### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYH11) # 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}}" "MYH11" "myosin, heavy chain 11, smooth muscle" "16" "p13.11" "unknown" "NG_009299.1" "UD_132119078377" "" "http://www.LOVD.nl/MYH11" "" "1" "7569" "4629" "160745" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/MYH11_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2011-01-13 00:00:00" "00006" "2015-02-14 22:07:57" "00000" "2025-08-04 10:32:03" ## 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}}" "00000656" "MYH11" "transcript variant SM2B" "004" "NM_001040113.1" "" "NP_001035202.1" "" "" "" "-107" "6835" "5838" "15796992" "15950887" "00000" "2012-09-13 12:44:44" "" "" "00025856" "MYH11" "transcript variant SM1A" "001" "NM_002474.2" "" "NP_002465.1" "" "" "" "-107" "6775" "5919" "15950887" "15796992" "00006" "2023-10-03 16:46:58" "" "" ## 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" "" "" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00169" "EDS" "Ehlers-Danlos syndrome (EDS)" "" "" "" "" "" "00006" "2013-08-01 11:03:44" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01302" "EDSVASC" "Ehlers-Danlos, vascular type syndrome (EDSVASC EDS4 EDSIV)" "AD" "130050" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01320" "AAT4" "aneurysm, aortic, thoracic, familial, type 4 (AAT4)" "" "132900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "07031" "MMIHS" "megacystis-microcolon-intestinal hypoperistalsis syndrome, type 2" "AR" "619351" "" "" "" "00006" "2023-10-03 16:56:35" "" "" "07032" "VSCM2" "myopathy, visceral, type 2" "AD" "619350" "" "" "" "00006" "2023-10-03 16:57:42" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MYH11" "01320" "MYH11" "07031" "MYH11" "07032" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00050510" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050546" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00065139" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "F" "?" "Switzerland" "00y05m" "0" "" "" "Europe" "SIDS089" "00291379" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291380" "" "" "" "142" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291381" "" "" "" "144" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291382" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301720" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "" "" "" "" "0" "" "" "" "17-0807" "00304496" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304497" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00318205" "" "" "" "1" "" "01233" "{PMID:Overwater 2018:29907982}" "The technique used was the custom NGS Gene panel." "" "" "Netherlands" "" "0" "" "" "" "Pat9" "00335728" "" "" "" "4" "" "03731" "{PMID:Chesneau 2021:34672437}" "4-generation family, 4 affected (2F, 2M)" "M" "no" "France" "" "0" "" "" "" "M00633" "00398098" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat36" "00398099" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat37" "00398160" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat105" "00398161" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat106" "00398162" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat107" "00398163" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat108" "00398164" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat109" "00398165" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat110" "00398166" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat111" "00398167" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat112" "00398168" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat113" "00436646" "" "" "" "1" "" "04571" "healthy female, MMIHS2 carrier" "" "M" "" "Spain" "" "0" "" "" "" "" "00453741" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV961" "00460948" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 28 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00050510" "00198" "00050546" "00198" "00065139" "02087" "00291379" "00198" "00291380" "00198" "00291381" "00198" "00291382" "00198" "00301720" "00198" "00304496" "00198" "00304497" "00198" "00318205" "00169" "00318205" "01302" "00335728" "01320" "00398098" "00198" "00398099" "00198" "00398160" "00198" "00398161" "00198" "00398162" "00198" "00398163" "00198" "00398164" "00198" "00398165" "00198" "00398166" "00198" "00398167" "00198" "00398168" "00198" "00436646" "00000" "00453741" "00152" "00460948" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00152, 00169, 00198, 01157, 01302, 01320, 02087, 07031, 07032 ## Count = 17 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{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}}" "0000037122" "00198" "00050510" "00006" "Isolated (sporadic)" "" "polydactyly (feet), cerebellar hypoplasia, feeding difficulties in infancy, abnormality of the nervous system, enlarged cisterna magna, global developmental delay, dandy-walker malformation, neonatal alloimmune thrombocytopenia, abnormality of the penis, abnormality of the tongue, upslanted palpebral fissure, epicanthus, abnormality of the lip, abnormality of the ear, abnormality of the umbilicus, abnormality of eye movement" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037158" "00198" "00050546" "00006" "Isolated (sporadic)" "" "intrauterine growth retardation, short stature, clubbing, feeding difficulties in infancy, iga deficiency, microcephaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000051244" "02087" "00065139" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000228818" "00198" "00301720" "00006" "Familial, autosomal recessive" "<0d" "mother (G5P1AB3, 27y), first pregnancy was spontaneous abortion at 2 months. The second pregnancy was terminated at 15wks due to a massively dilated bladder. The third pregnancy was IUFD at 7 months, delivered vaginally. The fourth pregnancy was terminated due to Potter sequence at 15wks. She presented in the current pregnancy at 16 weeks. Fetal ultrasound documented a massively dilated bladder with echogenic kidney and bilateral hydronephrosis with normal liquor. The patient was offered cordocentesis for whole exome sequencing and DNA banking. The procedure was followed by termination of pregnancy." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000291208" "00198" "00398098" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291209" "00198" "00398099" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291270" "00198" "00398160" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291271" "00198" "00398161" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291272" "00198" "00398162" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291273" "00198" "00398163" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291274" "00198" "00398164" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291275" "00198" "00398165" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291276" "00198" "00398166" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291277" "00198" "00398167" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291278" "00198" "00398168" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000342398" "00152" "00453741" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000050455" "00050510" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050491" "00050546" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000065290" "00065139" "1" "01602" "01602" "2016-05-19 14:12:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000292547" "00291379" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292548" "00291380" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292549" "00291381" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292550" "00291382" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302844" "00301720" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000305625" "00304496" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305626" "00304497" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000319386" "00318205" "1" "01233" "01233" "2018-04-07 22:13:36" "00085" "2020-02-17 12:57:01" "SEQ-NG" "DNA" "" "" "0000336957" "00335728" "1" "03731" "03731" "2021-03-08 16:30:19" "" "" "SEQ-NG-IT" "DNA;RNA" "Blood, Aorta" "1022/2042 reads, Confirmed by Sanger and RT-PCR/Sanger" "0000399341" "00398098" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399342" "00398099" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399403" "00398160" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399404" "00398161" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399405" "00398162" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399406" "00398163" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399407" "00398164" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399408" "00398165" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399409" "00398166" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399410" "00398167" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399411" "00398168" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000438129" "00436646" "1" "04571" "04571" "2023-09-26 17:53:10" "" "" "SEQ-NG-I" "DNA" "" "" "0000455353" "00453741" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000462580" "00460948" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{geneid}}" "0000050491" "EP300" "0000302844" "MYH11" "0000319386" "COL3A1" "0000336957" "ACTA2" "0000336957" "COL3A1" "0000336957" "FBN1" "0000336957" "MFAP5" "0000336957" "MYH11" "0000336957" "MYLK" "0000336957" "NOTCH1" "0000336957" "PRKG1" "0000336957" "SKI" "0000336957" "SLC2A10" "0000336957" "TGFB2" "0000336957" "TGFB3" "0000336957" "TGFBR1" "0000336957" "TGFBR2" "0000399341" "MYH11" "0000399342" "MYH11" "0000399403" "MYH11" "0000399404" "MYH11" "0000399405" "MYH11" "0000399406" "MYH11" "0000399407" "MYH11" "0000399408" "MYH11" "0000399409" "MYH11" "0000399410" "MYH11" "0000399411" "MYH11" "0000462580" "MYH11" ## 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 = 649 "{{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}}" "0000013530" "3" "50" "16" "15894329" "15894329" "subst" "0" "00037" "MYH11_000001" "g.15894329A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15800472A>G" "" "VUS" "" "0000079435" "21" "90" "16" "15494704" "16388460" "del" "0" "00006" "MYH11_000003" "g.15494704_16388460del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "Germline" "" "" "0" "" "" "g.15400847_16294603del" "" "pathogenic" "" "0000079471" "0" "90" "16" "14805381" "16561151" "dup" "0" "00006" "MYH11_000002" "g.14805381_16561151dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "g.14711524_16467294dup" "" "pathogenic" "" "0000096965" "0" "50" "16" "15826469" "15826469" "subst" "2.03054E-5" "01602" "MYH11_000004" "g.15826469G>C" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Unknown" "?" "rs199800922" "0" "" "" "g.15732612G>C" "" "VUS" "" "0000249203" "0" "10" "16" "15818141" "15818141" "subst" "0.507757" "02325" "MYH11_000054" "g.15818141A>C" "" "" "" "MYH11(NM_001040113.1):c.4262_4263delCTinsCG (p.A1421=), MYH11(NM_001040113.2):c.4263T>G (p.A1421=), NDE1(NM_001143979.2):c.*33A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724284A>C" "" "benign" "" "0000249569" "0" "30" "16" "15758733" "15758733" "subst" "0" "02325" "NDE1_000004" "g.15758733A>C" "" "" "" "NDE1(NM_001143979.2):c.83+15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15664876A>C" "" "likely benign" "" "0000250003" "0" "10" "16" "15870032" "15870032" "subst" "0.0292035" "02329" "MYH11_000115" "g.15870032A>G" "" "" "" "MYH11(NM_001040113.2):c.813T>C (p.Y271=), MYH11(NM_002474.3):c.792T>C (p.(Tyr264=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15776175A>G" "" "benign" "" "0000250007" "0" "10" "16" "15818842" "15818842" "subst" "0.0395436" "02329" "MYH11_000064" "g.15818842A>G" "" "" "" "MYH11(NM_001040113.1):c.3887T>C (p.V1296A), MYH11(NM_001040113.2):c.3887T>C (p.V1296A), MYH11(NM_002474.3):c.3866T>C (p.(Val1289Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724985A>G" "" "benign" "" "0000250047" "0" "10" "16" "15818141" "15818141" "subst" "0.507757" "02329" "MYH11_000054" "g.15818141A>C" "" "" "" "MYH11(NM_001040113.1):c.4262_4263delCTinsCG (p.A1421=), MYH11(NM_001040113.2):c.4263T>G (p.A1421=), NDE1(NM_001143979.2):c.*33A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724284A>C" "" "benign" "" "0000250126" "0" "10" "16" "15850204" "15850204" "subst" "0.434305" "02329" "MYH11_000101" "g.15850204A>G" "" "" "" "MYH11(NM_001040113.2):c.1764T>C (p.A588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15756347A>G" "" "benign" "" "0000250318" "0" "30" "16" "15850204" "15850204" "subst" "0" "02329" "MYH11_000102" "g.15850204A>C" "" "" "" "MYH11(NM_001040113.2):c.1764T>G (p.A588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15756347A>C" "" "likely benign" "" "0000250476" "0" "30" "16" "15892553" "15892553" "subst" "2.44021E-5" "02329" "MYH11_000124" "g.15892553A>G" "" "" "" "MYH11(NM_001040113.2):c.503-9T>C, MYH11(NM_002474.3):c.503-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15798696A>G" "" "likely benign" "" "0000250820" "0" "30" "16" "15878545" "15878545" "subst" "0.000418675" "02326" "MYH11_000117" "g.15878545A>G" "" "" "" "MYH11(NM_001040113.1):c.654+10T>C, MYH11(NM_001040113.2):c.654+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15784688A>G" "" "likely benign" "" "0000250863" "0" "10" "16" "15870032" "15870032" "subst" "0.0292035" "02326" "MYH11_000115" "g.15870032A>G" "" "" "" "MYH11(NM_001040113.2):c.813T>C (p.Y271=), MYH11(NM_002474.3):c.792T>C (p.(Tyr264=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15776175A>G" "" "benign" "" "0000250867" "0" "10" "16" "15818842" "15818842" "subst" "0.0395436" "02326" "MYH11_000064" "g.15818842A>G" "" "" "" "MYH11(NM_001040113.1):c.3887T>C (p.V1296A), MYH11(NM_001040113.2):c.3887T>C (p.V1296A), MYH11(NM_002474.3):c.3866T>C (p.(Val1289Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724985A>G" "" "benign" "" "0000254039" "0" "30" "16" "15878545" "15878545" "subst" "0.000418675" "01943" "MYH11_000117" "g.15878545A>G" "" "" "" "MYH11(NM_001040113.1):c.654+10T>C, MYH11(NM_001040113.2):c.654+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15784688A>G" "" "likely benign" "" "0000254635" "0" "30" "16" "15832512" "15832512" "subst" "0.000434553" "01943" "MYH11_000080" "g.15832512A>G" "" "" "" "MYH11(NM_001040113.1):c.3052T>C (p.L1018=), MYH11(NM_001040113.2):c.3052T>C (p.L1018=), MYH11(NM_002474.3):c.3031T>C (p.L1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15738655A>G" "" "likely benign" "" "0000254963" "0" "30" "16" "15832441" "15832441" "subst" "0.00101612" "01943" "MYH11_000078" "g.15832441A>G" "" "" "" "MYH11(NM_001040113.1):c.3123T>C (p.S1041=), MYH11(NM_001040113.2):c.3123T>C (p.S1041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15738584A>G" "" "likely benign" "" "0000256305" "0" "50" "16" "15808802" "15808802" "subst" "0" "01943" "MYH11_000013" "g.15808802A>G" "" "" "" "MYH11(NM_001040113.1):c.5771T>C (p.M1924T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15714945A>G" "" "VUS" "" "0000256373" "0" "50" "16" "15788082" "15788082" "subst" "8.14598E-6" "01943" "NDE1_000013" "g.15788082A>G" "" "" "" "NDE1(NM_001143979.1):c.764A>G (p.N255S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15694225A>G" "" "VUS" "" "0000283762" "0" "10" "16" "15865472" "15865472" "subst" "0.108338" "02329" "MYH11_000112" "g.15865472G>A" "" "" "" "MYH11(NM_001040113.1):c.1008C>T (p.T336=), MYH11(NM_001040113.2):c.1008C>T (p.T336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15771615G>A" "" "benign" "" "0000283763" "0" "50" "16" "15857670" "15857670" "subst" "8.12783E-6" "02329" "MYH11_000110" "g.15857670G>T" "" "" "" "MYH11(NM_001040113.2):c.1133C>A (p.S378Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15763813G>T" "" "VUS" "" "0000283764" "0" "10" "16" "15853596" "15853596" "subst" "0.409252" "02329" "MYH11_000109" "g.15853596C>G" "" "" "" "MYH11(NM_001040113.2):c.1270-11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15759739C>G" "" "benign" "" "0000283765" "0" "30" "16" "15932098" "15932098" "subst" "0.000602597" "02329" "MYH11_000136" "g.15932098C>T" "" "" "" "MYH11(NM_001040113.1):c.12G>A (p.K4=), MYH11(NM_001040113.2):c.12G>A (p.K4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15838241C>T" "" "likely benign" "" "0000283766" "0" "10" "16" "15931975" "15931975" "subst" "0.0121589" "02329" "MYH11_000133" "g.15931975G>A" "" "" "" "MYH11(NM_001040113.2):c.135C>T (p.F45=), MYH11(NM_002474.3):c.135C>T (p.(Phe45=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15838118G>A" "" "benign" "" "0000283767" "0" "30" "16" "15851846" "15851846" "subst" "3.24863E-5" "02329" "MYH11_000107" "g.15851846G>A" "" "" "" "MYH11(NM_001040113.1):c.1434C>T (p.F478=), MYH11(NM_001040113.2):c.1434C>T (p.F478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15757989G>A" "" "likely benign" "" "0000283768" "0" "10" "16" "15851840" "15851840" "subst" "0.00152277" "02329" "MYH11_000106" "g.15851840C>T" "" "" "" "MYH11(NM_001040113.1):c.1440G>A (p.Q480=), MYH11(NM_001040113.2):c.1440G>A (p.Q480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15757983C>T" "" "benign" "" "0000283769" "0" "30" "16" "15851690" "15851690" "subst" "0" "02329" "MYH11_000104" "g.15851690C>T" "" "" "" "MYH11(NM_001040113.1):c.1590G>A (p.E530=), MYH11(NM_001040113.2):c.1590G>A (p.E530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15757833C>T" "" "likely benign" "" "0000283770" "0" "30" "16" "15844048" "15844048" "subst" "0.000710845" "02329" "MYH11_000096" "g.15844048G>A" "" "" "" "MYH11(NM_001040113.1):c.2026C>T (p.R676C), MYH11(NM_001040113.2):c.2026C>T (p.R676C), MYH11(NM_002474.3):c.2005C>T (p.(Arg669Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15750191G>A" "" "likely benign" "" "0000283771" "0" "30" "16" "15844004" "15844004" "subst" "0.000513418" "02329" "MYH11_000095" "g.15844004G>A" "" "" "" "MYH11(NM_001040113.1):c.2070C>T (p.H690=), MYH11(NM_001040113.2):c.2070C>T (p.H690=), MYH11(NM_002474.3):c.2049C>T (p.H683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15750147G>A" "" "likely benign" "" "0000283772" "0" "10" "16" "15842023" "15842023" "subst" "0.0641945" "02329" "MYH11_000094" "g.15842023G>A" "" "" "" "MYH11(NM_001040113.2):c.2082C>T (p.S694=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15748166G>A" "" "benign" "" "0000283773" "0" "10" "16" "15842005" "15842005" "subst" "0.015933" "02329" "MYH11_000092" "g.15842005G>A" "" "" "" "MYH11(NM_001040113.2):c.2100C>T (p.F700=), MYH11(NM_002474.3):c.2079C>T (p.(Phe693=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15748148G>A" "" "benign" "" "0000283774" "0" "10" "16" "15841773" "15841773" "subst" "0.0525478" "02329" "MYH11_000091" "g.15841773G>A" "" "" "" "MYH11(NM_001040113.2):c.2229C>T (p.I743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15747916G>A" "" "benign" "" "0000283775" "0" "30" "16" "15841453" "15841453" "subst" "8.12123E-6" "02329" "MYH11_000090" "g.15841453C>T" "" "" "" "MYH11(NM_001040113.2):c.2406G>A (p.A802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15747596C>T" "" "likely benign" "" "0000283776" "0" "10" "16" "15839103" "15839103" "subst" "0.00327245" "02329" "MYH11_000089" "g.15839103G>T" "" "" "" "MYH11(NM_001040113.2):c.2433-9C>A, MYH11(NM_002474.3):c.2412-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15745246G>T" "" "benign" "" "0000283777" "0" "10" "16" "15839034" "15839034" "subst" "0.299175" "02329" "MYH11_000087" "g.15839034G>A" "" "" "" "MYH11(NM_001040113.2):c.2493C>T (p.A831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15745177G>A" "" "benign" "" "0000283778" "0" "30" "16" "15838969" "15838969" "subst" "0.00377432" "02329" "MYH11_000086" "g.15838969T>C" "" "" "" "MYH11(NM_001040113.2):c.2541+17A>G, MYH11(NM_002474.3):c.2520+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15745112T>C" "" "likely benign" "" "0000283779" "0" "30" "16" "15835377" "15835377" "subst" "0.000209719" "02329" "MYH11_000085" "g.15835377C>T" "" "" "" "MYH11(NM_001040113.1):c.2823G>A (p.E941=), MYH11(NM_001040113.2):c.2823G>A (p.E941=), MYH11(NM_002474.3):c.2802G>A (p.E934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15741520C>T" "" "likely benign" "" "0000283780" "0" "30" "16" "15834012" "15834012" "subst" "0.000353268" "02329" "MYH11_000082" "g.15834012C>A" "" "" "" "MYH11(NM_001040113.2):c.2914G>T (p.A972S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15740155C>A" "" "likely benign" "" "0000283781" "0" "30" "16" "15931810" "15931810" "subst" "0.0001665" "02329" "MYH11_000130" "g.15931810G>A" "" "" "" "MYH11(NM_001040113.1):c.300C>T (p.S100=), MYH11(NM_001040113.2):c.300C>T (p.S100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15837953G>A" "" "likely benign" "" "0000283782" "0" "10" "16" "15829419" "15829419" "subst" "0.00281421" "02329" "MYH11_000075" "g.15829419C>T" "" "" "" "MYH11(NM_001040113.1):c.3331G>A (p.(Ala1111Thr)), MYH11(NM_001040113.2):c.3331G>A (p.A1111T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15735562C>T" "" "benign" "" "0000283783" "0" "10" "16" "15820863" "15820863" "subst" "0.246889" "02329" "MYH11_000071" "g.15820863C>T" "" "" "" "MYH11(NM_001040113.2):c.3721G>A (p.A1241T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15727006C>T" "" "benign" "" "0000283784" "0" "30" "16" "15820689" "15820689" "subst" "1.64924E-5" "02329" "MYH11_000065" "g.15820689C>T" "" "" "" "MYH11(NM_001040113.2):c.3879+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15726832C>T" "" "likely benign" "" "0000283785" "0" "30" "16" "15820689" "15820689" "subst" "0.00170284" "02329" "MYH11_000066" "g.15820689C>G" "" "" "" "MYH11(NM_001040113.2):c.3879+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15726832C>G" "" "likely benign" "" "0000283786" "0" "10" "16" "15917227" "15917227" "subst" "0.00238358" "02329" "MYH11_000128" "g.15917227T>C" "" "" "" "MYH11(NM_001040113.2):c.387A>G (p.K129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15823370T>C" "" "benign" "" "0000283787" "0" "10" "16" "15818780" "15818780" "subst" "0.000796392" "02329" "MYH11_000062" "g.15818780C>T" "" "" "" "MYH11(NM_001040113.1):c.3949G>A (p.V1317M, p.(Val1317Met)), MYH11(NM_001040113.2):c.3949G>A (p.V1317M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724923C>T" "" "benign" "" "0000283788" "0" "10" "16" "15818653" "15818653" "subst" "0.0351763" "02329" "MYH11_000061" "g.15818653G>A" "" "" "" "MYH11(NM_001040113.2):c.3988C>T (p.L1330=), MYH11(NM_002474.3):c.3967C>T (p.(Leu1323=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724796G>A" "" "benign" "" "0000283789" "0" "30" "16" "15818525" "15818525" "subst" "7.32332E-5" "02329" "MYH11_000058" "g.15818525G>A" "" "" "" "MYH11(NM_001040113.2):c.4116C>T (p.H1372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724668G>A" "" "likely benign" "" "0000283790" "0" "30" "16" "15818496" "15818496" "del" "0" "02329" "MYH11_000057" "g.15818496del" "" "" "" "MYH11(NM_001040113.1):c.4137+11delC, MYH11(NM_001040113.2):c.4137+11delC, MYH11(NM_002474.3):c.4116+11delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724639del" "" "likely benign" "" "0000283791" "0" "10" "16" "15818225" "15818225" "subst" "0.00886554" "02329" "MYH11_000056" "g.15818225G>A" "" "" "" "MYH11(NM_001040113.1):c.4179C>T (p.T1393=), MYH11(NM_001040113.2):c.4179C>T (p.T1393=), MYH11(NM_002474.3):c.4158C>T (p.(Thr1386=), p.T1386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724368G>A" "" "benign" "" "0000283792" "0" "10" "16" "15917197" "15917197" "subst" "0.0995972" "02329" "MYH11_000127" "g.15917197G>A" "" "" "" "MYH11(NM_001040113.2):c.417C>T (p.V139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15823340G>A" "" "benign" "" "0000283793" "0" "30" "16" "15818186" "15818186" "subst" "0.00030462" "02329" "MYH11_000055" "g.15818186C>T" "" "" "" "MYH11(NM_001040113.2):c.4218G>A (p.K1406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724329C>T" "" "likely benign" "" "0000283794" "0" "30" "16" "15818008" "15818008" "subst" "3.65646E-5" "02329" "MYH11_000048" "g.15818008C>T" "" "" "" "MYH11(NM_001040113.1):c.4386+10G>A, MYH11(NM_001040113.2):c.4386+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724151C>T" "" "likely benign" "" "0000283795" "0" "50" "16" "15815454" "15815454" "subst" "4.87314E-5" "02329" "MYH11_000046" "g.15815454G>A" "" "" "" "MYH11(NM_001040113.1):c.4424C>T (p.A1475V), MYH11(NM_001040113.2):c.4424C>T (p.A1475V), MYH11(NM_002474.3):c.4403C>T (p.(Ala1468Val), p.A1468V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15721597G>A" "" "VUS" "" "0000283796" "0" "10" "16" "15917161" "15917161" "subst" "0.000897418" "02329" "MYH11_000126" "g.15917161C>T" "" "" "" "MYH11(NM_001040113.1):c.453G>A (p.P151=), MYH11(NM_001040113.2):c.453G>A (p.P151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15823304C>T" "" "benign" "" "0000283797" "0" "10" "16" "15815335" "15815335" "subst" "0.00133593" "02329" "MYH11_000044" "g.15815335T>C" "" "" "" "MYH11(NM_001040113.1):c.4543A>G (p.M1515V), MYH11(NM_001040113.2):c.4543A>G (p.M1515V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15721478T>C" "" "benign" "" "0000283798" "0" "30" "16" "15815324" "15815324" "subst" "9.33927E-5" "02329" "MYH11_000043" "g.15815324G>A" "" "" "" "MYH11(NM_001040113.2):c.4554C>T (p.A1518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15721467G>A" "" "likely benign" "" "0000283799" "0" "30" "16" "15815276" "15815276" "subst" "0.00135633" "02329" "MYH11_000042" "g.15815276T>C" "" "" "" "MYH11(NM_001040113.1):c.4599+3A>G, MYH11(NM_001040113.2):c.4599+3A>G, MYH11(NM_002474.3):c.4578+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15721419T>C" "" "likely benign" "" "0000283800" "0" "10" "16" "15814921" "15814921" "subst" "0.00318391" "02329" "MYH11_000041" "g.15814921C>T" "" "" "" "MYH11(NM_001040113.2):c.4600-13G>A, MYH11(NM_002474.3):c.4579-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15721064C>T" "" "benign" "" "0000283801" "0" "30" "16" "15814824" "15814824" "subst" "6.49725E-5" "02329" "MYH11_000039" "g.15814824G>A" "" "" "" "MYH11(NM_001040113.2):c.4684C>T (p.L1562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15720967G>A" "" "likely benign" "" "0000283802" "0" "30" "16" "15814807" "15814807" "subst" "6.09122E-5" "02329" "MYH11_000037" "g.15814807G>A" "" "" "" "MYH11(NM_001040113.1):c.4701C>T (p.D1567=), MYH11(NM_002474.3):c.4680C>T (p.D1560=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15720950G>A" "" "likely benign" "" "0000283803" "0" "10" "16" "15814692" "15814692" "subst" "0.00194147" "02329" "MYH11_000035" "g.15814692G>A" "" "" "" "MYH11(NM_001040113.2):c.4812+4C>T, MYH11(NM_002474.3):c.4791+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15720835G>A" "" "benign" "" "0000283804" "0" "10" "16" "15892561" "15892563" "del" "0" "02329" "MYH11_000125" "g.15892561_15892563del" "" "" "" "MYH11(NM_001040113.2):c.503-14_503-12delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15798704_15798706del" "" "benign" "" "0000283805" "0" "10" "16" "15812309" "15812309" "subst" "0.037472" "02329" "MYH11_000033" "g.15812309G>A" "" "" "" "MYH11(NM_001040113.2):c.5193-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15718452G>A" "" "benign" "" "0000283806" "0" "10" "16" "15812300" "15812300" "subst" "0.00165102" "02329" "MYH11_000032" "g.15812300G>A" "" "" "" "MYH11(NM_001040113.2):c.5193-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15718443G>A" "" "benign" "" "0000283807" "0" "50" "16" "15812195" "15812195" "subst" "0" "02329" "MYH11_000028" "g.15812195G>A" "" "" "" "MYH11(NM_001040113.2):c.5293C>T (p.R1765W), MYH11(NM_002474.3):c.5272C>T (p.R1758W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15718338G>A" "" "VUS" "" "0000283808" "0" "30" "16" "15892497" "15892497" "subst" "0" "02329" "MYH11_000123" "g.15892497G>A" "" "" "" "MYH11(NM_001040113.2):c.530+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15798640G>A" "" "likely benign" "" "0000283809" "0" "30" "16" "15880586" "15880586" "subst" "1.62935E-5" "02329" "MYH11_000121" "g.15880586G>A" "" "" "" "MYH11(NM_001040113.2):c.534C>T (p.G178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15786729G>A" "" "likely benign" "" "0000283810" "0" "30" "16" "15811165" "15811165" "subst" "0.000635121" "02329" "MYH11_000026" "g.15811165G>A" "" "" "" "MYH11(NM_001040113.2):c.5357C>T (p.T1786M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15717308G>A" "" "likely benign" "" "0000283811" "0" "10" "16" "15811131" "15811131" "subst" "0.0141192" "02329" "MYH11_000025" "g.15811131G>A" "" "" "" "MYH11(NM_001040113.2):c.5391C>T (p.L1797=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15717274G>A" "" "benign" "" "0000283812" "0" "10" "16" "15811062" "15811062" "subst" "0.486816" "02329" "MYH11_000023" "g.15811062C>T" "" "" "" "MYH11(NM_001040113.1):c.5460G>A (p.K1820=), MYH11(NM_001040113.2):c.5460G>A (p.K1820=), NDE1(NM_001143979.2):c.948-6986C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15717205C>T" "" "benign" "" "0000283813" "0" "10" "16" "15811023" "15811023" "subst" "0.486324" "02329" "MYH11_000021" "g.15811023C>T" "" "" "" "MYH11(NM_001040113.1):c.5499G>A (p.L1833=), MYH11(NM_001040113.2):c.5499G>A (p.L1833=), NDE1(NM_001143979.2):c.948-7025C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15717166C>T" "" "benign" "" "0000283814" "0" "30" "16" "15810990" "15810990" "subst" "8.14425E-6" "02329" "MYH11_000019" "g.15810990C>A" "" "" "" "MYH11(NM_001040113.1):c.5525+7G>T, MYH11(NM_001040113.2):c.5525+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15717133C>A" "" "likely benign" "" "0000283815" "0" "10" "16" "15809117" "15809117" "subst" "0.0341739" "02329" "MYH11_000018" "g.15809117C>T" "" "" "" "MYH11(NM_001040113.2):c.5538G>A (p.A1846=), MYH11(NM_002474.3):c.5517G>A (p.(Ala1839=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15715260C>T" "" "benign" "" "0000283816" "0" "30" "16" "15809068" "15809068" "subst" "0.0012754" "02329" "MYH11_000017" "g.15809068G>A" "" "" "" "MYH11(NM_001040113.1):c.5587C>T (p.L1863=), MYH11(NM_001040113.2):c.5587C>T (p.L1863=), MYH11(NM_002474.3):c.5566C>T (p.L1856=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15715211G>A" "" "likely benign" "" "0000283817" "0" "30" "16" "15808945" "15808945" "subst" "0.000220576" "02329" "MYH11_000015" "g.15808945C>T" "" "" "" "MYH11(NM_001040113.1):c.5635-7G>A, MYH11(NM_001040113.2):c.5635-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15715088C>T" "" "likely benign" "" "0000283818" "0" "30" "16" "15808755" "15808755" "subst" "0.000303381" "02329" "MYH11_000012" "g.15808755G>A" "" "" "" "MYH11(NM_001040113.2):c.5807+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15714898G>A" "" "likely benign" "" "0000283819" "0" "30" "16" "15802687" "15802687" "subst" "0.00126718" "02329" "MYH11_000007" "g.15802687G>T" "" "" "" "MYH11(NM_001040113.1):c.5819C>A (p.P1940Q, p.(Pro1940Gln)), MYH11(NM_001040113.2):c.5819C>A (p.P1940Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15708830G>T" "" "likely benign" "" "0000283820" "0" "30" "16" "15802687" "15802687" "subst" "0.000393264" "02329" "MYH11_000008" "g.15802687G>C" "" "" "" "MYH11(NM_001040113.1):c.5819C>G (p.P1940R), MYH11(NM_001040113.2):c.5819C>G (p.P1940R), MYH11(NM_002474.3):c.5787-4707C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15708830G>C" "" "likely benign" "" "0000283821" "0" "30" "16" "15880535" "15880535" "subst" "6.09266E-5" "02329" "MYH11_000120" "g.15880535C>T" "" "" "" "MYH11(NM_002474.3):c.585G>A (p.L195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15786678C>T" "" "likely benign" "" "0000283822" "0" "30" "16" "15878587" "15878587" "subst" "9.75848E-5" "02329" "MYH11_000118" "g.15878587C>T" "" "" "" "MYH11(NM_001040113.2):c.634-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15784730C>T" "" "likely benign" "" "0000286935" "0" "50" "16" "15851869" "15851869" "subst" "8.12288E-6" "02326" "MYH11_000108" "g.15851869G>C" "" "" "" "MYH11(NM_001040113.1):c.1423-12C>G, MYH11(NM_001040113.2):c.1423-12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15758012G>C" "" "VUS" "" "0000286936" "0" "30" "16" "15850215" "15850215" "subst" "0.000613283" "02326" "MYH11_000103" "g.15850215T>C" "" "" "" "MYH11(NM_001040113.2):c.1753A>G (p.I585V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15756358T>C" "" "likely benign" "" "0000286937" "0" "30" "16" "15931893" "15931893" "subst" "0.000312668" "02326" "MYH11_000132" "g.15931893T>G" "" "" "" "MYH11(NM_001040113.1):c.217A>C (p.(Lys73Gln)), MYH11(NM_001040113.2):c.217A>C (p.K73Q), MYH11(NM_002474.3):c.217A>C (p.K73Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15838036T>G" "" "likely benign" "" "0000286938" "0" "10" "16" "15838969" "15838969" "subst" "0.00377432" "02326" "MYH11_000086" "g.15838969T>C" "" "" "" "MYH11(NM_001040113.2):c.2541+17A>G, MYH11(NM_002474.3):c.2520+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15745112T>C" "" "benign" "" "0000286939" "0" "30" "16" "15834012" "15834012" "subst" "0.000353268" "02326" "MYH11_000082" "g.15834012C>A" "" "" "" "MYH11(NM_001040113.2):c.2914G>T (p.A972S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15740155C>A" "" "likely benign" "" "0000286940" "0" "30" "16" "15931819" "15931819" "subst" "0.00182332" "02326" "MYH11_000131" "g.15931819G>A" "" "" "" "MYH11(NM_001040113.1):c.291C>T (p.N97=), MYH11(NM_001040113.2):c.291C>T (p.N97=), MYH11(NM_002474.3):c.291C>T (p.N97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15837962G>A" "" "likely benign" "" "0000286941" "0" "30" "16" "15832563" "15832564" "del" "0" "02326" "MYH11_000081" "g.15832563_15832564del" "" "" "" "MYH11(NM_001040113.2):c.3019-18_3019-17delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15738706_15738707del" "" "likely benign" "" "0000286942" "0" "30" "16" "15829201" "15829201" "subst" "8.54965E-5" "02326" "MYH11_000074" "g.15829201G>T" "" "" "" "MYH11(NM_001040113.2):c.3527+22C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15735344G>T" "" "likely benign" "" "0000286943" "0" "50" "16" "15820797" "15820797" "subst" "0.000301082" "02326" "MYH11_000069" "g.15820797T>G" "" "" "" "MYH11(NM_001040113.1):c.3787A>C (p.K1263Q), MYH11(NM_001040113.2):c.3787A>C (p.K1263Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15726940T>G" "" "VUS" "" "0000286944" "0" "30" "16" "15818647" "15818647" "subst" "0.000646594" "02326" "MYH11_000060" "g.15818647G>C" "" "" "" "MYH11(NM_001040113.1):c.3994C>G (p.Q1332E), MYH11(NM_001040113.2):c.3994C>G (p.Q1332E), MYH11(NM_002474.3):c.3973C>G (p.Q1325E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724790G>C" "" "likely benign" "" "0000286945" "0" "10" "16" "15818225" "15818225" "subst" "0.00886554" "02326" "MYH11_000056" "g.15818225G>A" "" "" "" "MYH11(NM_001040113.1):c.4179C>T (p.T1393=), MYH11(NM_001040113.2):c.4179C>T (p.T1393=), MYH11(NM_002474.3):c.4158C>T (p.(Thr1386=), p.T1386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724368G>A" "" "benign" "" "0000286946" "0" "30" "16" "15817991" "15817991" "subst" "0" "02326" "MYH11_000047" "g.15817991G>C" "" "" "" "MYH11(NM_001040113.2):c.4386+27C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724134G>C" "" "likely benign" "" "0000286947" "0" "30" "16" "15815276" "15815276" "subst" "0.00135633" "02326" "MYH11_000042" "g.15815276T>C" "" "" "" "MYH11(NM_001040113.1):c.4599+3A>G, MYH11(NM_001040113.2):c.4599+3A>G, MYH11(NM_002474.3):c.4578+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15721419T>C" "" "likely benign" "" "0000286948" "0" "30" "16" "15814914" "15814914" "subst" "9.35865E-5" "02326" "MYH11_000040" "g.15814914G>A" "" "" "" "MYH11(NM_001040113.2):c.4600-6C>T, MYH11(NM_002474.3):c.4579-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15721057G>A" "" "likely benign" "" "0000286949" "0" "10" "16" "15814717" "15814717" "subst" "0.0138879" "02326" "MYH11_000036" "g.15814717C>T" "" "" "" "MYH11(NM_001040113.1):c.4791G>A (p.K1597=), MYH11(NM_001040113.2):c.4791G>A (p.K1597=), MYH11(NM_002474.3):c.4770G>A (p.(Lys1590=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15720860C>T" "" "benign" "" "0000286950" "0" "10" "16" "15892561" "15892563" "del" "0" "02326" "MYH11_000125" "g.15892561_15892563del" "" "" "" "MYH11(NM_001040113.2):c.503-14_503-12delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15798704_15798706del" "" "benign" "" "0000286951" "0" "10" "16" "15812309" "15812309" "subst" "0.037472" "02326" "MYH11_000033" "g.15812309G>A" "" "" "" "MYH11(NM_001040113.2):c.5193-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15718452G>A" "" "benign" "" "0000286952" "0" "30" "16" "15812291" "15812291" "subst" "0" "02326" "MYH11_000031" "g.15812291C>T" "" "" "" "MYH11(NM_001040113.1):c.5197G>A (p.(Ala1733Thr)), MYH11(NM_001040113.2):c.5197G>A (p.A1733T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15718434C>T" "" "likely benign" "" "0000286953" "0" "50" "16" "15812234" "15812234" "subst" "0" "02326" "MYH11_000029" "g.15812234G>T" "" "" "" "MYH11(NM_001040113.2):c.5254C>A (p.L1752M), MYH11(NM_002474.3):c.5233C>A (p.(Leu1745Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15718377G>T" "" "VUS" "" "0000286954" "0" "10" "16" "15880797" "15880797" "subst" "0" "02326" "MYH11_000122" "g.15880797C>A" "" "" "" "MYH11(NM_001040113.2):c.531-208G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15786940C>A" "" "benign" "" "0000286955" "0" "30" "16" "15811209" "15811209" "subst" "0.00596626" "02326" "MYH11_000027" "g.15811209G>A" "" "" "" "MYH11(NM_001040113.1):c.5317-4C>T (p.?), MYH11(NM_001040113.2):c.5317-4C>T, MYH11(NM_002474.3):c.5296-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15717352G>A" "" "likely benign" "" "0000286956" "0" "30" "16" "15810990" "15810990" "subst" "8.14425E-6" "02326" "MYH11_000019" "g.15810990C>A" "" "" "" "MYH11(NM_001040113.1):c.5525+7G>T, MYH11(NM_001040113.2):c.5525+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15717133C>A" "" "likely benign" "" "0000286957" "0" "30" "16" "15808946" "15808946" "subst" "3.67752E-5" "02326" "MYH11_000016" "g.15808946G>A" "" "" "" "MYH11(NM_001040113.1):c.5635-8C>T, MYH11(NM_001040113.2):c.5635-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15715089G>A" "" "likely benign" "" "0000286958" "0" "10" "16" "15808876" "15808876" "subst" "0.00502288" "02326" "MYH11_000014" "g.15808876C>G" "" "" "" "MYH11(NM_001040113.1):c.5697G>C (p.E1899D), MYH11(NM_001040113.2):c.5697G>C (p.E1899D), MYH11(NM_002474.3):c.5676G>C (p.E1892D), NDE1(NM_001143979...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15715019C>G" "" "benign" "" "0000286959" "0" "30" "16" "15797967" "15797967" "subst" "0.00136856" "02326" "MYH11_000006" "g.15797967T>A" "" "" "" "MYH11(NM_001040113.1):c.*22A>T (p.(=)), MYH11(NM_001040114.1):c.5821A>T (p.T1941S), MYH11(NM_002474.3):c.5800A>T (p.T1934S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15704110T>A" "" "likely benign" "" "0000286960" "0" "30" "16" "15878587" "15878587" "subst" "9.75848E-5" "02326" "MYH11_000118" "g.15878587C>T" "" "" "" "MYH11(NM_001040113.2):c.634-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15784730C>T" "" "likely benign" "" "0000286961" "0" "30" "16" "15865545" "15865545" "subst" "0.000645801" "02326" "MYH11_000114" "g.15865545T>C" "" "" "" "MYH11(NM_001040113.1):c.935A>G (p.N312S), MYH11(NM_001040113.2):c.935A>G (p.N312S), MYH11(NM_002474.3):c.914A>G (p.N305S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15771688T>C" "" "likely benign" "" "0000292404" "0" "30" "16" "15865472" "15865472" "subst" "0.108338" "01943" "MYH11_000112" "g.15865472G>A" "" "" "" "MYH11(NM_001040113.1):c.1008C>T (p.T336=), MYH11(NM_001040113.2):c.1008C>T (p.T336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15771615G>A" "" "likely benign" "" "0000292405" "0" "50" "16" "15931991" "15931991" "subst" "2.03593E-5" "01943" "MYH11_000134" "g.15931991G>A" "" "" "" "MYH11(NM_001040113.1):c.119C>T (p.S40L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15838134G>A" "" "VUS" "" "0000292406" "0" "30" "16" "15932098" "15932098" "subst" "0.000602597" "01943" "MYH11_000136" "g.15932098C>T" "" "" "" "MYH11(NM_001040113.1):c.12G>A (p.K4=), MYH11(NM_001040113.2):c.12G>A (p.K4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15838241C>T" "" "likely benign" "" "0000292407" "0" "50" "16" "15851757" "15851757" "subst" "0.000194908" "01943" "MYH11_000105" "g.15851757C>T" "" "" "" "MYH11(NM_001040113.1):c.1523G>A (p.R508H), MYH11(NM_001040113.2):c.1523G>A (p.R508H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15757900C>T" "" "VUS" "" "0000292408" "0" "30" "16" "15851690" "15851690" "subst" "0" "01943" "MYH11_000104" "g.15851690C>T" "" "" "" "MYH11(NM_001040113.1):c.1590G>A (p.E530=), MYH11(NM_001040113.2):c.1590G>A (p.E530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15757833C>T" "" "likely benign" "" "0000292409" "0" "30" "16" "15847282" "15847282" "subst" "8.1211E-6" "01943" "MYH11_000100" "g.15847282G>A" "" "" "" "MYH11(NM_001040113.1):c.1854C>T (p.S618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15753425G>A" "" "likely benign" "" "0000292410" "0" "50" "16" "15844177" "15844177" "subst" "0" "01943" "MYH11_000099" "g.15844177C>T" "" "" "" "MYH11(NM_001040113.1):c.1897G>A (p.V633M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15750320C>T" "" "VUS" "" "0000292411" "0" "50" "16" "15844140" "15844140" "subst" "0.000106363" "01943" "MYH11_000097" "g.15844140G>A" "" "" "" "MYH11(NM_001040113.1):c.1934C>T (p.S645L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15750283G>A" "" "VUS" "" "0000292412" "0" "30" "16" "15844004" "15844004" "subst" "0.000513418" "01943" "MYH11_000095" "g.15844004G>A" "" "" "" "MYH11(NM_001040113.1):c.2070C>T (p.H690=), MYH11(NM_001040113.2):c.2070C>T (p.H690=), MYH11(NM_002474.3):c.2049C>T (p.H683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15750147G>A" "" "likely benign" "" "0000292413" "0" "50" "16" "15842009" "15842009" "subst" "0.000252316" "01943" "MYH11_000093" "g.15842009G>A" "" "" "" "MYH11(NM_001040113.1):c.2096C>T (p.A699V), MYH11(NM_001040113.2):c.2096C>T (p.A699V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15748152G>A" "" "VUS" "" "0000292414" "0" "30" "16" "15835356" "15835356" "subst" "1.23595E-5" "01943" "MYH11_000084" "g.15835356T>C" "" "" "" "MYH11(NM_001040113.1):c.2844A>G (p.L948=), MYH11(NM_001040113.2):c.2844A>G (p.L948=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15741499T>C" "" "likely benign" "" "0000292415" "0" "30" "16" "15834059" "15834059" "subst" "3.24876E-5" "01943" "MYH11_000083" "g.15834059G>C" "" "" "" "MYH11(NM_001040113.1):c.2881-14C>G, MYH11(NM_001040113.2):c.2881-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15740202G>C" "" "likely benign" "" "0000292416" "0" "30" "16" "15931819" "15931819" "subst" "0.00182332" "01943" "MYH11_000131" "g.15931819G>A" "" "" "" "MYH11(NM_001040113.1):c.291C>T (p.N97=), MYH11(NM_001040113.2):c.291C>T (p.N97=), MYH11(NM_002474.3):c.291C>T (p.N97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15837962G>A" "" "likely benign" "" "0000292417" "0" "30" "16" "15931810" "15931810" "subst" "0.0001665" "01943" "MYH11_000130" "g.15931810G>A" "" "" "" "MYH11(NM_001040113.1):c.300C>T (p.S100=), MYH11(NM_001040113.2):c.300C>T (p.S100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15837953G>A" "" "likely benign" "" "0000292418" "0" "50" "16" "15931809" "15931809" "subst" "3.65491E-5" "01943" "MYH11_000129" "g.15931809C>T" "" "" "" "MYH11(NM_001040113.1):c.301G>A (p.V101M), MYH11(NM_001040113.2):c.301G>A (p.V101M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15837952C>T" "" "VUS" "" "0000292419" "0" "50" "16" "15832476" "15832476" "subst" "0" "01943" "MYH11_000079" "g.15832476T>C" "" "" "" "MYH11(NM_001040113.1):c.3088A>G (p.K1030E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15738619T>C" "" "VUS" "" "0000292420" "0" "30" "16" "15831301" "15831301" "subst" "3.6762E-5" "01943" "MYH11_000077" "g.15831301G>A" "" "" "" "MYH11(NM_001040113.1):c.3314+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15737444G>A" "" "likely benign" "" "0000292421" "0" "30" "16" "15831300" "15831300" "subst" "0.000126644" "01943" "MYH11_000076" "g.15831300C>T" "" "" "" "MYH11(NM_001040113.1):c.3314+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15737443C>T" "" "likely benign" "" "0000292422" "0" "50" "16" "15826510" "15826510" "subst" "0.000166516" "01943" "MYH11_000073" "g.15826510G>A" "" "" "" "MYH11(NM_001040113.1):c.3583C>T (p.R1195W), MYH11(NM_001040113.2):c.3583C>T (p.R1195W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15732653G>A" "" "VUS" "" "0000292423" "0" "50" "16" "15826493" "15826493" "subst" "4.06108E-6" "01943" "MYH11_000072" "g.15826493C>G" "" "" "" "MYH11(NM_001040113.1):c.3600G>C (p.Q1200H), MYH11(NM_001040114.1):c.3600G>C (p.(Gln1200His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15732636C>G" "" "VUS" "" "0000292424" "0" "30" "16" "15820747" "15820747" "subst" "0.000367179" "01943" "MYH11_000067" "g.15820747C>T" "" "" "" "MYH11(NM_001040113.1):c.3837G>A (p.E1279=), MYH11(NM_001040113.2):c.3837G>A (p.E1279=), MYH11(NM_002474.3):c.3816G>A (p.E1272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15726890C>T" "" "likely benign" "" "0000292425" "0" "30" "16" "15818496" "15818496" "del" "0" "01943" "MYH11_000057" "g.15818496del" "" "" "" "MYH11(NM_001040113.1):c.4137+11delC, MYH11(NM_001040113.2):c.4137+11delC, MYH11(NM_002474.3):c.4116+11delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724639del" "" "likely benign" "" "0000292426" "0" "10" "16" "15818141" "15818141" "subst" "0.507757" "01943" "MYH11_000054" "g.15818141A>C" "" "" "" "MYH11(NM_001040113.1):c.4262_4263delCTinsCG (p.A1421=), MYH11(NM_001040113.2):c.4263T>G (p.A1421=), NDE1(NM_001143979.2):c.*33A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724284A>C" "" "benign" "" "0000292427" "0" "50" "16" "15818040" "15818040" "subst" "0" "01943" "MYH11_000051" "g.15818040T>C" "" "" "" "MYH11(NM_001040113.1):c.4364A>G (p.K1455R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724183T>C" "" "VUS" "" "0000292428" "0" "50" "16" "15818039" "15818041" "del" "0" "01943" "MYH11_000050" "g.15818039_15818041del" "" "" "" "MYH11(NM_001040113.1):c.4366_4368delAAG (p.K1456del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724182_15724184del" "" "VUS" "" "0000292429" "0" "30" "16" "15818008" "15818008" "subst" "3.65646E-5" "01943" "MYH11_000048" "g.15818008C>T" "" "" "" "MYH11(NM_001040113.1):c.4386+10G>A, MYH11(NM_001040113.2):c.4386+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724151C>T" "" "likely benign" "" "0000292430" "0" "30" "16" "15818009" "15818009" "subst" "3.25042E-5" "01943" "MYH11_000049" "g.15818009G>A" "" "" "" "MYH11(NM_001040113.1):c.4386+9C>T, MYH11(NM_001040113.2):c.4386+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724152G>A" "" "likely benign" "" "0000292431" "0" "30" "16" "15815351" "15815351" "subst" "0.00272876" "01943" "MYH11_000045" "g.15815351G>A" "" "" "" "MYH11(NM_001040113.1):c.4527C>T (p.L1509=), MYH11(NM_002474.3):c.4506C>T (p.(Leu1502=), p.L1502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15721494G>A" "" "likely benign" "" "0000292432" "0" "30" "16" "15917161" "15917161" "subst" "0.000897418" "01943" "MYH11_000126" "g.15917161C>T" "" "" "" "MYH11(NM_001040113.1):c.453G>A (p.P151=), MYH11(NM_001040113.2):c.453G>A (p.P151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15823304C>T" "" "likely benign" "" "0000292433" "0" "10" "16" "15815335" "15815335" "subst" "0.00133593" "01943" "MYH11_000044" "g.15815335T>C" "" "" "" "MYH11(NM_001040113.1):c.4543A>G (p.M1515V), MYH11(NM_001040113.2):c.4543A>G (p.M1515V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15721478T>C" "" "benign" "" "0000292434" "0" "30" "16" "15815276" "15815276" "subst" "0.00135633" "01943" "MYH11_000042" "g.15815276T>C" "" "" "" "MYH11(NM_001040113.1):c.4599+3A>G, MYH11(NM_001040113.2):c.4599+3A>G, MYH11(NM_002474.3):c.4578+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15721419T>C" "" "likely benign" "" "0000292435" "0" "30" "16" "15812241" "15812241" "subst" "0.000591273" "01943" "MYH11_000030" "g.15812241C>G" "" "" "" "MYH11(NM_001040113.1):c.5247G>C (p.E1749D), MYH11(NM_001040113.2):c.5247G>C (p.E1749D), MYH11(NM_002474.2):c.5226G>C (p.(Glu1742Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15718384C>G" "" "likely benign" "" "0000292436" "0" "30" "16" "15811209" "15811209" "subst" "0.00596626" "01943" "MYH11_000027" "g.15811209G>A" "" "" "" "MYH11(NM_001040113.1):c.5317-4C>T (p.?), MYH11(NM_001040113.2):c.5317-4C>T, MYH11(NM_002474.3):c.5296-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15717352G>A" "" "likely benign" "" "0000292437" "0" "10" "16" "15811062" "15811062" "subst" "0.486816" "01943" "MYH11_000023" "g.15811062C>T" "" "" "" "MYH11(NM_001040113.1):c.5460G>A (p.K1820=), MYH11(NM_001040113.2):c.5460G>A (p.K1820=), NDE1(NM_001143979.2):c.948-6986C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15717205C>T" "" "benign" "" "0000292438" "0" "50" "16" "15811060" "15811060" "subst" "8.93713E-5" "01943" "MYH11_000022" "g.15811060G>A" "" "" "" "MYH11(NM_001040113.1):c.5462C>T (p.S1821F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15717203G>A" "" "VUS" "" "0000292439" "0" "10" "16" "15811023" "15811023" "subst" "0.486324" "01943" "MYH11_000021" "g.15811023C>T" "" "" "" "MYH11(NM_001040113.1):c.5499G>A (p.L1833=), MYH11(NM_001040113.2):c.5499G>A (p.L1833=), NDE1(NM_001143979.2):c.948-7025C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15717166C>T" "" "benign" "" "0000292440" "0" "30" "16" "15811002" "15811002" "subst" "0.000345742" "01943" "MYH11_000020" "g.15811002C>G" "" "" "" "MYH11(NM_001040113.1):c.5520G>C (p.E1840D, p.(Glu1840Asp)), MYH11(NM_001040113.2):c.5520G>C (p.E1840D), MYH11(NM_002474.3):c.5499G>C (p.E1833D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15717145C>G" "" "likely benign" "" "0000292441" "0" "30" "16" "15809068" "15809068" "subst" "0.0012754" "01943" "MYH11_000017" "g.15809068G>A" "" "" "" "MYH11(NM_001040113.1):c.5587C>T (p.L1863=), MYH11(NM_001040113.2):c.5587C>T (p.L1863=), MYH11(NM_002474.3):c.5566C>T (p.L1856=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15715211G>A" "" "likely benign" "" "0000292442" "0" "30" "16" "15808945" "15808945" "subst" "0.000220576" "01943" "MYH11_000015" "g.15808945C>T" "" "" "" "MYH11(NM_001040113.1):c.5635-7G>A, MYH11(NM_001040113.2):c.5635-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15715088C>T" "" "likely benign" "" "0000292443" "0" "30" "16" "15808946" "15808946" "subst" "3.67752E-5" "01943" "MYH11_000016" "g.15808946G>A" "" "" "" "MYH11(NM_001040113.1):c.5635-8C>T, MYH11(NM_001040113.2):c.5635-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15715089G>A" "" "likely benign" "" "0000292444" "0" "30" "16" "15808876" "15808876" "subst" "0.00502288" "01943" "MYH11_000014" "g.15808876C>G" "" "" "" "MYH11(NM_001040113.1):c.5697G>C (p.E1899D), MYH11(NM_001040113.2):c.5697G>C (p.E1899D), MYH11(NM_002474.3):c.5676G>C (p.E1892D), NDE1(NM_001143979...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15715019C>G" "" "likely benign" "" "0000292445" "0" "30" "16" "15802711" "15802714" "del" "0" "01943" "MYH11_000011" "g.15802711_15802714del" "" "" "" "MYH11(NM_001040113.1):c.5808-11_5808-8delCTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15708854_15708857del" "" "likely benign" "" "0000292446" "0" "30" "16" "15802695" "15802695" "subst" "0" "01943" "MYH11_000010" "g.15802695C>G" "" "" "" "MYH11(NM_001040113.1):c.5811G>C (p.G1937=), MYH11(NM_001040113.2):c.5811G>C (p.G1937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15708838C>G" "" "likely benign" "" "0000292447" "0" "30" "16" "15802687" "15802687" "subst" "0.000393264" "01943" "MYH11_000008" "g.15802687G>C" "" "" "" "MYH11(NM_001040113.1):c.5819C>G (p.P1940R), MYH11(NM_001040113.2):c.5819C>G (p.P1940R), MYH11(NM_002474.3):c.5787-4707C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15708830G>C" "" "likely benign" "" "0000292448" "0" "30" "16" "15802687" "15802687" "subst" "3.93264E-5" "01943" "MYH11_000009" "g.15802687G>A" "" "" "" "MYH11(NM_001040113.1):c.5819C>T (p.P1940L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15708830G>A" "" "likely benign" "" "0000292449" "0" "30" "16" "15797967" "15797967" "subst" "0.00136856" "01943" "MYH11_000006" "g.15797967T>A" "" "" "" "MYH11(NM_001040113.1):c.*22A>T (p.(=)), MYH11(NM_001040114.1):c.5821A>T (p.T1941S), MYH11(NM_002474.3):c.5800A>T (p.T1934S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15704110T>A" "" "likely benign" "" "0000292450" "0" "50" "16" "15880531" "15880531" "subst" "0" "01943" "MYH11_000119" "g.15880531C>T" "" "" "" "MYH11(NM_001040113.1):c.589G>A (p.V197M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15786674C>T" "" "VUS" "" "0000292451" "0" "50" "16" "15797883" "15797883" "subst" "0" "01943" "MYH11_000005" "g.15797883C>A" "" "" "" "MYH11(NM_001040114.1):c.5905G>T (p.D1969Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15704026C>A" "" "VUS" "" "0000292452" "0" "50" "16" "15932045" "15932045" "subst" "0" "01943" "MYH11_000135" "g.15932045T>C" "" "" "" "MYH11(NM_001040113.1):c.65A>G (p.N22S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15838188T>C" "" "VUS" "" "0000292453" "0" "30" "16" "15865545" "15865545" "subst" "0.000645801" "01943" "MYH11_000114" "g.15865545T>C" "" "" "" "MYH11(NM_001040113.1):c.935A>G (p.N312S), MYH11(NM_001040113.2):c.935A>G (p.N312S), MYH11(NM_002474.3):c.914A>G (p.N305S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15771688T>C" "" "likely benign" "" "0000292454" "0" "30" "16" "15865499" "15865499" "subst" "1.21836E-5" "01943" "MYH11_000113" "g.15865499G>A" "" "" "" "MYH11(NM_001040113.1):c.981C>T (p.A327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15771642G>A" "" "likely benign" "" "0000296341" "0" "10" "16" "15811062" "15811062" "subst" "0.486816" "02325" "MYH11_000023" "g.15811062C>T" "" "" "" "MYH11(NM_001040113.1):c.5460G>A (p.K1820=), MYH11(NM_001040113.2):c.5460G>A (p.K1820=), NDE1(NM_001143979.2):c.948-6986C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15717205C>T" "" "benign" "" "0000296342" "0" "10" "16" "15811023" "15811023" "subst" "0.486324" "02325" "MYH11_000021" "g.15811023C>T" "" "" "" "MYH11(NM_001040113.1):c.5499G>A (p.L1833=), MYH11(NM_001040113.2):c.5499G>A (p.L1833=), NDE1(NM_001143979.2):c.948-7025C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15717166C>T" "" "benign" "" "0000302942" "0" "30" "16" "15761257" "15761257" "subst" "2.43782E-5" "01943" "NDE1_000005" "g.15761257C>T" "" "" "" "NDE1(NM_001143979.1):c.198C>T (p.S66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15667400C>T" "" "likely benign" "" "0000302943" "0" "30" "16" "15771729" "15771729" "subst" "0.000373807" "01943" "NDE1_000006" "g.15771729C>G" "" "" "" "NDE1(NM_001143979.1):c.309C>G (p.T103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15677872C>G" "" "likely benign" "" "0000302944" "0" "30" "16" "15781331" "15781331" "subst" "0.00327553" "01943" "NDE1_000007" "g.15781331C>T" "" "" "" "NDE1(NM_001143979.1):c.486C>T (p.L162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15687474C>T" "" "likely benign" "" "0000302945" "0" "30" "16" "15758701" "15758701" "subst" "0.000121961" "01943" "NDE1_000003" "g.15758701G>A" "" "" "" "NDE1(NM_001143979.1):c.66G>A (p.A22=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15664844G>A" "" "likely benign" "" "0000302946" "0" "30" "16" "15788039" "15788039" "subst" "1.63094E-5" "01943" "NDE1_000011" "g.15788039G>A" "" "" "" "NDE1(NM_001143979.1):c.721G>A (p.G241R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15694182G>A" "" "likely benign" "" "0000302947" "0" "50" "16" "15788041" "15788041" "subst" "0.00134421" "01943" "NDE1_000012" "g.15788041G>T" "" "" "" "NDE1(NM_001143979.1):c.723G>T (p.G241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15694184G>T" "" "VUS" "" "0000302948" "0" "10" "16" "15790607" "15790607" "subst" "0.0287056" "01943" "NDE1_000014" "g.15790607C>T" "" "" "" "NDE1(NM_001143979.1):c.837C>T (p.Y279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15696750C>T" "" "benign" "" "0000302949" "0" "30" "16" "15818090" "15818090" "subst" "7.71517E-5" "01943" "MYH11_000053" "g.15818090G>A" "" "" "" "MYH11(NM_001040113.1):c.4314C>T (p.D1438=), MYH11(NM_001040113.2):c.4314C>T (p.D1438=), NDE1(NM_001143979.1):c.990G>A (p.R330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724233G>A" "" "likely benign" "" "0000324610" "0" "30" "16" "15785049" "15785049" "subst" "0.00847299" "01804" "NDE1_000008" "g.15785049C>T" "" "" "" "NDE1(NM_001143979.1):c.572C>T (p.T191I, p.(Thr191Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15691192C>T" "" "likely benign" "" "0000324611" "0" "50" "16" "15785084" "15785084" "subst" "0" "01804" "NDE1_000009" "g.15785084G>T" "" "" "" "NDE1(NM_001143979.1):c.607G>T (p.(Asp203Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15691227G>T" "" "VUS" "" "0000324612" "0" "50" "16" "15785124" "15785124" "subst" "0" "01804" "NDE1_000010" "g.15785124C>G" "" "" "" "NDE1(NM_001143979.1):c.647C>G (p.(Pro216Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15691267C>G" "" "VUS" "" "0000324615" "0" "50" "16" "15811102" "15811102" "subst" "0" "01804" "MYH11_000024" "g.15811102T>G" "" "" "" "MYH11(NM_001040114.1):c.5420A>C (p.(Lys1807Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15717245T>G" "" "VUS" "" "0000324617" "0" "30" "16" "15814814" "15814814" "subst" "0.000698443" "01804" "MYH11_000038" "g.15814814G>A" "" "" "" "MYH11(NM_001040113.1):c.4694C>T (p.T1565M, p.(Thr1565Met)), MYH11(NM_001040113.2):c.4694C>T (p.T1565M), MYH11(NM_002474.3):c.4673C>T (p.T1558M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15720957G>A" "" "likely benign" "" "0000324618" "0" "30" "16" "15815276" "15815276" "subst" "0.00135633" "01804" "MYH11_000042" "g.15815276T>C" "" "" "" "MYH11(NM_001040113.1):c.4599+3A>G, MYH11(NM_001040113.2):c.4599+3A>G, MYH11(NM_002474.3):c.4578+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15721419T>C" "" "likely benign" "" "0000324620" "0" "50" "16" "15818073" "15818073" "subst" "0" "01804" "MYH11_000052" "g.15818073T>C" "" "" "" "MYH11(NM_001040113.1):c.4331A>G (p.(Asp1444Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724216T>C" "" "VUS" "" "0000324622" "0" "30" "16" "15818780" "15818780" "subst" "0.000796392" "01804" "MYH11_000062" "g.15818780C>T" "" "" "" "MYH11(NM_001040113.1):c.3949G>A (p.V1317M, p.(Val1317Met)), MYH11(NM_001040113.2):c.3949G>A (p.V1317M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724923C>T" "" "likely benign" "" "0000324623" "0" "50" "16" "15818798" "15818798" "subst" "0.000300593" "01804" "MYH11_000063" "g.15818798T>G" "" "" "" "MYH11(NM_001040113.1):c.3931A>C (p.I1311L, p.(Ile1311Leu)), MYH11(NM_001040113.2):c.3931A>C (p.I1311L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15724941T>G" "" "VUS" "" "0000324624" "0" "50" "16" "15820804" "15820806" "del" "0" "01804" "MYH11_000068" "g.15820804_15820806del" "" "" "" "MYH11(NM_001040113.1):c.3787_3789del (p.(Lys1263del)), MYH11(NM_001040113.1):c.3787_3789delAAG (p.K1263del), MYH11(NM_001040113.2):c.3787_3789delAA..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15726947_15726949del" "" "VUS" "" "0000324626" "0" "50" "16" "15829419" "15829419" "subst" "0.00281421" "01804" "MYH11_000075" "g.15829419C>T" "" "" "" "MYH11(NM_001040113.1):c.3331G>A (p.(Ala1111Thr)), MYH11(NM_001040113.2):c.3331G>A (p.A1111T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15735562C>T" "" "VUS" "" "0000324627" "0" "50" "16" "15839080" "15839080" "subst" "4.06379E-6" "01804" "MYH11_000088" "g.15839080C>T" "" "" "" "MYH11(NM_001040113.1):c.2447G>A (p.(Arg816Lys)), MYH11(NM_002474.3):c.2426G>A (p.R809K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15745223C>T" "" "VUS" "" "0000324628" "0" "50" "16" "15844174" "15844174" "subst" "0.000184677" "01804" "MYH11_000098" "g.15844174C>T" "" "" "" "MYH11(NM_001040113.1):c.1900G>A (p.G634S, p.(Gly634Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15750317C>T" "" "VUS" "" "0000324630" "0" "30" "16" "15872688" "15872688" "subst" "0.00177471" "01804" "MYH11_000116" "g.15872688G>A" "" "" "" "MYH11(NM_001040113.1):c.760C>T (p.R254C, p.(Arg254Cys)), MYH11(NM_001040113.2):c.760C>T (p.R254C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15778831G>A" "" "likely benign" "" "0000324631" "0" "50" "16" "15931893" "15931893" "subst" "0.000312668" "01804" "MYH11_000132" "g.15931893T>G" "" "" "" "MYH11(NM_001040113.1):c.217A>C (p.(Lys73Gln)), MYH11(NM_001040113.2):c.217A>C (p.K73Q), MYH11(NM_002474.3):c.217A>C (p.K73Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15838036T>G" "" "VUS" "" "0000556705" "0" "30" "16" "15733076" "15733076" "subst" "4.07534E-5" "01804" "MYH11_000137" "g.15733076G>C" "" "" "" "KIAA0430(NM_001184998.1):c.15C>G (p.(Asn5Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15639219G>C" "" "likely benign" "" "0000556720" "0" "30" "16" "15781283" "15781283" "subst" "8.12552E-6" "01943" "MYH11_000138" "g.15781283C>T" "" "" "" "NDE1(NM_001143979.1):c.438C>T (p.I146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15687426C>T" "" "likely benign" "" "0000556721" "0" "10" "16" "15785049" "15785049" "subst" "0.00847299" "01943" "NDE1_000008" "g.15785049C>T" "" "" "" "NDE1(NM_001143979.1):c.572C>T (p.T191I, p.(Thr191Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15691192C>T" "" "benign" "" "0000556722" "0" "50" "16" "15797967" "15797967" "subst" "0.00136856" "01804" "MYH11_000006" "g.15797967T>A" "" "" "" "MYH11(NM_001040113.1):c.*22A>T (p.(=)), MYH11(NM_001040114.1):c.5821A>T (p.T1941S), MYH11(NM_002474.3):c.5800A>T (p.T1934S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15704110T>A" "" "VUS" "" "0000556723" "0" "10" "16" "15797971" "15797971" "subst" "0.00062133" "02327" "MYH11_000139" "g.15797971G>A" "" "" "" "MYH11(NM_001040114.1):c.5817C>T (p.N1939=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15704114G>A" "" "benign" "" "0000556724" "0" "10" "16" "15797971" "15797971" "subst" "0.00062133" "02326" "MYH11_000139" "g.15797971G>A" "" "" "" "MYH11(NM_001040114.1):c.5817C>T (p.N1939=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15704114G>A" "" "benign" "" "0000556725" "0" "50" "16" "15802652" "15802652" "subst" "0.000107412" "01943" "MYH11_000140" "g.15802652C>T" "" "" "" "MYH11(NM_001040113.1):c.*8+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15708795C>T" "" "VUS" "" "0000556726" "0" "30" "16" "15802687" "15802687" "subst" "0.00126718" "01943" "MYH11_000007" "g.15802687G>T" "" "" "" "MYH11(NM_001040113.1):c.5819C>A (p.P1940Q, p.(Pro1940Gln)), MYH11(NM_001040113.2):c.5819C>A (p.P1940Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15708830G>T" "" "likely benign" "" "0000556727" "0" "10" "16" "15802687" "15802687" "subst" "0.00126718" "02326" "MYH11_000007" "g.15802687G>T" "" "" "" "MYH11(NM_001040113.1):c.5819C>A (p.P1940Q, p.(Pro1940Gln)), MYH11(NM_001040113.2):c.5819C>A (p.P1940Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15708830G>T" "" "benign" "" "0000556728" "0" "50" "16" "15802693" "15802693" "subst" "4.19231E-6" "02326" "MYH11_000141" "g.15802693G>C" "" "" "" "MYH11(NM_001040113.2):c.5813C>G (p.P1938R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15708836G>C" "" "VUS" "" "0000556729" "0" "50" "16" "15802694" "15802694" "del" "0" "01943" "MYH11_000142" "g.15802694del" "" "" "" "MYH11(NM_001040113.1):c.5819delC (p.P1940Hfs*91)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15708837del" "" "VUS" "" "0000556730" "0" "30" "16" "15802695" "15802695" "subst" "0" "02329" "MYH11_000010" "g.15802695C>G" "" "" "" "MYH11(NM_001040113.1):c.5811G>C (p.G1937=), MYH11(NM_001040113.2):c.5811G>C (p.G1937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15708838C>G" "" "likely benign" "" "0000556731" "0" "50" "16" "15808776" "15808776" "subst" "4.08173E-6" "02329" "MYH11_000143" "g.15808776T>C" "" "" "" "MYH11(NM_001040113.2):c.5797A>G (p.S1933G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15714919T>C" "" "VUS" "" "0000556732" "0" "30" "16" "15808785" "15808785" "subst" "6.93362E-5" "02327" "MYH11_000144" "g.15808785C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15714928C>T" "" "likely benign" "" "0000556733" "0" "50" "16" "15808786" "15808786" "subst" "1.63076E-5" "01943" "MYH11_000145" "g.15808786G>A" "" "" "" "MYH11(NM_001040113.1):c.5787C>T (p.N1929=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15714929G>A" "" "VUS" "" "0000556734" "0" "50" "16" "15808809" "15808809" "subst" "0" "02326" "MYH11_000146" "g.15808809C>T" "" "" "" "MYH11(NM_001040113.2):c.5764G>A (p.E1922K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15714952C>T" "" "VUS" "" "0000556735" "0" "30" "16" "15808861" "15808861" "subst" "0.00078031" "02329" "MYH11_000147" "g.15808861G>A" "" "" "" "MYH11(NM_001040113.1):c.5712C>T (p.N1904=), MYH11(NM_001040113.2):c.5712C>T (p.N1904=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15715004G>A" "" "likely benign" "" "0000556736" "0" "30" "16" "15808876" "15808876" "subst" "0.00502288" "02325" "MYH11_000014" "g.15808876C>G" "" "" "" "MYH11(NM_001040113.1):c.5697G>C (p.E1899D), MYH11(NM_001040113.2):c.5697G>C (p.E1899D), MYH11(NM_002474.3):c.5676G>C (p.E1892D), NDE1(NM_001143979...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15715019C>G" "" "likely benign" "" "0000556738" "0" "30" "16" "15808945" "15808945" "subst" "0.000220576" "02327" "MYH11_000015" "g.15808945C>T" "" "" "" "MYH11(NM_001040113.1):c.5635-7G>A, MYH11(NM_001040113.2):c.5635-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15715088C>T" "" "likely benign" "" "0000556739" "0" "30" "16" "15808945" "15808945" "subst" "0.000220576" "02326" "MYH11_000015" "g.15808945C>T" "" "" "" "MYH11(NM_001040113.1):c.5635-7G>A, MYH11(NM_001040113.2):c.5635-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15715088C>T" "" "likely benign" "" "0000556740" "0" "50" "16" "15809038" "15809038" "subst" "3.658E-5" "01943" "MYH11_000148" "g.15809038C>T" "" "" "" "MYH11(NM_001040113.1):c.5617G>A (p.E1873K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15715181C>T" "" "VUS" "" "0000556743" "0" "30" "16" "15809068" "15809068" "subst" "0.0012754" "02326" "MYH11_000017" "g.15809068G>A" "" "" "" "MYH11(NM_001040113.1):c.5587C>T (p.L1863=), MYH11(NM_001040113.2):c.5587C>T (p.L1863=), MYH11(NM_002474.3):c.5566C>T (p.L1856=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15715211G>A" "" "likely benign" "" "0000556745" "0" "30" "16" "15810990" "15810990" "subst" "8.14425E-6" "01943" "MYH11_000019" "g.15810990C>A" "" "" "" "MYH11(NM_001040113.1):c.5525+7G>T, MYH11(NM_001040113.2):c.5525+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15717133C>A" "" "likely benign" "" "0000556746" "0" "30" "16" "15811002" "15811002" "subst" "0.000345742" "01804" "MYH11_000020" "g.15811002C>G" "" "" "" "MYH11(NM_001040113.1):c.5520G>C (p.E1840D, p.(Glu1840Asp)), MYH11(NM_001040113.2):c.5520G>C (p.E1840D), MYH11(NM_002474.3):c.5499G>C (p.E1833D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15717145C>G" "" "likely benign" "" "0000556747" "0" "30" "16" "15811002" "15811002" "subst" "0.000345742" "02327" "MYH11_000020" "g.15811002C>G" "" "" "" "MYH11(NM_001040113.1):c.5520G>C (p.E1840D, p.(Glu1840Asp)), MYH11(NM_001040113.2):c.5520G>C (p.E1840D), MYH11(NM_002474.3):c.5499G>C (p.E1833D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15717145C>G" "" "likely benign" "" "0000556748" "0" "30" "16" "15811002" "15811002" "subst" "0.000345742" "02326" "MYH11_000020" "g.15811002C>G" "" "" "" "MYH11(NM_001040113.1):c.5520G>C (p.E1840D, p.(Glu1840Asp)), MYH11(NM_001040113.2):c.5520G>C (p.E1840D), MYH11(NM_002474.3):c.5499G>C (p.E1833D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15717145C>G" "" "likely benign" "" "0000556749" "0" "30" "16" "15811002" "15811002" "subst" "0.000345742" "02329" "MYH11_000020" "g.15811002C>G" "" "" "" "MYH11(NM_001040113.1):c.5520G>C (p.E1840D, p.(Glu1840Asp)), MYH11(NM_001040113.2):c.5520G>C (p.E1840D), MYH11(NM_002474.3):c.5499G>C (p.E1833D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15717145C>G" "" "likely benign" "" "0000556750" "0" "10" "16" "15811023" "15811023" "subst" "0.486324" "02327" "MYH11_000021" "g.15811023C>T" "" "" "" "MYH11(NM_001040113.1):c.5499G>A (p.L1833=), MYH11(NM_001040113.2):c.5499G>A (p.L1833=), NDE1(NM_001143979.2):c.948-7025C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15717166C>T" "" "benign" "" "0000556751" "0" "30" "16" "15811060" "15811060" "subst" "8.93713E-5" "02327" "MYH11_000022" "g.15811060G>A" "" "" "" "MYH11(NM_001040113.1):c.5462C>T (p.S1821F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15717203G>A" "" "likely benign" "" "0000556752" "0" "10" "16" "15811062" "15811062" "subst" "0.486816" "02327" "MYH11_000023" "g.15811062C>T" "" "" "" "MYH11(NM_001040113.1):c.5460G>A (p.K1820=), MYH11(NM_001040113.2):c.5460G>A (p.K1820=), NDE1(NM_001143979.2):c.948-6986C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15717205C>T" "" "benign" "" "0000556753" "0" "30" "16" "15811097" "15811097" "subst" "8.12625E-6" "01804" "MYH11_000151" "g.15811097G>A" "" "" "" "MYH11(NM_001040113.1):c.5425C>T (p.(His1809Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15717240G>A" "" "likely benign" "" "0000556756" "0" "30" "16" "15811131" "15811131" "subst" "0.0141192" "02327" "MYH11_000025" "g.15811131G>A" "" "" "" "MYH11(NM_001040113.2):c.5391C>T (p.L1797=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15717274G>A" "" "likely benign" "" "0000556757" "0" "30" "16" "15811173" "15811173" "subst" "1.2319E-5" "02327" "MYH11_000153" "g.15811173C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15717316C>T" "" "likely benign" "" "0000556758" "0" "30" "16" "15811215" "15811215" "subst" "7.15145E-5" "01943" "MYH11_000154" "g.15811215A>G" "" "" "" "MYH11(NM_001040113.1):c.5317-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15717358A>G" "" "likely benign" "" "0000556759" "0" "50" "16" "15812194" "15812194" "subst" "0.000156647" "01943" "MYH11_000155" "g.15812194C>T" "" "" "" "MYH11(NM_001040113.1):c.5294G>A (p.R1765Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15718337C>T" "" "VUS" "" "0000556760" "0" "50" "16" "15812221" "15812221" "subst" "0" "02329" "MYH11_000156" "g.15812221T>G" "" "" "" "MYH11(NM_001040113.2):c.5267A>C (p.Q1756P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15718364T>G" "" "VUS" "" "0000556761" "0" "30" "16" "15812291" "15812291" "subst" "0" "01804" "MYH11_000031" "g.15812291C>T" "" "" "" "MYH11(NM_001040113.1):c.5197G>A (p.(Ala1733Thr)), MYH11(NM_001040113.2):c.5197G>A (p.A1733T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15718434C>T" "" "likely benign" "" "0000556764" "0" "30" "16" "15814041" "15814041" "subst" "4.8742E-5" "01943" "MYH11_000159" "g.15814041C>T" "" "" "" "MYH11(NM_001040113.1):c.4941G>A (p.R1647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720184C>T" "" "likely benign" "" "0000556765" "0" "50" "16" "15814100" "15814100" "subst" "8.93466E-5" "01943" "MYH11_000160" "g.15814100T>G" "" "" "" "MYH11(NM_001040113.1):c.4882A>C (p.K1628Q), MYH11(NM_001040113.2):c.4882A>C (p.K1628Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720243T>G" "" "VUS" "" "0000556766" "0" "50" "16" "15814100" "15814100" "subst" "8.93466E-5" "02326" "MYH11_000160" "g.15814100T>G" "" "" "" "MYH11(NM_001040113.1):c.4882A>C (p.K1628Q), MYH11(NM_001040113.2):c.4882A>C (p.K1628Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720243T>G" "" "VUS" "" "0000556767" "0" "50" "16" "15814100" "15814100" "subst" "8.93466E-5" "02329" "MYH11_000160" "g.15814100T>G" "" "" "" "MYH11(NM_001040113.1):c.4882A>C (p.K1628Q), MYH11(NM_001040113.2):c.4882A>C (p.K1628Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720243T>G" "" "VUS" "" "0000556768" "0" "50" "16" "15814112" "15814112" "subst" "0" "02329" "MYH11_000161" "g.15814112C>A" "" "" "" "MYH11(NM_001040113.2):c.4870G>T (p.A1624S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720255C>A" "" "VUS" "" "0000556769" "0" "50" "16" "15814126" "15814126" "subst" "3.24973E-5" "01943" "MYH11_000162" "g.15814126C>T" "" "" "" "MYH11(NM_001040113.1):c.4856G>A (p.R1619H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720269C>T" "" "VUS" "" "0000556770" "0" "30" "16" "15814152" "15814152" "subst" "0.000105703" "02327" "MYH11_000163" "g.15814152C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720295C>T" "" "likely benign" "" "0000556771" "0" "10" "16" "15814717" "15814717" "subst" "0.0138879" "02327" "MYH11_000036" "g.15814717C>T" "" "" "" "MYH11(NM_001040113.1):c.4791G>A (p.K1597=), MYH11(NM_001040113.2):c.4791G>A (p.K1597=), MYH11(NM_002474.3):c.4770G>A (p.(Lys1590=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720860C>T" "" "benign" "" "0000556772" "0" "50" "16" "15814752" "15814752" "subst" "7.30994E-5" "02329" "MYH11_000164" "g.15814752C>T" "" "" "" "MYH11(NM_001040113.2):c.4756G>A (p.D1586N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720895C>T" "" "VUS" "" "0000556773" "0" "50" "16" "15814752" "15814752" "subst" "7.30994E-5" "02327" "MYH11_000164" "g.15814752C>T" "" "" "" "MYH11(NM_001040113.2):c.4756G>A (p.D1586N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720895C>T" "" "VUS" "" "0000556774" "0" "50" "16" "15814814" "15814814" "subst" "0.000698443" "01943" "MYH11_000038" "g.15814814G>A" "" "" "" "MYH11(NM_001040113.1):c.4694C>T (p.T1565M, p.(Thr1565Met)), MYH11(NM_001040113.2):c.4694C>T (p.T1565M), MYH11(NM_002474.3):c.4673C>T (p.T1558M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720957G>A" "" "VUS" "" "0000556775" "0" "30" "16" "15814814" "15814814" "subst" "0.000698443" "02326" "MYH11_000038" "g.15814814G>A" "" "" "" "MYH11(NM_001040113.1):c.4694C>T (p.T1565M, p.(Thr1565Met)), MYH11(NM_001040113.2):c.4694C>T (p.T1565M), MYH11(NM_002474.3):c.4673C>T (p.T1558M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720957G>A" "" "likely benign" "" "0000556776" "0" "30" "16" "15814814" "15814814" "subst" "0.000698443" "02329" "MYH11_000038" "g.15814814G>A" "" "" "" "MYH11(NM_001040113.1):c.4694C>T (p.T1565M, p.(Thr1565Met)), MYH11(NM_001040113.2):c.4694C>T (p.T1565M), MYH11(NM_002474.3):c.4673C>T (p.T1558M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720957G>A" "" "likely benign" "" "0000556777" "0" "50" "16" "15814883" "15814883" "subst" "0.00221767" "01943" "MYH11_000165" "g.15814883C>T" "" "" "" "MYH11(NM_001040113.1):c.4625G>A (p.R1542Q), MYH11(NM_001040113.2):c.4625G>A (p.R1542Q), MYH11(NM_002474.2):c.4604G>A (p.(Arg1535Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15721026C>T" "" "VUS" "" "0000556778" "0" "50" "16" "15814883" "15814883" "subst" "0.00221767" "01804" "MYH11_000165" "g.15814883C>T" "" "" "" "MYH11(NM_001040113.1):c.4625G>A (p.R1542Q), MYH11(NM_001040113.2):c.4625G>A (p.R1542Q), MYH11(NM_002474.2):c.4604G>A (p.(Arg1535Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15721026C>T" "" "VUS" "" "0000556779" "0" "30" "16" "15814883" "15814883" "subst" "0.00221767" "02326" "MYH11_000165" "g.15814883C>T" "" "" "" "MYH11(NM_001040113.1):c.4625G>A (p.R1542Q), MYH11(NM_001040113.2):c.4625G>A (p.R1542Q), MYH11(NM_002474.2):c.4604G>A (p.(Arg1535Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15721026C>T" "" "likely benign" "" "0000556780" "0" "30" "16" "15814883" "15814883" "subst" "0.00221767" "02329" "MYH11_000165" "g.15814883C>T" "" "" "" "MYH11(NM_001040113.1):c.4625G>A (p.R1542Q), MYH11(NM_001040113.2):c.4625G>A (p.R1542Q), MYH11(NM_002474.2):c.4604G>A (p.(Arg1535Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15721026C>T" "" "likely benign" "" "0000556781" "0" "10" "16" "15815260" "15815260" "subst" "0.00104808" "02329" "MYH11_000166" "g.15815260A>G" "" "" "" "MYH11(NM_001040113.2):c.4599+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15721403A>G" "" "benign" "" "0000556782" "0" "50" "16" "15815314" "15815314" "subst" "1.21819E-5" "01943" "MYH11_000167" "g.15815314C>T" "" "" "" "MYH11(NM_001040113.1):c.4564G>A (p.D1522N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15721457C>T" "" "VUS" "" "0000556783" "0" "50" "16" "15815454" "15815454" "subst" "4.87314E-5" "01943" "MYH11_000046" "g.15815454G>A" "" "" "" "MYH11(NM_001040113.1):c.4424C>T (p.A1475V), MYH11(NM_001040113.2):c.4424C>T (p.A1475V), MYH11(NM_002474.3):c.4403C>T (p.(Ala1468Val), p.A1468V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15721597G>A" "" "VUS" "" "0000556784" "0" "30" "16" "15815495" "15815495" "subst" "2.43756E-5" "01943" "MYH11_000168" "g.15815495C>T" "" "" "" "MYH11(NM_001040113.1):c.4387-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15721638C>T" "" "likely benign" "" "0000556785" "0" "50" "16" "15818068" "15818068" "subst" "8.1213E-6" "02325" "MYH11_000169" "g.15818068G>C" "" "" "" "MYH11(NM_001040113.2):c.4336C>G (p.Q1446E), MYH11(NM_002474.2):c.4315C>G (p.(Gln1439Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724211G>C" "" "VUS" "" "0000556786" "0" "10" "16" "15818144" "15818144" "subst" "0.00057257" "02327" "MYH11_000170" "g.15818144G>A" "" "" "" "MYH11(NM_001040113.2):c.4260C>T (p.A1420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724287G>A" "" "benign" "" "0000556787" "0" "10" "16" "15818144" "15818144" "subst" "0.00057257" "02326" "MYH11_000170" "g.15818144G>A" "" "" "" "MYH11(NM_001040113.2):c.4260C>T (p.A1420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724287G>A" "" "benign" "" "0000556788" "0" "10" "16" "15818144" "15818144" "subst" "0.00057257" "02329" "MYH11_000170" "g.15818144G>A" "" "" "" "MYH11(NM_001040113.2):c.4260C>T (p.A1420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724287G>A" "" "benign" "" "0000556789" "0" "30" "16" "15818186" "15818186" "subst" "0.00030462" "02327" "MYH11_000055" "g.15818186C>T" "" "" "" "MYH11(NM_001040113.2):c.4218G>A (p.K1406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724329C>T" "" "likely benign" "" "0000556790" "0" "10" "16" "15818225" "15818225" "subst" "0.00886554" "01943" "MYH11_000056" "g.15818225G>A" "" "" "" "MYH11(NM_001040113.1):c.4179C>T (p.T1393=), MYH11(NM_001040113.2):c.4179C>T (p.T1393=), MYH11(NM_002474.3):c.4158C>T (p.(Thr1386=), p.T1386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724368G>A" "" "benign" "" "0000556791" "0" "50" "16" "15818260" "15818260" "subst" "1.63713E-5" "01943" "MYH11_000171" "g.15818260C>T" "" "" "" "MYH11(NM_001040113.1):c.4144G>A (p.D1382N), MYH11(NM_002474.3):c.4123G>A (p.D1375N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724403C>T" "" "VUS" "" "0000556792" "0" "30" "16" "15818261" "15818261" "subst" "8.18572E-5" "01943" "MYH11_000172" "g.15818261G>A" "" "" "" "MYH11(NM_001040113.1):c.4143C>T (p.S1381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724404G>A" "" "likely benign" "" "0000556793" "0" "30" "16" "15818494" "15818494" "subst" "0" "02326" "MYH11_000173" "g.15818494G>C" "" "" "" "MYH11(NM_001040113.2):c.4137+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724637G>C" "" "likely benign" "" "0000556794" "0" "30" "16" "15818496" "15818496" "del" "0" "02326" "MYH11_000057" "g.15818496del" "" "" "" "MYH11(NM_001040113.1):c.4137+11delC, MYH11(NM_001040113.2):c.4137+11delC, MYH11(NM_002474.3):c.4116+11delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724639del" "" "likely benign" "" "0000556795" "0" "30" "16" "15818551" "15818551" "subst" "5.29191E-5" "02327" "MYH11_000174" "g.15818551C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724694C>T" "" "likely benign" "" "0000556796" "0" "30" "16" "15818647" "15818647" "subst" "0.000646594" "01943" "MYH11_000060" "g.15818647G>C" "" "" "" "MYH11(NM_001040113.1):c.3994C>G (p.Q1332E), MYH11(NM_001040113.2):c.3994C>G (p.Q1332E), MYH11(NM_002474.3):c.3973C>G (p.Q1325E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724790G>C" "" "likely benign" "" "0000556797" "0" "30" "16" "15818780" "15818780" "subst" "0.000796392" "01943" "MYH11_000062" "g.15818780C>T" "" "" "" "MYH11(NM_001040113.1):c.3949G>A (p.V1317M, p.(Val1317Met)), MYH11(NM_001040113.2):c.3949G>A (p.V1317M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724923C>T" "" "likely benign" "" "0000556798" "0" "50" "16" "15818798" "15818798" "subst" "0.000300593" "01943" "MYH11_000063" "g.15818798T>G" "" "" "" "MYH11(NM_001040113.1):c.3931A>C (p.I1311L, p.(Ile1311Leu)), MYH11(NM_001040113.2):c.3931A>C (p.I1311L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724941T>G" "" "VUS" "" "0000556799" "0" "10" "16" "15818842" "15818842" "subst" "0.0395436" "01943" "MYH11_000064" "g.15818842A>G" "" "" "" "MYH11(NM_001040113.1):c.3887T>C (p.V1296A), MYH11(NM_001040113.2):c.3887T>C (p.V1296A), MYH11(NM_002474.3):c.3866T>C (p.(Val1289Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724985A>G" "" "benign" "" "0000556800" "0" "30" "16" "15818842" "15818842" "subst" "0.0395436" "01804" "MYH11_000064" "g.15818842A>G" "" "" "" "MYH11(NM_001040113.1):c.3887T>C (p.V1296A), MYH11(NM_001040113.2):c.3887T>C (p.V1296A), MYH11(NM_002474.3):c.3866T>C (p.(Val1289Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724985A>G" "" "likely benign" "" "0000556801" "0" "30" "16" "15820735" "15820735" "subst" "0.00283239" "01943" "MYH11_000175" "g.15820735C>T" "" "" "" "MYH11(NM_001040113.1):c.3849G>A (p.A1283=), MYH11(NM_001040113.2):c.3849G>A (p.A1283=), MYH11(NM_002474.3):c.3828G>A (p.A1276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15726878C>T" "" "likely benign" "" "0000556802" "0" "30" "16" "15820735" "15820735" "subst" "0.00283239" "02326" "MYH11_000175" "g.15820735C>T" "" "" "" "MYH11(NM_001040113.1):c.3849G>A (p.A1283=), MYH11(NM_001040113.2):c.3849G>A (p.A1283=), MYH11(NM_002474.3):c.3828G>A (p.A1276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15726878C>T" "" "likely benign" "" "0000556803" "0" "30" "16" "15820735" "15820735" "subst" "0.00283239" "02329" "MYH11_000175" "g.15820735C>T" "" "" "" "MYH11(NM_001040113.1):c.3849G>A (p.A1283=), MYH11(NM_001040113.2):c.3849G>A (p.A1283=), MYH11(NM_002474.3):c.3828G>A (p.A1276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15726878C>T" "" "likely benign" "" "0000556804" "0" "30" "16" "15820753" "15820753" "subst" "0" "01943" "MYH11_000176" "g.15820753A>G" "" "" "" "MYH11(NM_001040113.1):c.3831T>C (p.D1277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15726896A>G" "" "likely benign" "" "0000556805" "0" "50" "16" "15820804" "15820806" "del" "0" "01943" "MYH11_000068" "g.15820804_15820806del" "" "" "" "MYH11(NM_001040113.1):c.3787_3789del (p.(Lys1263del)), MYH11(NM_001040113.1):c.3787_3789delAAG (p.K1263del), MYH11(NM_001040113.2):c.3787_3789delAA..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15726947_15726949del" "" "VUS" "" "0000556806" "0" "70" "16" "15820804" "15820806" "del" "0" "02326" "MYH11_000068" "g.15820804_15820806del" "" "" "" "MYH11(NM_001040113.1):c.3787_3789del (p.(Lys1263del)), MYH11(NM_001040113.1):c.3787_3789delAAG (p.K1263del), MYH11(NM_001040113.2):c.3787_3789delAA..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15726947_15726949del" "" "likely pathogenic" "" "0000556807" "0" "70" "16" "15820804" "15820806" "del" "0" "02329" "MYH11_000068" "g.15820804_15820806del" "" "" "" "MYH11(NM_001040113.1):c.3787_3789del (p.(Lys1263del)), MYH11(NM_001040113.1):c.3787_3789delAAG (p.K1263del), MYH11(NM_001040113.2):c.3787_3789delAA..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15726947_15726949del" "" "likely pathogenic" "" "0000556808" "0" "30" "16" "15820917" "15820917" "subst" "0.00247742" "01943" "MYH11_000177" "g.15820917G>A" "" "" "" "MYH11(NM_001040113.1):c.3673-6C>T (p.(=)), MYH11(NM_001040113.2):c.3673-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15727060G>A" "" "likely benign" "" "0000556809" "0" "30" "16" "15820917" "15820917" "subst" "0.00247742" "01804" "MYH11_000177" "g.15820917G>A" "" "" "" "MYH11(NM_001040113.1):c.3673-6C>T (p.(=)), MYH11(NM_001040113.2):c.3673-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15727060G>A" "" "likely benign" "" "0000556810" "0" "30" "16" "15820917" "15820917" "subst" "0.00247742" "02327" "MYH11_000177" "g.15820917G>A" "" "" "" "MYH11(NM_001040113.1):c.3673-6C>T (p.(=)), MYH11(NM_001040113.2):c.3673-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15727060G>A" "" "likely benign" "" "0000556811" "0" "10" "16" "15820917" "15820917" "subst" "0.00247742" "02326" "MYH11_000177" "g.15820917G>A" "" "" "" "MYH11(NM_001040113.1):c.3673-6C>T (p.(=)), MYH11(NM_001040113.2):c.3673-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15727060G>A" "" "benign" "" "0000556812" "0" "10" "16" "15820917" "15820917" "subst" "0.00247742" "02329" "MYH11_000177" "g.15820917G>A" "" "" "" "MYH11(NM_001040113.1):c.3673-6C>T (p.(=)), MYH11(NM_001040113.2):c.3673-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15727060G>A" "" "benign" "" "0000556813" "0" "50" "16" "15826493" "15826493" "subst" "4.06108E-6" "01804" "MYH11_000072" "g.15826493C>G" "" "" "" "MYH11(NM_001040113.1):c.3600G>C (p.Q1200H), MYH11(NM_001040114.1):c.3600G>C (p.(Gln1200His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15732636C>G" "" "VUS" "" "0000556814" "0" "50" "16" "15826509" "15826509" "subst" "1.62447E-5" "02329" "MYH11_000178" "g.15826509C>T" "" "" "" "MYH11(NM_001040113.2):c.3584G>A (p.R1195Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15732652C>T" "" "VUS" "" "0000556815" "0" "50" "16" "15826510" "15826510" "subst" "0.000166516" "02329" "MYH11_000073" "g.15826510G>A" "" "" "" "MYH11(NM_001040113.1):c.3583C>T (p.R1195W), MYH11(NM_001040113.2):c.3583C>T (p.R1195W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15732653G>A" "" "VUS" "" "0000556816" "0" "30" "16" "15826541" "15826541" "subst" "0.000666103" "01943" "MYH11_000179" "g.15826541C>T" "" "" "" "MYH11(NM_001040113.1):c.3552G>A (p.T1184=), MYH11(NM_001040113.2):c.3552G>A (p.T1184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15732684C>T" "" "likely benign" "" "0000556817" "0" "50" "16" "15829233" "15829233" "subst" "4.06382E-6" "01943" "MYH11_000180" "g.15829233G>C" "" "" "" "MYH11(NM_001040113.1):c.3517C>G (p.Q1173E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15735376G>C" "" "VUS" "" "0000556818" "0" "30" "16" "15829309" "15829309" "subst" "4.06062E-6" "01943" "MYH11_000181" "g.15829309C>T" "" "" "" "MYH11(NM_001040113.1):c.3441G>A (p.Q1147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15735452C>T" "" "likely benign" "" "0000556819" "0" "10" "16" "15829419" "15829419" "subst" "0.00281421" "02327" "MYH11_000075" "g.15829419C>T" "" "" "" "MYH11(NM_001040113.1):c.3331G>A (p.(Ala1111Thr)), MYH11(NM_001040113.2):c.3331G>A (p.A1111T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15735562C>T" "" "benign" "" "0000556820" "0" "30" "16" "15829420" "15829420" "subst" "5.2791E-5" "01943" "MYH11_000182" "g.15829420G>A" "" "" "" "MYH11(NM_001040113.1):c.3330C>T (p.I1110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15735563G>A" "" "likely benign" "" "0000556822" "0" "50" "16" "15829440" "15829440" "subst" "0" "02329" "MYH11_000183" "g.15829440C>T" "" "" "" "MYH11(NM_001040113.2):c.3315-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15735583C>T" "" "VUS" "" "0000556823" "0" "30" "16" "15829445" "15829445" "del" "2.84326E-5" "02326" "MYH11_000184" "g.15829445del" "" "" "" "MYH11(NM_001040113.2):c.3315-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15735588del" "" "likely benign" "" "0000556824" "0" "30" "16" "15829445" "15829445" "del" "2.84326E-5" "02329" "MYH11_000184" "g.15829445del" "" "" "" "MYH11(NM_001040113.2):c.3315-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15735588del" "" "likely benign" "" "0000556825" "0" "30" "16" "15831308" "15831308" "subst" "8.5636E-5" "02327" "MYH11_000185" "g.15831308G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15737451G>A" "" "likely benign" "" "0000556826" "0" "50" "16" "15831364" "15831364" "subst" "5.28374E-5" "01943" "MYH11_000186" "g.15831364C>T" "" "" "" "MYH11(NM_001040113.1):c.3256G>A (p.A1086T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15737507C>T" "" "VUS" "" "0000556827" "0" "30" "16" "15831386" "15831386" "subst" "8.12539E-6" "01943" "MYH11_000187" "g.15831386G>A" "" "" "" "MYH11(NM_001040113.1):c.3234C>T (p.I1078=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15737529G>A" "" "likely benign" "" "0000556828" "0" "30" "16" "15832512" "15832512" "subst" "0.000434553" "02326" "MYH11_000080" "g.15832512A>G" "" "" "" "MYH11(NM_001040113.1):c.3052T>C (p.L1018=), MYH11(NM_001040113.2):c.3052T>C (p.L1018=), MYH11(NM_002474.3):c.3031T>C (p.L1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15738655A>G" "" "likely benign" "" "0000556829" "0" "30" "16" "15832512" "15832512" "subst" "0.000434553" "02329" "MYH11_000080" "g.15832512A>G" "" "" "" "MYH11(NM_001040113.1):c.3052T>C (p.L1018=), MYH11(NM_001040113.2):c.3052T>C (p.L1018=), MYH11(NM_002474.3):c.3031T>C (p.L1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15738655A>G" "" "likely benign" "" "0000556830" "0" "50" "16" "15835374" "15835374" "subst" "0" "02329" "MYH11_000188" "g.15835374T>G" "" "" "" "MYH11(NM_001040113.2):c.2826A>C (p.E942D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15741517T>G" "" "VUS" "" "0000556831" "0" "30" "16" "15835377" "15835377" "subst" "0.000209719" "02327" "MYH11_000085" "g.15835377C>T" "" "" "" "MYH11(NM_001040113.1):c.2823G>A (p.E941=), MYH11(NM_001040113.2):c.2823G>A (p.E941=), MYH11(NM_002474.3):c.2802G>A (p.E934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15741520C>T" "" "likely benign" "" "0000556832" "0" "30" "16" "15835620" "15835620" "subst" "0.000138072" "02327" "MYH11_000189" "g.15835620C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15741763C>T" "" "likely benign" "" "0000556833" "0" "30" "16" "15835621" "15835621" "subst" "0.00038172" "02327" "MYH11_000190" "g.15835621G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15741764G>A" "" "likely benign" "" "0000556835" "0" "30" "16" "15835714" "15835714" "subst" "0" "02327" "MYH11_000192" "g.15835714T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15741857T>C" "" "likely benign" "" "0000556836" "0" "10" "16" "15839103" "15839103" "subst" "0.00327245" "02327" "MYH11_000089" "g.15839103G>T" "" "" "" "MYH11(NM_001040113.2):c.2433-9C>A, MYH11(NM_002474.3):c.2412-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15745246G>T" "" "benign" "" "0000556837" "0" "50" "16" "15841786" "15841786" "subst" "1.62437E-5" "02329" "MYH11_000193" "g.15841786G>A" "" "" "" "MYH11(NM_001040113.2):c.2216C>T (p.A739V), MYH11(NM_002474.2):c.2195C>T (p.(Ala732Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15747929G>A" "" "VUS" "" "0000556838" "0" "50" "16" "15841934" "15841934" "subst" "0" "01943" "MYH11_000194" "g.15841934T>C" "" "" "" "MYH11(NM_001040113.1):c.2171A>G (p.N724S), MYH11(NM_002474.3):c.2150A>G (p.(Asn717Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15748077T>C" "" "VUS" "" "0000556839" "0" "30" "16" "15842005" "15842005" "subst" "0.015933" "01804" "MYH11_000092" "g.15842005G>A" "" "" "" "MYH11(NM_001040113.2):c.2100C>T (p.F700=), MYH11(NM_002474.3):c.2079C>T (p.(Phe693=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15748148G>A" "" "likely benign" "" "0000556841" "0" "30" "16" "15842009" "15842009" "subst" "0.000252316" "02329" "MYH11_000093" "g.15842009G>A" "" "" "" "MYH11(NM_001040113.1):c.2096C>T (p.A699V), MYH11(NM_001040113.2):c.2096C>T (p.A699V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15748152G>A" "" "likely benign" "" "0000556842" "0" "10" "16" "15843965" "15843965" "subst" "0.142548" "02327" "MYH11_000195" "g.15843965G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15750108G>A" "" "benign" "" "0000556843" "0" "50" "16" "15844174" "15844174" "subst" "0.000184677" "01943" "MYH11_000098" "g.15844174C>T" "" "" "" "MYH11(NM_001040113.1):c.1900G>A (p.G634S, p.(Gly634Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15750317C>T" "" "VUS" "" "0000556844" "0" "30" "16" "15847268" "15847268" "subst" "4.06065E-6" "01943" "MYH11_000196" "g.15847268G>C" "" "" "" "MYH11(NM_001040113.1):c.1868C>G (p.A623G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15753411G>C" "" "likely benign" "" "0000556845" "0" "50" "16" "15850226" "15850226" "subst" "0" "02329" "MYH11_000197" "g.15850226T>A" "" "" "" "MYH11(NM_001040113.2):c.1742A>T (p.E581V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15756369T>A" "" "VUS" "" "0000556846" "0" "30" "16" "15851679" "15851679" "del" "0" "01943" "MYH11_000198" "g.15851679del" "" "" "" "MYH11(NM_001040113.1):c.1596+8delG, MYH11(NM_001040113.2):c.1596+8delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15757822del" "" "likely benign" "" "0000556848" "0" "30" "16" "15851747" "15851747" "subst" "0.000186788" "01943" "MYH11_000199" "g.15851747G>A" "" "" "" "MYH11(NM_001040113.1):c.1533C>T (p.I511=), MYH11(NM_001040113.2):c.1533C>T (p.I511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15757890G>A" "" "likely benign" "" "0000556850" "0" "50" "16" "15851757" "15851757" "subst" "0.000194908" "02325" "MYH11_000105" "g.15851757C>T" "" "" "" "MYH11(NM_001040113.1):c.1523G>A (p.R508H), MYH11(NM_001040113.2):c.1523G>A (p.R508H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15757900C>T" "" "VUS" "" "0000556851" "0" "30" "16" "15851819" "15851819" "subst" "8.12123E-6" "01943" "MYH11_000200" "g.15851819G>A" "" "" "" "MYH11(NM_001040113.1):c.1461C>T (p.N487=), MYH11(NM_001040113.2):c.1461C>T (p.N487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15757962G>A" "" "likely benign" "" "0000556852" "0" "30" "16" "15851819" "15851819" "subst" "8.12123E-6" "02329" "MYH11_000200" "g.15851819G>A" "" "" "" "MYH11(NM_001040113.1):c.1461C>T (p.N487=), MYH11(NM_001040113.2):c.1461C>T (p.N487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15757962G>A" "" "likely benign" "" "0000556853" "0" "10" "16" "15851840" "15851840" "subst" "0.00152277" "01943" "MYH11_000106" "g.15851840C>T" "" "" "" "MYH11(NM_001040113.1):c.1440G>A (p.Q480=), MYH11(NM_001040113.2):c.1440G>A (p.Q480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15757983C>T" "" "benign" "" "0000556854" "0" "30" "16" "15851846" "15851846" "subst" "3.24863E-5" "01943" "MYH11_000107" "g.15851846G>A" "" "" "" "MYH11(NM_001040113.1):c.1434C>T (p.F478=), MYH11(NM_001040113.2):c.1434C>T (p.F478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15757989G>A" "" "likely benign" "" "0000556855" "0" "50" "16" "15851869" "15851869" "subst" "8.12288E-6" "01943" "MYH11_000108" "g.15851869G>C" "" "" "" "MYH11(NM_001040113.1):c.1423-12C>G, MYH11(NM_001040113.2):c.1423-12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15758012G>C" "" "VUS" "" "0000556856" "0" "30" "16" "15853423" "15853423" "subst" "3.65521E-5" "02326" "MYH11_000201" "g.15853423C>T" "" "" "" "MYH11(NM_001040113.2):c.1422+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15759566C>T" "" "likely benign" "" "0000556857" "0" "50" "16" "15853476" "15853476" "subst" "0" "02329" "MYH11_000202" "g.15853476G>C" "" "" "" "MYH11(NM_001040113.2):c.1379C>G (p.S460C), MYH11(NM_002474.2):c.1358C>G (p.(Ser453Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15759619G>C" "" "VUS" "" "0000556858" "0" "30" "16" "15857705" "15857705" "subst" "2.03176E-5" "02326" "MYH11_000203" "g.15857705G>A" "" "" "" "MYH11(NM_001040113.1):c.1098C>T (p.I366=), MYH11(NM_001040113.2):c.1098C>T (p.I366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15763848G>A" "" "likely benign" "" "0000556859" "0" "30" "16" "15857760" "15857760" "subst" "0.000349824" "02327" "MYH11_000204" "g.15857760A>C" "" "" "" "MYH11(NM_002474.3):c.1034-12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15763903A>C" "" "likely benign" "" "0000556860" "0" "50" "16" "15865464" "15865464" "subst" "0" "02327" "MYH11_000205" "g.15865464G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15771607G>C" "" "VUS" "" "0000556861" "0" "50" "16" "15865524" "15865524" "subst" "3.65521E-5" "01943" "MYH11_000206" "g.15865524T>C" "" "" "" "MYH11(NM_001040113.1):c.956A>G (p.N319S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15771667T>C" "" "VUS" "" "0000556863" "0" "30" "16" "15865545" "15865545" "subst" "0.000645801" "02329" "MYH11_000114" "g.15865545T>C" "" "" "" "MYH11(NM_001040113.1):c.935A>G (p.N312S), MYH11(NM_001040113.2):c.935A>G (p.N312S), MYH11(NM_002474.3):c.914A>G (p.N305S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15771688T>C" "" "likely benign" "" "0000556864" "0" "30" "16" "15870032" "15870032" "subst" "0.0292035" "01804" "MYH11_000115" "g.15870032A>G" "" "" "" "MYH11(NM_001040113.2):c.813T>C (p.Y271=), MYH11(NM_002474.3):c.792T>C (p.(Tyr264=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15776175A>G" "" "likely benign" "" "0000556865" "0" "30" "16" "15870032" "15870032" "subst" "0.0292035" "02327" "MYH11_000115" "g.15870032A>G" "" "" "" "MYH11(NM_001040113.2):c.813T>C (p.Y271=), MYH11(NM_002474.3):c.792T>C (p.(Tyr264=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15776175A>G" "" "likely benign" "" "0000556866" "0" "30" "16" "15870045" "15870045" "subst" "2.0309E-5" "02327" "MYH11_000207" "g.15870045G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15776188G>A" "" "likely benign" "" "0000556867" "0" "30" "16" "15872688" "15872688" "subst" "0.00177471" "01943" "MYH11_000116" "g.15872688G>A" "" "" "" "MYH11(NM_001040113.1):c.760C>T (p.R254C, p.(Arg254Cys)), MYH11(NM_001040113.2):c.760C>T (p.R254C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15778831G>A" "" "likely benign" "" "0000556868" "0" "30" "16" "15872688" "15872688" "subst" "0.00177471" "02326" "MYH11_000116" "g.15872688G>A" "" "" "" "MYH11(NM_001040113.1):c.760C>T (p.R254C, p.(Arg254Cys)), MYH11(NM_001040113.2):c.760C>T (p.R254C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15778831G>A" "" "likely benign" "" "0000556869" "0" "30" "16" "15872688" "15872688" "subst" "0.00177471" "02329" "MYH11_000116" "g.15872688G>A" "" "" "" "MYH11(NM_001040113.1):c.760C>T (p.R254C, p.(Arg254Cys)), MYH11(NM_001040113.2):c.760C>T (p.R254C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15778831G>A" "" "likely benign" "" "0000556870" "0" "30" "16" "15876278" "15876278" "subst" "2.43922E-5" "01943" "MYH11_000208" "g.15876278G>A" "" "" "" "MYH11(NM_001040113.1):c.711C>T (p.N237=), MYH11(NM_001040113.2):c.711C>T (p.N237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15782421G>A" "" "likely benign" "" "0000556871" "0" "30" "16" "15892497" "15892497" "subst" "0" "02327" "MYH11_000123" "g.15892497G>A" "" "" "" "MYH11(NM_001040113.2):c.530+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15798640G>A" "" "likely benign" "" "0000556872" "0" "30" "16" "15917142" "15917142" "subst" "0.000121836" "02327" "MYH11_000209" "g.15917142C>T" "" "" "" "MYH11(NM_001040113.1):c.472G>A (p.A158T), MYH11(NM_001040113.2):c.472G>A (p.A158T), MYH11(NM_002474.3):c.472G>A (p.A158T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15823285C>T" "" "likely benign" "" "0000556873" "0" "30" "16" "15917185" "15917185" "subst" "0.000422308" "01943" "MYH11_000210" "g.15917185C>T" "" "" "" "MYH11(NM_001040113.1):c.429G>A (p.K143=), MYH11(NM_001040113.2):c.429G>A (p.K143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15823328C>T" "" "likely benign" "" "0000556874" "0" "30" "16" "15917277" "15917277" "dup" "0" "02329" "MYH11_000211" "g.15917277dup" "" "" "" "MYH11(NM_001040113.2):c.346-9dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15823420dup" "" "likely benign" "" "0000556876" "0" "10" "16" "15931819" "15931819" "subst" "0.00182332" "02329" "MYH11_000131" "g.15931819G>A" "" "" "" "MYH11(NM_001040113.1):c.291C>T (p.N97=), MYH11(NM_001040113.2):c.291C>T (p.N97=), MYH11(NM_002474.3):c.291C>T (p.N97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15837962G>A" "" "benign" "" "0000556877" "0" "50" "16" "15931878" "15931878" "subst" "0" "01943" "MYH11_000212" "g.15931878T>C" "" "" "" "MYH11(NM_001040113.1):c.232A>G (p.K78E), MYH11(NM_001040113.2):c.232A>G (p.K78E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15838021T>C" "" "VUS" "" "0000556878" "0" "50" "16" "15931949" "15931949" "subst" "4.0622E-6" "02329" "MYH11_000213" "g.15931949T>C" "" "" "" "MYH11(NM_001040113.2):c.161A>G (p.K54R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15838092T>C" "" "VUS" "" "0000556879" "0" "10" "16" "15931975" "15931975" "subst" "0.0121589" "02327" "MYH11_000133" "g.15931975G>A" "" "" "" "MYH11(NM_001040113.2):c.135C>T (p.F45=), MYH11(NM_002474.3):c.135C>T (p.(Phe45=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15838118G>A" "" "benign" "" "0000556881" "0" "10" "16" "15932098" "15932098" "subst" "0.000602597" "02327" "MYH11_000136" "g.15932098C>T" "" "" "" "MYH11(NM_001040113.1):c.12G>A (p.K4=), MYH11(NM_001040113.2):c.12G>A (p.K4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15838241C>T" "" "benign" "" "0000556882" "0" "30" "16" "15932098" "15932098" "subst" "0.000602597" "02326" "MYH11_000136" "g.15932098C>T" "" "" "" "MYH11(NM_001040113.1):c.12G>A (p.K4=), MYH11(NM_001040113.2):c.12G>A (p.K4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15838241C>T" "" "likely benign" "" "0000615726" "0" "30" "16" "15808861" "15808861" "subst" "0.00078031" "01943" "MYH11_000147" "g.15808861G>A" "" "" "" "MYH11(NM_001040113.1):c.5712C>T (p.N1904=), MYH11(NM_001040113.2):c.5712C>T (p.N1904=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15715004G>A" "" "likely benign" "" "0000615727" "0" "10" "16" "15808876" "15808876" "subst" "0.00502288" "02327" "MYH11_000014" "g.15808876C>G" "" "" "" "MYH11(NM_001040113.1):c.5697G>C (p.E1899D), MYH11(NM_001040113.2):c.5697G>C (p.E1899D), MYH11(NM_002474.3):c.5676G>C (p.E1892D), NDE1(NM_001143979...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15715019C>G" "" "benign" "" "0000615728" "0" "30" "16" "15811165" "15811165" "subst" "3.6878E-5" "02327" "MYH11_000215" "g.15811165G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15717308G>T" "" "likely benign" "" "0000615729" "0" "30" "16" "15811209" "15811209" "subst" "0.00596626" "01804" "MYH11_000027" "g.15811209G>A" "" "" "" "MYH11(NM_001040113.1):c.5317-4C>T (p.?), MYH11(NM_001040113.2):c.5317-4C>T, MYH11(NM_002474.3):c.5296-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15717352G>A" "" "likely benign" "" "0000615730" "0" "50" "16" "15813108" "15813108" "subst" "0" "02326" "MYH11_000217" "g.15813108C>T" "" "" "" "MYH11(NM_001040113.2):c.5161G>A (p.A1721T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15719251C>T" "" "VUS" "" "0000615731" "0" "50" "16" "15813153" "15813153" "subst" "2.45517E-5" "01943" "MYH11_000218" "g.15813153C>T" "" "" "" "MYH11(NM_001040113.1):c.5116G>A (p.A1706T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15719296C>T" "" "VUS" "" "0000615732" "0" "30" "16" "15814113" "15814113" "subst" "4.06147E-6" "02326" "MYH11_000219" "g.15814113A>G" "" "" "" "MYH11(NM_001040113.2):c.4869T>C (p.A1623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720256A>G" "" "likely benign" "" "0000615733" "0" "30" "16" "15814713" "15814713" "subst" "0.000235747" "02326" "MYH11_000221" "g.15814713T>G" "" "" "" "MYH11(NM_001040113.2):c.4795A>C (p.R1599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720856T>G" "" "likely benign" "" "0000615734" "0" "10" "16" "15814717" "15814717" "subst" "0.0138879" "01943" "MYH11_000036" "g.15814717C>T" "" "" "" "MYH11(NM_001040113.1):c.4791G>A (p.K1597=), MYH11(NM_001040113.2):c.4791G>A (p.K1597=), MYH11(NM_002474.3):c.4770G>A (p.(Lys1590=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720860C>T" "" "benign" "" "0000615735" "0" "30" "16" "15814828" "15814828" "subst" "0.000154317" "01943" "MYH11_000222" "g.15814828G>A" "" "" "" "MYH11(NM_001040113.1):c.4680C>T (p.D1560=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720971G>A" "" "likely benign" "" "0000615736" "0" "30" "16" "15815312" "15815312" "subst" "0" "02327" "MYH11_000223" "g.15815312G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15721455G>A" "" "likely benign" "" "0000615737" "0" "30" "16" "15818090" "15818090" "subst" "7.71517E-5" "02327" "MYH11_000053" "g.15818090G>A" "" "" "" "MYH11(NM_001040113.1):c.4314C>T (p.D1438=), MYH11(NM_001040113.2):c.4314C>T (p.D1438=), NDE1(NM_001143979.1):c.990G>A (p.R330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724233G>A" "" "likely benign" "" "0000615738" "0" "50" "16" "15818604" "15818604" "subst" "2.84819E-5" "02327" "MYH11_000224" "g.15818604C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724747C>T" "" "VUS" "" "0000615739" "0" "30" "16" "15818778" "15818778" "subst" "1.219E-5" "02327" "MYH11_000225" "g.15818778C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724921C>T" "" "likely benign" "" "0000615740" "0" "30" "16" "15818847" "15818847" "subst" "8.13464E-6" "01943" "MYH11_000227" "g.15818847A>G" "" "" "" "MYH11(NM_001040113.1):c.3882T>C (p.N1294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724990A>G" "" "likely benign" "" "0000615741" "0" "10" "16" "15820735" "15820735" "subst" "0.00283239" "02327" "MYH11_000175" "g.15820735C>T" "" "" "" "MYH11(NM_001040113.1):c.3849G>A (p.A1283=), MYH11(NM_001040113.2):c.3849G>A (p.A1283=), MYH11(NM_002474.3):c.3828G>A (p.A1276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15726878C>T" "" "benign" "" "0000615742" "0" "50" "16" "15820804" "15820806" "del" "0" "02327" "MYH11_000068" "g.15820804_15820806del" "" "" "" "MYH11(NM_001040113.1):c.3787_3789del (p.(Lys1263del)), MYH11(NM_001040113.1):c.3787_3789delAAG (p.K1263del), MYH11(NM_001040113.2):c.3787_3789delAA..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15726947_15726949del" "" "VUS" "" "0000615743" "0" "30" "16" "15829228" "15829228" "subst" "0" "02327" "MYH11_000228" "g.15829228C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15735371C>T" "" "likely benign" "" "0000615744" "0" "30" "16" "15829354" "15829354" "subst" "0.000101515" "01943" "MYH11_000229" "g.15829354C>G" "" "" "" "MYH11(NM_001040113.1):c.3396G>C (p.E1132D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15735497C>G" "" "likely benign" "" "0000615745" "0" "10" "16" "15832441" "15832441" "subst" "0.00101612" "02327" "MYH11_000078" "g.15832441A>G" "" "" "" "MYH11(NM_001040113.1):c.3123T>C (p.S1041=), MYH11(NM_001040113.2):c.3123T>C (p.S1041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15738584A>G" "" "benign" "" "0000615746" "0" "50" "16" "15839039" "15839039" "subst" "0" "02327" "MYH11_000230" "g.15839039A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15745182A>T" "" "VUS" "" "0000615747" "0" "30" "16" "15842009" "15842009" "subst" "0.000252316" "02327" "MYH11_000093" "g.15842009G>A" "" "" "" "MYH11(NM_001040113.1):c.2096C>T (p.A699V), MYH11(NM_001040113.2):c.2096C>T (p.A699V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15748152G>A" "" "likely benign" "" "0000615748" "0" "30" "16" "15844004" "15844004" "subst" "0.000513418" "02327" "MYH11_000095" "g.15844004G>A" "" "" "" "MYH11(NM_001040113.1):c.2070C>T (p.H690=), MYH11(NM_001040113.2):c.2070C>T (p.H690=), MYH11(NM_002474.3):c.2049C>T (p.H683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15750147G>A" "" "likely benign" "" "0000615749" "0" "30" "16" "15844100" "15844100" "subst" "0" "02327" "MYH11_000231" "g.15844100G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15750243G>A" "" "likely benign" "" "0000615750" "0" "30" "16" "15851757" "15851757" "subst" "0.000194908" "02327" "MYH11_000105" "g.15851757C>T" "" "" "" "MYH11(NM_001040113.1):c.1523G>A (p.R508H), MYH11(NM_001040113.2):c.1523G>A (p.R508H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15757900C>T" "" "likely benign" "" "0000615751" "0" "30" "16" "15851870" "15851870" "subst" "8.12374E-6" "02327" "MYH11_000232" "g.15851870C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15758013C>T" "" "likely benign" "" "0000615752" "0" "50" "16" "15869952" "15869952" "subst" "0" "02327" "MYH11_000233" "g.15869952G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15776095G>T" "" "VUS" "" "0000615753" "0" "50" "16" "15931906" "15931906" "subst" "2.84239E-5" "02327" "MYH11_000236" "g.15931906C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15838049C>G" "" "VUS" "" "0000623376" "0" "30" "16" "15808795" "15808795" "subst" "0.000749827" "02329" "MYH11_000214" "g.15808795G>A" "" "" "" "MYH11(NM_001040113.2):c.5778C>T (p.R1926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15714938G>A" "" "likely benign" "" "0000623377" "0" "10" "16" "15810989" "15810989" "subst" "0.00140071" "02329" "MYH11_000150" "g.15810989C>G" "" "" "" "MYH11(NM_001040113.2):c.5525+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15717132C>G" "" "benign" "" "0000623378" "0" "30" "16" "15812196" "15812196" "subst" "9.89813E-5" "01943" "MYH11_000216" "g.15812196G>T" "" "" "" "MYH11(NM_001040113.1):c.5292C>A (p.D1764E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15718339G>T" "" "likely benign" "" "0000623379" "0" "50" "16" "15814139" "15814139" "subst" "0.00010973" "01943" "MYH11_000220" "g.15814139C>T" "" "" "" "MYH11(NM_001040113.1):c.4843G>A (p.E1615K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720282C>T" "" "VUS" "" "0000623380" "0" "30" "16" "15818811" "15818811" "subst" "5.28129E-5" "01943" "MYH11_000226" "g.15818811G>A" "" "" "" "MYH11(NM_001040113.1):c.3918C>T (p.A1306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15724954G>A" "" "likely benign" "" "0000623381" "0" "30" "16" "15917143" "15917143" "subst" "0.000316746" "02326" "MYH11_000234" "g.15917143G>A" "" "" "" "MYH11(NM_001040113.2):c.471C>T (p.I157=), MYH11(NM_002474.3):c.471C>T (p.I157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15823286G>A" "" "likely benign" "" "0000623382" "0" "50" "16" "15931818" "15931818" "subst" "1.21823E-5" "01943" "MYH11_000235" "g.15931818C>T" "" "" "" "MYH11(NM_001040113.1):c.292G>A (p.E98K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15837961C>T" "" "VUS" "" "0000649236" "1" "50" "16" "15812194" "15812194" "subst" "0.000156647" "03575" "MYH11_000155" "g.15812194C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs142546324}" "Germline" "" "rs142546324" "0" "" "" "g.15718337C>T" "" "VUS" "" "0000649237" "1" "30" "16" "15819055" "15819055" "subst" "0" "03575" "MYH11_000237" "g.15819055G>A" "142/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "142 heterozygous; {DB:CLININrs760023}" "Germline" "" "rs760023" "0" "" "" "g.15725198G>A" "" "likely benign" "" "0000649238" "1" "30" "16" "15819328" "15819328" "subst" "0" "03575" "MYH11_000238" "g.15819328G>A" "144/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "144 heterozygous; {DB:CLININrs74009414}" "Germline" "" "rs74009414" "0" "" "" "g.15725471G>A" "" "likely benign" "" "0000649239" "1" "50" "16" "15851757" "15851757" "subst" "0.000194908" "03575" "MYH11_000105" "g.15851757C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; {DB:CLININrs144244239}" "Germline" "" "rs144244239" "0" "" "" "g.15757900C>T" "" "VUS" "" "0000657741" "0" "30" "16" "15811131" "15811131" "subst" "4.06775E-6" "01943" "MYH11_000239" "g.15811131G>C" "" "" "" "MYH11(NM_001040113.1):c.5391C>G (p.L1797=), MYH11(NM_001040113.2):c.5391C>G (p.L1797=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15717274G>C" "" "likely benign" "" "0000657742" "0" "30" "16" "15812190" "15812190" "subst" "9.88802E-5" "01943" "MYH11_000240" "g.15812190G>A" "" "" "" "MYH11(NM_001040113.1):c.5298C>T (p.V1766=), MYH11(NM_001040113.2):c.5298C>T (p.V1766=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15718333G>A" "" "likely benign" "" "0000657743" "0" "50" "16" "15814814" "15814814" "subst" "0.000698443" "02325" "MYH11_000038" "g.15814814G>A" "" "" "" "MYH11(NM_001040113.1):c.4694C>T (p.T1565M, p.(Thr1565Met)), MYH11(NM_001040113.2):c.4694C>T (p.T1565M), MYH11(NM_002474.3):c.4673C>T (p.T1558M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15720957G>A" "" "VUS" "" "0000657744" "0" "50" "16" "15814883" "15814883" "subst" "0.00221767" "02325" "MYH11_000165" "g.15814883C>T" "" "" "" "MYH11(NM_001040113.1):c.4625G>A (p.R1542Q), MYH11(NM_001040113.2):c.4625G>A (p.R1542Q), MYH11(NM_002474.2):c.4604G>A (p.(Arg1535Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15721026C>T" "" "VUS" "" "0000657745" "0" "30" "16" "15833895" "15833895" "subst" "5.28683E-5" "02329" "MYH11_000241" "g.15833895G>A" "" "" "" "MYH11(NM_001040113.2):c.3018+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15740038G>A" "" "likely benign" "" "0000657746" "0" "30" "16" "15839446" "15839446" "subst" "0" "02329" "MYH11_000242" "g.15839446T>C" "" "" "" "MYH11(NM_001040113.2):c.2433-352A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15745589T>C" "" "likely benign" "" "0000657747" "0" "30" "16" "15844004" "15844004" "subst" "0.000513418" "02326" "MYH11_000095" "g.15844004G>A" "" "" "" "MYH11(NM_001040113.1):c.2070C>T (p.H690=), MYH11(NM_001040113.2):c.2070C>T (p.H690=), MYH11(NM_002474.3):c.2049C>T (p.H683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15750147G>A" "" "likely benign" "" "0000657748" "0" "30" "16" "15851756" "15851756" "subst" "2.03028E-5" "02326" "MYH11_000243" "g.15851756G>C" "" "" "" "MYH11(NM_001040113.2):c.1524C>G (p.R508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15757899G>C" "" "likely benign" "" "0000657749" "0" "30" "16" "15872864" "15872864" "subst" "0" "02329" "MYH11_000244" "g.15872864C>T" "" "" "" "MYH11(NM_001040113.2):c.748-164G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15779007C>T" "" "likely benign" "" "0000657750" "0" "30" "16" "15873018" "15873018" "subst" "0" "02329" "MYH11_000245" "g.15873018C>T" "" "" "" "MYH11(NM_001040113.2):c.748-318G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15779161C>T" "" "likely benign" "" "0000666201" "3" "70" "16" "15865425" "15865425" "subst" "0" "00006" "MYH11_000246" "g.15865425C>T" "" "{PMID:Maddirevula 2019:30237576}" "" "NM_022844.2:c.1033+1G>A" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.15771568C>T" "" "likely pathogenic (recessive)" "ACMG" "0000669313" "3" "30" "16" "15819055" "15819055" "subst" "0" "03575" "MYH11_000237" "g.15819055G>A" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs760023}" "Germline" "" "rs760023" "0" "" "" "g.15725198G>A" "" "likely benign" "" "0000669314" "3" "30" "16" "15819328" "15819328" "subst" "0" "03575" "MYH11_000238" "g.15819328G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs74009414}" "Germline" "" "rs74009414" "0" "" "" "g.15725471G>A" "" "likely benign" "" "0000680394" "0" "30" "16" "15809106" "15809106" "subst" "4.87508E-5" "01943" "MYH11_000247" "g.15809106G>A" "" "" "" "MYH11(NM_001040113.1):c.5549C>T (p.S1850L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680395" "0" "30" "16" "15812241" "15812241" "subst" "0.000591273" "02326" "MYH11_000030" "g.15812241C>G" "" "" "" "MYH11(NM_001040113.1):c.5247G>C (p.E1749D), MYH11(NM_001040113.2):c.5247G>C (p.E1749D), MYH11(NM_002474.2):c.5226G>C (p.(Glu1742Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680396" "0" "50" "16" "15818128" "15818128" "subst" "4.06065E-6" "02326" "MYH11_000248" "g.15818128C>G" "" "" "" "MYH11(NM_001040113.2):c.4276G>C (p.E1426Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680397" "0" "30" "16" "15818661" "15818661" "subst" "0" "01943" "MYH11_000249" "g.15818661A>G" "" "" "" "MYH11(NM_001040113.1):c.3985-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680398" "0" "30" "16" "15818835" "15818835" "subst" "2.84518E-5" "02329" "MYH11_000250" "g.15818835G>A" "" "" "" "MYH11(NM_001040113.2):c.3894C>T (p.S1298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680399" "0" "70" "16" "15820804" "15820806" "del" "0" "02325" "MYH11_000068" "g.15820804_15820806del" "" "" "" "MYH11(NM_001040113.1):c.3787_3789del (p.(Lys1263del)), MYH11(NM_001040113.1):c.3787_3789delAAG (p.K1263del), MYH11(NM_001040113.2):c.3787_3789delAA..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000680400" "0" "30" "16" "15826510" "15826510" "subst" "0.000166516" "02326" "MYH11_000073" "g.15826510G>A" "" "" "" "MYH11(NM_001040113.1):c.3583C>T (p.R1195W), MYH11(NM_001040113.2):c.3583C>T (p.R1195W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680401" "0" "30" "16" "15826541" "15826541" "subst" "0.000666103" "02326" "MYH11_000179" "g.15826541C>T" "" "" "" "MYH11(NM_001040113.1):c.3552G>A (p.T1184=), MYH11(NM_001040113.2):c.3552G>A (p.T1184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680402" "0" "30" "16" "15831705" "15831705" "subst" "0" "02329" "MYH11_000251" "g.15831705A>C" "" "" "" "MYH11(NM_001040113.2):c.3143-228T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680403" "0" "30" "16" "15832441" "15832441" "subst" "0.00101612" "02329" "MYH11_000078" "g.15832441A>G" "" "" "" "MYH11(NM_001040113.1):c.3123T>C (p.S1041=), MYH11(NM_001040113.2):c.3123T>C (p.S1041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680404" "0" "30" "16" "15847252" "15847252" "subst" "4.87318E-5" "01943" "MYH11_000252" "g.15847252G>A" "" "" "" "MYH11(NM_001040113.1):c.1884C>T (p.D628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680405" "0" "30" "16" "15857704" "15857704" "subst" "5.28258E-5" "01943" "MYH11_000111" "g.15857704C>T" "" "" "" "MYH11(NM_001040113.1):c.1099G>A (p.V367I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680406" "0" "30" "16" "15857705" "15857705" "subst" "2.03176E-5" "01943" "MYH11_000203" "g.15857705G>A" "" "" "" "MYH11(NM_001040113.1):c.1098C>T (p.I366=), MYH11(NM_001040113.2):c.1098C>T (p.I366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680407" "0" "30" "16" "15917284" "15917284" "subst" "0.000393982" "02326" "MYH11_000253" "g.15917284C>G" "" "" "" "MYH11(NM_001040113.2):c.346-16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680408" "0" "50" "16" "15931878" "15931878" "subst" "0" "02326" "MYH11_000212" "g.15931878T>C" "" "" "" "MYH11(NM_001040113.1):c.232A>G (p.K78E), MYH11(NM_001040113.2):c.232A>G (p.K78E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680409" "0" "30" "16" "15932017" "15932017" "subst" "2.44658E-5" "02326" "MYH11_000254" "g.15932017G>A" "" "" "" "MYH11(NM_001040113.2):c.93C>T (p.A31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680410" "0" "30" "16" "15932053" "15932053" "subst" "0.000257635" "02326" "MYH11_000255" "g.15932053G>A" "" "" "" "MYH11(NM_001040113.1):c.57C>T (p.N19=), MYH11(NM_001040113.2):c.57C>T (p.N19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691942" "0" "30" "16" "15802687" "15802687" "subst" "0.000393264" "02326" "MYH11_000008" "g.15802687G>C" "" "" "" "MYH11(NM_001040113.1):c.5819C>G (p.P1940R), MYH11(NM_001040113.2):c.5819C>G (p.P1940R), MYH11(NM_002474.3):c.5787-4707C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691943" "0" "30" "16" "15813584" "15813584" "subst" "0.000146231" "02326" "MYH11_000256" "g.15813584C>G" "" "" "" "MYH11(NM_001040113.2):c.4975-14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691944" "0" "30" "16" "15818280" "15818280" "subst" "2.87928E-5" "02326" "MYH11_000257" "g.15818280G>A" "" "" "" "MYH11(NM_001040113.2):c.4138-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691945" "0" "10" "16" "15820689" "15820689" "subst" "0.00170284" "02326" "MYH11_000066" "g.15820689C>G" "" "" "" "MYH11(NM_001040113.2):c.3879+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000691946" "0" "50" "16" "15820797" "15820797" "subst" "0.000301082" "01943" "MYH11_000069" "g.15820797T>G" "" "" "" "MYH11(NM_001040113.1):c.3787A>C (p.K1263Q), MYH11(NM_001040113.2):c.3787A>C (p.K1263Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691947" "0" "50" "16" "15820818" "15820820" "del" "0" "02326" "MYH11_000258" "g.15820818_15820820del" "" "" "" "MYH11(NM_001040113.2):c.3767_3769delAGG (p.E1256del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691948" "0" "30" "16" "15829580" "15829580" "subst" "0" "02329" "MYH11_000259" "g.15829580G>A" "" "" "" "MYH11(NM_001040113.2):c.3315-145C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691949" "0" "30" "16" "15835853" "15835853" "subst" "0" "02329" "MYH11_000260" "g.15835853C>T" "" "" "" "MYH11(NM_001040113.2):c.2542-105G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691950" "0" "30" "16" "15851586" "15851586" "subst" "0" "02329" "MYH11_000261" "g.15851586T>C" "" "" "" "MYH11(NM_001040113.2):c.1596+98A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691951" "0" "30" "16" "15865850" "15865850" "subst" "0" "02329" "MYH11_000262" "g.15865850G>A" "" "" "" "MYH11(NM_001040113.2):c.911-281C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691952" "0" "30" "16" "15870186" "15870186" "subst" "0" "02329" "MYH11_000263" "g.15870186C>T" "" "" "" "MYH11(NM_001040113.2):c.812-153G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725461" "0" "30" "16" "15809105" "15809105" "subst" "0.000532213" "02329" "MYH11_000264" "g.15809105C>T" "" "" "" "MYH11(NM_001040113.1):c.5550G>A (p.S1850=), MYH11(NM_001040113.2):c.5550G>A (p.S1850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725462" "0" "30" "16" "15811828" "15811828" "subst" "0" "02329" "MYH11_000265" "g.15811828C>T" "" "" "" "MYH11(NM_001040113.2):c.5316+344G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725463" "0" "30" "16" "15813088" "15813088" "subst" "0.000154542" "01943" "MYH11_000266" "g.15813088G>A" "" "" "" "MYH11(NM_001040113.1):c.5181C>T (p.S1727=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725464" "0" "30" "16" "15818279" "15818279" "subst" "0" "02329" "MYH11_000267" "g.15818279C>T" "" "" "" "MYH11(NM_001040113.2):c.4138-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725465" "0" "30" "16" "15831536" "15831536" "subst" "0" "02329" "MYH11_000268" "g.15831536A>G" "" "" "" "MYH11(NM_001040113.2):c.3143-59T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725466" "0" "30" "16" "15833944" "15833944" "subst" "0.000337037" "02326" "MYH11_000269" "g.15833944G>A" "" "" "" "MYH11(NM_001040113.2):c.2982C>T (p.I994=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725467" "0" "30" "16" "15835377" "15835377" "subst" "0.000209719" "02326" "MYH11_000085" "g.15835377C>T" "" "" "" "MYH11(NM_001040113.1):c.2823G>A (p.E941=), MYH11(NM_001040113.2):c.2823G>A (p.E941=), MYH11(NM_002474.3):c.2802G>A (p.E934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725468" "0" "30" "16" "15839103" "15839103" "subst" "7.74303E-5" "01943" "MYH11_000270" "g.15839103G>C" "" "" "" "MYH11(NM_001040113.1):c.2433-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725469" "0" "30" "16" "15844048" "15844048" "subst" "0.000710845" "01943" "MYH11_000096" "g.15844048G>A" "" "" "" "MYH11(NM_001040113.1):c.2026C>T (p.R676C), MYH11(NM_001040113.2):c.2026C>T (p.R676C), MYH11(NM_002474.3):c.2005C>T (p.(Arg669Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725470" "0" "30" "16" "15851398" "15851398" "subst" "0" "02329" "MYH11_000271" "g.15851398C>A" "" "" "" "MYH11(NM_001040113.2):c.1596+286G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725471" "0" "30" "16" "15851402" "15851402" "subst" "0" "02329" "MYH11_000272" "g.15851402G>A" "" "" "" "MYH11(NM_001040113.2):c.1596+282C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725472" "0" "30" "16" "15851677" "15851677" "subst" "0.000158806" "02326" "MYH11_000273" "g.15851677C>T" "" "" "" "MYH11(NM_001040113.2):c.1596+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725473" "0" "30" "16" "15872264" "15872264" "subst" "0" "02329" "MYH11_000274" "g.15872264T>C" "" "" "" "MYH11(NM_001040113.2):c.811+373A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725474" "0" "50" "16" "15931856" "15931856" "subst" "0" "01943" "MYH11_000275" "g.15931856G>A" "" "" "" "MYH11(NM_001040113.1):c.254C>T (p.S85F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000736497" "10" "90" "16" "15815276" "15815276" "subst" "0" "03731" "MYH11_000276" "g.15815276T>G" "" "{PMID:Chesneau 2021:34672437}, {DOI:Chesneau 2021:10.1002/mgg3.1814}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15721419T>G" "" "pathogenic (dominant)" "ACMG" "0000807081" "0" "30" "16" "15808861" "15808861" "subst" "0.00078031" "02326" "MYH11_000147" "g.15808861G>A" "" "" "" "MYH11(NM_001040113.1):c.5712C>T (p.N1904=), MYH11(NM_001040113.2):c.5712C>T (p.N1904=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807082" "0" "30" "16" "15809039" "15809039" "subst" "7.31511E-5" "02326" "MYH11_000277" "g.15809039G>A" "" "" "" "MYH11(NM_001040113.2):c.5616C>T (p.A1872=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807083" "0" "30" "16" "15811131" "15811131" "subst" "4.06775E-6" "02326" "MYH11_000239" "g.15811131G>C" "" "" "" "MYH11(NM_001040113.1):c.5391C>G (p.L1797=), MYH11(NM_001040113.2):c.5391C>G (p.L1797=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807084" "0" "50" "16" "15811148" "15811148" "subst" "0.000110083" "01943" "MYH11_000278" "g.15811148T>A" "" "" "" "MYH11(NM_001040113.1):c.5374A>T (p.S1792C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807085" "0" "30" "16" "15814164" "15814164" "subst" "8.14797E-6" "02326" "MYH11_000279" "g.15814164G>A" "" "" "" "MYH11(NM_001040113.2):c.4818C>T (p.H1606=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807086" "0" "90" "16" "15815278" "15815278" "subst" "0" "02326" "MYH11_000280" "g.15815278C>T" "" "" "" "MYH11(NM_001040113.2):c.4599+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807087" "0" "30" "16" "15818009" "15818009" "subst" "3.25042E-5" "02329" "MYH11_000049" "g.15818009G>A" "" "" "" "MYH11(NM_001040113.1):c.4386+9C>T, MYH11(NM_001040113.2):c.4386+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807088" "0" "30" "16" "15818143" "15818143" "subst" "0.000450747" "02326" "MYH11_000281" "g.15818143C>T" "" "" "" "MYH11(NM_001040113.2):c.4261G>A (p.A1421T), MYH11(NM_002474.3):c.4240G>A (p.A1414T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807089" "0" "50" "16" "15829377" "15829377" "subst" "0" "01943" "MYH11_000282" "g.15829377C>A" "" "" "" "MYH11(NM_001040113.1):c.3373G>T (p.G1125C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807090" "0" "30" "16" "15835377" "15835377" "subst" "0.000209719" "01943" "MYH11_000085" "g.15835377C>T" "" "" "" "MYH11(NM_001040113.1):c.2823G>A (p.E941=), MYH11(NM_001040113.2):c.2823G>A (p.E941=), MYH11(NM_002474.3):c.2802G>A (p.E934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807091" "0" "30" "16" "15835446" "15835446" "subst" "5.30115E-5" "01943" "MYH11_000283" "g.15835446C>T" "" "" "" "MYH11(NM_001040113.1):c.2754G>A (p.V918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807092" "0" "30" "16" "15851677" "15851677" "subst" "0.000158806" "02329" "MYH11_000273" "g.15851677C>T" "" "" "" "MYH11(NM_001040113.2):c.1596+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807093" "0" "30" "16" "15876248" "15876248" "subst" "1.62615E-5" "02326" "MYH11_000284" "g.15876248T>A" "" "" "" "MYH11(NM_001040113.2):c.741A>T (p.S247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807094" "0" "30" "16" "15917142" "15917142" "subst" "0.000121836" "02326" "MYH11_000209" "g.15917142C>T" "" "" "" "MYH11(NM_001040113.1):c.472G>A (p.A158T), MYH11(NM_001040113.2):c.472G>A (p.A158T), MYH11(NM_002474.3):c.472G>A (p.A158T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807095" "0" "30" "16" "15917149" "15917149" "subst" "1.62434E-5" "01943" "MYH11_000285" "g.15917149G>A" "" "" "" "MYH11(NM_001040113.1):c.465C>T (p.Y155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807096" "0" "30" "16" "15932053" "15932053" "subst" "0.000257635" "01943" "MYH11_000255" "g.15932053G>A" "" "" "" "MYH11(NM_001040113.1):c.57C>T (p.N19=), MYH11(NM_001040113.2):c.57C>T (p.N19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000831671" "0" "50" "16" "15814112" "15814112" "subst" "0" "00006" "MYH11_000161" "g.15814112C>A" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000831702" "1" "70" "16" "15829440" "15829440" "subst" "0" "00006" "MYH11_000183" "g.15829440C>T" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.15735583C>T" "" "likely pathogenic" "" "0000831703" "1" "70" "16" "15812195" "15812195" "subst" "0" "00006" "MYH11_000028" "g.15812195G>A" "2/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.15718338G>A" "" "likely pathogenic" "" "0000831764" "1" "50" "16" "15931949" "15931949" "subst" "4.0622E-6" "00006" "MYH11_000213" "g.15931949T>C" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.15838092T>C" "" "VUS" "" "0000831765" "11" "50" "16" "15853476" "15853476" "subst" "0" "00006" "MYH11_000202" "g.15853476G>C" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15759619G>C" "" "VUS" "" "0000831766" "1" "50" "16" "15841786" "15841786" "subst" "1.62437E-5" "00006" "MYH11_000193" "g.15841786G>A" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.15747929G>A" "" "VUS" "" "0000831767" "1" "50" "16" "15826510" "15826510" "subst" "0.000166516" "00006" "MYH11_000073" "g.15826510G>A" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.15732653G>A" "" "VUS" "" "0000831768" "1" "50" "16" "15820804" "15820806" "del" "0" "00006" "MYH11_000068" "g.15820804_15820806del" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15726947_15726949del" "" "VUS" "" "0000831769" "1" "50" "16" "15820804" "15820806" "del" "0" "00006" "MYH11_000068" "g.15820804_15820806del" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15726947_15726949del" "" "VUS" "" "0000831770" "1" "50" "16" "15814752" "15814752" "subst" "7.30994E-5" "00006" "MYH11_000164" "g.15814752C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.15720895C>T" "" "VUS" "" "0000831771" "1" "50" "16" "15814100" "15814100" "subst" "8.93466E-5" "00006" "MYH11_000160" "g.15814100T>G" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.15720243T>G" "" "VUS" "" "0000831772" "1" "50" "16" "15812221" "15812221" "subst" "0" "00006" "MYH11_000156" "g.15812221T>G" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.15718364T>G" "" "VUS" "" "0000854286" "0" "50" "16" "15808860" "15808860" "subst" "4.06431E-6" "02325" "MYH11_000287" "g.15808860C>T" "" "" "" "MYH11(NM_002474.3):c.5692G>A (p.A1898T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854287" "0" "50" "16" "15809049" "15809049" "subst" "0.000507919" "01943" "MYH11_000149" "g.15809049C>T" "" "" "" "MYH11(NM_001040113.1):c.5606G>A (p.R1869H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854288" "0" "30" "16" "15809105" "15809105" "subst" "0.000532213" "01943" "MYH11_000264" "g.15809105C>T" "" "" "" "MYH11(NM_001040113.1):c.5550G>A (p.S1850=), MYH11(NM_001040113.2):c.5550G>A (p.S1850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854289" "0" "30" "16" "15814807" "15814807" "subst" "6.09122E-5" "01943" "MYH11_000037" "g.15814807G>A" "" "" "" "MYH11(NM_001040113.1):c.4701C>T (p.D1567=), MYH11(NM_002474.3):c.4680C>T (p.D1560=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854290" "0" "30" "16" "15818009" "15818009" "subst" "3.25042E-5" "02326" "MYH11_000049" "g.15818009G>A" "" "" "" "MYH11(NM_001040113.1):c.4386+9C>T, MYH11(NM_001040113.2):c.4386+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854291" "0" "50" "16" "15818776" "15818776" "subst" "0.00012193" "01943" "MYH11_000293" "g.15818776G>A" "" "" "" "MYH11(NM_001040113.1):c.3953C>T (p.A1318V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854292" "0" "30" "16" "15820747" "15820747" "subst" "0.000367179" "02326" "MYH11_000067" "g.15820747C>T" "" "" "" "MYH11(NM_001040113.1):c.3837G>A (p.E1279=), MYH11(NM_001040113.2):c.3837G>A (p.E1279=), MYH11(NM_002474.3):c.3816G>A (p.E1272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854293" "0" "30" "16" "15832563" "15832564" "del" "0" "02329" "MYH11_000081" "g.15832563_15832564del" "" "" "" "MYH11(NM_001040113.2):c.3019-18_3019-17delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854294" "0" "30" "16" "15851679" "15851679" "del" "0" "02326" "MYH11_000198" "g.15851679del" "" "" "" "MYH11(NM_001040113.1):c.1596+8delG, MYH11(NM_001040113.2):c.1596+8delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854295" "0" "30" "16" "15917185" "15917185" "subst" "0.000422308" "02326" "MYH11_000210" "g.15917185C>T" "" "" "" "MYH11(NM_001040113.1):c.429G>A (p.K143=), MYH11(NM_001040113.2):c.429G>A (p.K143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854296" "0" "10" "16" "15917227" "15917227" "subst" "0.00238358" "02326" "MYH11_000128" "g.15917227T>C" "" "" "" "MYH11(NM_001040113.2):c.387A>G (p.K129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864315" "0" "50" "16" "15771722" "15771722" "subst" "0.000268173" "01943" "MYH11_000286" "g.15771722C>T" "" "" "" "NDE1(NM_001143979.1):c.302C>T (p.A101V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864316" "0" "50" "16" "15809060" "15809060" "subst" "1.21853E-5" "01943" "MYH11_000288" "g.15809060C>T" "" "" "" "MYH11(NM_001040113.1):c.5595G>A (p.V1865=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864317" "0" "30" "16" "15812162" "15812162" "subst" "7.43869E-5" "01943" "MYH11_000289" "g.15812162C>T" "" "" "" "MYH11(NM_001040113.1):c.5316+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864318" "0" "30" "16" "15812192" "15812192" "subst" "0.000239083" "01943" "MYH11_000290" "g.15812192C>T" "" "" "" "MYH11(NM_001040113.1):c.5296G>A (p.V1766I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864319" "0" "50" "16" "15812237" "15812248" "del" "0" "01943" "MYH11_000291" "g.15812237_15812248del" "" "" "" "MYH11(NM_001040113.1):c.5255_5266delTGGAGGAGGAGC (p.L1752_E1755del), MYH11(NM_001040113.2):c.5255_5266delTGGAGGAGGAGC (p.L1752_E1755del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864320" "0" "30" "16" "15815260" "15815260" "subst" "0.00104808" "02326" "MYH11_000166" "g.15815260A>G" "" "" "" "MYH11(NM_001040113.2):c.4599+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864321" "0" "10" "16" "15815335" "15815335" "subst" "0.00133593" "02326" "MYH11_000044" "g.15815335T>C" "" "" "" "MYH11(NM_001040113.1):c.4543A>G (p.M1515V), MYH11(NM_001040113.2):c.4543A>G (p.M1515V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864322" "0" "50" "16" "15815347" "15815347" "subst" "3.24855E-5" "01943" "MYH11_000292" "g.15815347G>A" "" "" "" "MYH11(NM_001040113.1):c.4531C>T (p.R1511W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864323" "0" "30" "16" "15818780" "15818780" "subst" "0.000796392" "02326" "MYH11_000062" "g.15818780C>T" "" "" "" "MYH11(NM_001040113.1):c.3949G>A (p.V1317M, p.(Val1317Met)), MYH11(NM_001040113.2):c.3949G>A (p.V1317M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864324" "0" "30" "16" "15841755" "15841755" "subst" "4.06078E-6" "02326" "MYH11_000294" "g.15841755G>A" "" "" "" "MYH11(NM_001040113.2):c.2247C>T (p.D749=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864325" "0" "10" "16" "15851840" "15851840" "subst" "0.00152277" "02326" "MYH11_000106" "g.15851840C>T" "" "" "" "MYH11(NM_001040113.1):c.1440G>A (p.Q480=), MYH11(NM_001040113.2):c.1440G>A (p.Q480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864326" "0" "30" "16" "15876278" "15876278" "subst" "2.43922E-5" "02329" "MYH11_000208" "g.15876278G>A" "" "" "" "MYH11(NM_001040113.1):c.711C>T (p.N237=), MYH11(NM_001040113.2):c.711C>T (p.N237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864327" "0" "30" "16" "15917142" "15917142" "subst" "0.000121836" "01943" "MYH11_000209" "g.15917142C>T" "" "" "" "MYH11(NM_001040113.1):c.472G>A (p.A158T), MYH11(NM_001040113.2):c.472G>A (p.A158T), MYH11(NM_002474.3):c.472G>A (p.A158T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864328" "0" "10" "16" "15917161" "15917161" "subst" "0.000897418" "02326" "MYH11_000126" "g.15917161C>T" "" "" "" "MYH11(NM_001040113.1):c.453G>A (p.P151=), MYH11(NM_001040113.2):c.453G>A (p.P151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892548" "0" "50" "16" "15808776" "15808776" "subst" "4.08173E-6" "02326" "MYH11_000143" "g.15808776T>C" "" "" "" "MYH11(NM_001040113.2):c.5797A>G (p.S1933G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892549" "0" "30" "16" "15811165" "15811165" "subst" "0.000635121" "02326" "MYH11_000026" "g.15811165G>A" "" "" "" "MYH11(NM_001040113.2):c.5357C>T (p.T1786M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892550" "0" "30" "16" "15812190" "15812190" "subst" "9.88802E-5" "02326" "MYH11_000240" "g.15812190G>A" "" "" "" "MYH11(NM_001040113.1):c.5298C>T (p.V1766=), MYH11(NM_001040113.2):c.5298C>T (p.V1766=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892551" "0" "50" "16" "15813145" "15813145" "subst" "1.22398E-5" "02326" "MYH11_000295" "g.15813145C>A" "" "" "" "MYH11(NM_001040113.2):c.5124G>T (p.R1708S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892552" "0" "30" "16" "15814001" "15814001" "subst" "8.14478E-6" "02329" "MYH11_000296" "g.15814001C>A" "" "" "" "MYH11(NM_001040113.2):c.4974+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892553" "0" "50" "16" "15814008" "15814008" "subst" "0" "02329" "MYH11_000297" "g.15814008C>T" "" "" "" "MYH11(NM_001040113.2):c.4974G>A (p.Q1658=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892554" "0" "10" "16" "15814921" "15814921" "subst" "0.00318391" "02326" "MYH11_000041" "g.15814921C>T" "" "" "" "MYH11(NM_001040113.2):c.4600-13G>A, MYH11(NM_002474.3):c.4579-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892555" "0" "10" "16" "15815456" "15815456" "subst" "0.00232688" "02326" "MYH11_000298" "g.15815456G>A" "" "" "" "MYH11(NM_001040113.2):c.4422C>T (p.Y1474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892556" "0" "30" "16" "15818090" "15818090" "subst" "7.71517E-5" "02329" "MYH11_000053" "g.15818090G>A" "" "" "" "MYH11(NM_001040113.1):c.4314C>T (p.D1438=), MYH11(NM_001040113.2):c.4314C>T (p.D1438=), NDE1(NM_001143979.1):c.990G>A (p.R330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892557" "0" "30" "16" "15818180" "15818180" "subst" "0.000207135" "02326" "MYH11_000299" "g.15818180G>A" "" "" "" "MYH11(NM_001040113.2):c.4224C>T (p.I1408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892558" "0" "30" "16" "15818492" "15818492" "subst" "0.00198011" "02326" "MYH11_000300" "g.15818492C>T" "" "" "" "MYH11(NM_001040113.2):c.4137+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892559" "0" "30" "16" "15818798" "15818798" "subst" "0.000300593" "02326" "MYH11_000063" "g.15818798T>G" "" "" "" "MYH11(NM_001040113.1):c.3931A>C (p.I1311L, p.(Ile1311Leu)), MYH11(NM_001040113.2):c.3931A>C (p.I1311L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892560" "0" "10" "16" "15826410" "15826414" "del" "0.000508651" "02326" "MYH11_000301" "g.15826410_15826414del" "" "" "" "MYH11(NM_001040113.2):c.3672+7_3672+11delCTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892561" "0" "10" "16" "15826416" "15826416" "del" "0.000565786" "02326" "MYH11_000302" "g.15826416del" "" "" "" "MYH11(NM_001040113.2):c.3672+5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892562" "0" "70" "16" "15838984" "15838984" "subst" "0" "02327" "MYH11_000303" "g.15838984A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892563" "0" "10" "16" "15839103" "15839103" "subst" "0.00327245" "02326" "MYH11_000089" "g.15839103G>T" "" "" "" "MYH11(NM_001040113.2):c.2433-9C>A, MYH11(NM_002474.3):c.2412-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892564" "0" "30" "16" "15851819" "15851819" "subst" "8.12123E-6" "02326" "MYH11_000200" "g.15851819G>A" "" "" "" "MYH11(NM_001040113.1):c.1461C>T (p.N487=), MYH11(NM_001040113.2):c.1461C>T (p.N487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892565" "0" "30" "16" "15865442" "15865442" "subst" "0.000227413" "02326" "MYH11_000304" "g.15865442G>A" "" "" "" "MYH11(NM_001040113.2):c.1038C>T (p.S346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892566" "0" "30" "16" "15917185" "15917185" "subst" "0.000422308" "02329" "MYH11_000210" "g.15917185C>T" "" "" "" "MYH11(NM_001040113.1):c.429G>A (p.K143=), MYH11(NM_001040113.2):c.429G>A (p.K143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914473" "0" "30" "16" "15809105" "15809105" "subst" "0.000532213" "02326" "MYH11_000264" "g.15809105C>T" "" "" "" "MYH11(NM_001040113.1):c.5550G>A (p.S1850=), MYH11(NM_001040113.2):c.5550G>A (p.S1850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914474" "0" "50" "16" "15812237" "15812248" "del" "0" "02329" "MYH11_000291" "g.15812237_15812248del" "" "" "" "MYH11(NM_001040113.1):c.5255_5266delTGGAGGAGGAGC (p.L1752_E1755del), MYH11(NM_001040113.2):c.5255_5266delTGGAGGAGGAGC (p.L1752_E1755del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914475" "0" "30" "16" "15814922" "15814922" "subst" "0.000105849" "02326" "MYH11_000305" "g.15814922G>A" "" "" "" "MYH11(NM_001040113.2):c.4600-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914476" "0" "30" "16" "15818647" "15818647" "subst" "0.000646594" "02329" "MYH11_000060" "g.15818647G>C" "" "" "" "MYH11(NM_001040113.1):c.3994C>G (p.Q1332E), MYH11(NM_001040113.2):c.3994C>G (p.Q1332E), MYH11(NM_002474.3):c.3973C>G (p.Q1325E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914477" "0" "30" "16" "15829419" "15829419" "subst" "0.00281421" "02326" "MYH11_000075" "g.15829419C>T" "" "" "" "MYH11(NM_001040113.1):c.3331G>A (p.(Ala1111Thr)), MYH11(NM_001040113.2):c.3331G>A (p.A1111T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914478" "0" "30" "16" "15833941" "15833941" "subst" "0" "02329" "MYH11_000306" "g.15833941C>G" "" "" "" "MYH11(NM_001040113.2):c.2985G>C (p.L995=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914479" "0" "30" "16" "15835356" "15835356" "subst" "1.23595E-5" "02326" "MYH11_000084" "g.15835356T>C" "" "" "" "MYH11(NM_001040113.1):c.2844A>G (p.L948=), MYH11(NM_001040113.2):c.2844A>G (p.L948=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914480" "0" "30" "16" "15851747" "15851747" "subst" "0.000186788" "02326" "MYH11_000199" "g.15851747G>A" "" "" "" "MYH11(NM_001040113.1):c.1533C>T (p.I511=), MYH11(NM_001040113.2):c.1533C>T (p.I511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914481" "0" "50" "16" "15853476" "15853476" "subst" "0" "02327" "MYH11_000202" "g.15853476G>C" "" "" "" "MYH11(NM_001040113.2):c.1379C>G (p.S460C), MYH11(NM_002474.2):c.1358C>G (p.(Ser453Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926136" "0" "10" "16" "15808795" "15808795" "subst" "0.000749827" "02326" "MYH11_000214" "g.15808795G>A" "" "" "" "MYH11(NM_001040113.2):c.5778C>T (p.R1926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926137" "0" "50" "16" "15812225" "15812225" "subst" "0" "02325" "MYH11_000307" "g.15812225C>T" "" "" "" "MYH11(NM_002474.3):c.5242G>A (p.E1748K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926138" "0" "50" "16" "15814022" "15814022" "subst" "0" "02329" "MYH11_000308" "g.15814022G>T" "" "" "" "MYH11(NM_001040113.2):c.4960C>A (p.L1654I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926139" "0" "30" "16" "15814692" "15814692" "subst" "0.00194147" "02326" "MYH11_000035" "g.15814692G>A" "" "" "" "MYH11(NM_001040113.2):c.4812+4C>T, MYH11(NM_002474.3):c.4791+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926140" "0" "30" "16" "15818759" "15818759" "subst" "0.00145909" "02326" "MYH11_000309" "g.15818759G>T" "" "" "" "MYH11(NM_001040113.2):c.3970C>A (p.L1324I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926141" "0" "30" "16" "15819019" "15819019" "subst" "0" "02329" "MYH11_000310" "g.15819019C>A" "" "" "" "MYH11(NM_001040113.2):c.3880-170G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926142" "0" "30" "16" "15820618" "15820618" "subst" "0" "02329" "MYH11_000311" "g.15820618G>A" "" "" "" "MYH11(NM_001040113.2):c.3879+87C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926143" "0" "30" "16" "15821016" "15821018" "dup" "0" "02329" "MYH11_000312" "g.15821016_15821018dup" "" "" "" "MYH11(NM_001040113.2):c.3673-107_3673-105dupCTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926144" "0" "50" "16" "15841446" "15841446" "subst" "4.06065E-6" "02325" "MYH11_000313" "g.15841446G>A" "" "" "" "MYH11(NM_002474.3):c.2392C>T (p.R798C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926145" "0" "50" "16" "15876254" "15876254" "subst" "0" "02329" "MYH11_000314" "g.15876254G>C" "" "" "" "MYH11(NM_001040113.2):c.735C>G (p.N245K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926146" "0" "30" "16" "15878457" "15878457" "subst" "0" "02329" "MYH11_000315" "g.15878457C>G" "" "" "" "MYH11(NM_001040113.2):c.654+98G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926147" "0" "30" "16" "15931810" "15931810" "subst" "0.0001665" "02326" "MYH11_000130" "g.15931810G>A" "" "" "" "MYH11(NM_001040113.1):c.300C>T (p.S100=), MYH11(NM_001040113.2):c.300C>T (p.S100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930506" "0" "30" "16" "15809163" "15809163" "subst" "0.000131242" "02329" "MYH11_000316" "g.15809163G>A" "" "" "" "MYH11(NM_001040113.2):c.5526-34C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930507" "0" "50" "16" "15814127" "15814127" "subst" "2.03128E-5" "02329" "MYH11_000317" "g.15814127G>A" "" "" "" "MYH11(NM_001040113.2):c.4855C>T (p.R1619C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930508" "0" "10" "16" "15838971" "15838971" "subst" "0.00255388" "02329" "MYH11_000318" "g.15838971G>C" "" "" "" "MYH11(NM_001040113.2):c.2541+15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930509" "0" "30" "16" "15854693" "15854693" "subst" "0" "02329" "MYH11_000319" "g.15854693C>T" "" "" "" "MYH11(NM_002474.3):c.1130-178G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930510" "0" "30" "16" "15870029" "15870029" "subst" "8.12196E-6" "02329" "MYH11_000320" "g.15870029C>A" "" "" "" "MYH11(NM_002474.3):c.795G>T (p.L265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933670" "11" "90" "16" "15809090" "15809094" "del" "0" "04571" "MYH11_000321" "g.15809090_15809094del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15715233_15715237del" "" "pathogenic (recessive)" "ACMG" "0000950514" "0" "50" "16" "15813131" "15813131" "subst" "4.07601E-6" "02329" "MYH11_000322" "g.15813131G>A" "" "" "" "MYH11(NM_001040113.2):c.5138C>T (p.A1713V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950515" "0" "10" "16" "15815456" "15815456" "subst" "0.00232688" "02329" "MYH11_000298" "g.15815456G>A" "" "" "" "MYH11(NM_001040113.2):c.4422C>T (p.Y1474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950516" "0" "10" "16" "15818492" "15818492" "subst" "0.00198011" "02329" "MYH11_000300" "g.15818492C>T" "" "" "" "MYH11(NM_001040113.2):c.4137+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950517" "0" "10" "16" "15826410" "15826414" "del" "0.000508651" "02329" "MYH11_000301" "g.15826410_15826414del" "" "" "" "MYH11(NM_001040113.2):c.3672+7_3672+11delCTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950518" "0" "10" "16" "15826416" "15826416" "del" "0.000565786" "02329" "MYH11_000302" "g.15826416del" "" "" "" "MYH11(NM_001040113.2):c.3672+5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950519" "0" "50" "16" "15831337" "15831337" "subst" "8.132E-6" "02329" "MYH11_000323" "g.15831337T>C" "" "" "" "MYH11(NM_001040113.2):c.3283A>G (p.K1095E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950520" "0" "30" "16" "15834059" "15834059" "subst" "3.24876E-5" "02326" "MYH11_000083" "g.15834059G>C" "" "" "" "MYH11(NM_001040113.1):c.2881-14C>G, MYH11(NM_001040113.2):c.2881-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950521" "0" "30" "16" "15835526" "15835526" "subst" "0" "02329" "MYH11_000324" "g.15835526G>A" "" "" "" "MYH11(NM_001040113.2):c.2674C>T (p.L892=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950522" "0" "30" "16" "15838971" "15838971" "subst" "0.00255388" "02326" "MYH11_000318" "g.15838971G>C" "" "" "" "MYH11(NM_001040113.2):c.2541+15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950523" "0" "50" "16" "15839080" "15839080" "subst" "4.06379E-6" "02325" "MYH11_000088" "g.15839080C>T" "" "" "" "MYH11(NM_001040113.1):c.2447G>A (p.(Arg816Lys)), MYH11(NM_002474.3):c.2426G>A (p.R809K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950524" "0" "30" "16" "15851663" "15851663" "subst" "0.000257038" "02329" "MYH11_000325" "g.15851663G>A" "" "" "" "MYH11(NM_001040113.2):c.1596+21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950525" "0" "30" "16" "15916796" "15916796" "subst" "0" "02329" "MYH11_000326" "g.15916796T>C" "" "" "" "MYH11(NM_001040113.2):c.502+316A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968106" "0" "30" "16" "15797967" "15797967" "subst" "0.00136856" "02329" "MYH11_000006" "g.15797967T>A" "" "" "" "MYH11(NM_001040113.1):c.*22A>T (p.(=)), MYH11(NM_001040114.1):c.5821A>T (p.T1941S), MYH11(NM_002474.3):c.5800A>T (p.T1934S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968107" "0" "30" "16" "15808876" "15808876" "subst" "0.00502288" "02329" "MYH11_000014" "g.15808876C>G" "" "" "" "MYH11(NM_001040113.1):c.5697G>C (p.E1899D), MYH11(NM_001040113.2):c.5697G>C (p.E1899D), MYH11(NM_002474.3):c.5676G>C (p.E1892D), NDE1(NM_001143979...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968108" "0" "30" "16" "15810812" "15810812" "subst" "0" "02329" "MYH11_000327" "g.15810812A>G" "" "" "" "MYH11(NM_002474.3):c.5504+185T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968109" "0" "30" "16" "15812411" "15812411" "subst" "0" "02329" "MYH11_000328" "g.15812411G>C" "" "" "" "MYH11(NM_002474.3):c.5172-116C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968110" "0" "30" "16" "15814685" "15814685" "subst" "1.22193E-5" "02329" "MYH11_000329" "g.15814685G>C" "" "" "" "MYH11(NM_002474.3):c.4791+11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968111" "0" "70" "16" "15815277" "15815277" "subst" "0" "02329" "MYH11_000330" "g.15815277A>G" "" "" "" "MYH11(NM_002474.3):c.4578+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000968112" "0" "30" "16" "15820374" "15820374" "subst" "0" "02329" "MYH11_000331" "g.15820374C>T" "" "" "" "MYH11(NM_002474.3):c.3858+331G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968113" "0" "30" "16" "15820965" "15820965" "subst" "0" "02329" "MYH11_000332" "g.15820965G>A" "" "" "" "MYH11(NM_002474.3):c.3652-54C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968114" "0" "30" "16" "15826208" "15826208" "subst" "0" "02329" "MYH11_000333" "g.15826208C>G" "" "" "" "MYH11(NM_002474.3):c.3651+213G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968115" "0" "30" "16" "15829201" "15829201" "subst" "8.54965E-5" "02329" "MYH11_000074" "g.15829201G>T" "" "" "" "MYH11(NM_001040113.2):c.3527+22C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968116" "0" "50" "16" "15844058" "15844058" "subst" "4.06194E-6" "02327" "MYH11_000334" "g.15844058C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968117" "0" "50" "16" "15844116" "15844116" "subst" "0" "02327" "MYH11_000335" "g.15844116T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968118" "0" "10" "16" "15852142" "15852142" "subst" "0" "02329" "MYH11_000336" "g.15852142G>A" "" "" "" "MYH11(NM_002474.3):c.1402-285C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000968119" "0" "30" "16" "15880388" "15880388" "subst" "0" "02329" "MYH11_000337" "g.15880388C>T" "" "" "" "MYH11(NM_002474.3):c.633+99G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968120" "0" "50" "16" "15931809" "15931809" "subst" "3.65491E-5" "02326" "MYH11_000129" "g.15931809C>T" "" "" "" "MYH11(NM_001040113.1):c.301G>A (p.V101M), MYH11(NM_001040113.2):c.301G>A (p.V101M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968121" "0" "30" "16" "15931893" "15931893" "subst" "0.000312668" "02329" "MYH11_000132" "g.15931893T>G" "" "" "" "MYH11(NM_001040113.1):c.217A>C (p.(Lys73Gln)), MYH11(NM_001040113.2):c.217A>C (p.K73Q), MYH11(NM_002474.3):c.217A>C (p.K73Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981620" "0" "50" "16" "15761267" "15761267" "subst" "2.43831E-5" "01804" "MYH11_000338" "g.15761267C>T" "" "" "" "NDE1(NM_017668.3):c.208C>T (p.(Arg70Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981621" "0" "30" "16" "15761277" "15761277" "subst" "0" "01804" "MYH11_000339" "g.15761277T>C" "" "" "" "NDE1(NM_017668.3):c.218T>C (p.(Met73Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981622" "0" "30" "16" "15802659" "15802659" "subst" "0.000209021" "01804" "MYH11_000340" "g.15802659C>T" "" "" "" "MYH11(NM_001040113.2):c.*8+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981623" "0" "30" "16" "15802694" "15802694" "dup" "0" "02329" "MYH11_000341" "g.15802694dup" "" "" "" "MYH11(NM_002474.3):c.5787-4707dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981624" "0" "30" "16" "15811188" "15811188" "subst" "9.0976E-5" "02329" "MYH11_000342" "g.15811188G>A" "" "" "" "MYH11(NM_002474.3):c.5313C>T (p.N1771=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981625" "0" "30" "16" "15811209" "15811209" "subst" "0.00596626" "02329" "MYH11_000027" "g.15811209G>A" "" "" "" "MYH11(NM_001040113.1):c.5317-4C>T (p.?), MYH11(NM_001040113.2):c.5317-4C>T, MYH11(NM_002474.3):c.5296-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981626" "0" "50" "16" "15812234" "15812234" "subst" "0" "01804" "MYH11_000029" "g.15812234G>T" "" "" "" "MYH11(NM_001040113.2):c.5254C>A (p.L1752M), MYH11(NM_002474.3):c.5233C>A (p.(Leu1745Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981627" "0" "50" "16" "15814061" "15814061" "subst" "3.65509E-5" "01804" "MYH11_000343" "g.15814061C>T" "" "" "" "MYH11(NM_002474.3):c.4900G>A (p.(Asp1634Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981628" "0" "30" "16" "15814717" "15814717" "subst" "0.0138879" "01804" "MYH11_000036" "g.15814717C>T" "" "" "" "MYH11(NM_001040113.1):c.4791G>A (p.K1597=), MYH11(NM_001040113.2):c.4791G>A (p.K1597=), MYH11(NM_002474.3):c.4770G>A (p.(Lys1590=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981629" "0" "50" "16" "15814796" "15814796" "subst" "0" "01804" "MYH11_000344" "g.15814796C>T" "" "" "" "MYH11(NM_002474.3):c.4691G>A (p.(Arg1564Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981630" "0" "50" "16" "15815454" "15815454" "subst" "4.87314E-5" "02326" "MYH11_000046" "g.15815454G>A" "" "" "" "MYH11(NM_001040113.1):c.4424C>T (p.A1475V), MYH11(NM_001040113.2):c.4424C>T (p.A1475V), MYH11(NM_002474.3):c.4403C>T (p.(Ala1468Val), p.A1468V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981631" "0" "30" "16" "15818356" "15818356" "subst" "0" "02329" "MYH11_000345" "g.15818356G>C" "" "" "" "MYH11(NM_002474.3):c.4117-90C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981632" "0" "50" "16" "15818530" "15818530" "subst" "4.47762E-5" "01804" "MYH11_000346" "g.15818530G>A" "" "" "" "MYH11(NM_002474.3):c.4090C>T (p.(Arg1364Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981633" "0" "50" "16" "15829407" "15829407" "subst" "4.06068E-6" "02329" "MYH11_000347" "g.15829407T>C" "" "" "" "MYH11(NM_002474.3):c.3322A>G (p.N1108D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981634" "0" "30" "16" "15835903" "15835903" "subst" "0" "02329" "MYH11_000348" "g.15835903G>C" "" "" "" "MYH11(NM_002474.3):c.2521-155C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981635" "0" "50" "16" "15841934" "15841934" "subst" "0" "01804" "MYH11_000194" "g.15841934T>C" "" "" "" "MYH11(NM_001040113.1):c.2171A>G (p.N724S), MYH11(NM_002474.3):c.2150A>G (p.(Asn717Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981636" "0" "50" "16" "15841934" "15841934" "subst" "0" "02327" "MYH11_000194" "g.15841934T>C" "" "" "" "MYH11(NM_001040113.1):c.2171A>G (p.N724S), MYH11(NM_002474.3):c.2150A>G (p.(Asn717Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981637" "0" "50" "16" "15844048" "15844048" "subst" "0.000710845" "01804" "MYH11_000096" "g.15844048G>A" "" "" "" "MYH11(NM_001040113.1):c.2026C>T (p.R676C), MYH11(NM_001040113.2):c.2026C>T (p.R676C), MYH11(NM_002474.3):c.2005C>T (p.(Arg669Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981638" "0" "50" "16" "15853518" "15853518" "subst" "3.65467E-5" "01804" "MYH11_000349" "g.15853518C>T" "" "" "" "MYH11(NM_002474.3):c.1316G>A (p.(Arg439His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981639" "0" "30" "16" "15892553" "15892553" "subst" "2.44021E-5" "01804" "MYH11_000124" "g.15892553A>G" "" "" "" "MYH11(NM_001040113.2):c.503-9T>C, MYH11(NM_002474.3):c.503-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981640" "0" "30" "16" "15892553" "15892553" "subst" "2.44021E-5" "02326" "MYH11_000124" "g.15892553A>G" "" "" "" "MYH11(NM_001040113.2):c.503-9T>C, MYH11(NM_002474.3):c.503-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981641" "0" "50" "16" "15917118" "15917118" "subst" "0" "01804" "MYH11_000350" "g.15917118G>T" "" "" "" "MYH11(NM_002474.3):c.496C>A (p.(Leu166Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981642" "0" "30" "16" "15917142" "15917142" "subst" "0.000121836" "02329" "MYH11_000209" "g.15917142C>T" "" "" "" "MYH11(NM_001040113.1):c.472G>A (p.A158T), MYH11(NM_001040113.2):c.472G>A (p.A158T), MYH11(NM_002474.3):c.472G>A (p.A158T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981643" "0" "30" "16" "15917143" "15917143" "subst" "0.000316746" "02329" "MYH11_000234" "g.15917143G>A" "" "" "" "MYH11(NM_001040113.2):c.471C>T (p.I157=), MYH11(NM_002474.3):c.471C>T (p.I157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001912" "0" "30" "16" "15802687" "15802687" "subst" "0.00126718" "01804" "MYH11_000007" "g.15802687G>T" "" "" "" "MYH11(NM_001040113.1):c.5819C>A (p.P1940Q, p.(Pro1940Gln)), MYH11(NM_001040113.2):c.5819C>A (p.P1940Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001913" "0" "50" "16" "15808767" "15808767" "subst" "0" "01804" "MYH11_000351" "g.15808767T>G" "" "" "" "MYH11(NM_002474.2):c.5785A>C (p.(Arg1929=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001914" "0" "30" "16" "15810991" "15810991" "subst" "8.14319E-6" "02329" "MYH11_000352" "g.15810991G>T" "" "" "" "MYH11(NM_002474.3):c.5504+6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001915" "0" "30" "16" "15811389" "15811389" "subst" "0" "02329" "MYH11_000353" "g.15811389C>T" "" "" "" "MYH11(NM_002474.3):c.5296-184G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001916" "0" "30" "16" "15812212" "15812212" "subst" "4.13192E-6" "01804" "MYH11_000354" "g.15812212A>G" "" "" "" "MYH11(NM_002474.2):c.5255T>C (p.(Met1752Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001917" "0" "30" "16" "15812241" "15812241" "subst" "0.000591273" "01804" "MYH11_000030" "g.15812241C>G" "" "" "" "MYH11(NM_001040113.1):c.5247G>C (p.E1749D), MYH11(NM_001040113.2):c.5247G>C (p.E1749D), MYH11(NM_002474.2):c.5226G>C (p.(Glu1742Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001918" "0" "50" "16" "15813120" "15813120" "subst" "3.25529E-5" "01804" "MYH11_000355" "g.15813120T>C" "" "" "" "MYH11(NM_002474.2):c.5128A>G (p.(Lys1710Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001919" "0" "50" "16" "15813472" "15813472" "subst" "1.21821E-5" "01804" "MYH11_000356" "g.15813472G>C" "" "" "" "MYH11(NM_002474.2):c.5052C>G (p.(Ser1684Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001920" "0" "50" "16" "15814135" "15814135" "subst" "4.06289E-5" "01804" "MYH11_000357" "g.15814135C>T" "" "" "" "MYH11(NM_001040114.1):c.4847G>A (p.(Arg1616Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001921" "0" "30" "16" "15815167" "15815167" "subst" "0" "02329" "MYH11_000358" "g.15815167G>A" "" "" "" "MYH11(NM_002474.3):c.4578+112C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001922" "0" "30" "16" "15815282" "15815282" "subst" "0" "02329" "MYH11_000359" "g.15815282C>T" "" "" "" "MYH11(NM_002474.3):c.4575G>A (p.K1525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001923" "0" "50" "16" "15818068" "15818068" "subst" "8.1213E-6" "01804" "MYH11_000169" "g.15818068G>C" "" "" "" "MYH11(NM_001040113.2):c.4336C>G (p.Q1446E), MYH11(NM_002474.2):c.4315C>G (p.(Gln1439Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001924" "0" "30" "16" "15818143" "15818143" "subst" "0.000450747" "02329" "MYH11_000281" "g.15818143C>T" "" "" "" "MYH11(NM_001040113.2):c.4261G>A (p.A1421T), MYH11(NM_002474.3):c.4240G>A (p.A1414T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001925" "0" "50" "16" "15818260" "15818260" "subst" "1.63713E-5" "02329" "MYH11_000171" "g.15818260C>T" "" "" "" "MYH11(NM_001040113.1):c.4144G>A (p.D1382N), MYH11(NM_002474.3):c.4123G>A (p.D1375N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001926" "0" "50" "16" "15826512" "15826512" "subst" "1.21839E-5" "01804" "MYH11_000360" "g.15826512G>A" "" "" "" "MYH11(NM_002474.2):c.3560C>T (p.(Thr1187Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001927" "0" "30" "16" "15832489" "15832489" "subst" "1.21833E-5" "02329" "MYH11_000361" "g.15832489C>T" "" "" "" "MYH11(NM_002474.3):c.3054G>A (p.E1018=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001928" "0" "50" "16" "15835390" "15835390" "subst" "0" "01804" "MYH11_000362" "g.15835390C>T" "" "" "" "MYH11(NM_002474.2):c.2789G>A (p.(Arg930His)), MYH11(NM_002474.3):c.2789G>A (p.R930H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001929" "0" "50" "16" "15839063" "15839063" "subst" "0" "01804" "MYH11_000363" "g.15839063C>A" "" "" "" "MYH11(NM_002474.2):c.2443G>T (p.(Ala815Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001930" "0" "30" "16" "15841287" "15841287" "subst" "0" "02329" "MYH11_000364" "g.15841287C>G" "" "" "" "MYH11(NM_002474.3):c.2411+140G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001931" "0" "30" "16" "15841606" "15841606" "subst" "8.12592E-6" "02329" "MYH11_000365" "g.15841606G>C" "" "" "" "MYH11(NM_002474.3):c.2251-19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001932" "0" "50" "16" "15841765" "15841765" "subst" "4.06072E-6" "01804" "MYH11_000366" "g.15841765C>G" "" "" "" "MYH11(NM_002474.2):c.2216G>C (p.(Gly739Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001933" "0" "50" "16" "15841786" "15841786" "subst" "1.62437E-5" "01804" "MYH11_000193" "g.15841786G>A" "" "" "" "MYH11(NM_001040113.2):c.2216C>T (p.A739V), MYH11(NM_002474.2):c.2195C>T (p.(Ala732Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001934" "0" "50" "16" "15841907" "15841907" "subst" "0" "02329" "MYH11_000367" "g.15841907T>C" "" "" "" "MYH11(NM_002474.3):c.2177A>G (p.Q726R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001935" "0" "50" "16" "15841926" "15841926" "subst" "8.12401E-6" "01804" "MYH11_000368" "g.15841926C>T" "" "" "" "MYH11(NM_001040114.1):c.2179G>A (p.(Val727Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001936" "0" "50" "16" "15842021" "15842021" "subst" "0" "01804" "MYH11_000369" "g.15842021C>T" "" "" "" "MYH11(NM_001040114.1):c.2084G>A (p.(Gly695Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001937" "0" "30" "16" "15844048" "15844048" "subst" "0.000710845" "02326" "MYH11_000096" "g.15844048G>A" "" "" "" "MYH11(NM_001040113.1):c.2026C>T (p.R676C), MYH11(NM_001040113.2):c.2026C>T (p.R676C), MYH11(NM_002474.3):c.2005C>T (p.(Arg669Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001938" "0" "50" "16" "15844072" "15844072" "subst" "8.12427E-6" "02329" "MYH11_000370" "g.15844072G>C" "" "" "" "MYH11(NM_002474.3):c.1981C>G (p.L661V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001939" "0" "30" "16" "15847629" "15847629" "subst" "0" "02329" "MYH11_000371" "g.15847629G>A" "" "" "" "MYH11(NM_002474.3):c.1750-264C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001940" "0" "30" "16" "15850135" "15850135" "subst" "0" "02329" "MYH11_000372" "g.15850135T>C" "" "" "" "MYH11(NM_002474.3):c.1749+63A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001941" "0" "50" "16" "15853476" "15853476" "subst" "0" "01804" "MYH11_000202" "g.15853476G>C" "" "" "" "MYH11(NM_001040113.2):c.1379C>G (p.S460C), MYH11(NM_002474.2):c.1358C>G (p.(Ser453Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001942" "0" "30" "16" "15857760" "15857760" "subst" "0.000349824" "02329" "MYH11_000204" "g.15857760A>C" "" "" "" "MYH11(NM_002474.3):c.1034-12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007460" "0" "70" "16" "15829403" "15829403" "subst" "2.03034E-5" "00006" "MYH11_000373" "g.15829403G>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_002474.3:c.3326C>A" "" "Germline" "" "rs1046453819" "0" "" "" "g.15735546G>T" "" "VUS" "" "0001015297" "0" "30" "16" "15811011" "15811011" "subst" "2.03287E-5" "02329" "MYH11_000374" "g.15811011G>A" "" "" "" "MYH11(NM_002474.3):c.5490C>T (p.V1830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015298" "0" "30" "16" "15815444" "15815444" "subst" "0" "02329" "MYH11_000375" "g.15815444C>T" "" "" "" "MYH11(NM_002474.3):c.4413G>A (p.R1471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015299" "0" "30" "16" "15820747" "15820747" "subst" "0.000367179" "02329" "MYH11_000067" "g.15820747C>T" "" "" "" "MYH11(NM_001040113.1):c.3837G>A (p.E1279=), MYH11(NM_001040113.2):c.3837G>A (p.E1279=), MYH11(NM_002474.3):c.3816G>A (p.E1272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015300" "0" "50" "16" "15831450" "15831450" "subst" "1.62729E-5" "02329" "MYH11_000376" "g.15831450C>T" "" "" "" "MYH11(NM_002474.3):c.3149G>A (p.R1050Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015301" "0" "50" "16" "15835390" "15835390" "subst" "0" "02329" "MYH11_000362" "g.15835390C>T" "" "" "" "MYH11(NM_002474.2):c.2789G>A (p.(Arg930His)), MYH11(NM_002474.3):c.2789G>A (p.R930H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015302" "0" "30" "16" "15847351" "15847351" "subst" "8.12143E-6" "02329" "MYH11_000377" "g.15847351C>G" "" "" "" "MYH11(NM_002474.3):c.1764G>C (p.A588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015303" "0" "50" "16" "15880530" "15880530" "subst" "0" "02329" "MYH11_000378" "g.15880530A>G" "" "" "" "MYH11(NM_002474.3):c.590T>C (p.V197A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001022107" "0" "50" "16" "15851869" "15851869" "subst" "8.12288E-6" "04796" "MYH11_000108" "g.15851869G>C" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.15758012G>C" "" "VUS" "" "0001026566" "0" "50" "16" "15811031" "15811031" "subst" "9.34762E-5" "02326" "MYH11_000379" "g.15811031C>T" "" "" "" "MYH11(NM_001040113.2):c.5491G>A (p.A1831T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026567" "0" "50" "16" "15812198" "15812198" "subst" "3.71342E-5" "02325" "MYH11_000380" "g.15812198C>T" "" "" "" "MYH11(NM_002474.3):c.5269G>A (p.D1757N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026568" "0" "30" "16" "15813154" "15813154" "subst" "0.000163696" "02329" "MYH11_000381" "g.15813154G>A" "" "" "" "MYH11(NM_002474.3):c.5094C>T (p.A1698=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026569" "0" "30" "16" "15814717" "15814717" "subst" "0.0138879" "02329" "MYH11_000036" "g.15814717C>T" "" "" "" "MYH11(NM_001040113.1):c.4791G>A (p.K1597=), MYH11(NM_001040113.2):c.4791G>A (p.K1597=), MYH11(NM_002474.3):c.4770G>A (p.(Lys1590=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026570" "0" "30" "16" "15814914" "15814914" "subst" "9.35865E-5" "02325" "MYH11_000040" "g.15814914G>A" "" "" "" "MYH11(NM_001040113.2):c.4600-6C>T, MYH11(NM_002474.3):c.4579-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026571" "0" "10" "16" "15815351" "15815351" "subst" "0.00272876" "02329" "MYH11_000045" "g.15815351G>A" "" "" "" "MYH11(NM_001040113.1):c.4527C>T (p.L1509=), MYH11(NM_002474.3):c.4506C>T (p.(Leu1502=), p.L1502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026572" "0" "50" "16" "15826469" "15826469" "subst" "2.03054E-5" "02327" "MYH11_000004" "g.15826469G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026573" "0" "50" "16" "15835444" "15835444" "subst" "8.15887E-6" "02327" "MYH11_000382" "g.15835444C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026574" "0" "30" "16" "15843983" "15843983" "subst" "4.09403E-5" "02326" "MYH11_000383" "g.15843983G>A" "" "" "" "MYH11(NM_001040113.2):c.2079+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026575" "0" "30" "16" "15878545" "15878545" "subst" "0.000418675" "02329" "MYH11_000117" "g.15878545A>G" "" "" "" "MYH11(NM_001040113.1):c.654+10T>C, MYH11(NM_001040113.2):c.654+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026576" "0" "30" "16" "15932126" "15932126" "subst" "7.80307E-5" "02326" "MYH11_000384" "g.15932126C>G" "" "" "" "MYH11(NM_001040113.2):c.-17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040806" "0" "30" "16" "15761138" "15761138" "subst" "8.12367E-6" "01804" "MYH11_000385" "g.15761138T>C" "" "" "" "NDE1(NM_017668.3):c.84-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040810" "0" "50" "16" "15797880" "15797880" "subst" "3.24849E-5" "02326" "MYH11_000386" "g.15797880C>T" "" "" "" "MYH11(NM_001040114.1):c.5908G>A (p.A1970T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040811" "0" "30" "16" "15802655" "15802655" "subst" "1.28594E-5" "01804" "MYH11_000387" "g.15802655G>A" "" "" "" "MYH11(NM_001040113.2):c.*8+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040812" "0" "10" "16" "15809117" "15809117" "subst" "0.0341739" "01804" "MYH11_000018" "g.15809117C>T" "" "" "" "MYH11(NM_001040113.2):c.5538G>A (p.A1846=), MYH11(NM_002474.3):c.5517G>A (p.(Ala1839=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040813" "0" "50" "16" "15811130" "15811130" "subst" "2.03366E-5" "01804" "MYH11_000388" "g.15811130C>T" "" "" "" "MYH11(NM_002474.3):c.5371G>A (p.(Glu1791Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040814" "0" "50" "16" "15812269" "15812269" "subst" "0" "02329" "MYH11_000389" "g.15812269C>T" "" "" "" "MYH11(NM_002474.3):c.5198G>A (p.R1733H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040815" "0" "30" "16" "15815351" "15815351" "subst" "0.00272876" "01804" "MYH11_000045" "g.15815351G>A" "" "" "" "MYH11(NM_001040113.1):c.4527C>T (p.L1509=), MYH11(NM_002474.3):c.4506C>T (p.(Leu1502=), p.L1502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040816" "0" "50" "16" "15815454" "15815454" "subst" "4.87314E-5" "01804" "MYH11_000046" "g.15815454G>A" "" "" "" "MYH11(NM_001040113.1):c.4424C>T (p.A1475V), MYH11(NM_001040113.2):c.4424C>T (p.A1475V), MYH11(NM_002474.3):c.4403C>T (p.(Ala1468Val), p.A1468V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040817" "0" "30" "16" "15818225" "15818225" "subst" "0.00886554" "01804" "MYH11_000056" "g.15818225G>A" "" "" "" "MYH11(NM_001040113.1):c.4179C>T (p.T1393=), MYH11(NM_001040113.2):c.4179C>T (p.T1393=), MYH11(NM_002474.3):c.4158C>T (p.(Thr1386=), p.T1386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040818" "0" "50" "16" "15818515" "15818515" "subst" "0" "02326" "MYH11_000390" "g.15818515G>A" "" "" "" "MYH11(NM_001040113.2):c.4126C>T (p.L1376F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040819" "0" "10" "16" "15818653" "15818653" "subst" "0.0351763" "01804" "MYH11_000061" "g.15818653G>A" "" "" "" "MYH11(NM_001040113.2):c.3988C>T (p.L1330=), MYH11(NM_002474.3):c.3967C>T (p.(Leu1323=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040820" "0" "50" "16" "15826542" "15826542" "subst" "1.21864E-5" "01804" "MYH11_000391" "g.15826542G>A" "" "" "" "MYH11(NM_002474.3):c.3530C>T (p.(Thr1177Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040821" "0" "30" "16" "15839103" "15839103" "subst" "0.00327245" "01804" "MYH11_000089" "g.15839103G>T" "" "" "" "MYH11(NM_001040113.2):c.2433-9C>A, MYH11(NM_002474.3):c.2412-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040822" "0" "50" "16" "15844129" "15844129" "subst" "1.22311E-5" "01804" "MYH11_000392" "g.15844129C>T" "" "" "" "MYH11(NM_002474.3):c.1924G>A (p.(Ala642Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040823" "0" "50" "16" "15847280" "15847280" "subst" "0" "01804" "MYH11_000393" "g.15847280T>G" "" "" "" "MYH11(NM_002474.3):c.1835A>C (p.(Asp612Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040824" "0" "50" "16" "15847281" "15847281" "subst" "0" "01804" "MYH11_000394" "g.15847281C>A" "" "" "" "MYH11(NM_002474.3):c.1834G>T (p.(Asp612Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040825" "0" "30" "16" "15931975" "15931975" "subst" "0.0121589" "01804" "MYH11_000133" "g.15931975G>A" "" "" "" "MYH11(NM_001040113.2):c.135C>T (p.F45=), MYH11(NM_002474.3):c.135C>T (p.(Phe45=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040826" "0" "50" "16" "15932105" "15932105" "subst" "1.64037E-5" "01804" "MYH11_000395" "g.15932105G>A" "" "" "" "MYH11(NM_002474.3):c.5C>T (p.(Ala2Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044589" "0" "50" "16" "15812194" "15812194" "subst" "0.000156647" "03779" "MYH11_000155" "g.15812194C>T" "" "" "" "" "" "Unknown" "" "rs142546324" "0" "" "" "" "" "VUS" "" "0001047056" "0" "50" "16" "15931970" "15931970" "subst" "0" "03779" "MYH11_000396" "g.15931970G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MYH11 ## Count = 1279 "{{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}}" "0000013530" "00025856" "50" "503" "-1785" "503" "-1785" "c.503-1785T>C" "r.(=)" "p.(=)" "" "0000013530" "00000656" "50" "503" "-1785" "503" "-1785" "c.503-1785T>C" "r.(=)" "p.(=)" "" "0000079435" "00025856" "90" "-437680" "0" "309063" "0" "c.-437680_*303144del" "r.0?" "p.0?" "" "0000079435" "00000656" "00" "-437680" "0" "309123" "0" "c.-437680_*303285del" "r.?" "p.?" "" "0000079471" "00025856" "90" "-610371" "0" "998386" "0" "c.-610371_*992467dup" "r.0?" "p.0?" "" "0000079471" "00000656" "00" "-610371" "0" "998446" "0" "c.-610371_*992608dup" "r.?" "p.?" "" "0000096965" "00000656" "50" "3624" "0" "3624" "0" "c.3624C>G" "r.(?)" "p.(His1208Gln)" "28" "0000249203" "00025856" "10" "4242" "0" "4242" "0" "c.4242T>G" "r.(?)" "p.(Ala1414=)" "" "0000249203" "00000656" "10" "4263" "0" "4263" "0" "c.4263T>G" "r.(?)" "p.(Ala1421=)" "" "0000249569" "00025856" "30" "45034" "0" "45034" "0" "c.*39115T>G" "r.(=)" "p.(=)" "" "0000249569" "00000656" "30" "45094" "0" "45094" "0" "c.*39256T>G" "r.(=)" "p.(=)" "" "0000250003" "00025856" "10" "792" "0" "792" "0" "c.792T>C" "r.(?)" "p.(Tyr264=)" "" "0000250003" "00000656" "10" "813" "0" "813" "0" "c.813T>C" "r.(?)" "p.(Tyr271=)" "" "0000250007" "00025856" "10" "3866" "0" "3866" "0" "c.3866T>C" "r.(?)" "p.(Val1289Ala)" "" "0000250007" "00000656" "10" "3887" "0" "3887" "0" "c.3887T>C" "r.(?)" "p.(Val1296Ala)" "" "0000250047" "00025856" "10" "4242" "0" "4242" "0" "c.4242T>G" "r.(?)" "p.(Ala1414=)" "" "0000250047" "00000656" "10" "4263" "0" "4263" "0" "c.4263T>G" "r.(?)" "p.(Ala1421=)" "" "0000250126" "00025856" "10" "1743" "0" "1743" "0" "c.1743T>C" "r.(?)" "p.(Ala581=)" "" "0000250126" "00000656" "10" "1764" "0" "1764" "0" "c.1764T>C" "r.(?)" "p.(Ala588=)" "" "0000250318" "00025856" "30" "1743" "0" "1743" "0" "c.1743T>G" "r.(?)" "p.(Ala581=)" "" "0000250318" "00000656" "30" "1764" "0" "1764" "0" "c.1764T>G" "r.(?)" "p.(Ala588=)" "" "0000250476" "00025856" "30" "503" "-9" "503" "-9" "c.503-9T>C" "r.(=)" "p.(=)" "" "0000250476" "00000656" "30" "503" "-9" "503" "-9" "c.503-9T>C" "r.(=)" "p.(=)" "" "0000250820" "00025856" "30" "633" "1942" "633" "1942" "c.633+1942T>C" "r.(=)" "p.(=)" "" "0000250820" "00000656" "30" "654" "10" "654" "10" "c.654+10T>C" "r.(=)" "p.(=)" "" "0000250863" "00025856" "10" "792" "0" "792" "0" "c.792T>C" "r.(?)" "p.(Tyr264=)" "" "0000250863" "00000656" "10" "813" "0" "813" "0" "c.813T>C" "r.(?)" "p.(Tyr271=)" "" "0000250867" "00025856" "10" "3866" "0" "3866" "0" "c.3866T>C" "r.(?)" "p.(Val1289Ala)" "" "0000250867" "00000656" "10" "3887" "0" "3887" "0" "c.3887T>C" "r.(?)" "p.(Val1296Ala)" "" "0000254039" "00025856" "30" "633" "1942" "633" "1942" "c.633+1942T>C" "r.(=)" "p.(=)" "" "0000254039" "00000656" "30" "654" "10" "654" "10" "c.654+10T>C" "r.(=)" "p.(=)" "" "0000254635" "00025856" "30" "3031" "0" "3031" "0" "c.3031T>C" "r.(?)" "p.(Leu1011=)" "" "0000254635" "00000656" "30" "3052" "0" "3052" "0" "c.3052T>C" "r.(?)" "p.(Leu1018=)" "" "0000254963" "00025856" "30" "3102" "0" "3102" "0" "c.3102T>C" "r.(?)" "p.(Ser1034=)" "" "0000254963" "00000656" "30" "3123" "0" "3123" "0" "c.3123T>C" "r.(?)" "p.(Ser1041=)" "" "0000256305" "00025856" "50" "5750" "0" "5750" "0" "c.5750T>C" "r.(?)" "p.(Met1917Thr)" "" "0000256305" "00000656" "50" "5771" "0" "5771" "0" "c.5771T>C" "r.(?)" "p.(Met1924Thr)" "" "0000256373" "00025856" "50" "15685" "0" "15685" "0" "c.*9766T>C" "r.(=)" "p.(=)" "" "0000256373" "00000656" "50" "15745" "0" "15745" "0" "c.*9907T>C" "r.(=)" "p.(=)" "" "0000283762" "00025856" "10" "987" "0" "987" "0" "c.987C>T" "r.(?)" "p.(Thr329=)" "" "0000283762" "00000656" "10" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Thr336=)" "" "0000283763" "00025856" "50" "1112" "0" "1112" "0" "c.1112C>A" "r.(?)" "p.(Ser371Tyr)" "" "0000283763" "00000656" "50" "1133" "0" "1133" "0" "c.1133C>A" "r.(?)" "p.(Ser378Tyr)" "" "0000283764" "00025856" "10" "1249" "-11" "1249" "-11" "c.1249-11G>C" "r.(=)" "p.(=)" "" "0000283764" "00000656" "10" "1270" "-11" "1270" "-11" "c.1270-11G>C" "r.(=)" "p.(=)" "" "0000283765" "00025856" "30" "12" "0" "12" "0" "c.12G>A" "r.(?)" "p.(Lys4=)" "" "0000283765" "00000656" "30" "12" "0" "12" "0" "c.12G>A" "r.(?)" "p.(Lys4=)" "" "0000283766" "00025856" "10" "135" "0" "135" "0" "c.135C>T" "r.(?)" "p.(Phe45=)" "" "0000283766" "00000656" "10" "135" "0" "135" "0" "c.135C>T" "r.(?)" "p.(Phe45=)" "" "0000283767" "00025856" "30" "1413" "0" "1413" "0" "c.1413C>T" "r.(?)" "p.(Phe471=)" "" "0000283767" "00000656" "30" "1434" "0" "1434" "0" "c.1434C>T" "r.(?)" "p.(Phe478=)" "" "0000283768" "00025856" "10" "1419" "0" "1419" "0" "c.1419G>A" "r.(?)" "p.(Gln473=)" "" "0000283768" "00000656" "10" "1440" "0" "1440" "0" "c.1440G>A" "r.(?)" "p.(Gln480=)" "" "0000283769" "00025856" "30" "1569" "0" "1569" "0" "c.1569G>A" "r.(?)" "p.(Glu523=)" "" "0000283769" "00000656" "30" "1590" "0" "1590" "0" "c.1590G>A" "r.(?)" "p.(Glu530=)" "" "0000283770" "00025856" "30" "2005" "0" "2005" "0" "c.2005C>T" "r.(?)" "p.(Arg669Cys)" "" "0000283770" "00000656" "30" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Arg676Cys)" "" "0000283771" "00025856" "30" "2049" "0" "2049" "0" "c.2049C>T" "r.(?)" "p.(His683=)" "" "0000283771" "00000656" "30" "2070" "0" "2070" "0" "c.2070C>T" "r.(?)" "p.(His690=)" "" "0000283772" "00025856" "10" "2061" "0" "2061" "0" "c.2061C>T" "r.(?)" "p.(Ser687=)" "" "0000283772" "00000656" "10" "2082" "0" "2082" "0" "c.2082C>T" "r.(?)" "p.(Ser694=)" "" "0000283773" "00025856" "10" "2079" "0" "2079" "0" "c.2079C>T" "r.(?)" "p.(Phe693=)" "" "0000283773" "00000656" "10" "2100" "0" "2100" "0" "c.2100C>T" "r.(?)" "p.(Phe700=)" "" "0000283774" "00025856" "10" "2208" "0" "2208" "0" "c.2208C>T" "r.(?)" "p.(Ile736=)" "" "0000283774" "00000656" "10" "2229" "0" "2229" "0" "c.2229C>T" "r.(?)" "p.(Ile743=)" "" "0000283775" "00025856" "30" "2385" "0" "2385" "0" "c.2385G>A" "r.(?)" "p.(Ala795=)" "" "0000283775" "00000656" "30" "2406" "0" "2406" "0" "c.2406G>A" "r.(?)" "p.(Ala802=)" "" "0000283776" "00025856" "10" "2412" "-9" "2412" "-9" "c.2412-9C>A" "r.(=)" "p.(=)" "" "0000283776" "00000656" "10" "2433" "-9" "2433" "-9" "c.2433-9C>A" "r.(=)" "p.(=)" "" "0000283777" "00025856" "10" "2472" "0" "2472" "0" "c.2472C>T" "r.(?)" "p.(Ala824=)" "" "0000283777" "00000656" "10" "2493" "0" "2493" "0" "c.2493C>T" "r.(?)" "p.(Ala831=)" "" "0000283778" "00025856" "30" "2520" "17" "2520" "17" "c.2520+17A>G" "r.(=)" "p.(=)" "" "0000283778" "00000656" "30" "2541" "17" "2541" "17" "c.2541+17A>G" "r.(=)" "p.(=)" "" "0000283779" "00025856" "30" "2802" "0" "2802" "0" "c.2802G>A" "r.(?)" "p.(Glu934=)" "" "0000283779" "00000656" "30" "2823" "0" "2823" "0" "c.2823G>A" "r.(?)" "p.(Glu941=)" "" "0000283780" "00025856" "30" "2893" "0" "2893" "0" "c.2893G>T" "r.(?)" "p.(Ala965Ser)" "" "0000283780" "00000656" "30" "2914" "0" "2914" "0" "c.2914G>T" "r.(?)" "p.(Ala972Ser)" "" "0000283781" "00025856" "30" "300" "0" "300" "0" "c.300C>T" "r.(?)" "p.(Ser100=)" "" "0000283781" "00000656" "30" "300" "0" "300" "0" "c.300C>T" "r.(?)" "p.(Ser100=)" "" "0000283782" "00025856" "10" "3310" "0" "3310" "0" "c.3310G>A" "r.(?)" "p.(Ala1104Thr)" "" "0000283782" "00000656" "10" "3331" "0" "3331" "0" "c.3331G>A" "r.(?)" "p.(Ala1111Thr)" "" "0000283783" "00025856" "10" "3700" "0" "3700" "0" "c.3700G>A" "r.(?)" "p.(Ala1234Thr)" "" "0000283783" "00000656" "10" "3721" "0" "3721" "0" "c.3721G>A" "r.(?)" "p.(Ala1241Thr)" "" "0000283784" "00025856" "30" "3858" "16" "3858" "16" "c.3858+16G>A" "r.(=)" "p.(=)" "" "0000283784" "00000656" "30" "3879" "16" "3879" "16" "c.3879+16G>A" "r.(=)" "p.(=)" "" "0000283785" "00025856" "30" "3858" "16" "3858" "16" "c.3858+16G>C" "r.(=)" "p.(=)" "" "0000283785" "00000656" "30" "3879" "16" "3879" "16" "c.3879+16G>C" "r.(=)" "p.(=)" "" "0000283786" "00025856" "10" "387" "0" "387" "0" "c.387A>G" "r.(?)" "p.(Lys129=)" "" "0000283786" "00000656" "10" "387" "0" "387" "0" "c.387A>G" "r.(?)" "p.(Lys129=)" "" "0000283787" "00025856" "10" "3928" "0" "3928" "0" "c.3928G>A" "r.(?)" "p.(Val1310Met)" "" "0000283787" "00000656" "10" "3949" "0" "3949" "0" "c.3949G>A" "r.(?)" "p.(Val1317Met)" "" "0000283788" "00025856" "10" "3967" "0" "3967" "0" "c.3967C>T" "r.(?)" "p.(Leu1323=)" "" "0000283788" "00000656" "10" "3988" "0" "3988" "0" "c.3988C>T" "r.(?)" "p.(Leu1330=)" "" "0000283789" "00025856" "30" "4095" "0" "4095" "0" "c.4095C>T" "r.(?)" "p.(His1365=)" "" "0000283789" "00000656" "30" "4116" "0" "4116" "0" "c.4116C>T" "r.(?)" "p.(His1372=)" "" "0000283790" "00025856" "30" "4116" "11" "4116" "11" "c.4116+11del" "r.(=)" "p.(=)" "" "0000283790" "00000656" "30" "4137" "11" "4137" "11" "c.4137+11del" "r.(=)" "p.(=)" "" "0000283791" "00025856" "10" "4158" "0" "4158" "0" "c.4158C>T" "r.(?)" "p.(Thr1386=)" "" "0000283791" "00000656" "10" "4179" "0" "4179" "0" "c.4179C>T" "r.(?)" "p.(Thr1393=)" "" "0000283792" "00025856" "10" "417" "0" "417" "0" "c.417C>T" "r.(?)" "p.(Val139=)" "" "0000283792" "00000656" "10" "417" "0" "417" "0" "c.417C>T" "r.(?)" "p.(Val139=)" "" "0000283793" "00025856" "30" "4197" "0" "4197" "0" "c.4197G>A" "r.(?)" "p.(Lys1399=)" "" "0000283793" "00000656" "30" "4218" "0" "4218" "0" "c.4218G>A" "r.(?)" "p.(Lys1406=)" "" "0000283794" "00025856" "30" "4365" "10" "4365" "10" "c.4365+10G>A" "r.(=)" "p.(=)" "" "0000283794" "00000656" "30" "4386" "10" "4386" "10" "c.4386+10G>A" "r.(=)" "p.(=)" "" "0000283795" "00025856" "50" "4403" "0" "4403" "0" "c.4403C>T" "r.(?)" "p.(Ala1468Val)" "" "0000283795" "00000656" "50" "4424" "0" "4424" "0" "c.4424C>T" "r.(?)" "p.(Ala1475Val)" "" "0000283796" "00025856" "10" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Pro151=)" "" "0000283796" "00000656" "10" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Pro151=)" "" "0000283797" "00025856" "10" "4522" "0" "4522" "0" "c.4522A>G" "r.(?)" "p.(Met1508Val)" "" "0000283797" "00000656" "10" "4543" "0" "4543" "0" "c.4543A>G" "r.(?)" "p.(Met1515Val)" "" "0000283798" "00025856" "30" "4533" "0" "4533" "0" "c.4533C>T" "r.(?)" "p.(Ala1511=)" "" "0000283798" "00000656" "30" "4554" "0" "4554" "0" "c.4554C>T" "r.(?)" "p.(Ala1518=)" "" "0000283799" "00025856" "30" "4578" "3" "4578" "3" "c.4578+3A>G" "r.spl?" "p.?" "" "0000283799" "00000656" "30" "4599" "3" "4599" "3" "c.4599+3A>G" "r.spl?" "p.?" "" "0000283800" "00025856" "10" "4579" "-13" "4579" "-13" "c.4579-13G>A" "r.(=)" "p.(=)" "" "0000283800" "00000656" "10" "4600" "-13" "4600" "-13" "c.4600-13G>A" "r.(=)" "p.(=)" "" "0000283801" "00025856" "30" "4663" "0" "4663" "0" "c.4663C>T" "r.(?)" "p.(Leu1555=)" "" "0000283801" "00000656" "30" "4684" "0" "4684" "0" "c.4684C>T" "r.(?)" "p.(Leu1562=)" "" "0000283802" "00025856" "30" "4680" "0" "4680" "0" "c.4680C>T" "r.(?)" "p.(Asp1560=)" "" "0000283802" "00000656" "30" "4701" "0" "4701" "0" "c.4701C>T" "r.(?)" "p.(Asp1567=)" "" "0000283803" "00025856" "10" "4791" "4" "4791" "4" "c.4791+4C>T" "r.spl?" "p.?" "" "0000283803" "00000656" "10" "4812" "4" "4812" "4" "c.4812+4C>T" "r.spl?" "p.?" "" "0000283804" "00025856" "10" "503" "-14" "503" "-12" "c.503-14_503-12del" "r.(=)" "p.(=)" "" "0000283804" "00000656" "10" "503" "-14" "503" "-12" "c.503-14_503-12del" "r.(=)" "p.(=)" "" "0000283805" "00025856" "10" "5172" "-14" "5172" "-14" "c.5172-14C>T" "r.(=)" "p.(=)" "" "0000283805" "00000656" "10" "5193" "-14" "5193" "-14" "c.5193-14C>T" "r.(=)" "p.(=)" "" "0000283806" "00025856" "10" "5172" "-5" "5172" "-5" "c.5172-5C>T" "r.spl?" "p.?" "" "0000283806" "00000656" "10" "5193" "-5" "5193" "-5" "c.5193-5C>T" "r.spl?" "p.?" "" "0000283807" "00025856" "50" "5272" "0" "5272" "0" "c.5272C>T" "r.(?)" "p.(Arg1758Trp)" "" "0000283807" "00000656" "50" "5293" "0" "5293" "0" "c.5293C>T" "r.(?)" "p.(Arg1765Trp)" "" "0000283808" "00025856" "30" "530" "20" "530" "20" "c.530+20C>T" "r.(=)" "p.(=)" "" "0000283808" "00000656" "30" "530" "20" "530" "20" "c.530+20C>T" "r.(=)" "p.(=)" "" "0000283809" "00025856" "30" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Gly178=)" "" "0000283809" "00000656" "30" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Gly178=)" "" "0000283810" "00025856" "30" "5336" "0" "5336" "0" "c.5336C>T" "r.(?)" "p.(Thr1779Met)" "" "0000283810" "00000656" "30" "5357" "0" "5357" "0" "c.5357C>T" "r.(?)" "p.(Thr1786Met)" "" "0000283811" "00025856" "10" "5370" "0" "5370" "0" "c.5370C>T" "r.(?)" "p.(Leu1790=)" "" "0000283811" "00000656" "10" "5391" "0" "5391" "0" "c.5391C>T" "r.(?)" "p.(Leu1797=)" "" "0000283812" "00025856" "10" "5439" "0" "5439" "0" "c.5439G>A" "r.(?)" "p.(Lys1813=)" "" "0000283812" "00000656" "10" "5460" "0" "5460" "0" "c.5460G>A" "r.(?)" "p.(Lys1820=)" "" "0000283813" "00025856" "10" "5478" "0" "5478" "0" "c.5478G>A" "r.(?)" "p.(Leu1826=)" "" "0000283813" "00000656" "10" "5499" "0" "5499" "0" "c.5499G>A" "r.(?)" "p.(Leu1833=)" "" "0000283814" "00025856" "30" "5504" "7" "5504" "7" "c.5504+7G>T" "r.(=)" "p.(=)" "" "0000283814" "00000656" "30" "5525" "7" "5525" "7" "c.5525+7G>T" "r.(=)" "p.(=)" "" "0000283815" "00025856" "10" "5517" "0" "5517" "0" "c.5517G>A" "r.(?)" "p.(Ala1839=)" "" "0000283815" "00000656" "10" "5538" "0" "5538" "0" "c.5538G>A" "r.(?)" "p.(Ala1846=)" "" "0000283816" "00025856" "30" "5566" "0" "5566" "0" "c.5566C>T" "r.(?)" "p.(Leu1856=)" "" "0000283816" "00000656" "30" "5587" "0" "5587" "0" "c.5587C>T" "r.(?)" "p.(Leu1863=)" "" "0000283817" "00025856" "30" "5614" "-7" "5614" "-7" "c.5614-7G>A" "r.(=)" "p.(=)" "" "0000283817" "00000656" "30" "5635" "-7" "5635" "-7" "c.5635-7G>A" "r.(=)" "p.(=)" "" "0000283818" "00025856" "30" "5786" "11" "5786" "11" "c.5786+11C>T" "r.(=)" "p.(=)" "" "0000283818" "00000656" "30" "5807" "11" "5807" "11" "c.5807+11C>T" "r.(=)" "p.(=)" "" "0000283819" "00025856" "30" "5787" "-4707" "5787" "-4707" "c.5787-4707C>A" "r.(=)" "p.(=)" "" "0000283819" "00000656" "30" "5819" "0" "5819" "0" "c.5819C>A" "r.(?)" "p.(Pro1940Gln)" "" "0000283820" "00025856" "30" "5787" "-4707" "5787" "-4707" "c.5787-4707C>G" "r.(=)" "p.(=)" "" "0000283820" "00000656" "30" "5819" "0" "5819" "0" "c.5819C>G" "r.(?)" "p.(Pro1940Arg)" "" "0000283821" "00025856" "30" "585" "0" "585" "0" "c.585G>A" "r.(?)" "p.(Leu195=)" "" "0000283821" "00000656" "30" "585" "0" "585" "0" "c.585G>A" "r.(?)" "p.(Leu195=)" "" "0000283822" "00025856" "30" "633" "1900" "633" "1900" "c.633+1900G>A" "r.(=)" "p.(=)" "" "0000283822" "00000656" "30" "634" "-12" "634" "-12" "c.634-12G>A" "r.(=)" "p.(=)" "" "0000286935" "00025856" "50" "1402" "-12" "1402" "-12" "c.1402-12C>G" "r.(=)" "p.(=)" "" "0000286935" "00000656" "50" "1423" "-12" "1423" "-12" "c.1423-12C>G" "r.(=)" "p.(=)" "" "0000286936" "00025856" "30" "1732" "0" "1732" "0" "c.1732A>G" "r.(?)" "p.(Ile578Val)" "" "0000286936" "00000656" "30" "1753" "0" "1753" "0" "c.1753A>G" "r.(?)" "p.(Ile585Val)" "" "0000286937" "00025856" "30" "217" "0" "217" "0" "c.217A>C" "r.(?)" "p.(Lys73Gln)" "" "0000286937" "00000656" "30" "217" "0" "217" "0" "c.217A>C" "r.(?)" "p.(Lys73Gln)" "" "0000286938" "00025856" "10" "2520" "17" "2520" "17" "c.2520+17A>G" "r.(=)" "p.(=)" "" "0000286938" "00000656" "10" "2541" "17" "2541" "17" "c.2541+17A>G" "r.(=)" "p.(=)" "" "0000286939" "00025856" "30" "2893" "0" "2893" "0" "c.2893G>T" "r.(?)" "p.(Ala965Ser)" "" "0000286939" "00000656" "30" "2914" "0" "2914" "0" "c.2914G>T" "r.(?)" "p.(Ala972Ser)" "" "0000286940" "00025856" "30" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Asn97=)" "" "0000286940" "00000656" "30" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Asn97=)" "" "0000286941" "00025856" "30" "2998" "-18" "2998" "-17" "c.2998-18_2998-17del" "r.(=)" "p.(=)" "" "0000286941" "00000656" "30" "3019" "-18" "3019" "-17" "c.3019-18_3019-17del" "r.(=)" "p.(=)" "" "0000286942" "00025856" "30" "3506" "22" "3506" "22" "c.3506+22C>A" "r.(=)" "p.(=)" "" "0000286942" "00000656" "30" "3527" "22" "3527" "22" "c.3527+22C>A" "r.(=)" "p.(=)" "" "0000286943" "00025856" "50" "3766" "0" "3766" "0" "c.3766A>C" "r.(?)" "p.(Lys1256Gln)" "" "0000286943" "00000656" "50" "3787" "0" "3787" "0" "c.3787A>C" "r.(?)" "p.(Lys1263Gln)" "" "0000286944" "00025856" "30" "3973" "0" "3973" "0" "c.3973C>G" "r.(?)" "p.(Gln1325Glu)" "" "0000286944" "00000656" "30" "3994" "0" "3994" "0" "c.3994C>G" "r.(?)" "p.(Gln1332Glu)" "" "0000286945" "00025856" "10" "4158" "0" "4158" "0" "c.4158C>T" "r.(?)" "p.(Thr1386=)" "" "0000286945" "00000656" "10" "4179" "0" "4179" "0" "c.4179C>T" "r.(?)" "p.(Thr1393=)" "" "0000286946" "00025856" "30" "4365" "27" "4365" "27" "c.4365+27C>G" "r.(=)" "p.(=)" "" "0000286946" "00000656" "30" "4386" "27" "4386" "27" "c.4386+27C>G" "r.(=)" "p.(=)" "" "0000286947" "00025856" "30" "4578" "3" "4578" "3" "c.4578+3A>G" "r.spl?" "p.?" "" "0000286947" "00000656" "30" "4599" "3" "4599" "3" "c.4599+3A>G" "r.spl?" "p.?" "" "0000286948" "00025856" "30" "4579" "-6" "4579" "-6" "c.4579-6C>T" "r.(=)" "p.(=)" "" "0000286948" "00000656" "30" "4600" "-6" "4600" "-6" "c.4600-6C>T" "r.(=)" "p.(=)" "" "0000286949" "00025856" "10" "4770" "0" "4770" "0" "c.4770G>A" "r.(?)" "p.(Lys1590=)" "" "0000286949" "00000656" "10" "4791" "0" "4791" "0" "c.4791G>A" "r.(?)" "p.(Lys1597=)" "" "0000286950" "00025856" "10" "503" "-14" "503" "-12" "c.503-14_503-12del" "r.(=)" "p.(=)" "" "0000286950" "00000656" "10" "503" "-14" "503" "-12" "c.503-14_503-12del" "r.(=)" "p.(=)" "" "0000286951" "00025856" "10" "5172" "-14" "5172" "-14" "c.5172-14C>T" "r.(=)" "p.(=)" "" "0000286951" "00000656" "10" "5193" "-14" "5193" "-14" "c.5193-14C>T" "r.(=)" "p.(=)" "" "0000286952" "00025856" "30" "5176" "0" "5176" "0" "c.5176G>A" "r.(?)" "p.(Ala1726Thr)" "" "0000286952" "00000656" "30" "5197" "0" "5197" "0" "c.5197G>A" "r.(?)" "p.(Ala1733Thr)" "" "0000286953" "00025856" "50" "5233" "0" "5233" "0" "c.5233C>A" "r.(?)" "p.(Leu1745Met)" "" "0000286953" "00000656" "50" "5254" "0" "5254" "0" "c.5254C>A" "r.(?)" "p.(Leu1752Met)" "" "0000286954" "00025856" "10" "531" "-208" "531" "-208" "c.531-208G>T" "r.(=)" "p.(=)" "" "0000286954" "00000656" "10" "531" "-208" "531" "-208" "c.531-208G>T" "r.(=)" "p.(=)" "" "0000286955" "00025856" "30" "5296" "-4" "5296" "-4" "c.5296-4C>T" "r.spl?" "p.?" "" "0000286955" "00000656" "30" "5317" "-4" "5317" "-4" "c.5317-4C>T" "r.spl?" "p.?" "" "0000286956" "00025856" "30" "5504" "7" "5504" "7" "c.5504+7G>T" "r.(=)" "p.(=)" "" "0000286956" "00000656" "30" "5525" "7" "5525" "7" "c.5525+7G>T" "r.(=)" "p.(=)" "" "0000286957" "00025856" "30" "5614" "-8" "5614" "-8" "c.5614-8C>T" "r.(=)" "p.(=)" "" "0000286957" "00000656" "30" "5635" "-8" "5635" "-8" "c.5635-8C>T" "r.(=)" "p.(=)" "" "0000286958" "00025856" "10" "5676" "0" "5676" "0" "c.5676G>C" "r.(?)" "p.(Glu1892Asp)" "" "0000286958" "00000656" "10" "5697" "0" "5697" "0" "c.5697G>C" "r.(?)" "p.(Glu1899Asp)" "" "0000286959" "00025856" "30" "5800" "0" "5800" "0" "c.5800A>T" "r.(?)" "p.(Thr1934Ser)" "" "0000286959" "00000656" "30" "5860" "0" "5860" "0" "c.*22A>T" "r.(=)" "p.(=)" "" "0000286960" "00025856" "30" "633" "1900" "633" "1900" "c.633+1900G>A" "r.(=)" "p.(=)" "" "0000286960" "00000656" "30" "634" "-12" "634" "-12" "c.634-12G>A" "r.(=)" "p.(=)" "" "0000286961" "00025856" "30" "914" "0" "914" "0" "c.914A>G" "r.(?)" "p.(Asn305Ser)" "" "0000286961" "00000656" "30" "935" "0" "935" "0" "c.935A>G" "r.(?)" "p.(Asn312Ser)" "" "0000292404" "00025856" "30" "987" "0" "987" "0" "c.987C>T" "r.(?)" "p.(Thr329=)" "" "0000292404" "00000656" "30" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Thr336=)" "" "0000292405" "00025856" "50" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Ser40Leu)" "" "0000292405" "00000656" "50" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Ser40Leu)" "" "0000292406" "00025856" "30" "12" "0" "12" "0" "c.12G>A" "r.(?)" "p.(Lys4=)" "" "0000292406" "00000656" "30" "12" "0" "12" "0" "c.12G>A" "r.(?)" "p.(Lys4=)" "" "0000292407" "00025856" "50" "1502" "0" "1502" "0" "c.1502G>A" "r.(?)" "p.(Arg501His)" "" "0000292407" "00000656" "50" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Arg508His)" "" "0000292408" "00025856" "30" "1569" "0" "1569" "0" "c.1569G>A" "r.(?)" "p.(Glu523=)" "" "0000292408" "00000656" "30" "1590" "0" "1590" "0" "c.1590G>A" "r.(?)" "p.(Glu530=)" "" "0000292409" "00025856" "30" "1833" "0" "1833" "0" "c.1833C>T" "r.(?)" "p.(Ser611=)" "" "0000292409" "00000656" "30" "1854" "0" "1854" "0" "c.1854C>T" "r.(?)" "p.(Ser618=)" "" "0000292410" "00025856" "50" "1876" "0" "1876" "0" "c.1876G>A" "r.(?)" "p.(Val626Met)" "" "0000292410" "00000656" "50" "1897" "0" "1897" "0" "c.1897G>A" "r.(?)" "p.(Val633Met)" "" "0000292411" "00025856" "50" "1913" "0" "1913" "0" "c.1913C>T" "r.(?)" "p.(Ser638Leu)" "" "0000292411" "00000656" "50" "1934" "0" "1934" "0" "c.1934C>T" "r.(?)" "p.(Ser645Leu)" "" "0000292412" "00025856" "30" "2049" "0" "2049" "0" "c.2049C>T" "r.(?)" "p.(His683=)" "" "0000292412" "00000656" "30" "2070" "0" "2070" "0" "c.2070C>T" "r.(?)" "p.(His690=)" "" "0000292413" "00025856" "50" "2075" "0" "2075" "0" "c.2075C>T" "r.(?)" "p.(Ala692Val)" "" "0000292413" "00000656" "50" "2096" "0" "2096" "0" "c.2096C>T" "r.(?)" "p.(Ala699Val)" "" "0000292414" "00025856" "30" "2823" "0" "2823" "0" "c.2823A>G" "r.(?)" "p.(Leu941=)" "" "0000292414" "00000656" "30" "2844" "0" "2844" "0" "c.2844A>G" "r.(?)" "p.(Leu948=)" "" "0000292415" "00025856" "30" "2860" "-14" "2860" "-14" "c.2860-14C>G" "r.(=)" "p.(=)" "" "0000292415" "00000656" "30" "2881" "-14" "2881" "-14" "c.2881-14C>G" "r.(=)" "p.(=)" "" "0000292416" "00025856" "30" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Asn97=)" "" "0000292416" "00000656" "30" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Asn97=)" "" "0000292417" "00025856" "30" "300" "0" "300" "0" "c.300C>T" "r.(?)" "p.(Ser100=)" "" "0000292417" "00000656" "30" "300" "0" "300" "0" "c.300C>T" "r.(?)" "p.(Ser100=)" "" "0000292418" "00025856" "50" "301" "0" "301" "0" "c.301G>A" "r.(?)" "p.(Val101Met)" "" "0000292418" "00000656" "50" "301" "0" "301" "0" "c.301G>A" "r.(?)" "p.(Val101Met)" "" "0000292419" "00025856" "50" "3067" "0" "3067" "0" "c.3067A>G" "r.(?)" "p.(Lys1023Glu)" "" "0000292419" "00000656" "50" "3088" "0" "3088" "0" "c.3088A>G" "r.(?)" "p.(Lys1030Glu)" "" "0000292420" "00025856" "30" "3293" "5" "3293" "5" "c.3293+5C>T" "r.spl?" "p.?" "" "0000292420" "00000656" "30" "3314" "5" "3314" "5" "c.3314+5C>T" "r.spl?" "p.?" "" "0000292421" "00025856" "30" "3293" "6" "3293" "6" "c.3293+6G>A" "r.(=)" "p.(=)" "" "0000292421" "00000656" "30" "3314" "6" "3314" "6" "c.3314+6G>A" "r.(=)" "p.(=)" "" "0000292422" "00025856" "50" "3562" "0" "3562" "0" "c.3562C>T" "r.(?)" "p.(Arg1188Trp)" "" "0000292422" "00000656" "50" "3583" "0" "3583" "0" "c.3583C>T" "r.(?)" "p.(Arg1195Trp)" "" "0000292423" "00025856" "50" "3579" "0" "3579" "0" "c.3579G>C" "r.(?)" "p.(Gln1193His)" "" "0000292423" "00000656" "50" "3600" "0" "3600" "0" "c.3600G>C" "r.(?)" "p.(Gln1200His)" "" "0000292424" "00025856" "30" "3816" "0" "3816" "0" "c.3816G>A" "r.(?)" "p.(Glu1272=)" "" "0000292424" "00000656" "30" "3837" "0" "3837" "0" "c.3837G>A" "r.(?)" "p.(Glu1279=)" "" "0000292425" "00025856" "30" "4116" "11" "4116" "11" "c.4116+11del" "r.(=)" "p.(=)" "" "0000292425" "00000656" "30" "4137" "11" "4137" "11" "c.4137+11del" "r.(=)" "p.(=)" "" "0000292426" "00025856" "10" "4242" "0" "4242" "0" "c.4242T>G" "r.(?)" "p.(Ala1414=)" "" "0000292426" "00000656" "10" "4263" "0" "4263" "0" "c.4263T>G" "r.(?)" "p.(Ala1421=)" "" "0000292427" "00025856" "50" "4343" "0" "4343" "0" "c.4343A>G" "r.(?)" "p.(Lys1448Arg)" "" "0000292427" "00000656" "50" "4364" "0" "4364" "0" "c.4364A>G" "r.(?)" "p.(Lys1455Arg)" "" "0000292428" "00025856" "50" "4345" "0" "4347" "0" "c.4345_4347del" "r.(?)" "p.(Lys1449del)" "" "0000292428" "00000656" "50" "4366" "0" "4368" "0" "c.4366_4368del" "r.(?)" "p.(Lys1456del)" "" "0000292429" "00025856" "30" "4365" "10" "4365" "10" "c.4365+10G>A" "r.(=)" "p.(=)" "" "0000292429" "00000656" "30" "4386" "10" "4386" "10" "c.4386+10G>A" "r.(=)" "p.(=)" "" "0000292430" "00025856" "30" "4365" "9" "4365" "9" "c.4365+9C>T" "r.(=)" "p.(=)" "" "0000292430" "00000656" "30" "4386" "9" "4386" "9" "c.4386+9C>T" "r.(=)" "p.(=)" "" "0000292431" "00025856" "30" "4506" "0" "4506" "0" "c.4506C>T" "r.(?)" "p.(Leu1502=)" "" "0000292431" "00000656" "30" "4527" "0" "4527" "0" "c.4527C>T" "r.(?)" "p.(Leu1509=)" "" "0000292432" "00025856" "30" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Pro151=)" "" "0000292432" "00000656" "30" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Pro151=)" "" "0000292433" "00025856" "10" "4522" "0" "4522" "0" "c.4522A>G" "r.(?)" "p.(Met1508Val)" "" "0000292433" "00000656" "10" "4543" "0" "4543" "0" "c.4543A>G" "r.(?)" "p.(Met1515Val)" "" "0000292434" "00025856" "30" "4578" "3" "4578" "3" "c.4578+3A>G" "r.spl?" "p.?" "" "0000292434" "00000656" "30" "4599" "3" "4599" "3" "c.4599+3A>G" "r.spl?" "p.?" "" "0000292435" "00025856" "30" "5226" "0" "5226" "0" "c.5226G>C" "r.(?)" "p.(Glu1742Asp)" "" "0000292435" "00000656" "30" "5247" "0" "5247" "0" "c.5247G>C" "r.(?)" "p.(Glu1749Asp)" "" "0000292436" "00025856" "30" "5296" "-4" "5296" "-4" "c.5296-4C>T" "r.spl?" "p.?" "" "0000292436" "00000656" "30" "5317" "-4" "5317" "-4" "c.5317-4C>T" "r.spl?" "p.?" "" "0000292437" "00025856" "10" "5439" "0" "5439" "0" "c.5439G>A" "r.(?)" "p.(Lys1813=)" "" "0000292437" "00000656" "10" "5460" "0" "5460" "0" "c.5460G>A" "r.(?)" "p.(Lys1820=)" "" "0000292438" "00025856" "50" "5441" "0" "5441" "0" "c.5441C>T" "r.(?)" "p.(Ser1814Phe)" "" "0000292438" "00000656" "50" "5462" "0" "5462" "0" "c.5462C>T" "r.(?)" "p.(Ser1821Phe)" "" "0000292439" "00025856" "10" "5478" "0" "5478" "0" "c.5478G>A" "r.(?)" "p.(Leu1826=)" "" "0000292439" "00000656" "10" "5499" "0" "5499" "0" "c.5499G>A" "r.(?)" "p.(Leu1833=)" "" "0000292440" "00025856" "30" "5499" "0" "5499" "0" "c.5499G>C" "r.(?)" "p.(Glu1833Asp)" "" "0000292440" "00000656" "30" "5520" "0" "5520" "0" "c.5520G>C" "r.(?)" "p.(Glu1840Asp)" "" "0000292441" "00025856" "30" "5566" "0" "5566" "0" "c.5566C>T" "r.(?)" "p.(Leu1856=)" "" "0000292441" "00000656" "30" "5587" "0" "5587" "0" "c.5587C>T" "r.(?)" "p.(Leu1863=)" "" "0000292442" "00025856" "30" "5614" "-7" "5614" "-7" "c.5614-7G>A" "r.(=)" "p.(=)" "" "0000292442" "00000656" "30" "5635" "-7" "5635" "-7" "c.5635-7G>A" "r.(=)" "p.(=)" "" "0000292443" "00025856" "30" "5614" "-8" "5614" "-8" "c.5614-8C>T" "r.(=)" "p.(=)" "" "0000292443" "00000656" "30" "5635" "-8" "5635" "-8" "c.5635-8C>T" "r.(=)" "p.(=)" "" "0000292444" "00025856" "30" "5676" "0" "5676" "0" "c.5676G>C" "r.(?)" "p.(Glu1892Asp)" "" "0000292444" "00000656" "30" "5697" "0" "5697" "0" "c.5697G>C" "r.(?)" "p.(Glu1899Asp)" "" "0000292445" "00025856" "30" "5787" "-4729" "5787" "-4726" "c.5787-4729_5787-4726del" "r.(=)" "p.(=)" "" "0000292445" "00000656" "30" "5808" "-11" "5808" "-8" "c.5808-11_5808-8del" "r.(=)" "p.(=)" "" "0000292446" "00025856" "30" "5787" "-4715" "5787" "-4715" "c.5787-4715G>C" "r.(=)" "p.(=)" "" "0000292446" "00000656" "30" "5811" "0" "5811" "0" "c.5811G>C" "r.(?)" "p.(Gly1937=)" "" "0000292447" "00025856" "30" "5787" "-4707" "5787" "-4707" "c.5787-4707C>G" "r.(=)" "p.(=)" "" "0000292447" "00000656" "30" "5819" "0" "5819" "0" "c.5819C>G" "r.(?)" "p.(Pro1940Arg)" "" "0000292448" "00025856" "30" "5787" "-4707" "5787" "-4707" "c.5787-4707C>T" "r.(=)" "p.(=)" "" "0000292448" "00000656" "30" "5819" "0" "5819" "0" "c.5819C>T" "r.(?)" "p.(Pro1940Leu)" "" "0000292449" "00025856" "30" "5800" "0" "5800" "0" "c.5800A>T" "r.(?)" "p.(Thr1934Ser)" "" "0000292449" "00000656" "30" "5860" "0" "5860" "0" "c.*22A>T" "r.(=)" "p.(=)" "" "0000292450" "00025856" "50" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Val197Met)" "" "0000292450" "00000656" "50" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Val197Met)" "" "0000292451" "00025856" "50" "5884" "0" "5884" "0" "c.5884G>T" "r.(?)" "p.(Asp1962Tyr)" "" "0000292451" "00000656" "50" "5944" "0" "5944" "0" "c.*106G>T" "r.(=)" "p.(=)" "" "0000292452" "00025856" "50" "65" "0" "65" "0" "c.65A>G" "r.(?)" "p.(Asn22Ser)" "" "0000292452" "00000656" "50" "65" "0" "65" "0" "c.65A>G" "r.(?)" "p.(Asn22Ser)" "" "0000292453" "00025856" "30" "914" "0" "914" "0" "c.914A>G" "r.(?)" "p.(Asn305Ser)" "" "0000292453" "00000656" "30" "935" "0" "935" "0" "c.935A>G" "r.(?)" "p.(Asn312Ser)" "" "0000292454" "00025856" "30" "960" "0" "960" "0" "c.960C>T" "r.(?)" "p.(Ala320=)" "" "0000292454" "00000656" "30" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(Ala327=)" "" "0000296341" "00025856" "10" "5439" "0" "5439" "0" "c.5439G>A" "r.(?)" "p.(Lys1813=)" "" "0000296341" "00000656" "10" "5460" "0" "5460" "0" "c.5460G>A" "r.(?)" "p.(Lys1820=)" "" "0000296342" "00025856" "10" "5478" "0" "5478" "0" "c.5478G>A" "r.(?)" "p.(Leu1826=)" "" "0000296342" "00000656" "10" "5499" "0" "5499" "0" "c.5499G>A" "r.(?)" "p.(Leu1833=)" "" "0000302942" "00025856" "30" "42510" "0" "42510" "0" "c.*36591G>A" "r.(=)" "p.(=)" "" "0000302942" "00000656" "30" "42570" "0" "42570" "0" "c.*36732G>A" "r.(=)" "p.(=)" "" "0000302943" "00025856" "30" "32038" "0" "32038" "0" "c.*26119G>C" "r.(=)" "p.(=)" "" "0000302943" "00000656" "30" "32098" "0" "32098" "0" "c.*26260G>C" "r.(=)" "p.(=)" "" "0000302944" "00025856" "30" "22436" "0" "22436" "0" "c.*16517G>A" "r.(=)" "p.(=)" "" "0000302944" "00000656" "30" "22496" "0" "22496" "0" "c.*16658G>A" "r.(=)" "p.(=)" "" "0000302945" "00025856" "30" "45066" "0" "45066" "0" "c.*39147C>T" "r.(=)" "p.(=)" "" "0000302945" "00000656" "30" "45126" "0" "45126" "0" "c.*39288C>T" "r.(=)" "p.(=)" "" "0000302946" "00025856" "30" "15728" "0" "15728" "0" "c.*9809C>T" "r.(=)" "p.(=)" "" "0000302946" "00000656" "30" "15788" "0" "15788" "0" "c.*9950C>T" "r.(=)" "p.(=)" "" "0000302947" "00025856" "50" "15726" "0" "15726" "0" "c.*9807C>A" "r.(=)" "p.(=)" "" "0000302947" "00000656" "50" "15786" "0" "15786" "0" "c.*9948C>A" "r.(=)" "p.(=)" "" "0000302948" "00025856" "10" "13160" "0" "13160" "0" "c.*7241G>A" "r.(=)" "p.(=)" "" "0000302948" "00000656" "10" "13220" "0" "13220" "0" "c.*7382G>A" "r.(=)" "p.(=)" "" "0000302949" "00025856" "30" "4293" "0" "4293" "0" "c.4293C>T" "r.(?)" "p.(Asp1431=)" "" "0000302949" "00000656" "30" "4314" "0" "4314" "0" "c.4314C>T" "r.(?)" "p.(Asp1438=)" "" "0000324610" "00025856" "30" "18718" "0" "18718" "0" "c.*12799G>A" "r.(=)" "p.(=)" "" "0000324610" "00000656" "30" "18778" "0" "18778" "0" "c.*12940G>A" "r.(=)" "p.(=)" "" "0000324611" "00025856" "50" "18683" "0" "18683" "0" "c.*12764C>A" "r.(=)" "p.(=)" "" "0000324611" "00000656" "50" "18743" "0" "18743" "0" "c.*12905C>A" "r.(=)" "p.(=)" "" "0000324612" "00025856" "50" "18643" "0" "18643" "0" "c.*12724G>C" "r.(=)" "p.(=)" "" "0000324612" "00000656" "50" "18703" "0" "18703" "0" "c.*12865G>C" "r.(=)" "p.(=)" "" "0000324615" "00025856" "50" "5399" "0" "5399" "0" "c.5399A>C" "r.(?)" "p.(Lys1800Thr)" "" "0000324615" "00000656" "50" "5420" "0" "5420" "0" "c.5420A>C" "r.(?)" "p.(Lys1807Thr)" "" "0000324617" "00025856" "30" "4673" "0" "4673" "0" "c.4673C>T" "r.(?)" "p.(Thr1558Met)" "" "0000324617" "00000656" "30" "4694" "0" "4694" "0" "c.4694C>T" "r.(?)" "p.(Thr1565Met)" "" "0000324618" "00025856" "30" "4578" "3" "4578" "3" "c.4578+3A>G" "r.spl?" "p.?" "" "0000324618" "00000656" "30" "4599" "3" "4599" "3" "c.4599+3A>G" "r.spl?" "p.?" "" "0000324620" "00025856" "50" "4310" "0" "4310" "0" "c.4310A>G" "r.(?)" "p.(Asp1437Gly)" "" "0000324620" "00000656" "50" "4331" "0" "4331" "0" "c.4331A>G" "r.(?)" "p.(Asp1444Gly)" "" "0000324622" "00025856" "30" "3928" "0" "3928" "0" "c.3928G>A" "r.(?)" "p.(Val1310Met)" "" "0000324622" "00000656" "30" "3949" "0" "3949" "0" "c.3949G>A" "r.(?)" "p.(Val1317Met)" "" "0000324623" "00025856" "50" "3910" "0" "3910" "0" "c.3910A>C" "r.(?)" "p.(Ile1304Leu)" "" "0000324623" "00000656" "50" "3931" "0" "3931" "0" "c.3931A>C" "r.(?)" "p.(Ile1311Leu)" "" "0000324624" "00025856" "50" "3766" "0" "3768" "0" "c.3766_3768del" "r.(?)" "p.(Lys1256del)" "" "0000324624" "00000656" "50" "3787" "0" "3789" "0" "c.3787_3789del" "r.(?)" "p.(Lys1263del)" "" "0000324626" "00025856" "50" "3310" "0" "3310" "0" "c.3310G>A" "r.(?)" "p.(Ala1104Thr)" "" "0000324626" "00000656" "50" "3331" "0" "3331" "0" "c.3331G>A" "r.(?)" "p.(Ala1111Thr)" "" "0000324627" "00025856" "50" "2426" "0" "2426" "0" "c.2426G>A" "r.(?)" "p.(Arg809Lys)" "" "0000324627" "00000656" "50" "2447" "0" "2447" "0" "c.2447G>A" "r.(?)" "p.(Arg816Lys)" "" "0000324628" "00025856" "50" "1879" "0" "1879" "0" "c.1879G>A" "r.(?)" "p.(Gly627Ser)" "" "0000324628" "00000656" "50" "1900" "0" "1900" "0" "c.1900G>A" "r.(?)" "p.(Gly634Ser)" "" "0000324630" "00025856" "30" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Cys)" "" "0000324630" "00000656" "30" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Cys)" "" "0000324631" "00025856" "50" "217" "0" "217" "0" "c.217A>C" "r.(?)" "p.(Lys73Gln)" "" "0000324631" "00000656" "50" "217" "0" "217" "0" "c.217A>C" "r.(?)" "p.(Lys73Gln)" "" "0000556705" "00025856" "30" "70691" "0" "70691" "0" "c.*64772C>G" "r.(=)" "p.(=)" "" "0000556705" "00000656" "30" "70751" "0" "70751" "0" "c.*64913C>G" "r.(=)" "p.(=)" "" "0000556720" "00025856" "30" "22484" "0" "22484" "0" "c.*16565G>A" "r.(=)" "p.(=)" "" "0000556720" "00000656" "30" "22544" "0" "22544" "0" "c.*16706G>A" "r.(=)" "p.(=)" "" "0000556721" "00025856" "10" "18718" "0" "18718" "0" "c.*12799G>A" "r.(=)" "p.(=)" "" "0000556721" "00000656" "10" "18778" "0" "18778" "0" "c.*12940G>A" "r.(=)" "p.(=)" "" "0000556722" "00025856" "50" "5800" "0" "5800" "0" "c.5800A>T" "r.(?)" "p.(Thr1934Ser)" "" "0000556722" "00000656" "50" "5860" "0" "5860" "0" "c.*22A>T" "r.(=)" "p.(=)" "" "0000556723" "00025856" "10" "5796" "0" "5796" "0" "c.5796C>T" "r.(?)" "p.(Asn1932=)" "" "0000556723" "00000656" "10" "5856" "0" "5856" "0" "c.*18C>T" "r.(=)" "p.(=)" "" "0000556724" "00025856" "10" "5796" "0" "5796" "0" "c.5796C>T" "r.(?)" "p.(Asn1932=)" "" "0000556724" "00000656" "10" "5856" "0" "5856" "0" "c.*18C>T" "r.(=)" "p.(=)" "" "0000556725" "00025856" "50" "5787" "-4672" "5787" "-4672" "c.5787-4672G>A" "r.(=)" "p.(=)" "" "0000556725" "00000656" "50" "5846" "8" "5846" "8" "c.*8+8G>A" "r.(=)" "p.(=)" "" "0000556726" "00025856" "30" "5787" "-4707" "5787" "-4707" "c.5787-4707C>A" "r.(=)" "p.(=)" "" "0000556726" "00000656" "30" "5819" "0" "5819" "0" "c.5819C>A" "r.(?)" "p.(Pro1940Gln)" "" "0000556727" "00025856" "10" "5787" "-4707" "5787" "-4707" "c.5787-4707C>A" "r.(=)" "p.(=)" "" "0000556727" "00000656" "10" "5819" "0" "5819" "0" "c.5819C>A" "r.(?)" "p.(Pro1940Gln)" "" "0000556728" "00025856" "50" "5787" "-4713" "5787" "-4713" "c.5787-4713C>G" "r.(=)" "p.(=)" "" "0000556728" "00000656" "50" "5813" "0" "5813" "0" "c.5813C>G" "r.(?)" "p.(Pro1938Arg)" "" "0000556729" "00025856" "50" "5787" "-4707" "5787" "-4707" "c.5787-4707del" "r.(=)" "p.(=)" "" "0000556729" "00000656" "50" "5819" "0" "5819" "0" "c.5819del" "r.(?)" "p.(Pro1940HisfsTer91)" "" "0000556730" "00025856" "30" "5787" "-4715" "5787" "-4715" "c.5787-4715G>C" "r.(=)" "p.(=)" "" "0000556730" "00000656" "30" "5811" "0" "5811" "0" "c.5811G>C" "r.(?)" "p.(Gly1937=)" "" "0000556731" "00025856" "50" "5776" "0" "5776" "0" "c.5776A>G" "r.(?)" "p.(Ser1926Gly)" "" "0000556731" "00000656" "50" "5797" "0" "5797" "0" "c.5797A>G" "r.(?)" "p.(Ser1933Gly)" "" "0000556732" "00025856" "30" "5767" "0" "5767" "0" "c.5767G>A" "r.(?)" "p.(Ala1923Thr)" "" "0000556732" "00000656" "30" "5788" "0" "5788" "0" "c.5788G>A" "r.(?)" "p.(Ala1930Thr)" "" "0000556733" "00025856" "50" "5766" "0" "5766" "0" "c.5766C>T" "r.(?)" "p.(Asn1922=)" "" "0000556733" "00000656" "50" "5787" "0" "5787" "0" "c.5787C>T" "r.(?)" "p.(Asn1929=)" "" "0000556734" "00025856" "50" "5743" "0" "5743" "0" "c.5743G>A" "r.(?)" "p.(Glu1915Lys)" "" "0000556734" "00000656" "50" "5764" "0" "5764" "0" "c.5764G>A" "r.(?)" "p.(Glu1922Lys)" "" "0000556735" "00025856" "30" "5691" "0" "5691" "0" "c.5691C>T" "r.(?)" "p.(Asn1897=)" "" "0000556735" "00000656" "30" "5712" "0" "5712" "0" "c.5712C>T" "r.(?)" "p.(Asn1904=)" "" "0000556736" "00025856" "30" "5676" "0" "5676" "0" "c.5676G>C" "r.(?)" "p.(Glu1892Asp)" "" "0000556736" "00000656" "30" "5697" "0" "5697" "0" "c.5697G>C" "r.(?)" "p.(Glu1899Asp)" "" "0000556738" "00025856" "30" "5614" "-7" "5614" "-7" "c.5614-7G>A" "r.(=)" "p.(=)" "" "0000556738" "00000656" "30" "5635" "-7" "5635" "-7" "c.5635-7G>A" "r.(=)" "p.(=)" "" "0000556739" "00025856" "30" "5614" "-7" "5614" "-7" "c.5614-7G>A" "r.(=)" "p.(=)" "" "0000556739" "00000656" "30" "5635" "-7" "5635" "-7" "c.5635-7G>A" "r.(=)" "p.(=)" "" "0000556740" "00025856" "50" "5596" "0" "5596" "0" "c.5596G>A" "r.(?)" "p.(Glu1866Lys)" "" "0000556740" "00000656" "50" "5617" "0" "5617" "0" "c.5617G>A" "r.(?)" "p.(Glu1873Lys)" "" "0000556743" "00025856" "30" "5566" "0" "5566" "0" "c.5566C>T" "r.(?)" "p.(Leu1856=)" "" "0000556743" "00000656" "30" "5587" "0" "5587" "0" "c.5587C>T" "r.(?)" "p.(Leu1863=)" "" "0000556745" "00025856" "30" "5504" "7" "5504" "7" "c.5504+7G>T" "r.(=)" "p.(=)" "" "0000556745" "00000656" "30" "5525" "7" "5525" "7" "c.5525+7G>T" "r.(=)" "p.(=)" "" "0000556746" "00025856" "30" "5499" "0" "5499" "0" "c.5499G>C" "r.(?)" "p.(Glu1833Asp)" "" "0000556746" "00000656" "30" "5520" "0" "5520" "0" "c.5520G>C" "r.(?)" "p.(Glu1840Asp)" "" "0000556747" "00025856" "30" "5499" "0" "5499" "0" "c.5499G>C" "r.(?)" "p.(Glu1833Asp)" "" "0000556747" "00000656" "30" "5520" "0" "5520" "0" "c.5520G>C" "r.(?)" "p.(Glu1840Asp)" "" "0000556748" "00025856" "30" "5499" "0" "5499" "0" "c.5499G>C" "r.(?)" "p.(Glu1833Asp)" "" "0000556748" "00000656" "30" "5520" "0" "5520" "0" "c.5520G>C" "r.(?)" "p.(Glu1840Asp)" "" "0000556749" "00025856" "30" "5499" "0" "5499" "0" "c.5499G>C" "r.(?)" "p.(Glu1833Asp)" "" "0000556749" "00000656" "30" "5520" "0" "5520" "0" "c.5520G>C" "r.(?)" "p.(Glu1840Asp)" "" "0000556750" "00025856" "10" "5478" "0" "5478" "0" "c.5478G>A" "r.(?)" "p.(Leu1826=)" "" "0000556750" "00000656" "10" "5499" "0" "5499" "0" "c.5499G>A" "r.(?)" "p.(Leu1833=)" "" "0000556751" "00025856" "30" "5441" "0" "5441" "0" "c.5441C>T" "r.(?)" "p.(Ser1814Phe)" "" "0000556751" "00000656" "30" "5462" "0" "5462" "0" "c.5462C>T" "r.(?)" "p.(Ser1821Phe)" "" "0000556752" "00025856" "10" "5439" "0" "5439" "0" "c.5439G>A" "r.(?)" "p.(Lys1813=)" "" "0000556752" "00000656" "10" "5460" "0" "5460" "0" "c.5460G>A" "r.(?)" "p.(Lys1820=)" "" "0000556753" "00025856" "30" "5404" "0" "5404" "0" "c.5404C>T" "r.(?)" "p.(His1802Tyr)" "" "0000556753" "00000656" "30" "5425" "0" "5425" "0" "c.5425C>T" "r.(?)" "p.(His1809Tyr)" "" "0000556756" "00025856" "30" "5370" "0" "5370" "0" "c.5370C>T" "r.(?)" "p.(Leu1790=)" "" "0000556756" "00000656" "30" "5391" "0" "5391" "0" "c.5391C>T" "r.(?)" "p.(Leu1797=)" "" "0000556757" "00025856" "30" "5328" "0" "5328" "0" "c.5328G>A" "r.(?)" "p.(Glu1776=)" "" "0000556757" "00000656" "30" "5349" "0" "5349" "0" "c.5349G>A" "r.(?)" "p.(Glu1783=)" "" "0000556758" "00025856" "30" "5296" "-10" "5296" "-10" "c.5296-10T>C" "r.(=)" "p.(=)" "" "0000556758" "00000656" "30" "5317" "-10" "5317" "-10" "c.5317-10T>C" "r.(=)" "p.(=)" "" "0000556759" "00025856" "50" "5273" "0" "5273" "0" "c.5273G>A" "r.(?)" "p.(Arg1758Gln)" "" "0000556759" "00000656" "50" "5294" "0" "5294" "0" "c.5294G>A" "r.(?)" "p.(Arg1765Gln)" "" "0000556760" "00025856" "50" "5246" "0" "5246" "0" "c.5246A>C" "r.(?)" "p.(Gln1749Pro)" "" "0000556760" "00000656" "50" "5267" "0" "5267" "0" "c.5267A>C" "r.(?)" "p.(Gln1756Pro)" "" "0000556761" "00025856" "30" "5176" "0" "5176" "0" "c.5176G>A" "r.(?)" "p.(Ala1726Thr)" "" "0000556761" "00000656" "30" "5197" "0" "5197" "0" "c.5197G>A" "r.(?)" "p.(Ala1733Thr)" "" "0000556764" "00025856" "30" "4920" "0" "4920" "0" "c.4920G>A" "r.(?)" "p.(Arg1640=)" "" "0000556764" "00000656" "30" "4941" "0" "4941" "0" "c.4941G>A" "r.(?)" "p.(Arg1647=)" "" "0000556765" "00025856" "50" "4861" "0" "4861" "0" "c.4861A>C" "r.(?)" "p.(Lys1621Gln)" "" "0000556765" "00000656" "50" "4882" "0" "4882" "0" "c.4882A>C" "r.(?)" "p.(Lys1628Gln)" "" "0000556766" "00025856" "50" "4861" "0" "4861" "0" "c.4861A>C" "r.(?)" "p.(Lys1621Gln)" "" "0000556766" "00000656" "50" "4882" "0" "4882" "0" "c.4882A>C" "r.(?)" "p.(Lys1628Gln)" "" "0000556767" "00025856" "50" "4861" "0" "4861" "0" "c.4861A>C" "r.(?)" "p.(Lys1621Gln)" "" "0000556767" "00000656" "50" "4882" "0" "4882" "0" "c.4882A>C" "r.(?)" "p.(Lys1628Gln)" "" "0000556768" "00025856" "50" "4849" "0" "4849" "0" "c.4849G>T" "r.(?)" "p.(Ala1617Ser)" "" "0000556768" "00000656" "50" "4870" "0" "4870" "0" "c.4870G>T" "r.(?)" "p.(Ala1624Ser)" "" "0000556769" "00025856" "50" "4835" "0" "4835" "0" "c.4835G>A" "r.(?)" "p.(Arg1612His)" "" "0000556769" "00000656" "50" "4856" "0" "4856" "0" "c.4856G>A" "r.(?)" "p.(Arg1619His)" "" "0000556770" "00025856" "30" "4809" "0" "4809" "0" "c.4809G>A" "r.(?)" "p.(Thr1603=)" "" "0000556770" "00000656" "30" "4830" "0" "4830" "0" "c.4830G>A" "r.(?)" "p.(Thr1610=)" "" "0000556771" "00025856" "10" "4770" "0" "4770" "0" "c.4770G>A" "r.(?)" "p.(Lys1590=)" "" "0000556771" "00000656" "10" "4791" "0" "4791" "0" "c.4791G>A" "r.(?)" "p.(Lys1597=)" "" "0000556772" "00025856" "50" "4735" "0" "4735" "0" "c.4735G>A" "r.(?)" "p.(Asp1579Asn)" "" "0000556772" "00000656" "50" "4756" "0" "4756" "0" "c.4756G>A" "r.(?)" "p.(Asp1586Asn)" "" "0000556773" "00025856" "50" "4735" "0" "4735" "0" "c.4735G>A" "r.(?)" "p.(Asp1579Asn)" "" "0000556773" "00000656" "50" "4756" "0" "4756" "0" "c.4756G>A" "r.(?)" "p.(Asp1586Asn)" "" "0000556774" "00025856" "50" "4673" "0" "4673" "0" "c.4673C>T" "r.(?)" "p.(Thr1558Met)" "" "0000556774" "00000656" "50" "4694" "0" "4694" "0" "c.4694C>T" "r.(?)" "p.(Thr1565Met)" "" "0000556775" "00025856" "30" "4673" "0" "4673" "0" "c.4673C>T" "r.(?)" "p.(Thr1558Met)" "" "0000556775" "00000656" "30" "4694" "0" "4694" "0" "c.4694C>T" "r.(?)" "p.(Thr1565Met)" "" "0000556776" "00025856" "30" "4673" "0" "4673" "0" "c.4673C>T" "r.(?)" "p.(Thr1558Met)" "" "0000556776" "00000656" "30" "4694" "0" "4694" "0" "c.4694C>T" "r.(?)" "p.(Thr1565Met)" "" "0000556777" "00025856" "50" "4604" "0" "4604" "0" "c.4604G>A" "r.(?)" "p.(Arg1535Gln)" "" "0000556777" "00000656" "50" "4625" "0" "4625" "0" "c.4625G>A" "r.(?)" "p.(Arg1542Gln)" "" "0000556778" "00025856" "50" "4604" "0" "4604" "0" "c.4604G>A" "r.(?)" "p.(Arg1535Gln)" "" "0000556778" "00000656" "50" "4625" "0" "4625" "0" "c.4625G>A" "r.(?)" "p.(Arg1542Gln)" "" "0000556779" "00025856" "30" "4604" "0" "4604" "0" "c.4604G>A" "r.(?)" "p.(Arg1535Gln)" "" "0000556779" "00000656" "30" "4625" "0" "4625" "0" "c.4625G>A" "r.(?)" "p.(Arg1542Gln)" "" "0000556780" "00025856" "30" "4604" "0" "4604" "0" "c.4604G>A" "r.(?)" "p.(Arg1535Gln)" "" "0000556780" "00000656" "30" "4625" "0" "4625" "0" "c.4625G>A" "r.(?)" "p.(Arg1542Gln)" "" "0000556781" "00025856" "10" "4578" "19" "4578" "19" "c.4578+19T>C" "r.(=)" "p.(=)" "" "0000556781" "00000656" "10" "4599" "19" "4599" "19" "c.4599+19T>C" "r.(=)" "p.(=)" "" "0000556782" "00025856" "50" "4543" "0" "4543" "0" "c.4543G>A" "r.(?)" "p.(Asp1515Asn)" "" "0000556782" "00000656" "50" "4564" "0" "4564" "0" "c.4564G>A" "r.(?)" "p.(Asp1522Asn)" "" "0000556783" "00025856" "50" "4403" "0" "4403" "0" "c.4403C>T" "r.(?)" "p.(Ala1468Val)" "" "0000556783" "00000656" "50" "4424" "0" "4424" "0" "c.4424C>T" "r.(?)" "p.(Ala1475Val)" "" "0000556784" "00025856" "30" "4366" "-4" "4366" "-4" "c.4366-4G>A" "r.spl?" "p.?" "" "0000556784" "00000656" "30" "4387" "-4" "4387" "-4" "c.4387-4G>A" "r.spl?" "p.?" "" "0000556785" "00025856" "50" "4315" "0" "4315" "0" "c.4315C>G" "r.(?)" "p.(Gln1439Glu)" "" "0000556785" "00000656" "50" "4336" "0" "4336" "0" "c.4336C>G" "r.(?)" "p.(Gln1446Glu)" "" "0000556786" "00025856" "10" "4239" "0" "4239" "0" "c.4239C>T" "r.(?)" "p.(Ala1413=)" "" "0000556786" "00000656" "10" "4260" "0" "4260" "0" "c.4260C>T" "r.(?)" "p.(Ala1420=)" "" "0000556787" "00025856" "10" "4239" "0" "4239" "0" "c.4239C>T" "r.(?)" "p.(Ala1413=)" "" "0000556787" "00000656" "10" "4260" "0" "4260" "0" "c.4260C>T" "r.(?)" "p.(Ala1420=)" "" "0000556788" "00025856" "10" "4239" "0" "4239" "0" "c.4239C>T" "r.(?)" "p.(Ala1413=)" "" "0000556788" "00000656" "10" "4260" "0" "4260" "0" "c.4260C>T" "r.(?)" "p.(Ala1420=)" "" "0000556789" "00025856" "30" "4197" "0" "4197" "0" "c.4197G>A" "r.(?)" "p.(Lys1399=)" "" "0000556789" "00000656" "30" "4218" "0" "4218" "0" "c.4218G>A" "r.(?)" "p.(Lys1406=)" "" "0000556790" "00025856" "10" "4158" "0" "4158" "0" "c.4158C>T" "r.(?)" "p.(Thr1386=)" "" "0000556790" "00000656" "10" "4179" "0" "4179" "0" "c.4179C>T" "r.(?)" "p.(Thr1393=)" "" "0000556791" "00025856" "50" "4123" "0" "4123" "0" "c.4123G>A" "r.(?)" "p.(Asp1375Asn)" "" "0000556791" "00000656" "50" "4144" "0" "4144" "0" "c.4144G>A" "r.(?)" "p.(Asp1382Asn)" "" "0000556792" "00025856" "30" "4122" "0" "4122" "0" "c.4122C>T" "r.(?)" "p.(Ser1374=)" "" "0000556792" "00000656" "30" "4143" "0" "4143" "0" "c.4143C>T" "r.(?)" "p.(Ser1381=)" "" "0000556793" "00025856" "30" "4116" "10" "4116" "10" "c.4116+10C>G" "r.(=)" "p.(=)" "" "0000556793" "00000656" "30" "4137" "10" "4137" "10" "c.4137+10C>G" "r.(=)" "p.(=)" "" "0000556794" "00025856" "30" "4116" "11" "4116" "11" "c.4116+11del" "r.(=)" "p.(=)" "" "0000556794" "00000656" "30" "4137" "11" "4137" "11" "c.4137+11del" "r.(=)" "p.(=)" "" "0000556795" "00025856" "30" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Glu1357Lys)" "" "0000556795" "00000656" "30" "4090" "0" "4090" "0" "c.4090G>A" "r.(?)" "p.(Glu1364Lys)" "" "0000556796" "00025856" "30" "3973" "0" "3973" "0" "c.3973C>G" "r.(?)" "p.(Gln1325Glu)" "" "0000556796" "00000656" "30" "3994" "0" "3994" "0" "c.3994C>G" "r.(?)" "p.(Gln1332Glu)" "" "0000556797" "00025856" "30" "3928" "0" "3928" "0" "c.3928G>A" "r.(?)" "p.(Val1310Met)" "" "0000556797" "00000656" "30" "3949" "0" "3949" "0" "c.3949G>A" "r.(?)" "p.(Val1317Met)" "" "0000556798" "00025856" "50" "3910" "0" "3910" "0" "c.3910A>C" "r.(?)" "p.(Ile1304Leu)" "" "0000556798" "00000656" "50" "3931" "0" "3931" "0" "c.3931A>C" "r.(?)" "p.(Ile1311Leu)" "" "0000556799" "00025856" "10" "3866" "0" "3866" "0" "c.3866T>C" "r.(?)" "p.(Val1289Ala)" "" "0000556799" "00000656" "10" "3887" "0" "3887" "0" "c.3887T>C" "r.(?)" "p.(Val1296Ala)" "" "0000556800" "00025856" "30" "3866" "0" "3866" "0" "c.3866T>C" "r.(?)" "p.(Val1289Ala)" "" "0000556800" "00000656" "30" "3887" "0" "3887" "0" "c.3887T>C" "r.(?)" "p.(Val1296Ala)" "" "0000556801" "00025856" "30" "3828" "0" "3828" "0" "c.3828G>A" "r.(?)" "p.(Ala1276=)" "" "0000556801" "00000656" "30" "3849" "0" "3849" "0" "c.3849G>A" "r.(?)" "p.(Ala1283=)" "" "0000556802" "00025856" "30" "3828" "0" "3828" "0" "c.3828G>A" "r.(?)" "p.(Ala1276=)" "" "0000556802" "00000656" "30" "3849" "0" "3849" "0" "c.3849G>A" "r.(?)" "p.(Ala1283=)" "" "0000556803" "00025856" "30" "3828" "0" "3828" "0" "c.3828G>A" "r.(?)" "p.(Ala1276=)" "" "0000556803" "00000656" "30" "3849" "0" "3849" "0" "c.3849G>A" "r.(?)" "p.(Ala1283=)" "" "0000556804" "00025856" "30" "3810" "0" "3810" "0" "c.3810T>C" "r.(?)" "p.(Asp1270=)" "" "0000556804" "00000656" "30" "3831" "0" "3831" "0" "c.3831T>C" "r.(?)" "p.(Asp1277=)" "" "0000556805" "00025856" "50" "3766" "0" "3768" "0" "c.3766_3768del" "r.(?)" "p.(Lys1256del)" "" "0000556805" "00000656" "50" "3787" "0" "3789" "0" "c.3787_3789del" "r.(?)" "p.(Lys1263del)" "" "0000556806" "00025856" "70" "3766" "0" "3768" "0" "c.3766_3768del" "r.(?)" "p.(Lys1256del)" "" "0000556806" "00000656" "70" "3787" "0" "3789" "0" "c.3787_3789del" "r.(?)" "p.(Lys1263del)" "" "0000556807" "00025856" "70" "3766" "0" "3768" "0" "c.3766_3768del" "r.(?)" "p.(Lys1256del)" "" "0000556807" "00000656" "70" "3787" "0" "3789" "0" "c.3787_3789del" "r.(?)" "p.(Lys1263del)" "" "0000556808" "00025856" "30" "3652" "-6" "3652" "-6" "c.3652-6C>T" "r.(=)" "p.(=)" "" "0000556808" "00000656" "30" "3673" "-6" "3673" "-6" "c.3673-6C>T" "r.(=)" "p.(=)" "" "0000556809" "00025856" "30" "3652" "-6" "3652" "-6" "c.3652-6C>T" "r.(=)" "p.(=)" "" "0000556809" "00000656" "30" "3673" "-6" "3673" "-6" "c.3673-6C>T" "r.(=)" "p.(=)" "" "0000556810" "00025856" "30" "3652" "-6" "3652" "-6" "c.3652-6C>T" "r.(=)" "p.(=)" "" "0000556810" "00000656" "30" "3673" "-6" "3673" "-6" "c.3673-6C>T" "r.(=)" "p.(=)" "" "0000556811" "00025856" "10" "3652" "-6" "3652" "-6" "c.3652-6C>T" "r.(=)" "p.(=)" "" "0000556811" "00000656" "10" "3673" "-6" "3673" "-6" "c.3673-6C>T" "r.(=)" "p.(=)" "" "0000556812" "00025856" "10" "3652" "-6" "3652" "-6" "c.3652-6C>T" "r.(=)" "p.(=)" "" "0000556812" "00000656" "10" "3673" "-6" "3673" "-6" "c.3673-6C>T" "r.(=)" "p.(=)" "" "0000556813" "00025856" "50" "3579" "0" "3579" "0" "c.3579G>C" "r.(?)" "p.(Gln1193His)" "" "0000556813" "00000656" "50" "3600" "0" "3600" "0" "c.3600G>C" "r.(?)" "p.(Gln1200His)" "" "0000556814" "00025856" "50" "3563" "0" "3563" "0" "c.3563G>A" "r.(?)" "p.(Arg1188Gln)" "" "0000556814" "00000656" "50" "3584" "0" "3584" "0" "c.3584G>A" "r.(?)" "p.(Arg1195Gln)" "" "0000556815" "00025856" "50" "3562" "0" "3562" "0" "c.3562C>T" "r.(?)" "p.(Arg1188Trp)" "" "0000556815" "00000656" "50" "3583" "0" "3583" "0" "c.3583C>T" "r.(?)" "p.(Arg1195Trp)" "" "0000556816" "00025856" "30" "3531" "0" "3531" "0" "c.3531G>A" "r.(?)" "p.(Thr1177=)" "" "0000556816" "00000656" "30" "3552" "0" "3552" "0" "c.3552G>A" "r.(?)" "p.(Thr1184=)" "" "0000556817" "00025856" "50" "3496" "0" "3496" "0" "c.3496C>G" "r.(?)" "p.(Gln1166Glu)" "" "0000556817" "00000656" "50" "3517" "0" "3517" "0" "c.3517C>G" "r.(?)" "p.(Gln1173Glu)" "" "0000556818" "00025856" "30" "3420" "0" "3420" "0" "c.3420G>A" "r.(?)" "p.(Gln1140=)" "" "0000556818" "00000656" "30" "3441" "0" "3441" "0" "c.3441G>A" "r.(?)" "p.(Gln1147=)" "" "0000556819" "00025856" "10" "3310" "0" "3310" "0" "c.3310G>A" "r.(?)" "p.(Ala1104Thr)" "" "0000556819" "00000656" "10" "3331" "0" "3331" "0" "c.3331G>A" "r.(?)" "p.(Ala1111Thr)" "" "0000556820" "00025856" "30" "3309" "0" "3309" "0" "c.3309C>T" "r.(?)" "p.(Ile1103=)" "" "0000556820" "00000656" "30" "3330" "0" "3330" "0" "c.3330C>T" "r.(?)" "p.(Ile1110=)" "" "0000556822" "00025856" "50" "3294" "-5" "3294" "-5" "c.3294-5G>A" "r.spl?" "p.?" "" "0000556822" "00000656" "50" "3315" "-5" "3315" "-5" "c.3315-5G>A" "r.spl?" "p.?" "" "0000556823" "00025856" "30" "3294" "-10" "3294" "-10" "c.3294-10del" "r.(=)" "p.(=)" "" "0000556823" "00000656" "30" "3315" "-10" "3315" "-10" "c.3315-10del" "r.(=)" "p.(=)" "" "0000556824" "00025856" "30" "3294" "-10" "3294" "-10" "c.3294-10del" "r.(=)" "p.(=)" "" "0000556824" "00000656" "30" "3315" "-10" "3315" "-10" "c.3315-10del" "r.(=)" "p.(=)" "" "0000556825" "00025856" "30" "3291" "0" "3291" "0" "c.3291C>T" "r.(?)" "p.(Ala1097=)" "" "0000556825" "00000656" "30" "3312" "0" "3312" "0" "c.3312C>T" "r.(?)" "p.(Ala1104=)" "" "0000556826" "00025856" "50" "3235" "0" "3235" "0" "c.3235G>A" "r.(?)" "p.(Ala1079Thr)" "" "0000556826" "00000656" "50" "3256" "0" "3256" "0" "c.3256G>A" "r.(?)" "p.(Ala1086Thr)" "" "0000556827" "00025856" "30" "3213" "0" "3213" "0" "c.3213C>T" "r.(?)" "p.(Ile1071=)" "" "0000556827" "00000656" "30" "3234" "0" "3234" "0" "c.3234C>T" "r.(?)" "p.(Ile1078=)" "" "0000556828" "00025856" "30" "3031" "0" "3031" "0" "c.3031T>C" "r.(?)" "p.(Leu1011=)" "" "0000556828" "00000656" "30" "3052" "0" "3052" "0" "c.3052T>C" "r.(?)" "p.(Leu1018=)" "" "0000556829" "00025856" "30" "3031" "0" "3031" "0" "c.3031T>C" "r.(?)" "p.(Leu1011=)" "" "0000556829" "00000656" "30" "3052" "0" "3052" "0" "c.3052T>C" "r.(?)" "p.(Leu1018=)" "" "0000556830" "00025856" "50" "2805" "0" "2805" "0" "c.2805A>C" "r.(?)" "p.(Glu935Asp)" "" "0000556830" "00000656" "50" "2826" "0" "2826" "0" "c.2826A>C" "r.(?)" "p.(Glu942Asp)" "" "0000556831" "00025856" "30" "2802" "0" "2802" "0" "c.2802G>A" "r.(?)" "p.(Glu934=)" "" "0000556831" "00000656" "30" "2823" "0" "2823" "0" "c.2823G>A" "r.(?)" "p.(Glu941=)" "" "0000556832" "00025856" "30" "2649" "0" "2649" "0" "c.2649G>A" "r.(?)" "p.(Ser883=)" "" "0000556832" "00000656" "30" "2670" "0" "2670" "0" "c.2670G>A" "r.(?)" "p.(Ser890=)" "" "0000556833" "00025856" "30" "2648" "0" "2648" "0" "c.2648C>T" "r.(?)" "p.(Ser883Leu)" "" "0000556833" "00000656" "30" "2669" "0" "2669" "0" "c.2669C>T" "r.(?)" "p.(Ser890Leu)" "" "0000556835" "00025856" "30" "2555" "0" "2555" "0" "c.2555A>G" "r.(?)" "p.(Glu852Gly)" "" "0000556835" "00000656" "30" "2576" "0" "2576" "0" "c.2576A>G" "r.(?)" "p.(Glu859Gly)" "" "0000556836" "00025856" "10" "2412" "-9" "2412" "-9" "c.2412-9C>A" "r.(=)" "p.(=)" "" "0000556836" "00000656" "10" "2433" "-9" "2433" "-9" "c.2433-9C>A" "r.(=)" "p.(=)" "" "0000556837" "00025856" "50" "2195" "0" "2195" "0" "c.2195C>T" "r.(?)" "p.(Ala732Val)" "" "0000556837" "00000656" "50" "2216" "0" "2216" "0" "c.2216C>T" "r.(?)" "p.(Ala739Val)" "" "0000556838" "00025856" "50" "2150" "0" "2150" "0" "c.2150A>G" "r.(?)" "p.(Asn717Ser)" "" "0000556838" "00000656" "50" "2171" "0" "2171" "0" "c.2171A>G" "r.(?)" "p.(Asn724Ser)" "" "0000556839" "00025856" "30" "2079" "0" "2079" "0" "c.2079C>T" "r.(?)" "p.(Phe693=)" "" "0000556839" "00000656" "30" "2100" "0" "2100" "0" "c.2100C>T" "r.(?)" "p.(Phe700=)" "" "0000556841" "00025856" "30" "2075" "0" "2075" "0" "c.2075C>T" "r.(?)" "p.(Ala692Val)" "" "0000556841" "00000656" "30" "2096" "0" "2096" "0" "c.2096C>T" "r.(?)" "p.(Ala699Val)" "" "0000556842" "00025856" "10" "2058" "30" "2058" "30" "c.2058+30C>T" "r.(=)" "p.(=)" "" "0000556842" "00000656" "10" "2079" "30" "2079" "30" "c.2079+30C>T" "r.(=)" "p.(=)" "" "0000556843" "00025856" "50" "1879" "0" "1879" "0" "c.1879G>A" "r.(?)" "p.(Gly627Ser)" "" "0000556843" "00000656" "50" "1900" "0" "1900" "0" "c.1900G>A" "r.(?)" "p.(Gly634Ser)" "" "0000556844" "00025856" "30" "1847" "0" "1847" "0" "c.1847C>G" "r.(?)" "p.(Ala616Gly)" "" "0000556844" "00000656" "30" "1868" "0" "1868" "0" "c.1868C>G" "r.(?)" "p.(Ala623Gly)" "" "0000556845" "00025856" "50" "1721" "0" "1721" "0" "c.1721A>T" "r.(?)" "p.(Glu574Val)" "" "0000556845" "00000656" "50" "1742" "0" "1742" "0" "c.1742A>T" "r.(?)" "p.(Glu581Val)" "" "0000556846" "00025856" "30" "1575" "8" "1575" "8" "c.1575+8del" "r.(=)" "p.(=)" "" "0000556846" "00000656" "30" "1596" "8" "1596" "8" "c.1596+8del" "r.(=)" "p.(=)" "" "0000556848" "00025856" "30" "1512" "0" "1512" "0" "c.1512C>T" "r.(?)" "p.(Ile504=)" "" "0000556848" "00000656" "30" "1533" "0" "1533" "0" "c.1533C>T" "r.(?)" "p.(Ile511=)" "" "0000556850" "00025856" "50" "1502" "0" "1502" "0" "c.1502G>A" "r.(?)" "p.(Arg501His)" "" "0000556850" "00000656" "50" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Arg508His)" "" "0000556851" "00025856" "30" "1440" "0" "1440" "0" "c.1440C>T" "r.(?)" "p.(Asn480=)" "" "0000556851" "00000656" "30" "1461" "0" "1461" "0" "c.1461C>T" "r.(?)" "p.(Asn487=)" "" "0000556852" "00025856" "30" "1440" "0" "1440" "0" "c.1440C>T" "r.(?)" "p.(Asn480=)" "" "0000556852" "00000656" "30" "1461" "0" "1461" "0" "c.1461C>T" "r.(?)" "p.(Asn487=)" "" "0000556853" "00025856" "10" "1419" "0" "1419" "0" "c.1419G>A" "r.(?)" "p.(Gln473=)" "" "0000556853" "00000656" "10" "1440" "0" "1440" "0" "c.1440G>A" "r.(?)" "p.(Gln480=)" "" "0000556854" "00025856" "30" "1413" "0" "1413" "0" "c.1413C>T" "r.(?)" "p.(Phe471=)" "" "0000556854" "00000656" "30" "1434" "0" "1434" "0" "c.1434C>T" "r.(?)" "p.(Phe478=)" "" "0000556855" "00025856" "50" "1402" "-12" "1402" "-12" "c.1402-12C>G" "r.(=)" "p.(=)" "" "0000556855" "00000656" "50" "1423" "-12" "1423" "-12" "c.1423-12C>G" "r.(=)" "p.(=)" "" "0000556856" "00025856" "30" "1401" "10" "1401" "10" "c.1401+10G>A" "r.(=)" "p.(=)" "" "0000556856" "00000656" "30" "1422" "10" "1422" "10" "c.1422+10G>A" "r.(=)" "p.(=)" "" "0000556857" "00025856" "50" "1358" "0" "1358" "0" "c.1358C>G" "r.(?)" "p.(Ser453Cys)" "" "0000556857" "00000656" "50" "1379" "0" "1379" "0" "c.1379C>G" "r.(?)" "p.(Ser460Cys)" "" "0000556858" "00025856" "30" "1077" "0" "1077" "0" "c.1077C>T" "r.(?)" "p.(Ile359=)" "" "0000556858" "00000656" "30" "1098" "0" "1098" "0" "c.1098C>T" "r.(?)" "p.(Ile366=)" "" "0000556859" "00025856" "30" "1034" "-12" "1034" "-12" "c.1034-12T>G" "r.(=)" "p.(=)" "" "0000556859" "00000656" "30" "1055" "-12" "1055" "-12" "c.1055-12T>G" "r.(=)" "p.(=)" "" "0000556860" "00025856" "50" "995" "0" "995" "0" "c.995C>G" "r.(?)" "p.(Ala332Gly)" "" "0000556860" "00000656" "50" "1016" "0" "1016" "0" "c.1016C>G" "r.(?)" "p.(Ala339Gly)" "" "0000556861" "00025856" "50" "935" "0" "935" "0" "c.935A>G" "r.(?)" "p.(Asn312Ser)" "" "0000556861" "00000656" "50" "956" "0" "956" "0" "c.956A>G" "r.(?)" "p.(Asn319Ser)" "" "0000556863" "00025856" "30" "914" "0" "914" "0" "c.914A>G" "r.(?)" "p.(Asn305Ser)" "" "0000556863" "00000656" "30" "935" "0" "935" "0" "c.935A>G" "r.(?)" "p.(Asn312Ser)" "" "0000556864" "00025856" "30" "792" "0" "792" "0" "c.792T>C" "r.(?)" "p.(Tyr264=)" "" "0000556864" "00000656" "30" "813" "0" "813" "0" "c.813T>C" "r.(?)" "p.(Tyr271=)" "" "0000556865" "00025856" "30" "792" "0" "792" "0" "c.792T>C" "r.(?)" "p.(Tyr264=)" "" "0000556865" "00000656" "30" "813" "0" "813" "0" "c.813T>C" "r.(?)" "p.(Tyr271=)" "" "0000556866" "00025856" "30" "791" "-12" "791" "-12" "c.791-12C>T" "r.(=)" "p.(=)" "" "0000556866" "00000656" "30" "812" "-12" "812" "-12" "c.812-12C>T" "r.(=)" "p.(=)" "" "0000556867" "00025856" "30" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Cys)" "" "0000556867" "00000656" "30" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Cys)" "" "0000556868" "00025856" "30" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Cys)" "" "0000556868" "00000656" "30" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Cys)" "" "0000556869" "00025856" "30" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Cys)" "" "0000556869" "00000656" "30" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Cys)" "" "0000556870" "00025856" "30" "690" "0" "690" "0" "c.690C>T" "r.(?)" "p.(Asn230=)" "" "0000556870" "00000656" "30" "711" "0" "711" "0" "c.711C>T" "r.(?)" "p.(Asn237=)" "" "0000556871" "00025856" "30" "530" "20" "530" "20" "c.530+20C>T" "r.(=)" "p.(=)" "" "0000556871" "00000656" "30" "530" "20" "530" "20" "c.530+20C>T" "r.(=)" "p.(=)" "" "0000556872" "00025856" "30" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Ala158Thr)" "" "0000556872" "00000656" "30" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Ala158Thr)" "" "0000556873" "00025856" "30" "429" "0" "429" "0" "c.429G>A" "r.(?)" "p.(Lys143=)" "" "0000556873" "00000656" "30" "429" "0" "429" "0" "c.429G>A" "r.(?)" "p.(Lys143=)" "" "0000556874" "00025856" "30" "346" "-9" "346" "-9" "c.346-9dup" "r.(=)" "p.(=)" "" "0000556874" "00000656" "30" "346" "-9" "346" "-9" "c.346-9dup" "r.(=)" "p.(=)" "" "0000556876" "00025856" "10" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Asn97=)" "" "0000556876" "00000656" "10" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Asn97=)" "" "0000556877" "00025856" "50" "232" "0" "232" "0" "c.232A>G" "r.(?)" "p.(Lys78Glu)" "" "0000556877" "00000656" "50" "232" "0" "232" "0" "c.232A>G" "r.(?)" "p.(Lys78Glu)" "" "0000556878" "00025856" "50" "161" "0" "161" "0" "c.161A>G" "r.(?)" "p.(Lys54Arg)" "" "0000556878" "00000656" "50" "161" "0" "161" "0" "c.161A>G" "r.(?)" "p.(Lys54Arg)" "" "0000556879" "00025856" "10" "135" "0" "135" "0" "c.135C>T" "r.(?)" "p.(Phe45=)" "" "0000556879" "00000656" "10" "135" "0" "135" "0" "c.135C>T" "r.(?)" "p.(Phe45=)" "" "0000556881" "00025856" "10" "12" "0" "12" "0" "c.12G>A" "r.(?)" "p.(Lys4=)" "" "0000556881" "00000656" "10" "12" "0" "12" "0" "c.12G>A" "r.(?)" "p.(Lys4=)" "" "0000556882" "00025856" "30" "12" "0" "12" "0" "c.12G>A" "r.(?)" "p.(Lys4=)" "" "0000556882" "00000656" "30" "12" "0" "12" "0" "c.12G>A" "r.(?)" "p.(Lys4=)" "" "0000615726" "00025856" "30" "5691" "0" "5691" "0" "c.5691C>T" "r.(?)" "p.(Asn1897=)" "" "0000615726" "00000656" "30" "5712" "0" "5712" "0" "c.5712C>T" "r.(?)" "p.(Asn1904=)" "" "0000615727" "00025856" "10" "5676" "0" "5676" "0" "c.5676G>C" "r.(?)" "p.(Glu1892Asp)" "" "0000615727" "00000656" "10" "5697" "0" "5697" "0" "c.5697G>C" "r.(?)" "p.(Glu1899Asp)" "" "0000615728" "00025856" "30" "5336" "0" "5336" "0" "c.5336C>A" "r.(?)" "p.(Thr1779Lys)" "" "0000615728" "00000656" "30" "5357" "0" "5357" "0" "c.5357C>A" "r.(?)" "p.(Thr1786Lys)" "" "0000615729" "00025856" "30" "5296" "-4" "5296" "-4" "c.5296-4C>T" "r.spl?" "p.?" "" "0000615729" "00000656" "30" "5317" "-4" "5317" "-4" "c.5317-4C>T" "r.spl?" "p.?" "" "0000615730" "00025856" "50" "5140" "0" "5140" "0" "c.5140G>A" "r.(?)" "p.(Ala1714Thr)" "" "0000615730" "00000656" "50" "5161" "0" "5161" "0" "c.5161G>A" "r.(?)" "p.(Ala1721Thr)" "" "0000615731" "00025856" "50" "5095" "0" "5095" "0" "c.5095G>A" "r.(?)" "p.(Ala1699Thr)" "" "0000615731" "00000656" "50" "5116" "0" "5116" "0" "c.5116G>A" "r.(?)" "p.(Ala1706Thr)" "" "0000615732" "00025856" "30" "4848" "0" "4848" "0" "c.4848T>C" "r.(?)" "p.(Ala1616=)" "" "0000615732" "00000656" "30" "4869" "0" "4869" "0" "c.4869T>C" "r.(?)" "p.(Ala1623=)" "" "0000615733" "00025856" "30" "4774" "0" "4774" "0" "c.4774A>C" "r.(?)" "p.(Arg1592=)" "" "0000615733" "00000656" "30" "4795" "0" "4795" "0" "c.4795A>C" "r.(?)" "p.(Arg1599=)" "" "0000615734" "00025856" "10" "4770" "0" "4770" "0" "c.4770G>A" "r.(?)" "p.(Lys1590=)" "" "0000615734" "00000656" "10" "4791" "0" "4791" "0" "c.4791G>A" "r.(?)" "p.(Lys1597=)" "" "0000615735" "00025856" "30" "4659" "0" "4659" "0" "c.4659C>T" "r.(?)" "p.(Asp1553=)" "" "0000615735" "00000656" "30" "4680" "0" "4680" "0" "c.4680C>T" "r.(?)" "p.(Asp1560=)" "" "0000615736" "00025856" "30" "4545" "0" "4545" "0" "c.4545C>T" "r.(?)" "p.(Asp1515=)" "" "0000615736" "00000656" "30" "4566" "0" "4566" "0" "c.4566C>T" "r.(?)" "p.(Asp1522=)" "" "0000615737" "00025856" "30" "4293" "0" "4293" "0" "c.4293C>T" "r.(?)" "p.(Asp1431=)" "" "0000615737" "00000656" "30" "4314" "0" "4314" "0" "c.4314C>T" "r.(?)" "p.(Asp1438=)" "" "0000615738" "00025856" "50" "4016" "0" "4016" "0" "c.4016G>A" "r.(?)" "p.(Arg1339His)" "" "0000615738" "00000656" "50" "4037" "0" "4037" "0" "c.4037G>A" "r.(?)" "p.(Arg1346His)" "" "0000615739" "00025856" "30" "3930" "0" "3930" "0" "c.3930G>A" "r.(?)" "p.(Val1310=)" "" "0000615739" "00000656" "30" "3951" "0" "3951" "0" "c.3951G>A" "r.(?)" "p.(Val1317=)" "" "0000615740" "00025856" "30" "3861" "0" "3861" "0" "c.3861T>C" "r.(?)" "p.(Asn1287=)" "" "0000615740" "00000656" "30" "3882" "0" "3882" "0" "c.3882T>C" "r.(?)" "p.(Asn1294=)" "" "0000615741" "00025856" "10" "3828" "0" "3828" "0" "c.3828G>A" "r.(?)" "p.(Ala1276=)" "" "0000615741" "00000656" "10" "3849" "0" "3849" "0" "c.3849G>A" "r.(?)" "p.(Ala1283=)" "" "0000615742" "00025856" "50" "3766" "0" "3768" "0" "c.3766_3768del" "r.(?)" "p.(Lys1256del)" "" "0000615742" "00000656" "50" "3787" "0" "3789" "0" "c.3787_3789del" "r.(?)" "p.(Lys1263del)" "" "0000615743" "00025856" "30" "3501" "0" "3501" "0" "c.3501G>A" "r.(?)" "p.(Glu1167=)" "" "0000615743" "00000656" "30" "3522" "0" "3522" "0" "c.3522G>A" "r.(?)" "p.(Glu1174=)" "" "0000615744" "00025856" "30" "3375" "0" "3375" "0" "c.3375G>C" "r.(?)" "p.(Glu1125Asp)" "" "0000615744" "00000656" "30" "3396" "0" "3396" "0" "c.3396G>C" "r.(?)" "p.(Glu1132Asp)" "" "0000615745" "00025856" "10" "3102" "0" "3102" "0" "c.3102T>C" "r.(?)" "p.(Ser1034=)" "" "0000615745" "00000656" "10" "3123" "0" "3123" "0" "c.3123T>C" "r.(?)" "p.(Ser1041=)" "" "0000615746" "00025856" "50" "2467" "0" "2467" "0" "c.2467T>A" "r.(?)" "p.(Cys823Ser)" "" "0000615746" "00000656" "50" "2488" "0" "2488" "0" "c.2488T>A" "r.(?)" "p.(Cys830Ser)" "" "0000615747" "00025856" "30" "2075" "0" "2075" "0" "c.2075C>T" "r.(?)" "p.(Ala692Val)" "" "0000615747" "00000656" "30" "2096" "0" "2096" "0" "c.2096C>T" "r.(?)" "p.(Ala699Val)" "" "0000615748" "00025856" "30" "2049" "0" "2049" "0" "c.2049C>T" "r.(?)" "p.(His683=)" "" "0000615748" "00000656" "30" "2070" "0" "2070" "0" "c.2070C>T" "r.(?)" "p.(His690=)" "" "0000615749" "00025856" "30" "1953" "0" "1953" "0" "c.1953C>T" "r.(?)" "p.(Arg651=)" "" "0000615749" "00000656" "30" "1974" "0" "1974" "0" "c.1974C>T" "r.(?)" "p.(Arg658=)" "" "0000615750" "00025856" "30" "1502" "0" "1502" "0" "c.1502G>A" "r.(?)" "p.(Arg501His)" "" "0000615750" "00000656" "30" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Arg508His)" "" "0000615751" "00025856" "30" "1402" "-13" "1402" "-13" "c.1402-13G>A" "r.(=)" "p.(=)" "" "0000615751" "00000656" "30" "1423" "-13" "1423" "-13" "c.1423-13G>A" "r.(=)" "p.(=)" "" "0000615752" "00025856" "50" "872" "0" "872" "0" "c.872C>A" "r.(?)" "p.(Ala291Asp)" "" "0000615752" "00000656" "50" "893" "0" "893" "0" "c.893C>A" "r.(?)" "p.(Ala298Asp)" "" "0000615753" "00025856" "50" "204" "0" "204" "0" "c.204G>C" "r.(?)" "p.(Lys68Asn)" "" "0000615753" "00000656" "50" "204" "0" "204" "0" "c.204G>C" "r.(?)" "p.(Lys68Asn)" "" "0000623376" "00025856" "30" "5757" "0" "5757" "0" "c.5757C>T" "r.(?)" "p.(Arg1919=)" "" "0000623376" "00000656" "30" "5778" "0" "5778" "0" "c.5778C>T" "r.(?)" "p.(Arg1926=)" "" "0000623377" "00025856" "10" "5504" "8" "5504" "8" "c.5504+8G>C" "r.(=)" "p.(=)" "" "0000623377" "00000656" "10" "5525" "8" "5525" "8" "c.5525+8G>C" "r.(=)" "p.(=)" "" "0000623378" "00025856" "30" "5271" "0" "5271" "0" "c.5271C>A" "r.(?)" "p.(Asp1757Glu)" "" "0000623378" "00000656" "30" "5292" "0" "5292" "0" "c.5292C>A" "r.(?)" "p.(Asp1764Glu)" "" "0000623379" "00025856" "50" "4822" "0" "4822" "0" "c.4822G>A" "r.(?)" "p.(Glu1608Lys)" "" "0000623379" "00000656" "50" "4843" "0" "4843" "0" "c.4843G>A" "r.(?)" "p.(Glu1615Lys)" "" "0000623380" "00025856" "30" "3897" "0" "3897" "0" "c.3897C>T" "r.(?)" "p.(Ala1299=)" "" "0000623380" "00000656" "30" "3918" "0" "3918" "0" "c.3918C>T" "r.(?)" "p.(Ala1306=)" "" "0000623381" "00025856" "30" "471" "0" "471" "0" "c.471C>T" "r.(?)" "p.(Ile157=)" "" "0000623381" "00000656" "30" "471" "0" "471" "0" "c.471C>T" "r.(?)" "p.(Ile157=)" "" "0000623382" "00025856" "50" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Glu98Lys)" "" "0000623382" "00000656" "50" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Glu98Lys)" "" "0000649236" "00025856" "50" "5273" "0" "5273" "0" "c.5273G>A" "r.(?)" "p.(Arg1758Gln)" "" "0000649236" "00000656" "50" "5294" "0" "5294" "0" "c.5294G>A" "r.(?)" "p.(Arg1765Gln)" "" "0000649237" "00025856" "30" "3859" "-206" "3859" "-206" "c.3859-206C>T" "r.(=)" "p.(=)" "" "0000649237" "00000656" "30" "3880" "-206" "3880" "-206" "c.3880-206C>T" "r.(=)" "p.(=)" "" "0000649238" "00025856" "30" "3859" "-479" "3859" "-479" "c.3859-479C>T" "r.(=)" "p.(=)" "" "0000649238" "00000656" "30" "3880" "-479" "3880" "-479" "c.3880-479C>T" "r.(=)" "p.(=)" "" "0000649239" "00025856" "50" "1502" "0" "1502" "0" "c.1502G>A" "r.(?)" "p.(Arg501His)" "" "0000649239" "00000656" "50" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Arg508His)" "" "0000657741" "00025856" "30" "5370" "0" "5370" "0" "c.5370C>G" "r.(?)" "p.(Leu1790=)" "" "0000657741" "00000656" "30" "5391" "0" "5391" "0" "c.5391C>G" "r.(?)" "p.(Leu1797=)" "" "0000657742" "00025856" "30" "5277" "0" "5277" "0" "c.5277C>T" "r.(?)" "p.(Val1759=)" "" "0000657742" "00000656" "30" "5298" "0" "5298" "0" "c.5298C>T" "r.(?)" "p.(Val1766=)" "" "0000657743" "00025856" "50" "4673" "0" "4673" "0" "c.4673C>T" "r.(?)" "p.(Thr1558Met)" "" "0000657743" "00000656" "50" "4694" "0" "4694" "0" "c.4694C>T" "r.(?)" "p.(Thr1565Met)" "" "0000657744" "00025856" "50" "4604" "0" "4604" "0" "c.4604G>A" "r.(?)" "p.(Arg1535Gln)" "" "0000657744" "00000656" "50" "4625" "0" "4625" "0" "c.4625G>A" "r.(?)" "p.(Arg1542Gln)" "" "0000657745" "00025856" "30" "2997" "13" "2997" "13" "c.2997+13C>T" "r.(=)" "p.(=)" "" "0000657745" "00000656" "30" "3018" "13" "3018" "13" "c.3018+13C>T" "r.(=)" "p.(=)" "" "0000657746" "00025856" "30" "2412" "-352" "2412" "-352" "c.2412-352A>G" "r.(=)" "p.(=)" "" "0000657746" "00000656" "30" "2433" "-352" "2433" "-352" "c.2433-352A>G" "r.(=)" "p.(=)" "" "0000657747" "00025856" "30" "2049" "0" "2049" "0" "c.2049C>T" "r.(?)" "p.(His683=)" "" "0000657747" "00000656" "30" "2070" "0" "2070" "0" "c.2070C>T" "r.(?)" "p.(His690=)" "" "0000657748" "00025856" "30" "1503" "0" "1503" "0" "c.1503C>G" "r.(?)" "p.(Arg501=)" "" "0000657748" "00000656" "30" "1524" "0" "1524" "0" "c.1524C>G" "r.(?)" "p.(Arg508=)" "" "0000657749" "00025856" "30" "727" "-164" "727" "-164" "c.727-164G>A" "r.(=)" "p.(=)" "" "0000657749" "00000656" "30" "748" "-164" "748" "-164" "c.748-164G>A" "r.(=)" "p.(=)" "" "0000657750" "00025856" "30" "727" "-318" "727" "-318" "c.727-318G>A" "r.(=)" "p.(=)" "" "0000657750" "00000656" "30" "748" "-318" "748" "-318" "c.748-318G>A" "r.(=)" "p.(=)" "" "0000666201" "00000656" "70" "1054" "1" "1054" "1" "c.1054+1G>A" "r.spl" "p.?" "" "0000669313" "00025856" "30" "3859" "-206" "3859" "-206" "c.3859-206C>T" "r.(=)" "p.(=)" "" "0000669313" "00000656" "30" "3880" "-206" "3880" "-206" "c.3880-206C>T" "r.(=)" "p.(=)" "" "0000669314" "00025856" "30" "3859" "-479" "3859" "-479" "c.3859-479C>T" "r.(=)" "p.(=)" "" "0000669314" "00000656" "30" "3880" "-479" "3880" "-479" "c.3880-479C>T" "r.(=)" "p.(=)" "" "0000680394" "00025856" "30" "5528" "0" "5528" "0" "c.5528C>T" "r.(?)" "p.(Ser1843Leu)" "" "0000680394" "00000656" "30" "5549" "0" "5549" "0" "c.5549C>T" "r.(?)" "p.(Ser1850Leu)" "" "0000680395" "00025856" "30" "5226" "0" "5226" "0" "c.5226G>C" "r.(?)" "p.(Glu1742Asp)" "" "0000680395" "00000656" "30" "5247" "0" "5247" "0" "c.5247G>C" "r.(?)" "p.(Glu1749Asp)" "" "0000680396" "00025856" "50" "4255" "0" "4255" "0" "c.4255G>C" "r.(?)" "p.(Glu1419Gln)" "" "0000680396" "00000656" "50" "4276" "0" "4276" "0" "c.4276G>C" "r.(?)" "p.(Glu1426Gln)" "" "0000680397" "00025856" "30" "3964" "-5" "3964" "-5" "c.3964-5T>C" "r.spl?" "p.?" "" "0000680397" "00000656" "30" "3985" "-5" "3985" "-5" "c.3985-5T>C" "r.spl?" "p.?" "" "0000680398" "00025856" "30" "3873" "0" "3873" "0" "c.3873C>T" "r.(?)" "p.(Ser1291=)" "" "0000680398" "00000656" "30" "3894" "0" "3894" "0" "c.3894C>T" "r.(?)" "p.(Ser1298=)" "" "0000680399" "00025856" "70" "3766" "0" "3768" "0" "c.3766_3768del" "r.(?)" "p.(Lys1256del)" "" "0000680399" "00000656" "70" "3787" "0" "3789" "0" "c.3787_3789del" "r.(?)" "p.(Lys1263del)" "" "0000680400" "00025856" "30" "3562" "0" "3562" "0" "c.3562C>T" "r.(?)" "p.(Arg1188Trp)" "" "0000680400" "00000656" "30" "3583" "0" "3583" "0" "c.3583C>T" "r.(?)" "p.(Arg1195Trp)" "" "0000680401" "00025856" "30" "3531" "0" "3531" "0" "c.3531G>A" "r.(?)" "p.(Thr1177=)" "" "0000680401" "00000656" "30" "3552" "0" "3552" "0" "c.3552G>A" "r.(?)" "p.(Thr1184=)" "" "0000680402" "00025856" "30" "3122" "-228" "3122" "-228" "c.3122-228T>G" "r.(=)" "p.(=)" "" "0000680402" "00000656" "30" "3143" "-228" "3143" "-228" "c.3143-228T>G" "r.(=)" "p.(=)" "" "0000680403" "00025856" "30" "3102" "0" "3102" "0" "c.3102T>C" "r.(?)" "p.(Ser1034=)" "" "0000680403" "00000656" "30" "3123" "0" "3123" "0" "c.3123T>C" "r.(?)" "p.(Ser1041=)" "" "0000680404" "00025856" "30" "1863" "0" "1863" "0" "c.1863C>T" "r.(?)" "p.(Asp621=)" "" "0000680404" "00000656" "30" "1884" "0" "1884" "0" "c.1884C>T" "r.(?)" "p.(Asp628=)" "" "0000680405" "00025856" "30" "1078" "0" "1078" "0" "c.1078G>A" "r.(?)" "p.(Val360Ile)" "" "0000680405" "00000656" "30" "1099" "0" "1099" "0" "c.1099G>A" "r.(?)" "p.(Val367Ile)" "" "0000680406" "00025856" "30" "1077" "0" "1077" "0" "c.1077C>T" "r.(?)" "p.(Ile359=)" "" "0000680406" "00000656" "30" "1098" "0" "1098" "0" "c.1098C>T" "r.(?)" "p.(Ile366=)" "" "0000680407" "00025856" "30" "346" "-16" "346" "-16" "c.346-16G>C" "r.(=)" "p.(=)" "" "0000680407" "00000656" "30" "346" "-16" "346" "-16" "c.346-16G>C" "r.(=)" "p.(=)" "" "0000680408" "00025856" "50" "232" "0" "232" "0" "c.232A>G" "r.(?)" "p.(Lys78Glu)" "" "0000680408" "00000656" "50" "232" "0" "232" "0" "c.232A>G" "r.(?)" "p.(Lys78Glu)" "" "0000680409" "00025856" "30" "93" "0" "93" "0" "c.93C>T" "r.(?)" "p.(Ala31=)" "" "0000680409" "00000656" "30" "93" "0" "93" "0" "c.93C>T" "r.(?)" "p.(Ala31=)" "" "0000680410" "00025856" "30" "57" "0" "57" "0" "c.57C>T" "r.(?)" "p.(Asn19=)" "" "0000680410" "00000656" "30" "57" "0" "57" "0" "c.57C>T" "r.(?)" "p.(Asn19=)" "" "0000691942" "00025856" "30" "5787" "-4707" "5787" "-4707" "c.5787-4707C>G" "r.(=)" "p.(=)" "" "0000691942" "00000656" "30" "5819" "0" "5819" "0" "c.5819C>G" "r.(?)" "p.(Pro1940Arg)" "" "0000691943" "00025856" "30" "4954" "-14" "4954" "-14" "c.4954-14G>C" "r.(=)" "p.(=)" "" "0000691943" "00000656" "30" "4975" "-14" "4975" "-14" "c.4975-14G>C" "r.(=)" "p.(=)" "" "0000691944" "00025856" "30" "4117" "-14" "4117" "-14" "c.4117-14C>T" "r.(=)" "p.(=)" "" "0000691944" "00000656" "30" "4138" "-14" "4138" "-14" "c.4138-14C>T" "r.(=)" "p.(=)" "" "0000691945" "00025856" "10" "3858" "16" "3858" "16" "c.3858+16G>C" "r.(=)" "p.(=)" "" "0000691945" "00000656" "10" "3879" "16" "3879" "16" "c.3879+16G>C" "r.(=)" "p.(=)" "" "0000691946" "00025856" "50" "3766" "0" "3766" "0" "c.3766A>C" "r.(?)" "p.(Lys1256Gln)" "" "0000691946" "00000656" "50" "3787" "0" "3787" "0" "c.3787A>C" "r.(?)" "p.(Lys1263Gln)" "" "0000691947" "00025856" "50" "3746" "0" "3748" "0" "c.3746_3748del" "r.(?)" "p.(Glu1249del)" "" "0000691947" "00000656" "50" "3767" "0" "3769" "0" "c.3767_3769del" "r.(?)" "p.(Glu1256del)" "" "0000691948" "00025856" "30" "3294" "-145" "3294" "-145" "c.3294-145C>T" "r.(=)" "p.(=)" "" "0000691948" "00000656" "30" "3315" "-145" "3315" "-145" "c.3315-145C>T" "r.(=)" "p.(=)" "" "0000691949" "00025856" "30" "2521" "-105" "2521" "-105" "c.2521-105G>A" "r.(=)" "p.(=)" "" "0000691949" "00000656" "30" "2542" "-105" "2542" "-105" "c.2542-105G>A" "r.(=)" "p.(=)" "" "0000691950" "00025856" "30" "1575" "98" "1575" "98" "c.1575+98A>G" "r.(=)" "p.(=)" "" "0000691950" "00000656" "30" "1596" "98" "1596" "98" "c.1596+98A>G" "r.(=)" "p.(=)" "" "0000691951" "00025856" "30" "890" "-281" "890" "-281" "c.890-281C>T" "r.(=)" "p.(=)" "" "0000691951" "00000656" "30" "911" "-281" "911" "-281" "c.911-281C>T" "r.(=)" "p.(=)" "" "0000691952" "00025856" "30" "791" "-153" "791" "-153" "c.791-153G>A" "r.(=)" "p.(=)" "" "0000691952" "00000656" "30" "812" "-153" "812" "-153" "c.812-153G>A" "r.(=)" "p.(=)" "" "0000725461" "00025856" "30" "5529" "0" "5529" "0" "c.5529G>A" "r.(?)" "p.(Ser1843=)" "" "0000725461" "00000656" "30" "5550" "0" "5550" "0" "c.5550G>A" "r.(?)" "p.(Ser1850=)" "" "0000725462" "00025856" "30" "5295" "344" "5295" "344" "c.5295+344G>A" "r.(=)" "p.(=)" "" "0000725462" "00000656" "30" "5316" "344" "5316" "344" "c.5316+344G>A" "r.(=)" "p.(=)" "" "0000725463" "00025856" "30" "5160" "0" "5160" "0" "c.5160C>T" "r.(?)" "p.(Ser1720=)" "" "0000725463" "00000656" "30" "5181" "0" "5181" "0" "c.5181C>T" "r.(?)" "p.(Ser1727=)" "" "0000725464" "00025856" "30" "4117" "-13" "4117" "-13" "c.4117-13G>A" "r.(=)" "p.(=)" "" "0000725464" "00000656" "30" "4138" "-13" "4138" "-13" "c.4138-13G>A" "r.(=)" "p.(=)" "" "0000725465" "00025856" "30" "3122" "-59" "3122" "-59" "c.3122-59T>C" "r.(=)" "p.(=)" "" "0000725465" "00000656" "30" "3143" "-59" "3143" "-59" "c.3143-59T>C" "r.(=)" "p.(=)" "" "0000725466" "00025856" "30" "2961" "0" "2961" "0" "c.2961C>T" "r.(?)" "p.(Ile987=)" "" "0000725466" "00000656" "30" "2982" "0" "2982" "0" "c.2982C>T" "r.(?)" "p.(Ile994=)" "" "0000725467" "00025856" "30" "2802" "0" "2802" "0" "c.2802G>A" "r.(?)" "p.(Glu934=)" "" "0000725467" "00000656" "30" "2823" "0" "2823" "0" "c.2823G>A" "r.(?)" "p.(Glu941=)" "" "0000725468" "00025856" "30" "2412" "-9" "2412" "-9" "c.2412-9C>G" "r.(=)" "p.(=)" "" "0000725468" "00000656" "30" "2433" "-9" "2433" "-9" "c.2433-9C>G" "r.(=)" "p.(=)" "" "0000725469" "00025856" "30" "2005" "0" "2005" "0" "c.2005C>T" "r.(?)" "p.(Arg669Cys)" "" "0000725469" "00000656" "30" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Arg676Cys)" "" "0000725470" "00025856" "30" "1575" "286" "1575" "286" "c.1575+286G>T" "r.(=)" "p.(=)" "" "0000725470" "00000656" "30" "1596" "286" "1596" "286" "c.1596+286G>T" "r.(=)" "p.(=)" "" "0000725471" "00025856" "30" "1575" "282" "1575" "282" "c.1575+282C>T" "r.(=)" "p.(=)" "" "0000725471" "00000656" "30" "1596" "282" "1596" "282" "c.1596+282C>T" "r.(=)" "p.(=)" "" "0000725472" "00025856" "30" "1575" "7" "1575" "7" "c.1575+7G>A" "r.(=)" "p.(=)" "" "0000725472" "00000656" "30" "1596" "7" "1596" "7" "c.1596+7G>A" "r.(=)" "p.(=)" "" "0000725473" "00025856" "30" "790" "373" "790" "373" "c.790+373A>G" "r.(=)" "p.(=)" "" "0000725473" "00000656" "30" "811" "373" "811" "373" "c.811+373A>G" "r.(=)" "p.(=)" "" "0000725474" "00025856" "50" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Ser85Phe)" "" "0000725474" "00000656" "50" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Ser85Phe)" "" "0000736497" "00000656" "90" "4599" "3" "4599" "3" "c.4599+3A>C" "r.4387_4599del" "p.?" "" "0000807081" "00025856" "30" "5691" "0" "5691" "0" "c.5691C>T" "r.(?)" "p.(Asn1897=)" "" "0000807081" "00000656" "30" "5712" "0" "5712" "0" "c.5712C>T" "r.(?)" "p.(Asn1904=)" "" "0000807082" "00025856" "30" "5595" "0" "5595" "0" "c.5595C>T" "r.(?)" "p.(Ala1865=)" "" "0000807082" "00000656" "30" "5616" "0" "5616" "0" "c.5616C>T" "r.(?)" "p.(Ala1872=)" "" "0000807083" "00025856" "30" "5370" "0" "5370" "0" "c.5370C>G" "r.(?)" "p.(Leu1790=)" "" "0000807083" "00000656" "30" "5391" "0" "5391" "0" "c.5391C>G" "r.(?)" "p.(Leu1797=)" "" "0000807084" "00025856" "50" "5353" "0" "5353" "0" "c.5353A>T" "r.(?)" "p.(Ser1785Cys)" "" "0000807084" "00000656" "50" "5374" "0" "5374" "0" "c.5374A>T" "r.(?)" "p.(Ser1792Cys)" "" "0000807085" "00025856" "30" "4797" "0" "4797" "0" "c.4797C>T" "r.(?)" "p.(His1599=)" "" "0000807085" "00000656" "30" "4818" "0" "4818" "0" "c.4818C>T" "r.(?)" "p.(His1606=)" "" "0000807086" "00025856" "90" "4578" "1" "4578" "1" "c.4578+1G>A" "r.spl?" "p.?" "" "0000807086" "00000656" "90" "4599" "1" "4599" "1" "c.4599+1G>A" "r.spl?" "p.?" "" "0000807087" "00025856" "30" "4365" "9" "4365" "9" "c.4365+9C>T" "r.(=)" "p.(=)" "" "0000807087" "00000656" "30" "4386" "9" "4386" "9" "c.4386+9C>T" "r.(=)" "p.(=)" "" "0000807088" "00025856" "30" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Ala1414Thr)" "" "0000807088" "00000656" "30" "4261" "0" "4261" "0" "c.4261G>A" "r.(?)" "p.(Ala1421Thr)" "" "0000807089" "00025856" "50" "3352" "0" "3352" "0" "c.3352G>T" "r.(?)" "p.(Gly1118Cys)" "" "0000807089" "00000656" "50" "3373" "0" "3373" "0" "c.3373G>T" "r.(?)" "p.(Gly1125Cys)" "" "0000807090" "00025856" "30" "2802" "0" "2802" "0" "c.2802G>A" "r.(?)" "p.(Glu934=)" "" "0000807090" "00000656" "30" "2823" "0" "2823" "0" "c.2823G>A" "r.(?)" "p.(Glu941=)" "" "0000807091" "00025856" "30" "2733" "0" "2733" "0" "c.2733G>A" "r.(?)" "p.(Val911=)" "" "0000807091" "00000656" "30" "2754" "0" "2754" "0" "c.2754G>A" "r.(?)" "p.(Val918=)" "" "0000807092" "00025856" "30" "1575" "7" "1575" "7" "c.1575+7G>A" "r.(=)" "p.(=)" "" "0000807092" "00000656" "30" "1596" "7" "1596" "7" "c.1596+7G>A" "r.(=)" "p.(=)" "" "0000807093" "00025856" "30" "720" "0" "720" "0" "c.720A>T" "r.(?)" "p.(Ser240=)" "" "0000807093" "00000656" "30" "741" "0" "741" "0" "c.741A>T" "r.(?)" "p.(Ser247=)" "" "0000807094" "00025856" "30" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Ala158Thr)" "" "0000807094" "00000656" "30" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Ala158Thr)" "" "0000807095" "00025856" "30" "465" "0" "465" "0" "c.465C>T" "r.(?)" "p.(Tyr155=)" "" "0000807095" "00000656" "30" "465" "0" "465" "0" "c.465C>T" "r.(?)" "p.(Tyr155=)" "" "0000807096" "00025856" "30" "57" "0" "57" "0" "c.57C>T" "r.(?)" "p.(Asn19=)" "" "0000807096" "00000656" "30" "57" "0" "57" "0" "c.57C>T" "r.(?)" "p.(Asn19=)" "" "0000831671" "00000656" "50" "4870" "0" "4870" "0" "c.4870G>T" "r.(?)" "p.(Ala1624Ser)" "" "0000831702" "00000656" "70" "3315" "-5" "3315" "-5" "c.3315-5G>A" "r.spl" "p.?" "" "0000831703" "00000656" "70" "5293" "0" "5293" "0" "c.5293C>T" "r.(?)" "p.(Arg1765Trp)" "" "0000831764" "00000656" "50" "161" "0" "161" "0" "c.161A>G" "r.(?)" "p.(Lys54Arg)" "" "0000831765" "00000656" "50" "1379" "0" "1379" "0" "c.1379C>G" "r.(?)" "p.(Ser460Cys)" "" "0000831766" "00000656" "50" "2216" "0" "2216" "0" "c.2216C>T" "r.(?)" "p.(Ala739Val)" "" "0000831767" "00000656" "50" "3583" "0" "3583" "0" "c.3583C>T" "r.(?)" "p.(Arg1195Trp)" "" "0000831768" "00000656" "50" "3787" "0" "3789" "0" "c.3787_3789del" "r.(?)" "p.(Lys1263del)" "" "0000831769" "00000656" "50" "3787" "0" "3789" "0" "c.3787_3789del" "r.(?)" "p.(Lys1263del)" "" "0000831770" "00000656" "50" "4756" "0" "4756" "0" "c.4756G>A" "r.(?)" "p.(Asp1586Asn)" "" "0000831771" "00000656" "50" "4882" "0" "4882" "0" "c.4882A>C" "r.(?)" "p.(Lys1628Gln)" "" "0000831772" "00000656" "50" "5267" "0" "5267" "0" "c.5267A>C" "r.(?)" "p.(Gln1756Pro)" "" "0000854286" "00025856" "50" "5692" "0" "5692" "0" "c.5692G>A" "r.(?)" "p.(Ala1898Thr)" "" "0000854286" "00000656" "50" "5713" "0" "5713" "0" "c.5713G>A" "r.(?)" "p.(Ala1905Thr)" "" "0000854287" "00025856" "50" "5585" "0" "5585" "0" "c.5585G>A" "r.(?)" "p.(Arg1862His)" "" "0000854287" "00000656" "50" "5606" "0" "5606" "0" "c.5606G>A" "r.(?)" "p.(Arg1869His)" "" "0000854288" "00025856" "30" "5529" "0" "5529" "0" "c.5529G>A" "r.(?)" "p.(Ser1843=)" "" "0000854288" "00000656" "30" "5550" "0" "5550" "0" "c.5550G>A" "r.(?)" "p.(Ser1850=)" "" "0000854289" "00025856" "30" "4680" "0" "4680" "0" "c.4680C>T" "r.(?)" "p.(Asp1560=)" "" "0000854289" "00000656" "30" "4701" "0" "4701" "0" "c.4701C>T" "r.(?)" "p.(Asp1567=)" "" "0000854290" "00025856" "30" "4365" "9" "4365" "9" "c.4365+9C>T" "r.(=)" "p.(=)" "" "0000854290" "00000656" "30" "4386" "9" "4386" "9" "c.4386+9C>T" "r.(=)" "p.(=)" "" "0000854291" "00025856" "50" "3932" "0" "3932" "0" "c.3932C>T" "r.(?)" "p.(Ala1311Val)" "" "0000854291" "00000656" "50" "3953" "0" "3953" "0" "c.3953C>T" "r.(?)" "p.(Ala1318Val)" "" "0000854292" "00025856" "30" "3816" "0" "3816" "0" "c.3816G>A" "r.(?)" "p.(Glu1272=)" "" "0000854292" "00000656" "30" "3837" "0" "3837" "0" "c.3837G>A" "r.(?)" "p.(Glu1279=)" "" "0000854293" "00025856" "30" "2998" "-18" "2998" "-17" "c.2998-18_2998-17del" "r.(=)" "p.(=)" "" "0000854293" "00000656" "30" "3019" "-18" "3019" "-17" "c.3019-18_3019-17del" "r.(=)" "p.(=)" "" "0000854294" "00025856" "30" "1575" "8" "1575" "8" "c.1575+8del" "r.(=)" "p.(=)" "" "0000854294" "00000656" "30" "1596" "8" "1596" "8" "c.1596+8del" "r.(=)" "p.(=)" "" "0000854295" "00025856" "30" "429" "0" "429" "0" "c.429G>A" "r.(?)" "p.(Lys143=)" "" "0000854295" "00000656" "30" "429" "0" "429" "0" "c.429G>A" "r.(?)" "p.(Lys143=)" "" "0000854296" "00025856" "10" "387" "0" "387" "0" "c.387A>G" "r.(?)" "p.(Lys129=)" "" "0000854296" "00000656" "10" "387" "0" "387" "0" "c.387A>G" "r.(?)" "p.(Lys129=)" "" "0000864315" "00025856" "50" "32045" "0" "32045" "0" "c.*26126G>A" "r.(=)" "p.(=)" "" "0000864315" "00000656" "50" "32105" "0" "32105" "0" "c.*26267G>A" "r.(=)" "p.(=)" "" "0000864316" "00025856" "50" "5574" "0" "5574" "0" "c.5574G>A" "r.(?)" "p.(Val1858=)" "" "0000864316" "00000656" "50" "5595" "0" "5595" "0" "c.5595G>A" "r.(?)" "p.(Val1865=)" "" "0000864317" "00025856" "30" "5295" "10" "5295" "10" "c.5295+10G>A" "r.(=)" "p.(=)" "" "0000864317" "00000656" "30" "5316" "10" "5316" "10" "c.5316+10G>A" "r.(=)" "p.(=)" "" "0000864318" "00025856" "30" "5275" "0" "5275" "0" "c.5275G>A" "r.(?)" "p.(Val1759Ile)" "" "0000864318" "00000656" "30" "5296" "0" "5296" "0" "c.5296G>A" "r.(?)" "p.(Val1766Ile)" "" "0000864319" "00025856" "50" "5234" "0" "5245" "0" "c.5234_5245del" "r.(?)" "p.(Leu1745_Glu1748del)" "" "0000864319" "00000656" "50" "5255" "0" "5266" "0" "c.5255_5266del" "r.(?)" "p.(Leu1752_Glu1755del)" "" "0000864320" "00025856" "30" "4578" "19" "4578" "19" "c.4578+19T>C" "r.(=)" "p.(=)" "" "0000864320" "00000656" "30" "4599" "19" "4599" "19" "c.4599+19T>C" "r.(=)" "p.(=)" "" "0000864321" "00025856" "10" "4522" "0" "4522" "0" "c.4522A>G" "r.(?)" "p.(Met1508Val)" "" "0000864321" "00000656" "10" "4543" "0" "4543" "0" "c.4543A>G" "r.(?)" "p.(Met1515Val)" "" "0000864322" "00025856" "50" "4510" "0" "4510" "0" "c.4510C>T" "r.(?)" "p.(Arg1504Trp)" "" "0000864322" "00000656" "50" "4531" "0" "4531" "0" "c.4531C>T" "r.(?)" "p.(Arg1511Trp)" "" "0000864323" "00025856" "30" "3928" "0" "3928" "0" "c.3928G>A" "r.(?)" "p.(Val1310Met)" "" "0000864323" "00000656" "30" "3949" "0" "3949" "0" "c.3949G>A" "r.(?)" "p.(Val1317Met)" "" "0000864324" "00025856" "30" "2226" "0" "2226" "0" "c.2226C>T" "r.(?)" "p.(Asp742=)" "" "0000864324" "00000656" "30" "2247" "0" "2247" "0" "c.2247C>T" "r.(?)" "p.(Asp749=)" "" "0000864325" "00025856" "10" "1419" "0" "1419" "0" "c.1419G>A" "r.(?)" "p.(Gln473=)" "" "0000864325" "00000656" "10" "1440" "0" "1440" "0" "c.1440G>A" "r.(?)" "p.(Gln480=)" "" "0000864326" "00025856" "30" "690" "0" "690" "0" "c.690C>T" "r.(?)" "p.(Asn230=)" "" "0000864326" "00000656" "30" "711" "0" "711" "0" "c.711C>T" "r.(?)" "p.(Asn237=)" "" "0000864327" "00025856" "30" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Ala158Thr)" "" "0000864327" "00000656" "30" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Ala158Thr)" "" "0000864328" "00025856" "10" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Pro151=)" "" "0000864328" "00000656" "10" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Pro151=)" "" "0000892548" "00025856" "50" "5776" "0" "5776" "0" "c.5776A>G" "r.(?)" "p.(Ser1926Gly)" "" "0000892548" "00000656" "50" "5797" "0" "5797" "0" "c.5797A>G" "r.(?)" "p.(Ser1933Gly)" "" "0000892549" "00025856" "30" "5336" "0" "5336" "0" "c.5336C>T" "r.(?)" "p.(Thr1779Met)" "" "0000892549" "00000656" "30" "5357" "0" "5357" "0" "c.5357C>T" "r.(?)" "p.(Thr1786Met)" "" "0000892550" "00025856" "30" "5277" "0" "5277" "0" "c.5277C>T" "r.(?)" "p.(Val1759=)" "" "0000892550" "00000656" "30" "5298" "0" "5298" "0" "c.5298C>T" "r.(?)" "p.(Val1766=)" "" "0000892551" "00025856" "50" "5103" "0" "5103" "0" "c.5103G>T" "r.(?)" "p.(Arg1701Ser)" "" "0000892551" "00000656" "50" "5124" "0" "5124" "0" "c.5124G>T" "r.(?)" "p.(Arg1708Ser)" "" "0000892552" "00025856" "30" "4953" "7" "4953" "7" "c.4953+7G>T" "r.(=)" "p.(=)" "" "0000892552" "00000656" "30" "4974" "7" "4974" "7" "c.4974+7G>T" "r.(=)" "p.(=)" "" "0000892553" "00025856" "50" "4953" "0" "4953" "0" "c.4953G>A" "r.(?)" "p.(Gln1651=)" "" "0000892553" "00000656" "50" "4974" "0" "4974" "0" "c.4974G>A" "r.(?)" "p.(Gln1658=)" "" "0000892554" "00025856" "10" "4579" "-13" "4579" "-13" "c.4579-13G>A" "r.(=)" "p.(=)" "" "0000892554" "00000656" "10" "4600" "-13" "4600" "-13" "c.4600-13G>A" "r.(=)" "p.(=)" "" "0000892555" "00025856" "10" "4401" "0" "4401" "0" "c.4401C>T" "r.(?)" "p.(Tyr1467=)" "" "0000892555" "00000656" "10" "4422" "0" "4422" "0" "c.4422C>T" "r.(?)" "p.(Tyr1474=)" "" "0000892556" "00025856" "30" "4293" "0" "4293" "0" "c.4293C>T" "r.(?)" "p.(Asp1431=)" "" "0000892556" "00000656" "30" "4314" "0" "4314" "0" "c.4314C>T" "r.(?)" "p.(Asp1438=)" "" "0000892557" "00025856" "30" "4203" "0" "4203" "0" "c.4203C>T" "r.(?)" "p.(Ile1401=)" "" "0000892557" "00000656" "30" "4224" "0" "4224" "0" "c.4224C>T" "r.(?)" "p.(Ile1408=)" "" "0000892558" "00025856" "30" "4116" "12" "4116" "12" "c.4116+12G>A" "r.(=)" "p.(=)" "" "0000892558" "00000656" "30" "4137" "12" "4137" "12" "c.4137+12G>A" "r.(=)" "p.(=)" "" "0000892559" "00025856" "30" "3910" "0" "3910" "0" "c.3910A>C" "r.(?)" "p.(Ile1304Leu)" "" "0000892559" "00000656" "30" "3931" "0" "3931" "0" "c.3931A>C" "r.(?)" "p.(Ile1311Leu)" "" "0000892560" "00025856" "10" "3651" "7" "3651" "11" "c.3651+7_3651+11del" "r.(=)" "p.(=)" "" "0000892560" "00000656" "10" "3672" "7" "3672" "11" "c.3672+7_3672+11del" "r.(=)" "p.(=)" "" "0000892561" "00025856" "10" "3651" "5" "3651" "5" "c.3651+5del" "r.spl?" "p.?" "" "0000892561" "00000656" "10" "3672" "5" "3672" "5" "c.3672+5del" "r.spl?" "p.?" "" "0000892562" "00025856" "70" "2520" "2" "2520" "2" "c.2520+2T>G" "r.spl?" "p.?" "" "0000892562" "00000656" "70" "2541" "2" "2541" "2" "c.2541+2T>G" "r.spl?" "p.?" "" "0000892563" "00025856" "10" "2412" "-9" "2412" "-9" "c.2412-9C>A" "r.(=)" "p.(=)" "" "0000892563" "00000656" "10" "2433" "-9" "2433" "-9" "c.2433-9C>A" "r.(=)" "p.(=)" "" "0000892564" "00025856" "30" "1440" "0" "1440" "0" "c.1440C>T" "r.(?)" "p.(Asn480=)" "" "0000892564" "00000656" "30" "1461" "0" "1461" "0" "c.1461C>T" "r.(?)" "p.(Asn487=)" "" "0000892565" "00025856" "30" "1017" "0" "1017" "0" "c.1017C>T" "r.(?)" "p.(Ser339=)" "" "0000892565" "00000656" "30" "1038" "0" "1038" "0" "c.1038C>T" "r.(?)" "p.(Ser346=)" "" "0000892566" "00025856" "30" "429" "0" "429" "0" "c.429G>A" "r.(?)" "p.(Lys143=)" "" "0000892566" "00000656" "30" "429" "0" "429" "0" "c.429G>A" "r.(?)" "p.(Lys143=)" "" "0000914473" "00025856" "30" "5529" "0" "5529" "0" "c.5529G>A" "r.(?)" "p.(Ser1843=)" "" "0000914473" "00000656" "30" "5550" "0" "5550" "0" "c.5550G>A" "r.(?)" "p.(Ser1850=)" "" "0000914474" "00025856" "50" "5234" "0" "5245" "0" "c.5234_5245del" "r.(?)" "p.(Leu1745_Glu1748del)" "" "0000914474" "00000656" "50" "5255" "0" "5266" "0" "c.5255_5266del" "r.(?)" "p.(Leu1752_Glu1755del)" "" "0000914475" "00025856" "30" "4579" "-14" "4579" "-14" "c.4579-14C>T" "r.(=)" "p.(=)" "" "0000914475" "00000656" "30" "4600" "-14" "4600" "-14" "c.4600-14C>T" "r.(=)" "p.(=)" "" "0000914476" "00025856" "30" "3973" "0" "3973" "0" "c.3973C>G" "r.(?)" "p.(Gln1325Glu)" "" "0000914476" "00000656" "30" "3994" "0" "3994" "0" "c.3994C>G" "r.(?)" "p.(Gln1332Glu)" "" "0000914477" "00025856" "30" "3310" "0" "3310" "0" "c.3310G>A" "r.(?)" "p.(Ala1104Thr)" "" "0000914477" "00000656" "30" "3331" "0" "3331" "0" "c.3331G>A" "r.(?)" "p.(Ala1111Thr)" "" "0000914478" "00025856" "30" "2964" "0" "2964" "0" "c.2964G>C" "r.(?)" "p.(Leu988=)" "" "0000914478" "00000656" "30" "2985" "0" "2985" "0" "c.2985G>C" "r.(?)" "p.(Leu995=)" "" "0000914479" "00025856" "30" "2823" "0" "2823" "0" "c.2823A>G" "r.(?)" "p.(Leu941=)" "" "0000914479" "00000656" "30" "2844" "0" "2844" "0" "c.2844A>G" "r.(?)" "p.(Leu948=)" "" "0000914480" "00025856" "30" "1512" "0" "1512" "0" "c.1512C>T" "r.(?)" "p.(Ile504=)" "" "0000914480" "00000656" "30" "1533" "0" "1533" "0" "c.1533C>T" "r.(?)" "p.(Ile511=)" "" "0000914481" "00025856" "50" "1358" "0" "1358" "0" "c.1358C>G" "r.(?)" "p.(Ser453Cys)" "" "0000914481" "00000656" "50" "1379" "0" "1379" "0" "c.1379C>G" "r.(?)" "p.(Ser460Cys)" "" "0000926136" "00025856" "10" "5757" "0" "5757" "0" "c.5757C>T" "r.(?)" "p.(Arg1919=)" "" "0000926136" "00000656" "10" "5778" "0" "5778" "0" "c.5778C>T" "r.(?)" "p.(Arg1926=)" "" "0000926137" "00025856" "50" "5242" "0" "5242" "0" "c.5242G>A" "r.(?)" "p.(Glu1748Lys)" "" "0000926137" "00000656" "50" "5263" "0" "5263" "0" "c.5263G>A" "r.(?)" "p.(Glu1755Lys)" "" "0000926138" "00025856" "50" "4939" "0" "4939" "0" "c.4939C>A" "r.(?)" "p.(Leu1647Ile)" "" "0000926138" "00000656" "50" "4960" "0" "4960" "0" "c.4960C>A" "r.(?)" "p.(Leu1654Ile)" "" "0000926139" "00025856" "30" "4791" "4" "4791" "4" "c.4791+4C>T" "r.spl?" "p.?" "" "0000926139" "00000656" "30" "4812" "4" "4812" "4" "c.4812+4C>T" "r.spl?" "p.?" "" "0000926140" "00025856" "30" "3949" "0" "3949" "0" "c.3949C>A" "r.(?)" "p.(Leu1317Ile)" "" "0000926140" "00000656" "30" "3970" "0" "3970" "0" "c.3970C>A" "r.(?)" "p.(Leu1324Ile)" "" "0000926141" "00025856" "30" "3859" "-170" "3859" "-170" "c.3859-170G>T" "r.(=)" "p.(=)" "" "0000926141" "00000656" "30" "3880" "-170" "3880" "-170" "c.3880-170G>T" "r.(=)" "p.(=)" "" "0000926142" "00025856" "30" "3858" "87" "3858" "87" "c.3858+87C>T" "r.(=)" "p.(=)" "" "0000926142" "00000656" "30" "3879" "87" "3879" "87" "c.3879+87C>T" "r.(=)" "p.(=)" "" "0000926143" "00025856" "30" "3652" "-107" "3652" "-105" "c.3652-107_3652-105dup" "r.(=)" "p.(=)" "" "0000926143" "00000656" "30" "3673" "-107" "3673" "-105" "c.3673-107_3673-105dup" "r.(=)" "p.(=)" "" "0000926144" "00025856" "50" "2392" "0" "2392" "0" "c.2392C>T" "r.(?)" "p.(Arg798Cys)" "" "0000926144" "00000656" "50" "2413" "0" "2413" "0" "c.2413C>T" "r.(?)" "p.(Arg805Cys)" "" "0000926145" "00025856" "50" "714" "0" "714" "0" "c.714C>G" "r.(?)" "p.(Asn238Lys)" "" "0000926145" "00000656" "50" "735" "0" "735" "0" "c.735C>G" "r.(?)" "p.(Asn245Lys)" "" "0000926146" "00025856" "30" "633" "2030" "633" "2030" "c.633+2030G>C" "r.(=)" "p.(=)" "" "0000926146" "00000656" "30" "654" "98" "654" "98" "c.654+98G>C" "r.(=)" "p.(=)" "" "0000926147" "00025856" "30" "300" "0" "300" "0" "c.300C>T" "r.(?)" "p.(Ser100=)" "" "0000926147" "00000656" "30" "300" "0" "300" "0" "c.300C>T" "r.(?)" "p.(Ser100=)" "" "0000930506" "00025856" "30" "5505" "-34" "5505" "-34" "c.5505-34C>T" "r.(=)" "p.(=)" "" "0000930506" "00000656" "30" "5526" "-34" "5526" "-34" "c.5526-34C>T" "r.(=)" "p.(=)" "" "0000930507" "00025856" "50" "4834" "0" "4834" "0" "c.4834C>T" "r.(?)" "p.(Arg1612Cys)" "" "0000930507" "00000656" "50" "4855" "0" "4855" "0" "c.4855C>T" "r.(?)" "p.(Arg1619Cys)" "" "0000930508" "00025856" "10" "2520" "15" "2520" "15" "c.2520+15C>G" "r.(=)" "p.(=)" "" "0000930508" "00000656" "10" "2541" "15" "2541" "15" "c.2541+15C>G" "r.(=)" "p.(=)" "" "0000930509" "00025856" "30" "1130" "-178" "1130" "-178" "c.1130-178G>A" "r.(=)" "p.(=)" "" "0000930509" "00000656" "30" "1151" "-178" "1151" "-178" "c.1151-178G>A" "r.(=)" "p.(=)" "" "0000930510" "00025856" "30" "795" "0" "795" "0" "c.795G>T" "r.(?)" "p.(=)" "" "0000930510" "00000656" "30" "816" "0" "816" "0" "c.816G>T" "r.(?)" "p.(=)" "" "0000933670" "00025856" "90" "5544" "0" "5548" "0" "c.5544_5548del" "r.(?)" "p.(Asp1848Glufs*60)" "" "0000933670" "00000656" "90" "5565" "0" "5569" "0" "c.5565_5569del" "r.(?)" "p.(Asp1855Glufs*60)" "" "0000950514" "00025856" "50" "5117" "0" "5117" "0" "c.5117C>T" "r.(?)" "p.(Ala1706Val)" "" "0000950514" "00000656" "50" "5138" "0" "5138" "0" "c.5138C>T" "r.(?)" "p.(Ala1713Val)" "" "0000950515" "00025856" "10" "4401" "0" "4401" "0" "c.4401C>T" "r.(?)" "p.(Tyr1467=)" "" "0000950515" "00000656" "10" "4422" "0" "4422" "0" "c.4422C>T" "r.(?)" "p.(Tyr1474=)" "" "0000950516" "00025856" "10" "4116" "12" "4116" "12" "c.4116+12G>A" "r.(=)" "p.(=)" "" "0000950516" "00000656" "10" "4137" "12" "4137" "12" "c.4137+12G>A" "r.(=)" "p.(=)" "" "0000950517" "00025856" "10" "3651" "7" "3651" "11" "c.3651+7_3651+11del" "r.(=)" "p.(=)" "" "0000950517" "00000656" "10" "3672" "7" "3672" "11" "c.3672+7_3672+11del" "r.(=)" "p.(=)" "" "0000950518" "00025856" "10" "3651" "5" "3651" "5" "c.3651+5del" "r.spl?" "p.?" "" "0000950518" "00000656" "10" "3672" "5" "3672" "5" "c.3672+5del" "r.spl?" "p.?" "" "0000950519" "00025856" "50" "3262" "0" "3262" "0" "c.3262A>G" "r.(?)" "p.(Lys1088Glu)" "" "0000950519" "00000656" "50" "3283" "0" "3283" "0" "c.3283A>G" "r.(?)" "p.(Lys1095Glu)" "" "0000950520" "00025856" "30" "2860" "-14" "2860" "-14" "c.2860-14C>G" "r.(=)" "p.(=)" "" "0000950520" "00000656" "30" "2881" "-14" "2881" "-14" "c.2881-14C>G" "r.(=)" "p.(=)" "" "0000950521" "00025856" "30" "2653" "0" "2653" "0" "c.2653C>T" "r.(?)" "p.(=)" "" "0000950521" "00000656" "30" "2674" "0" "2674" "0" "c.2674C>T" "r.(?)" "p.(=)" "" "0000950522" "00025856" "30" "2520" "15" "2520" "15" "c.2520+15C>G" "r.(=)" "p.(=)" "" "0000950522" "00000656" "30" "2541" "15" "2541" "15" "c.2541+15C>G" "r.(=)" "p.(=)" "" "0000950523" "00025856" "50" "2426" "0" "2426" "0" "c.2426G>A" "r.(?)" "p.(Arg809Lys)" "" "0000950523" "00000656" "50" "2447" "0" "2447" "0" "c.2447G>A" "r.(?)" "p.(Arg816Lys)" "" "0000950524" "00025856" "30" "1575" "21" "1575" "21" "c.1575+21C>T" "r.(=)" "p.(=)" "" "0000950524" "00000656" "30" "1596" "21" "1596" "21" "c.1596+21C>T" "r.(=)" "p.(=)" "" "0000950525" "00025856" "30" "502" "316" "502" "316" "c.502+316A>G" "r.(=)" "p.(=)" "" "0000950525" "00000656" "30" "502" "316" "502" "316" "c.502+316A>G" "r.(=)" "p.(=)" "" "0000968106" "00025856" "30" "5800" "0" "5800" "0" "c.5800A>T" "r.(?)" "p.(Thr1934Ser)" "" "0000968106" "00000656" "30" "5860" "0" "5860" "0" "c.*22A>T" "r.(=)" "p.(=)" "" "0000968107" "00025856" "30" "5676" "0" "5676" "0" "c.5676G>C" "r.(?)" "p.(Glu1892Asp)" "" "0000968107" "00000656" "30" "5697" "0" "5697" "0" "c.5697G>C" "r.(?)" "p.(Glu1899Asp)" "" "0000968108" "00025856" "30" "5504" "185" "5504" "185" "c.5504+185T>C" "r.(=)" "p.(=)" "" "0000968108" "00000656" "30" "5525" "185" "5525" "185" "c.5525+185T>C" "r.(=)" "p.(=)" "" "0000968109" "00025856" "30" "5172" "-116" "5172" "-116" "c.5172-116C>G" "r.(=)" "p.(=)" "" "0000968109" "00000656" "30" "5193" "-116" "5193" "-116" "c.5193-116C>G" "r.(=)" "p.(=)" "" "0000968110" "00025856" "30" "4791" "11" "4791" "11" "c.4791+11C>G" "r.(=)" "p.(=)" "" "0000968110" "00000656" "30" "4812" "11" "4812" "11" "c.4812+11C>G" "r.(=)" "p.(=)" "" "0000968111" "00025856" "70" "4578" "2" "4578" "2" "c.4578+2T>C" "r.spl?" "p.?" "" "0000968111" "00000656" "70" "4599" "2" "4599" "2" "c.4599+2T>C" "r.spl?" "p.?" "" "0000968112" "00025856" "30" "3858" "331" "3858" "331" "c.3858+331G>A" "r.(=)" "p.(=)" "" "0000968112" "00000656" "30" "3879" "331" "3879" "331" "c.3879+331G>A" "r.(=)" "p.(=)" "" "0000968113" "00025856" "30" "3652" "-54" "3652" "-54" "c.3652-54C>T" "r.(=)" "p.(=)" "" "0000968113" "00000656" "30" "3673" "-54" "3673" "-54" "c.3673-54C>T" "r.(=)" "p.(=)" "" "0000968114" "00025856" "30" "3651" "213" "3651" "213" "c.3651+213G>C" "r.(=)" "p.(=)" "" "0000968114" "00000656" "30" "3672" "213" "3672" "213" "c.3672+213G>C" "r.(=)" "p.(=)" "" "0000968115" "00025856" "30" "3506" "22" "3506" "22" "c.3506+22C>A" "r.(=)" "p.(=)" "" "0000968115" "00000656" "30" "3527" "22" "3527" "22" "c.3527+22C>A" "r.(=)" "p.(=)" "" "0000968116" "00025856" "50" "1995" "0" "1995" "0" "c.1995G>C" "r.(?)" "p.(Met665Ile)" "" "0000968116" "00000656" "50" "2016" "0" "2016" "0" "c.2016G>C" "r.(?)" "p.(Met672Ile)" "" "0000968117" "00025856" "50" "1937" "0" "1937" "0" "c.1937A>G" "r.(?)" "p.(Lys646Arg)" "" "0000968117" "00000656" "50" "1958" "0" "1958" "0" "c.1958A>G" "r.(?)" "p.(Lys653Arg)" "" "0000968118" "00025856" "10" "1402" "-285" "1402" "-285" "c.1402-285C>T" "r.(=)" "p.(=)" "" "0000968118" "00000656" "10" "1423" "-285" "1423" "-285" "c.1423-285C>T" "r.(=)" "p.(=)" "" "0000968119" "00025856" "30" "633" "99" "633" "99" "c.633+99G>A" "r.(=)" "p.(=)" "" "0000968119" "00000656" "30" "633" "99" "633" "99" "c.633+99G>A" "r.(=)" "p.(=)" "" "0000968120" "00025856" "50" "301" "0" "301" "0" "c.301G>A" "r.(?)" "p.(Val101Met)" "" "0000968120" "00000656" "50" "301" "0" "301" "0" "c.301G>A" "r.(?)" "p.(Val101Met)" "" "0000968121" "00025856" "30" "217" "0" "217" "0" "c.217A>C" "r.(?)" "p.(Lys73Gln)" "" "0000968121" "00000656" "30" "217" "0" "217" "0" "c.217A>C" "r.(?)" "p.(Lys73Gln)" "" "0000981620" "00025856" "50" "42500" "0" "42500" "0" "c.*36581G>A" "r.(=)" "p.(=)" "" "0000981620" "00000656" "50" "42560" "0" "42560" "0" "c.*36722G>A" "r.(=)" "p.(=)" "" "0000981621" "00025856" "30" "42490" "0" "42490" "0" "c.*36571A>G" "r.(=)" "p.(=)" "" "0000981621" "00000656" "30" "42550" "0" "42550" "0" "c.*36712A>G" "r.(=)" "p.(=)" "" "0000981622" "00025856" "30" "5787" "-4679" "5787" "-4679" "c.5787-4679G>A" "r.(=)" "p.(=)" "" "0000981622" "00000656" "30" "5846" "1" "5846" "1" "c.*8+1G>A" "r.spl?" "p.?" "" "0000981623" "00025856" "30" "5787" "-4707" "5787" "-4707" "c.5787-4707dup" "r.(=)" "p.(=)" "" "0000981623" "00000656" "30" "5819" "0" "5819" "0" "c.5819dup" "r.(?)" "p.(Gln1941Thrfs*20)" "" "0000981624" "00025856" "30" "5313" "0" "5313" "0" "c.5313C>T" "r.(?)" "p.(=)" "" "0000981624" "00000656" "30" "5334" "0" "5334" "0" "c.5334C>T" "r.(?)" "p.(=)" "" "0000981625" "00025856" "30" "5296" "-4" "5296" "-4" "c.5296-4C>T" "r.spl?" "p.?" "" "0000981625" "00000656" "30" "5317" "-4" "5317" "-4" "c.5317-4C>T" "r.spl?" "p.?" "" "0000981626" "00025856" "50" "5233" "0" "5233" "0" "c.5233C>A" "r.(?)" "p.(Leu1745Met)" "" "0000981626" "00000656" "50" "5254" "0" "5254" "0" "c.5254C>A" "r.(?)" "p.(Leu1752Met)" "" "0000981627" "00025856" "50" "4900" "0" "4900" "0" "c.4900G>A" "r.(?)" "p.(Asp1634Asn)" "" "0000981627" "00000656" "50" "4921" "0" "4921" "0" "c.4921G>A" "r.(?)" "p.(Asp1641Asn)" "" "0000981628" "00025856" "30" "4770" "0" "4770" "0" "c.4770G>A" "r.(?)" "p.(Lys1590=)" "" "0000981628" "00000656" "30" "4791" "0" "4791" "0" "c.4791G>A" "r.(?)" "p.(Lys1597=)" "" "0000981629" "00025856" "50" "4691" "0" "4691" "0" "c.4691G>A" "r.(?)" "p.(Arg1564Gln)" "" "0000981629" "00000656" "50" "4712" "0" "4712" "0" "c.4712G>A" "r.(?)" "p.(Arg1571Gln)" "" "0000981630" "00025856" "50" "4403" "0" "4403" "0" "c.4403C>T" "r.(?)" "p.(Ala1468Val)" "" "0000981630" "00000656" "50" "4424" "0" "4424" "0" "c.4424C>T" "r.(?)" "p.(Ala1475Val)" "" "0000981631" "00025856" "30" "4117" "-90" "4117" "-90" "c.4117-90C>G" "r.(=)" "p.(=)" "" "0000981631" "00000656" "30" "4138" "-90" "4138" "-90" "c.4138-90C>G" "r.(=)" "p.(=)" "" "0000981632" "00025856" "50" "4090" "0" "4090" "0" "c.4090C>T" "r.(?)" "p.(Arg1364Cys)" "" "0000981632" "00000656" "50" "4111" "0" "4111" "0" "c.4111C>T" "r.(?)" "p.(Arg1371Cys)" "" "0000981633" "00025856" "50" "3322" "0" "3322" "0" "c.3322A>G" "r.(?)" "p.(Asn1108Asp)" "" "0000981633" "00000656" "50" "3343" "0" "3343" "0" "c.3343A>G" "r.(?)" "p.(Asn1115Asp)" "" "0000981634" "00025856" "30" "2521" "-155" "2521" "-155" "c.2521-155C>G" "r.(=)" "p.(=)" "" "0000981634" "00000656" "30" "2542" "-155" "2542" "-155" "c.2542-155C>G" "r.(=)" "p.(=)" "" "0000981635" "00025856" "50" "2150" "0" "2150" "0" "c.2150A>G" "r.(?)" "p.(Asn717Ser)" "" "0000981635" "00000656" "50" "2171" "0" "2171" "0" "c.2171A>G" "r.(?)" "p.(Asn724Ser)" "" "0000981636" "00025856" "50" "2150" "0" "2150" "0" "c.2150A>G" "r.(?)" "p.(Asn717Ser)" "" "0000981636" "00000656" "50" "2171" "0" "2171" "0" "c.2171A>G" "r.(?)" "p.(Asn724Ser)" "" "0000981637" "00025856" "50" "2005" "0" "2005" "0" "c.2005C>T" "r.(?)" "p.(Arg669Cys)" "" "0000981637" "00000656" "50" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Arg676Cys)" "" "0000981638" "00025856" "50" "1316" "0" "1316" "0" "c.1316G>A" "r.(?)" "p.(Arg439His)" "" "0000981638" "00000656" "50" "1337" "0" "1337" "0" "c.1337G>A" "r.(?)" "p.(Arg446His)" "" "0000981639" "00025856" "30" "503" "-9" "503" "-9" "c.503-9T>C" "r.(=)" "p.(=)" "" "0000981639" "00000656" "30" "503" "-9" "503" "-9" "c.503-9T>C" "r.(=)" "p.(=)" "" "0000981640" "00025856" "30" "503" "-9" "503" "-9" "c.503-9T>C" "r.(=)" "p.(=)" "" "0000981640" "00000656" "30" "503" "-9" "503" "-9" "c.503-9T>C" "r.(=)" "p.(=)" "" "0000981641" "00025856" "50" "496" "0" "496" "0" "c.496C>A" "r.(?)" "p.(Leu166Ile)" "" "0000981641" "00000656" "50" "496" "0" "496" "0" "c.496C>A" "r.(?)" "p.(Leu166Ile)" "" "0000981642" "00025856" "30" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Ala158Thr)" "" "0000981642" "00000656" "30" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Ala158Thr)" "" "0000981643" "00025856" "30" "471" "0" "471" "0" "c.471C>T" "r.(?)" "p.(Ile157=)" "" "0000981643" "00000656" "30" "471" "0" "471" "0" "c.471C>T" "r.(?)" "p.(Ile157=)" "" "0001001912" "00025856" "30" "5787" "-4707" "5787" "-4707" "c.5787-4707C>A" "r.(=)" "p.(=)" "" "0001001912" "00000656" "30" "5819" "0" "5819" "0" "c.5819C>A" "r.(?)" "p.(Pro1940Gln)" "" "0001001913" "00025856" "50" "5785" "0" "5785" "0" "c.5785A>C" "r.(?)" "p.(=)" "" "0001001913" "00000656" "50" "5806" "0" "5806" "0" "c.5806A>C" "r.(?)" "p.(=)" "" "0001001914" "00025856" "30" "5504" "6" "5504" "6" "c.5504+6C>A" "r.(=)" "p.(=)" "" "0001001914" "00000656" "30" "5525" "6" "5525" "6" "c.5525+6C>A" "r.(=)" "p.(=)" "" "0001001915" "00025856" "30" "5296" "-184" "5296" "-184" "c.5296-184G>A" "r.(=)" "p.(=)" "" "0001001915" "00000656" "30" "5317" "-184" "5317" "-184" "c.5317-184G>A" "r.(=)" "p.(=)" "" "0001001916" "00025856" "30" "5255" "0" "5255" "0" "c.5255T>C" "r.(?)" "p.(Met1752Thr)" "" "0001001916" "00000656" "30" "5276" "0" "5276" "0" "c.5276T>C" "r.(?)" "p.(Met1759Thr)" "" "0001001917" "00025856" "30" "5226" "0" "5226" "0" "c.5226G>C" "r.(?)" "p.(Glu1742Asp)" "" "0001001917" "00000656" "30" "5247" "0" "5247" "0" "c.5247G>C" "r.(?)" "p.(Glu1749Asp)" "" "0001001918" "00025856" "50" "5128" "0" "5128" "0" "c.5128A>G" "r.(?)" "p.(Lys1710Glu)" "" "0001001918" "00000656" "50" "5149" "0" "5149" "0" "c.5149A>G" "r.(?)" "p.(Lys1717Glu)" "" "0001001919" "00025856" "50" "5052" "0" "5052" "0" "c.5052C>G" "r.(?)" "p.(Ser1684Arg)" "" "0001001919" "00000656" "50" "5073" "0" "5073" "0" "c.5073C>G" "r.(?)" "p.(Ser1691Arg)" "" "0001001920" "00025856" "50" "4826" "0" "4826" "0" "c.4826G>A" "r.(?)" "p.(Arg1609Gln)" "" "0001001920" "00000656" "50" "4847" "0" "4847" "0" "c.4847G>A" "r.(?)" "p.(Arg1616Gln)" "" "0001001921" "00025856" "30" "4578" "112" "4578" "112" "c.4578+112C>T" "r.(=)" "p.(=)" "" "0001001921" "00000656" "30" "4599" "112" "4599" "112" "c.4599+112C>T" "r.(=)" "p.(=)" "" "0001001922" "00025856" "30" "4575" "0" "4575" "0" "c.4575G>A" "r.(?)" "p.(=)" "" "0001001922" "00000656" "30" "4596" "0" "4596" "0" "c.4596G>A" "r.(?)" "p.(=)" "" "0001001923" "00025856" "50" "4315" "0" "4315" "0" "c.4315C>G" "r.(?)" "p.(Gln1439Glu)" "" "0001001923" "00000656" "50" "4336" "0" "4336" "0" "c.4336C>G" "r.(?)" "p.(Gln1446Glu)" "" "0001001924" "00025856" "30" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Ala1414Thr)" "" "0001001924" "00000656" "30" "4261" "0" "4261" "0" "c.4261G>A" "r.(?)" "p.(Ala1421Thr)" "" "0001001925" "00025856" "50" "4123" "0" "4123" "0" "c.4123G>A" "r.(?)" "p.(Asp1375Asn)" "" "0001001925" "00000656" "50" "4144" "0" "4144" "0" "c.4144G>A" "r.(?)" "p.(Asp1382Asn)" "" "0001001926" "00025856" "50" "3560" "0" "3560" "0" "c.3560C>T" "r.(?)" "p.(Thr1187Met)" "" "0001001926" "00000656" "50" "3581" "0" "3581" "0" "c.3581C>T" "r.(?)" "p.(Thr1194Met)" "" "0001001927" "00025856" "30" "3054" "0" "3054" "0" "c.3054G>A" "r.(?)" "p.(=)" "" "0001001927" "00000656" "30" "3075" "0" "3075" "0" "c.3075G>A" "r.(?)" "p.(=)" "" "0001001928" "00025856" "50" "2789" "0" "2789" "0" "c.2789G>A" "r.(?)" "p.(Arg930His)" "" "0001001928" "00000656" "50" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Arg937His)" "" "0001001929" "00025856" "50" "2443" "0" "2443" "0" "c.2443G>T" "r.(?)" "p.(Ala815Ser)" "" "0001001929" "00000656" "50" "2464" "0" "2464" "0" "c.2464G>T" "r.(?)" "p.(Ala822Ser)" "" "0001001930" "00025856" "30" "2411" "140" "2411" "140" "c.2411+140G>C" "r.(=)" "p.(=)" "" "0001001930" "00000656" "30" "2432" "140" "2432" "140" "c.2432+140G>C" "r.(=)" "p.(=)" "" "0001001931" "00025856" "30" "2251" "-19" "2251" "-19" "c.2251-19C>G" "r.(=)" "p.(=)" "" "0001001931" "00000656" "30" "2272" "-19" "2272" "-19" "c.2272-19C>G" "r.(=)" "p.(=)" "" "0001001932" "00025856" "50" "2216" "0" "2216" "0" "c.2216G>C" "r.(?)" "p.(Gly739Ala)" "" "0001001932" "00000656" "50" "2237" "0" "2237" "0" "c.2237G>C" "r.(?)" "p.(Gly746Ala)" "" "0001001933" "00025856" "50" "2195" "0" "2195" "0" "c.2195C>T" "r.(?)" "p.(Ala732Val)" "" "0001001933" "00000656" "50" "2216" "0" "2216" "0" "c.2216C>T" "r.(?)" "p.(Ala739Val)" "" "0001001934" "00025856" "50" "2177" "0" "2177" "0" "c.2177A>G" "r.(?)" "p.(Gln726Arg)" "" "0001001934" "00000656" "50" "2198" "0" "2198" "0" "c.2198A>G" "r.(?)" "p.(Gln733Arg)" "" "0001001935" "00025856" "50" "2158" "0" "2158" "0" "c.2158G>A" "r.(?)" "p.(Val720Ile)" "" "0001001935" "00000656" "50" "2179" "0" "2179" "0" "c.2179G>A" "r.(?)" "p.(Val727Ile)" "" "0001001936" "00025856" "50" "2063" "0" "2063" "0" "c.2063G>A" "r.(?)" "p.(Gly688Asp)" "" "0001001936" "00000656" "50" "2084" "0" "2084" "0" "c.2084G>A" "r.(?)" "p.(Gly695Asp)" "" "0001001937" "00025856" "30" "2005" "0" "2005" "0" "c.2005C>T" "r.(?)" "p.(Arg669Cys)" "" "0001001937" "00000656" "30" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Arg676Cys)" "" "0001001938" "00025856" "50" "1981" "0" "1981" "0" "c.1981C>G" "r.(?)" "p.(Leu661Val)" "" "0001001938" "00000656" "50" "2002" "0" "2002" "0" "c.2002C>G" "r.(?)" "p.(Leu668Val)" "" "0001001939" "00025856" "30" "1750" "-264" "1750" "-264" "c.1750-264C>T" "r.(=)" "p.(=)" "" "0001001939" "00000656" "30" "1771" "-264" "1771" "-264" "c.1771-264C>T" "r.(=)" "p.(=)" "" "0001001940" "00025856" "30" "1749" "63" "1749" "63" "c.1749+63A>G" "r.(=)" "p.(=)" "" "0001001940" "00000656" "30" "1770" "63" "1770" "63" "c.1770+63A>G" "r.(=)" "p.(=)" "" "0001001941" "00025856" "50" "1358" "0" "1358" "0" "c.1358C>G" "r.(?)" "p.(Ser453Cys)" "" "0001001941" "00000656" "50" "1379" "0" "1379" "0" "c.1379C>G" "r.(?)" "p.(Ser460Cys)" "" "0001001942" "00025856" "30" "1034" "-12" "1034" "-12" "c.1034-12T>G" "r.(=)" "p.(=)" "" "0001001942" "00000656" "30" "1055" "-12" "1055" "-12" "c.1055-12T>G" "r.(=)" "p.(=)" "" "0001007460" "00000656" "70" "3347" "0" "3347" "0" "c.3347C>A" "r.(?)" "p.(Ala1116Asp)" "" "0001015297" "00025856" "30" "5490" "0" "5490" "0" "c.5490C>T" "r.(?)" "p.(=)" "" "0001015297" "00000656" "30" "5511" "0" "5511" "0" "c.5511C>T" "r.(?)" "p.(=)" "" "0001015298" "00025856" "30" "4413" "0" "4413" "0" "c.4413G>A" "r.(?)" "p.(=)" "" "0001015298" "00000656" "30" "4434" "0" "4434" "0" "c.4434G>A" "r.(?)" "p.(=)" "" "0001015299" "00025856" "30" "3816" "0" "3816" "0" "c.3816G>A" "r.(?)" "p.(Glu1272=)" "" "0001015299" "00000656" "30" "3837" "0" "3837" "0" "c.3837G>A" "r.(?)" "p.(Glu1279=)" "" "0001015300" "00025856" "50" "3149" "0" "3149" "0" "c.3149G>A" "r.(?)" "p.(Arg1050Gln)" "" "0001015300" "00000656" "50" "3170" "0" "3170" "0" "c.3170G>A" "r.(?)" "p.(Arg1057Gln)" "" "0001015301" "00025856" "50" "2789" "0" "2789" "0" "c.2789G>A" "r.(?)" "p.(Arg930His)" "" "0001015301" "00000656" "50" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Arg937His)" "" "0001015302" "00025856" "30" "1764" "0" "1764" "0" "c.1764G>C" "r.(?)" "p.(=)" "" "0001015302" "00000656" "30" "1785" "0" "1785" "0" "c.1785G>C" "r.(?)" "p.(=)" "" "0001015303" "00025856" "50" "590" "0" "590" "0" "c.590T>C" "r.(?)" "p.(Val197Ala)" "" "0001015303" "00000656" "50" "590" "0" "590" "0" "c.590T>C" "r.(?)" "p.(Val197Ala)" "" "0001022107" "00000656" "50" "1423" "-12" "1423" "-12" "c.1423-12C>G" "r.1422_1423=" "p.=" "12i" "0001026566" "00025856" "50" "5470" "0" "5470" "0" "c.5470G>A" "r.(?)" "p.(Ala1824Thr)" "" "0001026566" "00000656" "50" "5491" "0" "5491" "0" "c.5491G>A" "r.(?)" "p.(Ala1831Thr)" "" "0001026567" "00025856" "50" "5269" "0" "5269" "0" "c.5269G>A" "r.(?)" "p.(Asp1757Asn)" "" "0001026567" "00000656" "50" "5290" "0" "5290" "0" "c.5290G>A" "r.(?)" "p.(Asp1764Asn)" "" "0001026568" "00025856" "30" "5094" "0" "5094" "0" "c.5094C>T" "r.(?)" "p.(=)" "" "0001026568" "00000656" "30" "5115" "0" "5115" "0" "c.5115C>T" "r.(?)" "p.(=)" "" "0001026569" "00025856" "30" "4770" "0" "4770" "0" "c.4770G>A" "r.(?)" "p.(Lys1590=)" "" "0001026569" "00000656" "30" "4791" "0" "4791" "0" "c.4791G>A" "r.(?)" "p.(Lys1597=)" "" "0001026570" "00025856" "30" "4579" "-6" "4579" "-6" "c.4579-6C>T" "r.(=)" "p.(=)" "" "0001026570" "00000656" "30" "4600" "-6" "4600" "-6" "c.4600-6C>T" "r.(=)" "p.(=)" "" "0001026571" "00025856" "10" "4506" "0" "4506" "0" "c.4506C>T" "r.(?)" "p.(Leu1502=)" "" "0001026571" "00000656" "10" "4527" "0" "4527" "0" "c.4527C>T" "r.(?)" "p.(Leu1509=)" "" "0001026572" "00025856" "50" "3603" "0" "3603" "0" "c.3603C>G" "r.(?)" "p.(His1201Gln)" "" "0001026572" "00000656" "50" "3624" "0" "3624" "0" "c.3624C>G" "r.(?)" "p.(His1208Gln)" "" "0001026573" "00025856" "50" "2735" "0" "2735" "0" "c.2735G>A" "r.(?)" "p.(Arg912Gln)" "" "0001026573" "00000656" "50" "2756" "0" "2756" "0" "c.2756G>A" "r.(?)" "p.(Arg919Gln)" "" "0001026574" "00025856" "30" "2058" "12" "2058" "12" "c.2058+12C>T" "r.(=)" "p.(=)" "" "0001026574" "00000656" "30" "2079" "12" "2079" "12" "c.2079+12C>T" "r.(=)" "p.(=)" "" "0001026575" "00025856" "30" "633" "1942" "633" "1942" "c.633+1942T>C" "r.(=)" "p.(=)" "" "0001026575" "00000656" "30" "654" "10" "654" "10" "c.654+10T>C" "r.(=)" "p.(=)" "" "0001026576" "00025856" "30" "-17" "0" "-17" "0" "c.-17G>C" "r.(?)" "p.(=)" "" "0001026576" "00000656" "30" "-17" "0" "-17" "0" "c.-17G>C" "r.(?)" "p.(=)" "" "0001040806" "00025856" "30" "42629" "0" "42629" "0" "c.*36710A>G" "r.(=)" "p.(=)" "" "0001040806" "00000656" "30" "42689" "0" "42689" "0" "c.*36851A>G" "r.(=)" "p.(=)" "" "0001040810" "00025856" "50" "5887" "0" "5887" "0" "c.5887G>A" "r.(?)" "p.(Ala1963Thr)" "" "0001040810" "00000656" "50" "5947" "0" "5947" "0" "c.*109G>A" "r.(=)" "p.(=)" "" "0001040811" "00025856" "30" "5787" "-4675" "5787" "-4675" "c.5787-4675C>T" "r.(=)" "p.(=)" "" "0001040811" "00000656" "30" "5846" "5" "5846" "5" "c.*8+5C>T" "r.spl?" "p.?" "" "0001040812" "00025856" "10" "5517" "0" "5517" "0" "c.5517G>A" "r.(?)" "p.(Ala1839=)" "" "0001040812" "00000656" "10" "5538" "0" "5538" "0" "c.5538G>A" "r.(?)" "p.(Ala1846=)" "" "0001040813" "00025856" "50" "5371" "0" "5371" "0" "c.5371G>A" "r.(?)" "p.(Glu1791Lys)" "" "0001040813" "00000656" "50" "5392" "0" "5392" "0" "c.5392G>A" "r.(?)" "p.(Glu1798Lys)" "" "0001040814" "00025856" "50" "5198" "0" "5198" "0" "c.5198G>A" "r.(?)" "p.(Arg1733His)" "" "0001040814" "00000656" "50" "5219" "0" "5219" "0" "c.5219G>A" "r.(?)" "p.(Arg1740His)" "" "0001040815" "00025856" "30" "4506" "0" "4506" "0" "c.4506C>T" "r.(?)" "p.(Leu1502=)" "" "0001040815" "00000656" "30" "4527" "0" "4527" "0" "c.4527C>T" "r.(?)" "p.(Leu1509=)" "" "0001040816" "00025856" "50" "4403" "0" "4403" "0" "c.4403C>T" "r.(?)" "p.(Ala1468Val)" "" "0001040816" "00000656" "50" "4424" "0" "4424" "0" "c.4424C>T" "r.(?)" "p.(Ala1475Val)" "" "0001040817" "00025856" "30" "4158" "0" "4158" "0" "c.4158C>T" "r.(?)" "p.(Thr1386=)" "" "0001040817" "00000656" "30" "4179" "0" "4179" "0" "c.4179C>T" "r.(?)" "p.(Thr1393=)" "" "0001040818" "00025856" "50" "4105" "0" "4105" "0" "c.4105C>T" "r.(?)" "p.(Leu1369Phe)" "" "0001040818" "00000656" "50" "4126" "0" "4126" "0" "c.4126C>T" "r.(?)" "p.(Leu1376Phe)" "" "0001040819" "00025856" "10" "3967" "0" "3967" "0" "c.3967C>T" "r.(?)" "p.(Leu1323=)" "" "0001040819" "00000656" "10" "3988" "0" "3988" "0" "c.3988C>T" "r.(?)" "p.(Leu1330=)" "" "0001040820" "00025856" "50" "3530" "0" "3530" "0" "c.3530C>T" "r.(?)" "p.(Thr1177Met)" "" "0001040820" "00000656" "50" "3551" "0" "3551" "0" "c.3551C>T" "r.(?)" "p.(Thr1184Met)" "" "0001040821" "00025856" "30" "2412" "-9" "2412" "-9" "c.2412-9C>A" "r.(=)" "p.(=)" "" "0001040821" "00000656" "30" "2433" "-9" "2433" "-9" "c.2433-9C>A" "r.(=)" "p.(=)" "" "0001040822" "00025856" "50" "1924" "0" "1924" "0" "c.1924G>A" "r.(?)" "p.(Ala642Thr)" "" "0001040822" "00000656" "50" "1945" "0" "1945" "0" "c.1945G>A" "r.(?)" "p.(Ala649Thr)" "" "0001040823" "00025856" "50" "1835" "0" "1835" "0" "c.1835A>C" "r.(?)" "p.(Asp612Ala)" "" "0001040823" "00000656" "50" "1856" "0" "1856" "0" "c.1856A>C" "r.(?)" "p.(Asp619Ala)" "" "0001040824" "00025856" "50" "1834" "0" "1834" "0" "c.1834G>T" "r.(?)" "p.(Asp612Tyr)" "" "0001040824" "00000656" "50" "1855" "0" "1855" "0" "c.1855G>T" "r.(?)" "p.(Asp619Tyr)" "" "0001040825" "00025856" "30" "135" "0" "135" "0" "c.135C>T" "r.(?)" "p.(Phe45=)" "" "0001040825" "00000656" "30" "135" "0" "135" "0" "c.135C>T" "r.(?)" "p.(Phe45=)" "" "0001040826" "00025856" "50" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "" "0001040826" "00000656" "50" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "" "0001044589" "00025856" "50" "5273" "0" "5273" "0" "c.5273G>A" "r.(?)" "p.(Arg1758Gln)" "" "0001047056" "00025856" "50" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Ala47Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{variantid}}" "0000000210" "0000013530" "0000050455" "0000079435" "0000050491" "0000079471" "0000065290" "0000096965" "0000292547" "0000649236" "0000292548" "0000649237" "0000292549" "0000649238" "0000292550" "0000649239" "0000302844" "0000666201" "0000305625" "0000669313" "0000305626" "0000669314" "0000319386" "0000831671" "0000336957" "0000736497" "0000399341" "0000831702" "0000399342" "0000831703" "0000399403" "0000831764" "0000399404" "0000831765" "0000399405" "0000831766" "0000399406" "0000831767" "0000399407" "0000831768" "0000399408" "0000831769" "0000399409" "0000831770" "0000399410" "0000831771" "0000399411" "0000831772" "0000438129" "0000933670" "0000455353" "0001007460" "0000462580" "0001022107"