### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DYNC2H1) # 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}}" "DYNC2H1" "dynein, cytoplasmic 2, heavy chain 1" "11" "q21-q22.1" "unknown" "NG_016423.2" "UD_132118547658" "" "https://www.LOVD.nl/DYNC2H1" "" "1" "2962" "79659" "603297" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/DYNC2H1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-05-16 10:12:05" "00000" "2025-10-10 14:05:03" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00006794" "DYNC2H1" "transcript variant 2" "001" "NM_001080463.1" "" "NP_001073932.1" "" "" "" "-144" "13555" "12945" "102980160" "103350591" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00379" "SRTD1" "dysplasia, short-rib thoracic, type 1, with/without polydactyly (SRTD-1, dystrophy, asphyxiating thoracic; Jeune syndrome)" "" "208500" "" "" "" "00006" "2014-05-02 10:26:00" "00006" "2021-12-10 21:51:32" "00380" "SRTD3" "dysplasia, short-rib thoracic, type 3, with/without polydactyly (SRTD-3)" "AR;DR" "613091" "" "" "" "00006" "2014-05-02 17:15:21" "00006" "2021-12-10 21:51:32" "00603" "EVC" "Ellis-van Creveld syndrome (EVC)" "AR" "225500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05635" "SRTD" "dysplasia, short-rib thoracic, with/without polydactyly (SRTD) (Jeune syndrome)" "" "" "" "" "" "00006" "2019-07-28 13:54:33" "" "" "06890" "hamartoma" "hamartoma, hypothalamic" "" "" "" "" "" "00006" "2022-01-13 11:57:49" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "DYNC2H1" "00139" "DYNC2H1" "00380" "DYNC2H1" "05635" ## Individuals ## Do not remove or alter this header ## ## Count = 131 "{{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}}" "00016506" "" "" "" "5" "" "00638" "{PMID:Ellard 2015:24961629}, {DOI:Ellard 2015:10.1038/ejhg.2014.120}" "5 affected fetuses, from the same couple (unaffected heterozygous carrier), all terminated at 15-20 weeks gestation" "-" "no" "United Kingdom (Great Britain)" "00y00m00d" "0" "" "" "" "" "00058511" "" "" "" "1" "" "01396" "" "" "M" "no" "Brazil" "" "0" "" "" "" "" "00058521" "" "" "" "1" "" "01396" "" "" "M" "no" "Brazil" "" "0" "" "" "" "" "00058522" "" "" "" "1" "" "01396" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "F" "no" "Brazil" "" "0" "" "" "" "Pat20" "00058523" "" "" "" "1" "" "01396" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "M" "no" "Brazil" "" "0" "" "" "" "Pat21" "00095116" "" "" "" "1" "" "01586" "" "" "F" "?" "" "" "0" "Yes" "" "" "" "00132078" "" "" "" "1" "" "01396" "" "" "M" "no" "Brazil" "" "0" "" "" "" "9" "00290204" "" "" "" "103" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290205" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290206" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303382" "" "" "" "1" "" "00006" "Vig ESHG2020 C06.5, {PMID:Vig 2020:32753734}" "2-generation family, 1 affected" "F" "" "Canada" "" "0" "" "" "" "Pat1" "00303383" "" "" "" "2" "" "00006" "Vig ESHG2020 C06.5, {PMID:Vig 2020:32753734}" "4-generation family, 2 affected (2M)" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat2" "00303384" "" "" "" "1" "" "00006" "Vig ESHG2020 C06.5, {PMID:Vig 2020:32753734}" "3-generation family, 1 affected" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat3" "00303385" "" "" "" "1" "" "00006" "Vig ESHG2020 C06.5, {PMID:Vig 2020:32753734}" "3-generation family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat4" "00303386" "" "" "" "1" "" "00006" "Vig ESHG2020 C06.5, {PMID:Vig 2020:32753734}" "2-generation family, 1 affected" "F" "" "Poland" "" "0" "" "" "" "Pat5" "00304279" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331419" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "13DG0151" "00331420" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "15DG1678" "00331421" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "17DG0795" "00331422" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "17DG0796" "00359450" "" "" "" "1" "" "01709" "" "" "" "" "(Brazil)" "" "0" "" "" "" "" "00359451" "" "" "" "1" "" "01709" "" "" "" "" "(Brazil)" "" "0" "" "" "" "" "00359495" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "" "" "" "" "" "00359496" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "" "" "" "" "" "00359644" "" "" "" "1" "" "00006" "{PMID:Tang 2021:33777089}" "fetus, previous pregnancy with short long bones and narrow thorax" "" "" "China" "" "0" "" "" "" "Pat2" "00377051" "" "" "" "1" "" "01164" "" "prenatal Dx after abnormal ultatrasound" "F" "no" "Turkey" "" "0" "" "" "" "182209" "00377259" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "376" "00379747" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0089" "00388319" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R01-362" "00388320" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R06-012" "00388321" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R06-129A" "00388322" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "Latino" "R00-015" "00388323" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R00-113A" "00388324" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "African American" "R00-277" "00388325" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "African American" "R00-280" "00388326" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R00-294A" "00388327" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R00-407A" "00388328" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "African American" "R01-114" "00388329" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R01-241B" "00388330" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R01-489A" "00388331" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R02-122A" "00388332" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R02-181" "00388333" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "Latino" "R02-217A" "00388334" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R02-319" "00388335" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R02-420" "00388336" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R02-429A" "00388337" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R03-270A" "00388338" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R03-376A" "00388339" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R04-211A" "00388340" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R04-306A" "00388341" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R05-008" "00388342" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R05-244A" "00388343" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "East Asian" "R06-417" "00388344" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R06-527A" "00388345" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R06-537A" "00388346" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R07-104A" "00388347" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R07-610A" "00388348" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R08-012" "00388349" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R08-151B" "00388350" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R08-197A" "00388351" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "Latino" "R08-307" "00388352" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R08-327A" "00388353" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "Latino" "R08-328A" "00388354" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "South Asian" "R08-354A" "00388355" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "Latino" "R08-455A" "00388356" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "East Asian" "R08-583A" "00388357" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R09-266" "00388358" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R09-291A" "00388359" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R09-352A" "00388360" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R09-588A" "00388361" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "East Asian" "R10-157A" "00388362" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "African American" "R10-506A" "00388363" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R10-554" "00388364" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R11-061A" "00388365" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R11-349A" "00388366" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R11-447A" "00388367" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R12-038A" "00388368" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R13-033" "00388369" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "African American" "R13-229A" "00388370" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R14-109" "00388371" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "East Asian" "R86-127" "00388372" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R88-019C" "00388373" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "Latino" "R90-004" "00388374" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R93-175" "00388375" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R95-033" "00388376" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R96-155A" "00388377" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "Latino" "R96-159" "00388378" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R97-154" "00388379" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R97-244" "00388380" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "South Asian" "R97-258" "00388381" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R97-299" "00388382" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R97-309A" "00388383" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R99-040A" "00388384" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R99-055" "00388385" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R99-220A" "00388386" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R99-314A" "00388387" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R99-394" "00388388" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "Latino" "R11-630" "00388389" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R00-421A" "00388390" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "Latino" "R07-552A" "00388391" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R98-342A" "00388441" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "South Asian" "R10-070A" "00388442" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "white" "R04-138A" "00388443" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "white" "R05-350A" "00388444" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "white" "R08-134A" "00388445" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "white" "R08-150A" "00388446" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "Unknown" "R08-251" "00388447" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "Latino" "R08-488A" "00388448" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "Latino" "R09-009A" "00388449" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "South Asian" "R11-098A" "00388450" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "South Asian" "R12-088A" "00388451" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "white" "R96-010A" "00388452" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "white" "R97-030B" "00388453" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "white" "R97-051B" "00388454" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "white" "R98-417A" "00388464" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "African American" "R02-109" "00388465" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "white" "R94-040" "00388466" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "white" "R97-291" "00388467" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "East Asian" "R98-413A" "00393967" "" "" "" "1" "" "00000" "{PMID:Strong-2020:33369054}" "" "M" "" "" "" "0" "" "" "" "" "00396721" "" "" "" "1" "" "04116" "" "" "M" "" "" "" "0" "" "" "" "T25079" "00396722" "" "" "" "1" "" "04116" "" "" "M" "" "" "" "0" "" "" "" "T25080" "00405908" "" "" "" "1" "" "00774" "" "" "F" "no" "Italy" "" "" "" "" "" "" "00405910" "" "" "" "1" "" "00774" "" "" "M" "?" "Italy" "" "0" "" "" "" "" "00405911" "" "" "" "1" "" "00774" "" "" "M" "no" "Italy" "" "" "" "" "" "" "00405912" "" "" "" "1" "" "00774" "" "" "F" "no" "England" "" "" "" "" "" "" "00405954" "" "" "" "2" "" "00774" "" "" "F" "?" "Italy" "" "" "" "" "" "" "00405955" "" "" "" "1" "" "00774" "" "" "M" "no" "Albania" "" "" "" "" "" "" "00405956" "" "" "" "1" "" "00774" "" "" "F" "no" "Italy" "" "" "" "" "" "" "00409854" "" "" "" "1" "" "00774" "" "" "M" "?" "" "" "" "" "" "" "" "00409964" "" "" "" "1" "" "00006" "{PMID:Mei 2015:25982780}" "2-generation family, affected fetus, unaffected heterozygous carrier parents" "" "" "China" "" "0" "" "" "" "fetus" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 132 "{{individualid}}" "{{diseaseid}}" "00016506" "00380" "00058511" "00380" "00058521" "00380" "00058522" "00380" "00058523" "00379" "00058523" "00380" "00095116" "00380" "00132078" "00380" "00290204" "00198" "00290205" "00198" "00290206" "00198" "00303382" "04214" "00303383" "04214" "00303384" "04214" "00303385" "04214" "00303386" "04214" "00304279" "00198" "00331419" "05517" "00331420" "05517" "00331421" "05517" "00331422" "05517" "00359450" "05635" "00359451" "05635" "00359495" "05635" "00359496" "00603" "00359644" "05517" "00377051" "00380" "00377259" "04214" "00379747" "04210" "00388319" "00198" "00388320" "00198" "00388321" "00198" "00388322" "00198" "00388323" "00198" "00388324" "00198" "00388325" "00198" "00388326" "00198" "00388327" "00198" "00388328" "00198" "00388329" "00198" "00388330" "00198" "00388331" "00198" "00388332" "00198" "00388333" "00198" "00388334" "00198" "00388335" "00198" "00388336" "00198" "00388337" "00198" "00388338" "00198" "00388339" "00198" "00388340" "00198" "00388341" "00198" "00388342" "00198" "00388343" "00198" "00388344" "00198" "00388345" "00198" "00388346" "00198" "00388347" "00198" "00388348" "00198" "00388349" "00198" "00388350" "00198" "00388351" "00198" "00388352" "00198" "00388353" "00198" "00388354" "00198" "00388355" "00198" "00388356" "00198" "00388357" "00198" "00388358" "00198" "00388359" "00198" "00388360" "00198" "00388361" "00198" "00388362" "00198" "00388363" "00198" "00388364" "00198" "00388365" "00198" "00388366" "00198" "00388367" "00198" "00388368" "00198" "00388369" "00198" "00388370" "00198" "00388371" "00198" "00388372" "00198" "00388373" "00198" "00388374" "00198" "00388375" "00198" "00388376" "00198" "00388377" "00198" "00388378" "00198" "00388379" "00198" "00388380" "00198" "00388381" "00198" "00388382" "00198" "00388383" "00198" "00388384" "00198" "00388385" "00198" "00388386" "00198" "00388387" "00198" "00388388" "00198" "00388389" "00198" "00388390" "00198" "00388391" "00198" "00388441" "00198" "00388442" "00198" "00388443" "00198" "00388444" "00198" "00388445" "00198" "00388446" "00198" "00388447" "00198" "00388448" "00198" "00388449" "00198" "00388450" "00198" "00388451" "00198" "00388452" "00198" "00388453" "00198" "00388454" "00198" "00388464" "00198" "00388465" "00198" "00388466" "00198" "00388467" "00198" "00393967" "04214" "00396721" "06890" "00396722" "06890" "00405908" "00379" "00405910" "00603" "00405911" "05635" "00405912" "00380" "00405954" "00603" "00405955" "00380" "00405956" "00380" "00409854" "00379" "00409964" "05635" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00379, 00380, 00603, 04210, 04214, 05517, 05635, 06890 ## Count = 124 "{{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}}" "0000015180" "00380" "00016506" "00638" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045140" "00380" "00058511" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045142" "00380" "00058521" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045143" "00380" "00058522" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000073511" "00380" "00095116" "01586" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000104258" "00380" "00132078" "01396" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230458" "04214" "00303382" "00006" "Familial, autosomal recessive" "" "see paper; ..., non-syndromic autosomal recessive retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000230459" "04214" "00303383" "00006" "Familial, autosomal recessive" "" "see paper; ..., non-syndromic autosomal recessive retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000230460" "04214" "00303384" "00006" "Familial, autosomal recessive" "" "see paper; ..., non-syndromic autosomal recessive retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000230461" "04214" "00303385" "00006" "Familial, autosomal recessive" "" "see paper; ..., non-syndromic autosomal recessive retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000230462" "04214" "00303386" "00006" "Familial, autosomal recessive" "" "see paper; ..., non-syndromic autosomal recessive retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000249611" "05517" "00331419" "00000" "Familial, autosomal recessive" "" "Intrauterine growth retardation, Narrow chest, Abnormality of the renal pelvis" "" "" "" "" "" "" "" "" "Ciliopathies with major skeletal involvement" "skeletal dysplasia" "" "0000249612" "05517" "00331420" "00000" "Familial, autosomal recessive" "" "Pulmonary hypoplasia, Recurrent respiratory infections, Generalized hypotonia, Failure toYes" "" "" "" "" "" "" "" "" "Ciliopathies with major skeletal involvement" "skeletal dysplasia" "" "0000249613" "05517" "00331421" "00000" "Familial, autosomal recessive" "" "Short stature, Narrow chest, Short ribs" "" "" "" "" "" "" "" "" "Ciliopathies with major skeletal involvement" "skeletal dysplasia" "" "0000249614" "05517" "00331422" "00000" "Familial, autosomal recessive" "" "Anal atresia, Perineal fistula, Ventricular septal defect, Atrial septal defect, Feeding difficulYes" "" "" "" "" "" "" "" "" "Ciliopathies with major skeletal involvement" "skeletal dysplasia" "" "0000254691" "05635" "00359450" "01709" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Jeune syndrome" "" "0000254692" "05635" "00359451" "01709" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Jeune syndrome" "" "0000254917" "05517" "00359644" "00006" "Familial, autosomal recessive" "<0d" "25w-fetus narrow thorax thoracic circumference 118mm, short long bones, femur length 23 mm, umerus length 19 mm, polydactylia; renal sinus separation" "" "" "" "" "" "" "" "" "" "fetal skeletal dysplasia" "" "0000272241" "00380" "00377051" "01164" "Familial, autosomal recessive" "" "Short ribs, Abnormal skull morphology, Short femur, Dilation of lateral ventricles" "" "" "" "" "" "" "" "" "" "prenatal" "" "0000272417" "04214" "00377259" "00000" "Familial, autosomal recessive" "23y" "see paper" "22y" "22y" "" "" "" "" "" "" "" "retinal disease" "" "0000273601" "04210" "00379747" "03508" "Familial, autosomal recessive" "" "HP:0032122,\tHP:0001133,\tHP:0000639,\tHP:0001483,\tHP:0001100,\tHP:0000510" "" "" "" "" "" "" "" "" "" "" "" "0000281871" "00198" "00388319" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281872" "00198" "00388320" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281873" "00198" "00388321" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS II)" "" "0000281874" "00198" "00388322" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281875" "00198" "00388323" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281876" "00198" "00388324" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281877" "00198" "00388325" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281878" "00198" "00388326" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281879" "00198" "00388327" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281880" "00198" "00388328" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281881" "00198" "00388329" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281882" "00198" "00388330" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281883" "00198" "00388331" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281884" "00198" "00388332" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281885" "00198" "00388333" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281886" "00198" "00388334" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281887" "00198" "00388335" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281888" "00198" "00388336" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281889" "00198" "00388337" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281890" "00198" "00388338" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281891" "00198" "00388339" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281892" "00198" "00388340" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281893" "00198" "00388341" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281894" "00198" "00388342" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281895" "00198" "00388343" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281896" "00198" "00388344" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281897" "00198" "00388345" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281898" "00198" "00388346" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281899" "00198" "00388347" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281900" "00198" "00388348" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281901" "00198" "00388349" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281902" "00198" "00388350" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281903" "00198" "00388351" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281904" "00198" "00388352" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS I)" "" "0000281905" "00198" "00388353" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281906" "00198" "00388354" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281907" "00198" "00388355" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281908" "00198" "00388356" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281909" "00198" "00388357" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281910" "00198" "00388358" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281911" "00198" "00388359" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281912" "00198" "00388360" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281913" "00198" "00388361" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281914" "00198" "00388362" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281915" "00198" "00388363" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281916" "00198" "00388364" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281917" "00198" "00388365" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281918" "00198" "00388366" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281919" "00198" "00388367" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281920" "00198" "00388368" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281921" "00198" "00388369" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281922" "00198" "00388370" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281923" "00198" "00388371" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281924" "00198" "00388372" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281925" "00198" "00388373" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281926" "00198" "00388374" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281927" "00198" "00388375" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281928" "00198" "00388376" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281929" "00198" "00388377" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281930" "00198" "00388378" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281931" "00198" "00388379" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS I)" "" "0000281932" "00198" "00388380" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281933" "00198" "00388381" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281934" "00198" "00388382" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281935" "00198" "00388383" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281936" "00198" "00388384" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281937" "00198" "00388385" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281938" "00198" "00388386" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281939" "00198" "00388387" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281940" "00198" "00388388" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281941" "00198" "00388389" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281942" "00198" "00388390" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281943" "00198" "00388391" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281993" "00198" "00388441" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281994" "00198" "00388442" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281995" "00198" "00388443" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281996" "00198" "00388444" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000281997" "00198" "00388445" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS I)" "" "0000281998" "00198" "00388446" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281999" "00198" "00388447" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000282000" "00198" "00388448" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000282001" "00198" "00388449" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000282002" "00198" "00388450" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000282003" "00198" "00388451" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000282004" "00198" "00388452" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS II)" "" "0000282005" "00198" "00388453" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS III)" "" "0000282006" "00198" "00388454" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000282016" "00198" "00388464" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000282017" "00198" "00388465" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000282018" "00198" "00388466" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS IV)" "" "0000282019" "00198" "00388467" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000287173" "04214" "00393967" "00000" "Unknown" "30y" "" "" "" "" "" "" "" "" "" "" "Ciliopathies" "" "0000291906" "06890" "00396721" "04116" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "sporadic hypothalamic hamartoma" "" "0000291907" "06890" "00396722" "04116" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "sporadic hypothalamic hamartoma" "" "0000298404" "00379" "00405908" "00774" "Familial, autosomal recessive" "00y01m" "Oral frenula, short stature, narrow thorax, limb shortening, irregular metaphyses, bilateral hands postaxial polydactyly, pulmonary insufficiency" "" "00y01m" "" "" "" "" "" "" "Jeune syndrome" "Jeune syndrome" "" "0000298407" "00603" "00405910" "00774" "Familial, autosomal recessive" "" "Oral frenula, dental anomalies, short stature, narrow thorax, limb shortening, bilateral hands postaxial polydactyly, unilateral feet postaxial polydactyly, inguinal hernia, plyhydramnios" "" "" "" "" "" "" "" "" "" "" "" "0000298408" "05635" "00405911" "00774" "Familial, autosomal recessive" "00y04m" "Dysplastic nails, short stature, narrow thorax, limb shortening, bilateral hads and feet postaxial polydactyly, brachydactyly, hand-feet syndactyly, hypertrabeculature of left ventricle apex, renal anaomalies" "" "00y04m" "" "" "" "" "" "" "Jeune syndrome/Ellis-van Creveld syndrome" "Jeune syndrome/Ellis-van Creveld syndrome" "" "0000298409" "00380" "00405912" "00774" "Familial, autosomal recessive" "00y05m" "Short stature, narrow thorax, limb shortening, vertebral anomalies, pelvic abnormalities, bilateral hands and feet postaxial polydactyly, renal anomalies, situs inversus totalis" "" "00y05m" "" "" "" "" "" "" "Short rib thoracic dysplasia type 3" "Short rib thoracic dysplasia" "" "0000298451" "00603" "00405954" "00774" "Familial, autosomal recessive" "" "Dental anomalies, dysplastic nails, short stature, narrow thorax, limb shortening, bilaterals hands postaxial polydactyly, unilateral feetpostaxial polydactyly, partial atrioventricular canal defect, patent ductus arteriosus" "" "" "" "" "" "" "" "" "Ellis-van Creveld syndrome" "Ellis-van Creveld syndrome" "" "0000298453" "00380" "00405955" "00774" "Familial, autosomal recessive" "" "Short stature, narrow thorax, limb shortening, vertebral anomalies, pelvic abnormalities, hand and feet postaxial polydactyly, renal anomalies, intestinal malrotation" "" "" "" "" "" "" "" "" "Short rib thoracic dysplasia type 3" "Short rib thoracic dysplasia type 3" "" "0000298454" "00380" "00405956" "00774" "Familial, autosomal recessive" "" "Short satature, narrow thorax, limb shortening, hands and feet postaxial polydactyly, renal anomalies" "" "" "" "" "" "" "" "" "Short rib thoracic dysplasia type 3" "Short rib thoracic dysplasia" "" "0000301970" "00379" "00409854" "00774" "Familial, autosomal recessive" "02y" "Bone dysplasia with short ribs associated with some non-specific changes in the hands. The other epiphyses (lower limbs, distal radius, partially included humeral heads) do not show signs of epiphyseal dysplasia. No polydactyly." "" "" "" "" "" "" "" "" "Jeune syndrome" "Short rib thoracic dysplasia" "" "0000302078" "05635" "00409964" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "SRTD3" "short rib-polydactyly syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 131 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016450" "00016506" "1" "00638" "00638" "2014-04-28 17:31:42" "00006" "2014-05-02 17:27:30" "SEQ;SEQ-NG-I" "DNA" "blood" "" "0000058474" "00058511" "1" "01396" "01396" "2016-01-27 15:15:05" "" "" "SEQ-NG" "DNA" "DYNC2H1" "" "0000058484" "00058521" "1" "01396" "01396" "2016-01-27 17:38:50" "" "" "SEQ-NG" "DNA" "" "" "0000058485" "00058522" "1" "01396" "01396" "2016-01-27 17:46:13" "" "" "SEQ-NG" "DNA" "" "" "0000058486" "00058523" "1" "01396" "01396" "2016-01-27 17:55:51" "" "" "SEQ-NG" "DNA" "" "" "0000095514" "00095116" "1" "01586" "01586" "2017-01-06 13:16:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000132916" "00132078" "1" "01396" "01396" "2017-10-18 19:35:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000291372" "00290204" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291373" "00290205" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291374" "00290206" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304508" "00303382" "1" "00006" "00006" "2020-06-11 14:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304509" "00303383" "1" "00006" "00006" "2020-06-11 14:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304510" "00303384" "1" "00006" "00006" "2020-06-11 14:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304511" "00303385" "1" "00006" "00006" "2020-06-11 14:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304512" "00303386" "1" "00006" "00006" "2020-06-11 14:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000305408" "00304279" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332638" "00331419" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332639" "00331420" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332640" "00331421" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332641" "00331422" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360680" "00359450" "1" "01709" "00006" "2021-03-22 12:01:49" "" "" "SEQ" "DNA" "" "" "0000360681" "00359451" "1" "01709" "00006" "2021-03-22 12:01:49" "" "" "SEQ" "DNA" "" "" "0000360725" "00359495" "1" "01396" "01396" "2021-03-23 01:59:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000360726" "00359496" "1" "01396" "01396" "2021-03-23 02:05:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000360874" "00359644" "1" "00006" "00006" "2021-04-03 16:29:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000378256" "00377051" "1" "01164" "01164" "2021-06-29 15:04:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000378464" "00377259" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000380948" "00379747" "1" "03508" "03508" "2021-08-09 03:59:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000389560" "00388319" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389561" "00388320" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389562" "00388321" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389563" "00388322" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389564" "00388323" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389565" "00388324" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389566" "00388325" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389567" "00388326" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389568" "00388327" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389569" "00388328" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389570" "00388329" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389571" "00388330" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389572" "00388331" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389573" "00388332" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389574" "00388333" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389575" "00388334" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389576" "00388335" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389577" "00388336" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389578" "00388337" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389579" "00388338" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389580" "00388339" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389581" "00388340" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389582" "00388341" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389583" "00388342" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389584" "00388343" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389585" "00388344" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389586" "00388345" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389587" "00388346" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389588" "00388347" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389589" "00388348" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389590" "00388349" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389591" "00388350" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389592" "00388351" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389593" "00388352" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389594" "00388353" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389595" "00388354" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389596" "00388355" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389597" "00388356" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389598" "00388357" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389599" "00388358" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389600" "00388359" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389601" "00388360" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389602" "00388361" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389603" "00388362" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389604" "00388363" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389605" "00388364" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389606" "00388365" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389607" "00388366" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389608" "00388367" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389609" "00388368" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389610" "00388369" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389611" "00388370" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389612" "00388371" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389613" "00388372" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389614" "00388373" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389615" "00388374" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389616" "00388375" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389617" "00388376" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389618" "00388377" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389619" "00388378" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389620" "00388379" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389621" "00388380" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389622" "00388381" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389623" "00388382" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389624" "00388383" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389625" "00388384" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389626" "00388385" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389627" "00388386" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389628" "00388387" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389629" "00388388" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389630" "00388389" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389631" "00388390" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389632" "00388391" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389682" "00388441" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389683" "00388442" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389684" "00388443" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389685" "00388444" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389686" "00388445" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389687" "00388446" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389688" "00388447" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389689" "00388448" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389690" "00388449" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389691" "00388450" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389692" "00388451" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389693" "00388452" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389694" "00388453" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389695" "00388454" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389705" "00388464" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389706" "00388465" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389707" "00388466" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389708" "00388467" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000395215" "00393967" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "" "0000397964" "00396721" "1" "04116" "04116" "2021-12-17 02:18:28" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000397965" "00396722" "1" "04116" "04116" "2021-12-17 02:27:41" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000407149" "00405908" "1" "00774" "00774" "2022-03-23 12:32:33" "00006" "2022-03-28 10:40:30" "SEQ-NG" "DNA" "Peripheral blood" "" "0000407151" "00405910" "1" "00774" "00774" "2022-03-23 13:08:53" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000407152" "00405911" "1" "00774" "00774" "2022-03-23 13:31:48" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000407153" "00405912" "1" "00774" "00774" "2022-03-23 13:49:23" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000407195" "00405954" "1" "00774" "00774" "2022-03-23 15:20:21" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000407196" "00405955" "1" "00774" "00774" "2022-03-23 15:42:03" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000407197" "00405956" "1" "00774" "00774" "2022-03-23 16:02:56" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000411118" "00409854" "1" "00774" "00774" "2022-05-12 13:33:05" "" "" "SEQ-NG" "DNA" "" "" "0000411227" "00409964" "1" "00006" "00006" "2022-05-16 10:14:17" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 123 "{{screeningid}}" "{{geneid}}" "0000016450" "DYNC2H1" "0000058474" "DYNC2H1" "0000058484" "DYNC2H1" "0000058485" "DYNC2H1" "0000058486" "DYNC2H1" "0000132916" "DYNC2H1" "0000132916" "IFT80" "0000132916" "WDR34" "0000304508" "DYNC2H1" "0000304509" "DYNC2H1" "0000304510" "DYNC2H1" "0000304511" "DYNC2H1" "0000304512" "DYNC2H1" "0000332638" "DYNC2H1" "0000332639" "DYNC2H1" "0000332640" "DYNC2H1" "0000332641" "DYNC2H1" "0000360725" "DYNC2H1" "0000360726" "DYNC2H1" "0000360874" "DYNC2H1" "0000378256" "DYNC2H1" "0000378464" "DYNC2H1" "0000389560" "DYNC2H1" "0000389561" "DYNC2H1" "0000389562" "DYNC2H1" "0000389563" "DYNC2H1" "0000389564" "DYNC2H1" "0000389565" "DYNC2H1" "0000389566" "DYNC2H1" "0000389567" "DYNC2H1" "0000389568" "DYNC2H1" "0000389569" "DYNC2H1" "0000389570" "DYNC2H1" "0000389571" "DYNC2H1" "0000389572" "DYNC2H1" "0000389573" "DYNC2H1" "0000389574" "DYNC2H1" "0000389575" "DYNC2H1" "0000389576" "DYNC2H1" "0000389577" "DYNC2H1" "0000389578" "DYNC2H1" "0000389579" "DYNC2H1" "0000389580" "DYNC2H1" "0000389581" "DYNC2H1" "0000389582" "DYNC2H1" "0000389583" "DYNC2H1" "0000389584" "DYNC2H1" "0000389585" "DYNC2H1" "0000389586" "DYNC2H1" "0000389587" "DYNC2H1" "0000389588" "DYNC2H1" "0000389589" "DYNC2H1" "0000389590" "DYNC2H1" "0000389591" "DYNC2H1" "0000389592" "DYNC2H1" "0000389593" "DYNC2H1" "0000389594" "DYNC2H1" "0000389595" "DYNC2H1" "0000389596" "DYNC2H1" "0000389597" "DYNC2H1" "0000389598" "DYNC2H1" "0000389599" "DYNC2H1" "0000389600" "DYNC2H1" "0000389601" "DYNC2H1" "0000389602" "DYNC2H1" "0000389603" "DYNC2H1" "0000389604" "DYNC2H1" "0000389605" "DYNC2H1" "0000389606" "DYNC2H1" "0000389607" "DYNC2H1" "0000389608" "DYNC2H1" "0000389609" "DYNC2H1" "0000389610" "DYNC2H1" "0000389611" "DYNC2H1" "0000389612" "DYNC2H1" "0000389613" "DYNC2H1" "0000389614" "DYNC2H1" "0000389615" "DYNC2H1" "0000389616" "DYNC2H1" "0000389617" "DYNC2H1" "0000389618" "DYNC2H1" "0000389619" "DYNC2H1" "0000389620" "DYNC2H1" "0000389621" "DYNC2H1" "0000389622" "DYNC2H1" "0000389623" "DYNC2H1" "0000389624" "DYNC2H1" "0000389625" "DYNC2H1" "0000389626" "DYNC2H1" "0000389627" "DYNC2H1" "0000389628" "DYNC2H1" "0000389629" "DYNC2H1" "0000389630" "DYNC2H1" "0000389631" "DYNC2H1" "0000389632" "DYNC2H1" "0000389682" "DYNC2H1" "0000389683" "DYNC2H1" "0000389684" "DYNC2H1" "0000389685" "DYNC2H1" "0000389686" "DYNC2H1" "0000389687" "DYNC2H1" "0000389688" "DYNC2H1" "0000389689" "DYNC2H1" "0000389690" "DYNC2H1" "0000389691" "DYNC2H1" "0000389692" "DYNC2H1" "0000389693" "DYNC2H1" "0000389694" "DYNC2H1" "0000389695" "DYNC2H1" "0000389705" "DYNC2H1" "0000389706" "DYNC2H1" "0000389707" "DYNC2H1" "0000389708" "DYNC2H1" "0000395215" "DYNC2H1" "0000407149" "DYNC2H1" "0000407151" "DYNC2H1" "0000407152" "DYNC2H1" "0000407153" "DYNC2H1" "0000407195" "DYNC2H1" "0000407196" "DYNC2H1" "0000407197" "DYNC2H1" "0000411118" "DYNC2H1" "0000411227" "DYNC2H1" ## 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 = 579 "{{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}}" "0000036264" "11" "90" "11" "103019205" "103019205" "subst" "1.28049E-5" "00638" "DYNC2H1_000001" "g.103019205A>G" "" "{PMID:Ellard 2015:24961629}, {DOI:Ellard 2015:10.1038/ejhg.2014.120}" "" "" "predicted to affect splicing by creating a new splice acceptor site 13bp upstream from exon 20" "Germline" "yes" "" "0" "" "" "g.103148476A>G" "" "pathogenic (recessive)" "" "0000036265" "21" "90" "11" "103062862" "103062862" "subst" "0" "00638" "DYNC2H1_000002" "g.103062862T>G" "" "{PMID:Ellard 2015:24961629}, {DOI:Ellard 2015:10.1038/ejhg.2014.120}" "" "" "" "Germline" "yes" "" "0" "" "" "g.103192133T>G" "" "pathogenic (recessive)" "" "0000089049" "21" "70" "11" "103049947" "103049947" "subst" "4.07455E-6" "01396" "DYNC2H1_000003" "g.103049947G>A" "" "" "" "g.69788G>A" "" "Germline" "" "" "0" "" "" "g.103179218G>A" "" "likely pathogenic" "" "0000089050" "11" "70" "11" "103070129" "103070129" "subst" "8.16267E-6" "01396" "DYNC2H1_000004" "g.103070129T>C" "" "" "" "g.89970T>C" "" "Germline" "" "" "0" "" "" "g.103199400T>C" "" "likely pathogenic" "" "0000089062" "10" "70" "11" "103040970" "103040976" "del" "0" "01396" "DYNC2H1_000005" "g.103040970_103040976del" "" "" "" "5099_5105delAGGCTTT" "" "Germline" "" "" "0" "" "" "g.103170241_103170247del" "" "likely pathogenic" "" "0000089063" "21" "70" "11" "103070129" "103070129" "subst" "8.16267E-6" "01396" "DYNC2H1_000004" "g.103070129T>C" "" "" "" "g.89970T>C" "" "Germline" "" "" "0" "" "" "g.103199400T>C" "" "likely pathogenic" "" "0000089064" "21" "70" "11" "103036714" "103036714" "subst" "0" "01396" "DYNC2H1_000006" "g.103036714C>G" "" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "g.56555C>G" "ACMG PP4, PS1, PM3, PM2, BP4, PP5" "Germline" "" "" "0" "" "" "g.103165985C>G" "" "pathogenic (recessive)" "" "0000089065" "11" "70" "11" "103114425" "103114425" "subst" "0" "01396" "DYNC2H1_000008" "g.103114425C>T" "" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "g.134266C>T" "ACMG PP4, PM3, PVS1, PM2" "Germline" "" "" "0" "" "" "g.103243696C>T" "" "likely pathogenic" "ACMG" "0000089066" "1" "90" "11" "103070129" "103070129" "subst" "8.16267E-6" "01396" "DYNC2H1_000004" "g.103070129T>C" "" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "g.89970T>C" "ACMG PP4, PS1, PM2, PM1, PP5" "Germline" "" "" "0" "" "" "g.103199400T>C" "" "pathogenic (recessive)" "ACMG" "0000089067" "2" "70" "11" "103151101" "103151101" "subst" "0" "01396" "DYNC2H1_000007" "g.103151101C>T" "" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "g.170942C>T" "ACMG PP4, PM3, PM2" "Germline" "" "" "0" "" "" "g.103280372C>T" "" "likely pathogenic (recessive)" "ACMG" "0000154082" "21" "70" "11" "103114423" "103114423" "subst" "0" "01586" "DYNC2H1_000010" "g.103114423G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.103243694G>A" "" "likely pathogenic" "" "0000154083" "11" "70" "11" "103040955" "103040955" "subst" "2.05352E-5" "01586" "DYNC2H1_000009" "g.103040955C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.103170226C>T" "" "likely pathogenic" "" "0000222102" "10" "70" "11" "103059260" "103059260" "subst" "0" "01396" "DYNC2H1_000011" "g.103059260T>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.103188531T>G" "" "likely pathogenic" "" "0000222103" "21" "70" "11" "103175379" "103175379" "subst" "2.4419E-5" "01396" "DYNC2H1_000012" "g.103175379C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.103304650C>T" "" "likely pathogenic" "" "0000247965" "0" "10" "11" "103057048" "103057048" "subst" "0.626307" "02325" "DYNC2H1_000060" "g.103057048A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.6711A>G (p.R2237=), DYNC2H1(NM_001080463.2):c.6711A>G (p.R2237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103186319A>G" "" "benign" "" "0000247966" "0" "10" "11" "103082558" "103082558" "subst" "0.122972" "02325" "DYNC2H1_000063" "g.103082558A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.8580A>G (p.E2860=), DYNC2H1(NM_001080463.2):c.8580A>G (p.E2860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103211829A>G" "" "benign" "" "0000247988" "0" "10" "11" "103029516" "103029516" "subst" "0.739352" "02325" "DYNC2H1_000047" "g.103029516A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.4238A>G (p.K1413R), DYNC2H1(NM_001080463.2):c.4238A>G (p.K1413R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103158787A>G" "" "benign" "" "0000248003" "0" "10" "11" "102988504" "102988504" "subst" "0.0492284" "02325" "DYNC2H1_000018" "g.102988504A>T" "" "" "" "DYNC2H1(NM_001080463.1):c.911A>T (p.Q304L), DYNC2H1(NM_001080463.2):c.911A>T (p.Q304L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103117775A>T" "" "benign" "" "0000248008" "0" "10" "11" "103027234" "103027234" "subst" "0.105673" "02325" "DYNC2H1_000044" "g.103027234A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.3862A>G (p.T1288A), DYNC2H1(NM_001080463.2):c.3862A>G (p.T1288A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103156505A>G" "" "benign" "" "0000253226" "0" "10" "11" "103057048" "103057048" "subst" "0.626307" "01943" "DYNC2H1_000060" "g.103057048A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.6711A>G (p.R2237=), DYNC2H1(NM_001080463.2):c.6711A>G (p.R2237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103186319A>G" "" "benign" "" "0000253227" "0" "10" "11" "103082558" "103082558" "subst" "0.122972" "01943" "DYNC2H1_000063" "g.103082558A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.8580A>G (p.E2860=), DYNC2H1(NM_001080463.2):c.8580A>G (p.E2860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103211829A>G" "" "benign" "" "0000253249" "0" "10" "11" "103029516" "103029516" "subst" "0.739352" "01943" "DYNC2H1_000047" "g.103029516A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.4238A>G (p.K1413R), DYNC2H1(NM_001080463.2):c.4238A>G (p.K1413R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103158787A>G" "" "benign" "" "0000253264" "0" "10" "11" "102988504" "102988504" "subst" "0.0492284" "01943" "DYNC2H1_000018" "g.102988504A>T" "" "" "" "DYNC2H1(NM_001080463.1):c.911A>T (p.Q304L), DYNC2H1(NM_001080463.2):c.911A>T (p.Q304L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103117775A>T" "" "benign" "" "0000253269" "0" "10" "11" "103027234" "103027234" "subst" "0.105673" "01943" "DYNC2H1_000044" "g.103027234A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.3862A>G (p.T1288A), DYNC2H1(NM_001080463.2):c.3862A>G (p.T1288A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103156505A>G" "" "benign" "" "0000253460" "0" "10" "11" "103126969" "103126969" "subst" "0.00355182" "01943" "DYNC2H1_000075" "g.103126969A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.10482A>G (p.Q3494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103256240A>G" "" "benign" "" "0000253844" "0" "10" "11" "103044038" "103044038" "subst" "0.114813" "01943" "DYNC2H1_000051" "g.103044038A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.5558+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103173309A>G" "" "benign" "" "0000253845" "0" "10" "11" "103052629" "103052629" "subst" "0.0011346" "01943" "DYNC2H1_000057" "g.103052629A>T" "" "" "" "DYNC2H1(NM_001080463.1):c.6477+14A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103181900A>T" "" "benign" "" "0000254913" "0" "30" "11" "102991516" "102991516" "subst" "0.0160426" "01943" "DYNC2H1_000022" "g.102991516A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.1233A>G (p.Q411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103120787A>G" "" "likely benign" "" "0000255071" "0" "30" "11" "103080631" "103080631" "subst" "0.000715629" "01943" "DYNC2H1_000130" "g.103080631A>C" "" "" "" "DYNC2H1(NM_001080463.1):c.8481A>C (p.T2827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103209902A>C" "" "likely benign" "" "0000255866" "0" "50" "11" "103027118" "103027118" "subst" "6.16908E-5" "01943" "DYNC2H1_000042" "g.103027118A>T" "" "" "" "DYNC2H1(NM_001080463.1):c.3746A>T (p.D1249V, p.(Asp1249Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103156389A>T" "" "VUS" "" "0000256709" "0" "50" "11" "103270608" "103270608" "subst" "0.00159096" "01943" "DYNC2H1_000090" "g.103270608A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.12387+8A>G, DYNC2H1(NM_001377.2):c.12366+8A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103399880A>G" "" "VUS" "" "0000267725" "0" "10" "11" "103123999" "103123999" "subst" "0.362705" "02325" "DYNC2H1_000072" "g.103123999G>T" "" "" "" "DYNC2H1(NM_001080463.1):c.10064-15G>T, DYNC2H1(NM_001080463.2):c.10064-15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103253270G>T" "" "benign" "" "0000267726" "0" "10" "11" "103124135" "103124135" "subst" "0.128513" "02325" "DYNC2H1_000073" "g.103124135T>G" "" "" "" "DYNC2H1(NM_001080463.1):c.10185T>G (p.T3395=), DYNC2H1(NM_001080463.2):c.10185T>G (p.T3395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103253406T>G" "" "benign" "" "0000267727" "0" "10" "11" "102991197" "102991197" "subst" "0.103646" "02325" "DYNC2H1_000020" "g.102991197C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.1021C>T (p.H341Y), DYNC2H1(NM_001080463.2):c.1021C>T (p.H341Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103120468C>T" "" "benign" "" "0000267728" "0" "10" "11" "103152919" "103152919" "subst" "0.128068" "02325" "DYNC2H1_000077" "g.103152919G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.10794G>A (p.T3598=), DYNC2H1(NM_001080463.2):c.10794G>A (p.T3598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103282190G>A" "" "benign" "" "0000267729" "0" "10" "11" "103229027" "103229027" "subst" "0.618939" "02325" "DYNC2H1_000088" "g.103229027T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.12117T>C (p.D4039=), DYNC2H1(NM_001080463.2):c.12117T>C (p.D4039=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103358299T>C" "" "benign" "" "0000267730" "0" "10" "11" "103270607" "103270607" "subst" "0.48966" "02325" "DYNC2H1_000089" "g.103270607G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.12387+7G>A, DYNC2H1(NM_001080463.2):c.12387+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103399879G>A" "" "benign" "" "0000267731" "0" "10" "11" "103325908" "103325908" "subst" "0.0772585" "02325" "DYNC2H1_000091" "g.103325908C>T" "" "" "" "DYNC2H1():g.103325908C>T, DYNC2H1(NM_001080463.1):c.12478-6C>T, DYNC2H1(NM_001080463.2):c.12478-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103455180C>T" "" "benign" "" "0000267732" "0" "10" "11" "103022855" "103022855" "dup" "0" "02325" "DYNC2H1_000036" "g.103022855dup" "" "" "" "DYNC2H1(NM_001080463.2):c.2947-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103152126dup" "" "benign" "" "0000267733" "0" "10" "11" "103026052" "103026052" "del" "0" "02325" "DYNC2H1_000038" "g.103026052del" "" "" "" "DYNC2H1(NM_001080463.1):c.3574-19delT (p.(=)), DYNC2H1(NM_001080463.1):c.3574-8delT, DYNC2H1(NM_001080463.2):c.3574-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103155323del" "" "benign" "" "0000267734" "0" "10" "11" "103047007" "103047007" "subst" "0.925859" "02325" "DYNC2H1_000054" "g.103047007C>A" "" "" "" "DYNC2H1(NM_001080463.1):c.5718C>A (p.T1906=), DYNC2H1(NM_001080463.2):c.5718C>A (p.T1906=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103176278C>A" "" "benign" "" "0000267735" "0" "10" "11" "103058126" "103058126" "subst" "0.636783" "02325" "DYNC2H1_000061" "g.103058126C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.6951C>T (p.H2317=), DYNC2H1(NM_001080463.2):c.6951C>T (p.H2317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103187397C>T" "" "benign" "" "0000267736" "0" "10" "11" "103082590" "103082590" "subst" "0.793588" "02325" "DYNC2H1_000064" "g.103082590G>A" "" "" "" "DYNC2H1():g.103082590G>A, DYNC2H1(NM_001080463.1):c.8612G>A (p.R2871Q), DYNC2H1(NM_001080463.2):c.8612G>A (p.R2871Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103211861G>A" "" "benign" "" "0000271044" "0" "10" "11" "103182601" "103182601" "subst" "4.35328E-6" "02326" "DYNC2H1_000084" "g.103182601T>C" "" "" "" "DYNC2H1(NM_001080463.2):c.11515-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103311872T>C" "" "benign" "" "0000271045" "0" "10" "11" "103018629" "103018629" "subst" "0.0232592" "02326" "DYNC2H1_000032" "g.103018629T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.2818+13T>C, DYNC2H1(NM_001080463.2):c.2818+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103147900T>C" "" "benign" "" "0000271046" "0" "30" "11" "103036743" "103036743" "subst" "0.0210799" "02326" "DYNC2H1_000049" "g.103036743C>G" "" "" "" "DYNC2H1(NM_001080463.1):c.4728C>G (p.N1576K, p.(Asn1576Lys)), DYNC2H1(NM_001080463.2):c.4728C>G (p.N1576K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103166014C>G" "" "likely benign" "" "0000275836" "0" "10" "11" "103123999" "103123999" "subst" "0.362705" "01943" "DYNC2H1_000072" "g.103123999G>T" "" "" "" "DYNC2H1(NM_001080463.1):c.10064-15G>T, DYNC2H1(NM_001080463.2):c.10064-15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103253270G>T" "" "benign" "" "0000275837" "0" "10" "11" "103124135" "103124135" "subst" "0.128513" "01943" "DYNC2H1_000073" "g.103124135T>G" "" "" "" "DYNC2H1(NM_001080463.1):c.10185T>G (p.T3395=), DYNC2H1(NM_001080463.2):c.10185T>G (p.T3395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103253406T>G" "" "benign" "" "0000275838" "0" "10" "11" "102991197" "102991197" "subst" "0.103646" "01943" "DYNC2H1_000020" "g.102991197C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.1021C>T (p.H341Y), DYNC2H1(NM_001080463.2):c.1021C>T (p.H341Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103120468C>T" "" "benign" "" "0000275839" "0" "70" "11" "103126263" "103126263" "subst" "0" "01943" "DYNC2H1_000074" "g.103126263G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.10347G>A (p.E3449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103255534G>A" "" "likely pathogenic" "" "0000275840" "0" "10" "11" "103128354" "103128354" "subst" "0.00311226" "01943" "DYNC2H1_000076" "g.103128354C>G" "" "" "" "DYNC2H1(NM_001080463.1):c.10500C>G (p.L3500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103257625C>G" "" "benign" "" "0000275841" "0" "10" "11" "103152919" "103152919" "subst" "0.128068" "01943" "DYNC2H1_000077" "g.103152919G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.10794G>A (p.T3598=), DYNC2H1(NM_001080463.2):c.10794G>A (p.T3598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103282190G>A" "" "benign" "" "0000275842" "0" "10" "11" "103153788" "103153788" "subst" "0.00704879" "01943" "DYNC2H1_000079" "g.103153788C>A" "" "" "" "DYNC2H1(NM_001080463.1):c.10885C>A (p.R3629=), DYNC2H1(NM_001080463.2):c.10885C>A (p.R3629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103283059C>A" "" "benign" "" "0000275843" "0" "30" "11" "103156977" "103156977" "subst" "4.09239E-6" "01943" "DYNC2H1_000080" "g.103156977T>G" "" "" "" "DYNC2H1(NM_001080463.1):c.10912-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103286248T>G" "" "likely benign" "" "0000275844" "0" "10" "11" "103174000" "103174000" "subst" "0.171375" "01943" "DYNC2H1_000082" "g.103174000C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.11277+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103303271C>T" "" "benign" "" "0000275845" "0" "10" "11" "103182774" "103182774" "subst" "0.165632" "01943" "DYNC2H1_000085" "g.103182774C>A" "" "" "" "DYNC2H1(NM_001080463.1):c.11670+12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103312045C>A" "" "benign" "" "0000275846" "0" "10" "11" "103229027" "103229027" "subst" "0.618939" "01943" "DYNC2H1_000088" "g.103229027T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.12117T>C (p.D4039=), DYNC2H1(NM_001080463.2):c.12117T>C (p.D4039=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103358299T>C" "" "benign" "" "0000275847" "0" "10" "11" "103270607" "103270607" "subst" "0.48966" "01943" "DYNC2H1_000089" "g.103270607G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.12387+7G>A, DYNC2H1(NM_001080463.2):c.12387+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103399879G>A" "" "benign" "" "0000275848" "0" "10" "11" "103325908" "103325908" "subst" "0.0772585" "01943" "DYNC2H1_000091" "g.103325908C>T" "" "" "" "DYNC2H1():g.103325908C>T, DYNC2H1(NM_001080463.1):c.12478-6C>T, DYNC2H1(NM_001080463.2):c.12478-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103455180C>T" "" "benign" "" "0000275849" "0" "50" "11" "103326007" "103326007" "subst" "1.62707E-5" "01943" "DYNC2H1_000092" "g.103326007C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.12571C>T (p.R4191C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103455279C>T" "" "VUS" "" "0000275850" "0" "30" "11" "102991668" "102991668" "subst" "0.00332149" "01943" "DYNC2H1_000023" "g.102991668C>A" "" "" "" "DYNC2H1(NM_001080463.1):c.1263C>A (p.F421L), DYNC2H1(NM_001377.2):c.1263C>A (p.(Phe421Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103120939C>A" "" "likely benign" "" "0000275851" "0" "90" "11" "103327055" "103327055" "subst" "0" "01943" "DYNC2H1_000093" "g.103327055C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.12640C>T (p.R4214*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103456327C>T" "" "pathogenic" "" "0000275852" "0" "50" "11" "103349922" "103349922" "subst" "0.0127116" "01943" "DYNC2H1_000095" "g.103349922G>C" "" "" "" "DYNC2H1(NM_001080463.1):c.12886G>C (p.G4296R, p.(Gly4296Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103479194G>C" "" "VUS" "" "0000275853" "0" "70" "11" "102991693" "102991693" "subst" "0.000217663" "01943" "DYNC2H1_000024" "g.102991693C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.1288C>T (p.R430C), DYNC2H1(NM_001080463.2):c.1288C>T (p.R430C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103120964C>T" "" "likely pathogenic" "" "0000275854" "0" "10" "11" "102992107" "102992107" "subst" "0.00564566" "01943" "DYNC2H1_000025" "g.102992107G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.1367G>A (p.R456Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103121378G>A" "" "benign" "" "0000275855" "0" "10" "11" "102980324" "102980324" "subst" "0.0739058" "01943" "DYNC2H1_000013" "g.102980324C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.21C>T (p.D7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103109595C>T" "" "benign" "" "0000275856" "0" "10" "11" "103018629" "103018629" "subst" "0.0232592" "01943" "DYNC2H1_000032" "g.103018629T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.2818+13T>C, DYNC2H1(NM_001080463.2):c.2818+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103147900T>C" "" "benign" "" "0000275857" "0" "90" "11" "102984397" "102984397" "subst" "1.43332E-5" "01943" "DYNC2H1_000015" "g.102984397C>G" "" "" "" "DYNC2H1(NM_001080463.1):c.327C>G (p.Y109*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103113668C>G" "" "pathogenic" "" "0000275858" "0" "10" "11" "103026052" "103026052" "del" "0" "01943" "DYNC2H1_000038" "g.103026052del" "" "" "" "DYNC2H1(NM_001080463.1):c.3574-19delT (p.(=)), DYNC2H1(NM_001080463.1):c.3574-8delT, DYNC2H1(NM_001080463.2):c.3574-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103155323del" "" "benign" "" "0000275859" "0" "30" "11" "103026146" "103026146" "subst" "0.0164957" "01943" "DYNC2H1_000039" "g.103026146T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.3660T>C (p.P1220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103155417T>C" "" "likely benign" "" "0000275860" "0" "50" "11" "103026168" "103026168" "subst" "0.00159255" "01943" "DYNC2H1_000041" "g.103026168C>A" "" "" "" "DYNC2H1(NM_001080463.1):c.3682C>A (p.L1228I, p.(Leu1228Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103155439C>A" "" "VUS" "" "0000275861" "0" "10" "11" "103027440" "103027440" "subst" "0.00445591" "01943" "DYNC2H1_000046" "g.103027440C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.4068C>T (p.F1356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103156711C>T" "" "benign" "" "0000275862" "0" "30" "11" "103029690" "103029690" "subst" "0.000484851" "01943" "DYNC2H1_000048" "g.103029690T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.4312T>C (p.L1438=), DYNC2H1(NM_001080463.2):c.4312T>C (p.L1438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103158961T>C" "" "likely benign" "" "0000275863" "0" "30" "11" "103036743" "103036743" "subst" "0.0210799" "01943" "DYNC2H1_000049" "g.103036743C>G" "" "" "" "DYNC2H1(NM_001080463.1):c.4728C>G (p.N1576K, p.(Asn1576Lys)), DYNC2H1(NM_001080463.2):c.4728C>G (p.N1576K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103166014C>G" "" "likely benign" "" "0000275864" "0" "30" "11" "103043987" "103043987" "subst" "0.000286578" "01943" "DYNC2H1_000050" "g.103043987C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.5511C>T (p.D1837=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103173258C>T" "" "likely benign" "" "0000275865" "0" "50" "11" "102985956" "102985956" "subst" "0" "01943" "DYNC2H1_000017" "g.102985956C>G" "" "" "" "DYNC2H1(NM_001080463.1):c.553C>G (p.R185G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103115227C>G" "" "VUS" "" "0000275866" "0" "10" "11" "103044778" "103044778" "subst" "0.000203111" "01943" "DYNC2H1_000052" "g.103044778T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.5559-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103174049T>C" "" "benign" "" "0000275867" "0" "10" "11" "103047007" "103047007" "subst" "0.925859" "01943" "DYNC2H1_000054" "g.103047007C>A" "" "" "" "DYNC2H1(NM_001080463.1):c.5718C>A (p.T1906=), DYNC2H1(NM_001080463.2):c.5718C>A (p.T1906=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103176278C>A" "" "benign" "" "0000275868" "0" "10" "11" "103052558" "103052558" "subst" "0.115427" "01943" "DYNC2H1_000056" "g.103052558T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.6420T>C (p.N2140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103181829T>C" "" "benign" "" "0000275869" "0" "10" "11" "103055608" "103055608" "subst" "0.00330936" "01943" "DYNC2H1_000058" "g.103055608C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.6478-17C>T, DYNC2H1(NM_001080463.2):c.6478-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103184879C>T" "" "benign" "" "0000275870" "0" "10" "11" "103055619" "103055619" "subst" "0.00256622" "01943" "DYNC2H1_000059" "g.103055619C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.6478-6C>T, DYNC2H1(NM_001377.2):c.6478-6C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103184890C>T" "" "benign" "" "0000275871" "0" "10" "11" "103058126" "103058126" "subst" "0.636783" "01943" "DYNC2H1_000061" "g.103058126C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.6951C>T (p.H2317=), DYNC2H1(NM_001080463.2):c.6951C>T (p.H2317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103187397C>T" "" "benign" "" "0000275872" "0" "10" "11" "103062362" "103062362" "subst" "0" "01943" "DYNC2H1_000062" "g.103062362G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.7540+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103191633G>A" "" "benign" "" "0000275873" "0" "10" "11" "103082590" "103082590" "subst" "0.793588" "01943" "DYNC2H1_000064" "g.103082590G>A" "" "" "" "DYNC2H1():g.103082590G>A, DYNC2H1(NM_001080463.1):c.8612G>A (p.R2871Q), DYNC2H1(NM_001080463.2):c.8612G>A (p.R2871Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103211861G>A" "" "benign" "" "0000275874" "0" "50" "11" "102988506" "102988506" "subst" "0.000113812" "01943" "DYNC2H1_000019" "g.102988506G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.913G>A (p.V305M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103117777G>A" "" "VUS" "" "0000275875" "0" "10" "11" "103093822" "103093822" "subst" "0.00755956" "01943" "DYNC2H1_000069" "g.103093822G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.9353+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103223093G>A" "" "benign" "" "0000275876" "0" "50" "11" "103114467" "103114467" "subst" "0.000664713" "01943" "DYNC2H1_000071" "g.103114467G>C" "" "" "" "DYNC2H1(NM_001080463.1):c.9886G>C (p.E3296Q, p.(Glu3296Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103243738G>C" "" "VUS" "" "0000322462" "0" "30" "11" "102980505" "102980505" "subst" "0.010468" "01804" "DYNC2H1_000014" "g.102980505T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.195+7T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103109776T>C" "" "likely benign" "" "0000322463" "0" "50" "11" "102984857" "102984857" "subst" "0" "01804" "DYNC2H1_000016" "g.102984857A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.392A>G (p.(Asp131Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103114128A>G" "" "VUS" "" "0000322464" "0" "50" "11" "102991440" "102991440" "subst" "0.000156798" "01804" "DYNC2H1_000021" "g.102991440C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.1157C>T (p.(Ser386Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103120711C>T" "" "VUS" "" "0000322465" "0" "50" "11" "102992208" "102992208" "subst" "8.16273E-6" "01804" "DYNC2H1_000026" "g.102992208C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.1468C>T (p.(Arg490Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103121479C>T" "" "VUS" "" "0000322466" "0" "50" "11" "102995996" "102995996" "subst" "0" "01804" "DYNC2H1_000028" "g.102995996T>G" "" "" "" "DYNC2H1(NM_001080463.1):c.1829T>G (p.(Phe610Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103125267T>G" "" "VUS" "" "0000322468" "0" "50" "11" "103014003" "103014003" "subst" "0" "01804" "DYNC2H1_000031" "g.103014003A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.2581A>G (p.(Ile861Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103143274A>G" "" "VUS" "" "0000322469" "0" "30" "11" "103019260" "103019260" "subst" "0.0162462" "01804" "DYNC2H1_000033" "g.103019260G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.2860G>A (p.(Glu954Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103148531G>A" "" "likely benign" "" "0000322470" "0" "50" "11" "103019335" "103019335" "subst" "0.000212754" "01804" "DYNC2H1_000034" "g.103019335C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.2935C>T (p.(Arg979Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103148606C>T" "" "VUS" "" "0000322472" "0" "30" "11" "103019336" "103019336" "subst" "0" "01804" "DYNC2H1_000035" "g.103019336G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.2936G>A (p.(Arg979Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103148607G>A" "" "likely benign" "" "0000322473" "0" "50" "11" "103022890" "103022890" "subst" "4.11248E-6" "01804" "DYNC2H1_000037" "g.103022890A>C" "" "" "" "DYNC2H1(NM_001080463.1):c.2972A>C (p.(Glu991Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103152161A>C" "" "VUS" "" "0000322474" "0" "50" "11" "103026151" "103026151" "subst" "0.000318419" "01804" "DYNC2H1_000040" "g.103026151G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.3665G>A (p.G1222E, p.(Gly1222Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103155422G>A" "" "VUS" "" "0000322476" "0" "50" "11" "103027292" "103027292" "subst" "8.13365E-6" "01804" "DYNC2H1_000045" "g.103027292G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.3920G>A (p.(Cys1307Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103156563G>A" "" "VUS" "" "0000322477" "0" "50" "11" "103046984" "103046984" "subst" "0.000892558" "01804" "DYNC2H1_000053" "g.103046984G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.5695G>A (p.V1899I, p.(Val1899Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103176255G>A" "" "VUS" "" "0000322479" "0" "50" "11" "103086481" "103086481" "subst" "0" "01804" "DYNC2H1_000065" "g.103086481C>G" "" "" "" "DYNC2H1(NM_001080463.1):c.8726C>G (p.(Ala2909Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103215752C>G" "" "VUS" "" "0000322480" "0" "30" "11" "103086522" "103086522" "subst" "1.64306E-5" "01804" "DYNC2H1_000066" "g.103086522G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.8767G>A (p.(Val2923Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103215793G>A" "" "likely benign" "" "0000322481" "0" "30" "11" "103090692" "103090692" "subst" "0.00231308" "01804" "DYNC2H1_000067" "g.103090692G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.8881G>A (p.A2961T, p.(Ala2961Thr)), DYNC2H1(NM_001080463.2):c.8881G>A (p.A2961T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103219963G>A" "" "likely benign" "" "0000322482" "0" "90" "11" "103091449" "103091449" "subst" "0.000256554" "01804" "DYNC2H1_000068" "g.103091449A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.9044A>G (p.(Asp3015Gly)), DYNC2H1(NM_001080463.2):c.9044A>G (p.D3015G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103220720A>G" "" "pathogenic" "" "0000322485" "0" "50" "11" "103173911" "103173911" "subst" "0.000195384" "01804" "DYNC2H1_000081" "g.103173911C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.11206C>T (p.(Pro3736Ser)), DYNC2H1(NM_001080463.2):c.11206C>T (p.P3736S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103303182C>T" "" "VUS" "" "0000322486" "0" "50" "11" "103175354" "103175354" "subst" "5.29614E-5" "01804" "DYNC2H1_000083" "g.103175354G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.11308G>A (p.(Ala3770Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103304625G>A" "" "VUS" "" "0000322487" "0" "50" "11" "103194620" "103194620" "subst" "8.14286E-6" "01804" "DYNC2H1_000086" "g.103194620C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.11962C>T (p.(Arg3988Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103323892C>T" "" "VUS" "" "0000322488" "0" "50" "11" "103228971" "103228971" "subst" "0.000135833" "01804" "DYNC2H1_000087" "g.103228971G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.12061G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103358243G>A" "" "VUS" "" "0000322489" "0" "50" "11" "103339392" "103339392" "subst" "1.22007E-5" "01804" "DYNC2H1_000094" "g.103339392G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.12745G>A (p.(Val4249Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103468664G>A" "" "VUS" "" "0000336855" "0" "10" "11" "103325908" "103325908" "subst" "0.0772585" "02327" "DYNC2H1_000091" "g.103325908C>T" "" "" "" "DYNC2H1():g.103325908C>T, DYNC2H1(NM_001080463.1):c.12478-6C>T, DYNC2H1(NM_001080463.2):c.12478-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103455180C>T" "" "benign" "" "0000336903" "0" "10" "11" "103018629" "103018629" "subst" "0" "02327" "DYNC2H1_000101" "g.103018629T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103147900T>G" "" "benign" "" "0000336904" "0" "90" "11" "103025423" "103025423" "subst" "0" "02327" "DYNC2H1_000103" "g.103025423G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103154694G>A" "" "pathogenic" "" "0000336906" "0" "10" "11" "103026146" "103026146" "subst" "0.0164957" "02327" "DYNC2H1_000039" "g.103026146T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.3660T>C (p.P1220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103155417T>C" "" "benign" "" "0000336907" "0" "10" "11" "103039707" "103039707" "subst" "0.00941087" "02327" "DYNC2H1_000105" "g.103039707G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.4968+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103168978G>A" "" "benign" "" "0000336908" "0" "10" "11" "103044038" "103044038" "subst" "0.114813" "02327" "DYNC2H1_000051" "g.103044038A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.5558+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103173309A>G" "" "benign" "" "0000336911" "0" "50" "11" "103075696" "103075696" "subst" "0" "02327" "DYNC2H1_000116" "g.103075696A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103204967A>C" "" "VUS" "" "0000336912" "0" "10" "11" "103123999" "103123999" "subst" "0.362705" "02327" "DYNC2H1_000072" "g.103123999G>T" "" "" "" "DYNC2H1(NM_001080463.1):c.10064-15G>T, DYNC2H1(NM_001080463.2):c.10064-15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103253270G>T" "" "benign" "" "0000336914" "0" "10" "11" "103174000" "103174000" "subst" "0.171375" "02327" "DYNC2H1_000082" "g.103174000C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.11277+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103303271C>T" "" "benign" "" "0000336916" "0" "10" "11" "103270607" "103270607" "subst" "0.48966" "02327" "DYNC2H1_000089" "g.103270607G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.12387+7G>A, DYNC2H1(NM_001080463.2):c.12387+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103399879G>A" "" "benign" "" "0000336918" "0" "10" "11" "103326040" "103326040" "subst" "0.00190602" "02327" "DYNC2H1_000128" "g.103326040A>G" "" "" "" "DYNC2H1(NM_001080463.2):c.12587+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103455312A>G" "" "benign" "" "0000339228" "0" "10" "11" "102980324" "102980324" "subst" "0.0739058" "02327" "DYNC2H1_000013" "g.102980324C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.21C>T (p.D7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103109595C>T" "" "benign" "" "0000339229" "0" "10" "11" "102991516" "102991516" "subst" "0.0160426" "02327" "DYNC2H1_000022" "g.102991516A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.1233A>G (p.Q411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103120787A>G" "" "benign" "" "0000339230" "0" "10" "11" "103047007" "103047007" "subst" "0.925859" "02327" "DYNC2H1_000054" "g.103047007C>A" "" "" "" "DYNC2H1(NM_001080463.1):c.5718C>A (p.T1906=), DYNC2H1(NM_001080463.2):c.5718C>A (p.T1906=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103176278C>A" "" "benign" "" "0000339231" "0" "10" "11" "103052558" "103052558" "subst" "0.115427" "02327" "DYNC2H1_000056" "g.103052558T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.6420T>C (p.N2140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103181829T>C" "" "benign" "" "0000339232" "0" "10" "11" "103057048" "103057048" "subst" "0.626307" "02327" "DYNC2H1_000060" "g.103057048A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.6711A>G (p.R2237=), DYNC2H1(NM_001080463.2):c.6711A>G (p.R2237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103186319A>G" "" "benign" "" "0000339233" "0" "10" "11" "103058126" "103058126" "subst" "0.636783" "02327" "DYNC2H1_000061" "g.103058126C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.6951C>T (p.H2317=), DYNC2H1(NM_001080463.2):c.6951C>T (p.H2317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103187397C>T" "" "benign" "" "0000339234" "0" "10" "11" "103082558" "103082558" "subst" "0.122972" "02327" "DYNC2H1_000063" "g.103082558A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.8580A>G (p.E2860=), DYNC2H1(NM_001080463.2):c.8580A>G (p.E2860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103211829A>G" "" "benign" "" "0000339235" "0" "10" "11" "103124135" "103124135" "subst" "0.128513" "02327" "DYNC2H1_000073" "g.103124135T>G" "" "" "" "DYNC2H1(NM_001080463.1):c.10185T>G (p.T3395=), DYNC2H1(NM_001080463.2):c.10185T>G (p.T3395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103253406T>G" "" "benign" "" "0000339236" "0" "10" "11" "103152919" "103152919" "subst" "0.128068" "02327" "DYNC2H1_000077" "g.103152919G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.10794G>A (p.T3598=), DYNC2H1(NM_001080463.2):c.10794G>A (p.T3598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103282190G>A" "" "benign" "" "0000339237" "0" "90" "11" "103158288" "103158288" "subst" "0" "02327" "DYNC2H1_000125" "g.103158288G>A" "" "" "" "DYNC2H1(NM_001377.3):c.11049G>A (p.(Pro3683=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103287559G>A" "" "pathogenic" "" "0000339238" "0" "10" "11" "103182774" "103182774" "subst" "0.165632" "02327" "DYNC2H1_000085" "g.103182774C>A" "" "" "" "DYNC2H1(NM_001080463.1):c.11670+12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103312045C>A" "" "benign" "" "0000339239" "0" "10" "11" "103229027" "103229027" "subst" "0.618939" "02327" "DYNC2H1_000088" "g.103229027T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.12117T>C (p.D4039=), DYNC2H1(NM_001080463.2):c.12117T>C (p.D4039=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103358299T>C" "" "benign" "" "0000340677" "0" "30" "11" "103062249" "103062249" "subst" "0" "02327" "DYNC2H1_000111" "g.103062249C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103191520C>A" "" "likely benign" "" "0000341403" "0" "10" "11" "103158278" "103158278" "subst" "0.319032" "02327" "DYNC2H1_000124" "g.103158278C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.11060C>T (p.A3687V), DYNC2H1(NM_001080463.2):c.11060C>T (p.A3687V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103287549C>T" "" "benign" "" "0000341418" "0" "90" "11" "102991434" "102991434" "subst" "2.46847E-5" "02327" "DYNC2H1_000098" "g.102991434C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103120705C>T" "" "pathogenic" "" "0000342332" "0" "90" "11" "103058148" "103058148" "subst" "4.0707E-6" "02327" "DYNC2H1_000109" "g.103058148C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103187419C>T" "" "pathogenic" "" "0000342476" "0" "70" "11" "103070102" "103070102" "subst" "1.22269E-5" "02327" "DYNC2H1_000114" "g.103070102G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103199373G>A" "" "likely pathogenic" "" "0000342536" "0" "10" "11" "103082590" "103082590" "subst" "0.793588" "02327" "DYNC2H1_000064" "g.103082590G>A" "" "" "" "DYNC2H1():g.103082590G>A, DYNC2H1(NM_001080463.1):c.8612G>A (p.R2871Q), DYNC2H1(NM_001080463.2):c.8612G>A (p.R2871Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103211861G>A" "" "benign" "" "0000342604" "0" "90" "11" "103093775" "103093775" "subst" "4.07804E-6" "02327" "DYNC2H1_000118" "g.103093775C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103223046C>T" "" "pathogenic" "" "0000342711" "0" "90" "11" "103128448" "103128448" "subst" "6.84071E-5" "02327" "DYNC2H1_000123" "g.103128448C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103257719C>T" "" "pathogenic" "" "0000342872" "0" "30" "11" "103327013" "103327013" "subst" "0" "02327" "DYNC2H1_000129" "g.103327013C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103456285C>T" "" "likely benign" "" "0000343542" "0" "50" "11" "103022911" "103022911" "subst" "2.05197E-5" "02327" "DYNC2H1_000102" "g.103022911G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103152182G>A" "" "VUS" "" "0000343613" "0" "10" "11" "103036743" "103036743" "subst" "0.0210799" "02327" "DYNC2H1_000049" "g.103036743C>G" "" "" "" "DYNC2H1(NM_001080463.1):c.4728C>G (p.N1576K, p.(Asn1576Lys)), DYNC2H1(NM_001080463.2):c.4728C>G (p.N1576K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103166014C>G" "" "benign" "" "0000343652" "0" "50" "11" "103055627" "103055627" "subst" "3.67299E-5" "02327" "DYNC2H1_000107" "g.103055627T>A" "" "" "" "DYNC2H1(NM_001377.3):c.6480T>A (p.(Asn2160Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103184898T>A" "" "VUS" "" "0000343998" "0" "50" "11" "103057020" "103057020" "subst" "0" "02327" "DYNC2H1_000108" "g.103057020A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103186291A>G" "" "VUS" "" "0000344768" "0" "90" "11" "103107266" "103107266" "subst" "4.36952E-6" "02327" "DYNC2H1_000122" "g.103107266C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103236537C>T" "" "pathogenic" "" "0000345599" "0" "10" "11" "103019260" "103019260" "subst" "0.0162462" "02327" "DYNC2H1_000033" "g.103019260G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.2860G>A (p.(Glu954Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103148531G>A" "" "benign" "" "0000345903" "0" "70" "11" "103060490" "103060490" "subst" "0" "02327" "DYNC2H1_000110" "g.103060490G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103189761G>T" "" "likely pathogenic" "" "0000346456" "0" "10" "11" "102991197" "102991197" "subst" "0.103646" "02327" "DYNC2H1_000020" "g.102991197C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.1021C>T (p.H341Y), DYNC2H1(NM_001080463.2):c.1021C>T (p.H341Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103120468C>T" "" "benign" "" "0000346861" "0" "90" "11" "103025474" "103025474" "subst" "1.07127E-5" "02327" "DYNC2H1_000104" "g.103025474T>G" "" "" "" "DYNC2H1(NM_001377.3):c.3509T>G (p.(Leu1170*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103154745T>G" "" "pathogenic" "" "0000346868" "0" "50" "11" "103026168" "103026168" "subst" "0.00159255" "02327" "DYNC2H1_000041" "g.103026168C>A" "" "" "" "DYNC2H1(NM_001080463.1):c.3682C>A (p.L1228I, p.(Leu1228Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103155439C>A" "" "VUS" "" "0000347243" "0" "50" "11" "102995941" "102995941" "subst" "0.000301676" "02327" "DYNC2H1_000100" "g.102995941C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.1774C>T (p.L592F, p.(Leu592Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103125212C>T" "" "VUS" "" "0000347412" "0" "10" "11" "103029516" "103029516" "subst" "0.739352" "02327" "DYNC2H1_000047" "g.103029516A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.4238A>G (p.K1413R), DYNC2H1(NM_001080463.2):c.4238A>G (p.K1413R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103158787A>G" "" "benign" "" "0000348011" "0" "50" "11" "103075604" "103075604" "subst" "0.0002066" "02327" "DYNC2H1_000115" "g.103075604T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.8365T>C (p.(Phe2789Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103204875T>C" "" "VUS" "" "0000349271" "0" "10" "11" "103027234" "103027234" "subst" "0.105673" "02327" "DYNC2H1_000044" "g.103027234A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.3862A>G (p.T1288A), DYNC2H1(NM_001080463.2):c.3862A>G (p.T1288A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103156505A>G" "" "benign" "" "0000349719" "0" "90" "11" "102985939" "102985939" "subst" "0" "02327" "DYNC2H1_000096" "g.102985939G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103115210G>A" "" "pathogenic" "" "0000350000" "0" "90" "11" "102987406" "102987406" "subst" "0" "02327" "DYNC2H1_000097" "g.102987406T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103116677T>A" "" "pathogenic" "" "0000350006" "0" "50" "11" "103068671" "103068671" "subst" "5.52456E-6" "02327" "DYNC2H1_000113" "g.103068671A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103197942A>G" "" "VUS" "" "0000350426" "0" "50" "11" "103062948" "103062948" "subst" "0" "02327" "DYNC2H1_000112" "g.103062948G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103192219G>A" "" "VUS" "" "0000350720" "0" "90" "11" "103191757" "103191757" "subst" "0" "02327" "DYNC2H1_000127" "g.103191757G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103321028G>A" "" "pathogenic" "" "0000350809" "0" "30" "11" "103106388" "103106388" "subst" "0.00015041" "02327" "DYNC2H1_000120" "g.103106388C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103235659C>G" "" "likely benign" "" "0000350810" "0" "50" "11" "103107146" "103107146" "subst" "0" "02327" "DYNC2H1_000121" "g.103107146T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103236417T>G" "" "VUS" "" "0000541817" "0" "10" "11" "102980505" "102980505" "subst" "0.010468" "01943" "DYNC2H1_000014" "g.102980505T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.195+7T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103109776T>C" "" "benign" "" "0000541818" "0" "30" "11" "102984836" "102984836" "subst" "1.25219E-5" "01804" "DYNC2H1_000131" "g.102984836A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.371A>G (p.(Gln124Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103114107A>G" "" "likely benign" "" "0000541819" "0" "30" "11" "102985981" "102985981" "subst" "0" "01804" "DYNC2H1_000132" "g.102985981A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.578A>G (p.(Glu193Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103115252A>G" "" "likely benign" "" "0000541820" "0" "10" "11" "102987322" "102987322" "subst" "0.00415038" "01943" "DYNC2H1_000133" "g.102987322A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.645A>G (p.L215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103116593A>G" "" "benign" "" "0000541821" "0" "10" "11" "102987322" "102987322" "subst" "0.00415038" "02327" "DYNC2H1_000133" "g.102987322A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.645A>G (p.L215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103116593A>G" "" "benign" "" "0000541822" "0" "50" "11" "102988465" "102988465" "subst" "0" "02327" "DYNC2H1_000134" "g.102988465G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103117736G>T" "" "VUS" "" "0000541826" "0" "30" "11" "102991648" "102991648" "subst" "2.62595E-5" "01804" "DYNC2H1_000137" "g.102991648T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.1249-6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103120919T>C" "" "likely benign" "" "0000541827" "0" "30" "11" "102991668" "102991668" "subst" "0.00332149" "01804" "DYNC2H1_000023" "g.102991668C>A" "" "" "" "DYNC2H1(NM_001080463.1):c.1263C>A (p.F421L), DYNC2H1(NM_001377.2):c.1263C>A (p.(Phe421Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103120939C>A" "" "likely benign" "" "0000541828" "0" "10" "11" "103006557" "103006557" "subst" "0.0413076" "01943" "DYNC2H1_000138" "g.103006557G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.2454G>A (p.E818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103135828G>A" "" "benign" "" "0000541829" "0" "30" "11" "103006615" "103006615" "subst" "3.26243E-5" "01804" "DYNC2H1_000139" "g.103006615A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.2512A>G (p.(Thr838Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103135886A>G" "" "likely benign" "" "0000541830" "0" "90" "11" "103006652" "103006652" "subst" "4.11049E-6" "02327" "DYNC2H1_000140" "g.103006652T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103135923T>A" "" "pathogenic" "" "0000541831" "0" "90" "11" "103014015" "103014015" "subst" "0" "02327" "DYNC2H1_000141" "g.103014015C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103143286C>T" "" "pathogenic" "" "0000541832" "0" "50" "11" "103014034" "103014034" "subst" "0" "01804" "DYNC2H1_000142" "g.103014034T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.2612T>C (p.(Leu871Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103143305T>C" "" "VUS" "" "0000541833" "0" "30" "11" "103014108" "103014108" "subst" "2.46964E-5" "01804" "DYNC2H1_000143" "g.103014108G>T" "" "" "" "DYNC2H1(NM_001080463.1):c.2686G>T (p.(Val896Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103143379G>T" "" "likely benign" "" "0000541834" "0" "30" "11" "103022858" "103022858" "subst" "6.48346E-5" "01804" "DYNC2H1_000144" "g.103022858C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.2947-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103152129C>T" "" "likely benign" "" "0000541835" "0" "30" "11" "103022859" "103022859" "subst" "0" "01804" "DYNC2H1_000145" "g.103022859C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.2947-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103152130C>T" "" "likely benign" "" "0000541836" "0" "50" "11" "103024105" "103024105" "subst" "0.000529253" "01943" "DYNC2H1_000146" "g.103024105G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.3170G>A (p.R1057H, p.(Arg1057His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103153376G>A" "" "VUS" "" "0000541837" "0" "50" "11" "103024105" "103024105" "subst" "0.000529253" "01804" "DYNC2H1_000146" "g.103024105G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.3170G>A (p.R1057H, p.(Arg1057His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103153376G>A" "" "VUS" "" "0000541838" "0" "30" "11" "103024116" "103024116" "subst" "0.000847275" "01804" "DYNC2H1_000147" "g.103024116C>G" "" "" "" "DYNC2H1(NM_001080463.1):c.3181C>G (p.(Leu1061Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103153387C>G" "" "likely benign" "" "0000541840" "0" "10" "11" "103026052" "103026052" "del" "0" "01804" "DYNC2H1_000038" "g.103026052del" "" "" "" "DYNC2H1(NM_001080463.1):c.3574-19delT (p.(=)), DYNC2H1(NM_001080463.1):c.3574-8delT, DYNC2H1(NM_001080463.2):c.3574-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103155323del" "" "benign" "" "0000541841" "0" "30" "11" "103026053" "103026053" "subst" "0" "01804" "DYNC2H1_000149" "g.103026053G>T" "" "" "" "DYNC2H1(NM_001080463.1):c.3574-7G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103155324G>T" "" "likely benign" "" "0000541842" "0" "50" "11" "103027118" "103027118" "subst" "6.16908E-5" "01804" "DYNC2H1_000042" "g.103027118A>T" "" "" "" "DYNC2H1(NM_001080463.1):c.3746A>T (p.D1249V, p.(Asp1249Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103156389A>T" "" "VUS" "" "0000541843" "0" "30" "11" "103036743" "103036743" "subst" "0.0210799" "01804" "DYNC2H1_000049" "g.103036743C>G" "" "" "" "DYNC2H1(NM_001080463.1):c.4728C>G (p.N1576K, p.(Asn1576Lys)), DYNC2H1(NM_001080463.2):c.4728C>G (p.N1576K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103166014C>G" "" "likely benign" "" "0000541844" "0" "30" "11" "103039637" "103039637" "subst" "0.000256793" "01943" "DYNC2H1_000150" "g.103039637C>A" "" "" "" "DYNC2H1(NM_001080463.1):c.4916C>A (p.T1639K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103168908C>A" "" "likely benign" "" "0000541845" "0" "30" "11" "103039707" "103039707" "subst" "0.00941087" "01943" "DYNC2H1_000105" "g.103039707G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.4968+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103168978G>A" "" "likely benign" "" "0000541846" "0" "50" "11" "103043847" "103043847" "subst" "0" "01804" "DYNC2H1_000151" "g.103043847A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.5371A>G (p.(Met1791Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103173118A>G" "" "VUS" "" "0000541847" "0" "50" "11" "103043949" "103043949" "subst" "0.000181384" "01804" "DYNC2H1_000152" "g.103043949A>G" "" "" "" "DYNC2H1(NM_001377.3):c.5473A>G (p.(Ile1825Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103173220A>G" "" "VUS" "" "0000541848" "0" "90" "11" "103044023" "103044023" "del" "1.4033E-5" "02327" "DYNC2H1_000153" "g.103044023del" "" "" "" "DYNC2H1(NM_001377.2):c.5547delC (p.(Phe1849fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103173294del" "" "pathogenic" "" "0000541849" "0" "70" "11" "103047162" "103047162" "subst" "0" "02325" "DYNC2H1_000154" "g.103047162A>G" "" "" "" "DYNC2H1(NM_001080463.2):c.5873A>G (p.Q1958R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103176433A>G" "" "likely pathogenic" "" "0000541851" "0" "50" "11" "103048457" "103048457" "subst" "0.000777865" "01804" "DYNC2H1_000156" "g.103048457A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.6047A>G (p.(Tyr2016Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103177728A>G" "" "VUS" "" "0000541852" "0" "30" "11" "103048467" "103048467" "subst" "0.000122197" "01943" "DYNC2H1_000157" "g.103048467A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.6057A>G (p.L2019=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103177738A>G" "" "likely benign" "" "0000541854" "0" "50" "11" "103049785" "103049785" "subst" "0" "02327" "DYNC2H1_000159" "g.103049785A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103179056A>T" "" "VUS" "" "0000541856" "0" "30" "11" "103055619" "103055619" "subst" "0.00256622" "01804" "DYNC2H1_000059" "g.103055619C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.6478-6C>T, DYNC2H1(NM_001377.2):c.6478-6C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103184890C>T" "" "likely benign" "" "0000541859" "0" "10" "11" "103058297" "103058297" "subst" "0.00369875" "01943" "DYNC2H1_000163" "g.103058297G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.7122G>A (p.L2374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103187568G>A" "" "benign" "" "0000541860" "0" "30" "11" "103059228" "103059228" "subst" "0.00193767" "01804" "DYNC2H1_000164" "g.103059228A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.7143A>G (p.(Val2381=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103188499A>G" "" "likely benign" "" "0000541861" "0" "50" "11" "103060451" "103060451" "del" "0" "01804" "DYNC2H1_000165" "g.103060451del" "" "" "" "DYNC2H1(NM_001080463.1):c.7342delC (p.(Pro2448GlnfsTer7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103189722del" "" "VUS" "" "0000541862" "0" "90" "11" "103062862" "103062862" "subst" "0" "02327" "DYNC2H1_000002" "g.103062862T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103192133T>G" "" "pathogenic" "" "0000541863" "0" "30" "11" "103062936" "103062936" "subst" "0" "01943" "DYNC2H1_000166" "g.103062936A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.7651A>G (p.I2551V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103192207A>G" "" "likely benign" "" "0000541864" "0" "50" "11" "103090692" "103090692" "subst" "0.00231308" "01943" "DYNC2H1_000067" "g.103090692G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.8881G>A (p.A2961T, p.(Ala2961Thr)), DYNC2H1(NM_001080463.2):c.8881G>A (p.A2961T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103219963G>A" "" "VUS" "" "0000541865" "0" "30" "11" "103090692" "103090692" "subst" "0.00231308" "02327" "DYNC2H1_000067" "g.103090692G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.8881G>A (p.A2961T, p.(Ala2961Thr)), DYNC2H1(NM_001080463.2):c.8881G>A (p.A2961T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103219963G>A" "" "likely benign" "" "0000541866" "0" "30" "11" "103090692" "103090692" "subst" "0.00231308" "02326" "DYNC2H1_000067" "g.103090692G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.8881G>A (p.A2961T, p.(Ala2961Thr)), DYNC2H1(NM_001080463.2):c.8881G>A (p.A2961T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103219963G>A" "" "likely benign" "" "0000541867" "0" "90" "11" "103091449" "103091449" "subst" "0.000256554" "02327" "DYNC2H1_000068" "g.103091449A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.9044A>G (p.(Asp3015Gly)), DYNC2H1(NM_001080463.2):c.9044A>G (p.D3015G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103220720A>G" "" "pathogenic" "" "0000541868" "0" "30" "11" "103092866" "103092866" "subst" "0" "01804" "DYNC2H1_000167" "g.103092866G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.9215G>A (p.(Gly3072Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103222137G>A" "" "likely benign" "" "0000541869" "0" "30" "11" "103093822" "103093822" "subst" "0.00755956" "01804" "DYNC2H1_000069" "g.103093822G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.9353+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103223093G>A" "" "likely benign" "" "0000541870" "0" "50" "11" "103107188" "103107188" "subst" "0" "02327" "DYNC2H1_000168" "g.103107188G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103236459G>A" "" "VUS" "" "0000541871" "0" "30" "11" "103107198" "103107198" "subst" "0.00285677" "01804" "DYNC2H1_000169" "g.103107198A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.9749A>G (p.(Gln3250Arg)), DYNC2H1(NM_001080463.2):c.9749A>G (p.Q3250R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103236469A>G" "" "likely benign" "" "0000541872" "0" "30" "11" "103116000" "103116000" "subst" "0.00267481" "01943" "DYNC2H1_000170" "g.103116000T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.9960T>C (p.A3320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103245271T>C" "" "likely benign" "" "0000541875" "0" "50" "11" "103152929" "103152929" "subst" "0" "02327" "DYNC2H1_000173" "g.103152929G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103282200G>A" "" "VUS" "" "0000541876" "0" "30" "11" "103153756" "103153756" "subst" "7.49825E-5" "01943" "DYNC2H1_000174" "g.103153756G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.10853G>A (p.R3618H), DYNC2H1(NM_001080463.2):c.10853G>A (p.R3618H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103283027G>A" "" "likely benign" "" "0000541877" "0" "30" "11" "103153758" "103153758" "subst" "0.00787582" "01804" "DYNC2H1_000175" "g.103153758G>C" "" "" "" "DYNC2H1(NM_001080463.1):c.10855G>C (p.(Asp3619His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103283029G>C" "" "likely benign" "" "0000541879" "0" "10" "11" "103158278" "103158278" "subst" "0.319032" "01943" "DYNC2H1_000124" "g.103158278C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.11060C>T (p.A3687V), DYNC2H1(NM_001080463.2):c.11060C>T (p.A3687V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103287549C>T" "" "benign" "" "0000541880" "0" "10" "11" "103158278" "103158278" "subst" "0.319032" "02325" "DYNC2H1_000124" "g.103158278C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.11060C>T (p.A3687V), DYNC2H1(NM_001080463.2):c.11060C>T (p.A3687V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103287549C>T" "" "benign" "" "0000541881" "0" "50" "11" "103175330" "103175330" "subst" "0.000324124" "01804" "DYNC2H1_000177" "g.103175330A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.11284A>G (p.M3762V, p.(Met3762Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103304601A>G" "" "VUS" "" "0000541883" "0" "30" "11" "103175456" "103175465" "del" "0" "01804" "DYNC2H1_000178" "g.103175456_103175465del" "" "" "" "DYNC2H1(NM_001080463.1):c.11403+5_11403+14del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103304727_103304736del" "" "likely benign" "" "0000541884" "0" "10" "11" "103175467" "103175468" "ins" "0" "01943" "DYNC2H1_000179" "g.103175467_103175468insGGT" "" "" "" "DYNC2H1(NM_001080463.1):c.11403+16_11403+17insGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103304738_103304739insGGT" "" "benign" "" "0000541887" "0" "50" "11" "103194693" "103194693" "subst" "0" "01804" "DYNC2H1_000181" "g.103194693C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.12035C>T (p.(Ser4012Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103323965C>T" "" "VUS" "" "0000541888" "0" "30" "11" "103270608" "103270608" "subst" "0.00159096" "01804" "DYNC2H1_000090" "g.103270608A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.12387+8A>G, DYNC2H1(NM_001377.2):c.12366+8A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103399880A>G" "" "likely benign" "" "0000541889" "0" "30" "11" "103327014" "103327014" "subst" "8.29827E-5" "01804" "DYNC2H1_000182" "g.103327014G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.12599G>A (p.(Arg4200His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103456286G>A" "" "likely benign" "" "0000541890" "0" "30" "11" "103349922" "103349922" "subst" "0.0127116" "01804" "DYNC2H1_000095" "g.103349922G>C" "" "" "" "DYNC2H1(NM_001080463.1):c.12886G>C (p.G4296R, p.(Gly4296Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103479194G>C" "" "likely benign" "" "0000541891" "0" "50" "11" "103349966" "103349966" "subst" "0.000152028" "01943" "DYNC2H1_000183" "g.103349966C>A" "" "" "" "DYNC2H1(NM_001080463.1):c.12930C>A (p.F4310L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103479238C>A" "" "VUS" "" "0000612850" "0" "30" "11" "103025465" "103025465" "subst" "0.000328519" "01804" "DYNC2H1_000185" "g.103025465A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.3500A>G (p.(His1167Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103154736A>G" "" "likely benign" "" "0000612851" "0" "50" "11" "103027154" "103027154" "subst" "0" "01804" "DYNC2H1_000186" "g.103027154G>C" "" "" "" "DYNC2H1(NM_001080463.1):c.3782G>C (p.(Arg1261Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103156425G>C" "" "VUS" "" "0000612852" "0" "30" "11" "103040839" "103040839" "subst" "4.11658E-6" "01943" "DYNC2H1_000188" "g.103040839T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.4971T>C (p.G1657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103170110T>C" "" "likely benign" "" "0000612853" "0" "30" "11" "103104827" "103104827" "subst" "0.000194548" "01804" "DYNC2H1_000191" "g.103104827A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.9505A>G (p.(Ile3169Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103234098A>G" "" "likely benign" "" "0000612854" "0" "30" "11" "103114467" "103114467" "subst" "0.000664713" "01804" "DYNC2H1_000071" "g.103114467G>C" "" "" "" "DYNC2H1(NM_001080463.1):c.9886G>C (p.E3296Q, p.(Glu3296Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103243738G>C" "" "likely benign" "" "0000612855" "0" "50" "11" "103126160" "103126160" "subst" "0" "01804" "DYNC2H1_000192" "g.103126160T>A" "" "" "" "DYNC2H1(NM_001080463.1):c.10244T>A (p.(Ile3415Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103255431T>A" "" "VUS" "" "0000612856" "0" "30" "11" "103158343" "103158343" "subst" "8.39743E-6" "01943" "DYNC2H1_000194" "g.103158343G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.11116+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103287614G>A" "" "likely benign" "" "0000612858" "0" "30" "11" "103194685" "103194685" "subst" "4.88122E-5" "01943" "DYNC2H1_000196" "g.103194685C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.12027C>T (p.I4009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103323957C>T" "" "likely benign" "" "0000622474" "0" "30" "11" "102991207" "102991207" "subst" "0" "01943" "DYNC2H1_000135" "g.102991207T>A" "" "" "" "DYNC2H1(NM_001080463.1):c.1031T>A (p.F344Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103120478T>A" "" "likely benign" "" "0000622475" "0" "50" "11" "102992209" "102992209" "subst" "0.000142744" "01943" "DYNC2H1_000184" "g.102992209G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.1469G>A (p.R490H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103121480G>A" "" "VUS" "" "0000622476" "0" "50" "11" "102995941" "102995941" "subst" "0.000301676" "01943" "DYNC2H1_000100" "g.102995941C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.1774C>T (p.L592F, p.(Leu592Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103125212C>T" "" "VUS" "" "0000622477" "0" "50" "11" "103026151" "103026151" "subst" "0.000318419" "01943" "DYNC2H1_000040" "g.103026151G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.3665G>A (p.G1222E, p.(Gly1222Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103155422G>A" "" "VUS" "" "0000622478" "0" "30" "11" "103036734" "103036734" "subst" "0.00154713" "01943" "DYNC2H1_000187" "g.103036734A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.4719A>G (p.Q1573=), DYNC2H1(NM_001080463.2):c.4719A>G (p.Q1573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103166005A>G" "" "likely benign" "" "0000622479" "0" "50" "11" "103047080" "103047080" "subst" "6.07516E-5" "01943" "DYNC2H1_000189" "g.103047080T>A" "" "" "" "DYNC2H1(NM_001080463.1):c.5791T>A (p.L1931M), DYNC2H1(NM_001377.3):c.5791T>A (p.(Leu1931Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103176351T>A" "" "VUS" "" "0000622480" "0" "70" "11" "103093816" "103093816" "subst" "2.19798E-5" "01943" "DYNC2H1_000190" "g.103093816G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.9353+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103223087G>A" "" "likely pathogenic" "" "0000622481" "0" "30" "11" "103126846" "103126846" "subst" "3.44039E-5" "01943" "DYNC2H1_000193" "g.103126846A>T" "" "" "" "DYNC2H1(NM_001080463.1):c.10359A>T (p.T3453=), DYNC2H1(NM_001080463.2):c.10359A>T (p.T3453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103256117A>T" "" "likely benign" "" "0000648061" "1" "30" "11" "103019260" "103019260" "subst" "0.0162462" "03575" "DYNC2H1_000033" "g.103019260G>A" "103/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "103 heterozygous; {DB:CLININrs61898615}" "Germline" "" "rs61898615" "0" "" "" "g.103148531G>A" "" "likely benign" "" "0000648062" "1" "30" "11" "103090692" "103090692" "subst" "0.00231308" "03575" "DYNC2H1_000067" "g.103090692G>A" "5/2785 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs199568537}" "Germline" "" "rs199568537" "0" "" "" "g.103219963G>A" "" "likely benign" "" "0000648063" "1" "30" "11" "103153788" "103153788" "subst" "0.00704879" "03575" "DYNC2H1_000079" "g.103153788C>A" "5/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs117178504}" "Germline" "" "rs117178504" "0" "" "" "g.103283059C>A" "" "likely benign" "" "0000656613" "0" "70" "11" "103019205" "103019205" "subst" "1.28049E-5" "02325" "DYNC2H1_000001" "g.103019205A>G" "" "" "" "DYNC2H1(NM_001080463.2):c.2819-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103148476A>G" "" "likely pathogenic" "" "0000656614" "0" "70" "11" "103128370" "103128370" "subst" "0" "02325" "DYNC2H1_000197" "g.103128370G>A" "" "" "" "DYNC2H1(NM_001080463.2):c.10516G>A (p.A3506T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103257641G>A" "" "likely pathogenic" "" "0000667957" "1" "90" "11" "103327020" "103327021" "dup" "0" "00006" "DYNC2H1_000199" "g.103327020_103327021dup" "" "Vig ESHG2020 C06.5, {PMID:Vig 2020:32753734}" "" "" "" "Germline" "" "" "0" "" "" "g.103456292_103456293dup" "" "pathogenic (recessive)" "" "0000667958" "3" "90" "11" "103112272" "103112272" "subst" "0" "00006" "DYNC2H1_000198" "g.103112272C>G" "" "Vig ESHG2020 C06.5, {PMID:Vig 2020:32753734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000667959" "3" "90" "11" "103112272" "103112272" "subst" "0" "00006" "DYNC2H1_000198" "g.103112272C>G" "" "Vig ESHG2020 C06.5, {PMID:Vig 2020:32753734}" "" "" "" "Germline" "" "" "0" "" "" "g.103241543C>G" "" "pathogenic (recessive)" "" "0000667960" "3" "90" "11" "103112272" "103112272" "subst" "0" "00006" "DYNC2H1_000198" "g.103112272C>G" "" "Vig ESHG2020 C06.5, {PMID:Vig 2020:32753734}" "" "" "" "Germline" "" "" "0" "" "" "g.103241543C>G" "" "pathogenic (recessive)" "" "0000667961" "1" "90" "11" "103070104" "103070104" "subst" "0" "00006" "DYNC2H1_000201" "g.103070104A>C" "" "Vig ESHG2020 C06.5, {PMID:Vig 2020:32753734}" "" "Thr2663Pro" "" "Germline" "" "" "0" "" "" "g.103199375A>C" "" "pathogenic (recessive)" "" "0000667962" "2" "90" "11" "103055779" "103055779" "subst" "0" "00006" "DYNC2H1_000200" "g.103055779A>T" "" "Vig ESHG2020 C06.5, {PMID:Vig 2020:32753734}" "" "" "" "Germline" "" "" "0" "" "" "g.103185050A>T" "" "pathogenic (recessive)" "" "0000667963" "2" "90" "11" "103339363" "103339363" "subst" "0" "00006" "DYNC2H1_000202" "g.103339363T>G" "" "Vig ESHG2020 C06.5, {PMID:Vig 2020:32753734}" "" "Leu4239Arg" "" "Germline" "" "" "0" "" "" "g.103468635T>G" "" "pathogenic (recessive)" "" "0000669096" "3" "30" "11" "103019260" "103019260" "subst" "0.0162462" "03575" "DYNC2H1_000033" "g.103019260G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs61898615}" "Germline" "" "rs61898615" "0" "" "" "g.103148531G>A" "" "likely benign" "" "0000678970" "0" "50" "11" "103043931" "103043931" "subst" "8.4674E-6" "01804" "DYNC2H1_000203" "g.103043931C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.5455C>T (p.(His1819Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678971" "0" "50" "11" "103060484" "103060484" "subst" "0" "01804" "DYNC2H1_000204" "g.103060484T>A" "" "" "" "DYNC2H1(NM_001080463.1):c.7376T>A (p.(Ile2459Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678972" "0" "70" "11" "103116085" "103116085" "subst" "0" "01943" "DYNC2H1_000205" "g.103116085C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.10045C>T (p.R3349*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678973" "0" "30" "11" "103124007" "103124007" "subst" "0.000230701" "01804" "DYNC2H1_000206" "g.103124007T>A" "" "" "" "DYNC2H1(NM_001080463.1):c.10064-7T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678974" "0" "90" "11" "103128460" "103128460" "subst" "0" "01943" "DYNC2H1_000207" "g.103128460C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.10606C>T (p.R3536*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690858" "0" "90" "11" "103022977" "103022977" "subst" "4.55016E-5" "02326" "DYNC2H1_000208" "g.103022977T>G" "" "" "" "DYNC2H1(NM_001080463.2):c.3059T>G (p.L1020*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690859" "0" "50" "11" "103130659" "103130659" "subst" "0.000172131" "01943" "DYNC2H1_000209" "g.103130659T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.10669T>C (p.S3557P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690861" "0" "50" "11" "103175330" "103175330" "subst" "0.000324124" "01943" "DYNC2H1_000177" "g.103175330A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.11284A>G (p.M3762V, p.(Met3762Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690862" "0" "90" "11" "103178491" "103178491" "subst" "0" "02327" "DYNC2H1_000210" "g.103178491G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723062" "0" "30" "11" "102984921" "102984921" "subst" "1.77171E-5" "01943" "DYNC2H1_000211" "g.102984921A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.456A>G (p.S152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723063" "0" "70" "11" "102996014" "102996019" "del" "0" "02329" "DYNC2H1_000029" "g.102996014_102996019del" "" "" "" "DYNC2H1(NM_001080463.2):c.1847_1852delTTCTTA (p.I616_L617del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723064" "0" "50" "11" "103026168" "103026168" "subst" "0.00159255" "01804" "DYNC2H1_000041" "g.103026168C>A" "" "" "" "DYNC2H1(NM_001080463.1):c.3682C>A (p.L1228I, p.(Leu1228Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723065" "0" "30" "11" "103043984" "103043984" "subst" "0.000132018" "01943" "DYNC2H1_000212" "g.103043984A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.5508A>G (p.K1836=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723066" "0" "30" "11" "103059283" "103059283" "subst" "0.00151932" "01804" "DYNC2H1_000214" "g.103059283A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.7198A>G (p.(Ile2400Val)), DYNC2H1(NM_001080463.2):c.7198A>G (p.I2400V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723067" "0" "50" "11" "103062882" "103062882" "subst" "4.05149E-5" "01943" "DYNC2H1_000215" "g.103062882C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.7597C>T (p.R2533C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723068" "0" "50" "11" "103068662" "103068662" "subst" "0.000402757" "01943" "DYNC2H1_000216" "g.103068662A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.7709A>G (p.D2570G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723069" "0" "30" "11" "103069983" "103069983" "subst" "4.30196E-6" "01943" "DYNC2H1_000217" "g.103069983C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.7866C>T (p.N2622=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723070" "0" "90" "11" "103091449" "103091449" "subst" "0.000256554" "02329" "DYNC2H1_000068" "g.103091449A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.9044A>G (p.(Asp3015Gly)), DYNC2H1(NM_001080463.2):c.9044A>G (p.D3015G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723071" "0" "50" "11" "103091475" "103091475" "subst" "0" "01804" "DYNC2H1_000218" "g.103091475A>T" "" "" "" "DYNC2H1(NM_001080463.1):c.9070A>T (p.(Met3024Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723072" "0" "50" "11" "103124070" "103124070" "subst" "3.25396E-5" "01943" "DYNC2H1_000219" "g.103124070C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.10120C>T (p.R3374C), DYNC2H1(NM_001377.3):c.10099C>T (p.(Arg3367Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723073" "0" "90" "11" "103153752" "103153752" "dup" "0" "01943" "DYNC2H1_000220" "g.103153752dup" "" "" "" "DYNC2H1(NM_001080463.1):c.10849dupA (p.I3617Nfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723074" "0" "30" "11" "103194686" "103194686" "subst" "0.00148951" "01804" "DYNC2H1_000221" "g.103194686G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.12028G>A (p.(Ala4010Thr)), DYNC2H1(NM_001080463.2):c.12028G>A (p.A4010T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729920" "3" "90" "11" "103048445" "103048445" "subst" "4.07093E-6" "00000" "DYNC2H1_000213" "g.103048445C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001080463.1:c.6035C>T:p.(Ala2012Val)" "" "Germline" "" "" "0" "" "" "g.103177716C>T" "" "pathogenic (recessive)" "" "0000729921" "3" "90" "11" "103048445" "103048445" "subst" "4.07093E-6" "00000" "DYNC2H1_000213" "g.103048445C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001080463.1:c.6035C>T:p.(Ala2012Val)" "" "Germline" "" "" "0" "" "" "g.103177716C>T" "" "pathogenic (recessive)" "" "0000729922" "3" "90" "11" "102991434" "102991434" "subst" "2.46847E-5" "00000" "DYNC2H1_000098" "g.102991434C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001080463.1:c.1151C>T:(p.Ala384Val)" "" "Germline" "" "" "0" "" "" "g.103120705C>T" "" "pathogenic (recessive)" "" "0000729923" "3" "90" "11" "103048445" "103048445" "subst" "4.07093E-6" "00000" "DYNC2H1_000213" "g.103048445C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001080463.1:c.6035C>T:p.(Ala2012Val)" "" "Germline" "" "" "0" "" "" "g.103177716C>T" "" "pathogenic (recessive)" "" "0000760754" "0" "50" "11" "103093816" "103093816" "del" "0" "01709" "DYNC2H1_000222" "g.103093816del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000760755" "0" "50" "11" "103178484" "103178484" "subst" "0" "01709" "DYNC2H1_000223" "g.103178484G>A" "" "{PMID: McInerney-Leo 2015:25492405}" "" "NM_001377:c.11417G>A p.Arg3806His" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000760806" "0" "70" "11" "103128460" "103128460" "subst" "0" "01396" "DYNC2H1_000207" "g.103128460C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "pathogenic" "" "0000760807" "0" "70" "11" "103029646" "103029646" "subst" "1.25932E-5" "01396" "DYNC2H1_000224" "g.103029646G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "" "0000760987" "1" "90" "11" "103048394" "103048394" "subst" "4.07867E-6" "00006" "DYNC2H1_000225" "g.103048394C>T" "" "{PMID:Tang 2021:33777089}" "" "" "ACMG PS4, PM2, PM3, PP4" "Germline" "" "" "0" "" "" "g.103177665C>T" "" "pathogenic (recessive)" "ACMG" "0000760998" "2" "90" "11" "103128460" "103128460" "subst" "0" "00006" "DYNC2H1_000207" "g.103128460C>T" "" "{PMID:Tang 2021:33777089}" "" "" "ACMG PS4, PM2, PM3, PP4" "Germline" "" "" "0" "" "" "g.103257731C>T" "" "pathogenic (recessive)" "ACMG" "0000790965" "21" "50" "11" "103062879" "103062879" "subst" "5.16903E-6" "01164" "DYNC2H1_000226" "g.103062879C>T" "" "PMID: 23456818, 23339108" "" "" "ACMG: PS4_MOD, PM3, PM2_SUP" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000790966" "11" "50" "11" "103059257" "103059257" "subst" "1.6322E-5" "01164" "DYNC2H1_000227" "g.103059257A>G" "" "" "" "" "ACMG: PM2_SUP" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000791219" "21" "70" "11" "103070104" "103070104" "subst" "0" "00000" "DYNC2H1_000201" "g.103070104A>C" "0,00012 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.103199375A>C" "" "likely pathogenic" "ACMG" "0000791257" "11" "70" "11" "103339363" "103339363" "subst" "0" "00000" "DYNC2H1_000202" "g.103339363T>G" "0,00012 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.103468635T>G" "" "likely pathogenic" "ACMG" "0000794192" "0" "70" "11" "103018617" "103018617" "subst" "0" "03508" "DYNC2H1_000228" "g.103018617G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000794193" "0" "70" "11" "103062846" "103062846" "subst" "0" "03508" "DYNC2H1_000229" "g.103062846G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000804673" "0" "50" "11" "103006307" "103006307" "subst" "0" "02327" "DYNC2H1_000230" "g.103006307G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804674" "0" "30" "11" "103006542" "103006542" "subst" "4.89904E-5" "01943" "DYNC2H1_000231" "g.103006542T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.2439T>C (p.F813=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804675" "0" "50" "11" "103022933" "103022933" "subst" "0.000435329" "01943" "DYNC2H1_000232" "g.103022933A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.3015A>G (p.L1005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804676" "0" "30" "11" "103024028" "103024028" "subst" "0.00093431" "01804" "DYNC2H1_000233" "g.103024028A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.3097-4A>G (p.?), DYNC2H1(NM_001080463.2):c.3097-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804677" "0" "30" "11" "103025296" "103025296" "subst" "0.000385402" "01804" "DYNC2H1_000234" "g.103025296G>T" "" "" "" "DYNC2H1(NM_001080463.1):c.3419G>T (p.(Gly1140Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804678" "0" "50" "11" "103025334" "103025334" "subst" "0.000235547" "01943" "DYNC2H1_000235" "g.103025334C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.3457C>T (p.R1153W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804679" "0" "30" "11" "103043925" "103043925" "subst" "0.000190987" "01804" "DYNC2H1_000236" "g.103043925A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.5449A>G (p.(Met1817Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804680" "0" "30" "11" "103055608" "103055608" "subst" "0.00330936" "02326" "DYNC2H1_000058" "g.103055608C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.6478-17C>T, DYNC2H1(NM_001080463.2):c.6478-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804681" "0" "30" "11" "103060427" "103060427" "subst" "0.00106926" "01804" "DYNC2H1_000237" "g.103060427C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.7319C>T (p.(Thr2440Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804682" "0" "50" "11" "103060450" "103060450" "subst" "0" "01943" "DYNC2H1_000238" "g.103060450C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.7342C>T (p.P2448S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804683" "0" "90" "11" "103070036" "103070036" "subst" "0" "02327" "DYNC2H1_000239" "g.103070036T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804684" "0" "50" "11" "103070040" "103070040" "subst" "0" "01943" "DYNC2H1_000240" "g.103070040T>A" "" "" "" "DYNC2H1(NM_001080463.1):c.7923T>A (p.D2641E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804685" "0" "50" "11" "103070084" "103070084" "subst" "0.000285123" "01943" "DYNC2H1_000241" "g.103070084G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.7967G>A (p.R2656H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804686" "0" "30" "11" "103093759" "103093759" "subst" "0.00048053" "01943" "DYNC2H1_000242" "g.103093759T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.9297T>C (p.Y3099=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804687" "0" "50" "11" "103124071" "103124071" "subst" "6.10088E-5" "01943" "DYNC2H1_000243" "g.103124071G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.10121G>A (p.R3374H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804688" "0" "70" "11" "103158287" "103158287" "subst" "0" "02327" "DYNC2H1_000244" "g.103158287C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000804689" "0" "50" "11" "103194621" "103194621" "subst" "2.4425E-5" "01943" "DYNC2H1_000245" "g.103194621G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.11963G>A (p.R3988H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000818655" "0" "90" "11" "103070083" "103070083" "subst" "2.03653E-5" "00000" "DYNC2H1_000304" "g.103070083C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7966C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818656" "0" "90" "11" "103114446" "103114446" "subst" "4.25217E-6" "00000" "DYNC2H1_000321" "g.103114446G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.9865G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818657" "0" "90" "11" "103062244" "103062244" "subst" "0" "00000" "DYNC2H1_000298" "g.103062244A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7438-2A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818658" "0" "90" "11" "103070102" "103070102" "subst" "1.22269E-5" "00000" "DYNC2H1_000114" "g.103070102G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7985G>A" "Variant published before in El Hokayem 2012 with p.Pro2496Ser" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818659" "0" "90" "11" "103116105" "103116105" "subst" "5.08839E-6" "00000" "DYNC2H1_000322" "g.103116105T>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.10063+2T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818660" "0" "90" "11" "103126259" "103126259" "subst" "1.97545E-5" "00000" "DYNC2H1_000172" "g.103126259T>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.10343T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818661" "0" "90" "11" "102988581" "102988581" "subst" "2.87052E-5" "00000" "DYNC2H1_000252" "g.102988581C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.988C>T" "variant 2nd chromosome not mentioned; Variant published before in Schmidts 2013; El Hokayem 2012 with p.Asn2845Ilefs*8 or Hom" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818662" "0" "90" "11" "103022977" "103022977" "subst" "4.55016E-5" "00000" "DYNC2H1_000208" "g.103022977T>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.3059T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818663" "0" "90" "11" "103068727" "103068735" "del" "0" "00000" "DYNC2H1_000302" "g.103068727_103068735del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7774_7782del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818664" "0" "90" "11" "103058085" "103058085" "subst" "2.85328E-5" "00000" "DYNC2H1_000293" "g.103058085G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.6910G>A" "Variant published before in Schmidts 2013 with p.P2797_L2799del" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818665" "0" "90" "11" "103107157" "103107157" "subst" "0" "00000" "DYNC2H1_000319" "g.103107157A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.9710-2A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818666" "0" "90" "11" "102999730" "102999730" "subst" "0" "00000" "DYNC2H1_000258" "g.102999730T>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.1949T>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818667" "0" "90" "11" "103104887" "103104887" "subst" "0" "00000" "DYNC2H1_000318" "g.103104887C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.9565C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818668" "0" "90" "11" "103026168" "103026168" "subst" "0.00159255" "00000" "DYNC2H1_000041" "g.103026168C>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.3682C>A" "Variant published before in Schmidts 2013 with p.V2555M" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818669" "0" "90" "11" "103093816" "103093816" "subst" "2.19798E-5" "00000" "DYNC2H1_000190" "g.103093816G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.9353+1G>A" "Variant published before in Baujat 2013 with p.Cys2054Ser" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818670" "0" "90" "11" "103059362" "103059362" "subst" "4.13856E-6" "00000" "DYNC2H1_000296" "g.103059362G>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7277G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818671" "0" "90" "11" "103091449" "103091449" "subst" "0.000256554" "00000" "DYNC2H1_000068" "g.103091449A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.9044A>G" "Variant published before in Schmidts 2013; Baujat 2013 with p.E436X or c.3459-1G>A or p.R3813C or c.654_655ins29bp or p.Ser3741Pro or p.Arg2015Ter" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818672" "0" "90" "11" "103124070" "103124070" "subst" "3.25396E-5" "00000" "DYNC2H1_000219" "g.103124070C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.10120C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818673" "0" "90" "11" "103107209" "103107213" "del" "0" "00000" "DYNC2H1_000320" "g.103107209_103107213del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.9760_9764del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818674" "0" "90" "11" "103349886" "103349886" "subst" "2.84349E-5" "00000" "DYNC2H1_000337" "g.103349886A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.12850A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818675" "0" "90" "11" "103062928" "103062928" "subst" "0" "00000" "DYNC2H1_000301" "g.103062928T>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7643T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818676" "0" "90" "11" "103056969" "103056969" "subst" "0" "00000" "DYNC2H1_000290" "g.103056969A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.6634-2A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818677" "0" "90" "11" "102995926" "102995926" "subst" "4.07402E-6" "00000" "DYNC2H1_000257" "g.102995926C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.1759C>T" "Variant published before in Baujat 2013 with p.Thr2383Met" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818678" "0" "90" "11" "103126259" "103126259" "subst" "1.97545E-5" "00000" "DYNC2H1_000172" "g.103126259T>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.10343T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818679" "0" "90" "11" "103039685" "103039685" "subst" "0" "00000" "DYNC2H1_000274" "g.103039685A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.4964A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818680" "0" "90" "11" "103036714" "103036714" "subst" "0" "00000" "DYNC2H1_000006" "g.103036714C>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.4699C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818681" "0" "90" "11" "103057220" "103057220" "subst" "0" "00000" "DYNC2H1_000292" "g.103057220T>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.6883T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818682" "0" "90" "11" "103023013" "103023013" "del" "0" "00000" "DYNC2H1_000263" "g.103023013del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.3095del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818683" "0" "90" "11" "103049880" "103049880" "subst" "0" "00000" "DYNC2H1_000284" "g.103049880A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.6265A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818684" "0" "90" "11" "103156993" "103156993" "subst" "4.07584E-6" "00000" "DYNC2H1_000326" "g.103156993C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.10921C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818685" "0" "90" "11" "102991711" "102991711" "subst" "0" "00000" "DYNC2H1_000099" "g.102991711G>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.1306G>T" "Variant published before in Schmidts 2013 with p.D3015G" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818686" "0" "90" "11" "103006243" "103006243" "subst" "4.42231E-6" "00000" "DYNC2H1_000261" "g.103006243T>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.2225T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818687" "0" "90" "11" "103070129" "103070129" "subst" "8.16267E-6" "00000" "DYNC2H1_000004" "g.103070129T>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.8012T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818688" "0" "90" "11" "103306714" "103306714" "subst" "8.14505E-6" "00000" "DYNC2H1_000332" "g.103306714C>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.12431C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818689" "0" "90" "11" "103075673" "103075673" "del" "0" "00000" "DYNC2H1_000312" "g.103075673del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.8434del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818690" "0" "90" "11" "103025230" "103025230" "del" "2.20255E-5" "00000" "DYNC2H1_000264" "g.103025230del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.3353del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818691" "0" "90" "11" "102984407" "102984407" "subst" "1.00139E-5" "00000" "DYNC2H1_000248" "g.102984407C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.337C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818692" "0" "90" "11" "102999734" "102999734" "subst" "4.19903E-6" "00000" "DYNC2H1_000259" "g.102999734G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.1953G>A" "Variant published before in Schmidts 2013 with p.G1442D" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818693" "0" "90" "11" "103091449" "103091449" "subst" "0.000256554" "00000" "DYNC2H1_000068" "g.103091449A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.9044A>G" "Variant published before in Schmidts 2013; Baujat 2013 with p.E436X or c.3459-1G>A or p.R3813C or c.654_655ins29bp or p.Ser3741Pro or p.Arg2015Ter" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818694" "0" "90" "11" "102991254" "102991254" "subst" "4.06739E-6" "00000" "DYNC2H1_000253" "g.102991254C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.1078C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818695" "0" "90" "11" "102988581" "102988581" "subst" "2.87052E-5" "00000" "DYNC2H1_000252" "g.102988581C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.988C>T" "Variant published before in Schmidts 2013; El Hokayem 2012 with p.Asn2845Ilefs*8 or Hom" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818696" "0" "90" "11" "102980498" "102980498" "subst" "0" "00000" "DYNC2H1_000247" "g.102980498G>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.195G>T" "Variant published before in Schmidts 2013 with p.M1379V" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818697" "0" "90" "11" "103048393" "103048393" "subst" "1.63027E-5" "00000" "DYNC2H1_000281" "g.103048393G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.5983G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818698" "0" "90" "11" "103027445" "103027445" "subst" "0.000220491" "00000" "DYNC2H1_000266" "g.103027445G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.4073G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818699" "0" "90" "11" "103044837" "103044837" "del" "0" "00000" "DYNC2H1_000277" "g.103044837del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.5612del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818700" "0" "90" "11" "103091450" "103091450" "subst" "4.07266E-6" "00000" "DYNC2H1_000317" "g.103091450T>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.9045T>G" "Variant published before in Schmidts 2013; Baujat 2013 as p.Asp3015Gly with p.E436X or c.3459-1G>A or p.R3813C or c.654_655ins29bp or p.Ser3741Pro or p.Arg2015Ter or p.Arg2015Ter" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818701" "0" "90" "11" "103024028" "103024028" "subst" "0.00093431" "00000" "DYNC2H1_000233" "g.103024028A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.3097-4A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818702" "0" "90" "11" "103349863" "103349863" "subst" "0" "00000" "DYNC2H1_000336" "g.103349863T>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.12827T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818703" "0" "90" "11" "103082568" "103082568" "del" "0" "00000" "DYNC2H1_000314" "g.103082568del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.8590del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818704" "0" "90" "11" "103006359" "103006359" "subst" "0" "00000" "DYNC2H1_000262" "g.103006359T>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.2341T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818705" "0" "90" "11" "103040997" "103040997" "subst" "0" "00000" "DYNC2H1_000275" "g.103040997T>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.5129T>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818706" "0" "90" "11" "103124169" "103124169" "subst" "8.14664E-6" "00000" "DYNC2H1_000324" "g.103124169C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.10219C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818707" "0" "90" "11" "103048526" "103048526" "subst" "0" "00000" "DYNC2H1_000282" "g.103048526G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.6116G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818708" "0" "90" "11" "102993725" "102993728" "del" "0" "00000" "DYNC2H1_000256" "g.102993725_102993728del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.1657_1660del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818709" "0" "90" "11" "103036640" "103036640" "subst" "0" "00000" "DYNC2H1_000272" "g.103036640C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.4625C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818710" "0" "90" "11" "103128448" "103128448" "subst" "6.84071E-5" "00000" "DYNC2H1_000123" "g.103128448C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.10594C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818711" "0" "90" "11" "103062862" "103062862" "subst" "0" "00000" "DYNC2H1_000002" "g.103062862T>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7577T>G" "Variant published before in Ellard 2015 with c.2819-14A>G" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818712" "0" "90" "11" "103055627" "103055627" "subst" "3.67299E-5" "00000" "DYNC2H1_000107" "g.103055627T>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.6480T>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818713" "0" "90" "11" "103086524" "103086525" "del" "0" "00000" "DYNC2H1_000316" "g.103086524_103086525del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.8769_8770del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818714" "0" "90" "11" "103049886" "103049886" "subst" "0" "00000" "DYNC2H1_000285" "g.103049886A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.6271A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818715" "0" "90" "11" "102988581" "102988581" "subst" "2.87052E-5" "00000" "DYNC2H1_000252" "g.102988581C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.988C>T" "Variant published before in Schmidts 2013; El Hokayem 2012 with p.Asn2845Ilefs*8 or Hom" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818716" "0" "90" "11" "103124113" "103124113" "subst" "3.66047E-5" "00000" "DYNC2H1_000171" "g.103124113C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.10163C>T" "Variant published before in Schmidts 2013 with p.N4160_Q4314del" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818717" "0" "90" "11" "102988358" "102988358" "subst" "8.43839E-6" "00000" "DYNC2H1_000251" "g.102988358A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.767-2A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818718" "0" "90" "11" "103306743" "103306743" "subst" "1.6302E-5" "00000" "DYNC2H1_000333" "g.103306743C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.12460C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818719" "0" "90" "11" "103093816" "103093816" "subst" "2.19798E-5" "00000" "DYNC2H1_000190" "g.103093816G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.9353+1G>A" "Variant published before in Baujat 2013 with p.Cys2054Ser" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818720" "0" "90" "11" "103059353" "103059353" "subst" "0" "00000" "DYNC2H1_000295" "g.103059353C>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7268C>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818721" "0" "90" "11" "103070084" "103070084" "subst" "4.07319E-6" "00000" "DYNC2H1_000305" "g.103070084G>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7967G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818722" "0" "90" "11" "103128448" "103128448" "subst" "6.84071E-5" "00000" "DYNC2H1_000123" "g.103128448C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.10594C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818723" "0" "90" "11" "103048393" "103048393" "subst" "1.63027E-5" "00000" "DYNC2H1_000281" "g.103048393G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.5983G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818724" "0" "90" "11" "103175330" "103175330" "subst" "0.000324124" "00000" "DYNC2H1_000177" "g.103175330A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.11284A>G" "Variant published before in Baujat 2013 as Hom" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818725" "0" "90" "11" "103044036" "103044036" "subst" "0" "00000" "DYNC2H1_000276" "g.103044036T>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.5558+2T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818726" "0" "90" "11" "103124076" "103124076" "subst" "0" "00000" "DYNC2H1_000323" "g.103124076T>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.10126T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818727" "0" "90" "11" "103175337" "103175337" "subst" "0.000216256" "00000" "DYNC2H1_000328" "g.103175337A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.11291A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818728" "0" "90" "11" "103128478" "103128478" "subst" "0" "00000" "DYNC2H1_000325" "g.103128478C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.10624C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818729" "0" "90" "11" "103048286" "103048286" "subst" "1.28337E-5" "00000" "DYNC2H1_000279" "g.103048286T>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.5876T>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818730" "0" "90" "11" "103187337" "103187340" "del" "0" "00000" "DYNC2H1_000330" "g.103187337_103187340del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.11734_11737del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818731" "0" "90" "11" "103055721" "103055721" "subst" "4.07684E-6" "00000" "DYNC2H1_000288" "g.103055721C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.6574C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818732" "0" "90" "11" "103124113" "103124113" "subst" "3.66047E-5" "00000" "DYNC2H1_000171" "g.103124113C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.10163C>T" "Variant published before in Schmidts 2013 with p.N4160_Q4314del" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818733" "0" "90" "11" "103128448" "103128448" "subst" "6.84071E-5" "00000" "DYNC2H1_000123" "g.103128448C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.10594C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818734" "0" "90" "11" "103029440" "103029448" "dup" "0" "00000" "DYNC2H1_000267" "g.103029440_103029448dup" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.4162_4170dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818735" "0" "90" "11" "102987302" "102987302" "subst" "1.80535E-5" "00000" "DYNC2H1_000249" "g.102987302T>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.625T>A" "Variant published before in Merrill 2009 with c.5295+1G>T" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818736" "0" "90" "11" "103029440" "103029448" "dup" "0" "00000" "DYNC2H1_000267" "g.103029440_103029448dup" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.4162_4170dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818737" "0" "90" "11" "103048393" "103048393" "subst" "1.63027E-5" "00000" "DYNC2H1_000281" "g.103048393G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.5983G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818738" "0" "90" "11" "103086484" "103086484" "subst" "0" "00000" "DYNC2H1_000315" "g.103086484T>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.8729T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818739" "0" "90" "11" "103116105" "103116105" "subst" "5.08839E-6" "00000" "DYNC2H1_000322" "g.103116105T>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.10063+2T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818740" "0" "90" "11" "103048335" "103048335" "del" "0" "00000" "DYNC2H1_000280" "g.103048335del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.5925del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818741" "0" "90" "11" "103062948" "103062948" "subst" "0" "00000" "DYNC2H1_000112" "g.103062948G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7663G>A" "Variant published before in Schmidts 2013 with p.L1228I" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818742" "0" "90" "11" "103349886" "103349886" "subst" "2.84349E-5" "00000" "DYNC2H1_000337" "g.103349886A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.12850A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818743" "0" "90" "11" "103070831" "103070831" "subst" "3.26846E-5" "00000" "DYNC2H1_000309" "g.103070831C>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.8145C>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818744" "0" "90" "11" "102991694" "102991694" "subst" "9.14896E-5" "00000" "DYNC2H1_000254" "g.102991694G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.1289G>A" "Variant published before in El Hokayem 2012 as p.Arg430Cys with p.Arg338Gly and p.Arg1423Cys" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818745" "0" "90" "11" "103074506" "103074506" "subst" "0" "00000" "DYNC2H1_000311" "g.103074506G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.8311+1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818746" "0" "90" "11" "102996014" "102996019" "del" "0" "00000" "DYNC2H1_000029" "g.102996014_102996019del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.1847_1852del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818747" "0" "90" "11" "102987302" "102987302" "subst" "1.80535E-5" "00000" "DYNC2H1_000249" "g.102987302T>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.625T>A" "Variant published before in Merrill 2009 with c.5295+1G>T" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818748" "0" "90" "11" "103062862" "103062862" "subst" "0" "00000" "DYNC2H1_000002" "g.103062862T>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7577T>G" "Variant published before in Ellard 2015 with c.2819-14A>G" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818749" "0" "90" "11" "103080662" "103080662" "subst" "0" "00000" "DYNC2H1_000313" "g.103080662C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.8512C>T" "Variant published before in Merrill 2009 with p.R2205H" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818750" "0" "90" "11" "103126259" "103126259" "subst" "1.97545E-5" "00000" "DYNC2H1_000172" "g.103126259T>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.10343T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818751" "0" "90" "11" "103349886" "103349886" "subst" "2.84349E-5" "00000" "DYNC2H1_000337" "g.103349886A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.12850A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818752" "0" "90" "11" "103055761" "103055761" "subst" "4.09252E-6" "00000" "DYNC2H1_000289" "g.103055761G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.6614G>A" "Variant published before in Merrill 2009 with p.R2838X" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818753" "0" "90" "11" "103057203" "103057203" "subst" "0" "00000" "DYNC2H1_000291" "g.103057203T>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.6866T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818754" "0" "90" "11" "103157011" "103157011" "del" "0" "00000" "DYNC2H1_000327" "g.103157011del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.10939del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818755" "0" "90" "11" "103033818" "103033818" "subst" "0" "00000" "DYNC2H1_000271" "g.103033818G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.4553G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818756" "0" "90" "11" "103325923" "103325926" "del" "0" "00000" "DYNC2H1_000334" "g.103325923_103325926del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.12487_12490del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818757" "0" "90" "11" "102980496" "102980496" "subst" "0" "00000" "DYNC2H1_000246" "g.102980496A>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.193A>C" "Variant published before in Schmidts 2013 as p. T65T with p.M1379V" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818758" "0" "90" "11" "103048286" "103048286" "subst" "1.28337E-5" "00000" "DYNC2H1_000279" "g.103048286T>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.5876T>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818759" "0" "90" "11" "103062333" "103062333" "subst" "0" "00000" "DYNC2H1_000300" "g.103062333T>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7525T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818760" "0" "90" "11" "103060517" "103060517" "subst" "0" "00000" "DYNC2H1_000297" "g.103060517C>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7409C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818761" "0" "90" "11" "103070101" "103070101" "subst" "0" "00000" "DYNC2H1_000306" "g.103070101C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7984C>T" "Variant published before in El Hokayem 2012 as p.Arg2662Gln with p.Pro2496Ser" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818762" "0" "90" "11" "103091449" "103091449" "subst" "0.000256554" "00000" "DYNC2H1_000068" "g.103091449A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.9044A>G" "variant 2nd chromosome not mentioned; Variant published before in Schmidts 2013; Baujat 2013 with p.E436X or c.3459-1G>A or p.R3813C or c.654_655ins29bp or p.Ser3741Pro or p.Arg2015Ter" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818763" "0" "90" "11" "103055692" "103055692" "subst" "4.07481E-6" "00000" "DYNC2H1_000286" "g.103055692G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.6545G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818764" "0" "90" "11" "103058085" "103058085" "subst" "2.85328E-5" "00000" "DYNC2H1_000293" "g.103058085G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.6910G>A" "Variant published before in Schmidts 2013 with p.P2797_L2799del" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818765" "0" "90" "11" "103128460" "103128460" "subst" "0" "00000" "DYNC2H1_000207" "g.103128460C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.10606C>T" "Variant published before in Baujat 2013 with p.His696Pro" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818766" "0" "90" "11" "103070187" "103070187" "subst" "0" "00000" "DYNC2H1_000308" "g.103070187C>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.8070C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818767" "0" "90" "11" "103070883" "103070883" "subst" "0" "00000" "DYNC2H1_000310" "g.103070883G>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.8197G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818768" "0" "90" "11" "103091449" "103091449" "subst" "0.000256554" "00000" "DYNC2H1_000068" "g.103091449A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.9044A>G" "Variant published before in Schmidts 2013; Baujat 2013 with p.E436X or c.3459-1G>A or p.R3813C or c.654_655ins29bp or p.Ser3741Pro or p.Arg2015Ter" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818769" "0" "90" "11" "103049880" "103049880" "subst" "0" "00000" "DYNC2H1_000284" "g.103049880A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.6265A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818770" "0" "90" "11" "103062249" "103062249" "subst" "0" "00000" "DYNC2H1_000299" "g.103062249C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7441C>T" "Variant published before in Schmidts 2013 as p.R2481Q with p.E3273X" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818771" "0" "90" "11" "103058287" "103058287" "subst" "8.15202E-6" "00000" "DYNC2H1_000294" "g.103058287C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7112C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818772" "0" "90" "11" "103070167" "103070167" "subst" "8.25532E-6" "00000" "DYNC2H1_000307" "g.103070167G>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.8050G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818773" "0" "90" "11" "103327078" "103327079" "ins" "4.63366E-6" "00000" "DYNC2H1_000335" "g.103327078_103327079insT" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.12663_12664insT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818774" "0" "90" "11" "103060517" "103060517" "subst" "0" "00000" "DYNC2H1_000297" "g.103060517C>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7409C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818775" "0" "90" "11" "102995926" "102995926" "subst" "4.07402E-6" "00000" "DYNC2H1_000257" "g.102995926C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.1759C>T" "Variant published before in Baujat 2013 with p.Thr2383Met" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818776" "0" "90" "11" "103039541" "103039541" "subst" "0" "00000" "DYNC2H1_000273" "g.103039541T>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.4820T>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818777" "0" "90" "11" "102984397" "102984397" "subst" "1.43332E-5" "00000" "DYNC2H1_000015" "g.102984397C>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.327C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818778" "0" "90" "11" "103029645" "103029645" "subst" "2.94794E-5" "00000" "DYNC2H1_000268" "g.103029645C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.4267C>T" "Variant published before in El Hokayem 2012 with p.Arg430Cys and p.Arg338Gly" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818779" "0" "90" "11" "103182710" "103182710" "del" "0" "00000" "DYNC2H1_000329" "g.103182710del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.11618del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818780" "0" "90" "11" "103062879" "103062879" "subst" "5.16903E-6" "00000" "DYNC2H1_000226" "g.103062879C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7594C>T" "Variant published before in Schmidts 2013; Baujat 2013 as Hom" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818781" "0" "90" "11" "103031700" "103031700" "subst" "0" "00000" "DYNC2H1_000269" "g.103031700T>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.4418T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818782" "0" "90" "11" "103055761" "103055761" "subst" "4.09252E-6" "00000" "DYNC2H1_000289" "g.103055761G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.6614G>A" "Variant published before in Merrill 2009 with p.R2838X" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818783" "0" "90" "11" "103191861" "103191861" "subst" "4.10186E-6" "00000" "DYNC2H1_000331" "g.103191861C>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.11850C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818784" "0" "90" "11" "102987302" "102987302" "subst" "1.80535E-5" "00000" "DYNC2H1_000249" "g.102987302T>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.625T>A" "Variant published before in Merrill 2009 with c.5295+1G>T" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818785" "0" "90" "11" "103006359" "103006359" "subst" "0" "00000" "DYNC2H1_000262" "g.103006359T>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.2341T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818786" "0" "90" "11" "103040955" "103040955" "subst" "2.05352E-5" "00000" "DYNC2H1_000009" "g.103040955C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.5087C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818787" "0" "90" "11" "103070062" "103070062" "subst" "1.62916E-5" "00000" "DYNC2H1_000303" "g.103070062G>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7945G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818788" "0" "90" "11" "103091449" "103091449" "subst" "0.000256554" "00000" "DYNC2H1_000068" "g.103091449A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.9044A>G" "Variant published before in Schmidts 2013; Baujat 2013 with p.E436X or c.3459-1G>A or p.R3813C or c.654_655ins29bp or p.Ser3741Pro or p.Arg2015Ter" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818789" "0" "90" "11" "103029645" "103029645" "subst" "2.94794E-5" "00000" "DYNC2H1_000268" "g.103029645C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.4267C>T" "Variant published before in El Hokayem 2012 with p.Arg430Cys and p.Arg338Gly" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818790" "0" "90" "11" "103055709" "103055709" "subst" "0" "00000" "DYNC2H1_000287" "g.103055709T>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.6562T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818791" "0" "90" "11" "103048393" "103048393" "subst" "1.63027E-5" "00000" "DYNC2H1_000281" "g.103048393G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.5983G>A" "variant 2nd chromosome not mentioned" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818792" "0" "90" "11" "102991767" "102991767" "del" "5.24433E-6" "00000" "DYNC2H1_000255" "g.102991767del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.1360+2del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818793" "0" "90" "11" "102987302" "102987302" "subst" "1.80535E-5" "00000" "DYNC2H1_000249" "g.102987302T>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.625T>A" "Variant published before in Merrill 2009 with c.5295+1G>T" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818794" "0" "90" "11" "103048394" "103048394" "subst" "4.07867E-6" "00000" "DYNC2H1_000225" "g.103048394C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.5984C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818795" "0" "90" "11" "103070084" "103070084" "subst" "0.000285123" "00000" "DYNC2H1_000241" "g.103070084G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7967G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818796" "0" "90" "11" "103091449" "103091449" "subst" "0.000256554" "00000" "DYNC2H1_000068" "g.103091449A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.9044A>G" "Variant published before in Schmidts 2013; Baujat 2013 with p.E436X or c.3459-1G>A or p.R3813C or c.654_655ins29bp or p.Ser3741Pro or p.Arg2015Ter" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818797" "0" "90" "11" "103026168" "103026168" "subst" "0.00159255" "00000" "DYNC2H1_000041" "g.103026168C>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.3682C>A" "Variant published before in Schmidts 2013 with p.D3015G" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818887" "0" "70" "11" "102991434" "102991434" "subst" "2.46847E-5" "00000" "DYNC2H1_000098" "g.102991434C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.1151C>T" "Variant published before in Mei 2015 with p.Gln1451Ter" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818888" "0" "70" "11" "103029440" "103029448" "dup" "0" "00000" "DYNC2H1_000267" "g.103029440_103029448dup" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.4162_4170dupGTCACAACA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818889" "0" "70" "11" "103091449" "103091449" "subst" "0.000256554" "00000" "DYNC2H1_000068" "g.103091449A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.9044A>G" "Variant published before in Schmidts 2013; Baujat 2013 with p.E436X or c.3459-1G>A or p.R3813C or c.654_655ins29bp or p.Ser3741Pro or p.Arg2015Ter or p.Arg2015Ter" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818890" "0" "70" "11" "103031740" "103031740" "del" "0" "00000" "DYNC2H1_000270" "g.103031740del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.4458del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818891" "0" "70" "11" "103070101" "103070101" "subst" "0" "00000" "DYNC2H1_000306" "g.103070101C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7984C>T" "Variant published before in El Hokayem 2012 as p.Arg2662Gln with p.Pro2496Ser" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818892" "0" "70" "11" "103047082" "103047082" "subst" "0.000163271" "00000" "DYNC2H1_000278" "g.103047082G>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.5793G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818893" "0" "70" "11" "103124113" "103124113" "subst" "3.66047E-5" "00000" "DYNC2H1_000171" "g.103124113C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.10163C>T" "Variant published before in Schmidts 2013 with p.N4160_Q4314del" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818894" "0" "70" "11" "103029645" "103029645" "subst" "2.94794E-5" "00000" "DYNC2H1_000268" "g.103029645C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.4267C>T" "Variant published before in El Hokayem 2012 with p.Arg430Cys and p.Arg338Gly" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818895" "0" "70" "11" "103004370" "103004370" "dup" "0" "00000" "DYNC2H1_000260" "g.103004370dup" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.2040dup" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818896" "0" "70" "11" "103027219" "103027219" "subst" "0" "00000" "DYNC2H1_000265" "g.103027219G>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.3847G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818897" "0" "70" "11" "103058287" "103058287" "subst" "8.15202E-6" "00000" "DYNC2H1_000294" "g.103058287C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.7112C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818898" "0" "70" "11" "103349953" "103349953" "subst" "8.13782E-6" "00000" "DYNC2H1_000338" "g.103349953G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.12917G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818899" "0" "70" "11" "102987417" "102987417" "subst" "1.66342E-5" "00000" "DYNC2H1_000250" "g.102987417G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.740G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818900" "0" "70" "11" "103091449" "103091449" "subst" "0.000256554" "00000" "DYNC2H1_000068" "g.103091449A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.9044A>G" "Variant published before in Schmidts 2013; Baujat 2013 with p.E436X or c.3459-1G>A or p.R3813C or c.654_655ins29bp or p.Ser3741Pro or p.Arg2015Ter" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818910" "0" "70" "11" "103049776" "103049776" "subst" "0" "00000" "DYNC2H1_000283" "g.103049776G>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.6161G>C" "Variant published before in Baujat 2013 with c.9353+1G>A or p.Trp179Gly" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818914" "0" "70" "11" "103091449" "103091449" "subst" "0.000256554" "00000" "DYNC2H1_000068" "g.103091449A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.9044A>G" "Variant published before in Schmidts 2013; Baujat 2013 with p.E436X or c.3459-1G>A or p.R3813C or c.654_655ins29bp or p.Ser3741Pro or p.Arg2015Ter" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818916" "0" "70" "11" "103048457" "103048457" "subst" "0.000777865" "00000" "DYNC2H1_000156" "g.103048457A>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.6047A>G" "Variant published before in Qiao 2016 with c.6551A>T" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818918" "0" "70" "11" "103048394" "103048394" "subst" "4.07867E-6" "00000" "DYNC2H1_000225" "g.103048394C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001080463.1:c.5984C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826453" "0" "50" "11" "103059362" "103059362" "subst" "4.13856E-6" "00000" "DYNC2H1_000296" "g.103059362G>T" "" "{PMID:Strong-2020:33369054}" "" "c.7277G >T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000826454" "0" "50" "11" "103070084" "103070084" "subst" "0.000285123" "00000" "DYNC2H1_000241" "g.103070084G>A" "" "{PMID:Strong-2020:33369054}" "" "c.7967G > A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000830148" "0" "70" "11" "103173891" "103173891" "subst" "2.03899E-5" "04116" "DYNC2H1_000341" "g.103173891C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.103303162C>A" "" "VUS" "" "0000830149" "0" "70" "11" "102984913" "102984913" "subst" "0" "04116" "DYNC2H1_000339" "g.102984913C>T" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.103114184C>T" "" "VUS" "" "0000830150" "0" "70" "11" "103070831" "103070832" "delins" "0" "04116" "DYNC2H1_000340" "g.103070831_103070832delinsAT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.103200102_103200103delinsAT" "" "VUS" "" "0000830151" "0" "70" "11" "103178483" "103178483" "subst" "0" "04116" "DYNC2H1_000342" "g.103178483C>T" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.103307754C>T" "" "VUS" "" "0000843650" "21" "70" "11" "103049750" "103049750" "subst" "0" "00774" "DYNC2H1_000343" "g.103049750A>G" "" "" "" "" "" "Germline" "yes" "rs1362562605" "0" "" "" "g.103179021A>G" "" "pathogenic (recessive)" "ACMG" "0000843652" "11" "70" "11" "103092822" "103092825" "del" "0" "00774" "DYNC2H1_000344" "g.103092822_103092825del" "" "" "" "9171_9174delGGAA" "" "Germline" "yes" "" "0" "" "" "g.103222093_103222096del" "" "pathogenic (recessive)" "ACMG" "0000843653" "0" "70" "11" "103327055" "103327055" "subst" "0" "00774" "DYNC2H1_000093" "g.103327055C>T" "" "" "" "" "" "Germline" "yes" "rs750919118" "0" "" "" "g.103456327C>T" "" "pathogenic (recessive)" "ACMG" "0000843654" "0" "70" "11" "103049750" "103049750" "subst" "0" "00774" "DYNC2H1_000343" "g.103049750A>G" "" "" "" "" "" "Germline" "yes" "rs1362562605" "0" "" "" "g.103179021A>G" "" "pathogenic (recessive)" "ACMG" "0000843655" "21" "70" "11" "103049750" "103049750" "subst" "0" "00774" "DYNC2H1_000343" "g.103049750A>G" "" "" "" "" "" "Germline" "yes" "rs1362562605" "0" "" "" "g.103179021A>G" "" "pathogenic (recessive)" "ACMG" "0000843656" "11" "90" "11" "99715102" "103351453" "del" "0" "00774" "DYNC2H1_000348" "g.(?_99715102)_(103351453_?)del" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000843657" "0" "70" "11" "102991711" "102991711" "subst" "0" "00774" "DYNC2H1_000099" "g.102991711G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.103120982G>T" "" "pathogenic (recessive)" "ACMG" "0000843658" "0" "70" "11" "103182652" "103182652" "subst" "1.2224E-5" "00774" "DYNC2H1_000347" "g.103182652T>G" "" "" "" "" "" "Germline" "yes" "rs752554582" "0" "" "" "g.103311923T>G" "" "pathogenic (recessive)" "ACMG" "0000843711" "0" "70" "11" "103175354" "103175354" "subst" "5.29614E-5" "00774" "DYNC2H1_000083" "g.103175354G>A" "" "" "" "" "" "Germline" "yes" "rs780426783" "0" "" "" "g.103304625G>A" "" "pathogenic (recessive)" "ACMG" "0000843712" "0" "70" "11" "103024116" "103024116" "subst" "0.000847275" "00774" "DYNC2H1_000147" "g.103024116C>G" "" "" "" "" "" "Germline" "yes" "rs200466720" "0" "" "" "g.103153387C>G" "" "VUS" "ACMG" "0000843715" "11" "70" "11" "103092822" "103092825" "del" "0" "00774" "DYNC2H1_000344" "g.103092822_103092825del" "" "" "" "9171_9174delGGAA" "" "Germline" "yes" "" "0" "" "" "g.103222093_103222096del" "" "pathogenic (recessive)" "ACMG" "0000843716" "21" "70" "11" "103178520" "103178520" "subst" "0" "00774" "DYNC2H1_000346" "g.103178520C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.103307791C>T" "" "likely pathogenic (maternal)" "ACMG" "0000843717" "21" "70" "11" "103036714" "103036714" "subst" "0" "00774" "DYNC2H1_000006" "g.103036714C>G" "" "" "" "doi: 10.1002/humu.23362" "" "Germline" "yes" "rs901629870" "0" "" "" "g.103165985C>G" "" "VUS" "ACMG" "0000843718" "11" "70" "11" "102985897" "102985897" "subst" "0" "00774" "DYNC2H1_000345" "g.102985897C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.103115168C>G" "" "likely pathogenic (recessive)" "ACMG" "0000852652" "0" "30" "11" "103006653" "103006653" "subst" "0.000867991" "02326" "DYNC2H1_000349" "g.103006653G>A" "" "" "" "DYNC2H1(NM_001080463.2):c.2550G>A (p.L850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852653" "0" "50" "11" "103039621" "103039621" "subst" "2.85142E-5" "01943" "DYNC2H1_000355" "g.103039621A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.4900A>G (p.M1634V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852654" "0" "30" "11" "103046984" "103046984" "subst" "0.000892558" "01943" "DYNC2H1_000053" "g.103046984G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.5695G>A (p.V1899I, p.(Val1899Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852655" "0" "30" "11" "103070010" "103070010" "subst" "0.000106362" "01943" "DYNC2H1_000359" "g.103070010C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.7893C>T (p.H2631=, p.(His2631=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852656" "0" "50" "11" "103107263" "103107263" "subst" "0.000499601" "01943" "DYNC2H1_000360" "g.103107263T>A" "" "" "" "DYNC2H1(NM_001080463.1):c.9814T>A (p.L3272I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852658" "0" "10" "11" "103326040" "103326040" "subst" "0.00190602" "02326" "DYNC2H1_000128" "g.103326040A>G" "" "" "" "DYNC2H1(NM_001080463.2):c.12587+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862111" "0" "30" "11" "103018595" "103018595" "subst" "8.1819E-6" "01943" "DYNC2H1_000350" "g.103018595T>A" "" "" "" "DYNC2H1(NM_001080463.1):c.2797T>A (p.S933T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862112" "0" "30" "11" "103022892" "103022892" "subst" "8.65551E-5" "01804" "DYNC2H1_000351" "g.103022892G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.2974G>A (p.(Asp992Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862113" "0" "30" "11" "103024073" "103024073" "subst" "3.45132E-5" "01804" "DYNC2H1_000352" "g.103024073C>G" "" "" "" "DYNC2H1(NM_001080463.1):c.3138C>G (p.(Ile1046Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862114" "0" "50" "11" "103027150" "103027150" "subst" "2.03636E-5" "01943" "DYNC2H1_000353" "g.103027150A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.3778A>G (p.I1260V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862115" "0" "90" "11" "103027165" "103027165" "subst" "2.03565E-5" "01804" "DYNC2H1_000354" "g.103027165C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.3793C>T (p.(Arg1265Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000862116" "0" "50" "11" "103049922" "103049922" "subst" "0.000224589" "01804" "DYNC2H1_000356" "g.103049922T>A" "" "" "" "DYNC2H1(NM_001080463.1):c.6307T>A (p.(Ser2103Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862117" "0" "30" "11" "103069964" "103069964" "subst" "0.000221212" "01943" "DYNC2H1_000358" "g.103069964T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.7847T>C (p.I2616T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862118" "0" "30" "11" "103070010" "103070010" "subst" "0.000106362" "01804" "DYNC2H1_000359" "g.103070010C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.7893C>T (p.H2631=, p.(His2631=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862119" "0" "30" "11" "103153788" "103153788" "subst" "0.00704879" "02326" "DYNC2H1_000079" "g.103153788C>A" "" "" "" "DYNC2H1(NM_001080463.1):c.10885C>A (p.R3629=), DYNC2H1(NM_001080463.2):c.10885C>A (p.R3629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862120" "0" "30" "11" "103173965" "103173965" "subst" "8.95758E-5" "01804" "DYNC2H1_000361" "g.103173965G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.11260G>A (p.(Gly3754Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862121" "0" "30" "11" "103187327" "103187327" "subst" "0.00112149" "02326" "DYNC2H1_000362" "g.103187327C>T" "" "" "" "DYNC2H1(NM_001080463.2):c.11724C>T (p.N3908=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000868144" "0" "70" "11" "102991434" "102991434" "subst" "2.46847E-5" "00774" "DYNC2H1_000098" "g.102991434C>T" "" "" "" "" "" "Germline" "yes" "rs369614706" "0" "" "" "g.103120705C>T" "RCV000516108" "likely pathogenic (recessive)" "ACMG" "0000868149" "11" "90" "11" "103049957" "103049960" "del" "0" "00774" "DYNC2H1_000357" "g.103049957_103049960del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.103179228_103179231del" "" "pathogenic (recessive)" "ACMG" "0000868266" "21" "90" "11" "103029729" "103029729" "subst" "0" "00006" "DYNC2H1_000363" "g.103029729C>T" "" "{PMID:Mei 2015:25982780}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000868267" "11" "90" "11" "102991434" "102991434" "subst" "2.46847E-5" "00006" "DYNC2H1_000098" "g.102991434C>T" "" "{PMID:Mei 2015:25982780}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000889379" "0" "90" "11" "102991660" "102991660" "subst" "0" "02326" "DYNC2H1_000364" "g.102991660C>T" "" "" "" "DYNC2H1(NM_001080463.2):c.1255C>T (p.Q419*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889380" "0" "70" "11" "102991693" "102991693" "subst" "0.000217663" "02325" "DYNC2H1_000024" "g.102991693C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.1288C>T (p.R430C), DYNC2H1(NM_001080463.2):c.1288C>T (p.R430C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889381" "0" "10" "11" "103026052" "103026052" "del" "0" "02326" "DYNC2H1_000038" "g.103026052del" "" "" "" "DYNC2H1(NM_001080463.1):c.3574-19delT (p.(=)), DYNC2H1(NM_001080463.1):c.3574-8delT, DYNC2H1(NM_001080463.2):c.3574-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889382" "0" "30" "11" "103036734" "103036734" "subst" "0.00154713" "02326" "DYNC2H1_000187" "g.103036734A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.4719A>G (p.Q1573=), DYNC2H1(NM_001080463.2):c.4719A>G (p.Q1573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889383" "0" "30" "11" "103059283" "103059283" "subst" "0.00151932" "02326" "DYNC2H1_000214" "g.103059283A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.7198A>G (p.(Ile2400Val)), DYNC2H1(NM_001080463.2):c.7198A>G (p.I2400V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889384" "0" "30" "11" "103126846" "103126846" "subst" "3.44039E-5" "02326" "DYNC2H1_000193" "g.103126846A>T" "" "" "" "DYNC2H1(NM_001080463.1):c.10359A>T (p.T3453=), DYNC2H1(NM_001080463.2):c.10359A>T (p.T3453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889385" "0" "50" "11" "103229013" "103229013" "subst" "0.000462656" "02325" "DYNC2H1_000365" "g.103229013G>T" "" "" "" "DYNC2H1(NM_001080463.2):c.12103G>T (p.G4035C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913386" "0" "30" "11" "103041640" "103041640" "subst" "0.000541643" "01804" "DYNC2H1_000366" "g.103041640G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.5177G>A (p.(Arg1726Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913387" "0" "30" "11" "103044867" "103044867" "subst" "0.000144129" "01804" "DYNC2H1_000367" "g.103044867G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.5642G>A (p.(Arg1881Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913388" "0" "30" "11" "103090641" "103090641" "subst" "0.000227149" "01804" "DYNC2H1_000368" "g.103090641T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.8833-3T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925242" "0" "70" "11" "102988553" "102988553" "del" "0" "01804" "DYNC2H1_000369" "g.102988553del" "" "" "" "DYNC2H1(NM_001080463.1):c.960del (p.(Pro321Glnfs*48))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000925244" "0" "30" "11" "103043807" "103043807" "subst" "0" "01804" "DYNC2H1_000370" "g.103043807T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.5335-4T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925245" "0" "70" "11" "103062991" "103062991" "subst" "0" "02329" "DYNC2H1_000371" "g.103062991C>T" "" "" "" "DYNC2H1(NM_001080463.2):c.7706C>T (p.S2569L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000929741" "0" "30" "11" "103024028" "103024028" "subst" "0.00093431" "02326" "DYNC2H1_000233" "g.103024028A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.3097-4A>G (p.?), DYNC2H1(NM_001080463.2):c.3097-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929742" "0" "30" "11" "103043918" "103043918" "subst" "0.00102069" "02326" "DYNC2H1_000372" "g.103043918C>T" "" "" "" "DYNC2H1(NM_001080463.2):c.5442C>T (p.P1814=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929743" "0" "30" "11" "103074443" "103074443" "subst" "0" "01804" "DYNC2H1_000373" "g.103074443C>A" "" "" "" "DYNC2H1(NM_001080463.1):c.8249C>A (p.(Pro2750Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929744" "0" "30" "11" "103075604" "103075604" "subst" "0.0002066" "01804" "DYNC2H1_000115" "g.103075604T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.8365T>C (p.(Phe2789Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929745" "0" "30" "11" "103194686" "103194686" "subst" "0.00148951" "02326" "DYNC2H1_000221" "g.103194686G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.12028G>A (p.(Ala4010Thr)), DYNC2H1(NM_001080463.2):c.12028G>A (p.A4010T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949484" "0" "50" "11" "102995941" "102995941" "subst" "0.000301676" "01804" "DYNC2H1_000100" "g.102995941C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.1774C>T (p.L592F, p.(Leu592Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949485" "0" "50" "11" "103178483" "103178483" "subst" "0" "02327" "DYNC2H1_000342" "g.103178483C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949486" "0" "50" "11" "103349893" "103349893" "subst" "2.43748E-5" "01804" "DYNC2H1_000374" "g.103349893G>C" "" "" "" "DYNC2H1(NM_001080463.1):c.12857G>C (p.(Arg4286Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966037" "0" "70" "11" "103006364" "103006364" "subst" "0" "02329" "DYNC2H1_000375" "g.103006364G>T" "" "" "" "DYNC2H1(NM_001080463.2):c.2345+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000966038" "0" "30" "11" "103029690" "103029690" "subst" "0.000484851" "02326" "DYNC2H1_000048" "g.103029690T>C" "" "" "" "DYNC2H1(NM_001080463.1):c.4312T>C (p.L1438=), DYNC2H1(NM_001080463.2):c.4312T>C (p.L1438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966039" "0" "30" "11" "103047082" "103047082" "subst" "0.000163271" "01804" "DYNC2H1_000278" "g.103047082G>C" "" "" "" "DYNC2H1(NM_001080463.1):c.5793G>C (p.(Leu1931Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966040" "0" "70" "11" "103080607" "103080607" "subst" "9.23259E-6" "02329" "DYNC2H1_000376" "g.103080607A>G" "" "" "" "DYNC2H1(NM_001080463.2):c.8457A>G (p.I2819M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000966042" "0" "30" "11" "103107198" "103107198" "subst" "0.00285677" "02326" "DYNC2H1_000169" "g.103107198A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.9749A>G (p.(Gln3250Arg)), DYNC2H1(NM_001080463.2):c.9749A>G (p.Q3250R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979268" "0" "70" "11" "103025474" "103025474" "subst" "1.07127E-5" "01804" "DYNC2H1_000104" "g.103025474T>G" "" "" "" "DYNC2H1(NM_001377.3):c.3509T>G (p.(Leu1170*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979269" "0" "50" "11" "103039514" "103039514" "subst" "4.07286E-6" "01804" "DYNC2H1_000377" "g.103039514C>A" "" "" "" "DYNC2H1(NM_001377.3):c.4793C>A (p.(Ala1598Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979270" "0" "50" "11" "103044795" "103044795" "del" "0" "01804" "DYNC2H1_000378" "g.103044795del" "" "" "" "DYNC2H1(NM_001377.3):c.5570del (p.(Thr1857AsnfsTer10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979271" "0" "50" "11" "103058146" "103058146" "subst" "0" "01804" "DYNC2H1_000379" "g.103058146C>T" "" "" "" "DYNC2H1(NM_001377.3):c.6971C>T (p.(Ser2324Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979272" "0" "50" "11" "103116009" "103116009" "subst" "0" "01804" "DYNC2H1_000380" "g.103116009A>C" "" "" "" "DYNC2H1(NM_001377.3):c.9948A>C (p.(Leu3316Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979273" "0" "50" "11" "103124070" "103124070" "subst" "3.25396E-5" "01804" "DYNC2H1_000219" "g.103124070C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.10120C>T (p.R3374C), DYNC2H1(NM_001377.3):c.10099C>T (p.(Arg3367Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979274" "0" "70" "11" "103126259" "103126259" "subst" "1.97545E-5" "01804" "DYNC2H1_000172" "g.103126259T>C" "" "" "" "DYNC2H1(NM_001377.3):c.10322T>C (p.(Leu3441Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979275" "0" "30" "11" "103130715" "103130715" "subst" "0" "01804" "DYNC2H1_000381" "g.103130715C>A" "" "" "" "DYNC2H1(NM_001377.3):c.10695+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979276" "0" "50" "11" "103156986" "103156986" "subst" "0" "01804" "DYNC2H1_000382" "g.103156986T>G" "" "" "" "DYNC2H1(NM_001377.3):c.10893T>G (p.(Ile3631Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979277" "0" "90" "11" "103158288" "103158288" "subst" "0" "01804" "DYNC2H1_000125" "g.103158288G>A" "" "" "" "DYNC2H1(NM_001377.3):c.11049G>A (p.(Pro3683=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979278" "0" "30" "11" "103182775" "103182775" "subst" "0.00020831" "02326" "DYNC2H1_000383" "g.103182775A>G" "" "" "" "DYNC2H1(NM_001080463.2):c.11670+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979279" "0" "30" "11" "103191748" "103191748" "subst" "0.00130749" "01804" "DYNC2H1_000384" "g.103191748A>T" "" "" "" "DYNC2H1(NM_001377.3):c.11726-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998647" "0" "30" "11" "103036734" "103036734" "subst" "0.00154713" "02330" "DYNC2H1_000187" "g.103036734A>G" "" "" "" "DYNC2H1(NM_001080463.1):c.4719A>G (p.Q1573=), DYNC2H1(NM_001080463.2):c.4719A>G (p.Q1573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998648" "0" "50" "11" "103044023" "103044023" "del" "1.4033E-5" "01804" "DYNC2H1_000153" "g.103044023del" "" "" "" "DYNC2H1(NM_001377.2):c.5547delC (p.(Phe1849fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998649" "0" "50" "11" "103047027" "103047027" "subst" "0" "01804" "DYNC2H1_000385" "g.103047027C>G" "" "" "" "DYNC2H1(NM_001377.2):c.5738C>G (p.(Thr1913Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998650" "0" "30" "11" "103047110" "103047110" "subst" "6.87462E-5" "01804" "DYNC2H1_000386" "g.103047110G>C" "" "" "" "DYNC2H1(NM_001377.2):c.5821G>C (p.(Ala1941Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998651" "0" "50" "11" "103116017" "103116017" "subst" "3.72472E-5" "01804" "DYNC2H1_000387" "g.103116017G>A" "" "" "" "DYNC2H1(NM_001377.2):c.9956G>A (p.(Arg3319His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014702" "0" "50" "11" "103153756" "103153756" "subst" "7.49825E-5" "02325" "DYNC2H1_000174" "g.103153756G>A" "" "" "" "DYNC2H1(NM_001080463.1):c.10853G>A (p.R3618H), DYNC2H1(NM_001080463.2):c.10853G>A (p.R3618H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014703" "0" "50" "11" "103173911" "103173911" "subst" "0.000195384" "02325" "DYNC2H1_000081" "g.103173911C>T" "" "" "" "DYNC2H1(NM_001080463.1):c.11206C>T (p.(Pro3736Ser)), DYNC2H1(NM_001080463.2):c.11206C>T (p.P3736S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025805" "0" "50" "11" "103036733" "103036733" "subst" "7.1143E-6" "02329" "DYNC2H1_000388" "g.103036733A>C" "" "" "" "DYNC2H1(NM_001080463.2):c.4718A>C (p.Q1573P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025806" "0" "50" "11" "103082595" "103082595" "subst" "0" "02329" "DYNC2H1_000389" "g.103082595A>G" "" "" "" "DYNC2H1(NM_001080463.2):c.8617A>G (p.M2873V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038134" "0" "50" "11" "102980207" "102980207" "subst" "0" "01804" "DYNC2H1_000390" "g.102980207C>T" "" "" "" "DYNC2H1(NM_001377.3):c.-97C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038135" "0" "30" "11" "102986033" "102986033" "subst" "0" "01804" "DYNC2H1_000391" "g.102986033T>C" "" "" "" "DYNC2H1(NM_001377.3):c.621+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038136" "0" "50" "11" "102991426" "102991426" "subst" "0" "01804" "DYNC2H1_000392" "g.102991426G>T" "" "" "" "DYNC2H1(NM_001377.3):c.1143G>T (p.(Trp381Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038137" "0" "50" "11" "102996010" "102996010" "subst" "4.30374E-6" "01804" "DYNC2H1_000393" "g.102996010A>G" "" "" "" "DYNC2H1(NM_001377.3):c.1843A>G (p.(Ile615Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038138" "0" "50" "11" "103006610" "103006610" "subst" "0" "01804" "DYNC2H1_000394" "g.103006610T>G" "" "" "" "DYNC2H1(NM_001377.3):c.2507T>G (p.(Phe836Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038139" "0" "30" "11" "103022855" "103022855" "del" "0" "01804" "DYNC2H1_000395" "g.103022855del" "" "" "" "DYNC2H1(NM_001377.3):c.2947-10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038140" "0" "30" "11" "103024029" "103024029" "subst" "7.59359E-6" "01804" "DYNC2H1_000396" "g.103024029T>C" "" "" "" "DYNC2H1(NM_001377.3):c.3097-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038141" "0" "50" "11" "103047080" "103047080" "subst" "6.07516E-5" "01804" "DYNC2H1_000189" "g.103047080T>A" "" "" "" "DYNC2H1(NM_001080463.1):c.5791T>A (p.L1931M), DYNC2H1(NM_001377.3):c.5791T>A (p.(Leu1931Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038142" "0" "50" "11" "103048449" "103048449" "subst" "0" "01804" "DYNC2H1_000397" "g.103048449G>T" "" "" "" "DYNC2H1(NM_001377.3):c.6039G>T (p.(Met2013Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038143" "0" "50" "11" "103049866" "103049866" "subst" "0" "01804" "DYNC2H1_000398" "g.103049866T>A" "" "" "" "DYNC2H1(NM_001377.3):c.6251T>A (p.(Ile2084Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038144" "0" "50" "11" "103055627" "103055627" "subst" "3.67299E-5" "01804" "DYNC2H1_000107" "g.103055627T>A" "" "" "" "DYNC2H1(NM_001377.3):c.6480T>A (p.(Asn2160Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038145" "0" "30" "11" "103068798" "103068798" "subst" "6.57817E-6" "01804" "DYNC2H1_000399" "g.103068798A>G" "" "" "" "DYNC2H1(NM_001377.3):c.7839+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038146" "0" "30" "11" "103069951" "103069951" "dup" "0" "01804" "DYNC2H1_000400" "g.103069951dup" "" "" "" "DYNC2H1(NM_001377.3):c.7840-6dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038147" "0" "50" "11" "103074410" "103074410" "subst" "0" "01804" "DYNC2H1_000401" "g.103074410A>C" "" "" "" "DYNC2H1(NM_001377.3):c.8216A>C (p.(Tyr2739Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038148" "0" "50" "11" "103091394" "103091394" "subst" "4.07651E-6" "01804" "DYNC2H1_000402" "g.103091394C>G" "" "" "" "DYNC2H1(NM_001377.3):c.8989C>G (p.(Pro2997Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038149" "0" "50" "11" "103104836" "103104836" "subst" "3.19095E-5" "01804" "DYNC2H1_000403" "g.103104836G>T" "" "" "" "DYNC2H1(NM_001377.3):c.9514G>T (p.(Ala3172Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038150" "0" "30" "11" "103112284" "103112284" "subst" "0" "01804" "DYNC2H1_000404" "g.103112284C>G" "" "" "" "DYNC2H1(NM_001080463.2):c.9840+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038151" "0" "50" "11" "103124089" "103124089" "subst" "0" "01804" "DYNC2H1_000405" "g.103124089G>A" "" "" "" "DYNC2H1(NM_001377.3):c.10118G>A (p.(Arg3373Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038152" "0" "30" "11" "103126825" "103126825" "subst" "4.57855E-6" "01804" "DYNC2H1_000406" "g.103126825T>C" "" "" "" "DYNC2H1(NM_001377.3):c.10327-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038153" "0" "70" "11" "103151083" "103151083" "subst" "0" "01804" "DYNC2H1_000407" "g.103151083C>T" "" "" "" "DYNC2H1(NM_001377.3):c.10702C>T (p.(Gln3568*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001038154" "0" "30" "11" "103173813" "103173813" "subst" "0.00109798" "01804" "DYNC2H1_000408" "g.103173813A>G" "" "" "" "DYNC2H1(NM_001377.3):c.11096-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038155" "0" "50" "11" "103187354" "103187354" "subst" "0" "01804" "DYNC2H1_000409" "g.103187354G>A" "" "" "" "DYNC2H1(NM_001377.3):c.11725+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038156" "0" "30" "11" "103194606" "103194606" "subst" "0.000368179" "01804" "DYNC2H1_000410" "g.103194606A>G" "" "" "" "DYNC2H1(NM_001377.3):c.11935-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049011" "0" "90" "11" "103049776" "103049776" "subst" "0" "03779" "DYNC2H1_000283" "g.103049776G>C" "" "" "" "" "" "Unknown" "" "rs1555057838" "0" "" "" "" "" "pathogenic" "" ## 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 DYNC2H1 ## Count = 579 "{{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}}" "0000036264" "00006794" "90" "2819" "-14" "2819" "-14" "c.2819-14A>G" "r.spl" "p.(=)" "19i" "0000036265" "00006794" "90" "7577" "0" "7577" "0" "c.7577T>G" "r.(?)" "p.(Ile2526Ser)" "47" "0000089049" "00006794" "70" "6332" "0" "6332" "0" "c.6332G>A" "r.(?)" "p.(Gly2111Glu)" "39" "0000089050" "00006794" "70" "8012" "0" "8012" "0" "c.8012T>C" "r.(?)" "p.(Met2671Thr)" "49" "0000089062" "00006794" "70" "5102" "0" "5108" "0" "c.5102_5108del" "r.(?)" "p.(Ala1701Valfs*9)" "33" "0000089063" "00006794" "70" "8012" "0" "8012" "0" "c.8012T>C" "r.(?)" "p.(Met2671Thr)" "49" "0000089064" "00006794" "70" "4699" "0" "4699" "0" "c.4699C>G" "r.(?)" "p.(Leu1567Val)" "31" "0000089065" "00006794" "70" "9844" "0" "9844" "0" "c.9844C>T" "r.(?)" "p.(Arg3282*)" "65" "0000089066" "00006794" "90" "8012" "0" "8012" "0" "c.8012T>C" "r.(?)" "p.(Met2671Thr)" "49" "0000089067" "00006794" "70" "10741" "0" "10741" "0" "c.10741C>T" "r.(?)" "p.(His3581Tyr)" "72" "0000154082" "00006794" "70" "9842" "0" "9842" "0" "c.9842G>A" "r.(?)" "p.(Ser3281Asn)" "65" "0000154083" "00006794" "70" "5087" "0" "5087" "0" "c.5087C>T" "r.(?)" "p.(Thr1696Met)" "33" "0000222102" "00006794" "70" "7175" "0" "7175" "0" "c.7175T>G" "r.(?)" "p.(Leu2392Trp)" "44" "0000222103" "00006794" "70" "11333" "0" "11333" "0" "c.11333C>T" "r.(?)" "p.(Ala3778Val)" "78" "0000247965" "00006794" "10" "6711" "0" "6711" "0" "c.6711A>G" "r.(?)" "p.(Arg2237=)" "" "0000247966" "00006794" "10" "8580" "0" "8580" "0" "c.8580A>G" "r.(?)" "p.(Glu2860=)" "" "0000247988" "00006794" "10" "4238" "0" "4238" "0" "c.4238A>G" "r.(?)" "p.(Lys1413Arg)" "" "0000248003" "00006794" "10" "911" "0" "911" "0" "c.911A>T" "r.(?)" "p.(Gln304Leu)" "" "0000248008" "00006794" "10" "3862" "0" "3862" "0" "c.3862A>G" "r.(?)" "p.(Thr1288Ala)" "" "0000253226" "00006794" "10" "6711" "0" "6711" "0" "c.6711A>G" "r.(?)" "p.(Arg2237=)" "" "0000253227" "00006794" "10" "8580" "0" "8580" "0" "c.8580A>G" "r.(?)" "p.(Glu2860=)" "" "0000253249" "00006794" "10" "4238" "0" "4238" "0" "c.4238A>G" "r.(?)" "p.(Lys1413Arg)" "" "0000253264" "00006794" "10" "911" "0" "911" "0" "c.911A>T" "r.(?)" "p.(Gln304Leu)" "" "0000253269" "00006794" "10" "3862" "0" "3862" "0" "c.3862A>G" "r.(?)" "p.(Thr1288Ala)" "" "0000253460" "00006794" "10" "10482" "0" "10482" "0" "c.10482A>G" "r.(?)" "p.(Gln3494=)" "" "0000253844" "00006794" "10" "5558" "4" "5558" "4" "c.5558+4A>G" "r.spl?" "p.?" "" "0000253845" "00006794" "10" "6477" "14" "6477" "14" "c.6477+14A>T" "r.(=)" "p.(=)" "" "0000254913" "00006794" "30" "1233" "0" "1233" "0" "c.1233A>G" "r.(?)" "p.(Gln411=)" "" "0000255071" "00006794" "30" "8481" "0" "8481" "0" "c.8481A>C" "r.(?)" "p.(Thr2827=)" "" "0000255866" "00006794" "50" "3746" "0" "3746" "0" "c.3746A>T" "r.(?)" "p.(Asp1249Val)" "" "0000256709" "00006794" "50" "12387" "8" "12387" "8" "c.12387+8A>G" "r.(=)" "p.(=)" "" "0000267725" "00006794" "10" "10064" "-15" "10064" "-15" "c.10064-15G>T" "r.(=)" "p.(=)" "" "0000267726" "00006794" "10" "10185" "0" "10185" "0" "c.10185T>G" "r.(?)" "p.(Thr3395=)" "" "0000267727" "00006794" "10" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(His341Tyr)" "" "0000267728" "00006794" "10" "10794" "0" "10794" "0" "c.10794G>A" "r.(?)" "p.(Thr3598=)" "" "0000267729" "00006794" "10" "12117" "0" "12117" "0" "c.12117T>C" "r.(?)" "p.(Asp4039=)" "" "0000267730" "00006794" "10" "12387" "7" "12387" "7" "c.12387+7G>A" "r.(=)" "p.(=)" "" "0000267731" "00006794" "10" "12478" "-6" "12478" "-6" "c.12478-6C>T" "r.(=)" "p.(=)" "" "0000267732" "00006794" "10" "2947" "-10" "2947" "-10" "c.2947-10dup" "r.(=)" "p.(=)" "" "0000267733" "00006794" "10" "3574" "-8" "3574" "-8" "c.3574-8del" "r.(=)" "p.(=)" "" "0000267734" "00006794" "10" "5718" "0" "5718" "0" "c.5718C>A" "r.(?)" "p.(Thr1906=)" "" "0000267735" "00006794" "10" "6951" "0" "6951" "0" "c.6951C>T" "r.(?)" "p.(His2317=)" "" "0000267736" "00006794" "10" "8612" "0" "8612" "0" "c.8612G>A" "r.(?)" "p.(Arg2871Gln)" "" "0000271044" "00006794" "10" "11515" "-6" "11515" "-6" "c.11515-6T>C" "r.(=)" "p.(=)" "" "0000271045" "00006794" "10" "2818" "13" "2818" "13" "c.2818+13T>C" "r.(=)" "p.(=)" "" "0000271046" "00006794" "30" "4728" "0" "4728" "0" "c.4728C>G" "r.(?)" "p.(Asn1576Lys)" "" "0000275836" "00006794" "10" "10064" "-15" "10064" "-15" "c.10064-15G>T" "r.(=)" "p.(=)" "" "0000275837" "00006794" "10" "10185" "0" "10185" "0" "c.10185T>G" "r.(?)" "p.(Thr3395=)" "" "0000275838" "00006794" "10" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(His341Tyr)" "" "0000275839" "00006794" "70" "10347" "0" "10347" "0" "c.10347G>A" "r.(?)" "p.(Glu3449=)" "" "0000275840" "00006794" "10" "10500" "0" "10500" "0" "c.10500C>G" "r.(?)" "p.(Leu3500=)" "" "0000275841" "00006794" "10" "10794" "0" "10794" "0" "c.10794G>A" "r.(?)" "p.(Thr3598=)" "" "0000275842" "00006794" "10" "10885" "0" "10885" "0" "c.10885C>A" "r.(?)" "p.(Arg3629=)" "" "0000275843" "00006794" "30" "10912" "-7" "10912" "-7" "c.10912-7T>G" "r.(=)" "p.(=)" "" "0000275844" "00006794" "10" "11277" "18" "11277" "18" "c.11277+18C>T" "r.(=)" "p.(=)" "" "0000275845" "00006794" "10" "11670" "12" "11670" "12" "c.11670+12C>A" "r.(=)" "p.(=)" "" "0000275846" "00006794" "10" "12117" "0" "12117" "0" "c.12117T>C" "r.(?)" "p.(Asp4039=)" "" "0000275847" "00006794" "10" "12387" "7" "12387" "7" "c.12387+7G>A" "r.(=)" "p.(=)" "" "0000275848" "00006794" "10" "12478" "-6" "12478" "-6" "c.12478-6C>T" "r.(=)" "p.(=)" "" "0000275849" "00006794" "50" "12571" "0" "12571" "0" "c.12571C>T" "r.(?)" "p.(Arg4191Cys)" "" "0000275850" "00006794" "30" "1263" "0" "1263" "0" "c.1263C>A" "r.(?)" "p.(Phe421Leu)" "" "0000275851" "00006794" "90" "12640" "0" "12640" "0" "c.12640C>T" "r.(?)" "p.(Arg4214Ter)" "" "0000275852" "00006794" "50" "12886" "0" "12886" "0" "c.12886G>C" "r.(?)" "p.(Gly4296Arg)" "" "0000275853" "00006794" "70" "1288" "0" "1288" "0" "c.1288C>T" "r.(?)" "p.(Arg430Cys)" "" "0000275854" "00006794" "10" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.(Arg456Gln)" "" "0000275855" "00006794" "10" "21" "0" "21" "0" "c.21C>T" "r.(?)" "p.(Asp7=)" "" "0000275856" "00006794" "10" "2818" "13" "2818" "13" "c.2818+13T>C" "r.(=)" "p.(=)" "" "0000275857" "00006794" "90" "327" "0" "327" "0" "c.327C>G" "r.(?)" "p.(Tyr109Ter)" "" "0000275858" "00006794" "10" "3574" "-8" "3574" "-8" "c.3574-8del" "r.(=)" "p.(=)" "" "0000275859" "00006794" "30" "3660" "0" "3660" "0" "c.3660T>C" "r.(?)" "p.(Pro1220=)" "" "0000275860" "00006794" "50" "3682" "0" "3682" "0" "c.3682C>A" "r.(?)" "p.(Leu1228Ile)" "" "0000275861" "00006794" "10" "4068" "0" "4068" "0" "c.4068C>T" "r.(?)" "p.(Phe1356=)" "" "0000275862" "00006794" "30" "4312" "0" "4312" "0" "c.4312T>C" "r.(?)" "p.(Leu1438=)" "" "0000275863" "00006794" "30" "4728" "0" "4728" "0" "c.4728C>G" "r.(?)" "p.(Asn1576Lys)" "" "0000275864" "00006794" "30" "5511" "0" "5511" "0" "c.5511C>T" "r.(?)" "p.(Asp1837=)" "" "0000275865" "00006794" "50" "553" "0" "553" "0" "c.553C>G" "r.(?)" "p.(Arg185Gly)" "" "0000275866" "00006794" "10" "5559" "-6" "5559" "-6" "c.5559-6T>C" "r.(=)" "p.(=)" "" "0000275867" "00006794" "10" "5718" "0" "5718" "0" "c.5718C>A" "r.(?)" "p.(Thr1906=)" "" "0000275868" "00006794" "10" "6420" "0" "6420" "0" "c.6420T>C" "r.(?)" "p.(Asn2140=)" "" "0000275869" "00006794" "10" "6478" "-17" "6478" "-17" "c.6478-17C>T" "r.(=)" "p.(=)" "" "0000275870" "00006794" "10" "6478" "-6" "6478" "-6" "c.6478-6C>T" "r.(=)" "p.(=)" "" "0000275871" "00006794" "10" "6951" "0" "6951" "0" "c.6951C>T" "r.(?)" "p.(His2317=)" "" "0000275872" "00006794" "10" "7540" "14" "7540" "14" "c.7540+14G>A" "r.(=)" "p.(=)" "" "0000275873" "00006794" "10" "8612" "0" "8612" "0" "c.8612G>A" "r.(?)" "p.(Arg2871Gln)" "" "0000275874" "00006794" "50" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(Val305Met)" "" "0000275875" "00006794" "10" "9353" "7" "9353" "7" "c.9353+7G>A" "r.(=)" "p.(=)" "" "0000275876" "00006794" "50" "9886" "0" "9886" "0" "c.9886G>C" "r.(?)" "p.(Glu3296Gln)" "" "0000322462" "00006794" "30" "195" "7" "195" "7" "c.195+7T>C" "r.(=)" "p.(=)" "" "0000322463" "00006794" "50" "392" "0" "392" "0" "c.392A>G" "r.(?)" "p.(Asp131Gly)" "" "0000322464" "00006794" "50" "1157" "0" "1157" "0" "c.1157C>T" "r.(?)" "p.(Ser386Phe)" "" "0000322465" "00006794" "50" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Cys)" "" "0000322466" "00006794" "50" "1829" "0" "1829" "0" "c.1829T>G" "r.(?)" "p.(Phe610Cys)" "" "0000322468" "00006794" "50" "2581" "0" "2581" "0" "c.2581A>G" "r.(?)" "p.(Ile861Val)" "" "0000322469" "00006794" "30" "2860" "0" "2860" "0" "c.2860G>A" "r.(?)" "p.(Glu954Lys)" "" "0000322470" "00006794" "50" "2935" "0" "2935" "0" "c.2935C>T" "r.(?)" "p.(Arg979Trp)" "" "0000322472" "00006794" "30" "2936" "0" "2936" "0" "c.2936G>A" "r.(?)" "p.(Arg979Gln)" "" "0000322473" "00006794" "50" "2972" "0" "2972" "0" "c.2972A>C" "r.(?)" "p.(Glu991Ala)" "" "0000322474" "00006794" "50" "3665" "0" "3665" "0" "c.3665G>A" "r.(?)" "p.(Gly1222Glu)" "" "0000322476" "00006794" "50" "3920" "0" "3920" "0" "c.3920G>A" "r.(?)" "p.(Cys1307Tyr)" "" "0000322477" "00006794" "50" "5695" "0" "5695" "0" "c.5695G>A" "r.(?)" "p.(Val1899Ile)" "" "0000322479" "00006794" "50" "8726" "0" "8726" "0" "c.8726C>G" "r.(?)" "p.(Ala2909Gly)" "" "0000322480" "00006794" "30" "8767" "0" "8767" "0" "c.8767G>A" "r.(?)" "p.(Val2923Met)" "" "0000322481" "00006794" "30" "8881" "0" "8881" "0" "c.8881G>A" "r.(?)" "p.(Ala2961Thr)" "" "0000322482" "00006794" "90" "9044" "0" "9044" "0" "c.9044A>G" "r.(?)" "p.(Asp3015Gly)" "" "0000322485" "00006794" "50" "11206" "0" "11206" "0" "c.11206C>T" "r.(?)" "p.(Pro3736Ser)" "" "0000322486" "00006794" "50" "11308" "0" "11308" "0" "c.11308G>A" "r.(?)" "p.(Ala3770Thr)" "" "0000322487" "00006794" "50" "11962" "0" "11962" "0" "c.11962C>T" "r.(?)" "p.(Arg3988Cys)" "" "0000322488" "00006794" "50" "12061" "0" "12061" "0" "c.12061G>A" "r.(?)" "p.(Val4021Ile)" "" "0000322489" "00006794" "50" "12745" "0" "12745" "0" "c.12745G>A" "r.(?)" "p.(Val4249Met)" "" "0000336855" "00006794" "10" "12478" "-6" "12478" "-6" "c.12478-6C>T" "r.(=)" "p.(=)" "" "0000336903" "00006794" "10" "2818" "13" "2818" "13" "c.2818+13T>G" "r.(=)" "p.(=)" "" "0000336904" "00006794" "90" "3459" "-1" "3459" "-1" "c.3459-1G>A" "r.spl?" "p.?" "" "0000336906" "00006794" "10" "3660" "0" "3660" "0" "c.3660T>C" "r.(?)" "p.(Pro1220=)" "" "0000336907" "00006794" "10" "4968" "18" "4968" "18" "c.4968+18G>A" "r.(=)" "p.(=)" "" "0000336908" "00006794" "10" "5558" "4" "5558" "4" "c.5558+4A>G" "r.spl?" "p.?" "" "0000336911" "00006794" "50" "8454" "3" "8454" "3" "c.8454+3A>C" "r.spl?" "p.?" "" "0000336912" "00006794" "10" "10064" "-15" "10064" "-15" "c.10064-15G>T" "r.(=)" "p.(=)" "" "0000336914" "00006794" "10" "11277" "18" "11277" "18" "c.11277+18C>T" "r.(=)" "p.(=)" "" "0000336916" "00006794" "10" "12387" "7" "12387" "7" "c.12387+7G>A" "r.(=)" "p.(=)" "" "0000336918" "00006794" "10" "12587" "17" "12587" "17" "c.12587+17A>G" "r.(=)" "p.(=)" "" "0000339228" "00006794" "10" "21" "0" "21" "0" "c.21C>T" "r.(?)" "p.(Asp7=)" "" "0000339229" "00006794" "10" "1233" "0" "1233" "0" "c.1233A>G" "r.(?)" "p.(Gln411=)" "" "0000339230" "00006794" "10" "5718" "0" "5718" "0" "c.5718C>A" "r.(?)" "p.(Thr1906=)" "" "0000339231" "00006794" "10" "6420" "0" "6420" "0" "c.6420T>C" "r.(?)" "p.(Asn2140=)" "" "0000339232" "00006794" "10" "6711" "0" "6711" "0" "c.6711A>G" "r.(?)" "p.(Arg2237=)" "" "0000339233" "00006794" "10" "6951" "0" "6951" "0" "c.6951C>T" "r.(?)" "p.(His2317=)" "" "0000339234" "00006794" "10" "8580" "0" "8580" "0" "c.8580A>G" "r.(?)" "p.(Glu2860=)" "" "0000339235" "00006794" "10" "10185" "0" "10185" "0" "c.10185T>G" "r.(?)" "p.(Thr3395=)" "" "0000339236" "00006794" "10" "10794" "0" "10794" "0" "c.10794G>A" "r.(?)" "p.(Thr3598=)" "" "0000339237" "00006794" "90" "11070" "0" "11070" "0" "c.11070G>A" "r.(?)" "p.(Pro3690=)" "" "0000339238" "00006794" "10" "11670" "12" "11670" "12" "c.11670+12C>A" "r.(=)" "p.(=)" "" "0000339239" "00006794" "10" "12117" "0" "12117" "0" "c.12117T>C" "r.(?)" "p.(Asp4039=)" "" "0000340677" "00006794" "30" "7441" "0" "7441" "0" "c.7441C>A" "r.(?)" "p.(Arg2481=)" "" "0000341403" "00006794" "10" "11060" "0" "11060" "0" "c.11060C>T" "r.(?)" "p.(Ala3687Val)" "" "0000341418" "00006794" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Ala384Val)" "" "0000342332" "00006794" "90" "6973" "0" "6973" "0" "c.6973C>T" "r.(?)" "p.(Arg2325Ter)" "" "0000342476" "00006794" "70" "7985" "0" "7985" "0" "c.7985G>A" "r.(?)" "p.(Arg2662Gln)" "" "0000342536" "00006794" "10" "8612" "0" "8612" "0" "c.8612G>A" "r.(?)" "p.(Arg2871Gln)" "" "0000342604" "00006794" "90" "9313" "0" "9313" "0" "c.9313C>T" "r.(?)" "p.(Arg3105Ter)" "" "0000342711" "00006794" "90" "10594" "0" "10594" "0" "c.10594C>T" "r.(?)" "p.(Arg3532Ter)" "" "0000342872" "00006794" "30" "12598" "0" "12598" "0" "c.12598C>T" "r.(?)" "p.(Arg4200Cys)" "" "0000343542" "00006794" "50" "2993" "0" "2993" "0" "c.2993G>A" "r.(?)" "p.(Arg998Gln)" "" "0000343613" "00006794" "10" "4728" "0" "4728" "0" "c.4728C>G" "r.(?)" "p.(Asn1576Lys)" "" "0000343652" "00006794" "50" "6480" "0" "6480" "0" "c.6480T>A" "r.(?)" "p.(Asn2160Lys)" "" "0000343998" "00006794" "50" "6683" "0" "6683" "0" "c.6683A>G" "r.(?)" "p.(Asp2228Gly)" "" "0000344768" "00006794" "90" "9817" "0" "9817" "0" "c.9817C>T" "r.(?)" "p.(Gln3273Ter)" "" "0000345599" "00006794" "10" "2860" "0" "2860" "0" "c.2860G>A" "r.(?)" "p.(Glu954Lys)" "" "0000345903" "00006794" "70" "7382" "0" "7382" "0" "c.7382G>T" "r.(?)" "p.(Gly2461Val)" "" "0000346456" "00006794" "10" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(His341Tyr)" "" "0000346861" "00006794" "90" "3509" "0" "3509" "0" "c.3509T>G" "r.(?)" "p.(Leu1170Ter)" "" "0000346868" "00006794" "50" "3682" "0" "3682" "0" "c.3682C>A" "r.(?)" "p.(Leu1228Ile)" "" "0000347243" "00006794" "50" "1774" "0" "1774" "0" "c.1774C>T" "r.(?)" "p.(Leu592Phe)" "" "0000347412" "00006794" "10" "4238" "0" "4238" "0" "c.4238A>G" "r.(?)" "p.(Lys1413Arg)" "" "0000348011" "00006794" "50" "8365" "0" "8365" "0" "c.8365T>C" "r.(?)" "p.(Phe2789Leu)" "" "0000349271" "00006794" "10" "3862" "0" "3862" "0" "c.3862A>G" "r.(?)" "p.(Thr1288Ala)" "" "0000349719" "00006794" "90" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Trp179Ter)" "" "0000350000" "00006794" "90" "729" "0" "729" "0" "c.729T>A" "r.(?)" "p.(Tyr243Ter)" "" "0000350006" "00006794" "50" "7718" "0" "7718" "0" "c.7718A>G" "r.(?)" "p.(Tyr2573Cys)" "" "0000350426" "00006794" "50" "7663" "0" "7663" "0" "c.7663G>A" "r.(?)" "p.(Val2555Met)" "" "0000350720" "00006794" "90" "11747" "-1" "11747" "-1" "c.11747-1G>A" "r.spl?" "p.?" "" "0000350809" "00006794" "30" "9568" "-13" "9568" "-13" "c.9568-13C>G" "r.(=)" "p.(=)" "" "0000350810" "00006794" "50" "9710" "-13" "9710" "-13" "c.9710-13T>G" "r.(=)" "p.(=)" "" "0000541817" "00006794" "10" "195" "7" "195" "7" "c.195+7T>C" "r.(=)" "p.(=)" "" "0000541818" "00006794" "30" "371" "0" "371" "0" "c.371A>G" "r.(?)" "p.(Gln124Arg)" "" "0000541819" "00006794" "30" "578" "0" "578" "0" "c.578A>G" "r.(?)" "p.(Glu193Gly)" "" "0000541820" "00006794" "10" "645" "0" "645" "0" "c.645A>G" "r.(?)" "p.(Leu215=)" "" "0000541821" "00006794" "10" "645" "0" "645" "0" "c.645A>G" "r.(?)" "p.(Leu215=)" "" "0000541822" "00006794" "50" "872" "0" "872" "0" "c.872G>T" "r.(?)" "p.(Cys291Phe)" "" "0000541826" "00006794" "30" "1249" "-6" "1249" "-6" "c.1249-6T>C" "r.(=)" "p.(=)" "" "0000541827" "00006794" "30" "1263" "0" "1263" "0" "c.1263C>A" "r.(?)" "p.(Phe421Leu)" "" "0000541828" "00006794" "10" "2454" "0" "2454" "0" "c.2454G>A" "r.(?)" "p.(Glu818=)" "" "0000541829" "00006794" "30" "2512" "0" "2512" "0" "c.2512A>G" "r.(?)" "p.(Thr838Ala)" "" "0000541830" "00006794" "90" "2549" "0" "2549" "0" "c.2549T>A" "r.(?)" "p.(Leu850Ter)" "" "0000541831" "00006794" "90" "2593" "0" "2593" "0" "c.2593C>T" "r.(?)" "p.(Gln865Ter)" "" "0000541832" "00006794" "50" "2612" "0" "2612" "0" "c.2612T>C" "r.(?)" "p.(Leu871Pro)" "" "0000541833" "00006794" "30" "2686" "0" "2686" "0" "c.2686G>T" "r.(?)" "p.(Val896Leu)" "" "0000541834" "00006794" "30" "2947" "-7" "2947" "-7" "c.2947-7C>T" "r.(=)" "p.(=)" "" "0000541835" "00006794" "30" "2947" "-6" "2947" "-6" "c.2947-6C>T" "r.(=)" "p.(=)" "" "0000541836" "00006794" "50" "3170" "0" "3170" "0" "c.3170G>A" "r.(?)" "p.(Arg1057His)" "" "0000541837" "00006794" "50" "3170" "0" "3170" "0" "c.3170G>A" "r.(?)" "p.(Arg1057His)" "" "0000541838" "00006794" "30" "3181" "0" "3181" "0" "c.3181C>G" "r.(?)" "p.(Leu1061Val)" "" "0000541840" "00006794" "10" "3574" "-8" "3574" "-8" "c.3574-8del" "r.(=)" "p.(=)" "" "0000541841" "00006794" "30" "3574" "-7" "3574" "-7" "c.3574-7G>T" "r.(=)" "p.(=)" "" "0000541842" "00006794" "50" "3746" "0" "3746" "0" "c.3746A>T" "r.(?)" "p.(Asp1249Val)" "" "0000541843" "00006794" "30" "4728" "0" "4728" "0" "c.4728C>G" "r.(?)" "p.(Asn1576Lys)" "" "0000541844" "00006794" "30" "4916" "0" "4916" "0" "c.4916C>A" "r.(?)" "p.(Thr1639Lys)" "" "0000541845" "00006794" "30" "4968" "18" "4968" "18" "c.4968+18G>A" "r.(=)" "p.(=)" "" "0000541846" "00006794" "50" "5371" "0" "5371" "0" "c.5371A>G" "r.(?)" "p.(Met1791Val)" "" "0000541847" "00006794" "50" "5473" "0" "5473" "0" "c.5473A>G" "r.(?)" "p.(Ile1825Val)" "" "0000541848" "00006794" "90" "5547" "0" "5547" "0" "c.5547del" "r.(?)" "p.(Phe1849LeufsTer8)" "" "0000541849" "00006794" "70" "5873" "0" "5873" "0" "c.5873A>G" "r.(?)" "p.(Gln1958Arg)" "" "0000541851" "00006794" "50" "6047" "0" "6047" "0" "c.6047A>G" "r.(?)" "p.(Tyr2016Cys)" "" "0000541852" "00006794" "30" "6057" "0" "6057" "0" "c.6057A>G" "r.(?)" "p.(Leu2019=)" "" "0000541854" "00006794" "50" "6170" "0" "6170" "0" "c.6170A>T" "r.(?)" "p.(Asp2057Val)" "" "0000541856" "00006794" "30" "6478" "-6" "6478" "-6" "c.6478-6C>T" "r.(=)" "p.(=)" "" "0000541859" "00006794" "10" "7122" "0" "7122" "0" "c.7122G>A" "r.(?)" "p.(Leu2374=)" "" "0000541860" "00006794" "30" "7143" "0" "7143" "0" "c.7143A>G" "r.(?)" "p.(Val2381=)" "" "0000541861" "00006794" "50" "7343" "0" "7343" "0" "c.7343del" "r.(?)" "p.(Pro2448GlnfsTer7)" "" "0000541862" "00006794" "90" "7577" "0" "7577" "0" "c.7577T>G" "r.(?)" "p.(Ile2526Ser)" "" "0000541863" "00006794" "30" "7651" "0" "7651" "0" "c.7651A>G" "r.(?)" "p.(Ile2551Val)" "" "0000541864" "00006794" "50" "8881" "0" "8881" "0" "c.8881G>A" "r.(?)" "p.(Ala2961Thr)" "" "0000541865" "00006794" "30" "8881" "0" "8881" "0" "c.8881G>A" "r.(?)" "p.(Ala2961Thr)" "" "0000541866" "00006794" "30" "8881" "0" "8881" "0" "c.8881G>A" "r.(?)" "p.(Ala2961Thr)" "" "0000541867" "00006794" "90" "9044" "0" "9044" "0" "c.9044A>G" "r.(?)" "p.(Asp3015Gly)" "" "0000541868" "00006794" "30" "9215" "0" "9215" "0" "c.9215G>A" "r.(?)" "p.(Gly3072Asp)" "" "0000541869" "00006794" "30" "9353" "7" "9353" "7" "c.9353+7G>A" "r.(=)" "p.(=)" "" "0000541870" "00006794" "50" "9739" "0" "9739" "0" "c.9739G>A" "r.(?)" "p.(Glu3247Lys)" "" "0000541871" "00006794" "30" "9749" "0" "9749" "0" "c.9749A>G" "r.(?)" "p.(Gln3250Arg)" "" "0000541872" "00006794" "30" "9960" "0" "9960" "0" "c.9960T>C" "r.(?)" "p.(Ala3320=)" "" "0000541875" "00006794" "50" "10804" "0" "10804" "0" "c.10804G>A" "r.(?)" "p.(Val3602Met)" "" "0000541876" "00006794" "30" "10853" "0" "10853" "0" "c.10853G>A" "r.(?)" "p.(Arg3618His)" "" "0000541877" "00006794" "30" "10855" "0" "10855" "0" "c.10855G>C" "r.(?)" "p.(Asp3619His)" "" "0000541879" "00006794" "10" "11060" "0" "11060" "0" "c.11060C>T" "r.(?)" "p.(Ala3687Val)" "" "0000541880" "00006794" "10" "11060" "0" "11060" "0" "c.11060C>T" "r.(?)" "p.(Ala3687Val)" "" "0000541881" "00006794" "50" "11284" "0" "11284" "0" "c.11284A>G" "r.(?)" "p.(Met3762Val)" "" "0000541883" "00006794" "30" "11403" "7" "11403" "16" "c.11403+7_11403+16del" "r.(=)" "p.(=)" "" "0000541884" "00006794" "10" "11403" "18" "11403" "19" "c.11403+18_11403+19insGGT" "r.(=)" "p.(=)" "" "0000541887" "00006794" "50" "12035" "0" "12035" "0" "c.12035C>T" "r.(?)" "p.(Ser4012Leu)" "" "0000541888" "00006794" "30" "12387" "8" "12387" "8" "c.12387+8A>G" "r.(=)" "p.(=)" "" "0000541889" "00006794" "30" "12599" "0" "12599" "0" "c.12599G>A" "r.(?)" "p.(Arg4200His)" "" "0000541890" "00006794" "30" "12886" "0" "12886" "0" "c.12886G>C" "r.(?)" "p.(Gly4296Arg)" "" "0000541891" "00006794" "50" "12930" "0" "12930" "0" "c.12930C>A" "r.(?)" "p.(Phe4310Leu)" "" "0000612850" "00006794" "30" "3500" "0" "3500" "0" "c.3500A>G" "r.(?)" "p.(His1167Arg)" "" "0000612851" "00006794" "50" "3782" "0" "3782" "0" "c.3782G>C" "r.(?)" "p.(Arg1261Thr)" "" "0000612852" "00006794" "30" "4971" "0" "4971" "0" "c.4971T>C" "r.(?)" "p.(Gly1657=)" "" "0000612853" "00006794" "30" "9505" "0" "9505" "0" "c.9505A>G" "r.(?)" "p.(Ile3169Val)" "" "0000612854" "00006794" "30" "9886" "0" "9886" "0" "c.9886G>C" "r.(?)" "p.(Glu3296Gln)" "" "0000612855" "00006794" "50" "10244" "0" "10244" "0" "c.10244T>A" "r.(?)" "p.(Ile3415Asn)" "" "0000612856" "00006794" "30" "11116" "9" "11116" "9" "c.11116+9G>A" "r.(=)" "p.(=)" "" "0000612858" "00006794" "30" "12027" "0" "12027" "0" "c.12027C>T" "r.(?)" "p.(Ile4009=)" "" "0000622474" "00006794" "30" "1031" "0" "1031" "0" "c.1031T>A" "r.(?)" "p.(Phe344Tyr)" "" "0000622475" "00006794" "50" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Arg490His)" "" "0000622476" "00006794" "50" "1774" "0" "1774" "0" "c.1774C>T" "r.(?)" "p.(Leu592Phe)" "" "0000622477" "00006794" "50" "3665" "0" "3665" "0" "c.3665G>A" "r.(?)" "p.(Gly1222Glu)" "" "0000622478" "00006794" "30" "4719" "0" "4719" "0" "c.4719A>G" "r.(?)" "p.(Gln1573=)" "" "0000622479" "00006794" "50" "5791" "0" "5791" "0" "c.5791T>A" "r.(?)" "p.(Leu1931Met)" "" "0000622480" "00006794" "70" "9353" "1" "9353" "1" "c.9353+1G>A" "r.spl?" "p.?" "" "0000622481" "00006794" "30" "10359" "0" "10359" "0" "c.10359A>T" "r.(?)" "p.(Thr3453=)" "" "0000648061" "00006794" "30" "2860" "0" "2860" "0" "c.2860G>A" "r.(?)" "p.(Glu954Lys)" "" "0000648062" "00006794" "30" "8881" "0" "8881" "0" "c.8881G>A" "r.(?)" "p.(Ala2961Thr)" "" "0000648063" "00006794" "30" "10885" "0" "10885" "0" "c.10885C>A" "r.(=)" "p.(=)" "" "0000656613" "00006794" "70" "2819" "-14" "2819" "-14" "c.2819-14A>G" "r.(=)" "p.(=)" "" "0000656614" "00006794" "70" "10516" "0" "10516" "0" "c.10516G>A" "r.(?)" "p.(Ala3506Thr)" "" "0000667957" "00006794" "90" "12605" "0" "12606" "0" "c.12605_12606dup" "r.(?)" "p.(Asp4203Trpfs*7)" "" "0000667958" "00006794" "90" "9836" "0" "9836" "0" "c.9836C>G" "r.(?)" "p.(Ser3279*)" "" "0000667959" "00006794" "90" "9836" "0" "9836" "0" "c.9836C>G" "r.(?)" "p.(Ser3279*)" "" "0000667960" "00006794" "90" "9836" "0" "9836" "0" "c.9836C>G" "r.(?)" "p.(Ser3279*)" "" "0000667961" "00006794" "90" "7987" "0" "7987" "0" "c.7987A>C" "r.(?)" "p.(Thr2663Pro)" "" "0000667962" "00006794" "90" "6632" "0" "6632" "0" "c.6632A>T" "r.(?)" "p.(Glu2211Val)" "" "0000667963" "00006794" "90" "12716" "0" "12716" "0" "c.12716T>G" "r.(?)" "p.(Leu4239Arg)" "" "0000669096" "00006794" "30" "2860" "0" "2860" "0" "c.2860G>A" "r.(?)" "p.(Glu954Lys)" "" "0000678970" "00006794" "50" "5455" "0" "5455" "0" "c.5455C>T" "r.(?)" "p.(His1819Tyr)" "" "0000678971" "00006794" "50" "7376" "0" "7376" "0" "c.7376T>A" "r.(?)" "p.(Ile2459Asn)" "" "0000678972" "00006794" "70" "10045" "0" "10045" "0" "c.10045C>T" "r.(?)" "p.(Arg3349Ter)" "" "0000678973" "00006794" "30" "10064" "-7" "10064" "-7" "c.10064-7T>A" "r.(=)" "p.(=)" "" "0000678974" "00006794" "90" "10606" "0" "10606" "0" "c.10606C>T" "r.(?)" "p.(Arg3536Ter)" "" "0000690858" "00006794" "90" "3059" "0" "3059" "0" "c.3059T>G" "r.(?)" "p.(Leu1020Ter)" "" "0000690859" "00006794" "50" "10669" "0" "10669" "0" "c.10669T>C" "r.(?)" "p.(Ser3557Pro)" "" "0000690861" "00006794" "50" "11284" "0" "11284" "0" "c.11284A>G" "r.(?)" "p.(Met3762Val)" "" "0000690862" "00006794" "90" "11445" "0" "11445" "0" "c.11445G>A" "r.(?)" "p.(Trp3815Ter)" "" "0000723062" "00006794" "30" "456" "0" "456" "0" "c.456A>G" "r.(?)" "p.(Ser152=)" "" "0000723063" "00006794" "70" "1847" "0" "1852" "0" "c.1847_1852del" "r.(?)" "p.(Ile616_Leu617del)" "" "0000723064" "00006794" "50" "3682" "0" "3682" "0" "c.3682C>A" "r.(?)" "p.(Leu1228Ile)" "" "0000723065" "00006794" "30" "5508" "0" "5508" "0" "c.5508A>G" "r.(?)" "p.(Lys1836=)" "" "0000723066" "00006794" "30" "7198" "0" "7198" "0" "c.7198A>G" "r.(?)" "p.(Ile2400Val)" "" "0000723067" "00006794" "50" "7597" "0" "7597" "0" "c.7597C>T" "r.(?)" "p.(Arg2533Cys)" "" "0000723068" "00006794" "50" "7709" "0" "7709" "0" "c.7709A>G" "r.(?)" "p.(Asp2570Gly)" "" "0000723069" "00006794" "30" "7866" "0" "7866" "0" "c.7866C>T" "r.(?)" "p.(Asn2622=)" "" "0000723070" "00006794" "90" "9044" "0" "9044" "0" "c.9044A>G" "r.(?)" "p.(Asp3015Gly)" "" "0000723071" "00006794" "50" "9070" "0" "9070" "0" "c.9070A>T" "r.(?)" "p.(Met3024Leu)" "" "0000723072" "00006794" "50" "10120" "0" "10120" "0" "c.10120C>T" "r.(?)" "p.(Arg3374Cys)" "" "0000723073" "00006794" "90" "10849" "0" "10849" "0" "c.10849dup" "r.(?)" "p.(Ile3617Asnfs*3)" "" "0000723074" "00006794" "30" "12028" "0" "12028" "0" "c.12028G>A" "r.(?)" "p.(Ala4010Thr)" "" "0000729920" "00006794" "90" "6035" "0" "6035" "0" "c.6035C>T" "r.(?)" "p.(Ala2012Val)" "" "0000729921" "00006794" "90" "6035" "0" "6035" "0" "c.6035C>T" "r.(?)" "p.(Ala2012Val)" "" "0000729922" "00006794" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Ala384Val)" "" "0000729923" "00006794" "90" "6035" "0" "6035" "0" "c.6035C>T" "r.(?)" "p.(Ala2012Val)" "" "0000760754" "00006794" "50" "9353" "1" "9353" "1" "c.9353+1del" "r.spl" "p.?" "" "0000760755" "00006794" "50" "11438" "0" "11438" "0" "c.11438G>A" "r.(?)" "p.(Arg3813His)" "" "0000760806" "00006794" "70" "10606" "0" "10606" "0" "c.10606C>T" "r.(?)" "p.(Arg3536Ter)" "" "0000760807" "00006794" "70" "4268" "0" "4268" "0" "c.4268G>A" "r.(?)" "p.(Arg1423His)" "" "0000760987" "00006794" "90" "5984" "0" "5984" "0" "c.5984C>T" "r.(?)" "p.(Ala1995Val)" "" "0000760998" "00006794" "90" "10606" "0" "10606" "0" "c.10606C>T" "r.(?)" "p.(Arg3536Ter)" "" "0000790965" "00006794" "50" "7594" "0" "7594" "0" "c.7594C>T" "r.(?)" "p.(Arg2532Trp)" "" "0000790966" "00006794" "50" "7172" "0" "7172" "0" "c.7172A>G" "r.(?)" "p.(Asn2391Ser)" "" "0000791219" "00006794" "70" "7987" "0" "7987" "0" "c.7987A>C" "r.(?)" "p.(Thr2663Pro)" "49" "0000791257" "00006794" "70" "12716" "0" "12716" "0" "c.12716T>G" "r.(?)" "p.(Leu4239Arg)" "89" "0000794192" "00006794" "70" "2818" "1" "2818" "1" "c.2818+1G>C" "r.spl?" "p.?" "" "0000794193" "00006794" "70" "7561" "0" "7561" "0" "c.7561G>C" "r.(?)" "p.(Asp2521His)" "" "0000804673" "00006794" "50" "2289" "0" "2289" "0" "c.2289G>A" "r.(?)" "p.(Met763Ile)" "" "0000804674" "00006794" "30" "2439" "0" "2439" "0" "c.2439T>C" "r.(?)" "p.(Phe813=)" "" "0000804675" "00006794" "50" "3015" "0" "3015" "0" "c.3015A>G" "r.(?)" "p.(Leu1005=)" "" "0000804676" "00006794" "30" "3097" "-4" "3097" "-4" "c.3097-4A>G" "r.spl?" "p.?" "" "0000804677" "00006794" "30" "3419" "0" "3419" "0" "c.3419G>T" "r.(?)" "p.(Gly1140Val)" "" "0000804678" "00006794" "50" "3457" "0" "3457" "0" "c.3457C>T" "r.(?)" "p.(Arg1153Trp)" "" "0000804679" "00006794" "30" "5449" "0" "5449" "0" "c.5449A>G" "r.(?)" "p.(Met1817Val)" "" "0000804680" "00006794" "30" "6478" "-17" "6478" "-17" "c.6478-17C>T" "r.(=)" "p.(=)" "" "0000804681" "00006794" "30" "7319" "0" "7319" "0" "c.7319C>T" "r.(?)" "p.(Thr2440Met)" "" "0000804682" "00006794" "50" "7342" "0" "7342" "0" "c.7342C>T" "r.(?)" "p.(Pro2448Ser)" "" "0000804683" "00006794" "90" "7919" "0" "7919" "0" "c.7919T>C" "r.(?)" "p.(Ile2640Thr)" "" "0000804684" "00006794" "50" "7923" "0" "7923" "0" "c.7923T>A" "r.(?)" "p.(Asp2641Glu)" "" "0000804685" "00006794" "50" "7967" "0" "7967" "0" "c.7967G>A" "r.(?)" "p.(Arg2656His)" "" "0000804686" "00006794" "30" "9297" "0" "9297" "0" "c.9297T>C" "r.(?)" "p.(Tyr3099=)" "" "0000804687" "00006794" "50" "10121" "0" "10121" "0" "c.10121G>A" "r.(?)" "p.(Arg3374His)" "" "0000804688" "00006794" "70" "11069" "0" "11069" "0" "c.11069C>T" "r.(?)" "p.(Pro3690Leu)" "" "0000804689" "00006794" "50" "11963" "0" "11963" "0" "c.11963G>A" "r.(?)" "p.(Arg3988His)" "" "0000818655" "00006794" "90" "7966" "0" "7966" "0" "c.7966C>T" "r.(?)" "p.(Arg2656Cys)" "49" "0000818656" "00006794" "90" "9865" "0" "9865" "0" "c.9865G>A" "r.(?)" "p.(Asp3289Asn)" "65" "0000818657" "00006794" "90" "7438" "-2" "7438" "-2" "c.7438-2A>G" "r.spl?" "p.?" "45i" "0000818658" "00006794" "90" "7985" "0" "7985" "0" "c.7985G>A" "r.(?)" "p.(Arg2662Gln)" "49" "0000818659" "00006794" "90" "10063" "2" "10063" "2" "c.10063+2T>G" "r.spl?" "p.?" "66i" "0000818660" "00006794" "90" "10343" "0" "10343" "0" "c.10343T>C" "r.(?)" "p.(Leu3448Pro)" "68" "0000818661" "00006794" "90" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Cys)" "6" "0000818662" "00006794" "90" "3059" "0" "3059" "0" "c.3059T>G" "r.(?)" "p.(Leu1020*)" "21" "0000818663" "00006794" "90" "7774" "0" "7782" "0" "c.7774_7782del" "r.(?)" "p.(Leu2592_Pro2594del)" "48" "0000818664" "00006794" "90" "6910" "0" "6910" "0" "c.6910G>A" "r.(?)" "p.(Ala2304Thr)" "43" "0000818665" "00006794" "90" "9710" "-2" "9710" "-2" "c.9710-2A>G" "r.spl?" "p.?" "62i" "0000818666" "00006794" "90" "1949" "0" "1949" "0" "c.1949T>A" "r.(?)" "p.(Ile650Asn)" "13" "0000818667" "00006794" "90" "9565" "0" "9565" "0" "c.9565C>T" "r.(?)" "p.(Gln3189*)" "61" "0000818668" "00006794" "90" "3682" "0" "3682" "0" "c.3682C>A" "r.(?)" "p.(Leu1228Ile)" "25" "0000818669" "00006794" "90" "9353" "1" "9353" "1" "c.9353+1G>A" "r.spl?" "p.?" "59i" "0000818670" "00006794" "90" "7277" "0" "7277" "0" "c.7277G>T" "r.(?)" "p.(Arg2426Leu)" "44" "0000818671" "00006794" "90" "9044" "0" "9044" "0" "c.9044A>G" "r.(?)" "p.(Asp3015Gly)" "57" "0000818672" "00006794" "90" "10120" "0" "10120" "0" "c.10120C>T" "r.(?)" "p.(Arg3374Cys)" "67" "0000818673" "00006794" "90" "9760" "0" "9764" "0" "c.9760_9764del" "r.(?)" "p.(Lys3254*)" "63" "0000818674" "00006794" "90" "12850" "0" "12850" "0" "c.12850A>G" "r.(?)" "p.(Arg4284Gly)" "90" "0000818675" "00006794" "90" "7643" "0" "7643" "0" "c.7643T>C" "r.(?)" "p.(Phe2548Ser)" "47" "0000818676" "00006794" "90" "6634" "-2" "6634" "-2" "c.6634-2A>G" "r.spl?" "p.?" "41i" "0000818677" "00006794" "90" "1759" "0" "1759" "0" "c.1759C>T" "r.(?)" "p.(Arg587Cys)" "12" "0000818678" "00006794" "90" "10343" "0" "10343" "0" "c.10343T>C" "r.(?)" "p.(Leu3448Pro)" "68" "0000818679" "00006794" "90" "4964" "0" "4964" "0" "c.4964A>G" "r.(?)" "p.(Tyr1655Cys)" "32" "0000818680" "00006794" "90" "4699" "0" "4699" "0" "c.4699C>G" "r.(?)" "p.(Leu1567Val)" "31" "0000818681" "00006794" "90" "6883" "0" "6883" "0" "c.6883T>C" "r.(?)" "p.(Cys2295Arg)" "42" "0000818682" "00006794" "90" "3095" "0" "3095" "0" "c.3095del" "r.(?)" "p.(Gln1032Argfs*4)" "21" "0000818683" "00006794" "90" "6265" "0" "6265" "0" "c.6265A>G" "r.(?)" "p.(Asn2089Asp)" "39" "0000818684" "00006794" "90" "10921" "0" "10921" "0" "c.10921C>T" "r.(?)" "p.(Pro3641Ser)" "75" "0000818685" "00006794" "90" "1306" "0" "1306" "0" "c.1306G>T" "r.(?)" "p.(Glu436*)" "9" "0000818686" "00006794" "90" "2225" "0" "2225" "0" "c.2225T>G" "r.(?)" "p.(Met742Arg)" "16" "0000818687" "00006794" "90" "8012" "0" "8012" "0" "c.8012T>C" "r.(?)" "p.(Met2671Thr)" "49" "0000818688" "00006794" "90" "12431" "0" "12431" "0" "c.12431C>G" "r.(?)" "p.(Pro4144Arg)" "86" "0000818689" "00006794" "90" "8434" "0" "8434" "0" "c.8434del" "r.(?)" "p.(Ser2812Profs*5)" "52" "0000818690" "00006794" "90" "3353" "0" "3353" "0" "c.3353del" "r.(?)" "p.(Ser1118Ilefs*46)" "23" "0000818691" "00006794" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Trp)" "2" "0000818692" "00006794" "90" "1953" "0" "1953" "0" "c.1953G>A" "r.(=)" "p.(=)" "13" "0000818693" "00006794" "90" "9044" "0" "9044" "0" "c.9044A>G" "r.(?)" "p.(Asp3015Gly)" "57" "0000818694" "00006794" "90" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Arg360*)" "7" "0000818695" "00006794" "90" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Cys)" "6" "0000818696" "00006794" "90" "195" "0" "195" "0" "c.195G>T" "r.(=)" "p.(=)" "1" "0000818697" "00006794" "90" "5983" "0" "5983" "0" "c.5983G>A" "r.(?)" "p.(Ala1995Thr)" "38" "0000818698" "00006794" "90" "4073" "0" "4073" "0" "c.4073G>A" "r.(?)" "p.(Arg1358His)" "26" "0000818699" "00006794" "90" "5612" "0" "5612" "0" "c.5612del" "r.(?)" "p.(Thr1871Lysfs*3)" "36" "0000818700" "00006794" "90" "9045" "0" "9045" "0" "c.9045T>G" "r.(?)" "p.(Asp3015Glu)" "57" "0000818701" "00006794" "90" "3097" "-4" "3097" "-4" "c.3097-4A>G" "r.spl?" "p.?" "21i" "0000818702" "00006794" "90" "12827" "0" "12827" "0" "c.12827T>C" "r.(?)" "p.(Leu4276Ser)" "90" "0000818703" "00006794" "90" "8590" "0" "8590" "0" "c.8590del" "r.(?)" "p.(Ala2864Hisfs*10)" "54" "0000818704" "00006794" "90" "2341" "0" "2341" "0" "c.2341T>G" "r.(?)" "p.(Tyr781Asp)" "16" "0000818705" "00006794" "90" "5129" "0" "5129" "0" "c.5129T>A" "r.(?)" "p.(Val1710Asp)" "33" "0000818706" "00006794" "90" "10219" "0" "10219" "0" "c.10219C>T" "r.(?)" "p.(Arg3407*)" "67" "0000818707" "00006794" "90" "6116" "0" "6116" "0" "c.6116G>A" "r.(?)" "p.(Arg2039His)" "38" "0000818708" "00006794" "90" "1657" "0" "1660" "0" "c.1657_1660del" "r.(?)" "p.(Leu553Valfs*18)" "11" "0000818709" "00006794" "90" "4625" "0" "4625" "0" "c.4625C>T" "r.(?)" "p.(Ala1542Val)" "31" "0000818710" "00006794" "90" "10594" "0" "10594" "0" "c.10594C>T" "r.(?)" "p.(Arg3532*)" "70" "0000818711" "00006794" "90" "7577" "0" "7577" "0" "c.7577T>G" "r.(?)" "p.(Ile2526Ser)" "47" "0000818712" "00006794" "90" "6480" "0" "6480" "0" "c.6480T>A" "r.(?)" "p.(Asn2160Lys)" "41" "0000818713" "00006794" "90" "8769" "0" "8770" "0" "c.8769_8770del" "r.(?)" "p.(Leu2924Thrfs*2)" "55" "0000818714" "00006794" "90" "6271" "0" "6271" "0" "c.6271A>G" "r.(?)" "p.(Asn2091Asp)" "39" "0000818715" "00006794" "90" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Cys)" "6" "0000818716" "00006794" "90" "10163" "0" "10163" "0" "c.10163C>T" "r.(?)" "p.(Pro3388Leu)" "67" "0000818717" "00006794" "90" "767" "-2" "767" "-2" "c.767-2A>G" "r.spl?" "p.?" "5i" "0000818718" "00006794" "90" "12460" "0" "12460" "0" "c.12460C>T" "r.(?)" "p.(Arg4154Cys)" "86" "0000818719" "00006794" "90" "9353" "1" "9353" "1" "c.9353+1G>A" "r.spl?" "p.?" "59i" "0000818720" "00006794" "90" "7268" "0" "7268" "0" "c.7268C>A" "r.(?)" "p.(Ser2423Tyr)" "44" "0000818721" "00006794" "90" "7967" "0" "7967" "0" "c.7967G>T" "r.(?)" "p.(Arg2656Leu)" "49" "0000818722" "00006794" "90" "10594" "0" "10594" "0" "c.10594C>T" "r.(?)" "p.(Arg3532*)" "70" "0000818723" "00006794" "90" "5983" "0" "5983" "0" "c.5983G>A" "r.(?)" "p.(Ala1995Thr)" "38" "0000818724" "00006794" "90" "11284" "0" "11284" "0" "c.11284A>G" "r.(?)" "p.(Met3762Val)" "78" "0000818725" "00006794" "90" "5558" "2" "5558" "2" "c.5558+2T>C" "r.spl?" "p.?" "35i" "0000818726" "00006794" "90" "10126" "0" "10126" "0" "c.10126T>C" "r.(?)" "p.(Phe3376Leu)" "67" "0000818727" "00006794" "90" "11291" "0" "11291" "0" "c.11291A>G" "r.(?)" "p.(Gln3764Arg)" "78" "0000818728" "00006794" "90" "10624" "0" "10624" "0" "c.10624C>T" "r.(?)" "p.(Gln3542*)" "70" "0000818729" "00006794" "90" "5876" "0" "5876" "0" "c.5876T>A" "r.(?)" "p.(Ile1959Asn)" "38" "0000818730" "00006794" "90" "11734" "0" "11737" "0" "c.11734_11737del" "r.(?)" "p.(Arg3912Phefs*26)" "81" "0000818731" "00006794" "90" "6574" "0" "6574" "0" "c.6574C>T" "r.(?)" "p.(Leu2192Phe)" "41" "0000818732" "00006794" "90" "10163" "0" "10163" "0" "c.10163C>T" "r.(?)" "p.(Pro3388Leu)" "67" "0000818733" "00006794" "90" "10594" "0" "10594" "0" "c.10594C>T" "r.(?)" "p.(Arg3532*)" "70" "0000818734" "00006794" "90" "4162" "0" "4170" "0" "c.4162_4170dup" "r.(?)" "p.(Val1388_Thr1390dup)" "27" "0000818735" "00006794" "90" "625" "0" "625" "0" "c.625T>A" "r.(?)" "p.(Phe209Ile)" "5" "0000818736" "00006794" "90" "4162" "0" "4170" "0" "c.4162_4170dup" "r.(?)" "p.(Val1388_Thr1390dup)" "27" "0000818737" "00006794" "90" "5983" "0" "5983" "0" "c.5983G>A" "r.(?)" "p.(Ala1995Thr)" "38" "0000818738" "00006794" "90" "8729" "0" "8729" "0" "c.8729T>C" "r.(?)" "p.(Leu2910Pro)" "55" "0000818739" "00006794" "90" "10063" "2" "10063" "2" "c.10063+2T>G" "r.spl?" "p.?" "66i" "0000818740" "00006794" "90" "5925" "0" "5925" "0" "c.5925del" "r.(?)" "p.(Val1976Leufs*17)" "38" "0000818741" "00006794" "90" "7663" "0" "7663" "0" "c.7663G>A" "r.(?)" "p.(Val2555Met)" "47" "0000818742" "00006794" "90" "12850" "0" "12850" "0" "c.12850A>G" "r.(?)" "p.(Arg4284Gly)" "90" "0000818743" "00006794" "90" "8145" "0" "8145" "0" "c.8145C>A" "r.(?)" "p.(Tyr2715*)" "50" "0000818744" "00006794" "90" "1289" "0" "1289" "0" "c.1289G>A" "r.(?)" "p.(Arg430His)" "9" "0000818745" "00006794" "90" "8311" "1" "8311" "1" "c.8311+1G>A" "r.spl?" "p.?" "51i" "0000818746" "00006794" "90" "1847" "0" "1852" "0" "c.1847_1852del" "r.(?)" "p.(Ile616_Leu617del)" "12" "0000818747" "00006794" "90" "625" "0" "625" "0" "c.625T>A" "r.(?)" "p.(Phe209Ile)" "5" "0000818748" "00006794" "90" "7577" "0" "7577" "0" "c.7577T>G" "r.(?)" "p.(Ile2526Ser)" "47" "0000818749" "00006794" "90" "8512" "0" "8512" "0" "c.8512C>T" "r.(?)" "p.(Arg2838*)" "53" "0000818750" "00006794" "90" "10343" "0" "10343" "0" "c.10343T>C" "r.(?)" "p.(Leu3448Pro)" "68" "0000818751" "00006794" "90" "12850" "0" "12850" "0" "c.12850A>G" "r.(?)" "p.(Arg4284Gly)" "90" "0000818752" "00006794" "90" "6614" "0" "6614" "0" "c.6614G>A" "r.(?)" "p.(Arg2205His)" "41" "0000818753" "00006794" "90" "6866" "0" "6866" "0" "c.6866T>C" "r.(?)" "p.(Leu2289Pro)" "42" "0000818754" "00006794" "90" "10939" "0" "10939" "0" "c.10939del" "r.(?)" "p.(Leu3647Serfs*38)" "75" "0000818755" "00006794" "90" "4553" "0" "4553" "0" "c.4553G>A" "r.(?)" "p.(Cys1518Tyr)" "30" "0000818756" "00006794" "90" "12487" "0" "12490" "0" "c.12487_12490del" "r.(?)" "p.(Asp4163Lysfs*45)" "87" "0000818757" "00006794" "90" "193" "0" "193" "0" "c.193A>C" "r.(?)" "p.(Thr65Pro)" "1" "0000818758" "00006794" "90" "5876" "0" "5876" "0" "c.5876T>A" "r.(?)" "p.(Ile1959Asn)" "38" "0000818759" "00006794" "90" "7525" "0" "7525" "0" "c.7525T>C" "r.(?)" "p.(Tyr2509His)" "46" "0000818760" "00006794" "90" "7409" "0" "7409" "0" "c.7409C>G" "r.(?)" "p.(Ala2470Gly)" "45" "0000818761" "00006794" "90" "7984" "0" "7984" "0" "c.7984C>T" "r.(?)" "p.(Arg2662Trp)" "49" "0000818762" "00006794" "90" "9044" "0" "9044" "0" "c.9044A>G" "r.(?)" "p.(Asp3015Gly)" "57" "0000818763" "00006794" "90" "6545" "0" "6545" "0" "c.6545G>A" "r.(?)" "p.(Cys2182Tyr)" "41" "0000818764" "00006794" "90" "6910" "0" "6910" "0" "c.6910G>A" "r.(?)" "p.(Ala2304Thr)" "43" "0000818765" "00006794" "90" "10606" "0" "10606" "0" "c.10606C>T" "r.(?)" "p.(Arg3536*)" "70" "0000818766" "00006794" "90" "8070" "0" "8070" "0" "c.8070C>G" "r.(?)" "p.(Phe2690Leu)" "49" "0000818767" "00006794" "90" "8197" "0" "8197" "0" "c.8197G>T" "r.(?)" "p.(Gly2733Cys)" "50" "0000818768" "00006794" "90" "9044" "0" "9044" "0" "c.9044A>G" "r.(?)" "p.(Asp3015Gly)" "57" "0000818769" "00006794" "90" "6265" "0" "6265" "0" "c.6265A>G" "r.(?)" "p.(Asn2089Asp)" "39" "0000818770" "00006794" "90" "7441" "0" "7441" "0" "c.7441C>T" "r.(?)" "p.(Arg2481*)" "46" "0000818771" "00006794" "90" "7112" "0" "7112" "0" "c.7112C>T" "r.(?)" "p.(Thr2371Ile)" "43" "0000818772" "00006794" "90" "8050" "0" "8050" "0" "c.8050G>T" "r.(?)" "p.(Gly2684*)" "49" "0000818773" "00006794" "90" "12663" "0" "12664" "0" "c.12663_12664insT" "r.(?)" "p.(Ile4222Tyrfs*2)" "88" "0000818774" "00006794" "90" "7409" "0" "7409" "0" "c.7409C>G" "r.(?)" "p.(Ala2470Gly)" "45" "0000818775" "00006794" "90" "1759" "0" "1759" "0" "c.1759C>T" "r.(?)" "p.(Arg587Cys)" "12" "0000818776" "00006794" "90" "4820" "0" "4820" "0" "c.4820T>A" "r.(?)" "p.(Ile1607Asn)" "32" "0000818777" "00006794" "90" "327" "0" "327" "0" "c.327C>G" "r.(?)" "p.(Tyr109*)" "2" "0000818778" "00006794" "90" "4267" "0" "4267" "0" "c.4267C>T" "r.(?)" "p.(Arg1423Cys)" "28" "0000818779" "00006794" "90" "11618" "0" "11618" "0" "c.11618del" "r.(?)" "p.(Ser3873Ilefs*66)" "80" "0000818780" "00006794" "90" "7594" "0" "7594" "0" "c.7594C>T" "r.(?)" "p.(Arg2532Trp)" "47" "0000818781" "00006794" "90" "4418" "0" "4418" "0" "c.4418T>C" "r.(?)" "p.(Ile1473Thr)" "29" "0000818782" "00006794" "90" "6614" "0" "6614" "0" "c.6614G>A" "r.(?)" "p.(Arg2205His)" "41" "0000818783" "00006794" "90" "11850" "0" "11850" "0" "c.11850C>G" "r.(?)" "p.(Tyr3950*)" "82" "0000818784" "00006794" "90" "625" "0" "625" "0" "c.625T>A" "r.(?)" "p.(Phe209Ile)" "5" "0000818785" "00006794" "90" "2341" "0" "2341" "0" "c.2341T>G" "r.(?)" "p.(Tyr781Asp)" "16" "0000818786" "00006794" "90" "5087" "0" "5087" "0" "c.5087C>T" "r.(?)" "p.(Thr1696Met)" "33" "0000818787" "00006794" "90" "7945" "0" "7945" "0" "c.7945G>T" "r.(?)" "p.(Gly2649Cys)" "49" "0000818788" "00006794" "90" "9044" "0" "9044" "0" "c.9044A>G" "r.(?)" "p.(Asp3015Gly)" "57" "0000818789" "00006794" "90" "4267" "0" "4267" "0" "c.4267C>T" "r.(?)" "p.(Arg1423Cys)" "28" "0000818790" "00006794" "90" "6562" "0" "6562" "0" "c.6562T>C" "r.(?)" "p.(Phe2188Leu)" "41" "0000818791" "00006794" "90" "5983" "0" "5983" "0" "c.5983G>A" "r.(?)" "p.(Ala1995Thr)" "38" "0000818792" "00006794" "90" "1360" "2" "1360" "2" "c.1360+2del" "r.spl?" "p.?" "9i" "0000818793" "00006794" "90" "625" "0" "625" "0" "c.625T>A" "r.(?)" "p.(Phe209Ile)" "5" "0000818794" "00006794" "90" "5984" "0" "5984" "0" "c.5984C>T" "r.(?)" "p.(Ala1995Val)" "38" "0000818795" "00006794" "90" "7967" "0" "7967" "0" "c.7967G>A" "r.(?)" "p.(Arg2656His)" "49" "0000818796" "00006794" "90" "9044" "0" "9044" "0" "c.9044A>G" "r.(?)" "p.(Asp3015Gly)" "57" "0000818797" "00006794" "90" "3682" "0" "3682" "0" "c.3682C>A" "r.(?)" "p.(Leu1228Ile)" "25" "0000818887" "00006794" "70" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Ala384Val)" "8" "0000818888" "00006794" "70" "4162" "0" "4170" "0" "c.4162_4170dup" "r.(?)" "p.(Val1388_Thr1390dup)" "27" "0000818889" "00006794" "70" "9044" "0" "9044" "0" "c.9044A>G" "r.(?)" "p.(Asp3015Gly)" "57" "0000818890" "00006794" "70" "4458" "0" "4458" "0" "c.4458del" "r.(?)" "p.(Phe1486Leufs*11)" "29" "0000818891" "00006794" "70" "7984" "0" "7984" "0" "c.7984C>T" "r.(?)" "p.(Arg2662Trp)" "49" "0000818892" "00006794" "70" "5793" "0" "5793" "0" "c.5793G>C" "r.(?)" "p.(Leu1931Phe)" "37" "0000818893" "00006794" "70" "10163" "0" "10163" "0" "c.10163C>T" "r.(?)" "p.(Pro3388Leu)" "67" "0000818894" "00006794" "70" "4267" "0" "4267" "0" "c.4267C>T" "r.(?)" "p.(Arg1423Cys)" "28" "0000818895" "00006794" "70" "2040" "0" "2040" "0" "c.2040dup" "r.(?)" "p.(Ala681Cysfs*3)" "14" "0000818896" "00006794" "70" "3847" "0" "3847" "0" "c.3847G>C" "r.(?)" "p.(Asp1283His)" "26" "0000818897" "00006794" "70" "7112" "0" "7112" "0" "c.7112C>T" "r.(?)" "p.(Thr2371Ile)" "43" "0000818898" "00006794" "70" "12917" "0" "12917" "0" "c.12917G>A" "r.(?)" "p.(Gly4306Glu)" "90" "0000818899" "00006794" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "5" "0000818900" "00006794" "70" "9044" "0" "9044" "0" "c.9044A>G" "r.(?)" "p.(Asp3015Gly)" "57" "0000818910" "00006794" "70" "6161" "0" "6161" "0" "c.6161G>C" "r.(?)" "p.(Cys2054Ser)" "39" "0000818914" "00006794" "70" "9044" "0" "9044" "0" "c.9044A>G" "r.(?)" "p.(Asp3015Gly)" "57" "0000818916" "00006794" "70" "6047" "0" "6047" "0" "c.6047A>G" "r.(?)" "p.(Tyr2016Cys)" "38" "0000818918" "00006794" "70" "5984" "0" "5984" "0" "c.5984C>T" "r.(?)" "p.(Ala1995Val)" "38" "0000826453" "00006794" "50" "7277" "0" "7277" "0" "c.7277G>T" "r.(?)" "p.(Arg2426Leu)" "44" "0000826454" "00006794" "50" "7967" "0" "7967" "0" "c.7967G>A" "r.(?)" "p.(Arg2656His)" "49" "0000830148" "00006794" "70" "11186" "0" "11186" "0" "c.11186C>A" "r.(?)" "p.(Pro3729His)" "" "0000830149" "00006794" "70" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Ter)" "" "0000830150" "00006794" "70" "8145" "0" "8146" "0" "c.8145_8146delinsAT" "r.(?)" "p.(TyrGln2715Ter)" "" "0000830151" "00006794" "70" "11437" "0" "11437" "0" "c.11437C>T" "r.(?)" "p.(Arg3813Cys)" "" "0000843650" "00006794" "70" "6140" "-5" "6140" "-5" "c.6140-5A>G" "r.(6139_6140insauag)" "p.(Val2048Argfs*9)" "" "0000843652" "00006794" "70" "9171" "0" "9174" "0" "c.9171_9174del" "r.(?)" "p.(Glu3058*)" "" "0000843653" "00006794" "70" "12640" "0" "12640" "0" "c.12640C>T" "r.(?)" "p.(Arg4214*)" "" "0000843654" "00006794" "70" "6140" "-5" "6140" "-5" "c.6140-5A>G" "r.(6139_6140insauag)" "p.(Val2048Argfs*9)" "" "0000843655" "00006794" "70" "6140" "-5" "6140" "-5" "c.6140-5A>G" "r.(6139_6140insauag)" "p.(Val2048Argfs*9)" "" "0000843656" "00006794" "90" "0" "0" "0" "0" "c.-144_*610{0}" "r.0?" "p.0?" "_1_90_" "0000843657" "00006794" "70" "1306" "0" "1306" "0" "c.1306G>T" "r.(?)" "p.(Glu436*)" "" "0000843658" "00006794" "70" "11560" "0" "11560" "0" "c.11560T>G" "r.(?)" "p.(Trp3854Gly)" "" "0000843711" "00006794" "70" "11308" "0" "11308" "0" "c.11308G>A" "r.(?)" "p.(Ala3770Thr)" "" "0000843712" "00006794" "70" "3181" "0" "3181" "0" "c.3181C>G" "r.(?)" "p.(Leu1061Val)" "" "0000843715" "00006794" "70" "9171" "0" "9174" "0" "c.9171_9174del" "r.(?)" "p.(Glu3058*)" "" "0000843716" "00006794" "70" "11474" "0" "11474" "0" "c.11474C>T" "r.(?)" "p.(Thr3825Ile)" "" "0000843717" "00006794" "70" "4699" "0" "4699" "0" "c.4699C>G" "r.(?)" "p.(Leu1567Val)" "" "0000843718" "00006794" "70" "503" "-9" "503" "-9" "c.503-9C>G" "r.spl" "p.?" "" "0000852652" "00006794" "30" "2550" "0" "2550" "0" "c.2550G>A" "r.(?)" "p.(Leu850=)" "" "0000852653" "00006794" "50" "4900" "0" "4900" "0" "c.4900A>G" "r.(?)" "p.(Met1634Val)" "" "0000852654" "00006794" "30" "5695" "0" "5695" "0" "c.5695G>A" "r.(?)" "p.(Val1899Ile)" "" "0000852655" "00006794" "30" "7893" "0" "7893" "0" "c.7893C>T" "r.(?)" "p.(His2631=)" "" "0000852656" "00006794" "50" "9814" "0" "9814" "0" "c.9814T>A" "r.(?)" "p.(Leu3272Ile)" "" "0000852658" "00006794" "10" "12587" "17" "12587" "17" "c.12587+17A>G" "r.(=)" "p.(=)" "" "0000862111" "00006794" "30" "2797" "0" "2797" "0" "c.2797T>A" "r.(?)" "p.(Ser933Thr)" "" "0000862112" "00006794" "30" "2974" "0" "2974" "0" "c.2974G>A" "r.(?)" "p.(Asp992Asn)" "" "0000862113" "00006794" "30" "3138" "0" "3138" "0" "c.3138C>G" "r.(?)" "p.(Ile1046Met)" "" "0000862114" "00006794" "50" "3778" "0" "3778" "0" "c.3778A>G" "r.(?)" "p.(Ile1260Val)" "" "0000862115" "00006794" "90" "3793" "0" "3793" "0" "c.3793C>T" "r.(?)" "p.(Arg1265Cys)" "" "0000862116" "00006794" "50" "6307" "0" "6307" "0" "c.6307T>A" "r.(?)" "p.(Ser2103Thr)" "" "0000862117" "00006794" "30" "7847" "0" "7847" "0" "c.7847T>C" "r.(?)" "p.(Ile2616Thr)" "" "0000862118" "00006794" "30" "7893" "0" "7893" "0" "c.7893C>T" "r.(?)" "p.(His2631=)" "" "0000862119" "00006794" "30" "10885" "0" "10885" "0" "c.10885C>A" "r.(?)" "p.(Arg3629=)" "" "0000862120" "00006794" "30" "11260" "0" "11260" "0" "c.11260G>A" "r.(?)" "p.(Gly3754Arg)" "" "0000862121" "00006794" "30" "11724" "0" "11724" "0" "c.11724C>T" "r.(?)" "p.(Asn3908=)" "" "0000868144" "00006794" "70" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Ala384Val)" "" "0000868149" "00006794" "90" "6342" "0" "6345" "0" "c.6342_6345del" "r.(?)" "p.(Phe2114Leufs*11)" "" "0000868266" "00006794" "90" "4351" "0" "4351" "0" "c.4351C>T" "r.(?)" "p.(Gln1451*)" "" "0000868267" "00006794" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Ala384Val)" "" "0000889379" "00006794" "90" "1255" "0" "1255" "0" "c.1255C>T" "r.(?)" "p.(Gln419*)" "" "0000889380" "00006794" "70" "1288" "0" "1288" "0" "c.1288C>T" "r.(?)" "p.(Arg430Cys)" "" "0000889381" "00006794" "10" "3574" "-8" "3574" "-8" "c.3574-8del" "r.(=)" "p.(=)" "" "0000889382" "00006794" "30" "4719" "0" "4719" "0" "c.4719A>G" "r.(?)" "p.(Gln1573=)" "" "0000889383" "00006794" "30" "7198" "0" "7198" "0" "c.7198A>G" "r.(?)" "p.(Ile2400Val)" "" "0000889384" "00006794" "30" "10359" "0" "10359" "0" "c.10359A>T" "r.(?)" "p.(Thr3453=)" "" "0000889385" "00006794" "50" "12103" "0" "12103" "0" "c.12103G>T" "r.(?)" "p.(Gly4035Cys)" "" "0000913386" "00006794" "30" "5177" "0" "5177" "0" "c.5177G>A" "r.(?)" "p.(Arg1726Gln)" "" "0000913387" "00006794" "30" "5642" "0" "5642" "0" "c.5642G>A" "r.(?)" "p.(Arg1881Lys)" "" "0000913388" "00006794" "30" "8833" "-3" "8833" "-3" "c.8833-3T>C" "r.spl?" "p.?" "" "0000925242" "00006794" "70" "960" "0" "960" "0" "c.960del" "r.(?)" "p.(Pro321Glnfs*48)" "" "0000925244" "00006794" "30" "5335" "-4" "5335" "-4" "c.5335-4T>C" "r.spl?" "p.?" "" "0000925245" "00006794" "70" "7706" "0" "7706" "0" "c.7706C>T" "r.(?)" "p.(Ser2569Leu)" "" "0000929741" "00006794" "30" "3097" "-4" "3097" "-4" "c.3097-4A>G" "r.spl?" "p.?" "" "0000929742" "00006794" "30" "5442" "0" "5442" "0" "c.5442C>T" "r.(?)" "p.(=)" "" "0000929743" "00006794" "30" "8249" "0" "8249" "0" "c.8249C>A" "r.(?)" "p.(Pro2750Gln)" "" "0000929744" "00006794" "30" "8365" "0" "8365" "0" "c.8365T>C" "r.(?)" "p.(Phe2789Leu)" "" "0000929745" "00006794" "30" "12028" "0" "12028" "0" "c.12028G>A" "r.(?)" "p.(Ala4010Thr)" "" "0000949484" "00006794" "50" "1774" "0" "1774" "0" "c.1774C>T" "r.(?)" "p.(Leu592Phe)" "" "0000949485" "00006794" "50" "11437" "0" "11437" "0" "c.11437C>T" "r.(?)" "p.(Arg3813Cys)" "" "0000949486" "00006794" "50" "12857" "0" "12857" "0" "c.12857G>C" "r.(?)" "p.(Arg4286Pro)" "" "0000966037" "00006794" "70" "2345" "1" "2345" "1" "c.2345+1G>T" "r.spl?" "p.?" "" "0000966038" "00006794" "30" "4312" "0" "4312" "0" "c.4312T>C" "r.(?)" "p.(Leu1438=)" "" "0000966039" "00006794" "30" "5793" "0" "5793" "0" "c.5793G>C" "r.(?)" "p.(Leu1931Phe)" "" "0000966040" "00006794" "70" "8457" "0" "8457" "0" "c.8457A>G" "r.(?)" "p.(Ile2819Met)" "" "0000966042" "00006794" "30" "9749" "0" "9749" "0" "c.9749A>G" "r.(?)" "p.(Gln3250Arg)" "" "0000979268" "00006794" "70" "3509" "0" "3509" "0" "c.3509T>G" "r.(?)" "p.(Leu1170Ter)" "" "0000979269" "00006794" "50" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "" "0000979270" "00006794" "50" "5570" "0" "5570" "0" "c.5570del" "r.(?)" "p.(Thr1857Asnfs*10)" "" "0000979271" "00006794" "50" "6971" "0" "6971" "0" "c.6971C>T" "r.(?)" "p.(Ser2324Phe)" "" "0000979272" "00006794" "50" "9969" "0" "9969" "0" "c.9969A>C" "r.(?)" "p.(Leu3323Phe)" "" "0000979273" "00006794" "50" "10120" "0" "10120" "0" "c.10120C>T" "r.(?)" "p.(Arg3374Cys)" "" "0000979274" "00006794" "70" "10343" "0" "10343" "0" "c.10343T>C" "r.(?)" "p.(Leu3448Pro)" "" "0000979275" "00006794" "30" "10716" "9" "10716" "9" "c.10716+9C>A" "r.(=)" "p.(=)" "" "0000979276" "00006794" "50" "10914" "0" "10914" "0" "c.10914T>G" "r.(?)" "p.(Ile3638Met)" "" "0000979277" "00006794" "90" "11070" "0" "11070" "0" "c.11070G>A" "r.(?)" "p.(Pro3690=)" "" "0000979278" "00006794" "30" "11670" "13" "11670" "13" "c.11670+13A>G" "r.(=)" "p.(=)" "" "0000979279" "00006794" "30" "11747" "-10" "11747" "-10" "c.11747-10A>T" "r.(=)" "p.(=)" "" "0000998647" "00006794" "30" "4719" "0" "4719" "0" "c.4719A>G" "r.(?)" "p.(Gln1573=)" "" "0000998648" "00006794" "50" "5547" "0" "5547" "0" "c.5547del" "r.(?)" "p.(Phe1849LeufsTer8)" "" "0000998649" "00006794" "50" "5738" "0" "5738" "0" "c.5738C>G" "r.(?)" "p.(Thr1913Ser)" "" "0000998650" "00006794" "30" "5821" "0" "5821" "0" "c.5821G>C" "r.(?)" "p.(Ala1941Pro)" "" "0000998651" "00006794" "50" "9977" "0" "9977" "0" "c.9977G>A" "r.(?)" "p.(Arg3326His)" "" "0001014702" "00006794" "50" "10853" "0" "10853" "0" "c.10853G>A" "r.(?)" "p.(Arg3618His)" "" "0001014703" "00006794" "50" "11206" "0" "11206" "0" "c.11206C>T" "r.(?)" "p.(Pro3736Ser)" "" "0001025805" "00006794" "50" "4718" "0" "4718" "0" "c.4718A>C" "r.(?)" "p.(Gln1573Pro)" "" "0001025806" "00006794" "50" "8617" "0" "8617" "0" "c.8617A>G" "r.(?)" "p.(Met2873Val)" "" "0001038134" "00006794" "50" "-97" "0" "-97" "0" "c.-97C>T" "r.(?)" "p.(=)" "" "0001038135" "00006794" "30" "621" "9" "621" "9" "c.621+9T>C" "r.(=)" "p.(=)" "" "0001038136" "00006794" "50" "1143" "0" "1143" "0" "c.1143G>T" "r.(?)" "p.(Trp381Cys)" "" "0001038137" "00006794" "50" "1843" "0" "1843" "0" "c.1843A>G" "r.(?)" "p.(Ile615Val)" "" "0001038138" "00006794" "50" "2507" "0" "2507" "0" "c.2507T>G" "r.(?)" "p.(Phe836Cys)" "" "0001038139" "00006794" "30" "2947" "-10" "2947" "-10" "c.2947-10del" "r.(=)" "p.(=)" "" "0001038140" "00006794" "30" "3097" "-3" "3097" "-3" "c.3097-3T>C" "r.spl?" "p.?" "" "0001038141" "00006794" "50" "5791" "0" "5791" "0" "c.5791T>A" "r.(?)" "p.(Leu1931Met)" "" "0001038142" "00006794" "50" "6039" "0" "6039" "0" "c.6039G>T" "r.(?)" "p.(Met2013Ile)" "" "0001038143" "00006794" "50" "6251" "0" "6251" "0" "c.6251T>A" "r.(?)" "p.(Ile2084Asn)" "" "0001038144" "00006794" "50" "6480" "0" "6480" "0" "c.6480T>A" "r.(?)" "p.(Asn2160Lys)" "" "0001038145" "00006794" "30" "7839" "6" "7839" "6" "c.7839+6A>G" "r.(=)" "p.(=)" "" "0001038146" "00006794" "30" "7840" "-6" "7840" "-6" "c.7840-6dup" "r.(=)" "p.(=)" "" "0001038147" "00006794" "50" "8216" "0" "8216" "0" "c.8216A>C" "r.(?)" "p.(Tyr2739Ser)" "" "0001038148" "00006794" "50" "8989" "0" "8989" "0" "c.8989C>G" "r.(?)" "p.(Pro2997Ala)" "" "0001038149" "00006794" "50" "9514" "0" "9514" "0" "c.9514G>T" "r.(?)" "p.(Ala3172Ser)" "" "0001038150" "00006794" "30" "9840" "8" "9840" "8" "c.9840+8C>G" "r.(=)" "p.(=)" "" "0001038151" "00006794" "50" "10139" "0" "10139" "0" "c.10139G>A" "r.(?)" "p.(Arg3380Lys)" "" "0001038152" "00006794" "30" "10348" "-10" "10348" "-10" "c.10348-10T>C" "r.(=)" "p.(=)" "" "0001038153" "00006794" "70" "10723" "0" "10723" "0" "c.10723C>T" "r.(?)" "p.(Gln3575*)" "" "0001038154" "00006794" "30" "11117" "-9" "11117" "-9" "c.11117-9A>G" "r.(=)" "p.(=)" "" "0001038155" "00006794" "50" "11746" "5" "11746" "5" "c.11746+5G>A" "r.spl?" "p.?" "" "0001038156" "00006794" "30" "11956" "-8" "11956" "-8" "c.11956-8A>G" "r.(=)" "p.(=)" "" "0001049011" "00006794" "90" "6161" "0" "6161" "0" "c.6161G>C" "r.(?)" "p.(Cys2054Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 226 "{{screeningid}}" "{{variantid}}" "0000016450" "0000036264" "0000016450" "0000036265" "0000058474" "0000089049" "0000058474" "0000089050" "0000058484" "0000089062" "0000058484" "0000089063" "0000058485" "0000089064" "0000058485" "0000089065" "0000058486" "0000089066" "0000058486" "0000089067" "0000095514" "0000154082" "0000095514" "0000154083" "0000132916" "0000222102" "0000132916" "0000222103" "0000291372" "0000648061" "0000291373" "0000648062" "0000291374" "0000648063" "0000304508" "0000667957" "0000304508" "0000667962" "0000304509" "0000667958" "0000304510" "0000667959" "0000304511" "0000667960" "0000304512" "0000667961" "0000304512" "0000667963" "0000305408" "0000669096" "0000332638" "0000729920" "0000332639" "0000729921" "0000332640" "0000729922" "0000332641" "0000729923" "0000360680" "0000760754" "0000360681" "0000760755" "0000360725" "0000760806" "0000360726" "0000760807" "0000360874" "0000760987" "0000360874" "0000760998" "0000378256" "0000790965" "0000378256" "0000790966" "0000378464" "0000791219" "0000378464" "0000791257" "0000380948" "0000794192" "0000380948" "0000794193" "0000389560" "0000818655" "0000389560" "0000818656" "0000389561" "0000818657" "0000389561" "0000818658" "0000389562" "0000818659" "0000389562" "0000818660" "0000389563" "0000818661" "0000389564" "0000818662" "0000389564" "0000818663" "0000389565" "0000818664" "0000389565" "0000818665" "0000389566" "0000818666" "0000389566" "0000818667" "0000389567" "0000818668" "0000389567" "0000818669" "0000389568" "0000818670" "0000389568" "0000818671" "0000389569" "0000818672" "0000389569" "0000818673" "0000389570" "0000818674" "0000389570" "0000818675" "0000389571" "0000818676" "0000389571" "0000818677" "0000389572" "0000818678" "0000389572" "0000818679" "0000389573" "0000818680" "0000389573" "0000818681" "0000389574" "0000818682" "0000389574" "0000818683" "0000389575" "0000818684" "0000389575" "0000818685" "0000389576" "0000818686" "0000389576" "0000818687" "0000389577" "0000818688" "0000389577" "0000818689" "0000389578" "0000818690" "0000389578" "0000818691" "0000389579" "0000818692" "0000389579" "0000818693" "0000389580" "0000818694" "0000389580" "0000818695" "0000389581" "0000818696" "0000389581" "0000818697" "0000389582" "0000818698" "0000389582" "0000818699" "0000389583" "0000818700" "0000389583" "0000818701" "0000389584" "0000818702" "0000389584" "0000818703" "0000389585" "0000818704" "0000389585" "0000818705" "0000389586" "0000818706" "0000389586" "0000818707" "0000389587" "0000818708" "0000389587" "0000818709" "0000389588" "0000818710" "0000389588" "0000818711" "0000389589" "0000818712" "0000389589" "0000818713" "0000389590" "0000818714" "0000389590" "0000818715" "0000389591" "0000818716" "0000389591" "0000818717" "0000389592" "0000818718" "0000389592" "0000818719" "0000389593" "0000818720" "0000389593" "0000818721" "0000389594" "0000818722" "0000389594" "0000818723" "0000389595" "0000818724" "0000389595" "0000818725" "0000389596" "0000818726" "0000389596" "0000818727" "0000389597" "0000818728" "0000389597" "0000818729" "0000389598" "0000818730" "0000389598" "0000818731" "0000389599" "0000818732" "0000389599" "0000818733" "0000389600" "0000818734" "0000389600" "0000818735" "0000389601" "0000818736" "0000389601" "0000818737" "0000389602" "0000818738" "0000389602" "0000818739" "0000389603" "0000818740" "0000389603" "0000818741" "0000389604" "0000818742" "0000389604" "0000818743" "0000389605" "0000818744" "0000389605" "0000818745" "0000389606" "0000818746" "0000389606" "0000818747" "0000389607" "0000818748" "0000389607" "0000818749" "0000389608" "0000818750" "0000389608" "0000818751" "0000389609" "0000818752" "0000389609" "0000818753" "0000389610" "0000818754" "0000389610" "0000818755" "0000389611" "0000818756" "0000389611" "0000818757" "0000389612" "0000818758" "0000389612" "0000818759" "0000389613" "0000818760" "0000389613" "0000818761" "0000389614" "0000818762" "0000389615" "0000818763" "0000389615" "0000818764" "0000389616" "0000818765" "0000389616" "0000818766" "0000389617" "0000818767" "0000389617" "0000818768" "0000389618" "0000818769" "0000389618" "0000818770" "0000389619" "0000818771" "0000389619" "0000818772" "0000389620" "0000818773" "0000389620" "0000818774" "0000389621" "0000818775" "0000389621" "0000818776" "0000389622" "0000818777" "0000389622" "0000818778" "0000389623" "0000818779" "0000389623" "0000818780" "0000389624" "0000818781" "0000389624" "0000818782" "0000389625" "0000818783" "0000389625" "0000818784" "0000389626" "0000818785" "0000389626" "0000818786" "0000389627" "0000818787" "0000389627" "0000818788" "0000389628" "0000818789" "0000389628" "0000818790" "0000389629" "0000818791" "0000389630" "0000818792" "0000389630" "0000818793" "0000389631" "0000818794" "0000389631" "0000818795" "0000389632" "0000818796" "0000389632" "0000818797" "0000389682" "0000818887" "0000389683" "0000818888" "0000389684" "0000818889" "0000389685" "0000818890" "0000389686" "0000818891" "0000389687" "0000818892" "0000389688" "0000818893" "0000389689" "0000818894" "0000389690" "0000818895" "0000389691" "0000818896" "0000389692" "0000818897" "0000389693" "0000818898" "0000389694" "0000818899" "0000389695" "0000818900" "0000389705" "0000818910" "0000389706" "0000818914" "0000389707" "0000818916" "0000389708" "0000818918" "0000395215" "0000826453" "0000395215" "0000826454" "0000397964" "0000830148" "0000397964" "0000830149" "0000397965" "0000830150" "0000397965" "0000830151" "0000407149" "0000843650" "0000407149" "0000843652" "0000407151" "0000843653" "0000407151" "0000843654" "0000407152" "0000843655" "0000407152" "0000843656" "0000407153" "0000843657" "0000407153" "0000843658" "0000407195" "0000843711" "0000407195" "0000843712" "0000407196" "0000843715" "0000407196" "0000843716" "0000407197" "0000843717" "0000407197" "0000843718" "0000411118" "0000868144" "0000411118" "0000868149" "0000411227" "0000868266" "0000411227" "0000868267"