DST_000054" "g.56327849C>T" "" "" "" "DST(NM_001144769.5):c.16636G>A (p.A5546T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56463051C>T" "" "benign" "" "0000265665" "0" "10" "6" "56323854" "56323854" "subst" "0.000284884" "02330" "DST_000053" "g.56323854C>T" "" "" "" "DST(NM_001144769.5):c.16977G>A (p.T5659=), DST(NM_001374736.1):c.23406G>A (p.T7802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56459056C>T" "" "benign" "" "0000265666" "0" "30" "6" "56819196" "56819196" "subst" "0.000128469" "02330" "BEND6_000003" "g.56819196G>T" "" "" "" "DST(NM_001144769.5):c.181+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56954398G>T" "" "likely benign" "" "0000265667" "0" "30" "6" "56818622" "56818622" "subst" "5.54959E-5" "02330" "BEND6_000002" "g.56818622G>A" "" "" "" "DST(NM_001144769.5):c.182-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56953824G>A" "" "likely benign" "" "0000265668" "0" "50" "6" "56505306" "56505306" "subst" "0.000568639" "02330" "DST_000045" "g.56505306T>C" "" "" "" "DST(NM_001144769.5):c.2026A>G (p.M676V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56640508T>C" "" "VUS" "" "0000265669" "0" "10" "6" "56505175" "56505175" "subst" "0.00416755" "02330" "DST_000044" "g.56505175T>A" "" "" "" "DST(NM_001144769.2):c.2157A>T (p.S719=), DST(NM_001144769.5):c.2157A>T (p.S719=), DST(NM_001374736.1):c.2256A>T (p.S752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56640377T>A" "" "benign" "" "0000265670" "0" "30" "6" "56505081" "56505081" "subst" "0.00308291" "02330" "DST_000043" "g.56505081G>C" "" "" "" "DST(NM_001144769.2):c.2251C>G (p.P751A), DST(NM_001144769.5):c.2251C>G (p.P751A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56640283G>C" "" "likely benign" "" "0000265671" "0" "50" "6" "56504842" "56504842" "subst" "0.000687159" "02330" "DST_000041" "g.56504842C>T" "" "" "" "DST(NM_001144769.5):c.2405G>A (p.R802H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56640044C>T" "" "VUS" "" "0000265672" "0" "30" "6" "56765378" "56765378" "subst" "0.00147256" "02330" "DST_000219" "g.56765378T>C" "" "" "" "DST(NM_001144769.2):c.258A>G (p.A86=), DST(NM_001144769.5):c.258A>G (p.A86=), DST(NM_001374736.1):c.258A>G (p.A86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56900580T>C" "" "likely benign" "" "0000265673" "0" "50" "6" "56504406" "56504406" "subst" "8.13253E-6" "02330" "DST_000038" "g.56504406T>C" "" "" "" "DST(NM_001144769.5):c.2602A>G (p.T868A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56639608T>C" "" "VUS" "" "0000265674" "0" "50" "6" "56504070" "56504070" "subst" "8.13326E-6" "02330" "DST_000035" "g.56504070C>A" "" "" "" "DST(NM_001144769.5):c.2852G>T (p.R951L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56639272C>A" "" "VUS" "" "0000265675" "0" "10" "6" "56500447" "56500447" "subst" "4.07077E-6" "02330" "DST_000033" "g.56500447C>T" "" "" "" "DST(NM_001144769.2):c.3027G>A (p.K1009=), DST(NM_001144769.5):c.3027G>A (p.K1009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56635649C>T" "" "benign" "" "0000265676" "0" "50" "6" "56485396" "56485396" "subst" "0.000476357" "02330" "DST_000024" "g.56485396T>C" "" "" "" "DST(NM_001723.7):c.3436A>G (p.M1146V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56620598T>C" "" "VUS" "" "0000265677" "0" "10" "6" "56498987" "56498987" "subst" "2.03419E-5" "02330" "DST_000031" "g.56498987T>C" "" "" "" "DST(NM_001144769.5):c.3465A>G (p.V1155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56634189T>C" "" "benign" "" "0000265678" "0" "10" "6" "56485023" "56485023" "subst" "0.022491" "02330" "DST_000022" "g.56485023T>C" "" "" "" "DST(NM_001723.5):c.3809A>G (p.K1270R), DST(NM_001723.7):c.3809A>G (p.K1270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56620225T>C" "" "benign" "" "0000265679" "0" "10" "6" "56495196" "56495196" "subst" "4.11279E-6" "02330" "DST_000029" "g.56495196T>C" "" "" "" "DST(NM_001144769.5):c.4044-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56630398T>C" "" "benign" "" "0000265680" "0" "10" "6" "56484758" "56484758" "subst" "0.364591" "02330" "DST_000019" "g.56484758C>T" "" "" "" "DST(NM_001723.7):c.4074G>A (p.K1358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56619960C>T" "" "benign" "" "0000265681" "0" "50" "6" "56479227" "56479227" "subst" "2.87356E-5" "02330" "DST_000002" "g.56479227T>G" "" "" "" "DST(NM_001144769.2):c.4886A>C (p.K1629T), DST(NM_001144769.5):c.4886A>C (p.K1629T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56614429T>G" "" "VUS" "" "0000265682" "0" "50" "6" "56483797" "56483797" "subst" "1.21993E-5" "02330" "DST_000016" "g.56483797T>A" "" "" "" "DST(NM_001723.5):c.5035A>T (p.K1679*), DST(NM_001723.7):c.5035A>T (p.K1679*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56618999T>A" "" "VUS" "" "0000265683" "0" "50" "6" "56483737" "56483737" "subst" "0.000390542" "02330" "DST_000015" "g.56483737C>T" "" "" "" "DST(NM_001723.6):c.5095G>A (p.E1699K), DST(NM_001723.7):c.5095G>A (p.E1699K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56618939C>T" "" "VUS" "" "0000265684" "0" "10" "6" "56463410" "56463410" "subst" "0.358047" "02330" "DST_000152" "g.56463410T>C" "" "" "" "DST(NM_001144769.5):c.5435A>G (p.Q1812R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56598612T>C" "" "benign" "" "0000265685" "0" "10" "6" "56482994" "56482994" "subst" "4.0659E-6" "02330" "DST_000014" "g.56482994G>A" "" "" "" "DST(NM_001723.7):c.5838C>T (p.L1946=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56618196G>A" "" "benign" "" "0000265686" "0" "30" "6" "56482940" "56482940" "subst" "0.000724048" "02330" "DST_000013" "g.56482940G>A" "" "" "" "DST(NM_001723.5):c.5892C>T (p.T1964=), DST(NM_001723.6):c.5892C>T (p.T1964=), DST(NM_001723.7):c.5892C>T (p.T1964=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56618142G>A" "" "likely benign" "" "0000265687" "0" "10" "6" "56482801" "56482801" "subst" "0.389116" "02330" "DST_000012" "g.56482801C>G" "" "" "" "DST(NM_001723.7):c.6031G>C (p.V2011L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56618003C>G" "" "benign" "" "0000265688" "0" "30" "6" "56819326" "56819326" "subst" "0.00490212" "02330" "BEND6_000004" "g.56819326G>C" "" "" "" "DST(NM_001144769.2):c.60C>G (p.F20L), DST(NM_001144769.5):c.60C>G (p.F20L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56954528G>C" "" "likely benign" "" "0000265689" "0" "10" "6" "56481632" "56481632" "subst" "0.0249234" "02330" "DST_000009" "g.56481632T>C" "" "" "" "DST(NM_001723.7):c.6633A>G (p.A2211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56616834T>C" "" "benign" "" "0000265690" "0" "10" "6" "56438615" "56438615" "subst" "8.14399E-6" "02330" "DST_000142" "g.56438615G>A" "" "" "" "DST(NM_001144769.5):c.6741C>T (p.T2247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56573817G>A" "" "benign" "" "0000265691" "0" "50" "6" "56600036" "56600036" "subst" "0" "02330" "DST_000213" "g.56600036T>C" "" "" "" "DST(NM_001144769.5):c.677A>G (p.H226R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56735238T>C" "" "VUS" "" "0000265692" "0" "10" "6" "56437081" "56437081" "subst" "0.00752324" "02330" "DST_000139" "g.56437081T>C" "" "" "" "DST(NM_001144769.5):c.7198-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56572283T>C" "" "benign" "" "0000265693" "0" "50" "6" "56434719" "56434719" "subst" "9.00223E-5" "02330" "DST_000136" "g.56434719T>C" "" "" "" "DST(NM_001144769.5):c.7456A>G (p.K2486E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56569921T>C" "" "VUS" "" "0000265694" "0" "10" "6" "56434712" "56434712" "subst" "0.00695819" "02330" "DST_000135" "g.56434712G>T" "" "" "" "DST(NM_001144769.5):c.7463C>A (p.P2488H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56569914G>T" "" "benign" "" "0000265695" "0" "30" "6" "56480708" "56480708" "subst" "8.13127E-5" "02330" "DST_000006" "g.56480708C>T" "" "" "" "DST(NM_001723.7):c.7557G>A (p.Q2519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56615910C>T" "" "likely benign" "" "0000265696" "0" "10" "6" "56426931" "56426931" "subst" "0.362578" "02330" "DST_000131" "g.56426931C>T" "" "" "" "DST(NM_001144769.5):c.7711+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56562133C>T" "" "benign" "" "0000265697" "0" "10" "6" "56480500" "56480500" "subst" "0.0249394" "02330" "DST_000004" "g.56480500T>C" "" "" "" "DST(NM_001723.5):c.7765A>G (p.I2589V), DST(NM_001723.7):c.7765A>G (p.I2589V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56615702T>C" "" "benign" "" "0000265698" "0" "10" "6" "56422323" "56422323" "del" "0.022911" "02330" "DST_000125" "g.56422323del" "" "" "" "DST(NM_001144769.5):c.8084-7delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56557525del" "" "benign" "" "0000265699" "0" "10" "6" "56420538" "56420538" "subst" "0.295273" "02330" "DST_000123" "g.56420538C>T" "" "" "" "DST(NM_001144769.5):c.8384G>A (p.R2795H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56555740C>T" "" "benign" "" "0000265700" "0" "50" "6" "56420431" "56420431" "subst" "0" "02330" "DST_000122" "g.56420431T>C" "" "" "" "DST(NM_001144769.5):c.8491A>G (p.T2831A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56555633T>C" "" "VUS" "" "0000265701" "0" "10" "6" "56420158" "56420158" "subst" "0.0331944" "02330" "DST_000121" "g.56420158C>T" "" "" "" "DST(NM_001144769.5):c.8764G>A (p.V2922I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56555360C>T" "" "benign" "" "0000265702" "0" "50" "6" "56417688" "56417688" "subst" "3.25224E-5" "02330" "DST_000115" "g.56417688G>A" "" "" "" "DST(NM_001144769.5):c.9545C>T (p.S3182L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56552890G>A" "" "VUS" "" "0000265703" "0" "10" "6" "56417545" "56417545" "subst" "0.70261" "02330" "DST_000114" "g.56417545T>C" "" "" "" "DST(NM_001144769.5):c.9688A>G (p.T3230A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56552747T>C" "" "benign" "" "0000265704" "0" "10" "6" "56417282" "56417282" "subst" "0.757734" "02330" "DST_000112" "g.56417282C>T" "" "" "" "DST(NM_001144769.5):c.9951G>A (p.M3317I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56552484C>T" "" "benign" "" "0000267665" "0" "30" "6" "56505081" "56505081" "subst" "0.00308291" "02325" "DST_000043" "g.56505081G>C" "" "" "" "DST(NM_001144769.2):c.2251C>G (p.P751A), DST(NM_001144769.5):c.2251C>G (p.P751A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56640283G>C" "" "likely benign" "" "0000267666" "0" "50" "6" "56504791" "56504791" "subst" "0" "02325" "DST_000039" "g.56504791T>C" "" "" "" "DST(NM_001144769.5):c.2456A>G (p.H819R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56639993T>C" "" "VUS" "" "0000267667" "0" "10" "6" "56484758" "56484758" "subst" "0.364591" "02325" "DST_000019" "g.56484758C>T" "" "" "" "DST(NM_001723.7):c.4074G>A (p.K1358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56619960C>T" "" "benign" "" "0000267668" "0" "90" "6" "56483855" "56483855" "del" "0" "02325" "DST_000017" "g.56483855del" "" "" "" "DST(NM_001723.7):c.4978delG (p.V1660*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56619057del" "" "pathogenic" "" "0000267669" "0" "10" "6" "56471995" "56471995" "subst" "0" "02325" "DST_000160" "g.56471995C>T" "" "" "" "DST(NM_001144769.5):c.5184+3230G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56607197C>T" "" "benign" "" "0000267670" "0" "10" "6" "56471402" "56471402" "subst" "0" "02325" "DST_000159" "g.56471402G>A" "" "" "" "DST(NM_001144769.5):c.5184+3823C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56606604G>A" "" "benign" "" "0000267671" "0" "10" "6" "56470690" "56470690" "subst" "0" "02325" "DST_000158" "g.56470690G>A" "" "" "" "DST(NM_001144769.5):c.5184+4535C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56605892G>A" "" "benign" "" "0000267672" "0" "10" "6" "56468238" "56468238" "subst" "0" "02325" "DST_000156" "g.56468238G>A" "" "" "" "DST(NM_001144769.5):c.5185-3219C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56603440G>A" "" "benign" "" "0000267673" "0" "10" "6" "56463410" "56463410" "subst" "0.358047" "02325" "DST_000152" "g.56463410T>C" "" "" "" "DST(NM_001144769.5):c.5435A>G (p.Q1812R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56598612T>C" "" "benign" "" "0000267674" "0" "10" "6" "56482801" "56482801" "subst" "0.389116" "02325" "DST_000012" "g.56482801C>G" "" "" "" "DST(NM_001723.7):c.6031G>C (p.V2011L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56618003C>G" "" "benign" "" "0000267675" "0" "90" "6" "56481967" "56481967" "subst" "0" "02325" "DST_000011" "g.56481967G>A" "" "" "" "DST(NM_001723.7):c.6298C>T (p.Q2100*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56617169G>A" "" "pathogenic" "" "0000267676" "0" "50" "6" "56457014" "56457014" "subst" "3.26176E-5" "02325" "DST_000144" "g.56457014G>A" "" "" "" "DST(NM_001144769.5):c.6512C>T (p.P2171L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56592216G>A" "" "VUS" "" "0000267677" "0" "90" "6" "56481706" "56481706" "subst" "0" "02325" "DST_000010" "g.56481706G>A" "" "" "" "DST(NM_001723.7):c.6559C>T (p.Q2187*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56616908G>A" "" "pathogenic" "" "0000267678" "0" "10" "6" "56426931" "56426931" "subst" "0.362578" "02325" "DST_000131" "g.56426931C>T" "" "" "" "DST(NM_001144769.5):c.7711+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56562133C>T" "" "benign" "" "0000267679" "0" "10" "6" "56417545" "56417545" "subst" "0.70261" "02325" "DST_000114" "g.56417545T>C" "" "" "" "DST(NM_001144769.5):c.9688A>G (p.T3230A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56552747T>C" "" "benign" "" "0000267680" "0" "10" "6" "56417282" "56417282" "subst" "0.757734" "02325" "DST_000112" "g.56417282C>T" "" "" "" "DST(NM_001144769.5):c.9951G>A (p.M3317I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56552484C>T" "" "benign" "" "0000268759" "0" "90" "6" "56485462" "56485462" "subst" "3.66736E-5" "02329" "DST_000025" "g.56485462G>A" "" "" "" "DST(NM_001723.7):c.3370C>T (p.Q1124*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56620664G>A" "" "pathogenic" "" "0000275717" "0" "30" "6" "56397273" "56397273" "subst" "1.71484E-5" "01943" "DST_000109" "g.56397273C>T" "" "" "" "DST(NM_001144769.2):c.10620G>A (p.T3540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56532475C>T" "" "likely benign" "" "0000275718" "0" "50" "6" "56391241" "56391241" "subst" "4.06706E-6" "01943" "DST_000098" "g.56391241T>C" "" "" "" "DST(NM_001144769.2):c.11690A>G (p.D3897G), DST(NM_001144769.5):c.11690A>G (p.D3897G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56526443T>C" "" "VUS" "" "0000275719" "0" "50" "6" "56357844" "56357844" "subst" "0.000954073" "01943" "DST_000080" "g.56357844T>C" "" "" "" "DST(NM_001144769.2):c.14081A>G (p.N4694S), DST(NM_001144769.5):c.14081A>G (p.N4694S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56493046T>C" "" "VUS" "" "0000275720" "0" "10" "6" "56351952" "56351952" "subst" "0.00736811" "01943" "DST_000074" "g.56351952C>T" "" "" "" "DST(NM_001144769.2):c.14640G>A (p.L4880=), DST(NM_001144769.5):c.14640G>A (p.L4880=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56487154C>T" "" "benign" "" "0000275721" "0" "50" "6" "56338722" "56338722" "subst" "0" "01943" "DST_000066" "g.56338722G>A" "" "" "" "DST(NM_001144769.2):c.15586C>T (p.P5196S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56473924G>A" "" "VUS" "" "0000275722" "0" "30" "6" "56336896" "56336896" "subst" "0.00266526" "01943" "DST_000064" "g.56336896T>C" "" "" "" "DST(NM_001144769.2):c.15762A>G (p.R5254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56472098T>C" "" "likely benign" "" "0000275723" "0" "50" "6" "56327929" "56327929" "subst" "6.90669E-5" "01943" "DST_000057" "g.56327929T>C" "" "" "" "DST(NM_001144769.2):c.16556A>G (p.Y5519C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56463131T>C" "" "VUS" "" "0000275724" "0" "30" "6" "56505175" "56505175" "subst" "0.00416755" "01943" "DST_000044" "g.56505175T>A" "" "" "" "DST(NM_001144769.2):c.2157A>T (p.S719=), DST(NM_001144769.5):c.2157A>T (p.S719=), DST(NM_001374736.1):c.2256A>T (p.S752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56640377T>A" "" "likely benign" "" "0000275725" "0" "10" "6" "56504826" "56504826" "subst" "0.00148386" "01943" "DST_000040" "g.56504826T>G" "" "" "" "DST(NM_001144769.2):c.2421A>C (p.S807=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56640028T>G" "" "benign" "" "0000275726" "0" "50" "6" "56507562" "56507562" "subst" "0.003531" "01943" "DST_000048" "g.56507562G>A" "" "" "" "DST(NM_015548.4):c.25C>T (p.R9C), DST(NM_015548.5):c.25C>T (p.R9C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56642764G>A" "" "VUS" "" "0000275727" "0" "50" "6" "56504402" "56504402" "subst" "0.00116692" "01943" "DST_000037" "g.56504402G>C" "" "" "" "DST(NM_001144769.2):c.2606C>G (p.S869C), DST(NM_001144769.5):c.2606C>G (p.S869C), DST(NM_001374736.1):c.2705C>G (p.(Ser902Cys), p.S902C), DST(NM_0...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56639604G>C" "" "VUS" "" "0000275728" "0" "30" "6" "56504071" "56504071" "subst" "0.000219607" "01943" "DST_000036" "g.56504071G>A" "" "" "" "DST(NM_001144769.2):c.2851C>T (p.R951W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56639273G>A" "" "likely benign" "" "0000275729" "0" "30" "6" "56501439" "56501439" "subst" "1.22012E-5" "01943" "DST_000034" "g.56501439C>T" "" "" "" "DST(NM_001144769.2):c.2877G>A (p.A959=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56636641C>T" "" "likely benign" "" "0000275730" "0" "10" "6" "56498994" "56498994" "subst" "0.00131795" "01943" "DST_000032" "g.56498994C>T" "" "" "" "DST(NM_001144769.2):c.3458G>A (p.S1153N), DST(NM_001144769.5):c.3458G>A (p.S1153N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56634196C>T" "" "benign" "" "0000275731" "0" "30" "6" "56485023" "56485023" "subst" "0.022491" "01943" "DST_000022" "g.56485023T>C" "" "" "" "DST(NM_001723.5):c.3809A>G (p.K1270R), DST(NM_001723.7):c.3809A>G (p.K1270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56620225T>C" "" "likely benign" "" "0000275732" "0" "30" "6" "56484889" "56484889" "subst" "1.2217E-5" "01943" "DST_000021" "g.56484889T>C" "" "" "" "DST(NM_001723.5):c.3943A>G (p.I1315V), DST(NM_001723.7):c.3943A>G (p.I1315V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56620091T>C" "" "likely benign" "" "0000275733" "0" "30" "6" "56484783" "56484783" "subst" "0.00161052" "01943" "DST_000020" "g.56484783G>A" "" "" "" "DST(NM_001723.5):c.4049C>T (p.T1350M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56619985G>A" "" "likely benign" "" "0000275734" "0" "30" "6" "56479229" "56479229" "subst" "0" "01943" "DST_000003" "g.56479229T>C" "" "" "" "DST(NM_001144769.2):c.4884A>G (p.Q1628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56614431T>C" "" "likely benign" "" "0000275735" "0" "30" "6" "56479184" "56479184" "subst" "4.14834E-6" "01943" "DST_000001" "g.56479184C>T" "" "" "" "DST(NM_001144769.2):c.4929G>A (p.K1643=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56614386C>T" "" "likely benign" "" "0000275736" "0" "50" "6" "56483871" "56483871" "subst" "0.000362213" "01943" "DST_000018" "g.56483871G>A" "" "" "" "DST(NM_001723.5):c.4961C>T (p.A1654V), DST(NM_001723.7):c.4961C>T (p.A1654V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56619073G>A" "" "VUS" "" "0000275737" "0" "50" "6" "56462690" "56462690" "subst" "0.000820825" "01943" "DST_000151" "g.56462690T>A" "" "" "" "DST(NM_001144769.2):c.5686A>T (p.I1896F), DST(NM_001144769.5):c.5686A>T (p.I1896F), DST(NM_001374736.1):c.12043A>T (p.I4015F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56597892T>A" "" "VUS" "" "0000275738" "0" "10" "6" "56819326" "56819326" "subst" "0.00490212" "01943" "BEND6_000004" "g.56819326G>C" "" "" "" "DST(NM_001144769.2):c.60C>G (p.F20L), DST(NM_001144769.5):c.60C>G (p.F20L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56954528G>C" "" "benign" "" "0000275739" "0" "50" "6" "56458507" "56458507" "subst" "0.000396219" "01943" "DST_000148" "g.56458507C>T" "" "" "" "DST(NM_001144769.2):c.6323G>A (p.R2108H), DST(NM_001144769.5):c.6323G>A (p.R2108H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56593709C>T" "" "VUS" "" "0000275740" "0" "30" "6" "56457023" "56457023" "subst" "4.0796E-5" "01943" "DST_000145" "g.56457023G>A" "" "" "" "DST(NM_001144769.2):c.6503C>T (p.A2168V), DST(NM_001374736.1):c.12860C>T (p.A4287V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56592225G>A" "" "likely benign" "" "0000275741" "0" "30" "6" "56481374" "56481374" "subst" "4.06306E-6" "01943" "DST_000008" "g.56481374G>A" "" "" "" "DST(NM_001723.5):c.6891C>T (p.N2297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56616576G>A" "" "likely benign" "" "0000275742" "0" "30" "6" "56437826" "56437826" "subst" "0.000210093" "01943" "DST_000141" "g.56437826T>C" "" "" "" "DST(NM_001144769.2):c.6916A>G (p.I2306V), DST(NM_001144769.5):c.6916A>G (p.I2306V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56573028T>C" "" "likely benign" "" "0000275743" "0" "50" "6" "56481075" "56481075" "subst" "2.03371E-5" "01943" "DST_000007" "g.56481075G>C" "" "" "" "DST(NM_001723.5):c.7190C>G (p.T2397R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56616277G>C" "" "VUS" "" "0000275744" "0" "50" "6" "56569113" "56569113" "subst" "0.00115702" "01943" "DST_000210" "g.56569113T>C" "" "" "" "DST(NM_001144769.2):c.742A>G (p.I248V), DST(NM_001144769.5):c.742A>G (p.I248V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56704315T>C" "" "VUS" "" "0000275745" "0" "30" "6" "56480500" "56480500" "subst" "0.0249394" "01943" "DST_000004" "g.56480500T>C" "" "" "" "DST(NM_001723.5):c.7765A>G (p.I2589V), DST(NM_001723.7):c.7765A>G (p.I2589V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56615702T>C" "" "likely benign" "" "0000275746" "0" "10" "6" "56425219" "56425219" "subst" "0.000874028" "01943" "DST_000126" "g.56425219C>T" "" "" "" "DST(NM_001144769.2):c.7956G>A (p.S2652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56560421C>T" "" "benign" "" "0000343148" "0" "50" "6" "56499365" "56499365" "subst" "0" "02327" "DST_000051" "g.56499365C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56634567C>T" "" "VUS" "" "0000529140" "0" "50" "6" "56323828" "56323828" "subst" "0.000326384" "01943" "DST_000052" "g.56323828T>C" "" "" "" "DST(NM_001144769.2):c.17003A>G (p.K5668R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56459030T>C" "" "VUS" "" "0000529141" "0" "30" "6" "56327887" "56327887" "subst" "4.06329E-6" "01943" "DST_000056" "g.56327887C>T" "" "" "" "DST(NM_001144769.2):c.16598G>A (p.C5533Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56463089C>T" "" "likely benign" "" "0000529142" "0" "30" "6" "56328360" "56328360" "subst" "4.59301E-5" "01943" "DST_000058" "g.56328360T>C" "" "" "" "DST(NM_001144769.2):c.16530+3A>G, DST(NM_001144769.5):c.16530+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56463562T>C" "" "likely benign" "" "0000529143" "0" "30" "6" "56328406" "56328406" "subst" "0.00227808" "02330" "DST_000059" "g.56328406G>A" "" "" "" "DST(NM_001144769.2):c.16487C>T (p.A5496V), DST(NM_001144769.5):c.16487C>T (p.A5496V), DST(NM_001374736.1):c.22916C>T (p.A7639V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56463608G>A" "" "likely benign" "" "0000529144" "0" "30" "6" "56328426" "56328426" "subst" "0.00460237" "02330" "DST_000060" "g.56328426A>G" "" "" "" "DST(NM_001144769.2):c.16467T>C (p.T5489=), DST(NM_001144769.5):c.16467T>C (p.T5489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56463628A>G" "" "likely benign" "" "0000529145" "0" "30" "6" "56334944" "56334944" "subst" "0.000118512" "02330" "DST_000061" "g.56334944G>A" "" "" "" "DST(NM_001144769.5):c.16101C>T (p.A5367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56470146G>A" "" "likely benign" "" "0000529146" "0" "30" "6" "56341150" "56341151" "del" "0" "02330" "DST_000067" "g.56341150_56341151del" "" "" "" "DST(NM_001144769.5):c.15319-15_15319-14delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56476352_56476353del" "" "likely benign" "" "0000529147" "0" "30" "6" "56346999" "56347000" "dup" "0" "01943" "DST_000070" "g.56346999_56347000dup" "" "" "" "DST(NM_001144769.2):c.15046-11_15046-10dupTG, DST(NM_001144769.5):c.15046-11_15046-10dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56482201_56482202dup" "" "likely benign" "" "0000529148" "0" "10" "6" "56347000" "56347001" "ins" "0" "02330" "DST_000071" "g.56347000_56347001insACACACACACACACACACACACAC" "" "" "" "DST(NM_001144769.5):c.15046-10_15046-9insTGTGTGTGTGTGTGTGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56482202_56482203insACACACACACACACACACACACAC" "" "benign" "" "0000529149" "0" "30" "6" "56347000" "56347001" "ins" "0" "02330" "DST_000072" "g.56347000_56347001insACACACACACACACACACACACACAC" "" "" "" "DST(NM_001144769.5):c.15046-10_15046-9insTGTGTGTGTGTGTGTGTGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56482202_56482203insACACACACACACACACACACACACAC" "" "likely benign" "" "0000529151" "0" "10" "6" "56351972" "56351972" "subst" "0.0319726" "02330" "DST_000075" "g.56351972G>C" "" "" "" "DST(NM_001144769.5):c.14620C>G (p.L4874V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56487174G>C" "" "benign" "" "0000529153" "0" "30" "6" "56357241" "56357241" "subst" "0.00136932" "01943" "DST_000078" "g.56357241A>G" "" "" "" "DST(NM_001144769.2):c.14194-10T>C, DST(NM_001144769.5):c.14194-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56492443A>G" "" "likely benign" "" "0000529154" "0" "10" "6" "56357741" "56357741" "subst" "0.000844729" "01943" "DST_000079" "g.56357741G>A" "" "" "" "DST(NM_001144769.2):c.14184C>T (p.D4728=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56492943G>A" "" "benign" "" "0000529155" "0" "30" "6" "56362288" "56362288" "subst" "1.2219E-5" "02330" "DST_000081" "g.56362288G>A" "" "" "" "DST(NM_001144769.5):c.13755C>T (p.G4585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56497490G>A" "" "likely benign" "" "0000529156" "0" "50" "6" "56362731" "56362731" "subst" "0" "01943" "DST_000082" "g.56362731C>A" "" "" "" "DST(NM_001144769.2):c.13660G>T (p.V4554F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56497933C>A" "" "VUS" "" "0000529157" "0" "50" "6" "56366402" "56366402" "subst" "0.000181473" "02330" "DST_000083" "g.56366402C>G" "" "" "" "DST(NM_001144769.5):c.13299G>C (p.E4433D), DST(NM_001374736.1):c.19656G>C (p.(Glu6552Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56501604C>G" "" "VUS" "" "0000529158" "0" "10" "6" "56366410" "56366410" "subst" "0.00163033" "02330" "DST_000084" "g.56366410T>C" "" "" "" "DST(NM_001144769.5):c.13291A>G (p.T4431A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56501612T>C" "" "benign" "" "0000529159" "0" "30" "6" "56366429" "56366429" "subst" "0" "01943" "DST_000085" "g.56366429C>T" "" "" "" "DST(NM_001144769.2):c.13272G>A (p.E4424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56501631C>T" "" "likely benign" "" "0000529160" "0" "50" "6" "56368799" "56368799" "subst" "0" "02325" "DST_000086" "g.56368799A>G" "" "" "" "DST(NM_001144769.5):c.13205T>C (p.L4402P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56504001A>G" "" "VUS" "" "0000529161" "0" "50" "6" "56371264" "56371264" "subst" "2.04427E-5" "01943" "DST_000087" "g.56371264C>T" "" "" "" "DST(NM_001144769.2):c.13084G>A (p.V4362I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56506466C>T" "" "VUS" "" "0000529162" "0" "30" "6" "56371265" "56371265" "subst" "1.22564E-5" "02330" "DST_000088" "g.56371265G>A" "" "" "" "DST(NM_001144769.5):c.13083C>T (p.A4361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56506467G>A" "" "likely benign" "" "0000529163" "0" "30" "6" "56371507" "56371507" "subst" "0" "01943" "DST_000089" "g.56371507A>G" "" "" "" "DST(NM_001144769.2):c.12963T>C (p.C4321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56506709A>G" "" "likely benign" "" "0000529164" "0" "50" "6" "56374514" "56374514" "subst" "6.10391E-5" "02330" "DST_000091" "g.56374514T>C" "" "" "" "DST(NM_001144769.5):c.12581A>G (p.Y4194C), DST(NM_015548.4):c.11069A>G (p.(Tyr3690Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56509716T>C" "" "VUS" "" "0000529165" "0" "50" "6" "56374544" "56374544" "subst" "4.06918E-5" "02330" "DST_000092" "g.56374544G>A" "" "" "" "DST(NM_001144769.5):c.12551C>T (p.S4184L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56509746G>A" "" "VUS" "" "0000529166" "0" "50" "6" "56374604" "56374604" "subst" "8.13862E-6" "01943" "DST_000093" "g.56374604G>A" "" "" "" "DST(NM_001144769.2):c.12491C>T (p.P4164L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56509806G>A" "" "VUS" "" "0000529167" "0" "30" "6" "56382371" "56382371" "subst" "0" "01943" "DST_000095" "g.56382371T>A" "" "" "" "DST(NM_001144769.2):c.11820A>T (p.E3940D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56517573T>A" "" "likely benign" "" "0000529168" "0" "30" "6" "56391227" "56391227" "subst" "3.25447E-5" "02330" "DST_000097" "g.56391227G>T" "" "" "" "DST(NM_001144769.5):c.11704C>A (p.R3902=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56526429G>T" "" "likely benign" "" "0000529169" "0" "50" "6" "56391349" "56391349" "subst" "2.03585E-5" "01943" "DST_000099" "g.56391349G>C" "" "" "" "DST(NM_001144769.2):c.11582C>G (p.A3861G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56526551G>C" "" "VUS" "" "0000529170" "0" "50" "6" "56392293" "56392293" "subst" "0" "02327" "DST_000101" "g.56392293T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56527495T>C" "" "VUS" "" "0000529171" "0" "50" "6" "56392413" "56392413" "subst" "4.06709E-5" "02330" "DST_000102" "g.56392413G>A" "" "" "" "DST(NM_001144769.5):c.11443C>T (p.R3815W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56527615G>A" "" "VUS" "" "0000529172" "0" "50" "6" "56394374" "56394374" "subst" "0" "02330" "DST_000104" "g.56394374C>G" "" "" "" "DST(NM_001144769.2):c.11110G>C (p.A3704P), DST(NM_001144769.5):c.11110G>C (p.A3704P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56529576C>G" "" "VUS" "" "0000529173" "0" "50" "6" "56394374" "56394374" "subst" "0" "01943" "DST_000104" "g.56394374C>G" "" "" "" "DST(NM_001144769.2):c.11110G>C (p.A3704P), DST(NM_001144769.5):c.11110G>C (p.A3704P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56529576C>G" "" "VUS" "" "0000529174" "0" "50" "6" "56394819" "56394819" "subst" "0.000223772" "02330" "DST_000105" "g.56394819T>C" "" "" "" "DST(NM_001144769.2):c.10864A>G (p.I3622V), DST(NM_001144769.5):c.10864A>G (p.I3622V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56530021T>C" "" "VUS" "" "0000529175" "0" "30" "6" "56394949" "56394949" "subst" "1.46957E-5" "02330" "DST_000107" "g.56394949G>A" "" "" "" "DST(NM_001144769.5):c.10752-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56530151G>A" "" "likely benign" "" "0000529176" "0" "10" "6" "56417015" "56417015" "subst" "0.000765672" "01943" "DST_000110" "g.56417015C>T" "" "" "" "DST(NM_001144769.2):c.10218G>A (p.T3406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56552217C>T" "" "benign" "" "0000529177" "0" "10" "6" "56417192" "56417192" "subst" "0.0137946" "02330" "DST_000111" "g.56417192C>T" "" "" "" "DST(NM_001144769.5):c.10041G>A (p.L3347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56552394C>T" "" "benign" "" "0000529178" "0" "30" "6" "56417357" "56417357" "subst" "2.0357E-5" "02330" "DST_000113" "g.56417357C>G" "" "" "" "DST(NM_001144769.5):c.9876G>C (p.V3292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56552559C>G" "" "likely benign" "" "0000529179" "0" "10" "6" "56417729" "56417729" "subst" "0.00479992" "02330" "DST_000116" "g.56417729C>T" "" "" "" "DST(NM_001144769.5):c.9504G>A (p.R3168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56552931C>T" "" "benign" "" "0000529180" "0" "30" "6" "56417825" "56417825" "subst" "4.87884E-5" "02330" "DST_000117" "g.56417825G>A" "" "" "" "DST(NM_001144769.5):c.9408C>T (p.D3136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56553027G>A" "" "likely benign" "" "0000529181" "0" "10" "6" "56418006" "56418006" "subst" "0.00480453" "02330" "DST_000118" "g.56418006C>T" "" "" "" "DST(NM_001144769.5):c.9227G>A (p.C3076Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56553208C>T" "" "benign" "" "0000529182" "0" "30" "6" "56418416" "56418416" "subst" "0.000370467" "01943" "DST_000120" "g.56418416G>A" "" "" "" "DST(NM_001144769.2):c.8817C>T (p.S2939=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56553618G>A" "" "likely benign" "" "0000529183" "0" "10" "6" "56422216" "56422216" "subst" "0.0197414" "02330" "DST_000124" "g.56422216T>C" "" "" "" "DST(NM_001144769.5):c.8184A>G (p.Q2728=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56557418T>C" "" "benign" "" "0000529184" "0" "10" "6" "56425220" "56425220" "subst" "0.00229595" "02330" "DST_000127" "g.56425220G>A" "" "" "" "DST(NM_001144769.5):c.7955C>T (p.S2652L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56560422G>A" "" "benign" "" "0000529185" "0" "30" "6" "56426156" "56426156" "subst" "8.14014E-5" "01943" "DST_000128" "g.56426156G>C" "" "" "" "DST(NM_001144769.2):c.7903C>G (p.P2635A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56561358G>C" "" "likely benign" "" "0000529186" "0" "30" "6" "56426171" "56426171" "subst" "0" "01943" "DST_000129" "g.56426171T>G" "" "" "" "DST(NM_001144769.2):c.7888A>C (p.K2630Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56561373T>G" "" "likely benign" "" "0000529187" "0" "10" "6" "56426242" "56426242" "subst" "0.00433899" "02330" "DST_000130" "g.56426242T>C" "" "" "" "DST(NM_001144769.5):c.7817A>G (p.K2606R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56561444T>C" "" "benign" "" "0000529188" "0" "30" "6" "56427001" "56427001" "subst" "0" "01943" "DST_000132" "g.56427001G>A" "" "" "" "DST(NM_001144769.2):c.7649-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56562203G>A" "" "likely benign" "" "0000529190" "0" "50" "6" "56433345" "56433345" "subst" "0" "02330" "DST_000134" "g.56433345T>G" "" "" "" "DST(NM_001144769.5):c.7570A>C (p.N2524H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56568547T>G" "" "VUS" "" "0000529192" "0" "50" "6" "56437600" "56437600" "subst" "8.66415E-5" "01943" "DST_000140" "g.56437600A>G" "" "" "" "DST(NM_001144769.2):c.7142T>C (p.L2381P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56572802A>G" "" "VUS" "" "0000529193" "0" "50" "6" "56438649" "56438649" "subst" "7.3437E-5" "02330" "DST_000143" "g.56438649G>C" "" "" "" "DST(NM_001144769.5):c.6707C>G (p.S2236C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56573851G>C" "" "VUS" "" "0000529194" "0" "30" "6" "56457044" "56457044" "subst" "0.00285437" "02330" "DST_000146" "g.56457044T>C" "" "" "" "DST(NM_001144769.2):c.6482A>G (p.K2161R), DST(NM_001144769.5):c.6482A>G (p.K2161R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56592246T>C" "" "likely benign" "" "0000529195" "0" "30" "6" "56457044" "56457044" "subst" "0.00285437" "01943" "DST_000146" "g.56457044T>C" "" "" "" "DST(NM_001144769.2):c.6482A>G (p.K2161R), DST(NM_001144769.5):c.6482A>G (p.K2161R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56592246T>C" "" "likely benign" "" "0000529196" "0" "50" "6" "56457089" "56457089" "subst" "0" "02330" "DST_000147" "g.56457089C>T" "" "" "" "DST(NM_001144769.5):c.6437G>A (p.C2146Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56592291C>T" "" "VUS" "" "0000529197" "0" "10" "6" "56458551" "56458551" "subst" "0.00172825" "01943" "DST_000149" "g.56458551G>A" "" "" "" "DST(NM_001144769.2):c.6279C>T (p.D2093=), DST(NM_001374736.1):c.12636C>T (p.D4212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56593753G>A" "" "benign" "" "0000529198" "0" "10" "6" "56458836" "56458836" "subst" "0.0034263" "02330" "DST_000150" "g.56458836A>C" "" "" "" "DST(NM_001144769.5):c.5994T>G (p.T1998=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56594038A>C" "" "benign" "" "0000529199" "0" "50" "6" "56462690" "56462690" "subst" "0.000820825" "02330" "DST_000151" "g.56462690T>A" "" "" "" "DST(NM_001144769.2):c.5686A>T (p.I1896F), DST(NM_001144769.5):c.5686A>T (p.I1896F), DST(NM_001374736.1):c.12043A>T (p.I4015F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56597892T>A" "" "VUS" "" "0000529200" "0" "30" "6" "56464903" "56464903" "subst" "2.44224E-5" "02330" "DST_000154" "g.56464903G>T" "" "" "" "DST(NM_001144769.5):c.5301C>A (p.G1767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56600105G>T" "" "likely benign" "" "0000529201" "0" "30" "6" "56465027" "56465027" "subst" "0.000487656" "02326" "DST_000155" "g.56465027G>A" "" "" "" "DST(NM_001144769.2):c.5185-8C>T, DST(NM_001144769.5):c.5185-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56600229G>A" "" "likely benign" "" "0000529202" "0" "10" "6" "56470551" "56470551" "subst" "0" "02325" "DST_000157" "g.56470551T>A" "" "" "" "DST(NM_001144769.5):c.5184+4674A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56605753T>A" "" "benign" "" "0000529203" "0" "30" "6" "56476353" "56476353" "subst" "6.92605E-5" "01943" "DST_000161" "g.56476353C>T" "" "" "" "DST(NM_001144769.2):c.5001G>A (p.S1667=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56611555C>T" "" "likely benign" "" "0000529205" "0" "30" "6" "56479145" "56479145" "subst" "3.42155E-5" "01943" "DST_000163" "g.56479145T>C" "" "" "" "DST(NM_001144769.2):c.4959+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56614347T>C" "" "likely benign" "" "0000529206" "0" "50" "6" "56479215" "56479215" "subst" "0.00108546" "02330" "DST_000164" "g.56479215T>A" "" "" "" "DST(NM_001144769.2):c.4898A>T (p.N1633I), DST(NM_001144769.5):c.4898A>T (p.N1633I), DST(NM_001374736.1):c.4997A>T (p.N1666I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56614417T>A" "" "VUS" "" "0000529207" "0" "30" "6" "56479215" "56479215" "subst" "0.00108546" "01943" "DST_000164" "g.56479215T>A" "" "" "" "DST(NM_001144769.2):c.4898A>T (p.N1633I), DST(NM_001144769.5):c.4898A>T (p.N1633I), DST(NM_001374736.1):c.4997A>T (p.N1666I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56614417T>A" "" "likely benign" "" "0000529208" "0" "50" "6" "56480344" "56480344" "subst" "0" "02330" "DST_000165" "g.56480344C>T" "" "" "" "DST(NM_001723.7):c.7921G>A (p.G2641R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56615546C>T" "" "VUS" "" "0000529209" "0" "50" "6" "56480548" "56480548" "subst" "4.06653E-6" "02330" "DST_000166" "g.56480548G>A" "" "" "" "DST(NM_001723.7):c.7717C>T (p.R2573W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56615750G>A" "" "VUS" "" "0000529210" "0" "50" "6" "56480602" "56480602" "subst" "0" "01943" "DST_000167" "g.56480602A>G" "" "" "" "DST(NM_001723.5):c.7663T>C (p.C2555R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56615804A>G" "" "VUS" "" "0000529211" "0" "50" "6" "56481628" "56481628" "subst" "0" "01943" "DST_000168" "g.56481628T>G" "" "" "" "DST(NM_001723.5):c.6637A>C (p.K2213Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56616830T>G" "" "VUS" "" "0000529212" "0" "50" "6" "56481658" "56481658" "subst" "0" "01943" "DST_000169" "g.56481658C>A" "" "" "" "DST(NM_001723.5):c.6607G>T (p.E2203*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56616860C>A" "" "VUS" "" "0000529213" "0" "30" "6" "56481767" "56481767" "subst" "0.00167629" "02330" "DST_000170" "g.56481767C>T" "" "" "" "DST(NM_001723.7):c.6498G>A (p.V2166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56616969C>T" "" "likely benign" "" "0000529214" "0" "50" "6" "56481814" "56481814" "subst" "0" "01943" "DST_000171" "g.56481814T>A" "" "" "" "DST(NM_001723.5):c.6451A>T (p.I2151F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56617016T>A" "" "VUS" "" "0000529215" "0" "30" "6" "56481864" "56481864" "subst" "0.00151468" "01943" "DST_000172" "g.56481864G>A" "" "" "" "DST(NM_001723.5):c.6401C>T (p.T2134M), DST(NM_001723.6):c.6401C>T (p.T2134M), DST(NM_001723.7):c.6401C>T (p.T2134M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56617066G>A" "" "likely benign" "" "0000529216" "0" "30" "6" "56482862" "56482862" "subst" "4.06385E-6" "02330" "DST_000173" "g.56482862C>G" "" "" "" "DST(NM_001723.7):c.5970G>C (p.L1990=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618064C>G" "" "likely benign" "" "0000529217" "0" "30" "6" "56482902" "56482902" "subst" "0.000418665" "01943" "DST_000174" "g.56482902G>C" "" "" "" "DST(NM_001723.5):c.5930C>G (p.T1977R), DST(NM_001723.7):c.5930C>G (p.T1977R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618104G>C" "" "likely benign" "" "0000529218" "0" "30" "6" "56482923" "56482923" "subst" "0.00446429" "02330" "DST_000175" "g.56482923A>G" "" "" "" "DST(NM_001723.5):c.5909T>C (p.F1970S), DST(NM_001723.6):c.5909T>C (p.F1970S), DST(NM_001723.7):c.5909T>C (p.F1970S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618125A>G" "" "likely benign" "" "0000529219" "0" "50" "6" "56482923" "56482923" "subst" "0.00446429" "01943" "DST_000175" "g.56482923A>G" "" "" "" "DST(NM_001723.5):c.5909T>C (p.F1970S), DST(NM_001723.6):c.5909T>C (p.F1970S), DST(NM_001723.7):c.5909T>C (p.F1970S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618125A>G" "" "VUS" "" "0000529220" "0" "30" "6" "56482923" "56482923" "subst" "0.00446429" "02325" "DST_000175" "g.56482923A>G" "" "" "" "DST(NM_001723.5):c.5909T>C (p.F1970S), DST(NM_001723.6):c.5909T>C (p.F1970S), DST(NM_001723.7):c.5909T>C (p.F1970S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618125A>G" "" "likely benign" "" "0000529221" "0" "30" "6" "56482940" "56482940" "subst" "0.000724048" "01943" "DST_000013" "g.56482940G>A" "" "" "" "DST(NM_001723.5):c.5892C>T (p.T1964=), DST(NM_001723.6):c.5892C>T (p.T1964=), DST(NM_001723.7):c.5892C>T (p.T1964=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618142G>A" "" "likely benign" "" "0000529222" "0" "30" "6" "56483024" "56483024" "subst" "0.000264159" "02330" "DST_000176" "g.56483024T>C" "" "" "" "DST(NM_001723.7):c.5808A>G (p.E1936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618226T>C" "" "likely benign" "" "0000529223" "0" "10" "6" "56483052" "56483052" "subst" "0.00418289" "02330" "DST_000177" "g.56483052T>C" "" "" "" "DST(NM_001723.5):c.5780A>G (p.H1927R), DST(NM_001723.6):c.5780A>G (p.H1927R), DST(NM_001723.7):c.5780A>G (p.H1927R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618254T>C" "" "benign" "" "0000529224" "0" "30" "6" "56483052" "56483052" "subst" "0.00418289" "01943" "DST_000177" "g.56483052T>C" "" "" "" "DST(NM_001723.5):c.5780A>G (p.H1927R), DST(NM_001723.6):c.5780A>G (p.H1927R), DST(NM_001723.7):c.5780A>G (p.H1927R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618254T>C" "" "likely benign" "" "0000529226" "0" "50" "6" "56483679" "56483679" "subst" "0.0026519" "02330" "DST_000179" "g.56483679T>G" "" "" "" "DST(NM_001723.5):c.5153A>C (p.K1718T), DST(NM_001723.6):c.5153A>C (p.K1718T), DST(NM_001723.7):c.5153A>C (p.K1718T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618881T>G" "" "VUS" "" "0000529227" "0" "30" "6" "56483679" "56483679" "subst" "0.0026519" "01943" "DST_000179" "g.56483679T>G" "" "" "" "DST(NM_001723.5):c.5153A>C (p.K1718T), DST(NM_001723.6):c.5153A>C (p.K1718T), DST(NM_001723.7):c.5153A>C (p.K1718T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618881T>G" "" "likely benign" "" "0000529228" "0" "30" "6" "56483679" "56483679" "subst" "0.0026519" "02325" "DST_000179" "g.56483679T>G" "" "" "" "DST(NM_001723.5):c.5153A>C (p.K1718T), DST(NM_001723.6):c.5153A>C (p.K1718T), DST(NM_001723.7):c.5153A>C (p.K1718T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618881T>G" "" "likely benign" "" "0000529229" "0" "10" "6" "56483777" "56483777" "subst" "0.00762629" "02330" "DST_000180" "g.56483777A>G" "" "" "" "DST(NM_001723.7):c.5055T>C (p.N1685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618979A>G" "" "benign" "" "0000529230" "0" "10" "6" "56483852" "56483852" "subst" "0.0101449" "02330" "DST_000181" "g.56483852T>G" "" "" "" "DST(NM_001723.7):c.4980A>C (p.V1660=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56619054T>G" "" "benign" "" "0000529231" "0" "50" "6" "56483871" "56483871" "subst" "0.000362213" "02330" "DST_000018" "g.56483871G>A" "" "" "" "DST(NM_001723.5):c.4961C>T (p.A1654V), DST(NM_001723.7):c.4961C>T (p.A1654V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56619073G>A" "" "VUS" "" "0000529232" "0" "50" "6" "56484103" "56484103" "subst" "0.000118612" "02330" "DST_000182" "g.56484103C>T" "" "" "" "DST(NM_001723.5):c.4729G>A (p.(Glu1577Lys)), DST(NM_001723.7):c.4729G>A (p.E1577K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56619305C>T" "" "VUS" "" "0000529233" "0" "10" "6" "56484158" "56484158" "subst" "0.00552239" "01943" "DST_000183" "g.56484158G>A" "" "" "" "DST(NM_001723.5):c.4674C>T (p.L1558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56619360G>A" "" "benign" "" "0000529234" "0" "50" "6" "56484804" "56484804" "subst" "0" "02330" "DST_000184" "g.56484804G>A" "" "" "" "DST(NM_001723.7):c.4028C>T (p.A1343V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56620006G>A" "" "VUS" "" "0000529235" "0" "50" "6" "56484889" "56484889" "subst" "1.2217E-5" "02330" "DST_000021" "g.56484889T>C" "" "" "" "DST(NM_001723.5):c.3943A>G (p.I1315V), DST(NM_001723.7):c.3943A>G (p.I1315V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56620091T>C" "" "VUS" "" "0000529236" "0" "50" "6" "56485186" "56485186" "subst" "3.25232E-5" "02330" "DST_000185" "g.56485186G>A" "" "" "" "DST(NM_001723.7):c.3646C>T (p.R1216W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56620388G>A" "" "VUS" "" "0000529237" "0" "30" "6" "56485241" "56485241" "subst" "7.72936E-5" "02330" "DST_000186" "g.56485241G>A" "" "" "" "DST(NM_001723.7):c.3591C>T (p.R1197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56620443G>A" "" "likely benign" "" "0000529238" "0" "30" "6" "56485441" "56485441" "subst" "0" "01943" "DST_000187" "g.56485441G>C" "" "" "" "DST(NM_001723.5):c.3391C>G (p.L1131V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56620643G>C" "" "likely benign" "" "0000529239" "0" "30" "6" "56485496" "56485496" "subst" "0.00341173" "02330" "DST_000188" "g.56485496C>G" "" "" "" "DST(NM_001723.5):c.3336G>C (p.E1112D), DST(NM_001723.7):c.3336G>C (p.E1112D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56620698C>G" "" "likely benign" "" "0000529240" "0" "50" "6" "56485496" "56485496" "subst" "0.00341173" "01943" "DST_000188" "g.56485496C>G" "" "" "" "DST(NM_001723.5):c.3336G>C (p.E1112D), DST(NM_001723.7):c.3336G>C (p.E1112D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56620698C>G" "" "VUS" "" "0000529242" "0" "30" "6" "56485496" "56485496" "subst" "0.00341173" "02325" "DST_000188" "g.56485496C>G" "" "" "" "DST(NM_001723.5):c.3336G>C (p.E1112D), DST(NM_001723.7):c.3336G>C (p.E1112D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56620698C>G" "" "likely benign" "" "0000529244" "0" "50" "6" "56489407" "56489407" "subst" "1.2218E-5" "02330" "DST_000189" "g.56489407C>T" "" "" "" "DST(NM_001144769.5):c.4751G>A (p.R1584Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56624609C>T" "" "VUS" "" "0000529245" "0" "10" "6" "56489412" "56489412" "subst" "0.0102658" "02330" "DST_000190" "g.56489412C>T" "" "" "" "DST(NM_001144769.5):c.4746G>A (p.R1582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56624614C>T" "" "benign" "" "0000529246" "0" "50" "6" "56490035" "56490035" "subst" "4.87523E-5" "02330" "DST_000191" "g.56490035G>A" "" "" "" "DST(NM_001144769.5):c.4651C>T (p.R1551W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56625237G>A" "" "VUS" "" "0000529247" "0" "30" "6" "56492790" "56492790" "subst" "0.000438875" "02330" "DST_000192" "g.56492790T>A" "" "" "" "DST(NM_001144769.5):c.4539+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56627992T>A" "" "likely benign" "" "0000529249" "0" "50" "6" "56494053" "56494053" "subst" "0" "02330" "DST_000193" "g.56494053G>T" "" "" "" "DST(NM_001144769.5):c.4371C>A (p.D1457E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56629255G>T" "" "VUS" "" "0000529250" "0" "50" "6" "56494240" "56494240" "subst" "0" "02330" "DST_000194" "g.56494240T>C" "" "" "" "DST(NM_001144769.5):c.4184A>G (p.Q1395R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56629442T>C" "" "VUS" "" "0000529251" "0" "50" "6" "56495100" "56495102" "del" "0" "01943" "DST_000195" "g.56495100_56495102del" "" "" "" "DST(NM_001144769.2):c.4130_4132delAAG (p.E1377del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56630302_56630304del" "" "VUS" "" "0000529252" "0" "10" "6" "56495124" "56495124" "subst" "0.00210588" "02330" "DST_000196" "g.56495124T>C" "" "" "" "DST(NM_001144769.5):c.4101A>G (p.K1367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56630326T>C" "" "benign" "" "0000529253" "0" "30" "6" "56498994" "56498994" "subst" "0.00131795" "02330" "DST_000032" "g.56498994C>T" "" "" "" "DST(NM_001144769.2):c.3458G>A (p.S1153N), DST(NM_001144769.5):c.3458G>A (p.S1153N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56634196C>T" "" "likely benign" "" "0000529255" "0" "30" "6" "56500447" "56500447" "subst" "4.07077E-6" "01943" "DST_000033" "g.56500447C>T" "" "" "" "DST(NM_001144769.2):c.3027G>A (p.K1009=), DST(NM_001144769.5):c.3027G>A (p.K1009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56635649C>T" "" "likely benign" "" "0000529256" "0" "50" "6" "56504259" "56504259" "subst" "2.03231E-5" "02330" "DST_000197" "g.56504259C>T" "" "" "" "DST(NM_001144769.5):c.2749G>A (p.D917N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56639461C>T" "" "VUS" "" "0000529257" "0" "50" "6" "56504402" "56504402" "subst" "0.00116692" "02330" "DST_000037" "g.56504402G>C" "" "" "" "DST(NM_001144769.2):c.2606C>G (p.S869C), DST(NM_001144769.5):c.2606C>G (p.S869C), DST(NM_001374736.1):c.2705C>G (p.(Ser902Cys), p.S902C), DST(NM_0...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56639604G>C" "" "VUS" "" "0000529258" "0" "50" "6" "56504402" "56504402" "subst" "0.00116692" "01804" "DST_000037" "g.56504402G>C" "" "" "" "DST(NM_001144769.2):c.2606C>G (p.S869C), DST(NM_001144769.5):c.2606C>G (p.S869C), DST(NM_001374736.1):c.2705C>G (p.(Ser902Cys), p.S902C), DST(NM_0...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56639604G>C" "" "VUS" "" "0000529259" "0" "30" "6" "56504488" "56504488" "del" "0" "02330" "DST_000198" "g.56504488del" "" "" "" "DST(NM_001144769.5):c.2598+16delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56639690del" "" "likely benign" "" "0000529260" "0" "10" "6" "56504488" "56504488" "dup" "0" "02330" "DST_000199" "g.56504488dup" "" "" "" "DST(NM_001144769.5):c.2598+16dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56639690dup" "" "benign" "" "0000529261" "0" "50" "6" "56504562" "56504562" "subst" "0" "02330" "DST_000200" "g.56504562T>C" "" "" "" "DST(NM_001144769.5):c.2530A>G (p.T844A), DST(NM_001723.7):c.1018A>G (p.T340A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56639764T>C" "" "VUS" "" "0000529262" "0" "30" "6" "56504757" "56504757" "subst" "6.09716E-5" "01943" "DST_000201" "g.56504757T>C" "" "" "" "DST(NM_001144769.2):c.2490A>G (p.E830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56639959T>C" "" "likely benign" "" "0000529263" "0" "30" "6" "56504861" "56504861" "subst" "0.00148436" "01804" "DST_000202" "g.56504861G>A" "" "" "" "DST(NM_001144769.2):c.2392-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56640063G>A" "" "likely benign" "" "0000529264" "0" "30" "6" "56505081" "56505081" "subst" "0.00308291" "01943" "DST_000043" "g.56505081G>C" "" "" "" "DST(NM_001144769.2):c.2251C>G (p.P751A), DST(NM_001144769.5):c.2251C>G (p.P751A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56640283G>C" "" "likely benign" "" "0000529265" "0" "30" "6" "56507445" "56507445" "subst" "4.06643E-6" "01943" "DST_000203" "g.56507445C>T" "" "" "" "DST(NM_015548.4):c.142G>A (p.G48S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56642647C>T" "" "likely benign" "" "0000529266" "0" "30" "6" "56507562" "56507562" "subst" "0.003531" "02330" "DST_000048" "g.56507562G>A" "" "" "" "DST(NM_015548.4):c.25C>T (p.R9C), DST(NM_015548.5):c.25C>T (p.R9C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56642764G>A" "" "likely benign" "" "0000529267" "0" "90" "6" "56507566" "56507566" "del" "0" "02325" "DST_000204" "g.56507566del" "" "" "" "DST(NM_015548.5):c.22delT (p.Y8Tfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56642768del" "" "pathogenic" "" "0000529268" "0" "10" "6" "56510947" "56510947" "subst" "0.000708207" "01943" "DST_000205" "g.56510947T>C" "" "" "" "DST(NM_001144769.2):c.1489A>G (p.T497A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56646149T>C" "" "benign" "" "0000529269" "0" "30" "6" "56513359" "56513359" "subst" "5.64972E-6" "02330" "DST_000206" "g.56513359G>A" "" "" "" "DST(NM_001144769.5):c.1455+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56648561G>A" "" "likely benign" "" "0000529270" "0" "50" "6" "56569107" "56569107" "subst" "0" "02330" "DST_000209" "g.56569107G>C" "" "" "" "DST(NM_001144769.5):c.748C>G (p.L250V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56704309G>C" "" "VUS" "" "0000529271" "0" "30" "6" "56569177" "56569177" "subst" "4.19627E-5" "01943" "DST_000211" "g.56569177G>C" "" "" "" "DST(NM_001144769.2):c.688-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56704379G>C" "" "likely benign" "" "0000529272" "0" "30" "6" "56600010" "56600010" "subst" "0.000168252" "02330" "DST_000212" "g.56600010C>T" "" "" "" "DST(NM_001144769.5):c.687+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56735212C>T" "" "likely benign" "" "0000529273" "0" "30" "6" "56707836" "56707836" "subst" "9.90295E-6" "02330" "DST_000214" "g.56707836G>A" "" "" "" "DST(NM_001144769.5):c.625+8359C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56843038G>A" "" "likely benign" "" "0000529274" "0" "30" "6" "56707925" "56707925" "subst" "0.00122114" "02330" "DST_000215" "g.56707925G>A" "" "" "" "DST(NM_183380.4):c.19C>T (p.P7S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56843127G>A" "" "likely benign" "" "0000529276" "0" "30" "6" "56716410" "56716410" "subst" "0.000176296" "02330" "DST_000217" "g.56716410G>T" "" "" "" "DST(NM_001144769.5):c.418-8C>A, DST(NM_001374736.1):c.418-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56851612G>T" "" "likely benign" "" "0000529277" "0" "10" "6" "56765341" "56765341" "subst" "0.00787795" "02330" "DST_000218" "g.56765341C>T" "" "" "" "DST(NM_001144769.5):c.295G>A (p.V99M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56900543C>T" "" "benign" "" "0000529278" "0" "30" "6" "56765378" "56765378" "subst" "0.00147256" "01943" "DST_000219" "g.56765378T>C" "" "" "" "DST(NM_001144769.2):c.258A>G (p.A86=), DST(NM_001144769.5):c.258A>G (p.A86=), DST(NM_001374736.1):c.258A>G (p.A86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56900580T>C" "" "likely benign" "" "0000529279" "0" "30" "6" "56819399" "56819403" "dup" "0" "02330" "BEND6_000005" "g.56819399_56819403dup" "" "" "" "DST(NM_001144769.5):c.-11_-7dupTCGCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56954601_56954605dup" "" "likely benign" "" "0000610394" "0" "50" "6" "56337015" "56337015" "subst" "4.48888E-5" "01943" "DST_000221" "g.56337015G>A" "" "" "" "DST(NM_001144769.2):c.15643C>T (p.R5215C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56472217G>A" "" "VUS" "" "0000610395" "0" "30" "6" "56347000" "56347001" "ins" "0" "02330" "DST_000223" "g.56347000_56347001insACACACACACACACACACACAC" "" "" "" "DST(NM_001144769.5):c.15046-10_15046-9insTGTGTGTGTGTGTGTGTGTGTG, DST(NM_001374736.1):c.21403-10_21403-9insTGTGTGTGTGTGTGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56482202_56482203insACACACACACACACACACACAC" "" "likely benign" "" "0000610396" "0" "50" "6" "56394819" "56394819" "subst" "0.000223772" "01943" "DST_000105" "g.56394819T>C" "" "" "" "DST(NM_001144769.2):c.10864A>G (p.I3622V), DST(NM_001144769.5):c.10864A>G (p.I3622V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56530021T>C" "" "VUS" "" "0000610397" "0" "50" "6" "56420187" "56420187" "subst" "0" "02326" "DST_000224" "g.56420187A>T" "" "" "" "DST(NM_001144769.5):c.8735T>A (p.L2912Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56555389A>T" "" "VUS" "" "0000610398" "0" "50" "6" "56426182" "56426182" "subst" "6.09994E-5" "02330" "DST_000225" "g.56426182T>C" "" "" "" "DST(NM_001144769.5):c.7877A>G (p.K2626R), DST(NM_001374736.1):c.14234A>G (p.(Lys4745Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56561384T>C" "" "VUS" "" "0000610399" "0" "30" "6" "56443603" "56443603" "subst" "1.23102E-5" "01943" "DST_000226" "g.56443603A>G" "" "" "" "DST(NM_001144769.2):c.6670+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56578805A>G" "" "likely benign" "" "0000610400" "0" "50" "6" "56458507" "56458507" "subst" "0.000396219" "02330" "DST_000148" "g.56458507C>T" "" "" "" "DST(NM_001144769.2):c.6323G>A (p.R2108H), DST(NM_001144769.5):c.6323G>A (p.R2108H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56593709C>T" "" "VUS" "" "0000610401" "0" "30" "6" "56481130" "56481130" "subst" "0.00216761" "02330" "DST_000230" "g.56481130C>T" "" "" "" "DST(NM_001723.6):c.7135G>A (p.A2379T), DST(NM_001723.7):c.7135G>A (p.A2379T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56616332C>T" "" "likely benign" "" "0000610402" "0" "50" "6" "56481397" "56481397" "subst" "0.000621618" "02330" "DST_000231" "g.56481397T>C" "" "" "" "DST(NM_001723.7):c.6868A>G (p.R2290G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56616599T>C" "" "VUS" "" "0000610403" "0" "30" "6" "56484569" "56484569" "subst" "8.12691E-6" "02330" "DST_000234" "g.56484569C>T" "" "" "" "DST(NM_001723.7):c.4263G>A (p.K1421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56619771C>T" "" "likely benign" "" "0000610404" "0" "30" "6" "56507503" "56507503" "subst" "0.000500236" "02330" "DST_000243" "g.56507503A>G" "" "" "" "DST(NM_015548.5):c.84T>C (p.N28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56642705A>G" "" "likely benign" "" "0000610405" "0" "50" "6" "56513409" "56513409" "subst" "8.37622E-5" "01943" "DST_000244" "g.56513409T>C" "" "" "" "DST(NM_001144769.2):c.1414A>G (p.M472V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56648611T>C" "" "VUS" "" "0000610406" "0" "30" "6" "56515772" "56515772" "subst" "0" "02326" "DST_000245" "g.56515772A>G" "" "" "" "DST(NM_001144769.5):c.1287T>C (p.Y429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56650974A>G" "" "likely benign" "" "0000610407" "0" "30" "6" "56819338" "56819338" "subst" "8.14744E-6" "02330" "BEND6_000007" "g.56819338T>C" "" "" "" "DST(NM_001144769.5):c.48A>G (p.Q16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56954540T>C" "" "likely benign" "" "0000621724" "0" "50" "6" "56335051" "56335051" "subst" "0" "02325" "DST_000220" "g.56335051C>A" "" "" "" "DST(NM_001144769.5):c.15994G>T (p.A5332S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56470253C>A" "" "VUS" "" "0000621725" "0" "30" "6" "56346932" "56346932" "subst" "0" "02325" "DST_000222" "g.56346932C>T" "" "" "" "DST(NM_001144769.5):c.15090G>A (p.L5030=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56482134C>T" "" "likely benign" "" "0000621726" "0" "30" "6" "56462553" "56462553" "subst" "0" "01943" "DST_000227" "g.56462553T>C" "" "" "" "DST(NM_001144769.2):c.5823A>G (p.Q1941=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56597755T>C" "" "likely benign" "" "0000621727" "0" "10" "6" "56475265" "56475265" "subst" "0.00497878" "02330" "DST_000228" "g.56475265T>G" "" "" "" "DST(NM_001144769.5):c.5144A>C (p.Q1715P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56610467T>G" "" "benign" "" "0000621728" "0" "30" "6" "56480426" "56480426" "subst" "2.84636E-5" "01943" "DST_000229" "g.56480426T>G" "" "" "" "DST(NM_001723.5):c.7839A>C (p.T2613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56615628T>G" "" "likely benign" "" "0000621729" "0" "10" "6" "56483404" "56483404" "subst" "0.00156842" "02330" "DST_000232" "g.56483404A>G" "" "" "" "DST(NM_001723.7):c.5428T>C (p.Y1810H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618606A>G" "" "benign" "" "0000621730" "0" "50" "6" "56484060" "56484060" "subst" "0.000395779" "02330" "DST_000233" "g.56484060T>G" "" "" "" "DST(NM_001723.7):c.4772A>C (p.Q1591P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56619262T>G" "" "VUS" "" "0000621731" "0" "30" "6" "56485113" "56485113" "subst" "0.000105738" "01943" "DST_000235" "g.56485113T>C" "" "" "" "DST(NM_001723.5):c.3719A>G (p.N1240S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56620315T>C" "" "likely benign" "" "0000621732" "0" "30" "6" "56485458" "56485458" "subst" "4.07445E-6" "01943" "DST_000236" "g.56485458C>G" "" "" "" "DST(NM_001723.5):c.3374G>C (p.R1125P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56620660C>G" "" "likely benign" "" "0000621733" "0" "10" "6" "56485486" "56485486" "subst" "0.00526466" "02330" "DST_000237" "g.56485486G>A" "" "" "" "DST(NM_001723.7):c.3346C>T (p.H1116Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56620688G>A" "" "benign" "" "0000621734" "0" "50" "6" "56489417" "56489417" "subst" "0" "02330" "DST_000238" "g.56489417G>C" "" "" "" "DST(NM_001144769.5):c.4741C>G (p.L1581V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56624619G>C" "" "VUS" "" "0000621735" "0" "10" "6" "56494033" "56494033" "subst" "0.00157384" "02330" "DST_000239" "g.56494033A>T" "" "" "" "DST(NM_001144769.5):c.4376+15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56629235A>T" "" "benign" "" "0000621736" "0" "10" "6" "56496089" "56496089" "subst" "0.00344405" "02330" "DST_000240" "g.56496089G>A" "" "" "" "DST(NM_001144769.5):c.3963C>T (p.V1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56631291G>A" "" "benign" "" "0000621737" "0" "10" "6" "56499073" "56499073" "subst" "0.00308288" "02330" "DST_000241" "g.56499073A>G" "" "" "" "DST(NM_001144769.5):c.3396-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56634275A>G" "" "benign" "" "0000621738" "0" "10" "6" "56499262" "56499262" "subst" "0.0030785" "02330" "DST_000242" "g.56499262G>A" "" "" "" "DST(NM_001144769.5):c.3393C>T (p.N1131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56634464G>A" "" "benign" "" "0000652014" "1" "50" "6" "56480146" "56480146" "subst" "0" "03575" "DST_000246" "g.56480146T>G" "33/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "33 heterozygous, no homozygous; {DB:CLININrs17674547}" "Germline" "" "rs17674547" "0" "" "" "g.56615348T>G" "" "VUS" "" "0000652015" "1" "30" "6" "56480500" "56480500" "subst" "0.0249394" "03575" "DST_000004" "g.56480500T>C" "135/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "135 heterozygous; {DB:CLININrs150191284}" "Germline" "" "rs150191284" "0" "" "" "g.56615702T>C" "" "likely benign" "" "0000652016" "1" "30" "6" "56485023" "56485023" "subst" "0.022491" "03575" "DST_000022" "g.56485023T>C" "78/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "78 heterozygous; {DB:CLININrs35497571}" "Germline" "" "rs35497571" "0" "" "" "g.56620225T>C" "" "likely benign" "" "0000652017" "1" "10" "6" "56489412" "56489412" "subst" "0.0102658" "03575" "DST_000190" "g.56489412C>T" "9/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs41271870}" "Germline" "" "rs41271870" "0" "" "" "g.56624614C>T" "" "benign" "" "0000652018" "1" "30" "6" "56494071" "56494071" "subst" "0.0247611" "03575" "DST_000028" "g.56494071A>G" "142/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "142 heterozygous; {DB:CLININrs112640831}" "Germline" "" "rs112640831" "0" "" "" "g.56629273A>G" "" "likely benign" "" "0000652019" "1" "30" "6" "56494193" "56494193" "subst" "0.000605543" "03575" "DST_000247" "g.56494193C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs143924906}" "Germline" "" "rs143924906" "0" "" "" "g.56629395C>T" "" "likely benign" "" "0000652020" "1" "10" "6" "56505063" "56505063" "subst" "0.0552008" "03575" "DST_000042" "g.56505063A>G" "148/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "148 heterozygous; {DB:CLININrs2144407}" "Germline" "" "rs2144407" "0" "" "" "g.56640265A>G" "" "benign" "" "0000652021" "1" "10" "6" "56507489" "56507489" "subst" "0.0551897" "03575" "DST_000047" "g.56507489A>G" "148/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "148 heterozygous; {DB:CLININrs1024196}" "Germline" "" "rs1024196" "0" "" "" "g.56642691A>G" "" "benign" "" "0000655611" "0" "30" "6" "56328406" "56328406" "subst" "0.00227808" "01943" "DST_000059" "g.56328406G>A" "" "" "" "DST(NM_001144769.2):c.16487C>T (p.A5496V), DST(NM_001144769.5):c.16487C>T (p.A5496V), DST(NM_001374736.1):c.22916C>T (p.A7639V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56463608G>A" "" "likely benign" "" "0000655612" "0" "50" "6" "56335039" "56335039" "subst" "8.29139E-6" "02325" "DST_000248" "g.56335039T>C" "" "" "" "DST(NM_001144769.5):c.16006A>G (p.I5336V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56470241T>C" "" "VUS" "" "0000655613" "0" "30" "6" "56341150" "56341151" "del" "0" "02326" "DST_000067" "g.56341150_56341151del" "" "" "" "DST(NM_001144769.5):c.15319-15_15319-14delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56476352_56476353del" "" "likely benign" "" "0000655614" "0" "30" "6" "56346999" "56347000" "dup" "0" "02330" "DST_000070" "g.56346999_56347000dup" "" "" "" "DST(NM_001144769.2):c.15046-11_15046-10dupTG, DST(NM_001144769.5):c.15046-11_15046-10dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56482201_56482202dup" "" "likely benign" "" "0000655615" "0" "50" "6" "56347581" "56347581" "subst" "2.03174E-5" "01943" "DST_000249" "g.56347581G>C" "" "" "" "DST(NM_001144769.2):c.14945C>G (p.S4982C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56482783G>C" "" "VUS" "" "0000655616" "0" "50" "6" "56354349" "56354349" "subst" "8.12962E-6" "02330" "DST_000250" "g.56354349T>C" "" "" "" "DST(NM_001144769.5):c.14459A>G (p.D4820G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56489551T>C" "" "VUS" "" "0000655617" "0" "50" "6" "56380391" "56380391" "subst" "0.000886994" "01943" "DST_000251" "g.56380391G>A" "" "" "" "DST(NM_001144769.2):c.12076C>T (p.R4026W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56515593G>A" "" "VUS" "" "0000655618" "0" "30" "6" "56465027" "56465027" "subst" "0.000487656" "01943" "DST_000155" "g.56465027G>A" "" "" "" "DST(NM_001144769.2):c.5185-8C>T, DST(NM_001144769.5):c.5185-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56600229G>A" "" "likely benign" "" "0000655619" "0" "30" "6" "56476411" "56476411" "subst" "0.00103171" "02326" "DST_000252" "g.56476411G>C" "" "" "" "DST(NM_001144769.5):c.4960-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56611613G>C" "" "likely benign" "" "0000655620" "0" "30" "6" "56479254" "56479254" "subst" "4.16368E-5" "01943" "DST_000253" "g.56479254T>C" "" "" "" "DST(NM_001144769.2):c.4859A>G (p.H1620R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56614456T>C" "" "likely benign" "" "0000655621" "0" "30" "6" "56481130" "56481130" "subst" "0.00216761" "02327" "DST_000230" "g.56481130C>T" "" "" "" "DST(NM_001723.6):c.7135G>A (p.A2379T), DST(NM_001723.7):c.7135G>A (p.A2379T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56616332C>T" "" "likely benign" "" "0000655622" "0" "30" "6" "56481864" "56481864" "subst" "0.00151468" "02330" "DST_000172" "g.56481864G>A" "" "" "" "DST(NM_001723.5):c.6401C>T (p.T2134M), DST(NM_001723.6):c.6401C>T (p.T2134M), DST(NM_001723.7):c.6401C>T (p.T2134M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56617066G>A" "" "likely benign" "" "0000655623" "0" "50" "6" "56481991" "56481991" "subst" "0" "02330" "DST_000254" "g.56481991G>A" "" "" "" "DST(NM_001723.7):c.6274C>T (p.L2092F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56617193G>A" "" "VUS" "" "0000655624" "0" "50" "6" "56484119" "56484119" "subst" "8.19867E-6" "02330" "DST_000255" "g.56484119C>T" "" "" "" "DST(NM_001723.7):c.4713G>A (p.M1571I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56619321C>T" "" "VUS" "" "0000655625" "0" "10" "6" "56492781" "56492781" "subst" "0.00495174" "02330" "DST_000256" "g.56492781A>T" "" "" "" "DST(NM_001144769.5):c.4539+16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56627983A>T" "" "benign" "" "0000655626" "0" "30" "6" "56492790" "56492790" "subst" "0.000438875" "02326" "DST_000192" "g.56492790T>A" "" "" "" "DST(NM_001144769.5):c.4539+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56627992T>A" "" "likely benign" "" "0000655627" "0" "50" "6" "56504561" "56504561" "subst" "0.000443439" "01943" "DST_000257" "g.56504561G>A" "" "" "" "DST(NM_001144769.2):c.2531C>T (p.T844I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56639763G>A" "" "VUS" "" "0000655628" "0" "30" "6" "56507562" "56507562" "subst" "0.003531" "02326" "DST_000048" "g.56507562G>A" "" "" "" "DST(NM_015548.4):c.25C>T (p.R9C), DST(NM_015548.5):c.25C>T (p.R9C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56642764G>A" "" "likely benign" "" "0000655629" "0" "30" "6" "56765267" "56765267" "subst" "0.000264342" "02330" "DST_000258" "g.56765267G>C" "" "" "" "DST(NM_001144769.5):c.369C>G (p.V123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56900469G>C" "" "likely benign" "" "0000669924" "3" "30" "6" "56480500" "56480500" "subst" "0.0249394" "03575" "DST_000004" "g.56480500T>C" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs150191284}" "Germline" "" "rs150191284" "0" "" "" "g.56615702T>C" "" "likely benign" "" "0000669925" "3" "30" "6" "56485023" "56485023" "subst" "0.022491" "03575" "DST_000022" "g.56485023T>C" "3/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs35497571}" "Germline" "" "rs35497571" "0" "" "" "g.56620225T>C" "" "likely benign" "" "0000669926" "3" "30" "6" "56494071" "56494071" "subst" "0.0247611" "03575" "DST_000028" "g.56494071A>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs112640831}" "Germline" "" "rs112640831" "0" "" "" "g.56629273A>G" "" "likely benign" "" "0000669927" "3" "10" "6" "56505063" "56505063" "subst" "0.0552008" "03575" "DST_000042" "g.56505063A>G" "2/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs2144407}" "Germline" "" "rs2144407" "0" "" "" "g.56640265A>G" "" "benign" "" "0000669928" "3" "10" "6" "56507489" "56507489" "subst" "0.0551897" "03575" "DST_000047" "g.56507489A>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs1024196}" "Germline" "" "rs1024196" "0" "" "" "g.56642691A>G" "" "benign" "" "0000677813" "0" "30" "6" "56346956" "56346956" "subst" "0.0010239" "02330" "DST_000259" "g.56346956C>T" "" "" "" "DST(NM_001144769.5):c.15066G>A (p.V5022=), DST(NM_001374736.1):c.21423G>A (p.V7141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677814" "0" "30" "6" "56357241" "56357241" "subst" "0.00136932" "02330" "DST_000078" "g.56357241A>G" "" "" "" "DST(NM_001144769.2):c.14194-10T>C, DST(NM_001144769.5):c.14194-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677815" "0" "30" "6" "56362308" "56362324" "dup" "0" "02325" "DST_000260" "g.56362308_56362324dup" "" "" "" "DST(NM_001144769.5):c.13738-18_13738-2dupAACTGCCTATTACTTCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677817" "0" "50" "6" "56480641" "56480641" "subst" "6.50893E-5" "02330" "DST_000262" "g.56480641C>G" "" "" "" "DST(NM_001723.7):c.7624G>C (p.V2542L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56615843C>G" "" "VUS" "" "0000677818" "0" "30" "6" "56481130" "56481130" "subst" "0.00216761" "02326" "DST_000230" "g.56481130C>T" "" "" "" "DST(NM_001723.6):c.7135G>A (p.A2379T), DST(NM_001723.7):c.7135G>A (p.A2379T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56616332C>T" "" "likely benign" "" "0000677819" "0" "30" "6" "56483528" "56483528" "subst" "6.10486E-5" "01943" "DST_000178" "g.56483528A>G" "" "" "" "DST(NM_001723.5):c.5304T>C (p.T1768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618730A>G" "" "likely benign" "" "0000677820" "0" "30" "6" "56535586" "56535586" "subst" "0" "01943" "DST_000263" "g.56535586G>C" "" "" "" "DST(NM_001144769.2):c.968C>G (p.T323S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689759" "0" "50" "6" "56357844" "56357844" "subst" "0.000954073" "02325" "DST_000080" "g.56357844T>C" "" "" "" "DST(NM_001144769.2):c.14081A>G (p.N4694S), DST(NM_001144769.5):c.14081A>G (p.N4694S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689760" "0" "50" "6" "56358810" "56358810" "subst" "0.000174306" "02330" "DST_000264" "g.56358810T>C" "" "" "" "DST(NM_001144769.5):c.14035A>G (p.K4679E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689761" "0" "50" "6" "56358857" "56358857" "subst" "8.24368E-6" "02325" "DST_000265" "g.56358857T>G" "" "" "" "DST(NM_001144769.5):c.13988A>C (p.N4663T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689762" "0" "30" "6" "56362732" "56362732" "subst" "0" "01943" "DST_000266" "g.56362732C>T" "" "" "" "DST(NM_001144769.2):c.13659G>A (p.E4553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689763" "0" "30" "6" "56362733" "56362733" "subst" "0" "01943" "DST_000267" "g.56362733T>A" "" "" "" "DST(NM_001144769.2):c.13658A>T (p.E4553V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689764" "0" "50" "6" "56392340" "56392340" "subst" "1.22102E-5" "01943" "DST_000268" "g.56392340G>A" "" "" "" "DST(NM_001144769.2):c.11516C>T (p.T3839I), DST(NM_001144769.5):c.11516C>T (p.T3839I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689765" "0" "50" "6" "56420187" "56420188" "ins" "0" "02330" "DST_000269" "g.56420187_56420188insACTAGAA" "" "" "" "DST(NM_001144769.5):c.8735_8736insTCTAGTT (p.E2913Lfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689766" "0" "50" "6" "56420346" "56420346" "subst" "7.72923E-5" "02325" "DST_000270" "g.56420346G>A" "" "" "" "DST(NM_001144769.5):c.8576C>T (p.T2859M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689767" "0" "50" "6" "56458700" "56458700" "subst" "4.06931E-6" "02325" "DST_000271" "g.56458700C>T" "" "" "" "DST(NM_001144769.5):c.6130G>A (p.G2044S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689768" "0" "30" "6" "56465027" "56465027" "subst" "0.000487656" "02330" "DST_000155" "g.56465027G>A" "" "" "" "DST(NM_001144769.2):c.5185-8C>T, DST(NM_001144769.5):c.5185-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689769" "0" "10" "6" "56476411" "56476411" "subst" "0.00103171" "02330" "DST_000252" "g.56476411G>C" "" "" "" "DST(NM_001144769.5):c.4960-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689770" "0" "50" "6" "56480721" "56480721" "dup" "0" "01943" "DST_000272" "g.56480721dup" "" "" "" "DST(NM_001723.5):c.7544dupA (p.Q2516Afs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56615923dup" "" "VUS" "" "0000689771" "0" "10" "6" "56482826" "56482826" "subst" "0.000885768" "02330" "DST_000273" "g.56482826G>A" "" "" "" "DST(NM_001723.7):c.6006C>T (p.N2002=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618028G>A" "" "benign" "" "0000689772" "0" "30" "6" "56483679" "56483679" "subst" "0.0026519" "02326" "DST_000179" "g.56483679T>G" "" "" "" "DST(NM_001723.5):c.5153A>C (p.K1718T), DST(NM_001723.6):c.5153A>C (p.K1718T), DST(NM_001723.7):c.5153A>C (p.K1718T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618881T>G" "" "likely benign" "" "0000689773" "0" "50" "6" "56483797" "56483797" "subst" "1.21993E-5" "01943" "DST_000016" "g.56483797T>A" "" "" "" "DST(NM_001723.5):c.5035A>T (p.K1679*), DST(NM_001723.7):c.5035A>T (p.K1679*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618999T>A" "" "VUS" "" "0000689774" "0" "30" "6" "56483840" "56483840" "subst" "0" "01943" "DST_000274" "g.56483840C>A" "" "" "" "DST(NM_001723.5):c.4992G>T (p.K1664N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56619042C>A" "" "likely benign" "" "0000689775" "0" "50" "6" "56716340" "56716342" "del" "0" "02330" "DST_000275" "g.56716340_56716342del" "" "" "" "DST(NM_001144769.5):c.481_483delGAT (p.D161del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689776" "0" "10" "6" "56765342" "56765342" "subst" "0.00479522" "02330" "DST_000276" "g.56765342G>A" "" "" "" "DST(NM_001144769.5):c.294C>T (p.P98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689777" "0" "50" "6" "56818618" "56818618" "subst" "0" "01943" "BEND6_000008" "g.56818618C>T" "" "" "" "DST(NM_001144769.2):c.182-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721004" "0" "30" "6" "56328360" "56328360" "subst" "4.59301E-5" "02330" "DST_000058" "g.56328360T>C" "" "" "" "DST(NM_001144769.2):c.16530+3A>G, DST(NM_001144769.5):c.16530+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721005" "0" "50" "6" "56328400" "56328400" "subst" "1.23463E-5" "02330" "DST_000277" "g.56328400G>A" "" "" "" "DST(NM_001144769.5):c.16493C>T (p.A5498V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721006" "0" "30" "6" "56342155" "56342155" "subst" "1.21986E-5" "01943" "DST_000278" "g.56342155C>T" "" "" "" "DST(NM_001144769.2):c.15306G>A (p.A5102=), DST(NM_001374736.1):c.21663G>A (p.A7221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721007" "0" "50" "6" "56346870" "56346870" "subst" "0.000126092" "01943" "DST_000279" "g.56346870C>T" "" "" "" "DST(NM_001144769.2):c.15152G>A (p.R5051Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721008" "0" "30" "6" "56357221" "56357221" "subst" "9.91326E-5" "01943" "DST_000280" "g.56357221T>C" "" "" "" "DST(NM_001144769.2):c.14204A>G (p.N4735S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721009" "0" "50" "6" "56371451" "56371454" "del" "0" "02330" "DST_000281" "g.56371451_56371454del" "" "" "" "DST(NM_001144769.5):c.13005+15_13005+18delCTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721010" "0" "30" "6" "56397132" "56397132" "subst" "0.000982326" "02326" "DST_000282" "g.56397132T>C" "" "" "" "DST(NM_001144769.2):c.10751+10A>G, DST(NM_001144769.5):c.10751+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721011" "0" "30" "6" "56397164" "56397164" "subst" "0.000374121" "02330" "DST_000283" "g.56397164A>G" "" "" "" "DST(NM_001144769.5):c.10729T>C (p.L3577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721012" "0" "50" "6" "56425227" "56425227" "subst" "0.000497743" "01943" "DST_000284" "g.56425227A>C" "" "" "" "DST(NM_001144769.2):c.7954-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721013" "0" "10" "6" "56426265" "56426265" "subst" "0.00201751" "02330" "DST_000285" "g.56426265C>T" "" "" "" "DST(NM_001144769.5):c.7794G>A (p.A2598=), DST(NM_001374736.1):c.14151G>A (p.A4717=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721014" "0" "50" "6" "56481040" "56481040" "subst" "8.12929E-6" "02330" "DST_000286" "g.56481040G>C" "" "" "" "DST(NM_001723.7):c.7225C>G (p.Q2409E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56616242G>C" "" "VUS" "" "0000721015" "0" "30" "6" "56482940" "56482940" "subst" "0.000724048" "02326" "DST_000013" "g.56482940G>A" "" "" "" "DST(NM_001723.5):c.5892C>T (p.T1964=), DST(NM_001723.6):c.5892C>T (p.T1964=), DST(NM_001723.7):c.5892C>T (p.T1964=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618142G>A" "" "likely benign" "" "0000721016" "0" "30" "6" "56483741" "56483741" "subst" "8.9516E-5" "02330" "DST_000287" "g.56483741G>A" "" "" "" "DST(NM_001144769.5):c.4831-4459C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618943G>A" "" "likely benign" "" "0000721017" "0" "50" "6" "56484583" "56484583" "subst" "1.21926E-5" "02330" "DST_000288" "g.56484583G>T" "" "" "" "DST(NM_001723.7):c.4249C>A (p.L1417I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56619785G>T" "" "VUS" "" "0000721018" "0" "30" "6" "56485416" "56485416" "subst" "0" "02330" "DST_000289" "g.56485416T>C" "" "" "" "DST(NM_001723.7):c.3416A>G (p.K1139R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56620618T>C" "" "likely benign" "" "0000721019" "0" "10" "6" "56489429" "56489429" "subst" "0.00224366" "02330" "DST_000290" "g.56489429G>T" "" "" "" "DST(NM_001144769.5):c.4732-3C>A, DST(NM_001374736.1):c.4831-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56624631G>T" "" "benign" "" "0000721020" "0" "50" "6" "56504256" "56504256" "subst" "4.06468E-6" "02330" "DST_000291" "g.56504256A>T" "" "" "" "DST(NM_001723.7):c.1240T>A (p.Y414N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56639458A>T" "" "VUS" "" "0000721021" "0" "30" "6" "56505081" "56505081" "subst" "0.00308291" "02326" "DST_000043" "g.56505081G>C" "" "" "" "DST(NM_001144769.2):c.2251C>G (p.P751A), DST(NM_001144769.5):c.2251C>G (p.P751A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56640283G>C" "" "likely benign" "" "0000721022" "0" "50" "6" "56510943" "56510943" "subst" "6.99472E-5" "02330" "DST_000050" "g.56510943T>G" "" "" "" "DST(NM_001144769.5):c.1493A>C (p.E498A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802646" "0" "50" "6" "56323855" "56323855" "subst" "0.000154615" "02330" "DST_000292" "g.56323855G>A" "" "" "" "DST(NM_001144769.5):c.16976C>T (p.T5659M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802647" "0" "50" "6" "56346861" "56346861" "subst" "5.69402E-5" "02330" "DST_000293" "g.56346861A>G" "" "" "" "DST(NM_001144769.5):c.15161T>C (p.I5054T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802648" "0" "50" "6" "56357060" "56357060" "subst" "0" "02330" "DST_000294" "g.56357060T>C" "" "" "" "DST(NM_001144769.5):c.14365A>G (p.R4789G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802649" "0" "50" "6" "56391334" "56391334" "subst" "0" "01943" "DST_000295" "g.56391334G>A" "" "" "" "DST(NM_001144769.2):c.11597C>T (p.A3866V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802650" "0" "50" "6" "56397145" "56397145" "subst" "0" "02325" "DST_000296" "g.56397145G>A" "" "" "" "DST(NM_001144769.5):c.10748C>T (p.T3583I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802651" "0" "50" "6" "56400095" "56400095" "subst" "0" "02325" "DST_000297" "g.56400095A>T" "" "" "" "DST(NM_001144769.5):c.10414-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802652" "0" "50" "6" "56418141" "56418141" "subst" "0" "02330" "DST_000298" "g.56418141A>T" "" "" "" "DST(NM_001144769.5):c.9092T>A (p.F3031Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802653" "0" "50" "6" "56420548" "56420548" "subst" "0.000111067" "02330" "DST_000299" "g.56420548G>T" "" "" "" "DST(NM_001144769.5):c.8374C>A (p.P2792T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802654" "0" "50" "6" "56422262" "56422262" "subst" "0.000537" "01943" "DST_000300" "g.56422262T>C" "" "" "" "DST(NM_001144769.2):c.8138A>G (p.E2713G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802655" "0" "50" "6" "56437738" "56437738" "subst" "0.000286287" "01943" "DST_000301" "g.56437738A>G" "" "" "" "DST(NM_001144769.2):c.7004T>C (p.L2335S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802656" "0" "30" "6" "56458983" "56458983" "subst" "1.70164E-5" "01943" "DST_000302" "g.56458983G>A" "" "" "" "DST(NM_001144769.2):c.5847C>T (p.H1949=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802657" "0" "30" "6" "56479227" "56479227" "subst" "2.87356E-5" "01943" "DST_000002" "g.56479227T>G" "" "" "" "DST(NM_001144769.2):c.4886A>C (p.K1629T), DST(NM_001144769.5):c.4886A>C (p.K1629T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802658" "0" "30" "6" "56480741" "56480741" "subst" "4.0665E-6" "01943" "DST_000303" "g.56480741C>A" "" "" "" "DST(NM_001723.5):c.7524G>T (p.L2508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56615943C>A" "" "likely benign" "" "0000802659" "0" "50" "6" "56480770" "56480770" "subst" "4.06812E-5" "02325" "DST_000304" "g.56480770G>A" "" "" "" "DST(NM_001723.7):c.7495C>T (p.R2499W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56615972G>A" "" "VUS" "" "0000802660" "0" "50" "6" "56481427" "56481427" "subst" "3.2509E-5" "02330" "DST_000305" "g.56481427G>C" "" "" "" "DST(NM_001723.7):c.6838C>G (p.Q2280E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56616629G>C" "" "VUS" "" "0000802661" "0" "50" "6" "56483050" "56483050" "subst" "8.13035E-6" "02330" "DST_000306" "g.56483050G>A" "" "" "" "DST(NM_001723.7):c.5782C>T (p.R1928W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618252G>A" "" "VUS" "" "0000802662" "0" "30" "6" "56485346" "56485346" "subst" "4.07073E-6" "01943" "DST_000307" "g.56485346C>T" "" "" "" "DST(NM_001723.5):c.3486G>A (p.P1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56620548C>T" "" "likely benign" "" "0000802663" "0" "30" "6" "56492023" "56492023" "subst" "1.22079E-5" "01943" "DST_000308" "g.56492023T>C" "" "" "" "DST(NM_001144769.2):c.4602A>G (p.E1534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56627225T>C" "" "likely benign" "" "0000802664" "0" "30" "6" "56566781" "56566781" "subst" "6.66656E-5" "02330" "DST_000309" "g.56566781C>A" "" "" "" "DST(NM_001144769.5):c.778-18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851256" "0" "30" "6" "56397132" "56397132" "subst" "0.000982326" "02330" "DST_000282" "g.56397132T>C" "" "" "" "DST(NM_001144769.2):c.10751+10A>G, DST(NM_001144769.5):c.10751+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851257" "0" "50" "6" "56417050" "56417050" "subst" "4.0624E-6" "02330" "DST_000314" "g.56417050G>C" "" "" "" "DST(NM_001144769.5):c.10183C>G (p.H3395D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851258" "0" "50" "6" "56418374" "56418374" "subst" "4.06402E-6" "02330" "DST_000315" "g.56418374C>G" "" "" "" "DST(NM_001144769.5):c.8859G>C (p.W2953C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851259" "0" "50" "6" "56425127" "56425127" "subst" "0" "02325" "DST_000316" "g.56425127T>C" "" "" "" "DST(NM_001374736.1):c.14405A>G (p.E4802G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851260" "0" "30" "6" "56462690" "56462690" "subst" "0.000820825" "02325" "DST_000151" "g.56462690T>A" "" "" "" "DST(NM_001144769.2):c.5686A>T (p.I1896F), DST(NM_001144769.5):c.5686A>T (p.I1896F), DST(NM_001374736.1):c.12043A>T (p.I4015F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851261" "0" "30" "6" "56469764" "56469764" "subst" "0" "02326" "DST_000320" "g.56469764C>G" "" "" "" "DST(NM_001374736.1):c.9662G>C (p.G3221A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851262" "0" "30" "6" "56481864" "56481864" "subst" "0.00151468" "02326" "DST_000172" "g.56481864G>A" "" "" "" "DST(NM_001723.5):c.6401C>T (p.T2134M), DST(NM_001723.6):c.6401C>T (p.T2134M), DST(NM_001723.7):c.6401C>T (p.T2134M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56617066G>A" "" "likely benign" "" "0000851263" "0" "30" "6" "56484722" "56484722" "subst" "0.000223637" "01943" "DST_000328" "g.56484722T>C" "" "" "" "DST(NM_001723.5):c.4110A>G (p.E1370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56619924T>C" "" "likely benign" "" "0000851264" "0" "50" "6" "56495113" "56495113" "subst" "0" "01943" "DST_000330" "g.56495113G>A" "" "" "" "DST(NM_001144769.2):c.4112C>T (p.T1371I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56630315G>A" "" "VUS" "" "0000851265" "0" "50" "6" "56505044" "56505044" "subst" "4.06299E-5" "02330" "DST_000332" "g.56505044C>T" "" "" "" "DST(NM_001144769.5):c.2288G>A (p.R763Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56640246C>T" "" "VUS" "" "0000851266" "0" "30" "6" "56505175" "56505175" "subst" "0.00416755" "02326" "DST_000044" "g.56505175T>A" "" "" "" "DST(NM_001144769.2):c.2157A>T (p.S719=), DST(NM_001144769.5):c.2157A>T (p.S719=), DST(NM_001374736.1):c.2256A>T (p.S752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56640377T>A" "" "likely benign" "" "0000851267" "0" "30" "6" "56819347" "56819347" "subst" "3.26315E-5" "02330" "BEND6_000009" "g.56819347G>A" "" "" "" "DST(NM_001144769.5):c.39C>T (p.Y13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860448" "0" "50" "6" "56357865" "56357865" "subst" "6.16893E-5" "01943" "DST_000310" "g.56357865T>C" "" "" "" "DST(NM_001144769.2):c.14060A>G (p.N4687S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860449" "0" "30" "6" "56358856" "56358856" "subst" "0.000484312" "02326" "DST_000311" "g.56358856G>A" "" "" "" "DST(NM_001374736.1):c.20346C>T (p.N6782=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860450" "0" "50" "6" "56391347" "56391347" "subst" "0.000183216" "01943" "DST_000312" "g.56391347T>C" "" "" "" "DST(NM_001144769.2):c.11584A>G (p.K3862E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860451" "0" "50" "6" "56392449" "56392449" "subst" "8.1363E-6" "01943" "DST_000103" "g.56392449C>T" "" "" "" "DST(NM_001144769.2):c.11407G>A (p.A3803T), DST(NM_001144769.5):c.11407G>A (p.A3803T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860452" "0" "30" "6" "56397132" "56397132" "subst" "0.000982326" "01943" "DST_000282" "g.56397132T>C" "" "" "" "DST(NM_001144769.2):c.10751+10A>G, DST(NM_001144769.5):c.10751+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860453" "0" "50" "6" "56401694" "56401694" "subst" "0.000463136" "01943" "DST_000313" "g.56401694T>G" "" "" "" "DST(NM_001144769.2):c.10296A>C (p.Q3432H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860454" "0" "30" "6" "56433289" "56433289" "subst" "0" "01943" "DST_000317" "g.56433289C>T" "" "" "" "DST(NM_001144769.2):c.7626G>A (p.K2542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860455" "0" "10" "6" "56438701" "56438701" "subst" "0.00227949" "02330" "DST_000318" "g.56438701C>T" "" "" "" "DST(NM_001144769.5):c.6671-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860456" "0" "30" "6" "56462574" "56462574" "subst" "0.00039876" "02330" "DST_000319" "g.56462574A>C" "" "" "" "DST(NM_001144769.5):c.5802T>G (p.T1934=), DST(NM_001374736.1):c.12159T>G (p.T4053=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860457" "0" "50" "6" "56475237" "56475237" "subst" "0" "01943" "DST_000321" "g.56475237C>G" "" "" "" "DST(NM_001144769.2):c.5172G>C (p.K1724N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860458" "0" "50" "6" "56480796" "56480796" "subst" "0" "01943" "DST_000322" "g.56480796A>T" "" "" "" "DST(NM_001723.5):c.7469T>A (p.I2490N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56615998A>T" "" "VUS" "" "0000860459" "0" "30" "6" "56480981" "56480981" "subst" "0.000503795" "01943" "DST_000323" "g.56480981T>C" "" "" "" "DST(NM_001723.5):c.7284A>G (p.T2428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56616183T>C" "" "likely benign" "" "0000860460" "0" "30" "6" "56481683" "56481683" "subst" "0.000635738" "01943" "DST_000324" "g.56481683T>G" "" "" "" "DST(NM_001723.5):c.6582A>C (p.A2194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56616885T>G" "" "likely benign" "" "0000860461" "0" "30" "6" "56482923" "56482923" "subst" "0.00446429" "02326" "DST_000175" "g.56482923A>G" "" "" "" "DST(NM_001723.5):c.5909T>C (p.F1970S), DST(NM_001723.6):c.5909T>C (p.F1970S), DST(NM_001723.7):c.5909T>C (p.F1970S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618125A>G" "" "likely benign" "" "0000860462" "0" "90" "6" "56482924" "56482925" "del" "0" "02325" "DST_000325" "g.56482924_56482925del" "" "" "" "DST(NM_001723.7):c.5909_5910delTT (p.F1970*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618126_56618127del" "" "pathogenic" "" "0000860463" "0" "30" "6" "56483052" "56483052" "subst" "0.00418289" "02326" "DST_000177" "g.56483052T>C" "" "" "" "DST(NM_001723.5):c.5780A>G (p.H1927R), DST(NM_001723.6):c.5780A>G (p.H1927R), DST(NM_001723.7):c.5780A>G (p.H1927R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618254T>C" "" "likely benign" "" "0000860464" "0" "30" "6" "56483472" "56483472" "subst" "4.06825E-6" "01943" "DST_000326" "g.56483472G>C" "" "" "" "DST(NM_001723.5):c.5360C>G (p.S1787C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618674G>C" "" "likely benign" "" "0000860465" "0" "50" "6" "56483956" "56483956" "subst" "0.000105715" "01943" "DST_000327" "g.56483956G>A" "" "" "" "DST(NM_001723.5):c.4876C>T (p.R1626C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56619158G>A" "" "VUS" "" "0000860466" "0" "30" "6" "56484984" "56484984" "subst" "8.14253E-6" "01943" "DST_000329" "g.56484984T>C" "" "" "" "DST(NM_001723.5):c.3848A>G (p.N1283S, p.(Asn1283Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56620186T>C" "" "likely benign" "" "0000860467" "0" "30" "6" "56504070" "56504070" "subst" "2.03331E-5" "01943" "DST_000331" "g.56504070C>T" "" "" "" "DST(NM_001144769.2):c.2852G>A (p.R951Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56639272C>T" "" "likely benign" "" "0000860468" "0" "30" "6" "56765378" "56765378" "subst" "0.00147256" "02326" "DST_000219" "g.56765378T>C" "" "" "" "DST(NM_001144769.2):c.258A>G (p.A86=), DST(NM_001144769.5):c.258A>G (p.A86=), DST(NM_001374736.1):c.258A>G (p.A86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887347" "0" "30" "6" "56347000" "56347001" "ins" "0" "02326" "DST_000223" "g.56347000_56347001insACACACACACACACACACACAC" "" "" "" "DST(NM_001144769.5):c.15046-10_15046-9insTGTGTGTGTGTGTGTGTGTGTG, DST(NM_001374736.1):c.21403-10_21403-9insTGTGTGTGTGTGTGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887348" "0" "30" "6" "56351973" "56351973" "subst" "0.000710798" "02326" "DST_000076" "g.56351973G>A" "" "" "" "DST(NM_001144769.5):c.14619C>T (p.N4873=), DST(NM_001374736.1):c.20976C>T (p.N6992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887349" "0" "30" "6" "56371457" "56371457" "subst" "2.03684E-5" "02330" "DST_000333" "g.56371457A>C" "" "" "" "DST(NM_001144769.5):c.13005+8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887350" "0" "30" "6" "56374603" "56374603" "subst" "4.47602E-5" "02330" "DST_000334" "g.56374603G>C" "" "" "" "DST(NM_001144769.5):c.12492C>G (p.P4164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887351" "0" "50" "6" "56382103" "56382103" "subst" "1.22757E-5" "02330" "DST_000335" "g.56382103T>C" "" "" "" "DST(NM_001144769.5):c.11893A>G (p.T3965A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887352" "0" "30" "6" "56417095" "56417095" "subst" "0.00108902" "02330" "DST_000336" "g.56417095T>A" "" "" "" "DST(NM_001144769.5):c.10138A>T (p.S3380C), DST(NM_001374736.1):c.16495A>T (p.S5499C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887353" "0" "30" "6" "56420320" "56420320" "subst" "0.000423205" "02326" "DST_000337" "g.56420320A>G" "" "" "" "DST(NM_001374736.1):c.14959T>C (p.L4987=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887354" "0" "10" "6" "56426265" "56426265" "subst" "0.00201751" "02326" "DST_000285" "g.56426265C>T" "" "" "" "DST(NM_001144769.5):c.7794G>A (p.A2598=), DST(NM_001374736.1):c.14151G>A (p.A4717=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887355" "0" "50" "6" "56426995" "56426995" "subst" "0" "02330" "DST_000338" "g.56426995C>A" "" "" "" "DST(NM_001144769.5):c.7652G>T (p.G2551V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887356" "0" "50" "6" "56438599" "56438599" "subst" "4.4773E-5" "02330" "DST_000339" "g.56438599T>G" "" "" "" "DST(NM_001144769.5):c.6757A>C (p.S2253R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887357" "0" "30" "6" "56462574" "56462574" "subst" "0.00039876" "02326" "DST_000319" "g.56462574A>C" "" "" "" "DST(NM_001144769.5):c.5802T>G (p.T1934=), DST(NM_001374736.1):c.12159T>G (p.T4053=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887358" "0" "50" "6" "56462641" "56462641" "subst" "0" "02330" "DST_000340" "g.56462641A>G" "" "" "" "DST(NM_001144769.5):c.5735T>C (p.I1912T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887359" "0" "30" "6" "56466279" "56466279" "subst" "0" "02326" "DST_000341" "g.56466279T>C" "" "" "" "DST(NM_001374736.1):c.11503A>G (p.T3835A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887360" "0" "30" "6" "56471086" "56471086" "subst" "0" "02326" "DST_000342" "g.56471086G>A" "" "" "" "DST(NM_001374736.1):c.8340C>T (p.S2780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887361" "0" "50" "6" "56482881" "56482881" "subst" "4.06441E-6" "02330" "DST_000343" "g.56482881T>C" "" "" "" "DST(NM_001723.7):c.5951A>G (p.K1984R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618083T>C" "" "VUS" "" "0000887362" "0" "30" "6" "56483737" "56483737" "subst" "0.000390542" "02326" "DST_000015" "g.56483737C>T" "" "" "" "DST(NM_001723.6):c.5095G>A (p.E1699K), DST(NM_001723.7):c.5095G>A (p.E1699K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618939C>T" "" "likely benign" "" "0000887363" "0" "30" "6" "56489429" "56489429" "subst" "0.00224366" "02326" "DST_000290" "g.56489429G>T" "" "" "" "DST(NM_001144769.5):c.4732-3C>A, DST(NM_001374736.1):c.4831-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56624631G>T" "" "likely benign" "" "0000887364" "0" "50" "6" "56490058" "56490058" "subst" "0" "02330" "DST_000344" "g.56490058T>C" "" "" "" "DST(NM_001144769.5):c.4628A>G (p.Y1543C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56625260T>C" "" "VUS" "" "0000887365" "0" "50" "6" "56497810" "56497810" "subst" "0" "02330" "DST_000345" "g.56497810T>C" "" "" "" "DST(NM_001144769.5):c.3548A>G (p.H1183R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56633012T>C" "" "VUS" "" "0000887366" "0" "30" "6" "56505025" "56505025" "subst" "8.1283E-6" "02330" "DST_000346" "g.56505025A>C" "" "" "" "DST(NM_001144769.5):c.2307T>G (p.S769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56640227A>C" "" "likely benign" "" "0000887367" "0" "50" "6" "56569113" "56569113" "subst" "0.00115702" "02330" "DST_000210" "g.56569113T>C" "" "" "" "DST(NM_001144769.2):c.742A>G (p.I248V), DST(NM_001144769.5):c.742A>G (p.I248V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887368" "0" "30" "6" "56716407" "56716407" "subst" "4.08707E-6" "02330" "DST_000347" "g.56716407A>G" "" "" "" "DST(NM_001144769.5):c.418-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912553" "0" "10" "6" "56335920" "56335920" "subst" "0.00189271" "02330" "DST_000348" "g.56335920A>G" "" "" "" "DST(NM_001374736.1):c.22305T>C (p.D7435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912554" "0" "10" "6" "56418399" "56418399" "subst" "0.0022402" "02330" "DST_000349" "g.56418399T>C" "" "" "" "DST(NM_001374736.1):c.15191A>G (p.Q5064R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912555" "0" "10" "6" "56483347" "56483347" "subst" "0.00238624" "02330" "DST_000350" "g.56483347G>C" "" "" "" "DST(NM_001723.7):c.5485C>G (p.Q1829E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618549G>C" "" "benign" "" "0000912556" "0" "10" "6" "56484543" "56484543" "subst" "0.00245455" "02330" "DST_000351" "g.56484543G>A" "" "" "" "DST(NM_001723.7):c.4289C>T (p.A1430V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56619745G>A" "" "benign" "" "0000912557" "0" "50" "6" "56504562" "56504562" "subst" "0" "02325" "DST_000200" "g.56504562T>C" "" "" "" "DST(NM_001144769.5):c.2530A>G (p.T844A), DST(NM_001723.7):c.1018A>G (p.T340A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56639764T>C" "" "VUS" "" "0000924541" "0" "30" "6" "56328399" "56328399" "subst" "3.71223E-5" "02330" "DST_000352" "g.56328399C>T" "" "" "" "DST(NM_001374736.1):c.22923G>A (p.A7641=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924542" "0" "30" "6" "56328406" "56328406" "subst" "0.00227808" "02326" "DST_000059" "g.56328406G>A" "" "" "" "DST(NM_001144769.2):c.16487C>T (p.A5496V), DST(NM_001144769.5):c.16487C>T (p.A5496V), DST(NM_001374736.1):c.22916C>T (p.A7639V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924543" "0" "30" "6" "56342155" "56342155" "subst" "1.21986E-5" "02330" "DST_000278" "g.56342155C>T" "" "" "" "DST(NM_001144769.2):c.15306G>A (p.A5102=), DST(NM_001374736.1):c.21663G>A (p.A7221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924544" "0" "30" "6" "56346956" "56346956" "subst" "0.0010239" "02326" "DST_000259" "g.56346956C>T" "" "" "" "DST(NM_001144769.5):c.15066G>A (p.V5022=), DST(NM_001374736.1):c.21423G>A (p.V7141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924545" "0" "50" "6" "56392340" "56392340" "subst" "1.22102E-5" "02330" "DST_000268" "g.56392340G>A" "" "" "" "DST(NM_001144769.2):c.11516C>T (p.T3839I), DST(NM_001144769.5):c.11516C>T (p.T3839I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924546" "0" "50" "6" "56437826" "56437826" "subst" "0.000210093" "02330" "DST_000141" "g.56437826T>C" "" "" "" "DST(NM_001144769.2):c.6916A>G (p.I2306V), DST(NM_001144769.5):c.6916A>G (p.I2306V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924547" "0" "50" "6" "56484655" "56484655" "subst" "0" "02330" "DST_000353" "g.56484655G>T" "" "" "" "DST(NM_001723.7):c.4177C>A (p.Q1393K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56619857G>T" "" "VUS" "" "0000924548" "0" "50" "6" "56504348" "56504348" "subst" "0" "02330" "DST_000354" "g.56504348G>C" "" "" "" "DST(NM_001374736.1):c.2759C>G (p.T920S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56639550G>C" "" "VUS" "" "0000929208" "0" "30" "6" "56368782" "56368782" "subst" "0" "02330" "DST_000355" "g.56368782C>T" "" "" "" "DST(NM_001374736.1):c.19566+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929209" "0" "30" "6" "56458551" "56458551" "subst" "0.00172825" "02326" "DST_000149" "g.56458551G>A" "" "" "" "DST(NM_001144769.2):c.6279C>T (p.D2093=), DST(NM_001374736.1):c.12636C>T (p.D4212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929210" "0" "30" "6" "56470380" "56470380" "subst" "0" "02326" "DST_000356" "g.56470380A>G" "" "" "" "DST(NM_001374736.1):c.9046T>C (p.L3016=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929211" "0" "30" "6" "56473733" "56473733" "subst" "0" "02326" "DST_000357" "g.56473733T>G" "" "" "" "DST(NM_001374736.1):c.5693A>C (p.Q1898P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929212" "0" "30" "6" "56481060" "56481060" "subst" "0.000800969" "02326" "DST_000358" "g.56481060T>C" "" "" "" "DST(NM_001723.6):c.7205A>G (p.N2402S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56616262T>C" "" "likely benign" "" "0000929213" "0" "30" "6" "56483737" "56483737" "subst" "0.000390542" "02325" "DST_000015" "g.56483737C>T" "" "" "" "DST(NM_001723.6):c.5095G>A (p.E1699K), DST(NM_001723.7):c.5095G>A (p.E1699K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618939C>T" "" "likely benign" "" "0000929214" "0" "30" "6" "56496674" "56496674" "subst" "4.87516E-5" "02330" "DST_000359" "g.56496674C>T" "" "" "" "DST(NM_001144769.5):c.3864+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56631876C>T" "" "likely benign" "" "0000929215" "0" "30" "6" "56497635" "56497635" "subst" "4.07375E-6" "02330" "DST_000360" "g.56497635G>A" "" "" "" "DST(NM_001374736.1):c.3805+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56632837G>A" "" "likely benign" "" "0000929216" "0" "30" "6" "56510720" "56510720" "subst" "0.000260048" "02326" "DST_000361" "g.56510720C>T" "" "" "" "DST(NM_001374736.1):c.1722G>A (p.G574=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948721" "0" "50" "6" "56371270" "56371270" "subst" "0" "02330" "DST_000362" "g.56371270C>T" "" "" "" "DST(NM_001374736.1):c.19435G>A (p.A6479T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948722" "0" "30" "6" "56380482" "56380482" "subst" "0.00167143" "02326" "DST_000363" "g.56380482A>G" "" "" "" "DST(NM_001374736.1):c.18358-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948723" "0" "30" "6" "56458728" "56458728" "subst" "0" "02330" "DST_000364" "g.56458728T>C" "" "" "" "DST(NM_001374736.1):c.12459A>G (p.S4153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948724" "0" "50" "6" "56458880" "56458880" "subst" "1.2332E-5" "02330" "DST_000365" "g.56458880T>C" "" "" "" "DST(NM_001374736.1):c.12307A>G (p.K4103E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948725" "0" "30" "6" "56462690" "56462690" "subst" "0.000820825" "02326" "DST_000151" "g.56462690T>A" "" "" "" "DST(NM_001144769.2):c.5686A>T (p.I1896F), DST(NM_001144769.5):c.5686A>T (p.I1896F), DST(NM_001374736.1):c.12043A>T (p.I4015F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948726" "0" "10" "6" "56468625" "56468625" "subst" "0" "02330" "DST_000366" "g.56468625G>A" "" "" "" "DST(NM_001374736.1):c.10791+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948727" "0" "10" "6" "56468983" "56468983" "subst" "0" "02330" "DST_000367" "g.56468983C>T" "" "" "" "DST(NM_001374736.1):c.10443G>A (p.T3481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948728" "0" "10" "6" "56470098" "56470098" "subst" "0" "02330" "DST_000368" "g.56470098T>G" "" "" "" "DST(NM_001374736.1):c.9328A>C (p.K3110Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948729" "0" "10" "6" "56471086" "56471086" "subst" "0" "02330" "DST_000342" "g.56471086G>A" "" "" "" "DST(NM_001374736.1):c.8340C>T (p.S2780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948730" "0" "10" "6" "56471798" "56471798" "subst" "0" "02330" "DST_000369" "g.56471798T>C" "" "" "" "DST(NM_001374736.1):c.7628A>G (p.Q2543R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948731" "0" "50" "6" "56473568" "56473568" "subst" "0" "02330" "DST_000370" "g.56473568G>A" "" "" "" "DST(NM_001374736.1):c.5858C>T (p.P1953L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948732" "0" "10" "6" "56473590" "56473590" "subst" "0" "02330" "DST_000371" "g.56473590T>A" "" "" "" "DST(NM_001374736.1):c.5836A>T (p.M1946L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948733" "0" "30" "6" "56504041" "56504041" "subst" "3.66838E-5" "02330" "DST_000372" "g.56504041C>T" "" "" "" "DST(NM_001374736.1):c.2964+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56639243C>T" "" "likely benign" "" "0000948734" "0" "50" "6" "56504402" "56504402" "subst" "0.00116692" "02325" "DST_000037" "g.56504402G>C" "" "" "" "DST(NM_001144769.2):c.2606C>G (p.S869C), DST(NM_001144769.5):c.2606C>G (p.S869C), DST(NM_001374736.1):c.2705C>G (p.(Ser902Cys), p.S902C), DST(NM_0...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56639604G>C" "" "VUS" "" "0000964184" "0" "30" "6" "56468021" "56468021" "subst" "0" "02326" "DST_000373" "g.56468021A>C" "" "" "" "DST(NM_001374736.1):c.11139T>G (p.L3713=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964185" "0" "30" "6" "56469588" "56469588" "subst" "0" "02330" "DST_000374" "g.56469588C>T" "" "" "" "DST(NM_001374736.1):c.9838G>A (p.V3280I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977307" "0" "50" "6" "56366402" "56366402" "subst" "0.000181473" "01804" "DST_000083" "g.56366402C>G" "" "" "" "DST(NM_001144769.5):c.13299G>C (p.E4433D), DST(NM_001374736.1):c.19656G>C (p.(Glu6552Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977308" "0" "50" "6" "56462768" "56462768" "subst" "2.45431E-5" "01804" "DST_000375" "g.56462768T>C" "" "" "" "DST(NM_001374736.1):c.11965A>G (p.(Lys3989Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977309" "0" "50" "6" "56480816" "56480816" "subst" "8.13829E-5" "01804" "DST_000376" "g.56480816T>C" "" "" "" "DST(NM_001723.7):c.7449A>G (p.(Gln2483=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56616018T>C" "" "VUS" "" "0000977310" "0" "30" "6" "56481158" "56481158" "subst" "0" "02326" "DST_000377" "g.56481158A>C" "" "" "" "DST(NM_001723.6):c.7107T>G (p.L2369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56616360A>C" "" "likely benign" "" "0000995822" "0" "30" "6" "56366370" "56366370" "subst" "0" "01804" "DST_000378" "g.56366370A>G" "" "" "" "DST(NM_015548.4):c.11819T>C (p.(Met3940Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995823" "0" "50" "6" "56368824" "56368824" "subst" "0" "01804" "DST_000379" "g.56368824T>C" "" "" "" "DST(NM_001144769.2):c.13180A>G (p.(Lys4394Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995824" "0" "50" "6" "56368877" "56368877" "subst" "0" "01804" "DST_000380" "g.56368877T>G" "" "" "" "DST(NM_001144769.2):c.13127A>C (p.(Asn4376Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995825" "0" "30" "6" "56374514" "56374514" "subst" "6.10391E-5" "01804" "DST_000091" "g.56374514T>C" "" "" "" "DST(NM_001144769.5):c.12581A>G (p.Y4194C), DST(NM_015548.4):c.11069A>G (p.(Tyr3690Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995826" "0" "30" "6" "56382335" "56382335" "subst" "0.000106521" "01804" "DST_000381" "g.56382335C>A" "" "" "" "DST(NM_015548.4):c.10344G>T (p.(Glu3448Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995827" "0" "30" "6" "56394463" "56394463" "subst" "2.43926E-5" "01804" "DST_000382" "g.56394463C>T" "" "" "" "DST(NM_015548.4):c.9509G>A (p.(Ser3170Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995828" "0" "30" "6" "56417095" "56417095" "subst" "0.00108902" "02326" "DST_000336" "g.56417095T>A" "" "" "" "DST(NM_001144769.5):c.10138A>T (p.S3380C), DST(NM_001374736.1):c.16495A>T (p.S5499C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995829" "0" "50" "6" "56417556" "56417556" "subst" "2.05758E-5" "01804" "DST_000383" "g.56417556T>C" "" "" "" "DST(NM_015548.4):c.8165A>G (p.(Asp2722Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995830" "0" "30" "6" "56418103" "56418103" "subst" "0" "01804" "DST_000384" "g.56418103C>T" "" "" "" "DST(NM_001144769.2):c.9130G>A (p.(Val3044Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995831" "0" "30" "6" "56466279" "56466279" "subst" "0" "02330" "DST_000341" "g.56466279T>C" "" "" "" "DST(NM_001374736.1):c.11503A>G (p.T3835A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995832" "0" "30" "6" "56468206" "56468206" "subst" "0" "02330" "DST_000385" "g.56468206C>T" "" "" "" "DST(NM_001374736.1):c.10954G>A (p.G3652R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995833" "0" "30" "6" "56469602" "56469602" "subst" "0" "02330" "DST_000386" "g.56469602A>G" "" "" "" "DST(NM_001374736.1):c.9824T>C (p.L3275S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995834" "0" "70" "6" "56483278" "56483278" "subst" "0" "01804" "DST_000387" "g.56483278G>A" "" "" "" "DST(NM_001723.5):c.5554C>T (p.(Gln1852*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618480G>A" "" "likely pathogenic" "" "0000995835" "0" "90" "6" "56483797" "56483797" "subst" "1.21993E-5" "02325" "DST_000016" "g.56483797T>A" "" "" "" "DST(NM_001723.5):c.5035A>T (p.K1679*), DST(NM_001723.7):c.5035A>T (p.K1679*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618999T>A" "" "pathogenic" "" "0000995836" "0" "10" "6" "56483819" "56483819" "subst" "4.06623E-6" "01804" "DST_000388" "g.56483819G>T" "" "" "" "DST(NM_001723.5):c.5013C>A (p.(Asn1671Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56619021G>T" "" "benign" "" "0000995837" "0" "30" "6" "56484103" "56484103" "subst" "0.000118612" "01804" "DST_000182" "g.56484103C>T" "" "" "" "DST(NM_001723.5):c.4729G>A (p.(Glu1577Lys)), DST(NM_001723.7):c.4729G>A (p.E1577K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56619305C>T" "" "likely benign" "" "0000995838" "0" "30" "6" "56484984" "56484984" "subst" "8.14253E-6" "01804" "DST_000329" "g.56484984T>C" "" "" "" "DST(NM_001723.5):c.3848A>G (p.N1283S, p.(Asn1283Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56620186T>C" "" "likely benign" "" "0000995839" "0" "10" "6" "56485242" "56485242" "subst" "6.10232E-5" "01804" "DST_000389" "g.56485242C>T" "" "" "" "DST(NM_001723.5):c.3590G>A (p.(Arg1197His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56620444C>T" "" "benign" "" "0000995840" "0" "30" "6" "56485243" "56485243" "subst" "7.32416E-5" "01804" "DST_000390" "g.56485243G>A" "" "" "" "DST(NM_001723.5):c.3589C>T (p.(Arg1197Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56620445G>A" "" "likely benign" "" "0000995841" "0" "50" "6" "56501428" "56501428" "subst" "1.21976E-5" "01804" "DST_000391" "g.56501428G>A" "" "" "" "DST(NM_001723.5):c.1376C>T (p.(Thr459Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56636630G>A" "" "VUS" "" "0000995842" "0" "30" "6" "56505161" "56505161" "subst" "4.06217E-6" "01804" "DST_000392" "g.56505161C>A" "" "" "" "DST(NM_001723.5):c.659G>T (p.(Arg220Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56640363C>A" "" "likely benign" "" "0000995843" "0" "30" "6" "56716410" "56716410" "subst" "0.000176296" "02326" "DST_000217" "g.56716410G>T" "" "" "" "DST(NM_001144769.5):c.418-8C>A, DST(NM_001374736.1):c.418-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014228" "0" "50" "6" "56457023" "56457023" "subst" "4.0796E-5" "02325" "DST_000145" "g.56457023G>A" "" "" "" "DST(NM_001144769.2):c.6503C>T (p.A2168V), DST(NM_001374736.1):c.12860C>T (p.A4287V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014229" "0" "10" "6" "56472919" "56472919" "subst" "0" "02330" "DST_000393" "g.56472919T>C" "" "" "" "DST(NM_001374736.1):c.6507A>G (p.Q2169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025246" "0" "30" "6" "56420624" "56420624" "subst" "0" "02330" "DST_000394" "g.56420624T>C" "" "" "" "DST(NM_001374736.1):c.14655A>G (p.E4885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025247" "0" "50" "6" "56482902" "56482902" "subst" "0.000418665" "02325" "DST_000174" "g.56482902G>C" "" "" "" "DST(NM_001723.5):c.5930C>G (p.T1977R), DST(NM_001723.7):c.5930C>G (p.T1977R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56618104G>C" "" "VUS" "" "0001025248" "0" "50" "6" "56500452" "56500452" "subst" "8.14306E-6" "02325" "DST_000395" "g.56500452G>A" "" "" "" "DST(NM_001723.7):c.1510C>T (p.R504W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56635654G>A" "" "VUS" "" "0001035853" "0" "30" "6" "56323854" "56323854" "subst" "0.000284884" "02326" "DST_000053" "g.56323854C>T" "" "" "" "DST(NM_001144769.5):c.16977G>A (p.T5659=), DST(NM_001374736.1):c.23406G>A (p.T7802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035854" "0" "50" "6" "56426182" "56426182" "subst" "6.09994E-5" "01804" "DST_000225" "g.56426182T>C" "" "" "" "DST(NM_001144769.5):c.7877A>G (p.K2626R), DST(NM_001374736.1):c.14234A>G (p.(Lys4745Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035855" "0" "30" "6" "56437826" "56437826" "subst" "0.000210093" "02327" "DST_000141" "g.56437826T>C" "" "" "" "DST(NM_001144769.2):c.6916A>G (p.I2306V), DST(NM_001144769.5):c.6916A>G (p.I2306V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035856" "0" "30" "6" "56463371" "56463371" "subst" "0.000297911" "01804" "DST_000396" "g.56463371G>T" "" "" "" "DST(NM_001374736.1):c.11831C>A (p.(Ala3944Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035858" "0" "50" "6" "56471668" "56471668" "subst" "0" "01804" "DST_000397" "g.56471668A>C" "" "" "" "DST(NM_001374736.1):c.7758T>G (p.(Ser2586Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035859" "0" "50" "6" "56472185" "56472185" "subst" "0" "01804" "DST_000398" "g.56472185T>C" "" "" "" "DST(NM_001374736.1):c.7241A>G (p.(Asn2414Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035860" "0" "30" "6" "56485517" "56485517" "subst" "0.00035267" "01804" "DST_000399" "g.56485517C>T" "" "" "" "DST(NM_001723.7):c.3319-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56620719C>T" "" "likely benign" "" "0001035861" "0" "30" "6" "56489429" "56489429" "subst" "0.00224366" "01804" "DST_000290" "g.56489429G>T" "" "" "" "DST(NM_001144769.5):c.4732-3C>A, DST(NM_001374736.1):c.4831-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56624631G>T" "" "likely benign" "" "0001035862" "0" "50" "6" "56504812" "56504812" "subst" "4.47056E-5" "01804" "DST_000400" "g.56504812A>C" "" "" "" "DST(NM_001374736.1):c.2534T>G (p.(Val845Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56640014A>C" "" "VUS" "" "0001035863" "0" "50" "6" "56716212" "56716212" "subst" "0" "02325" "DST_000401" "g.56716212G>A" "" "" "" "DST(NM_001374736.1):c.608C>T (p.A203V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046072" "0" "30" "6" "56479215" "56479215" "subst" "0.00108546" "02326" "DST_000164" "g.56479215T>A" "" "" "" "DST(NM_001144769.2):c.4898A>T (p.N1633I), DST(NM_001144769.5):c.4898A>T (p.N1633I), DST(NM_001374736.1):c.4997A>T (p.N1666I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046073" "0" "30" "6" "56504402" "56504402" "subst" "0.00116692" "02326" "DST_000037" "g.56504402G>C" "" "" "" "DST(NM_001144769.2):c.2606C>G (p.S869C), DST(NM_001144769.5):c.2606C>G (p.S869C), DST(NM_001374736.1):c.2705C>G (p.(Ser902Cys), p.S902C), DST(NM_0...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56639604G>C" "" "likely benign" "" "0001046074" "0" "90" "6" "56507523" "56507523" "subst" "2.84879E-5" "02325" "DST_000402" "g.56507523G>A" "" "" "" "DST(NM_001723.7):c.64C>T (p.R22*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56642725G>A" "" "pathogenic" "" "0001052401" "0" "50" "6" "56458969" "56458969" "subst" "0" "01804" "DST_000403" "g.56458969G>A" "" "" "" "DST(NM_001374736.1):c.12218C>T (p.(Ser4073Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052402" "0" "50" "6" "56473526" "56473526" "subst" "0" "01804" "DST_000404" "g.56473526A>T" "" "" "" "DST(NM_001374736.1):c.5900T>A (p.(Ile1967Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064566" "0" "50" "6" "56330953" "56330953" "subst" "0" "02325" "DST_000405" "g.56330953C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064567" "0" "50" "6" "56391365" "56391365" "subst" "1.63157E-5" "02325" "DST_000406" "g.56391365C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064568" "0" "50" "6" "56482786" "56482787" "dup" "0" "02325" "DST_000407" "g.56482786_56482787dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56617988_56617989dup" "" "VUS" "" "0001068637" "1" "10" "6" "56434712" "56434712" "subst" "0.00695819" "00006" "DST_000135" "g.56434712G>T" "" "{PMID:Estevez-Arias 2025:39333429}" "" "NM_001374736.1:c.13820C>A" "ACMG PP2, BA1, BS2, BP6" "Germline" "" "" "0" "" "" "g.56569914G>T" "" "benign" "" "0001068650" "0" "30" "6" "56472760" "56472760" "subst" "0" "00006" "DST_000408" "g.56472760G>A" "" "{PMID:Estevez-Arias 2025:39333429}" "" "NM_001374736.1:c.6666C>T" "ACMG BP7, BP6" "Germline" "" "" "0" "" "" "g.56607962G>A" "" "likely benign" "" "0001068651" "0" "50" "6" "56510943" "56510943" "subst" "6.99472E-5" "00006" "DST_000050" "g.56510943T>G" "" "{PMID:Estevez-Arias 2025:39333429}" "" "NM_001374736.1:c.1592A>C" "ACMG PM2, PP2" "Germline" "" "" "0" "" "" "g.56646145T>G" "" "VUS" "" "0001069448" "3" "50" "6" "56564474" "56564474" "subst" "0" "00006" "DST_000409" "g.56564474A>G" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.56699676A>G" "SCV006074886" "VUS" "ACMG" ## 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 DST ## Count = 739 "{{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}}" "0000246439" "00006723" "50" "69984" "0" "69984" "0" "c.*62034T>A" "r.(=)" "p.(=)" "" "0000246458" "00006723" "10" "153318" "0" "153318" "0" "c.*145368T>C" "r.(=)" "p.(=)" "" "0000246459" "00006723" "10" "97082" "0" "97082" "0" "c.*89132T>C" "r.(=)" "p.(=)" "" "0000246460" "00006723" "10" "2841" "0" "2841" "0" "c.2841T>C" "r.(?)" "p.(Asn947=)" "" "0000246460" "00026049" "10" "4452" "0" "4452" "0" "c.4452T>C" "r.(?)" "p.(Asn1484=)" "" "0000246461" "00006723" "10" "757" "0" "757" "0" "c.757T>C" "r.(?)" "p.(Leu253=)" "" "0000246461" "00026049" "10" "2368" "0" "2368" "0" "c.2368T>C" "r.(?)" "p.(Leu790=)" "" "0000246462" "00006723" "10" "-61518" "0" "-61518" "0" "c.-61518T>C" "r.(?)" "p.(=)" "" "0000246473" "00006723" "10" "98" "0" "98" "0" "c.98T>C" "r.(?)" "p.(Leu33Ser)" "" "0000246473" "00026049" "10" "1779" "-188" "1779" "-188" "c.1779-188T>C" "r.(?)" "p.(=)" "" "0000246475" "00006723" "10" "2979" "0" "2979" "0" "c.2979T>G" "r.(?)" "p.(Asn993Lys)" "" "0000246475" "00026049" "10" "4590" "0" "4590" "0" "c.4590T>G" "r.(?)" "p.(Asn1530Lys)" "" "0000246497" "00006723" "10" "61261" "0" "61261" "0" "c.*53311T>C" "r.(=)" "p.(=)" "" "0000246519" "00006723" "30" "51244" "0" "51244" "0" "c.*43294T>C" "r.(=)" "p.(=)" "" "0000254484" "00006723" "30" "1989" "0" "1989" "0" "c.1989T>C" "r.(?)" "p.(Ile663=)" "" "0000254484" "00026049" "30" "3600" "0" "3600" "0" "c.3600T>C" "r.(?)" "p.(Ile1200=)" "" "0000254489" "00006723" "30" "3608" "0" "3608" "0" "c.3608T>C" "r.(?)" "p.(Ile1203Thr)" "" "0000254489" "00026049" "30" "4929" "4104" "4929" "4104" "c.4929+4104T>C" "r.(?)" "p.(=)" "" "0000254566" "00006723" "30" "377" "0" "377" "0" "c.377T>C" "r.(?)" "p.(Ile126Thr)" "" "0000254566" "00026049" "30" "1988" "0" "1988" "0" "c.1988T>C" "r.(?)" "p.(Ile663Thr)" "" "0000254659" "00006723" "30" "3295" "0" "3295" "0" "c.3295T>C" "r.(?)" "p.(Leu1099=)" "" "0000254659" "00026049" "30" "4906" "0" "4906" "0" "c.4906T>C" "r.(?)" "p.(Leu1636=)" "" "0000255096" "00006723" "30" "159839" "0" "159839" "0" "c.*151889T>C" "r.(=)" "p.(=)" "" "0000255811" "00006723" "50" "69984" "0" "69984" "0" "c.*62034T>A" "r.(=)" "p.(=)" "" "0000265643" "00006723" "30" "-18" "0" "-16" "0" "c.-18_-16del" "r.(?)" "p.(=)" "" "0000265643" "00026049" "30" "1779" "-303" "1779" "-301" "c.1779-303_1779-301del" "r.(?)" "p.(=)" "" "0000265644" "00006723" "30" "-200360" "0" "-200360" "0" "c.-200360G>C" "r.(?)" "p.(=)" "" "0000265646" "00006723" "10" "91045" "0" "91045" "0" "c.*83095C>T" "r.(=)" "p.(=)" "" "0000265647" "00006723" "50" "93357" "0" "93357" "0" "c.*85407C>T" "r.(=)" "p.(=)" "" "0000265648" "00006723" "50" "95816" "0" "95816" "0" "c.*87866G>A" "r.(=)" "p.(=)" "" "0000265649" "00006723" "10" "96890" "0" "96890" "0" "c.*88940A>G" "r.(=)" "p.(=)" "" "0000265650" "00006723" "50" "97024" "0" "97024" "0" "c.*89074A>G" "r.(=)" "p.(=)" "" "0000265651" "00006723" "10" "112174" "0" "112174" "0" "c.*104224G>A" "r.(=)" "p.(=)" "" "0000265652" "00006723" "10" "114729" "0" "114729" "0" "c.*106779G>A" "r.(=)" "p.(=)" "" "0000265653" "00006723" "10" "-8201" "0" "-8201" "0" "c.-8201C>T" "r.(?)" "p.(=)" "" "0000265654" "00006723" "50" "130421" "0" "130421" "0" "c.*122471A>G" "r.(=)" "p.(=)" "" "0000265655" "00006723" "10" "136292" "0" "136292" "0" "c.*128342C>T" "r.(=)" "p.(=)" "" "0000265656" "00006723" "10" "136313" "0" "136313" "0" "c.*128363G>A" "r.(=)" "p.(=)" "" "0000265659" "00006723" "10" "141278" "0" "141279" "0" "c.*133328_*133329del" "r.(=)" "p.(=)" "" "0000265660" "00006723" "10" "146129" "0" "146129" "0" "c.*138179G>A" "r.(=)" "p.(=)" "" "0000265661" "00006723" "30" "151227" "0" "151227" "0" "c.*143277G>C" "r.(=)" "p.(=)" "" "0000265662" "00006723" "50" "151383" "0" "151383" "0" "c.*143433A>G" "r.(=)" "p.(=)" "" "0000265663" "00006723" "10" "160409" "0" "160409" "0" "c.*152459G>A" "r.(=)" "p.(=)" "" "0000265664" "00006723" "10" "160416" "0" "160416" "0" "c.*152466G>A" "r.(=)" "p.(=)" "" "0000265665" "00006723" "10" "164411" "0" "164411" "0" "c.*156461G>A" "r.(=)" "p.(=)" "" "0000265666" "00006723" "30" "-311610" "0" "-311610" "0" "c.-311610C>A" "r.(?)" "p.(=)" "" "0000265667" "00006723" "30" "-311036" "0" "-311036" "0" "c.-311036C>T" "r.(?)" "p.(=)" "" "0000265668" "00006723" "50" "514" "0" "514" "0" "c.514A>G" "r.(?)" "p.(Met172Val)" "" "0000265668" "00026049" "50" "2125" "0" "2125" "0" "c.2125A>G" "r.(?)" "p.(Met709Val)" "" "0000265669" "00006723" "10" "645" "0" "645" "0" "c.645A>T" "r.(?)" "p.(Ser215=)" "" "0000265669" "00026049" "10" "2256" "0" "2256" "0" "c.2256A>T" "r.(?)" "p.(Ser752=)" "" "0000265670" "00006723" "30" "739" "0" "739" "0" "c.739C>G" "r.(?)" "p.(Pro247Ala)" "" "0000265670" "00026049" "30" "2350" "0" "2350" "0" "c.2350C>G" "r.(?)" "p.(Pro784Ala)" "" "0000265671" "00006723" "50" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298His)" "" "0000265671" "00026049" "50" "2504" "0" "2504" "0" "c.2504G>A" "r.(?)" "p.(Arg835His)" "" "0000265672" "00006723" "30" "-257792" "0" "-257792" "0" "c.-257792A>G" "r.(?)" "p.(=)" "" "0000265673" "00006723" "50" "1090" "0" "1090" "0" "c.1090A>G" "r.(?)" "p.(Thr364Ala)" "" "0000265673" "00026049" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "" "0000265674" "00006723" "50" "1340" "0" "1340" "0" "c.1340G>T" "r.(?)" "p.(Arg447Leu)" "" "0000265674" "00026049" "50" "2951" "0" "2951" "0" "c.2951G>T" "r.(?)" "p.(Arg984Leu)" "" "0000265675" "00006723" "10" "1515" "0" "1515" "0" "c.1515G>A" "r.(?)" "p.(Lys505=)" "" "0000265675" "00026049" "10" "3126" "0" "3126" "0" "c.3126G>A" "r.(?)" "p.(Lys1042=)" "" "0000265676" "00006723" "50" "3436" "0" "3436" "0" "c.3436A>G" "r.(?)" "p.(Met1146Val)" "" "0000265676" "00026049" "50" "4929" "3932" "4929" "3932" "c.4929+3932A>G" "r.(?)" "p.(=)" "" "0000265677" "00006723" "10" "1953" "0" "1953" "0" "c.1953A>G" "r.(?)" "p.(Val651=)" "" "0000265677" "00026049" "10" "3564" "0" "3564" "0" "c.3564A>G" "r.(?)" "p.(Val1188=)" "" "0000265678" "00006723" "10" "3809" "0" "3809" "0" "c.3809A>G" "r.(?)" "p.(Lys1270Arg)" "" "0000265678" "00026049" "10" "4929" "4305" "4929" "4305" "c.4929+4305A>G" "r.(?)" "p.(=)" "" "0000265679" "00006723" "10" "2532" "-15" "2532" "-15" "c.2532-15A>G" "r.(=)" "p.(=)" "" "0000265679" "00026049" "10" "4143" "-15" "4143" "-15" "c.4143-15A>G" "r.(?)" "p.?" "" "0000265680" "00006723" "10" "4074" "0" "4074" "0" "c.4074G>A" "r.(?)" "p.(Lys1358=)" "" "0000265680" "00026049" "10" "4929" "4570" "4929" "4570" "c.4929+4570G>A" "r.(?)" "p.(=)" "" "0000265681" "00006723" "50" "9038" "0" "9038" "0" "c.*1088A>C" "r.(=)" "p.(=)" "" "0000265682" "00006723" "50" "5035" "0" "5035" "0" "c.5035A>T" "r.(?)" "p.(Lys1679Ter)" "" "0000265682" "00026049" "50" "4930" "-4515" "4930" "-4515" "c.4930-4515A>T" "r.(?)" "p.(=)" "" "0000265683" "00006723" "50" "5095" "0" "5095" "0" "c.5095G>A" "r.(?)" "p.(Glu1699Lys)" "" "0000265683" "00026049" "50" "4930" "-4455" "4930" "-4455" "c.4930-4455G>A" "r.(?)" "p.(=)" "" "0000265684" "00006723" "10" "24855" "0" "24855" "0" "c.*16905A>G" "r.(=)" "p.(=)" "" "0000265685" "00006723" "10" "5838" "0" "5838" "0" "c.5838C>T" "r.(?)" "p.(Leu1946=)" "" "0000265685" "00026049" "10" "4930" "-3712" "4930" "-3712" "c.4930-3712C>T" "r.(?)" "p.(=)" "" "0000265686" "00006723" "30" "5892" "0" "5892" "0" "c.5892C>T" "r.(?)" "p.(Thr1964=)" "" "0000265686" "00026049" "30" "4930" "-3658" "4930" "-3658" "c.4930-3658C>T" "r.(?)" "p.(=)" "" "0000265687" "00006723" "10" "6031" "0" "6031" "0" "c.6031G>C" "r.(?)" "p.(Val2011Leu)" "" "0000265687" "00026049" "10" "4930" "-3519" "4930" "-3519" "c.4930-3519G>C" "r.(?)" "p.(=)" "" "0000265688" "00006723" "30" "-311740" "0" "-311740" "0" "c.-311740C>G" "r.(?)" "p.(=)" "" "0000265689" "00006723" "10" "6633" "0" "6633" "0" "c.6633A>G" "r.(?)" "p.(Ala2211=)" "" "0000265689" "00026049" "10" "4930" "-2350" "4930" "-2350" "c.4930-2350A>G" "r.(?)" "p.(=)" "" "0000265690" "00006723" "10" "49650" "0" "49650" "0" "c.*41700C>T" "r.(=)" "p.(=)" "" "0000265691" "00006723" "50" "-92450" "0" "-92450" "0" "c.-92450A>G" "r.(?)" "p.(=)" "" "0000265692" "00006723" "10" "51184" "0" "51184" "0" "c.*43234A>G" "r.(=)" "p.(=)" "" "0000265693" "00006723" "50" "53546" "0" "53546" "0" "c.*45596A>G" "r.(=)" "p.(=)" "" "0000265694" "00006723" "10" "53553" "0" "53553" "0" "c.*45603C>A" "r.(=)" "p.(=)" "" "0000265695" "00006723" "30" "7557" "0" "7557" "0" "c.7557G>A" "r.(?)" "p.(Gln2519=)" "" "0000265695" "00026049" "30" "4930" "-1426" "4930" "-1426" "c.4930-1426G>A" "r.(?)" "p.(=)" "" "0000265696" "00006723" "10" "61334" "0" "61334" "0" "c.*53384G>A" "r.(=)" "p.(=)" "" "0000265697" "00006723" "10" "7765" "0" "7765" "0" "c.7765A>G" "r.(?)" "p.(Ile2589Val)" "" "0000265697" "00026049" "10" "4930" "-1218" "4930" "-1218" "c.4930-1218A>G" "r.(?)" "p.(=)" "" "0000265698" "00006723" "10" "65942" "0" "65942" "0" "c.*57992del" "r.(?)" "p.(=)" "" "0000265699" "00006723" "10" "67727" "0" "67727" "0" "c.*59777G>A" "r.(=)" "p.(=)" "" "0000265700" "00006723" "50" "67834" "0" "67834" "0" "c.*59884A>G" "r.(=)" "p.(=)" "" "0000265701" "00006723" "10" "68107" "0" "68107" "0" "c.*60157G>A" "r.(=)" "p.(=)" "" "0000265702" "00006723" "50" "70577" "0" "70577" "0" "c.*62627C>T" "r.(=)" "p.(=)" "" "0000265703" "00006723" "10" "70720" "0" "70720" "0" "c.*62770A>G" "r.(=)" "p.(=)" "" "0000265704" "00006723" "10" "70983" "0" "70983" "0" "c.*63033G>A" "r.(=)" "p.(=)" "" "0000267665" "00006723" "30" "739" "0" "739" "0" "c.739C>G" "r.(?)" "p.(Pro247Ala)" "" "0000267665" "00026049" "30" "2350" "0" "2350" "0" "c.2350C>G" "r.(?)" "p.(Pro784Ala)" "" "0000267666" "00006723" "50" "944" "0" "944" "0" "c.944A>G" "r.(?)" "p.(His315Arg)" "" "0000267666" "00026049" "50" "2555" "0" "2555" "0" "c.2555A>G" "r.(?)" "p.(His852Arg)" "" "0000267667" "00006723" "10" "4074" "0" "4074" "0" "c.4074G>A" "r.(?)" "p.(Lys1358=)" "" "0000267667" "00026049" "10" "4929" "4570" "4929" "4570" "c.4929+4570G>A" "r.(?)" "p.(=)" "" "0000267668" "00006723" "90" "4978" "0" "4978" "0" "c.4978del" "r.(?)" "p.(Val1660Ter)" "" "0000267668" "00026049" "90" "4930" "-4572" "4930" "-4572" "c.4930-4572del" "r.(?)" "p.(=)" "" "0000267669" "00006723" "10" "16270" "0" "16270" "0" "c.*8320G>A" "r.(=)" "p.(=)" "" "0000267670" "00006723" "10" "16863" "0" "16863" "0" "c.*8913C>T" "r.(=)" "p.(=)" "" "0000267671" "00006723" "10" "17575" "0" "17575" "0" "c.*9625C>T" "r.(=)" "p.(=)" "" "0000267672" "00006723" "10" "20027" "0" "20027" "0" "c.*12077C>T" "r.(=)" "p.(=)" "" "0000267673" "00006723" "10" "24855" "0" "24855" "0" "c.*16905A>G" "r.(=)" "p.(=)" "" "0000267674" "00006723" "10" "6031" "0" "6031" "0" "c.6031G>C" "r.(?)" "p.(Val2011Leu)" "" "0000267674" "00026049" "10" "4930" "-3519" "4930" "-3519" "c.4930-3519G>C" "r.(?)" "p.(=)" "" "0000267675" "00006723" "90" "6298" "0" "6298" "0" "c.6298C>T" "r.(?)" "p.(Gln2100Ter)" "" "0000267675" "00026049" "90" "4930" "-2685" "4930" "-2685" "c.4930-2685C>T" "r.(?)" "p.(=)" "" "0000267676" "00006723" "50" "31251" "0" "31251" "0" "c.*23301C>T" "r.(=)" "p.(=)" "" "0000267677" "00006723" "90" "6559" "0" "6559" "0" "c.6559C>T" "r.(?)" "p.(Gln2187Ter)" "" "0000267677" "00026049" "90" "4930" "-2424" "4930" "-2424" "c.4930-2424C>T" "r.(?)" "p.(=)" "" "0000267678" "00006723" "10" "61334" "0" "61334" "0" "c.*53384G>A" "r.(=)" "p.(=)" "" "0000267679" "00006723" "10" "70720" "0" "70720" "0" "c.*62770A>G" "r.(=)" "p.(=)" "" "0000267680" "00006723" "10" "70983" "0" "70983" "0" "c.*63033G>A" "r.(=)" "p.(=)" "" "0000268759" "00006723" "90" "3370" "0" "3370" "0" "c.3370C>T" "r.(?)" "p.(Gln1124Ter)" "" "0000268759" "00026049" "90" "4929" "3866" "4929" "3866" "c.4929+3866C>T" "r.(?)" "p.(=)" "" "0000275717" "00006723" "30" "90992" "0" "90992" "0" "c.*83042G>A" "r.(=)" "p.(=)" "" "0000275718" "00006723" "50" "97024" "0" "97024" "0" "c.*89074A>G" "r.(=)" "p.(=)" "" "0000275719" "00006723" "50" "130421" "0" "130421" "0" "c.*122471A>G" "r.(=)" "p.(=)" "" "0000275720" "00006723" "10" "136313" "0" "136313" "0" "c.*128363G>A" "r.(=)" "p.(=)" "" "0000275721" "00006723" "50" "149543" "0" "149543" "0" "c.*141593C>T" "r.(=)" "p.(=)" "" "0000275722" "00006723" "30" "151369" "0" "151369" "0" "c.*143419A>G" "r.(=)" "p.(=)" "" "0000275723" "00006723" "50" "160336" "0" "160336" "0" "c.*152386A>G" "r.(=)" "p.(=)" "" "0000275724" "00006723" "30" "645" "0" "645" "0" "c.645A>T" "r.(?)" "p.(Ser215=)" "" "0000275724" "00026049" "30" "2256" "0" "2256" "0" "c.2256A>T" "r.(?)" "p.(Ser752=)" "" "0000275725" "00006723" "10" "909" "0" "909" "0" "c.909A>C" "r.(?)" "p.(Ser303=)" "" "0000275725" "00026049" "10" "2520" "0" "2520" "0" "c.2520A>C" "r.(?)" "p.(Ser840=)" "" "0000275726" "00006723" "50" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(Arg9Cys)" "" "0000275726" "00026049" "50" "1779" "-261" "1779" "-261" "c.1779-261C>T" "r.(?)" "p.(=)" "" "0000275727" "00006723" "50" "1094" "0" "1094" "0" "c.1094C>G" "r.(?)" "p.(Ser365Cys)" "" "0000275727" "00026049" "50" "2705" "0" "2705" "0" "c.2705C>G" "r.(?)" "p.(Ser902Cys)" "" "0000275728" "00006723" "30" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Arg447Trp)" "" "0000275728" "00026049" "30" "2950" "0" "2950" "0" "c.2950C>T" "r.(?)" "p.(Arg984Trp)" "" "0000275729" "00006723" "30" "1365" "0" "1365" "0" "c.1365G>A" "r.(?)" "p.(Ala455=)" "" "0000275729" "00026049" "30" "2976" "0" "2976" "0" "c.2976G>A" "r.(?)" "p.(Ala992=)" "" "0000275730" "00006723" "10" "1946" "0" "1946" "0" "c.1946G>A" "r.(?)" "p.(Ser649Asn)" "" "0000275730" "00026049" "10" "3557" "0" "3557" "0" "c.3557G>A" "r.(?)" "p.(Ser1186Asn)" "" "0000275731" "00006723" "30" "3809" "0" "3809" "0" "c.3809A>G" "r.(?)" "p.(Lys1270Arg)" "" "0000275731" "00026049" "30" "4929" "4305" "4929" "4305" "c.4929+4305A>G" "r.(?)" "p.(=)" "" "0000275732" "00006723" "30" "3943" "0" "3943" "0" "c.3943A>G" "r.(?)" "p.(Ile1315Val)" "" "0000275732" "00026049" "30" "4929" "4439" "4929" "4439" "c.4929+4439A>G" "r.(?)" "p.(=)" "" "0000275733" "00006723" "30" "4049" "0" "4049" "0" "c.4049C>T" "r.(?)" "p.(Thr1350Met)" "" "0000275733" "00026049" "30" "4929" "4545" "4929" "4545" "c.4929+4545C>T" "r.(?)" "p.(=)" "" "0000275734" "00006723" "30" "9036" "0" "9036" "0" "c.*1086A>G" "r.(=)" "p.(=)" "" "0000275735" "00006723" "30" "9081" "0" "9081" "0" "c.*1131G>A" "r.(=)" "p.(=)" "" "0000275736" "00006723" "50" "4961" "0" "4961" "0" "c.4961C>T" "r.(?)" "p.(Ala1654Val)" "" "0000275736" "00026049" "50" "4930" "-4589" "4930" "-4589" "c.4930-4589C>T" "r.(?)" "p.(=)" "" "0000275737" "00006723" "50" "25575" "0" "25575" "0" "c.*17625A>T" "r.(=)" "p.(=)" "" "0000275738" "00006723" "10" "-311740" "0" "-311740" "0" "c.-311740C>G" "r.(?)" "p.(=)" "" "0000275739" "00006723" "50" "29758" "0" "29758" "0" "c.*21808G>A" "r.(=)" "p.(=)" "" "0000275740" "00006723" "30" "31242" "0" "31242" "0" "c.*23292C>T" "r.(=)" "p.(=)" "" "0000275741" "00006723" "30" "6891" "0" "6891" "0" "c.6891C>T" "r.(?)" "p.(Asn2297=)" "" "0000275741" "00026049" "30" "4930" "-2092" "4930" "-2092" "c.4930-2092C>T" "r.(?)" "p.(=)" "" "0000275742" "00006723" "30" "50439" "0" "50439" "0" "c.*42489A>G" "r.(=)" "p.(=)" "" "0000275743" "00006723" "50" "7190" "0" "7190" "0" "c.7190C>G" "r.(?)" "p.(Thr2397Arg)" "" "0000275743" "00026049" "50" "4930" "-1793" "4930" "-1793" "c.4930-1793C>G" "r.(?)" "p.(=)" "" "0000275744" "00006723" "50" "-61527" "0" "-61527" "0" "c.-61527A>G" "r.(?)" "p.(=)" "" "0000275745" "00006723" "30" "7765" "0" "7765" "0" "c.7765A>G" "r.(?)" "p.(Ile2589Val)" "" "0000275745" "00026049" "30" "4930" "-1218" "4930" "-1218" "c.4930-1218A>G" "r.(?)" "p.(=)" "" "0000275746" "00006723" "10" "63046" "0" "63046" "0" "c.*55096G>A" "r.(=)" "p.(=)" "" "0000343148" "00006723" "50" "1778" "0" "1778" "0" "c.1778G>A" "r.(?)" "p.(Arg593His)" "" "0000343148" "00026049" "50" "3389" "0" "3389" "0" "c.3389G>A" "r.(?)" "p.(Arg1130His)" "" "0000529140" "00006723" "50" "164437" "0" "164437" "0" "c.*156487A>G" "r.(=)" "p.(=)" "" "0000529141" "00006723" "30" "160378" "0" "160378" "0" "c.*152428G>A" "r.(=)" "p.(=)" "" "0000529142" "00006723" "30" "159905" "0" "159905" "0" "c.*151955A>G" "r.(=)" "p.(=)" "" "0000529143" "00006723" "30" "159859" "0" "159859" "0" "c.*151909C>T" "r.(=)" "p.(=)" "" "0000529144" "00006723" "30" "159839" "0" "159839" "0" "c.*151889T>C" "r.(=)" "p.(=)" "" "0000529145" "00006723" "30" "153321" "0" "153321" "0" "c.*145371C>T" "r.(=)" "p.(=)" "" "0000529146" "00006723" "30" "147115" "0" "147116" "0" "c.*139165_*139166del" "r.(=)" "p.(=)" "" "0000529147" "00006723" "30" "141278" "0" "141279" "0" "c.*133328_*133329dup" "r.(=)" "p.(=)" "" "0000529148" "00006723" "10" "141279" "0" "141280" "0" "c.*133329_*133330insTGTGTGTGTGTGTGTGTGTGTGTG" "r.(=)" "p.(=)" "" "0000529149" "00006723" "30" "141279" "0" "141280" "0" "c.*133329_*133330insTGTGTGTGTGTGTGTGTGTGTGTGTG" "r.(=)" "p.(=)" "" "0000529151" "00006723" "10" "136293" "0" "136293" "0" "c.*128343C>G" "r.(=)" "p.(=)" "" "0000529153" "00006723" "30" "131024" "0" "131024" "0" "c.*123074T>C" "r.(=)" "p.(=)" "" "0000529154" "00006723" "10" "130524" "0" "130524" "0" "c.*122574C>T" "r.(=)" "p.(=)" "" "0000529155" "00006723" "30" "125977" "0" "125977" "0" "c.*118027C>T" "r.(=)" "p.(=)" "" "0000529156" "00006723" "50" "125534" "0" "125534" "0" "c.*117584G>T" "r.(=)" "p.(=)" "" "0000529157" "00006723" "50" "121863" "0" "121863" "0" "c.*113913G>C" "r.(=)" "p.(=)" "" "0000529158" "00006723" "10" "121855" "0" "121855" "0" "c.*113905A>G" "r.(=)" "p.(=)" "" "0000529159" "00006723" "30" "121836" "0" "121836" "0" "c.*113886G>A" "r.(=)" "p.(=)" "" "0000529160" "00006723" "50" "119466" "0" "119466" "0" "c.*111516T>C" "r.(=)" "p.(=)" "" "0000529161" "00006723" "50" "117001" "0" "117001" "0" "c.*109051G>A" "r.(=)" "p.(=)" "" "0000529162" "00006723" "30" "117000" "0" "117000" "0" "c.*109050C>T" "r.(=)" "p.(=)" "" "0000529163" "00006723" "30" "116758" "0" "116758" "0" "c.*108808T>C" "r.(=)" "p.(=)" "" "0000529164" "00006723" "50" "113751" "0" "113751" "0" "c.*105801A>G" "r.(=)" "p.(=)" "" "0000529165" "00006723" "50" "113721" "0" "113721" "0" "c.*105771C>T" "r.(=)" "p.(=)" "" "0000529166" "00006723" "50" "113661" "0" "113661" "0" "c.*105711C>T" "r.(=)" "p.(=)" "" "0000529167" "00006723" "30" "105894" "0" "105894" "0" "c.*97944A>T" "r.(=)" "p.(=)" "" "0000529168" "00006723" "30" "97038" "0" "97038" "0" "c.*89088C>A" "r.(=)" "p.(=)" "" "0000529169" "00006723" "50" "96916" "0" "96916" "0" "c.*88966C>G" "r.(=)" "p.(=)" "" "0000529170" "00006723" "50" "95972" "0" "95972" "0" "c.*88022A>G" "r.(=)" "p.(=)" "" "0000529171" "00006723" "50" "95852" "0" "95852" "0" "c.*87902C>T" "r.(=)" "p.(=)" "" "0000529172" "00006723" "50" "93891" "0" "93891" "0" "c.*85941G>C" "r.(=)" "p.(=)" "" "0000529173" "00006723" "50" "93891" "0" "93891" "0" "c.*85941G>C" "r.(=)" "p.(=)" "" "0000529174" "00006723" "50" "93446" "0" "93446" "0" "c.*85496A>G" "r.(=)" "p.(=)" "" "0000529175" "00006723" "30" "93316" "0" "93316" "0" "c.*85366C>T" "r.(=)" "p.(=)" "" "0000529176" "00006723" "10" "71250" "0" "71250" "0" "c.*63300G>A" "r.(=)" "p.(=)" "" "0000529177" "00006723" "10" "71073" "0" "71073" "0" "c.*63123G>A" "r.(=)" "p.(=)" "" "0000529178" "00006723" "30" "70908" "0" "70908" "0" "c.*62958G>C" "r.(=)" "p.(=)" "" "0000529179" "00006723" "10" "70536" "0" "70536" "0" "c.*62586G>A" "r.(=)" "p.(=)" "" "0000529180" "00006723" "30" "70440" "0" "70440" "0" "c.*62490C>T" "r.(=)" "p.(=)" "" "0000529181" "00006723" "10" "70259" "0" "70259" "0" "c.*62309G>A" "r.(=)" "p.(=)" "" "0000529182" "00006723" "30" "69849" "0" "69849" "0" "c.*61899C>T" "r.(=)" "p.(=)" "" "0000529183" "00006723" "10" "66049" "0" "66049" "0" "c.*58099A>G" "r.(=)" "p.(=)" "" "0000529184" "00006723" "10" "63045" "0" "63045" "0" "c.*55095C>T" "r.(=)" "p.(=)" "" "0000529185" "00006723" "30" "62109" "0" "62109" "0" "c.*54159C>G" "r.(=)" "p.(=)" "" "0000529186" "00006723" "30" "62094" "0" "62094" "0" "c.*54144A>C" "r.(=)" "p.(=)" "" "0000529187" "00006723" "10" "62023" "0" "62023" "0" "c.*54073A>G" "r.(=)" "p.(=)" "" "0000529188" "00006723" "30" "61264" "0" "61264" "0" "c.*53314C>T" "r.(=)" "p.(=)" "" "0000529190" "00006723" "50" "54920" "0" "54920" "0" "c.*46970A>C" "r.(=)" "p.(=)" "" "0000529192" "00006723" "50" "50665" "0" "50665" "0" "c.*42715T>C" "r.(=)" "p.(=)" "" "0000529193" "00006723" "50" "49616" "0" "49616" "0" "c.*41666C>G" "r.(=)" "p.(=)" "" "0000529194" "00006723" "30" "31221" "0" "31221" "0" "c.*23271A>G" "r.(=)" "p.(=)" "" "0000529195" "00006723" "30" "31221" "0" "31221" "0" "c.*23271A>G" "r.(=)" "p.(=)" "" "0000529196" "00006723" "50" "31176" "0" "31176" "0" "c.*23226G>A" "r.(=)" "p.(=)" "" "0000529197" "00006723" "10" "29714" "0" "29714" "0" "c.*21764C>T" "r.(=)" "p.(=)" "" "0000529198" "00006723" "10" "29429" "0" "29429" "0" "c.*21479T>G" "r.(=)" "p.(=)" "" "0000529199" "00006723" "50" "25575" "0" "25575" "0" "c.*17625A>T" "r.(=)" "p.(=)" "" "0000529200" "00006723" "30" "23362" "0" "23362" "0" "c.*15412C>A" "r.(=)" "p.(=)" "" "0000529201" "00006723" "30" "23238" "0" "23238" "0" "c.*15288C>T" "r.(=)" "p.(=)" "" "0000529202" "00006723" "10" "17714" "0" "17714" "0" "c.*9764A>T" "r.(=)" "p.(=)" "" "0000529203" "00006723" "30" "11912" "0" "11912" "0" "c.*3962G>A" "r.(=)" "p.(=)" "" "0000529205" "00006723" "30" "9120" "0" "9120" "0" "c.*1170A>G" "r.(=)" "p.(=)" "" "0000529206" "00006723" "50" "9050" "0" "9050" "0" "c.*1100A>T" "r.(=)" "p.(=)" "" "0000529207" "00006723" "30" "9050" "0" "9050" "0" "c.*1100A>T" "r.(=)" "p.(=)" "" "0000529208" "00006723" "50" "7921" "0" "7921" "0" "c.7921G>A" "r.(?)" "p.(Gly2641Arg)" "" "0000529208" "00026049" "50" "4930" "-1062" "4930" "-1062" "c.4930-1062G>A" "r.(?)" "p.(=)" "" "0000529209" "00006723" "50" "7717" "0" "7717" "0" "c.7717C>T" "r.(?)" "p.(Arg2573Trp)" "" "0000529209" "00026049" "50" "4930" "-1266" "4930" "-1266" "c.4930-1266C>T" "r.(?)" "p.(=)" "" "0000529210" "00006723" "50" "7663" "0" "7663" "0" "c.7663T>C" "r.(?)" "p.(Cys2555Arg)" "" "0000529210" "00026049" "50" "4930" "-1320" "4930" "-1320" "c.4930-1320T>C" "r.(?)" "p.(=)" "" "0000529211" "00006723" "50" "6637" "0" "6637" "0" "c.6637A>C" "r.(?)" "p.(Lys2213Gln)" "" "0000529211" "00026049" "50" "4930" "-2346" "4930" "-2346" "c.4930-2346A>C" "r.(?)" "p.(=)" "" "0000529212" "00006723" "50" "6607" "0" "6607" "0" "c.6607G>T" "r.(?)" "p.(Glu2203Ter)" "" "0000529212" "00026049" "50" "4930" "-2376" "4930" "-2376" "c.4930-2376G>T" "r.(?)" "p.(=)" "" "0000529213" "00006723" "30" "6498" "0" "6498" "0" "c.6498G>A" "r.(?)" "p.(Val2166=)" "" "0000529213" "00026049" "30" "4930" "-2485" "4930" "-2485" "c.4930-2485G>A" "r.(?)" "p.(=)" "" "0000529214" "00006723" "50" "6451" "0" "6451" "0" "c.6451A>T" "r.(?)" "p.(Ile2151Phe)" "" "0000529214" "00026049" "50" "4930" "-2532" "4930" "-2532" "c.4930-2532A>T" "r.(?)" "p.(=)" "" "0000529215" "00006723" "30" "6401" "0" "6401" "0" "c.6401C>T" "r.(?)" "p.(Thr2134Met)" "" "0000529215" "00026049" "30" "4930" "-2582" "4930" "-2582" "c.4930-2582C>T" "r.(?)" "p.(=)" "" "0000529216" "00006723" "30" "5970" "0" "5970" "0" "c.5970G>C" "r.(?)" "p.(Leu1990=)" "" "0000529216" "00026049" "30" "4930" "-3580" "4930" "-3580" "c.4930-3580G>C" "r.(?)" "p.(=)" "" "0000529217" "00006723" "30" "5930" "0" "5930" "0" "c.5930C>G" "r.(?)" "p.(Thr1977Arg)" "" "0000529217" "00026049" "30" "4930" "-3620" "4930" "-3620" "c.4930-3620C>G" "r.(?)" "p.(=)" "" "0000529218" "00006723" "30" "5909" "0" "5909" "0" "c.5909T>C" "r.(?)" "p.(Phe1970Ser)" "" "0000529218" "00026049" "30" "4930" "-3641" "4930" "-3641" "c.4930-3641T>C" "r.(?)" "p.(=)" "" "0000529219" "00006723" "50" "5909" "0" "5909" "0" "c.5909T>C" "r.(?)" "p.(Phe1970Ser)" "" "0000529219" "00026049" "50" "4930" "-3641" "4930" "-3641" "c.4930-3641T>C" "r.(?)" "p.(=)" "" "0000529220" "00006723" "30" "5909" "0" "5909" "0" "c.5909T>C" "r.(?)" "p.(Phe1970Ser)" "" "0000529220" "00026049" "30" "4930" "-3641" "4930" "-3641" "c.4930-3641T>C" "r.(?)" "p.(=)" "" "0000529221" "00006723" "30" "5892" "0" "5892" "0" "c.5892C>T" "r.(?)" "p.(Thr1964=)" "" "0000529221" "00026049" "30" "4930" "-3658" "4930" "-3658" "c.4930-3658C>T" "r.(?)" "p.(=)" "" "0000529222" "00006723" "30" "5808" "0" "5808" "0" "c.5808A>G" "r.(?)" "p.(Glu1936=)" "" "0000529222" "00026049" "30" "4930" "-3742" "4930" "-3742" "c.4930-3742A>G" "r.(?)" "p.(=)" "" "0000529223" "00006723" "10" "5780" "0" "5780" "0" "c.5780A>G" "r.(?)" "p.(His1927Arg)" "" "0000529223" "00026049" "10" "4930" "-3770" "4930" "-3770" "c.4930-3770A>G" "r.(?)" "p.(=)" "" "0000529224" "00006723" "30" "5780" "0" "5780" "0" "c.5780A>G" "r.(?)" "p.(His1927Arg)" "" "0000529224" "00026049" "30" "4930" "-3770" "4930" "-3770" "c.4930-3770A>G" "r.(?)" "p.(=)" "" "0000529226" "00006723" "50" "5153" "0" "5153" "0" "c.5153A>C" "r.(?)" "p.(Lys1718Thr)" "" "0000529226" "00026049" "50" "4930" "-4397" "4930" "-4397" "c.4930-4397A>C" "r.(?)" "p.(=)" "" "0000529227" "00006723" "30" "5153" "0" "5153" "0" "c.5153A>C" "r.(?)" "p.(Lys1718Thr)" "" "0000529227" "00026049" "30" "4930" "-4397" "4930" "-4397" "c.4930-4397A>C" "r.(?)" "p.(=)" "" "0000529228" "00006723" "30" "5153" "0" "5153" "0" "c.5153A>C" "r.(?)" "p.(Lys1718Thr)" "" "0000529228" "00026049" "30" "4930" "-4397" "4930" "-4397" "c.4930-4397A>C" "r.(?)" "p.(=)" "" "0000529229" "00006723" "10" "5055" "0" "5055" "0" "c.5055T>C" "r.(?)" "p.(Asn1685=)" "" "0000529229" "00026049" "10" "4930" "-4495" "4930" "-4495" "c.4930-4495T>C" "r.(?)" "p.(=)" "" "0000529230" "00006723" "10" "4980" "0" "4980" "0" "c.4980A>C" "r.(?)" "p.(Val1660=)" "" "0000529230" "00026049" "10" "4930" "-4570" "4930" "-4570" "c.4930-4570A>C" "r.(?)" "p.(=)" "" "0000529231" "00006723" "50" "4961" "0" "4961" "0" "c.4961C>T" "r.(?)" "p.(Ala1654Val)" "" "0000529231" "00026049" "50" "4930" "-4589" "4930" "-4589" "c.4930-4589C>T" "r.(?)" "p.(=)" "" "0000529232" "00006723" "50" "4729" "0" "4729" "0" "c.4729G>A" "r.(?)" "p.(Glu1577Lys)" "" "0000529232" "00026049" "50" "4930" "-4821" "4930" "-4821" "c.4930-4821G>A" "r.(?)" "p.(=)" "" "0000529233" "00006723" "10" "4674" "0" "4674" "0" "c.4674C>T" "r.(?)" "p.(Leu1558=)" "" "0000529233" "00026049" "10" "4930" "-4876" "4930" "-4876" "c.4930-4876C>T" "r.(?)" "p.(=)" "" "0000529234" "00006723" "50" "4028" "0" "4028" "0" "c.4028C>T" "r.(?)" "p.(Ala1343Val)" "" "0000529234" "00026049" "50" "4929" "4524" "4929" "4524" "c.4929+4524C>T" "r.(?)" "p.(=)" "" "0000529235" "00006723" "50" "3943" "0" "3943" "0" "c.3943A>G" "r.(?)" "p.(Ile1315Val)" "" "0000529235" "00026049" "50" "4929" "4439" "4929" "4439" "c.4929+4439A>G" "r.(?)" "p.(=)" "" "0000529236" "00006723" "50" "3646" "0" "3646" "0" "c.3646C>T" "r.(?)" "p.(Arg1216Trp)" "" "0000529236" "00026049" "50" "4929" "4142" "4929" "4142" "c.4929+4142C>T" "r.(?)" "p.(=)" "" "0000529237" "00006723" "30" "3591" "0" "3591" "0" "c.3591C>T" "r.(?)" "p.(Arg1197=)" "" "0000529237" "00026049" "30" "4929" "4087" "4929" "4087" "c.4929+4087C>T" "r.(?)" "p.(=)" "" "0000529238" "00006723" "30" "3391" "0" "3391" "0" "c.3391C>G" "r.(?)" "p.(Leu1131Val)" "" "0000529238" "00026049" "30" "4929" "3887" "4929" "3887" "c.4929+3887C>G" "r.(?)" "p.(=)" "" "0000529239" "00006723" "30" "3336" "0" "3336" "0" "c.3336G>C" "r.(?)" "p.(Glu1112Asp)" "" "0000529239" "00026049" "30" "4929" "3832" "4929" "3832" "c.4929+3832G>C" "r.(?)" "p.(=)" "" "0000529240" "00006723" "50" "3336" "0" "3336" "0" "c.3336G>C" "r.(?)" "p.(Glu1112Asp)" "" "0000529240" "00026049" "50" "4929" "3832" "4929" "3832" "c.4929+3832G>C" "r.(?)" "p.(=)" "" "0000529242" "00006723" "30" "3336" "0" "3336" "0" "c.3336G>C" "r.(?)" "p.(Glu1112Asp)" "" "0000529242" "00026049" "30" "4929" "3832" "4929" "3832" "c.4929+3832G>C" "r.(?)" "p.(=)" "" "0000529244" "00006723" "50" "3239" "0" "3239" "0" "c.3239G>A" "r.(?)" "p.(Arg1080Gln)" "" "0000529244" "00026049" "50" "4850" "0" "4850" "0" "c.4850G>A" "r.(?)" "p.(Arg1617Gln)" "" "0000529245" "00006723" "10" "3234" "0" "3234" "0" "c.3234G>A" "r.(?)" "p.(Arg1078=)" "" "0000529245" "00026049" "10" "4845" "0" "4845" "0" "c.4845G>A" "r.(?)" "p.(Arg1615=)" "" "0000529246" "00006723" "50" "3139" "0" "3139" "0" "c.3139C>T" "r.(?)" "p.(Arg1047Trp)" "" "0000529246" "00026049" "50" "4750" "0" "4750" "0" "c.4750C>T" "r.(?)" "p.(Arg1584Trp)" "" "0000529247" "00006723" "30" "3027" "7" "3027" "7" "c.3027+7A>T" "r.(=)" "p.(=)" "" "0000529247" "00026049" "30" "4638" "7" "4638" "7" "c.4638+7A>T" "r.(?)" "p.?" "" "0000529249" "00006723" "50" "2859" "0" "2859" "0" "c.2859C>A" "r.(?)" "p.(Asp953Glu)" "" "0000529249" "00026049" "50" "4470" "0" "4470" "0" "c.4470C>A" "r.(?)" "p.(Asp1490Glu)" "" "0000529250" "00006723" "50" "2672" "0" "2672" "0" "c.2672A>G" "r.(?)" "p.(Gln891Arg)" "" "0000529250" "00026049" "50" "4283" "0" "4283" "0" "c.4283A>G" "r.(?)" "p.(Gln1428Arg)" "" "0000529251" "00006723" "50" "2618" "0" "2620" "0" "c.2618_2620del" "r.(?)" "p.(Glu873del)" "" "0000529251" "00026049" "50" "4229" "0" "4231" "0" "c.4229_4231del" "r.(?)" "p.(Glu1410del)" "" "0000529252" "00006723" "10" "2589" "0" "2589" "0" "c.2589A>G" "r.(?)" "p.(Lys863=)" "" "0000529252" "00026049" "10" "4200" "0" "4200" "0" "c.4200A>G" "r.(?)" "p.(Lys1400=)" "" "0000529253" "00006723" "30" "1946" "0" "1946" "0" "c.1946G>A" "r.(?)" "p.(Ser649Asn)" "" "0000529253" "00026049" "30" "3557" "0" "3557" "0" "c.3557G>A" "r.(?)" "p.(Ser1186Asn)" "" "0000529255" "00006723" "30" "1515" "0" "1515" "0" "c.1515G>A" "r.(?)" "p.(Lys505=)" "" "0000529255" "00026049" "30" "3126" "0" "3126" "0" "c.3126G>A" "r.(?)" "p.(Lys1042=)" "" "0000529256" "00006723" "50" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Asp413Asn)" "" "0000529256" "00026049" "50" "2848" "0" "2848" "0" "c.2848G>A" "r.(?)" "p.(Asp950Asn)" "" "0000529257" "00006723" "50" "1094" "0" "1094" "0" "c.1094C>G" "r.(?)" "p.(Ser365Cys)" "" "0000529257" "00026049" "50" "2705" "0" "2705" "0" "c.2705C>G" "r.(?)" "p.(Ser902Cys)" "" "0000529258" "00006723" "50" "1094" "0" "1094" "0" "c.1094C>G" "r.(?)" "p.(Ser365Cys)" "" "0000529258" "00026049" "50" "2705" "0" "2705" "0" "c.2705C>G" "r.(?)" "p.(Ser902Cys)" "" "0000529259" "00006723" "30" "1086" "16" "1086" "16" "c.1086+16del" "r.(=)" "p.(=)" "" "0000529259" "00026049" "30" "2697" "16" "2697" "16" "c.2697+16del" "r.(?)" "p.(=)" "" "0000529260" "00006723" "10" "1086" "16" "1086" "16" "c.1086+16dup" "r.(=)" "p.(=)" "" "0000529260" "00026049" "10" "2697" "16" "2697" "16" "c.2697+16dup" "r.(?)" "p.(=)" "" "0000529261" "00006723" "50" "1018" "0" "1018" "0" "c.1018A>G" "r.(?)" "p.(Thr340Ala)" "" "0000529261" "00026049" "50" "2629" "0" "2629" "0" "c.2629A>G" "r.(?)" "p.(Thr877Ala)" "" "0000529262" "00006723" "30" "978" "0" "978" "0" "c.978A>G" "r.(?)" "p.(Glu326=)" "" "0000529262" "00026049" "30" "2589" "0" "2589" "0" "c.2589A>G" "r.(?)" "p.(Glu863=)" "" "0000529263" "00006723" "30" "880" "-6" "880" "-6" "c.880-6C>T" "r.(=)" "p.(=)" "" "0000529263" "00026049" "30" "2491" "-6" "2491" "-6" "c.2491-6C>T" "r.(?)" "p.(=)" "" "0000529264" "00006723" "30" "739" "0" "739" "0" "c.739C>G" "r.(?)" "p.(Pro247Ala)" "" "0000529264" "00026049" "30" "2350" "0" "2350" "0" "c.2350C>G" "r.(?)" "p.(Pro784Ala)" "" "0000529265" "00006723" "30" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Gly48Ser)" "" "0000529265" "00026049" "30" "1779" "-144" "1779" "-144" "c.1779-144G>A" "r.(?)" "p.(=)" "" "0000529266" "00006723" "30" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(Arg9Cys)" "" "0000529266" "00026049" "30" "1779" "-261" "1779" "-261" "c.1779-261C>T" "r.(?)" "p.(=)" "" "0000529267" "00006723" "90" "22" "0" "22" "0" "c.22del" "r.(?)" "p.(Tyr8ThrfsTer33)" "" "0000529267" "00026049" "90" "1779" "-264" "1779" "-264" "c.1779-264del" "r.(?)" "p.(=)" "" "0000529268" "00006723" "10" "-3361" "0" "-3361" "0" "c.-3361A>G" "r.(?)" "p.(=)" "" "0000529269" "00006723" "30" "-5773" "0" "-5773" "0" "c.-5773C>T" "r.(?)" "p.(=)" "" "0000529270" "00006723" "50" "-61521" "0" "-61521" "0" "c.-61521C>G" "r.(?)" "p.(=)" "" "0000529271" "00006723" "30" "-61591" "0" "-61591" "0" "c.-61591C>G" "r.(?)" "p.(=)" "" "0000529272" "00006723" "30" "-92424" "0" "-92424" "0" "c.-92424G>A" "r.(?)" "p.(=)" "" "0000529273" "00006723" "30" "-200250" "0" "-200250" "0" "c.-200250C>T" "r.(?)" "p.(=)" "" "0000529274" "00006723" "30" "-200339" "0" "-200339" "0" "c.-200339C>T" "r.(?)" "p.(=)" "" "0000529276" "00006723" "30" "-208824" "0" "-208824" "0" "c.-208824C>A" "r.(?)" "p.(=)" "" "0000529277" "00006723" "10" "-257755" "0" "-257755" "0" "c.-257755G>A" "r.(?)" "p.(=)" "" "0000529278" "00006723" "30" "-257792" "0" "-257792" "0" "c.-257792A>G" "r.(?)" "p.(=)" "" "0000529279" "00006723" "30" "-311810" "0" "-311806" "0" "c.-311810_-311806dup" "r.(?)" "p.(=)" "" "0000610394" "00006723" "50" "151250" "0" "151250" "0" "c.*143300C>T" "r.(=)" "p.(=)" "" "0000610395" "00006723" "30" "141279" "0" "141280" "0" "c.*133329_*133330insTGTGTGTGTGTGTGTGTGTGTG" "r.(=)" "p.(=)" "" "0000610396" "00006723" "50" "93446" "0" "93446" "0" "c.*85496A>G" "r.(=)" "p.(=)" "" "0000610397" "00006723" "50" "68078" "0" "68078" "0" "c.*60128T>A" "r.(=)" "p.(=)" "" "0000610398" "00006723" "50" "62083" "0" "62083" "0" "c.*54133A>G" "r.(=)" "p.(=)" "" "0000610399" "00006723" "30" "44662" "0" "44662" "0" "c.*36712T>C" "r.(=)" "p.(=)" "" "0000610400" "00006723" "50" "29758" "0" "29758" "0" "c.*21808G>A" "r.(=)" "p.(=)" "" "0000610401" "00006723" "30" "7135" "0" "7135" "0" "c.7135G>A" "r.(?)" "p.(Ala2379Thr)" "" "0000610401" "00026049" "30" "4930" "-1848" "4930" "-1848" "c.4930-1848G>A" "r.(?)" "p.(=)" "" "0000610402" "00006723" "50" "6868" "0" "6868" "0" "c.6868A>G" "r.(?)" "p.(Arg2290Gly)" "" "0000610402" "00026049" "50" "4930" "-2115" "4930" "-2115" "c.4930-2115A>G" "r.(?)" "p.(=)" "" "0000610403" "00006723" "30" "4263" "0" "4263" "0" "c.4263G>A" "r.(?)" "p.(Lys1421=)" "" "0000610403" "00026049" "30" "4929" "4759" "4929" "4759" "c.4929+4759G>A" "r.(?)" "p.(=)" "" "0000610404" "00006723" "30" "84" "0" "84" "0" "c.84T>C" "r.(?)" "p.(Asn28=)" "" "0000610404" "00026049" "30" "1779" "-202" "1779" "-202" "c.1779-202T>C" "r.(?)" "p.(=)" "" "0000610405" "00006723" "50" "-5823" "0" "-5823" "0" "c.-5823A>G" "r.(?)" "p.(=)" "" "0000610406" "00006723" "30" "-8186" "0" "-8186" "0" "c.-8186T>C" "r.(?)" "p.(=)" "" "0000610407" "00006723" "30" "-311752" "0" "-311752" "0" "c.-311752A>G" "r.(?)" "p.(=)" "" "0000621724" "00006723" "50" "153214" "0" "153214" "0" "c.*145264G>T" "r.(=)" "p.(=)" "" "0000621725" "00006723" "30" "141333" "0" "141333" "0" "c.*133383G>A" "r.(=)" "p.(=)" "" "0000621726" "00006723" "30" "25712" "0" "25712" "0" "c.*17762A>G" "r.(=)" "p.(=)" "" "0000621727" "00006723" "10" "13000" "0" "13000" "0" "c.*5050A>C" "r.(=)" "p.(=)" "" "0000621728" "00006723" "30" "7839" "0" "7839" "0" "c.7839A>C" "r.(?)" "p.(Thr2613=)" "" "0000621728" "00026049" "30" "4930" "-1144" "4930" "-1144" "c.4930-1144A>C" "r.(?)" "p.(=)" "" "0000621729" "00006723" "10" "5428" "0" "5428" "0" "c.5428T>C" "r.(?)" "p.(Tyr1810His)" "" "0000621729" "00026049" "10" "4930" "-4122" "4930" "-4122" "c.4930-4122T>C" "r.(?)" "p.(=)" "" "0000621730" "00006723" "50" "4772" "0" "4772" "0" "c.4772A>C" "r.(?)" "p.(Gln1591Pro)" "" "0000621730" "00026049" "50" "4930" "-4778" "4930" "-4778" "c.4930-4778A>C" "r.(?)" "p.(=)" "" "0000621731" "00006723" "30" "3719" "0" "3719" "0" "c.3719A>G" "r.(?)" "p.(Asn1240Ser)" "" "0000621731" "00026049" "30" "4929" "4215" "4929" "4215" "c.4929+4215A>G" "r.(?)" "p.(=)" "" "0000621732" "00006723" "30" "3374" "0" "3374" "0" "c.3374G>C" "r.(?)" "p.(Arg1125Pro)" "" "0000621732" "00026049" "30" "4929" "3870" "4929" "3870" "c.4929+3870G>C" "r.(?)" "p.(=)" "" "0000621733" "00006723" "10" "3346" "0" "3346" "0" "c.3346C>T" "r.(?)" "p.(His1116Tyr)" "" "0000621733" "00026049" "10" "4929" "3842" "4929" "3842" "c.4929+3842C>T" "r.(?)" "p.(=)" "" "0000621734" "00006723" "50" "3229" "0" "3229" "0" "c.3229C>G" "r.(?)" "p.(Leu1077Val)" "" "0000621734" "00026049" "50" "4840" "0" "4840" "0" "c.4840C>G" "r.(?)" "p.(Leu1614Val)" "" "0000621735" "00006723" "10" "2864" "15" "2864" "15" "c.2864+15T>A" "r.(=)" "p.(=)" "" "0000621735" "00026049" "10" "4475" "15" "4475" "15" "c.4475+15T>A" "r.(?)" "p.(=)" "" "0000621736" "00006723" "10" "2451" "0" "2451" "0" "c.2451C>T" "r.(?)" "p.(Val817=)" "" "0000621736" "00026049" "10" "4062" "0" "4062" "0" "c.4062C>T" "r.(?)" "p.(Val1354=)" "" "0000621737" "00006723" "10" "1884" "-17" "1884" "-17" "c.1884-17T>C" "r.(=)" "p.(=)" "" "0000621737" "00026049" "10" "3495" "-17" "3495" "-17" "c.3495-17T>C" "r.(?)" "p.(=)" "" "0000621738" "00006723" "10" "1881" "0" "1881" "0" "c.1881C>T" "r.(?)" "p.(Asn627=)" "" "0000621738" "00026049" "10" "3492" "0" "3492" "0" "c.3492C>T" "r.(?)" "p.(Asn1164=)" "" "0000652014" "00006723" "50" "8119" "0" "8119" "0" "c.*169A>C" "r.(=)" "p.(=)" "" "0000652014" "00026049" "50" "4930" "-864" "4930" "-864" "c.4930-864A>C" "r.(?)" "p.(=)" "" "0000652015" "00006723" "30" "7765" "0" "7765" "0" "c.7765A>G" "r.(?)" "p.(Ile2589Val)" "" "0000652015" "00026049" "30" "4930" "-1218" "4930" "-1218" "c.4930-1218A>G" "r.(?)" "p.(=)" "" "0000652016" "00006723" "30" "3809" "0" "3809" "0" "c.3809A>G" "r.(?)" "p.(Lys1270Arg)" "" "0000652016" "00026049" "30" "4929" "4305" "4929" "4305" "c.4929+4305A>G" "r.(?)" "p.(=)" "" "0000652017" "00006723" "10" "3234" "0" "3234" "0" "c.3234G>A" "r.(=)" "p.(=)" "" "0000652017" "00026049" "10" "4845" "0" "4845" "0" "c.4845G>A" "r.(=)" "p.(Arg1615=)" "" "0000652018" "00006723" "30" "2841" "0" "2841" "0" "c.2841T>C" "r.(=)" "p.(=)" "" "0000652018" "00026049" "30" "4452" "0" "4452" "0" "c.4452T>C" "r.(?)" "p.(Asn1484=)" "" "0000652019" "00006723" "30" "2719" "0" "2719" "0" "c.2719G>A" "r.(?)" "p.(Glu907Lys)" "" "0000652019" "00026049" "30" "4330" "0" "4330" "0" "c.4330G>A" "r.(?)" "p.(Glu1444Lys)" "" "0000652020" "00006723" "10" "757" "0" "757" "0" "c.757T>C" "r.(?)" "p.(Leu253=)" "" "0000652020" "00026049" "10" "2368" "0" "2368" "0" "c.2368T>C" "r.(?)" "p.(Leu790=)" "" "0000652021" "00006723" "10" "98" "0" "98" "0" "c.98T>C" "r.(?)" "p.(Leu33Ser)" "" "0000652021" "00026049" "10" "1779" "-188" "1779" "-188" "c.1779-188T>C" "r.(?)" "p.(=)" "" "0000655611" "00006723" "30" "159859" "0" "159859" "0" "c.*151909C>T" "r.(=)" "p.(=)" "" "0000655612" "00006723" "50" "153226" "0" "153226" "0" "c.*145276A>G" "r.(=)" "p.(=)" "" "0000655613" "00006723" "30" "147115" "0" "147116" "0" "c.*139165_*139166del" "r.(=)" "p.(=)" "" "0000655614" "00006723" "30" "141278" "0" "141279" "0" "c.*133328_*133329dup" "r.(=)" "p.(=)" "" "0000655615" "00006723" "50" "140684" "0" "140684" "0" "c.*132734C>G" "r.(=)" "p.(=)" "" "0000655616" "00006723" "50" "133916" "0" "133916" "0" "c.*125966A>G" "r.(=)" "p.(=)" "" "0000655617" "00006723" "50" "107874" "0" "107874" "0" "c.*99924C>T" "r.(=)" "p.(=)" "" "0000655618" "00006723" "30" "23238" "0" "23238" "0" "c.*15288C>T" "r.(=)" "p.(=)" "" "0000655619" "00006723" "30" "11854" "0" "11854" "0" "c.*3904C>G" "r.(=)" "p.(=)" "" "0000655620" "00006723" "30" "9011" "0" "9011" "0" "c.*1061A>G" "r.(=)" "p.(=)" "" "0000655621" "00006723" "30" "7135" "0" "7135" "0" "c.7135G>A" "r.(?)" "p.(Ala2379Thr)" "" "0000655621" "00026049" "30" "4930" "-1848" "4930" "-1848" "c.4930-1848G>A" "r.(?)" "p.(=)" "" "0000655622" "00006723" "30" "6401" "0" "6401" "0" "c.6401C>T" "r.(?)" "p.(Thr2134Met)" "" "0000655622" "00026049" "30" "4930" "-2582" "4930" "-2582" "c.4930-2582C>T" "r.(?)" "p.(=)" "" "0000655623" "00006723" "50" "6274" "0" "6274" "0" "c.6274C>T" "r.(?)" "p.(Leu2092Phe)" "" "0000655623" "00026049" "50" "4930" "-2709" "4930" "-2709" "c.4930-2709C>T" "r.(?)" "p.(=)" "" "0000655624" "00006723" "50" "4713" "0" "4713" "0" "c.4713G>A" "r.(?)" "p.(Met1571Ile)" "" "0000655624" "00026049" "50" "4930" "-4837" "4930" "-4837" "c.4930-4837G>A" "r.(?)" "p.(=)" "" "0000655625" "00006723" "10" "3027" "16" "3027" "16" "c.3027+16T>A" "r.(=)" "p.(=)" "" "0000655625" "00026049" "10" "4638" "16" "4638" "16" "c.4638+16T>A" "r.(?)" "p.(=)" "" "0000655626" "00006723" "30" "3027" "7" "3027" "7" "c.3027+7A>T" "r.(=)" "p.(=)" "" "0000655626" "00026049" "30" "4638" "7" "4638" "7" "c.4638+7A>T" "r.(?)" "p.?" "" "0000655627" "00006723" "50" "1019" "0" "1019" "0" "c.1019C>T" "r.(?)" "p.(Thr340Ile)" "" "0000655627" "00026049" "50" "2630" "0" "2630" "0" "c.2630C>T" "r.(?)" "p.(Thr877Ile)" "" "0000655628" "00006723" "30" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(Arg9Cys)" "" "0000655628" "00026049" "30" "1779" "-261" "1779" "-261" "c.1779-261C>T" "r.(?)" "p.(=)" "" "0000655629" "00006723" "30" "-257681" "0" "-257681" "0" "c.-257681C>G" "r.(?)" "p.(=)" "" "0000669924" "00006723" "30" "7765" "0" "7765" "0" "c.7765A>G" "r.(?)" "p.(Ile2589Val)" "" "0000669924" "00026049" "30" "4930" "-1218" "4930" "-1218" "c.4930-1218A>G" "r.(?)" "p.(=)" "" "0000669925" "00006723" "30" "3809" "0" "3809" "0" "c.3809A>G" "r.(?)" "p.(Lys1270Arg)" "" "0000669925" "00026049" "30" "4929" "4305" "4929" "4305" "c.4929+4305A>G" "r.(?)" "p.(=)" "" "0000669926" "00006723" "30" "2841" "0" "2841" "0" "c.2841T>C" "r.(=)" "p.(=)" "" "0000669926" "00026049" "30" "4452" "0" "4452" "0" "c.4452T>C" "r.(?)" "p.(Asn1484=)" "" "0000669927" "00006723" "10" "757" "0" "757" "0" "c.757T>C" "r.(=)" "p.(=)" "" "0000669927" "00026049" "10" "2368" "0" "2368" "0" "c.2368T>C" "r.(?)" "p.(Leu790=)" "" "0000669928" "00006723" "10" "98" "0" "98" "0" "c.98T>C" "r.(?)" "p.(Leu33Ser)" "" "0000669928" "00026049" "10" "1779" "-188" "1779" "-188" "c.1779-188T>C" "r.(?)" "p.(=)" "" "0000677813" "00006723" "30" "141309" "0" "141309" "0" "c.*133359G>A" "r.(=)" "p.(=)" "" "0000677814" "00006723" "30" "131024" "0" "131024" "0" "c.*123074T>C" "r.(=)" "p.(=)" "" "0000677815" "00006723" "30" "125942" "0" "125958" "0" "c.*117992_*118008dup" "r.(=)" "p.(=)" "" "0000677817" "00006723" "50" "7624" "0" "7624" "0" "c.7624G>C" "r.(?)" "p.(Val2542Leu)" "" "0000677817" "00026049" "50" "4930" "-1359" "4930" "-1359" "c.4930-1359G>C" "r.(?)" "p.(=)" "" "0000677818" "00006723" "30" "7135" "0" "7135" "0" "c.7135G>A" "r.(?)" "p.(Ala2379Thr)" "" "0000677818" "00026049" "30" "4930" "-1848" "4930" "-1848" "c.4930-1848G>A" "r.(?)" "p.(=)" "" "0000677819" "00006723" "30" "5304" "0" "5304" "0" "c.5304T>C" "r.(?)" "p.(Thr1768=)" "" "0000677819" "00026049" "30" "4930" "-4246" "4930" "-4246" "c.4930-4246T>C" "r.(?)" "p.(=)" "" "0000677820" "00006723" "30" "-28000" "0" "-28000" "0" "c.-28000C>G" "r.(?)" "p.(=)" "" "0000689759" "00006723" "50" "130421" "0" "130421" "0" "c.*122471A>G" "r.(=)" "p.(=)" "" "0000689760" "00006723" "50" "129455" "0" "129455" "0" "c.*121505A>G" "r.(=)" "p.(=)" "" "0000689761" "00006723" "50" "129408" "0" "129408" "0" "c.*121458A>C" "r.(=)" "p.(=)" "" "0000689762" "00006723" "30" "125533" "0" "125533" "0" "c.*117583G>A" "r.(=)" "p.(=)" "" "0000689763" "00006723" "30" "125532" "0" "125532" "0" "c.*117582A>T" "r.(=)" "p.(=)" "" "0000689764" "00006723" "50" "95925" "0" "95925" "0" "c.*87975C>T" "r.(=)" "p.(=)" "" "0000689765" "00006723" "50" "68078" "0" "68079" "0" "c.*60128_*60129insTCTAGTT" "r.(=)" "p.(=)" "" "0000689766" "00006723" "50" "67919" "0" "67919" "0" "c.*59969C>T" "r.(=)" "p.(=)" "" "0000689767" "00006723" "50" "29565" "0" "29565" "0" "c.*21615G>A" "r.(=)" "p.(=)" "" "0000689768" "00006723" "30" "23238" "0" "23238" "0" "c.*15288C>T" "r.(=)" "p.(=)" "" "0000689769" "00006723" "10" "11854" "0" "11854" "0" "c.*3904C>G" "r.(=)" "p.(=)" "" "0000689770" "00006723" "50" "7544" "0" "7544" "0" "c.7544dup" "r.(?)" "p.(Gln2516AlafsTer6)" "" "0000689770" "00026049" "50" "4930" "-1439" "4930" "-1439" "c.4930-1439dup" "r.(?)" "p.(=)" "" "0000689771" "00006723" "10" "6006" "0" "6006" "0" "c.6006C>T" "r.(?)" "p.(Asn2002=)" "" "0000689771" "00026049" "10" "4930" "-3544" "4930" "-3544" "c.4930-3544C>T" "r.(?)" "p.(=)" "" "0000689772" "00006723" "30" "5153" "0" "5153" "0" "c.5153A>C" "r.(?)" "p.(Lys1718Thr)" "" "0000689772" "00026049" "30" "4930" "-4397" "4930" "-4397" "c.4930-4397A>C" "r.(?)" "p.(=)" "" "0000689773" "00006723" "50" "5035" "0" "5035" "0" "c.5035A>T" "r.(?)" "p.(Lys1679Ter)" "" "0000689773" "00026049" "50" "4930" "-4515" "4930" "-4515" "c.4930-4515A>T" "r.(?)" "p.(=)" "" "0000689774" "00006723" "30" "4992" "0" "4992" "0" "c.4992G>T" "r.(?)" "p.(Lys1664Asn)" "" "0000689774" "00026049" "30" "4930" "-4558" "4930" "-4558" "c.4930-4558G>T" "r.(?)" "p.(=)" "" "0000689775" "00006723" "50" "-208753" "0" "-208751" "0" "c.-208753_-208751del" "r.(?)" "p.(=)" "" "0000689776" "00006723" "10" "-257756" "0" "-257756" "0" "c.-257756C>T" "r.(?)" "p.(=)" "" "0000689777" "00006723" "50" "-311032" "0" "-311032" "0" "c.-311032G>A" "r.(?)" "p.(=)" "" "0000721004" "00006723" "30" "159905" "0" "159905" "0" "c.*151955A>G" "r.(=)" "p.(=)" "" "0000721005" "00006723" "50" "159865" "0" "159865" "0" "c.*151915C>T" "r.(=)" "p.(=)" "" "0000721006" "00006723" "30" "146110" "0" "146110" "0" "c.*138160G>A" "r.(=)" "p.(=)" "" "0000721007" "00006723" "50" "141395" "0" "141395" "0" "c.*133445G>A" "r.(=)" "p.(=)" "" "0000721008" "00006723" "30" "131044" "0" "131044" "0" "c.*123094A>G" "r.(=)" "p.(=)" "" "0000721009" "00006723" "50" "116815" "0" "116818" "0" "c.*108865_*108868del" "r.(=)" "p.(=)" "" "0000721010" "00006723" "30" "91133" "0" "91133" "0" "c.*83183A>G" "r.(=)" "p.(=)" "" "0000721011" "00006723" "30" "91101" "0" "91101" "0" "c.*83151T>C" "r.(=)" "p.(=)" "" "0000721012" "00006723" "50" "63038" "0" "63038" "0" "c.*55088T>G" "r.(=)" "p.(=)" "" "0000721013" "00006723" "10" "62000" "0" "62000" "0" "c.*54050G>A" "r.(=)" "p.(=)" "" "0000721014" "00006723" "50" "7225" "0" "7225" "0" "c.7225C>G" "r.(?)" "p.(Gln2409Glu)" "" "0000721014" "00026049" "50" "4930" "-1758" "4930" "-1758" "c.4930-1758C>G" "r.(?)" "p.(=)" "" "0000721015" "00006723" "30" "5892" "0" "5892" "0" "c.5892C>T" "r.(?)" "p.(Thr1964=)" "" "0000721015" "00026049" "30" "4930" "-3658" "4930" "-3658" "c.4930-3658C>T" "r.(?)" "p.(=)" "" "0000721016" "00006723" "30" "5091" "0" "5091" "0" "c.5091C>T" "r.(?)" "p.(Arg1697=)" "" "0000721016" "00026049" "30" "4930" "-4459" "4930" "-4459" "c.4930-4459C>T" "r.(?)" "p.(=)" "" "0000721017" "00006723" "50" "4249" "0" "4249" "0" "c.4249C>A" "r.(?)" "p.(Leu1417Ile)" "" "0000721017" "00026049" "50" "4929" "4745" "4929" "4745" "c.4929+4745C>A" "r.(?)" "p.(=)" "" "0000721018" "00006723" "30" "3416" "0" "3416" "0" "c.3416A>G" "r.(?)" "p.(Lys1139Arg)" "" "0000721018" "00026049" "30" "4929" "3912" "4929" "3912" "c.4929+3912A>G" "r.(?)" "p.(=)" "" "0000721019" "00006723" "10" "3220" "-3" "3220" "-3" "c.3220-3C>A" "r.spl?" "p.?" "" "0000721019" "00026049" "10" "4831" "-3" "4831" "-3" "c.4831-3C>A" "r.spl?" "p.?" "" "0000721020" "00006723" "50" "1240" "0" "1240" "0" "c.1240T>A" "r.(?)" "p.(Tyr414Asn)" "" "0000721020" "00026049" "50" "2851" "0" "2851" "0" "c.2851T>A" "r.(?)" "p.(Tyr951Asn)" "" "0000721021" "00006723" "30" "739" "0" "739" "0" "c.739C>G" "r.(?)" "p.(Pro247Ala)" "" "0000721021" "00026049" "30" "2350" "0" "2350" "0" "c.2350C>G" "r.(?)" "p.(Pro784Ala)" "" "0000721022" "00006723" "50" "-3357" "0" "-3357" "0" "c.-3357A>C" "r.(?)" "p.(=)" "" "0000802646" "00006723" "50" "164410" "0" "164410" "0" "c.*156460C>T" "r.(=)" "p.(=)" "" "0000802647" "00006723" "50" "141404" "0" "141404" "0" "c.*133454T>C" "r.(=)" "p.(=)" "" "0000802648" "00006723" "50" "131205" "0" "131205" "0" "c.*123255A>G" "r.(=)" "p.(=)" "" "0000802649" "00006723" "50" "96931" "0" "96931" "0" "c.*88981C>T" "r.(=)" "p.(=)" "" "0000802650" "00006723" "50" "91120" "0" "91120" "0" "c.*83170C>T" "r.(=)" "p.(=)" "" "0000802651" "00006723" "50" "88170" "0" "88170" "0" "c.*80220T>A" "r.(=)" "p.(=)" "" "0000802652" "00006723" "50" "70124" "0" "70124" "0" "c.*62174T>A" "r.(=)" "p.(=)" "" "0000802653" "00006723" "50" "67717" "0" "67717" "0" "c.*59767C>A" "r.(=)" "p.(=)" "" "0000802654" "00006723" "50" "66003" "0" "66003" "0" "c.*58053A>G" "r.(=)" "p.(=)" "" "0000802655" "00006723" "50" "50527" "0" "50527" "0" "c.*42577T>C" "r.(=)" "p.(=)" "" "0000802656" "00006723" "30" "29282" "0" "29282" "0" "c.*21332C>T" "r.(=)" "p.(=)" "" "0000802657" "00006723" "30" "9038" "0" "9038" "0" "c.*1088A>C" "r.(=)" "p.(=)" "" "0000802658" "00006723" "30" "7524" "0" "7524" "0" "c.7524G>T" "r.(?)" "p.(Leu2508=)" "" "0000802658" "00026049" "30" "4930" "-1459" "4930" "-1459" "c.4930-1459G>T" "r.(?)" "p.(=)" "" "0000802659" "00006723" "50" "7495" "0" "7495" "0" "c.7495C>T" "r.(?)" "p.(Arg2499Trp)" "" "0000802659" "00026049" "50" "4930" "-1488" "4930" "-1488" "c.4930-1488C>T" "r.(?)" "p.(=)" "" "0000802660" "00006723" "50" "6838" "0" "6838" "0" "c.6838C>G" "r.(?)" "p.(Gln2280Glu)" "" "0000802660" "00026049" "50" "4930" "-2145" "4930" "-2145" "c.4930-2145C>G" "r.(?)" "p.(=)" "" "0000802661" "00006723" "50" "5782" "0" "5782" "0" "c.5782C>T" "r.(?)" "p.(Arg1928Trp)" "" "0000802661" "00026049" "50" "4930" "-3768" "4930" "-3768" "c.4930-3768C>T" "r.(?)" "p.(=)" "" "0000802662" "00006723" "30" "3486" "0" "3486" "0" "c.3486G>A" "r.(?)" "p.(Pro1162=)" "" "0000802662" "00026049" "30" "4929" "3982" "4929" "3982" "c.4929+3982G>A" "r.(?)" "p.(=)" "" "0000802663" "00006723" "30" "3090" "0" "3090" "0" "c.3090A>G" "r.(?)" "p.(Glu1030=)" "" "0000802663" "00026049" "30" "4701" "0" "4701" "0" "c.4701A>G" "r.(?)" "p.(Glu1567=)" "" "0000802664" "00006723" "30" "-59195" "0" "-59195" "0" "c.-59195G>T" "r.(?)" "p.(=)" "" "0000851256" "00006723" "30" "91133" "0" "91133" "0" "c.*83183A>G" "r.(=)" "p.(=)" "" "0000851257" "00006723" "50" "71215" "0" "71215" "0" "c.*63265C>G" "r.(=)" "p.(=)" "" "0000851258" "00006723" "50" "69891" "0" "69891" "0" "c.*61941G>C" "r.(=)" "p.(=)" "" "0000851259" "00006723" "50" "63138" "0" "63138" "0" "c.*55188A>G" "r.(=)" "p.(=)" "" "0000851260" "00006723" "30" "25575" "0" "25575" "0" "c.*17625A>T" "r.(=)" "p.(=)" "" "0000851261" "00006723" "30" "18501" "0" "18501" "0" "c.*10551G>C" "r.(=)" "p.(=)" "" "0000851262" "00006723" "30" "6401" "0" "6401" "0" "c.6401C>T" "r.(?)" "p.(Thr2134Met)" "" "0000851262" "00026049" "30" "4930" "-2582" "4930" "-2582" "c.4930-2582C>T" "r.(?)" "p.(=)" "" "0000851263" "00006723" "30" "4110" "0" "4110" "0" "c.4110A>G" "r.(?)" "p.(Glu1370=)" "" "0000851263" "00026049" "30" "4929" "4606" "4929" "4606" "c.4929+4606A>G" "r.(?)" "p.(=)" "" "0000851264" "00006723" "50" "2600" "0" "2600" "0" "c.2600C>T" "r.(?)" "p.(Thr867Ile)" "" "0000851264" "00026049" "50" "4211" "0" "4211" "0" "c.4211C>T" "r.(?)" "p.(Thr1404Ile)" "" "0000851265" "00006723" "50" "776" "0" "776" "0" "c.776G>A" "r.(?)" "p.(Arg259Gln)" "" "0000851265" "00026049" "50" "2387" "0" "2387" "0" "c.2387G>A" "r.(?)" "p.(Arg796Gln)" "" "0000851266" "00006723" "30" "645" "0" "645" "0" "c.645A>T" "r.(?)" "p.(Ser215=)" "" "0000851266" "00026049" "30" "2256" "0" "2256" "0" "c.2256A>T" "r.(?)" "p.(Ser752=)" "" "0000851267" "00006723" "30" "-311761" "0" "-311761" "0" "c.-311761C>T" "r.(?)" "p.(=)" "" "0000860448" "00006723" "50" "130400" "0" "130400" "0" "c.*122450A>G" "r.(=)" "p.(=)" "" "0000860449" "00006723" "30" "129409" "0" "129409" "0" "c.*121459C>T" "r.(=)" "p.(=)" "" "0000860450" "00006723" "50" "96918" "0" "96918" "0" "c.*88968A>G" "r.(=)" "p.(=)" "" "0000860451" "00006723" "50" "95816" "0" "95816" "0" "c.*87866G>A" "r.(=)" "p.(=)" "" "0000860452" "00006723" "30" "91133" "0" "91133" "0" "c.*83183A>G" "r.(=)" "p.(=)" "" "0000860453" "00006723" "50" "86571" "0" "86571" "0" "c.*78621A>C" "r.(=)" "p.(=)" "" "0000860454" "00006723" "30" "54976" "0" "54976" "0" "c.*47026G>A" "r.(=)" "p.(=)" "" "0000860455" "00006723" "10" "49564" "0" "49564" "0" "c.*41614G>A" "r.(=)" "p.(=)" "" "0000860456" "00006723" "30" "25691" "0" "25691" "0" "c.*17741T>G" "r.(=)" "p.(=)" "" "0000860457" "00006723" "50" "13028" "0" "13028" "0" "c.*5078G>C" "r.(=)" "p.(=)" "" "0000860458" "00006723" "50" "7469" "0" "7469" "0" "c.7469T>A" "r.(?)" "p.(Ile2490Asn)" "" "0000860458" "00026049" "50" "4930" "-1514" "4930" "-1514" "c.4930-1514T>A" "r.(?)" "p.(=)" "" "0000860459" "00006723" "30" "7284" "0" "7284" "0" "c.7284A>G" "r.(?)" "p.(Thr2428=)" "" "0000860459" "00026049" "30" "4930" "-1699" "4930" "-1699" "c.4930-1699A>G" "r.(?)" "p.(=)" "" "0000860460" "00006723" "30" "6582" "0" "6582" "0" "c.6582A>C" "r.(?)" "p.(Ala2194=)" "" "0000860460" "00026049" "30" "4930" "-2401" "4930" "-2401" "c.4930-2401A>C" "r.(?)" "p.(=)" "" "0000860461" "00006723" "30" "5909" "0" "5909" "0" "c.5909T>C" "r.(?)" "p.(Phe1970Ser)" "" "0000860461" "00026049" "30" "4930" "-3641" "4930" "-3641" "c.4930-3641T>C" "r.(?)" "p.(=)" "" "0000860462" "00006723" "90" "5909" "0" "5910" "0" "c.5909_5910del" "r.(?)" "p.(Phe1970*)" "" "0000860462" "00026049" "90" "4930" "-3641" "4930" "-3640" "c.4930-3641_4930-3640del" "r.(?)" "p.(=)" "" "0000860463" "00006723" "30" "5780" "0" "5780" "0" "c.5780A>G" "r.(?)" "p.(His1927Arg)" "" "0000860463" "00026049" "30" "4930" "-3770" "4930" "-3770" "c.4930-3770A>G" "r.(?)" "p.(=)" "" "0000860464" "00006723" "30" "5360" "0" "5360" "0" "c.5360C>G" "r.(?)" "p.(Ser1787Cys)" "" "0000860464" "00026049" "30" "4930" "-4190" "4930" "-4190" "c.4930-4190C>G" "r.(?)" "p.(=)" "" "0000860465" "00006723" "50" "4876" "0" "4876" "0" "c.4876C>T" "r.(?)" "p.(Arg1626Cys)" "" "0000860465" "00026049" "50" "4930" "-4674" "4930" "-4674" "c.4930-4674C>T" "r.(?)" "p.(=)" "" "0000860466" "00006723" "30" "3848" "0" "3848" "0" "c.3848A>G" "r.(?)" "p.(Asn1283Ser)" "" "0000860466" "00026049" "30" "4929" "4344" "4929" "4344" "c.4929+4344A>G" "r.(?)" "p.(=)" "" "0000860467" "00006723" "30" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447Gln)" "" "0000860467" "00026049" "30" "2951" "0" "2951" "0" "c.2951G>A" "r.(?)" "p.(Arg984Gln)" "" "0000860468" "00006723" "30" "-257792" "0" "-257792" "0" "c.-257792A>G" "r.(?)" "p.(=)" "" "0000887347" "00006723" "30" "141279" "0" "141280" "0" "c.*133329_*133330insTGTGTGTGTGTGTGTGTGTGTG" "r.(=)" "p.(=)" "" "0000887348" "00006723" "30" "136292" "0" "136292" "0" "c.*128342C>T" "r.(=)" "p.(=)" "" "0000887349" "00006723" "30" "116808" "0" "116808" "0" "c.*108858T>G" "r.(=)" "p.(=)" "" "0000887350" "00006723" "30" "113662" "0" "113662" "0" "c.*105712C>G" "r.(=)" "p.(=)" "" "0000887351" "00006723" "50" "106162" "0" "106162" "0" "c.*98212A>G" "r.(=)" "p.(=)" "" "0000887352" "00006723" "30" "71170" "0" "71170" "0" "c.*63220A>T" "r.(=)" "p.(=)" "" "0000887353" "00006723" "30" "67945" "0" "67945" "0" "c.*59995T>C" "r.(=)" "p.(=)" "" "0000887354" "00006723" "10" "62000" "0" "62000" "0" "c.*54050G>A" "r.(=)" "p.(=)" "" "0000887355" "00006723" "50" "61270" "0" "61270" "0" "c.*53320G>T" "r.(=)" "p.(=)" "" "0000887356" "00006723" "50" "49666" "0" "49666" "0" "c.*41716A>C" "r.(=)" "p.(=)" "" "0000887357" "00006723" "30" "25691" "0" "25691" "0" "c.*17741T>G" "r.(=)" "p.(=)" "" "0000887358" "00006723" "50" "25624" "0" "25624" "0" "c.*17674T>C" "r.(=)" "p.(=)" "" "0000887359" "00006723" "30" "21986" "0" "21986" "0" "c.*14036A>G" "r.(=)" "p.(=)" "" "0000887360" "00006723" "30" "17179" "0" "17179" "0" "c.*9229C>T" "r.(=)" "p.(=)" "" "0000887361" "00006723" "50" "5951" "0" "5951" "0" "c.5951A>G" "r.(?)" "p.(Lys1984Arg)" "" "0000887361" "00026049" "50" "4930" "-3599" "4930" "-3599" "c.4930-3599A>G" "r.(?)" "p.(=)" "" "0000887362" "00006723" "30" "5095" "0" "5095" "0" "c.5095G>A" "r.(?)" "p.(Glu1699Lys)" "" "0000887362" "00026049" "30" "4930" "-4455" "4930" "-4455" "c.4930-4455G>A" "r.(?)" "p.(=)" "" "0000887363" "00006723" "30" "3220" "-3" "3220" "-3" "c.3220-3C>A" "r.spl?" "p.?" "" "0000887363" "00026049" "30" "4831" "-3" "4831" "-3" "c.4831-3C>A" "r.spl?" "p.?" "" "0000887364" "00006723" "50" "3116" "0" "3116" "0" "c.3116A>G" "r.(?)" "p.(Tyr1039Cys)" "" "0000887364" "00026049" "50" "4727" "0" "4727" "0" "c.4727A>G" "r.(?)" "p.(Tyr1576Cys)" "" "0000887365" "00006723" "50" "2036" "0" "2036" "0" "c.2036A>G" "r.(?)" "p.(His679Arg)" "" "0000887365" "00026049" "50" "3647" "0" "3647" "0" "c.3647A>G" "r.(?)" "p.(His1216Arg)" "" "0000887366" "00006723" "30" "795" "0" "795" "0" "c.795T>G" "r.(?)" "p.(Ser265=)" "" "0000887366" "00026049" "30" "2406" "0" "2406" "0" "c.2406T>G" "r.(?)" "p.(Ser802=)" "" "0000887367" "00006723" "50" "-61527" "0" "-61527" "0" "c.-61527A>G" "r.(?)" "p.(=)" "" "0000887368" "00006723" "30" "-208821" "0" "-208821" "0" "c.-208821T>C" "r.(?)" "p.(=)" "" "0000912553" "00006723" "10" "152345" "0" "152345" "0" "c.*144395T>C" "r.(=)" "p.(=)" "" "0000912554" "00006723" "10" "69866" "0" "69866" "0" "c.*61916A>G" "r.(=)" "p.(=)" "" "0000912555" "00006723" "10" "5485" "0" "5485" "0" "c.5485C>G" "r.(?)" "p.(Gln1829Glu)" "" "0000912555" "00026049" "10" "4930" "-4065" "4930" "-4065" "c.4930-4065C>G" "r.(?)" "p.(=)" "" "0000912556" "00006723" "10" "4289" "0" "4289" "0" "c.4289C>T" "r.(?)" "p.(Ala1430Val)" "" "0000912556" "00026049" "10" "4929" "4785" "4929" "4785" "c.4929+4785C>T" "r.(?)" "p.(=)" "" "0000912557" "00006723" "50" "1018" "0" "1018" "0" "c.1018A>G" "r.(?)" "p.(Thr340Ala)" "" "0000912557" "00026049" "50" "2629" "0" "2629" "0" "c.2629A>G" "r.(?)" "p.(Thr877Ala)" "" "0000924541" "00006723" "30" "159866" "0" "159866" "0" "c.*151916G>A" "r.(=)" "p.(=)" "" "0000924542" "00006723" "30" "159859" "0" "159859" "0" "c.*151909C>T" "r.(=)" "p.(=)" "" "0000924543" "00006723" "30" "146110" "0" "146110" "0" "c.*138160G>A" "r.(=)" "p.(=)" "" "0000924544" "00006723" "30" "141309" "0" "141309" "0" "c.*133359G>A" "r.(=)" "p.(=)" "" "0000924545" "00006723" "50" "95925" "0" "95925" "0" "c.*87975C>T" "r.(=)" "p.(=)" "" "0000924546" "00006723" "50" "50439" "0" "50439" "0" "c.*42489A>G" "r.(=)" "p.(=)" "" "0000924547" "00006723" "50" "4177" "0" "4177" "0" "c.4177C>A" "r.(?)" "p.(Gln1393Lys)" "" "0000924547" "00026049" "50" "4929" "4673" "4929" "4673" "c.4929+4673C>A" "r.(?)" "p.(=)" "" "0000924548" "00006723" "50" "1148" "0" "1148" "0" "c.1148C>G" "r.(?)" "p.(Thr383Ser)" "" "0000924548" "00026049" "50" "2759" "0" "2759" "0" "c.2759C>G" "r.(?)" "p.(Thr920Ser)" "" "0000929208" "00006723" "30" "119483" "0" "119483" "0" "c.*111533G>A" "r.(=)" "p.(=)" "" "0000929209" "00006723" "30" "29714" "0" "29714" "0" "c.*21764C>T" "r.(=)" "p.(=)" "" "0000929210" "00006723" "30" "17885" "0" "17885" "0" "c.*9935T>C" "r.(=)" "p.(=)" "" "0000929211" "00006723" "30" "14532" "0" "14532" "0" "c.*6582A>C" "r.(=)" "p.(=)" "" "0000929212" "00006723" "30" "7205" "0" "7205" "0" "c.7205A>G" "r.(?)" "p.(Asn2402Ser)" "" "0000929212" "00026049" "30" "4930" "-1778" "4930" "-1778" "c.4930-1778A>G" "r.(?)" "p.(=)" "" "0000929213" "00006723" "30" "5095" "0" "5095" "0" "c.5095G>A" "r.(?)" "p.(Glu1699Lys)" "" "0000929213" "00026049" "30" "4930" "-4455" "4930" "-4455" "c.4930-4455G>A" "r.(?)" "p.(=)" "" "0000929214" "00006723" "30" "2352" "7" "2352" "7" "c.2352+7G>A" "r.(=)" "p.(=)" "" "0000929214" "00026049" "30" "3963" "7" "3963" "7" "c.3963+7G>A" "r.(?)" "p.(=)" "" "0000929215" "00006723" "30" "2194" "17" "2194" "17" "c.2194+17C>T" "r.(=)" "p.(=)" "" "0000929215" "00026049" "30" "3805" "17" "3805" "17" "c.3805+17C>T" "r.(?)" "p.(=)" "" "0000929216" "00006723" "30" "-3134" "0" "-3134" "0" "c.-3134G>A" "r.(?)" "p.(=)" "" "0000948721" "00006723" "50" "116995" "0" "116995" "0" "c.*109045G>A" "r.(=)" "p.(=)" "" "0000948722" "00006723" "30" "107783" "0" "107783" "0" "c.*99833T>C" "r.(=)" "p.(=)" "" "0000948723" "00006723" "30" "29537" "0" "29537" "0" "c.*21587A>G" "r.(=)" "p.(=)" "" "0000948724" "00006723" "50" "29385" "0" "29385" "0" "c.*21435A>G" "r.(=)" "p.(=)" "" "0000948725" "00006723" "30" "25575" "0" "25575" "0" "c.*17625A>T" "r.(=)" "p.(=)" "" "0000948726" "00006723" "10" "19640" "0" "19640" "0" "c.*11690C>T" "r.(=)" "p.(=)" "" "0000948727" "00006723" "10" "19282" "0" "19282" "0" "c.*11332G>A" "r.(=)" "p.(=)" "" "0000948728" "00006723" "10" "18167" "0" "18167" "0" "c.*10217A>C" "r.(=)" "p.(=)" "" "0000948729" "00006723" "10" "17179" "0" "17179" "0" "c.*9229C>T" "r.(=)" "p.(=)" "" "0000948730" "00006723" "10" "16467" "0" "16467" "0" "c.*8517A>G" "r.(=)" "p.(=)" "" "0000948731" "00006723" "50" "14697" "0" "14697" "0" "c.*6747C>T" "r.(=)" "p.(=)" "" "0000948732" "00006723" "10" "14675" "0" "14675" "0" "c.*6725A>T" "r.(=)" "p.(=)" "" "0000948733" "00006723" "30" "1353" "16" "1353" "16" "c.1353+16G>A" "r.(=)" "p.(=)" "" "0000948733" "00026049" "30" "2964" "16" "2964" "16" "c.2964+16G>A" "r.(?)" "p.(=)" "" "0000948734" "00006723" "50" "1094" "0" "1094" "0" "c.1094C>G" "r.(?)" "p.(Ser365Cys)" "" "0000948734" "00026049" "50" "2705" "0" "2705" "0" "c.2705C>G" "r.(?)" "p.(Ser902Cys)" "" "0000964184" "00006723" "30" "20244" "0" "20244" "0" "c.*12294T>G" "r.(=)" "p.(=)" "" "0000964185" "00006723" "30" "18677" "0" "18677" "0" "c.*10727G>A" "r.(=)" "p.(=)" "" "0000977307" "00006723" "50" "121863" "0" "121863" "0" "c.*113913G>C" "r.(=)" "p.(=)" "" "0000977308" "00006723" "50" "25497" "0" "25497" "0" "c.*17547A>G" "r.(=)" "p.(=)" "" "0000977309" "00006723" "50" "7449" "0" "7449" "0" "c.7449A>G" "r.(?)" "p.(=)" "" "0000977309" "00026049" "50" "4930" "-1534" "4930" "-1534" "c.4930-1534A>G" "r.(?)" "p.(=)" "" "0000977310" "00006723" "30" "7107" "0" "7107" "0" "c.7107T>G" "r.(?)" "p.(=)" "" "0000977310" "00026049" "30" "4930" "-1876" "4930" "-1876" "c.4930-1876T>G" "r.(?)" "p.(=)" "" "0000995822" "00006723" "30" "121895" "0" "121895" "0" "c.*113945T>C" "r.(=)" "p.(=)" "" "0000995823" "00006723" "50" "119441" "0" "119441" "0" "c.*111491A>G" "r.(=)" "p.(=)" "" "0000995824" "00006723" "50" "119388" "0" "119388" "0" "c.*111438A>C" "r.(=)" "p.(=)" "" "0000995825" "00006723" "30" "113751" "0" "113751" "0" "c.*105801A>G" "r.(=)" "p.(=)" "" "0000995826" "00006723" "30" "105930" "0" "105930" "0" "c.*97980G>T" "r.(=)" "p.(=)" "" "0000995827" "00006723" "30" "93802" "0" "93802" "0" "c.*85852G>A" "r.(=)" "p.(=)" "" "0000995828" "00006723" "30" "71170" "0" "71170" "0" "c.*63220A>T" "r.(=)" "p.(=)" "" "0000995829" "00006723" "50" "70709" "0" "70709" "0" "c.*62759A>G" "r.(=)" "p.(=)" "" "0000995830" "00006723" "30" "70162" "0" "70162" "0" "c.*62212G>A" "r.(=)" "p.(=)" "" "0000995831" "00006723" "30" "21986" "0" "21986" "0" "c.*14036A>G" "r.(=)" "p.(=)" "" "0000995832" "00006723" "30" "20059" "0" "20059" "0" "c.*12109G>A" "r.(=)" "p.(=)" "" "0000995833" "00006723" "30" "18663" "0" "18663" "0" "c.*10713T>C" "r.(=)" "p.(=)" "" "0000995834" "00006723" "70" "5554" "0" "5554" "0" "c.5554C>T" "r.(?)" "p.(Gln1852*)" "" "0000995834" "00026049" "70" "4930" "-3996" "4930" "-3996" "c.4930-3996C>T" "r.(?)" "p.(=)" "" "0000995835" "00006723" "90" "5035" "0" "5035" "0" "c.5035A>T" "r.(?)" "p.(Lys1679Ter)" "" "0000995835" "00026049" "90" "4930" "-4515" "4930" "-4515" "c.4930-4515A>T" "r.(?)" "p.(=)" "" "0000995836" "00006723" "10" "5013" "0" "5013" "0" "c.5013C>A" "r.(?)" "p.(Asn1671Lys)" "" "0000995836" "00026049" "10" "4930" "-4537" "4930" "-4537" "c.4930-4537C>A" "r.(?)" "p.(=)" "" "0000995837" "00006723" "30" "4729" "0" "4729" "0" "c.4729G>A" "r.(?)" "p.(Glu1577Lys)" "" "0000995837" "00026049" "30" "4930" "-4821" "4930" "-4821" "c.4930-4821G>A" "r.(?)" "p.(=)" "" "0000995838" "00006723" "30" "3848" "0" "3848" "0" "c.3848A>G" "r.(?)" "p.(Asn1283Ser)" "" "0000995838" "00026049" "30" "4929" "4344" "4929" "4344" "c.4929+4344A>G" "r.(?)" "p.(=)" "" "0000995839" "00006723" "10" "3590" "0" "3590" "0" "c.3590G>A" "r.(?)" "p.(Arg1197His)" "" "0000995839" "00026049" "10" "4929" "4086" "4929" "4086" "c.4929+4086G>A" "r.(?)" "p.(=)" "" "0000995840" "00006723" "30" "3589" "0" "3589" "0" "c.3589C>T" "r.(?)" "p.(Arg1197Cys)" "" "0000995840" "00026049" "30" "4929" "4085" "4929" "4085" "c.4929+4085C>T" "r.(?)" "p.(=)" "" "0000995841" "00006723" "50" "1376" "0" "1376" "0" "c.1376C>T" "r.(?)" "p.(Thr459Met)" "" "0000995841" "00026049" "50" "2987" "0" "2987" "0" "c.2987C>T" "r.(?)" "p.(Thr996Met)" "" "0000995842" "00006723" "30" "659" "0" "659" "0" "c.659G>T" "r.(?)" "p.(Arg220Leu)" "" "0000995842" "00026049" "30" "2270" "0" "2270" "0" "c.2270G>T" "r.(?)" "p.(Arg757Leu)" "" "0000995843" "00006723" "30" "-208824" "0" "-208824" "0" "c.-208824C>A" "r.(?)" "p.(=)" "" "0001014228" "00006723" "50" "31242" "0" "31242" "0" "c.*23292C>T" "r.(=)" "p.(=)" "" "0001014229" "00006723" "10" "15346" "0" "15346" "0" "c.*7396A>G" "r.(=)" "p.(=)" "" "0001025246" "00006723" "30" "67641" "0" "67641" "0" "c.*59691A>G" "r.(=)" "p.(=)" "" "0001025247" "00006723" "50" "5930" "0" "5930" "0" "c.5930C>G" "r.(?)" "p.(Thr1977Arg)" "" "0001025247" "00026049" "50" "4930" "-3620" "4930" "-3620" "c.4930-3620C>G" "r.(?)" "p.(=)" "" "0001025248" "00006723" "50" "1510" "0" "1510" "0" "c.1510C>T" "r.(?)" "p.(Arg504Trp)" "" "0001025248" "00026049" "50" "3121" "0" "3121" "0" "c.3121C>T" "r.(?)" "p.(Arg1041Trp)" "" "0001035853" "00006723" "30" "164411" "0" "164411" "0" "c.*156461G>A" "r.(=)" "p.(=)" "" "0001035854" "00006723" "50" "62083" "0" "62083" "0" "c.*54133A>G" "r.(=)" "p.(=)" "" "0001035855" "00006723" "30" "50439" "0" "50439" "0" "c.*42489A>G" "r.(=)" "p.(=)" "" "0001035856" "00006723" "30" "24894" "0" "24894" "0" "c.*16944C>A" "r.(=)" "p.(=)" "" "0001035858" "00006723" "50" "16597" "0" "16597" "0" "c.*8647T>G" "r.(=)" "p.(=)" "" "0001035859" "00006723" "50" "16080" "0" "16080" "0" "c.*8130A>G" "r.(=)" "p.(=)" "" "0001035860" "00006723" "30" "3319" "-4" "3319" "-4" "c.3319-4G>A" "r.spl?" "p.?" "" "0001035860" "00026049" "30" "4929" "3811" "4929" "3811" "c.4929+3811G>A" "r.spl?" "p.?" "" "0001035861" "00006723" "30" "3220" "-3" "3220" "-3" "c.3220-3C>A" "r.spl?" "p.?" "" "0001035861" "00026049" "30" "4831" "-3" "4831" "-3" "c.4831-3C>A" "r.spl?" "p.?" "" "0001035862" "00006723" "50" "923" "0" "923" "0" "c.923T>G" "r.(?)" "p.(Val308Gly)" "" "0001035862" "00026049" "50" "2534" "0" "2534" "0" "c.2534T>G" "r.(?)" "p.(Val845Gly)" "" "0001035863" "00006723" "50" "-208626" "0" "-208626" "0" "c.-208626C>T" "r.(?)" "p.(=)" "" "0001046072" "00006723" "30" "9050" "0" "9050" "0" "c.*1100A>T" "r.(=)" "p.(=)" "" "0001046073" "00006723" "30" "1094" "0" "1094" "0" "c.1094C>G" "r.(?)" "p.(Ser365Cys)" "" "0001046073" "00026049" "30" "2705" "0" "2705" "0" "c.2705C>G" "r.(?)" "p.(Ser902Cys)" "" "0001046074" "00006723" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" "" "0001046074" "00026049" "90" "1779" "-222" "1779" "-222" "c.1779-222C>T" "r.(?)" "p.(=)" "" "0001052401" "00006723" "50" "29296" "0" "29296" "0" "c.*21346C>T" "r.(=)" "p.(=)" "" "0001052402" "00006723" "50" "14739" "0" "14739" "0" "c.*6789T>A" "r.(=)" "p.(=)" "" "0001064566" "00006723" "50" "157312" "0" "157312" "0" "c.*149362G>A" "r.(=)" "p.(=)" "" "0001064567" "00006723" "50" "96900" "0" "96900" "0" "c.*88950G>A" "r.(=)" "p.(=)" "" "0001064568" "00006723" "50" "6047" "0" "6048" "0" "c.6047_6048dup" "r.(?)" "p.(Ile2017Argfs*2)" "" "0001064568" "00026049" "50" "4930" "-3503" "4930" "-3502" "c.4930-3503_4930-3502dup" "r.(?)" "p.(=)" "" "0001068637" "00006723" "10" "53553" "0" "53553" "0" "c.*45603C>A" "r.(=)" "p.(=)" "" "0001068650" "00006723" "30" "15505" "0" "15505" "0" "c.*7555C>T" "r.(=)" "p.(=)" "" "0001068651" "00006723" "50" "-3357" "0" "-3357" "0" "c.-3357A>C" "r.(=)" "p.(=)" "" "0001069448" "00026049" "50" "1024" "0" "1024" "0" "c.1024T>C" "r.(?)" "p.(Trp342Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000295325" "0000652014" "0000295326" "0000652015" "0000295327" "0000652016" "0000295328" "0000652017" "0000295329" "0000652018" "0000295330" "0000652019" "0000295331" "0000652020" "0000295332" "0000652021" "0000306236" "0000669924" "0000306237" "0000669925" "0000306238" "0000669926" "0000306239" "0000669927" "0000306240" "0000669928" "0000474341" "0001068637" "0000474341" "0001068650" "0000474341" "0001068651" "0000475051" "0001069448"