### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYH8) # 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}}" "MYH8" "myosin, heavy chain 8, skeletal muscle, perinatal" "17" "pter-p12" "unknown" "NG_013015.1" "UD_132119135180" "" "https://www.LOVD.nl/MYH8" "" "1" "7578" "4626" "160741" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/MYH8_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-02-16 16:00:33" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00014140" "MYH8" "myosin, heavy chain 8, skeletal muscle, perinatal" "001" "NM_002472.2" "" "NP_002463.2" "" "" "" "-95" "5943" "5814" "10325267" "10293642" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00026" "arthrogryposis" "arthrogryposis" "" "" "" "" "" "00001" "2012-08-03 16:49:36" "00006" "2019-01-04 15:23:51" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00999" "Carney complex" "Carney complex variant" "" "608837" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-08-13 09:29:05" "01000" "DA7" "Trismus-pseudocamptodactyly syndrome" "AD" "158300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MYH8" "00999" "MYH8" "01000" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00153391" "" "" "" "1" "" "01164" "" "sample of a fetus with Arthrogryposis multiplex congenita, mother not yet analysed" "?" "?" "Germany" "" "0" "" "" "" "128748" "00291611" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291612" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291613" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291614" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291615" "" "" "" "26" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304554" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00412454" "" "" "" "1" "" "00006" "{PMID:Velmans 2012:34321323}" "" "M" "" "" "" "0" "" "" "" "Pat3" "00414397" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP64" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00153391" "00026" "00291611" "00198" "00291612" "00198" "00291613" "00198" "00291614" "00198" "00291615" "00198" "00304554" "00198" "00412454" "05611" "00414397" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00026, 00198, 00999, 01000, 05611 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000126069" "01223" "00153391" "01164" "Unknown" "" "Arthrogryposis multiplex congenita" "" "" "prenatal" "" "" "" "" "" "" "prenatal" "" "0000304456" "05611" "00412454" "00006" "Isolated (sporadic)" "09y03m" "macrocephaly, OFC Z+2.7; no dolichocephaly; large forehead; epicanthal folds; deep-set eyes; no prominent nasolabial folds; full cheeks; no small ears; finger/toe clinodactyly; no developmental motor delay; developmental speech delay; no developmental regression; no intellectual disability; no autism spectrum disorder; EEG normal; no epilepsy; no febrile seizures; no muscular hypotonia; no ADHD; no stereotypical behavior; no self-injurious behavior; no aggressive behavior; sleep disturbances; no corpus callosum hypoplasia; no ventriculomegaly; no reduced brain volume; cerebral cysts; no delayed myelination; constipation; no gastroesophageal reflux; no vomiting; aphasia, dysphasia; MYH8 variant segregating with trismus-pseudocampto-dactyly in the family, central apnea, brachycephaly" "" "" "" "" "" "" "" "" "ODLURO;DA7" "neurodevelopmental delay" "" "0000306232" "00198" "00414397" "00000" "Unknown" "27y" "Congenital Contractural Arachnodactyly;Distal Arthrogryposis type 7" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000154252" "00153391" "1" "01164" "01164" "2018-02-16 11:20:39" "" "" "SEQ-NG-I" "DNA" "" "Dx-ome Panel (1563 genes)" "0000292779" "00291611" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292780" "00291612" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292781" "00291613" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292782" "00291614" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292783" "00291615" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305683" "00304554" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000413724" "00412454" "1" "00006" "00006" "2022-06-29 09:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000415677" "00414397" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000154252" "MYH8" "0000415677" "FBN2" ## 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 = 86 "{{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}}" "0000247440" "0" "10" "17" "10318636" "10318636" "subst" "0.929291" "02330" "MYH8_000013" "g.10318636A>G" "" "" "" "MYH8(NM_002472.3):c.714T>C (p.T238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10415319A>G" "" "benign" "" "0000247445" "0" "10" "17" "10297658" "10297658" "subst" "0.500837" "02330" "MYH8_000002" "g.10297658A>G" "" "" "" "MYH8(NM_002472.3):c.5074T>C (p.W1692R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10394341A>G" "" "benign" "" "0000248380" "0" "10" "17" "10318636" "10318636" "subst" "0.929291" "02325" "MYH8_000013" "g.10318636A>G" "" "" "" "MYH8(NM_002472.3):c.714T>C (p.T238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10415319A>G" "" "benign" "" "0000248422" "0" "10" "17" "10297658" "10297658" "subst" "0.500837" "02325" "MYH8_000002" "g.10297658A>G" "" "" "" "MYH8(NM_002472.3):c.5074T>C (p.W1692R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10394341A>G" "" "benign" "" "0000292747" "0" "10" "17" "10312792" "10312792" "subst" "0.00459684" "02330" "MYH8_000012" "g.10312792C>T" "" "" "" "MYH8(NM_002472.3):c.1701G>A (p.Q567=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10409475C>T" "" "benign" "" "0000292748" "0" "10" "17" "10312472" "10312472" "subst" "0.0591338" "02330" "MYH8_000011" "g.10312472G>A" "" "" "" "MYH8(NM_002472.3):c.1907C>T (p.A636V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10409155G>A" "" "benign" "" "0000292749" "0" "10" "17" "10310246" "10310246" "subst" "0.0565958" "02330" "MYH8_000010" "g.10310246G>A" "" "" "" "MYH8(NM_002472.3):c.2016C>T (p.F672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10406929G>A" "" "benign" "" "0000292750" "0" "10" "17" "10309990" "10309990" "subst" "8.54047E-5" "02330" "MYH8_000009" "g.10309990C>T" "" "" "" "MYH8(NM_002472.3):c.2171+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10406673C>T" "" "benign" "" "0000292751" "0" "50" "17" "10322285" "10322285" "subst" "2.84306E-5" "02330" "MYH8_000014" "g.10322285C>G" "" "" "" "MYH8(NM_002472.3):c.273G>C (p.E91D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10418968C>G" "" "VUS" "" "0000292752" "0" "50" "17" "10304675" "10304675" "subst" "0" "02330" "MYH8_000008" "g.10304675T>C" "" "" "" "MYH8(NM_002472.3):c.3025A>G (p.T1009A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10401358T>C" "" "VUS" "" "0000292753" "0" "10" "17" "10304500" "10304500" "subst" "0.0580985" "02330" "MYH8_000007" "g.10304500C>T" "" "" "" "MYH8(NM_002472.3):c.3117G>A (p.G1039=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10401183C>T" "" "benign" "" "0000292754" "0" "10" "17" "10304261" "10304261" "subst" "0.494461" "02330" "MYH8_000006" "g.10304261G>A" "" "" "" "MYH8(NM_002472.3):c.3270C>T (p.I1090=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10400944G>A" "" "benign" "" "0000292755" "0" "10" "17" "10299899" "10299899" "subst" "0.000942538" "02330" "MYH8_000004" "g.10299899G>A" "" "" "" "MYH8(NM_002472.3):c.4499C>T (p.T1500M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10396582G>A" "" "benign" "" "0000292756" "0" "50" "17" "10298674" "10298674" "subst" "9.34245E-5" "02330" "MYH8_000003" "g.10298674C>T" "" "" "" "MYH8(NM_002472.3):c.4738G>A (p.A1580T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10395357C>T" "" "VUS" "" "0000292757" "0" "10" "17" "10296486" "10296486" "subst" "0.175537" "02330" "MYH8_000001" "g.10296486G>A" "" "" "" "MYH8(NM_002472.3):c.5208C>T (p.D1736=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10393169G>A" "" "benign" "" "0000296178" "0" "10" "17" "10304261" "10304261" "subst" "0.494461" "02325" "MYH8_000006" "g.10304261G>A" "" "" "" "MYH8(NM_002472.3):c.3270C>T (p.I1090=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10400944G>A" "" "benign" "" "0000296179" "0" "10" "17" "10296486" "10296486" "subst" "0.175537" "02325" "MYH8_000001" "g.10296486G>A" "" "" "" "MYH8(NM_002472.3):c.5208C>T (p.D1736=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10393169G>A" "" "benign" "" "0000299741" "0" "30" "17" "10301897" "10301897" "subst" "0.000670002" "02326" "MYH8_000005" "g.10301897C>T" "" "" "" "MYH8(NM_002472.3):c.4042G>A (p.(Glu1348Lys), p.E1348K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10398580C>T" "" "likely benign" "" "0000343245" "0" "90" "17" "10310241" "10310241" "subst" "0" "02327" "MYH8_000015" "g.10310241C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10406924C>T" "" "pathogenic" "" "0000353738" "0" "50" "17" "10304026" "10304026" "subst" "0" "01164" "MYH8_000016" "g.10304026C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.10400709C>T" "" "VUS" "ACMG" "0000560156" "0" "10" "17" "10295914" "10295914" "subst" "0.00484853" "02325" "MYH8_000017" "g.10295914T>G" "" "" "" "MYH8(NM_002472.3):c.5513A>C (p.E1838A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10392597T>G" "" "benign" "" "0000560157" "0" "30" "17" "10296261" "10296261" "subst" "0.00534779" "01804" "MYH8_000018" "g.10296261G>C" "" "" "" "MYH8(NM_002472.2):c.5350C>G (p.(Arg1784Gly)), MYH8(NM_002472.3):c.5350C>G (p.R1784G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10392944G>C" "" "likely benign" "" "0000560158" "0" "50" "17" "10298491" "10298492" "del" "0" "01943" "MYH8_000019" "g.10298491_10298492del" "" "" "" "MYH8(NM_002472.2):c.4924_4925delAG (p.(Ser1642fs)), MYH8(NM_002472.2):c.4924_4925delAG (p.S1642Ffs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10395174_10395175del" "" "VUS" "" "0000560159" "0" "50" "17" "10298746" "10298746" "subst" "3.25024E-5" "02330" "MYH8_000020" "g.10298746G>A" "" "" "" "MYH8(NM_002472.2):c.4666C>T (p.(His1556Tyr)), MYH8(NM_002472.3):c.4666C>T (p.H1556Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10395429G>A" "" "VUS" "" "0000560160" "0" "50" "17" "10299924" "10299924" "subst" "0" "01804" "MYH8_000021" "g.10299924C>T" "" "" "" "MYH8(NM_002472.2):c.4474G>A (p.(Glu1492Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10396607C>T" "" "VUS" "" "0000560161" "0" "30" "17" "10301897" "10301897" "subst" "0.000670002" "01804" "MYH8_000005" "g.10301897C>T" "" "" "" "MYH8(NM_002472.3):c.4042G>A (p.(Glu1348Lys), p.E1348K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10398580C>T" "" "likely benign" "" "0000560162" "0" "30" "17" "10303756" "10303756" "subst" "0.00655095" "02330" "MYH8_000022" "g.10303756A>G" "" "" "" "MYH8(NM_002472.3):c.3686T>C (p.M1229T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10400439A>G" "" "likely benign" "" "0000560164" "0" "50" "17" "10303909" "10303909" "subst" "4.06072E-6" "01804" "MYH8_000023" "g.10303909C>A" "" "" "" "MYH8(NM_002472.2):c.3533G>T (p.(Arg1178Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10400592C>A" "" "VUS" "" "0000560165" "0" "50" "17" "10303928" "10303928" "subst" "0" "01943" "MYH8_000024" "g.10303928C>A" "" "" "" "MYH8(NM_002472.2):c.3514G>T (p.A1172S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10400611C>A" "" "VUS" "" "0000560166" "0" "30" "17" "10304362" "10304362" "subst" "0.000223412" "01804" "MYH8_000025" "g.10304362C>T" "" "" "" "MYH8(NM_002472.2):c.3254+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10401045C>T" "" "likely benign" "" "0000560168" "0" "30" "17" "10316058" "10316058" "subst" "0" "02330" "MYH8_000027" "g.10316058A>C" "" "" "" "MYH8(NM_002472.3):c.1148-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10412741A>C" "" "likely benign" "" "0000560170" "0" "10" "17" "10318675" "10318675" "subst" "0.001438" "02330" "MYH8_000029" "g.10318675G>A" "" "" "" "MYH8(NM_002472.3):c.675C>T (p.S225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10415358G>A" "" "benign" "" "0000560171" "0" "30" "17" "10318897" "10318897" "subst" "0.0011745" "01804" "MYH8_000030" "g.10318897G>A" "" "" "" "MYH8(NM_002472.2):c.540C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10415580G>A" "" "likely benign" "" "0000560172" "0" "50" "17" "10323401" "10323402" "del" "4.47176E-5" "01943" "MYH8_000031" "g.10323401_10323402del" "" "" "" "MYH8(NM_002472.2):c.143_144delCC (p.S48Lfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10420084_10420085del" "" "VUS" "" "0000616326" "0" "30" "17" "10295914" "10295914" "subst" "0.00484853" "02330" "MYH8_000017" "g.10295914T>G" "" "" "" "MYH8(NM_002472.3):c.5513A>C (p.E1838A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10392597T>G" "" "likely benign" "" "0000616327" "0" "50" "17" "10315984" "10315984" "subst" "0.00110455" "01943" "MYH8_000032" "g.10315984G>T" "" "" "" "MYH8(NM_002472.2):c.1209C>A (p.C403*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10412667G>T" "" "VUS" "" "0000649468" "1" "30" "17" "10295914" "10295914" "subst" "0.00484853" "03575" "MYH8_000017" "g.10295914T>G" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs111567318}" "Germline" "" "rs111567318" "0" "" "" "g.10392597T>G" "" "likely benign" "" "0000649469" "1" "50" "17" "10296176" "10296176" "subst" "0.000527872" "03575" "MYH8_000033" "g.10296176T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201598997}" "Germline" "" "rs201598997" "0" "" "" "g.10392859T>C" "" "VUS" "" "0000649470" "1" "50" "17" "10301936" "10301936" "subst" "0.000190919" "03575" "MYH8_000034" "g.10301936C>T" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs142232788}" "Germline" "" "rs142232788" "0" "" "" "g.10398619C>T" "" "VUS" "" "0000649471" "1" "10" "17" "10302965" "10302965" "subst" "0.00201809" "03575" "MYH8_000035" "g.10302965G>A" "18/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs34953692}" "Germline" "" "rs34953692" "0" "" "" "g.10399648G>A" "" "benign" "" "0000649472" "1" "30" "17" "10303756" "10303756" "subst" "0.00655095" "03575" "MYH8_000022" "g.10303756A>G" "26/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "26 heterozygous; {DB:CLININrs35962914}" "Germline" "" "rs35962914" "0" "" "" "g.10400439A>G" "" "likely benign" "" "0000669371" "3" "30" "17" "10303756" "10303756" "subst" "0.00655095" "03575" "MYH8_000022" "g.10303756A>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs35962914}" "Germline" "" "rs35962914" "0" "" "" "g.10400439A>G" "" "likely benign" "" "0000692246" "0" "50" "17" "10304362" "10304362" "subst" "0.000223412" "01943" "MYH8_000025" "g.10304362C>T" "" "" "" "MYH8(NM_002472.2):c.3254+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726150" "0" "50" "17" "10297589" "10297589" "subst" "4.062E-6" "02327" "MYH8_000036" "g.10297589G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854742" "0" "50" "17" "10301936" "10301936" "subst" "0.000190919" "01943" "MYH8_000034" "g.10301936C>T" "" "" "" "MYH8(NM_002472.2):c.4003G>A (p.A1335T), MYH8(NM_002472.3):c.4003G>A (p.(Ala1335Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854743" "0" "30" "17" "10304054" "10304054" "subst" "0.000280326" "02325" "MYH8_000038" "g.10304054C>A" "" "" "" "MYH8(NM_002472.3):c.3388G>T (p.(Ala1130Ser), p.A1130S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854744" "0" "30" "17" "10312861" "10312861" "subst" "0.00333832" "01943" "MYH8_000039" "g.10312861A>G" "" "" "" "MYH8(NM_002472.2):c.1632T>C (p.P544=), MYH8(NM_002472.3):c.1632T>C (p.P544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854745" "0" "10" "17" "10317716" "10317716" "subst" "1.21962E-5" "02330" "MYH8_000040" "g.10317716C>T" "" "" "" "MYH8(NM_002472.3):c.891G>A (p.K297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000871255" "21" "90" "17" "10310241" "10310241" "subst" "0" "00006" "MYH8_000015" "g.10310241C>T" "" "{PMID:Velmans 2012:34321323}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000873529" "0" "70" "17" "10300194" "10300194" "subst" "2.03029E-5" "00000" "MYH8_000041" "g.10300194C>A" "164" "{PMID:Sun 2018:30076350}" "" "FBN2(NM_001999.3):c.4217G>A(p.C1406Y); MYH8( NM_002472.2):c.4288G>T(p.D1430Y)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.10396877C>A" "" "likely pathogenic" "" "0000893331" "0" "50" "17" "10304704" "10304704" "subst" "4.06075E-6" "02330" "MYH8_000042" "g.10304704T>C" "" "" "" "MYH8(NM_002472.3):c.2996A>G (p.K999R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893332" "0" "30" "17" "10312861" "10312861" "subst" "0.00333832" "02326" "MYH8_000039" "g.10312861A>G" "" "" "" "MYH8(NM_002472.2):c.1632T>C (p.P544=), MYH8(NM_002472.3):c.1632T>C (p.P544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968640" "0" "30" "17" "10301859" "10301859" "subst" "0.000101515" "02326" "MYH8_000043" "g.10301859C>A" "" "" "" "MYH8(NM_002472.3):c.4080G>T (p.L1360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982261" "0" "30" "17" "10295888" "10295888" "subst" "0.000134005" "01804" "MYH8_000044" "g.10295888C>T" "" "" "" "MYH8(NM_002472.3):c.5539G>A (p.(Glu1847Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982262" "0" "50" "17" "10296247" "10296247" "subst" "0" "01804" "MYH8_000045" "g.10296247G>T" "" "" "" "MYH8(NM_002472.3):c.5364C>A (p.(Asn1788Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982263" "0" "10" "17" "10296261" "10296261" "subst" "0.00534779" "02325" "MYH8_000018" "g.10296261G>C" "" "" "" "MYH8(NM_002472.2):c.5350C>G (p.(Arg1784Gly)), MYH8(NM_002472.3):c.5350C>G (p.R1784G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982264" "0" "30" "17" "10298604" "10298604" "subst" "6.09172E-5" "01804" "MYH8_000046" "g.10298604G>A" "" "" "" "MYH8(NM_002472.3):c.4808C>T (p.(Thr1603Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982265" "0" "30" "17" "10298724" "10298724" "subst" "0.000426517" "01804" "MYH8_000047" "g.10298724C>T" "" "" "" "MYH8(NM_002472.3):c.4688G>A (p.(Arg1563His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982266" "0" "30" "17" "10301792" "10301792" "subst" "0.000642005" "01804" "MYH8_000048" "g.10301792T>C" "" "" "" "MYH8(NM_002472.3):c.4147A>G (p.(Ile1383Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982267" "0" "30" "17" "10301936" "10301936" "subst" "0.000190919" "01804" "MYH8_000034" "g.10301936C>T" "" "" "" "MYH8(NM_002472.2):c.4003G>A (p.A1335T), MYH8(NM_002472.3):c.4003G>A (p.(Ala1335Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982268" "0" "50" "17" "10304408" "10304408" "subst" "0" "01804" "MYH8_000049" "g.10304408A>C" "" "" "" "MYH8(NM_002472.3):c.3209T>G (p.(Met1070Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982269" "0" "30" "17" "10310001" "10310001" "subst" "4.06369E-6" "01804" "MYH8_000050" "g.10310001A>T" "" "" "" "MYH8(NM_002472.3):c.2171+6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989357" "0" "50" "17" "10312775" "10312775" "subst" "3.65467E-5" "03779" "MYH8_000052" "g.10312775T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs754437166" "0" "" "" "" "" "VUS" "" "0000989375" "0" "50" "17" "10304036" "10304036" "subst" "0" "03779" "MYH8_000051" "g.10304036C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001002863" "0" "50" "17" "10296500" "10296500" "subst" "4.066E-6" "01804" "MYH8_000053" "g.10296500T>C" "" "" "" "MYH8(NM_002472.2):c.5194A>G (p.(Lys1732Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002864" "0" "50" "17" "10298491" "10298492" "del" "0" "01804" "MYH8_000019" "g.10298491_10298492del" "" "" "" "MYH8(NM_002472.2):c.4924_4925delAG (p.(Ser1642fs)), MYH8(NM_002472.2):c.4924_4925delAG (p.S1642Ffs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002865" "0" "30" "17" "10298591" "10298591" "subst" "0" "01804" "MYH8_000054" "g.10298591C>A" "" "" "" "MYH8(NM_002472.2):c.4821G>T (p.(Glu1607Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002866" "0" "30" "17" "10298623" "10298623" "subst" "2.43671E-5" "01804" "MYH8_000055" "g.10298623C>G" "" "" "" "MYH8(NM_002472.2):c.4789G>C (p.(Val1597Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002867" "0" "30" "17" "10298746" "10298746" "subst" "3.25024E-5" "01804" "MYH8_000020" "g.10298746G>A" "" "" "" "MYH8(NM_002472.2):c.4666C>T (p.(His1556Tyr)), MYH8(NM_002472.3):c.4666C>T (p.H1556Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002868" "0" "50" "17" "10300303" "10300303" "subst" "2.03138E-5" "01804" "MYH8_000056" "g.10300303C>A" "" "" "" "MYH8(NM_002472.2):c.4179G>T (p.(Lys1393Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002869" "0" "50" "17" "10301944" "10301944" "subst" "0" "01804" "MYH8_000057" "g.10301944A>C" "" "" "" "MYH8(NM_002472.2):c.3995T>G (p.(Leu1332Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002870" "0" "30" "17" "10302182" "10302182" "subst" "4.06911E-6" "01804" "MYH8_000058" "g.10302182T>C" "" "" "" "MYH8(NM_002472.2):c.3884A>G (p.(Asp1295Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002871" "0" "50" "17" "10303855" "10303855" "subst" "4.06068E-6" "01804" "MYH8_000059" "g.10303855C>T" "" "" "" "MYH8(NM_002472.2):c.3587G>A (p.(Arg1196Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002872" "0" "50" "17" "10304089" "10304089" "subst" "3.25084E-5" "01804" "MYH8_000060" "g.10304089A>G" "" "" "" "MYH8(NM_002472.2):c.3353T>C (p.(Ile1118Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002873" "0" "50" "17" "10307672" "10307672" "subst" "0" "01804" "MYH8_000061" "g.10307672T>A" "" "" "" "MYH8(NM_002472.2):c.2663A>T (p.(Asn888Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002874" "0" "50" "17" "10314233" "10314233" "subst" "0" "01804" "MYH8_000062" "g.10314233A>C" "" "" "" "MYH8(NM_002472.2):c.1448T>G (p.(Phe483Cys)), MYH8(NM_002472.3):c.1448T>G (p.F483C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002875" "0" "50" "17" "10317583" "10317583" "subst" "0" "01804" "MYH8_000063" "g.10317583C>T" "" "" "" "MYH8(NM_002472.2):c.934G>A (p.(Asp312Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001022228" "0" "50" "17" "10304362" "10304362" "subst" "0.000223412" "04796" "MYH8_000025" "g.10304362C>T" "" "" "" "" "in vitro analysis 293T cells mini-gene exon trapping assay: effect on RNA inclusion of intron sequences" "CLASSIFICATION record" "" "" "0" "" "" "g.10401045C>T" "" "VUS" "" "0001041548" "0" "50" "17" "10298503" "10298503" "subst" "8.12183E-6" "01804" "MYH8_000064" "g.10298503G>T" "" "" "" "MYH8(NM_002472.3):c.4909C>A (p.(Arg1637Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041549" "0" "30" "17" "10300146" "10300146" "subst" "9.7454E-5" "01804" "MYH8_000065" "g.10300146C>G" "" "" "" "MYH8(NM_002472.3):c.4336G>C (p.(Asp1446His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041550" "0" "30" "17" "10304054" "10304054" "subst" "0.000280326" "01804" "MYH8_000038" "g.10304054C>A" "" "" "" "MYH8(NM_002472.3):c.3388G>T (p.(Ala1130Ser), p.A1130S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041551" "0" "30" "17" "10304514" "10304514" "subst" "0" "01804" "MYH8_000066" "g.10304514A>G" "" "" "" "MYH8(NM_002472.3):c.3109-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041552" "0" "50" "17" "10314110" "10314110" "subst" "8.12632E-6" "01804" "MYH8_000067" "g.10314110A>T" "" "" "" "MYH8(NM_002472.3):c.1571T>A (p.(Ile524Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041553" "0" "30" "17" "10322055" "10322055" "subst" "7.73043E-5" "01804" "MYH8_000068" "g.10322055C>T" "" "" "" "MYH8(NM_002472.3):c.418G>A (p.(Glu140Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041554" "0" "30" "17" "10323402" "10323402" "subst" "0.000300825" "01804" "MYH8_000069" "g.10323402G>A" "" "" "" "MYH8(NM_002472.3):c.143C>T (p.(Ser48Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046590" "0" "50" "17" "10314233" "10314233" "subst" "0" "02325" "MYH8_000062" "g.10314233A>C" "" "" "" "MYH8(NM_002472.2):c.1448T>G (p.(Phe483Cys)), MYH8(NM_002472.3):c.1448T>G (p.F483C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MYH8 ## Count = 86 "{{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}}" "0000247440" "00014140" "10" "714" "0" "714" "0" "c.714T>C" "r.(?)" "p.(Thr238=)" "" "0000247445" "00014140" "10" "5074" "0" "5074" "0" "c.5074T>C" "r.(?)" "p.(Trp1692Arg)" "" "0000248380" "00014140" "10" "714" "0" "714" "0" "c.714T>C" "r.(?)" "p.(Thr238=)" "" "0000248422" "00014140" "10" "5074" "0" "5074" "0" "c.5074T>C" "r.(?)" "p.(Trp1692Arg)" "" "0000292747" "00014140" "10" "1701" "0" "1701" "0" "c.1701G>A" "r.(?)" "p.(Gln567=)" "" "0000292748" "00014140" "10" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Ala636Val)" "" "0000292749" "00014140" "10" "2016" "0" "2016" "0" "c.2016C>T" "r.(?)" "p.(Phe672=)" "" "0000292750" "00014140" "10" "2171" "17" "2171" "17" "c.2171+17G>A" "r.(=)" "p.(=)" "" "0000292751" "00014140" "50" "273" "0" "273" "0" "c.273G>C" "r.(?)" "p.(Glu91Asp)" "" "0000292752" "00014140" "50" "3025" "0" "3025" "0" "c.3025A>G" "r.(?)" "p.(Thr1009Ala)" "" "0000292753" "00014140" "10" "3117" "0" "3117" "0" "c.3117G>A" "r.(?)" "p.(Gly1039=)" "" "0000292754" "00014140" "10" "3270" "0" "3270" "0" "c.3270C>T" "r.(?)" "p.(Ile1090=)" "" "0000292755" "00014140" "10" "4499" "0" "4499" "0" "c.4499C>T" "r.(?)" "p.(Thr1500Met)" "" "0000292756" "00014140" "50" "4738" "0" "4738" "0" "c.4738G>A" "r.(?)" "p.(Ala1580Thr)" "" "0000292757" "00014140" "10" "5208" "0" "5208" "0" "c.5208C>T" "r.(?)" "p.(Asp1736=)" "" "0000296178" "00014140" "10" "3270" "0" "3270" "0" "c.3270C>T" "r.(?)" "p.(Ile1090=)" "" "0000296179" "00014140" "10" "5208" "0" "5208" "0" "c.5208C>T" "r.(?)" "p.(Asp1736=)" "" "0000299741" "00014140" "30" "4042" "0" "4042" "0" "c.4042G>A" "r.(?)" "p.(Glu1348Lys)" "" "0000343245" "00014140" "90" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Arg674Gln)" "" "0000353738" "00014140" "50" "3416" "0" "3416" "0" "c.3416G>A" "r.(?)" "p.(Arg1139His)" "" "0000560156" "00014140" "10" "5513" "0" "5513" "0" "c.5513A>C" "r.(?)" "p.(Glu1838Ala)" "" "0000560157" "00014140" "30" "5350" "0" "5350" "0" "c.5350C>G" "r.(?)" "p.(Arg1784Gly)" "" "0000560158" "00014140" "50" "4924" "0" "4925" "0" "c.4924_4925del" "r.(?)" "p.(Ser1642PhefsTer20)" "" "0000560159" "00014140" "50" "4666" "0" "4666" "0" "c.4666C>T" "r.(?)" "p.(His1556Tyr)" "" "0000560160" "00014140" "50" "4474" "0" "4474" "0" "c.4474G>A" "r.(?)" "p.(Glu1492Lys)" "" "0000560161" "00014140" "30" "4042" "0" "4042" "0" "c.4042G>A" "r.(?)" "p.(Glu1348Lys)" "" "0000560162" "00014140" "30" "3686" "0" "3686" "0" "c.3686T>C" "r.(?)" "p.(Met1229Thr)" "" "0000560164" "00014140" "50" "3533" "0" "3533" "0" "c.3533G>T" "r.(?)" "p.(Arg1178Leu)" "" "0000560165" "00014140" "50" "3514" "0" "3514" "0" "c.3514G>T" "r.(?)" "p.(Ala1172Ser)" "" "0000560166" "00014140" "30" "3254" "1" "3254" "1" "c.3254+1G>A" "r.spl?" "p.?" "" "0000560168" "00014140" "30" "1148" "-13" "1148" "-13" "c.1148-13T>G" "r.(=)" "p.(=)" "" "0000560170" "00014140" "10" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Ser225=)" "" "0000560171" "00014140" "30" "540" "0" "540" "0" "c.540C>T" "r.(?)" "p.(Thr180=)" "" "0000560172" "00014140" "50" "143" "0" "144" "0" "c.143_144del" "r.(?)" "p.(Ser48LeufsTer19)" "" "0000616326" "00014140" "30" "5513" "0" "5513" "0" "c.5513A>C" "r.(?)" "p.(Glu1838Ala)" "" "0000616327" "00014140" "50" "1209" "0" "1209" "0" "c.1209C>A" "r.(?)" "p.(Cys403Ter)" "" "0000649468" "00014140" "30" "5513" "0" "5513" "0" "c.5513A>C" "r.(?)" "p.(Glu1838Ala)" "" "0000649469" "00014140" "50" "5435" "0" "5435" "0" "c.5435A>G" "r.(?)" "p.(Lys1812Arg)" "" "0000649470" "00014140" "50" "4003" "0" "4003" "0" "c.4003G>A" "r.(?)" "p.(Ala1335Thr)" "" "0000649471" "00014140" "10" "3757" "0" "3757" "0" "c.3757C>T" "r.(?)" "p.(Arg1253Cys)" "" "0000649472" "00014140" "30" "3686" "0" "3686" "0" "c.3686T>C" "r.(?)" "p.(Met1229Thr)" "" "0000669371" "00014140" "30" "3686" "0" "3686" "0" "c.3686T>C" "r.(?)" "p.(Met1229Thr)" "" "0000692246" "00014140" "50" "3254" "1" "3254" "1" "c.3254+1G>A" "r.spl?" "p.?" "" "0000726150" "00014140" "50" "5143" "0" "5143" "0" "c.5143C>T" "r.(?)" "p.(Arg1715Cys)" "" "0000854742" "00014140" "50" "4003" "0" "4003" "0" "c.4003G>A" "r.(?)" "p.(Ala1335Thr)" "" "0000854743" "00014140" "30" "3388" "0" "3388" "0" "c.3388G>T" "r.(?)" "p.(Ala1130Ser)" "" "0000854744" "00014140" "30" "1632" "0" "1632" "0" "c.1632T>C" "r.(?)" "p.(Pro544=)" "" "0000854745" "00014140" "10" "891" "0" "891" "0" "c.891G>A" "r.(?)" "p.(Lys297=)" "" "0000871255" "00014140" "90" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Arg674Gln)" "" "0000873529" "00014140" "70" "4288" "0" "4288" "0" "c.4288G>T" "r.(?)" "p.(Asp1430Tyr)" "" "0000893331" "00014140" "50" "2996" "0" "2996" "0" "c.2996A>G" "r.(?)" "p.(Lys999Arg)" "" "0000893332" "00014140" "30" "1632" "0" "1632" "0" "c.1632T>C" "r.(?)" "p.(Pro544=)" "" "0000968640" "00014140" "30" "4080" "0" "4080" "0" "c.4080G>T" "r.(?)" "p.(=)" "" "0000982261" "00014140" "30" "5539" "0" "5539" "0" "c.5539G>A" "r.(?)" "p.(Glu1847Lys)" "" "0000982262" "00014140" "50" "5364" "0" "5364" "0" "c.5364C>A" "r.(?)" "p.(Asn1788Lys)" "" "0000982263" "00014140" "10" "5350" "0" "5350" "0" "c.5350C>G" "r.(?)" "p.(Arg1784Gly)" "" "0000982264" "00014140" "30" "4808" "0" "4808" "0" "c.4808C>T" "r.(?)" "p.(Thr1603Met)" "" "0000982265" "00014140" "30" "4688" "0" "4688" "0" "c.4688G>A" "r.(?)" "p.(Arg1563His)" "" "0000982266" "00014140" "30" "4147" "0" "4147" "0" "c.4147A>G" "r.(?)" "p.(Ile1383Val)" "" "0000982267" "00014140" "30" "4003" "0" "4003" "0" "c.4003G>A" "r.(?)" "p.(Ala1335Thr)" "" "0000982268" "00014140" "50" "3209" "0" "3209" "0" "c.3209T>G" "r.(?)" "p.(Met1070Arg)" "" "0000982269" "00014140" "30" "2171" "6" "2171" "6" "c.2171+6T>A" "r.(=)" "p.(=)" "" "0000989357" "00014140" "50" "1718" "0" "1718" "0" "c.1718A>G" "r.(?)" "p.(Lys573Arg)" "" "0000989375" "00014140" "50" "3406" "0" "3406" "0" "c.3406G>A" "r.(?)" "p.(Glu1136Lys)" "" "0001002863" "00014140" "50" "5194" "0" "5194" "0" "c.5194A>G" "r.(?)" "p.(Lys1732Glu)" "" "0001002864" "00014140" "50" "4924" "0" "4925" "0" "c.4924_4925del" "r.(?)" "p.(Ser1642PhefsTer20)" "" "0001002865" "00014140" "30" "4821" "0" "4821" "0" "c.4821G>T" "r.(?)" "p.(Glu1607Asp)" "" "0001002866" "00014140" "30" "4789" "0" "4789" "0" "c.4789G>C" "r.(?)" "p.(Val1597Leu)" "" "0001002867" "00014140" "30" "4666" "0" "4666" "0" "c.4666C>T" "r.(?)" "p.(His1556Tyr)" "" "0001002868" "00014140" "50" "4179" "0" "4179" "0" "c.4179G>T" "r.(?)" "p.(Lys1393Asn)" "" "0001002869" "00014140" "50" "3995" "0" "3995" "0" "c.3995T>G" "r.(?)" "p.(Leu1332Arg)" "" "0001002870" "00014140" "30" "3884" "0" "3884" "0" "c.3884A>G" "r.(?)" "p.(Asp1295Gly)" "" "0001002871" "00014140" "50" "3587" "0" "3587" "0" "c.3587G>A" "r.(?)" "p.(Arg1196Gln)" "" "0001002872" "00014140" "50" "3353" "0" "3353" "0" "c.3353T>C" "r.(?)" "p.(Ile1118Thr)" "" "0001002873" "00014140" "50" "2663" "0" "2663" "0" "c.2663A>T" "r.(?)" "p.(Asn888Ile)" "" "0001002874" "00014140" "50" "1448" "0" "1448" "0" "c.1448T>G" "r.(?)" "p.(Phe483Cys)" "" "0001002875" "00014140" "50" "934" "0" "934" "0" "c.934G>A" "r.(?)" "p.(Asp312Asn)" "" "0001022228" "00014140" "50" "3254" "1" "3254" "1" "c.3254+1G>A" "r.3254_3255ins[A;3254+2_3255-1]" "p.Lys1086Ter" "25i" "0001041548" "00014140" "50" "4909" "0" "4909" "0" "c.4909C>A" "r.(?)" "p.(Arg1637Ser)" "" "0001041549" "00014140" "30" "4336" "0" "4336" "0" "c.4336G>C" "r.(?)" "p.(Asp1446His)" "" "0001041550" "00014140" "30" "3388" "0" "3388" "0" "c.3388G>T" "r.(?)" "p.(Ala1130Ser)" "" "0001041551" "00014140" "30" "3109" "-6" "3109" "-6" "c.3109-6T>C" "r.(=)" "p.(=)" "" "0001041552" "00014140" "50" "1571" "0" "1571" "0" "c.1571T>A" "r.(?)" "p.(Ile524Asn)" "" "0001041553" "00014140" "30" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Glu140Lys)" "" "0001041554" "00014140" "30" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Ser48Phe)" "" "0001046590" "00014140" "50" "1448" "0" "1448" "0" "c.1448T>G" "r.(?)" "p.(Phe483Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000154252" "0000353738" "0000292779" "0000649468" "0000292780" "0000649469" "0000292781" "0000649470" "0000292782" "0000649471" "0000292783" "0000649472" "0000305683" "0000669371" "0000413724" "0000871255" "0000415677" "0000873529"