### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYH14) # 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}}" "MYH14" "myosin, heavy chain 14, non-muscle" "19" "q13.33" "unknown" "NG_011645.1" "UD_132085392017" "" "https://www.LOVD.nl/MYH14" "" "1" "23212" "79784" "608568" "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/MYH14_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2018-10-09 17:04:53" "00000" "2025-07-08 13:22:38" ## 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}}" "00001339" "MYH14" "transcript variant 2" "003" "NM_024729.3" "" "NP_079005.3" "" "" "" "-47" "6742" "5988" "50706885" "50813801" "00000" "2012-09-13 13:27:24" "" "" "00025323" "MYH14" "transcript variant 3" "001" "NM_001145809.1" "" "NP_001139281.1" "" "" "" "-47" "6865" "6111" "50706885" "50813801" "00006" "2018-10-09 17:14:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00350" "DFNA1" "deafness, autosomal dominant, type 1" "AD" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "00006" "2021-12-10 21:51:32" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02309" "DFNA4A" "deafness, autosomal dominant, type 4A (DFNA-4A)" "AD" "600652" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03613" "PNMHH" "neuropathy, peripheral, myopathy, hoarseness, and hearing loss (PNMHH)" "AD" "614369" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MYH14" "02309" "MYH14" "03613" ## Individuals ## Do not remove or alter this header ## ## Count = 82 "{{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" "" "" "" "" "00059151" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059152" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059153" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00080013" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00081425" "" "" "" "1" "" "01779" "" "" "" "" "Korea" "" "0" "" "" "" "" "00207585" "" "" "" "1" "" "02371" "" "" "M" "no" "France" "33y" "0" "" "" "" "" "00269341" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00285298" "" "" "" "1" "" "00004" "{PMID:Donaudy 2004:15015131}, {PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00285299" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285300" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Yang 2005:16222661}" "" "" "" "" "" "0" "" "" "" "" "00285301" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285302" "" "" "" "1" "" "00004" "{PMID:Qing 2014:25289672}" "" "" "" "" "" "0" "" "" "" "" "00285303" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285304" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285305" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285306" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285307" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285308" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285309" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285310" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285311" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285312" "" "" "" "1" "" "00004" "{PMID:Yuen 2015:25621899}" "" "" "" "" "" "0" "" "" "" "" "00285313" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285314" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285315" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285316" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285317" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285318" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285319" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285320" "" "" "" "1" "" "00004" "{PMID:Kim 2005:15845534}, {PMID:Shearer 1993:20301607}, {PMID:Donaudy 2004:15015131}" "" "" "" "" "" "0" "" "" "" "" "00285321" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00285322" "" "" "" "1" "" "00004" "{PMID:Qing 2014:25289672}" "" "" "" "" "" "0" "" "" "" "" "00285323" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285324" "" "" "" "1" "" "00004" "{PMID:Choi 2011:21480433}" "" "" "" "" "" "0" "" "" "" "" "00285325" "" "" "" "1" "" "00004" "{PMID:Donaudy 2004:15015131}, {PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00285326" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285327" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285328" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285329" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285330" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00285331" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285332" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285333" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285334" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285335" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285336" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285337" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285338" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285339" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285340" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285341" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285342" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285343" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285344" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285345" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00285346" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285347" "" "" "" "1" "" "00004" "{PMID:Vona 2014:24875298}" "" "" "" "" "" "0" "" "" "" "" "00285348" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285349" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285350" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285351" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285352" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285353" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285354" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285355" "" "" "" "1" "" "00004" "{PMID:Zhang 1998:9710612}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285356" "" "" "" "1" "" "00004" "{PMID:Shearer 2010:21078986}" "" "" "" "" "" "0" "" "" "" "" "00285357" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00287377" "" "" "" "1" "" "03564" "" "" "F" "?" "Belgium" "20y" "0" "" "" "" "" "00292183" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292184" "" "" "" "26" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292185" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292186" "" "" "" "20" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309872" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "HL026" "00314370" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00327011" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB296-595" "00362254" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "no" "Iran" "" "0" "" "" "" "Pat44" "00408948" "" "" "" "1" "" "00000" "{PMID:Lerat-2019:31393079}" "" "M" "" "France" "" "0" "" "" "French" "XII" "00414350" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP17" "00428670" "" "" "" "2" "" "04147" "{PMID:Wonkam 2022:35440622}" "3-generation family, 3 affected sisters" "F" "no" "Ghana" "" "" "" "" "Africa" "Fam28" "00441491" "" "" "" "2" "" "00006" "{PMID:Boucher 2020:33229591}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "33016" "00441521" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "3920" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 35 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00059151" "00531" "00059152" "00531" "00059153" "00531" "00080013" "05103" "00081425" "05086" "00207585" "05113" "00269341" "00198" "00285298" "00198" "00285300" "00198" "00285302" "05086" "00285312" "00138" "00285320" "00198" "00285321" "05103" "00285322" "05086" "00285324" "05086" "00285325" "00198" "00285330" "05103" "00285345" "05103" "00285347" "05086" "00285356" "05086" "00287377" "05126" "00292183" "00198" "00292184" "00198" "00292185" "00198" "00292186" "00198" "00309872" "05086" "00314370" "05126" "00327011" "00350" "00362254" "05415" "00408948" "04214" "00414350" "00198" "00428670" "02309" "00441491" "05086" "00441521" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00198, 00350, 00531, 01157, 02309, 03613, 04214, 05086, 05103, 05113, 05126, 05415 ## Count = 25 "{{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}}" "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" "" "" "" "" "" "" "" "" "" "0000143695" "05086" "00081425" "01779" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000155396" "05113" "00207585" "02371" "Familial, autosomal dominant" "33y" "sensori-motor demyelinating neuropathy and severe auditory neuropathy" "05y" "" "20y" "MYH14" "" "" "" "" "" "" "" "0000207173" "00198" "00269341" "01164" "Unknown" "" "Abnormality of central motor function (HP:0011442); Abnormality of muscle morphology (HP:0011805); Seizures (HP:0001250); Abnormality of nervous system physiology (HP:0012638); Tetraparesis (HP:0002273); Myofibrillar myopathy (HP:0003715)" "" "" "" "" "" "" "" "" "" "" "" "0000216408" "00138" "00285312" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Autism spectrum disorder" "" "0000217215" "00198" "00285298" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing impairment" "" "0000217216" "00198" "00285300" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing impairment" "" "0000217217" "00198" "00285320" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing impairment" "" "0000217218" "00198" "00285325" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing impairment" "" "0000218300" "05086" "00285302" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal dominant" "" "0000218301" "05086" "00285322" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal dominant" "" "0000218302" "05086" "00285324" "00008" "Unknown" "" "peripheral neuropathy, myopathy" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218303" "05086" "00285347" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218304" "05086" "00285356" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal dominant" "" "0000218635" "05103" "00285321" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218636" "05103" "00285330" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 4" "deafness, autosomal dominant" "" "0000218637" "05103" "00285345" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000221979" "05126" "00287377" "03564" "Unknown" "19y" "psoas weakness, pelvic girdle weakness, tibialis anterior weakness, easy fatigability" "12y" "19y" "proximal lower-limb weakness" "" "" "" "" "" "" "muscular dystrophy" "" "0000235187" "05086" "00309872" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000257668" "05415" "00362254" "02404" "Familial, autosomal recessive" "" "Bilateral moderate high-frequency\r\nhearing loss, severely reduced visual acuity, photophobia, nyctalopia, severe macular\r\natrophy, diffuse pigmentary changes, and mottling with notable diminished central macular thickness" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000301066" "04214" "00408948" "00000" "Familial, autosomal dominant" "33y" "tomacular neuropathy, severe auditory neuropathy hearing loss" "20y" "" "Sensori?motor Demyelinating, pes cavus" "" "" "" "" "" "" "inherited peripheral neuropathy (IPN)" "" "0000306185" "00198" "00414350" "00000" "Unknown" "31y" "Charcot-Marie-Tooth disease;Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss" "" "" "" "" "" "" "" "" "" "" "" "0000319575" "02309" "00428670" "04147" "Familial, autosomal dominant" "" "" "" "" "HP:0000399" "" "" "" "" "" "DFNA4A" "Non-syndromic hearing impairment" "" "0000330929" "05086" "00441491" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "" "0000330959" "05086" "00441521" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 82 "{{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" "" "" "0000059125" "00059151" "1" "01551" "01551" "2016-02-29 11:05:01" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059126" "00059152" "1" "01551" "01551" "2016-02-29 11:07:36" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059127" "00059153" "1" "01551" "01551" "2016-02-29 11:09:31" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000080091" "00080013" "1" "01740" "01740" "2016-09-01 11:55:31" "" "" "SEQ-NG" "DNA" "" "" "0000081539" "00081425" "1" "01779" "01779" "2016-10-11 10:36:59" "" "" "SEQ-NG" "DNA" "blood" "" "0000208622" "00207585" "1" "02371" "02371" "2018-11-25 18:32:30" "" "" "SEQ-NG" "DNA" "" "" "0000270483" "00269341" "1" "01164" "01164" "2019-11-20 18:18:22" "" "" "SEQ-NG-S" "DNA" "" "" "0000286448" "00285298" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286449" "00285299" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286450" "00285300" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286451" "00285301" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286452" "00285302" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286453" "00285303" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286454" "00285304" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286455" "00285305" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286456" "00285306" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286457" "00285307" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286458" "00285308" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286459" "00285309" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286460" "00285310" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286461" "00285311" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286462" "00285312" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286463" "00285313" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286464" "00285314" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286465" "00285315" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286466" "00285316" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286467" "00285317" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286468" "00285318" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286469" "00285319" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286470" "00285320" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286471" "00285321" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286472" "00285322" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286473" "00285323" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286474" "00285324" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286475" "00285325" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286476" "00285326" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286477" "00285327" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286478" "00285328" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286479" "00285329" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286480" "00285330" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286481" "00285331" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286482" "00285332" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286483" "00285333" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286484" "00285334" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286485" "00285335" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286486" "00285336" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286487" "00285337" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286488" "00285338" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286489" "00285339" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286490" "00285340" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286491" "00285341" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286492" "00285342" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286493" "00285343" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286494" "00285344" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286495" "00285345" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286496" "00285346" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286497" "00285347" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286498" "00285348" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286499" "00285349" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286500" "00285350" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286501" "00285351" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286502" "00285352" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286503" "00285353" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286504" "00285354" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286505" "00285355" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286506" "00285356" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286507" "00285357" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000288548" "00287377" "1" "03564" "03564" "2020-02-14 15:25:43" "" "" "-" "DNA" "blood" "" "0000293351" "00292183" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293352" "00292184" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293353" "00292185" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293354" "00292186" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000311016" "00309872" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315543" "00314370" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328226" "00327011" "1" "03611" "03611" "2021-01-19 02:53:39" "" "" "SEQ-NG-I" "DNA" "" "" "0000363483" "00362254" "1" "02404" "02404" "2021-04-17 14:41:52" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000410213" "00408948" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood" "" "0000415630" "00414350" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000430083" "00428670" "1" "04147" "04147" "2023-01-06 13:19:49" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000442977" "00441491" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443007" "00441521" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 68 "{{screeningid}}" "{{geneid}}" "0000059125" "MYH14" "0000059126" "MYH14" "0000059127" "MYH14" "0000081539" "MYH14" "0000208622" "MYH14" "0000286448" "MYH14" "0000286449" "MYH14" "0000286450" "MYH14" "0000286451" "MYH14" "0000286452" "MYH14" "0000286453" "MYH14" "0000286454" "MYH14" "0000286455" "MYH14" "0000286456" "MYH14" "0000286457" "MYH14" "0000286458" "MYH14" "0000286459" "MYH14" "0000286460" "MYH14" "0000286461" "MYH14" "0000286462" "MYH14" "0000286463" "MYH14" "0000286464" "MYH14" "0000286465" "MYH14" "0000286466" "MYH14" "0000286467" "MYH14" "0000286468" "MYH14" "0000286469" "MYH14" "0000286470" "MYH14" "0000286471" "MYH14" "0000286472" "MYH14" "0000286473" "MYH14" "0000286474" "MYH14" "0000286475" "MYH14" "0000286476" "MYH14" "0000286477" "MYH14" "0000286478" "MYH14" "0000286479" "MYH14" "0000286480" "MYH14" "0000286481" "MYH14" "0000286482" "MYH14" "0000286483" "MYH14" "0000286484" "MYH14" "0000286485" "MYH14" "0000286486" "MYH14" "0000286487" "MYH14" "0000286488" "MYH14" "0000286489" "MYH14" "0000286490" "MYH14" "0000286491" "MYH14" "0000286492" "MYH14" "0000286493" "MYH14" "0000286494" "MYH14" "0000286495" "MYH14" "0000286496" "MYH14" "0000286497" "MYH14" "0000286498" "MYH14" "0000286499" "MYH14" "0000286500" "MYH14" "0000286501" "MYH14" "0000286502" "MYH14" "0000286503" "MYH14" "0000286504" "MYH14" "0000286505" "MYH14" "0000286506" "MYH14" "0000286507" "MYH14" "0000315543" "MYH14" "0000410213" "PMP22" "0000415630" "PMP22" ## 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 = 361 "{{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}}" "0000013841" "0" "50" "19" "50757002" "50757002" "subst" "0" "00037" "MYH14_000001" "g.50757002C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50253745C>T" "" "VUS" "" "0000089924" "0" "50" "19" "50721005" "50721005" "subst" "0" "01551" "MYH14_000004" "g.50721005G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.50217748G>A" "" "VUS" "" "0000089925" "0" "50" "19" "50750363" "50750363" "subst" "4.08714E-6" "01551" "MYH14_000005" "g.50750363C>G" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.50247106C>G" "" "VUS" "" "0000089926" "0" "50" "19" "50771526" "50771526" "subst" "0" "01551" "MYH14_000002" "g.50771526G>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.50268269G>T" "" "VUS" "" "0000089927" "0" "50" "19" "50781514" "50781514" "subst" "0" "01551" "MYH14_000003" "g.50781514G>C" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.50278257G>C" "" "VUS" "" "0000128970" "1" "70" "19" "50795566" "50795566" "subst" "4.56629E-5" "01740" "MYH14_000006" "g.50795566C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.50292309C>T" "" "likely pathogenic" "" "0000132195" "11" "70" "19" "50726349" "50726349" "subst" "0" "01779" "MYH14_000007" "g.50726349A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50223092A>G" "" "likely pathogenic" "" "0000132196" "0" "90" "19" "50713695" "50713695" "subst" "0" "01779" "MYH14_000008" "g.50713695C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50210438C>T" "" "pathogenic" "" "0000247563" "0" "10" "19" "50762418" "50762418" "subst" "0.773048" "02330" "MYH14_000037" "g.50762418A>G" "" "" "" "MYH14(NM_001145809.2):c.2250A>G (p.P750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50259161A>G" "" "benign" "" "0000247584" "0" "10" "19" "50812948" "50812948" "subst" "0.00276947" "02330" "MYH14_000076" "g.50812948A>T" "" "" "" "MYH14(NM_001145809.2):c.6012A>T (p.L2004=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50309691A>T" "" "benign" "" "0000247608" "0" "10" "19" "50771409" "50771409" "subst" "0.139729" "02330" "MYH14_000042" "g.50771409A>C" "" "" "" "MYH14(NM_001145809.2):c.2827-9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50268152A>C" "" "benign" "" "0000247613" "0" "30" "19" "50770202" "50770202" "subst" "0.000880708" "02330" "MYH14_000041" "g.50770202A>G" "" "" "" "MYH14(NM_001145809.2):c.2763A>G (p.K921=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50266945A>G" "" "likely benign" "" "0000247647" "0" "50" "19" "50760657" "50760657" "subst" "8.49553E-6" "02330" "MYH14_000035" "g.50760657A>C" "" "" "" "MYH14(NM_001145809.2):c.2146A>C (p.K716Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50257400A>C" "" "VUS" "" "0000248389" "0" "10" "19" "50762418" "50762418" "subst" "0.773048" "02325" "MYH14_000037" "g.50762418A>G" "" "" "" "MYH14(NM_001145809.2):c.2250A>G (p.P750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50259161A>G" "" "benign" "" "0000254527" "0" "30" "19" "50730175" "50730175" "subst" "0.00102801" "01943" "MYH14_000023" "g.50730175A>G" "" "" "" "MYH14(NM_001145809.1):c.826A>G (p.I276V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50226918A>G" "" "likely benign" "" "0000254770" "0" "30" "19" "50792739" "50792739" "subst" "1.63709E-5" "01943" "MYH14_000060" "g.50792739A>G" "" "" "" "MYH14(NM_001145809.1):c.4799A>G (p.N1600S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50289482A>G" "" "likely benign" "" "0000255067" "0" "30" "19" "50728907" "50728907" "subst" "1.22147E-5" "01943" "MYH14_000021" "g.50728907A>G" "" "" "" "MYH14(NM_001145809.1):c.783A>G (p.T261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50225650A>G" "" "likely benign" "" "0000255911" "0" "50" "19" "50794277" "50794277" "subst" "0" "01943" "MYH14_000064" "g.50794277A>C" "" "" "" "MYH14(NM_001145809.1):c.5099A>C (p.E1700A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50291020A>C" "" "VUS" "" "0000280380" "0" "10" "19" "50735340" "50735340" "subst" "0.35817" "02330" "MYH14_000024" "g.50735340C>T" "" "" "" "MYH14(NM_001145809.2):c.1114+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50232083C>T" "" "benign" "" "0000280381" "0" "10" "19" "50747533" "50747533" "subst" "0.0654888" "02330" "MYH14_000025" "g.50747533T>C" "" "" "" "MYH14(NM_001145809.2):c.1149T>C (p.F383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50244276T>C" "" "benign" "" "0000280382" "0" "10" "19" "50750394" "50750394" "subst" "0.00272047" "02330" "MYH14_000027" "g.50750394C>T" "" "" "" "MYH14(NM_001145809.2):c.1329+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50247137C>T" "" "benign" "" "0000280383" "0" "10" "19" "50750395" "50750395" "subst" "0.00216515" "02330" "MYH14_000028" "g.50750395G>A" "" "" "" "MYH14(NM_001145809.2):c.1329+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50247138G>A" "" "benign" "" "0000280384" "0" "10" "19" "50752897" "50752897" "subst" "0.0845318" "02330" "MYH14_000030" "g.50752897G>A" "" "" "" "MYH14(NM_001145809.2):c.1483-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50249640G>A" "" "benign" "" "0000280385" "0" "30" "19" "50753822" "50753822" "subst" "9.76666E-5" "02330" "MYH14_000031" "g.50753822G>C" "" "" "" "MYH14(NM_001145809.2):c.1707G>C (p.P569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50250565G>C" "" "likely benign" "" "0000280386" "0" "10" "19" "50753870" "50753870" "subst" "0.0844776" "02330" "MYH14_000032" "g.50753870C>T" "" "" "" "MYH14(NM_001145809.2):c.1755C>T (p.G585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50250613C>T" "" "benign" "" "0000280387" "0" "10" "19" "50755955" "50755955" "subst" "0.0225887" "02330" "MYH14_000033" "g.50755955C>T" "" "" "" "MYH14(NM_001145809.2):c.1890C>T (p.V630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50252698C>T" "" "benign" "" "0000280388" "0" "10" "19" "50713814" "50713814" "subst" "0.00226834" "02330" "MYH14_000011" "g.50713814G>T" "" "" "" "MYH14(NM_001145809.1):c.192G>T (p.G64=), MYH14(NM_001145809.2):c.192G>T (p.G64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50210557G>T" "" "benign" "" "0000280389" "0" "10" "19" "50760716" "50760716" "subst" "0.381629" "02330" "MYH14_000036" "g.50760716C>G" "" "" "" "MYH14(NM_001145809.2):c.2205C>G (p.R735=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50257459C>G" "" "benign" "" "0000280390" "0" "10" "19" "50763889" "50763889" "subst" "0.454327" "02330" "MYH14_000038" "g.50763889C>T" "" "" "" "MYH14(NM_001145809.2):c.2355-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50260632C>T" "" "benign" "" "0000280391" "0" "30" "19" "50766550" "50766550" "subst" "0.00164216" "02330" "MYH14_000039" "g.50766550C>G" "" "" "" "MYH14(NM_001145809.2):c.2586-19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50263293C>G" "" "likely benign" "" "0000280392" "0" "30" "19" "50766628" "50766628" "subst" "0.000277042" "02330" "MYH14_000040" "g.50766628C>T" "" "" "" "MYH14(NM_001077186.1):c.2546C>T (p.(Ala849Val)), MYH14(NM_001145809.1):c.2645C>T (p.A882V), MYH14(NM_001145809.2):c.2645C>T (p.A882V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50263371C>T" "" "likely benign" "" "0000280393" "0" "10" "19" "50771432" "50771432" "subst" "0.00973365" "02330" "MYH14_000043" "g.50771432C>T" "" "" "" "MYH14(NM_001145809.2):c.2841C>T (p.R947=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50268175C>T" "" "benign" "" "0000280394" "0" "50" "19" "50771455" "50771455" "subst" "0.000109791" "02330" "MYH14_000044" "g.50771455G>A" "" "" "" "MYH14(NM_001145809.2):c.2864G>A (p.R955Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50268198G>A" "" "VUS" "" "0000280395" "0" "10" "19" "50771609" "50771609" "subst" "0.559849" "02330" "MYH14_000045" "g.50771609G>A" "" "" "" "MYH14(NM_001145809.2):c.3018G>A (p.L1006=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50268352G>A" "" "benign" "" "0000280396" "0" "10" "19" "50771635" "50771635" "subst" "0.879656" "02330" "MYH14_000046" "g.50771635T>C" "" "" "" "MYH14(NM_001145809.2):c.3033+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50268378T>C" "" "benign" "" "0000280397" "0" "10" "19" "50713655" "50713655" "subst" "0.0244064" "02330" "MYH14_000009" "g.50713655G>C" "" "" "" "MYH14(NM_001145809.1):c.33G>C (p.R11=), MYH14(NM_001145809.2):c.33G>C (p.R11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50210398G>C" "" "benign" "" "0000280398" "0" "10" "19" "50779245" "50779245" "subst" "0.0175646" "02330" "MYH14_000048" "g.50779245C>T" "" "" "" "MYH14(NM_001145809.2):c.3468-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50275988C>T" "" "benign" "" "0000280399" "0" "10" "19" "50779469" "50779469" "subst" "0.184045" "02330" "MYH14_000050" "g.50779469C>T" "" "" "" "MYH14(NM_001145809.2):c.3680+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50276212C>T" "" "benign" "" "0000280400" "0" "10" "19" "50780082" "50780082" "subst" "0.0190193" "02330" "MYH14_000051" "g.50780082C>A" "" "" "" "MYH14(NM_001145809.2):c.3749C>A (p.A1250E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50276825C>A" "" "benign" "" "0000280401" "0" "30" "19" "50783355" "50783355" "subst" "0.00150474" "02330" "MYH14_000053" "g.50783355G>A" "" "" "" "MYH14(NM_001145809.1):c.4094G>A (p.S1365N), MYH14(NM_001145809.2):c.4094G>A (p.S1365N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50280098G>A" "" "likely benign" "" "0000280402" "0" "30" "19" "50789795" "50789795" "subst" "0" "02330" "MYH14_000056" "g.50789795C>A" "" "" "" "MYH14(NM_001145809.2):c.4596C>A (p.A1532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50286538C>A" "" "likely benign" "" "0000280403" "0" "10" "19" "50720940" "50720940" "subst" "0.0284614" "02330" "MYH14_000012" "g.50720940T>C" "" "" "" "MYH14(NM_001145809.2):c.474T>C (p.I158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50217683T>C" "" "benign" "" "0000280404" "0" "10" "19" "50789967" "50789967" "subst" "0.0952107" "02330" "MYH14_000058" "g.50789967G>A" "" "" "" "MYH14(NM_001145809.2):c.4752+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50286710G>A" "" "benign" "" "0000280405" "0" "10" "19" "50792684" "50792684" "subst" "0.0231481" "02330" "MYH14_000059" "g.50792684C>T" "" "" "" "MYH14(NM_001145809.2):c.4753-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50289427C>T" "" "benign" "" "0000280406" "0" "30" "19" "50720949" "50720949" "subst" "0.00970614" "02330" "MYH14_000013" "g.50720949G>A" "" "" "" "MYH14(NM_001077186.1):c.483G>A (p.(Met161Ile)), MYH14(NM_001145809.2):c.483G>A (p.M161I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50217692G>A" "" "likely benign" "" "0000280407" "0" "10" "19" "50792917" "50792917" "subst" "4.5566E-6" "02330" "MYH14_000061" "g.50792917C>T" "" "" "" "MYH14(NM_001145809.2):c.4965+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50289660C>T" "" "benign" "" "0000280408" "0" "50" "19" "50794208" "50794208" "subst" "5.02977E-5" "02330" "MYH14_000062" "g.50794208G>A" "" "" "" "MYH14(NM_001145809.2):c.5030G>A (p.R1677H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50290951G>A" "" "VUS" "" "0000280409" "0" "30" "19" "50794261" "50794261" "subst" "0.000186448" "02330" "MYH14_000063" "g.50794261G>C" "" "" "" "MYH14(NM_001077186.1):c.4984G>C (p.(Gly1662Arg)), MYH14(NM_001145809.1):c.5083G>C (p.G1695R), MYH14(NM_001145809.2):c.5083G>C (p.G1695R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50291004G>C" "" "likely benign" "" "0000280410" "0" "10" "19" "50795617" "50795617" "subst" "0.00173144" "02330" "MYH14_000067" "g.50795617C>T" "" "" "" "MYH14(NM_001145809.1):c.5227C>T (p.L1743=), MYH14(NM_001145809.2):c.5227C>T (p.L1743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50292360C>T" "" "benign" "" "0000280411" "0" "30" "19" "50796567" "50796567" "subst" "0.00210467" "02330" "MYH14_000068" "g.50796567T>C" "" "" "" "MYH14(NM_001145809.2):c.5334T>C (p.G1778=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50293310T>C" "" "likely benign" "" "0000280412" "0" "50" "19" "50796826" "50796826" "subst" "4.08067E-6" "02330" "MYH14_000069" "g.50796826C>A" "" "" "" "MYH14(NM_001145809.2):c.5351C>A (p.A1784D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50293569C>A" "" "VUS" "" "0000280413" "0" "50" "19" "50796904" "50796904" "subst" "8.30737E-6" "02330" "MYH14_000070" "g.50796904C>T" "" "" "" "MYH14(NM_001145809.2):c.5429C>T (p.S1810L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50293647C>T" "" "VUS" "" "0000280414" "0" "10" "19" "50796905" "50796905" "subst" "0.756784" "02330" "MYH14_000071" "g.50796905G>A" "" "" "" "MYH14(NM_001145809.2):c.5430G>A (p.S1810=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50293648G>A" "" "benign" "" "0000280415" "0" "10" "19" "50796960" "50796960" "subst" "0.753771" "02330" "MYH14_000072" "g.50796960C>T" "" "" "" "MYH14(NM_001145809.2):c.5469+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50293703C>T" "" "benign" "" "0000280416" "0" "50" "19" "50721014" "50721014" "subst" "8.15874E-6" "02330" "MYH14_000014" "g.50721014G>A" "" "" "" "MYH14(NM_001145809.2):c.548G>A (p.R183Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50217757G>A" "" "VUS" "" "0000280417" "0" "10" "19" "50726319" "50726319" "subst" "0.269528" "02330" "MYH14_000015" "g.50726319C>G" "" "" "" "MYH14(NM_001145809.2):c.563-21C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50223062C>G" "" "benign" "" "0000280418" "0" "10" "19" "50812342" "50812342" "subst" "0.00784583" "02330" "MYH14_000074" "g.50812342C>T" "" "" "" "MYH14(NM_001145809.2):c.5868C>T (p.A1956=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50309085C>T" "" "benign" "" "0000280419" "0" "10" "19" "50726570" "50726570" "subst" "0.569655" "02330" "MYH14_000016" "g.50726570G>A" "" "" "" "MYH14(NM_001145809.2):c.657G>A (p.A219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50223313G>A" "" "benign" "" "0000280420" "0" "30" "19" "50726618" "50726618" "subst" "0.000211527" "02330" "MYH14_000017" "g.50726618C>T" "" "" "" "MYH14(NM_001145809.2):c.693+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50223361C>T" "" "likely benign" "" "0000280421" "0" "10" "19" "50727391" "50727391" "subst" "0.014222" "02330" "MYH14_000018" "g.50727391G>A" "" "" "" "MYH14(NM_001145809.2):c.694-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50224134G>A" "" "benign" "" "0000280422" "0" "50" "19" "50728855" "50728855" "subst" "2.07512E-5" "02330" "MYH14_000019" "g.50728855G>A" "" "" "" "MYH14(NM_001145809.2):c.731G>A (p.R244Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50225598G>A" "" "VUS" "" "0000280423" "0" "50" "19" "50728876" "50728876" "subst" "2.85836E-5" "02330" "MYH14_000020" "g.50728876C>A" "" "" "" "MYH14(NM_001145809.1):c.752C>A (p.P251H), MYH14(NM_001145809.2):c.752C>A (p.P251H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50225619C>A" "" "VUS" "" "0000280424" "0" "10" "19" "50713713" "50713713" "subst" "0.16682" "02330" "MYH14_000010" "g.50713713C>A" "" "" "" "MYH14(NM_001145809.2):c.91C>A (p.P31T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50210456C>A" "" "benign" "" "0000282791" "0" "10" "19" "50735340" "50735340" "subst" "0.35817" "02325" "MYH14_000024" "g.50735340C>T" "" "" "" "MYH14(NM_001145809.2):c.1114+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50232083C>T" "" "benign" "" "0000282792" "0" "10" "19" "50760716" "50760716" "subst" "0.381629" "02325" "MYH14_000036" "g.50760716C>G" "" "" "" "MYH14(NM_001145809.2):c.2205C>G (p.R735=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50257459C>G" "" "benign" "" "0000282793" "0" "10" "19" "50796905" "50796905" "subst" "0.756784" "02325" "MYH14_000071" "g.50796905G>A" "" "" "" "MYH14(NM_001145809.2):c.5430G>A (p.S1810=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50293648G>A" "" "benign" "" "0000282794" "0" "10" "19" "50796960" "50796960" "subst" "0.753771" "02325" "MYH14_000072" "g.50796960C>T" "" "" "" "MYH14(NM_001145809.2):c.5469+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50293703C>T" "" "benign" "" "0000282795" "0" "10" "19" "50726570" "50726570" "subst" "0.569655" "02325" "MYH14_000016" "g.50726570G>A" "" "" "" "MYH14(NM_001145809.2):c.657G>A (p.A219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50223313G>A" "" "benign" "" "0000285491" "0" "10" "19" "50818020" "50818020" "subst" "0.00750987" "02326" "MYH14_000152" "g.50818020T>A" "" "" "" "KCNC3(NR_110912.2):n.547A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50314763T>A" "" "benign" "" "0000292458" "0" "30" "19" "50747534" "50747534" "subst" "0.00297069" "01943" "MYH14_000026" "g.50747534G>T" "" "" "" "MYH14(NM_001145809.1):c.1150G>T (p.G384C), MYH14(NM_001145809.2):c.1150G>T (p.G384C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50244277G>T" "" "likely benign" "" "0000292459" "0" "30" "19" "50752333" "50752333" "subst" "7.45124E-5" "01943" "MYH14_000029" "g.50752333C>T" "" "" "" "MYH14(NM_001145809.1):c.1419C>T (p.R473=), MYH14(NM_001145809.2):c.1419C>T (p.R473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50249076C>T" "" "likely benign" "" "0000292460" "0" "50" "19" "50758525" "50758525" "subst" "0.000100885" "01943" "MYH14_000034" "g.50758525C>T" "" "" "" "MYH14(NM_001145809.1):c.1994C>T (p.S665L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50255268C>T" "" "VUS" "" "0000292462" "0" "50" "19" "50779379" "50779379" "subst" "0" "01943" "MYH14_000049" "g.50779379G>A" "" "" "" "MYH14(NM_001145809.1):c.3599G>A (p.R1200Q), MYH14(NM_001145809.2):c.3599G>A (p.R1200Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50276122G>A" "" "VUS" "" "0000292463" "0" "50" "19" "50780105" "50780105" "subst" "2.86582E-5" "01943" "MYH14_000052" "g.50780105C>T" "" "" "" "MYH14(NM_001145809.1):c.3772C>T (p.R1258C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50276848C>T" "" "VUS" "" "0000292464" "0" "10" "19" "50783605" "50783605" "subst" "0.00100757" "01943" "MYH14_000054" "g.50783605C>T" "" "" "" "MYH14(NM_001145809.1):c.4255C>T (p.R1419W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50280348C>T" "" "benign" "" "0000292465" "0" "30" "19" "50783643" "50783643" "subst" "0" "01943" "MYH14_000055" "g.50783643G>A" "" "" "" "MYH14(NM_001145809.1):c.4290+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50280386G>A" "" "likely benign" "" "0000292466" "0" "30" "19" "50789930" "50789930" "subst" "5.35802E-5" "01943" "MYH14_000057" "g.50789930C>T" "" "" "" "MYH14(NM_001145809.1):c.4731C>T (p.S1577=), MYH14(NM_001145809.2):c.4731C>T (p.S1577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50286673C>T" "" "likely benign" "" "0000292467" "0" "50" "19" "50795539" "50795539" "subst" "0" "01943" "MYH14_000065" "g.50795539C>T" "" "" "" "MYH14(NM_001145809.1):c.5149C>T (p.R1717W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50292282C>T" "" "VUS" "" "0000292468" "0" "30" "19" "50795604" "50795604" "subst" "0" "01943" "MYH14_000066" "g.50795604G>A" "" "" "" "MYH14(NM_001145809.1):c.5214G>A (p.K1738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50292347G>A" "" "likely benign" "" "0000292469" "0" "30" "19" "50795617" "50795617" "subst" "0.00173144" "01943" "MYH14_000067" "g.50795617C>T" "" "" "" "MYH14(NM_001145809.1):c.5227C>T (p.L1743=), MYH14(NM_001145809.2):c.5227C>T (p.L1743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50292360C>T" "" "likely benign" "" "0000292470" "0" "50" "19" "50804978" "50804978" "subst" "2.03318E-5" "01943" "MYH14_000073" "g.50804978G>A" "" "" "" "MYH14(NM_001145809.1):c.5530G>A (p.G1844R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50301721G>A" "" "VUS" "" "0000292471" "0" "50" "19" "50812362" "50812362" "subst" "1.62467E-5" "01943" "MYH14_000075" "g.50812362G>A" "" "" "" "MYH14(NM_001145809.1):c.5888G>A (p.R1963H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50309105G>A" "" "VUS" "" "0000292472" "0" "10" "19" "50728955" "50728955" "subst" "0.270703" "01943" "MYH14_000022" "g.50728955G>A" "" "" "" "MYH14(NM_001145809.1):c.810+21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50225698G>A" "" "benign" "" "0000338341" "0" "10" "19" "50771409" "50771409" "subst" "0.139729" "02327" "MYH14_000042" "g.50771409A>C" "" "" "" "MYH14(NM_001145809.2):c.2827-9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50268152A>C" "" "benign" "" "0000338342" "0" "10" "19" "50771635" "50771635" "subst" "0.879656" "02327" "MYH14_000046" "g.50771635T>C" "" "" "" "MYH14(NM_001145809.2):c.3033+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50268378T>C" "" "benign" "" "0000338343" "0" "10" "19" "50779469" "50779469" "subst" "0.184045" "02327" "MYH14_000050" "g.50779469C>T" "" "" "" "MYH14(NM_001145809.2):c.3680+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50276212C>T" "" "benign" "" "0000339059" "0" "50" "19" "50764843" "50764843" "subst" "0" "02327" "MYH14_000082" "g.50764843G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50261586G>A" "" "VUS" "" "0000340830" "0" "10" "19" "50771609" "50771609" "subst" "0.559849" "02327" "MYH14_000045" "g.50771609G>A" "" "" "" "MYH14(NM_001145809.2):c.3018G>A (p.L1006=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50268352G>A" "" "benign" "" "0000341435" "0" "50" "19" "50750315" "50750315" "subst" "9.78857E-5" "02327" "MYH14_000079" "g.50750315C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50247058C>G" "" "VUS" "" "0000341744" "0" "50" "19" "50775925" "50775925" "subst" "0.000198263" "02327" "MYH14_000084" "g.50775925G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50272668G>A" "" "VUS" "" "0000341968" "0" "30" "19" "50789784" "50789784" "subst" "1.64303E-5" "02327" "MYH14_000088" "g.50789784C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50286527C>T" "" "likely benign" "" "0000341993" "0" "50" "19" "50789892" "50789892" "subst" "1.95628E-5" "02327" "MYH14_000089" "g.50789892C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50286635C>T" "" "VUS" "" "0000342072" "0" "50" "19" "50795566" "50795566" "subst" "4.56629E-5" "02327" "MYH14_000006" "g.50795566C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50292309C>T" "" "VUS" "" "0000343511" "0" "50" "19" "50771455" "50771455" "subst" "0.000109791" "02327" "MYH14_000044" "g.50771455G>A" "" "" "" "MYH14(NM_001145809.2):c.2864G>A (p.R955Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50268198G>A" "" "VUS" "" "0000344622" "0" "50" "19" "50721026" "50721026" "subst" "0.000200214" "02327" "MYH14_000078" "g.50721026A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50217769A>G" "" "VUS" "" "0000345610" "0" "30" "19" "50771562" "50771562" "subst" "0" "02327" "MYH14_000083" "g.50771562G>A" "" "" "" "MYH14(NM_001145809.2):c.2971G>A (p.E991K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50268305G>A" "" "likely benign" "" "0000345697" "0" "30" "19" "50714016" "50714016" "subst" "0.000700831" "02327" "MYH14_000077" "g.50714016G>A" "" "" "" "MYH14(NM_001145809.2):c.394G>A (p.G132S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50210759G>A" "" "likely benign" "" "0000345807" "0" "50" "19" "50721005" "50721005" "subst" "0" "02327" "MYH14_000004" "g.50721005G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50217748G>A" "" "VUS" "" "0000346254" "0" "30" "19" "50762405" "50762405" "subst" "0" "02327" "MYH14_000081" "g.50762405G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50259148G>C" "" "likely benign" "" "0000348573" "0" "10" "19" "50762418" "50762418" "subst" "0.773048" "02327" "MYH14_000037" "g.50762418A>G" "" "" "" "MYH14(NM_001145809.2):c.2250A>G (p.P750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50259161A>G" "" "benign" "" "0000349259" "0" "30" "19" "50779427" "50779427" "subst" "2.6678E-5" "02327" "MYH14_000085" "g.50779427C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50276170C>T" "" "likely benign" "" "0000349260" "0" "50" "19" "50779439" "50779439" "subst" "0" "02327" "MYH14_000086" "g.50779439C>T" "" "" "" "MYH14(NM_001145809.1):c.3659C>T (p.T1220I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50276182C>T" "" "VUS" "" "0000349261" "0" "30" "19" "50780037" "50780037" "subst" "3.66116E-5" "02327" "MYH14_000087" "g.50780037C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50276780C>T" "" "likely benign" "" "0000349587" "0" "50" "19" "50755990" "50755990" "subst" "0" "02327" "MYH14_000080" "g.50755990C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50252733C>T" "" "VUS" "" "0000350757" "0" "30" "19" "50810419" "50810419" "subst" "0" "02327" "MYH14_000090" "g.50810419G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50307162G>T" "" "likely benign" "" "0000351269" "0" "30" "19" "50789930" "50789930" "subst" "5.35802E-5" "02327" "MYH14_000057" "g.50789930C>T" "" "" "" "MYH14(NM_001145809.1):c.4731C>T (p.S1577=), MYH14(NM_001145809.2):c.4731C>T (p.S1577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50286673C>T" "" "likely benign" "" "0000438539" "1" "90" "19" "50735280" "50735280" "subst" "4.07286E-5" "02371" "MYH14_000091" "g.50735280C>T" "" "under publication" "" "" "" "Germline" "?" "" "0" "" "" "g.50232023C>T" "" "pathogenic" "" "0000568095" "0" "30" "19" "50713658" "50713658" "subst" "0.000130326" "02330" "MYH14_000092" "g.50713658G>A" "" "" "" "MYH14(NM_001145809.2):c.36G>A (p.K12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50210401G>A" "" "likely benign" "" "0000568096" "0" "50" "19" "50713791" "50713795" "del" "0" "01943" "MYH14_000093" "g.50713791_50713795del" "" "" "" "MYH14(NM_001145809.1):c.169_173delTGGGT (p.W57Afs*132)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50210534_50210538del" "" "VUS" "" "0000568097" "0" "50" "19" "50713795" "50713796" "ins" "0" "01943" "MYH14_000094" "g.50713795_50713796insAA" "" "" "" "MYH14(NM_001145809.1):c.173_174insAA (p.P59Sfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50210538_50210539insAA" "" "VUS" "" "0000568098" "0" "10" "19" "50713814" "50713814" "subst" "0.00226834" "01943" "MYH14_000011" "g.50713814G>T" "" "" "" "MYH14(NM_001145809.1):c.192G>T (p.G64=), MYH14(NM_001145809.2):c.192G>T (p.G64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50210557G>T" "" "benign" "" "0000568099" "0" "50" "19" "50713885" "50713885" "subst" "0" "02330" "MYH14_000095" "g.50713885G>C" "" "" "" "MYH14(NM_001145809.2):c.263G>C (p.R88P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50210628G>C" "" "VUS" "" "0000568100" "0" "30" "19" "50714016" "50714016" "subst" "0.000700831" "02330" "MYH14_000077" "g.50714016G>A" "" "" "" "MYH14(NM_001145809.2):c.394G>A (p.G132S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50210759G>A" "" "likely benign" "" "0000568101" "0" "30" "19" "50720886" "50720886" "subst" "2.84255E-5" "02330" "MYH14_000096" "g.50720886T>C" "" "" "" "MYH14(NM_001145809.2):c.420T>C (p.L140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50217629T>C" "" "likely benign" "" "0000568102" "0" "30" "19" "50720949" "50720949" "subst" "0.00970614" "01804" "MYH14_000013" "g.50720949G>A" "" "" "" "MYH14(NM_001077186.1):c.483G>A (p.(Met161Ile)), MYH14(NM_001145809.2):c.483G>A (p.M161I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50217692G>A" "" "likely benign" "" "0000568103" "0" "50" "19" "50728917" "50728917" "subst" "0" "01943" "MYH14_000097" "g.50728917G>A" "" "" "" "MYH14(NM_001145809.1):c.793G>A (p.D265N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50225660G>A" "" "VUS" "" "0000568104" "0" "50" "19" "50730169" "50730169" "subst" "0.00043479" "02330" "MYH14_000098" "g.50730169A>G" "" "" "" "MYH14(NM_001145809.1):c.820A>G (p.I274V), MYH14(NM_001145809.2):c.820A>G (p.I274V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50226912A>G" "" "VUS" "" "0000568105" "0" "50" "19" "50730169" "50730169" "subst" "0.00043479" "01943" "MYH14_000098" "g.50730169A>G" "" "" "" "MYH14(NM_001145809.1):c.820A>G (p.I274V), MYH14(NM_001145809.2):c.820A>G (p.I274V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50226912A>G" "" "VUS" "" "0000568106" "0" "30" "19" "50730187" "50730187" "subst" "0.000276299" "01943" "MYH14_000099" "g.50730187G>A" "" "" "" "MYH14(NM_001145809.1):c.838G>A (p.V280I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50226930G>A" "" "likely benign" "" "0000568107" "0" "50" "19" "50730212" "50730212" "subst" "0" "01943" "MYH14_000100" "g.50730212A>G" "" "" "" "MYH14(NM_001145809.1):c.863A>G (p.N288S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50226955A>G" "" "VUS" "" "0000568108" "0" "30" "19" "50730215" "50730215" "subst" "1.62524E-5" "02327" "MYH14_000101" "g.50730215T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50226958T>C" "" "likely benign" "" "0000568109" "0" "30" "19" "50747504" "50747504" "subst" "8.13935E-5" "01943" "MYH14_000102" "g.50747504C>T" "" "" "" "MYH14(NM_001145809.1):c.1120C>T (p.L374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50244247C>T" "" "likely benign" "" "0000568110" "0" "30" "19" "50747534" "50747534" "subst" "0.00297069" "02330" "MYH14_000026" "g.50747534G>T" "" "" "" "MYH14(NM_001145809.1):c.1150G>T (p.G384C), MYH14(NM_001145809.2):c.1150G>T (p.G384C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50244277G>T" "" "likely benign" "" "0000568111" "0" "30" "19" "50747589" "50747589" "subst" "0.00214786" "02330" "MYH14_000103" "g.50747589A>G" "" "" "" "MYH14(NM_001145809.2):c.1205A>G (p.N402S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50244332A>G" "" "likely benign" "" "0000568112" "0" "30" "19" "50752282" "50752282" "subst" "1.63793E-5" "01943" "MYH14_000104" "g.50752282C>T" "" "" "" "MYH14(NM_001145809.1):c.1368C>T (p.Y456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50249025C>T" "" "likely benign" "" "0000568113" "0" "50" "19" "50752287" "50752287" "subst" "0" "02327" "MYH14_000105" "g.50752287G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50249030G>A" "" "VUS" "" "0000568114" "0" "30" "19" "50752296" "50752296" "subst" "2.05349E-5" "02327" "MYH14_000106" "g.50752296G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50249039G>T" "" "likely benign" "" "0000568115" "0" "50" "19" "50753045" "50753045" "subst" "8.12288E-6" "02329" "MYH14_000107" "g.50753045G>A" "" "" "" "MYH14(NM_001145809.1):c.1621G>A (p.D541N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50249788G>A" "" "VUS" "" "0000568116" "0" "30" "19" "50753076" "50753076" "subst" "0" "02327" "MYH14_000108" "g.50753076G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50249819G>A" "" "likely benign" "" "0000568117" "0" "30" "19" "50753936" "50753936" "subst" "4.49446E-5" "02330" "MYH14_000109" "g.50753936C>T" "" "" "" "MYH14(NM_001145809.2):c.1821C>T (p.Y607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50250679C>T" "" "likely benign" "" "0000568118" "0" "30" "19" "50755983" "50755983" "subst" "0.000456885" "01943" "MYH14_000110" "g.50755983C>T" "" "" "" "MYH14(NM_001145809.1):c.1918C>T (p.R640W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50252726C>T" "" "likely benign" "" "0000568119" "0" "10" "19" "50758523" "50758523" "subst" "0.000693033" "02330" "MYH14_000111" "g.50758523G>A" "" "" "" "MYH14(NM_001145809.1):c.1992G>A (p.P664=), MYH14(NM_001145809.2):c.1992G>A (p.P664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50255266G>A" "" "benign" "" "0000568120" "0" "30" "19" "50758523" "50758523" "subst" "0.000693033" "01943" "MYH14_000111" "g.50758523G>A" "" "" "" "MYH14(NM_001145809.1):c.1992G>A (p.P664=), MYH14(NM_001145809.2):c.1992G>A (p.P664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50255266G>A" "" "likely benign" "" "0000568121" "0" "30" "19" "50758531" "50758531" "subst" "0.000329567" "01943" "MYH14_000112" "g.50758531C>A" "" "" "" "MYH14(NM_001145809.1):c.2000C>A (p.P667Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50255274C>A" "" "likely benign" "" "0000568122" "0" "50" "19" "50758557" "50758557" "subst" "0" "02330" "MYH14_000113" "g.50758557G>A" "" "" "" "MYH14(NM_001145809.2):c.2026G>A (p.A676T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50255300G>A" "" "VUS" "" "0000568123" "0" "50" "19" "50762419" "50762419" "subst" "3.15808E-5" "02330" "MYH14_000114" "g.50762419C>T" "" "" "" "MYH14(NM_001145809.2):c.2251C>T (p.R751W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50259162C>T" "" "VUS" "" "0000568124" "0" "10" "19" "50763886" "50763886" "subst" "0.296666" "02330" "MYH14_000115" "g.50763886C>T" "" "" "" "MYH14(NM_001145809.2):c.2355-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50260629C>T" "" "benign" "" "0000568125" "0" "10" "19" "50763886" "50763886" "subst" "0.296666" "02325" "MYH14_000115" "g.50763886C>T" "" "" "" "MYH14(NM_001145809.2):c.2355-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50260629C>T" "" "benign" "" "0000568126" "0" "30" "19" "50766583" "50766583" "subst" "0.0010924" "02330" "MYH14_000116" "g.50766583G>A" "" "" "" "MYH14(NM_001145809.2):c.2600G>A (p.R867H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50263326G>A" "" "likely benign" "" "0000568127" "0" "50" "19" "50766618" "50766618" "subst" "0" "02327" "MYH14_000117" "g.50766618C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50263361C>T" "" "VUS" "" "0000568128" "0" "50" "19" "50766628" "50766628" "subst" "0.000277042" "01943" "MYH14_000040" "g.50766628C>T" "" "" "" "MYH14(NM_001077186.1):c.2546C>T (p.(Ala849Val)), MYH14(NM_001145809.1):c.2645C>T (p.A882V), MYH14(NM_001145809.2):c.2645C>T (p.A882V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50263371C>T" "" "VUS" "" "0000568129" "0" "50" "19" "50766628" "50766628" "subst" "0.000277042" "01804" "MYH14_000040" "g.50766628C>T" "" "" "" "MYH14(NM_001077186.1):c.2546C>T (p.(Ala849Val)), MYH14(NM_001145809.1):c.2645C>T (p.A882V), MYH14(NM_001145809.2):c.2645C>T (p.A882V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50263371C>T" "" "VUS" "" "0000568130" "0" "30" "19" "50766628" "50766628" "subst" "0.000277042" "02327" "MYH14_000040" "g.50766628C>T" "" "" "" "MYH14(NM_001077186.1):c.2546C>T (p.(Ala849Val)), MYH14(NM_001145809.1):c.2645C>T (p.A882V), MYH14(NM_001145809.2):c.2645C>T (p.A882V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50263371C>T" "" "likely benign" "" "0000568131" "0" "30" "19" "50770231" "50770231" "subst" "0.00205497" "02330" "MYH14_000118" "g.50770231G>A" "" "" "" "MYH14(NM_001145809.1):c.2792G>A (p.R931H), MYH14(NM_001145809.2):c.2792G>A (p.R931H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50266974G>A" "" "likely benign" "" "0000568132" "0" "10" "19" "50770231" "50770231" "subst" "0.00205497" "01943" "MYH14_000118" "g.50770231G>A" "" "" "" "MYH14(NM_001145809.1):c.2792G>A (p.R931H), MYH14(NM_001145809.2):c.2792G>A (p.R931H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50266974G>A" "" "benign" "" "0000568133" "0" "50" "19" "50771562" "50771562" "subst" "0" "02330" "MYH14_000083" "g.50771562G>A" "" "" "" "MYH14(NM_001145809.2):c.2971G>A (p.E991K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50268305G>A" "" "VUS" "" "0000568134" "0" "50" "19" "50774730" "50774730" "subst" "0.000170056" "01943" "MYH14_000119" "g.50774730C>T" "" "" "" "MYH14(NM_001145809.1):c.3098C>T (p.T1033M), MYH14(NM_001145809.2):c.3098C>T (p.T1033M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50271473C>T" "" "VUS" "" "0000568135" "0" "50" "19" "50775155" "50775155" "subst" "0" "01943" "MYH14_000120" "g.50775155C>G" "" "" "" "MYH14(NM_001145809.1):c.3221C>G (p.A1074G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50271898C>G" "" "VUS" "" "0000568137" "0" "30" "19" "50779245" "50779245" "dup" "0" "01943" "MYH14_000121" "g.50779245dup" "" "" "" "MYH14(NM_001145809.1):c.3468-3dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50275988dup" "" "likely benign" "" "0000568138" "0" "50" "19" "50779342" "50779342" "subst" "4.21475E-5" "02330" "MYH14_000122" "g.50779342G>C" "" "" "" "MYH14(NM_001145809.2):c.3562G>C (p.E1188Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50276085G>C" "" "VUS" "" "0000568139" "0" "50" "19" "50779439" "50779439" "subst" "0" "01943" "MYH14_000086" "g.50779439C>T" "" "" "" "MYH14(NM_001145809.1):c.3659C>T (p.T1220I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50276182C>T" "" "VUS" "" "0000568140" "0" "10" "19" "50779443" "50779443" "subst" "0.00543418" "02330" "MYH14_000123" "g.50779443C>T" "" "" "" "MYH14(NM_001145809.2):c.3663C>T (p.N1221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50276186C>T" "" "benign" "" "0000568141" "0" "50" "19" "50780052" "50780052" "subst" "0" "01943" "MYH14_000124" "g.50780052C>T" "" "" "" "MYH14(NM_001145809.1):c.3719C>T (p.T1240I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50276795C>T" "" "VUS" "" "0000568142" "0" "50" "19" "50780078" "50780078" "subst" "2.44449E-5" "02327" "MYH14_000125" "g.50780078G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50276821G>A" "" "VUS" "" "0000568143" "0" "10" "19" "50780082" "50780082" "subst" "0.0190193" "02327" "MYH14_000051" "g.50780082C>A" "" "" "" "MYH14(NM_001145809.2):c.3749C>A (p.A1250E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50276825C>A" "" "benign" "" "0000568144" "0" "30" "19" "50781385" "50781385" "subst" "0.000770169" "01943" "MYH14_000126" "g.50781385G>T" "" "" "" "MYH14(NM_001145809.1):c.3871G>T (p.V1291L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50278128G>T" "" "likely benign" "" "0000568145" "0" "30" "19" "50781525" "50781525" "subst" "5.62278E-6" "01943" "MYH14_000127" "g.50781525T>G" "" "" "" "MYH14(NM_001145809.1):c.4011T>G (p.A1337=), MYH14(NM_001145809.2):c.4011T>G (p.A1337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50278268T>G" "" "likely benign" "" "0000568146" "0" "30" "19" "50783475" "50783475" "subst" "0.000339408" "02330" "MYH14_000128" "g.50783475C>T" "" "" "" "MYH14(NM_001145809.2):c.4138-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50280218C>T" "" "likely benign" "" "0000568147" "0" "50" "19" "50784870" "50784870" "subst" "0" "01804" "MYH14_000129" "g.50784870G>A" "" "" "" "MYH14(NM_001077186.1):c.4211G>A (p.(Arg1404His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50281613G>A" "" "VUS" "" "0000568148" "0" "50" "19" "50784914" "50784914" "subst" "1.29182E-5" "02330" "MYH14_000130" "g.50784914C>T" "" "" "" "MYH14(NM_001145809.2):c.4354C>T (p.R1452W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50281657C>T" "" "VUS" "" "0000568149" "0" "50" "19" "50784996" "50784996" "subst" "0" "01943" "MYH14_000131" "g.50784996G>T" "" "" "" "MYH14(NM_001145809.1):c.4436G>T (p.G1479V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50281739G>T" "" "VUS" "" "0000568150" "0" "30" "19" "50785024" "50785024" "subst" "2.0907E-5" "02330" "MYH14_000132" "g.50785024C>T" "" "" "" "MYH14(NM_001145809.2):c.4464C>T (p.D1488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50281767C>T" "" "likely benign" "" "0000568151" "0" "30" "19" "50792777" "50792777" "subst" "8.18056E-6" "01943" "MYH14_000133" "g.50792777C>T" "" "" "" "MYH14(NM_001145809.1):c.4837C>T (p.L1613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50289520C>T" "" "likely benign" "" "0000568152" "0" "50" "19" "50792869" "50792869" "subst" "0" "01943" "MYH14_000134" "g.50792869G>T" "" "" "" "MYH14(NM_001145809.1):c.4929G>T (p.E1643D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50289612G>T" "" "VUS" "" "0000568153" "0" "10" "19" "50794260" "50794260" "subst" "5.39553E-5" "02330" "MYH14_000135" "g.50794260C>T" "" "" "" "MYH14(NM_001145809.2):c.5082C>T (p.A1694=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50291003C>T" "" "benign" "" "0000568154" "0" "30" "19" "50794261" "50794261" "subst" "0.000186448" "01804" "MYH14_000063" "g.50794261G>C" "" "" "" "MYH14(NM_001077186.1):c.4984G>C (p.(Gly1662Arg)), MYH14(NM_001145809.1):c.5083G>C (p.G1695R), MYH14(NM_001145809.2):c.5083G>C (p.G1695R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50291004G>C" "" "likely benign" "" "0000568155" "0" "50" "19" "50795591" "50795591" "subst" "0" "02327" "MYH14_000136" "g.50795591G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50292334G>A" "" "VUS" "" "0000568156" "0" "30" "19" "50796503" "50796503" "subst" "0" "02327" "MYH14_000137" "g.50796503C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50293246C>T" "" "likely benign" "" "0000568157" "0" "10" "19" "50796514" "50796514" "subst" "0.00636489" "02330" "MYH14_000138" "g.50796514C>A" "" "" "" "MYH14(NM_001145809.2):c.5281C>A (p.R1761=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50293257C>A" "" "benign" "" "0000568158" "0" "50" "19" "50796536" "50796536" "subst" "3.80219E-5" "01943" "MYH14_000139" "g.50796536G>A" "" "" "" "MYH14(NM_001145809.1):c.5303G>A (p.R1768Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50293279G>A" "" "VUS" "" "0000568159" "0" "10" "19" "50805138" "50805138" "subst" "0.828952" "02330" "MYH14_000140" "g.50805138C>T" "" "" "" "MYH14(NM_001145809.2):c.5678+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50301881C>T" "" "benign" "" "0000568160" "0" "10" "19" "50805138" "50805138" "subst" "0.828952" "02325" "MYH14_000140" "g.50805138C>T" "" "" "" "MYH14(NM_001145809.2):c.5678+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50301881C>T" "" "benign" "" "0000568161" "0" "50" "19" "50812332" "50812332" "subst" "2.03196E-5" "01943" "MYH14_000141" "g.50812332G>A" "" "" "" "MYH14(NM_001145809.1):c.5858G>A (p.R1953Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50309075G>A" "" "VUS" "" "0000568162" "0" "50" "19" "50812994" "50812994" "subst" "0" "02330" "MYH14_000142" "g.50812994G>A" "" "" "" "MYH14(NM_001145809.2):c.6058G>A (p.G2020R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50309737G>A" "" "VUS" "" "0000568163" "0" "30" "19" "50813024" "50813025" "ins" "0" "01943" "MYH14_000143" "g.50813024_50813025insGCCC" "" "" "" "MYH14(NM_001077186.1):c.5989_5990insGCCC (p.(Ser1997CysfsTer18)), MYH14(NM_001145809.1):c.6088_6089insGCCC (p.S2030Cfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50309767_50309768insGCCC" "" "likely benign" "" "0000568166" "0" "30" "19" "50813029" "50813029" "subst" "0" "01943" "MYH14_000146" "g.50813029A>C" "" "" "" "MYH14(NM_001145809.1):c.6093A>C (p.P2031=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50309772A>C" "" "likely benign" "" "0000568167" "0" "30" "19" "50813032" "50813032" "subst" "0" "01943" "MYH14_000147" "g.50813032A>C" "" "" "" "MYH14(NM_001145809.1):c.6096A>C (p.P2032=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50309775A>C" "" "likely benign" "" "0000568168" "0" "30" "19" "50813032" "50813033" "del" "0" "01943" "MYH14_000148" "g.50813032_50813033del" "" "" "" "MYH14(NM_001077186.1):c.5997_5998del (p.(Ala2000ProfsTer13)), MYH14(NM_001145809.1):c.6096_6097delAG (p.A2033Pfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50309775_50309776del" "" "likely benign" "" "0000568169" "0" "30" "19" "50813032" "50813033" "del" "0" "01804" "MYH14_000148" "g.50813032_50813033del" "" "" "" "MYH14(NM_001077186.1):c.5997_5998del (p.(Ala2000ProfsTer13)), MYH14(NM_001145809.1):c.6096_6097delAG (p.A2033Pfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50309775_50309776del" "" "likely benign" "" "0000568170" "0" "30" "19" "50813033" "50813033" "subst" "0" "01943" "MYH14_000149" "g.50813033G>C" "" "" "" "MYH14(NM_001145809.1):c.6097G>C (p.A2033P, p.(Ala2033Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50309776G>C" "" "likely benign" "" "0000568171" "0" "30" "19" "50813033" "50813033" "subst" "0" "01804" "MYH14_000149" "g.50813033G>C" "" "" "" "MYH14(NM_001145809.1):c.6097G>C (p.A2033P, p.(Ala2033Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50309776G>C" "" "likely benign" "" "0000568172" "0" "30" "19" "50813037" "50813037" "subst" "0" "01943" "MYH14_000150" "g.50813037A>C" "" "" "" "MYH14(NM_001145809.1):c.6101A>C (p.H2034P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50309780A>C" "" "likely benign" "" "0000568174" "0" "30" "19" "50813043" "50813047" "del" "0" "01943" "MYH14_000151" "g.50813043_50813047del" "" "" "" "MYH14(NM_001077186.1):c.6008_6012del (p.(Gln2003delinsProLeuProCysProGlnMetHis)), MYH14(NM_001145809.1):c.6107_6111delAGTGA (p.Q2036Pfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50309786_50309790del" "" "likely benign" "" "0000568175" "0" "30" "19" "50813043" "50813047" "del" "0" "01804" "MYH14_000151" "g.50813043_50813047del" "" "" "" "MYH14(NM_001077186.1):c.6008_6012del (p.(Gln2003delinsProLeuProCysProGlnMetHis)), MYH14(NM_001145809.1):c.6107_6111delAGTGA (p.Q2036Pfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50309786_50309790del" "" "likely benign" "" "0000604243" "0" "70" "19" "50789808" "50789808" "del" "0" "01164" "MYH14_000153" "g.50789808del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50286551del" "" "likely pathogenic" "ACMG" "0000617819" "0" "30" "19" "50720991" "50720991" "subst" "3.65904E-5" "02330" "MYH14_000154" "g.50720991C>T" "" "" "" "MYH14(NM_001145809.2):c.525C>T (p.Y175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50217734C>T" "" "likely benign" "" "0000617820" "0" "30" "19" "50755984" "50755984" "subst" "0.000647632" "01943" "MYH14_000155" "g.50755984G>A" "" "" "" "MYH14(NM_001145809.1):c.1919G>A (p.R640Q), MYH14(NM_001145809.2):c.1919G>A (p.R640Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50252727G>A" "" "likely benign" "" "0000617821" "0" "10" "19" "50758572" "50758572" "subst" "0.00555998" "02330" "MYH14_000156" "g.50758572G>C" "" "" "" "MYH14(NM_001145809.2):c.2041G>C (p.G681R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50255315G>C" "" "benign" "" "0000617822" "0" "30" "19" "50783470" "50783470" "subst" "0.000317996" "02330" "MYH14_000158" "g.50783470C>T" "" "" "" "MYH14(NM_001145809.2):c.4138-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50280213C>T" "" "likely benign" "" "0000617823" "0" "30" "19" "50783540" "50783540" "subst" "1.34136E-5" "02327" "MYH14_000159" "g.50783540G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50280283G>A" "" "likely benign" "" "0000617824" "0" "50" "19" "50789809" "50789809" "subst" "2.90336E-5" "01943" "MYH14_000161" "g.50789809G>A" "" "" "" "MYH14(NM_001145809.1):c.4610G>A (p.R1537Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50286552G>A" "" "VUS" "" "0000617825" "0" "30" "19" "50813024" "50813025" "ins" "0" "01804" "MYH14_000165" "g.50813024_50813025insGC" "" "" "" "MYH14(NM_001077186.1):c.5989_5990insGC (p.(Ser1997CysfsTer40))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50309767_50309768insGC" "" "likely benign" "" "0000617826" "0" "30" "19" "50813024" "50813025" "ins" "0" "01804" "MYH14_000143" "g.50813024_50813025insGCCC" "" "" "" "MYH14(NM_001077186.1):c.5989_5990insGCCC (p.(Ser1997CysfsTer18)), MYH14(NM_001145809.1):c.6088_6089insGCCC (p.S2030Cfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50309767_50309768insGCCC" "" "likely benign" "" "0000624057" "0" "50" "19" "50728876" "50728876" "subst" "2.85836E-5" "01943" "MYH14_000020" "g.50728876C>A" "" "" "" "MYH14(NM_001145809.1):c.752C>A (p.P251H), MYH14(NM_001145809.2):c.752C>A (p.P251H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50225619C>A" "" "VUS" "" "0000624058" "0" "50" "19" "50766634" "50766634" "subst" "4.80148E-5" "02330" "MYH14_000157" "g.50766634A>G" "" "" "" "MYH14(NM_001145809.2):c.2651A>G (p.Y884C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50263377A>G" "" "VUS" "" "0000624059" "0" "50" "19" "50779379" "50779379" "subst" "0" "02330" "MYH14_000049" "g.50779379G>A" "" "" "" "MYH14(NM_001145809.1):c.3599G>A (p.R1200Q), MYH14(NM_001145809.2):c.3599G>A (p.R1200Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50276122G>A" "" "VUS" "" "0000624060" "0" "30" "19" "50783355" "50783355" "subst" "0.00150474" "01943" "MYH14_000053" "g.50783355G>A" "" "" "" "MYH14(NM_001145809.1):c.4094G>A (p.S1365N), MYH14(NM_001145809.2):c.4094G>A (p.S1365N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50280098G>A" "" "likely benign" "" "0000624061" "0" "10" "19" "50789795" "50789795" "subst" "0.00299177" "02330" "MYH14_000160" "g.50789795C>T" "" "" "" "MYH14(NM_001145809.2):c.4596C>T (p.A1532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50286538C>T" "" "benign" "" "0000624062" "0" "50" "19" "50796535" "50796535" "subst" "1.26375E-5" "01943" "MYH14_000162" "g.50796535C>T" "" "" "" "MYH14(NM_001145809.1):c.5302C>T (p.R1768W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50293278C>T" "" "VUS" "" "0000624063" "0" "10" "19" "50796941" "50796941" "subst" "0.00310048" "02330" "MYH14_000163" "g.50796941G>A" "" "" "" "MYH14(NM_001145809.2):c.5466G>A (p.L1822=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50293684G>A" "" "benign" "" "0000624064" "0" "30" "19" "50813024" "50813024" "subst" "5.1218E-6" "01943" "MYH14_000164" "g.50813024T>A" "" "" "" "MYH14(NM_001145809.1):c.6088T>A (p.S2030T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50309767T>A" "" "likely benign" "" "0000642190" "1" "99" "19" "50713642" "50713642" "subst" "0" "00004" "MYH14_000166" "g.50713642C>A" "" "{DB:DVD}, {PMID:Donaudy 2004:15015131}, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50210385C>A" "" "pathogenic" "" "0000642191" "1" "33" "19" "50713655" "50713655" "subst" "0.000112201" "00004" "MYH14_000167" "g.50713655G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50210398G>A" "" "likely benign" "" "0000642192" "1" "99" "19" "50713981" "50713981" "subst" "0" "00004" "MYH14_000168" "g.50713981C>T" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Yang 2005:16222661}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50210724C>T" "" "pathogenic" "" "0000642193" "1" "33" "19" "50721000" "50721000" "subst" "8.1416E-6" "00004" "MYH14_000169" "g.50721000C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50217743C>T" "" "likely benign" "" "0000642194" "1" "99" "19" "50721007" "50721007" "subst" "0" "00004" "MYH14_000170" "g.50721007G>A" "" "{DB:DVD}, {PMID:Qing 2014:25289672}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50217750G>A" "" "pathogenic" "" "0000642195" "1" "33" "19" "50726380" "50726380" "subst" "0" "00004" "MYH14_000171" "g.50726380G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50223123G>A" "" "likely benign" "" "0000642196" "1" "33" "19" "50726618" "50726618" "subst" "0.000211527" "00004" "MYH14_000017" "g.50726618C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50223361C>T" "" "likely benign" "" "0000642197" "1" "33" "19" "50728934" "50728934" "subst" "0.000155134" "00004" "MYH14_000172" "g.50728934C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50225677C>T" "" "likely benign" "" "0000642198" "1" "55" "19" "50733856" "50733856" "subst" "0" "00004" "MYH14_000173" "g.50733856G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50230599G>A" "" "VUS" "" "0000642199" "1" "55" "19" "50735308" "50735308" "subst" "0" "00004" "MYH14_000174" "g.50735308C>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50232051C>A" "" "VUS" "" "0000642200" "1" "33" "19" "50747495" "50747495" "subst" "0.000464169" "00004" "MYH14_000175" "g.50747495C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50244238C>T" "" "likely benign" "" "0000642201" "1" "55" "19" "50750315" "50750315" "subst" "9.78857E-5" "00004" "MYH14_000079" "g.50750315C>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50247058C>G" "" "VUS" "" "0000642202" "1" "33" "19" "50750325" "50750325" "subst" "0.000211989" "00004" "MYH14_000176" "g.50750325C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50247068C>T" "" "likely benign" "" "0000642203" "1" "55" "19" "50750351" "50750351" "subst" "0.000249041" "00004" "MYH14_000177" "g.50750351A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50247094A>G" "" "VUS" "" "0000642204" "1" "99" "19" "50752252" "50752252" "del" "0" "00004" "MYH14_000178" "g.50752252del" "" "{DB:DVD}, {PMID:Yuen 2015:25621899}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50248995del" "" "pathogenic" "" "0000642205" "1" "55" "19" "50752296" "50752296" "subst" "3.28558E-5" "00004" "MYH14_000179" "g.50752296G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50249039G>A" "" "VUS" "" "0000642206" "1" "33" "19" "50752957" "50752957" "subst" "0" "00004" "MYH14_000180" "g.50752957G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50249700G>A" "" "likely benign" "" "0000642207" "1" "33" "19" "50753049" "50753049" "subst" "0" "00004" "MYH14_000181" "g.50753049T>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50249792T>G" "" "likely benign" "" "0000642208" "1" "33" "19" "50753050" "50753050" "subst" "2.84301E-5" "00004" "MYH14_000182" "g.50753050G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50249793G>A" "" "likely benign" "" "0000642209" "1" "55" "19" "50753079" "50753079" "subst" "1.62633E-5" "00004" "MYH14_000183" "g.50753079C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50249822C>T" "" "VUS" "" "0000642210" "1" "55" "19" "50755983" "50755983" "subst" "0.000456885" "00004" "MYH14_000110" "g.50755983C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50252726C>T" "" "VUS" "" "0000642211" "1" "33" "19" "50758523" "50758523" "subst" "0.000693033" "00004" "MYH14_000111" "g.50758523G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50255266G>A" "" "likely benign" "" "0000642212" "1" "99" "19" "50762467" "50762467" "subst" "0" "00004" "MYH14_000184" "g.50762467C>A" "" "{DB:DVD}, {PMID:Kim 2005:15845534}, {PMID:Shearer 1993:20301607}, {PMID:Donaudy 2004:15015131}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50259210C>A" "" "pathogenic" "" "0000642213" "1" "77" "19" "50766675" "50766675" "subst" "2.84687E-5" "00004" "MYH14_000185" "g.50766675A>C" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50263418A>C" "" "likely pathogenic" "" "0000642214" "1" "99" "19" "50770156" "50770156" "subst" "0" "00004" "MYH14_000186" "g.50770156C>T" "" "{DB:DVD}, {PMID:Qing 2014:25289672}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50266899C>T" "" "pathogenic" "" "0000642215" "1" "55" "19" "50771431" "50771431" "subst" "0.000129181" "00004" "MYH14_000187" "g.50771431G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50268174G>A" "" "VUS" "" "0000642216" "1" "99" "19" "50771512" "50771512" "subst" "0" "00004" "MYH14_000188" "g.50771512G>T" "" "{DB:DVD}, {PMID:Choi 2011:21480433}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50268255G>T" "" "pathogenic" "" "0000642217" "1" "99" "19" "50774681" "50774681" "subst" "4.33178E-6" "00004" "MYH14_000189" "g.50774681C>T" "" "{DB:DVD}, {PMID:Donaudy 2004:15015131}, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50271424C>T" "" "pathogenic" "" "0000642218" "1" "55" "19" "50775825" "50775825" "subst" "0.000144991" "00004" "MYH14_000190" "g.50775825C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50272568C>T" "" "VUS" "" "0000642219" "1" "55" "19" "50775989" "50775989" "subst" "0" "00004" "MYH14_000191" "g.50775989G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50272732G>A" "" "VUS" "" "0000642220" "1" "55" "19" "50779255" "50779255" "subst" "9.15835E-5" "00004" "MYH14_000192" "g.50779255G>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50275998G>T" "" "VUS" "" "0000642221" "1" "33" "19" "50779365" "50779365" "subst" "0" "00004" "MYH14_000193" "g.50779365G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50276108G>A" "" "likely benign" "" "0000642222" "1" "55" "19" "50779409" "50779409" "subst" "5.99974E-6" "00004" "MYH14_000194" "g.50779409G>A" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50276152G>A" "" "VUS" "" "0000642223" "1" "33" "19" "50780110" "50780110" "subst" "4.92166E-5" "00004" "MYH14_000195" "g.50780110C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50276853C>T" "" "likely benign" "" "0000642224" "1" "33" "19" "50780111" "50780111" "subst" "7.79257E-5" "00004" "MYH14_000196" "g.50780111G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50276854G>A" "" "likely benign" "" "0000642225" "1" "33" "19" "50783317" "50783317" "subst" "3.75088E-5" "00004" "MYH14_000197" "g.50783317G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50280060G>A" "" "likely benign" "" "0000642226" "1" "55" "19" "50783349" "50783349" "subst" "4.99388E-5" "00004" "MYH14_000198" "g.50783349G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50280092G>A" "" "VUS" "" "0000642227" "1" "33" "19" "50783502" "50783502" "subst" "1.98839E-5" "00004" "MYH14_000199" "g.50783502G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50280245G>A" "" "likely benign" "" "0000642228" "1" "55" "19" "50783609" "50783609" "subst" "6.14519E-5" "00004" "MYH14_000200" "g.50783609C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50280352C>T" "" "VUS" "" "0000642229" "1" "55" "19" "50783614" "50783614" "subst" "2.05375E-5" "00004" "MYH14_000201" "g.50783614C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50280357C>T" "" "VUS" "" "0000642230" "1" "55" "19" "50784930" "50784930" "subst" "2.13132E-5" "00004" "MYH14_000202" "g.50784930G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50281673G>A" "" "VUS" "" "0000642231" "1" "55" "19" "50784953" "50784953" "subst" "6.30692E-5" "00004" "MYH14_000203" "g.50784953C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50281696C>T" "" "VUS" "" "0000642232" "1" "55" "19" "50784999" "50784999" "subst" "1.27828E-5" "00004" "MYH14_000204" "g.50784999G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50281742G>A" "" "VUS" "" "0000642233" "1" "55" "19" "50785001" "50785001" "subst" "2.96452E-5" "00004" "MYH14_000205" "g.50785001C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50281744C>T" "" "VUS" "" "0000642234" "1" "55" "19" "50785046" "50785046" "subst" "2.9218E-5" "00004" "MYH14_000206" "g.50785046C>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50281789C>G" "" "VUS" "" "0000642235" "1" "33" "19" "50785109" "50785109" "subst" "6.74008E-5" "00004" "MYH14_000207" "g.50785109C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50281852C>T" "" "likely benign" "" "0000642236" "1" "55" "19" "50789904" "50789904" "subst" "9.01172E-5" "00004" "MYH14_000208" "g.50789904G>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50286647G>T" "" "VUS" "" "0000642237" "1" "99" "19" "50792843" "50792843" "subst" "0.000102457" "00004" "MYH14_000209" "g.50792843G>A" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50289586G>A" "" "pathogenic" "" "0000642238" "1" "33" "19" "50792883" "50792883" "subst" "0.000262954" "00004" "MYH14_000210" "g.50792883G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50289626G>A" "" "likely benign" "" "0000642239" "1" "99" "19" "50794186" "50794186" "subst" "0" "00004" "MYH14_000211" "g.50794186C>T" "" "{DB:DVD}, {PMID:Vona 2014:24875298}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50290929C>T" "" "pathogenic" "" "0000642240" "1" "33" "19" "50794254" "50794254" "subst" "8.32106E-6" "00004" "MYH14_000212" "g.50794254C>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50290997C>A" "" "likely benign" "" "0000642241" "1" "33" "19" "50794261" "50794261" "subst" "0.000186448" "00004" "MYH14_000063" "g.50794261G>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50291004G>C" "" "likely benign" "" "0000642242" "1" "33" "19" "50795506" "50795506" "subst" "2.6197E-5" "00004" "MYH14_000213" "g.50795506C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50292249C>T" "" "likely benign" "" "0000642243" "1" "11" "19" "50795617" "50795617" "subst" "0.00173144" "00004" "MYH14_000067" "g.50795617C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50292360C>T" "" "benign" "" "0000642244" "1" "55" "19" "50796504" "50796504" "subst" "0" "00004" "MYH14_000214" "g.50796504G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50293247G>A" "" "VUS" "" "0000642245" "1" "55" "19" "50796921" "50796921" "subst" "1.30082E-5" "00004" "MYH14_000215" "g.50796921C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50293664C>T" "" "VUS" "" "0000642246" "1" "55" "19" "50812350" "50812350" "subst" "8.93764E-5" "00004" "MYH14_000216" "g.50812350G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50309093G>A" "" "VUS" "" "0000642247" "1" "55" "19" "50812433" "50812433" "subst" "0" "00004" "MYH14_000217" "g.50812433C>T" "" "{DB:DVD}, {PMID:Zhang 1998:9710612}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50309176C>T" "" "VUS" "" "0000642248" "1" "99" "19" "50812952" "50812952" "subst" "0" "00004" "MYH14_000218" "g.50812952G>T" "" "{DB:DVD}, {PMID:Shearer 2010:21078986}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50309695G>T" "" "pathogenic" "" "0000642249" "1" "55" "19" "50813024" "50813024" "subst" "5.1218E-6" "00004" "MYH14_000164" "g.50813024T>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.50309767T>A" "" "VUS" "" "0000644805" "0" "50" "19" "50775825" "50775825" "subst" "0.000144991" "03564" "MYH14_000219" "g.50775825C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50272568C>T" "" "VUS" "" "0000650040" "1" "30" "19" "50720949" "50720949" "subst" "0.00970614" "03575" "MYH14_000013" "g.50720949G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs34773557}" "Germline" "" "rs34773557" "0" "" "" "g.50217692G>A" "" "likely benign" "" "0000650041" "1" "50" "19" "50726342" "50726342" "subst" "0.000625426" "03575" "MYH14_000220" "g.50726342C>T" "26/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "26 heterozygous, no homozygous; {DB:CLININrs200818171}" "Germline" "" "rs200818171" "0" "" "" "g.50223085C>T" "" "VUS" "" "0000650042" "1" "30" "19" "50747534" "50747534" "subst" "0.00297069" "03575" "MYH14_000026" "g.50747534G>T" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs119103280}" "Germline" "" "rs119103280" "0" "" "" "g.50244277G>T" "" "likely benign" "" "0000650043" "1" "30" "19" "50780082" "50780082" "subst" "0.0190193" "03575" "MYH14_000051" "g.50780082C>A" "20/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "20 heterozygous, no homozygous; {DB:CLININrs11669191}" "Germline" "" "rs11669191" "0" "" "" "g.50276825C>A" "" "likely benign" "" "0000658641" "0" "50" "19" "50713686" "50713686" "subst" "6.58146E-6" "02327" "MYH14_000221" "g.50713686G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50210429G>A" "" "VUS" "" "0000658642" "0" "30" "19" "50762388" "50762388" "subst" "0.000344529" "02330" "MYH14_000222" "g.50762388C>A" "" "" "" "MYH14(NM_001145809.2):c.2233-13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50259131C>A" "" "likely benign" "" "0000658643" "0" "50" "19" "50792847" "50792847" "subst" "3.28076E-5" "02330" "MYH14_000223" "g.50792847G>A" "" "" "" "MYH14(NM_001145809.2):c.4907G>A (p.R1636H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50289590G>A" "" "VUS" "" "0000681487" "0" "30" "19" "50720992" "50720992" "subst" "0.000178911" "01943" "MYH14_000224" "g.50720992G>A" "" "" "" "MYH14(NM_001145809.1):c.526G>A (p.A176T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681488" "0" "50" "19" "50752253" "50752253" "subst" "8.19403E-6" "02330" "MYH14_000225" "g.50752253G>A" "" "" "" "MYH14(NM_001145809.2):c.1339G>A (p.A447T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681490" "0" "50" "19" "50771431" "50771431" "subst" "0.000129181" "02330" "MYH14_000187" "g.50771431G>A" "" "" "" "MYH14(NM_001145809.2):c.2840G>A (p.R947H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000686186" "1" "50" "19" "50813001" "50813001" "subst" "0" "00006" "MYH14_000227" "g.50813001G>C" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000692870" "0" "30" "19" "50747509" "50747509" "subst" "4.06891E-6" "01943" "MYH14_000228" "g.50747509G>T" "" "" "" "MYH14(NM_001145809.1):c.1125G>T (p.R375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692871" "0" "50" "19" "50774730" "50774730" "subst" "0.000170056" "02327" "MYH14_000119" "g.50774730C>T" "" "" "" "MYH14(NM_001145809.1):c.3098C>T (p.T1033M), MYH14(NM_001145809.2):c.3098C>T (p.T1033M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692872" "0" "50" "19" "50781497" "50781497" "subst" "0" "01943" "MYH14_000229" "g.50781497A>T" "" "" "" "MYH14(NM_001145809.1):c.3983A>T (p.D1328V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000695604" "0" "50" "19" "50792876" "50792876" "subst" "0" "03779" "MYH14_000230" "g.50792876G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1254578721" "0" "" "" "" "" "VUS" "" "0000697632" "0" "70" "19" "50726353" "50726353" "subst" "0" "00006" "MYH14_000231" "g.50726353G>C" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.50223096G>C" "" "likely pathogenic" "" "0000703972" "0" "50" "19" "50713717" "50713717" "subst" "0" "03779" "MYH14_000232" "g.50713717G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs942607311" "0" "" "" "" "" "VUS" "" "0000711034" "0" "50" "19" "50752332" "50752332" "subst" "0" "03779" "MYH14_000233" "g.50752332G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs199812021" "0" "" "" "" "" "VUS" "" "0000714112" "0" "70" "19" "50762494" "50762494" "subst" "0" "03779" "MYH14_000236" "g.50762494C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs780868698" "0" "" "" "" "" "likely pathogenic" "" "0000727489" "0" "30" "19" "50752333" "50752333" "subst" "7.45124E-5" "02330" "MYH14_000029" "g.50752333C>T" "" "" "" "MYH14(NM_001145809.1):c.1419C>T (p.R473=), MYH14(NM_001145809.2):c.1419C>T (p.R473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727490" "0" "30" "19" "50766626" "50766626" "subst" "0" "02330" "MYH14_000237" "g.50766626C>T" "" "" "" "MYH14(NM_001145809.2):c.2643C>T (p.C881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727491" "0" "50" "19" "50771619" "50771619" "subst" "0" "01943" "MYH14_000238" "g.50771619A>G" "" "" "" "MYH14(NM_001145809.1):c.3028A>G (p.I1010V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727492" "0" "30" "19" "50775804" "50775804" "subst" "0" "02330" "MYH14_000239" "g.50775804C>T" "" "" "" "MYH14(NM_001145809.2):c.3296-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727493" "0" "50" "19" "50784953" "50784953" "subst" "6.30692E-5" "02330" "MYH14_000203" "g.50784953C>T" "" "" "" "MYH14(NM_001145809.2):c.4393C>T (p.R1465C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727494" "0" "10" "19" "50789940" "50789940" "subst" "0.00258667" "02330" "MYH14_000240" "g.50789940G>A" "" "" "" "MYH14(NM_001145809.2):c.4741G>A (p.V1581I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000727495" "0" "30" "19" "50804920" "50804920" "subst" "0" "01943" "MYH14_000241" "g.50804920A>G" "" "" "" "MYH14(NM_001145809.1):c.5472A>G (p.V1824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727496" "0" "30" "19" "50812927" "50812927" "subst" "0.000272263" "02330" "MYH14_000242" "g.50812927G>A" "" "" "" "MYH14(NM_001145809.2):c.5991G>A (p.T1997=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000760746" "0" "50" "19" "50730187" "50730187" "subst" "0.000276299" "03779" "MYH14_000099" "g.50730187G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs202246093" "0" "" "" "" "" "VUS" "" "0000764170" "0" "50" "19" "50789931" "50789931" "subst" "0" "02404" "MYH14_000243" "g.50789931A>G" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Unknown" "yes" "" "" "" "" "" "" "VUS" "ACMG" "0000794786" "0" "70" "19" "50762467" "50762467" "subst" "0" "03779" "MYH14_000244" "g.50762467C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000808990" "0" "30" "19" "50726342" "50726342" "subst" "0.000625426" "01943" "MYH14_000220" "g.50726342C>T" "" "" "" "MYH14(NM_001145809.1):c.565C>T (p.R189C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808991" "0" "50" "19" "50756015" "50756015" "subst" "0" "02327" "MYH14_000246" "g.50756015G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808992" "0" "50" "19" "50774730" "50774730" "subst" "0.000170056" "02330" "MYH14_000119" "g.50774730C>T" "" "" "" "MYH14(NM_001145809.1):c.3098C>T (p.T1033M), MYH14(NM_001145809.2):c.3098C>T (p.T1033M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808993" "0" "50" "19" "50775934" "50775934" "subst" "1.29636E-5" "01943" "MYH14_000247" "g.50775934A>G" "" "" "" "MYH14(NM_001145809.1):c.3413A>G (p.E1138G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808994" "0" "30" "19" "50781381" "50781381" "subst" "1.65347E-5" "01943" "MYH14_000248" "g.50781381C>T" "" "" "" "MYH14(NM_001145809.1):c.3867C>T (p.A1289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808995" "0" "50" "19" "50784921" "50784921" "subst" "0" "01943" "MYH14_000249" "g.50784921G>A" "" "" "" "MYH14(NM_001145809.1):c.4361G>A (p.R1454Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808996" "0" "50" "19" "50795642" "50795642" "subst" "0" "01943" "MYH14_000250" "g.50795642A>G" "" "" "" "MYH14(NM_001145809.1):c.5252A>G (p.Q1751R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808997" "0" "50" "19" "50804996" "50804996" "subst" "1.62628E-5" "01943" "MYH14_000251" "g.50804996C>T" "" "" "" "MYH14(NM_001145809.1):c.5548C>T (p.R1850W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808998" "0" "50" "19" "50805014" "50805014" "subst" "8.54603E-5" "01943" "MYH14_000252" "g.50805014C>T" "" "" "" "MYH14(NM_001145809.1):c.5566C>T (p.R1856W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808999" "0" "30" "19" "50813023" "50813023" "subst" "0" "02330" "MYH14_000253" "g.50813023G>T" "" "" "" "MYH14(NM_001145809.2):c.6087G>T (p.G2029=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000839365" "0" "50" "19" "50753937" "50753937" "subst" "1.63487E-5" "03779" "MYH14_000254" "g.50753937G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs576014205" "0" "" "" "" "" "VUS" "" "0000847479" "0" "70" "19" "50735304" "50735304" "subst" "0" "00000" "MYH14_000255" "g.50735304C>T" "" "" "" "c.1067C>T" "" "Germline" "" "rs151082668" "0" "" "" "" "" "likely pathogenic" "" "0000855670" "0" "30" "19" "50727416" "50727416" "subst" "4.06085E-6" "02330" "MYH14_000256" "g.50727416C>A" "" "" "" "MYH14(NM_001145809.2):c.699C>A (p.S233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855671" "0" "50" "19" "50728851" "50728851" "subst" "7.09107E-5" "02327" "MYH14_000257" "g.50728851G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855673" "0" "50" "19" "50792861" "50792861" "subst" "1.64405E-5" "01943" "MYH14_000261" "g.50792861C>T" "" "" "" "MYH14(NM_001145809.1):c.4921C>T (p.R1641C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855674" "0" "50" "19" "50794207" "50794207" "subst" "1.3715E-5" "01943" "MYH14_000262" "g.50794207C>T" "" "" "" "MYH14(NM_001145809.1):c.5029C>T (p.R1677C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866236" "0" "10" "19" "50713655" "50713655" "subst" "0.0244064" "01943" "MYH14_000009" "g.50713655G>C" "" "" "" "MYH14(NM_001145809.1):c.33G>C (p.R11=), MYH14(NM_001145809.2):c.33G>C (p.R11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866237" "0" "50" "19" "50750294" "50750294" "subst" "0.000118732" "02327" "MYH14_000258" "g.50750294G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866238" "0" "70" "19" "50750356" "50750356" "subst" "0" "01943" "MYH14_000259" "g.50750356C>T" "" "" "" "MYH14(NM_001145809.1):c.1306C>T (p.Q436*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000866239" "0" "50" "19" "50766628" "50766628" "subst" "0.000277042" "02329" "MYH14_000040" "g.50766628C>T" "" "" "" "MYH14(NM_001077186.1):c.2546C>T (p.(Ala849Val)), MYH14(NM_001145809.1):c.2645C>T (p.A882V), MYH14(NM_001145809.2):c.2645C>T (p.A882V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866240" "0" "50" "19" "50779342" "50779342" "subst" "4.21475E-5" "02327" "MYH14_000122" "g.50779342G>C" "" "" "" "MYH14(NM_001145809.2):c.3562G>C (p.E1188Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866241" "0" "50" "19" "50781364" "50781364" "subst" "0.000298744" "02330" "MYH14_000260" "g.50781364C>T" "" "" "" "MYH14(NM_001145809.2):c.3850C>T (p.R1284W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866242" "0" "30" "19" "50794261" "50794261" "subst" "0.000186448" "01943" "MYH14_000063" "g.50794261G>C" "" "" "" "MYH14(NM_001077186.1):c.4984G>C (p.(Gly1662Arg)), MYH14(NM_001145809.1):c.5083G>C (p.G1695R), MYH14(NM_001145809.2):c.5083G>C (p.G1695R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866243" "0" "30" "19" "50805048" "50805048" "subst" "2.06501E-5" "02327" "MYH14_000263" "g.50805048G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000873464" "0" "70" "19" "50774672" "50774672" "subst" "0" "00000" "MYH14_000264" "g.50774672G>C" "117" "{PMID:Sun 2018:30076350}" "" "PMP22(NM_153322.1):c.319+1G>T; MYH14(NM_001145809.1):c.3040G>C(p.E1014Q)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.50271415G>C" "" "likely pathogenic" "" "0000895091" "0" "30" "19" "50735197" "50735197" "subst" "0" "02330" "MYH14_000265" "g.50735197C>T" "" "" "" "MYH14(NM_001145809.2):c.984C>T (p.L328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895092" "0" "30" "19" "50755984" "50755984" "subst" "0.000647632" "02330" "MYH14_000155" "g.50755984G>A" "" "" "" "MYH14(NM_001145809.1):c.1919G>A (p.R640Q), MYH14(NM_001145809.2):c.1919G>A (p.R640Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895093" "0" "50" "19" "50762417" "50762417" "subst" "0" "02330" "MYH14_000266" "g.50762417C>T" "" "" "" "MYH14(NM_001145809.2):c.2249C>T (p.P750L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895094" "0" "50" "19" "50779413" "50779413" "subst" "1.82802E-5" "02327" "MYH14_000267" "g.50779413C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895095" "0" "30" "19" "50779460" "50779460" "subst" "0" "02327" "MYH14_000268" "g.50779460G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895097" "0" "50" "19" "50805015" "50805015" "subst" "2.84877E-5" "02327" "MYH14_000269" "g.50805015G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895098" "0" "30" "19" "50812324" "50812324" "subst" "5.28395E-5" "02330" "MYH14_000270" "g.50812324G>A" "" "" "" "MYH14(NM_001145809.2):c.5850G>A (p.E1950=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895099" "0" "50" "19" "50813025" "50813025" "subst" "0" "02327" "MYH14_000271" "g.50813025C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000909813" "0" "90" "19" "50753890" "50753890" "subst" "4.06524E-6" "04147" "MYH14_000272" "g.50753890G>A" "" "{PMID:Wonkam 2022:35440622}" "" "" "Both parents not tested" "Germline/De novo (untested)" "yes" "rs1445498283" "" "" "" "g.50250633G>A" "" "pathogenic (dominant)" "ACMG" "0000915281" "0" "30" "19" "50762543" "50762543" "dup" "0" "02330" "MYH14_000273" "g.50762543dup" "" "" "" "MYH14(NM_001145809.2):c.2354+21dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926930" "0" "50" "19" "50713993" "50713993" "subst" "0" "02327" "MYH14_000274" "g.50713993A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926931" "0" "30" "19" "50747558" "50747558" "subst" "5.70995E-5" "02327" "MYH14_000275" "g.50747558C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926932" "0" "50" "19" "50775826" "50775826" "subst" "0" "02330" "MYH14_000276" "g.50775826G>A" "" "" "" "MYH14(NM_001145809.2):c.3305G>A (p.R1102Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931089" "0" "30" "19" "50747495" "50747495" "subst" "0.000464169" "02330" "MYH14_000175" "g.50747495C>T" "" "" "" "MYH14(NM_024729.4):c.1091-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931090" "0" "50" "19" "50752380" "50752380" "subst" "0" "02325" "MYH14_000277" "g.50752380G>A" "" "" "" "MYH14(NM_024729.4):c.1442G>A (p.G481D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931091" "0" "50" "19" "50779258" "50779258" "subst" "0" "02330" "MYH14_000278" "g.50779258G>A" "" "" "" "MYH14(NM_024729.4):c.3355G>A (p.E1119K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931092" "0" "30" "19" "50795558" "50795558" "subst" "0.000127079" "02327" "MYH14_000279" "g.50795558G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931093" "0" "50" "19" "50812931" "50812931" "subst" "0" "02330" "MYH14_000280" "g.50812931C>T" "" "" "" "MYH14(NM_001145809.2):c.5995C>T (p.R1999C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000944336" "0" "70" "19" "50781382" "50781382" "subst" "0" "00006" "MYH14_000281" "g.50781382G>A" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50278125G>A" "" "likely pathogenic (dominant)" "" "0000944366" "0" "70" "19" "50810349" "50810349" "subst" "0" "00006" "MYH14_000282" "g.50810349C>T" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50307092C>T" "" "likely pathogenic (dominant)" "" "0000951335" "0" "50" "19" "50771472" "50771472" "subst" "0" "02327" "MYH14_000283" "g.50771472T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951336" "0" "50" "19" "50779375" "50779375" "subst" "0" "02330" "MYH14_000284" "g.50779375C>T" "" "" "" "MYH14(NM_001145809.2):c.3595C>T (p.R1199C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951337" "0" "50" "19" "50781452" "50781452" "subst" "2.9412E-5" "02330" "MYH14_000285" "g.50781452G>A" "" "" "" "MYH14(NM_001145809.2):c.3938G>A (p.R1313H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951338" "0" "30" "19" "50781525" "50781525" "subst" "5.62278E-6" "02330" "MYH14_000127" "g.50781525T>G" "" "" "" "MYH14(NM_001145809.1):c.4011T>G (p.A1337=), MYH14(NM_001145809.2):c.4011T>G (p.A1337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960143" "0" "50" "19" "50792796" "50792796" "subst" "0" "00006" "MYH14_000235" "g.50792796C>G" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, BP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.50289539C>G" "" "VUS" "ACMG" "0000969859" "0" "50" "19" "50755981" "50755981" "subst" "0" "02330" "MYH14_000286" "g.50755981A>T" "" "" "" "MYH14(NM_001145809.2):c.1916A>T (p.D639V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969860" "0" "30" "19" "50781537" "50781537" "subst" "0" "02330" "MYH14_000287" "g.50781537G>A" "" "" "" "MYH14(NM_001145809.2):c.4023G>A (p.Q1341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969861" "0" "30" "19" "50792876" "50792876" "subst" "0" "02327" "MYH14_000230" "g.50792876G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969862" "0" "10" "19" "50804977" "50804977" "subst" "0.00619794" "02330" "MYH14_000288" "g.50804977C>T" "" "" "" "MYH14(NM_001145809.2):c.5529C>T (p.S1843=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983609" "0" "50" "19" "50770140" "50770140" "subst" "0" "01804" "MYH14_000289" "g.50770140C>A" "" "" "" "MYH14(NM_001145809.2):c.2701C>A (p.(Pro901Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005026" "0" "30" "19" "50730167" "50730167" "subst" "0" "01804" "MYH14_000290" "g.50730167T>C" "" "" "" "MYH14(NM_001145809.1):c.818T>C (p.(Phe273Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005027" "0" "30" "19" "50733885" "50733885" "subst" "0" "02327" "MYH14_000291" "g.50733885G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005028" "0" "50" "19" "50735216" "50735216" "subst" "4.0653E-6" "01804" "MYH14_000292" "g.50735216T>C" "" "" "" "MYH14(NM_001145809.1):c.1003T>C (p.(Tyr335His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005029" "0" "50" "19" "50735280" "50735280" "subst" "4.07286E-5" "01804" "MYH14_000091" "g.50735280C>T" "" "" "" "MYH14(NM_001145809.1):c.1067C>T (p.(Thr356Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005030" "0" "10" "19" "50753840" "50753840" "subst" "8.53693E-5" "02330" "MYH14_000293" "g.50753840G>A" "" "" "" "MYH14(NM_001145809.2):c.1725G>A (p.S575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001005031" "0" "50" "19" "50762494" "50762494" "subst" "0" "02327" "MYH14_000236" "g.50762494C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015823" "0" "50" "19" "50810385" "50810385" "subst" "0" "02327" "MYH14_000294" "g.50810385C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001019334" "0" "10" "19" "50780082" "50780082" "subst" "0.0190193" "03779" "MYH14_000051" "g.50780082C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs11669191" "0" "" "" "" "" "benign" "" "0001023917" "0" "50" "19" "50775819" "50775819" "subst" "0" "03779" "MYH14_000296" "g.50775819C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1158319494" "0" "" "" "" "" "VUS" "" "0001027244" "0" "70" "19" "50713981" "50713981" "subst" "0" "02327" "MYH14_000168" "g.50713981C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001027245" "0" "50" "19" "50766664" "50766664" "subst" "0" "02327" "MYH14_000295" "g.50766664G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043121" "0" "30" "19" "50713351" "50713351" "subst" "0" "01804" "MYH14_000297" "g.50713351C>A" "" "" "" "MYH14(NM_001145809.2):c.-3-269C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043122" "0" "30" "19" "50789930" "50789930" "subst" "5.35802E-5" "02330" "MYH14_000057" "g.50789930C>T" "" "" "" "MYH14(NM_001145809.1):c.4731C>T (p.S1577=), MYH14(NM_001145809.2):c.4731C>T (p.S1577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043123" "0" "50" "19" "50812350" "50812350" "subst" "8.93764E-5" "01804" "MYH14_000216" "g.50812350G>A" "" "" "" "MYH14(NM_001145809.2):c.5876G>A (p.(Arg1959Gln))" "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 MYH14 ## Count = 639 "{{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}}" "0000013841" "00001339" "50" "1921" "992" "1921" "992" "c.1921+992C>T" "r.(=)" "p.(=)" "" "0000013841" "00025323" "00" "1945" "992" "1945" "992" "c.1945+992C>T" "" "p.(=)" "" "0000089924" "00001339" "50" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Gly180Glu)" "" "0000089925" "00001339" "50" "1289" "0" "1289" "0" "c.1289C>G" "r.(?)" "p.(Ala430Gly)" "" "0000089926" "00001339" "50" "2812" "0" "2812" "0" "c.2812G>T" "r.(?)" "p.(Glu938*)" "" "0000089927" "00001339" "50" "3877" "0" "3877" "0" "c.3877G>C" "r.(?)" "p.(Ala1293Pro)" "" "0000128970" "00001339" "70" "5053" "0" "5053" "0" "c.5053C>T" "r.(?)" "p.(Arg1685Trp)" "" "0000132195" "00001339" "70" "572" "0" "572" "0" "c.572A>G" "r.(?)" "p.(Asp191Gly)" "4" "0000132195" "00025323" "70" "572" "0" "572" "0" "c.572A>G" "r.(?)" "p.(Asp191Gly)" "4" "0000132196" "00001339" "90" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Gln25*)" "2" "0000132196" "00025323" "90" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Gln25*)" "2" "0000247563" "00001339" "10" "2127" "0" "2127" "0" "c.2127A>G" "r.(?)" "p.(Pro709=)" "" "0000247563" "00025323" "10" "2250" "0" "2250" "0" "c.2250A>G" "r.(?)" "p.(Pro750=)" "" "0000247584" "00001339" "10" "5889" "0" "5889" "0" "c.5889A>T" "r.(?)" "p.(Leu1963=)" "" "0000247584" "00025323" "10" "6012" "0" "6012" "0" "c.6012A>T" "r.(?)" "p.(Leu2004=)" "" "0000247608" "00001339" "10" "2704" "-9" "2704" "-9" "c.2704-9A>C" "r.(=)" "p.(=)" "" "0000247608" "00025323" "10" "2827" "-9" "2827" "-9" "c.2827-9A>C" "r.(=)" "p.(=)" "" "0000247613" "00001339" "30" "2640" "0" "2640" "0" "c.2640A>G" "r.(?)" "p.(Lys880=)" "" "0000247613" "00025323" "30" "2763" "0" "2763" "0" "c.2763A>G" "r.(?)" "p.(Lys921=)" "" "0000247647" "00001339" "50" "2023" "0" "2023" "0" "c.2023A>C" "r.(?)" "p.(Lys675Gln)" "" "0000247647" "00025323" "50" "2146" "0" "2146" "0" "c.2146A>C" "r.(?)" "p.(Lys716Gln)" "" "0000248389" "00001339" "10" "2127" "0" "2127" "0" "c.2127A>G" "r.(?)" "p.(Pro709=)" "" "0000248389" "00025323" "10" "2250" "0" "2250" "0" "c.2250A>G" "r.(?)" "p.(Pro750=)" "" "0000254527" "00001339" "30" "802" "0" "802" "0" "c.802A>G" "r.(?)" "p.(Ile268Val)" "" "0000254527" "00025323" "30" "826" "0" "826" "0" "c.826A>G" "r.(?)" "p.(Ile276Val)" "" "0000254770" "00001339" "30" "4676" "0" "4676" "0" "c.4676A>G" "r.(?)" "p.(Asn1559Ser)" "" "0000254770" "00025323" "30" "4799" "0" "4799" "0" "c.4799A>G" "r.(?)" "p.(Asn1600Ser)" "" "0000255067" "00001339" "30" "759" "0" "759" "0" "c.759A>G" "r.(?)" "p.(Thr253=)" "" "0000255067" "00025323" "30" "783" "0" "783" "0" "c.783A>G" "r.(?)" "p.(Thr261=)" "" "0000255911" "00001339" "50" "4976" "0" "4976" "0" "c.4976A>C" "r.(?)" "p.(Glu1659Ala)" "" "0000255911" "00025323" "50" "5099" "0" "5099" "0" "c.5099A>C" "r.(?)" "p.(Glu1700Ala)" "" "0000280380" "00001339" "10" "1090" "13" "1090" "13" "c.1090+13C>T" "r.(=)" "p.(=)" "" "0000280380" "00025323" "10" "1114" "13" "1114" "13" "c.1114+13C>T" "r.(=)" "p.(=)" "" "0000280381" "00001339" "10" "1125" "0" "1125" "0" "c.1125T>C" "r.(?)" "p.(Phe375=)" "" "0000280381" "00025323" "10" "1149" "0" "1149" "0" "c.1149T>C" "r.(?)" "p.(Phe383=)" "" "0000280382" "00001339" "10" "1305" "15" "1305" "15" "c.1305+15C>T" "r.(=)" "p.(=)" "" "0000280382" "00025323" "10" "1329" "15" "1329" "15" "c.1329+15C>T" "r.(=)" "p.(=)" "" "0000280383" "00001339" "10" "1305" "16" "1305" "16" "c.1305+16G>A" "r.(=)" "p.(=)" "" "0000280383" "00025323" "10" "1329" "16" "1329" "16" "c.1329+16G>A" "r.(=)" "p.(=)" "" "0000280384" "00001339" "10" "1459" "-10" "1459" "-10" "c.1459-10G>A" "r.(=)" "p.(=)" "" "0000280384" "00025323" "10" "1483" "-10" "1483" "-10" "c.1483-10G>A" "r.(=)" "p.(=)" "" "0000280385" "00001339" "30" "1683" "0" "1683" "0" "c.1683G>C" "r.(?)" "p.(Pro561=)" "" "0000280385" "00025323" "30" "1707" "0" "1707" "0" "c.1707G>C" "r.(?)" "p.(Pro569=)" "" "0000280386" "00001339" "10" "1731" "0" "1731" "0" "c.1731C>T" "r.(?)" "p.(Gly577=)" "" "0000280386" "00025323" "10" "1755" "0" "1755" "0" "c.1755C>T" "r.(?)" "p.(Gly585=)" "" "0000280387" "00001339" "10" "1866" "0" "1866" "0" "c.1866C>T" "r.(?)" "p.(Val622=)" "" "0000280387" "00025323" "10" "1890" "0" "1890" "0" "c.1890C>T" "r.(?)" "p.(Val630=)" "" "0000280388" "00001339" "10" "192" "0" "192" "0" "c.192G>T" "r.(?)" "p.(Gly64=)" "" "0000280388" "00025323" "10" "192" "0" "192" "0" "c.192G>T" "r.(?)" "p.(Gly64=)" "" "0000280389" "00001339" "10" "2082" "0" "2082" "0" "c.2082C>G" "r.(?)" "p.(Arg694=)" "" "0000280389" "00025323" "10" "2205" "0" "2205" "0" "c.2205C>G" "r.(?)" "p.(Arg735=)" "" "0000280390" "00001339" "10" "2232" "-14" "2232" "-14" "c.2232-14C>T" "r.(=)" "p.(=)" "" "0000280390" "00025323" "10" "2355" "-14" "2355" "-14" "c.2355-14C>T" "r.(=)" "p.(=)" "" "0000280391" "00001339" "30" "2463" "-19" "2463" "-19" "c.2463-19C>G" "r.(=)" "p.(=)" "" "0000280391" "00025323" "30" "2586" "-19" "2586" "-19" "c.2586-19C>G" "r.(=)" "p.(=)" "" "0000280392" "00001339" "30" "2522" "0" "2522" "0" "c.2522C>T" "r.(?)" "p.(Ala841Val)" "" "0000280392" "00025323" "30" "2645" "0" "2645" "0" "c.2645C>T" "r.(?)" "p.(Ala882Val)" "" "0000280393" "00001339" "10" "2718" "0" "2718" "0" "c.2718C>T" "r.(?)" "p.(Arg906=)" "" "0000280393" "00025323" "10" "2841" "0" "2841" "0" "c.2841C>T" "r.(?)" "p.(Arg947=)" "" "0000280394" "00001339" "50" "2741" "0" "2741" "0" "c.2741G>A" "r.(?)" "p.(Arg914Gln)" "" "0000280394" "00025323" "50" "2864" "0" "2864" "0" "c.2864G>A" "r.(?)" "p.(Arg955Gln)" "" "0000280395" "00001339" "10" "2895" "0" "2895" "0" "c.2895G>A" "r.(?)" "p.(Leu965=)" "" "0000280395" "00025323" "10" "3018" "0" "3018" "0" "c.3018G>A" "r.(?)" "p.(Leu1006=)" "" "0000280396" "00001339" "10" "2910" "11" "2910" "11" "c.2910+11T>C" "r.(=)" "p.(=)" "" "0000280396" "00025323" "10" "3033" "11" "3033" "11" "c.3033+11T>C" "r.(=)" "p.(=)" "" "0000280397" "00001339" "10" "33" "0" "33" "0" "c.33G>C" "r.(?)" "p.(Arg11=)" "" "0000280397" "00025323" "10" "33" "0" "33" "0" "c.33G>C" "r.(?)" "p.(Arg11=)" "" "0000280398" "00001339" "10" "3345" "-3" "3345" "-3" "c.3345-3C>T" "r.spl?" "p.?" "" "0000280398" "00025323" "10" "3468" "-3" "3468" "-3" "c.3468-3C>T" "r.spl?" "p.?" "" "0000280399" "00001339" "10" "3557" "9" "3557" "9" "c.3557+9C>T" "r.(=)" "p.(=)" "" "0000280399" "00025323" "10" "3680" "9" "3680" "9" "c.3680+9C>T" "r.(=)" "p.(=)" "" "0000280400" "00001339" "10" "3626" "0" "3626" "0" "c.3626C>A" "r.(?)" "p.(Ala1209Glu)" "" "0000280400" "00025323" "10" "3749" "0" "3749" "0" "c.3749C>A" "r.(?)" "p.(Ala1250Glu)" "" "0000280401" "00001339" "30" "3971" "0" "3971" "0" "c.3971G>A" "r.(?)" "p.(Ser1324Asn)" "" "0000280401" "00025323" "30" "4094" "0" "4094" "0" "c.4094G>A" "r.(?)" "p.(Ser1365Asn)" "" "0000280402" "00001339" "30" "4473" "0" "4473" "0" "c.4473C>A" "r.(?)" "p.(Ala1491=)" "" "0000280402" "00025323" "30" "4596" "0" "4596" "0" "c.4596C>A" "r.(?)" "p.(Ala1532=)" "" "0000280403" "00001339" "10" "474" "0" "474" "0" "c.474T>C" "r.(?)" "p.(Ile158=)" "" "0000280403" "00025323" "10" "474" "0" "474" "0" "c.474T>C" "r.(?)" "p.(Ile158=)" "" "0000280404" "00001339" "10" "4629" "16" "4629" "16" "c.4629+16G>A" "r.(=)" "p.(=)" "" "0000280404" "00025323" "10" "4752" "16" "4752" "16" "c.4752+16G>A" "r.(=)" "p.(=)" "" "0000280405" "00001339" "10" "4630" "-9" "4630" "-9" "c.4630-9C>T" "r.(=)" "p.(=)" "" "0000280405" "00025323" "10" "4753" "-9" "4753" "-9" "c.4753-9C>T" "r.(=)" "p.(=)" "" "0000280406" "00001339" "30" "483" "0" "483" "0" "c.483G>A" "r.(?)" "p.(Met161Ile)" "" "0000280406" "00025323" "30" "483" "0" "483" "0" "c.483G>A" "r.(?)" "p.(Met161Ile)" "" "0000280407" "00001339" "10" "4842" "12" "4842" "12" "c.4842+12C>T" "r.(=)" "p.(=)" "" "0000280407" "00025323" "10" "4965" "12" "4965" "12" "c.4965+12C>T" "r.(=)" "p.(=)" "" "0000280408" "00001339" "50" "4907" "0" "4907" "0" "c.4907G>A" "r.(?)" "p.(Arg1636His)" "" "0000280408" "00025323" "50" "5030" "0" "5030" "0" "c.5030G>A" "r.(?)" "p.(Arg1677His)" "" "0000280409" "00001339" "30" "4960" "0" "4960" "0" "c.4960G>C" "r.(?)" "p.(Gly1654Arg)" "" "0000280409" "00025323" "30" "5083" "0" "5083" "0" "c.5083G>C" "r.(?)" "p.(Gly1695Arg)" "" "0000280410" "00001339" "10" "5104" "0" "5104" "0" "c.5104C>T" "r.(?)" "p.(Leu1702=)" "" "0000280410" "00025323" "10" "5227" "0" "5227" "0" "c.5227C>T" "r.(?)" "p.(Leu1743=)" "" "0000280411" "00001339" "30" "5211" "0" "5211" "0" "c.5211T>C" "r.(?)" "p.(Gly1737=)" "" "0000280411" "00025323" "30" "5334" "0" "5334" "0" "c.5334T>C" "r.(?)" "p.(Gly1778=)" "" "0000280412" "00001339" "50" "5228" "0" "5228" "0" "c.5228C>A" "r.(?)" "p.(Ala1743Asp)" "" "0000280412" "00025323" "50" "5351" "0" "5351" "0" "c.5351C>A" "r.(?)" "p.(Ala1784Asp)" "" "0000280413" "00001339" "50" "5306" "0" "5306" "0" "c.5306C>T" "r.(?)" "p.(Ser1769Leu)" "" "0000280413" "00025323" "50" "5429" "0" "5429" "0" "c.5429C>T" "r.(?)" "p.(Ser1810Leu)" "" "0000280414" "00001339" "10" "5307" "0" "5307" "0" "c.5307G>A" "r.(?)" "p.(Ser1769=)" "" "0000280414" "00025323" "10" "5430" "0" "5430" "0" "c.5430G>A" "r.(?)" "p.(Ser1810=)" "" "0000280415" "00001339" "10" "5346" "16" "5346" "16" "c.5346+16C>T" "r.(=)" "p.(=)" "" "0000280415" "00025323" "10" "5469" "16" "5469" "16" "c.5469+16C>T" "r.(=)" "p.(=)" "" "0000280416" "00001339" "50" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Arg183Gln)" "" "0000280416" "00025323" "50" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Arg183Gln)" "" "0000280417" "00001339" "10" "563" "-21" "563" "-21" "c.563-21C>G" "r.(=)" "p.(=)" "" "0000280417" "00025323" "10" "563" "-21" "563" "-21" "c.563-21C>G" "r.(=)" "p.(=)" "" "0000280418" "00001339" "10" "5745" "0" "5745" "0" "c.5745C>T" "r.(?)" "p.(Ala1915=)" "" "0000280418" "00025323" "10" "5868" "0" "5868" "0" "c.5868C>T" "r.(?)" "p.(Ala1956=)" "" "0000280419" "00001339" "10" "657" "0" "657" "0" "c.657G>A" "r.(?)" "p.(Ala219=)" "" "0000280419" "00025323" "10" "657" "0" "657" "0" "c.657G>A" "r.(?)" "p.(Ala219=)" "" "0000280420" "00001339" "30" "693" "12" "693" "12" "c.693+12C>T" "r.(=)" "p.(=)" "" "0000280420" "00025323" "30" "693" "12" "693" "12" "c.693+12C>T" "r.(=)" "p.(=)" "" "0000280421" "00001339" "10" "693" "785" "693" "785" "c.693+785G>A" "r.(=)" "p.(=)" "" "0000280421" "00025323" "10" "694" "-20" "694" "-20" "c.694-20G>A" "r.(=)" "p.(=)" "" "0000280422" "00001339" "50" "707" "0" "707" "0" "c.707G>A" "r.(?)" "p.(Arg236Gln)" "" "0000280422" "00025323" "50" "731" "0" "731" "0" "c.731G>A" "r.(?)" "p.(Arg244Gln)" "" "0000280423" "00001339" "50" "728" "0" "728" "0" "c.728C>A" "r.(?)" "p.(Pro243His)" "" "0000280423" "00025323" "50" "752" "0" "752" "0" "c.752C>A" "r.(?)" "p.(Pro251His)" "" "0000280424" "00001339" "10" "91" "0" "91" "0" "c.91C>A" "r.(?)" "p.(Pro31Thr)" "" "0000280424" "00025323" "10" "91" "0" "91" "0" "c.91C>A" "r.(?)" "p.(Pro31Thr)" "" "0000282791" "00001339" "10" "1090" "13" "1090" "13" "c.1090+13C>T" "r.(=)" "p.(=)" "" "0000282791" "00025323" "10" "1114" "13" "1114" "13" "c.1114+13C>T" "r.(=)" "p.(=)" "" "0000282792" "00001339" "10" "2082" "0" "2082" "0" "c.2082C>G" "r.(?)" "p.(Arg694=)" "" "0000282792" "00025323" "10" "2205" "0" "2205" "0" "c.2205C>G" "r.(?)" "p.(Arg735=)" "" "0000282793" "00001339" "10" "5307" "0" "5307" "0" "c.5307G>A" "r.(?)" "p.(Ser1769=)" "" "0000282793" "00025323" "10" "5430" "0" "5430" "0" "c.5430G>A" "r.(?)" "p.(Ser1810=)" "" "0000282794" "00001339" "10" "5346" "16" "5346" "16" "c.5346+16C>T" "r.(=)" "p.(=)" "" "0000282794" "00025323" "10" "5469" "16" "5469" "16" "c.5469+16C>T" "r.(=)" "p.(=)" "" "0000282795" "00001339" "10" "657" "0" "657" "0" "c.657G>A" "r.(?)" "p.(Ala219=)" "" "0000282795" "00025323" "10" "657" "0" "657" "0" "c.657G>A" "r.(?)" "p.(Ala219=)" "" "0000285491" "00001339" "10" "10961" "0" "10961" "0" "c.*4973T>A" "r.(=)" "p.(=)" "" "0000285491" "00025323" "10" "11084" "0" "11084" "0" "c.*4973T>A" "r.(=)" "p.(=)" "" "0000292458" "00001339" "30" "1126" "0" "1126" "0" "c.1126G>T" "r.(?)" "p.(Gly376Cys)" "" "0000292458" "00025323" "30" "1150" "0" "1150" "0" "c.1150G>T" "r.(?)" "p.(Gly384Cys)" "" "0000292459" "00001339" "30" "1395" "0" "1395" "0" "c.1395C>T" "r.(?)" "p.(Arg465=)" "" "0000292459" "00025323" "30" "1419" "0" "1419" "0" "c.1419C>T" "r.(?)" "p.(Arg473=)" "" "0000292460" "00001339" "50" "1922" "-2031" "1922" "-2031" "c.1922-2031C>T" "r.(=)" "p.(=)" "" "0000292460" "00025323" "50" "1994" "0" "1994" "0" "c.1994C>T" "r.(?)" "p.(Ser665Leu)" "" "0000292462" "00001339" "50" "3476" "0" "3476" "0" "c.3476G>A" "r.(?)" "p.(Arg1159Gln)" "" "0000292462" "00025323" "50" "3599" "0" "3599" "0" "c.3599G>A" "r.(?)" "p.(Arg1200Gln)" "" "0000292463" "00001339" "50" "3649" "0" "3649" "0" "c.3649C>T" "r.(?)" "p.(Arg1217Cys)" "" "0000292463" "00025323" "50" "3772" "0" "3772" "0" "c.3772C>T" "r.(?)" "p.(Arg1258Cys)" "" "0000292464" "00001339" "10" "4132" "0" "4132" "0" "c.4132C>T" "r.(?)" "p.(Arg1378Trp)" "" "0000292464" "00025323" "10" "4255" "0" "4255" "0" "c.4255C>T" "r.(?)" "p.(Arg1419Trp)" "" "0000292465" "00001339" "30" "4167" "3" "4167" "3" "c.4167+3G>A" "r.spl?" "p.?" "" "0000292465" "00025323" "30" "4290" "3" "4290" "3" "c.4290+3G>A" "r.spl?" "p.?" "" "0000292466" "00001339" "30" "4608" "0" "4608" "0" "c.4608C>T" "r.(?)" "p.(Ser1536=)" "" "0000292466" "00025323" "30" "4731" "0" "4731" "0" "c.4731C>T" "r.(?)" "p.(Ser1577=)" "" "0000292467" "00001339" "50" "5026" "0" "5026" "0" "c.5026C>T" "r.(?)" "p.(Arg1676Trp)" "" "0000292467" "00025323" "50" "5149" "0" "5149" "0" "c.5149C>T" "r.(?)" "p.(Arg1717Trp)" "" "0000292468" "00001339" "30" "5091" "0" "5091" "0" "c.5091G>A" "r.(?)" "p.(Lys1697=)" "" "0000292468" "00025323" "30" "5214" "0" "5214" "0" "c.5214G>A" "r.(?)" "p.(Lys1738=)" "" "0000292469" "00001339" "30" "5104" "0" "5104" "0" "c.5104C>T" "r.(?)" "p.(Leu1702=)" "" "0000292469" "00025323" "30" "5227" "0" "5227" "0" "c.5227C>T" "r.(?)" "p.(Leu1743=)" "" "0000292470" "00001339" "50" "5407" "0" "5407" "0" "c.5407G>A" "r.(?)" "p.(Gly1803Arg)" "" "0000292470" "00025323" "50" "5530" "0" "5530" "0" "c.5530G>A" "r.(?)" "p.(Gly1844Arg)" "" "0000292471" "00001339" "50" "5765" "0" "5765" "0" "c.5765G>A" "r.(?)" "p.(Arg1922His)" "" "0000292471" "00025323" "50" "5888" "0" "5888" "0" "c.5888G>A" "r.(?)" "p.(Arg1963His)" "" "0000292472" "00001339" "10" "786" "21" "786" "21" "c.786+21G>A" "r.(=)" "p.(=)" "" "0000292472" "00025323" "10" "810" "21" "810" "21" "c.810+21G>A" "r.(=)" "p.(=)" "" "0000338341" "00001339" "10" "2704" "-9" "2704" "-9" "c.2704-9A>C" "r.(=)" "p.(=)" "" "0000338341" "00025323" "10" "2827" "-9" "2827" "-9" "c.2827-9A>C" "r.(=)" "p.(=)" "" "0000338342" "00001339" "10" "2910" "11" "2910" "11" "c.2910+11T>C" "r.(=)" "p.(=)" "" "0000338342" "00025323" "10" "3033" "11" "3033" "11" "c.3033+11T>C" "r.(=)" "p.(=)" "" "0000338343" "00001339" "10" "3557" "9" "3557" "9" "c.3557+9C>T" "r.(=)" "p.(=)" "" "0000338343" "00025323" "10" "3680" "9" "3680" "9" "c.3680+9C>T" "r.(=)" "p.(=)" "" "0000339059" "00001339" "50" "2413" "0" "2413" "0" "c.2413G>A" "r.(?)" "p.(Asp805Asn)" "" "0000339059" "00025323" "50" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Asp846Asn)" "" "0000340830" "00001339" "10" "2895" "0" "2895" "0" "c.2895G>A" "r.(?)" "p.(Leu965=)" "" "0000340830" "00025323" "10" "3018" "0" "3018" "0" "c.3018G>A" "r.(?)" "p.(Leu1006=)" "" "0000341435" "00001339" "50" "1241" "0" "1241" "0" "c.1241C>G" "r.(?)" "p.(Ala414Gly)" "" "0000341435" "00025323" "50" "1265" "0" "1265" "0" "c.1265C>G" "r.(?)" "p.(Ala422Gly)" "" "0000341744" "00001339" "50" "3281" "0" "3281" "0" "c.3281G>A" "r.(?)" "p.(Arg1094Gln)" "" "0000341744" "00025323" "50" "3404" "0" "3404" "0" "c.3404G>A" "r.(?)" "p.(Arg1135Gln)" "" "0000341968" "00001339" "30" "4462" "0" "4462" "0" "c.4462C>T" "r.(?)" "p.(Arg1488Cys)" "" "0000341968" "00025323" "30" "4585" "0" "4585" "0" "c.4585C>T" "r.(?)" "p.(Arg1529Cys)" "" "0000341993" "00001339" "50" "4570" "0" "4570" "0" "c.4570C>T" "r.(?)" "p.(Arg1524Trp)" "" "0000341993" "00025323" "50" "4693" "0" "4693" "0" "c.4693C>T" "r.(?)" "p.(Arg1565Trp)" "" "0000342072" "00001339" "50" "5053" "0" "5053" "0" "c.5053C>T" "r.(?)" "p.(Arg1685Trp)" "" "0000342072" "00025323" "50" "5176" "0" "5176" "0" "c.5176C>T" "r.(?)" "p.(Arg1726Trp)" "" "0000343511" "00001339" "50" "2741" "0" "2741" "0" "c.2741G>A" "r.(?)" "p.(Arg914Gln)" "" "0000343511" "00025323" "50" "2864" "0" "2864" "0" "c.2864G>A" "r.(?)" "p.(Arg955Gln)" "" "0000344622" "00001339" "50" "560" "0" "560" "0" "c.560A>G" "r.(?)" "p.(Gln187Arg)" "" "0000344622" "00025323" "50" "560" "0" "560" "0" "c.560A>G" "r.(?)" "p.(Gln187Arg)" "" "0000345610" "00001339" "30" "2848" "0" "2848" "0" "c.2848G>A" "r.(?)" "p.(Glu950Lys)" "" "0000345610" "00025323" "30" "2971" "0" "2971" "0" "c.2971G>A" "r.(?)" "p.(Glu991Lys)" "" "0000345697" "00001339" "30" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Gly132Ser)" "" "0000345697" "00025323" "30" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Gly132Ser)" "" "0000345807" "00001339" "50" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Gly180Glu)" "" "0000345807" "00025323" "50" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Gly180Glu)" "" "0000346254" "00001339" "30" "2114" "0" "2114" "0" "c.2114G>C" "r.(?)" "p.(Gly705Ala)" "" "0000346254" "00025323" "30" "2237" "0" "2237" "0" "c.2237G>C" "r.(?)" "p.(Gly746Ala)" "" "0000348573" "00001339" "10" "2127" "0" "2127" "0" "c.2127A>G" "r.(?)" "p.(Pro709=)" "" "0000348573" "00025323" "10" "2250" "0" "2250" "0" "c.2250A>G" "r.(?)" "p.(Pro750=)" "" "0000349259" "00001339" "30" "3524" "0" "3524" "0" "c.3524C>T" "r.(?)" "p.(Thr1175Met)" "" "0000349259" "00025323" "30" "3647" "0" "3647" "0" "c.3647C>T" "r.(?)" "p.(Thr1216Met)" "" "0000349260" "00001339" "50" "3536" "0" "3536" "0" "c.3536C>T" "r.(?)" "p.(Thr1179Ile)" "" "0000349260" "00025323" "50" "3659" "0" "3659" "0" "c.3659C>T" "r.(?)" "p.(Thr1220Ile)" "" "0000349261" "00001339" "30" "3581" "0" "3581" "0" "c.3581C>T" "r.(?)" "p.(Thr1194Met)" "" "0000349261" "00025323" "30" "3704" "0" "3704" "0" "c.3704C>T" "r.(?)" "p.(Thr1235Met)" "" "0000349587" "00001339" "50" "1901" "0" "1901" "0" "c.1901C>T" "r.(?)" "p.(Thr634Met)" "" "0000349587" "00025323" "50" "1925" "0" "1925" "0" "c.1925C>T" "r.(?)" "p.(Thr642Met)" "" "0000350757" "00001339" "30" "5664" "5" "5664" "5" "c.5664+5G>T" "r.spl?" "p.?" "" "0000350757" "00025323" "30" "5787" "5" "5787" "5" "c.5787+5G>T" "r.spl?" "p.?" "" "0000351269" "00001339" "30" "4608" "0" "4608" "0" "c.4608C>T" "r.(?)" "p.(Ser1536=)" "" "0000351269" "00025323" "30" "4731" "0" "4731" "0" "c.4731C>T" "r.(?)" "p.(Ser1577=)" "" "0000438539" "00025323" "90" "1067" "0" "1067" "0" "c.1067C>T" "r.(?)" "p.(Thr356Met)" "" "0000568095" "00001339" "30" "36" "0" "36" "0" "c.36G>A" "r.(?)" "p.(Lys12=)" "" "0000568095" "00025323" "30" "36" "0" "36" "0" "c.36G>A" "r.(?)" "p.(Lys12=)" "" "0000568096" "00001339" "50" "169" "0" "173" "0" "c.169_173del" "r.(?)" "p.(Trp57AlafsTer132)" "" "0000568096" "00025323" "50" "169" "0" "173" "0" "c.169_173del" "r.(?)" "p.(Trp57AlafsTer132)" "" "0000568097" "00001339" "50" "173" "0" "174" "0" "c.173_174insAA" "r.(?)" "p.(Pro59SerfsTer42)" "" "0000568097" "00025323" "50" "173" "0" "174" "0" "c.173_174insAA" "r.(?)" "p.(Pro59SerfsTer42)" "" "0000568098" "00001339" "10" "192" "0" "192" "0" "c.192G>T" "r.(?)" "p.(Gly64=)" "" "0000568098" "00025323" "10" "192" "0" "192" "0" "c.192G>T" "r.(?)" "p.(Gly64=)" "" "0000568099" "00001339" "50" "263" "0" "263" "0" "c.263G>C" "r.(?)" "p.(Arg88Pro)" "" "0000568099" "00025323" "50" "263" "0" "263" "0" "c.263G>C" "r.(?)" "p.(Arg88Pro)" "" "0000568100" "00001339" "30" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Gly132Ser)" "" "0000568100" "00025323" "30" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Gly132Ser)" "" "0000568101" "00001339" "30" "420" "0" "420" "0" "c.420T>C" "r.(?)" "p.(Leu140=)" "" "0000568101" "00025323" "30" "420" "0" "420" "0" "c.420T>C" "r.(?)" "p.(Leu140=)" "" "0000568102" "00001339" "30" "483" "0" "483" "0" "c.483G>A" "r.(?)" "p.(Met161Ile)" "" "0000568102" "00025323" "30" "483" "0" "483" "0" "c.483G>A" "r.(?)" "p.(Met161Ile)" "" "0000568103" "00001339" "50" "769" "0" "769" "0" "c.769G>A" "r.(?)" "p.(Asp257Asn)" "" "0000568103" "00025323" "50" "793" "0" "793" "0" "c.793G>A" "r.(?)" "p.(Asp265Asn)" "" "0000568104" "00001339" "50" "796" "0" "796" "0" "c.796A>G" "r.(?)" "p.(Ile266Val)" "" "0000568104" "00025323" "50" "820" "0" "820" "0" "c.820A>G" "r.(?)" "p.(Ile274Val)" "" "0000568105" "00001339" "50" "796" "0" "796" "0" "c.796A>G" "r.(?)" "p.(Ile266Val)" "" "0000568105" "00025323" "50" "820" "0" "820" "0" "c.820A>G" "r.(?)" "p.(Ile274Val)" "" "0000568106" "00001339" "30" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Val272Ile)" "" "0000568106" "00025323" "30" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Val280Ile)" "" "0000568107" "00001339" "50" "839" "0" "839" "0" "c.839A>G" "r.(?)" "p.(Asn280Ser)" "" "0000568107" "00025323" "50" "863" "0" "863" "0" "c.863A>G" "r.(?)" "p.(Asn288Ser)" "" "0000568108" "00001339" "30" "842" "0" "842" "0" "c.842T>C" "r.(?)" "p.(Ile281Thr)" "" "0000568108" "00025323" "30" "866" "0" "866" "0" "c.866T>C" "r.(?)" "p.(Ile289Thr)" "" "0000568109" "00001339" "30" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Leu366=)" "" "0000568109" "00025323" "30" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Leu374=)" "" "0000568110" "00001339" "30" "1126" "0" "1126" "0" "c.1126G>T" "r.(?)" "p.(Gly376Cys)" "" "0000568110" "00025323" "30" "1150" "0" "1150" "0" "c.1150G>T" "r.(?)" "p.(Gly384Cys)" "" "0000568111" "00001339" "30" "1181" "0" "1181" "0" "c.1181A>G" "r.(?)" "p.(Asn394Ser)" "" "0000568111" "00025323" "30" "1205" "0" "1205" "0" "c.1205A>G" "r.(?)" "p.(Asn402Ser)" "" "0000568112" "00001339" "30" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(Tyr448=)" "" "0000568112" "00025323" "30" "1368" "0" "1368" "0" "c.1368C>T" "r.(?)" "p.(Tyr456=)" "" "0000568113" "00001339" "50" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" "" "0000568113" "00025323" "50" "1373" "0" "1373" "0" "c.1373G>A" "r.(?)" "p.(Arg458His)" "" "0000568114" "00001339" "30" "1358" "0" "1358" "0" "c.1358G>T" "r.(?)" "p.(Arg453Leu)" "" "0000568114" "00025323" "30" "1382" "0" "1382" "0" "c.1382G>T" "r.(?)" "p.(Arg461Leu)" "" "0000568115" "00001339" "50" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.(Asp533Asn)" "" "0000568115" "00025323" "50" "1621" "0" "1621" "0" "c.1621G>A" "r.(?)" "p.(Asp541Asn)" "" "0000568116" "00001339" "30" "1628" "0" "1628" "0" "c.1628G>A" "r.(?)" "p.(Arg543Gln)" "" "0000568116" "00025323" "30" "1652" "0" "1652" "0" "c.1652G>A" "r.(?)" "p.(Arg551Gln)" "" "0000568117" "00001339" "30" "1797" "0" "1797" "0" "c.1797C>T" "r.(?)" "p.(Tyr599=)" "" "0000568117" "00025323" "30" "1821" "0" "1821" "0" "c.1821C>T" "r.(?)" "p.(Tyr607=)" "" "0000568118" "00001339" "30" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(Arg632Trp)" "" "0000568118" "00025323" "30" "1918" "0" "1918" "0" "c.1918C>T" "r.(?)" "p.(Arg640Trp)" "" "0000568119" "00001339" "10" "1922" "-2033" "1922" "-2033" "c.1922-2033G>A" "r.(=)" "p.(=)" "" "0000568119" "00025323" "10" "1992" "0" "1992" "0" "c.1992G>A" "r.(?)" "p.(Pro664=)" "" "0000568120" "00001339" "30" "1922" "-2033" "1922" "-2033" "c.1922-2033G>A" "r.(=)" "p.(=)" "" "0000568120" "00025323" "30" "1992" "0" "1992" "0" "c.1992G>A" "r.(?)" "p.(Pro664=)" "" "0000568121" "00001339" "30" "1922" "-2025" "1922" "-2025" "c.1922-2025C>A" "r.(=)" "p.(=)" "" "0000568121" "00025323" "30" "2000" "0" "2000" "0" "c.2000C>A" "r.(?)" "p.(Pro667Gln)" "" "0000568122" "00001339" "50" "1922" "-1999" "1922" "-1999" "c.1922-1999G>A" "r.(=)" "p.(=)" "" "0000568122" "00025323" "50" "2026" "0" "2026" "0" "c.2026G>A" "r.(?)" "p.(Ala676Thr)" "" "0000568123" "00001339" "50" "2128" "0" "2128" "0" "c.2128C>T" "r.(?)" "p.(Arg710Trp)" "" "0000568123" "00025323" "50" "2251" "0" "2251" "0" "c.2251C>T" "r.(?)" "p.(Arg751Trp)" "" "0000568124" "00001339" "10" "2232" "-17" "2232" "-17" "c.2232-17C>T" "r.(=)" "p.(=)" "" "0000568124" "00025323" "10" "2355" "-17" "2355" "-17" "c.2355-17C>T" "r.(=)" "p.(=)" "" "0000568125" "00001339" "10" "2232" "-17" "2232" "-17" "c.2232-17C>T" "r.(=)" "p.(=)" "" "0000568125" "00025323" "10" "2355" "-17" "2355" "-17" "c.2355-17C>T" "r.(=)" "p.(=)" "" "0000568126" "00001339" "30" "2477" "0" "2477" "0" "c.2477G>A" "r.(?)" "p.(Arg826His)" "" "0000568126" "00025323" "30" "2600" "0" "2600" "0" "c.2600G>A" "r.(?)" "p.(Arg867His)" "" "0000568127" "00001339" "50" "2512" "0" "2512" "0" "c.2512C>T" "r.(?)" "p.(Arg838Trp)" "" "0000568127" "00025323" "50" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879Trp)" "" "0000568128" "00001339" "50" "2522" "0" "2522" "0" "c.2522C>T" "r.(?)" "p.(Ala841Val)" "" "0000568128" "00025323" "50" "2645" "0" "2645" "0" "c.2645C>T" "r.(?)" "p.(Ala882Val)" "" "0000568129" "00001339" "50" "2522" "0" "2522" "0" "c.2522C>T" "r.(?)" "p.(Ala841Val)" "" "0000568129" "00025323" "50" "2645" "0" "2645" "0" "c.2645C>T" "r.(?)" "p.(Ala882Val)" "" "0000568130" "00001339" "30" "2522" "0" "2522" "0" "c.2522C>T" "r.(?)" "p.(Ala841Val)" "" "0000568130" "00025323" "30" "2645" "0" "2645" "0" "c.2645C>T" "r.(?)" "p.(Ala882Val)" "" "0000568131" "00001339" "30" "2669" "0" "2669" "0" "c.2669G>A" "r.(?)" "p.(Arg890His)" "" "0000568131" "00025323" "30" "2792" "0" "2792" "0" "c.2792G>A" "r.(?)" "p.(Arg931His)" "" "0000568132" "00001339" "10" "2669" "0" "2669" "0" "c.2669G>A" "r.(?)" "p.(Arg890His)" "" "0000568132" "00025323" "10" "2792" "0" "2792" "0" "c.2792G>A" "r.(?)" "p.(Arg931His)" "" "0000568133" "00001339" "50" "2848" "0" "2848" "0" "c.2848G>A" "r.(?)" "p.(Glu950Lys)" "" "0000568133" "00025323" "50" "2971" "0" "2971" "0" "c.2971G>A" "r.(?)" "p.(Glu991Lys)" "" "0000568134" "00001339" "50" "2975" "0" "2975" "0" "c.2975C>T" "r.(?)" "p.(Thr992Met)" "" "0000568134" "00025323" "50" "3098" "0" "3098" "0" "c.3098C>T" "r.(?)" "p.(Thr1033Met)" "" "0000568135" "00001339" "50" "3098" "0" "3098" "0" "c.3098C>G" "r.(?)" "p.(Ala1033Gly)" "" "0000568135" "00025323" "50" "3221" "0" "3221" "0" "c.3221C>G" "r.(?)" "p.(Ala1074Gly)" "" "0000568137" "00001339" "30" "3345" "-3" "3345" "-3" "c.3345-3dup" "r.spl?" "p.?" "" "0000568137" "00025323" "30" "3468" "-3" "3468" "-3" "c.3468-3dup" "r.spl?" "p.?" "" "0000568138" "00001339" "50" "3439" "0" "3439" "0" "c.3439G>C" "r.(?)" "p.(Glu1147Gln)" "" "0000568138" "00025323" "50" "3562" "0" "3562" "0" "c.3562G>C" "r.(?)" "p.(Glu1188Gln)" "" "0000568139" "00001339" "50" "3536" "0" "3536" "0" "c.3536C>T" "r.(?)" "p.(Thr1179Ile)" "" "0000568139" "00025323" "50" "3659" "0" "3659" "0" "c.3659C>T" "r.(?)" "p.(Thr1220Ile)" "" "0000568140" "00001339" "10" "3540" "0" "3540" "0" "c.3540C>T" "r.(?)" "p.(Asn1180=)" "" "0000568140" "00025323" "10" "3663" "0" "3663" "0" "c.3663C>T" "r.(?)" "p.(Asn1221=)" "" "0000568141" "00001339" "50" "3596" "0" "3596" "0" "c.3596C>T" "r.(?)" "p.(Thr1199Ile)" "" "0000568141" "00025323" "50" "3719" "0" "3719" "0" "c.3719C>T" "r.(?)" "p.(Thr1240Ile)" "" "0000568142" "00001339" "50" "3622" "0" "3622" "0" "c.3622G>A" "r.(?)" "p.(Glu1208Lys)" "" "0000568142" "00025323" "50" "3745" "0" "3745" "0" "c.3745G>A" "r.(?)" "p.(Glu1249Lys)" "" "0000568143" "00001339" "10" "3626" "0" "3626" "0" "c.3626C>A" "r.(?)" "p.(Ala1209Glu)" "" "0000568143" "00025323" "10" "3749" "0" "3749" "0" "c.3749C>A" "r.(?)" "p.(Ala1250Glu)" "" "0000568144" "00001339" "30" "3748" "0" "3748" "0" "c.3748G>T" "r.(?)" "p.(Val1250Leu)" "" "0000568144" "00025323" "30" "3871" "0" "3871" "0" "c.3871G>T" "r.(?)" "p.(Val1291Leu)" "" "0000568145" "00001339" "30" "3888" "0" "3888" "0" "c.3888T>G" "r.(?)" "p.(Ala1296=)" "" "0000568145" "00025323" "30" "4011" "0" "4011" "0" "c.4011T>G" "r.(?)" "p.(Ala1337=)" "" "0000568146" "00001339" "30" "4015" "-13" "4015" "-13" "c.4015-13C>T" "r.(=)" "p.(=)" "" "0000568146" "00025323" "30" "4138" "-13" "4138" "-13" "c.4138-13C>T" "r.(=)" "p.(=)" "" "0000568147" "00001339" "50" "4187" "0" "4187" "0" "c.4187G>A" "r.(?)" "p.(Arg1396His)" "" "0000568147" "00025323" "50" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437His)" "" "0000568148" "00001339" "50" "4231" "0" "4231" "0" "c.4231C>T" "r.(?)" "p.(Arg1411Trp)" "" "0000568148" "00025323" "50" "4354" "0" "4354" "0" "c.4354C>T" "r.(?)" "p.(Arg1452Trp)" "" "0000568149" "00001339" "50" "4313" "0" "4313" "0" "c.4313G>T" "r.(?)" "p.(Gly1438Val)" "" "0000568149" "00025323" "50" "4436" "0" "4436" "0" "c.4436G>T" "r.(?)" "p.(Gly1479Val)" "" "0000568150" "00001339" "30" "4341" "0" "4341" "0" "c.4341C>T" "r.(?)" "p.(Asp1447=)" "" "0000568150" "00025323" "30" "4464" "0" "4464" "0" "c.4464C>T" "r.(?)" "p.(Asp1488=)" "" "0000568151" "00001339" "30" "4714" "0" "4714" "0" "c.4714C>T" "r.(?)" "p.(Leu1572=)" "" "0000568151" "00025323" "30" "4837" "0" "4837" "0" "c.4837C>T" "r.(?)" "p.(Leu1613=)" "" "0000568152" "00001339" "50" "4806" "0" "4806" "0" "c.4806G>T" "r.(?)" "p.(Glu1602Asp)" "" "0000568152" "00025323" "50" "4929" "0" "4929" "0" "c.4929G>T" "r.(?)" "p.(Glu1643Asp)" "" "0000568153" "00001339" "10" "4959" "0" "4959" "0" "c.4959C>T" "r.(?)" "p.(Ala1653=)" "" "0000568153" "00025323" "10" "5082" "0" "5082" "0" "c.5082C>T" "r.(?)" "p.(Ala1694=)" "" "0000568154" "00001339" "30" "4960" "0" "4960" "0" "c.4960G>C" "r.(?)" "p.(Gly1654Arg)" "" "0000568154" "00025323" "30" "5083" "0" "5083" "0" "c.5083G>C" "r.(?)" "p.(Gly1695Arg)" "" "0000568155" "00001339" "50" "5078" "0" "5078" "0" "c.5078G>A" "r.(?)" "p.(Arg1693Gln)" "" "0000568155" "00025323" "50" "5201" "0" "5201" "0" "c.5201G>A" "r.(?)" "p.(Arg1734Gln)" "" "0000568156" "00001339" "30" "5147" "0" "5147" "0" "c.5147C>T" "r.(?)" "p.(Ser1716Leu)" "" "0000568156" "00025323" "30" "5270" "0" "5270" "0" "c.5270C>T" "r.(?)" "p.(Ser1757Leu)" "" "0000568157" "00001339" "10" "5158" "0" "5158" "0" "c.5158C>A" "r.(?)" "p.(Arg1720=)" "" "0000568157" "00025323" "10" "5281" "0" "5281" "0" "c.5281C>A" "r.(?)" "p.(Arg1761=)" "" "0000568158" "00001339" "50" "5180" "0" "5180" "0" "c.5180G>A" "r.(?)" "p.(Arg1727Gln)" "" "0000568158" "00025323" "50" "5303" "0" "5303" "0" "c.5303G>A" "r.(?)" "p.(Arg1768Gln)" "" "0000568159" "00001339" "10" "5555" "12" "5555" "12" "c.5555+12C>T" "r.(=)" "p.(=)" "" "0000568159" "00025323" "10" "5678" "12" "5678" "12" "c.5678+12C>T" "r.(=)" "p.(=)" "" "0000568160" "00001339" "10" "5555" "12" "5555" "12" "c.5555+12C>T" "r.(=)" "p.(=)" "" "0000568160" "00025323" "10" "5678" "12" "5678" "12" "c.5678+12C>T" "r.(=)" "p.(=)" "" "0000568161" "00001339" "50" "5735" "0" "5735" "0" "c.5735G>A" "r.(?)" "p.(Arg1912Gln)" "" "0000568161" "00025323" "50" "5858" "0" "5858" "0" "c.5858G>A" "r.(?)" "p.(Arg1953Gln)" "" "0000568162" "00001339" "50" "5935" "0" "5935" "0" "c.5935G>A" "r.(?)" "p.(Gly1979Arg)" "" "0000568162" "00025323" "50" "6058" "0" "6058" "0" "c.6058G>A" "r.(?)" "p.(Gly2020Arg)" "" "0000568163" "00001339" "30" "5965" "0" "5966" "0" "c.5965_5966insGCCC" "r.(?)" "p.(Ser1989CysfsTer18)" "" "0000568163" "00025323" "30" "6088" "0" "6089" "0" "c.6088_6089insGCCC" "r.(?)" "p.(Ser2030CysfsTer18)" "" "0000568166" "00001339" "30" "5970" "0" "5970" "0" "c.5970A>C" "r.(?)" "p.(Pro1990=)" "" "0000568166" "00025323" "30" "6093" "0" "6093" "0" "c.6093A>C" "r.(?)" "p.(Pro2031=)" "" "0000568167" "00001339" "30" "5973" "0" "5973" "0" "c.5973A>C" "r.(?)" "p.(Pro1991=)" "" "0000568167" "00025323" "30" "6096" "0" "6096" "0" "c.6096A>C" "r.(?)" "p.(Pro2032=)" "" "0000568168" "00001339" "30" "5973" "0" "5974" "0" "c.5973_5974del" "r.(?)" "p.(Ala1992ProfsTer13)" "" "0000568168" "00025323" "30" "6096" "0" "6097" "0" "c.6096_6097del" "r.(?)" "p.(Ala2033ProfsTer13)" "" "0000568169" "00001339" "30" "5973" "0" "5974" "0" "c.5973_5974del" "r.(?)" "p.(Ala1992ProfsTer13)" "" "0000568169" "00025323" "30" "6096" "0" "6097" "0" "c.6096_6097del" "r.(?)" "p.(Ala2033ProfsTer13)" "" "0000568170" "00001339" "30" "5974" "0" "5974" "0" "c.5974G>C" "r.(?)" "p.(Ala1992Pro)" "" "0000568170" "00025323" "30" "6097" "0" "6097" "0" "c.6097G>C" "r.(?)" "p.(Ala2033Pro)" "" "0000568171" "00001339" "30" "5974" "0" "5974" "0" "c.5974G>C" "r.(?)" "p.(Ala1992Pro)" "" "0000568171" "00025323" "30" "6097" "0" "6097" "0" "c.6097G>C" "r.(?)" "p.(Ala2033Pro)" "" "0000568172" "00001339" "30" "5978" "0" "5978" "0" "c.5978A>C" "r.(?)" "p.(His1993Pro)" "" "0000568172" "00025323" "30" "6101" "0" "6101" "0" "c.6101A>C" "r.(?)" "p.(His2034Pro)" "" "0000568174" "00001339" "30" "5984" "0" "5988" "0" "c.5984_5988del" "r.(?)" "p.(Gln1995ProfsTer9)" "" "0000568174" "00025323" "30" "6107" "0" "6111" "0" "c.6107_6111del" "r.(?)" "p.(Gln2036ProfsTer9)" "" "0000568175" "00001339" "30" "5984" "0" "5988" "0" "c.5984_5988del" "r.(?)" "p.(Gln1995ProfsTer9)" "" "0000568175" "00025323" "30" "6107" "0" "6111" "0" "c.6107_6111del" "r.(?)" "p.(Gln2036ProfsTer9)" "" "0000604243" "00001339" "70" "4486" "0" "4486" "0" "c.4486del" "r.(?)" "p.(Arg1496Glyfs*10)" "" "0000617819" "00001339" "30" "525" "0" "525" "0" "c.525C>T" "r.(?)" "p.(Tyr175=)" "" "0000617819" "00025323" "30" "525" "0" "525" "0" "c.525C>T" "r.(?)" "p.(Tyr175=)" "" "0000617820" "00001339" "30" "1895" "0" "1895" "0" "c.1895G>A" "r.(?)" "p.(Arg632Gln)" "" "0000617820" "00025323" "30" "1919" "0" "1919" "0" "c.1919G>A" "r.(?)" "p.(Arg640Gln)" "" "0000617821" "00001339" "10" "1922" "-1984" "1922" "-1984" "c.1922-1984G>C" "r.(=)" "p.(=)" "" "0000617821" "00025323" "10" "2041" "0" "2041" "0" "c.2041G>C" "r.(?)" "p.(Gly681Arg)" "" "0000617822" "00001339" "30" "4015" "-18" "4015" "-18" "c.4015-18C>T" "r.(=)" "p.(=)" "" "0000617822" "00025323" "30" "4138" "-18" "4138" "-18" "c.4138-18C>T" "r.(=)" "p.(=)" "" "0000617823" "00001339" "30" "4067" "0" "4067" "0" "c.4067G>A" "r.(?)" "p.(Arg1356Gln)" "" "0000617823" "00025323" "30" "4190" "0" "4190" "0" "c.4190G>A" "r.(?)" "p.(Arg1397Gln)" "" "0000617824" "00001339" "50" "4487" "0" "4487" "0" "c.4487G>A" "r.(?)" "p.(Arg1496Gln)" "" "0000617824" "00025323" "50" "4610" "0" "4610" "0" "c.4610G>A" "r.(?)" "p.(Arg1537Gln)" "" "0000617825" "00001339" "30" "5965" "0" "5966" "0" "c.5965_5966insGC" "r.(?)" "p.(Ser1989CysfsTer40)" "" "0000617825" "00025323" "30" "6088" "0" "6089" "0" "c.6088_6089insGC" "r.(?)" "p.(Ser2030CysfsTer40)" "" "0000617826" "00001339" "30" "5965" "0" "5966" "0" "c.5965_5966insGCCC" "r.(?)" "p.(Ser1989CysfsTer18)" "" "0000617826" "00025323" "30" "6088" "0" "6089" "0" "c.6088_6089insGCCC" "r.(?)" "p.(Ser2030CysfsTer18)" "" "0000624057" "00001339" "50" "728" "0" "728" "0" "c.728C>A" "r.(?)" "p.(Pro243His)" "" "0000624057" "00025323" "50" "752" "0" "752" "0" "c.752C>A" "r.(?)" "p.(Pro251His)" "" "0000624058" "00001339" "50" "2528" "0" "2528" "0" "c.2528A>G" "r.(?)" "p.(Tyr843Cys)" "" "0000624058" "00025323" "50" "2651" "0" "2651" "0" "c.2651A>G" "r.(?)" "p.(Tyr884Cys)" "" "0000624059" "00001339" "50" "3476" "0" "3476" "0" "c.3476G>A" "r.(?)" "p.(Arg1159Gln)" "" "0000624059" "00025323" "50" "3599" "0" "3599" "0" "c.3599G>A" "r.(?)" "p.(Arg1200Gln)" "" "0000624060" "00001339" "30" "3971" "0" "3971" "0" "c.3971G>A" "r.(?)" "p.(Ser1324Asn)" "" "0000624060" "00025323" "30" "4094" "0" "4094" "0" "c.4094G>A" "r.(?)" "p.(Ser1365Asn)" "" "0000624061" "00001339" "10" "4473" "0" "4473" "0" "c.4473C>T" "r.(?)" "p.(Ala1491=)" "" "0000624061" "00025323" "10" "4596" "0" "4596" "0" "c.4596C>T" "r.(?)" "p.(Ala1532=)" "" "0000624062" "00001339" "50" "5179" "0" "5179" "0" "c.5179C>T" "r.(?)" "p.(Arg1727Trp)" "" "0000624062" "00025323" "50" "5302" "0" "5302" "0" "c.5302C>T" "r.(?)" "p.(Arg1768Trp)" "" "0000624063" "00001339" "10" "5343" "0" "5343" "0" "c.5343G>A" "r.(?)" "p.(Leu1781=)" "" "0000624063" "00025323" "10" "5466" "0" "5466" "0" "c.5466G>A" "r.(?)" "p.(Leu1822=)" "" "0000624064" "00001339" "30" "5965" "0" "5965" "0" "c.5965T>A" "r.(?)" "p.(Ser1989Thr)" "" "0000624064" "00025323" "30" "6088" "0" "6088" "0" "c.6088T>A" "r.(?)" "p.(Ser2030Thr)" "" "0000642190" "00001339" "99" "20" "0" "20" "0" "c.20C>A" "r.(?)" "p.(Ser7*)" "2" "0000642191" "00001339" "33" "33" "0" "33" "0" "c.33G>A" "r.(=)" "p.(=)" "2" "0000642192" "00001339" "99" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Ser120Leu)" "2" "0000642193" "00001339" "33" "534" "0" "534" "0" "c.534C>T" "r.(=)" "p.(=)" "3" "0000642194" "00001339" "99" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Ala181Thr)" "3" "0000642195" "00001339" "33" "590" "13" "590" "13" "c.590+13G>A" "r.(=)" "p.(=)" "4i" "0000642196" "00001339" "33" "693" "12" "693" "12" "c.693+12C>T" "r.(=)" "p.(=)" "5i" "0000642197" "00001339" "33" "786" "0" "786" "0" "c.786C>T" "r.(=)" "p.(=)" "6" "0000642198" "00001339" "55" "925" "0" "925" "0" "c.925G>A" "r.(?)" "p.(Gly309Arg)" "8" "0000642199" "00001339" "55" "1071" "0" "1071" "0" "c.1071C>A" "r.(?)" "p.(Phe357Leu)" "9" "0000642200" "00001339" "33" "1091" "-4" "1091" "-4" "c.1091-4C>T" "r.spl?" "p.?" "9i" "0000642201" "00001339" "55" "1241" "0" "1241" "0" "c.1241C>G" "r.(?)" "p.(Ala414Gly)" "11" "0000642202" "00001339" "33" "1251" "0" "1251" "0" "c.1251C>T" "r.(=)" "p.(=)" "11" "0000642203" "00001339" "55" "1277" "0" "1277" "0" "c.1277A>G" "r.(?)" "p.(Tyr426Cys)" "11" "0000642204" "00001339" "99" "1314" "0" "1314" "0" "c.1314del" "r.(?)" "p.(Phe438Leufs*50)" "12" "0000642205" "00001339" "55" "1358" "0" "1358" "0" "c.1358G>A" "r.(?)" "p.(Arg453His)" "12" "0000642206" "00001339" "33" "1509" "0" "1509" "0" "c.1509G>A" "r.(=)" "p.(=)" "13" "0000642207" "00001339" "33" "1601" "0" "1601" "0" "c.1601T>G" "r.(?)" "p.(Leu534Arg)" "13" "0000642208" "00001339" "33" "1602" "0" "1602" "0" "c.1602G>A" "r.(=)" "p.(=)" "13" "0000642209" "00001339" "55" "1631" "0" "1631" "0" "c.1631C>T" "r.(?)" "p.(Pro544Leu)" "13" "0000642210" "00001339" "55" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(Arg632Trp)" "15" "0000642211" "00001339" "33" "1922" "-2033" "1922" "-2033" "c.1922-2033G>A" "r.(=)" "p.(=)" "15i" "0000642212" "00001339" "99" "2176" "0" "2176" "0" "c.2176C>A" "r.(?)" "p.(Arg726Ser)" "17" "0000642213" "00001339" "77" "2569" "0" "2569" "0" "c.2569A>C" "r.(?)" "p.(Lys857Gln)" "20" "0000642214" "00001339" "99" "2594" "0" "2594" "0" "c.2594C>T" "r.(?)" "p.(Thr865Met)" "21" "0000642215" "00001339" "55" "2717" "0" "2717" "0" "c.2717G>A" "r.(?)" "p.(Arg906His)" "22" "0000642216" "00001339" "99" "2798" "0" "2798" "0" "c.2798G>T" "r.(?)" "p.(Arg933Leu)" "22" "0000642217" "00001339" "99" "2926" "0" "2926" "0" "c.2926C>T" "r.(?)" "p.(Leu976Phe)" "23" "0000642218" "00001339" "55" "3181" "0" "3181" "0" "c.3181C>T" "r.(?)" "p.(Arg1061Trp)" "25" "0000642219" "00001339" "55" "3344" "1" "3344" "1" "c.3344+1G>A" "r.spl?" "p.?" "25i" "0000642220" "00001339" "55" "3352" "0" "3352" "0" "c.3352G>T" "r.(?)" "p.(Asp1118Tyr)" "26" "0000642221" "00001339" "33" "3462" "0" "3462" "0" "c.3462G>A" "r.(=)" "p.(=)" "26" "0000642222" "00001339" "55" "3506" "0" "3506" "0" "c.3506G>A" "r.(?)" "p.(Arg1169Gln)" "26" "0000642223" "00001339" "33" "3654" "0" "3654" "0" "c.3654C>T" "r.(=)" "p.(=)" "27" "0000642224" "00001339" "33" "3655" "0" "3655" "0" "c.3655G>A" "r.(?)" "p.(Gly1219Ser)" "27" "0000642225" "00001339" "33" "3933" "0" "3933" "0" "c.3933G>A" "r.(=)" "p.(=)" "29" "0000642226" "00001339" "55" "3965" "0" "3965" "0" "c.3965G>A" "r.(?)" "p.(Arg1322His)" "29" "0000642227" "00001339" "33" "4029" "0" "4029" "0" "c.4029G>A" "r.(=)" "p.(=)" "30" "0000642228" "00001339" "55" "4136" "0" "4136" "0" "c.4136C>T" "r.(?)" "p.(Ala1379Val)" "30" "0000642229" "00001339" "55" "4141" "0" "4141" "0" "c.4141C>T" "r.(?)" "p.(Arg1381Cys)" "30" "0000642230" "00001339" "55" "4247" "0" "4247" "0" "c.4247G>A" "r.(?)" "p.(Arg1416Gln)" "31" "0000642231" "00001339" "55" "4270" "0" "4270" "0" "c.4270C>T" "r.(?)" "p.(Arg1424Cys)" "31" "0000642232" "00001339" "55" "4316" "0" "4316" "0" "c.4316G>A" "r.(?)" "p.(Arg1439His)" "31" "0000642233" "00001339" "55" "4318" "0" "4318" "0" "c.4318C>T" "r.(?)" "p.(Arg1440Cys)" "31" "0000642234" "00001339" "55" "4363" "0" "4363" "0" "c.4363C>G" "r.(?)" "p.(Gln1455Glu)" "31" "0000642235" "00001339" "33" "4416" "10" "4416" "10" "c.4416+10C>T" "r.(=)" "p.(=)" "31i" "0000642236" "00001339" "55" "4582" "0" "4582" "0" "c.4582G>T" "r.(?)" "p.(Ala1528Ser)" "32" "0000642237" "00001339" "99" "4780" "0" "4780" "0" "c.4780G>A" "r.(?)" "p.(Glu1594Lys)" "33" "0000642238" "00001339" "33" "4820" "0" "4820" "0" "c.4820G>A" "r.(?)" "p.(Arg1607Lys)" "33" "0000642239" "00001339" "99" "4885" "0" "4885" "0" "c.4885C>T" "r.(?)" "p.(Arg1629Cys)" "34" "0000642240" "00001339" "33" "4953" "0" "4953" "0" "c.4953C>A" "r.(=)" "p.(=)" "34" "0000642241" "00001339" "33" "4960" "0" "4960" "0" "c.4960G>C" "r.(?)" "p.(Gly1654Arg)" "34" "0000642242" "00001339" "33" "5005" "-12" "5005" "-12" "c.5005-12C>T" "r.(=)" "p.(=)" "34i" "0000642243" "00001339" "11" "5104" "0" "5104" "0" "c.5104C>T" "r.(=)" "p.(=)" "35" "0000642244" "00001339" "55" "5148" "0" "5148" "0" "c.5148G>A" "r.(=)" "p.(=)" "36" "0000642245" "00001339" "55" "5323" "0" "5323" "0" "c.5323C>T" "r.(?)" "p.(Arg1775Cys)" "37" "0000642246" "00001339" "55" "5753" "0" "5753" "0" "c.5753G>A" "r.(?)" "p.(Arg1918Gln)" "40" "0000642247" "00001339" "55" "5836" "0" "5836" "0" "c.5836C>T" "r.(?)" "p.(Arg1946*)" "40" "0000642248" "00001339" "99" "5893" "0" "5893" "0" "c.5893G>T" "r.(?)" "p.(Glu1965*)" "41" "0000642249" "00001339" "55" "5965" "0" "5965" "0" "c.5965T>A" "r.(?)" "p.(Ser1989Thr)" "41" "0000644805" "00025323" "50" "3304" "0" "3304" "0" "c.3304C>T" "r.(?)" "p.(Arg1102Trp)" "27" "0000650040" "00001339" "30" "483" "0" "483" "0" "c.483G>A" "r.(?)" "p.(Met161Ile)" "" "0000650040" "00025323" "30" "483" "0" "483" "0" "c.483G>A" "r.(?)" "p.(Met161Ile)" "" "0000650041" "00001339" "50" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Cys)" "" "0000650041" "00025323" "50" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Cys)" "" "0000650042" "00001339" "30" "1126" "0" "1126" "0" "c.1126G>T" "r.(?)" "p.(Gly376Cys)" "" "0000650042" "00025323" "30" "1150" "0" "1150" "0" "c.1150G>T" "r.(?)" "p.(Gly384Cys)" "" "0000650043" "00001339" "30" "3626" "0" "3626" "0" "c.3626C>A" "r.(?)" "p.(Ala1209Glu)" "" "0000650043" "00025323" "30" "3749" "0" "3749" "0" "c.3749C>A" "r.(?)" "p.(Ala1250Glu)" "" "0000658641" "00001339" "50" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "" "0000658641" "00025323" "50" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "" "0000658642" "00001339" "30" "2110" "-13" "2110" "-13" "c.2110-13C>A" "r.(=)" "p.(=)" "" "0000658642" "00025323" "30" "2233" "-13" "2233" "-13" "c.2233-13C>A" "r.(=)" "p.(=)" "" "0000658643" "00001339" "50" "4784" "0" "4784" "0" "c.4784G>A" "r.(?)" "p.(Arg1595His)" "" "0000658643" "00025323" "50" "4907" "0" "4907" "0" "c.4907G>A" "r.(?)" "p.(Arg1636His)" "" "0000681487" "00001339" "30" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "" "0000681487" "00025323" "30" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "" "0000681488" "00001339" "50" "1315" "0" "1315" "0" "c.1315G>A" "r.(?)" "p.(Ala439Thr)" "" "0000681488" "00025323" "50" "1339" "0" "1339" "0" "c.1339G>A" "r.(?)" "p.(Ala447Thr)" "" "0000681490" "00001339" "50" "2717" "0" "2717" "0" "c.2717G>A" "r.(?)" "p.(Arg906His)" "" "0000681490" "00025323" "50" "2840" "0" "2840" "0" "c.2840G>A" "r.(?)" "p.(Arg947His)" "" "0000686186" "00001339" "50" "5942" "0" "5942" "0" "c.5942G>C" "r.(?)" "p.(Gly1981Ala)" "" "0000686186" "00025323" "50" "6065" "0" "6065" "0" "c.6065G>C" "r.(?)" "p.(Gly2022Ala)" "" "0000692870" "00001339" "30" "1101" "0" "1101" "0" "c.1101G>T" "r.(?)" "p.(Arg367=)" "" "0000692870" "00025323" "30" "1125" "0" "1125" "0" "c.1125G>T" "r.(?)" "p.(Arg375=)" "" "0000692871" "00001339" "50" "2975" "0" "2975" "0" "c.2975C>T" "r.(?)" "p.(Thr992Met)" "" "0000692871" "00025323" "50" "3098" "0" "3098" "0" "c.3098C>T" "r.(?)" "p.(Thr1033Met)" "" "0000692872" "00001339" "50" "3860" "0" "3860" "0" "c.3860A>T" "r.(?)" "p.(Asp1287Val)" "" "0000692872" "00025323" "50" "3983" "0" "3983" "0" "c.3983A>T" "r.(?)" "p.(Asp1328Val)" "" "0000695604" "00025323" "50" "4936" "0" "4936" "0" "c.4936G>A" "r.(?)" "p.(Glu1646Lys)" "" "0000697632" "00001339" "70" "576" "0" "576" "0" "c.576G>C" "r.(?)" "p.(Gln192His)" "" "0000703972" "00025323" "50" "95" "0" "95" "0" "c.95G>A" "r.(?)" "p.(Arg32His)" "" "0000711034" "00025323" "50" "1418" "0" "1418" "0" "c.1418G>A" "r.(?)" "p.(Arg473His)" "" "0000714112" "00025323" "70" "2326" "0" "2326" "0" "c.2326C>T" "r.(?)" "p.(Arg776Cys)" "" "0000727489" "00001339" "30" "1395" "0" "1395" "0" "c.1395C>T" "r.(?)" "p.(Arg465=)" "" "0000727489" "00025323" "30" "1419" "0" "1419" "0" "c.1419C>T" "r.(?)" "p.(Arg473=)" "" "0000727490" "00001339" "30" "2520" "0" "2520" "0" "c.2520C>T" "r.(?)" "p.(Cys840=)" "" "0000727490" "00025323" "30" "2643" "0" "2643" "0" "c.2643C>T" "r.(?)" "p.(Cys881=)" "" "0000727491" "00001339" "50" "2905" "0" "2905" "0" "c.2905A>G" "r.(?)" "p.(Ile969Val)" "" "0000727491" "00025323" "50" "3028" "0" "3028" "0" "c.3028A>G" "r.(?)" "p.(Ile1010Val)" "" "0000727492" "00001339" "30" "3173" "-13" "3173" "-13" "c.3173-13C>T" "r.(=)" "p.(=)" "" "0000727492" "00025323" "30" "3296" "-13" "3296" "-13" "c.3296-13C>T" "r.(=)" "p.(=)" "" "0000727493" "00001339" "50" "4270" "0" "4270" "0" "c.4270C>T" "r.(?)" "p.(Arg1424Cys)" "" "0000727493" "00025323" "50" "4393" "0" "4393" "0" "c.4393C>T" "r.(?)" "p.(Arg1465Cys)" "" "0000727494" "00001339" "10" "4618" "0" "4618" "0" "c.4618G>A" "r.(?)" "p.(Val1540Ile)" "" "0000727494" "00025323" "10" "4741" "0" "4741" "0" "c.4741G>A" "r.(?)" "p.(Val1581Ile)" "" "0000727495" "00001339" "30" "5349" "0" "5349" "0" "c.5349A>G" "r.(?)" "p.(Val1783=)" "" "0000727495" "00025323" "30" "5472" "0" "5472" "0" "c.5472A>G" "r.(?)" "p.(Val1824=)" "" "0000727496" "00001339" "30" "5868" "0" "5868" "0" "c.5868G>A" "r.(?)" "p.(Thr1956=)" "" "0000727496" "00025323" "30" "5991" "0" "5991" "0" "c.5991G>A" "r.(?)" "p.(Thr1997=)" "" "0000760746" "00025323" "50" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Val280Ile)" "" "0000764170" "00025323" "50" "4732" "0" "4732" "0" "c.4732A>G" "r.(?)" "p.(Lys1578Glu)" "34" "0000794786" "00025323" "70" "2299" "0" "2299" "0" "c.2299C>T" "r.(?)" "p.(Arg767Cys)" "" "0000808990" "00001339" "30" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Cys)" "" "0000808990" "00025323" "30" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Cys)" "" "0000808991" "00001339" "50" "1921" "5" "1921" "5" "c.1921+5G>A" "r.spl?" "p.?" "" "0000808991" "00025323" "50" "1945" "5" "1945" "5" "c.1945+5G>A" "r.spl?" "p.?" "" "0000808992" "00001339" "50" "2975" "0" "2975" "0" "c.2975C>T" "r.(?)" "p.(Thr992Met)" "" "0000808992" "00025323" "50" "3098" "0" "3098" "0" "c.3098C>T" "r.(?)" "p.(Thr1033Met)" "" "0000808993" "00001339" "50" "3290" "0" "3290" "0" "c.3290A>G" "r.(?)" "p.(Glu1097Gly)" "" "0000808993" "00025323" "50" "3413" "0" "3413" "0" "c.3413A>G" "r.(?)" "p.(Glu1138Gly)" "" "0000808994" "00001339" "30" "3744" "0" "3744" "0" "c.3744C>T" "r.(?)" "p.(Ala1248=)" "" "0000808994" "00025323" "30" "3867" "0" "3867" "0" "c.3867C>T" "r.(?)" "p.(Ala1289=)" "" "0000808995" "00001339" "50" "4238" "0" "4238" "0" "c.4238G>A" "r.(?)" "p.(Arg1413Gln)" "" "0000808995" "00025323" "50" "4361" "0" "4361" "0" "c.4361G>A" "r.(?)" "p.(Arg1454Gln)" "" "0000808996" "00001339" "50" "5129" "0" "5129" "0" "c.5129A>G" "r.(?)" "p.(Gln1710Arg)" "" "0000808996" "00025323" "50" "5252" "0" "5252" "0" "c.5252A>G" "r.(?)" "p.(Gln1751Arg)" "" "0000808997" "00001339" "50" "5425" "0" "5425" "0" "c.5425C>T" "r.(?)" "p.(Arg1809Trp)" "" "0000808997" "00025323" "50" "5548" "0" "5548" "0" "c.5548C>T" "r.(?)" "p.(Arg1850Trp)" "" "0000808998" "00001339" "50" "5443" "0" "5443" "0" "c.5443C>T" "r.(?)" "p.(Arg1815Trp)" "" "0000808998" "00025323" "50" "5566" "0" "5566" "0" "c.5566C>T" "r.(?)" "p.(Arg1856Trp)" "" "0000808999" "00001339" "30" "5964" "0" "5964" "0" "c.5964G>T" "r.(?)" "p.(Gly1988=)" "" "0000808999" "00025323" "30" "6087" "0" "6087" "0" "c.6087G>T" "r.(?)" "p.(Gly2029=)" "" "0000839365" "00025323" "50" "1822" "0" "1822" "0" "c.1822G>A" "r.(?)" "p.(Ala608Thr)" "" "0000847479" "00001339" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "9" "0000855670" "00001339" "30" "693" "810" "693" "810" "c.693+810C>A" "r.(=)" "p.(=)" "" "0000855670" "00025323" "30" "699" "0" "699" "0" "c.699C>A" "r.(?)" "p.(Ser233=)" "" "0000855671" "00001339" "50" "703" "0" "703" "0" "c.703G>C" "r.(?)" "p.(Glu235Gln)" "" "0000855671" "00025323" "50" "727" "0" "727" "0" "c.727G>C" "r.(?)" "p.(Glu243Gln)" "" "0000855673" "00001339" "50" "4798" "0" "4798" "0" "c.4798C>T" "r.(?)" "p.(Arg1600Cys)" "" "0000855673" "00025323" "50" "4921" "0" "4921" "0" "c.4921C>T" "r.(?)" "p.(Arg1641Cys)" "" "0000855674" "00001339" "50" "4906" "0" "4906" "0" "c.4906C>T" "r.(?)" "p.(Arg1636Cys)" "" "0000855674" "00025323" "50" "5029" "0" "5029" "0" "c.5029C>T" "r.(?)" "p.(Arg1677Cys)" "" "0000866236" "00001339" "10" "33" "0" "33" "0" "c.33G>C" "r.(?)" "p.(Arg11=)" "" "0000866236" "00025323" "10" "33" "0" "33" "0" "c.33G>C" "r.(?)" "p.(Arg11=)" "" "0000866237" "00001339" "50" "1220" "0" "1220" "0" "c.1220G>A" "r.(?)" "p.(Gly407Glu)" "" "0000866237" "00025323" "50" "1244" "0" "1244" "0" "c.1244G>A" "r.(?)" "p.(Gly415Glu)" "" "0000866238" "00001339" "70" "1282" "0" "1282" "0" "c.1282C>T" "r.(?)" "p.(Gln428*)" "" "0000866238" "00025323" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Gln436*)" "" "0000866239" "00001339" "50" "2522" "0" "2522" "0" "c.2522C>T" "r.(?)" "p.(Ala841Val)" "" "0000866239" "00025323" "50" "2645" "0" "2645" "0" "c.2645C>T" "r.(?)" "p.(Ala882Val)" "" "0000866240" "00001339" "50" "3439" "0" "3439" "0" "c.3439G>C" "r.(?)" "p.(Glu1147Gln)" "" "0000866240" "00025323" "50" "3562" "0" "3562" "0" "c.3562G>C" "r.(?)" "p.(Glu1188Gln)" "" "0000866241" "00001339" "50" "3727" "0" "3727" "0" "c.3727C>T" "r.(?)" "p.(Arg1243Trp)" "" "0000866241" "00025323" "50" "3850" "0" "3850" "0" "c.3850C>T" "r.(?)" "p.(Arg1284Trp)" "" "0000866242" "00001339" "30" "4960" "0" "4960" "0" "c.4960G>C" "r.(?)" "p.(Gly1654Arg)" "" "0000866242" "00025323" "30" "5083" "0" "5083" "0" "c.5083G>C" "r.(?)" "p.(Gly1695Arg)" "" "0000866243" "00001339" "30" "5477" "0" "5477" "0" "c.5477G>A" "r.(?)" "p.(Arg1826His)" "" "0000866243" "00025323" "30" "5600" "0" "5600" "0" "c.5600G>A" "r.(?)" "p.(Arg1867His)" "" "0000873464" "00025323" "70" "3040" "0" "3040" "0" "c.3040G>C" "r.(?)" "p.(Glu1014Gln)" "" "0000895091" "00001339" "30" "960" "0" "960" "0" "c.960C>T" "r.(?)" "p.(Leu320=)" "" "0000895091" "00025323" "30" "984" "0" "984" "0" "c.984C>T" "r.(?)" "p.(Leu328=)" "" "0000895092" "00001339" "30" "1895" "0" "1895" "0" "c.1895G>A" "r.(?)" "p.(Arg632Gln)" "" "0000895092" "00025323" "30" "1919" "0" "1919" "0" "c.1919G>A" "r.(?)" "p.(Arg640Gln)" "" "0000895093" "00001339" "50" "2126" "0" "2126" "0" "c.2126C>T" "r.(?)" "p.(Pro709Leu)" "" "0000895093" "00025323" "50" "2249" "0" "2249" "0" "c.2249C>T" "r.(?)" "p.(Pro750Leu)" "" "0000895094" "00001339" "50" "3510" "0" "3510" "0" "c.3510C>T" "r.(?)" "p.(Gly1170=)" "" "0000895094" "00025323" "50" "3633" "0" "3633" "0" "c.3633C>T" "r.(?)" "p.(Gly1211=)" "" "0000895095" "00001339" "30" "3557" "0" "3557" "0" "c.3557G>A" "r.(?)" "p.(Arg1186Gln)" "" "0000895095" "00025323" "30" "3680" "0" "3680" "0" "c.3680G>A" "r.(?)" "p.(Arg1227Gln)" "" "0000895097" "00001339" "50" "5444" "0" "5444" "0" "c.5444G>A" "r.(?)" "p.(Arg1815Gln)" "" "0000895097" "00025323" "50" "5567" "0" "5567" "0" "c.5567G>A" "r.(?)" "p.(Arg1856Gln)" "" "0000895098" "00001339" "30" "5727" "0" "5727" "0" "c.5727G>A" "r.(?)" "p.(Glu1909=)" "" "0000895098" "00025323" "30" "5850" "0" "5850" "0" "c.5850G>A" "r.(?)" "p.(Glu1950=)" "" "0000895099" "00001339" "50" "5966" "0" "5966" "0" "c.5966C>A" "r.(?)" "p.(Ser1989Tyr)" "" "0000895099" "00025323" "50" "6089" "0" "6089" "0" "c.6089C>A" "r.(?)" "p.(Ser2030Tyr)" "" "0000909813" "00001339" "90" "1751" "0" "1751" "0" "c.1751G>A" "r.(?)" "p.(Arg584Gln)" "" "0000909813" "00025323" "90" "1775" "0" "1775" "0" "c.1775G>A" "r.(?)" "p.(Arg592Gln)" "" "0000915281" "00001339" "30" "2231" "21" "2231" "21" "c.2231+21dup" "r.(=)" "p.(=)" "" "0000915281" "00025323" "30" "2354" "21" "2354" "21" "c.2354+21dup" "r.(=)" "p.(=)" "" "0000926930" "00001339" "50" "371" "0" "371" "0" "c.371A>G" "r.(?)" "p.(Asn124Ser)" "" "0000926930" "00025323" "50" "371" "0" "371" "0" "c.371A>G" "r.(?)" "p.(Asn124Ser)" "" "0000926931" "00001339" "30" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(Arg384Trp)" "" "0000926931" "00025323" "30" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Arg392Trp)" "" "0000926932" "00001339" "50" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Arg1061Gln)" "" "0000926932" "00025323" "50" "3305" "0" "3305" "0" "c.3305G>A" "r.(?)" "p.(Arg1102Gln)" "" "0000931089" "00001339" "30" "1091" "-4" "1091" "-4" "c.1091-4C>T" "r.spl?" "p.?" "" "0000931089" "00025323" "30" "1115" "-4" "1115" "-4" "c.1115-4C>T" "r.spl?" "p.?" "" "0000931090" "00001339" "50" "1442" "0" "1442" "0" "c.1442G>A" "r.(?)" "p.(Gly481Asp)" "" "0000931090" "00025323" "50" "1466" "0" "1466" "0" "c.1466G>A" "r.(?)" "p.(Gly489Asp)" "" "0000931091" "00001339" "50" "3355" "0" "3355" "0" "c.3355G>A" "r.(?)" "p.(Glu1119Lys)" "" "0000931091" "00025323" "50" "3478" "0" "3478" "0" "c.3478G>A" "r.(?)" "p.(Glu1160Lys)" "" "0000931092" "00001339" "30" "5045" "0" "5045" "0" "c.5045G>A" "r.(?)" "p.(Arg1682His)" "" "0000931092" "00025323" "30" "5168" "0" "5168" "0" "c.5168G>A" "r.(?)" "p.(Arg1723His)" "" "0000931093" "00001339" "50" "5872" "0" "5872" "0" "c.5872C>T" "r.(?)" "p.(Arg1958Cys)" "" "0000931093" "00025323" "50" "5995" "0" "5995" "0" "c.5995C>T" "r.(?)" "p.(Arg1999Cys)" "" "0000944336" "00001339" "70" "3745" "0" "3745" "0" "c.3745G>A" "r.(?)" "p.(Glu1249Lys)" "" "0000944366" "00001339" "70" "5599" "0" "5599" "0" "c.5599C>T," "r.(?)" "p.(Arg1867Trp)" "" "0000951335" "00001339" "50" "2758" "0" "2758" "0" "c.2758T>C" "r.(?)" "p.(Cys920Arg)" "" "0000951335" "00025323" "50" "2881" "0" "2881" "0" "c.2881T>C" "r.(?)" "p.(Cys961Arg)" "" "0000951336" "00001339" "50" "3472" "0" "3472" "0" "c.3472C>T" "r.(?)" "p.(Arg1158Cys)" "" "0000951336" "00025323" "50" "3595" "0" "3595" "0" "c.3595C>T" "r.(?)" "p.(Arg1199Cys)" "" "0000951337" "00001339" "50" "3815" "0" "3815" "0" "c.3815G>A" "r.(?)" "p.(Arg1272His)" "" "0000951337" "00025323" "50" "3938" "0" "3938" "0" "c.3938G>A" "r.(?)" "p.(Arg1313His)" "" "0000951338" "00001339" "30" "3888" "0" "3888" "0" "c.3888T>G" "r.(?)" "p.(Ala1296=)" "" "0000951338" "00025323" "30" "4011" "0" "4011" "0" "c.4011T>G" "r.(?)" "p.(Ala1337=)" "" "0000960143" "00001339" "50" "4733" "0" "4733" "0" "c.4733C>G" "r.(?)" "p.(Ala1578Gly)" "" "0000960143" "00025323" "50" "4856" "0" "4856" "0" "c.4856C>G" "r.(?)" "p.(Ala1619Gly)" "" "0000969859" "00001339" "50" "1892" "0" "1892" "0" "c.1892A>T" "r.(?)" "p.(Asp631Val)" "" "0000969859" "00025323" "50" "1916" "0" "1916" "0" "c.1916A>T" "r.(?)" "p.(Asp639Val)" "" "0000969860" "00001339" "30" "3900" "0" "3900" "0" "c.3900G>A" "r.(?)" "p.(=)" "" "0000969860" "00025323" "30" "4023" "0" "4023" "0" "c.4023G>A" "r.(?)" "p.(=)" "" "0000969861" "00001339" "30" "4813" "0" "4813" "0" "c.4813G>A" "r.(?)" "p.(Glu1605Lys)" "" "0000969861" "00025323" "30" "4936" "0" "4936" "0" "c.4936G>A" "r.(?)" "p.(Glu1646Lys)" "" "0000969862" "00001339" "10" "5406" "0" "5406" "0" "c.5406C>T" "r.(?)" "p.(=)" "" "0000969862" "00025323" "10" "5529" "0" "5529" "0" "c.5529C>T" "r.(?)" "p.(=)" "" "0000983609" "00001339" "50" "2578" "0" "2578" "0" "c.2578C>A" "r.(?)" "p.(Pro860Thr)" "" "0000983609" "00025323" "50" "2701" "0" "2701" "0" "c.2701C>A" "r.(?)" "p.(Pro901Thr)" "" "0001005026" "00001339" "30" "794" "0" "794" "0" "c.794T>C" "r.(?)" "p.(Phe265Ser)" "" "0001005026" "00025323" "30" "818" "0" "818" "0" "c.818T>C" "r.(?)" "p.(Phe273Ser)" "" "0001005027" "00001339" "30" "949" "5" "949" "5" "c.949+5G>A" "r.spl?" "p.?" "" "0001005027" "00025323" "30" "973" "5" "973" "5" "c.973+5G>A" "r.spl?" "p.?" "" "0001005028" "00001339" "50" "979" "0" "979" "0" "c.979T>C" "r.(?)" "p.(Tyr327His)" "" "0001005028" "00025323" "50" "1003" "0" "1003" "0" "c.1003T>C" "r.(?)" "p.(Tyr335His)" "" "0001005029" "00001339" "50" "1043" "0" "1043" "0" "c.1043C>T" "r.(?)" "p.(Thr348Met)" "" "0001005029" "00025323" "50" "1067" "0" "1067" "0" "c.1067C>T" "r.(?)" "p.(Thr356Met)" "" "0001005030" "00001339" "10" "1701" "0" "1701" "0" "c.1701G>A" "r.(?)" "p.(=)" "" "0001005030" "00025323" "10" "1725" "0" "1725" "0" "c.1725G>A" "r.(?)" "p.(=)" "" "0001005031" "00001339" "50" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Arg735Cys)" "" "0001005031" "00025323" "50" "2326" "0" "2326" "0" "c.2326C>T" "r.(?)" "p.(Arg776Cys)" "" "0001015823" "00001339" "50" "5635" "0" "5635" "0" "c.5635C>T" "r.(?)" "p.(Arg1879Trp)" "" "0001015823" "00025323" "50" "5758" "0" "5758" "0" "c.5758C>T" "r.(?)" "p.(Arg1920Trp)" "" "0001019334" "00025323" "10" "3749" "0" "3749" "0" "c.3749C>A" "r.(?)" "p.(Ala1250Glu)" "" "0001023917" "00025323" "50" "3298" "0" "3298" "0" "c.3298C>T" "r.(?)" "p.(Arg1100Cys)" "" "0001027244" "00001339" "70" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Ser120Leu)" "" "0001027244" "00025323" "70" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Ser120Leu)" "" "0001027245" "00001339" "50" "2558" "0" "2558" "0" "c.2558G>A" "r.(?)" "p.(Arg853Gln)" "" "0001027245" "00025323" "50" "2681" "0" "2681" "0" "c.2681G>A" "r.(?)" "p.(Arg894Gln)" "" "0001043121" "00001339" "30" "-3" "-269" "-3" "-269" "c.-3-269C>A" "r.(=)" "p.(=)" "" "0001043121" "00025323" "30" "-3" "-269" "-3" "-269" "c.-3-269C>A" "r.(=)" "p.(=)" "" "0001043122" "00001339" "30" "4608" "0" "4608" "0" "c.4608C>T" "r.(?)" "p.(Ser1536=)" "" "0001043122" "00025323" "30" "4731" "0" "4731" "0" "c.4731C>T" "r.(?)" "p.(Ser1577=)" "" "0001043123" "00001339" "50" "5753" "0" "5753" "0" "c.5753G>A" "r.(?)" "p.(Arg1918Gln)" "" "0001043123" "00025323" "50" "5876" "0" "5876" "0" "c.5876G>A" "r.(?)" "p.(Arg1959Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 84 "{{screeningid}}" "{{variantid}}" "0000000210" "0000013841" "0000059125" "0000089924" "0000059125" "0000089925" "0000059126" "0000089926" "0000059127" "0000089927" "0000080091" "0000128970" "0000081539" "0000132195" "0000081539" "0000132196" "0000208622" "0000438539" "0000270483" "0000604243" "0000286448" "0000642190" "0000286449" "0000642191" "0000286450" "0000642192" "0000286451" "0000642193" "0000286452" "0000642194" "0000286453" "0000642195" "0000286454" "0000642196" "0000286455" "0000642197" "0000286456" "0000642198" "0000286457" "0000642199" "0000286458" "0000642200" "0000286459" "0000642201" "0000286460" "0000642202" "0000286461" "0000642203" "0000286462" "0000642204" "0000286463" "0000642205" "0000286464" "0000642206" "0000286465" "0000642207" "0000286466" "0000642208" "0000286467" "0000642209" "0000286468" "0000642210" "0000286469" "0000642211" "0000286470" "0000642212" "0000286471" "0000642213" "0000286472" "0000642214" "0000286473" "0000642215" "0000286474" "0000642216" "0000286475" "0000642217" "0000286476" "0000642218" "0000286477" "0000642219" "0000286478" "0000642220" "0000286479" "0000642221" "0000286480" "0000642222" "0000286481" "0000642223" "0000286482" "0000642224" "0000286483" "0000642225" "0000286484" "0000642226" "0000286485" "0000642227" "0000286486" "0000642228" "0000286487" "0000642229" "0000286488" "0000642230" "0000286489" "0000642231" "0000286490" "0000642232" "0000286491" "0000642233" "0000286492" "0000642234" "0000286493" "0000642235" "0000286494" "0000642236" "0000286495" "0000642237" "0000286496" "0000642238" "0000286497" "0000642239" "0000286498" "0000642240" "0000286499" "0000642241" "0000286500" "0000642242" "0000286501" "0000642243" "0000286502" "0000642244" "0000286503" "0000642245" "0000286504" "0000642246" "0000286505" "0000642247" "0000286506" "0000642248" "0000286507" "0000642249" "0000288548" "0000644805" "0000293351" "0000650040" "0000293352" "0000650041" "0000293353" "0000650042" "0000293354" "0000650043" "0000311016" "0000686186" "0000315543" "0000697632" "0000328226" "0000960143" "0000363483" "0000764170" "0000410213" "0000847479" "0000415630" "0000873464" "0000430083" "0000909813" "0000442977" "0000944336" "0000443007" "0000944366"