### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ANO5) # 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}}" "ANO5" "anoctamin 5" "11" "p15.1" "unknown" "LRG_868" "UD_132085373561" "" "https://www.LOVD.nl/ANO5" "" "1" "27337" "203859" "608662" "1" "1" "1" "1" "Alias GDD1, TMEM16E.\r\nThis database is one of the gene variant databases from the:\r\nWe gratefully acknowledge the previous work of Veronique Bolduc and Talita Conte as a curator of the ANO5 database." "" "g" "https://databases.lovd.nl/shared/refseq/ANO5_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "-1" "" "-1" "00001" "2010-02-10 00:00:00" "00006" "2020-05-26 15:13:30" "00006" "2025-09-24 08:32:36" ## 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}}" "00002584" "ANO5" "transcript variant 1" "001" "NM_213599.2" "" "NP_998764.1" "" "" "" "-317" "6344" "2742" "22214722" "22304913" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00141" "LGMD2" "dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2)" "" "" "" "" "" "00006" "2013-06-10 21:06:19" "00006" "2021-12-11 13:56:28" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "01273" "hCK" "hyperCKemia (hCK, elevated serum creatine phosphokinase)" "AD" "123320" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01482" "GDD" "dysplasia, gnathodiaphyseal (GDD)" "AD" "166260" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03021" "LGMDR12;LGMD2L" "dystrophy, muscular, limb-girdle, autosomal recessive, type 12 (LGMD2L)" "AR" "611307" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-01-12 20:55:34" "03309" "MMD3" "dystrophy, muscular, Miyoshi, type 3" "AR" "613319" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04285" "LGMDR1;LGMD2A" "dystrophy, muscular, limb-girdle, recessive, type 1" "AR" "253600" "" "" "" "00006" "2015-06-19 21:52:10" "00006" "2022-07-14 10:58:45" "05106" "MPD" "myopathy, distal (MPD)" "" "" "" "" "" "00006" "2015-12-08 01:43:19" "" "" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ANO5" "01482" "ANO5" "03021" "ANO5" "03309" ## Individuals ## Do not remove or alter this header ## ## Count = 595 "{{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}}" "00065234" "" "" "" "2" "" "00006" "Fichna ESHG2016 P10.20" "3-generation family, 2 affecteds (2M)" "M" "no" "Poland" "" "0" "" "" "" "" "00073766" "" "" "" "8" "" "01606" "{PMID:Duong 2016:27068316}, {DOI:Duong 2016:10.1016/j.oooo.2016.01.014}" "3-generation family, 8 affetecds (4F, 4M), case 1 (PatII2)" "M" "" "Germany;Italy" ">41y" "0" "" "" "" "27068316-FamPatII2" "00074345" "" "" "" "1" "" "00006" "Fichna ESHG2016 P10.20" "" "" "no" "Poland" "" "0" "" "" "" "" "00074346" "" "" "" "1" "" "00006" "Fichna ESHG2016 P10.20" "" "" "no" "Poland" "" "0" "" "" "" "" "00074347" "" "" "" "1" "" "00006" "Fichna ESHG2016 P10.20" "" "" "no" "Poland" "" "0" "" "" "" "" "00074348" "" "" "" "1" "" "00006" "Fichna ESHG2016 P10.20" "" "" "no" "Poland" "" "0" "" "" "" "" "00074349" "" "" "" "1" "" "00006" "Fichna ESHG2016 P10.20" "" "" "no" "Poland" "" "0" "" "" "" "" "00074350" "" "" "" "1" "" "00006" "Fichna ESHG2016 P10.20" "" "" "no" "Poland" "" "0" "" "" "" "" "00078730" "" "" "" "17" "" "00006" "{PMID:Akasaka 1969:5816667}" "4-generation family 17 affecteds" "" "" "Japan" "" "0" "" "" "" "" "00078731" "" "" "" "1" "" "00006" "{PMID:Tsutsumi 2004:15124103}" "father of 15124103_AAs" "M" "" "United States" "" "0" "" "" "African American" "" "00078732" "" "" "" "1" "" "00006" "{PMID:Tsutsumi 2004:15124103}" "son of 15124103_AAf" "M" "" "United States" "" "0" "" "" "African American" "" "00078733" "" "" "" "1" "" "00006" "{PMID:Jarry 2007:17008331}" "family 5 affected siblings, parents first-degree cousins" "F" "yes" "Canada" ">68y" "0" "" "" "French Canadian" "" "00078734" "" "" "" "1" "" "00006" "{PMID:Jarry 2007:17008331}" "family 5 affected siblings, parents first-degree cousins" "M" "yes" "Canada" ">67y" "0" "" "" "French Canadian" "" "00078735" "" "" "" "1" "" "00006" "{PMID:Jarry 2007:17008331}" "family 5 affected siblings, parents first-degree cousins" "M" "yes" "Canada" ">65y" "0" "" "" "French Canadian" "" "00078736" "" "" "" "1" "" "00006" "{PMID:Jarry 2007:17008331}" "family 5 affected siblings, parents first-degree cousins" "M" "yes" "Canada" ">47y" "0" "" "" "French Canadian" "" "00078737" "" "" "" "1" "" "00006" "{PMID:Jarry 2007:17008331}" "family 5 affected siblings, parents first-degree cousins" "M" "yes" "Canada" "" "0" "" "" "French Canadian" "" "00078738" "" "" "" "1" "" "00006" "{PMID:Bolduc 2010:20096397}" "family affected brother and sister" "M" "" "Canada" ">43y" "0" "" "" "French Canadian" "" "00078739" "" "" "" "1" "" "00006" "{PMID:Bolduc 2010:20096397}" "family affected brother and sister" "F" "" "Canada" ">61y" "0" "" "" "French Canadian" "" "00078740" "" "" "" "1" "" "00006" "{PMID:Bolduc 2010:20096397}" "" "F" "" "Canada" ">64y" "0" "" "" "French Canadian" "" "00078741" "" "" "" "1" "" "00006" "{PMID:Jaiswal 2007:17132147}, {PMID:Mahjneh 2010:20692837}" "family 2 affected brothers" "M" "" "Finland" ">44y" "0" "" "" "" "" "00078742" "" "" "" "1" "" "00006" "{PMID:Jaiswal 2007:17132147}, {PMID:Mahjneh 2010:20692837}" "family 2 affected brothers" "M" "" "Finland" ">50y" "0" "" "" "" "" "00078743" "" "" "" "1" "" "00006" "{PMID:Linssen 1998:9673985}" "family 3 affected brothers" "M" "" "Netherlands" ">72y" "0" "" "" "" "" "00078744" "" "" "" "1" "" "00006" "{PMID:Linssen 1998:9673985}" "family 3 affected brothers" "M" "" "Netherlands" ">67y" "0" "" "" "" "" "00078745" "" "" "" "1" "" "00006" "{PMID:Linssen 1998:9673985}" "family 3 affected brothers" "M" "" "Netherlands" ">53y" "0" "" "" "" "" "00078746" "" "" "" "1" "" "00006" "{PMID:Bolduc 2010:20096397}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00078747" "" "" "" "2" "" "00006" "{PMID:Bolduc 2010:20096397}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00078748" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "" "00078749" "" "" "" "1" "" "00006" "Bolduc ASHG2011 A114" "" "" "" "" "" "0" "" "" "" "" "00078750" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "2-generation family, 2 affected brothers" "M" "" "United Kingdom (Great Britain)" ">61y" "0" "" "" "" "" "00078751" "" "" "" "1" "" "00006" "" "2-generation family, 2 affected brothers" "M" "" "United Kingdom (Great Britain)" "68y" "0" "" "" "" "" "00078752" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "" "M" "" "United Kingdom (Great Britain)" ">50y" "0" "" "" "" "" "00078753" "" "" "" "1" "" "00006" "{PMID:Hicks 2011:21186264}" "" "M" "" "United Kingdom (Great Britain)" ">45y" "0" "" "" "" "" "00078754" "" "" "" "1" "" "00006" "{PMID:Hicks 2011:21186264}" "" "M" "" "United Kingdom (Great Britain)" ">68y" "0" "" "" "" "" "00078755" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "2-generation family, 2 affected brothers" "M" "" "United Kingdom (Great Britain)" ">37y" "0" "" "" "" "" "00078756" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "2-generation family, 2 affected brothers" "M" "" "United Kingdom (Great Britain)" ">43y" "0" "" "" "" "" "00078757" "" "" "" "1" "" "00006" "{PMID:Hicks 2011:21186264}" "" "M" "" "United Kingdom (Great Britain)" ">61y" "0" "" "" "" "" "00078758" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "2-generation family, 2 affected sisters" "F" "" "United Kingdom (Great Britain)" ">54y" "0" "" "" "" "" "00078759" "" "" "" "1" "" "00006" "{PMID:Hicks 2011:21186264}" "2-generation family, 2 affected sisters" "F" "" "United Kingdom (Great Britain)" ">57y" "0" "" "" "" "" "00078760" "" "" "" "1" "" "00006" "{PMID:Hicks 2011:21186264}" "" "M" "" "United Kingdom (Great Britain)" ">56y" "0" "" "" "" "" "00078761" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "" "M" "" "United Kingdom (Great Britain)" ">47y" "0" "" "" "" "" "00078762" "" "" "" "1" "" "00006" "{PMID:Hicks 2011:21186264}" "" "M" "" "United Kingdom (Great Britain)" ">55y" "0" "" "" "" "" "00078763" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "" "M" "" "United Kingdom (Great Britain)" ">40y" "0" "" "" "" "" "00078764" "" "" "" "1" "" "00006" "{PMID:Hicks 2011:21186264}" "" "M" "" "United Kingdom (Great Britain)" ">58y" "0" "" "" "" "" "00078765" "" "" "" "1" "" "00006" "{PMID:Hicks 2011:21186264}" "2-generation family, 2 affected brothers" "M" "" "Germany" ">49y" "0" "" "" "" "" "00078766" "" "" "" "1" "" "00006" "{PMID:Hicks 2011:21186264}" "2-generation family, 2 affected brothers" "M" "" "Germany" ">48y" "0" "" "" "" "" "00078767" "" "" "" "1" "" "00006" "{PMID:Hicks 2011:21186264}" "" "M" "" "Germany" ">35y" "0" "" "" "" "" "00078768" "" "" "" "1" "" "00006" "{PMID:Hicks 2011:21186264}" "2-generation family, 2 affected brothers" "M" "" "Germany" ">58y" "0" "" "" "" "" "00078769" "" "" "" "1" "" "00006" "{PMID:Hicks 2011:21186264}" "2-generation family, 2 affected brothers" "M" "" "Germany" ">56y" "0" "" "" "" "" "00078770" "" "" "" "1" "" "00006" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Finland" "" "0" "" "" "" "" "00078771" "" "" "" "1" "" "00006" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "F" "" "Finland" "" "0" "" "" "" "" "00078772" "" "" "" "1" "" "00006" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Finland" "" "0" "" "" "" "" "00078773" "" "" "" "1" "" "00006" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Finland" "" "0" "" "" "" "" "00078774" "" "" "" "1" "" "00006" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Finland" "" "0" "" "" "" "" "00078775" "" "" "" "1" "" "00006" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "family, 3 affecteds" "M" "" "United States" "" "0" "" "" "German" "" "00078776" "" "" "" "1" "" "00006" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "family, 3 affecteds" "M" "" "United States" "" "0" "" "" "German" "" "00078777" "" "" "" "1" "" "00006" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "family, 3 affecteds" "M" "" "United States" "" "0" "" "" "German" "" "00078778" "" "" "" "1" "" "00006" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Finland" "" "0" "" "" "" "" "00078779" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "" "" "00078780" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "" "" "00078781" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "" "00078782" "" "" "" "1" "" "00464" "{PMID:Milone 2011:21820307}" "" "F" "" "Ireland;Poland" "" "0" "" "" "" "" "00078783" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "white" "" "00078784" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "white" "" "00078785" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "white" "" "00078786" "" "" "" "1" "" "00006" "{PMID:Deschauer 2011:21739273}" "" "F" "" "Germany" "" "0" "" "" "" "" "00078787" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "" "M" "" "Germany" "" "0" "" "" "" "" "00078788" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "brother of 21739273-Pat3b" "M" "" "Germany" "" "0" "" "" "" "" "00078789" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "sister of 21739273-Pat3a" "F" "" "Germany" "" "0" "" "" "" "" "00078790" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "" "M" "" "Germany" "" "0" "" "" "" "" "00078791" "" "" "" "1" "" "00006" "Bolduc ASHG2011 A114" "" "" "" "" "" "0" "" "" "" "" "00078792" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "" "" "00078793" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "white" "" "00078794" "" "" "" "1" "" "00464" "" "" "" "" "Canada" "" "0" "" "" "French Canadian" "" "00078795" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "" "" "00078796" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "European" "" "00078797" "" "" "" "1" "" "00464" "" "" "F" "?" "United States" "" "0" "" "" "" "" "00078798" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "Hispanic" "" "00078799" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "" "00078800" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "white" "" "00078801" "" "" "" "1" "" "00006" "{PMID:Witting 2012:23055322}" "2-generation family, affected male" "M" "" "Denmark" "" "0" "" "" "" "" "00078802" "" "" "" "1" "" "00006" "{PMID:Witting 2012:23055322}" "2-generation family, affected sister" "F" "" "Denmark" "" "0" "" "" "" "" "00078803" "" "" "" "1" "" "00006" "{PMID:Witting 2012:23055322}" "2-generation family, unaffected carrier parent and sister" "?" "" "Denmark" "" "0" "" "" "" "" "00078804" "" "" "" "1" "" "00006" "{PMID:Witting 2012:23055322}" "2-generation family, unaffected carrier parent and brother" "?" "" "Denmark" "" "0" "" "" "" "" "00078805" "" "" "" "11" "" "00006" "{PMID:Marconi 2012:23047743}" "6-generation family, 15 affecteds" "F" "" "Italy" ">41y" "0" "" "" "" "" "00078806" "" "" "" "1" "" "00006" "{PMID:Marconi 2012:23047743}" "6-generation family, 15 affecteds" "M" "" "Italy" ">42y" "0" "" "" "" "" "00078807" "" "" "" "1" "" "00006" "{PMID:Marconi 2012:23047743}" "6-generation family, 15 affecteds" "M" "" "Italy" ">76y" "0" "" "" "" "" "00078808" "" "" "" "1" "" "00006" "{PMID:Marconi 2012:23047743}" "6-generation family, 15 affecteds" "F" "" "Italy" ">70y" "0" "" "" "" "" "00078809" "" "" "" "1" "" "00006" "{PMID:Marconi 2012:23047743}" "6-generation family, 15 affecteds" "F" "" "Italy" ">75y" "0" "" "" "" "" "00078810" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "2-generation family, 2 affecteds (brothers), unaffected carrier parents" "M" "" "France" "" "0" "" "" "" "" "00078811" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "2-generation family, 2 affecteds (brothers), unaffected carrier parents" "M" "" "France" "" "0" "" "" "" "" "00078812" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "M" "" "France" "" "0" "" "" "" "" "00078813" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "M" "" "France" "" "0" "" "" "" "" "00078814" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "M" "" "France" "" "0" "" "" "" "" "00078815" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "M" "" "France" "" "0" "" "" "" "" "00078816" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "M" "" "France" "" "0" "" "" "" "" "00078817" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "M" "" "France" "" "0" "" "" "" "" "00078818" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "M" "" "France" "" "0" "" "" "" "" "00078819" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "M" "" "France" "" "0" "" "" "" "" "00078820" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "M" "" "France" "" "0" "" "" "" "" "00078821" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "M" "" "France" "" "0" "" "" "" "" "00078822" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "M" "" "France" "" "0" "" "" "" "" "00078823" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "M" "" "France" "" "0" "" "" "" "" "00078824" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "M" "" "France" "" "0" "" "" "" "" "00078825" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "M" "" "France" "" "0" "" "" "" "" "00078826" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "F" "" "France" "" "0" "" "" "" "" "00078827" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "F" "" "France" "" "0" "" "" "" "" "00078828" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "F" "" "France" "" "0" "" "" "" "" "00078829" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "M" "" "France" "" "0" "" "" "" "" "00078830" "" "" "" "1" "" "00006" "{PMID:Wahbi 2012:23041008}" "" "F" "" "France" "" "0" "" "" "" "" "00078831" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "" "M" "" "France" "" "0" "" "" "" "" "00078832" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "" "F" "" "France" "" "0" "" "" "" "" "00078833" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "" "M" "" "France" "" "0" "" "" "" "" "00078834" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "" "M" "" "France" "" "0" "" "" "" "" "00078835" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "" "M" "" "France" "" "0" "" "" "" "" "00078836" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "" "M" "" "France" "" "0" "" "" "" "" "00078837" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "" "M" "" "Germany" "" "0" "" "" "" "" "00078838" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "" "M" "" "Germany" "" "0" "" "" "" "" "00078839" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "" "F" "" "Germany" "" "0" "" "" "" "" "00078840" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "2-generation family, 1 affected" "M" "" "Germany" "" "0" "" "" "" "" "00078841" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "" "M" "" "Germany" "" "0" "" "" "" "" "00078842" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "" "F" "" "Germany" "" "0" "" "" "" "" "00078843" "" "" "" "1" "" "00006" "{PMID:Sarkozy 2012:22980763}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00078844" "" "" "" "1" "" "00006" "{PMID:Penttila 2012:22402862}" "" "" "" "Finland" "" "0" "" "" "" "" "00078845" "" "" "" "1" "" "00006" "{PMID:Penttila 2012:22402862}" "" "F" "" "Finland" "" "0" "" "" "" "" "00078846" "" "" "" "1" "" "00006" "{PMID:Penttila 2012:22402862}" "" "F" "" "Finland" "" "0" "" "" "" "" "00078847" "" "" "" "1" "" "00006" "{PMID:Penttila 2012:22402862}" "" "" "" "Finland" "" "0" "" "" "" "" "00078848" "" "" "" "1" "" "00006" "{PMID:Penttila 2012:22402862}" "" "" "" "Finland" "" "0" "" "" "" "" "00078849" "" "" "" "1" "" "00006" "{PMID:Penttila 2012:22402862}" "" "" "" "Finland" "" "0" "" "" "" "" "00078850" "" "" "" "1" "" "00006" "{PMID:Penttila 2012:22402862}" "" "" "" "Finland" "" "0" "" "" "" "" "00078851" "" "" "" "1" "" "00006" "{PMID:Penttila 2012:22402862}" "" "" "" "Finland" "" "0" "" "" "" "" "00078852" "" "" "" "1" "" "00006" "{PMID:Penttila 2012:22402862}" "" "" "" "Finland" "" "0" "" "" "" "" "00078853" "" "" "" "1" "" "00006" "{PMID:Penttila 2012:22402862}" "" "" "" "Finland" "" "0" "" "" "" "" "00078854" "" "" "" "1" "" "00006" "{PMID:Penttila 2012:22402862}" "" "F" "" "Finland" "" "0" "" "" "" "" "00078855" "" "" "" "1" "" "00006" "{PMID:Penttila 2012:22402862}" "" "" "" "Finland" "" "0" "" "" "" "" "00078856" "" "" "" "1" "" "00006" "{PMID:Penttila 2012:22402862}" "" "" "" "Spain" "" "0" "" "" "" "" "00078857" "" "" "" "1" "" "00006" "{PMID:Penttila 2012:22402862}" "" "" "" "Spain" "" "0" "" "" "" "" "00078858" "" "" "" "1" "" "00006" "{PMID:Penttila 2012:22402862}" "" "" "" "Australia" "" "0" "" "" "" "" "00078859" "" "" "" "1" "" "00006" "{PMID:Penttila 2012:22402862}" "" "" "" "Italy" "" "0" "" "" "" "" "00078860" "" "" "" "1" "" "00006" "{PMID:Schessl 2012:22499103}" "consanguineous grandparents" "M" "yes" "Afghanistan" "" "0" "" "" "" "" "00078861" "" "" "" "1" "" "00006" "{PMID:Schessl 2012:22499103}" "" "M" "" "Germany" "" "0" "" "" "" "" "00078862" "" "" "" "1" "" "00006" "{PMID:Schessl 2012:22499103}" "" "M" "" "Germany" "" "0" "" "" "" "" "00078863" "" "" "" "1" "" "00006" "{PMID:Schessl 2012:22499103}" "sister with similar symptoms" "F" "" "Germany" "" "0" "" "" "" "" "00078864" "" "" "" "1" "" "00006" "{PMID:Magrib 2012:22742934}" "3-generation family, 1 affected, unaffecteds carrier parents" "M" "no" "Italy" "" "0" "" "" "" "" "00078865" "" "" "" "1" "" "00006" "{PMID:Magrib 2012:22742934}" "3-generation family, 2 affecteds, unaffecteds carrier parents" "M" "no" "Italy" "" "0" "" "" "" "" "00078866" "" "" "" "1" "" "00006" "{PMID:Magrib 2012:22742934}" "3-generation family, 2 affecteds, unaffecteds carrier parents" "M" "no" "Italy" "" "0" "" "" "" "" "00078867" "" "" "" "2" "" "00006" "{PMID:Magrib 2012:22742934}" "3-generation family, 2 affecteds, unaffecteds carrier parents and sibs" "M" "no" "Italy" "" "0" "" "" "" "" "00078868" "" "" "" "1" "" "00006" "{PMID:Magrib 2012:22742934}" "3-generation family, 2 affecteds, unaffecteds carrier parents and sibs" "F" "no" "Italy" "" "0" "" "" "" "" "00078869" "" "" "" "2" "" "00006" "{PMID:Magrib 2012:22742934}" "5-generation family, 1 affected, unaffected carrier parents and sibs" "M" "yes" "Italy" "" "0" "" "" "" "" "00078870" "" "" "" "1" "" "00464" "" "" "M" "" "Canada" "" "0" "" "" "" "" "00078871" "" "" "" "1" "" "00006" "" "4-generation family, 1 affected" "M" "no" "Spain" "" "0" "" "" "" "" "00078872" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "" "00078874" "" "" "" "1" "" "00464" "" "" "M" "" "Canada" "" "0" "" "" "" "" "00078875" "" "" "" "1" "" "00464" "" "" "M" "" "Canada" "" "0" "" "" "" "" "00078876" "" "" "" "1" "" "01700" "{PMID:Punetha 2016:27854218}" "" "M" "yes" "" "" "0" "" "" "" "Pat9" "00078877" "" "" "" "1" "" "01700" "{PMID:Punetha 2016:27854218}" "" "F" "?" "" "" "0" "" "" "" "Pat16" "00078878" "" "" "" "1" "" "00006" "{PMID:Bolduc 2010:20096397}, Penttila WMS2010 P1.26" "" "" "" "Finland" "" "0" "" "" "" "" "00155749" "" "" "" "1" "" "02408" "{PMID:Nicolau 2020:32646536}" "" "F" "no" "Colombia" "68y" "0" "" "" "" "patient" "00174742" "" "" "" "1" "" "00006" "{PMID:Fichna 2018:29970176}" "" "M" "" "Poland" "" "0" "" "" "" "Pat20" "00174743" "" "" "" "1" "" "00006" "{PMID:Fichna 2018:29970176}" "" "M" "" "Poland" "" "0" "" "" "" "Pat10" "00207953" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00208804" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00219476" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219477" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219504" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219506" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219555" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219559" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219568" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219585" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219589" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219617" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219625" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219628" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219651" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219670" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219678" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219709" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219717" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219772" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219783" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219804" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219810" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219824" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219828" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219853" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219862" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219873" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219887" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219888" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219895" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219918" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219921" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219962" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219968" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220030" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220043" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220056" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220065" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220068" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220093" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220095" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220097" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220117" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220122" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220123" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220134" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220146" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220148" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220149" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220177" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220196" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220205" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220223" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220240" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220252" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220268" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220272" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220288" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220303" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220304" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220310" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220320" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220321" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220340" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220361" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220367" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220368" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220381" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220390" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220397" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220415" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220419" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220428" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220431" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220440" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220441" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220444" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220464" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220468" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220473" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220483" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220505" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220516" "" "" "" "1" "" "00430" "{PMID:Nallamilli 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"(United States)" "" "0" "" "" "" "30564623-Pat" "00222606" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222620" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222627" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222628" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222671" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222674" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222692" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222711" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222725" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00228208" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "?" "00228209" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "?" "00228210" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "?" "00228211" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "?" "00228212" "" "" "" "2" "" "00399" "{PMID:Ten Dam 2019:30919934}" "2-generation family, affected sister/brother" "F" "" "Netherlands" "" "0" "" "" "" "FamPat1" "00228213" "" "" "00228212" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "brother" "M" "" "Netherlands" "" "0" "" "" "" "FamPat2" "00228214" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "?" "00228215" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "?" "00265553" "" "" "" "1" "" "00006" "{PMID:Izumi 2015:27066573}" "" "M" "" "Japan" "" "0" "" "" "" "Dys201-1" "00265648" "" "" "" "1" "" "00006" "{PMID:Monies 2016:27671536}" "759-gene panel analysis 50 patients suspected of LGMD" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam41 / 12R-00001" "00266177" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00274308" "" "" "" "1" "" "00006" "{PMID:Reddy 2017:27708273}" "" "M" "" "United States" "" "0" "" "" "white" "Fam1102" "00274309" "" "" "" "2" "" "00006" "{PMID:Reddy 2017:27708273}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "F;M" "" "United States" "" "0" "" "" "Europe, white" "Fam1105" "00274310" "" "" "" "1" "" "00006" "{PMID:Reddy 2017:27708273}" "" "M" "" "United States" "" "0" "" "" "Europe, white" "Fam1395" "00289132" "" "" "" "1" "" "00006" "{PMID:Evilä 2016:26627873}" "" "" "" "Netherlands" "" "0" "" "" "" "P1" "00290344" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290345" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290346" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290347" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290348" "" "" "" "31" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290349" "" "" "" "114" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290350" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290351" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295385" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301514" "" "" "" "1" "" "03678" "" "" "M" "" "Greece" "16y" "0" "" "" "" "" "00302891" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00304300" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305868" "" "" "" "1" "" "00006" "{PMID:Yu 2017:28403181}" "analysis 180 LGMD patients" "M" "" "China" "" "0" "" "" "" "P170" "00311804" "" "" "" "2" "" "00006" "{PMID:Vazquez 2020:32925086}" "2-generation family, 2 affected sisters" "F" "" "France" "" "0" "" "" "" "Pat1" "00311805" "" "" "00311804" "1" "" "00006" "{PMID:Vazquez 2020:32925086}" "sister" "F" "" "France" "" "0" "" "" "" "Pat2" "00311806" "" "" "" "1" "" "00006" "{PMID:Vazquez 2020:32925086}" "" "F" "" "France" "" "0" "" "" "" "Pat3" "00311807" "" "" "" "1" "" "00006" "{PMID:Vazquez 2020:32925086}" "" "M" "" "France" "" "0" "" "" "" "Pat4" "00311808" "" "" "" "1" "" "00006" "{PMID:Vazquez 2020:32925086}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat5" "00311809" "" "" "" "1" "" "00006" "{PMID:Lahoria 2014:24889862}" "2-generation family, 1 affected, unaffected fourth‐degree cousin parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "patient" "00311843" "" "" "" "1" "" "00006" "{PMID:Liewluck 2013:23663589}" "" "F" "" "United States" "" "0" "" "" "" "Pat1" "00311844" "" "" "" "1" "" "00006" "{PMID:Liewluck 2013:23663589}" "" "M" "" "United States" "" "0" "" "" "" "Pat2" "00311845" "" "" "" "1" "" "00006" "{PMID:Liewluck 2013:23663589}" "" "M" "" "United States" "" "0" "" "" "" "Pat3" "00311846" "" "" "" "1" "" "00006" "{PMID:Liewluck 2013:23663589}" "" "F" "" "United States" "" "0" "" "" "" "Pat4" "00311847" "" "" "" "2" "" "00006" "{PMID:Liewluck 2013:23663589}" "2-generation family, 2 affected brothers" "M" "" "United States" "" "0" "" "" "" "Pat5" "00311848" "" "" "" "1" "" "00006" "{PMID:Liewluck 2013:23663589}" "" "F" "" "United States" "" "0" "" "" "" "Pat6" "00311849" "" "" "" "2" "" "00006" "{PMID:Liewluck 2013:23663589}" "2-generation family, 2 affected (sister/brother)" "F" "" "United States" "" "0" "" "" "" "Pat7" "00313661" "" "" "" "1" "" "00006" "{PMID:Schröder 2013:24803842}" "" "" "" "Germany" "" "0" "" "" "" "ANO5-Pat1" "00313662" "" "" "" "1" "" "00006" "{PMID:Schröder 2013:24803842}" "" "" "" "Germany" "" "0" "" "" "" "ANO5-Pat2" "00313663" "" "" "" "1" "" "00006" "{PMID:Schröder 2013:24803842}" "" "" "" "Germany" "" "0" "" "" "" "ANO5-Pat3" "00313762" "" "" "" "1" "" "00006" "{PMID:Magri 2015:26404900}" "" "M" "" "Italy" "" "0" "" "" "" "Fam96Pat1" "00313763" "" "" "" "1" "" "00006" "{PMID:Magri 2015:26404900}" "" "M" "" "Italy" "" "0" "" "" "" "Fam97Pat1" "00313764" "" "" "" "2" "" "00006" "{PMID:Magri 2015:26404900}" "family, 2 affected (2M)" "M" "" "Italy" "" "0" "" "" "" "Fam98Pat1/2" "00313765" "" "" "" "2" "" "00006" "{PMID:Magri 2015:26404900}" "family, 2 affected (F, M)" "F;M" "" "Italy" "" "0" "" "" "" "Fam99Pat1/2" "00313766" "" "" "" "1" "" "00006" "{PMID:Magri 2015:26404900}" "" "M" "" "Italy" "" "0" "" "" "" "Fam100Pat1" "00313792" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313793" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313794" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313795" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313796" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313797" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313798" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00313799" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00313800" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313801" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313802" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00313803" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00313804" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313805" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00313806" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313807" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313808" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313809" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313810" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313811" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00313812" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313813" "" "" "" "2" "" "00399" "{PMID:Ten Dam 2019:30919934}" "2-generation family, 2 affected brothers" "M" "" "Netherlands" "" "0" "" "" "" "" "00313814" "" "" "00313813" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "brother" "M" "" "Netherlands" "" "0" "" "" "" "" "00313815" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313816" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313817" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313818" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00313819" "" "" "" "2" "" "00399" "{PMID:Ten Dam 2019:30919934}" "2-generation family, 2 affected brothers" "M" "" "Netherlands" "" "0" "" "" "" "" "00313820" "" "" "00313819" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "brother" "M" "" "Netherlands" "" "0" "" "" "" "" "00313821" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00313822" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313823" "" "" "" "3" "" "00399" "{PMID:Ten Dam 2019:30919934}" "2-generation family, 3 affected (2F, M)" "F" "" "Netherlands" "" "0" "" "" "" "" "00313824" "" "" "00313823" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "sister" "F" "" "Netherlands" "" "0" "" "" "" "" "00313825" "" "" "00313823" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "brother" "M" "" "Netherlands" "" "0" "" "" "" "" "00313826" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313827" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313828" "" "" "" "2" "" "00399" "{PMID:Ten Dam 2019:30919934}" "2-generation family, 2 affected sisters" "F" "" "Netherlands" "" "0" "" "" "" "" "00313829" "" "" "00313828" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "sister" "F" "" "Netherlands" "" "0" "" "" "" "" "00313830" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313831" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313832" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313833" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00313834" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313835" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00313836" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313837" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313838" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00313839" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313840" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313841" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00313842" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313843" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00313844" "" "" "" "3" "" "00399" "{PMID:Ten Dam 2019:30919934}" "2-generation family, 3 affected (2F, M)" "M" "" "Netherlands" "" "0" "" "" "" "" "00313845" "" "" "00313844" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "sister" "F" "" "Netherlands" "" "0" "" "" "" "" "00313846" "" "" "00313844" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "sister" "F" "" "Netherlands" "" "0" "" "" "" "" "00313847" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00314027" "" "" "" "18" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314028" "" "" "" "5" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314029" "" "" "" "4" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314030" "" "" "" "3" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314031" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314032" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314033" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314034" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314035" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314036" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314037" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314038" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314039" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314040" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314041" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314042" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314043" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314044" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314045" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314046" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314047" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314048" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314049" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314050" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314051" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314052" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314053" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314054" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314055" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314056" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314057" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314058" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314059" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00361913" "" "" "" "1" "" "04047" "{PMID:Saat 2021:33963534}" "" "F" "yes" "Turkey" "" "0" "" "" "" "Pat1" "00374191" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3198" "00388614" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "F" "" "India" "" "0" "" "" "India" "Pat50" "00388664" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "M" "" "India" "" "0" "" "" "India" "Pat3" "00388665" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "M" "" "India" "" "0" "" "" "India" "Pat4" "00388666" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "M" "" "India" "" "0" "" "" "India" "Pat5" "00391975" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "yes" "India" "" "0" "yes" "" "" "MDCRC/1056/DBI-894" "00392031" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "yes" "India" "" "0" "yes" "" "" "MDCRC/1247/DBI-1045" "00398963" "" "" "" "1" "" "02291" "{PMID:Segui 2020:32399949}" "no family history" "F" "?" "Spain" "" "0" "" "" "" "Pat2" "00398964" "" "" "" "1" "" "00006" "{PMID:Segui 2020:32399949}" "no family history" "F" "" "Spain" "" "0" "" "" "white" "Pat1" "00398965" "" "" "" "1" "" "00006" "{PMID:Segui 2020:32399949}" "no family history" "F" "" "Spain" "" "0" "" "" "" "Pat3" "00399069" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "F" "" "Spain" "" "0" "" "" "" "P142" "00399094" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "F" "" "Spain" "" "0" "" "" "" "P177" "00399109" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "F" "" "Spain" "" "0" "" "" "" "P197" "00399111" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P199" "00402410" "" "" "" "1" "" "01929" "{PMID:Cerino 2022:35741838}" "" "M" "no" "Chile" "" "0" "" "" "hispanic" "P49/Myo116" "00410539" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "F" "" "Belgium" "" "0" "" "" "" "Pat1" "00412607" "" "" "" "1" "" "00053" "{PMID:Escobar-Cedillo 2021:34628793}" "" "F" "" "Mexico" "" "0" "" "" "Mexican-mestizo" "" "00412986" "" "" "" "1" "cc_by_4.0;1" "04133" "" "" "" "" "" "" "" "" "" "" "" "00413091" "" "" "" "1" "" "00006" "{PMID:Cerino 2022:35741838}" "analysis 82 myopathy patients" "" "" "Chile" "" "0" "" "" "" "P3/Myo017" "00415546" "" "" "" "1" "" "00006" "{PMID:Bruels 2022:35734998}" "" "" "" "United States" "" "0" "" "" "" "110-1" "00419474" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "20030" "00419594" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "8017" "00419595" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9005" "00419596" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9129" "00419597" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9168" "00430451" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 146 neuromuscular disease patients" "F" "" "Turkey" "" "0" "" "" "" "D62" "00430478" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 146 neuromuscular disease patients, unsolved" "M" "" "Turkey" "" "0" "" "" "" "U22" "00430483" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 146 neuromuscular disease patients, unsolved (possible di-genic inheritance)" "M" "" "Turkey" "" "0" "" "" "" "U27" "00438529" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 67 patients muscular dystrophy/myopathy (not DMD)" "F" "" "Turkey" "" "0" "" "" "" "D62" "00438556" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 67 patients muscular dystrophy/myopathy (not DMD)" "M" "" "Turkey" "" "0" "" "" "" "U22" "00438561" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 67 patients muscular dystrophy/myopathy (not DMD)" "M" "" "Turkey" "" "0" "" "" "" "U27" "00442631" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat3" "00442632" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat4" "00442633" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat5" "00442704" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat76" "00442705" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat77" "00455145" "" "" "" "1" "" "00006" "{PMID:Stehlikova 2014:25135358}" "" "" "" "Czech Republic" "" "0" "" "" "" "LGMD-Pat87" "00455146" "" "" "" "1" "" "00006" "{PMID:Stehlikova 2014:25135358}" "" "" "" "Czech Republic" "" "0" "" "" "" "LGMD-Pat88" "00455147" "" "" "" "1" "" "00006" "{PMID:Stehlikova 2014:25135358}" "" "" "" "Czech Republic" "" "0" "" "" "" "LGMD-Pat89" "00460262" "" "" "" "1" "" "00006" "{PMID:Marti 2025:39666917}" "patient, no family history" "" "" "Spain" "" "0" "" "" "" "Pat33" "00460275" "" "" "" "1" "" "00006" "{PMID:Marti 2025:39666917}" "patient, no family history" "" "" "Spain" "" "0" "" "" "" "Pat46" "00460282" "" "" "" "1" "" "00006" "{PMID:Marti 2025:39666917}" "patient, family history" "" "" "Spain" "" "0" "" "" "" "Pat53" "00460288" "" "" "" "1" "" "00006" "{PMID:Marti 2025:39666917}" "patient, family history" "" "" "Spain" "" "0" "" "" "" "Pat59" "00466360" "" "" "" "1" "" "04653" "Pending" "" "F" "" "France" "" "" "" "" "" "" "00466569" "" "" "" "1" "" "00006" "{PMID:Rini 2025:40870035}, {DOI:Rini 20251: 10.3390/genes16080987}" "" "" "" "Italy" "" "0" "" "" "" "Pat17" "00466570" "" "" "" "1" "" "00006" "{PMID:Rini 2025:40870035}, {DOI:Rini 20251: 10.3390/genes16080987}" "" "" "" "Italy" "" "0" "" "" "" "Pat18" "00466831" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat118" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 592 "{{individualid}}" "{{diseaseid}}" "00065234" "05126" "00073766" "01482" "00074345" "01482" "00074346" "01482" "00074347" "01482" "00074348" "01482" "00074349" "01482" "00074350" "01482" "00078730" "01482" "00078731" "01482" "00078732" "01482" "00078733" "03021" "00078734" "03021" "00078735" "03021" "00078736" "03021" "00078737" "03021" "00078738" "03021" "00078739" "03021" "00078740" "03021" "00078741" "03309" "00078742" "03309" "00078743" "03309" "00078744" "03309" "00078745" "03309" "00078746" "00000" "00078747" "00000" "00078748" "03309" "00078749" "05126" "00078750" "05126" "00078751" "05126" "00078752" "05126" "00078753" "05126" "00078754" "05126" "00078755" "05126" "00078756" "05126" "00078757" "05126" "00078758" "05126" "00078759" "05126" "00078760" "05126" "00078761" "05126" "00078762" "05126" "00078763" "05126" "00078764" "05126" "00078765" "05126" "00078766" "05126" "00078767" "05126" "00078768" 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"05126" "00222058" "05126" "00222081" "05126" "00222095" "05126" "00222125" "05126" "00222142" "05126" "00222167" "05126" "00222182" "05126" "00222191" "05126" "00222195" "05126" "00222197" "05126" "00222210" "05126" "00222236" "05126" "00222247" "05126" "00222250" "05126" "00222272" "05126" "00222301" "05126" "00222312" "05126" "00222314" "05126" "00222327" "05126" "00222341" "05126" "00222359" "05126" "00222407" "05126" "00222426" "05126" "00222440" "05126" "00222481" "05126" "00222483" "05126" "00222524" "05126" "00222525" "05126" "00222526" "05126" "00222529" "05126" "00222539" "05126" "00222548" "05126" "00222550" "05126" "00222577" "05126" "00222589" "05126" "00222594" "05126" "00222606" "05126" "00222620" "05126" "00222627" "05126" "00222628" "05126" "00222671" "05126" "00222674" "05126" "00222692" "05126" "00222711" "05126" "00222725" "05126" "00228208" "05126" "00228209" "05126" "00228210" "05126" "00228211" "05126" "00228212" "05126" "00228213" "05126" "00228214" "05126" "00228215" "05126" "00265553" "05121" "00265648" "05126" "00274308" "05126" "00274309" "05126" "00274310" "05126" "00289132" "00244" "00290344" "00198" "00290345" "00198" "00290346" "00198" "00290347" "00198" "00290348" "00198" "00290349" "00198" "00290350" "00198" "00290351" "00198" "00295385" "00198" "00301514" "03021" "00302891" "00198" "00304300" "00198" "00305868" "05126" "00311804" "00244" "00311805" "00244" "00311806" "00244" "00311807" "00244" "00311808" "00244" "00311809" "01273" "00311843" "00244" "00311844" "00244" "00311845" "00244" "00311846" "00244" "00311847" "00244" "00311848" "00244" "00311849" "00244" "00313661" "05126" "00313662" "05126" "00313663" "05126" "00313762" "05126" "00313763" "05126" "00313764" "05126" "00313765" "05126" "00313766" "05126" "00313792" "05126" "00313793" "05126" "00313794" "05126" "00313795" "05126" "00313796" "05126" "00313797" "05126" "00313798" "05126" "00313799" "05126" "00313800" "05126" "00313801" "05126" "00313802" "05126" "00313803" "05126" "00313804" "05126" "00313805" "05126" "00313806" "05126" "00313807" "05126" "00313808" "05126" "00313809" "05126" "00313810" "05126" "00313811" "05126" "00313812" "05126" "00313813" "05126" "00313814" "05126" "00313815" "05126" "00313816" "05126" "00313817" "05126" "00313818" "05126" "00313819" "05126" "00313820" "05126" "00313821" "05126" "00313822" "05126" "00313823" "05126" "00313824" "05126" "00313825" "05126" "00313826" "05126" "00313827" "05126" "00313828" "05126" "00313829" "05126" "00313830" "05126" "00313831" "05126" "00313832" "05126" "00313833" "05126" "00313834" "05126" "00313835" "05126" "00313836" "05126" "00313837" "05126" "00313838" "05126" "00313839" "05126" "00313840" "05126" "00313841" "05126" "00313842" "05126" "00313843" "05126" "00313844" "05126" "00313845" "05126" "00313846" "05126" "00313847" "05126" "00314027" "05126" "00314028" "05126" "00314029" "05126" "00314030" "05126" "00314031" "05126" "00314032" "05126" "00314033" "05126" "00314034" "05126" "00314035" "05126" "00314036" "05126" "00314037" "05126" "00314038" "05126" "00314039" "05126" "00314040" "05126" "00314041" "05126" "00314042" "05126" "00314043" "05126" "00314044" "05126" "00314045" "05126" "00314046" "05126" "00314047" "05126" "00314048" "05126" "00314049" "05126" "00314050" "05126" "00314051" "05126" "00314052" "05126" "00314053" "05126" "00314054" "05126" "00314055" "05126" "00314056" "05126" "00314057" "05126" "00314058" "05126" "00314059" "05126" "00361913" "03021" "00374191" "00198" "00388614" "00244" "00388664" "00244" "00388665" "00244" "00388666" "00244" "00391975" "05324" "00392031" "05324" "00398963" "03021" "00398964" "05121" "00398965" "00198" "00399069" "05618" "00399094" "05618" "00399109" "05618" "00399111" "05618" "00402410" "03021" "00410539" "00198" "00412607" "05126" "00412986" "03021" "00413091" "00244" "00415546" "05126" "00419474" "00198" "00419594" "00198" "00419595" "00198" "00419596" "00198" "00419597" "00198" "00430451" "05618" "00430478" "05618" "00430483" "05618" "00438529" "05121" "00438556" "05121" "00438561" "05121" "00442631" "05618" "00442632" "05618" "00442633" "05618" "00442704" "05618" "00442705" "05618" "00455145" "00141" "00455146" "00141" "00455147" "00141" "00460262" "01273" "00460275" "01273" "00460282" "01273" "00460288" "01273" "00466360" "03021" "00466569" "05126" "00466570" "05126" "00466831" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00141, 00198, 00244, 01273, 01482, 03021, 03309, 04285, 05106, 05121, 05126, 05296, 05324, 05618 ## Count = 301 "{{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}}" "0000051341" "05126" "00065234" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054163" "01482" "00073766" "01606" "Familial, autosomal dominant" "41y" "mandibular osteomyelitis (HP:0007626), increased susceptibility to fractures (HP:0002659), ..." "" "" "" "" "" "" "" "" "" "" "" "0000054164" "01482" "00074345" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054165" "01482" "00074346" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054166" "01482" "00074347" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054167" "01482" "00074348" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054168" "01482" "00074349" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054169" "01482" "00074350" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058489" "01482" "00078730" "00006" "Familial, autosomal dominant" "" "frequent bone fractures, propensity jaw infection, often suffer from purulent osteomyelitis-like symptoms (swelling of/pus discharge from gums, mobility teeth, insufficient healing after tooth extraction, exposure lesions into oral cavity), extragnathic skeletal changes (generalized coarse bony trabeculae, gross thickening diaphyseal cortices long bones)" "" "" "" "" "" "" "" "" "" "" "" "0000058490" "01482" "00078731" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058491" "01482" "00078732" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058492" "03021" "00078733" "00006" "Isolated (sporadic)" "68y" "iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 5, calf muscles no weakness, no distal weakness ; raised CPK (HP:0003236) 1649; >68y walking (-HP:0006957)" "0y" "" "" "" "" "" "" "" "" "" "" "0000058493" "03021" "00078734" "00006" "Isolated (sporadic)" "67y" "iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 4.5, calf muscles mild atrophy, no distal weakness ; raised CPK (HP:0003236) 1032; >67y walking (-HP:0006957)" "40y" "" "" "" "" "" "" "" "" "" "" "0000058494" "03021" "00078735" "00006" "Isolated (sporadic)" "65y" "iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 4, calf muscles mild atrophy, no distal weakness ; raised CPK (HP:0003236) 1156; >65y walking (-HP:0006957)" "37y" "" "" "" "" "" "" "" "" "" "" "0000058495" "03021" "00078736" "00006" "Isolated (sporadic)" "47y" "iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 5, calf muscles mild atrophy, no distal weakness ; raised CPK (HP:0003236) 6000; >47y walking (-HP:0006957)" "20y" "" "" "" "" "" "" "" "" "" "" "0000058496" "03021" "00078737" "00006" "Isolated (sporadic)" "" "deceased" "" "" "" "" "" "" "" "" "" "" "" "0000058497" "03021" "00078738" "00006" "Familial, autosomal recessive" "43y" "iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 5, calf muscles atrophy, distal weakness calf muscles 4/5; raised CPK (HP:0003236) 8081; >43y walking (-HP:0006957)" "20y" "" "" "" "" "" "" "" "" "" "" "0000058498" "03021" "00078739" "00006" "Familial, autosomal recessive" "61y" "iliopsoas MRC 4.5, no quadriceps atrophy, quadriceps MRC 5, calf muscles hypertrophy, no distal weakness ; raised CPK (HP:0003236) 4061; >61y walking (-HP:0006957)" "0y" "" "" "" "" "" "" "" "" "" "" "0000058499" "03021" "00078740" "00006" "Isolated (sporadic)" "64y" "iliopsoas MRC 3.5, quadriceps atrophy, quadriceps MRC 4.5, calf muscles hypertrophy, distal weakness tibialis ant. 4/5; raised CPK (HP:0003236) 1339; >64y walking (-HP:0006957)" "55y" "" "" "" "" "" "" "" "" "" "" "0000058500" "03309" "00078741" "00006" "Familial, autosomal recessive" "44y" "iliopsoas MRC Sin 4, quadriceps atrophy, quadriceps MRC 4 > 2, calf muscles hypertrophy, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 15860; >44y walking (-HP:0006957)" "20y" "" "" "" "" "" "" "" "" "" "" "0000058501" "03309" "00078742" "00006" "Familial, autosomal recessive" "50y" "iliopsoas MRC 5, no quadriceps atrophy, quadriceps MRC 5, calf muscles hypertrophy, distal weakness calf muscles 4/5; raised CPK (HP:0003236) 12290; >50y walking (-HP:0006957)" "25y" "" "" "" "" "" "" "" "" "" "" "0000058502" "03309" "00078743" "00006" "Familial, autosomal recessive" "72y" "iliopsoas MRC 4, no quadriceps atrophy, quadriceps MRC 4, calf muscles no weakness, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 5400; >72y walking (-HP:0006957)" "51y" "" "" "" "" "" "" "" "" "" "" "0000058503" "03309" "00078744" "00006" "Familial, autosomal recessive" "67y" "iliopsoas MRC 5, quadriceps atrophy, quadriceps MRC 5, calf muscles no weakness, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 4500; >67y walking (-HP:0006957)" "45y" "" "" "" "" "" "" "" "" "" "" "0000058504" "03309" "00078745" "00006" "Familial, autosomal recessive" "53y" "iliopsoas MRC 5, no quadriceps atrophy, quadriceps MRC 5, calf muscles no weakness, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 4800; >53y walking (-HP:0006957)" "39y" "" "" "" "" "" "" "" "" "" "" "0000058505" "00000" "00078746" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058506" "00000" "00078747" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058507" "03309" "00078748" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058508" "05126" "00078749" "00006" "Unknown" "" "IHC ANO5 striated signal preserved" "" "" "" "" "" "" "" "" "" "" "" "0000058509" "05126" "00078750" "00006" "Unknown" "61y" "able walk on toes; difficulty walk on heels; muscle atrophy medial gastrocnemius; no scapular winging; contractures (wrist, TA), sleep apnoea, diabetes; raised CPK (HP:0003236) 3500; walking (-HP:0006957)" "<50y" "" "difficulty walking" "" "" "" "" "" "" "" "" "0000058510" "05126" "00078751" "00006" "Unknown" "68y" "no scapular winging; diabetes: deceased (cancer, bladder); raised CPK (HP:0003236) 4500; walking (-HP:0006957)" "<60y" "" "difficulty walking" "" "" "" "" "" "" "" "" "0000058511" "05126" "00078752" "00006" "Unknown" "50y" "unable walk on toes; difficulty walk on heels; muscle atrophy quadriceps, hamstrings, gastrocnemius; no scapular winging; myoglobinuria; raised CPK (HP:0003236) 4000-8000; walking (-HP:0006957)" "<30y" "" "aaches and pain" "" "" "" "" "" "" "" "" "0000058512" "05126" "00078753" "00006" "Unknown" "45y" "difficulty walk on toes; difficulty walk on heels; muscle atrophy biceps, brachioradialis, quadriceps, hamstrings; scapular winging; raised CPK (HP:0003236) 4000-8000; walking (-HP:0006957)" "<30y" "" "difficulty walking" "" "" "" "" "" "" "" "" "0000058513" "05126" "00078754" "00006" "Unknown" "68y" "unable walk on toes; difficulty walk on heels; muscle atrophy Deltoids, biceps, triceps, quadriceps; no scapular winging; knee hyperextension, foot drop, IHD; raised CPK (HP:0003236) 3000; progressive inability to walk (HP:0002505) restricted" "<30y" "" "difficulty walking" "" "" "" "" "" "" "" "" "0000058514" "05126" "00078755" "00006" "Unknown" "37y" "able walk on toes; difficulty walk on heels; muscle atrophy medial gastrocnemius (assymetry); scapular winging; knee hyperextension, contractures (wrist, fingers); raised CPK (HP:0003236) 5000; progressive inability to walk (HP:0002505) restricted" "<30y" "" "difficulty walking" "" "" "" "" "" "" "" "" "0000058515" "05126" "00078756" "00006" "Unknown" "43y" "able walk on toes; unable walk on heels; muscle atrophy brachioradialis, hamstrings, medial gastrocnemius; no scapular winging; knee hyperextension; raised CPK (HP:0003236) 5300; walking (-HP:0006957)" "<30y" "" "difficulty walking" "" "" "" "" "" "" "" "" "0000058516" "05126" "00078757" "00006" "Unknown" "61y" "able walk on toes; able walk on heels; muscle atrophy biceps, brachioradialis, pectoralis, quadriceps, hamstrings (assymetry); scapular winging (assymetry); knee hyperextension, calf hypertrophy, contractures (wrist, fingers); raised CPK (HP:0003236) 2400-3400; walking (-HP:0006957)" "<50y" "" "weakness uper limb" "" "" "" "" "" "" "" "" "0000058517" "05126" "00078758" "00006" "Unknown" "54y" "unable walk on toes; unable walk on heels; muscle atrophy quadriceps, medial gastrocnemius; scapular winging; knee hyperextension; raised CPK (HP:0003236) 1800-10 000; walking (-HP:0006957)" "<30y" "" "difficulties standing on toes" "" "" "" "" "" "" "" "" "0000058518" "05126" "00078759" "00006" "Unknown" "57y" "unable walk on toes; able walk on heels; muscle atrophy medial gastrocnemius; no scapular winging; contractures (Achilles tendons); raised CPK (HP:0003236) 3900; walking (-HP:0006957)" "<50y" "" "difficulties standing on toes" "" "" "" "" "" "" "" "" "0000058519" "05126" "00078760" "00006" "Unknown" "56y" "unable walk on toes; able walk on heels; muscle atrophy biceps focally, glutei, quadriceps, hamstrings, medial gastrocnemius (assymetry); no scapular winging; knee hyperextension; raised CPK (HP:0003236) 2500; walking (-HP:0006957)" "<30y" "" "difficulties standing on toes" "" "" "" "" "" "" "" "" "0000058520" "05126" "00078761" "00006" "Unknown" "47y" "unable walk on toes; difficulty walk on heels; muscle atrophy quadriceps, calves (assymetry); no scapular winging; raised CPK (HP:0003236) 4500; walking (-HP:0006957)" "<40y" "" "calf wasting" "" "" "" "" "" "" "" "" "0000058521" "05126" "00078762" "00006" "Unknown" "55y" "able walk on toes; difficulty walk on heels; muscle atrophy biceps focally, quadriceps, hamstrings, medial gastrocnemius (assymetry); scapular winging; knee hyperextension; raised CPK (HP:0003236) 4100; walking (-HP:0006957)" "<40y" "" "stiffness, knee problems" "" "" "" "" "" "" "" "" "0000058522" "05126" "00078763" "00006" "Unknown" "40y" "unable walk on toes; able walk on heels; muscle atrophy quadriceps and calves (assymetry); no scapular winging; raised CPK (HP:0003236) 3000-7000; walking (-HP:0006957)" "<40y" "" "difficulty walking" "" "" "" "" "" "" "" "" "0000058523" "05126" "00078764" "00006" "Unknown" "58y" "unable walk on toes; unable walk on heels; muscle atrophy biceps focally, thighs; no scapular winging; raised CPK (HP:0003236) 4400; walking (-HP:0006957)" "<50y" "" "difficulty walking" "" "" "" "" "" "" "" "" "0000058524" "05126" "00078765" "00006" "Unknown" "49y" "unable walk on toes; unable walk on heels; muscle atrophy severe wasting LL muscles; scapular winging (assymetry); raised CPK (HP:0003236) 2900-3500; progressive inability to walk (HP:0002505) severely restricted" "<40y" "" "difficulty walking" "" "" "" "" "" "" "" "" "0000058525" "05126" "00078766" "00006" "Unknown" "48y" "able walk on toes; difficulty walk on heels; muscle atrophy quadriceps; no scapular winging; calf hypertrophy, myoglobinuria; raised CPK (HP:0003236) 800-4700; walking (-HP:0006957)" "<40y" "" "decreasing sport performance" "" "" "" "" "" "" "" "" "0000058526" "05126" "00078767" "00006" "Unknown" "35y" "difficulty walk on toes; difficulty walk on heels; muscle atrophy quadriceps, calves; no scapular winging; onset late teens; raised CPK (HP:0003236) 5000; walking (-HP:0006957)" "<20y" "" "decreasing sport performance" "" "" "" "" "" "" "" "" "0000058527" "05126" "00078768" "00006" "Unknown" "58y" "able walk on toes; difficulty walk on heels; muscle atrophy medial gastrocnemius (assymetry); no scapular winging; raised CPK (HP:0003236) 300-2000; walking (-HP:0006957)" "<50y" "" "elevated CK" "" "" "" "" "" "" "" "" "0000058528" "05126" "00078769" "00006" "Unknown" "56y" "unable walk on toes; unable walk on heels; muscle atrophy quadriceps, calves; scapular winging (assymetry); myoglobinuria; raised CPK (HP:0003236) 1700-3000; progressive inability to walk (HP:0002505) restricted" "<40y" "" "difficulties standing on toes" "" "" "" "" "" "" "" "" "0000058529" "05106" "00078770" "00006" "Unknown" "" "myopathy, distal, calf; weakness proximal upper/lower limbs" "" "" "" "" "" "" "" "" "" "" "" "0000058530" "00198" "00078771" "00006" "Unknown" "" "myositis; highCK, occasional lymphocytic infiltrations; raised CPK (HP:0003236) high" "" "" "" "" "" "" "" "" "" "" "" "0000058531" "05106" "00078772" "00006" "Unknown" "" "myopathy, distal, calf; weakness proximal upper/lower limbs" "" "" "" "" "" "" "" "" "" "" "" "0000058532" "05106" "00078773" "00006" "Unknown" "" "myopathy, distal, calf; weakness proximal lower limbs, EMG neurogenic" "" "" "" "" "" "" "" "" "" "" "" "0000058533" "05106" "00078774" "00006" "Unknown" "" "myopathy, distal, calf; weakness proximal lower limbs" "" "" "" "" "" "" "" "" "" "" "" "0000058534" "05106" "00078775" "00006" "Unknown" "" "myopathy, distal, calf; distal lower limb calf weakness, atrophy" "" "" "" "" "" "" "" "" "" "" "" "0000058535" "05106" "00078776" "00006" "Unknown" "" "myopathy, distal, calf; distal lower limb calf weakness, atrophy" "" "" "" "" "" "" "" "" "" "" "" "0000058536" "05106" "00078777" "00006" "Unknown" "" "myopathy, distal, calf" "" "" "" "" "" "" "" "" "" "" "" "0000058537" "05106" "00078778" "00006" "Unknown" "" "myopathy, distal, calf; distal lower limb calf weakness, atrophy" "" "" "" "" "" "" "" "" "" "" "" "0000058538" "05106" "00078779" "00464" "Unknown" "" "myopathy, Miyoshi, distal" "" "" "" "" "" "" "" "" "" "" "" "0000058539" "05126" "00078780" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058540" "05106" "00078781" "00464" "Unknown" "" "myopathy, Miyoshi" "" "" "" "" "" "" "" "" "" "" "" "0000058541" "00198" "00078782" "00464" "Isolated (sporadic)" "" "anoctaminopathy, exercize intolerance, late-onset proximal leg weaknes, recurrent rhabdomyolysis; muscle biopsy amyloid deposits blood vessel walls/around muscle fibers; childhood onset; raised CPK (HP:0003236) 444-22000; >53y walking (-HP:0006957)" "" "" "exercise-induced myalgia, fatigue, hammer toes" "" "" "" "" "" "" "" "" "0000058542" "05106" "00078783" "00464" "Unknown" "" "myopathy, Miyoshi; normal dysferlin on biopsy staining" "" "" "" "" "" "" "" "" "" "" "" "0000058543" "05106" "00078784" "00464" "Unknown" "" "myopathy, distal, Miyoshi; distal leg weakness, atrophy; raised CPK (HP:0003236) 1000-1800; IHC normal, DYSF, DMD, SGCA" "34y" "" "" "" "" "" "" "" "" "" "" "0000058544" "05106" "00078785" "00464" "Unknown" "" "myopathy, Miyoshi, distal" "" "" "" "" "" "" "" "" "" "" "" "0000058545" "05121" "00078786" "00006" "Unknown" "" "raised CPK (HP:0003236) 30x; >70y walking (-HP:0006957)" "64y" "" "" "" "" "" "" "" "" "" "" "0000058546" "05121" "00078787" "00006" "Unknown" "" "raised CPK (HP:0003236) 241-2603; >52y walking (-HP:0006957)" "38y" "" "thigh weakness" "" "" "" "" "" "" "" "" "0000058547" "05121" "00078788" "00006" "Unknown" "" "raised CPK (HP:0003236) 1500-6100; >56y walking (-HP:0006957)" "40y" "" "asymmetric thigh weakness" "" "" "" "" "" "" "" "" "0000058548" "05121" "00078789" "00006" "Unknown" "" "raised CPK (HP:0003236) 2280; >52y walking (-HP:0006957)" "" "" "" "" "" "" "" "" "" "" "" "0000058549" "05121" "00078790" "00006" "Unknown" "" "raised CPK (HP:0003236) 5000; >35y walking (-HP:0006957)" "23y" "" "reduced sport prformance" "" "" "" "" "" "" "" "" "0000058550" "05126" "00078791" "00006" "Unknown" "" "IHC ANO5 striated signal preserved" "" "" "" "" "" "" "" "" "" "" "" "0000058551" "03021" "00078792" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058552" "03021" "00078793" "00464" "Unknown" "" "dystrophic muscle biopsy" "" "" "" "" "" "" "" "" "" "" "" "0000058553" "03021" "00078794" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058554" "03021" "00078795" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058555" "05106" "00078796" "00464" "Unknown" "" "progressive distal myopathy" "" "" "" "" "" "" "" "" "" "" "" "0000058556" "03021" "00078797" "00464" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058557" "03021" "00078798" "00464" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058558" "03021" "00078799" "00464" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058559" "03021" "00078800" "00464" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058560" "01273" "00078801" "00006" "Isolated (sporadic)" "" "left facial palsy caused by a schwannoma; no muscle wasting/weakness; 15y-myopathy, central nuclei, increased variability, regenerating fibers, no necrotic fibers fiber size; raised CPK (HP:0003236) 2700-25000; >17y walking (-HP:0006957)" "13y" "" "facial dysmorphism, prominent jaw" "" "" "" "" "" "" "" "" "0000058561" "01273" "00078802" "00006" "Isolated (sporadic)" "" "no muscle/bone abnormalities; raised CPK (HP:0003236) 555-2990; >14y walking (-HP:0006957)" "" "" "" "" "" "" "" "" "" "" "" "0000058562" "00000" "00078803" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058563" "00000" "00078804" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058564" "01482" "00078805" "00006" "Familial, autosomal recessive" "41y" "cemento-osseous lesions jaw bones, inferior arch sclerosis, bilateral periodontopathy, bones thickening areas, jaw bones sclerosis, right jaw angle structural rearrangement, jaw odontoid cystis with included tooth purulent osteomyelitis; raised CPK (HP:0003236) 809 mU/ml" "11y" "" "spontaneous fractures thighbones, slow healing" "" "" "" "" "" "" "" "" "0000058565" "01482" "00078806" "00006" "Familial, autosomal recessive" "42y" "spontaneous fractures vertebras, fibula, thighbones, radius/ulna, III right metatarsus, right iliac wing, hallux, healing problems after extraction wisdom teeth, cotton-wool-like pattern bony structure mandible, bone thickening jaws, areas cotton-wool-like pattern of alveolar region; raised CPK (HP:0003236) 112 mU/ml" "8y" "" "spontaneous fractures" "" "" "" "" "" "" "" "" "0000058566" "01482" "00078807" "00006" "Familial, autosomal recessive" "76y" "cemento-osseous lesions jaw bones, purulent osteomyelitis, bilateral osteolysis, jaw structural rearrangement, slow-healing fractured right knee/V left finger; raised CPK (HP:0003236) 89 mU/ml" "12y" "" "spontaneous fractures" "" "" "" "" "" "" "" "" "0000058567" "01482" "00078808" "00006" "Familial, autosomal recessive" "70y" "cemento-osseous lesions jaw bones, purulent osteomyelitis, no slow-healing fractured bones" "" "" "" "" "" "" "" "" "" "" "" "0000058568" "01482" "00078809" "00006" "Familial, autosomal recessive" "75y" "cemento-osseous lesions jaw bones, inferior arch sclerosis, bilateral periodontopathy, bones thickening areas, slow-healing fractured thighbones/humerus; raised CPK (HP:0003236) 132 mU/ml" "11y" "" "spontaneous fractures" "" "" "" "" "" "" "" "" "0000058569" "05106" "00078810" "00006" "Isolated (sporadic)" "" "myopathy, distal, Myoshi-like; initial calf muscles involvement, asymmetric muscle atrophy preceding weakness; raised CPK (HP:0003236) 876-3138; >21y walking (-HP:0006957)" "" "" "" "" "" "" "" "" "" "" "" "0000058570" "05106" "00078811" "00006" "Isolated (sporadic)" "" "myopathy, distal, Myoshi-like; initial calf muscles involvement, asymmetric muscle atrophy preceding weakness; raised CPK (HP:0003236) high; >21y walking (-HP:0006957)" "" "" "" "" "" "" "" "" "" "" "" "0000058571" "03021" "00078812" "00006" "Unknown" "" "heart failure father, ambulatory with support; raised CPK (HP:0003236) 784; >69y walking (-HP:0006957)" "40y" "" "" "" "" "" "" "" "" "" "" "0000058572" "03021" "00078813" "00006" "Unknown" "" "raised CPK (HP:0003236) 4387; >51y walking (-HP:0006957)" "43y" "" "" "" "" "" "" "" "" "" "" "0000058573" "01273" "00078814" "00006" "Unknown" "" "raised CPK (HP:0003236) 4000; >39y walking (-HP:0006957)" "" "" "" "" "" "" "" "" "" "" "" "0000058574" "05106" "00078815" "00006" "Unknown" "" "myopathy, pseudo-metabolic (PMM); ECG early repolarisation syndrome; raised CPK (HP:0003236) 5089; >30y walking (-HP:0006957)" "15y" "" "" "" "" "" "" "" "" "" "" "0000058575" "03021" "00078816" "00006" "Unknown" "" "dyslipidemia, CAD, ambulatory with support; raised CPK (HP:0003236) 1319; >64y walking (-HP:0006957)" "45y" "" "" "" "" "" "" "" "" "" "" "0000058576" "03309" "00078817" "00006" "Unknown" "" "raised CPK (HP:0003236) 3000; >54y walking (-HP:0006957)" "38y" "" "" "" "" "" "" "" "" "" "" "0000058577" "05106" "00078818" "00006" "Unknown" "" "myopathy, proximo-distal; ambulatory with support; raised CPK (HP:0003236) 4662; >52y walking (-HP:0006957)" "31y" "" "" "" "" "" "" "" "" "" "" "0000058578" "03309" "00078819" "00006" "Unknown" "" "ECG left ventricular hypertrophy; raised CPK (HP:0003236) 1433; >30y walking (-HP:0006957)" "26y" "" "" "" "" "" "" "" "" "" "" "0000058579" "03309" "00078820" "00006" "Unknown" "" "raised CPK (HP:0003236) 2991; >33y walking (-HP:0006957)" "15y" "" "" "" "" "" "" "" "" "" "" "0000058580" "01273" "00078821" "00006" "Unknown" "" "raised CPK (HP:0003236) 3138; >21y walking (-HP:0006957)" "" "" "" "" "" "" "" "" "" "" "" "0000058581" "01273" "00078822" "00006" "Unknown" "" "raised CPK (HP:0003236) 4145; >34y walking (-HP:0006957)" "" "" "" "" "" "" "" "" "" "" "" "0000058582" "03309" "00078823" "00006" "Unknown" "" "raised CPK (HP:0003236) 686; >48y walking (-HP:0006957)" "23y" "" "" "" "" "" "" "" "" "" "" "0000058583" "03021" "00078824" "00006" "Unknown" "" "dyslipidemia, ECG left anterior fascicular block, ambulatory with support; raised CPK (HP:0003236) 2615; >56y walking (-HP:0006957)" "36y" "" "" "" "" "" "" "" "" "" "" "0000058584" "03021" "00078825" "00006" "Unknown" "" "raised CPK (HP:0003236) 4400; >59y walking (-HP:0006957)" "43y" "" "" "" "" "" "" "" "" "" "" "0000058585" "03309" "00078826" "00006" "Unknown" "" "ischemic heart disease father; raised CPK (HP:0003236) 3256; >58y walking (-HP:0006957)" "39y" "" "" "" "" "" "" "" "" "" "" "0000058586" "03021" "00078827" "00006" "Unknown" "" "raised CPK (HP:0003236) 1058; >45y walking (-HP:0006957)" "42y" "" "" "" "" "" "" "" "" "" "" "0000058587" "03021" "00078828" "00006" "Unknown" "" "ambulatory with support; raised CPK (HP:0003236) 936; >46y walking (-HP:0006957)" "20y" "" "" "" "" "" "" "" "" "" "" "0000058588" "01273" "00078829" "00006" "Unknown" "" "raised CPK (HP:0003236) 3131; >42y walking (-HP:0006957)" "" "" "" "" "" "" "" "" "" "" "" "0000058589" "01273" "00078830" "00006" "Unknown" "" "raised CPK (HP:0003236) 4898; >47y walking (-HP:0006957)" "20y" "" "" "" "" "" "" "" "" "" "" "0000058590" "03021" "00078831" "00006" "Unknown" "" "raised CPK (HP:0003236) 2500-4500; >52y walking (-HP:0006957)" "43y" "" "thigh weakness/wasting" "" "" "" "" "" "" "" "" "0000058591" "03021" "00078832" "00006" "Unknown" "" "raised CPK (HP:0003236) 686; >42y walking (-HP:0006957)" "23y" "" "left calf wasting" "" "" "" "" "" "" "" "" "0000058592" "03021" "00078833" "00006" "Unknown" "" "hypertrophic calves; raised CPK (HP:0003236) 784-987; >69y walking (-HP:0006957)" "40y" "" "thigh weakness" "" "" "" "" "" "" "" "" "0000058593" "03021" "00078834" "00006" "Unknown" "" "raised CPK (HP:0003236) 1717-3000; >55y walking (-HP:0006957)" "38y" "" "right calf wasting" "" "" "" "" "" "" "" "" "0000058594" "03021" "00078835" "00006" "Unknown" "" "muscle pain, axial weakness; raised CPK (HP:0003236) 1200-2200; >64y walking (-HP:0006957)" "45y" "" "thigh weakness/wasting" "" "" "" "" "" "" "" "" "0000058595" "01273" "00078836" "00006" "Unknown" "" "raised CPK (HP:0003236) 4000; >39y walking (-HP:0006957)" "" "" "" "" "" "" "" "" "" "" "" "0000058596" "03021" "00078837" "00006" "Unknown" "" "raised CPK (HP:0003236) 300-2000; >58y walking (-HP:0006957)" "<50y" "" "raised CK" "" "" "" "" "" "" "" "" "0000058597" "03021" "00078838" "00006" "Unknown" "" "raised CPK (HP:0003236) 1700-2900; >29y walking (-HP:0006957)" "23y" "" "calf stiffness" "" "" "" "" "" "" "" "" "0000058598" "01273" "00078839" "00006" "Unknown" "" "raised CPK (HP:0003236) 3300-5400; >19y walking (-HP:0006957)" "" "" "" "" "" "" "" "" "" "" "" "0000058599" "03021" "00078840" "00006" "Unknown" "" "raised CPK (HP:0003236) 4200-22000; >32y walking (-HP:0006957)" "21y" "" "reduced endurance, distal weakness" "" "" "" "" "" "" "" "" "0000058600" "00198" "00078841" "00006" "Unknown" "" "asymptomatic, screened through familial investigations; raised CPK (HP:0003236) 1970; >13y walking (-HP:0006957)" "" "" "" "" "" "" "" "" "" "" "" "0000058601" "00198" "00078842" "00006" "Unknown" "" "asymptomatic, screened through familial investigations; raised CPK (HP:0003236) 861; >23y walking (-HP:0006957)" "21y" "" "postexertional myalgia" "" "" "" "" "" "" "" "" "0000058602" "03021" "00078843" "00006" "Unknown" "" "knee hyperextension, calf pseudohypertrophy; raised CPK (HP:0003236) 2122; >63y walking (-HP:0006957)" "<60y" "" "walking difficulties" "" "" "" "" "" "" "" "" "0000058603" "05106" "00078844" "00006" "Unknown" "" "myopathy, distal, calf" "" "" "" "" "" "" "" "" "" "" "" "0000058604" "01273" "00078845" "00006" "Unknown" "" "raised CPK (HP:0003236) 3000-4000" "" "" "" "" "" "" "" "" "" "" "" "0000058605" "01273" "00078846" "00006" "Unknown" "" "raised CPK (HP:0003236) 3000-4000" "" "" "" "" "" "" "" "" "" "" "" "0000058606" "05106" "00078847" "00006" "Unknown" "" "myopathy, distal, calf; weakness proximal upper/lower limbs" "" "" "" "" "" "" "" "" "" "" "" "0000058607" "05106" "00078848" "00006" "Unknown" "" "myopathy, distal, calf; weakness proximal lower limbs" "" "" "" "" "" "" "" "" "" "" "" "0000058608" "05106" "00078849" "00006" "Unknown" "" "myopathy, distal, calf; weakness proximal lower limbs" "" "" "" "" "" "" "" "" "" "" "" "0000058609" "05106" "00078850" "00006" "Unknown" "" "myopathy, distal, calf; weakness proximal/distal lower limbs" "" "" "" "" "" "" "" "" "" "" "" "0000058610" "05106" "00078851" "00006" "Unknown" "" "myopathy, distal, calf" "" "" "" "" "" "" "" "" "" "" "" "0000058611" "05106" "00078852" "00006" "Unknown" "" "myopathy, distal, calf" "" "" "" "" "" "" "" "" "" "" "" "0000058612" "05106" "00078853" "00006" "Unknown" "" "myopathy, distal, calf" "" "" "" "" "" "" "" "" "" "" "" "0000058613" "05106" "00078854" "00006" "Unknown" "" "myopathy, distal, calf; highCK, occasional lymphocytic infiltrations; raised CPK (HP:0003236) high" "" "" "" "" "" "" "" "" "" "" "" "0000058614" "05106" "00078855" "00006" "Unknown" "" "myopathy, distal, calf; weakness proximal lower limbs" "" "" "" "" "" "" "" "" "" "" "" "0000058615" "05106" "00078856" "00006" "Unknown" "" "myopathy, distal, calf; weakness proximal lower limbs" "" "" "" "" "" "" "" "" "" "" "" "0000058616" "05106" "00078857" "00006" "Unknown" "" "myopathy, distal, calf" "" "" "" "" "" "" "" "" "" "" "" "0000058617" "05106" "00078858" "00006" "Unknown" "" "myopathy, distal, calf" "" "" "" "" "" "" "" "" "" "" "" "0000058618" "05106" "00078859" "00006" "Unknown" "" "myopathy, distal, calf; atrophy, weakness right biceps brachii muscle at onset, mild atrophy right posterior thigh compartment when first examined" "" "" "" "" "" "" "" "" "" "" "" "0000058619" "05121" "00078860" "00006" "Isolated (sporadic)" "" "adult onset weakness proximal muscle, atrophy shoulder girdle/lower limbs, Trendelenbur/ Gower signs; EMG myopathy; raised CPK (HP:0003236) 3184 U/l; >35y walking (-HP:0006957)" "24y" "" "walking difficulties" "" "" "" "" "" "" "" "" "0000058620" "05121" "00078861" "00006" "Isolated (sporadic)" "" "adult onset, progressive, weakness and atrophy hamstrings and lower limbs; raised CPK (HP:0003236) 9809 U/l; >49y walking (-HP:0006957)" "30y" "" "calf muscle atrophy" "" "" "" "" "" "" "" "" "0000058621" "01273" "00078862" "00006" "Isolated (sporadic)" "" "no muscle weakness, atrophy, no caridaic/pulmonary involvement; MRI muscle fatty degeneration; raised CPK (HP:0003236) 3442 U/l; >38y walking (-HP:0006957)" "34y" "" "elevated liver enzymes" "" "" "" "" "" "" "" "" "0000058622" "05121" "00078863" "00006" "Isolated (sporadic)" "" "adult onset, MRI muscle asymmetric fatty degeneration biceps femoris; raised CPK (HP:0003236) 9000 U/l; >54y walking (-HP:0006957)" "54y" "" "weakness/atrophy quadriceps femoris/medial calf muscles" "" "" "" "" "" "" "" "" "0000058623" "05126" "00078864" "00006" "Isolated (sporadic)" "" "lower limbs affected; atrophy quadriceps, posterior compartment; muscle weakness quadriceps/biceps femorii; no calf pseudo hypertrophy, no cramps, no myalgia, no cardiac involvement, no respiratory involvement; EMG myopatic; raised CPK (HP:0003236) 6-11x; >47y walking (-HP:0006957)" "39y" "" "myoglobinuria" "" "" "" "" "" "" "" "" "0000058624" "05126" "00078865" "00006" "Isolated (sporadic)" "" "distal involvement, atrophy harmstrings/quadriceps, muscle weakness quadriceps/biceps femorii; calf pseudo hypertrophy, cramps, myalgia, no myoglobinuria, no cardiac involvement, no respiratory involvement; EMG myopatic; raised CPK (HP:0003236) 5-32x; >51y walking (-HP:0006957)" "15y" "" "mild weakness" "" "" "" "" "" "" "" "" "0000058625" "05126" "00078866" "00006" "Isolated (sporadic)" "" "almost asymptomatic, lower lower limbs, atrophy harmstrings/quadriceps, muscle weakness biceps femorii; calf pseudo hypertrophy, no cramps, no myalgia, myoglobinuria, no cardiac involvement, no respiratory involvement; EMG myopatic; raised CPK (HP:0003236) 15-31x; >43y walking (-HP:0006957)" "33y" "" "hyperCKemia, asymptomatic" "" "" "" "" "" "" "" "" "0000058626" "05126" "00078867" "00006" "Isolated (sporadic)" "" "lower limbs affected, atrophy quadriceps, muscle weakness quadriceps; calf pseudo hypertrophy, cramps, myalgia, no cardiac involvement, no respiratory involvement; EMG myopatic; raised CPK (HP:0003236) 16x; >45y walking (-HP:0006957)" "28y" "" "fatigability, cramps" "" "" "" "" "" "" "" "" "0000058627" "01273" "00078868" "00006" "Isolated (sporadic)" "" "no atrophy, no muscle weakness, no calf pseudo hypertrophy, no cramps, no myalgia, no myoglobinuria, no cardiac involvement, no respiratory involvement; EMG ?; raised CPK (HP:0003236) 3x; >47y walking (-HP:0006957)" "" "" "" "" "" "" "" "" "" "" "" "0000058628" "05126" "00078869" "00006" "Isolated (sporadic)" "" "four limbs affected, atrophy asymmetric quadriceps, muscle weakness quadriceps, no calf pseudo hypertrophy, cramps, myalgia, myoglobinuria, no cardiac involvement, no respiratory involvement; EMG myopathic; raised CPK (HP:0003236) 2x; >50y walking (-HP:0006957)" "47y" "" "myalgias,hyposthenia" "" "" "" "" "" "" "" "" "0000058629" "03021" "00078870" "00464" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058630" "05126" "00078871" "00006" "Isolated (sporadic)" "" "onset young adult; muscular histopathology dystrophic features, discrete mitochondrial alterations with sporadic ragged-red fibers,cytochrome c oxidase negative fibers" "" "" "" "" "" "" "" "" "" "" "" "0000058631" "03021" "00078872" "00464" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058633" "05126" "00078874" "00464" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058634" "05126" "00078875" "00464" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058635" "05126" "00078876" "01700" "Familial" "" "muscle biopsy shows evidence of end stage muscle features; raised CPK (HP:0003236) moderately elevated" "09y" "" "" "" "" "" "" "" "LGMD2I" "LGMD" "" "0000058636" "05126" "00078877" "01700" "Familial" "" "muscle biopsy shows mild dystrophic process with 30% internal nuclei; raised CPK (HP:0003236) highly elevated" "15y" "" "" "" "" "" "" "" "" "" "" "0000128132" "04285" "00155749" "02408" "Familial, autosomal recessive" "68y" "39y-shoulder pain, exercise intolerance; developed progressive weakness affecting proximal upper and lower limbs, scapular winging; 56y-wheelchair bound; elevated CK 4059 IU/L; EMG myopathic with fibrillation potentials; muscle biopsy dystrophic, large number lobulated fibres" "39y" "" "" "" "" "" "" "" "LGMD2A" "LGMD" "" "0000139569" "05126" "00174742" "00006" "Isolated (sporadic)" "22y" "onset overt symptoms early adulthood; CPK raised 23x; myalgia, exercise intolerance, fatigability; mild generalized muscle hypertrophy, calf asymmetry; minimal weakness, ambulation normal" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000139570" "05126" "00174743" "00006" "Familial, autosomal recessive" "54y" "onset overt symptoms early adulthood; CPK raised 19x; progressive limb-girdle weakness with myalgia, exercise intolerance, fatigability; thigh muscle atrophy, knee hyperextension; ambulation difficult with 2 crutches" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000155723" "00198" "00207953" "01164" "Unknown" "" "HP:0006785 (Limb-girdle muscular dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000157416" "00198" "00208804" "01164" "Unknown" "" "HP:0001430 (Abnormality of the calf musculature); HP:0002814 (Abnormality of the lower limb)" "" "" "" "" "" "" "" "" "" "" "" "0000172138" "05126" "00228208" "00399" "Familial, autosomal recessive" "48y" "muscle weakness lower extrimities proximodistal; involvement proximal muscles upper limb/shoulder girdle in disease course; serum CK 2204; no caridac involvement" "" "" "" "no muscle available" "" "" "" "" "LGMD2L" "LGMD" "" "0000172139" "05126" "00228209" "00399" "Familial, autosomal recessive" "72y" "muscle weakness lower extrimities proximodistal; involvement proximal muscles upper limb/shoulder girdle in disease course; serum CK 1291; 74y-lost ambulation; caridac involvement" "" "" "" "no muscle available" "" "" "" "" "LGMD2L" "LGMD" "" "0000172140" "05126" "00228210" "00399" "Familial, autosomal recessive" "40y" "muscle weakness lower extrimities proximodistal; involvement proximal muscles upper limb/shoulder girdle at presentation; serum CK 1516; no caridac involvement" "" "" "" "no muscle available" "" "" "" "" "LGMD2L" "LGMD" "" "0000172141" "05126" "00228211" "00399" "Familial, autosomal recessive" "34y" "muscle weakness lower extrimities proximal; involvement proximal muscles upper limb/shoulder girdle in disease course; serum CK 2464; 64y-lost ambulation" "" "" "" "no muscle available" "" "" "" "" "LGMD2L" "LGMD" "" "0000172142" "05126" "00228212" "00399" "Familial, autosomal recessive" "25y" "muscle weakness lower extrimities proximal; involvement proximal muscles upper limb/shoulder girdle at presentation; serum CK 1400; no caridac involvement" "" "" "" "no muscle available" "" "" "" "" "LGMD2L" "LGMD" "" "0000172143" "05126" "00228213" "00399" "Familial, autosomal recessive" "31y" "muscle weakness lower extrimities proximal; no involvement proximal muscles upper limb/shoulder girdle; serum CK 5700; no caridac involvement; no non-invasive ventilation" "" "" "" "no muscle available" "" "" "" "" "LGMD2L" "LGMD" "" "0000172144" "05126" "00228214" "00399" "Familial, autosomal recessive" "30y" "muscle weakness lower extrimities distal; no involvement proximal muscles upper limb/shoulder girdle; serum CK 8000; no caridac involvement" "" "" "" "no muscle available" "" "" "" "" "LGMD2L" "LGMD" "" "0000172145" "05126" "00228215" "00399" "Familial, autosomal recessive" "48y" "muscle weakness lower extrimities distal; no involvement proximal muscles upper limb/shoulder girdle; serum CK 549; caridac involvement" "" "" "" "no muscle available" "" "" "" "" "LGMD2L" "LGMD" "" "0000203340" "05121" "00265553" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "LGMD-2L" "dysferlinopathy" "" "0000203435" "05126" "00265648" "00006" "Unknown" "35y" "asymmetrical calves muscles atrophy and weakness; elevated CK (9500 U/l); biopsy Muscular dystrophy, normal IHC" "" "" "" "" "" "" "" "" "" "LGMD" "" "0000203952" "00198" "00266177" "01164" "Unknown" "" "Elevated serum creatine phosphokinase (HP:0003236)" "" "" "" "" "" "" "" "" "" "" "" "0000209253" "05126" "00274308" "00006" "Familial, autosomal recessive" "" "elevated CK level (2,000-6,000); muscle histology dystrophic; arrhythmia, ablation; ambulatory" "34y" "" "" "" "" "" "" "" "" "LGMD" "" "0000209254" "05126" "00274309" "00006" "Familial, autosomal recessive" "" "elevated CK level (1,000-2,000); muscle histology dystrophic; no cardiac/respiratory complications; ambulatory" "18y" "" "" "" "" "" "" "" "" "LGMD" "" "0000209255" "05126" "00274310" "00006" "Familial, autosomal recessive" "" "elevated CK level (1,000-2,000); muscle histology dystrophic; no cardiac/respiratory complications; ambulatory" "40y" "" "" "" "" "" "" "" "" "LGMD" "" "0000222765" "00244" "00289132" "00006" "Familial, autosomal recessive" "" "LGMD" "" "" "" "" "" "" "" "" "LGMD2L" "myopathy" "" "0000229969" "00198" "00302891" "01807" "Unknown" "" "Muscular dystrophy (HP:0003560)" "" "" "" "" "" "" "" "" "" "" "" "0000231714" "05126" "00305868" "00006" "Unknown" "52y" "mild (MRC grade ≥4/5); lower limbs more severe than upper limbs; distal weakness; elevated serum CK (max. 3245 IU/L); biopsy dystrophic; lobulated fiber; 　" "47y" "" "" "IHC DMD absent/reduced　　" "" "" "" "" "LGMDR12" "limb-girdle muscular dystrophy" "" "0000237059" "00244" "00311804" "00006" "Familial, autosomal recessive" "23y" "see paper; ..., myalgia, fatigability, no motor deficit, slightly hypertrophic calves; raised CK 1500-5000 UI/L; EMG normal; pulmonary evaluation normal" "10y" "" "asymptomatic hyperCKemia, exercise induced fatigability" "" "" "" "" "" "" "myopathy" "" "0000237060" "00244" "00311805" "00006" "Familial, autosomal recessive" "22y" "see paper; ..., asymptomatic, raised CK 1500-5000 UI/L; EMG normal; pulmonary evaluation normal" "" "" "" "" "" "" "" "" "" "asymptomatic" "" "0000237061" "00244" "00311806" "00006" "Familial, autosomal recessive" "56y" "see paper; ..., predominant proximal myalgia four extremities, axial weakness; raised CK 1500-1700 UI/L; EMG myogenic; pulmonary evaluation normal" "42y" "" "myalgia 4 extremities, fatigability" "" "" "" "" "" "" "myopathy" "" "0000237062" "00244" "00311807" "00006" "Familial, autosomal recessive" "88y" "see paper; ..., proxo-distal motor deficit lower limbs, calf size asymmetry, scapular winging; raised CK 987 UI/L; EMG myogenic; pulmonary evaluation normal" "85y" "" "progressive walking difficulties" "" "" "" "" "" "" "myopathy" "" "0000237063" "00244" "00311808" "00006" "Familial, autosomal recessive" "42y" "see paper; ..., predominant proximal myalgia four extremities, hip girdle and lower limbs weakness; raised CK 1160-1600 UI/L; EMG myogenic; pulmonary evaluation normal" "42y" "" "back pain, progressive walking difficulties" "" "" "" "" "" "" "myopathy" "" "0000237064" "01273" "00311809" "00006" "Familial, autosomal recessive" "49y" "see paper; ..., chest pain, raised CK, severe myalgia at rest, exacerbated by mild physical activity, fluctuating muscle weakness, especially after exertion; single episode unprovoked rhabdomyolysis and myoglobinuria requiring hospitalization; well‐controlled diabetes mellitus, inguinal hernia repair" "37y" "" "chest pain" "" "" "" "" "" "" "hyperCKemia" "" "0000237091" "00244" "00311843" "00006" "Familial, autosomal recessive" "56y" "limb-girdle weakness; no asymmetrical weakness quadriceps; muscle weakness, proximal and distal muscles equally affected; calf atrophy; no neck muscle weakness; exercise-induced myalgia; rhabdomyolysis, myoglobinuria" "" "" "exercise intolerance" "" "" "" "" "" "" "muscle weakness" "" "0000237092" "00244" "00311844" "00006" "Familial, autosomal recessive" "45y" "limb-girdle weakness; asymmetrical weakness quadriceps; no distal weakness; calf atrophy; mild neck muscle weakness distal greater than proximal; no exercise-induced myalgia; no rhabdomyolysis, myoglobinuria" "38y" "" "asymmetric muscle atrophy with normal strength" "" "" "" "" "" "" "muscle weakness" "" "0000237093" "00244" "00311845" "00006" "Familial, autosomal recessive" "51y" "limb-girdle weakness; asymmetrical weakness quadriceps; no distal weakness; calf atrophy; no neck muscle weakness; exercise-induced myalgia; no rhabdomyolysis, myoglobinuria" "41y" "" "asymmetric muscle atrophy with normal strength" "" "" "" "" "" "" "muscle weakness" "" "0000237094" "00244" "00311846" "00006" "Familial, autosomal recessive" "32y" "limb-girdle weakness; no asymmetrical weakness quadriceps; no distal weakness; no calf atrophy; mild neck flexor muscle weakness, moderate neck extensor muscle weakness; exercise-induced myalgia; no rhabdomyolysis, myoglobinuria" "23y" "" "myalgia, hyperCKemia" "" "" "" "" "" "" "muscle weakness" "" "0000237095" "00244" "00311847" "00006" "Familial, autosomal recessive" "69y" "limb-girdle weakness; asymmetrical weakness quadriceps; muscle weakness, distal greater than proximal; calf atrophy; no neck muscle weakness; no exercise-induced myalgia; no rhabdomyolysis, myoglobinuria; brother had limb‐girdle weakness" "29y" "" "asymptomatic hyperCKemia" "" "" "" "" "" "" "muscle weakness" "" "0000237096" "00244" "00311848" "00006" "Familial, autosomal recessive" "51y" "limb-girdle weakness; no asymmetrical weakness quadriceps; no distal weakness; no calf atrophy; no neck muscle weakness; exercise-induced myalgia; no rhabdomyolysis, myoglobinuria" "24y" "" "asymptomatic hyperCKemia" "" "" "" "" "" "" "muscle weakness" "" "0000237097" "00244" "00311849" "00006" "Familial, autosomal recessive" "57y" "limb-girdle weakness; no asymmetrical weakness quadriceps; no distal weakness; calf atrophy; no neck muscle weakness; exercise-induced myalgia; no rhabdomyolysis, myoglobinuria; brother more severe limb‐girdle weakness with asymmetric weakness and atrophy quadriceps and gastrocnemius" "33y" "" "asymptomatic hyperCKemia" "" "" "" "" "" "" "muscle weakness" "" "0000237982" "05126" "00313661" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000237983" "05126" "00313662" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000237984" "05126" "00313663" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238083" "05126" "00313762" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238084" "05126" "00313763" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238085" "05126" "00313764" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238086" "05126" "00313765" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238087" "05126" "00313766" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238115" "05126" "00313792" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 3768 U/L; no cardiac involvement" "33y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238116" "05126" "00313793" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 6815 U/L; no cardiac involvement" "39y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238117" "05126" "00313794" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 4900 U/L; no cardiac involvement" "29y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238118" "05126" "00313795" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 755 U/L; no cardiac involvement" "50y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238119" "05126" "00313796" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 10490 U/L; no cardiac involvement" "42y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238120" "05126" "00313797" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 2390 U/L; no cardiac involvement" "36y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238121" "05126" "00313798" "00399" "Familial, autosomal recessive" "" "nomuscle weakness lower extremity; serum CK 2265 U/L" "39y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238122" "05126" "00313799" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 2863 U/L; no cardiac involvement" "31y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238123" "05126" "00313800" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 6153 U/L; no cardiac involvement" "32y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238124" "05126" "00313801" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 1000 U/L; 66y-loss ambulation; cardiac involvement" "22y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238125" "05126" "00313802" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 2555 U/L" "42y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238126" "05126" "00313803" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 943 U/L; no cardiac involvement" "57y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238127" "05126" "00313804" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 1300 U/L; no cardiac involvement" "32y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238128" "05126" "00313805" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 2000 U/L; 58y-loss ambulation; no cardiac involvement" "32y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238129" "05126" "00313806" "00399" "Familial, autosomal recessive" "" "nomuscle weakness lower extremity; serum CK 3762 U/L; no cardiac involvement" "10y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238130" "05126" "00313807" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 1090 U/L; 53y-loss ambulation; no cardiac involvement" "45y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238131" "05126" "00313808" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 3905 U/L; no cardiac involvement" "33y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238132" "05126" "00313809" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 3175 U/L; no cardiac involvement" "29y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238133" "05126" "00313810" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 4160 U/L; 43y-loss ambulation; no cardiac involvement" "22y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238134" "05126" "00313811" "00399" "Familial, autosomal recessive" "" "nomuscle weakness lower extremity; serum CK 5200 U/L; no cardiac involvement" "25y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238135" "05126" "00313812" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 5301 U/L; no cardiac involvement" "45y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238136" "05126" "00313813" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 2900 U/L; cardiac involvement" "45y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238137" "05126" "00313814" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 1310 U/L; no cardiac involvement" "45y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238138" "05126" "00313815" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 2500 U/L; no cardiac involvement" "39y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238139" "05126" "00313816" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 3850 U/L; 67y-loss ambulation; no cardiac involvement" "33y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238140" "05126" "00313817" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 5700 U/L; no cardiac involvement" "38y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238141" "05126" "00313818" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 4114 U/L; cardiac involvement" "32y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238142" "05126" "00313819" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 3040 U/L; no cardiac involvement" "25y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238143" "05126" "00313820" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 1847 U/L" "55y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238144" "05126" "00313821" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 906 U/L; no cardiac involvement" "16y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238145" "05126" "00313822" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 3241 U/L; no cardiac involvement" "27y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238146" "05126" "00313823" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 4056 U/L; no cardiac involvement" "43y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238147" "05126" "00313824" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 1794 U/L; no cardiac involvement" "54y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238148" "05126" "00313825" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 1068 U/L; no cardiac involvement" "22y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238149" "05126" "00313826" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 7300 U/L; no cardiac involvement" "48y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238150" "05126" "00313827" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 6300U/L; 30y-loss ambulation" "12y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238151" "05126" "00313828" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 1750 U/L" "41y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238152" "05126" "00313829" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 516 U/L; no cardiac involvement" "38y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238153" "05126" "00313830" "00399" "Familial, autosomal recessive" "" "nomuscle weakness lower extremity; serum CK 9286 U/L" "23y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238154" "05126" "00313831" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 3258 U/L" "40y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238155" "05126" "00313832" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 584 U/L; no cardiac involvement" "45y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238156" "05126" "00313833" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK elevated U/L" "70y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238157" "05126" "00313834" "00399" "Familial, autosomal recessive" "" "nomuscle weakness lower extremity; serum CK 1894 U/L; no cardiac involvement" "35y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238158" "05126" "00313835" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 1040 U/L" "21y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238159" "05126" "00313836" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 6852 U/L; no cardiac involvement" "37y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238160" "05126" "00313837" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 962 U/L; 57y-loss ambulation; cardiac involvement" "22y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238161" "05126" "00313838" "00399" "Familial, autosomal recessive" "" "nomuscle weakness lower extremity; serum CK 670 U/L; no cardiac involvement" "56y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238162" "05126" "00313839" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 4941 U/L; no cardiac involvement" "49y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238163" "05126" "00313840" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 6000 U/L; no cardiac involvement" "22y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238164" "05126" "00313841" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 2660 U/L" "57y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238165" "05126" "00313842" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 2303 U/L; cardiac involvement" "48y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238166" "05126" "00313843" "00399" "Familial, autosomal recessive" "" "nomuscle weakness lower extremity; serum CK 2607 U/L; no cardiac involvement" "30y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238167" "05126" "00313844" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 2868 U/L; no cardiac involvement" "13y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238168" "05126" "00313845" "00399" "Familial, autosomal recessive" "" "nomuscle weakness lower extremity; serum CK 938 U/L; no cardiac involvement" "11y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238169" "05126" "00313846" "00399" "Familial, autosomal recessive" "" "nomuscle weakness lower extremity; serum CK 1076 U/L" "6y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000238170" "05126" "00313847" "00399" "Familial, autosomal recessive" "" "muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 1455 U/L; no cardiac involvement" "47y" "" "" "" "" "" "" "" "LGMD2L" "limb-girdle muscular dystrophy" "" "0000257311" "03021" "00361913" "04047" "Familial, autosomal recessive" "" "Muscle weakness (HP:0001324)" "" "" "" "" "" "" "" "" "" "" "" "0000269401" "00198" "00374191" "00006" "Familial, autosomal recessive" "" "Proximal muscle weakness, calf muscle hypertrophy, inability to walk and increased CPK levels suggestive of LGMD" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000282154" "00244" "00388614" "00006" "Familial, autosomal recessive" "27y" "distal muscle weakness, proximal muscle weakness; CK level 6390 IU/L; difficulty running, change in gait, wasting of calves, biceps lump; most-affected muscles: Gastrocnemius, Iliopsoas, hip adductors, hamstrings, and quadriceps; 27y-ambulant" "20y" "" "" "IHC no DYSF" "" "" "" "" "" "" "" "0000282204" "00244" "00388664" "00006" "Familial, autosomal recessive" "55y" "distal muscle weakness; CK level 4100 IU/L; Long periods of Myalgias and difficulty running;Asymmetric wasting of calves; Most-affected muscles: Gastrocnemius" "25y" "" "" "" "" "" "" "" "" "" "" "0000282205" "00244" "00388665" "00006" "Familial, autosomal recessive" "28y" "distal muscle weakness; CK level 1626 IU/L; Long periods of Myalgias and difficulty running;Asymmetric wasting of calves; Most-affected muscles: Gastrocnemius" "21y" "" "" "" "" "" "" "" "" "" "" "0000282206" "00244" "00388666" "00006" "Familial, autosomal recessive" "40y" "distal muscle weakness; CK level 4000 IU/L; Long periods of Myalgias and difficulty running;Asymmetric wasting of calves; Most-affected muscles: Gastrocnemius" "30y" "" "" "" "" "" "" "" "" "" "" "0000285265" "05324" "00391975" "03501" "Unknown" "28y" "Gowers sign (HP:0003391), frequent falls (HP:0002359), difficulty climbing stairs (HP:0003551), difficulty walking (HP:0002355), waddling gait (HP:0002515)" "20y" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000285321" "05324" "00392031" "03501" "Unknown" "16y" "difficulty climbing stairs (HP:0003551), difficulty walking (HP:0002355), Gowers sign (HP:0003391), calf muscle hypertrophy (HP:0008981), proximal muscle weakness (HP:0003701), waddling gait (HP:0002515), toe walking (HP:0040083), frequent falls (HP:0002359)" "7y" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000292052" "03021" "00398963" "02291" "Familial, autosomal recessive" "47y" "see paper; ..., limb-girdle weakness; no distal weakness; raised CK (2300 U/L); no exercise-induced myalgia; no rhabdomyolysis; muscle biopsy no necrosis, no regeneration, no nuclei internalization, no endomysial inflammation, no partial invasion muscle cells, no ragged-red fibers (prominent), lipid accumulation; MRI muscle thigh muscle edema, thigh muscles fatty replacement, edema of lower leg muscles, no fatty replacement of lower leg muscles" "33y" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000292053" "05121" "00398964" "00006" "Familial, autosomal recessive" "45y" "see paper; ..., no limb-girdle weakness; distal weakness; raised CK (4100 U/L); exercise-induced myalgia; no rhabdomyolysis; muscle biopsy necrosis, regeneration, nuclei internalization, no endomysial inflammation, no partial invasion muscle cells, no ragged-red fibers (prominent), no lipid accumulation; MRI muscle no thigh muscle edema, no thigh muscles fatty replacement, edema of lower leg muscles, no fatty replacement of lower leg muscles" "43y" "" "" "" "" "" "" "" "MMD3" "" "" "0000292054" "00198" "00398965" "00006" "Unknown" "56y" "see paper; ..., no limb-girdle weakness; no distal weakness; raised CK (1800 U/L); exercise-induced myalgia; no rhabdomyolysis; muscle biopsy necrosis, no regeneration, nuclei internalization, endomysial inflammation, partial invasion muscle cells, ragged-red fibers (prominent), no lipid accumulation" "50y" "" "" "" "" "" "" "" "" "asymptomatic hyperCKemia" "" "0000292157" "05618" "00399069" "00006" "Unknown" "" "serum CK 1121 U/L; muscle biopsy myopathic changes" "19y" "" "" "" "" "" "" "" "" "misdiagnosed myasthenia gravis" "" "0000292182" "05618" "00399094" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dytrophy" "" "0000292197" "05618" "00399109" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dytrophy" "" "0000292199" "05618" "00399111" "00006" "Unknown" "" "serum CK 1200 U/L; muscle biopsy myopathic changes; bilateral and posterior symmetric involvement thighs" "61y" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000295173" "03021" "00402410" "01929" "Familial, autosomal recessive" "32y" "LGMD, myalgia" "30y" "34y" "" "" "" "" "" "" "LGMDR12-ANO5 related" "LGMW" "" "0000302642" "00198" "00410539" "00006" "Familial, autosomal recessive" "" "see paper; ..., onset adolescence, muscle weakness, myalgia, elevated CK, no family history" "" "" "" "" "" "" "" "" "LGMD2L;LGMDR12" "" "" "0000304599" "05126" "00412607" "00053" "Unknown" "" "" "" "" "12y" "" "" "" "" "" "" "Muscular dystrophy, limb-girdle (LGMD)" "" "0000305072" "00244" "00413091" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LGMDR12" "hCK, arrhythmia" "" "0000307326" "05126" "00415546" "00006" "Unknown" "" "normal CPK, EMG suggestive of generalized myopathy" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000310755" "00198" "00419474" "02300" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "" "neuromuscular abnormality" "" "0000310875" "00198" "00419594" "02300" "Familial, autosomal recessive" "49y" "" "" "" "" "" "" "" "" "" "" "neuromuscular abnormality" "" "0000310876" "00198" "00419595" "02300" "Familial, autosomal recessive" "37y" "" "" "" "" "" "" "" "" "" "" "neuromuscular abnormality" "" "0000310877" "00198" "00419596" "02300" "Familial, autosomal recessive" "14y" "" "" "" "" "" "" "" "" "" "" "neuromuscular abnormality" "" "0000310878" "00198" "00419597" "02300" "Familial, autosomal recessive" "38y" "" "" "" "" "" "" "" "" "" "" "neuromuscular abnormality" "" "0000321248" "05618" "00430451" "00006" "Familial, autosomal recessive" "18y6m" "muscle weakness" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000321275" "05618" "00430478" "00006" "Unknown" "24y" "hyperCKemia, proximal and distal weakness, myopathy" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000321280" "05618" "00430483" "00006" "Unknown" "13y" "hyperCKemia, proximal and distal weakness, myopathy" "" "" "" "" "" "" "" "" "" "" "" "0000328432" "05121" "00438529" "00006" "Familial, autosomal recessive" "18y6m" "muscle weakness" "" "" "" "" "" "" "" "" "" "muscular dystrophy/myopathy" "" "0000328459" "05121" "00438556" "00006" "Unknown" "24y" "hyperCKemia, proximal and distal weakness, myopathy" "" "" "" "" "" "" "" "" "" "muscular dystrophy/myopathy" "" "0000328464" "05121" "00438561" "00006" "Unknown" "13y" "hyperCKemia, proximal and distal weakness, myopathy" "" "" "" "" "" "" "" "" "" "muscular dystrophy/myopathy" "" "0000331978" "05618" "00442631" "00006" "Familial, autosomal recessive" "44y" "Rhabdomyolysis, calf hypertrophy, exercise-induced myalgia and cramps; muscle biopsy: increase in internal nuclei; CK = 16567 U/l" "34y" "" "" "" "" "" "" "" "" "Myopathy" "" "0000331979" "05618" "00442632" "00006" "Familial, autosomal recessive" "44y" "Limb-girdle weakness; muscle biopsy: increase in fiber type variation (type 1 predominance) and increase in internal nuclei, sporadic necrotic fibers and signs of regeneration; CK = 1732 U/l" "42y" "" "" "" "" "" "" "" "" "Myalgia, silent muscle cramps, asthma, unilateral deafness" "" "0000331980" "05618" "00442633" "00006" "Familial, autosomal recessive" "56y" "onset childhood; exercise intolerance, myalgia, fatigue, mild weakness in legs; increase in internal nuclei and few necrotic fibers; muscle biopsy: increased alanine, biochemical analysis: reduced ATP production, deficiency of complex III" "" "" "" "" "" "" "" "" "" "Exercise intolerance and cardiomyopathy" "" "0000332051" "05618" "00442704" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000332052" "05618" "00442705" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Myasthenic syndrome" "" "0000343737" "00141" "00455145" "00006" "Familial, autosomal recessive" "33y" "see paper; ..., myopathic pattern; 1st muscle weakness pelvic-femoral girdles; muscle weakness pelvic-femoral girdles; still ambulant; no contractures ; serum CK level 96 ukat/l" "12y" "" "" "normal IHC" "" "" "" "" "LGMDR12" "limb-girdle muscular dystrophy" "" "0000343738" "00141" "00455146" "00006" "Familial, autosomal recessive" "49y" "see paper; ..., fat and fibrous tissue; 1st muscle weakness shoulder and pelvic-femoral girdles; muscle weakness shoulder and pelvic-femoral girdles, trunk muscles; still ambulant; no contractures ; hyperlordosis" "45y" "" "" "" "" "" "" "" "LGMDR12" "limb-girdle muscular dystrophy" "" "0000343739" "00141" "00455147" "00006" "Familial, autosomal recessive" "28y" "see paper; ..., mild dystrophic pattern; muscle weakness shoulder and pelvic-femoral girdles" "" "" "" "normal IHC" "" "" "" "" "LGMDR12" "limb-girdle muscular dystrophy" "" "0000347991" "01273" "00460262" "00006" "Unknown" "0y-9y" "asymptomatic, hyperCKemia; elevated CK level 2000-4000 UI/L" "" "" "" "" "" "" "" "" "" "asymptomatic, hyperCKemia" "" "0000348004" "01273" "00460275" "00006" "Unknown" "10y-18y" "asymptomatic, hyperCKemia; elevated CK level 800-6800 UI/L; non-specific myopathic features; MRI muscle focal fat replacement medial gastrocnemiu; EMG myopathic" "" "" "" "IHC normal sarcolemma immunostaining" "" "" "" "" "" "asymptomatic, hyperCKemia" "" "0000348011" "01273" "00460282" "00006" "Unknown" "10y-18y" "asymptomatic, hyperCKemia; elevated CK level 4000-6000 UI/L; dystrophic features; MRI muscle focal fat replacement medial gastrocnemiu; EMG normal" "" "" "" "IHC normal sarcolemma immunostaining" "" "" "" "" "" "asymptomatic, hyperCKemia" "" "0000348017" "01273" "00460288" "00006" "Unknown" "10y-18y" "asymptomatic, hyperCKemia; elevated CK level 5600-10200 UI/L; mitochondrial features; MRI muscle focal fat replacement medial gastrocnemiu; EMG myopathic" "" "" "" "IHC normal sarcolemma immunostaining" "" "" "" "" "" "asymptomatic, hyperCKemia" "" "0000351724" "03021" "00466360" "04653" "Familial, autosomal recessive" "" "Highly elevated creatine kinase\r\nAbdominal pain" "" "" "" "" "" "" "" "" "LGMDR12" "LGMD" "" "0000351932" "05126" "00466569" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LGMDR12" "limb-girdle muscular dystrophy" "" "0000351933" "05126" "00466570" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LGMDR12" "limb-girdle muscular dystrophy" "" "0000352194" "05296" "00466831" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" ## Screenings ## Do not remove or alter this header ## ## Count = 595 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065386" "00065234" "1" "00006" "00006" "2016-05-23 21:57:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000073927" "00073766" "1" "01606" "01606" "2016-06-24 15:17:20" "" "" "SEQ" "DNA" "" "" "0000074506" "00074345" "1" "00006" "00006" "2016-05-23 21:57:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000074507" "00074346" "1" "00006" "00006" "2016-05-23 21:57:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000074508" "00074347" "1" "00006" "00006" "2016-05-23 21:57:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000074509" "00074348" "1" "00006" "00006" "2016-05-23 21:57:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000074510" "00074349" "1" "00006" "00006" "2016-05-23 21:57:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000074511" "00074350" "1" "00006" "00006" "2016-05-23 21:57:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000078918" "00078730" "1" "00006" "00006" "2010-02-14 22:37:07" "00006" "2012-11-02 20:40:23" "SSCA;SEQ" "DNA" "" "" "0000078919" "00078731" "1" "00006" "00006" "2010-02-14 22:37:07" "00006" "2012-11-02 20:40:23" "SSCA;SEQ" "DNA" "" "" "0000078920" "00078732" "1" "00006" "00006" "2010-02-14 22:37:07" "00006" "2012-11-02 20:40:23" "SSCA;SEQ" "DNA" "" "" "0000078921" "00078733" "1" "00006" "00006" "2010-02-14 22:37:07" "00006" "2012-11-02 20:40:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000078922" "00078734" "1" "00006" "00006" "2010-02-14 22:37:07" "00006" "2012-11-02 20:40:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000078923" "00078735" "1" "00006" "00006" "2010-02-14 22:37:07" "00006" "2012-11-02 20:40:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000078924" "00078736" "1" "00006" "00006" "2010-02-14 22:37:07" "00006" "2012-11-02 20:40:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000078925" "00078737" "1" "00006" "00006" "2010-02-14 22:37:07" "00006" "2012-11-02 20:40:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000078926" "00078738" "1" "00006" "00006" "2010-02-14 22:37:07" "00006" "2012-11-02 20:40:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000078927" "00078739" "1" "00006" "00006" "2010-02-14 22:37:07" "00006" "2012-11-02 20:40:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000078928" "00078740" "1" "00006" "00006" "2010-02-14 22:37:07" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078929" "00078741" "1" "00006" "00006" "2010-02-14 22:37:07" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078930" "00078742" "1" "00006" "00006" "2010-02-14 22:37:07" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078931" "00078743" "1" "00006" "00006" "2010-02-14 22:37:07" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078932" "00078744" "1" "00006" "00006" "2010-02-14 22:37:07" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078933" "00078745" "1" "00006" "00006" "2010-02-14 22:37:07" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078934" "00078746" "1" "00006" "00006" "2010-02-14 22:37:07" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078935" "00078747" "1" "00006" "00006" "2010-02-14 22:37:07" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078936" "00078748" "1" "00464" "00464" "2010-10-15 21:52:19" "00006" "2012-11-02 20:40:23" "PCR;SEQ" "DNA" "" "" "0000078937" "00078749" "1" "00006" "00006" "2011-10-30 10:44:33" "00006" "2012-11-02 20:40:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000078938" "00078750" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078939" "00078751" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078940" "00078752" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078941" "00078753" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078942" "00078754" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078943" "00078755" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078944" "00078756" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078945" "00078757" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078946" "00078758" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078947" "00078759" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078948" "00078760" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078949" "00078761" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078950" "00078762" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078951" "00078763" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078952" "00078764" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078953" "00078765" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078954" "00078766" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078955" "00078767" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078956" "00078768" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078957" "00078769" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078958" "00078770" "1" "00006" "00006" "2011-03-18 19:43:54" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078959" "00078771" "1" "00006" "00006" "2011-03-18 19:43:54" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078960" "00078772" "1" "00006" "00006" "2011-03-18 19:43:54" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078961" "00078773" "1" "00006" "00006" "2011-03-18 19:43:54" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078962" "00078774" "1" "00006" "00006" "2011-03-18 19:43:54" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078963" "00078775" "1" "00006" "00006" "2011-03-18 19:43:54" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078964" "00078776" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078965" "00078777" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078966" "00078778" "1" "00006" "00006" "2011-03-18 19:43:55" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078967" "00078779" "1" "00464" "00464" "2011-04-18 22:47:23" "00006" "2012-11-02 20:40:23" "PCR;SEQ" "DNA" "" "" "0000078968" "00078780" "1" "00464" "00464" "2011-05-03 16:05:11" "00006" "2012-11-02 20:40:23" "PCR;SEQ" "DNA" "" "" "0000078969" "00078781" "1" "00464" "00464" "2011-09-02 18:42:27" "00006" "2012-11-02 20:40:23" "PCR;SEQ" "DNA" "" "" "0000078970" "00078782" "1" "00464" "00464" "2011-09-02 20:44:22" "00006" "2012-11-02 20:40:23" "PCR;SEQ" "DNA" "" "" "0000078971" "00078783" "1" "00464" "00464" "2011-09-19 18:01:41" "00006" "2012-11-02 20:40:23" "PCR;SEQ" "DNA" "" "" "0000078972" "00078784" "1" "00464" "00464" "2011-09-22 17:44:13" "00006" "2012-11-02 20:40:23" "PCR;SEQ" "DNA" "" "" "0000078973" "00078785" "1" "00464" "00464" "2011-09-22 17:50:55" "00006" "2012-11-02 20:40:23" "PCR;SEQ" "DNA" "" "" "0000078974" "00078786" "1" "00006" "00006" "2011-10-30 10:44:33" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078975" "00078787" "1" "00006" "00006" "2011-10-30 10:44:33" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078976" "00078788" "1" "00006" "00006" "2011-10-30 10:44:33" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078977" "00078789" "1" "00006" "00006" "2011-10-30 10:44:33" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078978" "00078790" "1" "00006" "00006" "2011-10-30 10:44:33" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000078979" "00078791" "1" "00006" "00006" "2011-10-30 10:44:33" "00006" "2012-11-02 20:40:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000078980" "00078792" "1" "00464" "00464" "2012-02-16 20:34:09" "00006" "2012-11-02 20:40:23" "PCR;SEQ" "DNA" "" "" "0000078981" "00078793" "1" "00464" "00464" "2012-02-29 16:20:55" "00006" "2012-03-02 19:58:11" "PCR;SEQ" "DNA" "" "" "0000078982" "00078794" "1" "00464" "00464" "2012-05-23 20:23:01" "00006" "2012-05-24 22:13:02" "PCR;SEQ" "DNA" "" "" "0000078983" "00078795" "1" "00464" "00464" "2012-06-04 16:32:15" "00006" "2012-11-02 20:40:23" "PCR;SEQ" "DNA" "" "" "0000078984" "00078796" "1" "00464" "00464" "2012-09-14 20:59:10" "00006" "2012-09-20 07:31:27" "PCR;SEQ" "DNA" "" "" "0000078985" "00078797" "1" "00464" "00464" "2012-09-18 17:34:44" "00006" "2012-10-26 15:12:58" "PCR;SEQ" "DNA" "" "" "0000078986" "00078798" "1" "00464" "00464" "2012-10-16 22:52:51" "00006" "2012-10-23 21:17:42" "PCR;SEQ" "DNA" "" "" "0000078987" "00078799" "1" "00464" "00464" "2012-10-19 16:17:02" "00006" "2012-10-23 21:19:16" "PCR;SEQ" "DNA" "" "" "0000078988" "00078800" "1" "00464" "00464" "2012-10-19 16:52:31" "00006" "2012-10-26 15:12:58" "PCR;SEQ" "DNA" "" "" "0000078989" "00078801" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000078990" "00078802" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000078991" "00078803" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000078992" "00078804" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000078993" "00078805" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000078994" "00078806" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000078995" "00078807" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000078996" "00078808" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000078997" "00078809" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000078998" "00078810" "1" "00006" "00006" "2012-11-16 15:05:13" "" "" "SEQ" "DNA" "" "" "0000078999" "00078811" "1" "00006" "00006" "2012-11-16 15:05:13" "" "" "SEQ" "DNA" "" "" "0000079000" "00078812" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000079001" "00078813" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000079002" "00078814" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000079003" "00078815" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000079004" "00078816" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000079005" "00078817" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000079006" "00078818" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000079007" "00078819" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000079008" "00078820" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000079009" "00078821" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000079010" "00078822" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000079011" "00078823" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000079012" "00078824" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000079013" "00078825" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000079014" "00078826" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000079015" "00078827" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000079016" "00078828" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000079017" "00078829" "1" "00006" "00006" "2012-11-16 15:05:12" "00006" "2012-11-20 19:37:42" "SEQ" "DNA" "" "" "0000079018" "00078830" "1" "00006" "00006" "2012-11-16 15:05:12" "" "" "SEQ" "DNA" "" "" "0000079019" "00078831" "1" "00006" "00006" "2012-11-16 15:05:13" "" "" "SEQ" "DNA" "" "" "0000079020" "00078832" "1" "00006" "00006" "2012-11-16 15:05:13" "" "" "SEQ" "DNA" "" "" "0000079021" "00078833" "1" "00006" "00006" "2012-11-16 15:05:13" "" "" "SEQ" "DNA" "" "" "0000079022" "00078834" "1" "00006" "00006" "2012-11-16 15:05:13" "" "" "SEQ" "DNA" "" "" "0000079023" "00078835" "1" "00006" "00006" "2012-11-16 15:05:13" "" "" "SEQ" "DNA" "" "" "0000079024" "00078836" "1" "00006" "00006" 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"" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223660" "00222589" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223665" "00222594" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223677" "00222606" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223691" "00222620" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223698" "00222627" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223699" "00222628" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223742" "00222671" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223745" "00222674" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223763" "00222692" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223782" "00222711" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223796" "00222725" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000229297" "00228208" "1" "00399" "00006" "2019-03-20 15:12:19" "" "" "SEQ" "DNA" "" "" "0000229298" "00228209" "1" "00399" "00006" "2019-03-20 15:12:19" "" "" "SEQ" "DNA" "" "" "0000229299" "00228210" "1" "00399" "00006" "2019-03-20 15:12:19" "" "" "SEQ" "DNA" "" "" "0000229300" "00228211" "1" "00399" "00006" "2019-03-20 15:12:19" "" "" "SEQ" "DNA" "" "" "0000229301" "00228212" "1" "00399" "00006" "2019-03-20 15:12:19" "" "" "SEQ" "DNA" "" "" "0000229302" "00228213" "1" "00399" "00006" "2019-03-20 15:12:19" "" "" "SEQ" "DNA" "" "" "0000229303" "00228214" "1" "00399" "00006" "2019-03-20 15:12:19" "" "" "SEQ" "DNA" "" "" "0000229304" "00228215" "1" "00399" "00006" "2019-03-20 15:12:19" "" "" "SEQ" "DNA" "" "" "0000266675" "00265553" "1" "00006" "00006" "2019-08-23 12:48:12" "" "" "SEQ;SEQ-NG" "DNA" "" "42 gene panel" "0000266771" "00265648" "1" "00006" "00006" "2019-09-30 11:53:15" "" "" "SEQ;SEQ-NG" "DNA" "" "759-gene panel neurological disorders" "0000267298" "00266177" "1" "01164" "01164" "2019-10-15 11:11:40" "" "" "SEQ-NG-S" "DNA" "" "" "0000275464" "00274308" "1" "00006" "00006" "2019-12-28 16:38:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275465" "00274309" "1" "00006" "00006" "2019-12-28 16:38:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275466" "00274310" "1" "00006" "00006" "2019-12-28 16:38:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290302" "00289132" "1" "00006" "00006" "2020-03-01 11:31:09" "" "" "SEQ;SEQ-NG" "DNA" "" "MyoCap 180 myopathy gene panel" "0000291512" "00290344" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291513" "00290345" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291514" "00290346" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291515" "00290347" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291516" "00290348" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291517" "00290349" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291518" "00290350" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291519" "00290351" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296553" "00295385" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302635" "00301514" "1" "03678" "03678" "2020-05-18 13:02:03" "" "" "SEQ-NG" "DNA" "" "" "0000304017" "00302891" "1" "01807" "01807" "2020-06-03 15:09:01" "" "" "SEQ" "DNA" "" "" "0000305429" "00304300" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306998" "00305868" "1" "00006" "00006" "2020-07-02 12:45:49" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate 420-gene panel" "0000312976" "00311804" "1" "00006" "00006" "2020-09-29 08:58:13" "" "" "SEQ" "DNA" "" "" "0000312977" "00311805" "1" "00006" "00006" "2020-09-29 08:58:13" "" "" "SEQ" "DNA" "" "" "0000312978" "00311806" "1" "00006" "00006" "2020-09-29 08:58:13" "" "" "SEQ" "DNA" "" "" "0000312979" "00311807" "1" "00006" "00006" "2020-09-29 08:58:13" "" "" "SEQ" "DNA" "" "" "0000312980" "00311808" "1" "00006" "00006" "2020-09-29 08:58:13" "" "" "SEQ" "DNA" "" "" "0000312981" "00311809" "1" "00006" "00006" "2020-09-29 09:53:51" "" "" "PCR" "DNA" "" "" "0000313015" "00311843" "1" "00006" "00006" "2020-09-29 11:54:02" "" "" "SEQ" "DNA" "" "" "0000313016" "00311844" "1" "00006" "00006" "2020-09-29 11:54:02" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000313017" "00311845" "1" "00006" "00006" "2020-09-29 11:54:02" "" "" "SEQ" "DNA" "" "" "0000313018" "00311846" "1" "00006" "00006" "2020-09-29 11:54:02" "" "" "SEQ" "DNA" "" "" "0000313019" "00311847" "1" "00006" "00006" "2020-09-29 11:54:02" "" "" "SEQ" "DNA" "" "" "0000313020" "00311848" "1" "00006" "00006" "2020-09-29 11:54:02" "" "" "SEQ" "DNA" "" "" "0000313021" "00311849" "1" "00006" "00006" "2020-09-29 11:54:02" "" "" "SEQ" "DNA" "" "" "0000314833" "00313661" "1" "00006" "00006" "2020-10-03 17:43:55" "" "" "SEQ" "DNA" "" "" "0000314834" "00313662" "1" "00006" "00006" "2020-10-03 17:43:55" "" "" "SEQ" "DNA" "" "" "0000314835" "00313663" "1" "00006" "00006" "2020-10-03 17:43:55" "" "" "SEQ" "DNA" "" "" "0000314934" "00313762" "1" "00006" "00006" "2020-10-04 10:11:01" "" "" "SEQ" "DNA" "" "" "0000314935" 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"00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000314994" "00313822" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000314995" "00313823" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000314996" "00313824" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000314997" "00313825" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000314998" "00313826" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000314999" "00313827" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315000" "00313828" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315001" "00313829" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315002" "00313830" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315003" "00313831" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315004" "00313832" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315005" "00313833" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315006" "00313834" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315007" "00313835" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315008" "00313836" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315009" "00313837" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315010" "00313838" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315011" "00313839" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315012" "00313840" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315013" "00313841" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315014" "00313842" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315015" "00313843" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315016" "00313844" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315017" "00313845" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315018" "00313846" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315019" "00313847" "1" "00399" "00006" "2020-10-06 10:37:52" "" "" "SEQ" "DNA" "" "" "0000315200" "00314027" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315201" "00314028" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315202" "00314029" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315203" "00314030" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315204" "00314031" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315205" "00314032" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315206" "00314033" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315207" "00314034" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315208" "00314035" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315209" "00314036" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315210" "00314037" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315211" "00314038" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315212" "00314039" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315213" "00314040" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315214" "00314041" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315215" "00314042" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315216" "00314043" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315217" "00314044" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315218" "00314045" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315219" "00314046" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315220" "00314047" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315221" "00314048" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315222" "00314049" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315223" "00314050" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315224" "00314051" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315225" "00314052" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315226" "00314053" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315227" "00314054" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315228" "00314055" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315229" "00314056" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315230" "00314057" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315231" "00314058" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315232" "00314059" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363141" "00361913" "1" "04047" "04047" "2021-04-12 11:31:07" "" "" "SEQ-NG" "DNA" "" "" "0000375385" "00374191" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000389856" "00388614" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000389906" "00388664" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000389907" "00388665" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000389908" "00388666" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000393217" "00391975" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, DYSF, ANO5, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1" "0000393273" "00392031" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, SYNE2, ANO5" "0000400208" "00398963" "1" "02291" "02291" "2013-08-08 12:22:02" "00006" "2013-08-13 11:59:16" "SEQ" "DNA" "" "" "0000400209" "00398964" "1" "00006" "00006" "2022-01-14 17:29:02" "" "" "SEQ" "DNA" "" "" "0000400210" "00398965" "1" "00006" "00006" "2022-01-14 17:32:53" "" "" "SEQ" "DNA" "" "" "0000400314" "00399069" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000400339" "00399094" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000400354" "00399109" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000400356" "00399111" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000403651" "00402410" "1" "01929" "01929" "2022-02-06 03:17:40" "" "" "SEQ-NG-IT" "DNA" "blood" "15 genes NGS panel" "0000411804" "00410539" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000413876" "00412607" "1" "00053" "00008" "2022-07-01 19:01:01" "" "" "SEQ-NG" "DNA" "Blood" "" "0000414257" "00412986" "1" "04133" "04133" "2022-07-07 15:09:20" "" "" "SEQ-NG" "DNA" "" "" "0000414361" "00413091" "1" "00006" "00006" "2022-07-11 16:33:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000416827" "00415546" "1" "00006" "00006" "2022-08-15 10:26:09" "" "" "SEQ;SEQ-ON;SEQ-NG" "DNA" "" "" "0000420778" "00419474" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000420898" "00419594" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420899" "00419595" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000420900" "00419596" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000420901" "00419597" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000431860" "00430451" "1" "00006" "00006" "2023-01-20 11:39:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000431887" "00430478" "1" "00006" "00006" "2023-01-20 11:39:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000431892" "00430483" "1" "00006" "00006" "2023-01-20 11:39:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440011" "00438529" "1" "00006" "00006" "2023-10-21 14:47:26" "" "" "SEQ;SEQ-NG" "DNA" "" "47-gene panel" "0000440038" "00438556" "1" "00006" "00006" "2023-10-21 14:47:26" "" "" "SEQ;SEQ-NG" "DNA" "" "47-gene panel" "0000440043" "00438561" "1" "00006" "00006" "2023-10-21 14:47:26" "" "" "SEQ;SEQ-NG" "DNA" "" "47-gene panel" "0000444115" "00442631" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444116" "00442632" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444117" "00442633" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444188" "00442704" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444189" "00442705" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000456758" "00455145" "1" "00006" "00006" "2024-10-01 20:00:32" "" "" "SEQ" "DNA" "" "" "0000456759" "00455146" "1" "00006" "00006" "2024-10-01 20:00:32" "" "" "SEQ" "DNA" "" "" "0000456760" "00455147" "1" "00006" "00006" "2024-10-01 20:00:32" "" "" "SEQ" "DNA" "" "" "0000461893" "00460262" "1" "00006" "00006" "2025-01-22 12:23:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461906" "00460275" "1" "00006" "00006" "2025-01-22 12:23:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461913" "00460282" "1" "00006" "00006" "2025-01-22 12:23:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461919" "00460288" "1" "00006" "00006" "2025-01-22 12:23:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000468021" "00466360" "1" "04653" "04653" "2025-08-22 17:46:16" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000468232" "00466569" "1" "00006" "00006" "2025-09-11 16:30:53" "" "" "SEQ-NG" "DNA" "" "WES" "0000468233" "00466570" "1" "00006" "00006" "2025-09-11 16:30:53" "" "" "SEQ-NG" "DNA" "" "WES" "0000468495" "00466831" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 291 "{{screeningid}}" "{{geneid}}" "0000065386" "ANO5" "0000065386" "BAG3" "0000073927" "ANO5" "0000074506" "ANO5" "0000074507" "ANO5" "0000074507" "DYSF" "0000074508" "ANO5" "0000074508" "DYSF" "0000074509" "ANO5" "0000074509" "CAV3" "0000074510" "ANO5" "0000074511" "ANO5" "0000078918" "ANO5" "0000078919" "ANO5" "0000078920" "ANO5" "0000078921" "ANO5" "0000078922" "ANO5" "0000078923" "ANO5" "0000078924" "ANO5" "0000078925" "ANO5" "0000078926" "ANO5" "0000078927" "ANO5" "0000078928" "ANO5" "0000078929" "ANO5" "0000078930" "ANO5" "0000078931" "ANO5" "0000078932" "ANO5" "0000078933" "ANO5" "0000078934" "ANO5" "0000078935" "ANO5" "0000078936" "ANO5" "0000078937" "ANO5" "0000078938" "ANO5" "0000078939" "ANO5" "0000078940" "ANO5" "0000078941" "ANO5" "0000078942" "ANO5" "0000078943" "ANO5" "0000078944" "ANO5" "0000078945" "ANO5" "0000078946" "ANO5" "0000078947" "ANO5" "0000078948" "ANO5" "0000078949" "ANO5" "0000078950" "ANO5" "0000078951" "ANO5" "0000078952" "ANO5" "0000078953" "ANO5" "0000078954" "ANO5" "0000078955" "ANO5" "0000078956" "ANO5" "0000078957" "ANO5" "0000078958" "ANO5" "0000078959" "ANO5" "0000078960" "ANO5" "0000078961" "ANO5" "0000078962" "ANO5" "0000078963" "ANO5" "0000078964" "ANO5" "0000078965" "ANO5" "0000078966" "ANO5" "0000078967" "ANO5" "0000078968" "ANO5" "0000078969" "ANO5" "0000078970" "ANO5" "0000078971" "ANO5" "0000078972" "ANO5" "0000078973" "ANO5" "0000078974" "ANO5" "0000078975" "ANO5" "0000078976" "ANO5" "0000078977" "ANO5" "0000078978" "ANO5" "0000078979" "ANO5" "0000078980" "ANO5" "0000078981" "ANO5" "0000078982" "ANO5" "0000078983" "ANO5" "0000078984" "ANO5" "0000078985" "ANO5" "0000078986" "ANO5" "0000078987" "ANO5" "0000078988" "ANO5" "0000078989" "ANO5" "0000078990" "ANO5" "0000078991" "ANO5" "0000078992" "ANO5" "0000078993" "ANO5" "0000078994" "ANO5" "0000078995" "ANO5" "0000078996" "ANO5" "0000078997" "ANO5" "0000078998" "ANO5" "0000078999" "ANO5" "0000079000" "ANO5" "0000079001" "ANO5" "0000079002" "ANO5" "0000079003" "ANO5" "0000079004" "ANO5" "0000079005" "ANO5" "0000079006" "ANO5" "0000079007" "ANO5" "0000079008" "ANO5" "0000079009" "ANO5" "0000079010" "ANO5" "0000079011" "ANO5" "0000079012" "ANO5" "0000079013" "ANO5" "0000079014" "ANO5" "0000079015" "ANO5" "0000079016" "ANO5" "0000079017" "ANO5" "0000079018" "ANO5" "0000079019" "ANO5" "0000079020" "ANO5" "0000079021" "ANO5" "0000079022" "ANO5" "0000079023" "ANO5" "0000079024" "ANO5" "0000079025" "ANO5" "0000079026" "ANO5" "0000079027" "ANO5" "0000079028" "ANO5" "0000079029" "ANO5" "0000079030" "ANO5" "0000079031" "ANO5" "0000079032" "ANO5" "0000079033" "ANO5" "0000079034" "ANO5" "0000079035" "ANO5" "0000079036" "ANO5" "0000079037" "ANO5" "0000079038" "ANO5" "0000079039" "ANO5" "0000079040" "ANO5" "0000079041" "ANO5" "0000079042" "ANO5" "0000079043" "ANO5" "0000079044" "ANO5" "0000079045" "ANO5" "0000079046" "ANO5" "0000079047" "ANO5" "0000079048" "ANO5" "0000079049" "ANO5" "0000079050" "ANO5" "0000079051" "ANO5" "0000079052" "ANO5" "0000079053" "ANO5" "0000079054" "ANO5" "0000079055" "ANO5" "0000079056" "ANO5" "0000079057" "ANO5" "0000079058" "ANO5" "0000079059" "ANO5" "0000079060" "ANO5" "0000079062" "ANO5" "0000079063" "ANO5" "0000079064" "ANO5" "0000079065" "ANO5" "0000079066" "ANO5" "0000156615" "CAPN3" "0000229297" "ANO5" "0000229298" "ANO5" "0000229299" "ANO5" "0000229300" "ANO5" "0000229301" "ANO5" "0000229302" "ANO5" "0000229303" "ANO5" "0000229304" "ANO5" "0000266675" "ANO5" "0000266771" "ANO5" "0000275464" "ANO5" "0000275465" "ANO5" "0000275466" "ANO5" "0000290302" "ANO5" "0000302635" "ANO5" "0000306998" "ANO5" "0000312981" "ANO5" "0000313015" "ANO5" "0000313016" "ANO5" "0000313017" "ANO5" "0000313018" "ANO5" "0000313019" "ANO5" "0000313020" "ANO5" "0000313021" "ANO5" "0000314833" "ANO5" "0000314834" "ANO5" "0000314835" "ANO5" "0000314934" "ANO5" "0000314935" "ANO5" "0000314936" "ANO5" "0000314937" "ANO5" "0000314938" "ANO5" "0000314964" "ANO5" "0000314965" "ANO5" "0000314966" "ANO5" "0000314967" "ANO5" "0000314968" "ANO5" "0000314969" "ANO5" "0000314970" "ANO5" "0000314971" "ANO5" "0000314972" "ANO5" "0000314973" "ANO5" "0000314974" "ANO5" "0000314975" "ANO5" "0000314976" "ANO5" "0000314977" "ANO5" "0000314978" "ANO5" "0000314979" "ANO5" "0000314980" "ANO5" "0000314981" "ANO5" "0000314982" "ANO5" "0000314983" "ANO5" "0000314984" "ANO5" "0000314985" "ANO5" "0000314986" "ANO5" "0000314987" "ANO5" "0000314988" "ANO5" "0000314989" "ANO5" "0000314990" "ANO5" "0000314991" "ANO5" "0000314992" "ANO5" "0000314993" "ANO5" "0000314994" "ANO5" "0000314995" "ANO5" "0000314996" "ANO5" "0000314997" "ANO5" "0000314998" "ANO5" "0000314999" "ANO5" "0000315000" "ANO5" "0000315001" "ANO5" "0000315002" "ANO5" "0000315003" "ANO5" "0000315004" "ANO5" "0000315005" "ANO5" "0000315006" "ANO5" "0000315007" "ANO5" "0000315008" "ANO5" "0000315009" "ANO5" "0000315010" "ANO5" "0000315011" "ANO5" "0000315012" "ANO5" "0000315013" "ANO5" "0000315014" "ANO5" "0000315015" "ANO5" "0000315016" "ANO5" "0000315017" "ANO5" "0000315018" "ANO5" "0000315019" "ANO5" "0000315200" "ANO5" "0000315201" "ANO5" "0000315202" "ANO5" "0000315203" "ANO5" "0000315204" "ANO5" "0000315205" "ANO5" "0000315206" "ANO5" "0000315207" "ANO5" "0000315208" "ANO5" "0000315209" "ANO5" "0000315210" "ANO5" "0000315211" "ANO5" "0000315212" "ANO5" "0000315213" "ANO5" "0000315214" "ANO5" "0000315215" "ANO5" "0000315216" "ANO5" "0000315217" "ANO5" "0000315218" "ANO5" "0000315219" "ANO5" "0000315220" "ANO5" "0000315221" "ANO5" "0000315222" "ANO5" "0000315223" "ANO5" "0000315224" "ANO5" "0000315225" "ANO5" "0000315226" "ANO5" "0000315227" "ANO5" "0000315228" "ANO5" "0000315229" "ANO5" "0000315230" "ANO5" "0000315231" "ANO5" "0000315232" "ANO5" "0000375385" "ANO5" "0000400208" "ANO5" "0000400209" "ANO5" "0000400210" "ANO5" "0000413876" "ANO5" "0000414257" "ANO5" "0000456758" "ANO5" "0000456759" "ANO5" "0000456760" "ANO5" ## 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 = 1122 "{{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}}" "0000097057" "1" "90" "11" "22242704" "22242704" "subst" "0.000151007" "00006" "ANO5_000056" "g.22242704A>G" "1/82 cases LGMD" "Fichna ESHG2016 P10.20" "" "D81G" "" "Germline" "yes" "" "0" "" "" "g.22221158A>G" "" "pathogenic" "" "0000097058" "2" "90" "11" "22276938" "22276938" "" "0" "00006" "ANO5_000076" "g.(22276938G>Aˆ22276939G>A)" "1/82 cases LGMD" "Fichna ESHG2016 P10.20" "" "W401X" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118865" "10" "90" "11" "22272340" "22272340" "subst" "0" "01606" "ANO5_000077" "g.22272340G>A" "" "{PMID:Duong 2016:27068316}, {DOI:Duong 2016:10.1016/j.oooo.2016.01.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.22250794G>A" "" "pathogenic" "" "0000118866" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "1/82 cases LGMD" "Fichna ESHG2016 P10.20" "" "R758Cys" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000118867" "2" "90" "11" "22242704" "22242704" "subst" "0.000151007" "00006" "ANO5_000056" "g.22242704A>G" "1/82 cases LGMD" "Fichna ESHG2016 P10.20" "" "D81G" "" "Germline" "" "" "0" "" "" "g.22221158A>G" "" "pathogenic" "" "0000118868" "1" "50" "11" "22281191" "22281191" "subst" "4.06471E-6" "00006" "ANO5_000078" "g.22281191A>G" "1/82 cases LGMD" "Fichna ESHG2016 P10.20" "" "I512V" "" "Germline" "" "" "0" "" "" "g.22259645A>G" "" "VUS" "" "0000118869" "1" "50" "11" "22294441" "22294441" "subst" "0.000873238" "00006" "ANO5_000060" "g.22294441C>G" "1/82 cases LGMD" "Fichna ESHG2016 P10.20" "" "T714S" "" "Germline" "" "" "0" "" "" "g.22272895C>G" "" "VUS" "" "0000118870" "1" "50" "11" "22301267" "22301267" "subst" "0" "00006" "ANO5_000079" "g.22301267A>Y" "1/82 cases LGMD" "Fichna ESHG2016 P10.20" "" "M900L" "" "Germline" "" "" "0" "" "" "g.22279721A>Y" "" "VUS" "" "0000118871" "1" "50" "11" "22296266" "22296266" "subst" "0.00871481" "00006" "ANO5_000053" "g.22296266C>T" "1/82 cases LGMD" "Fichna ESHG2016 P10.20" "" "S796L" "" "Germline" "" "" "0" "" "" "g.22274720C>T" "" "VUS" "" "0000118872" "1" "50" "11" "22283708" "22283708" "subst" "8.5361E-5" "00006" "ANO5_000080" "g.22283708G>T" "1/82 cases LGMD" "Fichna ESHG2016 P10.20" "" "S555I" "" "Germline" "" "" "0" "" "" "g.22262162G>T" "" "VUS" "" "0000126487" "1" "90" "11" "22272339" "22272339" "subst" "0" "00006" "ANO5_000001" "g.22272339T>C" "" "{PMID:Tsutsumi 2004:15124103}, {OMIM608662:0001}" "" "" "identified through linkage, not in 1136 control chromosomes (JP, AA)" "Germline" "" "" "0" "" "" "g.22250793T>C" "" "pathogenic" "" "0000126488" "1" "90" "11" "22272339" "22272339" "subst" "0" "00006" "ANO5_000002" "g.22272339T>G" "" "{PMID:Tsutsumi 2004:15124103}, {OMIM608662:0002}" "" "" "not in 1136 control chromosomes (JP, AA)" "Germline" "" "" "0" "" "" "g.22250793T>G" "" "pathogenic" "" "0000126489" "11" "90" "11" "22272339" "22272339" "subst" "0" "00006" "ANO5_000002" "g.22272339T>G" "" "{PMID:Tsutsumi 2004:15124103}, {OMIM608662:0002}" "" "" "not in 1136 control chromosomes (JP, AA)" "Germline" "" "" "0" "" "" "g.22250793T>G" "" "pathogenic" "" "0000126490" "11" "90" "11" "22277031" "22277031" "subst" "2.85276E-5" "00006" "ANO5_000003" "g.22277031C>G" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0003}" "" "" "identified through linkage; shared 3.6 Mb haplotype; not in 372 control chromosomes" "Germline" "" "" "0" "" "" "g.22255485C>G" "" "pathogenic" "" "0000126491" "11" "90" "11" "22277031" "22277031" "subst" "2.85276E-5" "00006" "ANO5_000003" "g.22277031C>G" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0003}" "" "" "identified through linkage; shared 3.6 Mb haplotype; not in 372 control chromosomes" "Germline" "" "" "0" "" "" "g.22255485C>G" "" "pathogenic" "" "0000126492" "11" "90" "11" "22277031" "22277031" "subst" "2.85276E-5" "00006" "ANO5_000003" "g.22277031C>G" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0003}" "" "" "identified through linkage; shared 3.6 Mb haplotype; not in 372 control chromosomes" "Germline" "" "" "0" "" "" "g.22255485C>G" "" "pathogenic" "" "0000126493" "11" "90" "11" "22277031" "22277031" "subst" "2.85276E-5" "00006" "ANO5_000003" "g.22277031C>G" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0003}" "" "" "identified through linkage; shared 3.6 Mb haplotype; not in 372 control chromosomes" "Germline" "" "" "0" "" "" "g.22255485C>G" "" "pathogenic" "" "0000126494" "11" "90" "11" "22277031" "22277031" "subst" "2.85276E-5" "00006" "ANO5_000003" "g.22277031C>G" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0003}" "" "" "identified through linkage; shared 3.6 Mb haplotype; not in 372 control chromosomes" "Germline" "" "" "0" "" "" "g.22255485C>G" "" "pathogenic" "" "0000126495" "11" "90" "11" "22277031" "22277031" "subst" "2.85276E-5" "00006" "ANO5_000003" "g.22277031C>G" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0003}" "" "" "shared 3.6 Mb haplotype; not in 372 control chromosomes" "Germline" "" "" "0" "" "" "g.22255485C>G" "" "pathogenic" "" "0000126496" "11" "90" "11" "22277031" "22277031" "subst" "2.85276E-5" "00006" "ANO5_000003" "g.22277031C>G" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0003}" "" "" "shared 3.6 Mb haplotype; not in 372 control chromosomes" "Germline" "" "" "0" "" "" "g.22255485C>G" "" "pathogenic" "" "0000126497" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0004}" "" "" "not in 362 control chromosomes" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126498" "11" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0006}" "" "" "not in 308 conrol chromosomes" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126499" "11" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0006}" "" "" "not in 308 conrol chromosomes" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126500" "11" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0004}" "" "" "not in 362 control chromosomes" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126501" "11" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0004}" "" "" "not in 362 control chromosomes" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126502" "11" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0004}" "" "" "not in 362 control chromosomes" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126503" "0" "50" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "1/100" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "VUS" "" "0000126504" "0" "50" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "2/210" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "VUS" "" "0000126505" "1" "90" "11" "22242653" "22242653" "dup" "0" "00464" "ANO5_000004" "g.22242653dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126506" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "Bolduc ASHG2011 A114" "" "" "nonsense mediated mRNA decay" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126507" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126508" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126509" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126510" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126511" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126512" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126513" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126514" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126515" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126516" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126517" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126518" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126519" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126520" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126521" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126522" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126523" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126524" "11" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Hicks 2011:21186264}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126525" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126526" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126527" "10" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126528" "10" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126529" "10" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126530" "10" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126531" "10" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126532" "10" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126533" "10" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126534" "10" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126535" "10" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126536" "10" "90" "11" "22242653" "22242653" "dup" "0" "00464" "ANO5_000004" "g.22242653dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126537" "1" "90" "11" "22242653" "22242653" "dup" "0" "00464" "ANO5_000004" "g.22242653dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126538" "10" "90" "11" "22242653" "22242653" "dup" "0" "00464" "ANO5_000004" "g.22242653dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126539" "11" "90" "11" "22291977" "22291977" "subst" "0" "00464" "ANO5_000029" "g.22291977A>G" "" "{PMID:Milone 2011:21820307}" "" "" "" "Germline" "" "" "0" "" "" "g.22270431A>G" "" "pathogenic" "" "0000126540" "1" "90" "11" "22242653" "22242653" "dup" "0" "00464" "ANO5_000004" "g.22242653dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126541" "10" "90" "11" "22242653" "22242653" "dup" "0" "00464" "ANO5_000004" "g.22242653dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126542" "1" "90" "11" "22242653" "22242653" "dup" "0" "00464" "ANO5_000004" "g.22242653dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126543" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Deschauer 2011:21739273}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126544" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Deschauer 2011:21739273}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126545" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Deschauer 2011:21739273}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126546" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Deschauer 2011:21739273}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126547" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Deschauer 2011:21739273}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126548" "1" "90" "11" "22277031" "22277031" "subst" "2.85276E-5" "00006" "ANO5_000003" "g.22277031C>G" "" "Bolduc ASHG2011 A114" "" "" "nonsense mediated mRNA decay" "Germline" "" "" "0" "" "" "g.22255485C>G" "" "pathogenic" "" "0000126549" "1" "90" "11" "22242653" "22242653" "dup" "0" "00464" "ANO5_000004" "g.22242653dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126550" "0" "90" "11" "22242653" "22242653" "dup" "0" "00464" "ANO5_000004" "g.22242653dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126551" "10" "50" "11" "22276939" "22276939" "subst" "4.10951E-6" "00464" "ANO5_000038" "g.22276939G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.22255393G>T" "" "VUS" "" "0000126552" "10" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00464" "ANO5_000039" "g.22239825C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000126553" "1" "90" "11" "22242653" "22242653" "dup" "0" "00464" "ANO5_000040" "g.22242653dup" "" "" "" "c.191dup" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126554" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00464" "ANO5_000005" "g.22257752G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000126555" "10" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00464" "ANO5_000039" "g.22239825C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000126556" "10" "70" "11" "22297723" "22297723" "subst" "0.000118116" "00464" "ANO5_000034" "g.22297723T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22276177T>A" "" "likely pathogenic" "" "0000126557" "10" "90" "11" "22242653" "22242653" "dup" "0" "00464" "ANO5_000004" "g.22242653dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126558" "1" "90" "11" "22291977" "22291977" "subst" "0" "00006" "ANO5_000029" "g.22291977A>G" "" "{PMID:Witting 2012:23055322}" "" "" "" "Germline" "" "" "0" "" "" "g.22270431A>G" "" "pathogenic" "" "0000126559" "1" "90" "11" "22291977" "22291977" "subst" "0" "00006" "ANO5_000029" "g.22291977A>G" "" "{PMID:Witting 2012:23055322}" "" "" "" "Germline" "" "" "0" "" "" "g.22270431A>G" "" "pathogenic" "" "0000126560" "1" "90" "11" "22291977" "22291977" "subst" "0" "00006" "ANO5_000029" "g.22291977A>G" "" "{PMID:Witting 2012:23055322}" "" "" "" "Germline" "" "" "0" "" "" "g.22270431A>G" "" "pathogenic" "" "0000126561" "1" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00006" "ANO5_000039" "g.22239825C>T" "" "{PMID:Witting 2012:23055322}" "" "" "" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000126562" "1" "90" "11" "22281195" "22281195" "subst" "0" "00006" "ANO5_000043" "g.22281195C>T" "" "{PMID:Marconi 2012:23047743}" "" "" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.22259649C>T" "" "pathogenic" "" "0000126563" "1" "90" "11" "22281195" "22281195" "subst" "0" "00006" "ANO5_000043" "g.22281195C>T" "" "{PMID:Marconi 2012:23047743}" "" "" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.22259649C>T" "" "pathogenic" "" "0000126564" "1" "90" "11" "22281195" "22281195" "subst" "0" "00006" "ANO5_000043" "g.22281195C>T" "" "{PMID:Marconi 2012:23047743}" "" "" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.22259649C>T" "" "pathogenic" "" "0000126565" "1" "90" "11" "22281195" "22281195" "subst" "0" "00006" "ANO5_000043" "g.22281195C>T" "" "{PMID:Marconi 2012:23047743}" "" "" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.22259649C>T" "" "pathogenic" "" "0000126566" "1" "90" "11" "22281195" "22281195" "subst" "0" "00006" "ANO5_000043" "g.22281195C>T" "" "{PMID:Marconi 2012:23047743}" "" "" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.22259649C>T" "" "pathogenic" "" "0000126567" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Bouqet 2012:22336395}, {PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126568" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Bouqet 2012:22336395}, {PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126569" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126570" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126571" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126572" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126573" "1" "90" "11" "22239808" "22239808" "subst" "0.00213491" "00006" "ANO5_000048" "g.22239808A>G" "" "{PMID:Wahbi 2012:23041008}" "" "N52K" "" "Germline" "" "" "0" "" "" "g.22218262A>G" "" "pathogenic" "" "0000126574" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000126575" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126576" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126577" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126578" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126579" "1" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00006" "ANO5_000033" "g.22284590G>A" "" "{PMID:Wahbi 2012:23041008}" "" "IVS17+1G>A" "" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic" "" "0000126580" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126581" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126582" "1" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00006" "ANO5_000039" "g.22239825C>T" "" "{PMID:Wahbi 2012:23041008}" "" "" "not in 408 control chromosomes" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000126583" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126584" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126585" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126586" "1" "90" "11" "22301176" "22301180" "dup" "0" "00006" "ANO5_000069" "g.22301176_22301180dup" "" "{PMID:Wahbi 2012:23041008}" "" "2607-2611dupA (M871SfsX2)" "descriptions DNA corrected after contacting authors" "Germline" "" "" "0" "" "" "g.22279630_22279634dup" "" "pathogenic" "" "0000126587" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126588" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126589" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126590" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126591" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000126592" "1" "90" "11" "22239808" "22239808" "subst" "0.00213491" "00006" "ANO5_000048" "g.22239808A>G" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22218262A>G" "" "pathogenic" "" "0000126593" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126594" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126595" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126596" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126597" "1" "90" "11" "22242704" "22242704" "subst" "0.000151007" "00006" "ANO5_000056" "g.22242704A>G" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22221158A>G" "" "pathogenic" "" "0000126598" "1" "90" "11" "22242704" "22242704" "subst" "0.000151007" "00006" "ANO5_000056" "g.22242704A>G" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22221158A>G" "" "pathogenic" "" "0000126599" "1" "90" "11" "22242704" "22242704" "subst" "0.000151007" "00006" "ANO5_000056" "g.22242704A>G" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22221158A>G" "" "pathogenic" "" "0000126600" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126601" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126602" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126603" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126604" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126605" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126606" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126607" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126608" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126609" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126610" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126611" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126612" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126613" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126614" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126615" "1" "90" "11" "22294441" "22294441" "subst" "0.000873238" "00006" "ANO5_000060" "g.22294441C>G" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22272895C>G" "" "pathogenic" "" "0000126616" "1" "90" "11" "22291854" "22291854" "subst" "4.06207E-6" "00006" "ANO5_000062" "g.22291854A>G" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22270308A>G" "" "pathogenic" "" "0000126617" "1" "90" "11" "22291924" "22291924" "subst" "8.12222E-6" "00006" "ANO5_000064" "g.22291924G>C" "" "{PMID:Schessl 2012:22499103}" "" "" "" "Germline" "" "" "0" "" "" "g.22270378G>C" "" "pathogenic" "" "0000126618" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Schessl 2012:22499103}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126619" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Schessl 2012:22499103}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126620" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Schessl 2012:22499103}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126621" "1" "90" "11" "22242682" "22242682" "subst" "2.85878E-5" "00006" "ANO5_000066" "g.22242682C>T" "" "{PMID:Magrib 2012:22742934}" "" "" "" "Germline" "" "" "0" "" "" "g.22221136C>T" "" "pathogenic" "" "0000126622" "1" "90" "11" "22281284" "22281284" "dup" "0" "00006" "ANO5_000061" "g.22281284dup" "" "{PMID:Magrib 2012:22742934}" "" "" "" "Germline" "" "" "0" "" "" "g.22259738dup" "" "pathogenic" "" "0000126623" "1" "90" "11" "22281284" "22281284" "dup" "0" "00006" "ANO5_000061" "g.22281284dup" "" "{PMID:Magrib 2012:22742934}" "" "" "" "Germline" "" "" "0" "" "" "g.22259738dup" "" "pathogenic" "" "0000126624" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Magrib 2012:22742934}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126625" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Magrib 2012:22742934}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126626" "1" "90" "11" "22248881" "22248881" "subst" "0" "00006" "ANO5_000067" "g.22248881A>T" "" "{PMID:Magrib 2012:22742934}" "" "" "" "Germline" "" "" "0" "" "" "g.22227335A>T" "" "pathogenic" "" "0000126627" "1" "70" "11" "22225349" "22225349" "subst" "1.25104E-5" "00464" "ANO5_000044" "g.22225349G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22203803G>A" "" "likely pathogenic" "" "0000126628" "1" "30" "11" "22242745" "22242745" "subst" "0" "00006" "ANO5_000070" "g.22242745G>A" "" "" "" "Glu95Lys" "" "Germline" "" "" "0" "" "" "g.22221199G>A" "" "likely benign" "" "0000126629" "1" "90" "11" "22239801" "22239801" "subst" "0" "00464" "ANO5_000052" "g.22239801C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22218255C>T" "" "pathogenic" "" "0000126631" "1" "90" "11" "22215051" "22215051" "del" "0" "00464" "ANO5_000072" "g.22215051del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22193505del" "" "pathogenic" "" "0000126632" "1" "70" "11" "22247600" "22247600" "subst" "0" "00464" "ANO5_000074" "g.22247600T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22226054T>C" "" "likely pathogenic" "" "0000126633" "3" "70" "11" "22239825" "22239825" "subst" "9.76173E-5" "01700" "ANO5_000039" "g.22239825C>T" "" "{PMID:Punetha 2016:27854218}" "" "" "" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic (recessive)" "" "0000126634" "3" "70" "11" "22247587" "22247587" "del" "0" "01700" "ANO5_000075" "g.22247587del" "" "{PMID:Punetha 2016:27854218}" "" "" "" "Unknown" "" "" "0" "" "" "g.22226041del" "" "pathogenic (recessive)" "" "0000126635" "0" "50" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "2/578" "{PMID:Bolduc 2010:20096397}, Penttila WMS2010 P1.26" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "VUS" "" "0000126636" "0" "50" "11" "22276939" "22276939" "subst" "4.10951E-6" "00464" "ANO5_000038" "g.22276939G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.22255393G>T" "" "VUS" "" "0000126637" "1" "90" "11" "22277031" "22277031" "subst" "2.85276E-5" "00006" "ANO5_000003" "g.22277031C>G" "" "Bolduc ASHG2011 A114" "" "" "nonsense mediated mRNA decay" "Germline" "" "" "0" "" "" "g.22255485C>G" "" "pathogenic" "" "0000126638" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126639" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126640" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126641" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126642" "2" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0005}" "" "" "not in 210 control chromosomes" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000126643" "2" "50" "11" "22247602" "22247602" "subst" "0" "00464" "ANO5_000028" "g.22247602A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22226056A>G" "" "VUS" "" "0000126644" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126645" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126646" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126647" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126648" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126649" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126650" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126651" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126652" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126653" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126654" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126655" "2" "90" "11" "22283777" "22283777" "subst" "0.000211358" "00006" "ANO5_000031" "g.22283777T>C" "" "{PMID:Hicks 2011:21186264}" "" "" "" "Germline" "" "" "0" "" "" "g.22262231T>C" "" "pathogenic" "" "0000126656" "2" "90" "11" "22279284" "22279284" "delins" "0" "00006" "ANO5_000032" "g.22279284delinsAT" "" "{PMID:Hicks 2011:21186264}" "" "1391delCinsAT" "" "Germline" "" "" "0" "" "" "g.22257738delinsAT" "" "pathogenic" "" "0000126657" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126658" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126659" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126660" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126661" "2" "90" "11" "22291977" "22291977" "subst" "0" "00006" "ANO5_000029" "g.22291977A>G" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22270431A>G" "" "pathogenic" "" "0000126662" "2" "90" "11" "22291977" "22291977" "subst" "0" "00006" "ANO5_000029" "g.22291977A>G" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22270431A>G" "" "pathogenic" "" "0000126663" "2" "50" "11" "22297723" "22297723" "subst" "0.000118116" "00464" "ANO5_000034" "g.22297723T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22276177T>A" "" "VUS" "" "0000126664" "2" "50" "11" "22281093" "22281093" "subst" "0" "00464" "ANO5_000035" "g.22281093C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22259547C>A" "" "VUS" "" "0000126665" "2" "70" "11" "22284590" "22284590" "subst" "0.000118037" "00464" "ANO5_000033" "g.22284590G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "likely pathogenic" "" "0000126666" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Deschauer 2011:21739273}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126667" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Deschauer 2011:21739273}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126668" "2" "90" "11" "22283687" "22283687" "subst" "0" "00006" "ANO5_000036" "g.22283687C>T" "" "{PMID:Deschauer 2011:21739273}" "" "" "" "Germline" "" "" "0" "" "" "g.22262141C>T" "" "pathogenic" "" "0000126669" "2" "90" "11" "22283687" "22283687" "subst" "0" "00006" "ANO5_000036" "g.22283687C>T" "" "{PMID:Deschauer 2011:21739273}" "" "" "" "Germline" "" "" "0" "" "" "g.22262141C>T" "" "pathogenic" "" "0000126670" "2" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Deschauer 2011:21739273}" "" "R758C" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126671" "2" "90" "11" "22277031" "22277031" "subst" "2.85276E-5" "00006" "ANO5_000003" "g.22277031C>G" "" "Bolduc ASHG2011 A114" "" "" "nonsense mediated mRNA decay" "Germline" "" "" "0" "" "" "g.22255485C>G" "" "pathogenic" "" "0000126672" "2" "70" "11" "22283838" "22283842" "dup" "0" "00464" "ANO5_000037" "g.22283838_22283842dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22262292_22262296dup" "" "likely pathogenic" "" "0000126673" "2" "70" "11" "22249138" "22249138" "subst" "0" "00464" "ANO5_000041" "g.22249138T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22227592T>A" "" "likely pathogenic" "" "0000126674" "2" "90" "11" "22291963" "22291963" "del" "0" "00464" "ANO5_000042" "g.22291963del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22270417del" "" "pathogenic" "" "0000126675" "2" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00006" "ANO5_000039" "g.22239825C>T" "" "{PMID:Witting 2012:23055322}" "" "" "" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000126676" "2" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00006" "ANO5_000039" "g.22239825C>T" "" "{PMID:Witting 2012:23055322}" "" "" "" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000126677" "2" "90" "11" "22297658" "22297658" "subst" "0" "00006" "ANO5_000054" "g.22297658T>A" "" "{PMID:Bouqet 2012:22336395}, {PMID:Sarkozy 2012:22980763}" "" "" "variant not mentioned in Bouqet 2012" "Germline" "" "" "0" "" "" "g.22276112T>A" "" "pathogenic" "" "0000126678" "2" "90" "11" "22297658" "22297658" "subst" "0" "00006" "ANO5_000054" "g.22297658T>A" "" "{PMID:Bouqet 2012:22336395}, {PMID:Sarkozy 2012:22980763}" "" "" "variant not mentioned in Bouqet 2012" "Germline" "" "" "0" "" "" "g.22276112T>A" "" "pathogenic" "" "0000126679" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126680" "2" "90" "11" "22247558" "22247558" "subst" "0" "00006" "ANO5_000050" "g.22247558T>G" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22226012T>G" "" "pathogenic" "" "0000126681" "2" "90" "11" "22281177" "22281177" "del" "0" "00006" "ANO5_000051" "g.22281177del" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22259631del" "" "pathogenic" "" "0000126682" "2" "90" "11" "22239801" "22239801" "subst" "0" "00006" "ANO5_000052" "g.22239801C>T" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22218255C>T" "" "pathogenic" "" "0000126683" "2" "90" "11" "22296266" "22296266" "subst" "0.00871481" "00006" "ANO5_000053" "g.22296266C>T" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22274720C>T" "" "pathogenic" "" "0000126684" "2" "90" "11" "22276946" "22276946" "subst" "4.10277E-6" "00006" "ANO5_000046" "g.22276946C>T" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22255400C>T" "" "pathogenic" "" "0000126685" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126686" "2" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00006" "ANO5_000039" "g.22239825C>T" "" "{PMID:Wahbi 2012:23041008}" "" "" "not in 408 control chromosomes" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000126687" "2" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00006" "ANO5_000039" "g.22239825C>T" "" "{PMID:Wahbi 2012:23041008}" "" "" "not in 408 control chromosomes" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000126688" "2" "90" "11" "22297658" "22297658" "subst" "0" "00006" "ANO5_000054" "g.22297658T>A" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22276112T>A" "" "pathogenic" "" "0000126689" "2" "90" "11" "22283777" "22283777" "subst" "0.000211358" "00006" "ANO5_000031" "g.22283777T>C" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22262231T>C" "" "pathogenic" "" "0000126690" "2" "90" "11" "22283672" "22283672" "subst" "0" "00006" "ANO5_000055" "g.22283672C>G" "" "{PMID:Wahbi 2012:23041008}" "" "IVS15-3C>G" "" "Germline" "" "" "0" "" "" "g.22262126C>G" "" "pathogenic" "" "0000126691" "2" "90" "11" "22283672" "22283672" "subst" "0" "00006" "ANO5_000055" "g.22283672C>G" "" "{PMID:Wahbi 2012:23041008}" "" "IVS15-3C>G" "" "Germline" "" "" "0" "" "" "g.22262126C>G" "" "pathogenic" "" "0000126692" "2" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00006" "ANO5_000039" "g.22239825C>T" "" "{PMID:Wahbi 2012:23041008}" "" "" "not in 408 control chromosomes" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000126693" "2" "90" "11" "22239808" "22239808" "subst" "0.00213491" "00006" "ANO5_000048" "g.22239808A>G" "" "{PMID:Wahbi 2012:23041008}" "" "N52K" "" "Germline" "" "" "0" "" "" "g.22218262A>G" "" "pathogenic" "" "0000126694" "2" "90" "11" "22239808" "22239808" "subst" "0.00213491" "00006" "ANO5_000048" "g.22239808A>G" "" "{PMID:Wahbi 2012:23041008}" "" "N52K" "" "Germline" "" "" "0" "" "" "g.22218262A>G" "" "pathogenic" "" "0000126695" "2" "90" "11" "22239808" "22239808" "subst" "0.00213491" "00006" "ANO5_000048" "g.22239808A>G" "" "{PMID:Wahbi 2012:23041008}" "" "N52K" "" "Germline" "" "" "0" "" "" "g.22218262A>G" "" "pathogenic" "" "0000126696" "2" "90" "11" "22301215" "22301215" "subst" "0.00245329" "00006" "ANO5_000014" "g.22301215C>G" "" "{PMID:Wahbi 2012:23041008}" "" "" "not in 200 control chromosomes" "Germline" "" "rs34969327" "0" "" "" "g.22279669C>G" "" "pathogenic" "" "0000126697" "2" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "" "{PMID:Wahbi 2012:23041008}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000126698" "2" "90" "11" "22247558" "22247558" "subst" "0" "00006" "ANO5_000050" "g.22247558T>G" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22226012T>G" "" "pathogenic" "" "0000126699" "2" "90" "11" "22283672" "22283672" "subst" "0" "00006" "ANO5_000055" "g.22283672C>G" "" "{PMID:Sarkozy 2012:22980763}" "" "IVS15-3C>G" "" "Germline" "" "" "0" "" "" "g.22262126C>G" "" "pathogenic" "" "0000126700" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126701" "2" "90" "11" "22276946" "22276946" "subst" "4.10277E-6" "00006" "ANO5_000046" "g.22276946C>T" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22255400C>T" "" "pathogenic" "" "0000126702" "2" "90" "11" "22296266" "22296266" "subst" "0.00871481" "00006" "ANO5_000053" "g.22296266C>T" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22274720C>T" "" "pathogenic" "" "0000126703" "2" "90" "11" "22281177" "22281177" "del" "0" "00006" "ANO5_000051" "g.22281177del" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22259631del" "" "pathogenic" "" "0000126704" "2" "90" "11" "22291977" "22291977" "subst" "0" "00006" "ANO5_000029" "g.22291977A>G" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22270431A>G" "" "pathogenic" "" "0000126705" "2" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126706" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126707" "2" "90" "11" "22272370" "22272370" "subst" "0" "00006" "ANO5_000057" "g.22272370A>G" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22250824A>G" "" "pathogenic" "" "0000126708" "2" "90" "11" "22272370" "22272370" "subst" "0" "00006" "ANO5_000057" "g.22272370A>G" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22250824A>G" "" "pathogenic" "" "0000126709" "2" "90" "11" "22272370" "22272370" "subst" "0" "00006" "ANO5_000057" "g.22272370A>G" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22250824A>G" "" "pathogenic" "" "0000126710" "2" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Sarkozy 2012:22980763}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126711" "2" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126712" "2" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126713" "2" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126714" "2" "90" "11" "22294401" "22294401" "subst" "8.1244E-6" "00006" "ANO5_000059" "g.22294401A>G" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22272855A>G" "" "pathogenic" "" "0000126715" "2" "90" "11" "22242704" "22242704" "subst" "0.000151007" "00006" "ANO5_000056" "g.22242704A>G" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22221158A>G" "" "pathogenic" "" "0000126716" "2" "90" "11" "22296190" "22296191" "del" "0" "00006" "ANO5_000030" "g.22296190_22296191del" "" "{PMID:Penttila 2012:22402862}" "" "2311-2312delCA" "" "Germline" "" "" "0" "" "" "g.22274644_22274645del" "" "pathogenic" "" "0000126717" "2" "90" "11" "22279305" "22279305" "subst" "8.15142E-6" "00006" "ANO5_000058" "g.22279305G>A" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22257759G>A" "" "pathogenic" "" "0000126718" "2" "90" "11" "22279305" "22279305" "subst" "8.15142E-6" "00006" "ANO5_000058" "g.22279305G>A" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22257759G>A" "" "pathogenic" "" "0000126719" "2" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000126720" "2" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000126721" "2" "90" "11" "22281284" "22281284" "dup" "0" "00006" "ANO5_000061" "g.22281284dup" "" "{PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22259738dup" "" "pathogenic" "" "0000126722" "2" "90" "11" "22281177" "22281177" "del" "0" "00006" "ANO5_000051" "g.22281177del" "" "{PMID:Penttila 2012:22402862}" "" "1502delT" "erroneously reported as 1502delT, changed after contacting the authors" "Germline" "" "" "0" "" "" "g.22259631del" "" "pathogenic" "" "0000126723" "2" "90" "11" "22291924" "22291924" "subst" "8.12222E-6" "00006" "ANO5_000064" "g.22291924G>C" "" "{PMID:Schessl 2012:22499103}" "" "" "" "Germline" "" "" "0" "" "" "g.22270378G>C" "" "pathogenic" "" "0000126724" "2" "90" "11" "22247529" "22247529" "subst" "4.09668E-6" "00006" "ANO5_000065" "g.22247529G>A" "" "{PMID:Schessl 2012:22499103}" "" "" "" "Germline" "" "" "0" "" "" "g.22225983G>A" "" "pathogenic" "" "0000126725" "2" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00006" "ANO5_000039" "g.22239825C>T" "" "{PMID:Schessl 2012:22499103}" "" "" "" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000126726" "2" "90" "11" "22279305" "22279305" "subst" "8.15142E-6" "00006" "ANO5_000058" "g.22279305G>A" "" "{PMID:Schessl 2012:22499103}" "" "" "" "Germline" "" "" "0" "" "" "g.22257759G>A" "" "pathogenic" "" "0000126727" "2" "90" "11" "22281266" "22281266" "subst" "8.14664E-6" "00006" "ANO5_000068" "g.22281266T>C" "" "{PMID:Magrib 2012:22742934}" "" "" "" "Germline" "" "" "0" "" "" "g.22259720T>C" "" "pathogenic" "" "0000126728" "2" "90" "11" "22281284" "22281284" "dup" "0" "00006" "ANO5_000061" "g.22281284dup" "" "{PMID:Magrib 2012:22742934}" "" "" "" "Germline" "" "" "0" "" "" "g.22259738dup" "" "pathogenic" "" "0000126729" "2" "90" "11" "22281284" "22281284" "dup" "0" "00006" "ANO5_000061" "g.22281284dup" "" "{PMID:Magrib 2012:22742934}" "" "" "" "Germline" "" "" "0" "" "" "g.22259738dup" "" "pathogenic" "" "0000126730" "2" "90" "11" "22297741" "22297741" "subst" "0" "00006" "ANO5_000063" "g.22297741T>G" "" "{PMID:Magrib 2012:22742934}" "" "" "" "Germline" "" "" "0" "" "" "g.22276195T>G" "" "pathogenic" "" "0000126731" "2" "90" "11" "22297741" "22297741" "subst" "0" "00006" "ANO5_000063" "g.22297741T>G" "" "{PMID:Magrib 2012:22742934}" "" "" "" "Germline" "" "" "0" "" "" "g.22276195T>G" "" "pathogenic" "" "0000126732" "2" "90" "11" "22248881" "22248881" "subst" "0" "00006" "ANO5_000067" "g.22248881A>T" "" "{PMID:Magrib 2012:22742934}" "" "" "" "Germline" "" "" "0" "" "" "g.22227335A>T" "" "pathogenic" "" "0000126733" "2" "90" "11" "22242653" "22242653" "dup" "0" "00464" "ANO5_000004" "g.22242653dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126734" "2" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00464" "ANO5_000039" "g.22239825C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000126735" "2" "90" "11" "22297642" "22297642" "subst" "1.22309E-5" "00464" "ANO5_000073" "g.22297642A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22276096A>G" "" "pathogenic" "" "0000126736" "2" "90" "11" "22281284" "22281284" "dup" "0" "00464" "ANO5_000061" "g.22281284dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22259738dup" "" "pathogenic" "" "0000126737" "20" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126738" "20" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126739" "20" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126740" "20" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126741" "20" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126742" "20" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126743" "20" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126744" "20" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126745" "20" "90" "11" "22296190" "22296191" "del" "0" "00006" "ANO5_000030" "g.22296190_22296191del" "" "Penttila WMS2010 P1.26, {PMID:Penttila 2012:22402862}" "" "2311_2312delCA" "" "Germline" "" "" "0" "" "" "g.22274644_22274645del" "" "pathogenic" "" "0000126746" "20" "90" "11" "22242653" "22242653" "dup" "0" "00464" "ANO5_000004" "g.22242653dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126747" "20" "90" "11" "22242653" "22242653" "dup" "0" "00464" "ANO5_000004" "g.22242653dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126748" "20" "90" "11" "22242653" "22242653" "dup" "0" "00464" "ANO5_000004" "g.22242653dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126749" "20" "50" "11" "22276939" "22276939" "subst" "4.10951E-6" "00464" "ANO5_000038" "g.22276939G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.22255393G>T" "" "VUS" "" "0000126750" "20" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00464" "ANO5_000039" "g.22239825C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000126751" "20" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00464" "ANO5_000039" "g.22239825C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000126752" "20" "70" "11" "22297723" "22297723" "subst" "0.000118116" "00464" "ANO5_000034" "g.22297723T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22276177T>A" "" "likely pathogenic" "" "0000126753" "20" "90" "11" "22242653" "22242653" "dup" "0" "00464" "ANO5_000004" "g.22242653dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126756" "21" "90" "11" "22277031" "22277031" "subst" "2.85276E-5" "00006" "ANO5_000003" "g.22277031C>G" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0003}" "" "" "identified through linkage; shared 3.6 Mb haplotype; not in 372 control chromosomes" "Germline" "" "" "0" "" "" "g.22255485C>G" "" "pathogenic" "" "0000126757" "21" "90" "11" "22277031" "22277031" "subst" "2.85276E-5" "00006" "ANO5_000003" "g.22277031C>G" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0003}" "" "" "identified through linkage; shared 3.6 Mb haplotype; not in 372 control chromosomes" "Germline" "" "" "0" "" "" "g.22255485C>G" "" "pathogenic" "" "0000126758" "21" "90" "11" "22277031" "22277031" "subst" "2.85276E-5" "00006" "ANO5_000003" "g.22277031C>G" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0003}" "" "" "identified through linkage; shared 3.6 Mb haplotype; not in 372 control chromosomes" "Germline" "" "" "0" "" "" "g.22255485C>G" "" "pathogenic" "" "0000126759" "21" "90" "11" "22277031" "22277031" "subst" "2.85276E-5" "00006" "ANO5_000003" "g.22277031C>G" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0003}" "" "" "identified through linkage; shared 3.6 Mb haplotype; not in 372 control chromosomes" "Germline" "" "" "0" "" "" "g.22255485C>G" "" "pathogenic" "" "0000126760" "21" "90" "11" "22277031" "22277031" "subst" "2.85276E-5" "00006" "ANO5_000003" "g.22277031C>G" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0003}" "" "" "identified through linkage; shared 3.6 Mb haplotype; not in 372 control chromosomes" "Germline" "" "" "0" "" "" "g.22255485C>G" "" "pathogenic" "" "0000126761" "21" "90" "11" "22277031" "22277031" "subst" "2.85276E-5" "00006" "ANO5_000003" "g.22277031C>G" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0003}" "" "" "shared 3.6 Mb haplotype; not in 372 control chromosomes" "Germline" "" "" "0" "" "" "g.22255485C>G" "" "pathogenic" "" "0000126762" "21" "90" "11" "22277031" "22277031" "subst" "2.85276E-5" "00006" "ANO5_000003" "g.22277031C>G" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0003}" "" "" "shared 3.6 Mb haplotype; not in 372 control chromosomes" "Germline" "" "" "0" "" "" "g.22255485C>G" "" "pathogenic" "" "0000126763" "21" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0006}" "" "" "not in 308 conrol chromosomes" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126764" "21" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0006}" "" "" "not in 308 conrol chromosomes" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000126765" "21" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0004}" "" "" "not in 362 control chromosomes" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126766" "21" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0004}" "" "" "not in 362 control chromosomes" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126767" "21" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Bolduc 2010:20096397}, {OMIM608662:0004}" "" "" "not in 362 control chromosomes" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126768" "21" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Hicks 2011:21186264}" "" "" "shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126769" "21" "90" "11" "22242653" "22242653" "dup" "0" "00464" "ANO5_000004" "g.22242653dup" "" "{PMID:Milone 2011:21820307}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126770" "0" "70" "11" "22272339" "22272339" "subst" "0" "00006" "ANO5_000001" "g.22272339T>C" "" "{PMID:Tsutsumi 2004:15124103}" "" "" "cDNA expression cloning COS-7 cells shows decreased cell adhesion, changed cell morphology (round)" "In vitro (cloned)" "" "" "0" "" "" "g.22250793T>C" "" "NA" "" "0000126771" "0" "70" "11" "22272339" "22272339" "subst" "0" "00006" "ANO5_000002" "g.22272339T>G" "" "{PMID:Tsutsumi 2004:15124103}" "" "" "cDNA expression cloning COS-7 cells shows decreased cell adhesion, changed cell morphology (round)" "In vitro (cloned)" "" "" "0" "" "" "g.22250793T>G" "" "NA" "" "0000126772" "0" "50" "11" "22214903" "22214903" "subst" "0" "00006" "ANO5_000026" "g.22214903G>C" "" "" "" "" "" "Germline" "" "rs12792259" "0" "" "" "g.22193357G>C" "" "VUS" "" "0000126773" "0" "50" "11" "22214877" "22214877" "subst" "0" "00006" "ANO5_000027" "g.22214877A>G" "" "" "" "" "" "Germline" "" "rs61879341" "0" "" "" "g.22193331A>G" "" "VUS" "" "0000126774" "0" "50" "11" "22272368" "22272368" "subst" "0.000463716" "00006" "ANO5_000019" "g.22272368A>G" "0.01" "" "" "" "" "Germline" "" "rs35804601" "0" "" "" "g.22250822A>G" "" "VUS" "" "0000126775" "0" "50" "11" "22233029" "22233029" "subst" "0" "00006" "ANO5_000009" "g.22233029G>A" "0.31-0.88" "" "" "" "" "Germline" "" "rs4922980" "0" "" "" "g.22211483G>A" "" "VUS" "" "0000126776" "0" "50" "11" "22233066" "22233066" "subst" "0" "00006" "ANO5_000010" "g.22233066T>C" "0.19-0.90" "" "" "" "" "Germline" "" "rs4922981" "0" "" "" "g.22211520T>C" "" "VUS" "" "0000126777" "0" "50" "11" "22281202" "22281202" "subst" "0.00139036" "00006" "ANO5_000020" "g.22281202A>G" "0.01" "" "" "" "" "Germline" "" "rs35843353" "0" "" "" "g.22259656A>G" "" "VUS" "" "0000126778" "0" "50" "11" "22281468" "22281468" "subst" "0" "00006" "ANO5_000022" "g.22281468A>G" "0-0.35" "" "" "" "" "Germline" "" "rs7108392" "0" "" "" "g.22259922A>G" "" "VUS" "" "0000126779" "0" "50" "11" "22281348" "22281348" "subst" "0" "00006" "ANO5_000021" "g.22281348T>G" "0-0.24" "" "" "" "" "Germline" "" "rs12574168" "0" "" "" "g.22259802T>G" "" "VUS" "" "0000126780" "0" "50" "11" "22240056" "22240056" "subst" "0" "00006" "ANO5_000008" "g.22240056G>A" "0.02-0.47" "" "" "" "" "Germline" "" "rs4620717" "0" "" "" "g.22218510G>A" "" "VUS" "" "0000126781" "0" "50" "11" "22292135" "22292135" "subst" "0" "00006" "ANO5_000023" "g.22292135A>G" "0-0.03" "" "" "" "" "Germline" "" "rs7925115" "0" "" "" "g.22270589A>G" "" "VUS" "" "0000126782" "0" "50" "11" "22297770" "22297770" "subst" "0.233433" "00006" "ANO5_000024" "g.22297770G>C" "0.02-0.53" "" "" "" "" "Germline" "" "rs11026488" "0" "" "" "g.22276224G>C" "" "VUS" "" "0000126783" "0" "50" "11" "22301061" "22301061" "subst" "0.00453503" "00006" "ANO5_000025" "g.22301061G>A" "0-0.04" "" "" "" "" "Germline" "" "rs12282177" "0" "" "" "g.22279515G>A" "" "VUS" "" "0000126784" "0" "50" "11" "22247205" "22247205" "subst" "0" "00006" "ANO5_000011" "g.22247205A>G" "0.35-0.94" "" "" "" "" "Germline" "" "rs4509753" "0" "" "" "g.22225659A>G" "" "VUS" "" "0000126785" "0" "50" "11" "22257595" "22257595" "subst" "0" "00006" "ANO5_000012" "g.22257595T>G" "0-0.55" "" "" "" "" "Germline" "" "rs11820954" "0" "" "" "g.22236049T>G" "" "VUS" "" "0000126786" "0" "50" "11" "22257543" "22257543" "subst" "0" "00006" "ANO5_000013" "g.22257543A>G" "0-0.53" "" "" "" "" "Germline" "" "rs4534588" "0" "" "" "g.22235997A>G" "" "VUS" "" "0000126787" "0" "50" "11" "22257909" "22257909" "subst" "0" "00006" "ANO5_000015" "g.22257909G>A" "0-0.53" "" "" "" "" "Germline" "" "rs11026471" "0" "" "" "g.22236363G>A" "" "VUS" "" "0000126788" "0" "50" "11" "22271707" "22271707" "subst" "0" "00006" "ANO5_000017" "g.22271707T>A" "" "" "" "" "" "Germline" "" "rs7104736" "0" "" "" "g.22250161T>A" "" "VUS" "" "0000126789" "0" "90" "11" "22276946" "22276946" "subst" "4.10277E-6" "00430" "ANO5_000046" "g.22276946C>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.22255400C>T" "" "pathogenic" "" "0000126790" "0" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000004" "g.22242653dup" "" "" "" "191dupA" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000126791" "0" "10" "11" "22301077" "22301077" "subst" "0.0292438" "00430" "ANO5_000047" "g.22301077A>G" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.22279531A>G" "" "benign" "" "0000126792" "0" "10" "11" "22242729" "22242729" "subst" "0.766101" "00430" "ANO5_000007" "g.22242729T>C" "" "" "" "D89D" "from website {DBsub-Emory}" "Germline" "" "rs4312063" "0" "" "" "g.22221183T>C" "" "benign" "" "0000126793" "0" "50" "11" "22248840" "22248840" "del" "0" "00430" "ANO5_000045" "g.22248840del" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.22227294del" "" "VUS" "" "0000126794" "0" "50" "11" "22225349" "22225349" "subst" "1.25104E-5" "00430" "ANO5_000044" "g.22225349G>A" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "" "0" "" "" "g.22203803G>A" "" "VUS" "" "0000126795" "0" "10" "11" "22271765" "22271765" "subst" "0.0156763" "00430" "ANO5_000016" "g.22271765T>C" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "rs7104758" "0" "" "" "g.22250219T>C" "" "benign" "" "0000126796" "0" "10" "11" "22271870" "22271870" "subst" "0.480109" "00430" "ANO5_000018" "g.22271870A>T" "" "" "" "" "from website {DBsub-Emory}" "Germline" "" "rs7481951" "0" "" "" "g.22250324A>T" "" "benign" "" "0000246983" "0" "10" "11" "22301077" "22301077" "subst" "0.0292438" "02330" "ANO5_000047" "g.22301077A>G" "" "" "" "ANO5(NM_001142649.1):c.2518-13A>G (p.(=)), ANO5(NM_213599.2):c.2521-13A>G, ANO5(NM_213599.3):c.2521-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22279531A>G" "" "benign" "" "0000248639" "0" "10" "11" "22281202" "22281202" "subst" "0.00139036" "02325" "ANO5_000020" "g.22281202A>G" "" "" "" "ANO5(NM_001142649.1):c.1542A>G (p.(Ser514=)), ANO5(NM_213599.2):c.1545A>G (p.S515=), ANO5(NM_213599.3):c.1545A>G (p.S515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22259656A>G" "" "benign" "" "0000248921" "0" "10" "11" "22249100" "22249100" "subst" "0.00217652" "02325" "ANO5_000094" "g.22249100A>G" "" "" "" "ANO5(NM_001142649.1):c.613A>G (p.(Thr205Ala)), ANO5(NM_213599.3):c.616A>G (p.T206A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22227554A>G" "" "benign" "" "0000249385" "0" "30" "11" "22232851" "22232851" "subst" "2.85498E-5" "02325" "ANO5_000081" "g.22232851A>G" "" "" "" "ANO5(NM_213599.2):c.129A>G (p.E43=), ANO5(NM_213599.3):c.129A>G (p.E43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22211305A>G" "" "likely benign" "" "0000249457" "0" "30" "11" "22279241" "22279241" "subst" "0" "02325" "ANO5_000128" "g.22279241A>T" "" "" "" "ANO5(NM_001142649.1):c.1345A>T (p.(Met449Leu)), ANO5(NM_213599.3):c.1348A>T (p.M450L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22257695A>T" "" "likely benign" "" "0000249554" "0" "30" "11" "22279319" "22279319" "subst" "6.54477E-5" "02325" "ANO5_000103" "g.22279319A>T" "" "" "" "ANO5(NM_213599.3):c.1407+19A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22257773A>T" "" "likely benign" "" "0000250984" "0" "10" "11" "22301077" "22301077" "subst" "0.0292438" "02326" "ANO5_000047" "g.22301077A>G" "" "" "" "ANO5(NM_001142649.1):c.2518-13A>G (p.(=)), ANO5(NM_213599.2):c.2521-13A>G, ANO5(NM_213599.3):c.2521-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22279531A>G" "" "benign" "" "0000257876" "0" "50" "11" "22277009" "22277009" "subst" "0" "02330" "ANO5_000102" "g.22277009C>T" "" "" "" "ANO5(NM_213599.3):c.1273C>T (p.Q425*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22255463C>T" "" "VUS" "" "0000257877" "0" "90" "11" "22284590" "22284590" "subst" "0.000118037" "02330" "ANO5_000033" "g.22284590G>A" "" "" "" "ANO5(NM_001142649.1):c.1895+1G>A (p.?), ANO5(NM_001142649.2):c.1895+1G>A, ANO5(NM_213599.2):c.1898+1G>A, ANO5(NM_213599.3):c.1898+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic" "" "0000257879" "0" "10" "11" "22296102" "22296105" "del" "0" "02330" "ANO5_000110" "g.22296102_22296105del" "" "" "" "ANO5(NM_001142649.1):c.2233-20_2233-17del (p.(=)), ANO5(NM_001142649.2):c.2233-13_2233-10delTTTT, ANO5(NM_213599.3):c.2236-13_2236-10delTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22274556_22274559del" "" "benign" "" "0000257880" "0" "10" "11" "22296105" "22296105" "del" "0" "02330" "ANO5_000109" "g.22296105del" "" "" "" "ANO5(NM_001142649.1):c.2233-17del (p.(=)), ANO5(NM_213599.2):c.2236-10delT, ANO5(NM_213599.3):c.2236-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22274559del" "" "benign" "" "0000257882" "0" "10" "11" "22242729" "22242729" "subst" "0.766101" "02330" "ANO5_000007" "g.22242729T>C" "" "" "" "ANO5(NM_001142649.2):c.264T>C (p.D88=), ANO5(NM_213599.2):c.267T>C (p.D89=), ANO5(NM_213599.3):c.267T>C (p.D89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22221183T>C" "" "benign" "" "0000257884" "0" "10" "11" "22248840" "22248840" "del" "0" "02330" "ANO5_000090" "g.22248840del" "" "" "" "ANO5(NM_213599.3):c.364-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22227294del" "" "benign" "" "0000257885" "0" "50" "11" "22261194" "22261194" "subst" "0" "02330" "ANO5_000098" "g.22261194C>T" "" "" "" "ANO5(NM_213599.3):c.842C>T (p.S281F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22239648C>T" "" "VUS" "" "0000257886" "0" "10" "11" "22271765" "22271765" "subst" "0.0156763" "02330" "ANO5_000016" "g.22271765T>C" "" "" "" "ANO5(NM_213599.3):c.879-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22250219T>C" "" "benign" "" "0000258755" "0" "10" "11" "22242729" "22242729" "subst" "0.766101" "02325" "ANO5_000007" "g.22242729T>C" "" "" "" "ANO5(NM_001142649.2):c.264T>C (p.D88=), ANO5(NM_213599.2):c.267T>C (p.D89=), ANO5(NM_213599.3):c.267T>C (p.D89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22221183T>C" "" "benign" "" "0000259096" "0" "10" "11" "22239854" "22239854" "subst" "0.000858624" "02325" "ANO5_000082" "g.22239854T>C" "" "" "" "ANO5(NM_213599.3):c.180+21T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22218308T>C" "" "benign" "" "0000259097" "0" "10" "11" "22296105" "22296105" "del" "0" "02325" "ANO5_000114" "g.22296105del" "" "" "" "ANO5(NM_001142649.1):c.2233-17del (p.(=)), ANO5(NM_213599.2):c.2236-10delT, ANO5(NM_213599.3):c.2236-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22274559del" "" "benign" "" "0000259098" "0" "10" "11" "22296102" "22296105" "del" "0" "02325" "ANO5_000112" "g.22296102_22296105del" "" "" "" "ANO5(NM_001142649.1):c.2233-20_2233-17del (p.(=)), ANO5(NM_001142649.2):c.2233-13_2233-10delTTTT, ANO5(NM_213599.3):c.2236-13_2236-10delTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22274556_22274559del" "" "benign" "" "0000259099" "0" "10" "11" "22247522" "22247522" "dup" "0" "02325" "ANO5_000088" "g.22247522dup" "" "" "" "ANO5(NM_213599.3):c.295-8dup, ANO5(NM_213599.3):c.295-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22225976dup" "" "benign" "" "0000259100" "0" "10" "11" "22248840" "22248840" "del" "0" "02325" "ANO5_000091" "g.22248840del" "" "" "" "ANO5(NM_213599.3):c.364-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22227294del" "" "benign" "" "0000259496" "0" "30" "11" "22283733" "22283733" "subst" "4.06402E-6" "02325" "ANO5_000106" "g.22283733T>C" "" "" "" "ANO5(NM_213599.2):c.1689T>C (p.F563=), ANO5(NM_213599.3):c.1689T>C (p.F563=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22262187T>C" "" "likely benign" "" "0000259497" "0" "30" "11" "22284509" "22284509" "subst" "8.13094E-6" "02325" "ANO5_000107" "g.22284509T>C" "" "" "" "ANO5(NM_213599.3):c.1818T>C (p.C606=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22262963T>C" "" "likely benign" "" "0000259498" "0" "30" "11" "22296103" "22296105" "del" "0" "02325" "ANO5_000113" "g.22296103_22296105del" "" "" "" "ANO5(NM_213599.3):c.2236-12_2236-10delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22274557_22274559del" "" "likely benign" "" "0000259499" "0" "30" "11" "22296135" "22296135" "subst" "0.00169022" "02325" "ANO5_000117" "g.22296135G>A" "" "" "" "ANO5(NM_001142649.1):c.2253G>A (p.(Thr751=)), ANO5(NM_213599.3):c.2256G>A (p.T752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22274589G>A" "" "likely benign" "" "0000259500" "0" "30" "11" "22296313" "22296316" "del" "0" "02325" "ANO5_000119" "g.22296313_22296316del" "" "" "" "ANO5(NM_213599.3):c.2414+20_2414+23delGTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22274767_22274770del" "" "likely benign" "" "0000259501" "0" "30" "11" "22301191" "22301191" "subst" "2.03434E-5" "02325" "ANO5_000123" "g.22301191G>A" "" "" "" "ANO5(NM_213599.2):c.2622G>A (p.K874=), ANO5(NM_213599.3):c.2622G>A (p.K874=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22279645G>A" "" "likely benign" "" "0000259502" "0" "30" "11" "22242756" "22242756" "subst" "0.000709016" "02325" "ANO5_000086" "g.22242756G>A" "" "" "" "ANO5(NM_213599.3):c.294G>A (p.A98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22221210G>A" "" "likely benign" "" "0000259503" "0" "30" "11" "22249037" "22249037" "subst" "0.000199628" "02325" "ANO5_000092" "g.22249037G>C" "" "" "" "ANO5(NM_213599.3):c.553G>C (p.E185Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22227491G>C" "" "likely benign" "" "0000259504" "0" "30" "11" "22257780" "22257780" "subst" "0.000541108" "02325" "ANO5_000096" "g.22257780G>T" "" "" "" "ANO5(NM_213599.3):c.720G>T (p.L240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22236234G>T" "" "likely benign" "" "0000259662" "0" "50" "11" "22281107" "22281107" "subst" "2.43764E-5" "02325" "ANO5_000104" "g.22281107C>T" "" "" "" "ANO5(NM_213599.3):c.1450C>T (p.R484C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22259561C>T" "" "VUS" "" "0000259663" "0" "50" "11" "22301090" "22301090" "subst" "4.5013E-5" "02325" "ANO5_000122" "g.22301090C>G" "" "" "" "ANO5(NM_213599.3):c.2521C>G (p.H841D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22279544C>G" "" "VUS" "" "0000259664" "0" "50" "11" "22242727" "22242727" "subst" "8.16646E-6" "02325" "ANO5_000085" "g.22242727G>T" "" "" "" "ANO5(NM_213599.3):c.265G>T (p.D89Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22221181G>T" "" "VUS" "" "0000259665" "0" "50" "11" "22247552" "22247552" "subst" "4.08337E-6" "02325" "ANO5_000089" "g.22247552C>A" "" "" "" "ANO5(NM_213599.3):c.317C>A (p.T106N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22226006C>A" "" "VUS" "" "0000259724" "0" "70" "11" "22261233" "22261236" "del" "0" "02325" "ANO5_000099" "g.22261233_22261236del" "" "" "" "ANO5(NM_213599.3):c.878+3_878+6delAAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22239687_22239690del" "" "likely pathogenic" "" "0000259728" "0" "90" "11" "22284590" "22284590" "subst" "0.000118037" "02325" "ANO5_000033" "g.22284590G>A" "" "" "" "ANO5(NM_001142649.1):c.1895+1G>A (p.?), ANO5(NM_001142649.2):c.1895+1G>A, ANO5(NM_213599.2):c.1898+1G>A, ANO5(NM_213599.3):c.1898+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic" "" "0000259752" "0" "90" "11" "22242653" "22242653" "dup" "0" "02325" "ANO5_000084" "g.22242653dup" "" "" "" "ANO5(NM_001142649.1):c.188dup (p.(Asn63Lysfs*15)), ANO5(NM_001142649.2):c.188dupA (p.N63Kfs*15), ANO5(NM_213599.2):c.191dupA (p.N64Kfs*15), ANO5(N...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000259754" "0" "90" "11" "22257752" "22257752" "subst" "0.000964497" "02325" "ANO5_000005" "g.22257752G>T" "" "" "" "ANO5(NM_001142649.1):c.689G>T (p.(Gly230Val)), ANO5(NM_213599.2):c.692G>T (p.G231V), ANO5(NM_213599.3):c.692G>T (p.G231V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000260992" "0" "90" "11" "22272376" "22272376" "subst" "4.47445E-5" "02326" "ANO5_000101" "g.22272376C>T" "" "" "" "ANO5(NM_213599.2):c.1103C>T (p.T368M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22250830C>T" "" "pathogenic" "" "0000260994" "0" "30" "11" "22296105" "22296105" "del" "0" "02326" "ANO5_000111" "g.22296105del" "" "" "" "ANO5(NM_001142649.1):c.2233-17del (p.(=)), ANO5(NM_213599.2):c.2236-10delT, ANO5(NM_213599.3):c.2236-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22274559del" "" "likely benign" "" "0000260995" "0" "10" "11" "22242729" "22242729" "subst" "0.766101" "02326" "ANO5_000007" "g.22242729T>C" "" "" "" "ANO5(NM_001142649.2):c.264T>C (p.D88=), ANO5(NM_213599.2):c.267T>C (p.D89=), ANO5(NM_213599.3):c.267T>C (p.D89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22221183T>C" "" "benign" "" "0000260996" "0" "10" "11" "22249088" "22249088" "subst" "0.00235226" "02326" "ANO5_000093" "g.22249088G>A" "" "" "" "ANO5(NM_001142649.1):c.601G>A (p.(Glu201Lys)), ANO5(NM_213599.2):c.604G>A (p.E202K), ANO5(NM_213599.3):c.604G>A (p.E202K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22227542G>A" "" "benign" "" "0000322157" "0" "90" "11" "22242653" "22242653" "dup" "0" "01804" "ANO5_000084" "g.22242653dup" "" "" "" "ANO5(NM_001142649.1):c.188dup (p.(Asn63Lysfs*15)), ANO5(NM_001142649.2):c.188dupA (p.N63Kfs*15), ANO5(NM_213599.2):c.191dupA (p.N64Kfs*15), ANO5(N...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000322159" "0" "50" "11" "22257734" "22257734" "subst" "4.07097E-5" "01804" "ANO5_000095" "g.22257734C>T" "" "" "" "ANO5(NM_213599.2):c.674C>T (p.(Pro225Leu)), ANO5(NM_213599.3):c.674C>T (p.P225L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22236188C>T" "" "VUS" "" "0000322160" "0" "90" "11" "22257752" "22257752" "subst" "0.000964497" "01804" "ANO5_000005" "g.22257752G>T" "" "" "" "ANO5(NM_001142649.1):c.689G>T (p.(Gly230Val)), ANO5(NM_213599.2):c.692G>T (p.G231V), ANO5(NM_213599.3):c.692G>T (p.G231V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000322162" "0" "50" "11" "22261152" "22261152" "subst" "0.00163852" "01804" "ANO5_000097" "g.22261152C>G" "" "" "" "ANO5(NM_001142649.1):c.797C>G (p.(Thr266Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22239606C>G" "" "VUS" "" "0000322163" "0" "50" "11" "22271895" "22271895" "subst" "0" "01804" "ANO5_000100" "g.22271895T>A" "" "" "" "ANO5(NM_001142649.1):c.988T>A (p.(Ser330Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22250349T>A" "" "VUS" "" "0000322164" "0" "70" "11" "22281156" "22281156" "subst" "0" "01804" "ANO5_000105" "g.22281156C>T" "" "" "" "ANO5(NM_213599.2):c.1499C>T (p.(Ser500Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22259610C>T" "" "likely pathogenic" "" "0000322165" "0" "30" "11" "22281202" "22281202" "subst" "0.00139036" "01804" "ANO5_000020" "g.22281202A>G" "" "" "" "ANO5(NM_001142649.1):c.1542A>G (p.(Ser514=)), ANO5(NM_213599.2):c.1545A>G (p.S515=), ANO5(NM_213599.3):c.1545A>G (p.S515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22259656A>G" "" "likely benign" "" "0000322166" "0" "90" "11" "22284590" "22284590" "subst" "0.000118037" "01804" "ANO5_000033" "g.22284590G>A" "" "" "" "ANO5(NM_001142649.1):c.1895+1G>A (p.?), ANO5(NM_001142649.2):c.1895+1G>A, ANO5(NM_213599.2):c.1898+1G>A, ANO5(NM_213599.3):c.1898+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic" "" "0000322168" "0" "30" "11" "22296105" "22296105" "del" "0" "01804" "ANO5_000109" "g.22296105del" "" "" "" "ANO5(NM_001142649.1):c.2233-17del (p.(=)), ANO5(NM_213599.2):c.2236-10delT, ANO5(NM_213599.3):c.2236-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22274559del" "" "likely benign" "" "0000322171" "0" "50" "11" "22296102" "22296105" "del" "0" "01804" "ANO5_000110" "g.22296102_22296105del" "" "" "" "ANO5(NM_001142649.1):c.2233-20_2233-17del (p.(=)), ANO5(NM_001142649.2):c.2233-13_2233-10delTTTT, ANO5(NM_213599.3):c.2236-13_2236-10delTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22274556_22274559del" "" "VUS" "" "0000322174" "0" "30" "11" "22296109" "22296109" "subst" "0" "01804" "ANO5_000116" "g.22296109C>T" "" "" "" "ANO5(NM_001142649.1):c.2233-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22274563C>T" "" "likely benign" "" "0000322176" "0" "30" "11" "22296266" "22296266" "subst" "0.00871481" "01804" "ANO5_000053" "g.22296266C>T" "" "" "" "ANO5(NM_001142649.1):c.2384C>T (p.(Ser795Leu)), ANO5(NM_213599.2):c.2387C>T (p.S796L), ANO5(NM_213599.3):c.2387C>T (p.S796L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22274720C>T" "" "likely benign" "" "0000322178" "0" "50" "11" "22297728" "22297730" "del" "0" "01804" "ANO5_000121" "g.22297728_22297730del" "" "" "" "ANO5(NM_001142649.1):c.2499_2501del (p.(Phe834del)), ANO5(NM_213599.3):c.2503_2505delTTC (p.F835del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22276182_22276184del" "" "VUS" "" "0000322179" "0" "30" "11" "22301077" "22301077" "subst" "0.0292438" "01804" "ANO5_000047" "g.22301077A>G" "" "" "" "ANO5(NM_001142649.1):c.2518-13A>G (p.(=)), ANO5(NM_213599.2):c.2521-13A>G, ANO5(NM_213599.3):c.2521-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22279531A>G" "" "likely benign" "" "0000322180" "0" "30" "11" "22301267" "22301267" "subst" "0.0012538" "01804" "ANO5_000124" "g.22301267A>C" "" "" "" "ANO5(NM_001142649.1):c.2695A>C (p.(Met899Leu)), ANO5(NM_213599.2):c.2698A>C (p.M900L), ANO5(NM_213599.3):c.2698A>C (p.M900L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22279721A>C" "" "likely benign" "" "0000339687" "0" "10" "11" "22242729" "22242729" "subst" "0.766101" "02327" "ANO5_000007" "g.22242729T>C" "" "" "" "ANO5(NM_001142649.2):c.264T>C (p.D88=), ANO5(NM_213599.2):c.267T>C (p.D89=), ANO5(NM_213599.3):c.267T>C (p.D89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22221183T>C" "" "benign" "" "0000342830" "0" "90" "11" "22276946" "22276946" "subst" "4.10277E-6" "02327" "ANO5_000046" "g.22276946C>T" "" "" "" "ANO5(NM_213599.3):c.1210C>T (p.R404*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22255400C>T" "" "pathogenic" "" "0000343143" "0" "70" "11" "22239825" "22239825" "subst" "9.76173E-5" "02327" "ANO5_000039" "g.22239825C>T" "" "" "" "ANO5(NM_213599.3):c.172C>T (p.(Arg58Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22218279C>T" "" "likely pathogenic" "" "0000343341" "0" "70" "11" "22296151" "22296151" "subst" "0.000580051" "02327" "ANO5_000006" "g.22296151C>T" "" "" "" "ANO5(NM_213599.2):c.2272C>T (p.(Arg758Cys)), ANO5(NM_213599.3):c.2272C>T (p.R758C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22274605C>T" "" "likely pathogenic" "" "0000345679" "0" "50" "11" "22248861" "22248861" "subst" "0" "02327" "ANO5_000125" "g.22248861G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22227315G>T" "" "VUS" "" "0000347109" "0" "10" "11" "22271870" "22271870" "subst" "0.480109" "02327" "ANO5_000018" "g.22271870A>T" "" "" "" "ANO5(NM_001142649.2):c.963A>T (p.L321F), ANO5(NM_213599.3):c.966A>T (p.L322F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22250324A>T" "" "benign" "" "0000348037" "0" "50" "11" "22272542" "22272542" "subst" "4.09313E-6" "02327" "ANO5_000126" "g.22272542T>C" "" "" "" "ANO5(NM_213599.3):c.1165T>C (p.(Phe389Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22250996T>C" "" "VUS" "" "0000349175" "0" "30" "11" "22296266" "22296266" "subst" "0.00871481" "02327" "ANO5_000053" "g.22296266C>T" "" "" "" "ANO5(NM_001142649.1):c.2384C>T (p.(Ser795Leu)), ANO5(NM_213599.2):c.2387C>T (p.S796L), ANO5(NM_213599.3):c.2387C>T (p.S796L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22274720C>T" "" "likely benign" "" "0000351049" "0" "90" "11" "22284590" "22284590" "subst" "0.000118037" "02327" "ANO5_000033" "g.22284590G>A" "" "" "" "ANO5(NM_001142649.1):c.1895+1G>A (p.?), ANO5(NM_001142649.2):c.1895+1G>A, ANO5(NM_213599.2):c.1898+1G>A, ANO5(NM_213599.3):c.1898+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic" "" "0000398479" "1" "70" "11" "22242704" "22242704" "subst" "0.000151007" "00006" "ANO5_000056" "g.22242704A>G" "" "{PMID:Fichna 2018:29970176}" "" "" "ACMG grading: PS3, PS4, PM3, PP3; additional variants in NEB, DES, TTN" "Germline" "" "" "0" "" "" "g.22221158A>G" "" "likely pathogenic" "ACMG" "0000398480" "2" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Fichna 2018:29970176}" "" "" "ACMG grading: PS3, PM2, PM4, PP2, PP3; additional variants in NEB, DES, TTN" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "ACMG" "0000398481" "1" "70" "11" "22242704" "22242704" "subst" "0.000151007" "00006" "ANO5_000056" "g.22242704A>G" "" "{PMID:Fichna 2018:29970176}" "" "" "ACMG grading: PS3, PS4, PM3, PP3; additional variants in BAG3, FLNC, CHRNE, CACNA1S, TTN x2" "Germline" "" "" "0" "" "" "g.22221158A>G" "" "likely pathogenic" "ACMG" "0000398482" "2" "90" "11" "22276939" "22276939" "subst" "0" "00006" "ANO5_000129" "g.22276939G>A" "" "{PMID:Fichna 2018:29970176}" "" "" "ACMG grading: PVS1, PM4, PP3, PP5; additional variants in BAG3, FLNC, CHRNE, CACNA1S, TTN x2" "Germline" "" "" "0" "" "" "g.22255393G>A" "" "pathogenic" "ACMG" "0000439068" "0" "70" "11" "22297723" "22297723" "subst" "0.000118116" "01164" "ANO5_000034" "g.22297723T>A" "" "" "" "" "ACMG grading: PP3,PP5,PP1,PM2,PM3; male patient, compound heterozygous for ANO5 c.2498T>A (p.Met833Lys) het + c.1520del (p.Phe507Serfs*6) het; reported in Liewluck 2013. Eur J Neurol 20: 1383 patient with hyperCKemia and myalgia" "Germline" "" "rs142073798" "0" "" "" "g.22276177T>A" "" "likely pathogenic" "ACMG" "0000439069" "0" "70" "11" "22281177" "22281177" "del" "0" "01164" "ANO5_000130" "g.22281177del" "" "" "" "" "ACMG grading: PVS1,PM2; male patient, compound heterozygous for ANO5 c.2498T>A (p.Met833Lys) het + c.1520del (p.Phe507Serfs*6) het" "Germline" "" "rs794727158" "0" "" "" "g.22259631del" "" "likely pathogenic" "ACMG" "0000440081" "0" "70" "11" "22283777" "22283777" "subst" "0.000211358" "01164" "ANO5_000031" "g.22283777T>C" "" "" "" "" "ACMG grading: PM3,PP3,PP5,PM2; not regarded causative for phenotype in patient, no second variant in ANO5 detected; reported in Hicks 2011. Brain 134: 171; Wahbi 2013. Int J Cardiol 168: 76" "Germline" "" "rs137854526" "0" "" "" "g.22262231T>C" "" "likely pathogenic" "ACMG" "0000460212" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460213" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000460214" "1" "90" "11" "22301089" "22301089" "del" "4.094E-6" "00430" "ANO5_000222" "g.22301089del" "" "{PMID:Nallamilli 2018:30564623}" "" "2521-1delG" "" "Germline" "" "" "0" "" "" "g.22279543del" "" "pathogenic" "" "0000460215" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460216" "1" "50" "11" "22272336" "22272336" "subst" "0" "00430" "ANO5_000172" "g.22272336C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22250790C>T" "" "VUS" "" "0000460217" "1" "50" "11" "22294380" "22294380" "subst" "0" "00430" "ANO5_000208" "g.22294380C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22272834C>T" "" "VUS" "" "0000460218" "1" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00430" "ANO5_000033" "g.22284590G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic" "" "0000460219" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460220" "1" "50" "11" "22283684" "22283684" "subst" "0.000146549" "00430" "ANO5_000193" "g.22283684G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22262138G>A" "" "VUS" "" "0000460221" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460222" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00430" "ANO5_000006" "g.22296151C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000460223" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460224" "1" "50" "11" "22294444" "22294444" "subst" "0" "00430" "ANO5_000211" "g.22294444A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22272898A>G" "" "VUS" "" "0000460225" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460226" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460227" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460228" "1" "50" "11" "22257724" "22257724" "subst" "0" "00430" "ANO5_000153" "g.22257724T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22236178T>C" "" "VUS" "" "0000460229" "1" "50" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "VUS" "" "0000460230" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460231" "1" "50" "11" "22242647" "22242647" "subst" "2.87463E-5" "00430" "ANO5_000138" "g.22242647A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22221101A>G" "" "VUS" "" "0000460232" "1" "50" "11" "22215049" "22215049" "subst" "8.3291E-6" "00430" "ANO5_000131" "g.22215049C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22193503C>G" "" "VUS" "" "0000460233" "1" "90" "11" "22272345" "22272345" "subst" "0" "00430" "ANO5_000173" "g.22272345C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "consistent with diagnosis muscular dystrophy" "Germline" "" "" "0" "" "" "g.22250799C>T" "" "pathogenic" "" "0000460234" "1" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00430" "ANO5_000039" "g.22239825C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "consistent with diagnosis muscular dystrophy" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000460235" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460236" "1" "50" "11" "22261155" "22261155" "subst" "3.65904E-5" "00430" "ANO5_000158" "g.22261155A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22239609A>G" "" "VUS" "" "0000460237" "3" "90" "11" "22291963" "22291963" "del" "0" "00430" "ANO5_000042" "g.22291963del" "" "{PMID:Nallamilli 2018:30564623}" "" "2004delG" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22270417del" "" "pathogenic" "" "0000460238" "1" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00430" "ANO5_000039" "g.22239825C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000460239" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000460240" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460241" "1" "50" "11" "22294441" "22294441" "subst" "0.000873238" "00430" "ANO5_000060" "g.22294441C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22272895C>G" "" "VUS" "" "0000460242" "3" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00430" "ANO5_000006" "g.22296151C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000460243" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460244" "1" "50" "11" "22283708" "22283708" "subst" "8.5361E-5" "00430" "ANO5_000071" "g.22283708G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22262162G>T" "" "VUS" "" "0000460245" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460246" "1" "50" "11" "22281220" "22281220" "subst" "4.06646E-5" "00430" "ANO5_000188" "g.22281220G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22259674G>T" "" "VUS" "" "0000460247" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460248" "1" "50" "11" "22261155" "22261155" "subst" "3.65904E-5" "00430" "ANO5_000158" "g.22261155A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22239609A>G" "" "VUS" "" "0000460249" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460250" "1" "50" "11" "22281220" "22281220" "subst" "4.06646E-5" "00430" "ANO5_000188" "g.22281220G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22259674G>T" "" "VUS" "" "0000460251" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460252" "3" "90" "11" "22271893" "22271893" "dup" "0" "00430" "ANO5_000169" "g.22271893dup" "" "{PMID:Nallamilli 2018:30564623}" "" "989dupT" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22250347dup" "" "pathogenic" "" "0000460253" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460254" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460255" "1" "50" "11" "22271827" "22271827" "subst" "0" "00430" "ANO5_000167" "g.22271827G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22250281G>A" "" "VUS" "" "0000460256" "1" "50" "11" "22271827" "22271827" "subst" "0" "00430" "ANO5_000167" "g.22271827G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22250281G>A" "" "VUS" "" "0000460257" "1" "50" "11" "22272379" "22272379" "subst" "0" "00430" "ANO5_000174" "g.22272379G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22250833G>A" "" "VUS" "" "0000460258" "1" "50" "11" "22272379" "22272379" "subst" "0" "00430" "ANO5_000174" "g.22272379G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22250833G>A" "" "VUS" "" "0000460259" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460260" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460261" "1" "50" "11" "22249063" "22249063" "subst" "0" "00430" "ANO5_000149" "g.22249063A>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22227517A>T" "" "VUS" "" "0000460262" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460263" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous; no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460264" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460265" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000460266" "1" "50" "11" "22272389" "22272389" "subst" "1.22029E-5" "00430" "ANO5_000175" "g.22272389A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22250843A>G" "" "VUS" "" "0000460267" "1" "50" "11" "22247566" "22247566" "subst" "2.0407E-5" "00430" "ANO5_000143" "g.22247566A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22226020A>C" "" "VUS" "" "0000460268" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460269" "1" "50" "11" "22257809" "22257809" "subst" "2.03518E-5" "00430" "ANO5_000155" "g.22257809A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22236263A>G" "" "VUS" "" "0000460270" "1" "50" "11" "22248908" "22248908" "subst" "1.62739E-5" "00430" "ANO5_000146" "g.22248908A>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22227362A>T" "" "VUS" "" "0000460271" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460272" "1" "50" "11" "22301090" "22301090" "subst" "4.5013E-5" "00430" "ANO5_000122" "g.22301090C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22279544C>G" "" "VUS" "" "0000460273" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000460274" "1" "50" "11" "22276979" "22276979" "subst" "4.0829E-6" "00430" "ANO5_000180" "g.22276979G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22255433G>A" "" "VUS" "" "0000460275" "1" "50" "11" "22276979" "22276979" "subst" "4.0829E-6" "00430" "ANO5_000180" "g.22276979G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22255433G>A" "" "VUS" "" "0000460276" "1" "90" "11" "22247539" "22247543" "del" "0" "00430" "ANO5_000142" "g.22247539_22247543del" "" "{PMID:Nallamilli 2018:30564623}" "" "304_308delAAAGA" "" "Germline" "" "" "0" "" "" "g.22225993_22225997del" "" "pathogenic" "" "0000460277" "1" "90" "11" "22271893" "22271893" "dup" "0" "00430" "ANO5_000169" "g.22271893dup" "" "{PMID:Nallamilli 2018:30564623}" "" "989dupT" "" "Germline" "" "" "0" "" "" "g.22250347dup" "" "pathogenic" "" "0000460278" "3" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00430" "ANO5_000006" "g.22296151C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000460279" "1" "50" "11" "22283849" "22283849" "subst" "4.07126E-6" "00430" "ANO5_000201" "g.22283849G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22262303G>A" "" "VUS" "" "0000460280" "1" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00430" "ANO5_000039" "g.22239825C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000460281" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460282" "1" "50" "11" "22272315" "22272315" "subst" "2.03457E-5" "00430" "ANO5_000171" "g.22272315G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22250769G>A" "" "VUS" "" "0000460283" "1" "50" "11" "22301090" "22301090" "subst" "4.5013E-5" "00430" "ANO5_000122" "g.22301090C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22279544C>G" "" "VUS" "" "0000460284" "1" "90" "11" "22225349" "22225349" "subst" "1.25104E-5" "00430" "ANO5_000044" "g.22225349G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22203803G>A" "" "pathogenic" "" "0000460285" "1" "50" "11" "22294441" "22294441" "subst" "0.000873238" "00430" "ANO5_000060" "g.22294441C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22272895C>G" "" "VUS" "" "0000460286" "1" "90" "11" "22283777" "22283777" "subst" "0.000211358" "00430" "ANO5_000031" "g.22283777T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22262231T>C" "" "pathogenic" "" "0000460287" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460288" "1" "50" "11" "22249137" "22249137" "subst" "0" "00430" "ANO5_000150" "g.22249137G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22227591G>C" "" "VUS" "" "0000460289" "1" "50" "11" "22297728" "22297730" "del" "0" "00430" "ANO5_000220" "g.22297728_22297730del" "" "{PMID:Nallamilli 2018:30564623}" "" "2503_2505delTTC" "" "Germline" "" "" "0" "" "" "g.22276182_22276184del" "" "VUS" "" "0000460290" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460291" "1" "50" "11" "22297642" "22297642" "subst" "1.22309E-5" "00430" "ANO5_000073" "g.22297642A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22276096A>G" "" "VUS" "" "0000460292" "1" "50" "11" "22283780" "22283780" "subst" "0" "00430" "ANO5_000199" "g.22283780A>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22262234A>T" "" "VUS" "" "0000460293" "1" "50" "11" "22297642" "22297642" "subst" "1.22309E-5" "00430" "ANO5_000073" "g.22297642A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22276096A>G" "" "VUS" "" "0000460294" "1" "50" "11" "22276939" "22276939" "subst" "4.10951E-6" "00430" "ANO5_000038" "g.22276939G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22255393G>T" "" "VUS" "" "0000460295" "1" "90" "11" "22277031" "22277031" "subst" "2.85276E-5" "00430" "ANO5_000003" "g.22277031C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22255485C>G" "" "pathogenic" "" "0000460296" "1" "50" "11" "22281220" "22281220" "subst" "4.06646E-5" "00430" "ANO5_000188" "g.22281220G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22259674G>T" "" "VUS" "" "0000460297" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460298" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000460299" "1" "50" "11" "22301267" "22301267" "subst" "0.0012538" "00430" "ANO5_000124" "g.22301267A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22279721A>C" "" "VUS" "" "0000460300" "1" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00430" "ANO5_000033" "g.22284590G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic" "" "0000460301" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000460302" "1" "50" "11" "22294441" "22294441" "subst" "0.000873238" "00430" "ANO5_000060" "g.22294441C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22272895C>G" "" "VUS" "" "0000460303" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460304" "1" "50" "11" "22272519" "22272519" "subst" "0" "00430" "ANO5_000176" "g.22272519A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22250973A>G" "" "VUS" "" "0000460305" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460306" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous; consistent with diagnosis LGMD" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460307" "1" "50" "11" "22301267" "22301267" "subst" "0.0012538" "00430" "ANO5_000124" "g.22301267A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22279721A>C" "" "VUS" "" "0000460308" "1" "50" "11" "22257749" "22257749" "subst" "8.54499E-5" "00430" "ANO5_000154" "g.22257749A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22236203A>G" "" "VUS" "" "0000460309" "1" "50" "11" "22301267" "22301267" "subst" "0.0012538" "00430" "ANO5_000124" "g.22301267A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22279721A>C" "" "VUS" "" "0000460310" "1" "90" "11" "22276946" "22276946" "subst" "4.10277E-6" "00430" "ANO5_000046" "g.22276946C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "reported in individuals w/ LGMD" "Germline" "" "" "0" "" "" "g.22255400C>T" "" "pathogenic" "" "0000460311" "1" "90" "11" "22283777" "22283777" "subst" "0.000211358" "00430" "ANO5_000031" "g.22283777T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "reported in individuals w/ muscular dystrophy" "Germline" "" "" "0" "" "" "g.22262231T>C" "" "pathogenic" "" "0000460312" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460313" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00430" "ANO5_000006" "g.22296151C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000460314" "1" "50" "11" "22239808" "22239808" "subst" "0.00213491" "00430" "ANO5_000048" "g.22239808A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22218262A>G" "" "VUS" "" "0000460315" "1" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00430" "ANO5_000033" "g.22284590G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic" "" "0000460316" "1" "50" "11" "22247602" "22247602" "subst" "0" "00430" "ANO5_000028" "g.22247602A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22226056A>G" "" "VUS" "" "0000460317" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460318" "1" "50" "11" "22261197" "22261197" "subst" "1.6261E-5" "00430" "ANO5_000161" "g.22261197A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22239651A>G" "" "VUS" "" "0000460319" "1" "50" "11" "22279280" "22279280" "subst" "5.69536E-5" "00430" "ANO5_000183" "g.22279280G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22257734G>A" "" "VUS" "" "0000460320" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460321" "3" "50" "11" "22239825" "22239825" "subst" "9.76173E-5" "00430" "ANO5_000039" "g.22239825C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "variant apparently homozygous; no second variant" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "VUS" "" "0000460322" "1" "50" "11" "22301267" "22301267" "subst" "0.0012538" "00430" "ANO5_000124" "g.22301267A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22279721A>C" "" "VUS" "" "0000460323" "1" "50" "11" "22279260" "22279260" "subst" "8.13167E-6" "00430" "ANO5_000182" "g.22279260T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22257714T>A" "" "VUS" "" "0000460324" "3" "50" "11" "22271783" "22271783" "subst" "0" "00430" "ANO5_000163" "g.22271783G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22250237G>T" "" "VUS" "" "0000460325" "3" "50" "11" "22271784" "22271784" "subst" "0" "00430" "ANO5_000164" "g.22271784A>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22250238A>T" "" "VUS" "" "0000460326" "3" "90" "11" "22271793" "22271793" "subst" "0" "00430" "ANO5_000165" "g.22271793G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22250247G>T" "" "pathogenic" "" "0000460327" "1" "70" "11" "22242704" "22242704" "subst" "0.000151007" "00430" "ANO5_000056" "g.22242704A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22221158A>G" "" "likely pathogenic" "" "0000460328" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460329" "1" "50" "11" "22281086" "22281086" "subst" "0" "00430" "ANO5_000184" "g.22281086A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22259540A>G" "" "VUS" "" "0000460330" "1" "50" "11" "22272542" "22272542" "subst" "4.09313E-6" "00430" "ANO5_000126" "g.22272542T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22250996T>C" "" "VUS" "" "0000460331" "1" "90" "11" "22276949" "22276949" "subst" "1.2296E-5" "00430" "ANO5_000179" "g.22276949C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22255403C>T" "" "pathogenic" "" "0000460332" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460333" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460334" "1" "50" "11" "22257809" "22257809" "subst" "2.03518E-5" "00430" "ANO5_000155" "g.22257809A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22236263A>G" "" "VUS" "" "0000460335" "1" "50" "11" "22291916" "22291916" "subst" "4.06138E-6" "00430" "ANO5_000205" "g.22291916A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22270370A>G" "" "VUS" "" "0000460336" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000460337" "1" "90" "11" "22283663" "22283673" "del" "0" "00430" "ANO5_000190" "g.22283663_22283673del" "" "{PMID:Nallamilli 2018:30564623}" "" "1631-12_1631-2del11" "" "Germline" "" "" "0" "" "" "g.22262117_22262127del" "" "pathogenic" "" "0000460338" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000460339" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460340" "1" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00430" "ANO5_000039" "g.22239825C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000460341" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460342" "1" "90" "11" "22239791" "22239791" "del" "0" "00430" "ANO5_000134" "g.22239791del" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22218245del" "" "pathogenic" "" "0000460343" "1" "50" "11" "22294441" "22294441" "subst" "0.000873238" "00430" "ANO5_000060" "g.22294441C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22272895C>G" "" "VUS" "" "0000460344" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460345" "1" "70" "11" "22242704" "22242704" "subst" "0.000151007" "00430" "ANO5_000056" "g.22242704A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22221158A>G" "" "likely pathogenic" "" "0000460346" "1" "90" "11" "22271893" "22271893" "dup" "0" "00430" "ANO5_000169" "g.22271893dup" "" "{PMID:Nallamilli 2018:30564623}" "" "989dupT" "" "Germline" "" "" "0" "" "" "g.22250347dup" "" "pathogenic" "" "0000460347" "1" "50" "11" "22248966" "22248966" "subst" "0" "00430" "ANO5_000148" "g.22248966C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22227420C>T" "" "VUS" "" "0000460348" "1" "90" "11" "22271893" "22271893" "dup" "0" "00430" "ANO5_000169" "g.22271893dup" "" "{PMID:Nallamilli 2018:30564623}" "" "989dupT" "" "Germline" "" "" "0" "" "" "g.22250347dup" "" "pathogenic" "" "0000460349" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460350" "1" "70" "11" "22242704" "22242704" "subst" "0.000151007" "00430" "ANO5_000056" "g.22242704A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22221158A>G" "" "likely pathogenic" "" "0000460351" "1" "50" "11" "22294327" "22294327" "subst" "0" "00430" "ANO5_000206" "g.22294327C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22272781C>G" "" "VUS" "" "0000460352" "1" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00430" "ANO5_000033" "g.22284590G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic" "" "0000460353" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460354" "1" "90" "11" "22281284" "22281284" "dup" "0" "00430" "ANO5_000189" "g.22281284dup" "" "{PMID:Nallamilli 2018:30564623}" "" "1627dupA" "" "Germline" "" "" "0" "" "" "g.22259738dup" "" "pathogenic" "" "0000460355" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460356" "1" "50" "11" "22271776" "22271777" "del" "0" "00430" "ANO5_000162" "g.22271776_22271777del" "" "{PMID:Nallamilli 2018:30564623}" "" "879-7_879-6delTT" "" "Germline" "" "" "0" "" "" "g.22250230_22250231del" "" "VUS" "" "0000460357" "1" "50" "11" "22242741" "22242741" "subst" "0.000220734" "00430" "ANO5_000141" "g.22242741C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22221195C>T" "" "VUS" "" "0000460358" "1" "50" "11" "22242756" "22242756" "subst" "0.000709016" "00430" "ANO5_000086" "g.22242756G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22221210G>A" "" "VUS" "" "0000460359" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000460360" "1" "70" "11" "22242704" "22242704" "subst" "0.000151007" "00430" "ANO5_000056" "g.22242704A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22221158A>G" "" "likely pathogenic" "" "0000460361" "1" "90" "11" "22297723" "22297723" "subst" "0.000118116" "00430" "ANO5_000034" "g.22297723T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22276177T>A" "" "pathogenic" "" "0000460362" "1" "50" "11" "22272304" "22272304" "subst" "0.000325523" "00430" "ANO5_000170" "g.22272304C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22250758C>G" "" "VUS" "" "0000460363" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460364" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460365" "1" "70" "11" "22301090" "22301090" "subst" "4.5013E-5" "00430" "ANO5_000122" "g.22301090C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22279544C>G" "" "likely pathogenic" "" "0000460366" "1" "90" "11" "22225349" "22225349" "subst" "1.25104E-5" "00430" "ANO5_000044" "g.22225349G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22203803G>A" "" "pathogenic" "" "0000460367" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460368" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460369" "1" "90" "11" "22247539" "22247543" "del" "0" "00430" "ANO5_000142" "g.22247539_22247543del" "" "{PMID:Nallamilli 2018:30564623}" "" "304_308delAAAGA" "" "Germline" "" "" "0" "" "" "g.22225993_22225997del" "" "pathogenic" "" "0000460370" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460371" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00430" "ANO5_000006" "g.22296151C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000460372" "1" "50" "11" "22276947" "22276947" "subst" "2.46039E-5" "00430" "ANO5_000178" "g.22276947G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22255401G>A" "" "VUS" "" "0000460373" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460374" "1" "90" "11" "22276949" "22276949" "subst" "1.2296E-5" "00430" "ANO5_000179" "g.22276949C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22255403C>T" "" "pathogenic" "" "0000460375" "1" "50" "11" "22283672" "22283672" "subst" "0" "00430" "ANO5_000055" "g.22283672C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22262126C>G" "" "VUS" "" "0000460376" "1" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00430" "ANO5_000033" "g.22284590G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic" "" "0000460377" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460378" "1" "50" "11" "22257749" "22257749" "subst" "8.54499E-5" "00430" "ANO5_000154" "g.22257749A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22236203A>G" "" "VUS" "" "0000460379" "1" "50" "11" "22296262" "22296262" "subst" "0" "00430" "ANO5_000215" "g.22296262C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22274716C>A" "" "VUS" "" "0000460380" "1" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00430" "ANO5_000033" "g.22284590G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic" "" "0000460381" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460382" "1" "50" "11" "22283729" "22283729" "subst" "0" "00430" "ANO5_000195" "g.22283729T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22262183T>C" "" "VUS" "" "0000460383" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460384" "1" "50" "11" "22281220" "22281220" "subst" "4.06646E-5" "00430" "ANO5_000188" "g.22281220G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22259674G>T" "" "VUS" "" "0000460385" "1" "50" "11" "22281220" "22281220" "subst" "4.06646E-5" "00430" "ANO5_000188" "g.22281220G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22259674G>T" "" "VUS" "" "0000460386" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460387" "1" "50" "11" "22294441" "22294441" "subst" "0.000873238" "00430" "ANO5_000060" "g.22294441C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22272895C>G" "" "VUS" "" "0000460388" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460389" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460390" "1" "50" "11" "22242685" "22242685" "subst" "0" "00430" "ANO5_000140" "g.22242685G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22221139G>C" "" "VUS" "" "0000460391" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460392" "1" "70" "11" "22242704" "22242704" "subst" "0.000151007" "00430" "ANO5_000056" "g.22242704A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22221158A>G" "" "likely pathogenic" "" "0000460393" "1" "50" "11" "22294539" "22294539" "subst" "0.000251858" "00430" "ANO5_000212" "g.22294539A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22272993A>C" "" "VUS" "" "0000460394" "1" "50" "11" "22257713" "22257713" "subst" "3.26004E-5" "00430" "ANO5_000151" "g.22257713A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22236167A>G" "" "VUS" "" "0000460395" "1" "50" "11" "22294441" "22294441" "subst" "0.000873238" "00430" "ANO5_000060" "g.22294441C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22272895C>G" "" "VUS" "" "0000460396" "1" "50" "11" "22297671" "22297671" "subst" "1.62894E-5" "00430" "ANO5_000218" "g.22297671G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22276125G>A" "" "VUS" "" "0000460397" "1" "50" "11" "22242679" "22242679" "subst" "1.22517E-5" "00430" "ANO5_000139" "g.22242679T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22221133T>C" "" "VUS" "" "0000460398" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460399" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000460400" "1" "50" "11" "22242685" "22242685" "subst" "0" "00430" "ANO5_000140" "g.22242685G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22221139G>C" "" "VUS" "" "0000460401" "1" "90" "11" "22291963" "22291963" "del" "0" "00430" "ANO5_000042" "g.22291963del" "" "{PMID:Nallamilli 2018:30564623}" "" "2004delG" "no second variant" "Germline" "" "" "0" "" "" "g.22270417del" "" "pathogenic" "" "0000460402" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460403" "1" "90" "11" "22276946" "22276946" "subst" "4.10277E-6" "00430" "ANO5_000046" "g.22276946C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22255400C>T" "" "pathogenic" "" "0000460404" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000460405" "1" "50" "11" "22294425" "22294425" "subst" "0" "00430" "ANO5_000209" "g.22294425G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22272879G>T" "" "VUS" "" "0000460406" "1" "50" "11" "22232852" "22232852" "subst" "0" "00430" "ANO5_000133" "g.22232852G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22211306G>A" "" "VUS" "" "0000460407" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00430" "ANO5_000006" "g.22296151C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000460408" "1" "50" "11" "22297659" "22297659" "subst" "0" "00430" "ANO5_000217" "g.22297659C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22276113C>A" "" "VUS" "" "0000460409" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000460410" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460411" "1" "70" "11" "22301090" "22301090" "subst" "4.5013E-5" "00430" "ANO5_000122" "g.22301090C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22279544C>G" "" "likely pathogenic" "" "0000460412" "1" "50" "11" "22294339" "22294339" "subst" "4.06279E-6" "00430" "ANO5_000207" "g.22294339T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22272793T>C" "" "VUS" "" "0000460413" "1" "50" "11" "22239792" "22239792" "subst" "1.22009E-5" "00430" "ANO5_000135" "g.22239792C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22218246C>T" "" "VUS" "" "0000460414" "1" "50" "11" "22283668" "22283672" "del" "0" "00430" "ANO5_000191" "g.22283668_22283672del" "" "{PMID:Nallamilli 2018:30564623}" "" "1631-7_1631-7delTTAAC" "" "Germline" "" "" "0" "" "" "g.22262122_22262126del" "" "VUS" "" "0000460415" "1" "70" "11" "22242704" "22242704" "subst" "0.000151007" "00430" "ANO5_000056" "g.22242704A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22221158A>G" "" "likely pathogenic" "" "0000460416" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460417" "1" "50" "11" "22301192" "22301192" "subst" "4.06818E-6" "00430" "ANO5_000225" "g.22301192A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22279646A>C" "" "VUS" "" "0000460418" "1" "50" "11" "22301180" "22301180" "subst" "2.84784E-5" "00430" "ANO5_000224" "g.22301180A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22279634A>C" "" "VUS" "" "0000460419" "1" "90" "11" "22281284" "22281284" "dup" "0" "00430" "ANO5_000189" "g.22281284dup" "" "{PMID:Nallamilli 2018:30564623}" "" "1627dupA" "" "Germline" "" "" "0" "" "" "g.22259738dup" "" "pathogenic" "" "0000460420" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00430" "ANO5_000006" "g.22296151C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000460421" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460422" "1" "50" "11" "22257809" "22257809" "subst" "2.03518E-5" "00430" "ANO5_000155" "g.22257809A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22236263A>G" "" "VUS" "" "0000460423" "1" "90" "11" "22283777" "22283777" "subst" "0.000211358" "00430" "ANO5_000031" "g.22283777T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22262231T>C" "" "pathogenic" "" "0000460424" "1" "50" "11" "22283721" "22283721" "subst" "0" "00430" "ANO5_000194" "g.22283721A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22262175A>C" "" "VUS" "" "0000460425" "1" "50" "11" "22294441" "22294441" "subst" "0.000873238" "00430" "ANO5_000060" "g.22294441C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22272895C>G" "" "VUS" "" "0000460426" "1" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00430" "ANO5_000039" "g.22239825C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000460427" "1" "50" "11" "22283804" "22283804" "subst" "7.72439E-5" "00430" "ANO5_000200" "g.22283804G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22262258G>A" "" "VUS" "" "0000460428" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460429" "1" "70" "11" "22242704" "22242704" "subst" "0.000151007" "00430" "ANO5_000056" "g.22242704A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22221158A>G" "" "likely pathogenic" "" "0000460430" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460431" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00430" "ANO5_000006" "g.22296151C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000460432" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460433" "1" "50" "11" "22283767" "22283767" "subst" "2.03247E-5" "00430" "ANO5_000198" "g.22283767G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22262221G>A" "" "VUS" "" "0000460434" "1" "50" "11" "22301265" "22301265" "subst" "4.0707E-6" "00430" "ANO5_000226" "g.22301265T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22279719T>C" "" "VUS" "" "0000460435" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460436" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460437" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460438" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460439" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460440" "1" "90" "11" "22232830" "22232831" "del" "0" "00430" "ANO5_000132" "g.22232830_22232831del" "" "{PMID:Nallamilli 2018:30564623}" "" "108_109delGA" "" "Germline" "" "" "0" "" "" "g.22211284_22211285del" "" "pathogenic" "" "0000460441" "1" "90" "11" "22283683" "22283683" "subst" "4.07219E-6" "00430" "ANO5_000192" "g.22283683C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22262137C>T" "" "pathogenic" "" "0000460442" "1" "50" "11" "22281195" "22281195" "subst" "0" "00430" "ANO5_000043" "g.22281195C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22259649C>T" "" "VUS" "" "0000460443" "1" "90" "11" "22257823" "22257823" "subst" "1.2221E-5" "00430" "ANO5_000156" "g.22257823G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22236277G>A" "" "pathogenic" "" "0000460444" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460445" "1" "50" "11" "22301267" "22301267" "subst" "0.0012538" "00430" "ANO5_000124" "g.22301267A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22279721A>C" "" "VUS" "" "0000460446" "1" "50" "11" "22294441" "22294441" "subst" "0.000873238" "00430" "ANO5_000060" "g.22294441C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "5141C>G" "" "Germline" "" "" "0" "" "" "g.22272895C>G" "" "VUS" "" "0000460447" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000460448" "1" "50" "11" "22239792" "22239792" "subst" "1.22009E-5" "00430" "ANO5_000135" "g.22239792C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22218246C>T" "" "VUS" "" "0000460449" "1" "50" "11" "22296296" "22296296" "subst" "8.14306E-5" "00430" "ANO5_000216" "g.22296296G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22274750G>A" "" "VUS" "" "0000460450" "1" "50" "11" "22257716" "22257716" "subst" "0" "00430" "ANO5_000152" "g.22257716A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22236170A>G" "" "VUS" "" "0000460451" "1" "50" "11" "22301267" "22301267" "subst" "0.0012538" "00430" "ANO5_000124" "g.22301267A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22279721A>C" "" "VUS" "" "0000460452" "1" "50" "11" "22281107" "22281107" "subst" "2.43764E-5" "00430" "ANO5_000104" "g.22281107C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22259561C>T" "" "VUS" "" "0000460453" "1" "50" "11" "22294441" "22294441" "subst" "0.000873238" "00430" "ANO5_000060" "g.22294441C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22272895C>G" "" "VUS" "" "0000460454" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460455" "1" "50" "11" "22283736" "22283736" "subst" "0" "00430" "ANO5_000197" "g.22283736G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22262190G>C" "" "VUS" "" "0000460456" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460457" "1" "90" "11" "22297695" "22297695" "del" "8.14352E-6" "00430" "ANO5_000219" "g.22297695del" "" "{PMID:Nallamilli 2018:30564623}" "" "2470delC" "" "Germline" "" "" "0" "" "" "g.22276149del" "" "pathogenic" "" "0000460458" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460459" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460460" "1" "50" "11" "22283684" "22283684" "subst" "0.000146549" "00430" "ANO5_000193" "g.22283684G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22262138G>A" "" "VUS" "" "0000460461" "1" "50" "11" "22301179" "22301179" "subst" "8.13663E-6" "00430" "ANO5_000223" "g.22301179A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22279633A>G" "" "VUS" "" "0000460462" "1" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00430" "ANO5_000033" "g.22284590G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic" "" "0000460463" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460464" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460465" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00430" "ANO5_000006" "g.22296151C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000460466" "1" "50" "11" "22284571" "22284571" "subst" "8.13266E-6" "00430" "ANO5_000202" "g.22284571T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22263025T>C" "" "VUS" "" "0000460467" "1" "50" "11" "22257749" "22257749" "subst" "8.54499E-5" "00430" "ANO5_000154" "g.22257749A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22236203A>G" "" "VUS" "" "0000460468" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000460469" "1" "50" "11" "22281152" "22281152" "subst" "0" "00430" "ANO5_000186" "g.22281152G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22259606G>A" "" "VUS" "" "0000460470" "1" "50" "11" "22294441" "22294441" "subst" "0.000873238" "00430" "ANO5_000060" "g.22294441C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22272895C>G" "" "VUS" "" "0000460471" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000460472" "1" "90" "11" "22281284" "22281284" "dup" "0" "00430" "ANO5_000189" "g.22281284dup" "" "{PMID:Nallamilli 2018:30564623}" "" "1627dupA" "" "Germline" "" "" "0" "" "" "g.22259738dup" "" "pathogenic" "" "0000460473" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460474" "1" "50" "11" "22271803" "22271803" "subst" "0" "00430" "ANO5_000166" "g.22271803T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22250257T>A" "" "VUS" "" "0000460475" "1" "50" "11" "22283735" "22283735" "subst" "0" "00430" "ANO5_000196" "g.22283735A>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22262189A>T" "" "VUS" "" "0000460476" "1" "50" "11" "22239823" "22239823" "subst" "1.22022E-5" "00430" "ANO5_000137" "g.22239823G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22218277G>A" "" "VUS" "" "0000460477" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460478" "1" "50" "11" "22277001" "22277001" "subst" "0" "00430" "ANO5_000181" "g.22277001A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22255455A>C" "" "VUS" "" "0000460479" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460480" "1" "50" "11" "22239802" "22239802" "subst" "6.50682E-5" "00430" "ANO5_000136" "g.22239802G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22218256G>A" "" "VUS" "" "0000460481" "1" "50" "11" "22294441" "22294441" "subst" "0.000873238" "00430" "ANO5_000060" "g.22294441C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22272895C>G" "" "VUS" "" "0000460482" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460483" "1" "50" "11" "22281173" "22281173" "subst" "0.000101607" "00430" "ANO5_000187" "g.22281173A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22259627A>G" "" "VUS" "" "0000460484" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous; no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460485" "1" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00430" "ANO5_000033" "g.22284590G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic" "" "0000460486" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460487" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460488" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460489" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460490" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000460491" "1" "50" "11" "22249037" "22249037" "subst" "0.000199628" "00430" "ANO5_000092" "g.22249037G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22227491G>C" "" "VUS" "" "0000460492" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460493" "1" "50" "11" "22301294" "22301294" "subst" "4.08143E-6" "00430" "ANO5_000227" "g.22301294G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22279748G>A" "" "VUS" "" "0000460494" "1" "50" "11" "22291893" "22291893" "subst" "1.21849E-5" "00430" "ANO5_000204" "g.22291893G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22270347G>A" "" "VUS" "" "0000460495" "1" "90" "11" "22296224" "22296224" "subst" "8.12783E-6" "00430" "ANO5_000213" "g.22296224C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22274678C>G" "" "pathogenic" "" "0000460496" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000460497" "1" "90" "11" "22283777" "22283777" "subst" "0.000211358" "00430" "ANO5_000031" "g.22283777T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22262231T>C" "" "pathogenic" "" "0000460498" "3" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00430" "ANO5_000039" "g.22239825C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "" "0000460499" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460500" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00430" "ANO5_000006" "g.22296151C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000460501" "1" "90" "11" "22276943" "22276943" "subst" "0" "00430" "ANO5_000177" "g.22276943C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22255397C>T" "" "pathogenic" "" "0000460502" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460503" "1" "50" "11" "22281220" "22281220" "subst" "4.06646E-5" "00430" "ANO5_000188" "g.22281220G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22259674G>T" "" "VUS" "" "0000460504" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460505" "3" "90" "11" "22291963" "22291963" "del" "0" "00430" "ANO5_000042" "g.22291963del" "" "{PMID:Nallamilli 2018:30564623}" "" "2004delG" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22270417del" "" "pathogenic" "" "0000460506" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous; no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460507" "1" "50" "11" "22248963" "22248963" "subst" "6.10829E-5" "00430" "ANO5_000147" "g.22248963G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22227417G>A" "" "VUS" "" "0000460508" "1" "50" "11" "22281125" "22281125" "subst" "1.21886E-5" "00430" "ANO5_000185" "g.22281125A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22259579A>G" "" "VUS" "" "0000460509" "1" "50" "11" "22283708" "22283708" "subst" "8.5361E-5" "00430" "ANO5_000071" "g.22283708G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22262162G>T" "" "VUS" "" "0000460510" "1" "50" "11" "22291977" "22291977" "subst" "0" "00430" "ANO5_000029" "g.22291977A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22270431A>G" "" "VUS" "" "0000460511" "1" "50" "11" "22296227" "22296227" "subst" "0" "00430" "ANO5_000214" "g.22296227T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22274681T>C" "" "VUS" "" "0000460512" "1" "50" "11" "22297741" "22297741" "subst" "1.63074E-5" "00430" "ANO5_000221" "g.22297741T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22276195T>C" "" "VUS" "" "0000460513" "1" "50" "11" "22284579" "22284579" "subst" "1.62715E-5" "00430" "ANO5_000203" "g.22284579G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22263033G>A" "" "VUS" "" "0000460514" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460515" "1" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "no second variant" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460516" "3" "90" "11" "22297723" "22297723" "subst" "0.000118116" "00430" "ANO5_000034" "g.22297723T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22276177T>A" "" "pathogenic" "" "0000460517" "1" "90" "11" "22257823" "22257823" "subst" "1.2221E-5" "00430" "ANO5_000156" "g.22257823G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22236277G>A" "" "pathogenic" "" "0000460518" "1" "50" "11" "22261169" "22261169" "subst" "2.43948E-5" "00430" "ANO5_000160" "g.22261169C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22239623C>T" "" "VUS" "" "0000460519" "1" "50" "11" "22261149" "22261149" "subst" "2.43926E-5" "00430" "ANO5_000157" "g.22261149C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22239603C>T" "" "VUS" "" "0000460520" "1" "50" "11" "22261149" "22261149" "subst" "2.43926E-5" "00430" "ANO5_000157" "g.22261149C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22239603C>T" "" "VUS" "" "0000460521" "1" "50" "11" "22261149" "22261149" "subst" "2.43926E-5" "00430" "ANO5_000157" "g.22261149C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22239603C>T" "" "VUS" "" "0000460522" "1" "90" "11" "22239791" "22239791" "del" "0" "00430" "ANO5_000134" "g.22239791del" "" "{PMID:Nallamilli 2018:30564623}" "" "139-1delG" "no second variant" "Germline" "" "" "0" "" "" "g.22218245del" "" "pathogenic" "" "0000460523" "1" "50" "11" "22261167" "22261167" "subst" "4.0656E-6" "00430" "ANO5_000159" "g.22261167C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.22239621C>G" "" "VUS" "" "0000460524" "3" "90" "11" "22281284" "22281284" "dup" "0" "00430" "ANO5_000189" "g.22281284dup" "" "{PMID:Nallamilli 2018:30564623}" "" "1627dupA" "variant apparently homozygous; no second variant" "Germline" "" "" "0" "" "" "g.22259738dup" "" "pathogenic" "" "0000460525" "1" "50" "11" "22294441" "22294441" "subst" "0.000873238" "00430" "ANO5_000060" "g.22294441C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22272895C>G" "" "VUS" "" "0000460526" "3" "90" "11" "22242653" "22242653" "dup" "0" "00430" "ANO5_000084" "g.22242653dup" "" "{PMID:Nallamilli 2018:30564623}" "" "191dupA" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic" "" "0000460527" "1" "50" "11" "22248869" "22248869" "subst" "4.07259E-6" "00430" "ANO5_000144" "g.22248869T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22227323T>C" "" "VUS" "" "0000460528" "1" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00430" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "" "0000460529" "1" "50" "11" "22271859" "22271859" "subst" "0" "00430" "ANO5_000168" "g.22271859G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22250313G>A" "" "VUS" "" "0000460530" "1" "50" "11" "22248899" "22248899" "subst" "1.22074E-5" "00430" "ANO5_000145" "g.22248899G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.22227353G>T" "" "VUS" "" "0000470454" "1" "90" "11" "22239826" "22239826" "subst" "2.8471E-5" "00399" "ANO5_000228" "g.22239826G>A" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22218280G>A" "" "pathogenic (recessive)" "" "0000470455" "1" "90" "11" "22248852" "22248852" "subst" "2.04073E-5" "00399" "ANO5_000229" "g.22248852C>T" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22227306C>T" "" "pathogenic (recessive)" "" "0000470456" "1" "90" "11" "22294470" "22294470" "subst" "4.06128E-6" "00399" "ANO5_000234" "g.22294470G>C" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22272924G>C" "" "pathogenic (recessive)" "" "0000470457" "1" "90" "11" "22248852" "22248852" "subst" "2.04073E-5" "00399" "ANO5_000229" "g.22248852C>T" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22227306C>T" "" "pathogenic (recessive)" "" "0000470458" "1" "90" "11" "22272543" "22272543" "subst" "0" "00399" "ANO5_000230" "g.22272543T>C" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22250997T>C" "" "pathogenic (recessive)" "" "0000470459" "1" "90" "11" "22272543" "22272543" "subst" "0" "00399" "ANO5_000230" "g.22272543T>C" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22250997T>C" "" "pathogenic (recessive)" "" "0000470460" "1" "90" "11" "22284570" "22284571" "del" "0" "00399" "ANO5_000233" "g.22284570_22284571del" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22263024_22263025del" "" "pathogenic (recessive)" "" "0000470461" "1" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00399" "ANO5_000033" "g.22284590G>A" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic (recessive)" "" "0000470475" "2" "90" "11" "22283777" "22283777" "subst" "0.000211358" "00399" "ANO5_000031" "g.22283777T>C" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22262231T>C" "" "pathogenic (recessive)" "" "0000470476" "2" "90" "11" "22242653" "22242653" "dup" "0" "00399" "ANO5_000084" "g.22242653dup" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000470477" "2" "90" "11" "22242653" "22242653" "dup" "0" "00399" "ANO5_000084" "g.22242653dup" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000470478" "2" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00399" "ANO5_000006" "g.22296151C>T" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic (recessive)" "" "0000470479" "2" "90" "11" "22277003" "22277003" "subst" "4.07927E-6" "00399" "ANO5_000231" "g.22277003C>T" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22255457C>T" "" "pathogenic (recessive)" "" "0000470480" "2" "90" "11" "22277003" "22277003" "subst" "4.07927E-6" "00399" "ANO5_000231" "g.22277003C>T" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22255457C>T" "" "pathogenic (recessive)" "" "0000470481" "2" "90" "11" "22284492" "22284492" "subst" "0" "00399" "ANO5_000232" "g.22284492T>G" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22262946T>G" "" "pathogenic (recessive)" "" "0000470482" "2" "90" "11" "22301089" "22301089" "del" "4.094E-6" "00399" "ANO5_000222" "g.22301089del" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22279543del" "" "pathogenic (recessive)" "" "0000543502" "0" "10" "11" "22214903" "22214903" "subst" "0" "02327" "ANO5_000026" "g.22214903G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22193357G>C" "" "benign" "" "0000543505" "0" "90" "11" "22242653" "22242653" "dup" "0" "02330" "ANO5_000084" "g.22242653dup" "" "" "" "ANO5(NM_001142649.1):c.188dup (p.(Asn63Lysfs*15)), ANO5(NM_001142649.2):c.188dupA (p.N63Kfs*15), ANO5(NM_213599.2):c.191dupA (p.N64Kfs*15), ANO5(N...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22221107dup" "" "pathogenic" "" "0000543506" "0" "90" "11" "22242653" "22242653" "dup" "0" "01943" "ANO5_000084" "g.22242653dup" "" "" "" "ANO5(NM_001142649.1):c.188dup (p.(Asn63Lysfs*15)), ANO5(NM_001142649.2):c.188dupA (p.N63Kfs*15), ANO5(NM_213599.2):c.191dupA (p.N64Kfs*15), ANO5(N...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22221107dup" "" "pathogenic" "" "0000543507" "0" "90" "11" "22242653" "22242653" "dup" "0" "02326" "ANO5_000084" "g.22242653dup" "" "" "" "ANO5(NM_001142649.1):c.188dup (p.(Asn63Lysfs*15)), ANO5(NM_001142649.2):c.188dupA (p.N63Kfs*15), ANO5(NM_213599.2):c.191dupA (p.N64Kfs*15), ANO5(N...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22221107dup" "" "pathogenic" "" "0000543509" "0" "30" "11" "22242721" "22242721" "subst" "0.000845229" "01804" "ANO5_000236" "g.22242721G>A" "" "" "" "ANO5(NM_001142649.1):c.256G>A (p.(Val86Ile)), ANO5(NM_213599.2):c.259G>A (p.V87I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22221175G>A" "" "likely benign" "" "0000543510" "0" "10" "11" "22247522" "22247522" "dup" "0" "02330" "ANO5_000088" "g.22247522dup" "" "" "" "ANO5(NM_213599.3):c.295-8dup, ANO5(NM_213599.3):c.295-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22225976dup" "" "benign" "" "0000543511" "0" "90" "11" "22248847" "22248847" "subst" "0" "02327" "ANO5_000237" "g.22248847G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22227301G>A" "" "pathogenic" "" "0000543513" "0" "30" "11" "22248913" "22248913" "subst" "0" "01943" "ANO5_000239" "g.22248913T>C" "" "" "" "ANO5(NM_213599.2):c.429T>C (p.Y143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22227367T>C" "" "likely benign" "" "0000543514" "0" "50" "11" "22257734" "22257734" "subst" "4.07097E-5" "02325" "ANO5_000095" "g.22257734C>T" "" "" "" "ANO5(NM_213599.2):c.674C>T (p.(Pro225Leu)), ANO5(NM_213599.3):c.674C>T (p.P225L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22236188C>T" "" "VUS" "" "0000543515" "0" "30" "11" "22257740" "22257740" "subst" "0.00072859" "01804" "ANO5_000240" "g.22257740G>C" "" "" "" "ANO5(NM_001142649.1):c.677G>C (p.(Gly226Ala)), ANO5(NM_213599.2):c.680G>C (p.G227A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22236194G>C" "" "likely benign" "" "0000543516" "0" "70" "11" "22257752" "22257752" "subst" "0.000964497" "01943" "ANO5_000005" "g.22257752G>T" "" "" "" "ANO5(NM_001142649.1):c.689G>T (p.(Gly230Val)), ANO5(NM_213599.2):c.692G>T (p.G231V), ANO5(NM_213599.3):c.692G>T (p.G231V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22236206G>T" "" "likely pathogenic" "" "0000543517" "0" "90" "11" "22257752" "22257752" "subst" "0.000964497" "02329" "ANO5_000005" "g.22257752G>T" "" "" "" "ANO5(NM_001142649.1):c.689G>T (p.(Gly230Val)), ANO5(NM_213599.2):c.692G>T (p.G231V), ANO5(NM_213599.3):c.692G>T (p.G231V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22236206G>T" "" "pathogenic" "" "0000543519" "0" "90" "11" "22261187" "22261187" "subst" "0" "02325" "ANO5_000241" "g.22261187C>T" "" "" "" "ANO5(NM_213599.3):c.835C>T (p.R279*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22239641C>T" "" "pathogenic" "" "0000543520" "0" "30" "11" "22271870" "22271870" "subst" "2.85854E-5" "01943" "ANO5_000242" "g.22271870A>G" "" "" "" "ANO5(NM_213599.2):c.966A>G (p.L322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22250324A>G" "" "likely benign" "" "0000543521" "0" "10" "11" "22271870" "22271870" "subst" "0.480109" "02330" "ANO5_000018" "g.22271870A>T" "" "" "" "ANO5(NM_001142649.2):c.963A>T (p.L321F), ANO5(NM_213599.3):c.966A>T (p.L322F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22250324A>T" "" "benign" "" "0000543522" "0" "10" "11" "22271870" "22271870" "subst" "0.480109" "02325" "ANO5_000018" "g.22271870A>T" "" "" "" "ANO5(NM_001142649.2):c.963A>T (p.L321F), ANO5(NM_213599.3):c.966A>T (p.L322F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22250324A>T" "" "benign" "" "0000543523" "0" "10" "11" "22281202" "22281202" "subst" "0.00139036" "01943" "ANO5_000020" "g.22281202A>G" "" "" "" "ANO5(NM_001142649.1):c.1542A>G (p.(Ser514=)), ANO5(NM_213599.2):c.1545A>G (p.S515=), ANO5(NM_213599.3):c.1545A>G (p.S515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22259656A>G" "" "benign" "" "0000543524" "0" "30" "11" "22283733" "22283733" "subst" "4.06402E-6" "01943" "ANO5_000106" "g.22283733T>C" "" "" "" "ANO5(NM_213599.2):c.1689T>C (p.F563=), ANO5(NM_213599.3):c.1689T>C (p.F563=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22262187T>C" "" "likely benign" "" "0000543525" "0" "70" "11" "22283777" "22283777" "subst" "0.000211358" "02327" "ANO5_000031" "g.22283777T>C" "" "" "" "ANO5(NM_213599.2):c.1733T>C (p.F578S), ANO5(NM_213599.3):c.1733T>C (p.(Phe578Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22262231T>C" "" "likely pathogenic" "" "0000543526" "0" "50" "11" "22294441" "22294441" "subst" "0.000873238" "01804" "ANO5_000060" "g.22294441C>G" "" "" "" "ANO5(NM_001142649.1):c.2138C>G (p.(Thr713Ser)), ANO5(NM_213599.2):c.2141C>G (p.T714S), ANO5(NM_213599.3):c.2141C>G (p.T714S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22272895C>G" "" "VUS" "" "0000543527" "0" "50" "11" "22294441" "22294441" "subst" "0.000873238" "02327" "ANO5_000060" "g.22294441C>G" "" "" "" "ANO5(NM_001142649.1):c.2138C>G (p.(Thr713Ser)), ANO5(NM_213599.2):c.2141C>G (p.T714S), ANO5(NM_213599.3):c.2141C>G (p.T714S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22272895C>G" "" "VUS" "" "0000543528" "0" "30" "11" "22294543" "22294543" "subst" "8.12506E-6" "01943" "ANO5_000243" "g.22294543G>A" "" "" "" "ANO5(NM_213599.2):c.2235+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22272997G>A" "" "likely benign" "" "0000543529" "0" "10" "11" "22296105" "22296105" "dup" "0" "02330" "ANO5_000244" "g.22296105dup" "" "" "" "ANO5(NM_001142649.2):c.2233-10dupT, ANO5(NM_213599.2):c.2236-10dupT, ANO5(NM_213599.2):c.2236-17dup (p.(=)), ANO5(NM_213599.3):c.2236-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22274559dup" "" "benign" "" "0000543531" "0" "30" "11" "22296233" "22296233" "subst" "0.00106467" "01804" "ANO5_000245" "g.22296233T>G" "" "" "" "ANO5(NM_001142649.1):c.2351T>G (p.(Leu784Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22274687T>G" "" "likely benign" "" "0000543532" "0" "50" "11" "22296266" "22296266" "subst" "0.00871481" "02330" "ANO5_000053" "g.22296266C>T" "" "" "" "ANO5(NM_001142649.1):c.2384C>T (p.(Ser795Leu)), ANO5(NM_213599.2):c.2387C>T (p.S796L), ANO5(NM_213599.3):c.2387C>T (p.S796L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22274720C>T" "" "VUS" "" "0000543533" "0" "10" "11" "22296266" "22296266" "subst" "0.00871481" "02325" "ANO5_000053" "g.22296266C>T" "" "" "" "ANO5(NM_001142649.1):c.2384C>T (p.(Ser795Leu)), ANO5(NM_213599.2):c.2387C>T (p.S796L), ANO5(NM_213599.3):c.2387C>T (p.S796L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22274720C>T" "" "benign" "" "0000543534" "0" "30" "11" "22296266" "22296266" "subst" "0.00871481" "02326" "ANO5_000053" "g.22296266C>T" "" "" "" "ANO5(NM_001142649.1):c.2384C>T (p.(Ser795Leu)), ANO5(NM_213599.2):c.2387C>T (p.S796L), ANO5(NM_213599.3):c.2387C>T (p.S796L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22274720C>T" "" "likely benign" "" "0000543535" "0" "30" "11" "22296275" "22296275" "subst" "1.62655E-5" "01804" "ANO5_000246" "g.22296275G>A" "" "" "" "ANO5(NM_213599.2):c.2396G>A (p.R799Q, p.(Arg799Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22274729G>A" "" "likely benign" "" "0000543536" "0" "30" "11" "22297619" "22297621" "del" "4.40408E-5" "01804" "ANO5_000247" "g.22297619_22297621del" "" "" "" "ANO5(NM_001142649.1):c.2412-21_2412-19del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22276073_22276075del" "" "likely benign" "" "0000543538" "0" "50" "11" "22301267" "22301267" "subst" "0.0012538" "02330" "ANO5_000124" "g.22301267A>C" "" "" "" "ANO5(NM_001142649.1):c.2695A>C (p.(Met899Leu)), ANO5(NM_213599.2):c.2698A>C (p.M900L), ANO5(NM_213599.3):c.2698A>C (p.M900L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22279721A>C" "" "VUS" "" "0000543539" "0" "30" "11" "22301267" "22301267" "subst" "0.0012538" "01943" "ANO5_000124" "g.22301267A>C" "" "" "" "ANO5(NM_001142649.1):c.2695A>C (p.(Met899Leu)), ANO5(NM_213599.2):c.2698A>C (p.M900L), ANO5(NM_213599.3):c.2698A>C (p.M900L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22279721A>C" "" "likely benign" "" "0000543540" "0" "30" "11" "22301267" "22301267" "subst" "0.0012538" "02325" "ANO5_000124" "g.22301267A>C" "" "" "" "ANO5(NM_001142649.1):c.2695A>C (p.(Met899Leu)), ANO5(NM_213599.2):c.2698A>C (p.M900L), ANO5(NM_213599.3):c.2698A>C (p.M900L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22279721A>C" "" "likely benign" "" "0000543541" "0" "30" "11" "22301267" "22301267" "subst" "0.0012538" "02326" "ANO5_000124" "g.22301267A>C" "" "" "" "ANO5(NM_001142649.1):c.2695A>C (p.(Met899Leu)), ANO5(NM_213599.2):c.2698A>C (p.M900L), ANO5(NM_213599.3):c.2698A>C (p.M900L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22279721A>C" "" "likely benign" "" "0000597493" "3" "70" "11" "22239835" "22239835" "subst" "0" "00006" "ANO5_000249" "g.22239835T>C" "" "{PMID:Izumi 2015:27066573}, Izumi 2020 (submitted)" "" "" "" "Germline" "" "" "0" "" "" "g.22218289T>C" "" "likely pathogenic (recessive)" "" "0000597588" "3" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00006" "ANO5_000039" "g.22239825C>T" "" "{PMID:Monies 2016:27671536}" "" "NM_001142649:c.169C>T" "ACMG PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic" "ACMG" "0000598354" "0" "90" "11" "22242653" "22242653" "dup" "0" "01164" "ANO5_000084" "g.22242653dup" "" "" "" "" "ACMG grading: PVS1, PS3" "Germline" "" "rs575136178" "0" "" "" "g.22221107dup" "" "pathogenic" "ACMG" "0000598355" "0" "90" "11" "22284590" "22284590" "subst" "0.000118037" "01164" "ANO5_000033" "g.22284590G>A" "" "" "" "" "ACMG grading: PM3,PP3,PVS1,PS3; variant reported in Linssen 2013. Eur 20: 968; Wahbi 2013. Int J Cardiol 168: 76; Witting 2013. J Neurol 260: 2084" "Germline" "" "rs142027093" "0" "" "" "g.22263044G>A" "" "pathogenic" "ACMG" "0000613248" "0" "30" "11" "22225335" "22225338" "del" "0" "02326" "ANO5_000250" "g.22225335_22225338del" "" "" "" "ANO5(NM_213599.2):c.41-15_41-12delTCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22203789_22203792del" "" "likely benign" "" "0000613249" "0" "30" "11" "22232851" "22232851" "subst" "2.85498E-5" "01943" "ANO5_000081" "g.22232851A>G" "" "" "" "ANO5(NM_213599.2):c.129A>G (p.E43=), ANO5(NM_213599.3):c.129A>G (p.E43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22211305A>G" "" "likely benign" "" "0000613250" "0" "50" "11" "22239823" "22239823" "subst" "1.22022E-5" "02325" "ANO5_000137" "g.22239823G>A" "" "" "" "ANO5(NM_213599.3):c.170G>A (p.R57Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22218277G>A" "" "VUS" "" "0000613251" "0" "30" "11" "22249065" "22249065" "subst" "2.03749E-5" "01943" "ANO5_000251" "g.22249065A>G" "" "" "" "ANO5(NM_213599.2):c.581A>G (p.H194R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22227519A>G" "" "likely benign" "" "0000613252" "0" "50" "11" "22276947" "22276947" "subst" "2.46039E-5" "02325" "ANO5_000178" "g.22276947G>A" "" "" "" "ANO5(NM_213599.3):c.1211G>A (p.R404Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22255401G>A" "" "VUS" "" "0000613253" "0" "50" "11" "22279284" "22279284" "subst" "8.13656E-6" "01943" "ANO5_000252" "g.22279284C>A" "" "" "" "ANO5(NM_213599.2):c.1391C>A (p.A464D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22257738C>A" "" "VUS" "" "0000613254" "0" "30" "11" "22294441" "22294441" "subst" "0.000873238" "01943" "ANO5_000060" "g.22294441C>G" "" "" "" "ANO5(NM_001142649.1):c.2138C>G (p.(Thr713Ser)), ANO5(NM_213599.2):c.2141C>G (p.T714S), ANO5(NM_213599.3):c.2141C>G (p.T714S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22272895C>G" "" "likely benign" "" "0000613255" "0" "30" "11" "22296275" "22296275" "subst" "1.62655E-5" "01943" "ANO5_000246" "g.22296275G>A" "" "" "" "ANO5(NM_213599.2):c.2396G>A (p.R799Q, p.(Arg799Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22274729G>A" "" "likely benign" "" "0000613256" "0" "30" "11" "22301191" "22301191" "subst" "2.03434E-5" "01943" "ANO5_000123" "g.22301191G>A" "" "" "" "ANO5(NM_213599.2):c.2622G>A (p.K874=), ANO5(NM_213599.3):c.2622G>A (p.K874=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22279645G>A" "" "likely benign" "" "0000622614" "0" "10" "11" "22242729" "22242729" "subst" "0.766101" "02329" "ANO5_000007" "g.22242729T>C" "" "" "" "ANO5(NM_001142649.2):c.264T>C (p.D88=), ANO5(NM_213599.2):c.267T>C (p.D89=), ANO5(NM_213599.3):c.267T>C (p.D89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22221183T>C" "" "benign" "" "0000622615" "0" "10" "11" "22271870" "22271870" "subst" "0.480109" "02329" "ANO5_000018" "g.22271870A>T" "" "" "" "ANO5(NM_001142649.2):c.963A>T (p.L321F), ANO5(NM_213599.3):c.966A>T (p.L322F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22250324A>T" "" "benign" "" "0000622616" "0" "10" "11" "22296102" "22296105" "del" "0" "02329" "ANO5_000110" "g.22296102_22296105del" "" "" "" "ANO5(NM_001142649.1):c.2233-20_2233-17del (p.(=)), ANO5(NM_001142649.2):c.2233-13_2233-10delTTTT, ANO5(NM_213599.3):c.2236-13_2236-10delTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22274556_22274559del" "" "benign" "" "0000622617" "0" "50" "11" "22297671" "22297671" "subst" "1.62894E-5" "02325" "ANO5_000218" "g.22297671G>A" "" "" "" "ANO5(NM_213599.3):c.2446G>A (p.E816K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22276125G>A" "" "VUS" "" "0000629476" "3" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000084" "g.22242653dup" "" "{PMID:Reddy 2017:27708273}" "" "191dupA" "" "Germline" "" "rs137854521" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000629477" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000084" "g.22242653dup" "" "{PMID:Reddy 2017:27708273}" "" "191dupA" "" "Germline" "" "rs137854521" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000629478" "1" "90" "11" "22294540" "22294540" "subst" "0" "00006" "ANO5_000253" "g.22294540G>A" "" "{PMID:Reddy 2017:27708273}" "" "" "" "Germline" "" "" "0" "" "" "g.22272994G>A" "" "pathogenic (recessive)" "" "0000629479" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000084" "g.22242653dup" "" "{PMID:Reddy 2017:27708273}" "" "191dupA" "" "Germline" "" "rs137854521" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000629480" "1" "90" "11" "22261187" "22261187" "subst" "0" "00006" "ANO5_000241" "g.22261187C>T" "" "{PMID:Reddy 2017:27708273}" "" "" "" "Germline" "" "" "0" "" "" "g.22239641C>T" "" "pathogenic (recessive)" "" "0000646952" "3" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00006" "ANO5_000033" "g.22284590G>A" "" "{PMID:Evilä 2016:26627873}" "" "" "" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic (recessive)" "" "0000648201" "1" "50" "11" "22239808" "22239808" "subst" "0.00213491" "03575" "ANO5_000048" "g.22239808A>G" "6/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; {DB:CLININrs143777403}" "Germline" "" "rs143777403" "0" "" "" "g.22218262A>G" "" "VUS" "" "0000648202" "1" "70" "11" "22283777" "22283777" "subst" "0.000211358" "03575" "ANO5_000031" "g.22283777T>C" "6/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs137854526}" "Germline" "" "rs137854526" "0" "" "" "g.22262231T>C" "" "likely pathogenic" "" "0000648203" "1" "90" "11" "22284590" "22284590" "subst" "0.000118037" "03575" "ANO5_000033" "g.22284590G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs142027093}" "Germline" "" "rs142027093" "0" "" "" "g.22263044G>A" "" "pathogenic" "" "0000648204" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "03575" "ANO5_000006" "g.22296151C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs137854529}" "Germline" "" "rs137854529" "0" "" "" "g.22274605C>T" "" "pathogenic" "" "0000648205" "1" "30" "11" "22296266" "22296266" "subst" "0.00871481" "03575" "ANO5_000053" "g.22296266C>T" "31/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "31 heterozygous, no homozygous; {DB:CLININrs61910685}" "Germline" "" "rs61910685" "0" "" "" "g.22274720C>T" "" "likely benign" "" "0000648206" "1" "10" "11" "22301077" "22301077" "subst" "0.0292438" "03575" "ANO5_000047" "g.22301077A>G" "114/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "114 heterozygous; {DB:CLININrs76850415}" "Germline" "" "rs76850415" "0" "" "" "g.22279531A>G" "" "benign" "" "0000648207" "1" "50" "11" "22302241" "22302241" "subst" "0" "03575" "ANO5_000255" "g.22302241C>T" "17/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 heterozygous, no homozygous; {DB:CLININrs78428314}" "Germline" "" "rs78428314" "0" "" "" "g.22280695C>T" "" "VUS" "" "0000648208" "1" "50" "11" "22304466" "22304466" "subst" "0" "03575" "ANO5_000256" "g.22304466T>C" "17/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 heterozygous, no homozygous; {DB:CLININrs78929863}" "Germline" "" "rs78929863" "0" "" "" "g.22282920T>C" "" "VUS" "" "0000653242" "1" "30" "11" "22294475" "22294475" "subst" "4.06134E-6" "03575" "ANO5_000254" "g.22294475T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs797044667}" "Germline" "" "rs797044667" "0" "" "" "g.22272929T>C" "" "likely benign" "" "0000656759" "0" "50" "11" "22248947" "22248947" "subst" "8.14147E-6" "02325" "ANO5_000257" "g.22248947G>A" "" "" "" "ANO5(NM_213599.3):c.463G>A (p.E155K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22227401G>A" "" "VUS" "" "0000656760" "0" "30" "11" "22277040" "22277040" "subst" "0" "01943" "ANO5_000258" "g.22277040A>G" "" "" "" "ANO5(NM_213599.2):c.1304A>G (p.K435R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22255494A>G" "" "likely benign" "" "0000656761" "0" "50" "11" "22281107" "22281107" "subst" "2.43764E-5" "02327" "ANO5_000104" "g.22281107C>T" "" "" "" "ANO5(NM_213599.3):c.1450C>T (p.R484C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22259561C>T" "" "VUS" "" "0000656762" "0" "50" "11" "22291914" "22291914" "subst" "0" "02325" "ANO5_000259" "g.22291914A>G" "" "" "" "ANO5(NM_213599.3):c.1955A>G (p.Y652C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22270368A>G" "" "VUS" "" "0000665977" "0" "70" "11" "22281177" "22281177" "del" "0" "03678" "ANO5_000130" "g.22281177del" "" "" "" "1520delT" "" "Germline" "" "rs794727158" "0" "" "" "g.22259631del" "" "pathogenic (recessive)" "ACMG" "0000665978" "0" "70" "11" "22281284" "22281284" "dup" "0" "03678" "ANO5_000189" "g.22281284dup" "" "" "" "" "" "Germline" "" "rs281865480" "0" "" "" "g.22259738dup" "" "pathogenic (recessive)" "ACMG" "0000667408" "0" "50" "11" "22272334" "22272334" "subst" "0" "01807" "ANO5_000260" "g.22272334C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.22250788C>A" "" "VUS" "" "0000669117" "3" "10" "11" "22301077" "22301077" "subst" "0.0292438" "03575" "ANO5_000047" "g.22301077A>G" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs76850415}" "Germline" "" "rs76850415" "0" "" "" "g.22279531A>G" "" "benign" "" "0000670815" "11" "90" "11" "22239801" "22239801" "subst" "0" "00006" "ANO5_000052" "g.22239801C>T" "" "{PMID:Yu 2017:28403181}" "" "" "" "Germline" "" "" "0" "" "" "g.22218255C>T" "" "pathogenic (recessive)" "" "0000670897" "21" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00006" "ANO5_000033" "g.22284590G>A" "" "{PMID:Yu 2017:28403181}" "" "" "" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic (recessive)" "" "0000679145" "0" "30" "11" "22281173" "22281173" "subst" "0.000101607" "01943" "ANO5_000187" "g.22281173A>G" "" "" "" "ANO5(NM_213599.2):c.1516A>G (p.S506G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679146" "0" "50" "11" "22283791" "22283791" "subst" "9.75745E-5" "01804" "ANO5_000262" "g.22283791G>A" "" "" "" "ANO5(NM_001142649.1):c.1744G>A (p.(Val582Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679147" "0" "90" "11" "22294445" "22294445" "del" "0" "02325" "ANO5_000263" "g.22294445del" "" "" "" "ANO5(NM_213599.3):c.2145delA (p.Q715Hfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679148" "0" "90" "11" "22296151" "22296151" "subst" "0.000580051" "02325" "ANO5_000006" "g.22296151C>T" "" "" "" "ANO5(NM_213599.2):c.2272C>T (p.(Arg758Cys)), ANO5(NM_213599.3):c.2272C>T (p.R758C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679149" "0" "30" "11" "22301083" "22301083" "subst" "0.000278746" "01943" "ANO5_000264" "g.22301083C>T" "" "" "" "ANO5(NM_001142649.1):c.2518-7C>T (p.(=)), ANO5(NM_213599.2):c.2521-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691031" "0" "30" "11" "22232869" "22232869" "subst" "1.22516E-5" "01943" "ANO5_000265" "g.22232869C>T" "" "" "" "ANO5(NM_213599.2):c.138+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691032" "0" "90" "11" "22284590" "22284590" "subst" "0.000118037" "01943" "ANO5_000033" "g.22284590G>A" "" "" "" "ANO5(NM_001142649.1):c.1895+1G>A (p.?), ANO5(NM_001142649.2):c.1895+1G>A, ANO5(NM_213599.2):c.1898+1G>A, ANO5(NM_213599.3):c.1898+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691033" "0" "30" "11" "22294441" "22294441" "subst" "0.000873238" "02325" "ANO5_000060" "g.22294441C>G" "" "" "" "ANO5(NM_001142649.1):c.2138C>G (p.(Thr713Ser)), ANO5(NM_213599.2):c.2141C>G (p.T714S), ANO5(NM_213599.3):c.2141C>G (p.T714S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691034" "0" "30" "11" "22296282" "22296282" "subst" "0" "01943" "ANO5_000266" "g.22296282C>T" "" "" "" "ANO5(NM_213599.2):c.2403C>T (p.F801=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000694687" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Vazquez 2020:32925086}" "" "191dupA" "" "Germline" "yes" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000694688" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Vazquez 2020:32925086}" "" "191dupA" "" "Germline" "yes" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000694689" "3" "70" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "" "{PMID:Vazquez 2020:32925086}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "likely pathogenic (recessive)" "" "0000694690" "3" "70" "11" "22214722" "22249133" "del" "0" "00006" "ANO5_000267" "g.(?_22214722)_(22249133_22257708)del" "" "{PMID:Vazquez 2020:32925086}" "" "del ex1-7" "" "Germline" "" "" "0" "" "" "g.(?_22193176)_(22227587_22236162)del" "" "pathogenic (recessive)" "" "0000694691" "3" "70" "11" "22239825" "22239825" "subst" "9.76173E-5" "00006" "ANO5_000039" "g.22239825C>T" "" "{PMID:Vazquez 2020:32925086}" "" "" "" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "likely pathogenic (recessive)" "" "0000694692" "2" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00006" "ANO5_000033" "g.22284590G>A" "" "{PMID:Vazquez 2020:32925086}" "" "" "" "Germline" "yes" "" "0" "" "" "g.22263044G>A" "" "pathogenic (recessive)" "" "0000694693" "2" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00006" "ANO5_000033" "g.22284590G>A" "" "{PMID:Vazquez 2020:32925086}" "" "" "" "Germline" "yes" "" "0" "" "" "g.22263044G>A" "" "pathogenic (recessive)" "" "0000694694" "3" "90" "11" "22275106" "22286876" "del" "0" "00006" "ANO5_000268" "g.22275106_22286876del" "" "{PMID:Lahoria 2014:24889862}" "" "del ex13-17" "" "Germline" "" "" "0" "" "" "g.22253560_22265330del" "" "pathogenic (recessive)" "" "0000694731" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Liewluck 2013:23663589}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000694732" "1" "90" "11" "22283777" "22283777" "subst" "0.000211358" "00006" "ANO5_000031" "g.22283777T>C" "" "{PMID:Liewluck 2013:23663589}" "" "" "" "Germline" "" "" "0" "" "" "g.22262231T>C" "" "pathogenic (recessive)" "" "0000694733" "1" "90" "11" "22291963" "22291963" "del" "0" "00006" "ANO5_000042" "g.22291963del" "" "{PMID:Liewluck 2013:23663589}" "" "2004delG" "" "Germline" "" "" "0" "" "" "g.22270417del" "" "pathogenic (recessive)" "" "0000694734" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Liewluck 2013:23663589}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000694735" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Liewluck 2013:23663589}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000694736" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Liewluck 2013:23663589}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000694737" "1" "90" "11" "22291963" "22291963" "del" "0" "00006" "ANO5_000042" "g.22291963del" "" "{PMID:Liewluck 2013:23663589}" "" "2004delG" "" "Germline" "" "" "0" "" "" "g.22270417del" "" "pathogenic (recessive)" "" "0000694738" "2" "90" "11" "22291977" "22291977" "subst" "0" "00006" "ANO5_000029" "g.22291977A>G" "" "{PMID:Liewluck 2013:23663589}" "" "" "" "Germline" "" "" "0" "" "" "g.22270431A>G" "" "pathogenic (recessive)" "" "0000694739" "2" "90" "11" "22284494" "22284494" "subst" "0" "00006" "ANO5_000270" "g.22284494T>A" "" "{PMID:Liewluck 2013:23663589}" "" "" "" "Germline" "" "" "0" "" "" "g.22262948T>A" "" "pathogenic (recessive)" "" "0000694740" "2" "90" "11" "22044899" "22462949" "del" "0" "00006" "ANO5_000269" "g.(?_22044899)_(22462949_?)del" "" "{PMID:Liewluck 2013:23663589}" "" "minmal 22044899-22462949del" "418 kb deletion involving ANO5" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000694741" "2" "90" "11" "22297723" "22297723" "subst" "0.000118116" "00006" "ANO5_000034" "g.22297723T>A" "" "{PMID:Liewluck 2013:23663589}" "" "" "" "Germline" "" "" "0" "" "" "g.22276177T>A" "" "pathogenic (recessive)" "" "0000694742" "2" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00006" "ANO5_000033" "g.22284590G>A" "" "{PMID:Liewluck 2013:23663589}" "" "" "" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic (recessive)" "" "0000694743" "2" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "" "{PMID:Liewluck 2013:23663589}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic (recessive)" "" "0000694744" "2" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "" "{PMID:Liewluck 2013:23663589}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic (recessive)" "" "0000696747" "0" "70" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "" "{PMID:Nicolau 2020:32646536}" "" "NM_00114264:689G>T (Gly230Val)" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000696768" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Schröder 2013:24803842}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000696769" "3" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Schröder 2013:24803842}" "" "192dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000696770" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Schröder 2013:24803842}" "" "193dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000696782" "2" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Schröder 2013:24803842}" "" "R578C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000696783" "2" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00006" "ANO5_000033" "g.22284590G>A" "" "{PMID:Schröder 2013:24803842}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000696879" "3" "90" "11" "22248881" "22248881" "subst" "0" "00006" "ANO5_000067" "g.22248881A>T" "" "{PMID:Magri 2015:26404900}" "" "" "" "Germline" "" "" "0" "" "" "g.22227335A>T" "" "pathogenic (recessive)" "" "0000696880" "1" "90" "11" "22242682" "22242682" "subst" "2.85878E-5" "00006" "ANO5_000066" "g.22242682C>T" "" "{PMID:Magri 2015:26404900}" "" "" "" "Germline" "" "" "0" "" "" "g.22221136C>T" "" "pathogenic (recessive)" "" "0000696881" "3" "90" "11" "22281284" "22281284" "dup" "0" "00006" "ANO5_000061" "g.22281284dup" "" "{PMID:Magri 2015:26404900}" "" "" "" "Germline" "" "" "0" "" "" "g.22259738dup" "" "pathogenic (recessive)" "" "0000696882" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Magri 2015:26404900}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000696883" "1" "90" "11" "22261169" "22261169" "subst" "2.43948E-5" "00006" "ANO5_000160" "g.22261169C>T" "" "{PMID:Magri 2015:26404900}" "" "" "" "Germline" "" "" "0" "" "" "g.22239623C>T" "" "pathogenic (recessive)" "" "0000696928" "2" "90" "11" "22281266" "22281266" "subst" "8.14664E-6" "00006" "ANO5_000068" "g.22281266T>C" "" "{PMID:Magri 2015:26404900}" "" "" "" "Germline" "" "" "0" "" "" "g.22259720T>C" "" "pathogenic (recessive)" "" "0000696929" "2" "90" "11" "22297741" "22297741" "subst" "0" "00006" "ANO5_000063" "g.22297741T>G" "" "{PMID:Magri 2015:26404900}" "" "" "" "Germline" "" "" "0" "" "" "g.22276195T>G" "" "pathogenic (recessive)" "" "0000696930" "2" "90" "11" "22296266" "22296266" "subst" "0.00871481" "00006" "ANO5_000053" "g.22296266C>T" "" "{PMID:Magri 2015:26404900}" "" "" "" "Germline" "" "" "0" "" "" "g.22274720C>T" "" "pathogenic (recessive)" "" "0000696964" "1" "90" "11" "22225349" "22225349" "subst" "1.25104E-5" "00399" "ANO5_000044" "g.22225349G>A" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22203803G>A" "" "pathogenic (recessive)" "" "0000696965" "1" "90" "11" "22225396" "22225396" "subst" "0" "00399" "ANO5_000271" "g.22225396G>A" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22203850G>A" "" "pathogenic (recessive)" "" "0000696966" "1" "90" "11" "22239801" "22239801" "subst" "0" "00399" "ANO5_000052" "g.22239801C>T" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22218255C>T" "" "pathogenic (recessive)" "" "0000696967" "1" "90" "11" "22239808" "22239808" "subst" "0.00213491" "00399" "ANO5_000048" "g.22239808A>G" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22218262A>G" "" "pathogenic (recessive)" "" "0000696968" "1" "90" "11" "22239808" "22239808" "subst" "0.00213491" "00399" "ANO5_000048" "g.22239808A>G" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22218262A>G" "" "pathogenic (recessive)" "" "0000696969" "1" "90" "11" "22239822" "22239822" "subst" "1.22007E-5" "00399" "ANO5_000272" "g.22239822C>T" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22218276C>T" "" "pathogenic (recessive)" "" "0000696970" "3" "90" "11" "22242653" "22242653" "dup" "0" 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(recessive)" "" "0000697047" "2" "90" "11" "22291914" "22291914" "subst" "0" "00399" "ANO5_000259" "g.22291914A>G" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "yes" "" "0" "" "" "g.22270368A>G" "" "pathogenic (recessive)" "" "0000697048" "2" "90" "11" "22291914" "22291914" "subst" "0" "00399" "ANO5_000259" "g.22291914A>G" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "yes" "" "0" "" "" "g.22270368A>G" "" "pathogenic (recessive)" "" "0000697049" "2" "90" "11" "22291922" "22291922" "subst" "4.06131E-6" "00399" "ANO5_000277" "g.22291922T>C" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22270376T>C" "" "pathogenic (recessive)" "" "0000697050" "2" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00399" "ANO5_000033" "g.22284590G>A" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic (recessive)" "" "0000697051" "2" "90" "11" "22297658" "22297658" "subst" "0" "00399" "ANO5_000054" "g.22297658T>A" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22276112T>A" "" "pathogenic (recessive)" "" "0000697052" "2" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00399" "ANO5_000033" "g.22284590G>A" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic (recessive)" "" "0000697053" "2" "90" "11" "22301152" "22301154" "del" "0" "00399" "ANO5_000278" "g.22301152_22301154del" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22279606_22279608del" "" "pathogenic (recessive)" "" "0000697054" "2" "90" "11" "22279284" "22279284" "subst" "8.13656E-6" "00399" "ANO5_000252" "g.22279284C>A" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.22257738C>A" "" "pathogenic (recessive)" "" "0000697289" "0" "70" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "18/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22221107dup" "" "likely pathogenic" "" "0000697290" "0" "70" "11" "22281284" "22281284" "dup" "0" "00006" "ANO5_000061" "g.22281284dup" "5/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22259738dup" "" "likely pathogenic" "" "0000697291" "0" "70" "11" "22291883" "22291883" "subst" "8.12387E-6" "00006" "ANO5_000288" "g.22291883C>T" "4/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22270337C>T" "" "likely pathogenic" "" "0000697292" "0" "70" "11" "22239825" "22239825" "subst" "9.76173E-5" "00006" "ANO5_000039" "g.22239825C>T" "3/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "likely pathogenic" "" "0000697293" "0" "70" "11" "22242682" "22242682" "subst" "2.85878E-5" "00006" "ANO5_000066" "g.22242682C>T" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22221136C>T" "" "likely pathogenic" "" "0000697294" "0" "70" "11" "22248846" "22248846" "subst" "0" "00006" "ANO5_000280" "g.22248846A>G" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22227300A>G" "" "likely pathogenic" "" "0000697295" "0" "70" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "likely pathogenic" "" "0000697296" "0" "70" "11" "22261116" "22261116" "subst" "0" "00006" "ANO5_000283" "g.22261116G>A" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22239570G>A" "" "likely pathogenic" "" "0000697297" "0" "70" "11" "22294522" "22294522" "subst" "8.12367E-6" "00006" "ANO5_000292" "g.22294522C>A" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22272976C>A" "" "likely pathogenic" "" "0000697298" "0" "70" "11" "22296290" "22296290" "subst" "0" "00006" "ANO5_000293" "g.22296290G>C" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22274744G>C" "" "likely pathogenic" "" "0000697299" "0" "70" "11" "22297723" "22297723" "subst" "0.000118116" "00006" "ANO5_000034" "g.22297723T>A" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22276177T>A" "" "likely pathogenic" "" "0000697300" "0" "70" "11" "22225378" "22225378" "subst" "0" "00006" "ANO5_000279" "g.22225378C>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22203832C>A" "" "likely pathogenic" "" "0000697301" "0" "70" "11" "22248879" "22248879" "subst" "0" "00006" "ANO5_000281" "g.22248879A>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22227333A>T" "" "likely pathogenic" "" "0000697302" "0" "70" "11" "22257707" "22257707" "subst" "0" "00006" "ANO5_000282" "g.22257707A>G" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22236161A>G" "" "likely pathogenic" "" "0000697303" "0" "70" "11" "22257809" "22257809" "subst" "2.03518E-5" "00006" "ANO5_000155" "g.22257809A>G" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22236263A>G" "" "likely pathogenic" "" "0000697304" "0" "70" "11" "22261169" "22261169" "subst" "2.43948E-5" "00006" "ANO5_000160" "g.22261169C>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22239623C>T" "" "likely pathogenic" "" "0000697305" "0" "70" "11" "22271802" "22271802" "dup" "0" "00006" "ANO5_000284" "g.22271802dup" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22250256dup" "" "likely pathogenic" "" "0000697306" "0" "70" "11" "22272393" "22272393" "subst" "8.13491E-6" "00006" "ANO5_000285" "g.22272393G>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22250847G>T" "" "likely pathogenic" "" "0000697307" "0" "70" "11" "22272563" "22272563" "subst" "8.25055E-6" "00006" "ANO5_000286" "g.22272563T>C" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22251017T>C" "" "likely pathogenic" "" "0000697308" "0" "70" "11" "22276946" "22276946" "subst" "4.10277E-6" "00006" "ANO5_000046" "g.22276946C>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22255400C>T" "" "likely pathogenic" "" "0000697309" "0" "70" "11" "22276947" "22276947" "subst" "2.46039E-5" "00006" "ANO5_000178" "g.22276947G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22255401G>A" "" "likely pathogenic" "" "0000697310" "0" "70" "11" "22279305" "22279305" "subst" "8.15142E-6" "00006" "ANO5_000058" "g.22279305G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22257759G>A" "" "likely pathogenic" "" "0000697311" "0" "70" "11" "22281096" "22281096" "subst" "0" "00006" "ANO5_000287" "g.22281096T>G" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22259550T>G" "" "likely pathogenic" "" "0000697312" "0" "70" "11" "22281177" "22281177" "del" "0" "00006" "ANO5_000051" "g.22281177del" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22259631del" "" "likely pathogenic" "" "0000697313" "0" "70" "11" "22283708" "22283708" "subst" "8.5361E-5" "00006" "ANO5_000071" "g.22283708G>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22262162G>T" "" "likely pathogenic" "" "0000697314" "0" "70" "11" "22284590" "22284590" "subst" "0.000118037" "00006" "ANO5_000033" "g.22284590G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "likely pathogenic" "" "0000697315" "0" "70" "11" "22291942" "22291942" "del" "0" "00006" "ANO5_000290" "g.22291942del" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22270396del" "" "likely pathogenic" "" "0000697316" "0" "70" "11" "22291941" "22291941" "subst" "0" "00006" "ANO5_000289" "g.22291941T>C" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22270395T>C" "" "likely pathogenic" "" "0000697317" "0" "70" "11" "22291971" "22291971" "subst" "8.1244E-6" "00006" "ANO5_000291" "g.22291971A>G" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22270425A>G" "" "likely pathogenic" "" "0000697318" "0" "70" "11" "22297719" "22297719" "subst" "0" "00006" "ANO5_000294" "g.22297719A>G" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22276173A>G" "" "likely pathogenic" "" "0000697319" "0" "70" "11" "22301089" "22301089" "del" "4.094E-6" "00006" "ANO5_000222" "g.22301089del" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22279543del" "" "likely pathogenic" "" "0000697320" "0" "70" "11" "22301090" "22301090" "subst" "4.5013E-5" "00006" "ANO5_000122" "g.22301090C>G" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22279544C>G" "" "likely pathogenic" "" "0000697321" "0" "70" "11" "22301205" "22301205" "subst" "4.06822E-6" "00006" "ANO5_000295" "g.22301205T>C" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.22279659T>C" "" "likely pathogenic" "" "0000708793" "0" "70" "11" "22249067" "22249067" "subst" "4.89085E-5" "03779" "ANO5_000296" "g.22249067C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs149040903" "0" "" "" "" "" "likely pathogenic" "" "0000723368" "0" "30" "11" "22215047" "22215047" "subst" "0" "01943" "ANO5_000297" "g.22215047C>G" "" "" "" "ANO5(NM_213599.2):c.9C>G (p.D3E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723369" "0" "90" "11" "22242653" "22242653" "dup" "0" "02329" "ANO5_000004" "g.22242653dup" "" "" "" "ANO5(NM_001142649.1):c.188dup (p.(Asn63Lysfs*15)), ANO5(NM_001142649.2):c.188dupA (p.N63Kfs*15), ANO5(NM_213599.2):c.191dupA (p.N64Kfs*15), ANO5(N...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723370" "0" "30" "11" "22248962" "22248962" "subst" "3.66473E-5" "01943" "ANO5_000298" "g.22248962C>T" "" "" "" "ANO5(NM_213599.2):c.478C>T (p.R160C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723371" "0" "50" "11" "22249103" "22249103" "subst" "0" "02325" "ANO5_000299" "g.22249103T>G" "" "" "" "ANO5(NM_213599.3):c.619T>G (p.F207V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723372" "0" "50" "11" "22261140" "22261140" "subst" "4.06537E-5" "02325" "ANO5_000300" "g.22261140C>T" "" "" "" "ANO5(NM_213599.3):c.788C>T (p.P263L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723373" "0" "50" "11" "22283777" "22283777" "subst" "0.000211358" "01943" "ANO5_000031" "g.22283777T>C" "" "" "" "ANO5(NM_213599.2):c.1733T>C (p.F578S), ANO5(NM_213599.3):c.1733T>C (p.(Phe578Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723374" "0" "10" "11" "22296105" "22296105" "dup" "0" "02329" "ANO5_000244" "g.22296105dup" "" "" "" "ANO5(NM_001142649.2):c.2233-10dupT, ANO5(NM_213599.2):c.2236-10dupT, ANO5(NM_213599.2):c.2236-17dup (p.(=)), ANO5(NM_213599.3):c.2236-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723375" "0" "50" "11" "22301176" "22301176" "subst" "0" "01943" "ANO5_000301" "g.22301176G>C" "" "" "" "ANO5(NM_213599.2):c.2607G>C (p.K869N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723376" "0" "50" "11" "22301267" "22301267" "subst" "0.0012538" "02329" "ANO5_000124" "g.22301267A>C" "" "" "" "ANO5(NM_001142649.1):c.2695A>C (p.(Met899Leu)), ANO5(NM_213599.2):c.2698A>C (p.M900L), ANO5(NM_213599.3):c.2698A>C (p.M900L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763583" "3" "90" "11" "22239822" "22239822" "subst" "1.22007E-5" "04047" "ANO5_000272" "g.22239822C>T" "" "{PMID:Saat 2021:33963534}" "" "g.48361T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000786736" "3" "70" "11" "22283777" "22283777" "subst" "0.000211358" "00006" "ANO5_000031" "g.22283777T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.22262231T>C" "" "likely pathogenic" "" "0000790067" "0" "50" "11" "22296164" "22296164" "subst" "4.06861E-6" "03779" "ANO5_000302" "g.22296164A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs373292041" "0" "" "" "" "" "VUS" "" "0000790068" "0" "50" "11" "22297728" "22297730" "del" "0" "03779" "ANO5_000121" "g.22297728_22297730del" "" "" "" "" "" "CLASSIFICATION record" "" "rs794727350" "0" "" "" "" "" "VUS" "" "0000805065" "0" "30" "11" "22242647" "22242647" "subst" "2.87463E-5" "01943" "ANO5_000138" "g.22242647A>G" "" "" "" "ANO5(NM_001142649.1):c.182A>G (p.(Gln61Arg)), ANO5(NM_213599.2):c.185A>G (p.Q62R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805066" "0" "30" "11" "22272323" "22272323" "subst" "4.06894E-6" "01804" "ANO5_000303" "g.22272323G>C" "" "" "" "ANO5(NM_001142649.1):c.1047G>C (p.(Met349Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000819177" "3" "90" "11" "22279299" "22279299" "subst" "8.14332E-6" "00006" "ANO5_000304" "g.22279299G>A" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "g.22257753G>A" "" "pathogenic (recessive)" "ACMG" "0000819178" "3" "70" "11" "22294441" "22294444" "dup" "0" "00006" "ANO5_000305" "g.22294441_22294444dup" "" "{PMID:Chakravorty 2020:33250842}" "" "c.2141_2144dupCTCA" "" "Germline" "" "" "0" "" "" "g.22272895_22272898dup" "" "likely pathogenic (recessive)" "ACMG" "0000819179" "3" "90" "11" "22279299" "22279299" "subst" "8.14332E-6" "00006" "ANO5_000304" "g.22279299G>A" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "g.22257753G>A" "" "pathogenic (recessive)" "ACMG" "0000819287" "0" "90" "11" "22279299" "22279299" "subst" "8.14332E-6" "00006" "ANO5_000304" "g.22279299G>A" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000823960" "0" "50" "11" "22296266" "22296266" "subst" "0.00871481" "03501" "ANO5_000053" "g.22296266C>T" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.22274720C>T" "" "VUS" "" "0000823986" "0" "50" "11" "22261179" "22261179" "subst" "0" "03501" "ANO5_000306" "g.22261179A>T" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.22239633A>T" "" "VUS" "" "0000825391" "0" "90" "11" "22294501" "22294501" "subst" "0" "03779" "ANO5_000307" "g.22294501T>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000829347" "0" "50" "11" "22301195" "22301195" "subst" "0" "03779" "ANO5_000308" "g.22301195C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000833008" "1" "90" "11" "22242653" "22242653" "dup" "0" "02291" "ANO5_000004" "g.22242653dup" "" "{PMID:Segui 2020:32399949}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000833009" "2" "70" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "" "{PMID:Segui 2020:32399949}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000833010" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Segui 2020:32399949}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000833011" "2" "70" "11" "22301090" "22301090" "subst" "4.5013E-5" "00006" "ANO5_000122" "g.22301090C>G" "" "{PMID:Segui 2020:32399949}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000833012" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Segui 2020:32399949}" "" "191dupA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000833013" "2" "70" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "" "{PMID:Segui 2020:32399949}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000833121" "1" "70" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "likely pathogenic" "" "0000833146" "1" "70" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "likely pathogenic" "" "0000833161" "1" "70" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "likely pathogenic" "" "0000833163" "1" "70" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "likely pathogenic" "" "0000833189" "2" "70" "11" "22294441" "22294441" "subst" "0.000873238" "00006" "ANO5_000060" "g.22294441C>G" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.22272895C>G" "" "likely pathogenic" "" "0000833199" "2" "70" "11" "22301090" "22301090" "subst" "4.5013E-5" "00006" "ANO5_000122" "g.22301090C>G" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.22279544C>G" "" "likely pathogenic" "" "0000833203" "2" "70" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "likely pathogenic" "" "0000833204" "2" "70" "11" "22272393" "22272393" "subst" "8.13491E-6" "00006" "ANO5_000285" "g.22272393G>T" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.22250847G>T" "" "likely pathogenic" "" "0000839165" "3" "70" "11" "22294501" "22294501" "subst" "0" "01929" "ANO5_000307" "g.22294501T>C" "" "{PMID:Cerino 2022:35741838}" "" "" "ACMG PM2, PM3, PP3, PP4_mod" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000852855" "0" "30" "11" "22292008" "22292008" "subst" "0.000117828" "02329" "ANO5_000313" "g.22292008T>A" "" "" "" "ANO5(NM_213599.3):c.2029+20T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852856" "0" "10" "11" "22296105" "22296105" "dup" "0" "02326" "ANO5_000244" "g.22296105dup" "" "" "" "ANO5(NM_001142649.2):c.2233-10dupT, ANO5(NM_213599.2):c.2236-10dupT, ANO5(NM_213599.2):c.2236-17dup (p.(=)), ANO5(NM_213599.3):c.2236-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852857" "0" "10" "11" "22296135" "22296135" "subst" "0.00169022" "02329" "ANO5_000117" "g.22296135G>A" "" "" "" "ANO5(NM_001142649.1):c.2253G>A (p.(Thr751=)), ANO5(NM_213599.3):c.2256G>A (p.T752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852858" "0" "10" "11" "22296266" "22296266" "subst" "0.00871481" "02329" "ANO5_000053" "g.22296266C>T" "" "" "" "ANO5(NM_001142649.1):c.2384C>T (p.(Ser795Leu)), ANO5(NM_213599.2):c.2387C>T (p.S796L), ANO5(NM_213599.3):c.2387C>T (p.S796L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852859" "0" "10" "11" "22301215" "22301215" "subst" "0.00245329" "02326" "ANO5_000014" "g.22301215C>G" "" "" "" "ANO5(NM_213599.2):c.2646C>G (p.N882K), ANO5(NM_213599.3):c.2646C>G (p.N882K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862480" "0" "30" "11" "22242647" "22242647" "subst" "2.87463E-5" "01804" "ANO5_000138" "g.22242647A>G" "" "" "" "ANO5(NM_001142649.1):c.182A>G (p.(Gln61Arg)), ANO5(NM_213599.2):c.185A>G (p.Q62R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862481" "0" "30" "11" "22248952" "22248952" "subst" "0" "01943" "ANO5_000309" "g.22248952T>C" "" "" "" "ANO5(NM_213599.2):c.468T>C (p.S156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862482" "0" "10" "11" "22249088" "22249088" "subst" "0.00235226" "02329" "ANO5_000093" "g.22249088G>A" "" "" "" "ANO5(NM_001142649.1):c.601G>A (p.(Glu201Lys)), ANO5(NM_213599.2):c.604G>A (p.E202K), ANO5(NM_213599.3):c.604G>A (p.E202K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862483" "0" "50" "11" "22257827" "22257827" "subst" "0" "02327" "ANO5_000310" "g.22257827G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862484" "0" "30" "11" "22272368" "22272368" "subst" "0.000463716" "01943" "ANO5_000019" "g.22272368A>G" "" "" "" "ANO5(NM_213599.2):c.1095A>G (p.L365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862485" "0" "70" "11" "22279224" "22279224" "subst" "0" "01943" "ANO5_000311" "g.22279224A>C" "" "" "" "ANO5(NM_213599.2):c.1333-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862486" "0" "50" "11" "22281258" "22281258" "subst" "1.62812E-5" "02327" "ANO5_000312" "g.22281258A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862487" "0" "30" "11" "22296239" "22296239" "subst" "0" "01943" "ANO5_000314" "g.22296239C>T" "" "" "" "ANO5(NM_213599.2):c.2360C>T (p.A787V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862488" "0" "50" "11" "22301169" "22301169" "subst" "4.06888E-6" "01943" "ANO5_000315" "g.22301169G>T" "" "" "" "ANO5(NM_213599.2):c.2600G>T (p.R867I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000869041" "1" "70" "11" "22276949" "22276949" "subst" "1.2296E-5" "00006" "ANO5_000179" "g.22276949C>T" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PVS1, PP5, PP3, PM2" "Germline" "" "" "0" "" "" "g.22255403C>T" "" "likely pathogenic (recessive)" "" "0000869094" "2" "70" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PVS1, PP5, PP3" "Germline" "" "" "0" "" "" "g.22221107dup" "" "likely pathogenic (recessive)" "" "0000870229" "0" "70" "11" "22296196" "22296196" "subst" "1.62584E-5" "03779" "ANO5_000316" "g.22296196A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs751028884" "0" "" "" "" "" "likely pathogenic" "" "0000871446" "0" "10" "11" "22279280" "22279280" "subst" "5.69536E-5" "00053" "ANO5_000183" "g.22279280G>A" "" "{PMID:Escobar-Cedillo 2021:34628793}" "" "c.1387G>A; p.(Gly463Arg)" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000871877" "0" "50" "11" "22242653" "22242653" "dup" "0" "04133" "ANO5_000317" "g.22242653dupA" "" "https://pubmed.ncbi.nlm.nih.gov/35741838/" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "" "0000871969" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Cerino 2022:35741838}" "" "191dupA" "ACMG PM2, PM3, PP3, PP4_mod" "Germline" "" "" "0" "" "" "g.22221107dup" "" "likely pathogenic (recessive)" "" "0000872012" "3" "70" "11" "22294501" "22294501" "subst" "0" "00006" "ANO5_000307" "g.22294501T>C" "" "{PMID:Cerino 2022:35741838}" "" "" "ACMG PM2, PM3, PP3, PP4_mod" "Germline" "" "" "0" "" "" "g.22272955T>C" "" "likely pathogenic" "ACMG" "0000876274" "1" "70" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "" "{PMID:Bruels 2022:35734998}" "" "" "no variant 2nd chromosome" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000881137" "3" "70" "11" "22297723" "22297723" "subst" "0.000118116" "02300" "ANO5_000034" "g.22297723T>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM3, PP2, PP3, PP5, BS2" "Germline" "" "rs142073798" "0" "" "" "g.22276177T>A" "" "likely pathogenic (recessive)" "ACMG" "0000881257" "21" "90" "11" "22281177" "22281177" "del" "0" "02300" "ANO5_000051" "g.22281177del" "" "{PMID:Marinakis 2021:34008892}" "" "NM_001142649.1:c.1517delT (Phe506SerfsTer6)" "ACMG PVS1, PM2, PP3, PP5" "Germline" "" "" "0" "" "" "g.22259631del" "" "pathogenic (recessive)" "ACMG" "0000881258" "11" "90" "11" "22281284" "22281284" "dup" "0" "02300" "ANO5_000061" "g.22281284dup" "" "{PMID:Marinakis 2021:34008892}" "" "c.1627dupA" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.22259738dup" "" "pathogenic (recessive)" "ACMG" "0000881259" "11" "70" "11" "22257752" "22257752" "subst" "0.000964497" "02300" "ANO5_000005" "g.22257752G>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PP3, PP2, PP5, PM3" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "likely pathogenic (recessive)" "ACMG" "0000881260" "21" "70" "11" "22239826" "22239826" "subst" "2.8471E-5" "02300" "ANO5_000228" "g.22239826G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM3, PP1, PP2, PP3" "Germline" "" "" "0" "" "" "g.22218280G>A" "" "likely pathogenic (recessive)" "ACMG" "0000881351" "11" "90" "11" "22242642" "22242757" "del" "0" "02300" "ANO5_000318" "g.(22239834_22242642)_(22242757_22247529)del" "" "{PMID:Marinakis 2021:34008892}" "" "NM_001142649.1 del ex5" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.(22218288_22221096)_(22218288_22221096)del" "" "pathogenic (recessive)" "ACMG" "0000881352" "21" "70" "11" "22296151" "22296151" "subst" "0.000580051" "02300" "ANO5_000006" "g.22296151C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PP3, PP5" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "likely pathogenic (recessive)" "ACMG" "0000881353" "21" "70" "11" "22257769" "22257769" "subst" "0" "02300" "ANO5_000319" "g.22257769A>G" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM2, PM3, PP2, PP3" "Germline" "" "" "0" "" "" "g.22236223A>G" "" "likely pathogenic (recessive)" "ACMG" "0000881354" "11" "90" "11" "22242642" "22242757" "del" "0" "02300" "ANO5_000318" "g.(22239834_22242642)_(22242757_22247529)del" "" "{PMID:Marinakis 2021:34008892}" "" "del ex5" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.(22218288_22221096)_(22218288_22221096)del" "" "pathogenic (recessive)" "ACMG" "0000889761" "0" "30" "11" "22232870" "22232870" "subst" "0.000441083" "02329" "ANO5_000320" "g.22232870G>A" "" "" "" "ANO5(NM_213599.3):c.138+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889762" "0" "10" "11" "22233029" "22233029" "subst" "0" "02326" "ANO5_000009" "g.22233029G>A" "" "" "" "ANO5(NM_213599.2):c.138+169G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889763" "0" "10" "11" "22239628" "22239628" "del" "0" "02326" "ANO5_000321" "g.22239628del" "" "" "" "ANO5(NM_213599.2):c.139-164delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889765" "0" "30" "11" "22249088" "22249088" "subst" "0.00235226" "01804" "ANO5_000093" "g.22249088G>A" "" "" "" "ANO5(NM_001142649.1):c.601G>A (p.(Glu201Lys)), ANO5(NM_213599.2):c.604G>A (p.E202K), ANO5(NM_213599.3):c.604G>A (p.E202K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889767" "0" "50" "11" "22272354" "22272354" "subst" "0" "01804" "ANO5_000322" "g.22272354G>A" "" "" "" "ANO5(NM_001142649.1):c.1078G>A (p.(Asp360Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889768" "0" "50" "11" "22276937" "22276937" "subst" "4.10921E-6" "01804" "ANO5_000323" "g.22276937T>C" "" "" "" "ANO5(NM_213599.2):c.1201T>C (p.(Trp401Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889769" "0" "30" "11" "22279241" "22279241" "subst" "0" "01804" "ANO5_000128" "g.22279241A>T" "" "" "" "ANO5(NM_001142649.1):c.1345A>T (p.(Met449Leu)), ANO5(NM_213599.3):c.1348A>T (p.M450L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889770" "0" "30" "11" "22283766" "22283766" "subst" "3.25166E-5" "02326" "ANO5_000324" "g.22283766C>T" "" "" "" "ANO5(NM_213599.2):c.1722C>T (p.Y574=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889771" "0" "30" "11" "22283860" "22283860" "subst" "0.000256569" "02329" "ANO5_000325" "g.22283860A>G" "" "" "" "ANO5(NM_001142649.1):c.1797+16A>G (p.(=)), ANO5(NM_213599.3):c.1800+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889772" "0" "90" "11" "22284590" "22284590" "subst" "0.000118037" "02326" "ANO5_000033" "g.22284590G>A" "" "" "" "ANO5(NM_001142649.1):c.1895+1G>A (p.?), ANO5(NM_001142649.2):c.1895+1G>A, ANO5(NM_213599.2):c.1898+1G>A, ANO5(NM_213599.3):c.1898+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889773" "0" "90" "11" "22284590" "22284590" "subst" "0.000118037" "02329" "ANO5_000033" "g.22284590G>A" "" "" "" "ANO5(NM_001142649.1):c.1895+1G>A (p.?), ANO5(NM_001142649.2):c.1895+1G>A, ANO5(NM_213599.2):c.1898+1G>A, ANO5(NM_213599.3):c.1898+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889774" "0" "10" "11" "22296105" "22296105" "del" "0" "02329" "ANO5_000109" "g.22296105del" "" "" "" "ANO5(NM_001142649.1):c.2233-17del (p.(=)), ANO5(NM_213599.2):c.2236-10delT, ANO5(NM_213599.3):c.2236-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889775" "0" "10" "11" "22296138" "22296138" "subst" "0.00403874" "02329" "ANO5_000118" "g.22296138A>G" "" "" "" "ANO5(NM_213599.3):c.2259A>G (p.S753=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889776" "0" "10" "11" "22297618" "22297618" "del" "0" "02326" "ANO5_000326" "g.22297618del" "" "" "" "ANO5(NM_213599.2):c.2415-22delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889777" "0" "10" "11" "22301423" "22301424" "del" "0" "02326" "ANO5_000327" "g.22301423_22301424del" "" "" "" "ANO5(NM_213599.2):c.*112_*113delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889778" "0" "10" "11" "22301424" "22301424" "del" "0" "02326" "ANO5_000328" "g.22301424del" "" "" "" "ANO5(NM_213599.2):c.*113delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913552" "0" "30" "11" "22257781" "22257781" "subst" "2.03444E-5" "02329" "ANO5_000329" "g.22257781C>T" "" "" "" "ANO5(NM_213599.3):c.721C>T (p.L241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913553" "0" "50" "11" "22296105" "22296105" "dup" "0" "01804" "ANO5_000244" "g.22296105dup" "" "" "" "ANO5(NM_001142649.2):c.2233-10dupT, ANO5(NM_213599.2):c.2236-10dupT, ANO5(NM_213599.2):c.2236-17dup (p.(=)), ANO5(NM_213599.3):c.2236-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913554" "0" "50" "11" "22301083" "22301083" "subst" "0.000278746" "01804" "ANO5_000264" "g.22301083C>T" "" "" "" "ANO5(NM_001142649.1):c.2518-7C>T (p.(=)), ANO5(NM_213599.2):c.2521-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913555" "0" "10" "11" "22301215" "22301215" "subst" "0.00245329" "02325" "ANO5_000014" "g.22301215C>G" "" "" "" "ANO5(NM_213599.2):c.2646C>G (p.N882K), ANO5(NM_213599.3):c.2646C>G (p.N882K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913556" "0" "30" "11" "22301215" "22301215" "subst" "0.00245329" "02329" "ANO5_000014" "g.22301215C>G" "" "" "" "ANO5(NM_213599.2):c.2646C>G (p.N882K), ANO5(NM_213599.3):c.2646C>G (p.N882K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000917150" "1" "70" "11" "22215078" "22215078" "subst" "0" "00006" "ANO5_000330" "g.22215078G>A" "" "{PMID:Cavdarli 2023:36575883}" "" "" "ACMG PM2 PP3_S PM3" "Germline" "" "" "0" "" "" "g.22193532G>A" "" "likely pathogenic (recessive)" "ACMG" "0000917177" "21" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00006" "ANO5_000033" "g.22284590G>A" "" "{PMID:Cavdarli 2023:36575883}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic" "" "0000917182" "0" "90" "11" "22248896" "22248896" "subst" "0" "00006" "ANO5_000331" "g.22248896G>T" "" "{PMID:Cavdarli 2023:36575883}" "" "" "possible di-genic inheritance" "Germline" "" "rs1554924356" "0" "" "" "g.22227350G>T" "" "pathogenic" "" "0000917185" "2" "70" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "" "{PMID:Cavdarli 2023:36575883}" "" "" "ACMG PM2 PP3 PP5_S" "Germline" "" "rs137854523" "0" "" "" "g.22236206G>T" "" "likely pathogenic (recessive)" "ACMG" "0000925367" "0" "30" "11" "22249100" "22249100" "subst" "0.00217652" "01804" "ANO5_000094" "g.22249100A>G" "" "" "" "ANO5(NM_001142649.1):c.613A>G (p.(Thr205Ala)), ANO5(NM_213599.3):c.616A>G (p.T206A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927825" "0" "50" "11" "22296266" "22296266" "subst" "0.00871481" "03779" "ANO5_000053" "g.22296266C>T" "" "" "" "" "" "Unknown" "" "rs61910685" "0" "" "" "" "" "VUS" "" "0000929843" "0" "30" "11" "22242721" "22242721" "subst" "0.000845229" "02326" "ANO5_000236" "g.22242721G>A" "" "" "" "ANO5(NM_001142649.1):c.256G>A (p.(Val86Ile)), ANO5(NM_213599.2):c.259G>A (p.V87I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929844" "0" "30" "11" "22257740" "22257740" "subst" "0.00072859" "02326" "ANO5_000240" "g.22257740G>C" "" "" "" "ANO5(NM_001142649.1):c.677G>C (p.(Gly226Ala)), ANO5(NM_213599.2):c.680G>C (p.G227A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936155" "1" "70" "11" "22215078" "22215078" "subst" "0" "00006" "ANO5_000330" "g.22215078G>A" "" "{PMID:Cavdarli 2023:36575883}" "" "" "ACMG PM2 PP3 (strong) PM3" "Germline" "" "" "0" "" "" "g.22193532G>A" "" "likely pathogenic (recessive)" "ACMG" "0000936182" "21" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00006" "ANO5_000033" "g.22284590G>A" "" "{PMID:Cavdarli 2023:36575883}" "" "" "" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic" "" "0000936187" "0" "90" "11" "22248896" "22248896" "subst" "0" "00006" "ANO5_000331" "g.22248896G>T" "" "{PMID:Cavdarli 2023:36575883}" "" "" "" "Germline/De novo (untested)" "" "rs1554924356" "0" "" "" "g.22227350G>T" "" "pathogenic" "" "0000936193" "2" "70" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "" "{PMID:Cavdarli 2023:36575883}" "" "" "ACMG PM2 PP3 PP5 (strong)" "Germline" "" "rs137854523" "0" "" "" "g.22236206G>T" "" "likely pathogenic" "ACMG" "0000945972" "3" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000945973" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000945974" "3" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0000946045" "0" "50" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Westra 2019:31127727}" "" "" "no variant 2nd chromosome after targeted sequencing; no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.22221107dup" "" "VUS" "" "0000946046" "0" "50" "11" "22294472" "22294478" "del" "0" "00006" "ANO5_000127" "g.22294472_22294478del" "" "{PMID:Westra 2019:31127727}" "" "" "no variant 2nd chromosome; no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.22272926_22272932del" "" "VUS" "" "0000946155" "2" "90" "11" "22284590" "22284590" "subst" "0.000118037" "00006" "ANO5_000033" "g.22284590G>A" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.22263044G>A" "" "pathogenic (recessive)" "" "0000949642" "0" "30" "11" "22296135" "22296135" "subst" "0.00169022" "01804" "ANO5_000117" "g.22296135G>A" "" "" "" "ANO5(NM_001142649.1):c.2253G>A (p.(Thr751=)), ANO5(NM_213599.3):c.2256G>A (p.T752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966309" "0" "90" "11" "22283777" "22283777" "subst" "0.000211358" "02326" "ANO5_000031" "g.22283777T>C" "" "" "" "ANO5(NM_213599.2):c.1733T>C (p.F578S), ANO5(NM_213599.3):c.1733T>C (p.(Phe578Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000966310" "0" "30" "11" "22294441" "22294441" "subst" "0.000873238" "02326" "ANO5_000060" "g.22294441C>G" "" "" "" "ANO5(NM_001142649.1):c.2138C>G (p.(Thr713Ser)), ANO5(NM_213599.2):c.2141C>G (p.T714S), ANO5(NM_213599.3):c.2141C>G (p.T714S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979522" "0" "70" "11" "22239825" "22239825" "subst" "9.76173E-5" "01804" "ANO5_000039" "g.22239825C>T" "" "" "" "ANO5(NM_213599.3):c.172C>T (p.(Arg58Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979523" "0" "30" "11" "22247522" "22247522" "dup" "0" "01804" "ANO5_000088" "g.22247522dup" "" "" "" "ANO5(NM_213599.3):c.295-8dup, ANO5(NM_213599.3):c.295-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979524" "0" "50" "11" "22272542" "22272542" "subst" "4.09313E-6" "01804" "ANO5_000126" "g.22272542T>C" "" "" "" "ANO5(NM_213599.3):c.1165T>C (p.(Phe389Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979525" "0" "90" "11" "22276946" "22276946" "subst" "4.10277E-6" "02329" "ANO5_000046" "g.22276946C>T" "" "" "" "ANO5(NM_213599.3):c.1210C>T (p.R404*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979526" "0" "50" "11" "22283684" "22283684" "subst" "0.000146549" "01804" "ANO5_000193" "g.22283684G>A" "" "" "" "ANO5(NM_213599.3):c.1640G>A (p.(Arg547Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979527" "0" "50" "11" "22294470" "22294470" "subst" "4.06128E-6" "01804" "ANO5_000234" "g.22294470G>C" "" "" "" "ANO5(NM_213599.3):c.2170G>C (p.(Ala724Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979528" "0" "50" "11" "22296122" "22296122" "subst" "5.84532E-5" "01804" "ANO5_000332" "g.22296122T>G" "" "" "" "ANO5(NM_213599.3):c.2243T>G (p.(Ile748Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979529" "0" "50" "11" "22297728" "22297730" "del" "0" "02329" "ANO5_000121" "g.22297728_22297730del" "" "" "" "ANO5(NM_001142649.1):c.2499_2501del (p.(Phe834del)), ANO5(NM_213599.3):c.2503_2505delTTC (p.F835del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998952" "0" "30" "11" "22248927" "22248927" "subst" "0" "01804" "ANO5_000333" "g.22248927G>A" "" "" "" "ANO5(NM_213599.2):c.443G>A (p.(Gly148Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998953" "0" "50" "11" "22284589" "22284589" "subst" "4.06957E-6" "01804" "ANO5_000334" "g.22284589C>T" "" "" "" "ANO5(NM_213599.2):c.1898C>T (p.(Pro633Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998954" "0" "50" "11" "22291884" "22291884" "subst" "1.21845E-5" "01804" "ANO5_000335" "g.22291884G>A" "" "" "" "ANO5(NM_213599.2):c.1925G>A (p.(Arg642Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998955" "0" "70" "11" "22291922" "22291922" "subst" "4.06131E-6" "02327" "ANO5_000277" "g.22291922T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000998956" "0" "90" "11" "22296151" "22296151" "subst" "0.000580051" "01804" "ANO5_000006" "g.22296151C>T" "" "" "" "ANO5(NM_213599.2):c.2272C>T (p.(Arg758Cys)), ANO5(NM_213599.3):c.2272C>T (p.R758C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000998957" "0" "70" "11" "22296215" "22296215" "del" "0" "01804" "ANO5_000336" "g.22296215del" "" "" "" "ANO5(NM_213599.2):c.2336delA (p.(Asn779fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001011067" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Stehlikova 2014:25135358}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0001011068" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Stehlikova 2014:25135358}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0001011069" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Stehlikova 2014:25135358}" "" "" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0001011117" "1" "50" "11" "22271870" "22271870" "subst" "0.480109" "00006" "ANO5_000018" "g.22271870A>T" "" "{PMID:Stehlikova 2014:25135358}" "" "" "" "Germline" "" "" "0" "" "" "g.22250324A>T" "" "VUS" "" "0001011118" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Stehlikova 2014:25135358}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic (recessive)" "" "0001011119" "1" "90" "11" "22296151" "22296151" "subst" "0.000580051" "00006" "ANO5_000006" "g.22296151C>T" "" "{PMID:Stehlikova 2014:25135358}" "" "" "" "Germline" "" "" "0" "" "" "g.22274605C>T" "" "pathogenic (recessive)" "" "0001014783" "0" "30" "11" "22283860" "22283860" "subst" "0.000256569" "01804" "ANO5_000325" "g.22283860A>G" "" "" "" "ANO5(NM_001142649.1):c.1797+16A>G (p.(=)), ANO5(NM_213599.3):c.1800+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001017388" "0" "70" "11" "22294441" "22294441" "subst" "0.000873238" "03779" "ANO5_000060" "g.22294441C>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs200631556" "0" "" "" "" "" "likely pathogenic" "" "0001017389" "0" "50" "11" "22301308" "22301309" "del" "0" "03779" "ANO5_000337" "g.22301308_22301309del" "" "" "" "" "" "CLASSIFICATION record" "" "rs746934922" "0" "" "" "" "" "VUS" "" "0001021257" "1" "50" "11" "22239808" "22239808" "subst" "0.00213491" "00006" "ANO5_000048" "g.22239808A>G" "" "{PMID:Marti 2025:39666917}" "" "" "" "Germline" "" "" "0" "" "" "g.22218262A>G" "" "VUS" "" "0001021266" "3" "90" "11" "22257752" "22257752" "subst" "0.000964497" "00006" "ANO5_000005" "g.22257752G>T" "" "{PMID:Marti 2025:39666917}" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic (recessive)" "" "0001021271" "3" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Marti 2025:39666917}" "" "c.184_185insA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0001021274" "1" "90" "11" "22242653" "22242653" "dup" "0" "00006" "ANO5_000004" "g.22242653dup" "" "{PMID:Marti 2025:39666917}" "" "c.184_185insA" "" "Germline" "" "" "0" "" "" "g.22221107dup" "" "pathogenic (recessive)" "" "0001021286" "2" "90" "11" "22239825" "22239825" "subst" "9.76173E-5" "00006" "ANO5_000039" "g.22239825C>T" "" "{PMID:Marti 2025:39666917}" "" "" "" "Germline" "" "" "0" "" "" "g.22218279C>T" "" "pathogenic (recessive)" "" "0001021292" "2" "90" "11" "22232830" "22232831" "del" "0" "00006" "ANO5_000132" "g.22232830_22232831del" "" "{PMID:Marti 2025:39666917}" "" "c.103_104delAG" "" "Germline" "" "" "0" "" "" "g.22211284_22211285del" "" "pathogenic (recessive)" "" "0001038400" "0" "90" "11" "22281284" "22281284" "dup" "0" "01804" "ANO5_000061" "g.22281284dup" "" "" "" "ANO5(NM_213599.3):c.1627dup (p.(Met543AsnfsTer11))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038401" "0" "10" "11" "22281508" "22281508" "dup" "0" "02326" "ANO5_000338" "g.22281508dup" "" "" "" "ANO5(NM_213599.2):c.1630+221dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001038402" "0" "90" "11" "22283777" "22283777" "subst" "0.000211358" "01804" "ANO5_000031" "g.22283777T>C" "" "" "" "ANO5(NM_213599.2):c.1733T>C (p.F578S), ANO5(NM_213599.3):c.1733T>C (p.(Phe578Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038403" "0" "50" "11" "22283804" "22283804" "subst" "7.72439E-5" "01804" "ANO5_000200" "g.22283804G>A" "" "" "" "ANO5(NM_001142649.1):c.1757G>A (p.(Gly586Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038404" "0" "50" "11" "22301174" "22301175" "del" "0" "01804" "ANO5_000339" "g.22301174_22301175del" "" "" "" "ANO5(NM_213599.3):c.2605_2606del (p.(Lys869Valfs*9))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046306" "0" "50" "11" "22272376" "22272376" "subst" "4.47445E-5" "02327" "ANO5_000101" "g.22272376C>T" "" "" "" "ANO5(NM_213599.2):c.1103C>T (p.T368M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046943" "0" "90" "11" "22297723" "22297723" "subst" "0.000118116" "03779" "ANO5_000034" "g.22297723T>A" "" "" "" "" "" "Unknown" "" "rs142073798" "0" "" "" "" "" "pathogenic" "" "0001047478" "21" "50" "11" "22247867" "22247868" "del" "0" "04653" "ANO5_000340" "g.22247867_22247868del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22226321_22226322del" "" "VUS" "ACMG" "0001047479" "11" "90" "11" "22257752" "22257752" "subst" "0.000964497" "04653" "ANO5_000005" "g.22257752G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22236206G>T" "" "pathogenic" "ACMG" "0001047961" "3" "90" "11" "22283708" "22283708" "subst" "8.5361E-5" "00006" "ANO5_000071" "g.22283708G>T" "" "{PMID:Rini 2025:40870035}, {DOI:Rini 20251: 10.3390/genes16080987}" "" "" "" "Germline" "" "" "0" "" "" "g.22262162G>T" "" "pathogenic (recessive)" "" "0001047962" "3" "90" "11" "22297723" "22297723" "subst" "0.000118116" "00006" "ANO5_000034" "g.22297723T>A" "" "{PMID:Rini 2025:40870035}, {DOI:Rini 20251: 10.3390/genes16080987}" "" "" "" "Germline" "" "" "0" "" "" "g.22276177T>A" "" "pathogenic (recessive)" "" "0001048329" "0" "50" "11" "22248900" "22248900" "subst" "4.06904E-6" "00006" "ANO5_000341" "g.22248900T>C" "" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.22227354T>C" "VCV000594912.2" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ANO5 ## Count = 1122 "{{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}}" "0000097057" "00002584" "90" "242" "0" "242" "0" "c.242A>G" "r.(?)" "p.(Asp81Gly)" "5" "0000097058" "00002584" "90" "1202" "0" "1202" "0" "c.(1202G>Aˆ1203G>A)" "r.(?)" "p.(Trp401*)" "13" "0000118865" "00002584" "90" "1067" "0" "1067" "0" "c.1067G>A" "r.(?)" "p.(Asp81Gly)" "11" "0000118866" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000118867" "00002584" "90" "242" "0" "242" "0" "c.242A>G" "r.(?)" "p.(Asp81Gly)" "5" "0000118868" "00002584" "50" "1534" "0" "1534" "0" "c.1534A>G" "r.(?)" "p.(Ile512Val)" "13" "0000118869" "00002584" "50" "2141" "0" "2141" "0" "c.2141C>G" "r.(?)" "p.Thr714Ser)" "19" "0000118870" "00002584" "50" "2698" "0" "2698" "0" "c.2698A>Y" "r.(?)" "p.(Met900Leu)" "22" "0000118871" "00002584" "50" "2387" "0" "2387" "0" "c.2387C>T" "r.(?)" "p.(Ser796Leu)" "20" "0000118872" "00002584" "50" "1664" "0" "1664" "0" "c.1664G>T" "r.(?)" "p.(Ser555Ile)" "16" "0000126487" "00002584" "90" "1066" "0" "1066" "0" "c.1066T>C" "r.(?)" "p.(Cys356Arg)" "11" "0000126488" "00002584" "90" "1066" "0" "1066" "0" "c.1066T>G" "r.(?)" "p.(Cys356Gly)" "11" "0000126489" "00002584" "90" "1066" "0" "1066" "0" "c.1066T>G" "r.(?)" "p.(Cys356Gly)" "11" "0000126490" "00002584" "90" "1295" "0" "1295" "0" "c.1295C>G" "r.1295_1332del" "p.Ala432Glyfs*49" "13" "0000126491" "00002584" "90" "1295" "0" "1295" "0" "c.1295C>G" "r.1295_1332del" "p.Ala432Glyfs*49" "13" "0000126492" "00002584" "90" "1295" "0" "1295" "0" "c.1295C>G" "r.1295_1332del" "p.Ala432Glyfs*49" "13" "0000126493" "00002584" "90" "1295" "0" "1295" "0" "c.1295C>G" "r.1295_1332del" "p.Ala432Glyfs*49" "13" "0000126494" "00002584" "90" "1295" "0" "1295" "0" "c.1295C>G" "r.1295_1332del" "p.Ala432Glyfs*49" "13" "0000126495" "00002584" "90" "1295" "0" "1295" "0" "c.1295C>G" "r.1295_1332del" "p.Ala432Glyfs*49" "13" "0000126496" "00002584" "90" "1295" "0" "1295" "0" "c.1295C>G" "r.1295_1332del" "p.Ala432Glyfs*49" "13" "0000126497" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126498" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126499" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126500" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126501" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126502" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126503" "00002584" "50" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126504" "00002584" "50" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126505" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126506" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.191dup" "p.Asn64Lysfs*15" "5" "0000126507" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126508" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126509" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126510" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126511" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126512" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126513" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126514" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126515" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126516" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126517" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126518" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126519" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126520" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126521" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126522" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126523" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126524" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126525" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126526" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126527" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126528" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126529" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126530" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126531" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126532" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126533" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126534" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126535" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126536" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126537" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126538" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126539" "00002584" "90" "2018" "0" "2018" "0" "c.2018A>G" "r.(?)" "p.(Tyr673Cys)" "18" "0000126540" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126541" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126542" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126543" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126544" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126545" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126546" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126547" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126548" "00002584" "90" "1295" "0" "1295" "0" "c.1295C>G" "r.[1295_1332del, 1295_1630del]" "p.[Ala432Glyfs*49, Ala432_Met543del]" "13" "0000126549" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126550" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126551" "00002584" "50" "1203" "0" "1203" "0" "c.1203G>T" "r.(?)" "p.(Trp401Cys)" "13" "0000126552" "00002584" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "4" "0000126553" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126554" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "8" "0000126555" "00002584" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "4" "0000126556" "00002584" "70" "2498" "0" "2498" "0" "c.2498T>A" "r.(?)" "p.(Met833Lys)" "21" "0000126557" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126558" "00002584" "90" "2018" "0" "2018" "0" "c.2018A>G" "r.(?)" "p.(Tyr673Cys)" "18" "0000126559" "00002584" "90" "2018" "0" "2018" "0" "c.2018A>G" "r.(?)" "p.(Tyr673Cys)" "18" "0000126560" "00002584" "90" "2018" "0" "2018" "0" "c.2018A>G" "r.(?)" "p.(Tyr673Cys)" "18" "0000126561" "00002584" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "4" "0000126562" "00002584" "90" "1538" "0" "1538" "0" "c.1538C>T" "r.(?)" "p.(Thr513Ile)" "15" "0000126563" "00002584" "90" "1538" "0" "1538" "0" "c.1538C>T" "r.(?)" "p.(Thr513Ile)" "15" "0000126564" "00002584" "90" "1538" "0" "1538" "0" "c.1538C>T" "r.(?)" "p.(Thr513Ile)" "15" "0000126565" "00002584" "90" "1538" "0" "1538" "0" "c.1538C>T" "r.(?)" "p.(Thr513Ile)" "15" "0000126566" "00002584" "90" "1538" "0" "1538" "0" "c.1538C>T" "r.(?)" "p.(Thr513Ile)" "15" "0000126567" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" 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"p.(Ser796Leu)" "20" "0000126703" "00002584" "90" "1520" "0" "1520" "0" "c.1520del" "r.(?)" "p.(Phe507Serfs*6)" "15" "0000126704" "00002584" "90" "2018" "0" "2018" "0" "c.2018A>G" "r.(?)" "p.(Tyr673Cys)" "18" "0000126705" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126706" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126707" "00002584" "90" "1097" "0" "1097" "0" "c.1097A>G" "r.(?)" "p.(Asn366Ser)" "11" "0000126708" "00002584" "90" "1097" "0" "1097" "0" "c.1097A>G" "r.(?)" "p.(Asn366Ser)" "11" "0000126709" "00002584" "90" "1097" "0" "1097" "0" "c.1097A>G" "r.(?)" "p.(Asn366Ser)" "11" "0000126710" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126711" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126712" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126713" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126714" "00002584" "90" "2101" "0" "2101" "0" "c.2101A>G" "r.(?)" "p.(Asn701Asp)" "19" "0000126715" "00002584" "90" "242" "0" "242" "0" "c.242A>G" "r.(?)" "p.(Asp81Gly)" "5" "0000126716" "00002584" "90" "2311" "0" "2312" "0" "c.2311_2312del" "r.(?)" "p.(Gln771Alafs*8)" "20" "0000126717" "00002584" "90" "1407" "5" "1407" "5" "c.1407+5G>A" "r.1333_1407del" "p.Glu445_Trp469del" "14i" "0000126718" "00002584" "90" "1407" "5" "1407" "5" "c.1407+5G>A" "r.1333_1407del" "p.Glu445_Trp469del" "14i" "0000126719" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "8" "0000126720" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "8" "0000126721" "00002584" "90" "1627" "0" "1627" "0" "c.1627dup" "r.(?)" "p.(Met543Asnfs*11)" "15" "0000126722" "00002584" "90" "1520" "0" "1520" "0" "c.1520del" "r.(?)" "p.(Phe507Serfs*6)" "15" "0000126723" "00002584" "90" "1965" "0" "1965" "0" "c.1965G>C" "r.(?)" "p.(Trp655Cys)" "18" "0000126724" "00002584" "90" "295" "-1" "295" "-1" "c.295-1G>A" "r.spl" "p.?" "5i" "0000126725" "00002584" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "4" "0000126726" "00002584" "90" "1407" "5" "1407" "5" "c.1407+5G>A" "r.spl" "p.?" "14i" "0000126727" "00002584" "90" "1609" "0" "1609" "0" "c.1609T>C" "r.(?)" "p.(Ser537Pro)" "15" "0000126728" "00002584" "90" "1627" "0" "1627" "0" "c.1627dup" "r.(?)" "p.(Met543Asnfs*11)" "15" "0000126729" "00002584" "90" "1627" "0" "1627" "0" "c.1627dup" "r.(?)" "p.(Met543Asnfs*11)" "15" "0000126730" "00002584" "90" "2516" "0" "2516" "0" "c.2516T>G" "r.(?)" "p.(Met839Arg)" "21" "0000126731" "00002584" "90" "2516" "0" "2516" "0" "c.2516T>G" "r.(?)" "p.Met839Arg" "21" "0000126732" "00002584" "90" "397" "0" "397" "0" "c.397A>T" "r.(?)" "p.(Ile133Phe)" "7" "0000126733" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126734" "00002584" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "4" "0000126735" "00002584" "90" "2417" "0" "2417" "0" "c.2417A>G" "r.(?)" "p.(Tyr806Cys)" "21" "0000126736" "00002584" "90" "1627" "0" "1627" "0" "c.1627dup" "r.(?)" "p.(Met543Asnfs*11)" "15" "0000126737" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126738" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126739" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126740" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126741" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126742" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126743" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126744" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126745" "00002584" "90" "2311" "0" "2312" "0" "c.2311_2312del" "r.(?)" "p.(Gln771Alafs*8)" "20" "0000126746" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126747" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126748" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126749" "00002584" "50" "1203" "0" "1203" "0" "c.1203G>T" "r.(?)" "p.(Trp401Cys)" "13" "0000126750" "00002584" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "4" "0000126751" "00002584" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "4" "0000126752" "00002584" "70" "2498" "0" "2498" "0" "c.2498T>A" "r.(?)" "p.(Met833Lys)" "21" "0000126753" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126756" "00002584" "90" "1295" "0" "1295" "0" "c.1295C>G" "r.1295_1332del" "p.Ala432Glyfs*49" "13" "0000126757" "00002584" "90" "1295" "0" "1295" "0" "c.1295C>G" "r.1295_1332del" "p.Ala432Glyfs*49" "13" "0000126758" "00002584" "90" "1295" "0" "1295" "0" "c.1295C>G" "r.1295_1332del" "p.Ala432Glyfs*49" "13" "0000126759" "00002584" "90" "1295" "0" "1295" "0" "c.1295C>G" "r.1295_1332del" "p.Ala432Glyfs*49" "13" "0000126760" "00002584" "90" "1295" "0" "1295" "0" "c.1295C>G" "r.1295_1332del" "p.Ala432Glyfs*49" "13" "0000126761" "00002584" "90" "1295" "0" "1295" "0" "c.1295C>G" "r.1295_1332del" "p.Ala432Glyfs*49" "13" "0000126762" "00002584" "90" "1295" "0" "1295" "0" "c.1295C>G" "r.1295_1332del" "p.Ala432Glyfs*49" "13" "0000126763" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126764" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000126765" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126766" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126767" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126768" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126769" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126770" "00002584" "70" "1066" "0" "1066" "0" "c.1066T>C" "r.1066u>c" "p.Cys356Arg" "11" "0000126771" "00002584" "70" "1066" "0" "1066" "0" "c.1066T>G" "r.1066u>g" "p.Cys356Gly" "11" "0000126772" "00002584" "50" "-136" "0" "-136" "0" "c.-136G>C" "r.(?)" "p.(=)" "1" "0000126773" "00002584" "50" "-162" "0" "-162" "0" "c.-162A>G" "r.(?)" "p.(=)" "1" "0000126774" "00002584" "50" "1095" "0" "1095" "0" "c.1095A>G" "r.(?)" "p.(=)" "11" "0000126775" "00002584" "50" "138" "169" "138" "169" "c.138+169G>A" "r.(=)" "p.(=)" "3i" "0000126776" "00002584" "50" "138" "206" "138" "206" "c.138+206T>C" "r.(=)" "p.(=)" "3i" "0000126777" "00002584" "50" "1545" "0" "1545" "0" "c.1545A>G" "r.(?)" "p.(=)" "15" "0000126778" "00002584" "50" "1630" "181" "1630" "181" "c.1630+181A>G" "r.(=)" "p.(=)" "15i" "0000126779" "00002584" "50" "1630" "61" "1630" "61" "c.1630+61T>G" "r.(=)" "p.(=)" "15i" "0000126780" "00002584" "50" "180" "223" "180" "223" "c.180+223G>A" "r.(=)" "p.(=)" "4i" "0000126781" "00002584" "50" "2029" "147" "2029" "147" "c.2029+147A>G" "r.(=)" "p.(=)" "18i" "0000126782" "00002584" "50" "2520" "25" "2520" "25" "c.2520+25G>C" "r.(=)" "p.(=)" "21i" "0000126783" "00002584" "50" "2521" "-29" "2521" "-29" "c.2521-29G>A" "r.(=)" "p.(=)" "21i" "0000126784" "00002584" "50" "295" "-325" "295" "-325" "c.295-325A>G" "r.(=)" "p.(=)" "5i" "0000126785" "00002584" "50" "649" "-114" "649" "-114" "c.649-114T>G" "r.(=)" "p.(=)" "7i" "0000126786" "00002584" "50" "649" "-166" "649" "-166" "c.649-166A>G" "r.(=)" "p.(=)" "7i" "0000126787" "00002584" "50" "762" "87" "762" "87" "c.762+87G>A" "r.(=)" "p.(=)" "8i" "0000126788" "00002584" "50" "879" "-76" "879" "-76" "c.879-76T>A" "r.(=)" "p.(=)" "9i" "0000126789" "00002584" "90" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404*)" "13" "0000126790" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000126791" "00002584" "10" "2521" "-13" "2521" "-13" "c.2521-13A>G" "r.(?)" "p.(=)" "21i" "0000126792" "00002584" "10" "267" "0" "267" "0" "c.267T>C" "r.(?)" "p.(=)" "5" "0000126793" "00002584" "50" "364" "-8" "364" "-8" "c.364-8del" "r.(=)" "p.(=)" "6i" "0000126794" "00002584" "50" "41" "-1" "41" "-1" "c.41-1G>A" "r.spl" "p.?" "1i" "0000126795" "00002584" "10" "879" "-18" "879" "-18" "c.879-18T>C" "r.(?)" "p.(=)" "9i" "0000126796" "00002584" "10" "966" "0" "966" "0" "c.966A>T" "r.(?)" "p.(Leu322Phe)" "10" "0000246983" "00002584" "10" "2521" "-13" "2521" "-13" "c.2521-13A>G" "r.(=)" "p.(=)" "" "0000248639" "00002584" "10" "1545" "0" "1545" "0" "c.1545A>G" "r.(?)" "p.(Ser515=)" "" "0000248921" "00002584" "10" "616" "0" "616" "0" "c.616A>G" "r.(?)" "p.(Thr206Ala)" "" "0000249385" "00002584" "30" "129" "0" "129" "0" "c.129A>G" "r.(?)" "p.(Glu43=)" "" "0000249457" "00002584" "30" "1348" "0" "1348" "0" "c.1348A>T" "r.(?)" "p.(Met450Leu)" "" "0000249554" "00002584" "30" "1407" "19" "1407" "19" "c.1407+19A>T" "r.(=)" "p.(=)" "" "0000250984" "00002584" "10" "2521" "-13" "2521" "-13" "c.2521-13A>G" "r.(=)" "p.(=)" "" "0000257876" "00002584" "50" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Gln425Ter)" "" "0000257877" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl?" "p.?" "" "0000257879" "00002584" "10" "2236" "-13" "2236" "-10" "c.2236-13_2236-10del" "r.(=)" "p.(=)" "" "0000257880" "00002584" "10" "2236" "-10" "2236" "-10" "c.2236-10del" "r.(=)" "p.(=)" "" "0000257882" "00002584" "10" "267" "0" "267" "0" "c.267T>C" "r.(?)" "p.(Asp89=)" "" "0000257884" "00002584" "10" "364" "-8" "364" "-8" "c.364-8del" "r.(=)" "p.(=)" "" "0000257885" "00002584" "50" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Ser281Phe)" "" "0000257886" "00002584" "10" "879" "-18" "879" "-18" "c.879-18T>C" "r.(=)" "p.(=)" "" "0000258755" "00002584" "10" "267" "0" "267" "0" "c.267T>C" "r.(?)" "p.(Asp89=)" "" "0000259096" "00002584" "10" "180" "21" "180" "21" "c.180+21T>C" "r.(=)" "p.(=)" "" "0000259097" "00002584" "10" "2236" "-10" "2236" "-10" "c.2236-10del" "r.(=)" "p.(=)" "" "0000259098" "00002584" "10" "2236" "-13" "2236" "-10" "c.2236-13_2236-10del" "r.(=)" "p.(=)" "" "0000259099" "00002584" "10" "295" "-8" "295" "-8" "c.295-8dup" "r.(=)" "p.(=)" "" "0000259100" "00002584" "10" "364" "-8" "364" "-8" "c.364-8del" "r.(=)" "p.(=)" "" "0000259496" "00002584" "30" "1689" "0" "1689" "0" "c.1689T>C" "r.(?)" "p.(Phe563=)" "" "0000259497" "00002584" "30" "1818" "0" "1818" "0" "c.1818T>C" "r.(?)" "p.(Cys606=)" "" "0000259498" "00002584" "30" "2236" "-12" "2236" "-10" "c.2236-12_2236-10del" "r.(=)" "p.(=)" "" "0000259499" "00002584" "30" "2256" "0" "2256" "0" "c.2256G>A" "r.(?)" "p.(Thr752=)" "" "0000259500" "00002584" "30" "2414" "20" "2414" "23" "c.2414+20_2414+23del" "r.(=)" "p.(=)" "" "0000259501" "00002584" "30" "2622" "0" "2622" "0" "c.2622G>A" "r.(?)" "p.(Lys874=)" "" "0000259502" "00002584" "30" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Ala98=)" "" "0000259503" "00002584" "30" "553" "0" "553" "0" "c.553G>C" "r.(?)" "p.(Glu185Gln)" "" "0000259504" "00002584" "30" "720" "0" "720" "0" "c.720G>T" "r.(?)" "p.(Leu240=)" "" "0000259662" "00002584" "50" "1450" "0" "1450" "0" "c.1450C>T" "r.(?)" "p.(Arg484Cys)" "" "0000259663" "00002584" "50" "2521" "0" "2521" "0" "c.2521C>G" "r.(?)" "p.(His841Asp)" "" "0000259664" "00002584" "50" "265" "0" "265" "0" "c.265G>T" "r.(?)" "p.(Asp89Tyr)" "" "0000259665" "00002584" "50" "317" "0" "317" "0" "c.317C>A" "r.(?)" "p.(Thr106Asn)" "" "0000259724" "00002584" "70" "878" "3" "878" "6" "c.878+3_878+6del" "r.spl?" "p.?" "" "0000259728" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl?" "p.?" "" "0000259752" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0000259754" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000260992" "00002584" "90" "1103" "0" "1103" "0" "c.1103C>T" "r.(?)" "p.(Thr368Met)" "" "0000260994" "00002584" "30" "2236" "-10" "2236" "-10" "c.2236-10del" "r.(=)" "p.(=)" "" "0000260995" "00002584" "10" "267" "0" "267" "0" "c.267T>C" "r.(?)" "p.(Asp89=)" "" "0000260996" "00002584" "10" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Glu202Lys)" "" "0000322157" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0000322159" "00002584" "50" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Pro225Leu)" "" "0000322160" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000322162" "00002584" "50" "800" "0" "800" "0" "c.800C>G" "r.(?)" "p.(Thr267Ser)" "" "0000322163" "00002584" "50" "991" "0" "991" "0" "c.991T>A" "r.(?)" "p.(Ser331Thr)" "" "0000322164" "00002584" "70" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Ser500Phe)" "" "0000322165" "00002584" "30" "1545" "0" "1545" "0" "c.1545A>G" "r.(?)" "p.(Ser515=)" "" "0000322166" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl?" "p.?" "" "0000322168" "00002584" "30" "2236" "-10" "2236" "-10" "c.2236-10del" "r.(=)" "p.(=)" "" "0000322171" "00002584" "50" "2236" "-13" "2236" "-10" "c.2236-13_2236-10del" "r.(=)" "p.(=)" "" "0000322174" "00002584" "30" "2236" "-6" "2236" "-6" "c.2236-6C>T" "r.(=)" "p.(=)" "" "0000322176" "00002584" "30" "2387" "0" "2387" "0" "c.2387C>T" "r.(?)" "p.(Ser796Leu)" "" "0000322178" "00002584" "50" "2503" "0" "2505" "0" "c.2503_2505del" "r.(?)" "p.(Phe835del)" "" "0000322179" "00002584" "30" "2521" "-13" "2521" "-13" "c.2521-13A>G" "r.(=)" "p.(=)" "" "0000322180" "00002584" "30" "2698" "0" "2698" "0" "c.2698A>C" "r.(?)" "p.(Met900Leu)" "" "0000339687" "00002584" "10" "267" "0" "267" "0" "c.267T>C" "r.(?)" "p.(Asp89=)" "" "0000342830" "00002584" "90" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404Ter)" "" "0000343143" "00002584" "70" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "" "0000343341" "00002584" "70" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "" "0000345679" "00002584" "50" "377" "0" "377" "0" "c.377G>T" "r.(?)" "p.(Gly126Val)" "" "0000347109" "00002584" "10" "966" "0" "966" "0" "c.966A>T" "r.(?)" "p.(Leu322Phe)" "" "0000348037" "00002584" "50" "1165" "0" "1165" "0" "c.1165T>C" "r.(?)" "p.(Phe389Leu)" "" "0000349175" "00002584" "30" "2387" "0" "2387" "0" "c.2387C>T" "r.(?)" "p.(Ser796Leu)" "" "0000351049" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl?" "p.?" "" "0000398479" "00002584" "70" "242" "0" "242" "0" "c.242A>G" "r.(?)" "p.(Asp81Gly)" "" "0000398480" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "" "0000398481" "00002584" "70" "242" "0" "242" "0" "c.242A>G" "r.(?)" "p.(Asp81Gly)" "" "0000398482" "00002584" "90" "1203" "0" "1203" "0" "c.1203G>A" "r.(?)" "p.(Trp401*)" "" "0000439068" "00002584" "70" "2498" "0" "2498" "0" "c.2498T>A" "r.(?)" "p.Met833Lys" "" "0000439069" "00002584" "70" "1520" "0" "1520" "0" "c.1520del" "r.(?)" "p.Phe507Serfs*6" "" "0000440081" "00002584" "70" "1733" "0" "1733" "0" "c.1733T>C" "r.(?)" "p.Phe578Ser" "" "0000460212" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460213" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "8" "0000460214" "00002584" "90" "2521" "-1" "2521" "-1" "c.2521-1del" "r.spl" "p.?" "22" "0000460215" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460216" "00002584" "50" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Leu355Phe)" "11" "0000460217" "00002584" "50" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(Pro694Ser)" "19" "0000460218" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "17i" "0000460219" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460220" "00002584" "50" "1640" "0" "1640" "0" "c.1640G>A" "r.(?)" "p.(Arg547Gln)" "16" "0000460221" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460222" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000460223" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460224" "00002584" "50" "2144" "0" "2144" "0" "c.2144A>G" "r.(?)" "p.(Gln715Arg)" "19" "0000460225" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460226" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460227" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460228" "00002584" "50" "664" "0" "664" "0" "c.664T>C" "r.(?)" "p.(Ser222Pro)" "8" "0000460229" "00002584" "50" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "8" "0000460230" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460231" "00002584" "50" "185" "0" "185" "0" "c.185A>G" "r.(?)" "p.(Gln62Arg)" "5" "0000460232" "00002584" "50" "11" "0" "11" "0" "c.11C>G" "r.(?)" "p.(Pro4Arg)" "1" "0000460233" "00002584" "90" "1072" "0" "1072" "0" "c.1072C>T" "r.(?)" "p.(Gln358*)" "11" "0000460234" "00002584" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "4" "0000460235" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460236" "00002584" "50" "803" "0" "803" "0" "c.803A>G" "r.(?)" "p.(Asn268Ser)" "9" "0000460237" "00002584" "90" "2004" "0" "2004" "0" "c.2004del" "r.(?)" "p.(Leu669Phefs*6)" "18" "0000460238" "00002584" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "4" "0000460239" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "8" "0000460240" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460241" "00002584" "50" "2141" "0" "2141" "0" "c.2141C>G" "r.(?)" "p.(Thr714Ser)" "19" "0000460242" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000460243" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460244" "00002584" "50" "1664" "0" "1664" "0" "c.1664G>T" "r.(?)" "p.(Ser555Ile)" "16" "0000460245" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460246" "00002584" "50" "1563" "0" "1563" "0" "c.1563G>T" "r.(?)" "p.(Leu521Phe)" "15" "0000460247" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460248" "00002584" "50" "803" "0" "803" "0" "c.803A>G" "r.(?)" "p.(Asn268Ser)" "9" "0000460249" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460250" "00002584" "50" "1563" "0" "1563" "0" "c.1563G>T" "r.(?)" "p.(Leu521Phe)" "15" "0000460251" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460252" "00002584" "90" "989" "0" "989" "0" "c.989dup" "r.(?)" "p.(Leu330Phefs*6)" "10" "0000460253" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460254" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460255" "00002584" "50" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Gly308Glu)" "10" "0000460256" "00002584" "50" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Gly308Glu)" "10" "0000460257" "00002584" "50" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Cys369Tyr)" "11" "0000460258" "00002584" "50" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Cys369Tyr)" "11" "0000460259" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460260" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460261" "00002584" "50" "579" "0" "579" "0" "c.579A>T" "r.(?)" "p.(Arg193Ser)" "7" "0000460262" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460263" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460264" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460265" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "8" "0000460266" "00002584" "50" "1116" "0" "1116" "0" "c.1116A>G" "r.(?)" "p.(=)" "11" "0000460267" "00002584" "50" "331" "0" "331" "0" "c.331A>C" "r.(?)" "p.(Thr111Pro)" "6" "0000460268" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460269" "00002584" "50" "749" "0" "749" "0" "c.749A>G" "r.(?)" "p.(Tyr250Cys)" "8" "0000460270" "00002584" "50" "424" "0" "424" "0" "c.424A>T" "r.(?)" "p.(Thr142Ser)" "7" "0000460271" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460272" "00002584" "50" "2521" "0" "2521" "0" "c.2521C>G" "r.(?)" "p.(His841Asp)" "22" "0000460273" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "8" "0000460274" "00002584" "50" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Val415Met)" "13" "0000460275" "00002584" "50" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Val415Met)" "13" "0000460276" "00002584" "90" "304" "0" "308" "0" "c.304_308del" "r.(?)" "p.(Lys102Valfs*2)" "6" "0000460277" "00002584" "90" "989" "0" "989" "0" "c.989dup" "r.(?)" "p.(Leu330Phefs*6)" "10" "0000460278" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000460279" "00002584" "50" "1800" "5" "1800" "5" "c.1800+5G>A" "r.spl?" "p.?" "16" "0000460280" "00002584" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "4" "0000460281" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460282" "00002584" "50" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Gly348Ser)" "11" "0000460283" "00002584" "50" "2521" "0" "2521" "0" "c.2521C>G" "r.(?)" "p.(His841Asp)" "22" "0000460284" "00002584" "90" "41" "-1" "41" "-1" "c.41-1G>A" "r.spl" "p.?" "1i" "0000460285" "00002584" "50" "2141" "0" "2141" "0" "c.2141C>G" "r.(?)" "p.(Thr714Ser)" "19" "0000460286" "00002584" "90" "1733" "0" "1733" "0" "c.1733T>C" "r.(?)" "p.(Phe578Ser)" "16" "0000460287" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460288" "00002584" "50" "648" "5" "648" "5" "c.648+5G>C" "r.spl?" "p.?" "7i" "0000460289" "00002584" "50" "2503" "0" "2505" "0" "c.2503_2505del" "r.(?)" "p.(Phe835del)" "21" "0000460290" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460291" "00002584" "50" "2417" "0" "2417" "0" "c.2417A>G" "r.(?)" "p.(Tyr806Cys)" "21" "0000460292" "00002584" "50" "1736" "0" "1736" "0" "c.1736A>T" "r.(?)" 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"p.(Arg484Cys)" "15" "0000460453" "00002584" "50" "2141" "0" "2141" "0" "c.2141C>G" "r.(?)" "p.(Thr714Ser)" "19" "0000460454" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460455" "00002584" "50" "1692" "0" "1692" "0" "c.1692G>C" "r.(?)" "p.(Gln564His)" "16" "0000460456" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460457" "00002584" "90" "2470" "0" "2470" "0" "c.2470del" "r.(?)" "p.(Gln824Asnfs*10)" "21" "0000460458" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460459" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460460" "00002584" "50" "1640" "0" "1640" "0" "c.1640G>A" "r.(?)" "p.(Arg547Gln)" "16" "0000460461" "00002584" "50" "2610" "0" "2610" "0" "c.2610A>G" "r.(?)" "p.(=)" "22" "0000460462" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "17i" "0000460463" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460464" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460465" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000460466" "00002584" "50" "1880" "0" "1880" "0" "c.1880T>C" "r.(?)" "p.(Ile627Thr)" "17" "0000460467" "00002584" "50" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Asp230Gly)" "8" "0000460468" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "8" "0000460469" "00002584" "50" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Ala499Thr)" "15" "0000460470" "00002584" "50" "2141" "0" "2141" "0" "c.2141C>G" "r.(?)" "p.(Thr714Ser)" "19" "0000460471" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "8" "0000460472" "00002584" "90" "1627" "0" "1627" "0" "c.1627dup" "r.(?)" "p.(Met543Asnfs*11)" "15" "0000460473" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460474" "00002584" "50" "899" "0" "899" "0" "c.899T>A" "r.(?)" "p.(Ile300Asn)" "10" "0000460475" "00002584" "50" "1691" "0" "1691" "0" "c.1691A>T" "r.(?)" "p.(Gln564Leu)" "16" "0000460476" "00002584" "50" "170" "0" "170" "0" "c.170G>A" "r.(?)" "p.(Arg57Gln)" "4" "0000460477" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460478" "00002584" "50" "1265" "0" "1265" "0" "c.1265A>C" "r.(?)" "p.(Gln422Pro)" "13" "0000460479" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460480" "00002584" "50" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Arg50Gln)" "4" "0000460481" "00002584" "50" "2141" "0" "2141" "0" "c.2141C>G" "r.(?)" "p.(Thr714Ser)" "19" "0000460482" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460483" "00002584" "50" "1516" "0" "1516" "0" "c.1516A>G" "r.(?)" "p.(Ser506Gly)" "15" "0000460484" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460485" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "17i" "0000460486" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460487" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460488" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460489" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460490" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "8" "0000460491" "00002584" "50" "553" "0" "553" "0" "c.553G>C" "r.(?)" "p.(Glu185Gln)" "7" "0000460492" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460493" "00002584" "50" "2725" "0" "2725" "0" "c.2725G>A" "r.(?)" "p.(Ala909Thr)" "22" "0000460494" "00002584" "50" "1934" "0" "1934" "0" "c.1934G>A" "r.(?)" "p.(Arg645Gln)" "18" "0000460495" "00002584" "90" "2345" "0" "2345" "0" "c.2345C>G" "r.(?)" "p.(Ser782*)" "20" "0000460496" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "8" "0000460497" "00002584" "90" "1733" "0" "1733" "0" "c.1733T>C" "r.(?)" "p.(Phe578Ser)" "16" "0000460498" "00002584" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "4" "0000460499" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460500" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "20" "0000460501" "00002584" "90" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Gln403*)" "13" "0000460502" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460503" "00002584" "50" "1563" "0" "1563" "0" "c.1563G>T" "r.(?)" "p.(Leu521Phe)" "15" "0000460504" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460505" "00002584" "90" "2004" "0" "2004" "0" "c.2004del" "r.(?)" "p.(Leu669Phefs*6)" "18" "0000460506" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460507" "00002584" "50" "479" "0" "479" "0" "c.479G>A" "r.(?)" "p.(Arg160His)" "7" "0000460508" "00002584" "50" "1468" "0" "1468" "0" "c.1468A>G" "r.(?)" "p.(Thr490Ala)" "15" "0000460509" "00002584" "50" "1664" "0" "1664" "0" "c.1664G>T" "r.(?)" "p.(Ser555Ile)" "16" "0000460510" "00002584" "50" "2018" "0" "2018" "0" "c.2018A>G" "r.(?)" "p.(Tyr673Cys)" "18" "0000460511" "00002584" "50" "2348" "0" "2348" "0" "c.2348T>C" "r.(?)" "p.(Val783Ala)" "20" "0000460512" "00002584" "50" "2516" "0" "2516" "0" "c.2516T>C" "r.(?)" "p.(Met839Thr)" "21" "0000460513" "00002584" "50" "1888" "0" "1888" "0" "c.1888G>A" "r.(?)" "p.(Ala630Thr)" "17" "0000460514" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460515" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460516" "00002584" "90" "2498" "0" "2498" "0" "c.2498T>A" "r.(?)" "p.(Met833Lys)" "21" "0000460517" "00002584" "90" "762" "1" "762" "1" "c.762+1G>A" "r.spl" "p.?" "8i" "0000460518" "00002584" "50" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Leu273Phe)" "9" "0000460519" "00002584" "50" "797" "0" "797" "0" "c.797C>T" "r.(?)" "p.(Pro266Leu)" "9" "0000460520" "00002584" "50" "797" "0" "797" "0" "c.797C>T" "r.(?)" "p.(Pro266Leu)" "9" "0000460521" "00002584" "50" "797" "0" "797" "0" "c.797C>T" "r.(?)" "p.(Pro266Leu)" "9" "0000460522" "00002584" "90" "139" "-1" "139" "-1" "c.139-1del" "r.spl" "p.?" "3i" "0000460523" "00002584" "50" "815" "0" "815" "0" "c.815C>G" "r.(?)" "p.(Thr272Arg)" "9" "0000460524" "00002584" "90" "1627" "0" "1627" "0" "c.1627dup" "r.(?)" "p.(Met543Asnfs*11)" "15" "0000460525" "00002584" "50" "2141" "0" "2141" "0" "c.2141C>G" "r.(?)" "p.(Thr714Ser)" "19" "0000460526" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000460527" "00002584" "50" "385" "0" "385" "0" "c.385T>C" "r.(?)" "p.(Tyr129His)" "7" "0000460528" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "8" "0000460529" "00002584" "50" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Val319Ile)" "10" "0000460530" "00002584" "50" "415" "0" "415" "0" "c.415G>T" "r.(?)" "p.(Val139Leu)" "7" "0000470454" "00002584" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "" "0000470455" "00002584" "90" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Ser123Leu)" "" "0000470456" "00002584" "90" "2170" "0" "2170" "0" "c.2170G>C" "r.(?)" "p.(Ala724Pro)" "" "0000470457" "00002584" "90" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Ser123Leu)" "" "0000470458" "00002584" "90" "1166" "0" "1166" "0" "c.1166T>C" "r.(?)" "p.(Phe389Ser)" "" "0000470459" "00002584" "90" "1166" "0" "1166" "0" "c.1166T>C" "r.(?)" "p.(Phe389Ser)" "" "0000470460" "00002584" "90" "1879" "0" "1880" "0" "c.1879_1880del" "r.(?)" "p.(Ile627*)" "" "0000470461" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000470475" "00002584" "90" "1733" "0" "1733" "0" "c.1733T>C" "r.(?)" "p.(Phe578Ser)" "" "0000470476" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000470477" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000470478" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "" "0000470479" "00002584" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Gln423*)" "" "0000470480" "00002584" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Gln423*)" "" "0000470481" "00002584" "90" "1801" "0" "1801" "0" "c.1801T>G" "r.(?)" "p.(Cys601Gly)" "" "0000470482" "00002584" "90" "2521" "-1" "2521" "-1" "c.2521-1del" "r.spl?" "p.?" "" "0000543502" "00002584" "10" "-136" "0" "-136" "0" "c.-136G>C" "r.(?)" "p.(=)" "" "0000543505" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0000543506" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0000543507" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0000543509" "00002584" "30" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Val87Ile)" "" "0000543510" "00002584" "10" "295" "-8" "295" "-8" "c.295-8dup" "r.(=)" "p.(=)" "" "0000543511" "00002584" "90" "364" "-1" "364" "-1" "c.364-1G>A" "r.spl?" "p.?" "" "0000543513" "00002584" "30" "429" "0" "429" "0" "c.429T>C" "r.(?)" "p.(Tyr143=)" "" "0000543514" "00002584" "50" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Pro225Leu)" "" "0000543515" "00002584" "30" "680" "0" "680" "0" "c.680G>C" "r.(?)" "p.(Gly227Ala)" "" "0000543516" "00002584" "70" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000543517" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000543519" "00002584" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Ter)" "" "0000543520" "00002584" "30" "966" "0" "966" "0" "c.966A>G" "r.(?)" "p.(Leu322=)" "" "0000543521" "00002584" "10" "966" "0" "966" "0" "c.966A>T" "r.(?)" "p.(Leu322Phe)" "" "0000543522" "00002584" "10" "966" "0" "966" "0" "c.966A>T" "r.(?)" "p.(Leu322Phe)" "" "0000543523" "00002584" "10" "1545" "0" "1545" "0" "c.1545A>G" "r.(?)" "p.(Ser515=)" "" "0000543524" "00002584" "30" "1689" "0" "1689" "0" "c.1689T>C" "r.(?)" "p.(Phe563=)" "" "0000543525" "00002584" "70" "1733" "0" "1733" "0" "c.1733T>C" "r.(?)" "p.(Phe578Ser)" "" "0000543526" "00002584" "50" "2141" "0" "2141" "0" "c.2141C>G" "r.(?)" "p.(Thr714Ser)" "" "0000543527" "00002584" "50" "2141" "0" "2141" "0" "c.2141C>G" "r.(?)" "p.(Thr714Ser)" "" "0000543528" "00002584" "30" "2235" "8" "2235" "8" "c.2235+8G>A" "r.(=)" "p.(=)" "" "0000543529" "00002584" "10" "2236" "-10" "2236" "-10" "c.2236-10dup" "r.(=)" "p.(=)" "" "0000543531" "00002584" "30" "2354" "0" "2354" "0" "c.2354T>G" "r.(?)" "p.(Leu785Arg)" "" "0000543532" "00002584" "50" "2387" "0" "2387" "0" "c.2387C>T" "r.(?)" "p.(Ser796Leu)" "" "0000543533" "00002584" "10" "2387" "0" "2387" "0" "c.2387C>T" "r.(?)" "p.(Ser796Leu)" "" "0000543534" "00002584" "30" "2387" "0" "2387" "0" "c.2387C>T" "r.(?)" "p.(Ser796Leu)" "" "0000543535" "00002584" "30" "2396" "0" "2396" "0" "c.2396G>A" "r.(?)" "p.(Arg799Gln)" "" "0000543536" "00002584" "30" "2415" "-21" "2415" "-19" "c.2415-21_2415-19del" "r.(=)" "p.(=)" "" "0000543538" "00002584" "50" "2698" "0" "2698" "0" "c.2698A>C" "r.(?)" "p.(Met900Leu)" "" "0000543539" "00002584" "30" "2698" "0" "2698" "0" "c.2698A>C" "r.(?)" "p.(Met900Leu)" "" "0000543540" "00002584" "30" "2698" "0" "2698" "0" "c.2698A>C" "r.(?)" "p.(Met900Leu)" "" "0000543541" "00002584" "30" "2698" "0" "2698" "0" "c.2698A>C" "r.(?)" "p.(Met900Leu)" "" "0000597493" "00002584" "70" "180" "2" "180" "2" "c.180+2T>C" "r.spl" "p.?" "" "0000597588" "00002584" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "" "0000598354" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000598355" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.(?)" "" "0000613248" "00002584" "30" "41" "-15" "41" "-12" "c.41-15_41-12del" "r.(=)" "p.(=)" "" "0000613249" "00002584" "30" "129" "0" "129" "0" "c.129A>G" "r.(?)" "p.(Glu43=)" "" "0000613250" "00002584" "50" "170" "0" "170" "0" "c.170G>A" "r.(?)" "p.(Arg57Gln)" "" "0000613251" "00002584" "30" "581" "0" "581" "0" "c.581A>G" "r.(?)" "p.(His194Arg)" "" "0000613252" "00002584" "50" "1211" "0" "1211" "0" "c.1211G>A" "r.(?)" "p.(Arg404Gln)" "" "0000613253" "00002584" "50" "1391" "0" "1391" "0" "c.1391C>A" "r.(?)" "p.(Ala464Asp)" "" "0000613254" "00002584" "30" "2141" "0" "2141" "0" "c.2141C>G" "r.(?)" "p.(Thr714Ser)" "" "0000613255" "00002584" "30" "2396" "0" "2396" "0" "c.2396G>A" "r.(?)" "p.(Arg799Gln)" "" "0000613256" "00002584" "30" "2622" "0" "2622" "0" "c.2622G>A" "r.(?)" "p.(Lys874=)" "" "0000622614" "00002584" "10" "267" "0" "267" "0" "c.267T>C" "r.(?)" "p.(Asp89=)" "" "0000622615" "00002584" "10" "966" "0" "966" "0" "c.966A>T" "r.(?)" "p.(Leu322Phe)" "" "0000622616" "00002584" "10" "2236" "-13" "2236" "-10" "c.2236-13_2236-10del" "r.(=)" "p.(=)" "" "0000622617" "00002584" "50" "2446" "0" "2446" "0" "c.2446G>A" "r.(?)" "p.(Glu816Lys)" "" "0000629476" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000629477" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000629478" "00002584" "90" "2235" "5" "2235" "5" "c.2235+5G>A" "r.spl" "p.?" "" "0000629479" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000629480" "00002584" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279*)" "" "0000646952" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "17i" "0000648201" "00002584" "50" "155" "0" "155" "0" "c.155A>G" "r.(?)" "p.(Asn52Ser)" "" "0000648202" "00002584" "70" "1733" "0" "1733" "0" "c.1733T>C" "r.(?)" "p.(Phe578Ser)" "" "0000648203" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl?" "p.?" "" "0000648204" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "" "0000648205" "00002584" "30" "2387" "0" "2387" "0" "c.2387C>T" "r.(?)" "p.(Ser796Leu)" "" "0000648206" "00002584" "10" "2521" "-13" "2521" "-13" "c.2521-13A>G" "r.(=)" "p.(=)" "" "0000648207" "00002584" "50" "3672" "0" "3672" "0" "c.*930C>T" "r.(=)" "p.(=)" "" "0000648208" "00002584" "50" "5897" "0" "5897" "0" "c.*3155T>C" "r.(=)" "p.(=)" "" "0000653242" "00002584" "30" "2175" "0" "2175" "0" "c.2175T>C" "r.(=)" "p.(=)" "" "0000656759" "00002584" "50" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Glu155Lys)" "" "0000656760" "00002584" "30" "1304" "0" "1304" "0" "c.1304A>G" "r.(?)" "p.(Lys435Arg)" "" "0000656761" "00002584" "50" "1450" "0" "1450" "0" "c.1450C>T" "r.(?)" "p.(Arg484Cys)" "" "0000656762" "00002584" "50" "1955" "0" "1955" "0" "c.1955A>G" "r.(?)" "p.(Tyr652Cys)" "" "0000665977" "00002584" "70" "1520" "0" "1520" "0" "c.1520del" "r.(?)" "p.(Phe507Serfs*6)" "" "0000665978" "00002584" "70" "1627" "0" "1627" "0" "c.1627dup" "r.(?)" "p.(Met543Asnfs*11)" "" "0000667408" "00002584" "50" "1061" "0" "1061" "0" "c.1061C>A" "r.(?)" "p.(Pro354Gln)" "" "0000669117" "00002584" "10" "2521" "-13" "2521" "-13" "c.2521-13A>G" "r.(=)" "p.(=)" "" "0000670815" "00002584" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50*)" "" "0000670897" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000679145" "00002584" "30" "1516" "0" "1516" "0" "c.1516A>G" "r.(?)" "p.(Ser506Gly)" "" "0000679146" "00002584" "50" "1747" "0" "1747" "0" "c.1747G>A" "r.(?)" "p.(Val583Ile)" "" "0000679147" "00002584" "90" "2145" "0" "2145" "0" "c.2145del" "r.(?)" "p.(Gln715HisfsTer6)" "" "0000679148" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "" "0000679149" "00002584" "30" "2521" "-7" "2521" "-7" "c.2521-7C>T" "r.(=)" "p.(=)" "" "0000691031" "00002584" "30" "138" "9" "138" "9" "c.138+9C>T" "r.(=)" "p.(=)" "" "0000691032" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl?" "p.?" "" "0000691033" "00002584" "30" "2141" "0" "2141" "0" "c.2141C>G" "r.(?)" "p.(Thr714Ser)" "" "0000691034" "00002584" "30" "2403" "0" "2403" "0" "c.2403C>T" "r.(?)" "p.(Phe801=)" "" "0000694687" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000694688" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000694689" "00002584" "70" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000694690" "00002584" "70" "-317" "0" "648" "1" "c.-317_(648+1_649-1)del" "r.0?" "p.0?" "_1_7i" "0000694691" "00002584" "70" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "" "0000694692" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "17i" "0000694693" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "17i" "0000694694" "00002584" "90" "1181" "-1811" "1898" "2287" "c.1181-1811_1898+2287del" "r.(?)" "p.(Val394Alafs*4)" "12i_17i" "0000694731" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000694732" "00002584" "90" "1733" "0" "1733" "0" "c.1733T>C" "r.(?)" "p.(Phe578Ser)" "" "0000694733" "00002584" "90" "2004" "0" "2004" "0" "c.2004del" "r.(?)" "p.(Leu669Phefs*6)" "" "0000694734" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000694735" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000694736" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000694737" "00002584" "90" "2004" "0" "2004" "0" "c.2004del" "r.(?)" "p.(Leu669Phefs*6)" "" "0000694738" "00002584" "90" "2018" "0" "2018" "0" "c.2018A>G" "r.(?)" "p.(Tyr673Cys)" "" "0000694739" "00002584" "90" "1803" "0" "1803" "0" "c.1803T>A" "r.(?)" "p.(Cys601*)" "" "0000694740" "00002584" "90" "" "0" "" "0" "c.-317_*3602{0}" "r.0" "p.0" "_1_22_" "0000694741" "00002584" "90" "2498" "0" "2498" "0" "c.2498T>A" "r.(?)" "p.(Met833Lys)" "" "0000694742" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000694743" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000694744" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000696747" "00002584" "70" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000696768" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696769" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696770" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696782" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "" "0000696783" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000696879" "00002584" "90" "397" "0" "397" "0" "c.397A>T" "r.(?)" "p.(Ile133Phe)" "7" "0000696880" "00002584" "90" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Arg74*)" "5" "0000696881" "00002584" "90" "1627" "0" "1627" "0" "c.1627dup" "r.(?)" "p.(Met543Asnfs*11)" "15" "0000696882" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000696883" "00002584" "90" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Leu273Phe)" "9" "0000696928" "00002584" "90" "1609" "0" "1609" "0" "c.1609T>C" "r.(?)" "p.(Ser537Pro)" "15" "0000696929" "00002584" "90" "2516" "0" "2516" "0" "c.2516T>G" "r.(?)" "p.(Met839Arg)" "21" "0000696930" "00002584" "90" "2387" "0" "2387" "0" "c.2387C>T" "r.(?)" "p.(Ser796Leu)" "20" "0000696964" "00002584" "90" "41" "-1" "41" "-1" "c.41-1G>A" "r.spl" "p.?" "" "0000696965" "00002584" "90" "87" "0" "87" "0" "c.87G>A" "r.spl" "p.?" "" "0000696966" "00002584" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50*)" "" "0000696967" "00002584" "90" "155" "0" "155" "0" "c.155A>G" "r.(?)" "p.(Asn52Ser)" "" "0000696968" "00002584" "90" "155" "0" "155" "0" "c.155A>G" "r.(?)" "p.(Asn52Ser)" "" "0000696969" "00002584" "90" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57Trp)" "" "0000696970" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696971" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696972" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696973" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696974" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696975" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696976" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696977" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696978" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696979" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696980" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696981" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696982" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696983" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696984" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696985" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696986" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696987" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696988" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696989" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696990" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696991" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696992" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696993" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696994" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696995" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696996" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696997" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696998" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000696999" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000697000" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000697001" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000697002" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000697003" "00002584" "90" "274" "0" "274" "0" "c.274A>T" "r.(?)" "p.(Lys92*)" "" "0000697004" "00002584" "90" "377" "0" "377" "0" "c.377G>T" "r.(?)" "p.(Gly126Val)" "" "0000697005" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000697006" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000697007" "00002584" "90" "902" "0" "902" "0" "c.902G>T" "r.(?)" "p.(Gly301Val)" "" "0000697008" "00002584" "90" "1332" "1" "1332" "1" "c.1332+1G>C" "r.spl" "p.?" "" "0000697009" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697010" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697011" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697012" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697013" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697014" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697015" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697016" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697017" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697018" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697019" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697020" "00002584" "90" "2498" "0" "2498" "0" "c.2498T>A" "r.(?)" "p.(Met833Lys)" "" "0000697021" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697022" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000697023" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697024" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697025" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000697026" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000697027" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000697028" "00002584" "90" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Leu273Phe)" "" "0000697029" "00002584" "90" "1103" "0" "1103" "0" "c.1103C>T" "r.(?)" "p.(Thr368Met)" "" "0000697030" "00002584" "90" "1332" "0" "1332" "0" "c.1332G>A" "r.spl" "p.?" "" "0000697031" "00002584" "90" "1627" "0" "1627" "0" "c.1627dup" "r.(?)" "p.(Met543Asnfs*11)" "" "0000697032" "00002584" "90" "1640" "0" "1640" "0" "c.1640G>A" "r.(?)" "p.(Arg547Gln)" "" "0000697033" "00002584" "90" "1640" "0" "1640" "0" "c.1640G>A" "r.(?)" "p.(Arg547Gln)" "" "0000697034" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697035" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697036" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697037" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697038" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697039" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697040" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697041" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697042" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697043" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697044" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697045" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697046" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697047" "00002584" "90" "1955" "0" "1955" "0" "c.1955A>G" "r.(?)" "p.(Tyr652Cys)" "" "0000697048" "00002584" "90" "1955" "0" "1955" "0" "c.1955A>G" "r.(?)" "p.(Tyr652Cys)" "" "0000697049" "00002584" "90" "1963" "0" "1963" "0" "c.1963T>C" "r.(?)" "p.(Trp655Arg)" "" "0000697050" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697051" "00002584" "90" "2433" "0" "2433" "0" "c.2433T>A" "r.(?)" "p.(Tyr811*)" "" "0000697052" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697053" "00002584" "90" "2583" "0" "2585" "0" "c.2583_2585del" "r.(?)" "p.(Val862del)" "" "0000697054" "00002584" "90" "1391" "0" "1391" "0" "c.1391C>A" "r.(?)" "p.(Ala464Asp)" "" "0000697289" "00002584" "70" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000697290" "00002584" "70" "1627" "0" "1627" "0" "c.1627dup" "r.(?)" "p.(Met543Asnfs*11)" "" "0000697291" "00002584" "70" "1924" "0" "1924" "0" "c.1924C>T" "r.(?)" "p.(Arg642*)" "" "0000697292" "00002584" "70" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "" "0000697293" "00002584" "70" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Arg74*)" "" "0000697294" "00002584" "70" "364" "-2" "364" "-2" "c.364-2A>G" "r.spl" "p.?" "" "0000697295" "00002584" "70" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000697296" "00002584" "70" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Gly255Asp)" "" "0000697297" "00002584" "70" "2222" "0" "2222" "0" "c.2222C>A" "r.(?)" "p.(Ser741Tyr)" "" "0000697298" "00002584" "70" "2411" "0" "2411" "0" "c.2411G>C" "r.(?)" "p.(Cys804Ser)" "" "0000697299" "00002584" "70" "2498" "0" "2498" "0" "c.2498T>A" "r.(?)" "p.(Met833Lys)" "" "0000697300" "00002584" "70" "69" "0" "69" "0" "c.69C>A" "r.(?)" "p.(Tyr23*)" "" "0000697301" "00002584" "70" "395" "0" "395" "0" "c.395A>T" "r.(?)" "p.(Lys132Met)" "" "0000697302" "00002584" "70" "649" "-2" "649" "-2" "c.649-2A>G" "r.spl" "p.?" "" "0000697303" "00002584" "70" "749" "0" "749" "0" "c.749A>G" "r.(?)" "p.(Tyr250Cys)" "" "0000697304" "00002584" "70" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Leu273Phe)" "" "0000697305" "00002584" "70" "898" "0" "898" "0" "c.898dup" "r.(?)" "p.(Ile300Asnfs*36)" "" "0000697306" "00002584" "70" "1119" "1" "1119" "1" "c.1119+1G>T" "r.spl" "p.?" "" "0000697307" "00002584" "70" "1180" "6" "1180" "6" "c.1180+6T>C" "r.spl?" "p.?" "" "0000697308" "00002584" "70" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404*)" "" "0000697309" "00002584" "70" "1211" "0" "1211" "0" "c.1211G>A" "r.(?)" "p.(Arg404Gln)" "" "0000697310" "00002584" "70" "1407" "5" "1407" "5" "c.1407+5G>A" "r.spl?" "p.?" "" "0000697311" "00002584" "70" "1439" "0" "1439" "0" "c.1439T>G" "r.(?)" "p.(Val480Gly)" "" "0000697312" "00002584" "70" "1520" "0" "1520" "0" "c.1520del" "r.(?)" "p.(Phe507Serfs*6)" "" "0000697313" "00002584" "70" "1664" "0" "1664" "0" "c.1664G>T" "r.(?)" "p.(Ser555Ile)" "" "0000697314" "00002584" "70" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000697315" "00002584" "70" "1983" "0" "1983" "0" "c.1983del" "r.(?)" "p.(Glu662Lysfs*13)" "" "0000697316" "00002584" "70" "1982" "0" "1982" "0" "c.1982T>C" "r.(?)" "p.(Leu661Pro)" "" "0000697317" "00002584" "70" "2012" "0" "2012" "0" "c.2012A>G" "r.(?)" "p.(Tyr671Cys)" "" "0000697318" "00002584" "70" "2494" "0" "2494" "0" "c.2494A>G" "r.(?)" "p.(Lys832Glu)" "" "0000697319" "00002584" "70" "2521" "-1" "2521" "-1" "c.2521-1del" "r.spl" "p.?" "" "0000697320" "00002584" "70" "2521" "0" "2521" "0" "c.2521C>G" "r.(?)" "p.(His841Asp)" "" "0000697321" "00002584" "70" "2636" "0" "2636" "0" "c.2636T>C" "r.(?)" "p.(Phe879Ser)" "" "0000708793" "00002584" "70" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Arg195Trp)" "" "0000723368" "00002584" "30" "9" "0" "9" "0" "c.9C>G" "r.(?)" "p.(Asp3Glu)" "" "0000723369" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0000723370" "00002584" "30" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Cys)" "" "0000723371" "00002584" "50" "619" "0" "619" "0" "c.619T>G" "r.(?)" "p.(Phe207Val)" "" "0000723372" "00002584" "50" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Pro263Leu)" "" "0000723373" "00002584" "50" "1733" "0" "1733" "0" "c.1733T>C" "r.(?)" "p.(Phe578Ser)" "" "0000723374" "00002584" "10" "2236" "-10" "2236" "-10" "c.2236-10dup" "r.(=)" "p.(=)" "" "0000723375" "00002584" "50" "2607" "0" "2607" "0" "c.2607G>C" "r.(?)" "p.(Lys869Asn)" "" "0000723376" "00002584" "50" "2698" "0" "2698" "0" "c.2698A>C" "r.(?)" "p.(Met900Leu)" "" "0000763583" "00002584" "90" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57Trp)" "4" "0000786736" "00002584" "70" "1733" "0" "1733" "0" "c.1733T>C" "r.(?)" "p.(Phe578Ser)" "16" "0000790067" "00002584" "50" "2285" "0" "2285" "0" "c.2285A>G" "r.(?)" "p.(Tyr762Cys)" "" "0000790068" "00002584" "50" "2503" "0" "2505" "0" "c.2503_2505del" "r.(?)" "p.(Phe835del)" "" "0000805065" "00002584" "30" "185" "0" "185" "0" "c.185A>G" "r.(?)" "p.(Gln62Arg)" "" "0000805066" "00002584" "30" "1050" "0" "1050" "0" "c.1050G>C" "r.(?)" "p.(Met350Ile)" "" "0000819177" "00002584" "90" "1406" "0" "1406" "0" "c.1406G>A" "r.(?)" "p.(Trp469Ter)" "" "0000819178" "00002584" "70" "2141" "0" "2144" "0" "c.2141_2144dup" "r.(?)" "p.(Gln715HisfsTer10)" "" "0000819179" "00002584" "90" "1406" "0" "1406" "0" "c.1406G>A" "r.(?)" "p.(Trp469Ter)" "" "0000819287" "00002584" "90" "1406" "0" "1406" "0" "c.1406G>A" "r.(?)" "p.(Trp469*)" "" "0000823960" "00002584" "50" "2387" "0" "2387" "0" "c.2387C>T" "r.(?)" "p.(Ser796Leu)" "20" "0000823986" "00002584" "50" "827" "0" "827" "0" "c.827A>T" "r.(?)" "p.(Asn276Ile)" "9" "0000825391" "00002584" "90" "2201" "0" "2201" "0" "c.2201T>C" "r.(?)" "p.(Leu734Pro)" "" "0000829347" "00002584" "50" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Leu876Phe)" "" "0000833008" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000833009" "00002584" "70" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000833010" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000833011" "00002584" "70" "2521" "0" "2521" "0" "c.2521C>G" "r.(?)" "p.(His841Asp)" "" "0000833012" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "5" "0000833013" "00002584" "70" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000833121" "00002584" "70" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0000833146" "00002584" "70" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0000833161" "00002584" "70" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0000833163" "00002584" "70" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000833189" "00002584" "70" "2141" "0" "2141" "0" "c.2141C>G" "r.(?)" "p.(Thr714Ser)" "" "0000833199" "00002584" "70" "2521" "0" "2521" "0" "c.2521C>G" "r.(?)" "p.(His841Asp)" "" "0000833203" "00002584" "70" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000833204" "00002584" "70" "1119" "1" "1119" "1" "c.1119+1G>T" "r.spl" "p.?" "" "0000839165" "00002584" "70" "2201" "0" "2201" "0" "c.2201T>C" "r.(?)" "p.(Leu734Pro)" "19" "0000852855" "00002584" "30" "2029" "20" "2029" "20" "c.2029+20T>A" "r.(=)" "p.(=)" "" "0000852856" "00002584" "10" "2236" "-10" "2236" "-10" "c.2236-10dup" "r.(=)" "p.(=)" "" "0000852857" "00002584" "10" "2256" "0" "2256" "0" "c.2256G>A" "r.(?)" "p.(Thr752=)" "" "0000852858" "00002584" "10" "2387" "0" "2387" "0" "c.2387C>T" "r.(?)" "p.(Ser796Leu)" "" "0000852859" "00002584" "10" "2646" "0" "2646" "0" "c.2646C>G" "r.(?)" "p.(Asn882Lys)" "" "0000862480" "00002584" "30" "185" "0" "185" "0" "c.185A>G" "r.(?)" "p.(Gln62Arg)" "" "0000862481" "00002584" "30" "468" "0" "468" "0" "c.468T>C" "r.(?)" "p.(Ser156=)" "" "0000862482" "00002584" "10" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Glu202Lys)" "" "0000862483" "00002584" "50" "762" "5" "762" "5" "c.762+5G>T" "r.spl?" "p.?" "" "0000862484" "00002584" "30" "1095" "0" "1095" "0" "c.1095A>G" "r.(?)" "p.(Leu365=)" "" "0000862485" "00002584" "70" "1333" "-2" "1333" "-2" "c.1333-2A>C" "r.spl?" "p.?" "" "0000862486" "00002584" "50" "1601" "0" "1601" "0" "c.1601A>T" "r.(?)" "p.(Glu534Val)" "" "0000862487" "00002584" "30" "2360" "0" "2360" "0" "c.2360C>T" "r.(?)" "p.(Ala787Val)" "" "0000862488" "00002584" "50" "2600" "0" "2600" "0" "c.2600G>T" "r.(?)" "p.(Arg867Ile)" "" "0000869041" "00002584" "70" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Gln405Ter)" "" "0000869094" "00002584" "70" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0000870229" "00002584" "70" "2317" "0" "2317" "0" "c.2317A>G" "r.(?)" "p.(Met773Val)" "" "0000871446" "00002584" "10" "1387" "0" "1387" "0" "c.1387G>A" "r.(?)" "p.(Gly463Arg)" "15" "0000871877" "00002584" "50" "191" "0" "191" "0" "c.191dupA" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000871969" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64Lysfs*15)" "" "0000872012" "00002584" "70" "2201" "0" "2201" "0" "c.2201T>C" "r.(?)" "p.(Leu734Pro)" "19" "0000876274" "00002584" "70" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000881137" "00002584" "70" "2498" "0" "2498" "0" "c.2498T>A" "r.(?)" "p.(Met833Lys)" "" "0000881257" "00002584" "90" "1520" "0" "1520" "0" "c.1520del" "r.(?)" "p.(Phe507Serfs*6)" "" "0000881258" "00002584" "90" "1627" "0" "1627" "0" "c.1627dup" "r.(?)" "p.(Met543AsnfsTer11)" "" "0000881259" "00002584" "70" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000881260" "00002584" "70" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "" "0000881351" "00002584" "90" "181" "-1" "294" "1" "c.(180+1_181-1)_(294+1_295-1)del" "r.?" "p.?" "4i_5i" "0000881352" "00002584" "70" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "" "0000881353" "00002584" "70" "709" "0" "709" "0" "c.709A>G" "r.(?)" "p.(Ile237Val)" "" "0000881354" "00002584" "90" "181" "-1" "294" "1" "c.(180+1_181-1)_(294+1_295-1)del" "r.?" "p.?" "4i_5i" "0000889761" "00002584" "30" "138" "10" "138" "10" "c.138+10G>A" "r.(=)" "p.(=)" "" "0000889762" "00002584" "10" "138" "169" "138" "169" "c.138+169G>A" "r.(=)" "p.(=)" "" "0000889763" "00002584" "10" "139" "-164" "139" "-164" "c.139-164del" "r.(=)" "p.(=)" "" "0000889765" "00002584" "30" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Glu202Lys)" "" "0000889767" "00002584" "50" "1081" "0" "1081" "0" "c.1081G>A" "r.(?)" "p.(Asp361Asn)" "" "0000889768" "00002584" "50" "1201" "0" "1201" "0" "c.1201T>C" "r.(?)" "p.(Trp401Arg)" "" "0000889769" "00002584" "30" "1348" "0" "1348" "0" "c.1348A>T" "r.(?)" "p.(Met450Leu)" "" "0000889770" "00002584" "30" "1722" "0" "1722" "0" "c.1722C>T" "r.(?)" "p.(Tyr574=)" "" "0000889771" "00002584" "30" "1800" "16" "1800" "16" "c.1800+16A>G" "r.(=)" "p.(=)" "" "0000889772" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl?" "p.?" "" "0000889773" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl?" "p.?" "" "0000889774" "00002584" "10" "2236" "-10" "2236" "-10" "c.2236-10del" "r.(=)" "p.(=)" "" "0000889775" "00002584" "10" "2259" "0" "2259" "0" "c.2259A>G" "r.(?)" "p.(Ser753=)" "" "0000889776" "00002584" "10" "2415" "-22" "2415" "-22" "c.2415-22del" "r.(=)" "p.(=)" "" "0000889777" "00002584" "10" "2854" "0" "2855" "0" "c.*112_*113del" "r.(=)" "p.(=)" "" "0000889778" "00002584" "10" "2855" "0" "2855" "0" "c.*113del" "r.(?)" "p.(=)" "" "0000913552" "00002584" "30" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Leu241=)" "" "0000913553" "00002584" "50" "2236" "-10" "2236" "-10" "c.2236-10dup" "r.(=)" "p.(=)" "" "0000913554" "00002584" "50" "2521" "-7" "2521" "-7" "c.2521-7C>T" "r.(=)" "p.(=)" "" "0000913555" "00002584" "10" "2646" "0" "2646" "0" "c.2646C>G" "r.(?)" "p.(Asn882Lys)" "" "0000913556" "00002584" "30" "2646" "0" "2646" "0" "c.2646C>G" "r.(?)" "p.(Asn882Lys)" "" "0000917150" "00002584" "70" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Gly14Arg)" "" "0000917177" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000917182" "00002584" "90" "412" "0" "412" "0" "c.412G>T" "r.(?)" "p.(Glu138Ter)" "" "0000917185" "00002584" "70" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000925367" "00002584" "30" "616" "0" "616" "0" "c.616A>G" "r.(?)" "p.(Thr206Ala)" "" "0000927825" "00002584" "50" "2387" "0" "2387" "0" "c.2387C>T" "r.(?)" "p.(Ser796Leu)" "" "0000929843" "00002584" "30" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Val87Ile)" "" "0000929844" "00002584" "30" "680" "0" "680" "0" "c.680G>C" "r.(?)" "p.(Gly227Ala)" "" "0000936155" "00002584" "70" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Gly14Arg)" "" "0000936182" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000936187" "00002584" "90" "412" "0" "412" "0" "c.412G>T" "r.(?)" "p.(Glu138Ter)" "" "0000936193" "00002584" "70" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000945972" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0000945973" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0000945974" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0000946045" "00002584" "50" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0000946046" "00002584" "50" "2172" "0" "2178" "0" "c.2172_2178del" "r.(?)" "p.(His725Ter)" "" "0000946155" "00002584" "90" "1898" "1" "1898" "1" "c.1898+1G>A" "r.spl" "p.?" "" "0000949642" "00002584" "30" "2256" "0" "2256" "0" "c.2256G>A" "r.(?)" "p.(Thr752=)" "" "0000966309" "00002584" "90" "1733" "0" "1733" "0" "c.1733T>C" "r.(?)" "p.(Phe578Ser)" "" "0000966310" "00002584" "30" "2141" "0" "2141" "0" "c.2141C>G" "r.(?)" "p.(Thr714Ser)" "" "0000979522" "00002584" "70" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "" "0000979523" "00002584" "30" "295" "-8" "295" "-8" "c.295-8dup" "r.(=)" "p.(=)" "" "0000979524" "00002584" "50" "1165" "0" "1165" "0" "c.1165T>C" "r.(?)" "p.(Phe389Leu)" "" "0000979525" "00002584" "90" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404Ter)" "" "0000979526" "00002584" "50" "1640" "0" "1640" "0" "c.1640G>A" "r.(?)" "p.(Arg547Gln)" "" "0000979527" "00002584" "50" "2170" "0" "2170" "0" "c.2170G>C" "r.(?)" "p.(Ala724Pro)" "" "0000979528" "00002584" "50" "2243" "0" "2243" "0" "c.2243T>G" "r.(?)" "p.(Ile748Ser)" "" "0000979529" "00002584" "50" "2503" "0" "2505" "0" "c.2503_2505del" "r.(?)" "p.(Phe835del)" "" "0000998952" "00002584" "30" "443" "0" "443" "0" "c.443G>A" "r.(?)" "p.(Gly148Glu)" "" "0000998953" "00002584" "50" "1898" "0" "1898" "0" "c.1898C>T" "r.(?)" "p.(Pro633Leu)" "" "0000998954" "00002584" "50" "1925" "0" "1925" "0" "c.1925G>A" "r.(?)" "p.(Arg642Gln)" "" "0000998955" "00002584" "70" "1963" "0" "1963" "0" "c.1963T>C" "r.(?)" "p.(Trp655Arg)" "" "0000998956" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "" "0000998957" "00002584" "70" "2336" "0" "2336" "0" "c.2336del" "r.(?)" "p.(Asn779Ilefs*7)" "" "0001011067" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0001011068" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0001011069" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0001011117" "00002584" "50" "966" "0" "966" "0" "c.966A>T" "r.(?)" "p.(Leu322Phe)" "" "0001011118" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "" "0001011119" "00002584" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(Arg758Cys)" "" "0001014783" "00002584" "30" "1800" "16" "1800" "16" "c.1800+16A>G" "r.(=)" "p.(=)" "" "0001017388" "00002584" "70" "2141" "0" "2141" "0" "c.2141C>G" "r.(?)" "p.(Thr714Ser)" "" "0001017389" "00002584" "50" "2739" "0" "2740" "0" "c.2739_2740del" "r.(?)" "p.(Ter914IleextTer81)" "" "0001021257" "00002584" "50" "155" "0" "155" "0" "c.155A>G" "r.(?)" "p.(Asn52Ser)" "" "0001021266" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0001021271" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0001021274" "00002584" "90" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Asn64LysfsTer15)" "" "0001021286" "00002584" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "" "0001021292" "00002584" "90" "108" "0" "109" "0" "c.108_109del" "r.(?)" "p.(Glu36AspfsTer7)" "" "0001038400" "00002584" "90" "1627" "0" "1627" "0" "c.1627dup" "r.(?)" "p.(Met543Asnfs*11)" "" "0001038401" "00002584" "10" "1630" "221" "1630" "221" "c.1630+221dup" "r.(=)" "p.(=)" "" "0001038402" "00002584" "90" "1733" "0" "1733" "0" "c.1733T>C" "r.(?)" "p.(Phe578Ser)" "" "0001038403" "00002584" "50" "1760" "0" "1760" "0" "c.1760G>A" "r.(?)" "p.(Gly587Glu)" "" "0001038404" "00002584" "50" "2605" "0" "2606" "0" "c.2605_2606del" "r.(?)" "p.(Lys869Valfs*9)" "" "0001046306" "00002584" "50" "1103" "0" "1103" "0" "c.1103C>T" "r.(?)" "p.(Thr368Met)" "" "0001046943" "00002584" "90" "2498" "0" "2498" "0" "c.2498T>A" "r.(?)" "p.(Met833Lys)" "" "0001047478" "00002584" "50" "363" "269" "363" "270" "c.363+269_363+270del" "r.(?)" "p.(=)" "" "0001047479" "00002584" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0001047961" "00002584" "90" "1664" "0" "1664" "0" "c.1664G>T" "r.(?)" "p.(Ser555Ile)" "" "0001047962" "00002584" "90" "2498" "0" "2498" "0" "c.2498T>A" "r.(?)" "p.(Met833Lys)" "" "0001048329" "00002584" "50" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Val139Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 887 "{{screeningid}}" "{{variantid}}" "0000065386" "0000097057" "0000065386" "0000097058" "0000073927" "0000118865" "0000074506" "0000118866" "0000074506" "0000118867" "0000074507" "0000118868" "0000074508" "0000118869" "0000074509" "0000118870" "0000074510" "0000118871" "0000074511" "0000118872" "0000078918" "0000126487" "0000078919" "0000126488" "0000078920" "0000126489" "0000078921" "0000126490" "0000078921" "0000126756" "0000078922" "0000126491" "0000078922" "0000126757" "0000078923" "0000126492" "0000078923" "0000126758" "0000078924" "0000126493" "0000078924" "0000126759" "0000078925" "0000126494" "0000078925" "0000126760" "0000078926" "0000126495" "0000078926" "0000126761" "0000078927" "0000126496" "0000078927" "0000126762" "0000078928" "0000126497" "0000078928" "0000126642" "0000078929" "0000126498" "0000078929" "0000126763" "0000078930" "0000126499" "0000078930" "0000126764" "0000078931" "0000126500" "0000078931" "0000126765" "0000078932" "0000126501" "0000078932" "0000126766" "0000078933" "0000126502" "0000078933" "0000126767" "0000078934" "0000126503" "0000078935" "0000126504" "0000078936" "0000126505" "0000078936" "0000126643" "0000078937" "0000126506" "0000078938" "0000126507" "0000078938" "0000126644" "0000078939" "0000126508" "0000078939" "0000126645" "0000078940" "0000126509" "0000078940" "0000126646" "0000078941" "0000126510" "0000078941" "0000126647" "0000078942" "0000126511" "0000078942" "0000126648" "0000078943" "0000126512" "0000078943" "0000126649" "0000078944" "0000126513" "0000078944" "0000126650" "0000078945" "0000126514" "0000078945" "0000126651" "0000078946" "0000126515" "0000078946" "0000126652" "0000078947" "0000126516" "0000078947" "0000126653" "0000078948" "0000126517" "0000078948" "0000126654" "0000078949" "0000126518" "0000078949" "0000126655" "0000078950" "0000126519" "0000078950" "0000126656" "0000078951" "0000126520" "0000078951" "0000126657" "0000078952" "0000126521" "0000078952" "0000126658" "0000078953" "0000126522" "0000078953" "0000126659" "0000078954" "0000126523" "0000078954" "0000126660" "0000078955" "0000126524" "0000078955" "0000126768" "0000078956" "0000126525" "0000078956" "0000126661" "0000078957" "0000126526" "0000078957" "0000126662" "0000078958" "0000126527" "0000078958" "0000126737" "0000078959" "0000126528" "0000078959" "0000126738" "0000078960" "0000126529" "0000078960" "0000126739" "0000078961" "0000126530" "0000078961" "0000126740" "0000078962" "0000126531" "0000078962" "0000126741" "0000078963" "0000126532" "0000078963" "0000126742" "0000078964" "0000126533" "0000078964" "0000126743" "0000078965" "0000126534" "0000078965" "0000126744" "0000078966" "0000126535" "0000078966" "0000126745" "0000078967" "0000126536" "0000078967" "0000126746" "0000078968" "0000126537" "0000078968" "0000126663" "0000078969" "0000126538" "0000078969" "0000126747" "0000078970" "0000126539" "0000078970" "0000126769" "0000078971" "0000126540" "0000078971" "0000126664" "0000078972" "0000126541" "0000078972" "0000126748" "0000078973" "0000126542" "0000078973" "0000126665" "0000078974" "0000126543" "0000078974" "0000126666" "0000078975" "0000126544" "0000078975" "0000126667" "0000078976" "0000126545" "0000078976" "0000126668" "0000078977" "0000126546" "0000078977" "0000126669" "0000078978" "0000126547" "0000078978" "0000126670" "0000078979" "0000126548" "0000078979" "0000126637" "0000078979" "0000126671" "0000078980" "0000126549" "0000078980" "0000126672" "0000078981" "0000126550" "0000078981" "0000126636" "0000078982" "0000126551" "0000078982" "0000126749" "0000078983" "0000126552" "0000078983" "0000126750" "0000078984" "0000126553" "0000078984" "0000126673" "0000078985" "0000126554" "0000078985" "0000126674" "0000078986" "0000126555" "0000078986" "0000126751" "0000078987" "0000126556" "0000078987" "0000126752" "0000078988" "0000126557" "0000078988" "0000126753" "0000078989" "0000126558" "0000078989" "0000126675" "0000078990" "0000126559" "0000078990" "0000126676" "0000078991" "0000126560" "0000078992" "0000126561" "0000078993" "0000126562" "0000078994" "0000126563" "0000078995" "0000126564" "0000078996" "0000126565" "0000078997" "0000126566" "0000078998" "0000126567" "0000078998" "0000126677" "0000078999" "0000126568" "0000078999" "0000126678" "0000079000" "0000126569" "0000079000" "0000126679" "0000079001" "0000126570" "0000079001" "0000126680" "0000079002" "0000126571" "0000079002" "0000126681" "0000079003" "0000126572" "0000079003" "0000126682" "0000079004" "0000126573" "0000079004" "0000126683" "0000079005" "0000126574" "0000079005" "0000126684" "0000079006" "0000126575" "0000079006" "0000126685" "0000079007" "0000126576" "0000079007" "0000126686" "0000079008" "0000126577" "0000079008" "0000126687" "0000079009" "0000126578" "0000079009" "0000126688" "0000079010" "0000126579" "0000079010" "0000126689" "0000079011" "0000126580" "0000079011" "0000126690" "0000079012" "0000126581" 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