### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IGHMBP2) # 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}}" "IGHMBP2" "immunoglobulin mu binding protein 2" "11" "q13.3" "unknown" "NG_007976.1" "UD_132118389788" "" "https://www.LOVD.nl/IGHMBP2" "" "1" "5542" "3508" "600502" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/IGHMBP2_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00002" "2010-04-29 00:00:00" "00006" "2018-12-28 10:57:54" "00000" "2023-01-11 15:44:22" ## 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}}" "00000110" "IGHMBP2" "immunoglobulin mu binding protein 2" "001" "NM_002180.2" "" "NP_002171.2" "" "" "" "-102" "3852" "2982" "68671319" "68708069" "00002" "2012-05-11 13:12:07" "" "" ## 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" "" "" "00128" "CF" "cystic fibrosis (CF)" "AR" "219700" "" "" "" "00006" "2013-05-14 09:22:43" "00006" "2021-12-10 21:51:32" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" "02496" "DSMA1" "atrophy, muscular, spinal, distal, type 1 (DSMA-1, alias SMARD-1)" "AR" "604320" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04514" "CMT2S" "Charcot-Marie-Tooth disease, axonal, type 2S (CMT-2S)" "AR" "616155" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05111" "HMN" "neuropathy, motor, distal, hereditary (HMN)" "" "" "" "" "" "00006" "2016-01-11 01:33:03" "00006" "2016-03-20 12:15:43" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "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" "" "" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "IGHMBP2" "02496" "IGHMBP2" "04514" ## Individuals ## Do not remove or alter this header ## ## Count = 174 "{{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}}" "00000009" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000011" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "M" "" "" "" "0" "" "" "" "NA04364" "00000012" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000014" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000016" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000020" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000025" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000030" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000031" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000034" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000035" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000041" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000042" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000043" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000044" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000045" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000046" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000047" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000048" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000049" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000050" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000051" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000056" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000057" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000058" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000062" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000064" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000068" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000070" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000072" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000073" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000075" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000076" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000078" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000085" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000086" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000087" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000088" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000089" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000090" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000091" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000092" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00035961" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035962" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035963" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035964" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035965" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035966" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035967" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035968" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035969" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035970" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035971" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035972" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035973" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035974" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035975" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035976" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035977" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035978" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00080845" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00080874" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00081008" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00207796" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00207923" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00208811" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00210418" "" "" "" "2" "" "00503" "{PMID:Grohmann, 2001:11528396}" "affected sibling" "F" "no" "Germany" "" "0" "" "" "" "F4; 18; 7" "00210419" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2001:11528396}" "" "M" "yes" "Lebanon" "" "0" "" "" "" "F5; 19" "00210420" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2001:11528396}" "" "F" "yes" "Italy" "" "0" "" "" "" "F6; 25; 8" "00210421" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2001:11528396}" "" "F" "yes" "Turkey" "" "0" "" "" "" "F3; 7; 6" "00210422" "" "" "" "5" "" "00503" "{PMID:Grohmann, 2001:11528396}" "Four affected siblings" "F" "yes" "Lebanon" "" "0" "" "" "" "F2; 10" "00210423" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2001:11528396}; {PMID:Grohmann, 2003:14681881}; {PMID:Diers, 2005:16025284}" "" "M" "no" "Italy" "" "0" "" "" "" "F1; 4; 1" "00210424" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "M" "" "Australia" "" "0" "" "" "" "1" "00210425" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "F" "" "Israel" "" "0" "" "" "" "2" "00210426" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "M" "" "Bangladesh" "" "0" "" "" "" "3" "00210427" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}; {PMID:Diers, 2005:16025284}" "" "F" "" "Ghana" "" "0" "" "" "" "5; 2" "00210428" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "M" "" "Ghana" "" "0" "" "" "" "6" "00210429" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "M" "" "Austria" "" "0" "" "" "" "8" "00210430" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "M" "" "Germany" "" "0" "" "" "" "9" "00210431" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "M" "" "Germany" "" "0" "" "" "" "11" "00210432" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "F" "" "Australia" "" "0" "" "" "" "12" "00210433" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "M" "" "Australia" "" "0" "" "" "" "13" "00210434" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "F" "" "Germany" "" "0" "" "" "" "14" "00210435" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "F" "" "Spain" "" "0" "" "" "" "15" "00210436" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "M" "" "Germany" "" "0" "" "" "" "16" "00210437" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "17" "00210438" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "F" "" "Germany" "" "0" "" "" "" "20" "00210439" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "F" "" "Hungary" "" "0" "" "" "" "21" "00210440" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}; {PMID:Guenther, 2004:15290238}" "" "F" "no" "Belgium" ">9y" "0" "" "" "" "22; P2" "00210441" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "M" "" "Morocco" "" "0" "" "" "" "23" "00210442" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "M" "" "Turkey" "" "0" "" "" "" "24" "00210443" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "F" "" "Germany" "" "0" "" "" "" "26" "00210444" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "M" "" "" "" "0" "" "" "African" "27" "00210445" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "F" "" "Germany" "" "0" "" "" "" "28" "00210446" "" "" "" "1" "" "00503" "{PMID:Grohmann, 2003:14681881}" "" "M" "" "Australia" "" "0" "" "" "" "29" "00210447" "" "" "" "1" "" "00503" "{PMID:Pitt, 2003:14506069}" "" "M" "" "" "4m" "0" "" "" "" "1" "00210448" "" "" "" "1" "" "00503" "{PMID:Pitt, 2003:14506069}" "" "" "" "" "3m" "0" "" "" "" "2" "00210449" "" "" "" "1" "" "00503" "{PMID:Pitt, 2003:14506069}" "" "" "" "" "3m" "0" "" "" "" "6" "00210450" "" "" "" "1" "" "00503" "{PMID:Pitt, 2003:14506069}" "" "" "" "Bahrain" "" "0" "" "" "" "7" "00210451" "" "" "" "1" "" "00503" "{PMID:Pitt, 2003:14506069}" "" "" "" "" "6m15d" "0" "" "" "" "8" "00210452" "" "" "" "1" "" "00503" "{PMID:Pitt, 2003:14506069}" "" "" "" "" "9m15d" "0" "" "" "" "9" "00210453" "" "" "" "1" "" "00503" "{PMID:Pitt, 2003:14506069}" "" "" "" "" "3m" "0" "" "" "" "12" "00210454" "" "" "" "1" "" "00503" "{PMID:Pitt, 2003:14506069}" "affected sister" "" "" "" "" "0" "" "" "" "13" "00210455" "" "" "" "1" "" "00503" "{PMID:Maystadt, 2004:15108294}" "" "" "" "" "3m" "0" "" "" "" "P5" "00210456" "" "" "" "1" "" "00503" "{PMID:Maystadt, 2004:15108294}" "" "" "" "" "5m15d" "0" "" "" "" "P6" "00210457" "" "" "" "1" "" "00503" "{PMID:Maystadt, 2004:15108294}" "" "" "" "" "13m" "0" "" "" "" "P11" "00210458" "" "" "" "1" "" "00503" "{PMID:Maystadt, 2004:15108294}" "" "" "" "" "6m" "0" "" "" "" "P27" "00210459" "" "" "" "1" "" "00503" "{PMID:Maystadt, 2004:15108294}" "" "" "" "" ">2y" "0" "" "" "" "P28" "00210460" "" "" "" "1" "" "00503" "" "" "F" "yes" "Portugal" "" "0" "" "" "" "623SMA" "00210461" "" "" "" "1" "" "00503" "{PMID:Guenther, 2004:15290238}" "" "M" "no" "Italy" ">6y" "0" "" "" "" "P1" "00210462" "" "" "" "1" "" "00503" "{PMID:Guenther, 2007:17431882}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "1" "00210463" "" "" "" "1" "" "00503" "{PMID:Guenther, 2007:17431882}" "" "" "" "Italy" "" "0" "" "" "" "2" "00210464" "" "" "" "1" "" "00503" "{PMID:Guenther, 2007:17431882}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "3" "00210465" "" "" "" "1" "" "00503" "{PMID:Guenther, 2007:17431882}" "" "" "" "Viet Nam" "" "0" "" "" "" "4" "00210466" "" "" "" "1" "" "00503" "{PMID:Guenther, 2007:17431882}" "" "" "" "South Africa" "" "0" "" "" "" "5" "00210467" "" "" "" "1" "" "00503" "{PMID:Guenther, 2007:17431882}" "" "" "" "United States" "" "0" "" "" "" "6" "00210468" "" "" "" "1" "" "00503" "{PMID:Guenther, 2007:17431882}" "" "" "" "United States" "" "0" "" "" "" "7" "00210469" "" "" "" "1" "" "00503" "{PMID:Guenther, 2007:17431882}" "" "" "" "Sweden" "" "0" "" "" "" "8" "00210470" "" "" "" "1" "" "00503" "{PMID:Guenther, 2007:17431882}" "" "" "" "Italy" "" "0" "" "" "" "9" "00210471" "" "" "" "1" "" "00503" "{PMID:Guenther, 2007:17431882}" "" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "10" "00210472" "" "" "" "1" "" "00503" "{PMID:Giannini, 2006:16964485}" "" "M" "no" "(Italy)" "5m" "0" "" "" "" "Case 1" "00210473" "" "" "" "1" "" "00503" "{PMID:Giannini, 2006:16964485}" "" "M" "" "(Italy)" ">20m" "0" "" "" "" "case 2" "00210474" "" "" "" "1" "" "00503" "{PMID:Wong, 2006:16765827}" "" "M" "no" "China" ">3y" "0" "" "" "" "patient" "00210475" "" "" "" "1" "" "00503" "{PMID:Joseph, 2009:19157874}" "affected brother (patient 22939)" "F" "" "(United Kingdom (Great Britain))" ">13y" "0" "" "" "" "case 1" "00210476" "" "" "" "1" "" "00503" "{PMID:Joseph, 2009:19157874}" "affected sister (patient 22938)" "M" "" "(United Kingdom (Great Britain))" "6m" "0" "" "" "" "case 2" "00210477" "" "" "" "1" "" "00503" "{PMID:Fanos, 2010:20859832}" "clinically affected sister" "F" "" "Italy" "6m" "0" "" "" "Sardinian" "patient" "00210478" "" "" "" "1" "" "00503" "{PMID:Pierson, 2011:21353777}" "" "M" "no" "(United States)" ">20y" "0" "" "" "" "patient" "00210479" "" "" "" "1" "" "00503" "{PMID:AlSaman, 2010:20197267}" "" "F" "yes" "Saudi Arabia" "2y" "0" "" "" "" "patient" "00210480" "" "" "" "1" "" "00503" "{PMID:Guenther, 2009:18802676}" "" "F" "no" "(Germany)" "" "0" "" "" "white" "patient 1" "00210481" "" "" "" "1" "" "00503" "{PMID:Guenther, 2009:18802676}" "" "M" "no" "(Germany)" ">23m" "0" "" "" "white" "patient 2" "00219063" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat73" "00219064" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat74" "00219065" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat75" "00290520" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290521" "" "" "" "168" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290522" "" "" "" "35" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295254" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300002" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-IGHMBP2-a" "00300003" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-IGHMBP2-a" "00300004" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-IGHMBP2-a" "00300005" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300006" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300007" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300063" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-IGHMBP2-a" "00300064" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300065" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300066" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-IGHMBP2-a" "00300067" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300068" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300069" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300070" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300071" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300072" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300111" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-IGHMBP2-b" "00300123" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-IGHMBP2-b" "00300124" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-IGHMBP2-b" "00300125" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-IGHMBP2-b" "00300129" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-IGHMBP2-b" "00300138" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-IGHMBP2-c" "00300148" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-IGHMBP2-d" "00304318" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305807" "" "" "" "1" "" "00006" "{PMID:Yu 2017:28403181}" "analysis 180 LGMD patients" "F" "" "China" "" "0" "" "" "" "P93" "00306144" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "80" "00308037" "" "" "" "1" "" "00006" "{PMID:Mahler 2019:31056085}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "no" "Germany" "" "0" "" "" "" "Pat16" "00308736" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00374346" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5906" "00374347" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0606" "00374554" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1035" "00374763" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1531" "00374997" "" "" "" "1" "" "00000" "{PMID:Dubis 2015:25277229}" "" "F" "" "" "" "0" "" "" "" "MM_0029" "00374998" "" "" "" "1" "" "00000" "{PMID:Dubis 2015:25277229}" "" "F" "" "" "" "0" "" "" "" "MM_0085" "00397835" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "B19" "00414402" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP69" "00414704" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA01210" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 129 "{{individualid}}" "{{diseaseid}}" "00000011" "00128" "00000011" "00138" "00000011" "05103" "00000011" "05378" "00000012" "00138" "00000012" "05378" "00000014" "00138" "00000014" "05378" "00000016" "00138" "00000016" "05378" "00000025" "05378" "00000030" "00000" "00035962" "00198" "00035964" "00198" "00035966" "00198" "00035975" "00198" "00035977" "00198" "00035978" "00198" "00080845" "02496" "00080874" "04514" "00081008" "02496" "00210418" "02496" "00210419" "02496" "00210420" "02496" "00210421" "02496" "00210422" "02496" "00210423" "02496" "00210424" "02496" "00210425" "02496" "00210426" "02496" "00210427" "02496" "00210428" "02496" "00210429" "02496" "00210430" "02496" "00210431" "02496" "00210432" "02496" "00210433" "02496" "00210434" "02496" "00210435" "02496" "00210436" "02496" "00210437" "02496" "00210438" "02496" "00210439" "02496" "00210440" "02496" "00210441" "02496" "00210442" "02496" "00210443" "02496" "00210444" "02496" "00210445" "02496" "00210446" "02496" "00210447" "02496" "00210448" "02496" "00210449" "02496" "00210450" "02496" "00210451" "02496" "00210452" "02496" "00210453" "02496" "00210454" "02496" "00210455" "02496" "00210456" "02496" "00210457" "02496" "00210458" "02496" "00210459" "02496" "00210460" "02496" "00210461" "02496" "00210462" "02496" "00210463" "02496" "00210464" "02496" "00210465" "02496" "00210466" "02496" "00210467" "02496" "00210468" "02496" "00210469" "02496" "00210470" "02496" "00210471" "02496" "00210472" "02496" "00210473" "02496" "00210474" "02496" "00210475" "02496" "00210476" "02496" "00210477" "02496" "00210478" "02496" "00210479" "02496" "00210480" "02496" "00210481" "02496" "00219063" "05113" "00219064" "05113" "00219065" "05113" "00290520" "00198" "00290521" "00198" "00290522" "00198" "00295254" "00198" "00300002" "05113" "00300003" "00199" "00300004" "05113" "00300005" "00199" "00300006" "05111" "00300007" "05113" "00300063" "05113" "00300064" "05111" "00300065" "05111" "00300066" "00199" "00300067" "05384" "00300068" "05384" "00300069" "05113" "00300070" "05111" "00300071" "05113" "00300072" "00199" "00300111" "05113" "00300123" "05111" "00300124" "05111" "00300125" "00199" "00300129" "00199" "00300138" "00199" "00300148" "00199" "00304318" "00198" "00305807" "05126" "00306144" "02496" "00308037" "00198" "00308736" "00000" "00374346" "00198" "00374347" "00198" "00374554" "00198" "00374763" "00198" "00374997" "04214" "00374998" "04214" "00397835" "05121" "00414402" "00198" "00414704" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00128, 00138, 00198, 00199, 02496, 04214, 04514, 05103, 05111, 05113, 05121, 05126, 05378, 05384 ## Count = 116 "{{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}}" "0000060414" "02496" "00080845" "01758" "Familial, autosomal recessive" "" "Neuronopathy, distal hereditary motor, type VI (OMIM:604320)" "" "" "" "" "" "" "" "" "" "" "" "0000060443" "04514" "00080874" "01758" "Familial, autosomal recessive" "" "Charcot-Marie-Tooth disease, axonal, type 2S (OMIM:616155)" "" "" "" "" "" "" "" "" "" "" "" "0000060577" "02496" "00081008" "01758" "Familial, autosomal recessive" "" "Neuronopathy, distal hereditary motor, type VI (OMIM:604320)" "" "" "" "" "" "" "" "" "" "" "" "0000155579" "00198" "00207796" "01164" "Unknown" "" "HP:0010980 (Hyperlipoproteinemia); HP:0001315 (Reduced tendon reflexes); HP:0001513 (Obesity); HP:0003149 (Hyperuricosuria); HP:0000819 (Diabetes mellitus); HP:0004323 (Abnormality of body weight); HP:0100022 (Abnormality of movement); HP:0001252 (Muscular hypotonia); HP:0001265 (Hyporeflexia); HP:0000771 (Gynecomastia); HP:0001288 (Gait disturbance); HP:0001903 (Anemia)" "" "" "" "" "" "" "" "" "" "" "" "0000155697" "00198" "00207923" "01164" "Unknown" "" "HP:0002133 (Status epilepticus)" "" "" "" "" "" "" "" "" "" "" "" "0000156316" "00198" "00035962" "01164" "Unknown" "" "suspected SMARD1" "" "" "" "" "" "" "" "" "" "SMARD?" "" "0000156317" "00198" "00035964" "01164" "Unknown" "" "suspected SMARD" "" "" "" "" "" "" "" "" "" "SMARD?" "" "0000156318" "00198" "00035966" "01164" "Unknown" "" "suspected SMARD1" "" "" "" "" "" "" "" "" "" "SMARD?" "" "0000156319" "00198" "00035975" "01164" "Unknown" "" "suspected SMARD" "" "" "" "" "" "" "" "" "" "SMARD?" "" "0000156320" "00198" "00035977" "01164" "Unknown" "" "suspected SMARD" "" "" "" "" "" "" "" "" "" "SMARD?" "" "0000156321" "00198" "00035978" "01164" "Unknown" "" "suspected SMARD" "" "" "" "" "" "" "" "" "" "SMARD?" "" "0000157422" "00198" "00208811" "01164" "Unknown" "" "HP:0012638 (Abnormality of nervous system physiology); HP:0100543 (Cognitive impairment); HP:0011446 (Abnormality of higher mental function); HP:0001288 (Gait disturbance); HP:0001324 (Muscle weakness)" "" "" "" "" "" "" "" "" "" "" "" "0000158983" "02496" "00210418" "00503" "Isolated (sporadic)" "" "" "1m" "" "muscle weakness" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000158984" "02496" "00210419" "00503" "Isolated (sporadic)" "" "Bilateral equinovarus foot" "3m15d" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000158985" "02496" "00210420" "00503" "Isolated (sporadic)" "" "" "<05m" "" "respiratory distress, muscle weakness" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000158986" "02496" "00210421" "00503" "Isolated (sporadic)" "" "" "1m15d" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000158987" "02496" "00210422" "00503" "Isolated (sporadic)" "" "" "2m" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000158988" "02496" "00210423" "00503" "Isolated (sporadic)" "" "" "1m" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000158989" "02496" "00210424" "00503" "Unknown" "" "" "3d" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000158990" "02496" "00210425" "00503" "Unknown" "" "" "21d" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000158991" "02496" "00210426" "00503" "Unknown" "" "" "28d" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000158992" "02496" "00210427" "00503" "Unknown" "" "" "1m" "" "muscle weakness" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000158993" "02496" "00210428" "00503" "Unknown" "" "" "42d" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000158994" "02496" "00210429" "00503" "Unknown" "" "" "42d" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000158995" "02496" "00210430" "00503" "Unknown" "" "" "45d" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000158996" "02496" "00210431" "00503" "Unknown" "" "" "60d" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000158997" "02496" "00210432" "00503" "Unknown" "" "" "60d" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000158998" "02496" "00210433" "00503" "Unknown" "" "" "63d" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000158999" "02496" "00210434" "00503" "Unknown" "" "" "91d" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159000" "02496" "00210435" "00503" "Unknown" "" "" "91d" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159001" "02496" "00210436" "00503" "Unknown" "" "" "91d" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159002" "02496" "00210437" "00503" "Unknown" "" "" "91d" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159003" "02496" "00210438" "00503" "Unknown" "" "" "3m15d" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159004" "02496" "00210439" "00503" "Unknown" "" "" "4m" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159005" "02496" "00210440" "00503" "Isolated (sporadic)" "" "" "2m" "" "mild distal weakness" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159006" "02496" "00210441" "00503" "Unknown" "" "" "5m" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159007" "02496" "00210442" "00503" "Unknown" "" "" "5m" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159008" "02496" "00210443" "00503" "Unknown" "" "" "5m15d" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159009" "02496" "00210444" "00503" "Unknown" "" "" "6m" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159010" "02496" "00210445" "00503" "Unknown" "" "" "6m" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159011" "02496" "00210446" "00503" "Unknown" "" "" "1y" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159012" "02496" "00210447" "00503" "Unknown" "" "" "8d" "" "poor feeding, respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159013" "02496" "00210448" "00503" "Unknown" "" "" "1m7d" "" "respiratory arrest" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159014" "02496" "00210449" "00503" "Unknown" "" "" "7d" "" "Tachypnea; feeding difficulty" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159015" "02496" "00210450" "00503" "Unknown" "" "" "<4m" "" "Hypotonia" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159016" "02496" "00210451" "00503" "Unknown" "" "" "2m21d" "" "Feeding difficulty" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159017" "02496" "00210452" "00503" "Unknown" "" "" "3m" "" "Feeding problems" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159018" "02496" "00210453" "00503" "Unknown" "" "" "2m" "" "Apnoeas" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159019" "02496" "00210454" "00503" "Unknown" "" "" "4m" "" "Failure to thrive, stridor, hypotonia, feeding difficulty" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159020" "02496" "00210455" "00503" "Unknown" "" "" "2m" "" "muscle weakness" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159021" "02496" "00210456" "00503" "Unknown" "" "" "<1m" "" "muscle weakness" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159022" "02496" "00210457" "00503" "Unknown" "" "" "<1m" "" "muscle weakness" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159023" "02496" "00210458" "00503" "Unknown" "" "" "2m" "" "muscle weakness" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159024" "02496" "00210459" "00503" "Unknown" "" "" "1m" "" "muscle weakness, respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159025" "02496" "00210460" "00503" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159026" "02496" "00210461" "00503" "Isolated (sporadic)" "" "5y-FVC 62%; walk-17m; no walk-3y" "3m" "" "bilateral foot drop, hip dysplasia" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159027" "02496" "00210462" "00503" "Unknown" "" "" "" "" "" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159028" "02496" "00210463" "00503" "Unknown" "" "" "" "" "" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159029" "02496" "00210464" "00503" "Unknown" "" "" "" "" "" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159030" "02496" "00210465" "00503" "Unknown" "" "" "" "" "" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159031" "02496" "00210466" "00503" "Unknown" "" "" "" "" "" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159032" "02496" "00210467" "00503" "Unknown" "" "" "" "" "" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159033" "02496" "00210468" "00503" "Unknown" "" "" "" "" "" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159034" "02496" "00210469" "00503" "Unknown" "" "" "" "" "" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159035" "02496" "00210470" "00503" "Unknown" "" "" "" "" "" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159036" "02496" "00210471" "00503" "Unknown" "" "" "" "" "" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159037" "02496" "00210472" "00503" "Isolated (sporadic)" "" "neonatal onset" "" "" "slight muscular hypotrophy and hypotonia" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159038" "02496" "00210473" "00503" "Isolated (sporadic)" "" "" "1m" "" "sucking difficulties, respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159039" "02496" "00210474" "00503" "Isolated (sporadic)" "" "" "5m" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159040" "02496" "00210475" "00503" "Isolated (sporadic)" "" "Atypical SMARD1 presentation; walk-27m" "<2y6m" "" "delayed motor milestones, distal muscle weakness" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159041" "02496" "00210476" "00503" "Isolated (sporadic)" "" "tongue fasciculation" "4m" "" "respiratory distress" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159042" "02496" "00210477" "00503" "Isolated (sporadic)" "" "Giant cell hepatitis; intrauterine growth retardation" "3m" "" "muscular hypotonia" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159043" "02496" "00210478" "00503" "Isolated (sporadic)" "" "Mild facial diplegia; hypertension; cholelithiasis; excessive sweating; no motor ability" "14d" "" "apneic episodes, feeding problems" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159044" "02496" "00210479" "00503" "Isolated (sporadic)" "" "Mild scoliosis and facial weakness, and minimal tongue fasciculation; bilateral equinovarus feet; excessive sweating; sit-7m" "3m" "" "feeding difficulties" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159045" "02496" "00210480" "00503" "Isolated (sporadic)" "" "infantile form, bilateral varus foot (at birth); 11y-FVC 47%; sit-12m,no walk-4y, no sit-10y" "12m" "" "frequent falls and unable to rise from supine positon" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000159046" "02496" "00210481" "00503" "Isolated (sporadic)" "" "" "3m" "" "respiratory and feeding difficulties" "" "" "" "" "" "DSMA-1" "distal spinal muscualr atrophy" "" "0000167620" "05113" "00219063" "00006" "Unknown" "" "AR-CMT2S; no family history" "" "" "" "" "" "" "" "" "CMT-2S" "Charcot-Marie-Tooth diseae" "" "0000167621" "05113" "00219064" "00006" "Unknown" "" "AR-CMT2S; no family history" "" "" "" "" "" "" "" "" "CMT-2S" "Charcot-Marie-Tooth diseae" "" "0000167622" "05113" "00219065" "00006" "Unknown" "" "AR-CMT2S; no family history" "" "" "" "" "" "" "" "" "CMT-2S" "Charcot-Marie-Tooth diseae" "" "0000180197" "01907" "00000045" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000227323" "05113" "00300002" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227324" "00199" "00300003" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227325" "05113" "00300004" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227326" "00199" "00300005" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227327" "05111" "00300006" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000227328" "05113" "00300007" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227384" "05113" "00300063" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227385" "05111" "00300064" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000227386" "05111" "00300065" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000227387" "00199" "00300066" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227388" "05384" "00300067" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "mixed inherited peripheral neuropathy" "" "0000227389" "05384" "00300068" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1/CMT2" "" "0000227390" "05113" "00300069" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227391" "05111" "00300070" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000227392" "05113" "00300071" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227393" "00199" "00300072" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227432" "05113" "00300111" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227444" "05111" "00300123" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000227445" "05111" "00300124" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000227446" "00199" "00300125" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227450" "00199" "00300129" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227459" "00199" "00300138" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227469" "00199" "00300148" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000231653" "05126" "00305807" "00006" "Unknown" "13y" "moderate (MRC grade 3-4/5); lower limbs more severe than upper limbs; neck flexor weakness (HP:0003722); serum CK max. 93 IU/L; biopsy myopathic;  " "7y" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000231988" "02496" "00306144" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231989" "02496" "00306144" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233463" "00198" "00308037" "00006" "Familial, autosomal recessive" "" "moderate delay in motor development, connective tissue weakness" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000269556" "00198" "00374346" "00006" "Familial, autosomal recessive" "" "Features suggestive of Charcot-Marie-Tooth disease and spinal muscular atrophy" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000269557" "00198" "00374347" "00006" "Familial, autosomal recessive" "" "Developmental delay and an electromyography/nerve conduction velocity test was suggestive of hereditary motor and sensory neuropathy. She also underwent a corrective surgery for congenital talipes equino varus" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000269764" "00198" "00374554" "00006" "Familial, autosomal recessive" "" "encephalopathy, seizures at two months of age, developed pneumonia and sensory neuropathy" "" "" "" "" "" "" "" "" "" "epilepsy, neuropathy" "" "0000269973" "00198" "00374763" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000270207" "04214" "00374997" "00000" "Familial, autosomal recessive" "14y" "see paper; ..., foveal hypoplasia" "" "" "" "" "" "" "" "" "" "achromatopsia" "" "0000270208" "04214" "00374998" "00000" "Familial, autosomal recessive" "17y" "see paper; ..., foveal hypoplasia" "" "" "" "" "" "" "" "" "" "achromatopsia" "" "0000290962" "05121" "00397835" "00006" "Familial, autosomal recessive" "" "Bethlem myopathy" "" "" "" "" "" "" "" "" "BTHLM1" "Bethlem myopathy" "" "0000306237" "00198" "00414402" "00000" "Unknown" "" "Autosomal Recessive Distal Spinal Muscular Atrophy 1;Charcot-Marie-Tooth disease" "" "" "" "" "" "" "" "" "" "" "" "0000306499" "04214" "00414704" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "galactosemia" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 174 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000009" "00000009" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000011" "00000011" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2021-10-11 11:49:29" "SEQ-NG" "DNA" "" "" "0000000012" "00000012" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000014" "00000014" "1" "00004" "" "2012-05-11 13:18:39" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000016" "00000016" "1" "00004" "" "2012-05-11 13:18:39" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000020" "00000020" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000025" "00000025" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000030" "00000030" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000031" "00000031" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000034" "00000034" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000035" "00000035" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000041" "00000041" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000042" "00000042" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000043" "00000043" "1" "00004" "" "2012-05-11 13:18:47" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000044" "00000044" "1" "00004" "" "2012-05-11 13:18:47" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000045" "00000045" "1" "00004" "" "2012-05-11 13:18:47" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000046" "00000046" "1" "00004" "" "2012-05-11 13:18:48" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000047" "00000047" "1" "00004" "" "2012-05-11 13:18:48" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000048" "00000048" "1" "00004" "" "2012-05-11 13:18:48" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000049" "00000049" "1" "00004" "" "2012-05-11 13:18:49" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000050" "00000050" "1" "00004" "" "2012-05-11 13:18:49" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000051" "00000051" "1" "00004" "" "2012-05-11 13:18:50" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000056" "00000056" "1" "00004" "" "2012-05-11 13:18:52" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000057" "00000057" "1" "00004" "" "2012-05-11 13:18:52" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000058" "00000058" "1" "00004" "" "2012-05-11 13:18:53" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000062" "00000062" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000064" "00000064" "1" "00004" "" "2012-05-11 13:18:55" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000068" "00000068" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000070" "00000070" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000072" "00000072" "1" "00004" "" "2012-05-11 13:18:59" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000073" "00000073" "1" "00004" "" "2012-05-11 13:18:59" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000075" "00000075" "1" "00004" "" "2012-05-11 13:19:00" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000076" "00000076" "1" "00004" "" "2012-05-11 13:19:02" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000078" "00000078" "1" "00004" "" "2012-05-11 13:19:04" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000085" "00000085" "1" "00004" "" "2012-05-11 13:19:11" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000086" "00000086" "1" "00004" "" "2012-05-11 13:19:14" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000087" "00000087" "1" "00004" "" "2012-05-11 13:19:14" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000088" "00000088" "1" "00004" "" "2012-05-11 13:19:14" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000089" "00000089" "1" "00004" "" "2012-05-11 13:19:15" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000090" "00000090" "1" "00004" "" "2012-05-11 13:19:16" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000091" "00000091" "1" "00004" "" "2012-05-11 13:19:17" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000092" "00000092" "1" "00004" "" "2012-05-11 13:19:17" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000036031" "00035961" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036032" "00035962" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036033" "00035963" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036034" "00035964" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036035" "00035965" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036036" "00035966" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036037" "00035967" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036038" "00035968" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036039" "00035969" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036040" "00035970" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036041" "00035971" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036042" "00035972" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036043" "00035973" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036044" "00035974" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036045" "00035975" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036046" "00035976" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036047" "00035977" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036048" "00035978" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000080957" "00080845" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000080986" "00080874" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081120" "00081008" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000208837" "00207796" "1" "01164" "01164" "2018-11-30 14:43:57" "" "" "SEQ-NG" "DNA" "" "" "0000208968" "00207923" "1" "01164" "01164" "2018-12-04 16:33:09" "" "" "SEQ-NG" "DNA" "" "" "0000209860" "00208811" "1" "01164" "01164" "2018-12-17 10:13:46" "" "" "SEQ-NG" "DNA" "" "" "0000211494" "00210418" "1" "00503" "00006" "2011-07-28 12:59:38" "00006" "2012-03-10 12:08:10" "SEQ" "DNA" "" "" "0000211495" "00210419" "1" "00503" "00006" "2011-07-28 12:59:38" "00006" "2012-03-10 12:14:36" "SEQ" "DNA" "" "" "0000211496" "00210420" "1" "00503" "00006" "2011-07-28 12:59:38" "00006" "2012-03-10 12:14:00" "SEQ" "DNA" "" "" "0000211497" "00210421" "1" "00503" "00006" "2011-07-28 12:59:38" "00006" "2012-03-10 12:13:28" "SEQ" "DNA" "" "" "0000211498" "00210422" "1" "00503" "00006" "2011-07-28 12:59:38" "00006" "2012-03-10 12:12:31" 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"0000000078" "PMM2" "0000000078" "POLG" "0000000078" "RAG1" "0000000078" "SERPINA1" "0000000078" "SLC26A2" "0000000085" "ADA" "0000000085" "ATP7B" "0000000085" "ETFB" "0000000085" "FGG" "0000000085" "FKTN" "0000000085" "HEXB" "0000000085" "IGHMBP2" "0000000085" "MYO5A" "0000000085" "NHLRC1" "0000000085" "PKHD1" "0000000085" "POLG" "0000000085" "SERPINA1" "0000000085" "SGSH" "0000000086" "ARSB" "0000000086" "ATP7B" "0000000086" "BTD" "0000000086" "ETFB" "0000000086" "GLB1" "0000000086" "HEXB" "0000000086" "HPRT1" "0000000086" "IGHMBP2" "0000000086" "NHLRC1" "0000000086" "POLG" "0000000086" "SERPINA1" "0000000086" "SLC26A2" "0000000087" "AHI1" "0000000087" "ATP7B" "0000000087" "BTD" "0000000087" "CYP21A2" "0000000087" "ETFB" "0000000087" "FRAS1" "0000000087" "GLB1" "0000000087" "IGHMBP2" "0000000087" "NHLRC1" "0000000087" "SERPINA1" "0000000087" "SLC26A2" "0000000088" "ATP7B" "0000000088" "CFTR" "0000000088" "ETFB" "0000000088" "FKRP" "0000000088" "GALC" "0000000088" "GLB1" "0000000088" "HEXB" "0000000088" "IGHMBP2" "0000000088" "NHLRC1" "0000000088" "NPHS1" "0000000088" "POLG" "0000000088" "SBDS" "0000000088" "SERPINA1" "0000000089" "ATP7B" "0000000089" "BTD" "0000000089" "CFTR" "0000000089" "ETFB" "0000000089" "GALC" "0000000089" "GLB1" "0000000089" "IGHMBP2" "0000000089" "SMPD1" "0000000090" "CYP21A2" "0000000090" "ERCC4" "0000000090" "GLB1" "0000000090" "HEXB" "0000000090" "IGHMBP2" "0000000090" "LAMA2" "0000000090" "NHLRC1" "0000000090" "NPHS1" "0000000091" "GALC" "0000000091" "IGHMBP2" "0000000091" "MYO5A" "0000000091" "NHLRC1" "0000000091" "SMPD1" "0000000092" "ATP8B1" "0000000092" "ETFB" "0000000092" "GLB1" "0000000092" "IGHMBP2" "0000000092" "LAMA2" "0000000092" "MYO5A" "0000000092" "NPHS1" "0000000092" "SMPD1" "0000036031" "IGHMBP2" "0000036032" "IGHMBP2" "0000036033" "IGHMBP2" "0000036034" "IGHMBP2" "0000036035" "IGHMBP2" "0000036036" "IGHMBP2" "0000036037" "IGHMBP2" "0000036038" "IGHMBP2" "0000036039" "IGHMBP2" "0000036040" "IGHMBP2" "0000036041" "IGHMBP2" "0000036042" "IGHMBP2" "0000036043" "IGHMBP2" "0000036044" "IGHMBP2" "0000036045" "IGHMBP2" "0000036046" "IGHMBP2" "0000036047" "IGHMBP2" "0000036048" "IGHMBP2" "0000080957" "IGHMBP2" "0000080986" "IGHMBP2" "0000081120" "IGHMBP2" "0000211494" "IGHMBP2" "0000211495" "IGHMBP2" "0000211496" "IGHMBP2" "0000211497" "IGHMBP2" "0000211498" "IGHMBP2" "0000211499" "IGHMBP2" "0000211500" "IGHMBP2" "0000211501" "IGHMBP2" "0000211502" "IGHMBP2" "0000211503" "IGHMBP2" "0000211504" "IGHMBP2" "0000211505" "IGHMBP2" "0000211506" "IGHMBP2" "0000211507" "IGHMBP2" "0000211508" "IGHMBP2" "0000211509" "IGHMBP2" "0000211510" "IGHMBP2" "0000211511" "IGHMBP2" "0000211512" "IGHMBP2" "0000211513" "IGHMBP2" "0000211514" "IGHMBP2" "0000211515" "IGHMBP2" "0000211516" "IGHMBP2" "0000211517" "IGHMBP2" "0000211518" "IGHMBP2" "0000211519" "IGHMBP2" "0000211520" "IGHMBP2" "0000211521" "IGHMBP2" "0000211522" "IGHMBP2" "0000211523" "IGHMBP2" "0000211524" "IGHMBP2" "0000211525" "IGHMBP2" "0000211526" "IGHMBP2" "0000211527" "IGHMBP2" "0000211528" "IGHMBP2" "0000211529" "IGHMBP2" "0000211530" "IGHMBP2" "0000211531" "IGHMBP2" "0000211532" "IGHMBP2" "0000211533" "IGHMBP2" "0000211534" "IGHMBP2" "0000211535" "IGHMBP2" "0000211536" "IGHMBP2" "0000211537" "IGHMBP2" "0000211538" "IGHMBP2" "0000211539" "IGHMBP2" "0000211540" "IGHMBP2" "0000211541" "IGHMBP2" "0000211542" "IGHMBP2" "0000211543" "IGHMBP2" "0000211544" "IGHMBP2" "0000211545" "IGHMBP2" "0000211546" "IGHMBP2" "0000211547" "IGHMBP2" "0000211548" "IGHMBP2" "0000211549" "IGHMBP2" "0000211550" "IGHMBP2" "0000211551" "IGHMBP2" "0000211552" "IGHMBP2" "0000211553" "IGHMBP2" "0000211554" "IGHMBP2" "0000211555" "IGHMBP2" "0000211556" "IGHMBP2" "0000211557" "IGHMBP2" "0000220135" "IGHMBP2" "0000220136" "IGHMBP2" "0000220137" "IGHMBP2" "0000301118" "IGHMBP2" "0000301119" "IGHMBP2" "0000301120" "IGHMBP2" "0000301121" "IGHMBP2" "0000301122" "IGHMBP2" "0000301123" "IGHMBP2" "0000301179" "IGHMBP2" "0000301180" "IGHMBP2" "0000301181" "IGHMBP2" "0000301182" "IGHMBP2" "0000301183" "IGHMBP2" "0000301184" "IGHMBP2" "0000301185" "IGHMBP2" "0000301186" "IGHMBP2" "0000301187" "IGHMBP2" "0000301188" "IGHMBP2" "0000301227" "IGHMBP2" "0000301239" "IGHMBP2" "0000301240" "IGHMBP2" "0000301241" "IGHMBP2" "0000301245" "IGHMBP2" "0000301254" "IGHMBP2" "0000301264" "IGHMBP2" "0000306937" "IGHMBP2" "0000307274" "IGHMBP2" "0000309181" "IGHMBP2" "0000309881" "IGHMBP2" "0000375540" "IGHMBP2" "0000375541" "IGHMBP2" "0000375748" "IGHMBP2" "0000375957" "IGHMBP2" "0000376191" "CNGB3" "0000376192" "CNGB3" "0000399077" "COL6A2" "0000415682" "IGHMBP2" "0000415985" "GALT" ## 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 = 439 "{{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}}" "0000000184" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000185" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000186" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000187" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000189" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000190" "3" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000191" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000192" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000193" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000194" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000195" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000196" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000197" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000198" "3" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000199" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000200" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000208" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000209" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000210" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000211" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000212" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000213" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000214" "3" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000215" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000216" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000217" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000218" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000219" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000220" "3" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000221" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000222" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000223" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000224" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000225" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000226" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000000227" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000063156" "1" "10" "11" "68671353" "68671353" "subst" "0" "01164" "IGHMBP2_000085" "g.68671353T>C" "" "" "" "" "" "Germline" "" "rs57258566" "0" "" "" "g.68903885T>C" "" "benign" "" "0000063157" "1" "90" "11" "68685302" "68685302" "del" "0" "01164" "IGHMBP2_000086" "g.68685302del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68917834del" "" "pathogenic" "" "0000063158" "1" "10" "11" "68708110" "68708110" "subst" "0" "01164" "IGHMBP2_000087" "g.68708110G>A" "" "" "" "" "" "Germline" "" "rs12792128" "0" "" "" "g.68940642G>A" "" "benign" "" "0000063159" "1" "90" "11" "68673588" "68673588" "subst" "0.0000162425" "01164" "IGHMBP2_000026" "g.68673588T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68906120T>A" "" "pathogenic" "" "0000063160" "1" "10" "11" "68671477" "68671477" "subst" "0.770231" "01164" "IGHMBP2_000051" "g.68671477T>C" "" "" "" "" "" "Germline" "" "rs1249463" "0" "" "" "g.68904009T>C" "" "benign" "" "0000063161" "1" "50" "11" "68673690" "68673690" "subst" "0" "01164" "IGHMBP2_000088" "g.68673690T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68906222T>A" "" "VUS" "" "0000063162" "1" "10" "11" "68704028" "68704028" "subst" "0.187889" "01164" "IGHMBP2_000062" "g.68704028C>T" "" "" "" "" "" "Germline" "" "rs2236654" "0" "" "" "g.68936560C>T" "" "benign" "" "0000063163" "1" "10" "11" "68673601" "68673601" "subst" "0.00609097" "01164" "IGHMBP2_000089" "g.68673601C>G" "" "" "" "" "Segregation analysis: son is affected and has heterozygous, probably pathogenic mutations in IGHMBP2-gene: c.1082T>C; p.Leu361Pro und c.138T>A; (p.Cys46*)" "Germline" "" "rs117061430" "0" "" "" "g.68906133C>G" "" "benign" "" "0000063164" "1" "10" "11" "68701948" "68701948" "subst" "0.185973" "01164" "IGHMBP2_000060" "g.68701948C>T" "" "" "" "" "" "Germline" "" "rs11228413" "0" "" "" "g.68934480C>T" "" "benign" "" "0000063165" "1" "10" "11" "68700734" "68700734" "subst" "0.00390176" "01164" "IGHMBP2_000090" "g.68700734C>A" "" "" "" "" "" "Germline" "" "rs73527332" "0" "" "" "g.68933266C>A" "" "benign" "" "0000063166" "1" "10" "11" "68705876" "68705876" "subst" "0" "01164" "IGHMBP2_000004" "g.68705876G>A" "" "" "" "" "" "Germline" "" "rs4378405" "0" "" "" "g.68938408G>A" "" "benign" "" "0000063167" "1" "10" "11" "68682402" "68682402" "subst" "0.18275" "01164" "IGHMBP2_000055" "g.68682402A>G" "" "" "" "" "" "Germline" "" "rs10896380" "0" "" "" "g.68914934A>G" "" "benign" "" "0000063168" "1" "10" "11" "68671419" "68671419" "subst" "0.188065" "01164" "IGHMBP2_000050" "g.68671419C>T" "" "" "" "" "" "Germline" "" "rs4930624" "0" "" "" "g.68903951C>T" "" "benign" "" "0000063169" "1" "10" "11" "68678962" "68678962" "subst" "0.774442" "01164" "IGHMBP2_000054" "g.68678962T>C" "" "" "" "" "" "Germline" "" "rs560096" "0" "" "" "g.68911494T>C" "" "benign" "" "0000063170" "1" "10" "11" "68703959" "68703959" "subst" "0.292431" "01164" "IGHMBP2_000091" "g.68703959A>G" "" "" "" "" "" "Germline" "" "rs622082" "0" "" "" "g.68936491A>G" "" "benign" "" "0000063171" "1" "10" "11" "68705674" "68705674" "subst" "0.263666" "01164" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "rs17612126" "0" "" "" "g.68938206C>A" "" "benign" "" "0000063172" "1" "90" "11" "68696672" "68696672" "subst" "0.0000529286" "01164" "IGHMBP2_000022" "g.68696672T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68929204T>C" "" "pathogenic" "" "0000063173" "1" "10" "11" "68704264" "68704264" "subst" "0.292225" "01164" "IGHMBP2_000092" "g.68704264C>T" "" "" "" "" "" "Germline" "" "rs546382" "0" "" "" "g.68936796C>T" "" "benign" "" "0000130043" "3" "90" "11" "68673577" "68673577" "subst" "0.0000324847" "01758" "IGHMBP2_000042" "g.68673577C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.68906109C>T" "" "pathogenic" "ACMG" "0000130072" "3" "90" "11" "68685249" "68685249" "subst" "0.00000406075" "01758" "IGHMBP2_000043" "g.68685249C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.68917781C>T" "" "pathogenic" "ACMG" "0000130206" "3" "90" "11" "68703761" "68703761" "subst" "0.0000203229" "01758" "IGHMBP2_000038" "g.68703761C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.68936293C>T" "" "pathogenic" "ACMG" "0000246989" "0" "10" "11" "68682402" "68682402" "subst" "0.18275" "02330" "IGHMBP2_000055" "g.68682402A>G" "" "" "" "IGHMBP2(NM_002180.3):c.823A>G (p.I275V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68914934A>G" "" "benign" "" "0000246991" "0" "10" "11" "68703959" "68703959" "subst" "0.292431" "02330" "IGHMBP2_000091" "g.68703959A>G" "" "" "" "IGHMBP2(NM_002180.3):c.2011A>G (p.T671A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936491A>G" "" "benign" "" "0000247036" "0" "10" "11" "68700967" "68700967" "subst" "0.0222537" "02330" "IGHMBP2_000137" "g.68700967A>G" "" "" "" "IGHMBP2(NM_002180.3):c.1418+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68933499A>G" "" "benign" "" "0000247048" "0" "50" "11" "68678998" "68678998" "subst" "0" "02330" "IGHMBP2_000112" "g.68678998A>G" "" "" "" "IGHMBP2(NM_002180.3):c.638A>G (p.H213R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68911530A>G" "" "VUS" "" "0000247049" "0" "90" "11" "68700865" "68700865" "subst" "0.00000819706" "02330" "IGHMBP2_000134" "g.68700865A>C" "" "" "" "IGHMBP2(NM_002180.3):c.1334A>C (p.H445P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68933397A>C" "" "pathogenic" "" "0000247052" "0" "90" "11" "68702882" "68702882" "subst" "0" "02330" "IGHMBP2_000102" "g.68702882A>T" "" "" "" "IGHMBP2(NM_002180.3):c.1748A>T (p.N583I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68935414A>T" "" "pathogenic" "" "0000247053" "0" "90" "11" "68678947" "68678947" "subst" "0" "02330" "IGHMBP2_000110" "g.68678947A>G" "" "" "" "IGHMBP2(NM_002180.3):c.587A>G (p.Q196R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68911479A>G" "" "pathogenic" "" "0000247054" "0" "90" "11" "68702877" "68702877" "subst" "0" "02330" "IGHMBP2_000101" "g.68702877A>C" "" "" "" "IGHMBP2(NM_002180.3):c.1743A>C (p.R581S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68935409A>C" "" "pathogenic" "" "0000247056" "0" "90" "11" "68679021" "68679021" "subst" "0" "02330" "IGHMBP2_000114" "g.68679021A>G" "" "" "" "IGHMBP2(NM_002180.3):c.661A>G (p.T221A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68911553A>G" "" "pathogenic" "" "0000247060" "0" "90" "11" "68696828" "68696828" "subst" "0" "02330" "IGHMBP2_000130" "g.68696828A>G" "" "" "" "IGHMBP2(NM_002180.3):c.1235+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68929360A>G" "" "pathogenic" "" "0000248399" "0" "10" "11" "68682402" "68682402" "subst" "0.18275" "02325" "IGHMBP2_000055" "g.68682402A>G" "" "" "" "IGHMBP2(NM_002180.3):c.823A>G (p.I275V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68914934A>G" "" "benign" "" "0000248419" "0" "10" "11" "68703959" "68703959" "subst" "0.292431" "02325" "IGHMBP2_000091" "g.68703959A>G" "" "" "" "IGHMBP2(NM_002180.3):c.2011A>G (p.T671A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936491A>G" "" "benign" "" "0000255657" "0" "90" "11" "68696693" "68696693" "del" "0" "01943" "IGHMBP2_000124" "g.68696693del" "" "" "" "IGHMBP2(NM_002180.2):c.1103delA (p.Y368Sfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68929225del" "" "pathogenic" "" "0000277896" "0" "10" "11" "68671419" "68671419" "subst" "0.188065" "02330" "IGHMBP2_000050" "g.68671419C>T" "" "" "" "IGHMBP2(NM_002180.3):c.-2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68903951C>T" "" "benign" "" "0000277897" "0" "10" "11" "68707454" "68707454" "subst" "0" "02330" "IGHMBP2_000165" "g.68707454T>C" "" "" "" "IGHMBP2(NM_002180.3):c.*255T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68939986T>C" "" "benign" "" "0000277898" "0" "10" "11" "68707626" "68707626" "subst" "0" "02330" "IGHMBP2_000166" "g.68707626C>T" "" "" "" "IGHMBP2(NM_002180.3):c.*427C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68940158C>T" "" "benign" "" "0000277899" "0" "90" "11" "68685291" "68685291" "subst" "0" "02330" "IGHMBP2_000120" "g.68685291G>A" "" "" "" "IGHMBP2(NM_002180.3):c.1000G>A (p.E334K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68917823G>A" "" "pathogenic" "" "0000277900" "0" "90" "11" "68685352" "68685352" "subst" "0" "02330" "IGHMBP2_000122" "g.68685352G>T" "" "" "" "IGHMBP2(NM_002180.3):c.1060+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68917884G>T" "" "pathogenic" "" "0000277901" "0" "90" "11" "68685351" "68685351" "subst" "0.00000406273" "02330" "IGHMBP2_000121" "g.68685351G>A" "" "" "" "IGHMBP2(NM_002180.3):c.1060G>A (p.G354S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68917883G>A" "" "pathogenic" "" "0000277902" "0" "90" "11" "68696672" "68696672" "subst" "0.0000529286" "02330" "IGHMBP2_000022" "g.68696672T>C" "" "" "" "IGHMBP2(NM_002180.3):c.1082T>C (p.L361P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68929204T>C" "" "pathogenic" "" "0000277903" "0" "90" "11" "68696681" "68696681" "subst" "0" "02330" "IGHMBP2_000123" "g.68696681T>C" "" "" "" "IGHMBP2(NM_002180.3):c.1091T>C (p.L364P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68929213T>C" "" "pathogenic" "" "0000277904" "0" "10" "11" "68696694" "68696694" "subst" "0.00668071" "02330" "IGHMBP2_000125" "g.68696694C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1104C>T (p.Y368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68929226C>T" "" "benign" "" "0000277905" "0" "90" "11" "68696697" "68696697" "subst" "0" "02330" "IGHMBP2_000126" "g.68696697C>G" "" "" "" "IGHMBP2(NM_002180.3):c.1107C>G (p.F369L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68929229C>G" "" "pathogenic" "" "0000277906" "0" "90" "11" "68696734" "68696734" "subst" "0.00000813226" "02330" "IGHMBP2_000127" "g.68696734G>A" "" "" "" "IGHMBP2(NM_002180.3):c.1144G>A (p.E382K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68929266G>A" "" "pathogenic" "" "0000277907" "0" "90" "11" "68696746" "68696746" "subst" "0.0000284537" "02330" "IGHMBP2_000128" "g.68696746T>C" "" "" "" "IGHMBP2(NM_002180.3):c.1156T>C (p.W386R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68929278T>C" "" "pathogenic" "" "0000277908" "0" "50" "11" "68696783" "68696783" "subst" "0.0024743" "02330" "IGHMBP2_000129" "g.68696783C>T" "" "" "" "IGHMBP2(NM_002180.2):c.1193C>T (p.A398V), IGHMBP2(NM_002180.3):c.1193C>T (p.A398V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68929315C>T" "" "VUS" "" "0000277909" "0" "90" "11" "68673571" "68673571" "subst" "0" "02330" "IGHMBP2_000094" "g.68673571C>T" "" "" "" "IGHMBP2(NM_002180.3):c.121C>T (p.Q41*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68906103C>T" "" "pathogenic" "" "0000277910" "0" "30" "11" "68700757" "68700757" "subst" "0.0000930303" "02330" "IGHMBP2_000131" "g.68700757C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1236-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68933289C>T" "" "likely benign" "" "0000277911" "0" "90" "11" "68700808" "68700808" "subst" "0" "02330" "IGHMBP2_000132" "g.68700808T>C" "" "" "" "IGHMBP2(NM_002180.3):c.1277T>C (p.L426P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68933340T>C" "" "pathogenic" "" "0000277912" "0" "90" "11" "68673577" "68673577" "subst" "0.0000324847" "02330" "IGHMBP2_000042" "g.68673577C>T" "" "" "" "IGHMBP2(NM_002180.3):c.127C>T (p.R43*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68906109C>T" "" "pathogenic" "" "0000277913" "0" "90" "11" "68673588" "68673588" "subst" "0.0000162425" "02330" "IGHMBP2_000026" "g.68673588T>A" "" "" "" "IGHMBP2(NM_002180.3):c.138T>A (p.C46*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68906120T>A" "" "pathogenic" "" "0000277914" "0" "90" "11" "68700946" "68700946" "subst" "0" "02330" "IGHMBP2_000136" "g.68700946T>C" "" "" "" "IGHMBP2(NM_002180.3):c.1415T>C (p.L472P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68933478T>C" "" "pathogenic" "" "0000277915" "0" "50" "11" "68701322" "68701322" "subst" "0.0000643517" "02330" "IGHMBP2_000138" "g.68701322C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1478C>T (p.T493I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68933854C>T" "" "VUS" "" "0000277916" "0" "90" "11" "68701332" "68701332" "subst" "0.000157212" "02330" "IGHMBP2_000105" "g.68701332C>A" "" "" "" "IGHMBP2(NM_002180.2):c.1488C>A (p.C496*), IGHMBP2(NM_002180.3):c.1488C>A (p.C496*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic" "" "0000277917" "0" "10" "11" "68673601" "68673601" "subst" "0.00609097" "02330" "IGHMBP2_000089" "g.68673601C>G" "" "" "" "IGHMBP2(NM_002180.2):c.151C>G (p.Q51E), IGHMBP2(NM_002180.3):c.151C>G (p.Q51E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68906133C>G" "" "benign" "" "0000277918" "0" "90" "11" "68701934" "68701934" "subst" "0.00002567" "02330" "IGHMBP2_000139" "g.68701934G>A" "" "" "" "IGHMBP2(NM_002180.3):c.1540G>A (p.E514K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68934466G>A" "" "pathogenic" "" "0000277919" "0" "10" "11" "68701948" "68701948" "subst" "0.185973" "02330" "IGHMBP2_000060" "g.68701948C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1554C>T (p.V518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68934480C>T" "" "benign" "" "0000277920" "0" "90" "11" "68673613" "68673613" "subst" "0" "02330" "IGHMBP2_000095" "g.68673613C>T" "" "" "" "IGHMBP2(NM_002180.3):c.163C>T (p.Q55*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68906145C>T" "" "pathogenic" "" "0000277922" "0" "90" "11" "68702827" "68702827" "subst" "0.0000243686" "02330" "IGHMBP2_000142" "g.68702827G>A" "" "" "" "IGHMBP2(NM_002180.3):c.1693G>A (p.D565N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68935359G>A" "" "pathogenic" "" "0000277923" "0" "90" "11" "68702842" "68702842" "subst" "0" "02330" "IGHMBP2_000143" "g.68702842C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1708C>T (p.R570*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68935374C>T" "" "pathogenic" "" "0000277924" "0" "90" "11" "68702872" "68702872" "subst" "0.0000446755" "02330" "IGHMBP2_000144" "g.68702872G>A" "" "" "" "IGHMBP2(NM_002180.3):c.1738G>A (p.V580I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68935404G>A" "" "pathogenic" "" "0000277925" "0" "50" "11" "68702876" "68702876" "subst" "0" "02330" "IGHMBP2_000145" "g.68702876G>C" "" "" "" "IGHMBP2(NM_002180.3):c.1742G>C (p.R581T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68935408G>C" "" "VUS" "" "0000277926" "0" "90" "11" "68702890" "68702890" "subst" "0" "02330" "IGHMBP2_000146" "g.68702890G>T" "" "" "" "IGHMBP2(NM_002180.3):c.1756G>T (p.G586C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68935422G>T" "" "pathogenic" "" "0000277927" "0" "90" "11" "68703755" "68703755" "subst" "0.00000813233" "02330" "IGHMBP2_000147" "g.68703755C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1807C>T (p.R603C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936287C>T" "" "pathogenic" "" "0000277928" "0" "90" "11" "68703756" "68703756" "subst" "0.00000812988" "02330" "IGHMBP2_000148" "g.68703756G>A" "" "" "" "IGHMBP2(NM_002180.3):c.1808G>A (p.R603H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936288G>A" "" "pathogenic" "" "0000277929" "0" "10" "11" "68673630" "68673630" "subst" "0.00954268" "02330" "IGHMBP2_000096" "g.68673630C>T" "" "" "" "IGHMBP2(NM_002180.3):c.180C>T (p.Y60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68906162C>T" "" "benign" "" "0000277930" "0" "90" "11" "68703761" "68703761" "subst" "0.0000203229" "02330" "IGHMBP2_000038" "g.68703761C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1813C>T (p.R605*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936293C>T" "" "pathogenic" "" "0000277931" "0" "30" "11" "68703793" "68703793" "subst" "0.000134011" "02330" "IGHMBP2_000149" "g.68703793T>A" "" "" "" "IGHMBP2(NM_002180.3):c.1845T>A (p.R615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936325T>A" "" "likely benign" "" "0000277932" "0" "90" "11" "68703857" "68703857" "subst" "0.00000812137" "02330" "IGHMBP2_000150" "g.68703857C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1909C>T (p.R637C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936389C>T" "" "pathogenic" "" "0000277933" "0" "90" "11" "68703917" "68703917" "subst" "0" "02330" "IGHMBP2_000151" "g.68703917C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1969C>T (p.Q657*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936449C>T" "" "pathogenic" "" "0000277934" "0" "10" "11" "68704028" "68704028" "subst" "0.187889" "02330" "IGHMBP2_000062" "g.68704028C>T" "" "" "" "IGHMBP2(NM_002180.3):c.2080C>T (p.R694W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936560C>T" "" "benign" "" "0000277935" "0" "10" "11" "68704207" "68704207" "subst" "0.0000121933" "02330" "IGHMBP2_000152" "g.68704207C>T" "" "" "" "IGHMBP2(NM_002180.3):c.2259C>T (p.H753=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936739C>T" "" "benign" "" "0000277936" "0" "10" "11" "68704264" "68704264" "subst" "0.292225" "02330" "IGHMBP2_000092" "g.68704264C>T" "" "" "" "IGHMBP2(NM_002180.3):c.2316C>T (p.S772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936796C>T" "" "benign" "" "0000277937" "0" "50" "11" "68704265" "68704265" "subst" "0.0000325304" "02330" "IGHMBP2_000153" "g.68704265G>A" "" "" "" "IGHMBP2(NM_002180.3):c.2317G>A (p.G773R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936797G>A" "" "VUS" "" "0000277938" "0" "50" "11" "68704308" "68704308" "subst" "0.000634082" "02330" "IGHMBP2_000154" "g.68704308C>T" "" "" "" "IGHMBP2(NM_002180.3):c.2360C>T (p.P787L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936840C>T" "" "VUS" "" "0000277939" "0" "90" "11" "68704310" "68704310" "subst" "0.0000327646" "02330" "IGHMBP2_000107" "g.68704310C>T" "" "" "" "IGHMBP2(NM_002180.3):c.2362C>T (p.R788*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936842C>T" "" "pathogenic" "" "0000277940" "0" "90" "11" "68704316" "68704316" "subst" "0.0000123057" "02330" "IGHMBP2_000155" "g.68704316C>T" "" "" "" "IGHMBP2(NM_002180.3):c.2368C>T (p.R790*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936848C>T" "" "pathogenic" "" "0000277941" "0" "10" "11" "68704480" "68704480" "subst" "0.000155213" "02330" "IGHMBP2_000156" "g.68704480G>T" "" "" "" "IGHMBP2(NM_002180.3):c.2532G>T (p.A844=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68937012G>T" "" "benign" "" "0000277942" "0" "10" "11" "68673715" "68673715" "subst" "0.00499821" "02330" "IGHMBP2_000097" "g.68673715G>A" "" "" "" "IGHMBP2(NM_002180.2):c.256+9G>A, IGHMBP2(NM_002180.3):c.256+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68906247G>A" "" "benign" "" "0000277943" "0" "70" "11" "68704546" "68704549" "del" "0" "02330" "IGHMBP2_000157" "g.68704546_68704549del" "" "" "" "IGHMBP2(NM_002180.3):c.2598_2601delGAAA (p.K868Pfs*109)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68937078_68937081del" "" "likely pathogenic" "" "0000277944" "0" "70" "11" "68704549" "68704552" "del" "0" "02330" "IGHMBP2_000158" "g.68704549_68704552del" "" "" "" "IGHMBP2(NM_002180.3):c.2601_2604delAAAA (p.K868Pfs*109)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68937081_68937084del" "" "likely pathogenic" "" "0000277945" "0" "90" "11" "68704560" "68704560" "subst" "0.0000135545" "02330" "IGHMBP2_000159" "g.68704560G>T" "" "" "" "IGHMBP2(NM_002180.3):c.2611+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68937092G>T" "" "pathogenic" "" "0000277946" "0" "10" "11" "68705674" "68705674" "subst" "0.263666" "02330" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "IGHMBP2(NM_002180.3):c.2636C>A (p.T879K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68938206C>A" "" "benign" "" "0000277947" "0" "50" "11" "68705684" "68705684" "subst" "0.0000528005" "02330" "IGHMBP2_000161" "g.68705684C>A" "" "" "" "IGHMBP2(NM_002180.3):c.2646C>A (p.D882E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68938216C>A" "" "VUS" "" "0000277948" "0" "10" "11" "68705705" "68705705" "subst" "0.0000243706" "02330" "IGHMBP2_000162" "g.68705705C>T" "" "" "" "IGHMBP2(NM_002180.3):c.2667C>T (p.A889=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68938237C>T" "" "benign" "" "0000277949" "0" "10" "11" "68705876" "68705876" "subst" "0" "02330" "IGHMBP2_000004" "g.68705876G>A" "" "" "" "IGHMBP2(NM_002180.3):c.2784+54G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68938408G>A" "" "benign" "" "0000277950" "0" "90" "11" "68707128" "68707129" "del" "0" "02330" "IGHMBP2_000163" "g.68707128_68707129del" "" "" "" "IGHMBP2(NM_002180.2):c.2911_2912delAG (p.R971Efs*4), IGHMBP2(NM_002180.3):c.2911_2912delAG (p.R971Efs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68939660_68939661del" "" "pathogenic" "" "0000277951" "0" "50" "11" "68707139" "68707139" "subst" "0.00102256" "02330" "IGHMBP2_000164" "g.68707139T>G" "" "" "" "IGHMBP2(NM_002180.3):c.2922T>G (p.D974E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68939671T>G" "" "VUS" "" "0000277952" "0" "90" "11" "68675744" "68675744" "subst" "0" "02330" "IGHMBP2_000098" "g.68675744C>T" "" "" "" "IGHMBP2(NM_002180.3):c.388C>T (p.R130*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68908276C>T" "" "pathogenic" "" "0000277953" "0" "90" "11" "68675795" "68675795" "subst" "0.00000406114" "02330" "IGHMBP2_000099" "g.68675795C>T" "" "" "" "IGHMBP2(NM_002180.3):c.439C>T (p.R147*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68908327C>T" "" "pathogenic" "" "0000277954" "0" "90" "11" "68671470" "68671470" "subst" "0" "02330" "IGHMBP2_000093" "g.68671470T>C" "" "" "" "IGHMBP2(NM_002180.3):c.50T>C (p.L17P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68904002T>C" "" "pathogenic" "" "0000277955" "0" "90" "11" "68678935" "68678935" "subst" "0" "02330" "IGHMBP2_000100" "g.68678935T>C" "" "" "" "IGHMBP2(NM_002180.3):c.575T>C (p.L192P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68911467T>C" "" "pathogenic" "" "0000277956" "0" "10" "11" "68671477" "68671477" "subst" "0.770231" "02330" "IGHMBP2_000051" "g.68671477T>C" "" "" "" "IGHMBP2(NM_002180.3):c.57T>C (p.L19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68904009T>C" "" "benign" "" "0000277957" "0" "10" "11" "68678962" "68678962" "subst" "0.774442" "02330" "IGHMBP2_000054" "g.68678962T>C" "" "" "" "IGHMBP2(NM_002180.3):c.602T>C (p.L201S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68911494T>C" "" "benign" "" "0000277958" "0" "90" "11" "68678976" "68678976" "subst" "0" "02330" "IGHMBP2_000111" "g.68678976C>T" "" "" "" "IGHMBP2(NM_002180.3):c.616C>T (p.Q206*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68911508C>T" "" "pathogenic" "" "0000277959" "0" "90" "11" "68679007" "68679007" "subst" "0" "02330" "IGHMBP2_000113" "g.68679007C>T" "" "" "" "IGHMBP2(NM_002180.3):c.647C>T (p.P216L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68911539C>T" "" "pathogenic" "" "0000277960" "0" "90" "11" "68679067" "68679067" "subst" "0.00000406114" "02330" "IGHMBP2_000115" "g.68679067T>G" "" "" "" "IGHMBP2(NM_002180.3):c.707T>G (p.L236*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68911599T>G" "" "pathogenic" "" "0000277961" "0" "90" "11" "68682300" "68682300" "subst" "0" "02330" "IGHMBP2_000116" "g.68682300T>C" "" "" "" "IGHMBP2(NM_002180.3):c.721T>C (p.C241R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68914832T>C" "" "pathogenic" "" "0000277962" "0" "10" "11" "68682320" "68682320" "subst" "0.00672799" "02330" "IGHMBP2_000117" "g.68682320C>T" "" "" "" "IGHMBP2(NM_002180.3):c.741C>T (p.A247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68914852C>T" "" "benign" "" "0000277963" "0" "90" "11" "68682331" "68682331" "subst" "0" "02330" "IGHMBP2_000118" "g.68682331T>C" "" "" "" "IGHMBP2(NM_002180.3):c.752T>C (p.L251P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68914863T>C" "" "pathogenic" "" "0000277964" "0" "90" "11" "68682483" "68682483" "subst" "0.00000407047" "02330" "IGHMBP2_000119" "g.68682483C>T" "" "" "" "IGHMBP2(NM_002180.2):c.904C>T (p.Q302*), IGHMBP2(NM_002180.3):c.904C>T (p.Q302*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68915015C>T" "" "pathogenic" "" "0000277965" "0" "90" "11" "68685249" "68685249" "subst" "0.00000406075" "02330" "IGHMBP2_000043" "g.68685249C>T" "" "" "" "IGHMBP2(NM_002180.3):c.958C>T (p.R320*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68917781C>T" "" "pathogenic" "" "0000281494" "0" "10" "11" "68671419" "68671419" "subst" "0.188065" "02325" "IGHMBP2_000050" "g.68671419C>T" "" "" "" "IGHMBP2(NM_002180.3):c.-2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68903951C>T" "" "benign" "" "0000281495" "0" "10" "11" "68701948" "68701948" "subst" "0.185973" "02325" "IGHMBP2_000060" "g.68701948C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1554C>T (p.V518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68934480C>T" "" "benign" "" "0000281496" "0" "10" "11" "68704028" "68704028" "subst" "0.187889" "02325" "IGHMBP2_000062" "g.68704028C>T" "" "" "" "IGHMBP2(NM_002180.3):c.2080C>T (p.R694W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936560C>T" "" "benign" "" "0000281497" "0" "10" "11" "68704264" "68704264" "subst" "0.292225" "02325" "IGHMBP2_000092" "g.68704264C>T" "" "" "" "IGHMBP2(NM_002180.3):c.2316C>T (p.S772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936796C>T" "" "benign" "" "0000281498" "0" "10" "11" "68671477" "68671477" "subst" "0.770231" "02325" "IGHMBP2_000051" "g.68671477T>C" "" "" "" "IGHMBP2(NM_002180.3):c.57T>C (p.L19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68904009T>C" "" "benign" "" "0000281499" "0" "10" "11" "68678962" "68678962" "subst" "0.774442" "02325" "IGHMBP2_000054" "g.68678962T>C" "" "" "" "IGHMBP2(NM_002180.3):c.602T>C (p.L201S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68911494T>C" "" "benign" "" "0000285175" "0" "30" "11" "68673601" "68673601" "subst" "0.00609097" "02326" "IGHMBP2_000089" "g.68673601C>G" "" "" "" "IGHMBP2(NM_002180.2):c.151C>G (p.Q51E), IGHMBP2(NM_002180.3):c.151C>G (p.Q51E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68906133C>G" "" "likely benign" "" "0000285176" "0" "10" "11" "68673715" "68673715" "subst" "0.00499821" "02326" "IGHMBP2_000097" "g.68673715G>A" "" "" "" "IGHMBP2(NM_002180.2):c.256+9G>A, IGHMBP2(NM_002180.3):c.256+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68906247G>A" "" "benign" "" "0000285177" "0" "70" "11" "68682483" "68682483" "subst" "0.00000407047" "02326" "IGHMBP2_000119" "g.68682483C>T" "" "" "" "IGHMBP2(NM_002180.2):c.904C>T (p.Q302*), IGHMBP2(NM_002180.3):c.904C>T (p.Q302*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68915015C>T" "" "likely pathogenic" "" "0000289521" "0" "30" "11" "68700826" "68700826" "subst" "0.0000862862" "01943" "IGHMBP2_000133" "g.68700826C>T" "" "" "" "IGHMBP2(NM_002180.2):c.1295C>T (p.A432V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68933358C>T" "" "likely benign" "" "0000289522" "0" "50" "11" "68700879" "68700879" "subst" "0.00000820035" "01943" "IGHMBP2_000135" "g.68700879C>T" "" "" "" "IGHMBP2(NM_002180.2):c.1348C>T (p.R450C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68933411C>T" "" "VUS" "" "0000289523" "0" "30" "11" "68702803" "68702803" "subst" "0.000231555" "01943" "IGHMBP2_000141" "g.68702803C>G" "" "" "" "IGHMBP2(NM_002180.2):c.1669C>G (p.P557A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68935335C>G" "" "likely benign" "" "0000289524" "0" "50" "11" "68705674" "68705674" "subst" "0.0000487361" "01943" "IGHMBP2_000160" "g.68705674C>T" "" "" "" "IGHMBP2(NM_002180.2):c.2636C>T (p.T879M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68938206C>T" "" "VUS" "" "0000340842" "0" "10" "11" "68671477" "68671477" "subst" "0.770231" "02327" "IGHMBP2_000051" "g.68671477T>C" "" "" "" "IGHMBP2(NM_002180.3):c.57T>C (p.L19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68904009T>C" "" "benign" "" "0000340975" "0" "10" "11" "68704264" "68704264" "subst" "0.292225" "02327" "IGHMBP2_000092" "g.68704264C>T" "" "" "" "IGHMBP2(NM_002180.3):c.2316C>T (p.S772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936796C>T" "" "benign" "" "0000341042" "0" "30" "11" "68700821" "68700821" "subst" "0.000617325" "02327" "IGHMBP2_000104" "g.68700821C>T" "" "" "" "IGHMBP2(NM_002180.2):c.1290C>T (p.Y430=), IGHMBP2(NM_002180.3):c.1290C>T (p.Y430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68933353C>T" "" "likely benign" "" "0000343361" "0" "90" "11" "68704310" "68704310" "subst" "0.0000327646" "02327" "IGHMBP2_000107" "g.68704310C>T" "" "" "" "IGHMBP2(NM_002180.3):c.2362C>T (p.R788*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936842C>T" "" "pathogenic" "" "0000344406" "0" "90" "11" "68701332" "68701332" "subst" "0.000157212" "02327" "IGHMBP2_000105" "g.68701332C>A" "" "" "" "IGHMBP2(NM_002180.2):c.1488C>A (p.C496*), IGHMBP2(NM_002180.3):c.1488C>A (p.C496*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic" "" "0000346194" "0" "50" "11" "68673631" "68673631" "subst" "0.00000812156" "02327" "IGHMBP2_000103" "g.68673631G>C" "" "" "" "IGHMBP2(NM_002180.2):c.181G>C (p.(Gly61Arg)), IGHMBP2(NM_002180.3):c.181G>C (p.G61R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68906163G>C" "" "VUS" "" "0000346977" "0" "10" "11" "68678962" "68678962" "subst" "0.774442" "02327" "IGHMBP2_000054" "g.68678962T>C" "" "" "" "IGHMBP2(NM_002180.3):c.602T>C (p.L201S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68911494T>C" "" "benign" "" "0000349597" "0" "10" "11" "68703959" "68703959" "subst" "0.292431" "02327" "IGHMBP2_000091" "g.68703959A>G" "" "" "" "IGHMBP2(NM_002180.3):c.2011A>G (p.T671A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68936491A>G" "" "benign" "" "0000349647" "0" "10" "11" "68705674" "68705674" "subst" "0.263666" "02327" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "IGHMBP2(NM_002180.3):c.2636C>A (p.T879K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68938206C>A" "" "benign" "" "0000438826" "0" "50" "11" "68704244" "68704244" "subst" "0.00000813001" "01164" "IGHMBP2_000167" "g.68704244G>A" "" "" "" "" "patient has a likely pathogenic variant in MYOT" "Germline" "" "rs201989968" "0" "" "" "g.68936776G>A" "" "VUS" "ACMG" "0000439030" "0" "90" "11" "68673588" "68673588" "subst" "0.0000162425" "01164" "IGHMBP2_000026" "g.68673588T>A" "" "" "" "" "ACMG grading: PVS1,PP5,PM2; no second variant in IGHMBP2 detected" "Germline" "" "rs372000714" "0" "" "" "g.68906120T>A" "" "pathogenic" "ACMG" "0000440089" "0" "50" "11" "68675633" "68675633" "subst" "0.0000731315" "01164" "IGHMBP2_000168" "g.68675633G>A" "" "" "" "" "" "Germline" "" "rs200897747" "0" "" "" "g.68908165G>A" "" "VUS" "ACMG" "0000442991" "0" "10" "11" "68705674" "68705674" "subst" "0.263666" "00503" "IGHMBP2_000003" "g.68705674C>A" "" "{PMID:Grohmann, 2001:11528396}" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "benign" "" "0000442992" "21" "90" "11" "68673571" "68673571" "subst" "0" "00503" "IGHMBP2_000001" "g.68673571C>T" "" "{PMID:Grohmann, 2001:11528396}; {PMID:Grohmann, 2003:14681881}; {PMID:Diers, 2005:16025284}" "" "" "" "Germline" "" "" "0" "" "" "g.68906103C>T" "" "pathogenic (recessive)" "" "0000442993" "11" "90" "11" "68679035" "68679035" "del" "0" "00503" "IGHMBP2_000002" "g.68679035del" "" "{PMID:Grohmann, 2001:11528396}; {PMID:Grohmann, 2003:14681881}; {PMID:Diers, 2005:16025284}" "" "" "" "Germline" "" "" "0" "" "" "g.68911567del" "" "pathogenic (recessive)" "" "0000442994" "0" "10" "11" "68705876" "68705876" "subst" "0" "00503" "IGHMBP2_000004" "g.68705876G>A" "" "{PMID:Grohmann, 2001:11528396}" "" "" "" "Germline" "" "rs4378405" "0" "" "" "g.68938408G>A" "" "benign" "" "0000442995" "0" "10" "11" "68705674" "68705674" "subst" "0.263666" "00503" "IGHMBP2_000003" "g.68705674C>A" "" "{PMID:Grohmann, 2001:11528396}" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "benign" "" "0000442996" "11" "90" "11" "68679067" "68679067" "subst" "0.00000406114" "00503" "IGHMBP2_000011" "g.68679067T>G" "" "{PMID:Grohmann, 2001:11528396}; {PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68911599T>G" "" "pathogenic (recessive)" "" "0000442997" "21" "90" "11" "68679067" "68679067" "subst" "0.00000406114" "00503" "IGHMBP2_000011" "g.68679067T>G" "" "{PMID:Grohmann, 2001:11528396}; {PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68911599T>G" "" "pathogenic (recessive)" "" "0000442998" "0" "10" "11" "68671285" "68671286" "ins" "0" "00503" "IGHMBP2_000006" "g.68671285_68671286insCGCCATCTTCCCGC" "" "{PMID:Grohmann, 2001:11528396}" "" "" "" "Germline" "" "" "0" "" "" "g.68903817_68903818insCGCCATCTTCCCGC" "" "benign" "" "0000442999" "11" "90" "11" "68704560" "68704560" "subst" "0.0000135545" "00503" "IGHMBP2_000005" "g.68704560G>T" "" "{PMID:Grohmann, 2001:11528396}; {PMID:Grohmann, 2003:14681881}" "" "" "not in 50 controls; affects donor splice site (bioinformatic prediciton)" "Germline" "" "" "0" "" "" "g.68937092G>T" "" "pathogenic (recessive)" "" "0000443000" "21" "90" "11" "68704560" "68704560" "subst" "0.0000135545" "00503" "IGHMBP2_000005" "g.68704560G>T" "" "{PMID:Grohmann, 2001:11528396}; {PMID:Grohmann, 2003:14681881}" "" "" "not in 50 controls; affects donor splice site (bioinformatic prediciton)" "Germline" "" "" "0" "" "" "g.68937092G>T" "" "pathogenic (recessive)" "" "0000443001" "0" "10" "11" "68671285" "68671286" "ins" "0" "00503" "IGHMBP2_000006" "g.68671285_68671286insCGCCATCTTCCCGC" "" "{PMID:Grohmann, 2001:11528396}" "" "" "" "Germline" "" "" "0" "" "" "g.68903817_68903818insCGCCATCTTCCCGC" "" "benign" "" "0000443002" "21" "90" "11" "68702872" "68702872" "subst" "0.0000446755" "00503" "IGHMBP2_000007" "g.68702872G>A" "" "{PMID:Grohmann, 2001:11528396}; {PMID:Grohmann, 2003:14681881}; {PMID:Diers, 2005:16025284}" "" "" "not in 50 controls" "Germline" "" "" "0" "" "" "g.68935404G>A" "" "pathogenic (recessive)" "" "0000443003" "11" "90" "11" "68702872" "68702872" "subst" "0.0000446755" "00503" "IGHMBP2_000007" "g.68702872G>A" "" "{PMID:Grohmann, 2001:11528396}; {PMID:Grohmann, 2003:14681881}; {PMID:Diers, 2005:16025284}" "" "" "not in 50 controls" "Germline" "" "" "0" "" "" "g.68935404G>A" "" "pathogenic (recessive)" "" "0000443004" "0" "10" "11" "68705876" "68705876" "subst" "0" "00503" "IGHMBP2_000004" "g.68705876G>A" "" "{PMID:Grohmann, 2001:11528396}" "" "" "" "Germline" "" "rs4378405" "0" "" "" "g.68938408G>A" "" "benign" "" "0000443005" "0" "10" "11" "68673630" "68673630" "subst" "0.00954268" "00503" "IGHMBP2_000009" "g.68673630C>T" "" "{PMID:Grohmann, 2001:11528396}" "" "" "" "Germline" "" "" "0" "" "" "g.68906162C>T" "" "benign" "" "0000443006" "0" "10" "11" "68705674" "68705674" "subst" "0.263666" "00503" "IGHMBP2_000003" "g.68705674C>A" "" "{PMID:Grohmann, 2001:11528396}" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "benign" "" "0000443007" "11" "90" "11" "68678998" "68678998" "subst" "0" "00503" "IGHMBP2_000008" "g.68678998A>G" "" "{PMID:Grohmann, 2001:11528396}; {PMID:Grohmann, 2003:14681881}" "" "" "not in 50 controls" "Germline" "" "" "0" "" "" "g.68911530A>G" "" "pathogenic (recessive)" "" "0000443008" "21" "90" "11" "68678998" "68678998" "subst" "0" "00503" "IGHMBP2_000008" "g.68678998A>G" "" "{PMID:Grohmann, 2001:11528396}; {PMID:Grohmann, 2003:14681881}" "" "" "not in 50 controls" "Germline" "" "" "0" "" "" "g.68911530A>G" "" "pathogenic (recessive)" "" "0000443009" "21" "90" "11" "68701934" "68701934" "subst" "0.00002567" "00503" "IGHMBP2_000010" "g.68701934G>A" "" "{PMID:Grohmann, 2001:11528396}; {PMID:Grohmann, 2003:14681881}; {PMID:Diers, 2005:16025284}" "" "" "not in 50 controls" "Germline" "" "" "0" "" "" "g.68934466G>A" "" "pathogenic (recessive)" "" "0000443010" "11" "90" "11" "68701934" "68701934" "subst" "0.00002567" "00503" "IGHMBP2_000010" "g.68701934G>A" "" "{PMID:Grohmann, 2001:11528396}; {PMID:Grohmann, 2003:14681881}; {PMID:Diers, 2005:16025284}" "" "" "not in 50 controls" "Germline" "" "" "0" "" "" "g.68934466G>A" "" "pathogenic (recessive)" "" "0000443011" "0" "90" "11" "68701332" "68701332" "subst" "0.000157212" "00503" "IGHMBP2_000012" "g.68701332C>A" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic" "" "0000443012" "0" "90" "11" "68701332" "68701332" "subst" "0.000157212" "00503" "IGHMBP2_000012" "g.68701332C>A" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic" "" "0000443013" "0" "90" "11" "68673564" "68673564" "del" "0" "00503" "IGHMBP2_000013" "g.68673564del" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68906096del" "" "pathogenic" "" "0000443014" "0" "90" "11" "68673564" "68673564" "del" "0" "00503" "IGHMBP2_000013" "g.68673564del" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68906096del" "" "pathogenic" "" "0000443015" "0" "90" "11" "68685274" "68685278" "del" "0" "00503" "IGHMBP2_000014" "g.68685274_68685278del" "" "{PMID:Grohmann, 2003:14681881}" "" "983delAAGAA" "" "Germline" "" "" "0" "" "" "g.68917806_68917810del" "" "pathogenic" "" "0000443016" "0" "90" "11" "68685274" "68685278" "del" "0" "00503" "IGHMBP2_000014" "g.68685274_68685278del" "" "{PMID:Grohmann, 2003:14681881}" "" "983delAAGAA" "" "Germline" "" "" "0" "" "" "g.68917806_68917810del" "" "pathogenic" "" "0000443017" "0" "90" "11" "68700808" "68700808" "subst" "0" "00503" "IGHMBP2_000016" "g.68700808T>C" "" "{PMID:Grohmann, 2003:14681881}; {PMID:Diers, 2005:16025284}" "" "" "not in 60 controls" "Germline" "" "" "0" "" "" "g.68933340T>C" "" "pathogenic" "" "0000443018" "0" "90" "11" "68678935" "68678935" "subst" "0" "00503" "IGHMBP2_000015" "g.68678935T>C" "" "{PMID:Grohmann, 2003:14681881}; {PMID:Diers, 2005:16025284}" "" "" "not in 60 controls" "Germline" "" "" "0" "" "" "g.68911467T>C" "" "pathogenic" "" "0000443019" "0" "90" "11" "68696734" "68696734" "subst" "0.00000813226" "00503" "IGHMBP2_000018" "g.68696734G>A" "" "{PMID:Grohmann, 2003:14681881}" "" "" "not in 60 controls" "Germline" "" "" "0" "" "" "g.68929266G>A" "" "pathogenic" "" "0000443020" "0" "90" "11" "68675744" "68675744" "subst" "0" "00503" "IGHMBP2_000017" "g.68675744C>T" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68908276C>T" "" "pathogenic" "" "0000443021" "0" "90" "11" "68702848" "68702850" "del" "0" "00503" "IGHMBP2_000019" "g.68702848_68702850del" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68935380_68935382del" "" "pathogenic" "" "0000443022" "0" "90" "11" "68707139" "68707139" "subst" "0.00102256" "00503" "IGHMBP2_000020" "g.68707139T>G" "" "{PMID:Grohmann, 2003:14681881}" "" "" "not in 60 controls" "Germline" "" "" "0" "" "" "g.68939671T>G" "" "pathogenic" "" "0000443023" "0" "90" "11" "68704310" "68704310" "subst" "0.0000327646" "00503" "IGHMBP2_000021" "g.68704310C>T" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68936842C>T" "" "pathogenic" "" "0000443024" "0" "50" "11" "0" "0" "" "0" "00503" "IGHMBP2_000000" "g.?" "" "" "" "" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000443025" "0" "90" "11" "68696672" "68696672" "subst" "0.0000529286" "00503" "IGHMBP2_000022" "g.68696672T>C" "" "{PMID:Grohmann, 2003:14681881}" "" "" "not in 60 controls" "Germline" "" "" "0" "" "" "g.68929204T>C" "" "pathogenic" "" "0000443026" "0" "90" "11" "68702864" "68702864" "subst" "0.00000406101" "00503" "IGHMBP2_000023" "g.68702864T>C" "" "{PMID:Grohmann, 2003:14681881}" "" "" "not in 60 controls" "Germline" "" "" "0" "" "" "g.68935396T>C" "" "pathogenic" "" "0000443027" "0" "90" "11" "68701332" "68701332" "subst" "0.000157212" "00503" "IGHMBP2_000012" "g.68701332C>A" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic" "" "0000443028" "0" "90" "11" "68703756" "68703756" "subst" "0.00000812988" "00503" "IGHMBP2_000024" "g.68703756G>A" "" "{PMID:Grohmann, 2003:14681881}" "" "" "not in 60 controls" "Germline" "" "" "0" "" "" "g.68936288G>A" "" "pathogenic" "" "0000443029" "0" "90" "11" "68701332" "68701332" "subst" "0.000157212" "00503" "IGHMBP2_000012" "g.68701332C>A" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic" "" "0000443030" "0" "90" "11" "68702882" "68702882" "subst" "0" "00503" "IGHMBP2_000025" "g.68702882A>T" "" "{PMID:Grohmann, 2003:14681881}" "" "" "not in 60 controls" "Germline" "" "" "0" "" "" "g.68935414A>T" "" "pathogenic" "" "0000443031" "0" "90" "11" "68673588" "68673588" "subst" "0.0000162425" "00503" "IGHMBP2_000026" "g.68673588T>A" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68906120T>A" "" "pathogenic" "" "0000443032" "0" "90" "11" "68702782" "68702782" "dup" "0" "00503" "IGHMBP2_000027" "g.68702782dup" "" "{PMID:Grohmann, 2003:14681881}" "" "1649insC" "" "Germline" "" "" "0" "" "" "g.68935314dup" "" "pathogenic" "" "0000443033" "0" "90" "11" "68701332" "68701332" "subst" "0.000157212" "00503" "IGHMBP2_000012" "g.68701332C>A" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic" "" "0000443034" "0" "90" "11" "68675795" "68675795" "subst" "0.00000406114" "00503" "IGHMBP2_000028" "g.68675795C>T" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68908327C>T" "" "pathogenic" "" "0000443035" "0" "90" "11" "68701934" "68701934" "subst" "0.00002567" "00503" "IGHMBP2_000010" "g.68701934G>A" "" "{PMID:Grohmann, 2003:14681881}" "" "" "not in 60 controls" "Germline" "" "" "0" "" "" "g.68934466G>A" "" "pathogenic" "" "0000443036" "0" "90" "11" "68679067" "68679067" "subst" "0.00000406114" "00503" "IGHMBP2_000011" "g.68679067T>G" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68911599T>G" "" "pathogenic" "" "0000443037" "0" "90" "11" "68701332" "68701332" "subst" "0.000157212" "00503" "IGHMBP2_000012" "g.68701332C>A" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic" "" "0000443038" "0" "90" "11" "68701332" "68701332" "subst" "0.000157212" "00503" "IGHMBP2_000012" "g.68701332C>A" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic" "" "0000443039" "0" "90" "11" "68679067" "68679067" "subst" "0.00000406114" "00503" "IGHMBP2_000011" "g.68679067T>G" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68911599T>G" "" "pathogenic" "" "0000443040" "0" "90" "11" "68682300" "68682300" "subst" "0" "00503" "IGHMBP2_000029" "g.68682300T>C" "" "{PMID:Grohmann, 2003:14681881}" "" "" "not in 60 controls" "Germline" "" "" "0" "" "" "g.68914832T>C" "" "pathogenic" "" "0000443041" "0" "90" "11" "68673571" "68673571" "del" "0" "00503" "IGHMBP2_000030" "g.68673571del" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68906103del" "" "pathogenic" "" "0000443042" "0" "90" "11" "68675744" "68675744" "subst" "0" "00503" "IGHMBP2_000017" "g.68675744C>T" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68908276C>T" "" "pathogenic" "" "0000443043" "21" "90" "11" "68685274" "68685278" "del" "0" "00503" "IGHMBP2_000014" "g.68685274_68685278del" "" "{PMID:Grohmann, 2003:14681881}; {PMID:Guenther, 2004:15290238}" "" "983delAAGAA" "" "Germline" "" "" "0" "" "" "g.68917806_68917810del" "" "pathogenic (recessive)" "" "0000443045" "0" "90" "11" "68685291" "68685291" "subst" "0" "00503" "IGHMBP2_000031" "g.68685291G>A" "" "{PMID:Grohmann, 2003:14681881}" "" "" "not in 60 controls" "Germline" "" "" "0" "" "" "g.68917823G>A" "" "pathogenic" "" "0000443046" "0" "90" "11" "68685291" "68685291" "subst" "0" "00503" "IGHMBP2_000031" "g.68685291G>A" "" "{PMID:Grohmann, 2003:14681881}" "" "" "not in 60 controls" "Germline" "" "" "0" "" "" "g.68917823G>A" "" "pathogenic" "" "0000443047" "0" "90" "11" "68696681" "68696681" "subst" "0" "00503" "IGHMBP2_000032" "g.68696681T>C" "" "{PMID:Grohmann, 2003:14681881}" "" "" "not in 60 controls" "Germline" "" "" "0" "" "" "g.68929213T>C" "" "pathogenic" "" "0000443048" "0" "90" "11" "68704384" "68704384" "del" "0" "00503" "IGHMBP2_000033" "g.68704384del" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68936916del" "" "pathogenic" "" "0000443049" "0" "90" "11" "68702827" "68702827" "subst" "0.0000243686" "00503" "IGHMBP2_000034" "g.68702827G>A" "" "{PMID:Grohmann, 2003:14681881}" "" "" "not in 60 controls" "Germline" "" "" "0" "" "" "g.68935359G>A" "" "pathogenic" "" "0000443050" "0" "90" "11" "68702864" "68702864" "subst" "0.00000406101" "00503" "IGHMBP2_000023" "g.68702864T>C" "" "{PMID:Grohmann, 2003:14681881}" "" "" "not in 60 controls" "Germline" "" "" "0" "" "" "g.68935396T>C" "" "pathogenic" "" "0000443051" "0" "90" "11" "68702890" "68702890" "subst" "0" "00503" "IGHMBP2_000035" "g.68702890G>T" "" "{PMID:Grohmann, 2003:14681881}" "" "" "not in 60 controls; might affect donor splice site (bioinformatic prediction)" "Germline" "" "" "0" "" "" "g.68935422G>T" "" "pathogenic" "" "0000443052" "0" "90" "11" "68703857" "68703857" "subst" "0.00000812137" "00503" "IGHMBP2_000036" "g.68703857C>T" "" "{PMID:Grohmann, 2003:14681881}" "" "" "not in 60 controls" "Germline" "" "" "0" "" "" "g.68936389C>T" "" "pathogenic" "" "0000443053" "0" "90" "11" "68704310" "68704310" "subst" "0.0000327646" "00503" "IGHMBP2_000021" "g.68704310C>T" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68936842C>T" "" "pathogenic" "" "0000443054" "0" "90" "11" "68675795" "68675795" "subst" "0.00000406114" "00503" "IGHMBP2_000028" "g.68675795C>T" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68908327C>T" "" "pathogenic" "" "0000443055" "0" "90" "11" "68703761" "68703761" "subst" "0.0000203229" "00503" "IGHMBP2_000038" "g.68703761C>T" "" "{PMID:Grohmann, 2003:14681881}" "" "" "" "Germline" "" "" "0" "" "" "g.68936293C>T" "" "pathogenic" "" "0000443056" "0" "90" "11" "68679021" "68679021" "subst" "0" "00503" "IGHMBP2_000037" "g.68679021A>G" "" "{PMID:Grohmann, 2003:14681881}" "" "" "not in 60 controls" "Germline" "" "" "0" "" "" "g.68911553A>G" "" "pathogenic" "" "0000443057" "0" "90" "11" "68696672" "68696672" "subst" "0.0000529286" "00503" "IGHMBP2_000022" "g.68696672T>C" "" "{PMID:Pitt, 2003:14506069}" "" "Leu 361 Pro, base 1082 ctg ccg" "" "Germline" "" "" "0" "" "" "g.68929204T>C" "" "pathogenic" "" "0000443058" "0" "90" "11" "68701332" "68701332" "subst" "0.000157212" "00503" "IGHMBP2_000012" "g.68701332C>A" "" "{PMID:Pitt, 2003:14506069}" "" "Cys 496 Stop, base 1488 tgc to tga" "" "Germline" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic" "" "0000443059" "0" "90" "11" "68679021" "68679021" "del" "0" "00503" "IGHMBP2_000039" "g.68679021del" "" "{PMID:Pitt, 2003:14506069}" "" "Del A base 661" "" "Germline" "" "" "0" "" "" "g.68911553del" "" "pathogenic" "" "0000443060" "0" "50" "11" "0" "0" "" "0" "00503" "IGHMBP2_000000" "g.?" "" "" "" "" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000443061" "0" "90" "11" "68685274" "68685275" "del" "0" "00503" "IGHMBP2_000040" "g.68685274_68685275del" "" "{PMID:Pitt, 2003:14506069}" "" "Del AA base 983/984" "" "Germline" "" "" "0" "" "" "g.68917806_68917807del" "" "pathogenic" "" "0000443062" "0" "50" "11" "0" "0" "" "0" "00503" "IGHMBP2_000000" "g.?" "" "" "" "" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000443063" "0" "90" "11" "68701307" "68701307" "del" "0" "00503" "IGHMBP2_000041" "g.68701307del" "" "{PMID:Pitt, 2003:14506069}" "" "Del T base 1463" "" "Germline" "" "" "0" "" "" "g.68933839del" "" "pathogenic" "" "0000443064" "0" "90" "11" "68701307" "68701307" "del" "0" "00503" "IGHMBP2_000041" "g.68701307del" "" "{PMID:Pitt, 2003:14506069}" "" "Del T base 1463" "" "Germline" "" "" "0" "" "" "g.68933839del" "" "pathogenic" "" "0000443065" "0" "90" "11" "68696672" "68696672" "subst" "0.0000529286" "00503" "IGHMBP2_000022" "g.68696672T>C" "" "{PMID:Pitt, 2003:14506069}" "" "Leu 361 Pro, base 1082 ctg ccg" "" "Germline" "" "" "0" "" "" "g.68929204T>C" "" "pathogenic" "" "0000443066" "0" "90" "11" "68701332" "68701332" "subst" "0.000157212" "00503" "IGHMBP2_000012" "g.68701332C>A" "" "{PMID:Pitt, 2003:14506069}" "" "Cys496 Stop, base 1488 tgc to tga" "" "Germline" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic" "" "0000443067" "0" "90" "11" "68673577" "68673577" "subst" "0.0000324847" "00503" "IGHMBP2_000042" "g.68673577C>T" "" "{PMID:Pitt, 2003:14506069}" "" "Arg 43 Stop, base 127 cga to tga" "" "Germline" "" "" "0" "" "" "g.68906109C>T" "" "pathogenic" "" "0000443068" "0" "90" "11" "68701332" "68701332" "subst" "0.000157212" "00503" "IGHMBP2_000012" "g.68701332C>A" "" "{PMID:Pitt, 2003:14506069}" "" "Cys496 Stop, base 1488 tgc to tga" "" "Germline" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic" "" "0000443069" "0" "90" "11" "68701332" "68701332" "subst" "0.000157212" "00503" "IGHMBP2_000012" "g.68701332C>A" "" "{PMID:Pitt, 2003:14506069}" "" "Cys496 Stop, base 1488 tgc to tga" "" "Germline" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic" "" "0000443070" "0" "90" "11" "68685249" "68685249" "subst" "0.00000406075" "00503" "IGHMBP2_000043" "g.68685249C>T" "" "{PMID:Pitt, 2003:14506069}" "" "Arg 320 Stop, base 958 cga to tga" "" "Germline" "" "" "0" "" "" "g.68917781C>T" "" "pathogenic" "" "0000443071" "0" "90" "11" "68696672" "68696672" "subst" "0.0000529286" "00503" "IGHMBP2_000022" "g.68696672T>C" "" "{PMID:Pitt, 2003:14506069}" "" "Leu 361 Pro, base 1082 ctg ccg" "" "Germline" "" "" "0" "" "" "g.68929204T>C" "" "pathogenic" "" "0000443072" "0" "90" "11" "68685249" "68685249" "subst" "0.00000406075" "00503" "IGHMBP2_000043" "g.68685249C>T" "" "{PMID:Pitt, 2003:14506069}" "" "Arg 320 Stop, base 958 cga to tga" "" "Germline" "" "" "0" "" "" "g.68917781C>T" "" "pathogenic" "" "0000443073" "2" "90" "11" "68703755" "68703755" "subst" "0.00000813233" "00503" "IGHMBP2_000045" "g.68703755C>T" "" "{PMID:Maystadt, 2004:15108294}" "" "" "Not in 50 controls" "Germline" "" "" "0" "" "" "g.68936287C>T" "" "pathogenic (recessive)" "" "0000443074" "1" "90" "11" "68679007" "68679007" "subst" "0" "00503" "IGHMBP2_000044" "g.68679007C>T" "" "{PMID:Maystadt, 2004:15108294}" "" "" "Not in 50 controls" "Germline" "" "" "0" "" "" "g.68911539C>T" "" "pathogenic (recessive)" "" "0000443075" "0" "90" "11" "68703857" "68703857" "subst" "0.00000812137" "00503" "IGHMBP2_000036" "g.68703857C>T" "" "{PMID:Maystadt, 2004:15108294}" "" "" "Not in 50 controls" "Germline" "" "" "0" "" "" "g.68936389C>T" "" "pathogenic" "" "0000443076" "0" "90" "11" "68678947" "68678947" "subst" "0" "00503" "IGHMBP2_000046" "g.68678947A>G" "" "{PMID:Maystadt, 2004:15108294}" "" "" "Not in 50 controls" "Germline" "" "" "0" "" "" "g.68911479A>G" "" "pathogenic" "" "0000443077" "1" "90" "11" "68702827" "68702827" "subst" "0.0000243686" "00503" "IGHMBP2_000034" "g.68702827G>A" "" "{PMID:Maystadt, 2004:15108294}" "" "" "Not in 50 controls" "Germline" "" "" "0" "" "" "g.68935359G>A" "" "pathogenic (recessive)" "" "0000443078" "2" "90" "11" "68704316" "68704316" "subst" "0.0000123057" "00503" "IGHMBP2_000047" "g.68704316C>T" "" "{PMID:Maystadt, 2004:15108294}" "" "" "" "Germline" "" "" "0" "" "" "g.68936848C>T" "" "pathogenic (recessive)" "" "0000443079" "21" "90" "11" "68701332" "68701332" "subst" "0.000157212" "00503" "IGHMBP2_000012" "g.68701332C>A" "" "{PMID:Maystadt, 2004:15108294}" "" "" "mRNA instability?" "Germline" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic (recessive)" "" "0000443080" "10" "50" "11" "0" "0" "" "0" "00503" "IGHMBP2_000000" "g.?" "" "" "" "" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000443081" "2" "90" "11" "68702864" "68702864" "subst" "0.00000406101" "00503" "IGHMBP2_000023" "g.68702864T>C" "" "{PMID:Maystadt, 2004:15108294}" "" "" "Not in 50 controls" "Germline" "" "" "0" "" "" "g.68935396T>C" "" "pathogenic (recessive)" "" "0000443082" "1" "90" "11" "68682331" "68682331" "subst" "0" "00503" "IGHMBP2_000048" "g.68682331T>C" "" "{PMID:Maystadt, 2004:15108294}" "" "" "Not in 50 controls" "Germline" "" "" "0" "" "" "g.68914863T>C" "" "pathogenic (recessive)" "" "0000443083" "21" "70" "11" "68700858" "68700858" "subst" "0.0000164225" "00503" "IGHMBP2_000057" "g.68700858C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68933390C>T" "" "pathogenic (recessive)" "" "0000443084" "11" "90" "11" "68703704" "68703704" "subst" "0" "00503" "IGHMBP2_000061" "g.68703704G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68936236G>A" "" "pathogenic (recessive)" "" "0000443085" "0" "10" "11" "68673630" "68673630" "subst" "0.00954268" "00503" "IGHMBP2_000009" "g.68673630C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68906162C>T" "" "benign" "" "0000443086" "0" "10" "11" "68705674" "68705674" "subst" "0.263666" "00503" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "benign" "" "0000443087" "0" "10" "11" "68675930" "68675930" "subst" "0" "00503" "IGHMBP2_000053" "g.68675930G>T" "" "" "" "" "" "Germline" "" "rs10896378" "0" "" "" "g.68908462G>T" "" "benign" "" "0000443088" "0" "10" "11" "68701948" "68701948" "subst" "0.185973" "00503" "IGHMBP2_000060" "g.68701948C>T" "" "" "" "" "" "Germline" "" "rs11228413" "0" "" "" "g.68934480C>T" "" "benign" "" "0000443089" "0" "10" "11" "68671477" "68671477" "subst" "0.770231" "00503" "IGHMBP2_000051" "g.68671477T>C" "" "" "" "" "" "Germline" "" "rs1249463" "0" "" "" "g.68904009T>C" "" "benign" "" "0000443090" "0" "10" "11" "68704028" "68704028" "subst" "0.187889" "00503" "IGHMBP2_000062" "g.68704028C>T" "" "" "" "" "" "Germline" "" "rs2236654" "0" "" "" "g.68936560C>T" "" "benign" "" "0000443091" "0" "10" "11" "68701118" "68701118" "subst" "0" "00503" "IGHMBP2_000058" "g.68701118C>T" "" "" "" "" "" "Germline" "" "rs2282504" "0" "" "" "g.68933650C>T" "" "benign" "" "0000443092" "0" "10" "11" "68705936" "68705936" "subst" "0" "00503" "IGHMBP2_000063" "g.68705936T>G" "" "" "" "" "" "Germline" "" "rs488792" "0" "" "" "g.68938468T>G" "" "benign" "" "0000443093" "0" "10" "11" "68671419" "68671419" "subst" "0.188065" "00503" "IGHMBP2_000050" "g.68671419C>T" "" "" "" "" "" "Germline" "" "rs493062" "0" "" "" "g.68903951C>T" "" "benign" "" "0000443094" "0" "10" "11" "68682402" "68682402" "subst" "0.18275" "00503" "IGHMBP2_000055" "g.68682402A>G" "" "" "" "" "" "Germline" "" "rs493062" "0" "" "" "g.68914934A>G" "" "benign" "" "0000443095" "0" "10" "11" "68678962" "68678962" "subst" "0.774442" "00503" "IGHMBP2_000054" "g.68678962T>C" "" "" "" "" "" "Germline" "" "rs560096" "0" "" "" "g.68911494T>C" "" "benign" "" "0000443096" "0" "10" "11" "68706935" "68706935" "subst" "0" "00503" "IGHMBP2_000064" "g.68706935A>G" "" "" "" "" "" "Germline" "" "rs568862" "0" "" "" "g.68939467A>G" "" "benign" "" "0000443097" "0" "10" "11" "68701815" "68701815" "subst" "0" "00503" "IGHMBP2_000059" "g.68701815C>T" "" "" "" "" "" "Germline" "" "rs591841" "0" "" "" "g.68934347C>T" "" "benign" "" "0000443098" "0" "10" "11" "68675512" "68675512" "subst" "0" "00503" "IGHMBP2_000052" "g.68675512G>C" "" "" "" "" "" "Germline" "" "rs61887150" "0" "" "" "g.68908044G>C" "" "benign" "" "0000443099" "0" "10" "11" "68700701" "68700701" "subst" "0" "00503" "IGHMBP2_000056" "g.68700701G>C" "" "" "" "" "" "Germline" "" "rs645436" "0" "" "" "g.68933233G>C" "" "benign" "" "0000443100" "21" "90" "11" "68696697" "68696697" "subst" "0" "00503" "IGHMBP2_000065" "g.68696697C>G" "" "{PMID:Guenther, 2004:15290238}" "" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.68929229C>G" "" "pathogenic (recessive)" "" "0000443101" "11" "90" "11" "0" "0" "" "0" "00503" "IGHMBP2_000066" "g.?" "" "{PMID:Guenther, 2004:15290238}" "" "" "deletion of exons 3-7 (18.5 kb)" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000443102" "2" "90" "11" "68701332" "68701332" "subst" "0.000157212" "00503" "IGHMBP2_000012" "g.68701332C>A" "" "{PMID:Guenther, 2007:17431882}" "" "" "" "Germline" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic (recessive)" "" "0000443103" "1" "90" "11" "68671470" "68671470" "subst" "0" "00503" "IGHMBP2_000067" "g.68671470T>C" "" "{PMID:Guenther, 2007:17431882}" "" "" "not in 105 controls" "Germline" "" "" "0" "" "" "g.68904002T>C" "" "pathogenic (recessive)" "" "0000443104" "2" "90" "11" "68700946" "68700946" "subst" "0" "00503" "IGHMBP2_000068" "g.68700946T>C" "" "{PMID:Guenther, 2007:17431882}" "" "" "not in 105 controls" "Germline" "" "" "0" "" "" "g.68933478T>C" "" "pathogenic (recessive)" "" "0000443105" "1" "90" "11" "68679021" "68679021" "del" "0" "00503" "IGHMBP2_000039" "g.68679021del" "" "{PMID:Guenther, 2007:17431882}" "" "" "" "Germline" "" "" "0" "" "" "g.68911553del" "" "pathogenic (recessive)" "" "0000443106" "1" "90" "11" "68696746" "68696746" "subst" "0.0000284537" "00503" "IGHMBP2_000069" "g.68696746T>C" "" "{PMID:Guenther, 2007:17431882}" "" "" "not in 105 controls" "Germline" "" "" "0" "" "" "g.68929278T>C" "" "pathogenic (recessive)" "" "0000443107" "2" "90" "11" "68703761" "68703761" "subst" "0.0000203229" "00503" "IGHMBP2_000038" "g.68703761C>T" "" "{PMID:Guenther, 2007:17431882}" "" "" "" "Germline" "" "" "0" "" "" "g.68936293C>T" "" "pathogenic (recessive)" "" "0000443108" "21" "90" "11" "68696828" "68696828" "subst" "0" "00503" "IGHMBP2_000070" "g.68696828A>G" "" "{PMID:Guenther, 2007:17431882}" "" "" "" "Germline" "" "" "0" "" "" "g.68929360A>G" "" "pathogenic (recessive)" "" "0000443109" "11" "90" "11" "68700865" "68700865" "subst" "0.00000819706" "00503" "IGHMBP2_000071" "g.68700865A>C" "" "{PMID:Guenther, 2007:17431882}" "" "" "not in 105 controls" "Germline" "" "" "0" "" "" "g.68933397A>C" "" "pathogenic (recessive)" "" "0000443110" "1" "90" "11" "68685352" "68685352" "subst" "0" "00503" "IGHMBP2_000072" "g.68685352G>T" "" "{PMID:Guenther, 2007:17431882}" "" "" "" "Germline" "" "" "0" "" "" "g.68917884G>T" "" "pathogenic (recessive)" "" "0000443111" "2" "90" "11" "68696672" "68696672" "subst" "0.0000529286" "00503" "IGHMBP2_000022" "g.68696672T>C" "" "{PMID:Guenther, 2007:17431882}" "" "" "not in 105 controls" "Germline" "" "" "0" "" "" "g.68929204T>C" "" "pathogenic (recessive)" "" "0000443112" "1" "90" "11" "68696808" "68696808" "del" "0" "00503" "IGHMBP2_000073" "g.68696808del" "" "{PMID:Guenther, 2007:17431882}" "" "" "" "Germline" "" "" "0" "" "" "g.68929340del" "" "pathogenic (recessive)" "" "0000443113" "2" "90" "11" "68702842" "68702842" "subst" "0" "00503" "IGHMBP2_000074" "g.68702842C>T" "" "{PMID:Guenther, 2007:17431882}" "" "" "" "Germline" "" "" "0" "" "" "g.68935374C>T" "" "pathogenic (recessive)" "" "0000443114" "2" "90" "11" "68703825" "68703825" "del" "0" "00503" "IGHMBP2_000076" "g.68703825del" "" "{PMID:Guenther, 2007:17431882}" "" "" "" "Germline" "" "" "0" "" "" "g.68936357del" "" "pathogenic (recessive)" "" "0000443115" "1" "90" "11" "68678976" "68678976" "subst" "0" "00503" "IGHMBP2_000075" "g.68678976C>T" "" "{PMID:Guenther, 2007:17431882}" "" "" "" "Germline" "" "" "0" "" "" "g.68911508C>T" "" "pathogenic (recessive)" "" "0000443116" "1" "90" "11" "68673613" "68673613" "subst" "0" "00503" "IGHMBP2_000077" "g.68673613C>T" "" "{PMID:Guenther, 2007:17431882}" "" "" "" "Germline" "" "" "0" "" "" "g.68906145C>T" "" "pathogenic (recessive)" "" "0000443117" "2" "90" "11" "68703917" "68703917" "subst" "0" "00503" "IGHMBP2_000078" "g.68703917C>T" "" "{PMID:Guenther, 2007:17431882}" "" "" "" "Germline" "" "" "0" "" "" "g.68936449C>T" "" "pathogenic (recessive)" "" "0000443118" "2" "90" "11" "68696746" "68696746" "subst" "0.0000284537" "00503" "IGHMBP2_000069" "g.68696746T>C" "" "{PMID:Guenther, 2007:17431882}" "" "" "not in 105 controls" "Germline" "" "" "0" "" "" "g.68929278T>C" "" "pathogenic (recessive)" "" "0000443119" "1" "90" "11" "68682483" "68682483" "subst" "0.00000407047" "00503" "IGHMBP2_000079" "g.68682483C>T" "" "{PMID:Guenther, 2007:17431882}" "" "" "" "Germline" "" "" "0" "" "" "g.68915015C>T" "" "pathogenic (recessive)" "" "0000443120" "2" "90" "11" "68702877" "68702877" "subst" "0" "00503" "IGHMBP2_000080" "g.68702877A>C" "" "{PMID:Guenther, 2007:17431882}" "" "" "not in 105 controls" "Germline" "" "" "0" "" "" "g.68935409A>C" "" "pathogenic (recessive)" "" "0000443121" "1" "90" "11" "68675744" "68675744" "subst" "0" "00503" "IGHMBP2_000017" "g.68675744C>T" "" "{PMID:Guenther, 2007:17431882}" "" "" "" "Germline" "" "" "0" "" "" "g.68908276C>T" "" "pathogenic (recessive)" "" "0000443122" "10" "90" "11" "68675744" "68675744" "subst" "0" "00503" "IGHMBP2_000017" "g.68675744C>T" "" "{PMID:Giannini, 2006:16964485}" "" "" "" "Germline" "" "" "0" "" "" "g.68908276C>T" "" "pathogenic (recessive)" "" "0000443123" "20" "90" "11" "68675744" "68675744" "subst" "0" "00503" "IGHMBP2_000017" "g.68675744C>T" "" "{PMID:Giannini, 2006:16964485}" "" "" "" "Germline" "" "" "0" "" "" "g.68908276C>T" "" "pathogenic (recessive)" "" "0000443124" "2" "90" "11" "0" "0" "" "0" "00503" "IGHMBP2_000082" "g.?" "" "{PMID:Giannini, 2006:16964485}" "" "129delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000443125" "1" "90" "11" "68685351" "68685351" "subst" "0.00000406273" "00503" "IGHMBP2_000081" "g.68685351G>A" "" "{PMID:Giannini, 2006:16964485}" "" "1061G>A" "might affect donor splice site (bioinformatic prediction)" "Germline" "" "" "0" "" "" "g.68917883G>A" "" "pathogenic (recessive)" "" "0000443126" "11" "90" "11" "68702872" "68702872" "subst" "0.0000446755" "00503" "IGHMBP2_000007" "g.68702872G>A" "" "{PMID:Wong, 2006:16765827}" "" "" "" "Germline" "" "" "0" "" "" "g.68935404G>A" "" "pathogenic (recessive)" "" "0000443127" "21" "90" "11" "68704304" "68704304" "del" "0" "00503" "IGHMBP2_000083" "g.68704304del" "" "{PMID:Wong, 2006:16765827}" "" "" "" "Germline" "" "" "0" "" "" "g.68936836del" "" "pathogenic (recessive)" "" "0000443128" "0" "70" "11" "68701322" "68701322" "subst" "0.0000643517" "00503" "IGHMBP2_000084" "g.68701322C>T" "" "{PMID:Joseph, 2009:19157874}" "" "" "" "Germline" "" "" "0" "" "" "g.68933854C>T" "" "likely pathogenic" "" "0000443129" "0" "90" "11" "68701332" "68701332" "subst" "0.000157212" "00503" "IGHMBP2_000012" "g.68701332C>A" "" "{PMID:Joseph, 2009:19157874}" "" "" "" "Germline" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic" "" "0000443130" "0" "70" "11" "68701322" "68701322" "subst" "0.0000643517" "00503" "IGHMBP2_000084" "g.68701322C>T" "" "{PMID:Joseph, 2009:19157874}" "" "" "" "Germline" "" "" "0" "" "" "g.68933854C>T" "" "likely pathogenic" "" "0000443131" "0" "90" "11" "68701332" "68701332" "subst" "0.000157212" "00503" "IGHMBP2_000012" "g.68701332C>A" "" "{PMID:Joseph, 2009:19157874}" "" "" "" "Germline" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic" "" "0000443132" "1" "90" "11" "68701332" "68701332" "subst" "0.000157212" "00503" "IGHMBP2_000012" "g.68701332C>A" "" "{PMID:Fanos, 2010:20859832}" "" "" "" "Germline" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic (recessive)" "" "0000443133" "2" "90" "11" "68704310" "68704310" "subst" "0.0000327646" "00503" "IGHMBP2_000021" "g.68704310C>T" "" "{PMID:Fanos, 2010:20859832}" "" "" "" "Germline" "" "" "0" "" "" "g.68936842C>T" "" "pathogenic (recessive)" "" "0000443134" "1" "90" "11" "68696672" "68696672" "subst" "0.0000529286" "00503" "IGHMBP2_000022" "g.68696672T>C" "" "{PMID:Pierson, 2011:21353777}" "" "" "" "Germline" "" "" "0" "" "" "g.68929204T>C" "" "pathogenic (recessive)" "" "0000443135" "2" "90" "11" "68696734" "68696734" "subst" "0.00000813226" "00503" "IGHMBP2_000018" "g.68696734G>A" "" "{PMID:Pierson, 2011:21353777}" "" "" "" "Germline" "" "" "0" "" "" "g.68929266G>A" "" "pathogenic (recessive)" "" "0000443136" "10" "90" "11" "68685249" "68685249" "subst" "0.00000406075" "00503" "IGHMBP2_000043" "g.68685249C>T" "" "{PMID:AlSaman, 2010:20197267}" "" "" "" "Germline" "" "" "0" "" "" "g.68917781C>T" "" "pathogenic (recessive)" "" "0000443137" "20" "90" "11" "68685249" "68685249" "subst" "0.00000406075" "00503" "IGHMBP2_000043" "g.68685249C>T" "" "{PMID:AlSaman, 2010:20197267}" "" "" "" "Germline" "" "" "0" "" "" "g.68917781C>T" "" "pathogenic (recessive)" "" "0000443138" "11" "90" "11" "68696672" "68696672" "subst" "0.0000529286" "00503" "IGHMBP2_000022" "g.68696672T>C" "" "{PMID:Guenther, 2009:18802676}" "" "" "" "Germline" "" "" "0" "" "" "g.68929204T>C" "" "pathogenic (recessive)" "" "0000443139" "21" "90" "11" "68701322" "68701322" "subst" "0.0000643517" "00503" "IGHMBP2_000084" "g.68701322C>T" "" "{PMID:Guenther, 2009:18802676}" "" "" "not in 300 controls" "Germline" "" "" "0" "" "" "g.68933854C>T" "" "pathogenic (recessive)" "" "0000443140" "11" "90" "11" "68701322" "68701322" "subst" "0.0000643517" "00503" "IGHMBP2_000084" "g.68701322C>T" "" "{PMID:Guenther, 2009:18802676}" "" "" "not in 300 controls" "Germline" "" "" "0" "" "" "g.68933854C>T" "" "pathogenic (recessive)" "" "0000443141" "21" "90" "11" "68704310" "68704310" "subst" "0.0000327646" "00503" "IGHMBP2_000021" "g.68704310C>T" "" "{PMID:Guenther, 2009:18802676}" "" "" "" "Germline" "" "" "0" "" "" "g.68936842C>T" "" "pathogenic (recessive)" "" "0000455035" "2" "90" "11" "68676100" "68676100" "subst" "0.0000121879" "00006" "IGHMBP2_000169" "g.68676100G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG pvs1, pm2" "Germline" "yes" "" "0" "" "" "g.68908632G>A" "" "likely pathogenic" "ACMG" "0000455036" "1" "90" "11" "68701322" "68701322" "subst" "0.0000643517" "00006" "IGHMBP2_000084" "g.68701322C>T" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68933854C>T" "" "pathogenic" "" "0000455037" "1" "90" "11" "68701332" "68701332" "subst" "0.000157212" "00006" "IGHMBP2_000012" "g.68701332C>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.68933864C>A" "" "pathogenic" "" "0000455038" "2" "70" "11" "68702854" "68702854" "subst" "0" "00006" "IGHMBP2_000170" "g.68702854G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG Pm1, pm2, pp2, pp3" "Germline" "" "" "0" "" "" "g.68935386G>A" "" "likely pathogenic" "ACMG" "0000455039" "1" "90" "11" "68675795" "68675795" "subst" "0.00000406114" "00006" "IGHMBP2_000028" "g.68675795C>T" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.68908327C>T" "" "pathogenic" "" "0000455040" "2" "70" "11" "68682370" "68682370" "subst" "0.0000203047" "00006" "IGHMBP2_000171" "g.68682370G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG pm1, pm2, pm5" "Germline" "" "" "0" "" "" "g.68914902G>A" "" "likely pathogenic" "ACMG" "0000545526" "0" "10" "11" "68671290" "68671291" "ins" "0" "02330" "IGHMBP2_000173" "g.68671290_68671291insTTCCCGCGCCTC" "" "" "" "MRPL21(NM_181515.2):c.-276_-275insGCGGGAAGAGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68903822_68903823insTTCCCGCGCCTC" "" "benign" "" "0000545527" "0" "30" "11" "68673553" "68673553" "subst" "0.000158363" "01804" "IGHMBP2_000174" "g.68673553A>G" "" "" "" "IGHMBP2(NM_002180.2):c.103A>G (p.(Ile35Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68906085A>G" "" "likely benign" "" "0000545528" "0" "50" "11" "68673617" "68673617" "subst" "0.0000284245" "02330" "IGHMBP2_000175" "g.68673617G>A" "" "" "" "IGHMBP2(NM_002180.3):c.167G>A (p.R56H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68906149G>A" "" "VUS" "" "0000545530" "0" "50" "11" "68673631" "68673631" "subst" "0.00000812156" "01804" "IGHMBP2_000103" "g.68673631G>C" "" "" "" "IGHMBP2(NM_002180.2):c.181G>C (p.(Gly61Arg)), IGHMBP2(NM_002180.3):c.181G>C (p.G61R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68906163G>C" "" "VUS" "" "0000545531" "0" "10" "11" "68675722" "68675722" "subst" "0.00281403" "02330" "IGHMBP2_000176" "g.68675722C>T" "" "" "" "IGHMBP2(NM_002180.3):c.366C>T (p.H122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68908254C>T" "" "benign" "" "0000545532" "0" "50" "11" "68675806" "68675806" "subst" "0" "02330" "IGHMBP2_000177" "g.68675806G>C" "" "" "" "IGHMBP2(NM_002180.3):c.449+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68908338G>C" "" "VUS" "" "0000545534" "0" "70" "11" "68676100" "68676100" "subst" "0.0000121879" "02330" "IGHMBP2_000169" "g.68676100G>A" "" "" "" "IGHMBP2(NM_002180.3):c.547+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68908632G>A" "" "likely pathogenic" "" "0000545535" "0" "90" "11" "68678947" "68678947" "subst" "0" "02327" "IGHMBP2_000046" "g.68678947A>G" "" "" "" "IGHMBP2(NM_002180.3):c.587A>G (p.Q196R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68911479A>G" "" "pathogenic" "" "0000545536" "0" "10" "11" "68682305" "68682305" "subst" "0.00278433" "02330" "IGHMBP2_000179" "g.68682305C>G" "" "" "" "IGHMBP2(NM_002180.3):c.726C>G (p.A242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68914837C>G" "" "benign" "" "0000545537" "0" "30" "11" "68685359" "68685359" "subst" "0.000605479" "02326" "IGHMBP2_000180" "g.68685359G>T" "" "" "" "IGHMBP2(NM_002180.2):c.1060+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68917891G>T" "" "likely benign" "" "0000545541" "0" "70" "11" "68696686" "68696686" "subst" "0" "01804" "IGHMBP2_000181" "g.68696686G>T" "" "" "" "IGHMBP2(NM_002180.2):c.1096G>T (p.(Glu366Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68929218G>T" "" "likely pathogenic" "" "0000545542" "0" "50" "11" "68696710" "68696710" "subst" "0.0000812757" "02330" "IGHMBP2_000182" "g.68696710A>G" "" "" "" "IGHMBP2(NM_002180.3):c.1120A>G (p.I374V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68929242A>G" "" "VUS" "" "0000545543" "0" "30" "11" "68696733" "68696733" "subst" "0.000101643" "02330" "IGHMBP2_000183" "g.68696733C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1143C>T (p.L381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68929265C>T" "" "likely benign" "" "0000545547" "0" "30" "11" "68700821" "68700821" "subst" "0.000617325" "02330" "IGHMBP2_000104" "g.68700821C>T" "" "" "" "IGHMBP2(NM_002180.2):c.1290C>T (p.Y430=), IGHMBP2(NM_002180.3):c.1290C>T (p.Y430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68933353C>T" "" "likely benign" "" "0000545548" "0" "70" "11" "68700859" "68700859" "subst" "0" "02327" "IGHMBP2_000185" "g.68700859G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68933391G>A" "" "likely pathogenic" "" "0000545549" "0" "50" "11" "68701333" "68701333" "subst" "0.0000218849" "02330" "IGHMBP2_000186" "g.68701333G>T" "" "" "" "IGHMBP2(NM_002180.3):c.1489G>T (p.G497W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68933865G>T" "" "VUS" "" "0000545550" "0" "90" "11" "68701363" "68701363" "subst" "0" "01943" "IGHMBP2_000187" "g.68701363C>T" "" "" "" "IGHMBP2(NM_002180.2):c.1519C>T (p.Q507*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68933895C>T" "" "pathogenic" "" "0000545551" "0" "30" "11" "68701912" "68701912" "subst" "0.00626199" "02330" "IGHMBP2_000188" "g.68701912C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1538-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68934444C>T" "" "likely benign" "" "0000545552" "0" "50" "11" "68702030" "68702030" "subst" "0.0000215024" "02330" "IGHMBP2_000189" "g.68702030C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1632+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68934562C>T" "" "VUS" "" "0000545553" "0" "90" "11" "68702782" "68702783" "ins" "0" "02330" "IGHMBP2_000190" "g.68702782_68702783insG" "" "" "" "IGHMBP2(NM_002180.3):c.1648_1649insG (p.Q550Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68935314_68935315insG" "" "pathogenic" "" "0000545554" "0" "90" "11" "68702864" "68702864" "subst" "0.00000406101" "02330" "IGHMBP2_000023" "g.68702864T>C" "" "" "" "IGHMBP2(NM_002180.3):c.1730T>C (p.L577P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68935396T>C" "" "pathogenic" "" "0000545555" "0" "30" "11" "68703775" "68703775" "subst" "0.0017671" "02330" "IGHMBP2_000191" "g.68703775G>A" "" "" "" "IGHMBP2(NM_002180.3):c.1827G>A (p.A609=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68936307G>A" "" "likely benign" "" "0000545557" "0" "30" "11" "68704218" "68704218" "subst" "0.0000365866" "02327" "IGHMBP2_000193" "g.68704218G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68936750G>A" "" "likely benign" "" "0000545558" "0" "30" "11" "68704270" "68704270" "subst" "0.0026227" "02330" "IGHMBP2_000194" "g.68704270A>G" "" "" "" "IGHMBP2(NM_002180.3):c.2322A>G (p.E774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68936802A>G" "" "likely benign" "" "0000545559" "0" "10" "11" "68704303" "68704303" "subst" "0.000942757" "02330" "IGHMBP2_000195" "g.68704303G>A" "" "" "" "IGHMBP2(NM_002180.3):c.2355G>A (p.R785=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68936835G>A" "" "benign" "" "0000545560" "0" "10" "11" "68704387" "68704387" "subst" "0.00245096" "02330" "IGHMBP2_000196" "g.68704387G>A" "" "" "" "IGHMBP2(NM_002180.3):c.2439G>A (p.A813=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68936919G>A" "" "benign" "" "0000545562" "0" "10" "11" "68705820" "68705820" "subst" "0.0182874" "02330" "IGHMBP2_000198" "g.68705820G>A" "" "" "" "IGHMBP2(NM_002180.2):c.2782G>A (p.(Glu928Lys)), IGHMBP2(NM_002180.3):c.2782G>A (p.E928K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68938352G>A" "" "benign" "" "0000545563" "0" "30" "11" "68707205" "68707205" "subst" "0.000606202" "02330" "IGHMBP2_000199" "g.68707205C>T" "" "" "" "IGHMBP2(NM_002180.3):c.*6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68939737C>T" "" "likely benign" "" "0000545564" "0" "10" "11" "68707864" "68707864" "subst" "0" "02330" "IGHMBP2_000200" "g.68707864C>T" "" "" "" "IGHMBP2(NM_002180.3):c.*665C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68940396C>T" "" "benign" "" "0000545565" "0" "10" "11" "68707880" "68707880" "subst" "0" "02330" "IGHMBP2_000201" "g.68707880T>C" "" "" "" "IGHMBP2(NM_002180.3):c.*681T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68940412T>C" "" "benign" "" "0000613666" "0" "30" "11" "68685242" "68685242" "subst" "0.0000406085" "02330" "IGHMBP2_000203" "g.68685242T>C" "" "" "" "IGHMBP2(NM_002180.3):c.951T>C (p.S317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68917774T>C" "" "likely benign" "" "0000613667" "0" "50" "11" "68700824" "68700824" "subst" "0.0000452489" "02330" "IGHMBP2_000204" "g.68700824C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1293C>T (p.G431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68933356C>T" "" "VUS" "" "0000613668" "0" "30" "11" "68703808" "68703808" "subst" "0" "01804" "IGHMBP2_000205" "g.68703808T>G" "" "" "" "IGHMBP2(NM_002180.2):c.1860T>G (p.(His620Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68936340T>G" "" "likely benign" "" "0000613669" "0" "50" "11" "68704239" "68704239" "subst" "0" "01804" "IGHMBP2_000206" "g.68704239A>G" "" "" "" "IGHMBP2(NM_002180.2):c.2291A>G (p.(Glu764Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68936771A>G" "" "VUS" "" "0000613670" "0" "30" "11" "68705820" "68705820" "subst" "0.0182874" "01804" "IGHMBP2_000198" "g.68705820G>A" "" "" "" "IGHMBP2(NM_002180.2):c.2782G>A (p.(Glu928Lys)), IGHMBP2(NM_002180.3):c.2782G>A (p.E928K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68938352G>A" "" "likely benign" "" "0000622712" "0" "50" "11" "68675796" "68675796" "subst" "0.0000609206" "02330" "IGHMBP2_000202" "g.68675796G>A" "" "" "" "IGHMBP2(NM_002180.3):c.440G>A (p.R147Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68908328G>A" "" "VUS" "" "0000622713" "0" "30" "11" "68707196" "68707196" "subst" "0.00304487" "02330" "IGHMBP2_000207" "g.68707196G>A" "" "" "" "IGHMBP2(NM_002180.2):c.2979G>A (p.T993=), IGHMBP2(NM_002180.3):c.2979G>A (p.T993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68939728G>A" "" "likely benign" "" "0000648377" "1" "50" "11" "68682346" "68682346" "subst" "0.000877207" "03575" "IGHMBP2_000208" "g.68682346C>G" "5/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs148095551}" "Germline" "" "rs148095551" "0" "" "" "g.68914878C>G" "" "VUS" "" "0000648378" "1" "10" "11" "68700967" "68700967" "subst" "0.0222537" "03575" "IGHMBP2_000137" "g.68700967A>G" "168/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "168 heterozygous; {DB:CLININrs112575423}" "Germline" "" "rs112575423" "0" "" "" "g.68933499A>G" "" "benign" "" "0000648379" "1" "30" "11" "68705820" "68705820" "subst" "0.0182874" "03575" "IGHMBP2_000198" "g.68705820G>A" "35/2755 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "35 heterozygous, no homozygous; {DB:CLININrs2275996}" "Germline" "" "rs2275996" "0" "" "" "g.68938352G>A" "" "likely benign" "" "0000653111" "1" "50" "11" "68696783" "68696783" "subst" "0.0024743" "03575" "IGHMBP2_000129" "g.68696783C>T" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 8 heterozygous, no homozygous; {DB:CLININrs35193202}" "Germline" "" "rs35193202" "0" "" "" "g.68929315C>T" "" "VUS" "" "0000656898" "0" "50" "11" "68707054" "68707054" "subst" "0.000631241" "02330" "IGHMBP2_000209" "g.68707054G>A" "" "" "" "IGHMBP2(NM_002180.3):c.2837G>A (p.R946Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68939586G>A" "" "VUS" "" "0000664013" "0" "90" "11" "68696672" "68696672" "subst" "0.0000529286" "00006" "IGHMBP2_000022" "g.68696672T>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs201060167" "0" "" "" "g.68929204T>C" "" "pathogenic (recessive)" "" "0000664014" "0" "90" "11" "68696746" "68696746" "subst" "0.0000284537" "00006" "IGHMBP2_000069" "g.68696746T>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.68929278T>C" "" "pathogenic (recessive)" "" "0000664015" "0" "90" "11" "68701322" "68701322" "subst" "0.0000643517" "00006" "IGHMBP2_000084" "g.68701322C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.68933854C>T" "" "pathogenic (recessive)" "" "0000664016" "0" "90" "11" "68702872" "68702872" "subst" "0.0000446755" "00006" "IGHMBP2_000007" "g.68702872G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs137852667" "0" "" "" "g.68935404G>A" "" "pathogenic (recessive)" "" "0000664017" "0" "90" "11" "68703857" "68703857" "subst" "0.00000812137" "00006" "IGHMBP2_000036" "g.68703857C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs201563456" "0" "" "" "g.68936389C>T" "" "pathogenic (recessive)" "" "0000664018" "0" "90" "11" "68704316" "68704316" "subst" "0.0000123057" "00006" "IGHMBP2_000047" "g.68704316C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.68936848C>T" "" "pathogenic (recessive)" "" "0000664074" "0" "70" "11" "68671422" "68671422" "subst" "0" "00006" "IGHMBP2_000211" "g.68671422T>C" "" "{PMID:Antoniadi 2015:26392352}" "" "p.(Met1?)" "AR, biparental inheritance" "Germline" "" "" "0" "" "" "g.68903954T>C" "" "likely pathogenic (recessive)" "" "0000664075" "0" "70" "11" "68679021" "68679021" "del" "0" "00006" "IGHMBP2_000039" "g.68679021del" "" "{PMID:Antoniadi 2015:26392352}" "" "c.661delA" "" "Germline" "" "" "0" "" "" "g.68911553del" "" "likely pathogenic (recessive)" "" "0000664076" "0" "70" "11" "68679069" "68679069" "subst" "0" "00006" "IGHMBP2_000212" "g.68679069A>G" "" "{PMID:Antoniadi 2015:26392352}" "" "" "AR, biparental inheritance" "Germline" "" "" "0" "" "" "g.68911601A>G" "" "likely pathogenic (recessive)" "" "0000664077" "0" "70" "11" "68682370" "68682370" "subst" "0.00000812189" "00006" "IGHMBP2_000213" "g.68682370G>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.68914902G>T" "" "likely pathogenic (recessive)" "" "0000664078" "0" "70" "11" "68682427" "68682427" "subst" "0" "00006" "IGHMBP2_000214" "g.68682427T>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.68914959T>C" "" "likely pathogenic (recessive)" "" "0000664079" "0" "70" "11" "68696783" "68696783" "subst" "0.0024743" "00006" "IGHMBP2_000129" "g.68696783C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs35193202" "0" "" "" "g.68929315C>T" "" "likely pathogenic (recessive)" "" "0000664080" "0" "70" "11" "68701295" "68701295" "subst" "0.00000415155" "00006" "IGHMBP2_000215" "g.68701295C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "AR, biparental inheritance" "Germline" "" "" "0" "" "" "g.68933827C>T" "" "likely pathogenic (recessive)" "" "0000664081" "0" "70" "11" "68701998" "68701998" "subst" "0" "00006" "IGHMBP2_000216" "g.68701998T>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.68934530T>C" "" "likely pathogenic (recessive)" "" "0000664082" "0" "70" "11" "68704304" "68704304" "del" "0" "00006" "IGHMBP2_000106" "g.68704304del" "" "{PMID:Antoniadi 2015:26392352}" "" "c.2356delG" "" "Germline" "" "" "0" "" "" "g.68936836del" "" "likely pathogenic (recessive)" "" "0000664083" "0" "70" "11" "68705785" "68705785" "subst" "0" "00006" "IGHMBP2_000217" "g.68705785G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "AR, biparental inheritance" "Germline" "" "" "0" "" "" "g.68938317G>A" "" "likely pathogenic (recessive)" "" "0000664122" "0" "70" "11" "68671422" "68671422" "subst" "0" "00006" "IGHMBP2_000211" "g.68671422T>C" "" "{PMID:Antoniadi 2015:26392352}" "" "p.(Met1?)" "" "Germline" "" "" "0" "" "" "g.68903954T>C" "" "likely pathogenic (recessive)" "" "0000664134" "0" "90" "11" "68696672" "68696672" "subst" "0.0000529286" "00006" "IGHMBP2_000022" "g.68696672T>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs201060167" "0" "" "" "g.68929204T>C" "" "pathogenic (recessive)" "" "0000664135" "0" "90" "11" "68696746" "68696746" "subst" "0.0000284537" "00006" "IGHMBP2_000069" "g.68696746T>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.68929278T>C" "" "pathogenic (recessive)" "" "0000664136" "0" "90" "11" "68701322" "68701322" "subst" "0.0000643517" "00006" "IGHMBP2_000084" "g.68701322C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.68933854C>T" "" "pathogenic (recessive)" "" "0000664140" "0" "70" "11" "68682370" "68682370" "subst" "0.00000812189" "00006" "IGHMBP2_000213" "g.68682370G>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.68914902G>T" "" "likely pathogenic (recessive)" "" "0000664149" "0" "70" "11" "68682370" "68682370" "subst" "0.00000812189" "00006" "IGHMBP2_000213" "g.68682370G>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.68914902G>T" "" "likely pathogenic (recessive)" "" "0000664159" "0" "70" "11" "68682370" "68682370" "subst" "0.00000812189" "00006" "IGHMBP2_000213" "g.68682370G>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.68914902G>T" "" "likely pathogenic (recessive)" "" "0000669135" "3" "10" "11" "68700967" "68700967" "subst" "0.0222537" "03575" "IGHMBP2_000137" "g.68700967A>G" "8/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs112575423}" "Germline" "" "rs112575423" "0" "" "" "g.68933499A>G" "" "benign" "" "0000670754" "1" "90" "11" "68707177" "68707177" "subst" "0.0000631228" "00006" "IGHMBP2_000218" "g.68707177G>A" "" "{PMID:Yu 2017:28403181}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.68939709G>A" "" "pathogenic (recessive)" "" "0000673869" "0" "70" "11" "68704304" "68704304" "del" "0" "03695" "IGHMBP2_000083" "g.68704304del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000673870" "0" "70" "11" "68675700" "68675700" "subst" "0.00093801" "03695" "IGHMBP2_000219" "g.68675700C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "" "0000679315" "0" "50" "11" "68675660" "68675660" "subst" "0.000467005" "02330" "IGHMBP2_000220" "g.68675660G>T" "" "" "" "IGHMBP2(NM_002180.3):c.304G>T (p.A102S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679316" "0" "50" "11" "68700792" "68700792" "subst" "0" "02330" "IGHMBP2_000221" "g.68700792A>C" "" "" "" "IGHMBP2(NM_002180.3):c.1261A>C (p.S421R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679317" "0" "30" "11" "68707193" "68707193" "subst" "0.000133473" "02326" "IGHMBP2_000210" "g.68707193G>A" "" "" "" "IGHMBP2(NM_002180.2):c.2976G>A (p.G992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683681" "1" "90" "11" "68682324" "68682324" "subst" "0" "00006" "IGHMBP2_000222" "g.68682324G>A" "" "{PMID:Mahler 2019:31056085}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000683689" "2" "90" "11" "0" "0" "" "0" "00006" "IGHMBP2_000000" "g.?" "" "{PMID:Mahler 2019:31056085}" "" "61C>T (Arg21Cys)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000684783" "0" "30" "11" "68675700" "68675700" "subst" "0.00093801" "00004" "IGHMBP2_000219" "g.68675700C>T" "frequency 0.020" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.68908232C>T" "" "likely benign" "" "0000691166" "0" "30" "11" "68678888" "68678888" "subst" "0.00118532" "02326" "IGHMBP2_000223" "g.68678888C>T" "" "" "" "IGHMBP2(NM_002180.2):c.548-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691169" "0" "70" "11" "68702872" "68702872" "subst" "0.0000446755" "02327" "IGHMBP2_000007" "g.68702872G>A" "" "" "" "IGHMBP2(NM_002180.3):c.1738G>A (p.V580I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691170" "0" "90" "11" "68707128" "68707129" "del" "0" "02326" "IGHMBP2_000109" "g.68707128_68707129del" "" "" "" "IGHMBP2(NM_002180.2):c.2911_2912delAG (p.R971Efs*4), IGHMBP2(NM_002180.3):c.2911_2912delAG (p.R971Efs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723679" "0" "50" "11" "68673631" "68673631" "subst" "0.00000812156" "02329" "IGHMBP2_000103" "g.68673631G>C" "" "" "" "IGHMBP2(NM_002180.2):c.181G>C (p.(Gly61Arg)), IGHMBP2(NM_002180.3):c.181G>C (p.G61R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723682" "0" "90" "11" "68701332" "68701332" "subst" "0.000157212" "02329" "IGHMBP2_000012" "g.68701332C>A" "" "" "" "IGHMBP2(NM_002180.2):c.1488C>A (p.C496*), IGHMBP2(NM_002180.3):c.1488C>A (p.C496*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723683" "0" "10" "11" "68701924" "68701924" "subst" "0.00135035" "02330" "IGHMBP2_000224" "g.68701924C>G" "" "" "" "IGHMBP2(NM_002180.3):c.1538-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723684" "0" "10" "11" "68703687" "68703687" "subst" "0.00195563" "02330" "IGHMBP2_000225" "g.68703687C>A" "" "" "" "IGHMBP2(NM_002180.3):c.1757-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723685" "0" "50" "11" "68703755" "68703755" "subst" "0.00000406616" "01804" "IGHMBP2_000226" "g.68703755C>G" "" "" "" "IGHMBP2(NM_002180.2):c.1807C>G (p.(Arg603Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723686" "0" "10" "11" "68704480" "68704480" "subst" "0.00198327" "02330" "IGHMBP2_000227" "g.68704480G>A" "" "" "" "IGHMBP2(NM_002180.3):c.2532G>A (p.A844=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723687" "0" "30" "11" "68707196" "68707196" "subst" "0.00304487" "02326" "IGHMBP2_000207" "g.68707196G>A" "" "" "" "IGHMBP2(NM_002180.2):c.2979G>A (p.T993=), IGHMBP2(NM_002180.3):c.2979G>A (p.T993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730363" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00006" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000730370" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000730371" "3" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000730372" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000730373" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000730374" "0" "50" "11" "68705674" "68705674" "subst" "0.263666" "00002" "IGHMBP2_000003" "g.68705674C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68938206C>A" "" "VUS" "" "0000786891" "3" "90" "11" "68685249" "68685249" "subst" "0.00000406075" "00006" "IGHMBP2_000043" "g.68685249C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.68917781C>T" "" "pathogenic" "" "0000786892" "3" "70" "11" "68704378" "68704378" "del" "0" "00006" "IGHMBP2_000230" "g.68704378del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.68936910del" "" "likely pathogenic" "" "0000787099" "3" "70" "11" "68696651" "68707199" "del" "0" "00006" "IGHMBP2_000228" "g.(?_68696651)_(68707199_?)del" "" "{PMID:Ganapathy 2019:31069529}" "" "chr11:68696651-?_68707199+?del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000787308" "3" "50" "11" "68696788" "68696788" "subst" "0.00000814213" "00006" "IGHMBP2_000229" "g.68696788G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs779654686" "0" "" "" "g.68929320G>A" "{CV-RCV:000642636.1}" "VUS" "" "0000805370" "0" "90" "11" "68673588" "68673588" "subst" "0.0000162425" "02325" "IGHMBP2_000026" "g.68673588T>A" "" "" "" "IGHMBP2(NM_002180.3):c.138T>A (p.C46*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805371" "0" "30" "11" "68675603" "68675603" "subst" "0.0000122101" "02330" "IGHMBP2_000231" "g.68675603G>C" "" "" "" "IGHMBP2(NM_002180.3):c.257-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805372" "0" "50" "11" "68696783" "68696783" "subst" "0.0024743" "01943" "IGHMBP2_000129" "g.68696783C>T" "" "" "" "IGHMBP2(NM_002180.2):c.1193C>T (p.A398V), IGHMBP2(NM_002180.3):c.1193C>T (p.A398V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805373" "0" "90" "11" "68701332" "68701332" "subst" "0.000157212" "01943" "IGHMBP2_000012" "g.68701332C>A" "" "" "" "IGHMBP2(NM_002180.2):c.1488C>A (p.C496*), IGHMBP2(NM_002180.3):c.1488C>A (p.C496*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000853148" "0" "50" "11" "68673617" "68673617" "subst" "0.0000284245" "02329" "IGHMBP2_000175" "g.68673617G>A" "" "" "" "IGHMBP2(NM_002180.3):c.167G>A (p.R56H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853149" "0" "30" "11" "68682434" "68682434" "subst" "0.000178706" "02330" "IGHMBP2_000233" "g.68682434G>A" "" "" "" "IGHMBP2(NM_002180.3):c.855G>A (p.A285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853150" "0" "30" "11" "68696715" "68696715" "subst" "0.0000731535" "02330" "IGHMBP2_000235" "g.68696715C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1125C>T (p.D375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853151" "0" "70" "11" "68701322" "68701322" "subst" "0.0000643517" "02327" "IGHMBP2_000084" "g.68701322C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1478C>T (p.T493I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862679" "0" "30" "11" "68671525" "68671525" "subst" "0" "02330" "IGHMBP2_000232" "g.68671525G>T" "" "" "" "IGHMBP2(NM_002180.3):c.86+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862680" "0" "30" "11" "68696631" "68696631" "subst" "0" "02326" "IGHMBP2_000234" "g.68696631C>T" "" "" "" "IGHMBP2(NM_002180.2):c.1061-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862681" "0" "30" "11" "68700821" "68700821" "subst" "0.000617325" "02326" "IGHMBP2_000104" "g.68700821C>T" "" "" "" "IGHMBP2(NM_002180.2):c.1290C>T (p.Y430=), IGHMBP2(NM_002180.3):c.1290C>T (p.Y430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862682" "0" "30" "11" "68701945" "68701945" "subst" "0.00022211" "02330" "IGHMBP2_000236" "g.68701945C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1551C>T (p.L517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862683" "0" "50" "11" "68703764" "68703764" "subst" "0.00000406382" "02330" "IGHMBP2_000237" "g.68703764C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1816C>T (p.R606C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000873537" "0" "70" "11" "68675700" "68675700" "subst" "0.00093801" "00000" "IGHMBP2_000219" "g.68675700C>T" "169" "{PMID:Sun 2018:30076350}" "" "IGHMBP2 (NM_002180.2): c.344C>T(p.T115M)/CDS10-14 duplication" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68908232C>T" "" "likely pathogenic" "" "0000873538" "0" "70" "11" "0" "0" "" "0" "00000" "DRD4_000002" "g.?" "169" "{PMID:Sun 2018:30076350}" "" "IGHMBP2 (NM_002180.2): c.344C>T(p.T115M)/CDS10-14 duplication" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000873904" "0" "10" "11" "68705674" "68705674" "subst" "0.263666" "00000" "IGHMBP2_000003" "g.68705674C>A" "" "{PMID:Bell 2011:21228398}" "" "IGHMBP2 11:68462250 (hg18) het CM055288 44.2%" "non-causative, heterozygous" "Germline" "?" "" "0" "" "" "g.68938206C>A" "" "benign" "" "0000890151" "0" "30" "11" "68685361" "68685361" "subst" "0.00010973" "02330" "IGHMBP2_000238" "g.68685361C>T" "" "" "" "IGHMBP2(NM_002180.3):c.1060+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890152" "0" "70" "11" "68696694" "68696694" "subst" "0" "02330" "IGHMBP2_000239" "g.68696694C>A" "" "" "" "IGHMBP2(NM_002180.3):c.1104C>A (p.Y368*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890154" "0" "50" "11" "68702753" "68702753" "subst" "0.0000162849" "02330" "IGHMBP2_000240" "g.68702753G>A" "" "" "" "IGHMBP2(NM_002180.3):c.1633-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890155" "0" "10" "11" "68703973" "68703973" "subst" "0.00123151" "02330" "IGHMBP2_000241" "g.68703973C>T" "" "" "" "IGHMBP2(NM_002180.3):c.2025C>T (p.T675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890156" "0" "50" "11" "68707053" "68707053" "subst" "0.00091643" "02327" "IGHMBP2_000242" "g.68707053C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890157" "0" "50" "11" "68707086" "68707086" "subst" "0.000138602" "02330" "IGHMBP2_000243" "g.68707086A>G" "" "" "" "IGHMBP2(NM_002180.3):c.2869A>G (p.K957E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890158" "0" "30" "11" "68707098" "68707098" "subst" "0.0000694235" "02330" "IGHMBP2_000244" "g.68707098C>T" "" "" "" "IGHMBP2(NM_002180.3):c.2881C>T (p.L961=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913698" "0" "30" "11" "68696783" "68696783" "subst" "0.0024743" "02326" "IGHMBP2_000129" "g.68696783C>T" "" "" "" "IGHMBP2(NM_002180.2):c.1193C>T (p.A398V), IGHMBP2(NM_002180.3):c.1193C>T (p.A398V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 IGHMBP2 ## Count = 439 "{{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}}" "0000000184" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000185" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000186" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000187" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000189" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000190" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000191" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000192" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000193" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000194" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000195" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000196" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000197" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000198" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000199" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000200" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000208" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000209" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000210" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000211" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000212" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000213" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000214" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000215" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000216" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000217" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000218" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000219" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000220" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000221" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000222" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000223" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000224" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000225" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000226" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000000227" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000063156" "00000110" "10" "-68" "0" "-68" "0" "c.-68T>C" "r.(=)" "p.(=)" "1" "0000063157" "00000110" "90" "1011" "0" "1011" "0" "c.1011del" "r.(?)" "p.(Met338Cysfs*24)" "7" "0000063158" "00000110" "10" "3893" "0" "3893" "0" "c.*911G>A" "r.(=)" "p.(=)" "15_" "0000063159" "00000110" "90" "138" "0" "138" "0" "c.138T>A" "r.(?)" "p.(Cys46*)" "2" "0000063160" "00000110" "10" "57" "0" "57" "0" "c.57T>C" "r.(=)" "p.(=)" "1" "0000063161" "00000110" "50" "240" "0" "240" "0" "c.240T>A" "r.(?)" "p.(Ser80Arg)" "2" "0000063162" "00000110" "10" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(Arg694Trp)" "13" "0000063163" "00000110" "10" "151" "0" "151" "0" "c.151C>G" "r.(?)" "p.(Gln51Glu)" "2" "0000063164" "00000110" "10" "1554" "0" "1554" "0" "c.1554C>T" "r.(=)" "p.(=)" "11" "0000063165" "00000110" "10" "1236" "-33" "1236" "-33" "c.1236-33C>A" "r.(=)" "p.(=)" "8i" "0000063166" "00000110" "10" "2784" "54" "2784" "54" "c.2784+54G>A" "r.(=)" "p.(=)" "14i" "0000063167" "00000110" "10" "823" "0" "823" "0" "c.823A>G" "r.(?)" "p.(Ile275Val)" "6" "0000063168" "00000110" "10" "-2" "0" "-2" "0" "c.-2C>T" "r.(=)" "p.(=)" "4" "0000063169" "00000110" "10" "602" "0" "602" "0" "c.602T>C" "r.(?)" "p.(Leu201Ser)" "5" "0000063170" "00000110" "10" "2011" "0" "2011" "0" "c.2011A>G" "r.(?)" "p.(Thr671Ala)" "13" "0000063171" "00000110" "10" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000063172" "00000110" "90" "1082" "0" "1082" "0" "c.1082T>C" "r.(?)" "p.(Leu361Pro)" "8" "0000063173" "00000110" "10" "2316" "0" "2316" "0" "c.2316C>T" "r.(=)" "p.(=)" "13" "0000130043" "00000110" "90" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Arg43*)" "2" "0000130072" "00000110" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320*)" "7" "0000130206" "00000110" "90" "1813" "0" "1813" "0" "c.1813C>T" "r.(?)" "p.(Arg605*)" "13" "0000246989" "00000110" "10" "823" "0" "823" "0" "c.823A>G" "r.(?)" "p.(Ile275Val)" "" "0000246991" "00000110" "10" "2011" "0" "2011" "0" "c.2011A>G" "r.(?)" "p.(Thr671Ala)" "" "0000247036" "00000110" "10" "1418" "18" "1418" "18" "c.1418+18A>G" "r.(=)" "p.(=)" "" "0000247048" "00000110" "50" "638" "0" "638" "0" "c.638A>G" "r.(?)" "p.(His213Arg)" "" "0000247049" "00000110" "90" "1334" "0" "1334" "0" "c.1334A>C" "r.(?)" "p.(His445Pro)" "" "0000247052" "00000110" "90" "1748" "0" "1748" "0" "c.1748A>T" "r.(?)" "p.(Asn583Ile)" "" "0000247053" "00000110" "90" "587" "0" "587" "0" "c.587A>G" "r.(?)" "p.(Gln196Arg)" "" "0000247054" "00000110" "90" "1743" "0" "1743" "0" "c.1743A>C" "r.(?)" "p.(Arg581Ser)" "" "0000247056" "00000110" "90" "661" "0" "661" "0" "c.661A>G" "r.(?)" "p.(Thr221Ala)" "" "0000247060" "00000110" "90" "1235" "3" "1235" "3" "c.1235+3A>G" "r.spl?" "p.?" "" "0000248399" "00000110" "10" "823" "0" "823" "0" "c.823A>G" "r.(?)" "p.(Ile275Val)" "" "0000248419" "00000110" "10" "2011" "0" "2011" "0" "c.2011A>G" "r.(?)" "p.(Thr671Ala)" "" "0000255657" "00000110" "90" "1103" "0" "1103" "0" "c.1103del" "r.(?)" "p.(Tyr368SerfsTer23)" "" "0000277896" "00000110" "10" "-2" "0" "-2" "0" "c.-2C>T" "r.(?)" "p.(=)" "" "0000277897" "00000110" "10" "3237" "0" "3237" "0" "c.*255T>C" "r.(=)" "p.(=)" "" "0000277898" "00000110" "10" "3409" "0" "3409" "0" "c.*427C>T" "r.(=)" "p.(=)" "" "0000277899" "00000110" "90" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Glu334Lys)" "" "0000277900" "00000110" "90" "1060" "1" "1060" "1" "c.1060+1G>T" "r.spl?" "p.?" "" "0000277901" "00000110" "90" "1060" "0" "1060" "0" "c.1060G>A" "r.(?)" "p.(Gly354Ser)" "" "0000277902" "00000110" "90" "1082" "0" "1082" "0" "c.1082T>C" "r.(?)" "p.(Leu361Pro)" "" "0000277903" "00000110" "90" "1091" "0" "1091" "0" "c.1091T>C" "r.(?)" "p.(Leu364Pro)" "" "0000277904" "00000110" "10" "1104" "0" "1104" "0" "c.1104C>T" "r.(?)" "p.(Tyr368=)" "" "0000277905" "00000110" "90" "1107" "0" "1107" "0" "c.1107C>G" "r.(?)" "p.(Phe369Leu)" "" "0000277906" "00000110" "90" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Glu382Lys)" "" "0000277907" "00000110" "90" "1156" "0" "1156" "0" "c.1156T>C" "r.(?)" "p.(Trp386Arg)" "" "0000277908" "00000110" "50" "1193" "0" "1193" "0" "c.1193C>T" "r.(?)" "p.(Ala398Val)" "" "0000277909" "00000110" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Gln41Ter)" "" "0000277910" "00000110" "30" "1236" "-10" "1236" "-10" "c.1236-10C>T" "r.(=)" "p.(=)" "" "0000277911" "00000110" "90" "1277" "0" "1277" "0" "c.1277T>C" "r.(?)" "p.(Leu426Pro)" "" "0000277912" "00000110" "90" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Arg43Ter)" "" "0000277913" "00000110" "90" "138" "0" "138" "0" "c.138T>A" "r.(?)" "p.(Cys46Ter)" "" "0000277914" "00000110" "90" "1415" "0" "1415" "0" "c.1415T>C" "r.(?)" "p.(Leu472Pro)" "" "0000277915" "00000110" "50" "1478" "0" "1478" "0" "c.1478C>T" "r.(?)" "p.(Thr493Ile)" "" "0000277916" "00000110" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Cys496Ter)" "" "0000277917" "00000110" "10" "151" "0" "151" "0" "c.151C>G" "r.(?)" "p.(Gln51Glu)" "" "0000277918" "00000110" "90" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Glu514Lys)" "" "0000277919" "00000110" "10" "1554" "0" "1554" "0" "c.1554C>T" "r.(?)" "p.(Val518=)" "" "0000277920" "00000110" "90" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Gln55Ter)" "" "0000277922" "00000110" "90" "1693" "0" "1693" "0" "c.1693G>A" "r.(?)" "p.(Asp565Asn)" "" "0000277923" "00000110" "90" "1708" "0" "1708" "0" "c.1708C>T" "r.(?)" "p.(Arg570Ter)" "" "0000277924" "00000110" "90" "1738" "0" "1738" "0" "c.1738G>A" "r.(?)" "p.(Val580Ile)" "" "0000277925" "00000110" "50" "1742" "0" "1742" "0" "c.1742G>C" "r.(?)" "p.(Arg581Thr)" "" "0000277926" "00000110" "90" "1756" "0" "1756" "0" "c.1756G>T" "r.(?)" "p.(Gly586Cys)" "" "0000277927" "00000110" "90" "1807" "0" "1807" "0" "c.1807C>T" "r.(?)" "p.(Arg603Cys)" "" "0000277928" "00000110" "90" "1808" "0" "1808" "0" "c.1808G>A" "r.(?)" "p.(Arg603His)" "" "0000277929" "00000110" "10" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Tyr60=)" "" "0000277930" "00000110" "90" "1813" "0" "1813" "0" "c.1813C>T" "r.(?)" "p.(Arg605Ter)" "" "0000277931" "00000110" "30" "1845" "0" "1845" "0" "c.1845T>A" "r.(?)" "p.(Arg615=)" "" "0000277932" "00000110" "90" "1909" "0" "1909" "0" "c.1909C>T" "r.(?)" "p.(Arg637Cys)" "" "0000277933" "00000110" "90" "1969" "0" "1969" "0" "c.1969C>T" "r.(?)" "p.(Gln657Ter)" "" "0000277934" "00000110" "10" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(Arg694Trp)" "" "0000277935" "00000110" "10" "2259" "0" "2259" "0" "c.2259C>T" "r.(?)" "p.(His753=)" "" "0000277936" "00000110" "10" "2316" "0" "2316" "0" "c.2316C>T" "r.(?)" "p.(Ser772=)" "" "0000277937" "00000110" "50" "2317" "0" "2317" "0" "c.2317G>A" "r.(?)" "p.(Gly773Arg)" "" "0000277938" "00000110" "50" "2360" "0" "2360" "0" "c.2360C>T" "r.(?)" "p.(Pro787Leu)" "" "0000277939" "00000110" "90" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788Ter)" "" "0000277940" "00000110" "90" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(Arg790Ter)" "" "0000277941" "00000110" "10" "2532" "0" "2532" "0" "c.2532G>T" "r.(?)" "p.(Ala844=)" "" "0000277942" "00000110" "10" "256" "9" "256" "9" "c.256+9G>A" "r.(=)" "p.(=)" "" "0000277943" "00000110" "70" "2598" "0" "2601" "0" "c.2598_2601del" "r.(?)" "p.(Lys868ProfsTer109)" "" "0000277944" "00000110" "70" "2601" "0" "2604" "0" "c.2601_2604del" "r.(?)" "p.(Lys868ProfsTer109)" "" "0000277945" "00000110" "90" "2611" "1" "2611" "1" "c.2611+1G>T" "r.spl?" "p.?" "" "0000277946" "00000110" "10" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "" "0000277947" "00000110" "50" "2646" "0" "2646" "0" "c.2646C>A" "r.(?)" "p.(Asp882Glu)" "" "0000277948" "00000110" "10" "2667" "0" "2667" "0" "c.2667C>T" "r.(?)" "p.(Ala889=)" "" "0000277949" "00000110" "10" "2784" "54" "2784" "54" "c.2784+54G>A" "r.(=)" "p.(=)" "" "0000277950" "00000110" "90" "2911" "0" "2912" "0" "c.2911_2912del" "r.(?)" "p.(Arg971GlufsTer4)" "" "0000277951" "00000110" "50" "2922" "0" "2922" "0" "c.2922T>G" "r.(?)" "p.(Asp974Glu)" "" "0000277952" "00000110" "90" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Ter)" "" "0000277953" "00000110" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Arg147Ter)" "" "0000277954" "00000110" "90" "50" "0" "50" "0" "c.50T>C" "r.(?)" "p.(Leu17Pro)" "" "0000277955" "00000110" "90" "575" "0" "575" "0" "c.575T>C" "r.(?)" "p.(Leu192Pro)" "" "0000277956" "00000110" "10" "57" "0" "57" "0" "c.57T>C" "r.(?)" "p.(Leu19=)" "" "0000277957" "00000110" "10" "602" "0" "602" "0" "c.602T>C" "r.(?)" "p.(Leu201Ser)" "" "0000277958" "00000110" "90" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Gln206Ter)" "" "0000277959" "00000110" "90" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0000277960" "00000110" "90" "707" "0" "707" "0" "c.707T>G" "r.(?)" "p.(Leu236Ter)" "" "0000277961" "00000110" "90" "721" "0" "721" "0" "c.721T>C" "r.(?)" "p.(Cys241Arg)" "" "0000277962" "00000110" "10" "741" "0" "741" "0" "c.741C>T" "r.(?)" "p.(Ala247=)" "" "0000277963" "00000110" "90" "752" "0" "752" "0" "c.752T>C" "r.(?)" "p.(Leu251Pro)" "" "0000277964" "00000110" "90" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Gln302Ter)" "" "0000277965" "00000110" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Ter)" "" "0000281494" "00000110" "10" "-2" "0" "-2" "0" "c.-2C>T" "r.(?)" "p.(=)" "" "0000281495" "00000110" "10" "1554" "0" "1554" "0" "c.1554C>T" "r.(?)" "p.(Val518=)" "" "0000281496" "00000110" "10" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(Arg694Trp)" "" "0000281497" "00000110" "10" "2316" "0" "2316" "0" "c.2316C>T" "r.(?)" "p.(Ser772=)" "" "0000281498" "00000110" "10" "57" "0" "57" "0" "c.57T>C" "r.(?)" "p.(Leu19=)" "" "0000281499" "00000110" "10" "602" "0" "602" "0" "c.602T>C" "r.(?)" "p.(Leu201Ser)" "" "0000285175" "00000110" "30" "151" "0" "151" "0" "c.151C>G" "r.(?)" "p.(Gln51Glu)" "" "0000285176" "00000110" "10" "256" "9" "256" "9" "c.256+9G>A" "r.(=)" "p.(=)" "" "0000285177" "00000110" "70" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Gln302Ter)" "" "0000289521" "00000110" "30" "1295" "0" "1295" "0" "c.1295C>T" "r.(?)" "p.(Ala432Val)" "" "0000289522" "00000110" "50" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Arg450Cys)" "" "0000289523" "00000110" "30" "1669" "0" "1669" "0" "c.1669C>G" "r.(?)" "p.(Pro557Ala)" "" "0000289524" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>T" "r.(?)" "p.(Thr879Met)" "" "0000340842" "00000110" "10" "57" "0" "57" "0" "c.57T>C" "r.(?)" "p.(Leu19=)" "" "0000340975" "00000110" "10" "2316" "0" "2316" "0" "c.2316C>T" "r.(?)" "p.(Ser772=)" "" "0000341042" "00000110" "30" "1290" "0" "1290" "0" "c.1290C>T" "r.(?)" "p.(Tyr430=)" "" "0000343361" "00000110" "90" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788Ter)" "" "0000344406" "00000110" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Cys496Ter)" "" "0000346194" "00000110" "50" "181" "0" "181" "0" "c.181G>C" "r.(?)" "p.(Gly61Arg)" "" "0000346977" "00000110" "10" "602" "0" "602" "0" "c.602T>C" "r.(?)" "p.(Leu201Ser)" "" "0000349597" "00000110" "10" "2011" "0" "2011" "0" "c.2011A>G" "r.(?)" "p.(Thr671Ala)" "" "0000349647" "00000110" "10" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "" "0000438826" "00000110" "50" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.Gly766Arg" "" "0000439030" "00000110" "90" "138" "0" "138" "0" "c.138T>A" "r.(?)" "p.Cys46*" "" "0000440089" "00000110" "50" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.Asp93Asn" "" "0000442991" "00000110" "10" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000442992" "00000110" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Gln41*)" "2" "0000442993" "00000110" "90" "675" "0" "675" "0" "c.675del" "r.(?)" "p.(Glu226Argfs*7)" "5" "0000442994" "00000110" "10" "2784" "54" "2784" "54" "c.2784+54G>A" "r.(?)" "p.(=)" "14i" "0000442995" "00000110" "10" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000442996" "00000110" "90" "707" "0" "707" "0" "c.707T>G" "r.(?)" "p.(Leu236*)" "5" "0000442997" "00000110" "90" "707" "0" "707" "0" "c.707T>G" "r.(?)" "p.(Leu236*)" "5" "0000442998" "00000110" "10" "-136" "0" "-135" "0" "c.-136_-135insCGCCATCTTCCCGC" "r.(?)" "p.(=)" "1" "0000442999" "00000110" "90" "2611" "1" "2611" "1" "c.2611+1G>T" "r.spl" "p.?" "13i" "0000443000" "00000110" "90" "2611" "1" "2611" "1" "c.2611+1G>T" "r.spl" "p.?" "13i" "0000443001" "00000110" "10" "-136" "0" "-135" "0" "c.-136_-135insCGCCATCTTCCCGC" "r.(?)" "p.(=)" "1" "0000443002" "00000110" "90" "1738" "0" "1738" "0" "c.1738G>A" "r.(?)" "p.(Val580Ile)" "12" "0000443003" "00000110" "90" "1738" "0" "1738" "0" "c.1738G>A" "r.(?)" "p.(Val580Ile)" "12" "0000443004" "00000110" "10" "2784" "54" "2784" "54" "c.2784+54G>A" "r.(?)" "p.(=)" "14i" "0000443005" "00000110" "10" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(=)" "2" "0000443006" "00000110" "10" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000443007" "00000110" "90" "638" "0" "638" "0" "c.638A>G" "r.(?)" "p.(His213Arg)" "5" "0000443008" "00000110" "90" "638" "0" "638" "0" "c.638A>G" "r.(?)" "p.(His213Arg)" "5" "0000443009" "00000110" "90" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Glu514Lys)" "11" "0000443010" "00000110" "90" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Glu514Lys)" "11" "0000443011" "00000110" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Cys496*)" "10" "0000443012" "00000110" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Cys496*)" "10" "0000443013" "00000110" "90" "114" "0" "114" "0" "c.114del" "r.(?)" "p.(Glu39Serfs*10)" "2" "0000443014" "00000110" "90" "114" "0" "114" "0" "c.114del" "r.(?)" "p.(Glu39Serfs*10)" "2" "0000443015" "00000110" "90" "983" "0" "987" "0" "c.983_987del" "r.(?)" "p.(Lys328Thrfs*46)" "7" "0000443016" "00000110" "90" "983" "0" "987" "0" "c.983_987del" "r.(?)" "p.(Lys328Thrfs*46)" "7" "0000443017" "00000110" "90" "1277" "0" "1277" "0" "c.1277T>C" "r.(?)" "p.(Leu426Pro)" "9" "0000443018" "00000110" "90" "575" "0" "575" "0" "c.575T>C" "r.(?)" "p.(Leu192Pro)" "5" "0000443019" "00000110" "90" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Glu382Lys)" "8" "0000443020" "00000110" "90" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130*)" "3" "0000443021" "00000110" "90" "1714" "0" "1716" "0" "c.1714_1716del" "r.(?)" "p.(Lys572del)" "12" "0000443022" "00000110" "90" "2922" "0" "2922" "0" "c.2922T>G" "r.(?)" "p.(Asp974Glu)" "15" "0000443023" "00000110" "90" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788*)" "13" "0000443024" "00000110" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "1_15" "0000443025" "00000110" "90" "1082" "0" "1082" "0" "c.1082T>C" "r.(?)" "p.(Leu361Pro)" "8" "0000443026" "00000110" "90" "1730" "0" "1730" "0" "c.1730T>C" "r.(?)" "p.(Leu577Pro)" "12" "0000443027" "00000110" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Cys496*)" "10" "0000443028" "00000110" "90" "1808" "0" "1808" "0" "c.1808G>A" "r.(?)" "p.(Arg603His)" "13" "0000443029" "00000110" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Cys496*)" "10" "0000443030" "00000110" "90" "1748" "0" "1748" "0" "c.1748A>T" "r.(?)" "p.(Asn583Ile)" "12" "0000443031" "00000110" "90" "138" "0" "138" "0" "c.138T>A" "r.(?)" "p.(Cys46*)" "2" "0000443032" "00000110" "90" "1648" "0" "1648" "0" "c.1648dup" "r.(?)" "p.(Gln550Profs*9)" "12" "0000443033" "00000110" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Cys496*)" "10" "0000443034" "00000110" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Arg147*)" "3" "0000443035" "00000110" "90" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Glu514Lys)" "11" "0000443036" "00000110" "90" "707" "0" "707" "0" "c.707T>G" "r.(?)" "p.(Leu236*)" "5" "0000443037" "00000110" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Cys496*)" "10" "0000443038" "00000110" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Cys496*)" "10" "0000443039" "00000110" "90" "707" "0" "707" "0" "c.707T>G" "r.(?)" "p.(Leu236*)" "5" "0000443040" "00000110" "90" "721" "0" "721" "0" "c.721T>C" "r.(?)" "p.(Cys241Arg)" "6" "0000443041" "00000110" "90" "121" "0" "121" "0" "c.121del" "r.(?)" "p.(Gln41Argfs*8)" "2" "0000443042" "00000110" "90" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130*)" "3" "0000443043" "00000110" "90" "983" "0" "987" "0" "c.983_987del" "r.(?)" "p.(Lys328Thrfs*46)" "7" "0000443045" "00000110" "90" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Glu334Lys)" "7" "0000443046" "00000110" "90" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Glu334Lys)" "7" "0000443047" "00000110" "90" "1091" "0" "1091" "0" "c.1091T>C" "r.(?)" "p.(Leu364Pro)" "8" "0000443048" "00000110" "90" "2436" "0" "2436" "0" "c.2436del" "r.(?)" "p.(Ala813Argfs*18)" "13" "0000443049" "00000110" "90" "1693" "0" "1693" "0" "c.1693G>A" "r.(?)" "p.(Asp565Asn)" "12" "0000443050" "00000110" "90" "1730" "0" "1730" "0" "c.1730T>C" "r.(?)" "p.(Leu577Pro)" "12" "0000443051" "00000110" "90" "1756" "0" "1756" "0" "c.1756G>T" "r.(?)" "p.(Gly586Cys)" "12" "0000443052" "00000110" "90" "1909" "0" "1909" "0" "c.1909C>T" "r.(?)" "p.(Arg637Cys)" "13" "0000443053" "00000110" "90" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788*)" "13" "0000443054" "00000110" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Arg147*)" "3" "0000443055" "00000110" "90" "1813" "0" "1813" "0" "c.1813C>T" "r.(?)" "p.(Arg605*)" "13" "0000443056" "00000110" "90" "661" "0" "661" "0" "c.661A>G" "r.(?)" "p.(Thr221Ala)" "5" "0000443057" "00000110" "90" "1082" "0" "1082" "0" "c.1082T>C" "r.(?)" "p.(Leu361Pro)" "8" "0000443058" "00000110" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Cys496*)" "10" "0000443059" "00000110" "90" "661" "0" "661" "0" "c.661del" "r.(?)" "p.(Thr221Profs*12)" "5" "0000443060" "00000110" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "1_15" "0000443061" "00000110" "90" "983" "0" "984" "0" "c.983_984del" "r.(?)" "p.(Lys328Argfs*47)" "7" "0000443062" "00000110" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "1_15" "0000443063" "00000110" "90" "1463" "0" "1463" "0" "c.1463del" "r.(?)" "p.(Leu488Argfs*88)" "10" "0000443064" "00000110" "90" "1463" "0" "1463" "0" "c.1463del" "r.(?)" "p.(Leu488Argfs*88)" "10" "0000443065" "00000110" "90" "1082" "0" "1082" "0" "c.1082T>C" "r.(?)" "p.(Leu361Pro)" "8" "0000443066" "00000110" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Cys496*)" "10" "0000443067" "00000110" "90" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Arg43*)" "2" "0000443068" "00000110" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" 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"p.(Arg605*)" "13" "0000443108" "00000110" "90" "1235" "3" "1235" "3" "c.1235+3A>G" "r.[=, 1061_1235del]" "p.Ala355Leufs*10" "8i" "0000443109" "00000110" "90" "1334" "0" "1334" "0" "c.1334A>C" "r.1334a>c" "p.His445Pro" "9" "0000443110" "00000110" "90" "1060" "1" "1060" "1" "c.1060+1G>T" "r.spl" "p.?" "7i" "0000443111" "00000110" "90" "1082" "0" "1082" "0" "c.1082T>C" "r.(?)" "p.(Leu361Pro)" "8" "0000443112" "00000110" "90" "1218" "0" "1218" "0" "c.1218del" "r.(?)" "p.(Thr407Profs*16)" "8" "0000443113" "00000110" "90" "1708" "0" "1708" "0" "c.1708C>T" "r.(?)" "p.(Arg570*)" "12" "0000443114" "00000110" "90" "1877" "0" "1877" "0" "c.1877del" "r.(?)" "p.(Leu626Argfs*107)" "13" "0000443115" "00000110" "90" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Gln206*)" "5" "0000443116" "00000110" "90" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Gln55*)" "2" "0000443117" "00000110" "90" "1969" "0" "1969" "0" "c.1969C>T" "r.(?)" "p.(Gln657*)" "13" "0000443118" "00000110" "90" "1156" "0" "1156" "0" "c.1156T>C" "r.(?)" "p.(Trp386Arg)" "8" "0000443119" "00000110" "90" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Gln302*)" "6" "0000443120" "00000110" "90" "1743" "0" "1743" "0" "c.1743A>C" "r.(?)" "p.(Arg581Ser)" "12" "0000443121" "00000110" "90" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130*)" "3" "0000443122" "00000110" "90" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130*)" "3" "0000443123" "00000110" "90" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130*)" "3" "0000443124" "00000110" "90" "-8388608" "0" "8388607" "0" "c.?delC" "r.(?)" "p.(?)" "2" "0000443125" "00000110" "90" "1060" "0" "1060" "0" "c.1060G>A" "r.(?)" "p.(Gly354Ser)" "7" "0000443126" "00000110" "90" "1738" "0" "1738" "0" "c.1738G>A" "r.(?)" "p.(Val580Ile)" "12" "0000443127" "00000110" "90" "2356" "0" "2356" "0" "c.2356del" "r.(?)" "p.(Ala786Profs*45)" "13" "0000443128" "00000110" "70" "1478" "0" "1478" "0" "c.1478C>T" "r.(?)" "p.(Thr493Ile)" "10" "0000443129" "00000110" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Cys496*)" "10" "0000443130" "00000110" "70" "1478" "0" "1478" "0" "c.1478C>T" "r.(?)" "p.(Thr493Ile)" "10" "0000443131" "00000110" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Cys496*)" "10" "0000443132" "00000110" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Cys496*)" "10" "0000443133" "00000110" "90" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788*)" "13" "0000443134" "00000110" "90" "1082" "0" "1082" "0" "c.1082T>C" "r.(?)" "p.(Leu361Pro)" "8" "0000443135" "00000110" "90" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Glu382Lys)" "8" "0000443136" "00000110" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320*)" "7" "0000443137" "00000110" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320*)" "7" "0000443138" "00000110" "90" "1082" "0" "1082" "0" "c.1082T>C" "r.(?)" "p.(Leu361Pro)" "8" "0000443139" "00000110" "90" "1478" "0" "1478" "0" "c.1478C>T" "r.(?)" "p.(Thr493Ile)" "10" "0000443140" "00000110" "90" "1478" "0" "1478" "0" "c.1478C>T" "r.(?)" "p.(Thr493Ile)" "10" "0000443141" "00000110" "90" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788*)" "13" "0000455035" "00000110" "90" "547" "1" "547" "1" "c.547+1G>A" "r.spl" "p.?" "" "0000455036" "00000110" "90" "1478" "0" "1478" "0" "c.1478C>T" "r.(?)" "p.(Thr493Ile)" "" "0000455037" "00000110" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Cys496*)" "" "0000455038" "00000110" "70" "1720" "0" "1720" "0" "c.1720G>A" "r.(?)" "p.(Ala574Thr)" "" "0000455039" "00000110" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Arg147*)" "" "0000455040" "00000110" "70" "791" "0" "791" "0" "c.791G>A" "r.(?)" "p.(Arg264His)" "" "0000545526" "00000110" "10" "-131" "0" "-130" "0" "c.-131_-130insTTCCCGCGCCTC" "r.(?)" "p.(=)" "" "0000545527" "00000110" "30" "103" "0" "103" "0" "c.103A>G" "r.(?)" "p.(Ile35Val)" "" "0000545528" "00000110" "50" "167" "0" "167" "0" "c.167G>A" "r.(?)" "p.(Arg56His)" "" "0000545530" "00000110" "50" "181" "0" "181" "0" "c.181G>C" "r.(?)" "p.(Gly61Arg)" "" "0000545531" "00000110" "10" "366" "0" "366" "0" "c.366C>T" "r.(?)" "p.(His122=)" "" "0000545532" "00000110" "50" "449" "1" "449" "1" "c.449+1G>C" "r.spl?" "p.?" "" "0000545534" "00000110" "70" "547" "1" "547" "1" "c.547+1G>A" "r.spl?" "p.?" "" "0000545535" "00000110" "90" "587" "0" "587" "0" "c.587A>G" "r.(?)" "p.(Gln196Arg)" "" "0000545536" "00000110" "10" "726" "0" "726" "0" "c.726C>G" "r.(?)" "p.(Ala242=)" "" "0000545537" "00000110" "30" "1060" "8" "1060" "8" "c.1060+8G>T" "r.(=)" "p.(=)" "" "0000545541" "00000110" "70" "1096" "0" "1096" "0" "c.1096G>T" "r.(?)" "p.(Glu366Ter)" "" "0000545542" "00000110" "50" "1120" "0" "1120" "0" "c.1120A>G" "r.(?)" "p.(Ile374Val)" "" "0000545543" "00000110" "30" "1143" "0" "1143" "0" "c.1143C>T" "r.(?)" "p.(Leu381=)" "" "0000545547" "00000110" "30" "1290" "0" "1290" "0" "c.1290C>T" "r.(?)" "p.(Tyr430=)" "" "0000545548" "00000110" "70" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443His)" "" "0000545549" "00000110" "50" "1489" "0" "1489" "0" "c.1489G>T" "r.(?)" "p.(Gly497Trp)" "" "0000545550" "00000110" "90" "1519" "0" "1519" "0" "c.1519C>T" "r.(?)" "p.(Gln507Ter)" "" "0000545551" "00000110" "30" "1538" "-20" "1538" "-20" "c.1538-20C>T" "r.(=)" "p.(=)" "" "0000545552" "00000110" "50" "1632" "4" "1632" "4" "c.1632+4C>T" "r.spl?" "p.?" "" "0000545553" "00000110" "90" "1648" "0" "1649" "0" "c.1648_1649insG" "r.(?)" "p.(Gln550ArgfsTer9)" "" "0000545554" "00000110" "90" "1730" "0" "1730" "0" "c.1730T>C" "r.(?)" "p.(Leu577Pro)" "" "0000545555" "00000110" "30" "1827" "0" "1827" "0" "c.1827G>A" "r.(?)" "p.(Ala609=)" "" "0000545557" "00000110" "30" "2270" "0" "2270" "0" "c.2270G>A" "r.(?)" "p.(Arg757Gln)" "" "0000545558" "00000110" "30" "2322" "0" "2322" "0" "c.2322A>G" "r.(?)" "p.(Glu774=)" "" "0000545559" "00000110" "10" "2355" "0" "2355" "0" "c.2355G>A" "r.(?)" "p.(Arg785=)" "" "0000545560" "00000110" "10" "2439" "0" "2439" "0" "c.2439G>A" "r.(?)" "p.(Ala813=)" "" "0000545562" "00000110" "10" "2782" "0" "2782" "0" "c.2782G>A" "r.(?)" "p.(Glu928Lys)" "" "0000545563" "00000110" "30" "2988" "0" "2988" "0" "c.*6C>T" "r.(=)" "p.(=)" "" "0000545564" "00000110" "10" "3647" "0" "3647" "0" "c.*665C>T" "r.(=)" "p.(=)" "" "0000545565" "00000110" "10" "3663" "0" "3663" "0" "c.*681T>C" "r.(=)" "p.(=)" "" "0000613666" "00000110" "30" "951" "0" "951" "0" "c.951T>C" "r.(?)" "p.(Ser317=)" "" "0000613667" "00000110" "50" "1293" "0" "1293" "0" "c.1293C>T" "r.(?)" "p.(Gly431=)" "" "0000613668" "00000110" "30" "1860" "0" "1860" "0" "c.1860T>G" "r.(?)" "p.(His620Gln)" "" "0000613669" "00000110" "50" "2291" "0" "2291" "0" "c.2291A>G" "r.(?)" "p.(Glu764Gly)" "" "0000613670" "00000110" "30" "2782" "0" "2782" "0" "c.2782G>A" "r.(?)" "p.(Glu928Lys)" "" "0000622712" "00000110" "50" "440" "0" "440" "0" "c.440G>A" "r.(?)" "p.(Arg147Gln)" "" "0000622713" "00000110" "30" "2979" "0" "2979" "0" "c.2979G>A" "r.(?)" "p.(Thr993=)" "" "0000648377" "00000110" "50" "767" "0" "767" "0" "c.767C>G" "r.(?)" "p.(Ala256Gly)" "" "0000648378" "00000110" "10" "1418" "18" "1418" "18" "c.1418+18A>G" "r.(=)" "p.(=)" "" "0000648379" "00000110" "30" "2782" "0" "2782" "0" "c.2782G>A" "r.(?)" "p.(Glu928Lys)" "" "0000653111" "00000110" "50" "1193" "0" "1193" "0" "c.1193C>T" "r.(?)" "p.(Ala398Val)" "" "0000656898" "00000110" "50" "2837" "0" "2837" "0" "c.2837G>A" "r.(?)" "p.(Arg946Gln)" "" "0000664013" "00000110" "90" "1082" "0" "1082" "0" "c.1082T>C" "r.(?)" "p.(Leu361Pro)" "" "0000664014" "00000110" "90" "1156" "0" "1156" "0" "c.1156T>C" "r.(?)" "p.(Trp386Arg)" "" "0000664015" "00000110" "90" "1478" "0" "1478" "0" "c.1478C>T" "r.(?)" "p.(Thr493Ile)" "" "0000664016" "00000110" "90" "1738" "0" "1738" "0" "c.1738G>A" "r.(?)" "p.(Val580Ile)" "" "0000664017" "00000110" "90" "1909" "0" "1909" "0" "c.1909C>T" "r.(?)" "p.(Arg637Cys)" "" "0000664018" "00000110" "90" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(Arg790*)" "" "0000664074" "00000110" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.0?" "" "0000664075" "00000110" "70" "661" "0" "661" "0" "c.661del" "r.(?)" "p.(Thr221Profs*12)" "" "0000664076" "00000110" "70" "709" "0" "709" "0" "c.709A>G" "r.(?)" "p.(Lys237Glu)" "" "0000664077" "00000110" "70" "791" "0" "791" "0" "c.791G>T" "r.(?)" "p.(Arg264Leu)" "" "0000664078" "00000110" "70" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Val283Ala)" "" "0000664079" "00000110" "70" "1193" "0" "1193" "0" "c.1193C>T" "r.(?)" "p.(Ala398Val)" "" "0000664080" "00000110" "70" "1451" "0" "1451" "0" "c.1451C>T" "r.(?)" "p.(Thr484Met)" "" "0000664081" "00000110" "70" "1604" "0" "1604" "0" "c.1604T>C" "r.(?)" "p.(Ile535Thr)" "" "0000664082" "00000110" "70" "2356" "0" "2356" "0" "c.2356del" "r.(?)" "p.(Ala786Profs*45)" "" "0000664083" "00000110" "70" "2747" "0" "2747" "0" "c.2747G>A" "r.(?)" "p.(Cys916Tyr)" "" "0000664122" "00000110" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.0?" "" "0000664134" "00000110" "90" "1082" "0" "1082" "0" "c.1082T>C" "r.(?)" "p.(Leu361Pro)" "" "0000664135" "00000110" "90" "1156" "0" "1156" "0" "c.1156T>C" "r.(?)" "p.(Trp386Arg)" "" "0000664136" "00000110" "90" "1478" "0" "1478" "0" "c.1478C>T" "r.(?)" "p.(Thr493Ile)" "" "0000664140" "00000110" "70" "791" "0" "791" "0" "c.791G>T" "r.(?)" "p.(Arg264Leu)" "" "0000664149" "00000110" "70" "791" "0" "791" "0" "c.791G>T" "r.(?)" "p.(Arg264Leu)" "" "0000664159" "00000110" "70" "791" "0" "791" "0" "c.791G>T" "r.(?)" "p.(Arg264Leu)" "" "0000669135" "00000110" "10" "1418" "18" "1418" "18" "c.1418+18A>G" "r.(=)" "p.(=)" "" "0000670754" "00000110" "90" "2960" "0" "2960" "0" "c.2960G>A" "r.(?)" "p.(Arg987Gln)" "" "0000673869" "00000110" "70" "2356" "0" "2356" "0" "c.2356del" "r.(?)" "p.(Ala786Profs*45)" "" "0000673870" "00000110" "70" "344" "0" "344" "0" "c.344C>T" "r.(?)" "p.(Thr115Met)" "" "0000679315" "00000110" "50" "304" "0" "304" "0" "c.304G>T" "r.(?)" "p.(Ala102Ser)" "" "0000679316" "00000110" "50" "1261" "0" "1261" "0" "c.1261A>C" "r.(?)" "p.(Ser421Arg)" "" "0000679317" "00000110" "30" "2976" "0" "2976" "0" "c.2976G>A" "r.(?)" "p.(Gly992=)" "" "0000683681" "00000110" "90" "745" "0" "745" "0" "c.745G>A" "r.(?)" "p.(Asp249Asn)" "" "0000683689" "00000110" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Arg?Cys)" "" "0000684783" "00000110" "30" "344" "0" "344" "0" "c.344C>T" "r.(?)" "p.(Thr115Met)" "" "0000691166" "00000110" "30" "548" "-20" "548" "-20" "c.548-20C>T" "r.(=)" "p.(=)" "" "0000691169" "00000110" "70" "1738" "0" "1738" "0" "c.1738G>A" "r.(?)" "p.(Val580Ile)" "" "0000691170" "00000110" "90" "2911" "0" "2912" "0" "c.2911_2912del" "r.(?)" "p.(Arg971GlufsTer4)" "" "0000723679" "00000110" "50" "181" "0" "181" "0" "c.181G>C" "r.(?)" "p.(Gly61Arg)" "" "0000723682" "00000110" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Cys496Ter)" "" "0000723683" "00000110" "10" "1538" "-8" "1538" "-8" "c.1538-8C>G" "r.(=)" "p.(=)" "" "0000723684" "00000110" "10" "1757" "-18" "1757" "-18" "c.1757-18C>A" "r.(=)" "p.(=)" "" "0000723685" "00000110" "50" "1807" "0" "1807" "0" "c.1807C>G" "r.(?)" "p.(Arg603Gly)" "" "0000723686" "00000110" "10" "2532" "0" "2532" "0" "c.2532G>A" "r.(?)" "p.(Ala844=)" "" "0000723687" "00000110" "30" "2979" "0" "2979" "0" "c.2979G>A" "r.(?)" "p.(Thr993=)" "" "0000730363" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "" "0000730370" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000730371" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000730372" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000730373" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000730374" "00000110" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "14" "0000786891" "00000110" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Ter)" "7" "0000786892" "00000110" "70" "2430" "0" "2430" "0" "c.2430del" "r.(?)" "p.(Thr811ProfsTer20)" "13" "0000787099" "00000110" "70" "1061" "-1" "2983" "0" "c.(1060+1_1061-1)_(*1_?)del" "r.?" "p.?" "7i_15_" "0000787308" "00000110" "50" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Asp400Asn)" "8" "0000805370" "00000110" "90" "138" "0" "138" "0" "c.138T>A" "r.(?)" "p.(Cys46Ter)" "" "0000805371" "00000110" "30" "257" "-10" "257" "-10" "c.257-10G>C" "r.(=)" "p.(=)" "" "0000805372" "00000110" "50" "1193" "0" "1193" "0" "c.1193C>T" "r.(?)" "p.(Ala398Val)" "" "0000805373" "00000110" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Cys496Ter)" "" "0000853148" "00000110" "50" "167" "0" "167" "0" "c.167G>A" "r.(?)" "p.(Arg56His)" "" "0000853149" "00000110" "30" "855" "0" "855" "0" "c.855G>A" "r.(?)" "p.(Ala285=)" "" "0000853150" "00000110" "30" "1125" "0" "1125" "0" "c.1125C>T" "r.(?)" "p.(Asp375=)" "" "0000853151" "00000110" "70" "1478" "0" "1478" "0" "c.1478C>T" "r.(?)" "p.(Thr493Ile)" "" "0000862679" "00000110" "30" "86" "19" "86" "19" "c.86+19G>T" "r.(=)" "p.(=)" "" "0000862680" "00000110" "30" "1061" "-20" "1061" "-20" "c.1061-20C>T" "r.(=)" "p.(=)" "" "0000862681" "00000110" "30" "1290" "0" "1290" "0" "c.1290C>T" "r.(?)" "p.(Tyr430=)" "" "0000862682" "00000110" "30" "1551" "0" "1551" "0" "c.1551C>T" "r.(?)" "p.(Leu517=)" "" "0000862683" "00000110" "50" "1816" "0" "1816" "0" "c.1816C>T" "r.(?)" "p.(Arg606Cys)" "" "0000873537" "00000110" "70" "344" "0" "344" "0" "c.344C>T" "r.(?)" "p.(Thr115Met)" "" "0000873538" "00000110" "70" "" "0" "" "0" "c.1418+1_1419-1)_(2784+1_2785-1)dup" "r.(?)" "p.(?)" "" "0000873904" "00000110" "10" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Thr879Lys)" "" "0000890151" "00000110" "30" "1060" "10" "1060" "10" "c.1060+10C>T" "r.(=)" "p.(=)" "" "0000890152" "00000110" "70" "1104" "0" "1104" "0" "c.1104C>A" "r.(?)" "p.(Tyr368*)" "" "0000890154" "00000110" "50" "1633" "-14" "1633" "-14" "c.1633-14G>A" "r.(=)" "p.(=)" "" "0000890155" "00000110" "10" "2025" "0" "2025" "0" "c.2025C>T" "r.(?)" "p.(Thr675=)" "" "0000890156" "00000110" "50" "2836" "0" "2836" "0" "c.2836C>T" "r.(?)" "p.(Arg946Trp)" "" "0000890157" "00000110" "50" "2869" "0" "2869" "0" "c.2869A>G" "r.(?)" "p.(Lys957Glu)" "" "0000890158" "00000110" "30" "2881" "0" "2881" "0" "c.2881C>T" "r.(?)" "p.(Leu961=)" "" "0000913698" "00000110" "30" "1193" "0" "1193" "0" "c.1193C>T" "r.(?)" "p.(Ala398Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 266 "{{screeningid}}" "{{variantid}}" "0000000009" "0000000226" "0000000011" "0000000200" "0000000012" "0000730370" "0000000014" "0000000198" "0000000016" "0000000208" "0000000020" "0000000212" "0000000025" "0000730372" "0000000030" "0000000193" "0000000031" "0000000190" "0000000034" "0000000194" "0000000035" "0000000197" "0000000041" "0000000211" "0000000042" "0000000215" "0000000043" "0000000216" "0000000044" "0000000218" "0000000045" "0000000220" "0000000046" "0000000221" "0000000047" "0000000185" "0000000048" "0000000189" "0000000049" "0000000192" "0000000050" "0000000195" "0000000051" "0000000209" "0000000056" "0000000222" "0000000057" "0000000191" "0000000058" "0000000186" "0000000062" "0000000227" "0000000064" "0000000199" "0000000068" "0000000196" "0000000070" "0000730373" "0000000072" "0000000217" "0000000073" "0000000219" "0000000075" "0000000184" "0000000076" "0000000225" "0000000078" "0000000214" "0000000085" "0000000187" "0000000086" "0000730371" "0000000087" "0000730374" "0000000088" "0000730363" "0000000089" "0000000210" "0000000090" "0000000213" "0000000091" "0000000223" "0000000092" "0000000224" "0000036031" "0000063156" "0000036032" "0000063157" "0000036033" "0000063158" "0000036034" "0000063159" "0000036035" "0000063160" "0000036036" "0000063161" "0000036037" "0000063162" "0000036038" "0000063163" "0000036039" "0000063164" "0000036040" "0000063165" "0000036041" "0000063166" "0000036042" "0000063167" "0000036043" "0000063168" "0000036044" "0000063169" "0000036045" "0000063170" "0000036046" "0000063171" "0000036047" "0000063172" "0000036048" "0000063173" "0000080957" "0000130043" "0000080986" "0000130072" "0000081120" "0000130206" "0000208837" "0000438826" "0000208968" "0000439030" "0000209860" "0000440089" "0000211494" "0000442991" "0000211494" "0000442992" "0000211494" "0000442993" "0000211495" "0000442994" "0000211495" "0000442995" "0000211495" "0000442996" "0000211495" "0000442997" "0000211496" "0000442998" "0000211496" "0000442999" "0000211496" "0000443000" "0000211497" "0000443001" "0000211497" "0000443002" "0000211497" "0000443003" "0000211498" "0000443004" "0000211498" "0000443005" "0000211498" "0000443006" "0000211498" "0000443007" "0000211498" "0000443008" "0000211499" "0000443009" "0000211499" "0000443010" "0000211500" "0000443011" "0000211500" "0000443012" "0000211501" "0000443013" "0000211501" "0000443014" "0000211502" "0000443015" "0000211502" "0000443016" "0000211503" "0000443017" "0000211503" "0000443018" "0000211504" "0000443019" "0000211504" "0000443020" "0000211505" "0000443021" "0000211505" "0000443022" "0000211506" "0000443023" "0000211506" "0000443024" "0000211507" "0000443025" "0000211507" "0000443026" "0000211508" "0000443027" "0000211508" "0000443028" "0000211509" "0000443029" "0000211509" "0000443030" "0000211510" "0000443031" "0000211510" "0000443032" "0000211511" "0000443033" "0000211511" "0000443034" "0000211512" "0000443035" "0000211512" "0000443036" "0000211513" "0000443037" "0000211513" "0000443038" "0000211514" "0000443039" "0000211514" "0000443040" "0000211515" "0000443041" "0000211515" "0000443042" "0000211516" "0000443043" "0000211517" "0000443045" "0000211517" "0000443046" "0000211518" "0000443047" "0000211518" "0000443048" "0000211519" "0000443049" "0000211519" "0000443050" "0000211520" "0000443051" "0000211520" "0000443052" "0000211521" "0000443053" "0000211521" "0000443054" "0000211522" "0000443055" "0000211522" "0000443056" "0000211523" "0000443057" "0000211523" "0000443058" "0000211524" "0000443059" "0000211524" "0000443060" "0000211525" "0000443061" "0000211525" "0000443062" "0000211526" "0000443063" "0000211526" "0000443064" "0000211527" "0000443065" "0000211527" "0000443066" "0000211528" "0000443067" "0000211528" "0000443068" "0000211529" "0000443069" "0000211529" "0000443070" "0000211530" "0000443071" "0000211530" "0000443072" "0000211531" "0000443073" "0000211531" "0000443074" "0000211532" "0000443075" "0000211532" "0000443076" "0000211533" "0000443077" "0000211533" "0000443078" "0000211534" "0000443079" "0000211534" "0000443080" "0000211535" "0000443081" "0000211535" "0000443082" "0000211536" "0000443083" "0000211536" "0000443084" "0000211536" "0000443085" "0000211536" "0000443086" "0000211536" "0000443087" "0000211536" "0000443088" "0000211536" "0000443089" "0000211536" "0000443090" "0000211536" "0000443091" "0000211536" "0000443092" "0000211536" "0000443093" "0000211536" "0000443094" "0000211536" "0000443095" "0000211536" "0000443096" "0000211536" "0000443097" "0000211536" "0000443098" "0000211536" "0000443099" "0000211537" "0000443100" "0000211537" "0000443101" "0000211538" "0000443102" "0000211538" "0000443103" "0000211539" "0000443104" "0000211539" "0000443105" "0000211540" "0000443106" "0000211540" "0000443107" "0000211541" "0000443108" "0000211541" "0000443109" "0000211542" "0000443110" "0000211542" "0000443111" "0000211543" "0000443112" "0000211543" "0000443113" "0000211544" "0000443114" "0000211544" "0000443115" "0000211545" "0000443116" "0000211545" "0000443117" "0000211546" "0000443118" "0000211546" "0000443119" "0000211547" "0000443120" "0000211547" "0000443121" "0000211548" "0000443122" "0000211548" "0000443123" "0000211549" "0000443124" "0000211549" "0000443125" "0000211550" "0000443126" "0000211550" "0000443127" "0000211551" "0000443128" "0000211551" "0000443129" "0000211552" "0000443130" "0000211552" "0000443131" "0000211553" "0000443132" "0000211553" "0000443133" "0000211554" "0000443134" "0000211554" "0000443135" "0000211555" "0000443136" "0000211555" "0000443137" "0000211556" "0000443138" "0000211556" "0000443139" "0000211557" "0000443140" "0000211557" "0000443141" "0000220135" "0000455035" "0000220135" "0000455036" "0000220136" "0000455037" "0000220136" "0000455038" "0000220137" "0000455039" "0000220137" "0000455040" "0000291688" "0000648377" "0000291689" "0000648378" "0000291690" "0000648379" "0000296422" "0000653111" "0000301118" "0000664013" "0000301119" "0000664014" "0000301120" "0000664015" "0000301121" "0000664016" "0000301122" "0000664017" "0000301123" "0000664018" "0000301179" "0000664074" "0000301180" "0000664075" "0000301181" "0000664076" "0000301182" "0000664077" "0000301183" "0000664078" "0000301184" "0000664079" "0000301185" "0000664080" "0000301186" "0000664081" "0000301187" "0000664082" "0000301188" "0000664083" "0000301227" "0000664122" "0000301239" "0000664134" "0000301240" "0000664135" "0000301241" "0000664136" "0000301245" "0000664140" "0000301254" "0000664149" "0000301264" "0000664159" "0000305447" "0000669135" "0000306937" "0000670754" "0000307274" "0000673869" "0000307274" "0000673870" "0000309181" "0000683681" "0000309181" "0000683689" "0000309881" "0000684783" "0000375540" "0000786891" "0000375541" "0000786892" "0000375748" "0000787099" "0000375957" "0000787308" "0000376191" "0000000210" "0000376192" "0000000211" "0000399077" "0000000227" "0000415682" "0000873537" "0000415682" "0000873538" "0000415985" "0000873904"