### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MCPH1) # 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}}" "MCPH1" "microcephalin 1" "8" "p23.1" "unknown" "NC_000008.10" "UD_132118842730" "" "https://www.LOVD.nl/MCPH1" "" "1" "6954" "79648" "607117" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/MCPH1_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2012-05-01 00:00:00" "00006" "2023-03-13 19:42:05" "00000" "2025-05-05 21:14:00" ## 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}}" "00000153" "MCPH1" "microcephalin 1, transcript variant 1 (expired, new version available)" "001" "NM_024596.2" "" "NP_078872.2" "" "" "" "-76" "3078" "2508" "6264113" "6501140" "00002" "2012-05-11 13:12:16" "" "" "00025819" "MCPH1" "transcript variant 1" "001" "NM_024596.3" "" "NP_078872.2" "" "" "" "-76" "3078" "2508" "6264113" "6501140" "00006" "2023-03-13 19:42:40" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00393" "MCPH1" "microcephaly, type 1, primary, autosomal recessive (MCPH-1)" "AR" "251200" "" "" "" "00006" "2014-05-30 09:28:05" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05153" "MCPH" "microcephaly, primary, autosomal recessive (MCPH)" "" "" "" "" "" "00006" "2016-04-14 15:50:58" "00006" "2016-07-05 08:24:40" "05330" "TSC" "tuberous sclerosis" "" "" "" "" "" "00006" "2017-09-19 09:35:08" "00006" "2022-08-19 09:49:37" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MCPH1" "00139" "MCPH1" "00393" "MCPH1" "05153" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00000019" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00150178" "" "" "" "2" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB3640" "00294654" "" "" "" "39" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00361572" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "11DG1811" "00433354" "" "" "" "1" "" "00006" "{PMID:Duerinckx 2021: 34402213}" "patient" "F" "yes" "Belgium" "" "0" "" "" "" "Pat23" "00433355" "" "" "" "1" "" "00006" "{PMID:Duerinckx 2021: 34402213}" "patient" "M" "yes" "Morocco" "" "0" "" "" "" "Pat24" "00433356" "" "" "" "1" "" "00006" "{PMID:Duerinckx 2021: 34402213}" "patient" "F" "yes" "Turkey" "" "0" "" "" "" "Pat25" "00433359" "" "" "" "3" "" "00006" "{PMID:Duerinckx 2018:29693325}, {PMID:Duerinckx 2021: 34402213}" "2-generation family, affected sister/brother" "F" "yes" "Morocco" "" "0" "" "" "" "FamPatII1/3;Pat28" "00433370" "" "" "00433359" "1" "" "00006" "{PMID:Duerinckx 2018:29693325}" "unaffected sister" "F" "yes" "Morocco" "" "0" "" "" "" "FamPatII2" "00433721" "" "" "" "6" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 6 affected" "" "yes" "Iran" "" "0" "" "" "" "M-019" "00433722" "" "" "" "2" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 2 affected" "" "yes" "Iran" "" "0" "" "" "" "M-282" "00433723" "" "" "" "3" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 3 affected" "" "yes" "Iran" "" "0" "" "" "" "M-8600133" "00433724" "" "" "" "3" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 3 affected" "" "yes" "Iran" "" "0" "" "" "" "M-8700008" "00433725" "" "" "" "2" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 2 affected" "" "yes" "Iran" "" "0" "" "" "" "M-8700012" "00433726" "" "" "" "4" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 4 affected" "" "yes" "Iran" "" "0" "" "" "" "M-8700070" "00433727" "" "" "" "2" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 2 affected" "" "yes" "Iran" "" "0" "" "" "" "M-8700071" "00433728" "" "" "" "3" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 3 affected" "" "yes" "Iran" "" "0" "" "" "" "M-8700173" "00433755" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP61" "00433888" "" "" "" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "family" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC4PatIII3" "00433947" "" "" "" "7" "" "00006" "{PMID:Ahmad 2017:28004384}" "5-generation family, 7 affected (F, 6M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Punjab" "MCP118" "00433951" "" "" "" "3" "" "00006" "{PMID:Ahmad 2017:28004384}" "5-generation family, 3 affected (3M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "Baloch" "MCP125" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00000019" "00138" "00000019" "05330" "00000019" "05378" "00000208" "01157" "00150178" "00198" "00294654" "00198" "00361572" "00139" "00433354" "05421" "00433355" "05421" "00433356" "05421" "00433359" "05421" "00433370" "00000" "00433721" "05421" "00433722" "05421" "00433723" "05421" "00433724" "05421" "00433725" "05421" "00433726" "05421" "00433727" "05421" "00433728" "05421" "00433755" "05421" "00433888" "05421" "00433947" "05421" "00433951" "05421" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00138, 00139, 00198, 00393, 01157, 05153, 05330, 05378, 05421 ## Count = 19 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Seizures}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "" "3w" "" "" "" "" "" "" "" "" "" "" "" "" "0000122580" "00198" "00150178" "00006" "Familial, autosomal recessive" "" "schizencephaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000256977" "00139" "00361572" "00006" "Familial, autosomal recessive" "15y2m" "not syndromic; global developmental delay and primary microcephaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000323875" "05421" "00433354" "00006" "Familial, autosomal recessive" "13y" "primary microcephaly; birth OFC (SD-3), weigth median, length (SD-1); OFC (SD-5.5), weigth (SD+0.5), length (SD-1); no epilepsy; severe intellectual disability; MRI enlarged ventricles, delayed myelinization; birth OFC (SD-3), weigth median, length (SD-1); OFC (SD-5.5), weigth (SD+0.5), length (SD-1); no epilepsy; severe intellectual disability; MRI enlarged ventricles, delayed myelinization" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323876" "05421" "00433355" "00006" "Familial, autosomal recessive" "15y" "primary microcephaly; birth OFC (SD-2.5), weigth (SD-1), length (SD-3); OFC (SD-9), weigth (SD-2.5), length (SD-4.5); no epilepsy; IQ<42 (Terman‐Merill); MRI simplified pattern; birth OFC (SD-2.5), weigth (SD-1), length (SD-3); OFC (SD-9), weigth (SD-2.5), length (SD-4.5); no epilepsy; IQ<42 (Terman‐Merill); MRI simplified pattern" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323877" "05421" "00433356" "00006" "Familial, autosomal recessive" "6y" "primary microcephaly; birth OFC (SD-5), weigth (SD-2), length (SD-3); OFC (SD-6), weigth (SD-1), length (SD-0.5); no epilepsy; IQ63 (WPPSI‐R); MRI simplified pattern, multiple grey matter ectopias, cyst of the Rathke pouch; birth OFC (SD-5), weigth (SD-2), length (SD-3); OFC (SD-6), weigth (SD-1), length (SD-0.5); no epilepsy; IQ63 (WPPSI‐R); MRI simplified pattern, multiple grey matter ectopias, cyst of the Rathke pouch" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323880" "05421" "00433359" "00006" "Familial, autosomal recessive" "13y" "primary microcephaly, hyperkinesia; OFC (SD-4), weigth (SD-1), length (SD-2); 8y-generalized, tonic‐clonic, treatment VPA; severe intellectual disability, no speech; MRI atrophy of the corpus callosum and cerebellum, abnormal signals in the supratentorial white matter; OFC (SD-4), weigth (SD-1), length (SD-2); 8y-generalized, tonic‐clonic, treatment VPA; severe intellectual disability, no speech; MRI atrophy of the corpus callosum and cerebellum, abnormal signals in the supratentorial white matter" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000324143" "05421" "00433721" "00006" "Familial, autosomal recessive" "" "moderate intellectual disability; microcephaly (OFC -3SD)" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH1" "microcephaly" "" "0000324144" "05421" "00433722" "00006" "Familial, autosomal recessive" "" "moderate intellectual disability; microcephaly (OFC -10 to -11SD)" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH1" "microcephaly" "" "0000324145" "05421" "00433723" "00006" "Familial, autosomal recessive" "" "moderate intellectual disability; microcephaly (OFC -6SD)" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH1" "microcephaly" "" "0000324146" "05421" "00433724" "00006" "Familial, autosomal recessive" "" "mild/moderate intellectual disability; microcephaly (OFC -6 to -8SD)" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH1" "microcephaly" "" "0000324147" "05421" "00433725" "00006" "Familial, autosomal recessive" "" "severe intellectual disability; microcephaly (OFC -9SD)" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH1" "microcephaly" "" "0000324148" "05421" "00433726" "00006" "Familial, autosomal recessive" "" "moderate intellectual disability; microcephaly (OFC -7 to -9SD)" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH1" "microcephaly" "" "0000324149" "05421" "00433727" "00006" "Familial, autosomal recessive" "" "mild/moderate intellectual disability; microcephaly (OFC -6 to -10SD)" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH1" "microcephaly" "" "0000324150" "05421" "00433728" "00006" "Familial, autosomal recessive" "" "mild/moderate intellectual disability; microcephaly (OFC -6 to -7SD)" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH1" "microcephaly" "" "0000324177" "05421" "00433755" "00006" "Familial, autosomal recessive" "" "microcephaly; aggressive behavior, speech not understandable, no seizure, normal height, normal weight" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH1" "microcephaly" "" "0000324266" "05421" "00433888" "00006" "Familial, autosomal recessive" "27y" "microcephaly, OFC 49cm (SD-5,04); very mild intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH1" "microcephaly" "" "0000324325" "05421" "00433947" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-6 to -7; mild mental retardation, self-care skills, socially active and friendly behavior, no limb and digital malformations, normal height and weight, normal motor skills, EEG MCP118-6 showed generalized sharp spike wave complex only on one occasion" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH1" "microcephaly" "" "0000324329" "05421" "00433951" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-6 to -7; mild mental retardation, self-care, frustration level high, partly self care skills, normal motor skills, normal height, no digital and limb malformations" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH1" "microcephaly" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000019" "00000019" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000151033" "00150178" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000295822" "00294654" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000362800" "00361572" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000434808" "00433354" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434809" "00433355" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434810" "00433356" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434813" "00433359" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434824" "00433370" "1" "00006" "00006" "2023-03-06 15:07:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435179" "00433721" "1" "00006" "00006" "2023-03-13 19:58:30" "" "" "SEQ" "DNA" "" "" "0000435180" "00433722" "1" "00006" "00006" "2023-03-13 19:58:30" "" "" "SEQ" "DNA" "" "" "0000435181" "00433723" "1" "00006" "00006" "2023-03-13 19:58:30" "" "" "SEQ" "DNA" "" "" "0000435182" "00433724" "1" "00006" "00006" "2023-03-13 19:58:30" "" "" "SEQ" "DNA" "" "" "0000435183" "00433725" "1" "00006" "00006" "2023-03-13 19:58:30" "" "" "SEQ" "DNA" "" "" "0000435184" "00433726" "1" "00006" "00006" "2023-03-13 19:58:30" "" "" "SEQ" "DNA" "" "" "0000435185" "00433727" "1" "00006" "00006" "2023-03-13 19:58:30" "" "" "SEQ" "DNA" "" "" "0000435186" "00433728" "1" "00006" "00006" "2023-03-13 19:58:30" "" "" "SEQ" "DNA" "" "" "0000435217" "00433755" "1" "00006" "00006" "2023-03-14 15:45:46" "" "" "SEQ" "DNA" "" "" "0000435351" "00433888" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435410" "00433947" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435414" "00433951" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{geneid}}" "0000000019" "AFF2" "0000000019" "ALG12" "0000000019" "ALG6" "0000000019" "B3GLCT" "0000000019" "B4GALT1" "0000000019" "BBS12" "0000000019" "CDK5RAP2" "0000000019" "CENPJ" "0000000019" "CRBN" "0000000019" "DHCR7" "0000000019" "EP300" "0000000019" "IL1RAPL1" "0000000019" "KDM5C" "0000000019" "KRAS" "0000000019" "MCPH1" "0000000019" "MED12" "0000000019" "NSD1" "0000000019" "NUFIP1" "0000000019" "POMT1" "0000000019" "RAB3GAP2" "0000000019" "RAF1" "0000000019" "SATB2" "0000000019" "SCN8A" "0000000019" "SIL1" "0000000019" "TSC1" "0000151033" "MCPH1" "0000362800" "MCPH1" "0000435179" "MCPH1" "0000435180" "MCPH1" "0000435181" "MCPH1" "0000435182" "MCPH1" "0000435183" "MCPH1" "0000435184" "MCPH1" "0000435185" "MCPH1" "0000435186" "MCPH1" "0000435217" "MCPH1" "0000435351" "MCPH1" "0000435351" "STIL" "0000435410" "MCPH1" "0000435414" "MCPH1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 164 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000001263" "1" "50" "8" "6303025" "6303025" "subst" "0.262334" "00002" "MCPH1_000001" "g.6303025G>A" "" "{PMID:Almomani 2011:21102627} {dbSNP:2584}" "" "" "" "Germline" "" "" "" "" "" "g.6445504G>A" "" "VUS" "" "0000004585" "3" "50" "8" "6306024" "6306024" "subst" "0" "00037" "MCPH1_000002" "g.6306024G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6448503G>A" "" "VUS" "" "0000244196" "3" "90" "8" "6293674" "6293674" "dup" "0" "00006" "MCPH1_000003" "g.6293674dup" "" "{PMID:Karaca 2015:26539891}" "" "NM_024596: c.421_422insA; p.Q141fs" "" "Germline" "" "" "0" "" "" "g.6436153dup" "" "pathogenic" "" "0000246697" "0" "10" "8" "6371291" "6371291" "subst" "0.0777568" "02330" "MCPH1_000038" "g.6371291A>G" "" "" "" "ANGPT2(NM_001147.3):c.1107T>C (p.Y369=), MCPH1(NM_024596.5):c.2214+13841A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6513770A>G" "" "benign" "" "0000246732" "0" "10" "8" "6390027" "6390027" "subst" "0.368339" "02330" "MCPH1_000061" "g.6390027A>G" "" "" "" "ANGPT2(NM_001147.3):c.289-19T>C, MCPH1(NM_024596.5):c.2214+32577A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6532506A>G" "" "benign" "" "0000247980" "0" "10" "8" "6302418" "6302418" "subst" "0.998216" "02325" "MCPH1_000024" "g.6302418A>G" "" "" "" "MCPH1(NM_001172574.2):c.1175A>G (p.D392G), MCPH1(NM_024596.4):c.1175A>G (p.D392G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444897A>G" "" "benign" "" "0000253241" "0" "10" "8" "6302418" "6302418" "subst" "0.998216" "01943" "MCPH1_000024" "g.6302418A>G" "" "" "" "MCPH1(NM_001172574.2):c.1175A>G (p.D392G), MCPH1(NM_024596.4):c.1175A>G (p.D392G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444897A>G" "" "benign" "" "0000253728" "0" "10" "8" "6302232" "6302232" "subst" "0.000825861" "01943" "MCPH1_000022" "g.6302232A>G" "" "" "" "MCPH1(NM_001322042.1):c.989A>G (p.Y330C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444711A>G" "" "benign" "" "0000253824" "0" "10" "8" "6266785" "6266785" "subst" "0.0100085" "01943" "MCPH1_000057" "g.6266785A>G" "" "" "" "MCPH1(NM_024596.4):c.23-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6409264A>G" "" "benign" "" "0000254375" "0" "30" "8" "6302469" "6302469" "subst" "0.000235604" "01943" "MCPH1_000060" "g.6302469A>T" "" "" "" "MCPH1(NM_024596.4):c.1226A>T (p.E409V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444948A>T" "" "likely benign" "" "0000254523" "0" "30" "8" "6302033" "6302033" "subst" "0.0100568" "01943" "MCPH1_000018" "g.6302033A>G" "" "" "" "MCPH1(NM_024596.4):c.790A>G (p.I264V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444512A>G" "" "likely benign" "" "0000255032" "0" "30" "8" "6479161" "6479161" "subst" "0.00256729" "01943" "MCPH1_000048" "g.6479161A>G" "" "" "" "MCPH1(NM_024596.4):c.2401A>G (p.S801G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621640A>G" "" "likely benign" "" "0000255893" "0" "50" "8" "6272353" "6272353" "subst" "0.00205923" "01943" "MCPH1_000058" "g.6272353A>G" "" "" "" "MCPH1(NM_024596.4):c.182A>G (p.D61G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6414832A>G" "" "VUS" "" "0000256159" "0" "50" "8" "6302112" "6302112" "subst" "8.12916E-6" "01943" "MCPH1_000059" "g.6302112A>G" "" "" "" "MCPH1(NM_024596.4):c.869A>G (p.K290R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444591A>G" "" "VUS" "" "0000257701" "0" "10" "8" "6389889" "6389889" "subst" "0.333771" "02330" "MCPH1_000042" "g.6389889C>G" "" "" "" "ANGPT2(NM_001147.2):c.408G>C (p.A136=), ANGPT2(NM_001147.3):c.408G>C (p.A136=), MCPH1(NM_024596.5):c.2214+32439C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6532368C>G" "" "benign" "" "0000262447" "0" "10" "8" "6389889" "6389889" "subst" "0.333771" "01943" "MCPH1_000042" "g.6389889C>G" "" "" "" "ANGPT2(NM_001147.2):c.408G>C (p.A136=), ANGPT2(NM_001147.3):c.408G>C (p.A136=), MCPH1(NM_024596.5):c.2214+32439C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6532368C>G" "" "benign" "" "0000279629" "0" "10" "8" "6377433" "6377433" "subst" "0.264392" "02330" "MCPH1_000039" "g.6377433C>T" "" "" "" "ANGPT2(NM_001147.3):c.882G>A (p.T294=), MCPH1(NM_024596.5):c.2214+19983C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6519912C>T" "" "benign" "" "0000279630" "0" "10" "8" "6378763" "6378763" "subst" "0.340975" "02330" "MCPH1_000040" "g.6378763C>T" "" "" "" "ANGPT2(NM_001147.3):c.735G>A (p.Q245=), MCPH1(NM_024596.5):c.2214+21313C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6521242C>T" "" "benign" "" "0000279631" "0" "10" "8" "6378784" "6378784" "subst" "0.0643933" "02330" "MCPH1_000041" "g.6378784C>A" "" "" "" "ANGPT2(NM_001147.3):c.714G>T (p.T238=), MCPH1(NM_024596.5):c.2214+21334C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6521263C>A" "" "benign" "" "0000279632" "0" "10" "8" "6389889" "6389889" "subst" "0.29956" "02330" "MCPH1_000043" "g.6389889C>A" "" "" "" "ANGPT2(NM_001147.3):c.408G>T (p.A136=), MCPH1(NM_024596.5):c.2214+32439C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6532368C>A" "" "benign" "" "0000282416" "0" "10" "8" "6478986" "6478986" "subst" "0.427398" "02325" "MCPH1_000045" "g.6478986C>T" "" "" "" "MCPH1(NM_024596.4):c.2226C>T (p.S742=), MCPH1(NM_024596.5):c.2226C>T (p.S742=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621465C>T" "" "benign" "" "0000282417" "0" "10" "8" "6479042" "6479042" "subst" "0.433063" "02325" "MCPH1_000046" "g.6479042C>T" "" "" "" "MCPH1(NM_024596.4):c.2282C>T (p.A761V), MCPH1(NM_024596.5):c.2282C>T (p.A761V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621521C>T" "" "benign" "" "0000282418" "0" "10" "8" "6272399" "6272399" "subst" "0.779479" "02325" "MCPH1_000008" "g.6272399G>T" "" "" "" "MCPH1(NM_001172574.2):c.228G>T (p.V76=), MCPH1(NM_024596.4):c.228G>T (p.V76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6414878G>T" "" "benign" "" "0000282419" "0" "10" "8" "6479178" "6479178" "subst" "0.364537" "02325" "MCPH1_000049" "g.6479178C>A" "" "" "" "MCPH1(NM_024596.4):c.2418C>A (p.A806=), MCPH1(NM_024596.5):c.2418C>A (p.A806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621657C>A" "" "benign" "" "0000282420" "0" "10" "8" "6500544" "6500544" "subst" "0.286029" "02325" "MCPH1_000052" "g.6500544C>T" "" "" "" "MCPH1(NM_024596.4):c.2482C>T (p.P828S), MCPH1(NM_024596.5):c.2482C>T (p.P828S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6643023C>T" "" "benign" "" "0000282421" "0" "10" "8" "6296550" "6296550" "subst" "0.968747" "02325" "MCPH1_000012" "g.6296550G>T" "" "" "" "MCPH1(NM_001172574.2):c.513G>T (p.R171S), MCPH1(NM_024596.4):c.513G>T (p.R171S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6439029G>T" "" "benign" "" "0000282422" "0" "10" "8" "6302154" "6302154" "subst" "0.113344" "02325" "MCPH1_000020" "g.6302154G>T" "" "" "" "MCPH1(NM_001172574.2):c.911G>T (p.R304I), MCPH1(NM_024596.4):c.911G>T (p.R304I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444633G>T" "" "benign" "" "0000282423" "0" "10" "8" "6302183" "6302183" "subst" "0.780863" "02325" "MCPH1_000021" "g.6302183G>C" "" "" "" "MCPH1(NM_001172574.2):c.940G>C (p.D314H), MCPH1(NM_024596.4):c.940G>C (p.D314H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444662G>C" "" "benign" "" "0000291615" "0" "30" "8" "6264179" "6264179" "subst" "1.26419E-5" "01943" "MCPH1_000004" "g.6264179G>C" "" "" "" "MCPH1(NM_024596.4):c.-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6406658G>C" "" "likely benign" "" "0000291616" "0" "30" "8" "6302391" "6302391" "subst" "0" "01943" "MCPH1_000023" "g.6302391C>G" "" "" "" "MCPH1(NM_024596.4):c.1148C>G (p.P383R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444870C>G" "" "likely benign" "" "0000291617" "0" "50" "8" "6272299" "6272299" "subst" "2.43748E-5" "01943" "MCPH1_000007" "g.6272299T>C" "" "" "" "MCPH1(NM_024596.4):c.128T>C (p.F43S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6414778T>C" "" "VUS" "" "0000291618" "0" "30" "8" "6302594" "6302594" "subst" "0.00125121" "01943" "MCPH1_000025" "g.6302594G>A" "" "" "" "MCPH1(NM_024596.4):c.1351G>A (p.E451K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445073G>A" "" "likely benign" "" "0000291619" "0" "30" "8" "6302612" "6302612" "subst" "0.000743443" "01943" "MCPH1_000026" "g.6302612G>A" "" "" "" "MCPH1(NM_024596.4):c.1369G>A (p.E457K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445091G>A" "" "likely benign" "" "0000291620" "0" "10" "8" "6302671" "6302671" "subst" "0.0797795" "01943" "MCPH1_000028" "g.6302671C>T" "" "" "" "MCPH1(NM_024596.4):c.1428C>T (p.F476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445150C>T" "" "benign" "" "0000291621" "0" "30" "8" "6302794" "6302794" "subst" "3.65565E-5" "01943" "MCPH1_000030" "g.6302794C>T" "" "" "" "MCPH1(NM_024596.4):c.1551C>T (p.D517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445273C>T" "" "likely benign" "" "0000291622" "0" "50" "8" "6302922" "6302922" "subst" "0.000121882" "01943" "MCPH1_000032" "g.6302922G>T" "" "" "" "MCPH1(NM_024596.4):c.1679G>T (p.S560I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445401G>T" "" "VUS" "" "0000291623" "0" "10" "8" "6302962" "6302962" "subst" "0.00316682" "01943" "MCPH1_000033" "g.6302962C>T" "" "" "" "MCPH1(NM_024596.4):c.1719C>T (p.S573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445441C>T" "" "benign" "" "0000291624" "0" "30" "8" "6302971" "6302971" "subst" "0.0430136" "01943" "MCPH1_000034" "g.6302971C>T" "" "" "" "MCPH1(NM_024596.4):c.1728C>T (p.G576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445450C>T" "" "likely benign" "" "0000291625" "0" "30" "8" "6303024" "6303024" "subst" "0.000633776" "01943" "MCPH1_000035" "g.6303024C>T" "" "" "" "MCPH1(NM_024596.4):c.1781C>T (p.T594M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445503C>T" "" "likely benign" "" "0000291626" "0" "10" "8" "6303025" "6303025" "subst" "0.262334" "01943" "MCPH1_000001" "g.6303025G>A" "" "" "" "MCPH1(NM_024596.4):c.1782G>A (p.T594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445504G>A" "" "benign" "" "0000291627" "0" "10" "8" "6338306" "6338306" "subst" "0.14928" "01943" "MCPH1_000036" "g.6338306C>A" "" "" "" "MCPH1(NM_024596.4):c.2045C>A (p.T682N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6480785C>A" "" "benign" "" "0000291628" "0" "50" "8" "6357446" "6357446" "subst" "0.00011778" "01943" "MCPH1_000037" "g.6357446C>G" "" "" "" "MCPH1(NM_024596.4):c.2210C>G (p.A737G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6499925C>G" "" "VUS" "" "0000291629" "0" "10" "8" "6478960" "6478960" "subst" "0.24404" "01943" "MCPH1_000044" "g.6478960C>G" "" "" "" "MCPH1(NM_024596.4):c.2215-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621439C>G" "" "benign" "" "0000291630" "0" "10" "8" "6478986" "6478986" "subst" "0.427398" "01943" "MCPH1_000045" "g.6478986C>T" "" "" "" "MCPH1(NM_024596.4):c.2226C>T (p.S742=), MCPH1(NM_024596.5):c.2226C>T (p.S742=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621465C>T" "" "benign" "" "0000291631" "0" "10" "8" "6479042" "6479042" "subst" "0.433063" "01943" "MCPH1_000046" "g.6479042C>T" "" "" "" "MCPH1(NM_024596.4):c.2282C>T (p.A761V), MCPH1(NM_024596.5):c.2282C>T (p.A761V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621521C>T" "" "benign" "" "0000291632" "0" "10" "8" "6272399" "6272399" "subst" "0.779479" "01943" "MCPH1_000008" "g.6272399G>T" "" "" "" "MCPH1(NM_001172574.2):c.228G>T (p.V76=), MCPH1(NM_024596.4):c.228G>T (p.V76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6414878G>T" "" "benign" "" "0000291633" "0" "10" "8" "6266774" "6266774" "subst" "0.250248" "01943" "MCPH1_000005" "g.6266774G>A" "" "" "" "MCPH1(NM_024596.4):c.23-26G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6409253G>A" "" "benign" "" "0000291634" "0" "10" "8" "6479160" "6479160" "subst" "0.00623527" "01943" "MCPH1_000047" "g.6479160C>T" "" "" "" "MCPH1(NM_024596.4):c.2400C>T (p.Y800=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621639C>T" "" "benign" "" "0000291635" "0" "10" "8" "6479178" "6479178" "subst" "0.364537" "01943" "MCPH1_000049" "g.6479178C>A" "" "" "" "MCPH1(NM_024596.4):c.2418C>A (p.A806=), MCPH1(NM_024596.5):c.2418C>A (p.A806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621657C>A" "" "benign" "" "0000291636" "0" "70" "8" "6479205" "6479205" "subst" "0" "01943" "MCPH1_000050" "g.6479205G>A" "" "" "" "MCPH1(NM_024596.4):c.2445G>A (p.W815*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621684G>A" "" "likely pathogenic" "" "0000291637" "0" "10" "8" "6500501" "6500501" "subst" "0.00208616" "01943" "MCPH1_000051" "g.6500501C>T" "" "" "" "MCPH1(NM_024596.4):c.2453-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6642980C>T" "" "benign" "" "0000291638" "0" "10" "8" "6500544" "6500544" "subst" "0.286029" "01943" "MCPH1_000052" "g.6500544C>T" "" "" "" "MCPH1(NM_024596.4):c.2482C>T (p.P828S), MCPH1(NM_024596.5):c.2482C>T (p.P828S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6643023C>T" "" "benign" "" "0000291639" "0" "30" "8" "6289091" "6289091" "subst" "0.000540253" "01943" "MCPH1_000009" "g.6289091G>C" "" "" "" "MCPH1(NM_024596.4):c.305G>C (p.S102T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6431570G>C" "" "likely benign" "" "0000291640" "0" "30" "8" "6293680" "6293680" "subst" "0.00126966" "01943" "MCPH1_000010" "g.6293680C>T" "" "" "" "MCPH1(NM_024596.4):c.433C>T (p.L145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6436159C>T" "" "likely benign" "" "0000291641" "0" "10" "8" "6296550" "6296550" "subst" "0.968747" "01943" "MCPH1_000012" "g.6296550G>T" "" "" "" "MCPH1(NM_001172574.2):c.513G>T (p.R171S), MCPH1(NM_024596.4):c.513G>T (p.R171S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6439029G>T" "" "benign" "" "0000291642" "0" "70" "8" "6296618" "6296618" "subst" "0" "01943" "MCPH1_000013" "g.6296618G>A" "" "" "" "MCPH1(NM_001322042.1):c.580+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6439097G>A" "" "likely pathogenic" "" "0000291643" "0" "10" "8" "6299559" "6299559" "subst" "0.0100469" "01943" "MCPH1_000014" "g.6299559C>A" "" "" "" "MCPH1(NM_024596.4):c.581-29C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6442038C>A" "" "benign" "" "0000291644" "0" "10" "8" "6299641" "6299641" "subst" "0.00365747" "01943" "MCPH1_000016" "g.6299641G>A" "" "" "" "MCPH1(NM_001172574.1):c.634G>A (p.(Ala212Thr)), MCPH1(NM_024596.4):c.634G>A (p.A212T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6442120G>A" "" "benign" "" "0000291645" "0" "10" "8" "6299654" "6299654" "subst" "0.00258099" "01943" "MCPH1_000017" "g.6299654T>C" "" "" "" "MCPH1(NM_024596.4):c.647T>C (p.I216T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6442133T>C" "" "benign" "" "0000291646" "0" "50" "8" "6266866" "6266866" "subst" "8.12249E-6" "01943" "MCPH1_000006" "g.6266866C>T" "" "" "" "MCPH1(NM_024596.4):c.89C>T (p.T30I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6409345C>T" "" "VUS" "" "0000291647" "0" "10" "8" "6302154" "6302154" "subst" "0.113344" "01943" "MCPH1_000020" "g.6302154G>T" "" "" "" "MCPH1(NM_001172574.2):c.911G>T (p.R304I), MCPH1(NM_024596.4):c.911G>T (p.R304I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444633G>T" "" "benign" "" "0000291648" "0" "10" "8" "6302183" "6302183" "subst" "0.780863" "01943" "MCPH1_000021" "g.6302183G>C" "" "" "" "MCPH1(NM_001172574.2):c.940G>C (p.D314H), MCPH1(NM_024596.4):c.940G>C (p.D314H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444662G>C" "" "benign" "" "0000332000" "0" "50" "8" "6296482" "6296482" "subst" "0.000272624" "01804" "MCPH1_000011" "g.6296482G>A" "" "" "" "MCPH1(NM_001172574.1):c.445G>A (p.(Val149Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6438961G>A" "" "VUS" "" "0000332001" "0" "50" "8" "6299617" "6299617" "subst" "1.62525E-5" "01804" "MCPH1_000015" "g.6299617A>G" "" "" "" "MCPH1(NM_001172574.1):c.610A>G (p.(Asn204Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6442096A>G" "" "VUS" "" "0000332004" "0" "30" "8" "6302646" "6302646" "subst" "0.00052812" "01804" "MCPH1_000027" "g.6302646C>A" "" "" "" "MCPH1(NM_001172574.1):c.1403C>A (p.(Thr468Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445125C>A" "" "likely benign" "" "0000340342" "0" "10" "8" "6302671" "6302671" "subst" "0.0797795" "02327" "MCPH1_000028" "g.6302671C>T" "" "" "" "MCPH1(NM_024596.4):c.1428C>T (p.F476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445150C>T" "" "benign" "" "0000340345" "0" "10" "8" "6302962" "6302962" "subst" "0.00316682" "02327" "MCPH1_000033" "g.6302962C>T" "" "" "" "MCPH1(NM_024596.4):c.1719C>T (p.S573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445441C>T" "" "benign" "" "0000340346" "0" "10" "8" "6302971" "6302971" "subst" "0.0430136" "02327" "MCPH1_000034" "g.6302971C>T" "" "" "" "MCPH1(NM_024596.4):c.1728C>T (p.G576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445450C>T" "" "benign" "" "0000340348" "0" "10" "8" "6303025" "6303025" "subst" "0.262334" "02327" "MCPH1_000001" "g.6303025G>A" "" "" "" "MCPH1(NM_024596.4):c.1782G>A (p.T594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6445504G>A" "" "benign" "" "0000340356" "0" "10" "8" "6479178" "6479178" "subst" "0.364537" "02327" "MCPH1_000049" "g.6479178C>A" "" "" "" "MCPH1(NM_024596.4):c.2418C>A (p.A806=), MCPH1(NM_024596.5):c.2418C>A (p.A806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621657C>A" "" "benign" "" "0000340972" "0" "10" "8" "6478986" "6478986" "subst" "0.427398" "02327" "MCPH1_000045" "g.6478986C>T" "" "" "" "MCPH1(NM_024596.4):c.2226C>T (p.S742=), MCPH1(NM_024596.5):c.2226C>T (p.S742=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621465C>T" "" "benign" "" "0000341266" "0" "10" "8" "6299641" "6299641" "subst" "0.00365747" "02327" "MCPH1_000016" "g.6299641G>A" "" "" "" "MCPH1(NM_001172574.1):c.634G>A (p.(Ala212Thr)), MCPH1(NM_024596.4):c.634G>A (p.A212T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6442120G>A" "" "benign" "" "0000341587" "0" "10" "8" "6479042" "6479042" "subst" "0.433063" "02327" "MCPH1_000046" "g.6479042C>T" "" "" "" "MCPH1(NM_024596.4):c.2282C>T (p.A761V), MCPH1(NM_024596.5):c.2282C>T (p.A761V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621521C>T" "" "benign" "" "0000342586" "0" "10" "8" "6302154" "6302154" "subst" "0.113344" "02327" "MCPH1_000020" "g.6302154G>T" "" "" "" "MCPH1(NM_001172574.2):c.911G>T (p.R304I), MCPH1(NM_024596.4):c.911G>T (p.R304I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444633G>T" "" "benign" "" "0000344055" "0" "10" "8" "6302183" "6302183" "subst" "0.780863" "02327" "MCPH1_000021" "g.6302183G>C" "" "" "" "MCPH1(NM_001172574.2):c.940G>C (p.D314H), MCPH1(NM_024596.4):c.940G>C (p.D314H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444662G>C" "" "benign" "" "0000344081" "0" "10" "8" "6302418" "6302418" "subst" "0.998216" "02327" "MCPH1_000024" "g.6302418A>G" "" "" "" "MCPH1(NM_001172574.2):c.1175A>G (p.D392G), MCPH1(NM_024596.4):c.1175A>G (p.D392G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444897A>G" "" "benign" "" "0000348347" "0" "10" "8" "6302106" "6302106" "subst" "0.026837" "02327" "MCPH1_000055" "g.6302106C>A" "" "" "" "MCPH1(NM_024596.4):c.863C>A (p.P288H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6444585C>A" "" "benign" "" "0000348586" "0" "10" "8" "6500544" "6500544" "subst" "0.286029" "02327" "MCPH1_000052" "g.6500544C>T" "" "" "" "MCPH1(NM_024596.4):c.2482C>T (p.P828S), MCPH1(NM_024596.5):c.2482C>T (p.P828S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6643023C>T" "" "benign" "" "0000349177" "0" "10" "8" "6479161" "6479161" "subst" "0.00256729" "02327" "MCPH1_000048" "g.6479161A>G" "" "" "" "MCPH1(NM_024596.4):c.2401A>G (p.S801G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621640A>G" "" "benign" "" "0000349604" "0" "10" "8" "6338306" "6338306" "subst" "0.14928" "02327" "MCPH1_000036" "g.6338306C>A" "" "" "" "MCPH1(NM_024596.4):c.2045C>A (p.T682N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6480785C>A" "" "benign" "" "0000349833" "0" "90" "8" "6272350" "6272350" "subst" "0" "02327" "MCPH1_000053" "g.6272350G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6414829G>A" "" "pathogenic" "" "0000350658" "0" "10" "8" "6272399" "6272399" "subst" "0.779479" "02327" "MCPH1_000008" "g.6272399G>T" "" "" "" "MCPH1(NM_001172574.2):c.228G>T (p.V76=), MCPH1(NM_024596.4):c.228G>T (p.V76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6414878G>T" "" "benign" "" "0000351319" "0" "10" "8" "6478956" "6478956" "subst" "0.446477" "02327" "MCPH1_000056" "g.6478956A>G" "" "" "" "MCPH1(NM_024596.4):c.2215-19A>G, MCPH1(NM_024596.5):c.2215-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621435A>G" "" "benign" "" "0000351320" "0" "10" "8" "6478960" "6478960" "subst" "0.24404" "02327" "MCPH1_000044" "g.6478960C>G" "" "" "" "MCPH1(NM_024596.4):c.2215-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6621439C>G" "" "benign" "" "0000535203" "0" "30" "8" "6296514" "6296514" "subst" "0.00306666" "01943" "ANGPT2_000001" "g.6296514A>T" "" "" "" "MCPH1(NM_024596.4):c.477A>T (p.S159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6438993A>T" "" "likely benign" "" "0000535204" "0" "30" "8" "6299641" "6299641" "subst" "0.00365747" "01804" "MCPH1_000016" "g.6299641G>A" "" "" "" "MCPH1(NM_001172574.1):c.634G>A (p.(Ala212Thr)), MCPH1(NM_024596.4):c.634G>A (p.A212T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6442120G>A" "" "likely benign" "" "0000535205" "0" "30" "8" "6302026" "6302026" "subst" "0.000771893" "01943" "ANGPT2_000002" "g.6302026T>A" "" "" "" "MCPH1(NM_024596.4):c.783T>A (p.D261E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6444505T>A" "" "likely benign" "" "0000535206" "0" "10" "8" "6302106" "6302106" "subst" "0.026837" "01943" "MCPH1_000055" "g.6302106C>A" "" "" "" "MCPH1(NM_024596.4):c.863C>A (p.P288H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6444585C>A" "" "benign" "" "0000535208" "0" "30" "8" "6302151" "6302151" "subst" "0" "01804" "ANGPT2_000003" "g.6302151A>G" "" "" "" "MCPH1(NM_001172574.1):c.908A>G (p.(Gln303Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6444630A>G" "" "likely benign" "" "0000535209" "0" "30" "8" "6302295" "6302295" "subst" "0.000138375" "01804" "ANGPT2_000004" "g.6302295G>T" "" "" "" "MCPH1(NM_001172574.1):c.1052G>T (p.(Ser351Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6444774G>T" "" "likely benign" "" "0000535210" "0" "30" "8" "6302308" "6302308" "subst" "3.66345E-5" "01943" "ANGPT2_000005" "g.6302308G>T" "" "" "" "MCPH1(NM_001322042.1):c.1065G>T (p.K355N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6444787G>T" "" "likely benign" "" "0000535211" "0" "30" "8" "6302431" "6302431" "subst" "7.72119E-5" "01943" "ANGPT2_000006" "g.6302431C>A" "" "" "" "MCPH1(NM_001322042.1):c.1188C>A (p.H396Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6444910C>A" "" "likely benign" "" "0000535212" "0" "30" "8" "6302592" "6302592" "subst" "0.000316859" "01804" "ANGPT2_000007" "g.6302592A>C" "" "" "" "MCPH1(NM_001172574.1):c.1349A>C (p.(Lys450Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6445071A>C" "" "likely benign" "" "0000535213" "0" "30" "8" "6302673" "6302673" "subst" "8.12612E-6" "01804" "ANGPT2_000008" "g.6302673C>T" "" "" "" "MCPH1(NM_001172574.1):c.1430C>T (p.(Thr477Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6445152C>T" "" "likely benign" "" "0000535214" "0" "30" "8" "6302706" "6302706" "subst" "4.06296E-6" "01943" "ANGPT2_000009" "g.6302706G>A" "" "" "" "MCPH1(NM_024596.4):c.1463G>A (p.G488E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6445185G>A" "" "likely benign" "" "0000535215" "0" "30" "8" "6302720" "6302720" "subst" "1.2189E-5" "01943" "ANGPT2_000010" "g.6302720C>T" "" "" "" "MCPH1(NM_024596.4):c.1477C>T (p.R493C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6445199C>T" "" "likely benign" "" "0000535216" "0" "30" "8" "6302736" "6302736" "subst" "4.06286E-6" "01943" "ANGPT2_000011" "g.6302736G>C" "" "" "" "MCPH1(NM_001322042.1):c.1493G>C (p.C498S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6445215G>C" "" "likely benign" "" "0000535217" "0" "30" "8" "6302832" "6302832" "subst" "0.000251785" "01943" "ANGPT2_000012" "g.6302832A>T" "" "" "" "MCPH1(NM_024596.4):c.1589A>T (p.E530V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6445311A>T" "" "likely benign" "" "0000535218" "0" "30" "8" "6303022" "6303022" "subst" "3.29364E-5" "01943" "ANGPT2_000013" "g.6303022G>C" "" "" "" "MCPH1(NM_024596.4):c.1779G>C (p.E593D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6445501G>C" "" "likely benign" "" "0000535220" "0" "30" "8" "6303028" "6303028" "subst" "0.000378278" "01943" "ANGPT2_000014" "g.6303028T>C" "" "" "" "MCPH1(NM_001322042.1):c.1785T>C (p.S595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6445507T>C" "" "likely benign" "" "0000535221" "0" "50" "8" "6338248" "6338248" "subst" "8.12222E-6" "01804" "ANGPT2_000015" "g.6338248G>A" "" "" "" "MCPH1(NM_024596.3):c.1987G>A (p.(Val663Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6480727G>A" "" "VUS" "" "0000535222" "0" "30" "8" "6338284" "6338284" "subst" "4.06091E-6" "01804" "ANGPT2_000016" "g.6338284A>G" "" "" "" "MCPH1(NM_024596.3):c.2023A>G (p.(Ile675Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6480763A>G" "" "likely benign" "" "0000535223" "0" "90" "8" "6357381" "6357381" "subst" "0.00012184" "01943" "ANGPT2_000017" "g.6357381G>A" "" "" "" "MCPH1(NM_001322042.1):c.2145G>A (p.W715*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6499860G>A" "" "pathogenic" "" "0000535224" "0" "50" "8" "6357416" "6357416" "subst" "0.000982829" "01943" "ANGPT2_000018" "g.6357416C>T" "" "" "" "MCPH1(NM_024596.4):c.2180C>T (p.P727L), MCPH1(NM_024596.5):c.2180C>T (p.(Pro727Leu), p.P727L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6499895C>T" "" "VUS" "" "0000535228" "0" "10" "8" "6478956" "6478956" "subst" "0.446477" "01943" "MCPH1_000056" "g.6478956A>G" "" "" "" "MCPH1(NM_024596.4):c.2215-19A>G, MCPH1(NM_024596.5):c.2215-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621435A>G" "" "benign" "" "0000535229" "0" "10" "8" "6478956" "6478956" "subst" "0.446477" "02325" "MCPH1_000056" "g.6478956A>G" "" "" "" "MCPH1(NM_024596.4):c.2215-19A>G, MCPH1(NM_024596.5):c.2215-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621435A>G" "" "benign" "" "0000535230" "0" "90" "8" "6478981" "6478981" "subst" "4.88691E-5" "02327" "ANGPT2_000020" "g.6478981C>T" "" "" "" "MCPH1(NM_024596.4):c.2221C>T (p.R741*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621460C>T" "" "pathogenic" "" "0000535231" "0" "30" "8" "6478987" "6478987" "subst" "4.88305E-5" "01804" "ANGPT2_000021" "g.6478987G>A" "" "" "" "MCPH1(NM_024596.3):c.2227G>A (p.(Glu743Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621466G>A" "" "likely benign" "" "0000535232" "0" "50" "8" "6479054" "6479054" "subst" "0.000276209" "01943" "ANGPT2_000022" "g.6479054C>G" "" "" "" "MCPH1(NM_024596.4):c.2294C>G (p.S765W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621533C>G" "" "VUS" "" "0000535233" "0" "50" "8" "6479152" "6479152" "subst" "0" "01804" "ANGPT2_000023" "g.6479152G>T" "" "" "" "MCPH1(NM_024596.3):c.2392G>T (p.(Gly798Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621631G>T" "" "VUS" "" "0000535234" "0" "30" "8" "6479155" "6479155" "subst" "0.000219375" "02325" "ANGPT2_000024" "g.6479155C>T" "" "" "" "MCPH1(NM_024596.5):c.2395C>T (p.(Pro799Ser), p.P799S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621634C>T" "" "likely benign" "" "0000611693" "0" "30" "8" "6301939" "6301939" "subst" "0" "01943" "ANGPT2_000025" "g.6301939C>T" "" "" "" "MCPH1(NM_024596.4):c.696C>T (p.H232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6444418C>T" "" "likely benign" "" "0000611694" "0" "30" "8" "6302304" "6302304" "subst" "0.000130228" "01943" "ANGPT2_000026" "g.6302304T>C" "" "" "" "MCPH1(NM_024596.4):c.1061T>C (p.V354A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6444783T>C" "" "likely benign" "" "0000611695" "0" "30" "8" "6302479" "6302479" "subst" "0.000304643" "01943" "ANGPT2_000027" "g.6302479T>C" "" "" "" "MCPH1(NM_024596.4):c.1236T>C (p.Y412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6444958T>C" "" "likely benign" "" "0000611696" "0" "30" "8" "6479191" "6479191" "subst" "0" "01943" "ANGPT2_000028" "g.6479191C>T" "" "" "" "MCPH1(NM_024596.4):c.2431C>T (p.L811=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6621670C>T" "" "likely benign" "" "0000652511" "1" "30" "8" "6302106" "6302106" "subst" "0.026837" "03575" "MCPH1_000055" "g.6302106C>A" "39/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "39 heterozygous, no homozygous; {DB:CLININrs35590577}" "Germline" "" "rs35590577" "0" "" "" "g.6444585C>A" "" "likely benign" "" "0000678421" "0" "50" "8" "6478982" "6478982" "subst" "3.66387E-5" "01943" "ANGPT2_000029" "g.6478982G>A" "" "" "" "MCPH1(NM_001322042.1):c.2222G>A (p.R741Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690314" "0" "50" "8" "6335137" "6335137" "subst" "8.12902E-6" "02325" "ANGPT2_000030" "g.6335137C>G" "" "" "" "MCPH1(NM_024596.5):c.1958C>G (p.T653R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722070" "0" "30" "8" "6289081" "6289081" "subst" "4.07216E-6" "01943" "ANGPT2_000031" "g.6289081C>T" "" "" "" "MCPH1(NM_001322042.1):c.295C>T (p.H99Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722071" "0" "90" "8" "6293674" "6293674" "dup" "0" "02329" "MCPH1_000003" "g.6293674dup" "" "" "" "MCPH1(NM_001322042.2):c.427dupA (p.T143Nfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000763174" "3" "90" "8" "6264188" "6266892" "del" "0" "00006" "MCPH1_000062" "g.(?_6264188)_(6266892_6272285)del" "" "{PMID:Anazi 2017:27431290}" "" "1_114del" "ACMG PVS1, PM2, PP1" "Germline" "" "" "0" "" "" "g.(?_6406667)_(6409371_6414764)del" "" "pathogenic" "ACMG" "0000803722" "0" "90" "8" "6299632" "6299633" "del" "0" "02329" "ANGPT2_000032" "g.6299632_6299633del" "" "" "" "MCPH1(NM_001322042.2):c.625_626delCT (p.L209Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803723" "0" "30" "8" "6303069" "6303069" "subst" "4.58543E-6" "01943" "MCPH1_000063" "g.6303069G>C" "" "" "" "MCPH1(NM_001322045.1):c.1724G>C (p.S575T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803724" "0" "30" "8" "6500549" "6500549" "subst" "0.000227565" "01943" "MCPH1_000064" "g.6500549A>C" "" "" "" "MCPH1(NM_024596.4):c.2487A>C (p.E829D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851984" "0" "50" "8" "6266835" "6266835" "subst" "2.03059E-5" "01943" "ANGPT2_000039" "g.6266835G>A" "" "" "" "MCPH1(NM_001322042.1):c.58G>A (p.G20R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888430" "0" "50" "8" "6357416" "6357416" "subst" "0.000982829" "02325" "ANGPT2_000018" "g.6357416C>T" "" "" "" "MCPH1(NM_024596.4):c.2180C>T (p.P727L), MCPH1(NM_024596.5):c.2180C>T (p.(Pro727Leu), p.P727L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888431" "0" "50" "8" "6357438" "6357438" "subst" "0.000560456" "02325" "ANGPT2_000040" "g.6357438C>A" "" "" "" "MCPH1(NM_024596.5):c.2202C>A (p.F734L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888432" "0" "50" "8" "6360653" "6360653" "subst" "0" "02330" "ANGPT2_000041" "g.6360653G>T" "" "" "" "ANGPT2(NM_001147.3):c.1460C>A (p.T487K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888433" "0" "10" "8" "6371303" "6371303" "subst" "0.0508134" "02330" "ANGPT2_000042" "g.6371303A>G" "" "" "" "ANGPT2(NM_001147.3):c.1095T>C (p.N365=), MCPH1(NM_001322042.2):c.2214+13853A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888434" "0" "10" "8" "6378691" "6378691" "subst" "0.0539869" "02330" "ANGPT2_000043" "g.6378691A>G" "" "" "" "ANGPT2(NM_001147.3):c.799+8T>C, MCPH1(NM_001322042.2):c.2214+21241A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912979" "0" "10" "8" "6371240" "6371240" "subst" "0.00141701" "02330" "ANGPT2_000044" "g.6371240C>G" "" "" "" "ANGPT2(NM_001147.3):c.1158G>C (p.L386F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912980" "0" "50" "8" "6478981" "6478981" "subst" "4.88691E-5" "02326" "ANGPT2_000020" "g.6478981C>T" "" "" "" "MCPH1(NM_024596.4):c.2221C>T (p.R741*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920685" "3" "90" "8" "6293568" "6293568" "subst" "3.25285E-5" "00006" "MCPH1_000075" "g.6293568G>C" "" "{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.6436047G>C" "" "pathogenic (recessive)" "" "0000920686" "3" "90" "8" "6289107" "6289107" "dup" "0" "00006" "MCPH1_000074" "g.6289107dup" "" "{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.6431586dup" "" "pathogenic (recessive)" "" "0000920687" "3" "70" "8" "6266841" "6266841" "subst" "0" "00006" "MCPH1_000069" "g.6266841G>A" "" "{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.6409320G>A" "" "likely pathogenic (recessive)" "" "0000920710" "3" "90" "8" "6478981" "6478981" "subst" "4.88691E-5" "00006" "ANGPT2_000020" "g.6478981C>T" "" "{PMID:Duerinckx 2018:29693325}" "" "" "homozygous in unaffected sister" "Germline" "no" "" "0" "" "" "g.6621460C>T" "" "VUS (!)" "" "0000920715" "3" "90" "8" "6478981" "6478981" "subst" "4.88691E-5" "00006" "ANGPT2_000020" "g.6478981C>T" "" "{PMID:Duerinckx 2018:29693325}" "" "" "individual is unaffected" "Germline" "no" "" "0" "" "" "" "" "VUS (!)" "" "0000921123" "3" "90" "8" "6264113" "6296618" "del" "0" "00006" "MCPH1_000067" "g.(?_6264113)_(6296618_6299587)del" "" "{PMID:Darvish 2010:20978018}" "" "del ex1-6" "" "Germline" "" "" "0" "" "" "g.(?_6406592)_(6439097_6442066)del" "" "pathogenic (recessive)" "" "0000921124" "3" "90" "8" "6289019" "6289108" "del" "0" "00006" "MCPH1_000073" "g.(6272405_6289019)_(6289108_6293568)del" "" "{PMID:Darvish 2010:20978018}" "" "del ex4" "" "Germline" "" "" "0" "" "" "g.(6414884_6431498)_(6431587_6436047)del" "" "pathogenic (recessive)" "" "0000921125" "3" "90" "8" "6296603" "6296603" "dup" "0" "00006" "MCPH1_000077" "g.6296603dup" "" "{PMID:Darvish 2010:20978018}" "" "" "" "Germline" "" "" "0" "" "" "g.6439082dup" "" "pathogenic (recessive)" "" "0000921126" "3" "90" "8" "6266799" "6272405" "del" "0" "00006" "MCPH1_000068" "g.(6264211_6266799)_(6272405_6289019)del" "" "{PMID:Darvish 2010:20978018}" "" "del ex2-3" "" "Germline" "" "" "0" "" "" "g.(6406690_6409278)_(6414884_6431498)del" "" "pathogenic (recessive)" "" "0000921127" "3" "90" "8" "6293684" "6293684" "subst" "0" "00006" "MCPH1_000076" "g.6293684G>T" "" "{PMID:Darvish 2010:20978018}" "" "" "" "Germline" "" "" "0" "" "" "g.6436163G>T" "" "pathogenic (recessive)" "" "0000921128" "3" "90" "8" "6272318" "6272318" "subst" "0" "00006" "MCPH1_000071" "g.6272318C>G" "" "{PMID:Darvish 2010:20978018}" "" "" "" "Germline" "" "" "0" "" "" "g.6414797C>G" "" "pathogenic (recessive)" "" "0000921129" "3" "90" "8" "6272285" "6272405" "del" "0" "00006" "MCPH1_000070" "g.(6266892_6272285)_(6272405_6289019)del" "" "{PMID:Darvish 2010:20978018}" "" "del ex3" "" "Germline" "" "" "0" "" "" "g.(6409371_6414764)_(6414884_6431498)del" "" "pathogenic (recessive)" "" "0000921130" "3" "90" "8" "6272386" "6272386" "subst" "8.12321E-6" "00006" "MCPH1_000072" "g.6272386C>T" "" "{PMID:Darvish 2010:20978018}" "" "" "" "Germline" "" "" "0" "" "" "g.6414865C>T" "" "pathogenic (recessive)" "" "0000921168" "3" "90" "8" "6302422" "6302422" "del" "0" "00006" "MCPH1_000078" "g.6302422del" "" "{PMID:Sajid Hussain 2013:22775483}" "" "1179delG" "" "Germline" "" "" "0" "" "" "g.6444901del" "" "pathogenic (recessive)" "" "0000921326" "1" "50" "8" "6479182" "6479182" "subst" "2.84446E-5" "00006" "MCPH1_000079" "g.6479182G>A" "" "{PMID:Kraemer 2016:26548919}" "" "" "" "Germline" "" "" "0" "" "" "g.6621661G>A" "" "VUS" "" "0000921395" "3" "90" "8" "6103533" "6267783" "del" "0" "00006" "MCPH1_000065" "g.6103533_6267783del" "" "{PMID:Ahmad 2017:28004384}" "" "1-160656_ 114 + 892del164250" "" "Germline" "yes" "" "0" "" "" "g.6246012_6410262del" "" "pathogenic (recessive)" "" "0000921399" "3" "90" "8" "5770668" "6348263" "del" "0" "00006" "MCPH1_000066" "g.5770668_6348263del" "" "{PMID:Ahmad 2017:28004384}" "" "1-493520_2137-9110del577593" "" "Germline" "yes" "" "0" "" "" "g.5913147_6490742del" "" "pathogenic (recessive)" "" "0000978261" "0" "30" "8" "6372233" "6372233" "subst" "0.00138073" "01804" "ANGPT2_000045" "g.6372233C>T" "" "" "" "ANGPT2(NM_001118887.2):c.994G>A (p.(Val332Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978262" "0" "30" "8" "6479155" "6479155" "subst" "0.000219375" "01804" "ANGPT2_000024" "g.6479155C>T" "" "" "" "MCPH1(NM_024596.5):c.2395C>T (p.(Pro799Ser), p.P799S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997288" "0" "30" "8" "6264195" "6264195" "subst" "0" "01804" "ANGPT2_000046" "g.6264195G>T" "" "" "" "MCPH1(NM_024596.3):c.7G>T (p.(Ala3Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997289" "0" "30" "8" "6302633" "6302633" "subst" "0.00031284" "01804" "ANGPT2_000047" "g.6302633G>A" "" "" "" "MCPH1(NM_024596.3):c.1390G>A (p.(Val464Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997290" "0" "30" "8" "6377403" "6377403" "subst" "0.000243704" "01804" "ANGPT2_000037" "g.6377403A>T" "" "" "" "MCPH1(NM_024596.3):c.2214+19953A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997291" "0" "30" "8" "6378728" "6378728" "subst" "0.000312871" "02330" "ANGPT2_000048" "g.6378728T>A" "" "" "" "ANGPT2(NM_001147.3):c.770A>T (p.N257I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997292" "0" "50" "8" "6420296" "6420296" "subst" "1.62427E-5" "02330" "ANGPT2_000049" "g.6420296G>A" "" "" "" "ANGPT2(NM_001147.3):c.160C>T (p.R54C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997293" "0" "50" "8" "6420445" "6420445" "subst" "4.12698E-6" "01804" "ANGPT2_000050" "g.6420445A>G" "" "" "" "ANGPT2(NM_001147.2):c.11T>C (p.(Ile4Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997294" "0" "90" "8" "6479122" "6479122" "subst" "2.03077E-5" "01804" "ANGPT2_000051" "g.6479122C>T" "" "" "" "MCPH1(NM_024596.3):c.2362C>T (p.(Gln788*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001037020" "0" "50" "8" "6338338" "6338338" "subst" "0.000134021" "01804" "ANGPT2_000052" "g.6338338C>T" "" "" "" "MCPH1(NM_024596.5):c.2077C>T (p.(Arg693Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037021" "0" "50" "8" "6338339" "6338339" "subst" "3.65533E-5" "01804" "ANGPT2_000053" "g.6338339G>A" "" "" "" "MCPH1(NM_024596.5):c.2078G>A (p.(Arg693His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037022" "0" "50" "8" "6338354" "6338354" "subst" "0" "01804" "ANGPT2_000054" "g.6338354T>G" "" "" "" "MCPH1(NM_024596.5):c.2093T>G (p.(Leu698Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037023" "0" "50" "8" "6338387" "6338387" "subst" "0" "01804" "ANGPT2_000055" "g.6338387C>T" "" "" "" "MCPH1(NM_024596.5):c.2126C>T (p.(Ser709Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037024" "0" "50" "8" "6357416" "6357416" "subst" "0.000982829" "01804" "ANGPT2_000018" "g.6357416C>T" "" "" "" "MCPH1(NM_024596.4):c.2180C>T (p.P727L), MCPH1(NM_024596.5):c.2180C>T (p.(Pro727Leu), p.P727L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037026" "0" "30" "8" "6482463" "6482463" "subst" "0" "01804" "ANGPT2_000056" "g.6482463C>G" "" "" "" "MCPH1(NM_001322042.2):c.2499C>G (p.(Ile833Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 MCPH1 ## Count = 289 "{{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}}" "0000001263" "00000153" "50" "1782" "0" "1782" "0" "c.1782G>A" "r.(=)" "p.(=)" "" "0000001263" "00025819" "50" "1782" "0" "1782" "0" "c.1782G>A" "r.(=)" "p.(=)" "" "0000004585" "00000153" "50" "1825" "2956" "1825" "2956" "c.1825+2956G>A" "" "p.(=)" "" "0000004585" "00025819" "50" "1825" "2956" "1825" "2956" "c.1825+2956G>A" "r.(=)" "p.(=)" "" "0000244196" "00000153" "90" "427" "0" "427" "0" "c.427dup" "r.(?)" "p.(Thr143Asnfs*5)" "" "0000246697" "00000153" "10" "2214" "13841" "2214" "13841" "c.2214+13841A>G" "r.(=)" "p.(=)" "" "0000246697" "00025819" "10" "2214" "13841" "2214" "13841" "c.2214+13841A>G" "r.(=)" "p.(=)" "" "0000246732" "00000153" "10" "2214" "32577" "2214" "32577" "c.2214+32577A>G" "r.(=)" "p.(=)" "" "0000246732" "00025819" "10" "2214" "32577" "2214" "32577" "c.2214+32577A>G" "r.(=)" "p.(=)" "" "0000247980" "00000153" "10" "1175" "0" "1175" "0" "c.1175A>G" "r.(?)" "p.(Asp392Gly)" "" "0000247980" "00025819" "10" "1175" "0" "1175" "0" "c.1175A>G" "r.(?)" "p.(Asp392Gly)" "" "0000253241" "00000153" "10" "1175" "0" "1175" "0" "c.1175A>G" "r.(?)" "p.(Asp392Gly)" "" "0000253241" "00025819" "10" "1175" "0" "1175" "0" "c.1175A>G" "r.(?)" "p.(Asp392Gly)" "" "0000253728" "00000153" "10" "989" "0" "989" "0" "c.989A>G" "r.(?)" "p.(Tyr330Cys)" "" "0000253728" "00025819" "10" "989" "0" "989" "0" "c.989A>G" "r.(?)" "p.(Tyr330Cys)" "" "0000253824" "00000153" "10" "23" "-15" "23" "-15" "c.23-15A>G" "r.(=)" "p.(=)" "" "0000253824" "00025819" "10" "23" "-15" "23" "-15" "c.23-15A>G" "r.(=)" "p.(=)" "" "0000254375" "00000153" "30" "1226" "0" "1226" "0" "c.1226A>T" "r.(?)" "p.(Glu409Val)" "" "0000254375" "00025819" "30" "1226" "0" "1226" "0" "c.1226A>T" "r.(?)" "p.(Glu409Val)" "" "0000254523" "00000153" "30" "790" "0" "790" "0" "c.790A>G" "r.(?)" "p.(Ile264Val)" "" "0000254523" "00025819" "30" "790" "0" "790" "0" "c.790A>G" "r.(?)" "p.(Ile264Val)" "" "0000255032" "00000153" "30" "2401" "0" "2401" "0" "c.2401A>G" "r.(?)" "p.(Ser801Gly)" "" "0000255032" "00025819" "30" "2401" "0" "2401" "0" "c.2401A>G" "r.(?)" "p.(Ser801Gly)" "" "0000255893" "00000153" "50" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "" "0000255893" "00025819" "50" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "" "0000256159" "00000153" "50" "869" "0" "869" "0" "c.869A>G" "r.(?)" "p.(Lys290Arg)" "" "0000256159" "00025819" "50" "869" "0" "869" "0" "c.869A>G" "r.(?)" "p.(Lys290Arg)" "" "0000257701" "00000153" "10" "2214" "32439" "2214" "32439" "c.2214+32439C>G" "r.(=)" "p.(=)" "" "0000257701" "00025819" "10" "2214" "32439" "2214" "32439" "c.2214+32439C>G" "r.(=)" "p.(=)" "" "0000262447" "00000153" "10" "2214" "32439" "2214" "32439" "c.2214+32439C>G" "r.(=)" "p.(=)" "" "0000262447" "00025819" "10" "2214" "32439" "2214" "32439" "c.2214+32439C>G" "r.(=)" "p.(=)" "" "0000279629" "00000153" "10" "2214" "19983" "2214" "19983" "c.2214+19983C>T" "r.(=)" "p.(=)" "" "0000279629" "00025819" "10" "2214" "19983" "2214" "19983" "c.2214+19983C>T" "r.(=)" "p.(=)" "" "0000279630" "00000153" "10" "2214" "21313" "2214" "21313" "c.2214+21313C>T" "r.(=)" "p.(=)" "" "0000279630" "00025819" "10" "2214" "21313" "2214" "21313" "c.2214+21313C>T" "r.(=)" "p.(=)" "" "0000279631" "00000153" "10" "2214" "21334" "2214" "21334" "c.2214+21334C>A" "r.(=)" "p.(=)" "" "0000279631" "00025819" "10" "2214" "21334" "2214" "21334" "c.2214+21334C>A" "r.(=)" "p.(=)" "" "0000279632" "00000153" "10" "2214" "32439" "2214" "32439" "c.2214+32439C>A" "r.(=)" "p.(=)" "" "0000279632" "00025819" "10" "2214" "32439" "2214" "32439" "c.2214+32439C>A" "r.(=)" "p.(=)" "" "0000282416" "00000153" "10" "2226" "0" "2226" "0" "c.2226C>T" "r.(?)" "p.(Ser742=)" "" "0000282416" "00025819" "10" "2226" "0" "2226" "0" "c.2226C>T" "r.(?)" "p.(Ser742=)" "" "0000282417" "00000153" "10" "2282" "0" "2282" "0" "c.2282C>T" "r.(?)" "p.(Ala761Val)" "" "0000282417" "00025819" "10" "2282" "0" "2282" "0" "c.2282C>T" "r.(?)" "p.(Ala761Val)" "" "0000282418" "00000153" "10" "228" "0" "228" "0" "c.228G>T" "r.(?)" "p.(Val76=)" "" "0000282418" "00025819" "10" "228" "0" "228" "0" "c.228G>T" "r.(?)" "p.(Val76=)" "" "0000282419" "00000153" "10" "2418" "0" "2418" "0" "c.2418C>A" "r.(?)" "p.(Ala806=)" "" "0000282419" "00025819" "10" "2418" "0" "2418" "0" "c.2418C>A" "r.(?)" "p.(Ala806=)" "" "0000282420" "00000153" "10" "2482" "0" "2482" "0" "c.2482C>T" "r.(?)" "p.(Pro828Ser)" "" "0000282420" "00025819" "10" "2482" "0" "2482" "0" "c.2482C>T" "r.(?)" "p.(Pro828Ser)" "" "0000282421" "00000153" "10" "513" "0" "513" "0" "c.513=" "r.(=)" "p.(Ser171=)" "" "0000282421" "00025819" "10" "513" "0" "513" "0" "c.513=" "r.(=)" "p.(Ser171=)" "" "0000282422" "00000153" "10" "911" "0" "911" "0" "c.911G>T" "r.(?)" "p.(Arg304Ile)" "" "0000282422" "00025819" "10" "911" "0" "911" "0" "c.911G>T" "r.(?)" "p.(Arg304Ile)" "" "0000282423" "00000153" "10" "940" "0" "940" "0" "c.940G>C" "r.(?)" "p.(Asp314His)" "" "0000282423" "00025819" "10" "940" "0" "940" "0" "c.940G>C" "r.(?)" "p.(Asp314His)" "" "0000291615" "00000153" "30" "-10" "0" "-10" "0" "c.-10G>C" "r.(?)" "p.(=)" "" "0000291615" "00025819" "30" "-10" "0" "-10" "0" "c.-10G>C" "r.(?)" "p.(=)" "" "0000291616" "00000153" "30" "1148" "0" "1148" "0" "c.1148C>G" "r.(?)" "p.(Pro383Arg)" "" "0000291616" "00025819" "30" "1148" "0" "1148" "0" "c.1148C>G" "r.(?)" "p.(Pro383Arg)" "" "0000291617" "00000153" "50" "128" "0" "128" "0" "c.128T>C" "r.(?)" "p.(Phe43Ser)" "" "0000291617" "00025819" "50" "128" "0" "128" "0" "c.128T>C" "r.(?)" "p.(Phe43Ser)" "" "0000291618" "00000153" "30" "1351" "0" "1351" "0" "c.1351G>A" "r.(?)" "p.(Glu451Lys)" "" "0000291618" "00025819" "30" "1351" "0" "1351" "0" "c.1351G>A" "r.(?)" "p.(Glu451Lys)" "" "0000291619" "00000153" "30" "1369" "0" "1369" "0" "c.1369G>A" "r.(?)" "p.(Glu457Lys)" "" "0000291619" "00025819" "30" "1369" "0" "1369" "0" "c.1369G>A" "r.(?)" "p.(Glu457Lys)" "" "0000291620" "00000153" "10" "1428" "0" "1428" "0" "c.1428C>T" "r.(?)" "p.(Phe476=)" "" "0000291620" "00025819" "10" "1428" "0" "1428" "0" "c.1428C>T" "r.(?)" "p.(Phe476=)" "" "0000291621" "00000153" "30" "1551" "0" "1551" "0" "c.1551C>T" "r.(?)" "p.(Asp517=)" "" "0000291621" "00025819" "30" "1551" "0" "1551" "0" "c.1551C>T" "r.(?)" "p.(Asp517=)" "" "0000291622" "00000153" "50" "1679" "0" "1679" "0" "c.1679G>T" "r.(?)" "p.(Ser560Ile)" "" "0000291622" "00025819" "50" "1679" "0" "1679" "0" "c.1679G>T" "r.(?)" "p.(Ser560Ile)" "" "0000291623" "00000153" "10" "1719" "0" "1719" "0" "c.1719C>T" "r.(?)" "p.(Ser573=)" "" "0000291623" "00025819" "10" "1719" "0" "1719" "0" "c.1719C>T" "r.(?)" "p.(Ser573=)" "" "0000291624" "00000153" "30" "1728" "0" "1728" "0" "c.1728C>T" "r.(?)" "p.(Gly576=)" "" "0000291624" "00025819" "30" "1728" "0" "1728" "0" "c.1728C>T" "r.(?)" "p.(Gly576=)" "" "0000291625" "00000153" "30" "1781" "0" "1781" "0" "c.1781C>T" "r.(?)" "p.(Thr594Met)" "" "0000291625" "00025819" "30" "1781" "0" "1781" "0" "c.1781C>T" "r.(?)" "p.(Thr594Met)" "" "0000291626" "00000153" "10" "1782" "0" "1782" "0" "c.1782G>A" "r.(?)" "p.(Thr594=)" "" "0000291626" "00025819" "10" "1782" "0" "1782" "0" "c.1782G>A" "r.(?)" "p.(Thr594=)" "" "0000291627" "00000153" "10" "2045" "0" "2045" "0" "c.2045C>A" "r.(?)" "p.(Thr682Asn)" "" "0000291627" "00025819" "10" "2045" "0" "2045" "0" "c.2045C>A" "r.(?)" "p.(Thr682Asn)" "" "0000291628" "00000153" "50" "2210" "0" "2210" "0" "c.2210C>G" "r.(?)" "p.(Ala737Gly)" "" "0000291628" "00025819" "50" "2210" "0" "2210" "0" "c.2210C>G" "r.(?)" "p.(Ala737Gly)" "" "0000291629" "00000153" "10" "2215" "-15" "2215" "-15" "c.2215-15C>G" "r.(=)" "p.(=)" "" "0000291629" "00025819" "10" "2215" "-15" "2215" "-15" "c.2215-15C>G" "r.(=)" "p.(=)" "" "0000291630" "00000153" "10" "2226" "0" "2226" "0" "c.2226C>T" "r.(?)" "p.(Ser742=)" "" "0000291630" "00025819" "10" "2226" "0" "2226" "0" "c.2226C>T" "r.(?)" "p.(Ser742=)" "" "0000291631" "00000153" "10" "2282" "0" "2282" "0" "c.2282C>T" "r.(?)" "p.(Ala761Val)" "" "0000291631" "00025819" "10" "2282" "0" "2282" "0" "c.2282C>T" "r.(?)" "p.(Ala761Val)" "" "0000291632" "00000153" "10" "228" "0" "228" "0" "c.228G>T" "r.(?)" "p.(Val76=)" "" "0000291632" "00025819" "10" "228" "0" "228" "0" "c.228G>T" "r.(?)" "p.(Val76=)" "" "0000291633" "00000153" "10" "23" "-26" "23" "-26" "c.23-26G>A" "r.(=)" "p.(=)" "" "0000291633" "00025819" "10" "23" "-26" "23" "-26" "c.23-26G>A" "r.(=)" "p.(=)" "" "0000291634" "00000153" "10" "2400" "0" "2400" "0" "c.2400C>T" "r.(?)" "p.(Tyr800=)" "" "0000291634" "00025819" "10" "2400" "0" "2400" "0" "c.2400C>T" "r.(?)" "p.(Tyr800=)" "" "0000291635" "00000153" "10" "2418" "0" "2418" "0" "c.2418C>A" "r.(?)" "p.(Ala806=)" "" "0000291635" "00025819" "10" "2418" "0" "2418" "0" "c.2418C>A" "r.(?)" "p.(Ala806=)" "" "0000291636" "00000153" "70" "2445" "0" "2445" "0" "c.2445G>A" "r.(?)" "p.(Trp815Ter)" "" "0000291636" "00025819" "70" "2445" "0" "2445" "0" "c.2445G>A" "r.(?)" "p.(Trp815Ter)" "" "0000291637" "00000153" "10" "2453" "-14" "2453" "-14" "c.2453-14C>T" "r.(=)" "p.(=)" "" "0000291637" "00025819" "10" "2453" "-14" "2453" "-14" "c.2453-14C>T" "r.(=)" "p.(=)" "" "0000291638" "00000153" "10" "2482" "0" "2482" "0" "c.2482C>T" "r.(?)" "p.(Pro828Ser)" "" "0000291638" "00025819" "10" "2482" "0" "2482" "0" "c.2482C>T" "r.(?)" "p.(Pro828Ser)" "" "0000291639" "00000153" "30" "305" "0" "305" "0" "c.305G>C" "r.(?)" "p.(Ser102Thr)" "" "0000291639" "00025819" "30" "305" "0" "305" "0" "c.305G>C" "r.(?)" "p.(Ser102Thr)" "" "0000291640" "00000153" "30" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Leu145=)" "" "0000291640" "00025819" "30" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Leu145=)" "" "0000291641" "00000153" "10" "513" "0" "513" "0" "c.513=" "r.(=)" "p.(Ser171=)" "" "0000291641" "00025819" "10" "513" "0" "513" "0" "c.513=" "r.(=)" "p.(Ser171=)" "" "0000291642" "00000153" "70" "580" "1" "580" "1" "c.580+1G>A" "r.spl?" "p.?" "" "0000291642" "00025819" "70" "580" "1" "580" "1" "c.580+1G>A" "r.spl?" "p.?" "" "0000291643" "00000153" "10" "581" "-29" "581" "-29" "c.581-29C>A" "r.(=)" "p.(=)" "" "0000291643" "00025819" "10" "581" "-29" "581" "-29" "c.581-29C>A" "r.(=)" "p.(=)" "" "0000291644" "00000153" "10" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Ala212Thr)" "" "0000291644" "00025819" "10" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Ala212Thr)" "" "0000291645" "00000153" "10" "647" "0" "647" "0" "c.647T>C" "r.(?)" "p.(Ile216Thr)" "" "0000291645" "00025819" "10" "647" "0" "647" "0" "c.647T>C" "r.(?)" "p.(Ile216Thr)" "" "0000291646" "00000153" "50" "89" "0" "89" "0" "c.89C>T" "r.(?)" "p.(Thr30Ile)" "" "0000291646" "00025819" "50" "89" "0" "89" "0" "c.89C>T" "r.(?)" "p.(Thr30Ile)" "" "0000291647" "00000153" "10" "911" "0" "911" "0" "c.911G>T" "r.(?)" "p.(Arg304Ile)" "" "0000291647" "00025819" "10" "911" "0" "911" "0" "c.911G>T" "r.(?)" "p.(Arg304Ile)" "" "0000291648" "00000153" "10" "940" "0" "940" "0" "c.940G>C" "r.(?)" "p.(Asp314His)" "" "0000291648" "00025819" "10" "940" "0" "940" "0" "c.940G>C" "r.(?)" "p.(Asp314His)" "" "0000332000" "00000153" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Val149Ile)" "" "0000332000" "00025819" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Val149Ile)" "" "0000332001" "00000153" "50" "610" "0" "610" "0" "c.610A>G" "r.(?)" "p.(Asn204Asp)" "" "0000332001" "00025819" "50" "610" "0" "610" "0" "c.610A>G" "r.(?)" "p.(Asn204Asp)" "" "0000332004" "00000153" "30" "1403" "0" "1403" "0" "c.1403C>A" "r.(?)" "p.(Thr468Asn)" "" "0000332004" "00025819" "30" "1403" "0" "1403" "0" "c.1403C>A" "r.(?)" "p.(Thr468Asn)" "" "0000340342" "00000153" "10" "1428" "0" "1428" "0" "c.1428C>T" "r.(?)" "p.(Phe476=)" "" "0000340342" "00025819" "10" "1428" "0" "1428" "0" "c.1428C>T" "r.(?)" "p.(Phe476=)" "" "0000340345" "00000153" "10" "1719" "0" "1719" "0" "c.1719C>T" "r.(?)" "p.(Ser573=)" "" "0000340345" "00025819" "10" "1719" "0" "1719" "0" "c.1719C>T" "r.(?)" "p.(Ser573=)" "" "0000340346" "00000153" "10" "1728" "0" "1728" "0" "c.1728C>T" "r.(?)" "p.(Gly576=)" "" "0000340346" "00025819" "10" "1728" "0" "1728" "0" "c.1728C>T" "r.(?)" "p.(Gly576=)" "" "0000340348" "00000153" "10" "1782" "0" "1782" "0" "c.1782G>A" "r.(?)" "p.(Thr594=)" "" "0000340348" "00025819" "10" "1782" "0" "1782" "0" "c.1782G>A" "r.(?)" "p.(Thr594=)" "" "0000340356" "00000153" "10" "2418" "0" "2418" "0" "c.2418C>A" "r.(?)" "p.(Ala806=)" "" "0000340356" "00025819" "10" "2418" "0" "2418" "0" "c.2418C>A" "r.(?)" "p.(Ala806=)" "" "0000340972" "00000153" "10" "2226" "0" "2226" "0" "c.2226C>T" "r.(?)" "p.(Ser742=)" "" "0000340972" "00025819" "10" "2226" "0" "2226" "0" "c.2226C>T" "r.(?)" "p.(Ser742=)" "" "0000341266" "00000153" "10" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Ala212Thr)" "" "0000341266" "00025819" "10" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Ala212Thr)" "" "0000341587" "00000153" "10" "2282" "0" "2282" "0" "c.2282C>T" "r.(?)" "p.(Ala761Val)" "" "0000341587" "00025819" "10" "2282" "0" "2282" "0" "c.2282C>T" "r.(?)" "p.(Ala761Val)" "" "0000342586" "00000153" "10" "911" "0" "911" "0" "c.911G>T" "r.(?)" "p.(Arg304Ile)" "" "0000342586" "00025819" "10" "911" "0" "911" "0" "c.911G>T" "r.(?)" "p.(Arg304Ile)" "" "0000344055" "00000153" "10" "940" "0" "940" "0" "c.940G>C" "r.(?)" "p.(Asp314His)" "" "0000344055" "00025819" "10" "940" "0" "940" "0" "c.940G>C" "r.(?)" "p.(Asp314His)" "" "0000344081" "00000153" "10" "1175" "0" "1175" "0" "c.1175A>G" "r.(?)" "p.(Asp392Gly)" "" "0000344081" "00025819" "10" "1175" "0" "1175" "0" "c.1175A>G" "r.(?)" "p.(Asp392Gly)" "" "0000348347" "00000153" "10" "863" "0" "863" "0" "c.863C>A" "r.(?)" "p.(Pro288His)" "" "0000348347" "00025819" "10" "863" "0" "863" "0" "c.863C>A" "r.(?)" "p.(Pro288His)" "" "0000348586" "00000153" "10" "2482" "0" "2482" "0" "c.2482C>T" "r.(?)" "p.(Pro828Ser)" "" "0000348586" "00025819" "10" "2482" "0" "2482" "0" "c.2482C>T" "r.(?)" "p.(Pro828Ser)" "" "0000349177" "00000153" "10" "2401" "0" "2401" "0" "c.2401A>G" "r.(?)" "p.(Ser801Gly)" "" "0000349177" "00025819" "10" "2401" "0" "2401" "0" "c.2401A>G" "r.(?)" "p.(Ser801Gly)" "" "0000349604" "00000153" "10" "2045" "0" "2045" "0" "c.2045C>A" "r.(?)" "p.(Thr682Asn)" "" "0000349604" "00025819" "10" "2045" "0" "2045" "0" "c.2045C>A" "r.(?)" "p.(Thr682Asn)" "" "0000349833" "00000153" "90" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Trp60Ter)" "" "0000349833" "00025819" "90" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Trp60Ter)" "" "0000350658" "00000153" "10" "228" "0" "228" "0" "c.228G>T" "r.(?)" "p.(Val76=)" "" "0000350658" "00025819" "10" "228" "0" "228" "0" "c.228G>T" "r.(?)" "p.(Val76=)" "" "0000351319" "00000153" "10" "2215" "-19" "2215" "-19" "c.2215-19A>G" "r.(=)" "p.(=)" "" "0000351319" "00025819" "10" "2215" "-19" "2215" "-19" "c.2215-19A>G" "r.(=)" "p.(=)" "" "0000351320" "00000153" "10" "2215" "-15" "2215" "-15" "c.2215-15C>G" "r.(=)" "p.(=)" "" "0000351320" "00025819" "10" "2215" "-15" "2215" "-15" "c.2215-15C>G" "r.(=)" "p.(=)" "" "0000535203" "00000153" "30" "477" "0" "477" "0" "c.477A>T" "r.(?)" "p.(Ser159=)" "" "0000535203" "00025819" "30" "477" "0" "477" "0" "c.477A>T" "r.(?)" "p.(Ser159=)" "" "0000535204" "00000153" "30" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Ala212Thr)" "" "0000535204" "00025819" "30" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Ala212Thr)" "" "0000535205" "00000153" "30" "783" "0" "783" "0" "c.783T>A" "r.(?)" "p.(Asp261Glu)" "" "0000535205" "00025819" "30" "783" "0" "783" "0" "c.783T>A" "r.(?)" "p.(Asp261Glu)" "" "0000535206" "00000153" "10" "863" "0" "863" "0" "c.863C>A" "r.(?)" "p.(Pro288His)" "" "0000535206" "00025819" "10" "863" "0" "863" "0" "c.863C>A" "r.(?)" "p.(Pro288His)" "" "0000535208" "00000153" "30" "908" "0" "908" "0" "c.908A>G" "r.(?)" "p.(Gln303Arg)" "" "0000535208" "00025819" "30" "908" "0" "908" "0" "c.908A>G" "r.(?)" "p.(Gln303Arg)" "" "0000535209" "00000153" "30" "1052" "0" "1052" "0" "c.1052G>T" "r.(?)" "p.(Ser351Ile)" "" "0000535209" "00025819" "30" "1052" "0" "1052" "0" "c.1052G>T" "r.(?)" "p.(Ser351Ile)" "" "0000535210" "00000153" "30" "1065" "0" "1065" "0" "c.1065G>T" "r.(?)" "p.(Lys355Asn)" "" "0000535210" "00025819" "30" "1065" "0" "1065" "0" "c.1065G>T" "r.(?)" "p.(Lys355Asn)" "" "0000535211" "00000153" "30" "1188" "0" "1188" "0" "c.1188C>A" "r.(?)" "p.(His396Gln)" "" "0000535211" "00025819" "30" "1188" "0" "1188" "0" "c.1188C>A" "r.(?)" "p.(His396Gln)" "" "0000535212" "00000153" "30" "1349" "0" "1349" "0" "c.1349A>C" "r.(?)" "p.(Lys450Thr)" "" "0000535212" "00025819" "30" "1349" "0" "1349" "0" "c.1349A>C" "r.(?)" "p.(Lys450Thr)" "" "0000535213" "00000153" "30" "1430" "0" "1430" "0" "c.1430C>T" "r.(?)" "p.(Thr477Ile)" "" "0000535213" "00025819" "30" "1430" "0" "1430" "0" "c.1430C>T" "r.(?)" "p.(Thr477Ile)" "" "0000535214" "00000153" "30" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Gly488Glu)" "" "0000535214" "00025819" "30" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Gly488Glu)" "" "0000535215" "00000153" "30" "1477" "0" "1477" "0" "c.1477C>T" "r.(?)" "p.(Arg493Cys)" "" "0000535215" "00025819" "30" "1477" "0" "1477" "0" "c.1477C>T" "r.(?)" "p.(Arg493Cys)" "" "0000535216" "00000153" "30" "1493" "0" "1493" "0" "c.1493G>C" "r.(?)" "p.(Cys498Ser)" "" "0000535216" "00025819" "30" "1493" "0" "1493" "0" "c.1493G>C" "r.(?)" "p.(Cys498Ser)" "" "0000535217" "00000153" "30" "1589" "0" "1589" "0" "c.1589A>T" "r.(?)" "p.(Glu530Val)" "" "0000535217" "00025819" "30" "1589" "0" "1589" "0" "c.1589A>T" "r.(?)" "p.(Glu530Val)" "" "0000535218" "00000153" "30" "1779" "0" "1779" "0" "c.1779G>C" "r.(?)" "p.(Glu593Asp)" "" "0000535218" "00025819" "30" "1779" "0" "1779" "0" "c.1779G>C" "r.(?)" "p.(Glu593Asp)" "" "0000535220" "00000153" "30" "1785" "0" "1785" "0" "c.1785T>C" "r.(?)" "p.(Ser595=)" "" "0000535220" "00025819" "30" "1785" "0" "1785" "0" "c.1785T>C" "r.(?)" "p.(Ser595=)" "" "0000535221" "00000153" "50" "1987" "0" "1987" "0" "c.1987G>A" "r.(?)" "p.(Val663Ile)" "" "0000535221" "00025819" "50" "1987" "0" "1987" "0" "c.1987G>A" "r.(?)" "p.(Val663Ile)" "" "0000535222" "00000153" "30" "2023" "0" "2023" "0" "c.2023A>G" "r.(?)" "p.(Ile675Val)" "" "0000535222" "00025819" "30" "2023" "0" "2023" "0" "c.2023A>G" "r.(?)" "p.(Ile675Val)" "" "0000535223" "00000153" "90" "2145" "0" "2145" "0" "c.2145G>A" "r.(?)" "p.(Trp715Ter)" "" "0000535223" "00025819" "90" "2145" "0" "2145" "0" "c.2145G>A" "r.(?)" "p.(Trp715Ter)" "" "0000535224" "00000153" "50" "2180" "0" "2180" "0" "c.2180C>T" "r.(?)" "p.(Pro727Leu)" "" "0000535224" "00025819" "50" "2180" "0" "2180" "0" "c.2180C>T" "r.(?)" "p.(Pro727Leu)" "" "0000535228" "00000153" "10" "2215" "-19" "2215" "-19" "c.2215-19A>G" "r.(=)" "p.(=)" "" "0000535228" "00025819" "10" "2215" "-19" "2215" "-19" "c.2215-19A>G" "r.(=)" "p.(=)" "" "0000535229" "00000153" "10" "2215" "-19" "2215" "-19" "c.2215-19A>G" "r.(=)" "p.(=)" "" "0000535229" "00025819" "10" "2215" "-19" "2215" "-19" "c.2215-19A>G" "r.(=)" "p.(=)" "" "0000535230" "00000153" "90" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Ter)" "" "0000535230" "00025819" "90" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Ter)" "" "0000535231" "00000153" "30" "2227" "0" "2227" "0" "c.2227G>A" "r.(?)" "p.(Glu743Lys)" "" "0000535231" "00025819" "30" "2227" "0" "2227" "0" "c.2227G>A" "r.(?)" "p.(Glu743Lys)" "" "0000535232" "00000153" "50" "2294" "0" "2294" "0" "c.2294C>G" "r.(?)" "p.(Ser765Trp)" "" "0000535232" "00025819" "50" "2294" "0" "2294" "0" "c.2294C>G" "r.(?)" "p.(Ser765Trp)" "" "0000535233" "00000153" "50" "2392" "0" "2392" "0" "c.2392G>T" "r.(?)" "p.(Gly798Trp)" "" "0000535233" "00025819" "50" "2392" "0" "2392" "0" "c.2392G>T" "r.(?)" "p.(Gly798Trp)" "" "0000535234" "00000153" "30" "2395" "0" "2395" "0" "c.2395C>T" "r.(?)" "p.(Pro799Ser)" "" "0000535234" "00025819" "30" "2395" "0" "2395" "0" "c.2395C>T" "r.(?)" "p.(Pro799Ser)" "" "0000611693" "00000153" "30" "696" "0" "696" "0" "c.696C>T" "r.(?)" "p.(His232=)" "" "0000611693" "00025819" "30" "696" "0" "696" "0" "c.696C>T" "r.(?)" "p.(His232=)" "" "0000611694" "00000153" "30" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(Val354Ala)" "" "0000611694" "00025819" "30" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(Val354Ala)" "" "0000611695" "00000153" "30" "1236" "0" "1236" "0" "c.1236T>C" "r.(?)" "p.(Tyr412=)" "" "0000611695" "00025819" "30" "1236" "0" "1236" "0" "c.1236T>C" "r.(?)" "p.(Tyr412=)" "" "0000611696" "00000153" "30" "2431" "0" "2431" "0" "c.2431C>T" "r.(?)" "p.(Leu811=)" "" "0000611696" "00025819" "30" "2431" "0" "2431" "0" "c.2431C>T" "r.(?)" "p.(Leu811=)" "" "0000652511" "00000153" "30" "863" "0" "863" "0" "c.863C>A" "r.(?)" "p.(Pro288His)" "" "0000652511" "00025819" "30" "863" "0" "863" "0" "c.863C>A" "r.(?)" "p.(Pro288His)" "" "0000678421" "00000153" "50" "2222" "0" "2222" "0" "c.2222G>A" "r.(?)" "p.(Arg741Gln)" "" "0000678421" "00025819" "50" "2222" "0" "2222" "0" "c.2222G>A" "r.(?)" "p.(Arg741Gln)" "" "0000690314" "00000153" "50" "1958" "0" "1958" "0" "c.1958C>G" "r.(?)" "p.(Thr653Arg)" "" "0000690314" "00025819" "50" "1958" "0" "1958" "0" "c.1958C>G" "r.(?)" "p.(Thr653Arg)" "" "0000722070" "00000153" "30" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(His99Tyr)" "" "0000722070" "00025819" "30" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(His99Tyr)" "" "0000722071" "00000153" "90" "427" "0" "427" "0" "c.427dup" "r.(?)" "p.(Thr143AsnfsTer5)" "" "0000722071" "00025819" "90" "427" "0" "427" "0" "c.427dup" "r.(?)" "p.(Thr143AsnfsTer5)" "" "0000763174" "00000153" "90" "-1" "0" "114" "1" "c.(?_-1)_(114+1_115-1)del" "r.0?" "p.0?" "_1_2i" "0000803722" "00025819" "90" "625" "0" "626" "0" "c.625_626del" "r.(?)" "p.(Leu209Valfs*2)" "" "0000803723" "00000153" "30" "1825" "1" "1825" "1" "c.1825+1G>C" "r.spl?" "p.?" "" "0000803723" "00025819" "30" "1825" "1" "1825" "1" "c.1825+1G>C" "r.spl?" "p.?" "" "0000803724" "00000153" "30" "2487" "0" "2487" "0" "c.2487A>C" "r.(?)" "p.(Glu829Asp)" "" "0000803724" "00025819" "30" "2487" "0" "2487" "0" "c.2487A>C" "r.(?)" "p.(Glu829Asp)" "" "0000851984" "00025819" "50" "58" "0" "58" "0" "c.58G>A" "r.(?)" "p.(Gly20Arg)" "" "0000888430" "00000153" "50" "2180" "0" "2180" "0" "c.2180C>T" "r.(?)" "p.(Pro727Leu)" "" "0000888430" "00025819" "50" "2180" "0" "2180" "0" "c.2180C>T" "r.(?)" "p.(Pro727Leu)" "" "0000888431" "00025819" "50" "2202" "0" "2202" "0" "c.2202C>A" "r.(?)" "p.(Phe734Leu)" "" "0000888432" "00025819" "50" "2214" "3203" "2214" "3203" "c.2214+3203G>T" "r.(=)" "p.(=)" "" "0000888433" "00025819" "10" "2214" "13853" "2214" "13853" "c.2214+13853A>G" "r.(=)" "p.(=)" "" "0000888434" "00025819" "10" "2214" "21241" "2214" "21241" "c.2214+21241A>G" "r.(=)" "p.(=)" "" "0000912979" "00025819" "10" "2214" "13790" "2214" "13790" "c.2214+13790C>G" "r.(=)" "p.(=)" "" "0000912980" "00000153" "50" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Ter)" "" "0000912980" "00025819" "50" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Ter)" "" "0000920685" "00000153" "90" "322" "-1" "322" "-1" "c.322-1G>C" "r.spl" "p.?" "" "0000920686" "00000153" "90" "321" "0" "321" "0" "c.321dup" "r.(?)" "p.(Arg108ThrfsTer2)" "" "0000920687" "00000153" "70" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "" "0000920710" "00000153" "90" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Ter)" "" "0000920715" "00000153" "90" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741*)" "" "0000921123" "00000153" "90" "" "0" "" "0" "c-76_(580+1_581-1){0}" "r.0" "p.0" "_1_6i" "0000921124" "00000153" "90" "234" "-1" "321" "1" "c.(233+1_234-1)_(321+1_322-1)del" "r.?" "p.?" "3i_4i" "0000921125" "00000153" "90" "566" "0" "566" "0" "c.566dup" "r.(?)" "p.(Asn189LysfsTer15)" "" "0000921126" "00000153" "90" "23" "-1" "233" "1" "c.(22+1_23-1)_(233+1_234-1)del" "r.?" "p.?" "1i_3i" "0000921127" "00000153" "90" "436" "1" "436" "1" "c.436+1G>T" "r.spl" "p.?" "" "0000921128" "00000153" "90" "147" "0" "147" "0" "c.147C>G" "r.(?)" "p.(His49Gln)" "" "0000921129" "00000153" "90" "115" "-1" "233" "1" "c.(114+1_115-1)_(233+1_234-1)del" "r.?" "p.?" "2i_3i" "0000921130" "00000153" "90" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ser72Leu)" "" "0000921168" "00000153" "90" "1179" "0" "1179" "0" "c.1179del" "r.(?)" "p.(Arg393SerfsTer50)" "8" "0000921326" "00025819" "50" "2422" "0" "2422" "0" "c.2422G>A" "r.(?)" "p.(Val808Ile)" "" "0000921395" "00000153" "90" "0" "0" "0" "0" "c.-76_114+892{0}" "r.0?" "p.0?" "_1_2i" "0000921399" "00000153" "90" "0" "0" "0" "0" "c.-76_2453-9773{0}" "r.0?" "p.0?" "_1_11i" "0000978261" "00025819" "30" "2214" "14783" "2214" "14783" "c.2214+14783C>T" "r.(=)" "p.(=)" "" "0000978262" "00000153" "30" "2395" "0" "2395" "0" "c.2395C>T" "r.(?)" "p.(Pro799Ser)" "" "0000978262" "00025819" "30" "2395" "0" "2395" "0" "c.2395C>T" "r.(?)" "p.(Pro799Ser)" "" "0000997288" "00025819" "30" "7" "0" "7" "0" "c.7G>T" "r.(?)" "p.(Ala3Ser)" "" "0000997289" "00025819" "30" "1390" "0" "1390" "0" "c.1390G>A" "r.(?)" "p.(Val464Ile)" "" "0000997290" "00025819" "30" "2214" "19953" "2214" "19953" "c.2214+19953A>T" "r.(=)" "p.(=)" "" "0000997291" "00025819" "30" "2214" "21278" "2214" "21278" "c.2214+21278T>A" "r.(=)" "p.(=)" "" "0000997292" "00025819" "50" "2215" "-58679" "2215" "-58679" "c.2215-58679G>A" "r.(=)" "p.(=)" "" "0000997293" "00025819" "50" "2215" "-58530" "2215" "-58530" "c.2215-58530A>G" "r.(=)" "p.(=)" "" "0000997294" "00025819" "90" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Gln788*)" "" "0001037020" "00025819" "50" "2077" "0" "2077" "0" "c.2077C>T" "r.(?)" "p.(Arg693Cys)" "" "0001037021" "00025819" "50" "2078" "0" "2078" "0" "c.2078G>A" "r.(?)" "p.(Arg693His)" "" "0001037022" "00025819" "50" "2093" "0" "2093" "0" "c.2093T>G" "r.(?)" "p.(Leu698Arg)" "" "0001037023" "00025819" "50" "2126" "0" "2126" "0" "c.2126C>T" "r.(?)" "p.(Ser709Phe)" "" "0001037024" "00000153" "50" "2180" "0" "2180" "0" "c.2180C>T" "r.(?)" "p.(Pro727Leu)" "" "0001037024" "00025819" "50" "2180" "0" "2180" "0" "c.2180C>T" "r.(?)" "p.(Pro727Leu)" "" "0001037026" "00025819" "30" "2452" "3251" "2452" "3251" "c.2452+3251C>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000000019" "0000001263" "0000000209" "0000004585" "0000151033" "0000244196" "0000295822" "0000652511" "0000362800" "0000763174" "0000434808" "0000920685" "0000434809" "0000920686" "0000434810" "0000920687" "0000434813" "0000920710" "0000434824" "0000920715" "0000435179" "0000921123" "0000435180" "0000921124" "0000435181" "0000921125" "0000435182" "0000921126" "0000435183" "0000921127" "0000435184" "0000921128" "0000435185" "0000921129" "0000435186" "0000921130" "0000435217" "0000921168" "0000435351" "0000921326" "0000435410" "0000921395" "0000435414" "0000921399"