### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LMX1B) # 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}}" "LMX1B" "LIM homeobox transcription factor 1, beta" "9" "q33.3" "unknown" "NG_017039.1" "UD_132118417368" "" "http://www.LOVD.nl/LMX1B" "" "1" "6654" "4010" "602575" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/LMX1B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00081" "2013-05-27 23:46:53" "00006" "2025-11-20 12:33:25" ## Transcripts ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00011459" "LMX1B" "transcript variant 3" "001" "NM_001174146.1" "" "NP_001167617.1" "" "" "" "-7" "5802" "1221" "129376722" "129463311" "" "0000-00-00 00:00:00" "" "" "00023818" "LMX1B" "transcript variant 1" "003" "NM_002316.3" "" "NP_002307.2" "" "" "" "-7" "5769" "1188" "129376722" "129463311" "00006" "2013-05-27 16:35:00" "" "" "00023819" "LMX1B" "transcript variant 2" "002" "NM_001174147.1" "" "NP_001167618.1" "" "" "" "-7" "5790" "1209" "129376722" "129463311" "00006" "2013-05-27 16:35:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00134" "NPS" "nail-patella syndrome (NPS)" "AD" "161200" "" "" "" "00006" "2013-05-26 11:53:22" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LMX1B" "00134" ## Individuals ## Do not remove or alter this header ## ## Count = 182 "{{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}}" "00001228" "" "" "" "1" "" "00081" "" "" "" "" "" "" "0" "" "" "" "" "00001229" "" "" "" "1" "" "00081" "" "" "" "" "" "" "0" "" "" "" "" "00001230" "" "" "" "1" "" "00081" "" "" "" "" "" "" "0" "" "" "" "" "00001240" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001241" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001242" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001243" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001244" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001245" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001246" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001247" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001248" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001249" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001250" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001251" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001252" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001253" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001254" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001255" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001256" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001257" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001258" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001259" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001260" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001261" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001262" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001263" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001264" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001265" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001266" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001267" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001268" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001269" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001270" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001271" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001272" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001273" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001274" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001275" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001276" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001277" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001278" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001279" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001280" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001281" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001282" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001283" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001284" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001285" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001286" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001287" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001288" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001289" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001290" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001291" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001292" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001293" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001294" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001295" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001296" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001297" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001298" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001299" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001300" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001301" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001302" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001303" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001304" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001305" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001306" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001307" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001308" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001309" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001310" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001311" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001312" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001313" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001314" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001315" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001316" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001317" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001318" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001319" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001320" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001321" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001322" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001323" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001324" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001325" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001326" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001327" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001328" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001329" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001330" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001331" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001332" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001333" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001334" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001335" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001336" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001337" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001338" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001339" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001340" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001341" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001342" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001343" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001344" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001345" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001346" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001347" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001348" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001349" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001350" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001351" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001352" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001353" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001354" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001355" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001356" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001357" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001358" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001359" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001360" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001361" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001362" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001363" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001364" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001365" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001366" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001367" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001368" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001369" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001370" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001371" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001372" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001373" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001374" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001375" "" "" "" "4" "" "00081" "{PMID:Sato 2005:15774843}, {DOI:Sato 2005:10.1203/01.PDR.0000157674.63621.2C}" "3-generation family, affected paternal grandfather, father, paternal uncle and daugther" "F" "no" "Japan" "" "0" "" "" "" "Pat1" "00001376" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001377" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001378" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001379" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001380" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001381" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001382" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00001383" "" "" "" "1" "" "00081" "" "" "?" "no" "" "" "" "" "" "" "" "00029680" "" "" "" "3" "" "01217" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "family, 3 affecteds (F, 2M)" "F;M" "no" "France" "" "0" "" "" "" "25898926-Fam1" "00029682" "" "" "" "1" "" "01217" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "family, 2 affected (2F)" "F" "" "France" "" "0" "" "" "" "25898926-Fam3" "00029720" "" "" "" "1" "" "01217" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "M" "no" "" "" "0" "" "" "" "" "00029721" "" "" "" "1" "" "01217" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "F" "no" "(France)" "" "0" "" "" "" "25898926-Fam5" "00029730" "" "" "" "1" "" "01217" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "M" "no" "(France)" "" "0" "" "" "" "" "00029731" "" "" "" "1" "" "01217" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "F" "no" "(France)" "" "0" "" "" "" "" "00029734" "" "" "" "2" "" "01217" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "F" "no" "(France)" "" "0" "" "" "" "" "00029736" "" "" "" "1" "" "01217" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "M" "no" "(France)" "" "0" "" "" "" "" "00029737" "" "" "" "1" "" "01217" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "F" "no" "(France)" "" "0" "" "" "" "" "00029738" "" "" "" "1" "" "01217" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "M" "no" "(France)" "" "0" "" "" "" "" "00029739" "" "" "" "1" "" "01217" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "F" "" "(France)" "" "0" "" "" "" "" "00029740" "" "" "" "1" "" "01217" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "M" "" "(France)" "" "0" "" "" "" "" "00029741" "" "" "" "1" "" "01217" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "F" "" "(France)" "" "0" "" "" "" "" "00029742" "" "" "" "1" "" "01217" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "F" "" "(France)" "" "0" "" "" "" "" "00029743" "" "" "" "1" "" "01217" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "M" "" "(France)" "" "0" "" "" "" "" "00029744" "" "" "" "1" "" "01217" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "F" "no" "(France)" "" "0" "" "" "" "" "00029821" "" "" "" "1" "" "01217" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "F" "no" "(France)" "" "0" "" "" "" "" "00029823" "" "" "" "1" "" "01217" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "M" "no" "(France)" "" "0" "" "" "" "" "00079878" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00132771" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00132772" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213629" "" "" "" "1" "" "01741" "" "" "M" "?" "" "" "0" "" "" "" "" "00295516" "" "" "" "1" "" "03624" "" "" "" "" "" "" "" "" "" "" "" "00295517" "" "" "" "1" "" "03624" "" "" "" "" "" "" "" "" "" "" "" "00295518" "" "" "" "3" "" "03624" "" "" "" "" "" "" "" "" "" "" "" "00295519" "" "" "" "5" "" "03624" "" "" "" "" "" "" "" "" "" "" "" "00295520" "" "" "" "1" "" "03624" "" "" "" "" "" "" "" "" "" "" "" "00295521" "" "" "" "1" "" "03624" "" "" "" "" "" "" "" "" "" "" "" "00295522" "" "" "" "1" "" "03624" "" "" "" "" "" "" "" "" "" "" "" "00295614" "" "" "" "1" "" "00006" "{PMID:Sato 2005:15774843}, {DOI:Sato 2005:10.1203/01.PDR.0000157674.63621.2C}" "2-generation family, 1 affected, healthy parents" "M" "no" "Japan" "" "0" "" "" "" "Pat3" "00315279" "" "" "" "1" "" "03803" "{PMID:Negrisolo 2018:29973660}" "" "F" "" "Italy" "" "0" "" "" "Italy" "patient" "00440421" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED1431.1" "00451444" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00460204" "" "" "" "1" "" "01741" "" "" "F" "" "" "" "" "" "" "" "" "00469886" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 181 "{{individualid}}" "{{diseaseid}}" "00001228" "00134" "00001229" "00134" "00001240" "00134" "00001241" "00134" "00001242" "00134" "00001243" "00134" "00001244" "00134" "00001245" "00134" "00001246" "00134" "00001247" "00134" "00001248" "00134" "00001249" "00134" "00001250" "00134" "00001251" "00134" "00001252" "00134" "00001253" "00134" "00001254" "00134" "00001255" "00134" "00001256" "00134" "00001257" "00134" "00001258" "00134" "00001259" "00134" "00001260" "00134" "00001261" "00134" "00001262" "00134" "00001263" "00134" "00001264" "00134" "00001265" "00134" "00001266" "00134" "00001267" "00134" "00001268" "00134" "00001269" "00134" "00001270" "00134" "00001271" "00134" "00001272" "00134" "00001273" "00134" "00001274" "00134" "00001275" "00134" "00001276" "00134" "00001277" "00134" "00001278" "00134" "00001279" "00134" "00001280" "00134" "00001281" "00134" "00001282" "00134" "00001283" "00134" "00001284" "00134" "00001285" "00134" "00001286" "00134" "00001287" "00134" "00001288" "00134" "00001289" "00134" "00001290" "00134" "00001291" "00134" "00001292" "00134" "00001293" "00134" "00001294" "00134" "00001295" "00134" "00001296" "00134" "00001297" "00134" "00001298" "00134" "00001299" "00134" "00001300" "00134" "00001301" "00134" "00001302" "00134" "00001303" "00134" "00001304" "00134" "00001305" "00134" "00001306" "00134" "00001307" "00134" "00001308" "00134" "00001309" "00134" "00001310" "00134" "00001311" "00134" "00001312" "00134" "00001313" "00134" "00001314" "00134" "00001315" "00134" "00001316" "00134" "00001317" "00134" "00001318" "00134" "00001319" "00134" "00001320" "00134" "00001321" "00134" "00001322" "00134" "00001323" "00134" "00001324" "00134" "00001325" "00134" "00001326" "00134" "00001327" "00134" "00001328" "00134" "00001329" "00134" "00001330" "00134" "00001331" "00134" "00001332" "00134" "00001333" "00134" "00001334" "00134" "00001335" "00134" "00001336" "00134" "00001337" "00134" "00001338" "00134" "00001339" "00134" "00001340" "00134" "00001341" "00134" "00001342" "00134" "00001343" "00134" "00001344" "00134" "00001345" "00134" "00001346" "00134" "00001347" "00134" "00001348" "00134" "00001349" "00134" "00001350" "00134" "00001351" "00134" "00001352" "00134" "00001353" "00134" "00001354" "00134" "00001355" "00134" "00001356" "00134" "00001357" "00134" "00001358" "00134" "00001359" "00134" "00001360" "00134" "00001361" "00134" "00001362" "00134" "00001363" "00134" "00001364" "00134" "00001365" "00134" "00001366" "00134" "00001367" "00134" "00001368" "00134" "00001369" "00134" "00001370" "00134" "00001371" "00134" "00001372" "00134" "00001373" "00134" "00001374" "00134" "00001375" "00134" "00001376" "00134" "00001377" "00134" "00001378" "00134" "00001379" "00134" "00001380" "00134" "00001381" "00134" "00001382" "00134" "00001383" "00134" "00029680" "00134" "00029682" "00134" "00029720" "00134" "00029721" "00134" "00029730" "00134" "00029731" "00134" "00029734" "00134" "00029736" "00134" "00029737" "00134" "00029738" "00134" "00029739" "00134" "00029740" "00134" "00029741" "00134" "00029742" "00134" "00029743" "00134" "00029744" "00134" "00029821" "00134" "00029823" "00134" "00079878" "00134" "00132771" "00134" "00132772" "00134" "00213629" "00134" "00295516" "00134" "00295517" "00134" "00295518" "00134" "00295519" "00134" "00295520" "00134" "00295521" "00134" "00295522" "00134" "00295614" "00134" "00315279" "00134" "00440421" "00198" "00451444" "00134" "00460204" "00134" "00469886" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00134, 00198, 05517 ## Count = 14 "{{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}}" "0000027781" "00134" "00029821" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059594" "00134" "00079878" "01741" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081916" "00134" "00029680" "01217" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000081917" "00134" "00029682" "01217" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000081918" "00134" "00029721" "01217" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000162081" "00134" "00213629" "01741" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Myopathy, dd Nail patella syndrome" "" "0000223092" "00134" "00295521" "03624" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223093" "00134" "00295521" "03624" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223178" "00134" "00295614" "00006" "Isolated (sporadic)" "14y" "proteinuria detected by urinary screening program school children; hypoplastic nails, limited extension elbows; radiologic examination absent patella and iliac horns; iris nodules indicated in angulus iridocornealis by ophthalmologist; urine severe proteinuria (urine protein 1.5–2.5 g/d), no hematuria; serum total protein of 5.6 g/dL, albumin 3.3 g/dL, blood urea nitrogen 14 mg/dL, creatinine 0.53 mg/dL; creatinine clearance 129 mL/min; renal biopsy minimal glomerular change detected with light microscopy, electron microscopy NPS specific histologic findings irregular thickening glomerular basement membrane contained patchy electron-lucent areas (moth-eaten appearance), fibers with striated collagen periodicity" "" "" "" "" "" "" "" "" "NPS" "nail-patella syndrome" "" "0000223180" "00134" "00001375" "00006" "Familial, autosomal dominant" "03y" "proteinuria, hematuria, absent nails thumb and index fingers, hypoplastic nails in others; limited extension\r\nand supination elbow joints; urine mild hematuria, mild proteinuria, glucosuria; serum total protein 6.7 g/dL, albumin 3.5 g/dL, blood urea nitrogen 7 mg/dL, creatinine 0.2 mg/dL, uric acid 3.2 mg/dL, sodium 141 mEq/L, potassium 4.4 mEq/L, chloride 105 mEq/L, calcium 9.8mg/dL, phosphate 4.8 mg/dL, glucose 108 mg/dL; radiology iliac horns, absent patellae; no glaucoma; paternal grandfather died (35y) from renal insufficiency, father and paternal uncle proteinuria, hypoplastic nails" "" "" "" "" "" "" "" "" "NPS" "nail-patella syndrome" "" "0000239031" "00134" "00315279" "03803" "Familial, autosomal dominant" "" "bilateral clinodactyly and the fingernails dysplasia, bilateral coxa valga ; no eye anomalies; bilateral renal hypodysplasia and bilateral VUR grade III; kidney neonatale renal failure with serum creatinine concentration 2.3 mg/dl, ultrasonographic evidence of small kidney, associated with both hyperechogenicity and lack of cortical-medullary differentiation; 7y-renal transplant" "1d" "" "" "" "" "" "" "" "" "nail patella syndrome" "" "0000330331" "00198" "00440421" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Nail-patella syndrome (MIM #161200)" "" "" "0000347932" "00134" "00460204" "01741" "Unknown" "" "" "" "" "" "" "" "" "" "" "161200" "Nail-patella syndrome" "" "0000355031" "05517" "00469886" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "NPS" "skeletal dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 182 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000995" "00001228" "1" "00081" "00081" "2013-05-27 21:40:31" "" "" "SEQ" "DNA" "" "" "0000000996" "00001229" "1" "00081" "00081" "2013-05-27 23:34:13" "" "" "SEQ" "DNA" "" "" "0000000997" "00001230" "1" "00081" "00081" "2013-05-28 00:15:10" "" "" "SEQ" "DNA" "" "" "0000001007" "00001240" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001008" "00001241" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001009" "00001242" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001010" "00001243" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001011" "00001244" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001012" "00001245" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001013" "00001246" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001014" "00001247" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001015" "00001248" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001016" "00001249" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001017" "00001250" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001018" "00001251" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001019" "00001252" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001020" "00001253" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001021" "00001254" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001022" "00001255" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001023" "00001256" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001024" "00001257" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001025" "00001258" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001026" "00001259" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001027" "00001260" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001028" "00001261" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001029" "00001262" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001030" "00001263" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001031" "00001264" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001032" "00001265" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001033" "00001266" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001034" "00001267" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001035" "00001268" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001036" "00001269" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001037" "00001270" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001038" "00001271" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001039" "00001272" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001040" "00001273" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001041" "00001274" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001042" "00001275" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001043" "00001276" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001044" "00001277" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001045" "00001278" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001046" "00001279" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001047" "00001280" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001048" "00001281" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001049" "00001282" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001050" "00001283" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001051" "00001284" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001052" "00001285" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001053" "00001286" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001054" "00001287" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001055" "00001288" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001056" "00001289" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001057" "00001290" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001058" "00001291" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001059" "00001292" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001060" "00001293" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001061" "00001294" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001062" "00001295" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001063" "00001296" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001064" "00001297" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001065" "00001298" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001066" "00001299" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001067" "00001300" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001068" "00001301" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001069" "00001302" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001070" "00001303" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001071" "00001304" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001072" "00001305" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001073" "00001306" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001074" "00001307" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001075" "00001308" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001076" "00001309" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001077" "00001310" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001078" "00001311" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001079" "00001312" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001080" "00001313" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001081" "00001314" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001082" "00001315" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001083" "00001316" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001084" "00001317" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001085" "00001318" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001086" "00001319" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001087" "00001320" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001088" "00001321" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001089" "00001322" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001090" "00001323" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001091" "00001324" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001092" "00001325" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001093" "00001326" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001094" "00001327" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001095" "00001328" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001096" "00001329" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001097" "00001330" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001098" "00001331" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001099" "00001332" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001100" "00001333" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001101" "00001334" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001102" "00001335" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001103" "00001336" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001104" "00001337" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001105" "00001338" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001106" "00001339" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001107" "00001340" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001108" "00001341" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001109" "00001342" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001110" "00001343" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001111" "00001344" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001112" "00001345" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001113" "00001346" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001114" "00001347" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001115" "00001348" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001116" "00001349" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001117" "00001350" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001118" "00001351" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001119" "00001352" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001120" "00001353" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001121" "00001354" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001122" "00001355" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001123" "00001356" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001124" "00001357" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001125" "00001358" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001126" "00001359" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001127" "00001360" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001128" "00001361" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001129" "00001362" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001130" "00001363" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001131" "00001364" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001132" "00001365" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001133" "00001366" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001134" "00001367" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001135" "00001368" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001136" "00001369" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001137" "00001370" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001138" "00001371" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001139" "00001372" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001140" "00001373" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001141" "00001374" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001142" "00001375" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001143" "00001376" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001144" "00001377" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001145" "00001378" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001146" "00001379" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001147" "00001380" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001148" "00001381" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001149" "00001382" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000001150" "00001383" "1" "00081" "00081" "2013-06-14 14:17:59" "" "" "SEQ" "DNA" "" "" "0000029724" "00029682" "1" "01217" "01217" "2015-01-27 10:44:29" "00006" "2015-02-08 21:51:36" "SEQ" "DNA" "" "" "0000029726" "00029680" "1" "01217" "01217" "2015-01-27 11:09:57" "" "" "SEQ" "DNA" "" "" "0000029767" "00029720" "1" "01217" "01217" "2015-02-02 15:07:33" "" "" "SEQ" "DNA" "" "" "0000029768" "00029721" "1" "01217" "01217" "2015-02-02 15:33:36" "" "" "SEQ" "DNA" "" "" "0000029776" "00029730" "1" "01217" "01217" "2015-02-03 10:42:52" "" "" "SEQ" "DNA" "" "" "0000029777" "00029731" "1" "01217" "01217" "2015-02-03 12:02:36" "" "" "SEQ" "DNA" "" "" "0000029779" "00029734" "1" "01217" "01217" "2015-02-03 14:23:56" "" "" "SEQ" "DNA" "" "" "0000029780" "00029736" "1" "01217" "01217" "2015-02-03 14:38:23" "" "" "SEQ" "DNA" "" "" "0000029781" "00029737" "1" "01217" "01217" "2015-02-03 14:48:11" "" "" "SEQ" "DNA" "" "" "0000029782" "00029738" "1" "01217" "01217" "2015-02-03 14:53:09" "" "" "SEQ" "DNA" "" "" "0000029783" "00029739" "1" "01217" "01217" "2015-02-03 15:04:59" "" "" "SEQ" "DNA" "" "" "0000029784" "00029740" "1" "01217" "01217" "2015-02-03 15:10:03" "" "" "SEQ" "DNA" "" "" "0000029785" "00029741" "1" "01217" "01217" "2015-02-03 15:12:57" "" "" "SEQ" "DNA" "" "" "0000029786" "00029742" "1" "01217" "01217" "2015-02-03 15:17:27" "" "" "SEQ" "DNA" "" "" "0000029787" "00029743" "1" "01217" "01217" "2015-02-03 15:20:33" "" "" "SEQ" "DNA" "" "" "0000029788" "00029744" "1" "01217" "01217" "2015-02-03 15:24:12" "" "" "SEQ" "DNA" "" "" "0000029864" "00029821" "1" "01217" "01217" "2015-02-09 14:22:16" "" "" "SEQ" "DNA" "" "" "0000029866" "00029823" "1" "01217" "01217" "2015-02-09 15:59:07" "" "" "SEQ" "DNA" "" "" "0000079963" "00079878" "1" "01741" "01741" "2016-08-25 14:23:47" "" "" "SEQ" "DNA" "" "" "0000133606" "00132771" "1" "01741" "01741" "2017-11-06 11:40:17" "" "" "SEQ" "DNA" "" "" "0000133607" "00132772" "1" "01741" "01741" "2017-11-06 11:46:52" "" "" "SEQ" "DNA" "" "" "0000214698" "00213629" "1" "01741" "01741" "2019-01-15 15:37:57" "" "" "SEQ" "DNA" "" "" "0000296684" "00295516" "1" "03624" "03624" "2020-03-15 03:01:22" "" "" "PCR" "DNA" "" "" "0000296685" "00295517" "1" "03624" "03624" "2020-03-15 03:23:59" "" "" "PCR" "DNA" "" "" "0000296686" "00295518" "1" "03624" "03624" "2020-03-15 03:33:23" "" "" "PCR" "DNA" "" "" "0000296687" "00295519" "1" "03624" "03624" "2020-03-15 04:33:17" "" "" "PCR" "DNA" "" "" "0000296688" "00295520" "1" "03624" "03624" "2020-03-15 04:47:59" "" "" "PCR" "DNA" "" "" "0000296690" "00295521" "1" "03624" "03624" "2020-03-15 04:56:32" "" "" "PCR" "DNA" "" "" "0000296691" "00295522" "1" "03624" "03624" "2020-03-15 05:04:40" "" "" "PCR" "DNA" "" "" "0000296784" "00295614" "1" "00006" "00006" "2020-03-19 14:44:03" "" "" "SEQ" "DNA" "" "" "0000316455" "00315279" "1" "03803" "03804" "2016-04-12 10:03:20" "00006" "2022-04-28 10:28:00" "SEQ" "DNA" "" "" "0000441906" "00440421" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000453044" "00451444" "1" "01741" "01741" "2024-06-04 13:43:03" "" "" "SEQ" "DNA" "" "" "0000461835" "00460204" "1" "01741" "01741" "2025-01-21 12:08:24" "" "" "SEQ" "DNA" "blood" "" "0000471554" "00469886" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 181 "{{screeningid}}" "{{geneid}}" "0000000995" "LMX1B" "0000000996" "LMX1B" "0000000997" "LMX1B" "0000001007" "LMX1B" "0000001008" "LMX1B" "0000001009" "LMX1B" "0000001010" "LMX1B" "0000001011" "LMX1B" "0000001012" "LMX1B" "0000001013" "LMX1B" "0000001014" "LMX1B" "0000001015" "LMX1B" "0000001016" "LMX1B" "0000001017" "LMX1B" "0000001018" "LMX1B" "0000001019" "LMX1B" "0000001020" "LMX1B" "0000001021" "LMX1B" "0000001022" "LMX1B" "0000001023" "LMX1B" "0000001024" "LMX1B" "0000001025" "LMX1B" "0000001026" "LMX1B" "0000001027" "LMX1B" "0000001028" "LMX1B" "0000001029" "LMX1B" "0000001030" "LMX1B" "0000001031" "LMX1B" "0000001032" "LMX1B" "0000001033" "LMX1B" "0000001034" "LMX1B" "0000001035" "LMX1B" "0000001036" "LMX1B" "0000001037" "LMX1B" "0000001038" "LMX1B" "0000001039" "LMX1B" "0000001040" "LMX1B" "0000001041" "LMX1B" "0000001042" "LMX1B" "0000001043" "LMX1B" "0000001044" "LMX1B" "0000001045" "LMX1B" "0000001046" "LMX1B" "0000001047" "LMX1B" "0000001048" "LMX1B" "0000001049" "LMX1B" "0000001050" "LMX1B" "0000001051" "LMX1B" "0000001052" "LMX1B" "0000001053" "LMX1B" "0000001054" "LMX1B" "0000001055" "LMX1B" "0000001056" "LMX1B" "0000001057" "LMX1B" "0000001058" "LMX1B" "0000001059" 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"0000001107" "LMX1B" "0000001108" "LMX1B" "0000001109" "LMX1B" "0000001110" "LMX1B" "0000001111" "LMX1B" "0000001112" "LMX1B" "0000001113" "LMX1B" "0000001114" "LMX1B" "0000001115" "LMX1B" "0000001116" "LMX1B" "0000001117" "LMX1B" "0000001118" "LMX1B" "0000001119" "LMX1B" "0000001120" "LMX1B" "0000001121" "LMX1B" "0000001122" "LMX1B" "0000001123" "LMX1B" "0000001124" "LMX1B" "0000001125" "LMX1B" "0000001126" "LMX1B" "0000001127" "LMX1B" "0000001128" "LMX1B" "0000001129" "LMX1B" "0000001130" "LMX1B" "0000001131" "LMX1B" "0000001132" "LMX1B" "0000001133" "LMX1B" "0000001134" "LMX1B" "0000001135" "LMX1B" "0000001136" "LMX1B" "0000001137" "LMX1B" "0000001138" "LMX1B" "0000001139" "LMX1B" "0000001140" "LMX1B" "0000001141" "LMX1B" "0000001142" "LMX1B" "0000001143" "LMX1B" "0000001144" "LMX1B" "0000001145" "LMX1B" "0000001146" "LMX1B" "0000001147" "LMX1B" "0000001148" "LMX1B" "0000001149" "LMX1B" "0000001150" "LMX1B" "0000029724" "LMX1B" "0000029726" "LMX1B" "0000029767" "LMX1B" "0000029768" "LMX1B" "0000029776" "LMX1B" "0000029777" "LMX1B" "0000029779" "LMX1B" "0000029780" "LMX1B" "0000029781" "LMX1B" "0000029782" "LMX1B" "0000029783" "LMX1B" "0000029784" "LMX1B" "0000029785" "LMX1B" "0000029786" "LMX1B" "0000029787" "LMX1B" "0000029788" "LMX1B" "0000029864" "LMX1B" "0000029866" "LMX1B" "0000079963" "LMX1B" "0000133606" "LMX1B" "0000133607" "LMX1B" "0000214698" "LMX1B" "0000296684" "LMX1B" "0000296685" "LMX1B" "0000296686" "LMX1B" "0000296687" "LMX1B" "0000296688" "LMX1B" "0000296690" "LMX1B" "0000296691" "LMX1B" "0000296784" "LMX1B" "0000316455" "LMX1B" "0000316455" "PAX2" "0000453044" "LMX1B" "0000461835" "LMX1B" ## 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 = 271 "{{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}}" "0000018070" "0" "55" "9" "129377757" "129377757" "subst" "0" "00081" "LMX1B_000001" "g.129377757G>T" "" "{PMID:Bongers et al. 2005:15928687}" "" "" "" "Unknown" "" "" "0" "" "" "g.126615478G>T" "" "VUS" "" "0000018071" "0" "55" "9" "129377760" "129377760" "subst" "0" "00081" "LMX1B_000002" "g.129377760T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.126615481T>A" "" "VUS" "" "0000018072" "0" "55" "9" "129377625" "129377642" "del" "0" "00081" "LMX1B_000003" "g.129377625_129377642del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.126615346_126615363del" "" "VUS" "" "0000018113" "1" "95" "9" "129376841" "129376842" "delins" "0" "00081" "LMX1B_000144" "g.129376841_129376842delinsT" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.113_114delGGinsT" "" "Unknown" "yes" "" "0" "" "" "g.126614562_126614563delinsT" "" "pathogenic" "" "0000018114" "1" "95" "9" "129377661" "129377661" "subst" "0" "00081" "LMX1B_000125" "g.129377661G>A" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.140-1G>A" "Splice site mutation" "Unknown" "yes" "" "0" "" "" "g.126615382G>A" "" "pathogenic" "" "0000018115" "1" "95" "9" "129377660" "129377660" "subst" "0" "00081" "LMX1B_000123" "g.129377660A>G" "" "{PMID:Clough et al. 1999:10571942}" "" "c.140-2A>G" "Splice site mutation" "Unknown" "yes" "" "0" "" "" "g.126615381A>G" "" "pathogenic" "" "0000018116" "1" "95" "9" "129377677" "129377703" "del" "0" "00081" "LMX1B_000127" "g.129377677_129377703del" "" "{PMID:Clough et al. 1999:10571942}" "" "c.154_180del" "" "Unknown" "yes" "" "0" "" "" "g.126615398_126615424del" "" "pathogenic" "" "0000018117" "1" "95" "9" "129377688" "129377688" "subst" "0" "00081" "LMX1B_000129" "g.129377688T>A" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.166T>A" "" "Unknown" "yes" "" "0" "" "" "g.126615409T>A" "" "pathogenic" "" "0000018118" "1" "95" "9" "129377691" "129377691" "subst" "0" "00081" "LMX1B_000131" "g.129377691G>T" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.169G>T" "" "Unknown" "yes" "" "0" "" "" "g.126615412G>T" "" "pathogenic" "" "0000018119" "1" "95" "9" "129377697" "129377697" "subst" "0" "00081" "LMX1B_000133" "g.129377697T>C" "" "{PMID:Clough et al. 1999:10571942}" "" "c.175T>C" "" "Unknown" "yes" "" "0" "" "" "g.126615418T>C" "" "pathogenic" "" "0000018120" "1" "95" "9" "129377698" "129377698" "subst" "0" "00081" "LMX1B_000135" "g.129377698G>A" "" "{PMID:Bongers et al. 2002:12215822}" "" "c.176G>A" "" "Unknown" "yes" "" "0" "" "" "g.126615419G>A" "" "pathogenic" "" "0000018121" "1" "95" "9" "129377698" "129377698" "subst" "0" "00081" "LMX1B_000137" "g.129377698G>C" "" "{PMID:Clough et al. 1999:10571942}" "" "c.176G>C" "" "Unknown" "yes" "" "0" "" "" "g.126615419G>C" "" "pathogenic" "" "0000018122" "1" "95" "9" "129377699" "129377699" "subst" "0" "00081" "LMX1B_000139" "g.129377699C>A" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.177C>A" "" "Unknown" "yes" "" "0" "" "" "g.126615420C>A" "" "pathogenic" "" "0000018123" "1" "95" "9" "129377708" "129377708" "del" "0" "00081" "LMX1B_000140" "g.129377708del" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.184delC" "" "Unknown" "yes" "" "0" "" "" "g.126615429del" "" "pathogenic" "" "0000018124" "1" "95" "9" "129377730" "129377730" "subst" "0" "00081" "LMX1B_000141" "g.129377730C>T" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.208C>T" "" "Unknown" "yes" "" "0" "" "" "g.126615451C>T" "" "pathogenic" "" "0000018125" "1" "95" "9" "129377736" "129377843" "del" "0" "00081" "LMX1B_000142" "g.129377736_129377843del" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.214_321del" "" "Unknown" "yes" "" "0" "" "" "g.126615457_126615564del" "" "pathogenic" "" "0000018126" "1" "95" "9" "129377743" "129377743" "subst" "0" "00081" "LMX1B_000143" "g.129377743C>A" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.221C>A" "" "Unknown" "yes" "" "0" "" "" "g.126615464C>A" "" "pathogenic" "" "0000018127" "1" "95" "9" "129377745" "129377753" "del" "0" "00081" "LMX1B_000004" "g.129377745_129377753del" "" "{PMID:Clough et al. 1999:10571942}" "" "c.223_231del" "" "Unknown" "yes" "" "0" "" "" "g.126615466_126615474del" "" "pathogenic" "" "0000018128" "1" "95" "9" "129377748" "129377748" "subst" "0" "00081" "LMX1B_000005" "g.129377748T>C" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.226T>C" "" "Unknown" "yes" "" "0" "" "" "g.126615469T>C" "" "pathogenic" "" "0000018129" "1" "95" "9" "129377749" "129377749" "subst" "0" "00081" "LMX1B_000006" "g.129377749G>A" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.227G>A" "" "Unknown" "yes" "" "0" "" "" "g.126615470G>A" "" "pathogenic" "" "0000018130" "1" "95" "9" "129377750" "129377750" "subst" "0" "00081" "LMX1B_000007" "g.129377750G>A" "" "{PMID:Clough et al. 1999:10571942}" "" "c.228G>A" "" "Unknown" "yes" "" "0" "" "" "g.126615471G>A" "" "pathogenic" "" "0000018131" "1" "95" "9" "129377751" "129377751" "subst" "0" "00081" "LMX1B_000008" "g.129377751C>A" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.229C>A" "" "Unknown" "yes" "" "0" "" "" "g.126615472C>A" "" "pathogenic" "" "0000018132" "1" "95" "9" "129377751" "129377751" "subst" "0" "00081" "LMX1B_000009" "g.129377751C>T" "" "{PMID:Clough et al. 1999:10571942}" "" "c.229C>T" "" "Unknown" "yes" "" "0" "" "" "g.126615472C>T" "" "pathogenic" "" "0000018133" "1" "95" "9" "129377752" "129377752" "subst" "0" "00081" "LMX1B_000010" "g.129377752A>T" "" "{PMID:Bongers et al. 2002:12215822}" "" "c.230A>T" "" "Unknown" "yes" "" "0" "" "" "g.126615473A>T" "" "pathogenic" "" "0000018134" "1" "95" "9" "129377753" "129377753" "subst" "0" "00081" "LMX1B_000011" "g.129377753C>G" "" "{PMID:Clough et al. 1999:10571942}" "" "c.231C>G" "" "Unknown" "yes" "" "0" "" "" "g.126615474C>G" "" "pathogenic" "" "0000018135" "1" "95" "9" "129377754" "129377754" "subst" "0" "00081" "LMX1B_000012" "g.129377754G>T" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.232G>T" "" "Unknown" "yes" "" "0" "" "" "g.126615475G>T" "" "pathogenic" "" "0000018136" "1" "95" "9" "129377760" "129377760" "subst" "0" "00081" "LMX1B_000013" "g.129377760T>C" "" "{PMID:Clough et al. 1999:10571942}" "" "c.238T>C" "" "Unknown" "yes" "" "0" "" "" "g.126615481T>C" "" "pathogenic" "" "0000018137" "1" "95" "9" "129377761" "129377761" "delins" "0" "00081" "LMX1B_000014" "g.129377761delinsAA" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.239delGinsAA" "" "Unknown" "yes" "" "0" "" "" "g.126615482delinsAA" "" "pathogenic" "" "0000018138" "1" "95" "9" "129377764" "129377764" "subst" "0" "00081" "LMX1B_000015" "g.129377764T>G" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.242T>G" "" "Unknown" "yes" "" "0" "" "" "g.126615485T>G" "" "pathogenic" "" "0000018139" "1" "95" "9" "129377766" "129377766" "subst" "0" "00081" "LMX1B_000016" "g.129377766C>T" "" "{PMID:Vollrath et al. 1998:9618165}" "" "c.244C>T" "" "Unknown" "yes" "" "0" "" "" "g.126615487C>T" "" "pathogenic" "" "0000018140" "1" "95" "9" "129377769" "129377769" "subst" "0" "00081" "LMX1B_000017" "g.129377769T>C" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.247T>C" "" "Unknown" "yes" "" "0" "" "" "g.126615490T>C" "" "pathogenic" "" "0000018141" "1" "95" "9" "129377769" "129377769" "subst" "0" "00081" "LMX1B_000018" "g.129377769T>G" "" "{PMID:Clough et al. 1999:10571942}" "" "c.247T>G" "" "Unknown" "yes" "" "0" "" "" "g.126615490T>G" "" "pathogenic" "" "0000018142" "1" "95" "9" "129377770" "129377770" "subst" "0" "00081" "LMX1B_000019" "g.129377770G>A" "" "{PMID:Clough et al. 1999:10571942}" "" "c.248G>A" "" "Unknown" "yes" "" "0" "" "" "g.126615491G>A" "" "pathogenic" "" "0000018143" "1" "95" "9" "129377770" "129377770" "subst" "0" "00081" "LMX1B_000020" "g.129377770G>T" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.248G>T" "" "Unknown" "yes" "" "0" "" "" "g.126615491G>T" "" "pathogenic" "" "0000018144" "1" "95" "9" "129377781" "129377826" "del" "0" "00081" "LMX1B_000024" "g.129377781_129377826del" "" "{PMID:Clough et al. 1999:10571942}" "" "c.256_301del" "" "Unknown" "yes" "" "0" "" "" "g.126615502_126615547del" "" "pathogenic" "" "0000018145" "1" "95" "9" "129377778" "129377778" "dup" "0" "00081" "LMX1B_000021" "g.129377778dup" "" "{PMID:Clough et al. 1999:10571942}" "" "c.256dupT" "" "Unknown" "yes" "" "0" "" "" "g.126615499dup" "" "pathogenic" "" "0000018146" "1" "95" "9" "129377778" "129377778" "subst" "0" "00081" "LMX1B_000022" "g.129377778T>C" "" "{PMID:Clough et al. 1999:10571942}" "" "c.256T>C" "" "Unknown" "yes" "" "0" "" "" "g.126615499T>C" "" "pathogenic" "" "0000018147" "1" "95" "9" "129377778" "129377778" "subst" "0" "00081" "LMX1B_000023" "g.129377778T>G" "" "{PMID:Bongers et al. 2005:15928687}" "" "c.256T>G" "" "Unknown" "yes" "" "0" "" "" "g.126615499T>G" "" "pathogenic" "" "0000018148" "1" "95" "9" "129377778" "129377778" "subst" "0" "00081" "LMX1B_000023" "g.129377778T>G" "" "{PMID:Bongers et al. 2005:15928687}" "" "c.256T>G" "" "Unknown" "yes" "" "0" "" "" "g.126615499T>G" "" "pathogenic" "" "0000018149" "1" "95" "9" "129377781" "129377781" "subst" "0" "00081" "LMX1B_000025" "g.129377781C>T" "" "{PMID:Clough et al. 1999:10571942}" "" "c.259C>T" "" "Unknown" "yes" "" "0" "" "" "g.126615502C>T" "" "pathogenic" "" "0000018150" "1" "95" "9" "129377791" "129377792" "dup" "0" "00081" "LMX1B_000026" "g.129377791_129377792dup" "" "{PMID:Clough et al. 1999:10571942}" "" "c.268dupTC" "" "Unknown" "yes" "" "0" "" "" "g.126615512_126615513dup" "" "pathogenic" "" "0000018151" "1" "95" "9" "129377791" "129377792" "ins" "0" "00081" "LMX1B_000027" "g.129377791_129377792ins57" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.269_270ins57" "insertion mutation in the Lim-A domain, resulting in disruption of the Zn-finger" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000018152" "1" "95" "9" "129377791" "129377798" "del" "0" "00081" "LMX1B_000117" "g.129377791_129377798del" "" "{PMID:Clough et al. 1999:10571942}" "" "c.269_276del" "" "Unknown" "yes" "" "0" "" "" "g.126615512_126615519del" "" "pathogenic" "" "0000018153" "1" "95" "9" "129377804" "129377804" "subst" "0" "00081" "LMX1B_000118" "g.129377804C>G" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.282C>G" "" "Unknown" "yes" "" "0" "" "" "g.126615525C>G" "" "pathogenic" "" "0000018154" "1" "95" "9" "129377825" "129377826" "del" "0" "00081" "LMX1B_000119" "g.129377825_129377826del" "" "{PMID:Vollrath et al. 1998:9618165}" "" "c.302_303delTG" "" "Unknown" "yes" "" "0" "" "" "g.126615546_126615547del" "" "pathogenic" "" "0000018155" "1" "95" "9" "129377830" "129377830" "subst" "0" "00081" "LMX1B_000120" "g.129377830G>C" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.308G>C" "" "Unknown" "yes" "" "0" "" "" "g.126615551G>C" "" "pathogenic" "" "0000018156" "1" "95" "9" "129377834" "129377834" "del" "0" "00081" "LMX1B_000121" "g.129377834del" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.312delA" "" "Unknown" "yes" "" "0" "" "" "g.126615555del" "" "pathogenic" "" "0000018157" "1" "95" "9" "129377835" "129377835" "del" "0" "00081" "LMX1B_000122" "g.129377835del" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.313delC" "" "Unknown" "yes" "" "0" "" "" "g.126615556del" "" "pathogenic" "" "0000018158" "1" "95" "9" "129377839" "129377839" "subst" "0" "00081" "LMX1B_000124" "g.129377839A>G" "" "{PMID:Clough et al. 1999:10571942}" "" "c.317A>G" "" "Unknown" "yes" "" "0" "" "" "g.126615560A>G" "" "pathogenic" "" "0000018159" "1" "95" "9" "129377842" "129377842" "del" "0" "00081" "LMX1B_000126" "g.129377842del" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.320delA" "" "Unknown" "yes" "" "0" "" "" "g.126615563del" "" "pathogenic" "" "0000018160" "1" "95" "9" "129377843" "129377843" "subst" "0" "00081" "LMX1B_000128" "g.129377843C>G" "" "{PMID:Clough et al. 1999:10571942}" "" "c.321C>G" "" "Unknown" "yes" "" "0" "" "" "g.126615564C>G" "" "pathogenic" "" "0000018161" "1" "95" "9" "129377844" "129377844" "subst" "0" "00081" "LMX1B_000130" "g.129377844C>T" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.322C>T" "" "Unknown" "yes" "" "0" "" "" "g.126615565C>T" "" "pathogenic" "" "0000018162" "1" "95" "9" "129377844" "129377844" "del" "0" "00081" "LMX1B_000132" "g.129377844del" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.322delC" "" "Unknown" "yes" "" "0" "" "" "g.126615565del" "" "pathogenic" "" "0000018163" "1" "95" "9" "129377847" "129377847" "subst" "0" "00081" "LMX1B_000134" "g.129377847C>T" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.325C>T" "" "Unknown" "yes" "" "0" "" "" "g.126615568C>T" "" "pathogenic" "" "0000018164" "1" "95" "9" "129377849" "129377849" "subst" "0" "00081" "LMX1B_000092" "g.129377849G>A" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.326+1G>A" "Splice site mutation" "Unknown" "yes" "" "0" "" "" "g.126615570G>A" "" "pathogenic" "" "0000018165" "1" "95" "9" "129377851" "129377851" "subst" "0" "00081" "LMX1B_000069" "g.129377851T>C" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.326+3T>C" "Splice site mutation\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "yes" "" "0" "" "" "g.126615572T>C" "" "pathogenic" "" "0000018166" "1" "95" "9" "129377850" "129377850" "subst" "0" "00081" "LMX1B_000068" "g.129377850T>C" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.326+2T>C" "Splice site mutation" "Unknown" "yes" "" "0" "" "" "g.126615571T>C" "" "pathogenic" "" "0000018167" "1" "95" "9" "129453115" "129453122" "del" "0" "00081" "LMX1B_000072" "g.129453115_129453122del" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.327_334del" "" "Unknown" "yes" "" "0" "" "" "g.126690836_126690843del" "" "pathogenic" "" "0000018168" "1" "95" "9" "129453113" "129453113" "subst" "0" "00081" "LMX1B_000071" "g.129453113A>G" "" "{PMID:Clough et al. 1999:10571942}" "" "c.327-2A>G" "Splice site mutation" "Unknown" "yes" "" "0" "" "" "g.126690834A>G" "" "pathogenic" "" "0000018169" "1" "95" "9" "129453131" "129453131" "subst" "0" "00081" "LMX1B_000073" "g.129453131T>C" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.343T>C" "" "Unknown" "yes" "" "0" "" "" "g.126690852T>C" "" "pathogenic" "" "0000018170" "1" "95" "9" "129453141" "129453141" "subst" "0" "00081" "LMX1B_000074" "g.129453141G>A" "" "{PMID:Clough et al. 1999:10571942}" "" "c.353G>A" "" "Unknown" "yes" "" "0" "" "" "g.126690862G>A" "" "pathogenic" "" "0000018171" "1" "95" "9" "129453141" "129453141" "subst" "0" "00081" "LMX1B_000075" "g.129453141G>T" "" "{PMID:Vollrath et al. 1998:9618165}" "" "c.353G>T" "" "Unknown" "yes" "" "0" "" "" "g.126690862G>T" "" "pathogenic" "" "0000018172" "1" "95" "9" "129453146" "129453146" "del" "0" "00081" "LMX1B_000076" "g.129453146del" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.358delG" "" "Unknown" "yes" "" "0" "" "" "g.126690867del" "" "pathogenic" "" "0000018173" "1" "95" "9" "129453179" "129453179" "del" "0" "00081" "LMX1B_000077" "g.129453179del" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.389delG" "" "Unknown" "yes" "" "0" "" "" "g.126690900del" "" "pathogenic" "" "0000018174" "1" "95" "9" "129453190" "129453190" "subst" "0" "00081" "LMX1B_000078" "g.129453190C>A" "" "{PMID:Clough et al. 1999:10571942}" "" "c.402C>A" "" "Unknown" "yes" "" "0" "" "" "g.126690911C>A" "" "pathogenic" "" "0000018175" "1" "95" "9" "129453196" "129453196" "subst" "0" "00081" "LMX1B_000079" "g.129453196C>G" "" "{PMID:Clough et al. 1999:10571942}" "" "c.408C>G" "" "Unknown" "yes" "" "0" "" "" "g.126690917C>G" "" "pathogenic" "" "0000018176" "1" "95" "9" "129453197" "129453197" "subst" "0" "00081" "LMX1B_000080" "g.129453197C>T" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.409C>T" "" "Unknown" "yes" "" "0" "" "" "g.126690918C>T" "" "pathogenic" "" "0000018177" "1" "95" "9" "129453198" "129453198" "subst" "0" "00081" "LMX1B_000081" "g.129453198A>G" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.410A>G" "" "Unknown" "yes" "" "0" "" "" "g.126690919A>G" "" "pathogenic" "" "0000018178" "1" "95" "9" "129453207" "129453207" "subst" "0" "00081" "LMX1B_000082" "g.129453207G>A" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.419G>A" "" "Unknown" "yes" "" "0" "" "" "g.126690928G>A" "" "pathogenic" "" "0000018179" "1" "95" "9" "129453216" "129453216" "subst" "0" "00081" "LMX1B_000083" "g.129453216G>A" "" "{PMID:Bongers et al. 2005:15928687}" "" "c.428G>A" "" "Unknown" "yes" "" "0" "" "" "g.126690937G>A" "" "pathogenic" "" "0000018180" "1" "95" "9" "129453216" "129453216" "subst" "0" "00081" "LMX1B_000083" "g.129453216G>A" "" "{PMID:Bongers et al. 2005:15928687}" "" "c.428G>A" "" "Unknown" "yes" "" "0" "" "" "g.126690937G>A" "" "pathogenic" "" "0000018181" "1" "95" "9" "129453216" "129453216" "subst" "0" "00081" "LMX1B_000084" "g.129453216G>C" "" "{PMID:Clough et al. 1999:10571942}" "" "c.428G>C" "" "Unknown" "yes" "" "0" "" "" "g.126690937G>C" "" "pathogenic" "" "0000018182" "1" "95" "9" "129453225" "129453225" "subst" "0" "00081" "LMX1B_000085" "g.129453225G>A" "" "{PMID:Clough et al. 1999:10571942}" "" "c.437G>A" "" "Unknown" "yes" "" "0" "" "" "g.126690946G>A" "" "pathogenic" "" "0000018183" "1" "95" "9" "129453225" "129453225" "subst" "0" "00081" "LMX1B_000086" "g.129453225G>T" "" "{PMID:Clough et al. 1999:10571942}" "" "c.437G>T" "" "Unknown" "yes" "" "0" "" "" "g.126690946G>T" "" "pathogenic" "" "0000018184" "1" "95" "9" "129453231" "129453231" "subst" "0" "00081" "LMX1B_000087" "g.129453231G>C" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.443G>C" "" "Unknown" "yes" "" "0" "" "" "g.126690952G>C" "" "pathogenic" "" "0000018185" "1" "95" "9" "129453253" "129453254" "ins" "0" "00081" "LMX1B_000088" "g.129453253_129453254insGAAT" "" "{PMID:Clough et al. 1999:10571942}" "" "c.465_466insGAAT" "" "Unknown" "yes" "" "0" "" "" "g.126690974_126690975insGAAT" "" "pathogenic" "" "0000018186" "1" "95" "9" "129453272" "129453272" "subst" "0" "00081" "LMX1B_000089" "g.129453272C>T" "" "{PMID:Clough et al. 1999:10571942}" "" "c.484C>T" "" "Unknown" "yes" "" "0" "" "" "g.126690993C>T" "" "pathogenic" "" "0000018187" "1" "95" "9" "129451431" "129455536" "del" "0" "00081" "LMX1B_000070" "g.129451431_129455536del" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.491-1848_672+3del" "Loss of exon 4, frameshift, premature termination codon\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "yes" "" "0" "" "" "g.126689152_126693257del" "" "pathogenic" "" "0000018188" "1" "95" "9" "129453283" "129453283" "subst" "0" "00081" "LMX1B_000090" "g.129453283C>G" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.495C>G" "" "Unknown" "yes" "" "0" "" "" "g.126691004C>G" "" "pathogenic" "" "0000018189" "1" "95" "9" "129453295" "129453295" "subst" "0" "00081" "LMX1B_000091" "g.129453295C>A" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.507C>A" "" "Unknown" "yes" "" "0" "" "" "g.126691016C>A" "" "pathogenic" "" "0000018190" "1" "95" "9" "129453342" "129453343" "ins" "0" "00081" "LMX1B_000093" "g.129453342_129453343insACTCCGGT" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.554_555insACTCCGGT" "" "Unknown" "yes" "" "0" "" "" "g.126691063_126691064insACTCCGGT" "" "pathogenic" "" "0000018191" "1" "95" "9" "129455464" "129455464" "del" "0" "00081" "LMX1B_000094" "g.129455464del" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.603delG" "" "Unknown" "yes" "" "0" "" "" "g.126693185del" "" "pathogenic" "" "0000018192" "1" "95" "9" "129455483" "129455485" "delins" "0" "00081" "LMX1B_000095" "g.129455483_129455485delinsA" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.622_624delinsA" "" "Unknown" "yes" "" "0" "" "" "g.126693204_126693206delinsA" "" "pathogenic" "" "0000018193" "1" "95" "9" "129455502" "129455502" "del" "0" "00081" "LMX1B_000096" "g.129455502del" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.640delA" "" "Unknown" "yes" "" "0" "" "" "g.126693223del" "" "pathogenic" "" "0000018194" "1" "95" "9" "129455522" "129455522" "subst" "0" "00081" "LMX1B_000097" "g.129455522C>T" "" "{PMID:Dreyer et al. 1998:9590287}" "" "c.661C>T" "" "Unknown" "yes" "" "0" "" "" "g.126693243C>T" "" "pathogenic" "" "0000018195" "1" "95" "9" "129455522" "129455522" "del" "0" "00081" "LMX1B_000098" "g.129455522del" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.661delC" "" "Unknown" "yes" "" "0" "" "" "g.126693243del" "" "pathogenic" "" "0000018196" "1" "95" "9" "129455524" "129455524" "dup" "0" "00081" "LMX1B_000099" "g.129455524dup" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.663_664insA" "" "Unknown" "yes" "" "0" "" "" "g.126693245dup" "" "pathogenic" "" "0000018197" "1" "95" "9" "129455529" "129455529" "subst" "0" "00081" "LMX1B_000100" "g.129455529G>A" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.668G>A" "" "Unknown" "yes" "" "0" "" "" "g.126693250G>A" "" "pathogenic" "" "0000018198" "1" "95" "9" "129455533" "129455533" "dup" "0" "00081" "LMX1B_000102" "g.129455533dup" "" "{PMID:Bongers et al. 2005:15928687}" "" "c.672_673insC" "" "Unknown" "yes" "" "0" "" "" "g.126693254dup" "" "pathogenic" "" "0000018199" "1" "95" "9" "129455533" "129455533" "dup" "0" "00081" "LMX1B_000101" "g.129455533dup" "" "{PMID:Bongers et al. 2005:15928687}" "" "c.672dupC" "" "Unknown" "yes" "" "0" "" "" "g.126693254dup" "" "pathogenic" "" "0000018200" "1" "95" "9" "129455537" "129455542" "del" "0" "00081" "LMX1B_000103" "g.129455537_129455542del" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.675_680del" "" "Unknown" "yes" "" "0" "" "" "g.126693258_126693263del" "" "pathogenic" "" "0000018201" "1" "95" "9" "129455541" "129455547" "del" "0" "00081" "LMX1B_000104" "g.129455541_129455547del" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.680_686del" "" "Unknown" "yes" "" "0" "" "" "g.126693262_126693268del" "" "pathogenic" "" "0000018202" "1" "95" "9" "129455552" "129455552" "subst" "0" "00081" "LMX1B_000105" "g.129455552C>T" "" "{PMID:Vollrath et al. 1998:9618165}" "" "c.691C>T" "" "Unknown" "yes" "" "0" "" "" "g.126693273C>T" "" "pathogenic" "" "0000018203" "1" "95" "9" "129455567" "129455567" "subst" "0" "00081" "LMX1B_000106" "g.129455567G>C" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.706G>C" "" "Unknown" "yes" "" "0" "" "" "g.126693288G>C" "" "pathogenic" "" "0000018204" "1" "95" "9" "129455576" "129455576" "subst" "0" "00081" "LMX1B_000107" "g.129455576G>T" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.715G>T" "" "Unknown" "yes" "" "0" "" "" "g.126693297G>T" "" "pathogenic" "" "0000018205" "1" "95" "9" "129455581" "129455583" "del" "0" "00081" "LMX1B_000108" "g.129455581_129455583del" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.720_722del" "" "Unknown" "yes" "" "0" "" "" "g.126693302_126693304del" "" "pathogenic" "" "0000018206" "1" "95" "9" "129455582" "129455582" "subst" "0" "00081" "LMX1B_000109" "g.129455582T>C" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.721T>C" "" "Unknown" "yes" "" "0" "" "" "g.126693303T>C" "" "pathogenic" "" "0000018207" "1" "95" "9" "129455583" "129455583" "subst" "0" "00081" "LMX1B_000110" "g.129455583C>A" "" "{PMID:Clough et al. 1999:10571942}" "" "c.722C>A" "" "Unknown" "yes" "" "0" "" "" "g.126693304C>A" "" "pathogenic" "" "0000018208" "1" "95" "9" "129455586" "129455586" "subst" "0" "00081" "LMX1B_000111" "g.129455586C>A" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.725C>A" "" "Unknown" "yes" "" "0" "" "" "g.126693307C>A" "" "pathogenic" "" "0000018209" "1" "95" "9" "129455589" "129455589" "del" "0" "00081" "LMX1B_000112" "g.129455589del" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.728delA" "" "Unknown" "yes" "" "0" "" "" "g.126693310del" "" "pathogenic" "" "0000018210" "1" "95" "9" "129455596" "129455597" "delins" "0" "00081" "LMX1B_000113" "g.129455596_129455597delinsAA" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.735_736delCCinsAA" "" "Unknown" "yes" "" "0" "" "" "g.126693317_126693318delinsAA" "" "pathogenic" "" "0000018211" "1" "95" "9" "129455597" "129455597" "subst" "0" "00081" "LMX1B_000114" "g.129455597C>T" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.736C>T" "" "Unknown" "yes" "" "0" "" "" "g.126693318C>T" "" "pathogenic" "" "0000018212" "1" "95" "9" "129455603" "129455603" "subst" "0" "00081" "LMX1B_000115" "g.129455603G>A" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.741+1G>A" "Splice site mutation" "Unknown" "yes" "" "0" "" "" "g.126693324G>A" "" "pathogenic" "" "0000018213" "1" "95" "9" "129455603" "129455603" "subst" "0" "00081" "LMX1B_000116" "g.129455603G>C" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.741+1G>C" "Splice site mutation" "Unknown" "yes" "" "0" "" "" "g.126693324G>C" "" "pathogenic" "" "0000018214" "1" "95" "9" "129455603" "129455603" "subst" "0" "00081" "LMX1B_000136" "g.129455603G>T" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.741+1G>T" "Splice site mutation" "Unknown" "yes" "" "0" "" "" "g.126693324G>T" "" "pathogenic" "" "0000018215" "1" "95" "9" "129455604" "129455604" "subst" "0" "00081" "LMX1B_000138" "g.129455604T>A" "" "{PMID:Clough et al. 1999:10571942}" "" "c.741+2T>A" "Splice site mutation" "Unknown" "yes" "" "0" "" "" "g.126693325T>A" "" "pathogenic" "" "0000018216" "1" "95" "9" "129455804" "129455847" "del" "0" "00081" "LMX1B_000056" "g.129455804_129455847del" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.742_785del" "" "Unknown" "yes" "" "0" "" "" "g.126693525_126693568del" "" "pathogenic" "" "0000018217" "1" "95" "9" "129455802" "129455802" "subst" "0" "00081" "LMX1B_000054" "g.129455802G>A" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.742-1G>A" "Splice site mutation" "Unknown" "yes" "" "0" "" "" "g.126693523G>A" "" "pathogenic" "" "0000018218" "1" "95" "9" "129455802" "129455802" "subst" "0" "00081" "LMX1B_000055" "g.129455802G>C" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.742-1G>C" "Splice site mutation" "Unknown" "yes" "" "0" "" "" "g.126693523G>C" "" "pathogenic" "" "0000018219" "1" "95" "9" "129455801" "129455801" "subst" "0" "00081" "LMX1B_000053" "g.129455801A>G" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.742-2A>G" "Splice site mutation" "Unknown" "yes" "" "0" "" "" "g.126693522A>G" "" "pathogenic" "" "0000018220" "1" "95" "9" "129455806" "129455806" "dup" "0" "00081" "LMX1B_000059" "g.129455806dup" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.745_746insC" "" "Unknown" "yes" "" "0" "" "" "g.126693527dup" "" "pathogenic" "" "0000018221" "1" "95" "9" "129455806" "129455806" "subst" "0" "00081" "LMX1B_000057" "g.129455806C>G" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.745C>G" "" "Unknown" "yes" "" "0" "" "" "g.126693527C>G" "" "pathogenic" "" "0000018222" "1" "95" "9" "129455806" "129455806" "subst" "0" "00081" "LMX1B_000057" "g.129455806C>G" "" "{PMID:Bongers et al. 2005:15928687}" "" "c.745C>G" "" "Unknown" "yes" "" "0" "" "" "g.126693527C>G" "" "pathogenic" "" "0000018223" "1" "95" "9" "129455806" "129455806" "subst" "4.06339E-6" "00081" "LMX1B_000058" "g.129455806C>T" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.745C>T" "" "Unknown" "yes" "" "0" "" "" "g.126693527C>T" "" "pathogenic" "" "0000018224" "1" "95" "9" "129455807" "129455807" "subst" "0" "00081" "LMX1B_000060" "g.129455807G>C" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.746G>C" "" "Unknown" "yes" "" "0" "" "" "g.126693528G>C" "" "pathogenic" "" "0000018225" "1" "95" "9" "129455816" "129455816" "subst" "0" "00081" "LMX1B_000061" "g.129455816T>C" "" "{PMID:Clough et al. 1999:10571942}" "" "c.755T>C" "" "Unknown" "yes" "" "0" "" "" "g.126693537T>C" "" "pathogenic" "" "0000018226" "1" "95" "9" "129455819" "129455819" "subst" "0" "00081" "LMX1B_000062" "g.129455819C>T" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.758C>T" "" "Unknown" "yes" "" "0" "" "" "g.126693540C>T" "" "pathogenic" "" "0000018227" "1" "95" "9" "129455825" "129455841" "del" "0" "00081" "LMX1B_000063" "g.129455825_129455841del" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.763_779del" "" "Unknown" "yes" "" "0" "" "" "g.126693546_126693562del" "" "pathogenic" "" "0000018228" "1" "95" "9" "129455827" "129455827" "dup" "0" "00081" "LMX1B_000064" "g.129455827dup" "" "{PMID:Dreyer et al. 1998:9590287}" "" "c.766_767insA" "" "Unknown" "yes" "" "0" "" "" "g.126693548dup" "" "pathogenic" "" "0000018229" "1" "95" "9" "129455828" "129455828" "subst" "0" "00081" "LMX1B_000065" "g.129455828C>G" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.767C>G" "" "Unknown" "yes" "" "0" "" "" "g.126693549C>G" "" "pathogenic" "" "0000018230" "1" "95" "9" "129455831" "129455831" "del" "0" "00081" "LMX1B_000028" "g.129455831del" "" "{PMID:Seri et al. 1999:10425280}" "" "c.768delG" "" "Unknown" "yes" "" "0" "" "" "g.126693552del" "" "pathogenic" "" "0000018231" "1" "95" "9" "129455833" "129455833" "subst" "0" "00081" "LMX1B_000029" "g.129455833C>T" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.772C>T" "" "Unknown" "yes" "" "0" "" "" "g.126693554C>T" "" "pathogenic" "" "0000018232" "1" "95" "9" "129455835" "129455836" "del" "0" "00081" "LMX1B_000030" "g.129455835_129455836del" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.774_775delCA" "" "Unknown" "yes" "" "0" "" "" "g.126693556_126693557del" "" "pathogenic" "" "0000018233" "1" "95" "9" "129455836" "129455837" "del" "0" "00081" "LMX1B_000031" "g.129455836_129455837del" "" "{PMID:Seri et al. 1999:10425280}" "" "c.775_776delAG" "" "Unknown" "yes" "" "0" "" "" "g.126693557_126693558del" "" "pathogenic" "" "0000018234" "1" "95" "9" "129455838" "129455838" "del" "0" "00081" "LMX1B_000032" "g.129455838del" "" "{PMID:Clough et al. 1999:10571942}" "" "c.777delT" "" "Unknown" "yes" "" "0" "" "" "g.126693559del" "" "pathogenic" "" "0000018235" "1" "95" "9" "129455842" "129455842" "subst" "0" "00081" "LMX1B_000033" "g.129455842C>T" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.781C>T" "" "Unknown" "yes" "" "0" "" "" "g.126693563C>T" "" "pathogenic" "" "0000018236" "1" "95" "9" "129455849" "129455849" "subst" "0" "00081" "LMX1B_000034" "g.129455849T>A" "" "{PMID:Bongers et al. 2002:12215822}" "" "c.788T>A" "" "Unknown" "yes" "" "0" "" "" "g.126693570T>A" "" "pathogenic" "" "0000018237" "1" "95" "9" "129455849" "129455849" "subst" "0" "00081" "LMX1B_000035" "g.129455849T>C" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.788T>C" "" "Unknown" "yes" "" "0" "" "" "g.126693570T>C" "" "pathogenic" "" "0000018238" "1" "95" "9" "129455851" "129455851" "subst" "0" "00081" "LMX1B_000036" "g.129455851C>T" "" "{PMID:Clough et al. 1999:10571942}" "" "c.790C>T" "" "Unknown" "yes" "" "0" "" "" "g.126693572C>T" "" "pathogenic" "" "0000018239" "1" "95" "9" "129455854" "129455854" "subst" "0" "00081" "LMX1B_000037" "g.129455854G>C" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.793G>C" "" "Unknown" "yes" "" "0" "" "" "g.126693575G>C" "" "pathogenic" "" "0000018240" "1" "95" "9" "129455854" "129455854" "subst" "0" "00081" "LMX1B_000038" "g.129455854G>T" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.793G>T" "" "Unknown" "yes" "" "0" "" "" "g.126693575G>T" "" "pathogenic" "" "0000018241" "1" "95" "9" "129455858" "129455858" "subst" "0" "00081" "LMX1B_000039" "g.129455858G>A" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.797G>A" "" "Unknown" "yes" "" "0" "" "" "g.126693579G>A" "" "pathogenic" "" "0000018242" "1" "95" "9" "129455859" "129455859" "subst" "0" "00081" "LMX1B_000040" "g.129455859G>C" "" "{PMID:Hamlington et al. 2001:11668639}" "" "c.798G>C" "" "Unknown" "yes" "" "0" "" "" "g.126693580G>C" "" "pathogenic" "" "0000018243" "1" "95" "9" "129455860" "129455860" "subst" "0" "00081" "LMX1B_000041" "g.129455860T>A" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.799T>A" "" "Unknown" "yes" "" "0" "" "" "g.126693581T>A" "" "pathogenic" "" "0000018244" "1" "95" "9" "129455860" "129455860" "subst" "0" "00081" "LMX1B_000042" "g.129455860T>C" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.799T>C" "" "Unknown" "yes" "" "0" "" "" "g.126693581T>C" "" "pathogenic" "" "0000018245" "1" "95" "9" "129455863" "129455863" "subst" "0" "00081" "LMX1B_000043" "g.129455863C>G" "" "{PMID:Szczaluba et al. 2005:16085960}" "" "c.802C>G" "" "Unknown" "yes" "" "0" "" "" "g.126693584C>G" "" "pathogenic" "" "0000018246" "1" "95" "9" "129455863" "129455863" "subst" "0" "00081" "LMX1B_000044" "g.129455863C>T" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.802C>T" "" "Unknown" "yes" "" "0" "" "" "g.126693584C>T" "" "pathogenic" "" "0000018247" "1" "95" "9" "129455865" "129455865" "subst" "0" "00081" "LMX1B_000045" "g.129455865G>T" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.804G>T" "" "Unknown" "yes" "" "0" "" "" "g.126693586G>T" "" "pathogenic" "" "0000018248" "10" "95" "9" "129455867" "129455872" "del" "0" "00081" "LMX1B_000046" "g.129455867_129455872del" "" "{PMID:Sato 2005:15774843}, {DOI:Sato 2005:10.1203/01.PDR.0000157674.63621.2C}" "" "" "" "Germline" "yes" "" "0" "" "" "g.126693588_126693593del" "" "pathogenic (dominant)" "" "0000018249" "1" "95" "9" "129455868" "129455868" "subst" "0" "00081" "LMX1B_000047" "g.129455868C>A" "" "{PMID:Dreyer et al. 1998:9590287}" "" "c.807C>A" "" "Unknown" "yes" "" "0" "" "" "g.126693589C>A" "" "pathogenic" "" "0000018250" "1" "95" "9" "129455875" "129455875" "subst" "0" "00081" "LMX1B_000048" "g.129455875G>C" "" "{PMID:Knoers et al. 2000:10966502}" "" "c.814G>C" "" "Unknown" "yes" "" "0" "" "" "g.126693596G>C" "" "pathogenic" "" "0000018251" "1" "95" "9" "129455881" "129455881" "subst" "0" "00081" "LMX1B_000049" "g.129455881G>A" "" "{PMID:McIntosh et al. 1998:9837817}" "" "c.819+1G>A" "Splice site mutation" "Unknown" "yes" "" "0" "" "" "g.126693602G>A" "" "pathogenic" "" "0000018252" "1" "95" "9" "129455882" "129455882" "subst" "0" "00081" "LMX1B_000050" "g.129455882T>G" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.819+2T>G" "Splice site mutation" "Unknown" "yes" "" "0" "" "" "g.126693603T>G" "" "pathogenic" "" "0000018253" "1" "95" "9" "129456024" "129456024" "subst" "0" "00081" "LMX1B_000052" "g.129456024G>A" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.820-1G>A" "Splice site mutation" "Unknown" "yes" "" "0" "" "" "g.126693745G>A" "" "pathogenic" "" "0000018254" "1" "95" "9" "129456023" "129456023" "del" "0" "00081" "LMX1B_000051" "g.129456023del" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.820-2del" "Splice site mutation" "Unknown" "yes" "" "0" "" "" "g.126693744del" "" "pathogenic" "" "0000018255" "1" "95" "9" "129456034" "129456034" "del" "0" "00081" "LMX1B_000066" "g.129456034del" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.829delC" "" "Unknown" "yes" "" "0" "" "" "g.126693755del" "" "pathogenic" "" "0000018256" "1" "95" "9" "129456043" "129456052" "del" "0" "00081" "LMX1B_000067" "g.129456043_129456052del" "" "{PMID:Dunston et al. 2004:15498463}" "" "c.838_847del" "" "Unknown" "yes" "" "0" "" "" "g.126693764_126693773del" "" "pathogenic" "" "0000055810" "0" "70" "9" "129376869" "129376869" "subst" "0" "01217" "LMX1B_000161" "g.129376869T>C" "" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "" "" "Germline" "yes" "" "0" "" "" "g.126614590T>C" "" "likely pathogenic" "" "0000055811" "1" "70" "9" "129377747" "129377747" "dup" "0" "01217" "LMX1B_000158" "g.129377747dup" "" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "225dupC" "" "Germline" "yes" "" "0" "" "" "g.126615468dup" "" "likely pathogenic" "" "0000055812" "0" "70" "9" "129377752" "129377753" "ins" "0" "01217" "LMX1B_000162" "g.129377752_129377753insGAGGATGGCA" "" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "" "" "Unknown" "" "" "0" "" "" "g.126615473_126615474insGAGGATGGCA" "" "likely pathogenic" "" "0000055813" "0" "70" "9" "129377834" "129377834" "dup" "0" "01217" "LMX1B_000146" "g.129377834dup" "" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "" "" "Germline" "" "" "0" "" "" "g.126615555dup" "" "likely pathogenic" "" "0000055825" "0" "70" "9" "129377835" "129377835" "subst" "0" "01217" "LMX1B_000149" "g.129377835C>T" "" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "" "" "Germline" "" "" "0" "" "" "g.126615556C>T" "" "likely pathogenic" "" "0000055831" "0" "70" "9" "129377839" "129377839" "subst" "0" "01217" "LMX1B_000148" "g.129377839A>C" "" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "" "" "Germline" "" "" "0" "" "" "g.126615560A>C" "" "likely pathogenic" "" "0000055833" "0" "70" "9" "129453224" "129453224" "subst" "0" "01217" "LMX1B_000150" "g.129453224T>A" "" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "" "" "Germline" "" "" "0" "" "" "g.126690945T>A" "" "likely pathogenic" "" "0000055834" "0" "70" "9" "129377845" "129377848" "dup" "0" "01217" "LMX1B_000151" "g.129377845_129377848dup" "" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000055835" "0" "70" "9" "129455423" "129455423" "subst" "0" "01217" "LMX1B_000152" "g.129455423A>T" "" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "" "" "Germline" "" "" "0" "" "" "g.126693144A>T" "" "likely pathogenic" "" "0000055836" "0" "70" "9" "129455493" "129455493" "del" "0" "01217" "LMX1B_000153" "g.129455493del" "" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "" "" "Germline" "" "" "0" "" "" "g.126693214del" "" "likely pathogenic" "" "0000055837" "0" "70" "9" "129455544" "129455545" "ins" "0" "01217" "LMX1B_000154" "g.129455544_129455545insTCA" "" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "" "" "Germline" "" "" "0" "" "" "g.126693265_126693266insTCA" "" "likely pathogenic" "" "0000055838" "0" "70" "9" "129455562" "129455562" "subst" "0" "01217" "LMX1B_000155" "g.129455562T>C" "" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "" "" "Germline" "" "" "0" "" "" "g.126693283T>C" "" "likely pathogenic" "" "0000055839" "0" "70" "9" "129455574" "129455574" "subst" "0" "01217" "LMX1B_000156" "g.129455574T>C" "" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "" "" "Germline" "" "" "0" "" "" "g.126693295T>C" "" "likely pathogenic" "" "0000055840" "0" "70" "9" "129455592" "129455592" "del" "0" "01217" "LMX1B_000157" "g.129455592del" "" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "" "" "Germline" "" "" "0" "" "" "g.126693313del" "" "likely pathogenic" "" "0000055841" "0" "70" "9" "129455809" "129455809" "subst" "0" "01217" "LMX1B_000145" "g.129455809G>A" "" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "" "" "Germline" "" "" "0" "" "" "g.126693530G>A" "" "likely pathogenic" "" "0000055842" "0" "70" "9" "129455855" "129455855" "subst" "0" "01217" "LMX1B_000147" "g.129455855T>C" "" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "" "" "Germline" "" "" "0" "" "" "g.126693576T>C" "" "likely pathogenic" "" "0000055957" "0" "70" "9" "129455879" "129455882" "delins" "0" "01217" "LMX1B_000160" "g.129455879_129455882delinsGGG" "" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "" "" "Germline" "" "" "0" "" "" "g.126693600_126693603delinsGGG" "" "likely pathogenic" "" "0000055958" "0" "70" "9" "" "" "" "" "01217" "LMX1B_000159" "?" "" "{PMID:Ghoumid 2016:25898926}, {DOI:Ghoumid 2016:10.1038/ejhg.2015.77}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000129944" "0" "70" "9" "129453203" "129453205" "delins" "0" "01741" "LMX1B_000163" "g.129453203_129453205delinsAA" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.126690924_126690926delinsAA" "" "likely pathogenic" "" "0000222847" "0" "90" "9" "129455474" "129455474" "subst" "0" "01741" "LMX1B_000164" "g.129455474C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.126693195C>T" "" "pathogenic" "" "0000222848" "0" "70" "9" "129377761" "129377761" "subst" "0" "01741" "LMX1B_000165" "g.129377761G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.126615482G>A" "" "likely pathogenic" "" "0000248609" "0" "10" "9" "129453229" "129453229" "subst" "0.443679" "02325" "LMX1B_000167" "g.129453229A>G" "" "" "" "LMX1B(NM_001174146.2):c.441A>G (p.E147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126690950A>G" "" "benign" "" "0000251436" "0" "10" "9" "129455393" "129455393" "subst" "0.00455331" "02326" "LMX1B_000169" "g.129455393A>C" "" "" "" "LMX1B(NM_001174146.2):c.560-28A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126693114A>C" "" "benign" "" "0000282260" "0" "10" "9" "129377855" "129377855" "subst" "0.302142" "02325" "LMX1B_000166" "g.129377855G>C" "" "" "" "LMX1B(NM_001174146.2):c.326+7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126615576G>C" "" "benign" "" "0000286010" "0" "10" "9" "129458309" "129458309" "subst" "0.0121573" "02326" "LMX1B_000174" "g.129458309G>A" "" "" "" "LMX1B(NM_001174146.2):c.1063+48G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126696030G>A" "" "benign" "" "0000286011" "0" "10" "9" "129453367" "129453367" "subst" "0.00631703" "02326" "LMX1B_000168" "g.129453367G>A" "" "" "" "LMX1B(NM_001174146.2):c.559+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126691088G>A" "" "benign" "" "0000286012" "0" "10" "9" "129455402" "129455402" "subst" "0.00351677" "02326" "LMX1B_000170" "g.129455402C>T" "" "" "" "LMX1B(NM_001174146.2):c.560-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126693123C>T" "" "benign" "" "0000286013" "0" "10" "9" "129455587" "129455587" "subst" "0.434189" "02326" "LMX1B_000171" "g.129455587G>C" "" "" "" "LMX1B(NM_001174146.2):c.726G>C (p.S242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126693308G>C" "" "benign" "" "0000286014" "0" "10" "9" "129456119" "129456119" "subst" "0.00546399" "02326" "LMX1B_000172" "g.129456119G>A" "" "" "" "LMX1B(NM_001174146.1):c.914G>A (p.(Gly305Asp)), LMX1B(NM_001174146.2):c.914G>A (p.G305D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126693840G>A" "" "benign" "" "0000286015" "0" "10" "9" "129458041" "129458041" "subst" "0" "02326" "LMX1B_000173" "g.129458041T>A" "" "" "" "LMX1B(NM_001174146.2):c.920-77T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126695762T>A" "" "benign" "" "0000337121" "0" "90" "9" "129377661" "129377661" "subst" "0" "02327" "LMX1B_000125" "g.129377661G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126615382G>A" "" "pathogenic" "" "0000337122" "0" "90" "9" "129377850" "129377850" "subst" "0" "02327" "LMX1B_000068" "g.129377850T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126615571T>C" "" "pathogenic" "" "0000337123" "0" "10" "9" "129377855" "129377855" "subst" "0.302142" "02327" "LMX1B_000166" "g.129377855G>C" "" "" "" "LMX1B(NM_001174146.2):c.326+7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126615576G>C" "" "benign" "" "0000337125" "0" "90" "9" "129455603" "129455603" "subst" "0" "02327" "LMX1B_000115" "g.129455603G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126693324G>A" "" "pathogenic" "" "0000337126" "0" "90" "9" "129455881" "129455881" "subst" "0" "02327" "LMX1B_000049" "g.129455881G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126693602G>A" "" "pathogenic" "" "0000339383" "0" "10" "9" "129453229" "129453229" "subst" "0.443679" "02327" "LMX1B_000167" "g.129453229A>G" "" "" "" "LMX1B(NM_001174146.2):c.441A>G (p.E147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126690950A>G" "" "benign" "" "0000339384" "0" "10" "9" "129455587" "129455587" "subst" "0.434189" "02327" "LMX1B_000171" "g.129455587G>C" "" "" "" "LMX1B(NM_001174146.2):c.726G>C (p.S242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126693308G>C" "" "benign" "" "0000341268" "0" "70" "9" "129455498" "129455498" "subst" "0" "02327" "LMX1B_000186" "g.129455498G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126693219G>C" "" "likely pathogenic" "" "0000341288" "0" "90" "9" "129455567" "129455567" "subst" "0" "02327" "LMX1B_000106" "g.129455567G>C" "" "" "" "LMX1B(NM_002316.4):c.706G>C (p.A236P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126693288G>C" "" "pathogenic" "" "0000341301" "0" "70" "9" "129455819" "129455819" "subst" "0" "02327" "LMX1B_000188" "g.129455819C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126693540C>A" "" "likely pathogenic" "" "0000341962" "0" "30" "9" "129453239" "129453239" "subst" "0.000130286" "02327" "LMX1B_000183" "g.129453239C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126690960C>T" "" "likely benign" "" "0000342296" "0" "90" "9" "129455522" "129455522" "subst" "0" "02327" "LMX1B_000097" "g.129455522C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126693243C>T" "" "pathogenic" "" "0000342326" "0" "90" "9" "129455552" "129455552" "subst" "0" "02327" "LMX1B_000105" "g.129455552C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126693273C>T" "" "pathogenic" "" "0000342365" "0" "70" "9" "129455843" "129455843" "subst" "4.06207E-6" "02327" "LMX1B_000190" "g.129455843G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126693564G>A" "" "likely pathogenic" "" "0000342498" "0" "70" "9" "129455873" "129455873" "subst" "0" "02327" "LMX1B_000191" "g.129455873G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126693594G>A" "" "likely pathogenic" "" "0000344225" "0" "90" "9" "129377831" "129377831" "subst" "0" "02327" "LMX1B_000180" "g.129377831C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126615552C>G" "" "pathogenic" "" "0000344250" "0" "90" "9" "129453216" "129453216" "subst" "0" "02327" "LMX1B_000083" "g.129453216G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126690937G>A" "" "pathogenic" "" "0000344451" "0" "70" "9" "129377802" "129377802" "subst" "0" "02327" "LMX1B_000178" "g.129377802T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126615523T>C" "" "likely pathogenic" "" "0000344497" "0" "90" "9" "129377844" "129377844" "subst" "0" "02327" "LMX1B_000130" "g.129377844C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126615565C>T" "" "pathogenic" "" "0000344729" "0" "90" "9" "129456049" "129456049" "subst" "0" "02327" "LMX1B_000192" "g.129456049C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126693770C>T" "" "pathogenic" "" "0000344994" "0" "90" "9" "129377781" "129377781" "subst" "0" "02327" "LMX1B_000025" "g.129377781C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126615502C>T" "" "pathogenic" "" "0000345164" "0" "90" "9" "129453266" "129453266" "subst" "0" "02327" "LMX1B_000184" "g.129453266G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126690987G>T" "" "pathogenic" "" "0000345274" "0" "90" "9" "129455576" "129455576" "subst" "0" "02327" "LMX1B_000107" "g.129455576G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126693297G>T" "" "pathogenic" "" "0000347102" "0" "90" "9" "129458164" "129458164" "del" "0" "02327" "LMX1B_000193" "g.129458164del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126695885del" "" "pathogenic" "" "0000349751" "0" "90" "9" "129455859" "129455859" "subst" "0" "02327" "LMX1B_000040" "g.129455859G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126693580G>C" "" "pathogenic" "" "0000349914" "0" "90" "9" "129453194" "129453194" "subst" "0" "02327" "LMX1B_000182" "g.129453194T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126690915T>C" "" "pathogenic" "" "0000350438" "0" "90" "9" "129455855" "129455855" "subst" "0" "02327" "LMX1B_000147" "g.129455855T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126693576T>C" "" "pathogenic" "" "0000350878" "0" "90" "9" "129376868" "129376868" "subst" "0" "02327" "LMX1B_000176" "g.129376868G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126614589G>T" "" "pathogenic" "" "0000447051" "0" "70" "9" "129455532" "129455532" "subst" "0" "01741" "LMX1B_000194" "g.129455532C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.126693253C>T" "" "likely pathogenic" "" "0000536262" "0" "30" "9" "129376726" "129376726" "subst" "0" "02327" "LMX1B_000195" "g.129376726C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126614447C>T" "" "likely benign" "" "0000536263" "0" "30" "9" "129377658" "129377658" "subst" "0.000427148" "02330" "LMX1B_000196" "g.129377658A>G" "" "" "" "LMX1B(NM_001174146.2):c.140-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126615379A>G" "" "likely benign" "" "0000536265" "0" "90" "9" "129377730" "129377730" "subst" "0" "02327" "LMX1B_000141" "g.129377730C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126615451C>T" "" "pathogenic" "" "0000536266" "0" "70" "9" "129377804" "129377804" "subst" "0" "02327" "LMX1B_000118" "g.129377804C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126615525C>G" "" "likely pathogenic" "" "0000536267" "0" "90" "9" "129377838" "129377838" "subst" "0" "02327" "LMX1B_000197" "g.129377838G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126615559G>A" "" "pathogenic" "" "0000536268" "0" "90" "9" "129377849" "129377849" "subst" "0" "02327" "LMX1B_000092" "g.129377849G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126615570G>A" "" "pathogenic" "" "0000536269" "0" "90" "9" "129453113" "129453113" "subst" "0" "02327" "LMX1B_000198" "g.129453113A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126690834A>T" "" "pathogenic" "" "0000536270" "0" "50" "9" "129453191" "129453191" "subst" "8.14266E-6" "01804" "LMX1B_000199" "g.129453191G>A" "" "" "" "LMX1B(NM_001174146.1):c.403G>A (p.(Val135Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126690912G>A" "" "VUS" "" "0000536272" "0" "10" "9" "129453322" "129453322" "subst" "0.00115866" "02330" "LMX1B_000200" "g.129453322C>A" "" "" "" "LMX1B(NM_001174146.2):c.534C>A (p.S178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126691043C>A" "" "benign" "" "0000536273" "0" "90" "9" "129455529" "129455529" "subst" "0" "02327" "LMX1B_000100" "g.129455529G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126693250G>A" "" "pathogenic" "" "0000536274" "0" "90" "9" "129455806" "129455806" "subst" "4.06339E-6" "02327" "LMX1B_000058" "g.129455806C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126693527C>T" "" "pathogenic" "" "0000536275" "0" "70" "9" "129455845" "129455845" "subst" "0" "02327" "LMX1B_000201" "g.129455845G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126693566G>A" "" "likely pathogenic" "" "0000536276" "0" "30" "9" "129456119" "129456119" "subst" "0.00546399" "01804" "LMX1B_000172" "g.129456119G>A" "" "" "" "LMX1B(NM_001174146.1):c.914G>A (p.(Gly305Asp)), LMX1B(NM_001174146.2):c.914G>A (p.G305D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126693840G>A" "" "likely benign" "" "0000611854" "0" "90" "9" "129377769" "129377769" "subst" "0" "02325" "LMX1B_000017" "g.129377769T>C" "" "" "" "LMX1B(NM_001174146.2):c.247T>C (p.C83R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126615490T>C" "" "pathogenic" "" "0000611855" "0" "70" "9" "129455868" "129455868" "subst" "0" "02327" "LMX1B_000047" "g.129455868C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126693589C>A" "" "likely pathogenic" "" "0000622161" "0" "50" "9" "129456129" "129456129" "subst" "0.000420646" "01943" "LMX1B_000202" "g.129456129G>A" "" "" "" "LMX1B(NM_001174146.1):c.919+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126693850G>A" "" "VUS" "" "0000653377" "0" "90" "9" "129455881" "129455881" "subst" "0" "03624" "LMX1B_000049" "g.129455881G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.126693602G>A" "" "pathogenic" "" "0000653378" "0" "90" "9" "129377691" "129377691" "subst" "0" "03624" "LMX1B_000131" "g.129377691G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.126615412G>T" "" "pathogenic" "" "0000653379" "0" "90" "9" "129455529" "129455529" "subst" "0" "03624" "LMX1B_000100" "g.129455529G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.126693250G>A" "" "likely pathogenic" "" "0000653380" "0" "90" "9" "129455854" "129455854" "subst" "0" "03624" "LMX1B_000038" "g.129455854G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.126693575G>T" "" "likely pathogenic" "" "0000653381" "0" "90" "9" "129455854" "129455854" "subst" "0" "03624" "LMX1B_000037" "g.129455854G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.126693575G>C" "" "pathogenic" "" "0000653383" "0" "90" "9" "129455867" "129455872" "del" "0" "03624" "LMX1B_000046" "g.129455867_129455872del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.126693588_126693593del" "" "pathogenic" "" "0000653384" "0" "90" "9" "129455844" "129455844" "dup" "0" "03624" "LMX1B_000203" "g.129455844dup" "" "" "" "783dupC" "" "Germline" "" "" "0" "" "" "g.126693565dup" "" "likely pathogenic (dominant)" "" "0000653493" "0" "90" "9" "129455854" "129455854" "subst" "0" "00006" "LMX1B_000037" "g.129455854G>C" "" "{PMID:Sato 2005:15774843}, {DOI:Sato 2005:10.1203/01.PDR.0000157674.63621.2C}" "" "" "" "De novo" "" "" "0" "" "" "g.126693575G>C" "" "pathogenic (dominant)" "" "0000656220" "0" "90" "9" "129455597" "129455597" "subst" "0" "02327" "LMX1B_000114" "g.129455597C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126693318C>T" "" "pathogenic" "" "0000690404" "0" "30" "9" "129376764" "129376764" "subst" "0" "01804" "LMX1B_000204" "g.129376764G>C" "" "" "" "LMX1B(NM_001174146.1):c.36G>C (p.(Arg12Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690405" "0" "70" "9" "129453231" "129453231" "subst" "0" "02325" "LMX1B_000087" "g.129453231G>C" "" "" "" "LMX1B(NM_002316.4):c.443G>C (p.R148P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690406" "0" "30" "9" "129455410" "129455410" "subst" "0" "02326" "LMX1B_000205" "g.129455410G>T" "" "" "" "LMX1B(NM_001174146.2):c.560-11G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722263" "0" "30" "9" "129377658" "129377658" "subst" "0.000427148" "02326" "LMX1B_000196" "g.129377658A>G" "" "" "" "LMX1B(NM_001174146.2):c.140-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803875" "0" "50" "9" "129377824" "129377824" "subst" "0" "02327" "LMX1B_000206" "g.129377824T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803876" "0" "30" "9" "129453295" "129453295" "subst" "4.48668E-5" "01943" "LMX1B_000207" "g.129453295C>T" "" "" "" "LMX1B(NM_001174146.1):c.507C>T (p.Y169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000847303" "10" "90" "9" "129455801" "129455801" "subst" "0" "00006" "LMX1B_000053" "g.129455801A>G" "" "{PMID:Negrisolo 2018:29973660}" "" "" "variant not inherited from mother" "Germline/De novo (untested)" "" "" "0" "" "" "g.126693522A>G" "" "pathogenic" "" "0000861393" "0" "30" "9" "129453340" "129453340" "subst" "0.00265557" "02326" "LMX1B_000208" "g.129453340C>T" "" "" "" "LMX1B(NM_002316.4):c.552C>T (p.S184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888617" "0" "30" "9" "129376788" "129376788" "subst" "1.30594E-5" "02326" "LMX1B_000209" "g.129376788C>T" "" "" "" "LMX1B(NM_002316.4):c.60C>T (p.D20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888618" "0" "70" "9" "129377778" "129377778" "subst" "0" "02327" "LMX1B_000023" "g.129377778T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888619" "0" "50" "9" "129377827" "129377827" "subst" "0" "02327" "LMX1B_000210" "g.129377827A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888620" "0" "90" "9" "129377847" "129377847" "subst" "0" "02327" "LMX1B_000134" "g.129377847C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888621" "0" "50" "9" "129453346" "129453346" "subst" "0" "01804" "LMX1B_000211" "g.129453346C>T" "" "" "" "LMX1B(NM_001174146.1):c.558C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888622" "0" "10" "9" "129455587" "129455587" "subst" "0.434189" "02329" "LMX1B_000171" "g.129455587G>C" "" "" "" "LMX1B(NM_001174146.2):c.726G>C (p.S242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888623" "0" "30" "9" "129456099" "129456099" "subst" "0.000150015" "02326" "LMX1B_000212" "g.129456099G>A" "" "" "" "LMX1B(NM_002316.4):c.886+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888624" "0" "30" "9" "129458248" "129458248" "subst" "1.25046E-5" "02326" "LMX1B_000213" "g.129458248G>A" "" "" "" "LMX1B(NM_002316.4):c.1017G>A (p.P339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913080" "0" "90" "9" "129377660" "129377660" "subst" "0" "02327" "LMX1B_000123" "g.129377660A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913081" "0" "90" "9" "129453204" "129453204" "del" "0" "02327" "LMX1B_000214" "g.129453204del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913082" "0" "30" "9" "129458673" "129458673" "subst" "0.00029655" "02326" "LMX1B_000215" "g.129458673C>T" "" "" "" "LMX1B(NM_002316.4):c.1131C>T (p.R377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924960" "0" "70" "9" "129377830" "129377830" "subst" "0" "02325" "LMX1B_000216" "g.129377830G>A" "" "" "" "LMX1B(NM_002316.4):c.308G>A (p.C103Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000939848" "1" "70" "9" "129455806" "129455806" "subst" "0" "00006" "LMX1B_000057" "g.129455806C>G" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.126693527C>G" "" "likely pathogenic (dominant)" "" "0000949186" "0" "50" "9" "129377710" "129377710" "subst" "0" "02327" "LMX1B_000217" "g.129377710T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949187" "0" "50" "9" "129377761" "129377761" "subst" "0" "02327" "LMX1B_000165" "g.129377761G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965174" "0" "50" "9" "129376756" "129376757" "delins" "0" "02327" "LMX1B_000218" "g.129376756_129376757delinsAA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965175" "0" "30" "9" "129458301" "129458301" "subst" "0.0732936" "02330" "LMX1B_000219" "g.129458301A>C" "" "" "" "LMX1B(NM_001174146.2):c.1063+40A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978395" "0" "50" "9" "129455806" "129455806" "subst" "0" "01804" "LMX1B_000220" "g.129455806C>A" "" "" "" "LMX1B(NM_001174147.2):c.745C>A (p.(Arg249=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978396" "0" "30" "9" "129456101" "129456102" "dup" "0" "01804" "LMX1B_000221" "g.129456101_129456102dup" "" "" "" "LMX1B(NM_001174146.2):c.896_897dup (p.(Pro300GlyfsTer18))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978397" "0" "30" "9" "129458222" "129458222" "subst" "2.47999E-5" "01804" "LMX1B_000222" "g.129458222G>A" "" "" "" "LMX1B(NM_001174147.2):c.991G>A (p.(Asp331Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987546" "0" "90" "9" "129455546" "129455546" "subst" "0" "01741" "LMX1B_000223" "g.129455546C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.126693267C>T" "" "pathogenic" "" "0001014498" "0" "30" "9" "129455489" "129455489" "subst" "0.000183136" "02326" "LMX1B_000224" "g.129455489G>A" "" "" "" "LMX1B(NM_002316.4):c.628G>A (p.G210R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001019102" "0" "50" "9" "129376503" "129376503" "subst" "0" "03779" "LMX1B_000225" "g.129376503G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001021204" "0" "90" "9" "129376786" "129376828" "dup" "0" "01741" "LMX1B_000226" "g.129376786_129376828dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.126614507_126614549dup" "" "pathogenic" "ACMG" "0001037181" "0" "90" "9" "129455567" "129455567" "subst" "0" "02325" "LMX1B_000106" "g.129455567G>C" "" "" "" "LMX1B(NM_002316.4):c.706G>C (p.A236P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001037182" "0" "30" "9" "129456098" "129456098" "subst" "0" "01804" "LMX1B_000227" "g.129456098C>T" "" "" "" "LMX1B(NM_001174146.2):c.893C>T (p.(Pro298Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037183" "0" "30" "9" "129456132" "129456132" "subst" "0" "01804" "LMX1B_000228" "g.129456132G>A" "" "" "" "LMX1B(NM_001174146.2):c.919+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037184" "0" "30" "9" "129458289" "129458289" "subst" "2.42373E-5" "01804" "LMX1B_000229" "g.129458289C>T" "" "" "" "LMX1B(NM_001174147.2):c.1051+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046176" "0" "90" "9" "129455876" "129455876" "dup" "0" "02327" "LMX1B_000230" "g.129455876dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001053344" "0" "50" "9" "129456083" "129456083" "subst" "2.2972E-5" "01804" "LMX1B_000231" "g.129456083T>G" "" "" "" "LMX1B(NM_001174147.2):c.878T>G (p.(Leu293Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053345" "0" "50" "9" "129458189" "129458189" "subst" "4.5399E-5" "01804" "LMX1B_000232" "g.129458189G>A" "" "" "" "LMX1B(NM_001174147.2):c.958G>A (p.(Val320Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059702" "0" "70" "9" "129455529" "129455529" "subst" "0" "00006" "LMX1B_000100" "g.129455529G>A" "" "{PMID:Jacob 2025:39706863}" "" "" "" "De novo" "" "" "0" "" "" "g.126693250G>A" "SCV002053771.1" "likely pathogenic (dominant)" "" ## 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 LMX1B ## Count = 763 "{{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}}" "0000018070" "00023818" "55" "235" "0" "235" "0" "c.235G>T" "r.(?)" "p.(Glu79*)" "2" "0000018070" "00023819" "55" "235" "0" "235" "0" "c.235G>T" "r.(?)" "p.(Glu79*)" "2" "0000018070" "00011459" "55" "235" "0" "235" "0" "c.235G>T" "r.(?)" "p.(Glu79*)" "2" "0000018071" "00023818" "55" "238" "0" "238" "0" "c.238T>A" "r.(?)" "p.(Cys80Ser)" "N/A" "0000018071" "00023819" "55" "238" "0" "238" "0" "c.238T>A" "r.(?)" "p.(Cys80Ser)" "N/A" "0000018071" "00011459" "55" "238" "0" "238" "0" "c.238T>A" "r.(?)" "p.(Cys80Ser)" "N/A" "0000018072" "00023818" "57" "140" "-37" "140" "-20" "c.140-37_140-20del" "r.(=)" "p.(=)" "2" "0000018072" "00023819" "55" "140" "-37" "140" "-20" "c.140-37_140-20del" "r.(=)" "p.(=)" "2" "0000018072" "00011459" "55" "140" "-37" "140" "-20" "c.140-37_140-20del" "r.(=)" "p.(=)" "2" "0000018113" "00023818" "95" "113" "0" "114" "0" "c.113_114delinsT" "r.(?)" "p.(Gly38Valfs*31)" "1" "0000018113" "00023819" "55" "113" "0" "114" "0" "c.113_114delinsT" "r.(?)" "p.(Gly38Valfs*31)" "" "0000018113" "00011459" "55" "113" "0" "114" "0" "c.113_114delinsT" "r.(?)" "p.(Gly38Valfs*31)" "" "0000018114" "00023818" "95" "140" "-1" "140" "-1" "c.140-1G>A" "r.spl" "p.?" "1i" "0000018114" "00023819" "55" "140" "-1" "140" "-1" "c.140-1G>A" "r.(=)" "p.(=)" "" "0000018114" "00011459" "55" "140" "-1" "140" "-1" "c.140-1G>A" "r.spl?" "p.?" "" "0000018115" "00023818" "95" "140" "-2" "140" "-2" "c.140-2A>G" "r.spl" "p.?" "1i" "0000018115" "00023819" "55" "140" "-2" "140" "-2" "c.140-2A>G" "r.(=)" "p.(=)" "" "0000018115" "00011459" "55" "140" "-2" "140" "-2" "c.140-2A>G" "r.spl?" "p.?" "" "0000018116" "00023818" "95" "155" "0" "181" "0" "c.155_181del" "r.(?)" "p.(His52_Gln60del)" "2" "0000018116" "00023819" "55" "155" "0" "181" "0" "c.155_181del" "r.(?)" "p.(His52_Gln60del)" "" "0000018116" "00011459" "55" "155" "0" "181" "0" "c.155_181del" "r.(?)" "p.(His52_Gln60del)" "" "0000018117" "00023818" "95" "166" "0" "166" "0" "c.166T>A" "r.(?)" "p.(Cys56Ser)" "2" "0000018117" "00023819" "55" "166" "0" "166" "0" "c.166T>A" "r.(?)" "p.(Cys56Ser)" "" "0000018117" "00011459" "55" "166" "0" "166" "0" "c.166T>A" "r.(?)" "p.(Cys56Ser)" "" "0000018118" "00023818" "95" "169" "0" "169" "0" "c.169G>T" "r.(?)" "p.(Glu57*)" "2" "0000018118" "00023819" "55" "169" "0" "169" "0" "c.169G>T" "r.(?)" "p.(Glu57*)" "" "0000018118" "00011459" "55" "169" "0" "169" "0" "c.169G>T" "r.(?)" "p.(Glu57*)" "" "0000018119" "00023818" "95" "175" "0" "175" "0" "c.175T>C" "r.(?)" "p.(Cys59Arg)" "2" "0000018119" "00023819" "55" "175" "0" "175" "0" "c.175T>C" "r.(?)" "p.(Cys59Arg)" "" "0000018119" "00011459" "55" "175" "0" "175" "0" "c.175T>C" "r.(?)" "p.(Cys59Arg)" "" "0000018120" "00023818" "95" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Cys59Tyr)" "2" "0000018120" "00023819" "55" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Cys59Tyr)" "" "0000018120" "00011459" "55" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Cys59Tyr)" "" "0000018121" "00023818" "95" "176" "0" "176" "0" "c.176G>C" "r.(?)" "p.(Cys59Ser)" "2" "0000018121" "00023819" "55" "176" "0" "176" "0" "c.176G>C" "r.(?)" "p.(Cys59Ser)" "" "0000018121" "00011459" "55" "176" "0" "176" "0" "c.176G>C" "r.(?)" "p.(Cys59Ser)" "" "0000018122" "00023818" "95" "177" "0" "177" "0" "c.177C>A" "r.(?)" "p.(Cys59*)" "2" "0000018122" "00023819" "55" "177" "0" "177" "0" "c.177C>A" "r.(?)" "p.(Cys59*)" "" "0000018122" "00011459" "55" "177" "0" "177" "0" "c.177C>A" "r.(?)" "p.(Cys59*)" "" "0000018123" "00023818" "95" "186" "0" "186" "0" "c.186del" "r.(?)" "p.(Ile63Serfs*6)" "2" "0000018123" "00023819" "55" "186" "0" "186" "0" "c.186del" "r.(?)" "p.(Ile63Serfs*6)" "" "0000018123" "00011459" "55" "186" "0" "186" "0" "c.186del" "r.(?)" "p.(Ile63Serfs*6)" "" "0000018124" "00023818" "95" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000018124" "00023819" "55" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "" "0000018124" "00011459" "55" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "" "0000018125" "00023818" "95" "214" "0" "321" "0" "c.214_321del" "r.(?)" "p.(Asn72_Tyr107del)" "2" "0000018125" "00023819" "55" "214" "0" "321" "0" "c.214_321del" "r.(?)" "p.(Asn72_Tyr107del)" "" "0000018125" "00011459" "55" "214" "0" "321" "0" "c.214_321del" "r.(?)" "p.(Asn72_Tyr107del)" "" "0000018126" "00023818" "95" "221" "0" "221" "0" "c.221C>A" "r.(?)" "p.(Ser74*)" "2" "0000018126" "00023819" "55" "221" "0" "221" "0" "c.221C>A" "r.(?)" "p.(Ser74*)" "" "0000018126" "00011459" "55" "221" "0" "221" "0" "c.221C>A" "r.(?)" "p.(Ser74*)" "" "0000018127" "00023818" "95" "223" "0" "231" "0" "c.223_231del" "r.(?)" "p.(Ser75_His77del)" "2" "0000018127" "00023819" "55" "223" "0" "231" "0" "c.223_231del" "r.(?)" "p.(Ser75_His77del)" "" "0000018127" "00011459" "55" "223" "0" "231" "0" "c.223_231del" "r.(?)" "p.(Ser75_His77del)" "" "0000018128" "00023818" "95" "226" "0" "226" "0" "c.226T>C" "r.(?)" "p.(Trp76Arg)" "2" "0000018128" "00023819" "55" "226" "0" "226" "0" "c.226T>C" "r.(?)" "p.(Trp76Arg)" "" "0000018128" "00011459" "55" "226" "0" "226" "0" "c.226T>C" "r.(?)" "p.(Trp76Arg)" "" "0000018129" "00023818" "95" "227" "0" "227" "0" "c.227G>A" "r.(?)" "p.(Trp76*)" "2" "0000018129" "00023819" "55" "227" "0" "227" "0" "c.227G>A" "r.(?)" "p.(Trp76*)" "" "0000018129" "00011459" "55" "227" "0" "227" "0" "c.227G>A" "r.(?)" "p.(Trp76*)" "" "0000018130" "00023818" "95" "228" "0" "228" "0" "c.228G>A" "r.(?)" "p.(Trp76*)" "2" "0000018130" "00023819" "55" "228" "0" "228" "0" "c.228G>A" "r.(?)" "p.(Trp76*)" "" "0000018130" "00011459" "55" "228" "0" "228" "0" "c.228G>A" "r.(?)" "p.(Trp76*)" "" "0000018131" "00023818" "95" "229" "0" "229" "0" "c.229C>A" "r.(?)" "p.(His77Asn)" "2" "0000018131" "00023819" "55" "229" "0" "229" "0" "c.229C>A" "r.(?)" "p.(His77Asn)" "" "0000018131" "00011459" "55" "229" "0" "229" "0" "c.229C>A" "r.(?)" "p.(His77Asn)" "" "0000018132" "00023818" "95" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(His77Tyr)" "2" "0000018132" "00023819" "55" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(His77Tyr)" "" "0000018132" "00011459" "55" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(His77Tyr)" "" "0000018133" "00023818" "95" "230" "0" "230" "0" "c.230A>T" "r.(?)" "p.(His77Leu)" "2" "0000018133" "00023819" "55" "230" "0" "230" "0" "c.230A>T" "r.(?)" "p.(His77Leu)" "" "0000018133" "00011459" "55" "230" "0" "230" "0" "c.230A>T" "r.(?)" "p.(His77Leu)" "" "0000018134" "00023818" "95" "231" "0" "231" "0" "c.231C>G" "r.(?)" "p.(His77Gln)" "2" "0000018134" "00023819" "55" "231" "0" "231" "0" "c.231C>G" "r.(?)" "p.(His77Gln)" "" "0000018134" "00011459" "55" "231" "0" "231" "0" "c.231C>G" "r.(?)" "p.(His77Gln)" "" "0000018135" "00023818" "95" "232" "0" "232" "0" "c.232G>T" "r.(?)" "p.(Glu78*)" "2" "0000018135" "00023819" "55" "232" "0" "232" "0" "c.232G>T" "r.(?)" "p.(Glu78*)" "" "0000018135" "00011459" "55" "232" "0" "232" "0" "c.232G>T" "r.(?)" "p.(Glu78*)" "" "0000018136" "00023818" "95" "238" "0" "238" "0" "c.238T>C" "r.(?)" "p.(Cys80Arg)" "2" "0000018136" "00023819" "55" "238" "0" "238" "0" "c.238T>C" "r.(?)" "p.(Cys80Arg)" "" "0000018136" "00011459" "55" "238" "0" "238" "0" "c.238T>C" "r.(?)" "p.(Cys80Arg)" "" "0000018137" "00023818" "95" "239" "0" "239" "0" "c.239delinsAA" "r.(?)" "p.(Cys80*)" "2" "0000018137" "00023819" "55" "239" "0" "239" "0" "c.239delinsAA" "r.(?)" "p.(Cys80*)" "" "0000018137" "00011459" "55" "239" "0" "239" "0" "c.239delinsAA" "r.(?)" "p.(Cys80*)" "" "0000018138" "00023818" "95" "242" "0" "242" "0" "c.242T>G" "r.(?)" "p.(Leu81Trp)" "2" "0000018138" "00023819" "55" "242" "0" "242" "0" "c.242T>G" "r.(?)" "p.(Leu81Trp)" "" "0000018138" "00011459" "55" "242" "0" "242" "0" "c.242T>G" "r.(?)" "p.(Leu81Trp)" "" "0000018139" "00023818" "95" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Gln82*)" "2" "0000018139" "00023819" "55" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Gln82*)" "" "0000018139" "00011459" "55" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Gln82*)" "" "0000018140" "00023818" "95" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Cys83Arg)" "2" "0000018140" "00023819" "55" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Cys83Arg)" "" "0000018140" "00011459" "55" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Cys83Arg)" "" "0000018141" "00023818" "95" "247" "0" "247" "0" "c.247T>G" "r.(?)" "p.(Cys83Gly)" "2" "0000018141" "00023819" "55" "247" "0" "247" "0" "c.247T>G" "r.(?)" "p.(Cys83Gly)" "" "0000018141" "00011459" "55" "247" "0" "247" "0" "c.247T>G" "r.(?)" "p.(Cys83Gly)" "" "0000018142" "00023818" "95" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Cys83Tyr)" "2" "0000018142" "00023819" "55" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Cys83Tyr)" "" "0000018142" "00011459" "55" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Cys83Tyr)" "" "0000018143" "00023818" "95" "248" "0" "248" "0" "c.248G>T" "r.(?)" "p.(Cys83Phe)" "2" "0000018143" "00023819" "55" "248" "0" "248" "0" "c.248G>T" "r.(?)" "p.(Cys83Phe)" "" "0000018143" "00011459" "55" "248" "0" "248" "0" "c.248G>T" "r.(?)" "p.(Cys83Phe)" "" "0000018144" "00023818" "95" "259" "0" "304" "0" "c.259_304del" "r.(?)" "p.(Gln87Thrfs*27)" "2" "0000018144" "00023819" "55" "259" "0" "304" "0" "c.259_304del" "r.(?)" "p.(Gln87Thrfs*27)" "" "0000018144" "00011459" "55" "259" "0" "304" "0" "c.259_304del" "r.(?)" "p.(Gln87Thrfs*27)" "" "0000018145" "00023818" "95" "256" "0" "256" "0" "c.256dup" "r.(?)" "p.(Cys86Leufs*62)" "2" "0000018145" "00023819" "55" "256" "0" "256" "0" "c.256dup" "r.(?)" "p.(Cys86Leufs*62)" "" "0000018145" "00011459" "55" "256" "0" "256" "0" "c.256dup" "r.(?)" "p.(Cys86Leufs*62)" "" "0000018146" "00023818" "95" "256" "0" "256" "0" "c.256T>C" "r.(?)" "p.(Cys86Arg)" "2" "0000018146" "00023819" "55" "256" "0" "256" "0" "c.256T>C" "r.(?)" "p.(Cys86Arg)" "" "0000018146" "00011459" "55" "256" "0" "256" "0" "c.256T>C" "r.(?)" "p.(Cys86Arg)" "" "0000018147" "00023818" "95" "256" "0" "256" "0" "c.256T>G" "r.(?)" "p.(Cys86Gly)" "2" "0000018147" "00023819" "55" "256" "0" "256" "0" "c.256T>G" "r.(?)" "p.(Cys86Gly)" "" "0000018147" "00011459" "55" "256" "0" "256" "0" "c.256T>G" "r.(?)" "p.(Cys86Gly)" "" "0000018148" "00023818" "95" "256" "0" "256" "0" "c.256T>G" "r.(?)" "p.(Cys86Gly)" "2" "0000018148" "00023819" "55" "256" "0" "256" "0" "c.256T>G" "r.(?)" "p.(Cys86Gly)" "" "0000018148" "00011459" "55" "256" "0" "256" "0" "c.256T>G" "r.(?)" "p.(Cys86Gly)" "" "0000018149" "00023818" "95" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Gln87*)" "2" "0000018149" "00023819" "55" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Gln87*)" "" "0000018149" "00011459" "55" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Gln87*)" "" "0000018150" "00023818" "95" "269" "0" "270" "0" "c.269_270dup" "r.(?)" "p.(Leu90Profs*58)" "2" "0000018150" "00023819" "55" "269" "0" "270" "0" "c.269_270dup" "r.(?)" "p.(Thr91SerfsTer39)" "" "0000018150" "00011459" "55" "269" "0" "270" "0" "c.269_270dup" "r.(?)" "p.(Thr91SerfsTer39)" "" "0000018151" "00023818" "95" "269" "0" "270" "0" "c.269_270ins57" "r.(?)" "p.?" "2" "0000018151" "00023819" "55" "269" "0" "270" "0" "c.269_270ins57" "" "" "" "0000018151" "00011459" "55" "269" "0" "270" "0" "c.269_270ins57" "" "" "" "0000018152" "00023818" "95" "269" "0" "276" "0" "c.269_276del" "r.(?)" "p.(Leu90Glnfs*55)" "2" "0000018152" "00023819" "55" "269" "0" "276" "0" "c.269_276del" "r.(?)" "p.(Leu90Glnfs*55)" "" "0000018152" "00011459" "55" "269" "0" "276" "0" "c.269_276del" "r.(?)" "p.(Leu90Glnfs*55)" "" "0000018153" "00023818" "95" "282" "0" "282" "0" "c.282C>G" "r.(?)" "p.(Cys94Trp)" "2" "0000018153" "00023819" "55" "282" "0" "282" "0" "c.282C>G" "r.(?)" "p.(Cys94Trp)" "" "0000018153" "00011459" "55" "282" "0" "282" "0" "c.282C>G" "r.(?)" "p.(Cys94Trp)" "" "0000018154" "00023818" "95" "303" "0" "304" "0" "c.303_304del" "r.(?)" "p.(Tyr102Leufs*45)" "2" "0000018154" "00023819" "55" "303" "0" "304" "0" "c.303_304del" "r.(?)" "p.(Tyr102Leufs*45)" "" "0000018154" "00011459" "55" "303" "0" "304" "0" "c.303_304del" "r.(?)" "p.(Tyr102Leufs*45)" "" "0000018155" "00023818" "95" "308" "0" "308" "0" "c.308G>C" "r.(?)" "p.(Cys103Ser)" "2" "0000018155" "00023819" "55" "308" "0" "308" "0" "c.308G>C" "r.(?)" "p.(Cys103Ser)" "" "0000018155" "00011459" "55" "308" "0" "308" "0" "c.308G>C" "r.(?)" "p.(Cys103Ser)" "" "0000018156" "00023818" "95" "312" "0" "312" "0" "c.312del" "r.(?)" "p.(Lys104Asnfs*25)" "2" "0000018156" "00023819" "55" "312" "0" "312" "0" "c.312del" "r.(?)" "p.(Lys104Asnfs*25)" "" "0000018156" "00011459" "55" "312" "0" "312" "0" "c.312del" "r.(?)" "p.(Lys104Asnfs*25)" "" "0000018157" "00023818" "95" "313" "0" "313" "0" "c.313del" "r.(?)" "p.(Gln105Lysfs*24)" "2" "0000018157" "00023819" "55" "313" "0" "313" "0" "c.313del" "r.(?)" "p.(Gln105Lysfs*24)" "" "0000018157" "00011459" "55" "313" "0" "313" "0" "c.313del" "r.(?)" "p.(Gln105Lysfs*24)" "" "0000018158" "00023818" "95" "317" "0" "317" "0" "c.317A>G" "r.(?)" "p.(Asp106Gly)" "2" "0000018158" "00023819" "55" "317" "0" "317" "0" "c.317A>G" "r.(?)" "p.(Asp106Gly)" "" "0000018158" "00011459" "55" "317" "0" "317" "0" "c.317A>G" "r.(?)" "p.(Asp106Gly)" "" "0000018159" "00023818" "95" "320" "0" "320" "0" "c.320del" "r.(?)" "p.(Tyr107Serfs*22)" "2" "0000018159" "00023819" "55" "320" "0" "320" "0" "c.320del" "r.(?)" "p.(Tyr107Serfs*22)" "" "0000018159" "00011459" "55" "320" "0" "320" "0" "c.320del" "r.(?)" "p.(Tyr107Serfs*22)" "" "0000018160" "00023818" "95" "321" "0" "321" "0" "c.321C>G" "r.(?)" "p.(Tyr107*)" "2" "0000018160" "00023819" "55" "321" "0" "321" "0" "c.321C>G" "r.(?)" "p.(Tyr107*)" "" "0000018160" "00011459" "55" "321" "0" "321" "0" "c.321C>G" "r.(?)" "p.(Tyr107*)" "" "0000018161" "00023818" "95" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Gln108*)" "2" "0000018161" "00023819" "55" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Gln108*)" "" "0000018161" "00011459" "55" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Gln108*)" "" "0000018162" "00023818" "95" "322" "0" "322" "0" "c.322del" "r.(?)" "p.(Gln108Asnfs*21)" "2" "0000018162" "00023819" "55" "322" "0" "322" "0" "c.322del" "r.(?)" "p.(Gln108Asnfs*21)" "" "0000018162" "00011459" "55" "322" "0" "322" "0" "c.322del" "r.(?)" "p.(Gln108Asnfs*21)" "" "0000018163" "00023818" "95" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Gln109*)" "2" "0000018163" "00023819" "55" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Gln109*)" "" "0000018163" "00011459" "55" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Gln109*)" "" "0000018164" "00023818" "95" "326" "1" "326" "1" "c.326+1G>A" "r.spl" "p.?" "2i" "0000018164" "00023819" "55" "326" "1" "326" "1" "c.326+1G>A" "r.(=)" "p.(=)" "" "0000018164" "00011459" "55" "326" "1" "326" "1" "c.326+1G>A" "r.spl?" "p.?" "" "0000018165" "00023818" "95" "326" "3" "326" "3" "c.326+3T>C" "r.spl" "p.?" "2i" "0000018165" "00023819" "55" "326" "3" "326" "3" "c.326+3T>C" "" "" "" "0000018165" "00011459" "55" "326" "3" "326" "3" "c.326+3T>C" "" "" "" "0000018166" "00023818" "95" "326" "2" "326" "2" "c.326+2T>C" "r.spl" "p.?" "2i" "0000018166" "00023819" "55" "326" "2" "326" "2" "c.326+2T>C" "r.(=)" "p.(=)" "" "0000018166" "00011459" "55" "326" "2" "326" "2" "c.326+2T>C" "r.spl?" "p.?" "" "0000018167" "00023818" "95" "327" "0" "334" "0" "c.327_334del" "r.(?)" "p.(Gln109Hisfs*36)" "3" "0000018167" "00023819" "55" "327" "0" "334" "0" "c.327_334del" "r.(?)" "p.(Gln109Hisfs*36)" "" "0000018167" "00011459" "55" "327" "0" "334" "0" "c.327_334del" "r.(?)" "p.(Gln109Hisfs*36)" "" "0000018168" "00023818" "95" "327" "-2" "327" "-2" "c.327-2A>G" "r.spl" "p.?" "2i" "0000018168" "00023819" "55" "327" "-2" "327" "-2" "c.327-2A>G" "r.(=)" "p.(=)" "" "0000018168" "00011459" "55" "327" "-2" "327" "-2" "c.327-2A>G" "r.spl?" "p.?" "" "0000018169" "00023818" "95" "343" "0" "343" "0" "c.343T>C" "r.(?)" "p.(Cys115Arg)" "3" "0000018169" "00023819" "55" "343" "0" "343" "0" "c.343T>C" "r.(?)" "p.(Cys115Arg)" "" "0000018169" "00011459" "55" "343" "0" "343" "0" "c.343T>C" "r.(?)" "p.(Cys115Arg)" "" "0000018170" "00023818" "95" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Cys118Tyr)" "3" "0000018170" "00023819" "55" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Cys118Tyr)" "" "0000018170" "00011459" "55" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Cys118Tyr)" "" "0000018171" "00023818" "95" "353" "0" "353" "0" "c.353G>T" "r.(?)" "p.(Cys118Phe)" "3" "0000018171" "00023819" "55" "353" "0" "353" "0" "c.353G>T" "r.(?)" "p.(Cys118Phe)" "" "0000018171" "00011459" "55" "353" "0" "353" "0" "c.353G>T" "r.(?)" "p.(Cys118Phe)" "" "0000018172" "00023818" "95" "358" "0" "358" "0" "c.358del" "r.(?)" "p.(Glu120Argfs*9)" "3" "0000018172" "00023819" "55" "358" "0" "358" "0" "c.358del" "r.(?)" "p.(Glu120Argfs*9)" "" "0000018172" "00011459" "55" "358" "0" "358" "0" "c.358del" "r.(?)" "p.(Glu120Argfs*9)" "" "0000018173" "00023818" "95" "391" "0" "391" "0" "c.391del" "r.(?)" "p.(Ala131Argfs*49)" "3" "0000018173" "00023819" "55" "391" "0" "391" "0" "c.391del" "r.(?)" "p.(Ala131Argfs*49)" "" "0000018173" "00011459" "55" "391" "0" "391" "0" "c.391del" "r.(?)" "p.(Ala131Argfs*49)" "" "0000018174" "00023818" "95" "402" "0" "402" "0" "c.402C>A" "r.(?)" "p.(Cys134*)" "3" "0000018174" "00023819" "55" "402" "0" "402" "0" "c.402C>A" "r.(?)" "p.(Cys134*)" "" "0000018174" "00011459" "55" "402" "0" "402" "0" "c.402C>A" "r.(?)" "p.(Cys134*)" "" "0000018175" "00023818" "95" "408" "0" "408" "0" "c.408C>G" "r.(?)" "p.(Tyr136*)" "3" "0000018175" "00023819" "55" "408" "0" "408" "0" "c.408C>G" "r.(?)" "p.(Tyr136*)" "" "0000018175" "00011459" "55" "408" "0" "408" "0" "c.408C>G" "r.(?)" "p.(Tyr136*)" "" "0000018176" "00023818" "95" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(His137Tyr)" "3" "0000018176" "00023819" "55" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(His137Tyr)" "" "0000018176" "00011459" "55" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(His137Tyr)" "" "0000018177" "00023818" "95" "410" "0" "410" "0" "c.410A>G" "r.(?)" "p.(His137Arg)" "3" "0000018177" "00023819" "55" "410" "0" "410" "0" "c.410A>G" "r.(?)" "p.(His137Arg)" "" "0000018177" "00011459" "55" "410" "0" "410" "0" "c.410A>G" "r.(?)" "p.(His137Arg)" "" "0000018178" "00023818" "95" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Cys140Tyr)" "3" "0000018178" "00023819" "55" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Cys140Tyr)" "" "0000018178" "00011459" "55" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Cys140Tyr)" "" "0000018179" "00023818" "95" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Cys143Tyr)" "3" "0000018179" "00023819" "55" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Cys143Tyr)" "" "0000018179" "00011459" "55" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Cys143Tyr)" "" "0000018180" "00023818" "95" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Cys143Tyr)" "3" "0000018180" "00023819" "55" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Cys143Tyr)" "" "0000018180" "00011459" "55" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Cys143Tyr)" "" "0000018181" "00023818" "95" "428" "0" "428" "0" "c.428G>C" "r.(?)" "p.(Cys143Ser)" "3" "0000018181" "00023819" "55" "428" "0" "428" "0" "c.428G>C" "r.(?)" "p.(Cys143Ser)" "" "0000018181" "00011459" "55" "428" "0" "428" "0" "c.428G>C" "r.(?)" "p.(Cys143Ser)" "" "0000018182" "00023818" "95" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Cys146Tyr)" "3" "0000018182" "00023819" "55" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Cys146Tyr)" "" "0000018182" "00011459" "55" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Cys146Tyr)" "" "0000018183" "00023818" "95" "437" "0" "437" "0" "c.437G>T" "r.(?)" "p.(Cys146Phe)" "3" "0000018183" "00023819" "55" "437" "0" "437" "0" "c.437G>T" "r.(?)" "p.(Cys146Phe)" "" "0000018183" "00011459" "55" "437" "0" "437" "0" "c.437G>T" "r.(?)" "p.(Cys146Phe)" "" "0000018184" "00023818" "95" "443" "0" "443" "0" "c.443G>C" "r.(?)" "p.(Arg148Pro)" "3" "0000018184" "00023819" "55" "443" "0" "443" "0" "c.443G>C" "r.(?)" "p.(Arg148Pro)" "" "0000018184" "00011459" "55" "443" "0" "443" "0" "c.443G>C" "r.(?)" "p.(Arg148Pro)" "" "0000018185" "00023818" "95" "465" "0" "466" "0" "c.465_466insGAAT" "r.(?)" "p.(Phe156Glufs*14)" "3" "0000018185" "00023819" "55" "465" "0" "466" "0" "c.465_466insGAAT" "r.(?)" "p.(Phe156Glufs*14)" "" "0000018185" "00011459" "55" "465" "0" "466" "0" "c.465_466insGAAT" "r.(?)" "p.(Phe156Glufs*14)" "" "0000018186" "00023818" "95" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Gln162*)" "3" "0000018186" "00023819" "55" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Gln162*)" "" "0000018186" "00011459" "55" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Gln162*)" "" "0000018187" "00023818" "95" "491" "-1848" "672" "3" "c.491-1848_672+3del" "r.del" "p.?" "3" "0000018187" "00023819" "55" "327" "-1684" "675" "0" "c.327-1684_675del" "r.?" "p.?" "" "0000018187" "00011459" "55" "327" "-1684" "675" "0" "c.327-1684_675del" "r.?" "p.?" "" "0000018188" "00023818" "95" "495" "0" "495" "0" "c.495C>G" "r.(?)" "p.(Cys165Trp)" "3" "0000018188" "00023819" "55" "495" "0" "495" "0" "c.495C>G" "r.(?)" "p.(Cys165Trp)" "" "0000018188" "00011459" "55" "495" "0" "495" "0" "c.495C>G" "r.(?)" "p.(Cys165Trp)" "" "0000018189" "00023818" "95" "507" "0" "507" "0" "c.507C>A" "r.(?)" "p.(Tyr169*)" "3" "0000018189" "00023819" "55" "507" "0" "507" "0" "c.507C>A" "r.(?)" "p.(Tyr169*)" "" "0000018189" "00011459" "55" "507" "0" "507" "0" "c.507C>A" "r.(?)" "p.(Tyr169*)" "" "0000018190" "00023818" "95" "554" "0" "555" "0" "c.554_555insACTCCGGT" "r.(?)" "p.(Asp185Glufs*6)" "3" "0000018190" "00023819" "55" "554" "0" "555" "0" "c.554_555insACTCCGGT" "r.(?)" "p.(Asp185Glufs*6)" "" "0000018190" "00011459" "55" "554" "0" "555" "0" "c.554_555insACTCCGGT" "r.(?)" "p.(Asp185Glufs*6)" "" "0000018191" "00023818" "95" "603" "0" "603" "0" "c.603del" "r.(?)" "p.(Gln202Argfs*73)" "4" "0000018191" "00023819" "55" "603" "0" "603" "0" "c.603del" "r.(?)" "p.(Gln202Argfs*73)" "" "0000018191" "00011459" "55" "603" "0" "603" "0" "c.603del" "r.(?)" "p.(Gln202Argfs*73)" "" "0000018192" "00023818" "95" "622" "0" "624" "0" "c.622_624delinsA" "r.(?)" "p.(Gly208Lysfs*4)" "4" "0000018192" "00023819" "55" "622" "0" "624" "0" "c.622_624delinsA" "r.(?)" "p.(Gly208Lysfs*4)" "" "0000018192" "00011459" "55" "622" "0" "624" "0" "c.622_624delinsA" "r.(?)" "p.(Gly208Lysfs*4)" "" "0000018193" "00023818" "95" "641" "0" "641" "0" "c.641del" "r.(?)" "p.(Lys214Argfs*61)" "4" "0000018193" "00023819" "55" "641" "0" "641" "0" "c.641del" "r.(?)" "p.(Lys214Argfs*61)" "" "0000018193" "00011459" "55" "641" "0" "641" "0" "c.641del" "r.(?)" "p.(Lys214Argfs*61)" "" "0000018194" "00023818" "95" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "4" "0000018194" "00023819" "55" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "" "0000018194" "00011459" "55" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "" "0000018195" "00023818" "95" "661" "0" "661" "0" "c.661del" "r.(?)" "p.(Arg221Aspfs*54)" "4" "0000018195" "00023819" "55" "661" "0" "661" "0" "c.661del" "r.(?)" "p.(Arg221Aspfs*54)" "" "0000018195" "00011459" "55" "661" "0" "661" "0" "c.661del" "r.(?)" "p.(Arg221Aspfs*54)" "" "0000018196" "00023818" "95" "663" "0" "663" "0" "c.663dup" "r.(?)" "p.(Pro222Thrfs*34)" "4" "0000018196" "00023819" "55" "663" "0" "663" "0" "c.663dup" "r.(?)" "p.(Pro222Thrfs*34)" "" "0000018196" "00011459" "55" "663" "0" "663" "0" "c.663dup" "r.(?)" "p.(Pro222Thrfs*34)" "" "0000018197" "00023818" "95" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "4" "0000018197" "00023819" "55" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" "0000018197" "00011459" "55" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" "0000018198" "00023818" "95" "672" "0" "672" "0" "c.672dup" "r.(?)" "p.(Ile225Hisfs*31)" "4" "0000018198" "00023819" "55" "672" "0" "672" "0" "c.672dup" "r.(?)" "p.(Ile225Hisfs*31)" "" "0000018198" "00011459" "55" "672" "0" "672" "0" "c.672dup" "r.(?)" "p.(Ile225Hisfs*31)" "" "0000018199" "00023818" "95" "672" "0" "672" "0" "c.672dup" "r.(?)" "p.(Ile225Hisfs*31)" "4" "0000018199" "00023819" "55" "672" "0" "672" "0" "c.672dup" "r.(?)" "p.(Ile225Hisfs*31)" "" "0000018199" "00011459" "55" "672" "0" "672" "0" "c.672dup" "r.(?)" "p.(Ile225Hisfs*31)" "" "0000018200" "00023818" "95" "676" "0" "681" "0" "c.676_681del" "r.(?)" "p.(Leu226_Thr227del)" "4" "0000018200" "00023819" "55" "676" "0" "681" "0" "c.676_681del" "r.(?)" "p.(Leu226_Thr227del)" "" "0000018200" "00011459" "55" "676" "0" "681" "0" "c.676_681del" "r.(?)" "p.(Leu226_Thr227del)" "" "0000018201" "00023818" "95" "680" "0" "686" "0" "c.680_686del" "r.(?)" "p.(Thr227Serfs*46)" "4" "0000018201" "00023819" "55" "680" "0" "686" "0" "c.680_686del" "r.(?)" "p.(Thr227Serfs*46)" "" "0000018201" "00011459" "55" "680" "0" "686" "0" "c.680_686del" "r.(?)" "p.(Thr227Serfs*46)" "" "0000018202" "00023818" "95" "691" "0" "691" "0" "c.691C>T" "r.(?)" "p.(Arg231*)" "4" "0000018202" "00023819" "55" "691" "0" "691" "0" "c.691C>T" "r.(?)" "p.(Arg231*)" "" "0000018202" "00011459" "55" "691" "0" "691" "0" "c.691C>T" "r.(?)" "p.(Arg231*)" "" "0000018203" "00023818" "95" "706" "0" "706" "0" "c.706G>C" "r.(?)" "p.(Ala236Pro)" "4" "0000018203" "00023819" "55" "706" "0" "706" "0" "c.706G>C" "r.(?)" "p.(Ala236Pro)" "" "0000018203" "00011459" "55" "706" "0" "706" "0" "c.706G>C" "r.(?)" "p.(Ala236Pro)" "" "0000018204" "00023818" "95" "715" "0" "715" "0" "c.715G>T" "r.(?)" "p.(Glu239*)" "4" "0000018204" "00023819" "55" "715" "0" "715" "0" "c.715G>T" "r.(?)" "p.(Glu239*)" "" "0000018204" "00011459" "55" "715" "0" "715" "0" "c.715G>T" "r.(?)" "p.(Glu239*)" "" "0000018205" "00023818" "95" "720" "0" "722" "0" "c.720_722del" "r.(?)" "p.(Ser242del)" "4" "0000018205" "00023819" "55" "720" "0" "722" "0" "c.720_722del" "r.(?)" "p.(Ser242del)" "" "0000018205" "00011459" "55" "720" "0" "722" "0" "c.720_722del" "r.(?)" "p.(Ser242del)" "" "0000018206" "00023818" "95" "721" "0" "721" "0" "c.721T>C" "r.(?)" "p.(Ser241Pro)" "4" "0000018206" "00023819" "55" "721" "0" "721" "0" "c.721T>C" "r.(?)" "p.(Ser241Pro)" "" "0000018206" "00011459" "55" "721" "0" "721" "0" "c.721T>C" "r.(?)" "p.(Ser241Pro)" "" "0000018207" "00023818" "95" "722" "0" "722" "0" "c.722C>A" "r.(?)" "p.(Ser241*)" "4" "0000018207" "00023819" "55" "722" "0" "722" "0" "c.722C>A" "r.(?)" "p.(Ser241*)" "" "0000018207" "00011459" "55" "722" "0" "722" "0" "c.722C>A" "r.(?)" "p.(Ser241*)" "" "0000018208" "00023818" "95" "725" "0" "725" "0" "c.725C>A" "r.(?)" "p.(Ser242*)" "4" "0000018208" "00023819" "55" "725" "0" "725" "0" "c.725C>A" "r.(?)" "p.(Ser242*)" "" "0000018208" "00011459" "55" "725" "0" "725" "0" "c.725C>A" "r.(?)" "p.(Ser242*)" "" "0000018209" "00023818" "95" "728" "0" "728" "0" "c.728del" "r.(?)" "p.(Lys243Serfs*32)" "4" "0000018209" "00023819" "55" "728" "0" "728" "0" "c.728del" "r.(?)" "p.(Lys243Serfs*32)" "" "0000018209" "00011459" "55" "728" "0" "728" "0" "c.728del" "r.(?)" "p.(Lys243Serfs*32)" "" "0000018210" "00023818" "95" "735" "0" "736" "0" "c.735_736delinsAA" "r.(?)" "p.(Cys245*)" "4" "0000018210" "00023819" "55" "735" "0" "736" "0" "c.735_736delinsAA" "r.(?)" "p.(Cys245*)" "" "0000018210" "00011459" "55" "735" "0" "736" "0" "c.735_736delinsAA" "r.(?)" "p.(Cys245*)" "" "0000018211" "00023818" "95" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246*)" "4" "0000018211" "00023819" "55" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246*)" "" "0000018211" "00011459" "55" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246*)" "" "0000018212" "00023818" "95" "741" "1" "741" "1" "c.741+1G>A" "r.spl" "p.?" "4i" "0000018212" "00023819" "55" "741" "1" "741" "1" "c.741+1G>A" "r.(=)" "p.(=)" "" "0000018212" "00011459" "55" "741" "1" "741" "1" "c.741+1G>A" "r.spl?" "p.?" "" "0000018213" "00023818" "95" "741" "1" "741" "1" "c.741+1G>C" "r.spl" "p.?" "4i" "0000018213" "00023819" "55" "741" "1" "741" "1" "c.741+1G>C" "r.(=)" "p.(=)" "" "0000018213" "00011459" "55" "741" "1" "741" "1" "c.741+1G>C" "r.spl?" "p.?" "" "0000018214" "00023818" "95" "741" "1" "741" "1" "c.741+1G>T" "r.spl" "p.?" "4i" "0000018214" "00023819" "55" "741" "1" "741" "1" "c.741+1G>T" "r.(=)" "p.(=)" "" "0000018214" "00011459" "55" "741" "1" "741" "1" "c.741+1G>T" "r.spl?" "p.?" "" "0000018215" "00023818" "95" "741" "2" "741" "2" "c.741+2T>A" "r.spl" "p.?" "4i" "0000018215" "00023819" "55" "741" "2" "741" "2" "c.741+2T>A" "r.(=)" "p.(=)" "" "0000018215" "00011459" "55" "741" "2" "741" "2" "c.741+2T>A" "r.spl?" "p.?" "" "0000018216" "00023818" "95" "743" "0" "786" "0" "c.743_786del" "r.(?)" "p.(Val248Glyfs*89)" "5" "0000018216" "00023819" "55" "743" "0" "786" "0" "c.743_786del" "r.(?)" "p.(Val248Glyfs*83)" "" "0000018216" "00011459" "55" "743" "0" "786" "0" "c.743_786del" "r.(?)" "p.(Val248Glyfs*35)" "" "0000018217" "00023818" "95" "742" "-1" "742" "-1" "c.742-1G>A" "r.spl" "p.?" "4i" "0000018217" "00023819" "55" "742" "-1" "742" "-1" "c.742-1G>A" "r.(=)" "p.(=)" "" "0000018217" "00011459" "55" "742" "-1" "742" "-1" "c.742-1G>A" "r.spl?" "p.?" "" "0000018218" "00023818" "95" "742" "-1" "742" "-1" "c.742-1G>C" "r.spl" "p.?" "4i" "0000018218" "00023819" "55" "742" "-1" "742" "-1" "c.742-1G>C" "r.(=)" "p.(=)" "" "0000018218" "00011459" "55" "742" "-1" "742" "-1" "c.742-1G>C" "r.spl?" "p.?" "" "0000018219" "00023818" "95" "742" "-2" "742" "-2" "c.742-2A>G" "r.spl" "p.?" "4i" "0000018219" "00023819" "55" "742" "-2" "742" "-2" "c.742-2A>G" "r.(=)" "p.(=)" "" "0000018219" "00011459" "55" "742" "-2" "742" "-2" "c.742-2A>G" "r.spl?" "p.?" "" "0000018220" "00023818" "95" "745" "0" "745" "0" "c.745dup" "r.(?)" "p.(Arg249Profs*7)" "5" "0000018220" "00023819" "55" "745" "0" "745" "0" "c.745dup" "r.(?)" "p.(Arg249Profs*7)" "" "0000018220" "00011459" "55" "745" "0" "745" "0" "c.745dup" "r.(?)" "p.(Arg249Profs*7)" "" "0000018221" "00023818" "95" "745" "0" "745" "0" "c.745C>G" "r.(?)" "p.(Arg249Gly)" "5" "0000018221" "00023819" "55" "745" "0" "745" "0" "c.745C>G" "r.(?)" "p.(Arg249Gly)" "" "0000018221" "00011459" "55" "745" "0" "745" "0" "c.745C>G" "r.(?)" "p.(Arg249Gly)" "" "0000018222" "00023818" "95" "745" "0" "745" "0" "c.745C>G" "r.(?)" "p.(Arg249Gly)" "5" "0000018222" "00023819" "55" "745" "0" "745" "0" "c.745C>G" "r.(?)" "p.(Arg249Gly)" "" "0000018222" "00011459" "55" "745" "0" "745" "0" "c.745C>G" "r.(?)" "p.(Arg249Gly)" "" "0000018223" "00023818" "95" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Arg249*)" "5" "0000018223" "00023819" "55" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Arg249*)" "" "0000018223" "00011459" "55" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Arg249*)" "" "0000018224" "00023818" "95" "746" "0" "746" "0" "c.746G>C" "r.(?)" "p.(Arg249Pro)" "5" "0000018224" "00023819" "55" "746" "0" "746" "0" "c.746G>C" "r.(?)" "p.(Arg249Pro)" "" "0000018224" "00011459" "55" "746" "0" "746" "0" "c.746G>C" "r.(?)" "p.(Arg249Pro)" "" "0000018225" "00023818" "95" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Leu252Pro)" "5" "0000018225" "00023819" "55" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Leu252Pro)" "" "0000018225" "00011459" "55" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Leu252Pro)" "" "0000018226" "00023818" "95" "758" "0" "758" "0" "c.758C>T" "r.(?)" "p.(Ala253Val)" "5" "0000018226" "00023819" "55" "758" "0" "758" "0" "c.758C>T" "r.(?)" "p.(Ala253Val)" "" "0000018226" "00011459" "55" "758" "0" "758" "0" "c.758C>T" "r.(?)" "p.(Ala253Val)" "" "0000018227" "00023818" "95" "764" "0" "780" "0" "c.764_780del" "r.(?)" "p.(Glu255Alafs*91)" "5" "0000018227" "00023819" "55" "764" "0" "780" "0" "c.764_780del" "r.(?)" "p.(Glu255Alafs*85)" "" "0000018227" "00011459" "55" "764" "0" "780" "0" "c.764_780del" "r.(?)" "p.(Glu255Alafs*37)" "" "0000018228" "00023818" "95" "766" "0" "766" "0" "c.766dup" "r.(?)" "p.(Thr256Asnfs*96)" "5" "0000018228" "00023819" "55" "766" "0" "766" "0" "c.766dup" "r.(?)" "p.(Thr256Asnfs*90)" "" "0000018228" "00011459" "55" "766" "0" "766" "0" "c.766dup" "r.(?)" "p.(Thr256Asnfs*42)" "" "0000018229" "00023818" "95" "767" "0" "767" "0" "c.767C>G" "r.(?)" "p.(Thr256Arg)" "5" "0000018229" "00023819" "55" "767" "0" "767" "0" "c.767C>G" "r.(?)" "p.(Thr256Arg)" "" "0000018229" "00011459" "55" "767" "0" "767" "0" "c.767C>G" "r.(?)" "p.(Thr256Arg)" "" "0000018230" "00023818" "95" "770" "0" "770" "0" "c.770del" "r.(?)" "p.(Gly257Alafs*18)" "5" "0000018230" "00023819" "55" "770" "0" "770" "0" "c.770del" "r.(?)" "p.(Gly257Alafs*18)" "" "0000018230" "00011459" "55" "770" "0" "770" "0" "c.770del" "r.(?)" "p.(Gly257Alafs*18)" "" "0000018231" "00023818" "95" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Leu258Phe)" "5" "0000018231" "00023819" "55" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Leu258Phe)" "" "0000018231" "00011459" "55" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Leu258Phe)" "" "0000018232" "00023818" "95" "774" "0" "775" "0" "c.774_775del" "r.(?)" "p.(Ser259Cysfs*92)" "5" "0000018232" "00023819" "55" "774" "0" "775" "0" "c.774_775del" "r.(?)" "p.(Ser259Cysfs*86)" "" "0000018232" "00011459" "55" "774" "0" "775" "0" "c.774_775del" "r.(?)" "p.(Ser259Cysfs*38)" "" "0000018233" "00023818" "95" "775" "0" "776" "0" "c.775_776del" "r.(?)" "p.(Ser259Cysfs*92)" "5" "0000018233" "00023819" "55" "775" "0" "776" "0" "c.775_776del" "r.(?)" "p.(Ser259Cysfs*86)" "" "0000018233" "00011459" "55" "775" "0" "776" "0" "c.775_776del" "r.(?)" "p.(Ser259Cysfs*38)" "" "0000018234" "00023818" "95" "777" "0" "777" "0" "c.777del" "r.(?)" "p.(Ser259Argfs*16)" "5" "0000018234" "00023819" "55" "777" "0" "777" "0" "c.777del" "r.(?)" "p.(Ser259Argfs*16)" "" "0000018234" "00011459" "55" "777" "0" "777" "0" "c.777del" "r.(?)" "p.(Ser259Argfs*16)" "" "0000018235" "00023818" "95" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Cys)" "5" "0000018235" "00023819" "55" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Cys)" "" "0000018235" "00011459" "55" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Cys)" "" "0000018236" "00023818" "95" "788" "0" "788" "0" "c.788T>A" "r.(?)" "p.(Val263Asp)" "5" "0000018236" "00023819" "55" "788" "0" "788" "0" "c.788T>A" "r.(?)" "p.(Val263Asp)" "" "0000018236" "00011459" "55" "788" "0" "788" "0" "c.788T>A" "r.(?)" "p.(Val263Asp)" "" "0000018237" "00023818" "95" "788" "0" "788" "0" "c.788T>C" "r.(?)" "p.(Val263Ala)" "5" "0000018237" "00023819" "55" "788" "0" "788" "0" "c.788T>C" "r.(?)" "p.(Val263Ala)" "" "0000018237" "00011459" "55" "788" "0" "788" "0" "c.788T>C" "r.(?)" "p.(Val263Ala)" "" "0000018238" "00023818" "95" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Gln264*)" "5" "0000018238" "00023819" "55" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Gln264*)" "" "0000018238" "00011459" "55" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Gln264*)" "" "0000018239" "00023818" "95" "793" "0" "793" "0" "c.793G>C" "r.(?)" "p.(Val265Leu)" "5" "0000018239" "00023819" "55" "793" "0" "793" "0" "c.793G>C" "r.(?)" "p.(Val265Leu)" "" "0000018239" "00011459" "55" "793" "0" "793" "0" "c.793G>C" "r.(?)" "p.(Val265Leu)" "" "0000018240" "00023818" "95" "793" "0" "793" "0" "c.793G>T" "r.(?)" "p.(Val265Phe)" "5" "0000018240" "00023819" "55" "793" "0" "793" "0" "c.793G>T" "r.(?)" "p.(Val265Phe)" "" "0000018240" "00011459" "55" "793" "0" "793" "0" "c.793G>T" "r.(?)" "p.(Val265Phe)" "" "0000018241" "00023818" "95" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Trp266*)" "5" "0000018241" "00023819" "55" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Trp266*)" "" "0000018241" "00011459" "55" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Trp266*)" "" "0000018242" "00023818" "95" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.(Trp266Cys)" "5" "0000018242" "00023819" "55" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.(Trp266Cys)" "" "0000018242" "00011459" "55" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.(Trp266Cys)" "" "0000018243" "00023818" "95" "799" "0" "799" "0" "c.799T>A" "r.(?)" "p.(Phe267Ile)" "5" "0000018243" "00023819" "55" "799" "0" "799" "0" "c.799T>A" "r.(?)" "p.(Phe267Ile)" "" "0000018243" "00011459" "55" "799" "0" "799" "0" "c.799T>A" "r.(?)" "p.(Phe267Ile)" "" "0000018244" "00023818" "95" "799" "0" "799" "0" "c.799T>C" "r.(?)" "p.(Phe267Leu)" "5" "0000018244" "00023819" "55" "799" "0" "799" "0" "c.799T>C" "r.(?)" "p.(Phe267Leu)" "" "0000018244" "00011459" "55" "799" "0" "799" "0" "c.799T>C" "r.(?)" "p.(Phe267Leu)" "" "0000018245" "00023818" "95" "802" "0" "802" "0" "c.802C>G" "r.(?)" "p.(Gln268Glu)" "5" "0000018245" "00023819" "55" "802" "0" "802" "0" "c.802C>G" "r.(?)" "p.(Gln268Glu)" "" "0000018245" "00011459" "55" "802" "0" "802" "0" "c.802C>G" "r.(?)" "p.(Gln268Glu)" "" "0000018246" "00023818" "95" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Gln268*)" "5" "0000018246" "00023819" "55" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Gln268*)" "" "0000018246" "00011459" "55" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Gln268*)" "" "0000018247" "00023818" "95" "804" "0" "804" "0" "c.804G>T" "r.(?)" "p.(Gln268His)" "5" "0000018247" "00023819" "55" "804" "0" "804" "0" "c.804G>T" "r.(?)" "p.(Gln268His)" "" "0000018247" "00011459" "55" "804" "0" "804" "0" "c.804G>T" "r.(?)" "p.(Gln268His)" "" "0000018248" "00023818" "95" "806" "0" "811" "0" "c.806_811del" "r.(?)" "p.(Asn269_Gln270del)" "5" "0000018248" "00023819" "95" "806" "0" "811" "0" "c.806_811del" "r.(?)" "p.(Asn269_Gln270del)" "" "0000018248" "00011459" "95" "806" "0" "811" "0" "c.806_811del" "r.(?)" "p.(Asn269_Gln270del)" "" "0000018249" "00023818" "95" "807" "0" "807" "0" "c.807C>A" "r.(?)" "p.(Asn269Lys)" "5" "0000018249" "00023819" "55" "807" "0" "807" "0" "c.807C>A" "r.(?)" "p.(Asn269Lys)" "" "0000018249" "00011459" "55" "807" "0" "807" "0" "c.807C>A" "r.(?)" "p.(Asn269Lys)" "" "0000018250" "00023818" "95" "814" "0" "814" "0" "c.814G>C" "r.(?)" "p.(Ala272Pro)" "5" "0000018250" "00023819" "55" "814" "0" "814" "0" "c.814G>C" "r.(?)" "p.(Ala272Pro)" "" "0000018250" "00011459" "55" "814" "0" "814" "0" "c.814G>C" "r.(?)" "p.(Ala272Pro)" "" "0000018251" "00023818" "95" "819" "1" "819" "1" "c.819+1G>A" "r.spl" "p.?" "5i" "0000018251" "00023819" "55" "819" "1" "819" "1" "c.819+1G>A" "r.(=)" "p.(=)" "" "0000018251" "00011459" "55" "819" "1" "819" "1" "c.819+1G>A" "r.spl?" "p.?" "" "0000018252" "00023818" "95" "819" "2" "819" "2" "c.819+2T>G" "r.spl" "p.?" "5i" "0000018252" "00023819" "55" "819" "2" "819" "2" "c.819+2T>G" "r.(=)" "p.(=)" "" "0000018252" "00011459" "55" "819" "2" "819" "2" "c.819+2T>G" "r.spl?" "p.?" "" "0000018253" "00023818" "95" "820" "-1" "820" "-1" "c.820-1G>A" "r.spl" "p.?" "5i" "0000018253" "00023819" "55" "820" "-1" "820" "-1" "c.820-1G>A" "r.(=)" "p.(=)" "" "0000018253" "00011459" "55" "820" "-1" "820" "-1" "c.820-1G>A" "r.spl?" "p.?" "" "0000018254" "00023818" "95" "820" "-2" "820" "-2" "c.820-2del" "r.spl" "p.?" "5i" "0000018254" "00023819" "55" "820" "-2" "820" "-2" "c.820-2del" "r.(=)" "p.(=)" "" "0000018254" "00011459" "55" "820" "-2" "820" "-2" "c.820-2del" "r.spl?" "p.?" "" "0000018255" "00023818" "95" "829" "0" "829" "0" "c.829del" "r.(?)" "p.(Leu277Trpfs*29)" "6" "0000018255" "00023819" "55" "829" "0" "829" "0" "c.829del" "r.(?)" "p.(Leu277Trpfs*29)" "" "0000018255" "00011459" "55" "829" "0" "829" "0" "c.829del" "r.(?)" "p.(Leu277Trpfs*40)" "" "0000018256" "00023818" "95" "838" "0" "847" "0" "c.838_847del" "r.(?)" "p.(Arg280Serfs*23)" "6" "0000018256" "00023819" "55" "838" "0" "847" "0" "c.838_847del" "r.(?)" "p.(Arg280Serfs*23)" "" "0000018256" "00011459" "55" "838" "0" "847" "0" "c.838_847del" "r.(?)" "p.(Arg280Serfs*34)" "" "0000055810" "00023818" "70" "139" "2" "139" "2" "c.139+2T>C" "r.spl?" "p.?" "1i" "0000055811" "00023818" "70" "225" "0" "225" "0" "c.225dup" "r.(?)" "p.(Trp76Leufs*72)" "2" "0000055812" "00023818" "70" "230" "0" "231" "0" "c.230_231insGAGGATGGCA" "r.(?)" "p.(His77Glnfs*74)" "2" "0000055813" "00023818" "70" "312" "0" "312" "0" "c.312dup" "r.(?)" "p.(Gln105Thrfs*43)" "2" "0000055825" "00023818" "70" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Gln105Thrfs*43)" "2" "0000055831" "00023818" "70" "317" "0" "317" "0" "c.317A>C" "r.(?)" "p.(Asp106Ala" "2" "0000055833" "00023818" "70" "436" "0" "436" "0" "c.436T>A" "r.(?)" "p.(Cys146Ser)" "3" "0000055834" "00023818" "70" "140" "-143" "140" "-143" "c.140-143dup" "r.(?)" "p.Leu110thrfs*39" "3" "0000055835" "00023818" "70" "562" "0" "562" "0" "c.562A>T" "r.(?)" "p.(Lys188*)" "4" "0000055836" "00023818" "70" "632" "0" "632" "0" "c.632del" "r.(?)" "p.(Asp211Valfs*64)" "4" "0000055837" "00023818" "70" "683" "0" "684" "0" "c.683_684insTCA" "r.(?)" "p.(Gln230dup)" "4" "0000055838" "00023818" "70" "701" "0" "701" "0" "c.701T>C" "r.(?)" "p.(Phe234Ser)" "4" "0000055839" "00023818" "70" "713" "0" "713" "0" "c.713T>C" "r.(?)" "p.(Phe238Ser)" "4" "0000055840" "00023818" "70" "731" "0" "731" "0" "c.731del" "r.(?)" "p.(Pro244Leufs*31)" "4" "0000055841" "00023818" "70" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Val262Met)" "5" "0000055842" "00023818" "70" "794" "0" "794" "0" "c.794T>C" "r.(?)" "p.(Val265Ala)" "5" "0000055957" "00023818" "70" "818" "0" "819" "2" "c.818_819+2delinsGGG" "r.(?)" "p.(Lys273Argfs*79)" "5_5i" "0000055958" "00011459" "70" "820" "-1" "1220" "1" "c.(819+1_820-1)_(1220+1_1221-1)del" "r.(?)" "p.(?)" "" "0000129944" "00023818" "70" "415" "0" "417" "0" "c.415_417delinsAA" "r.(?)" "p.(Gly139Asnfs*41)" "3" "0000222847" "00023818" "90" "613" "0" "613" "0" "c.613C>T" "r.(?)" "p.(Gln205*)" "4" "0000222848" "00023818" "70" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Cys80Tyr)" "2" "0000248609" "00023818" "10" "441" "0" "441" "0" "c.441A>G" "r.(?)" "p.(Glu147=)" "" "0000248609" "00023819" "10" "441" "0" "441" "0" "c.441A>G" "r.(?)" "p.(Glu147=)" "" "0000248609" "00011459" "10" "441" "0" "441" "0" "c.441A>G" "r.(?)" "p.(Glu147=)" "" "0000251436" "00023818" "10" "560" "-28" "560" "-28" "c.560-28A>C" "r.(=)" "p.(=)" "" "0000251436" "00023819" "10" "560" "-28" "560" "-28" "c.560-28A>C" "r.(=)" "p.(=)" "" "0000251436" "00011459" "10" "560" "-28" "560" "-28" "c.560-28A>C" "r.(=)" "p.(=)" "" "0000282260" "00023818" "10" "326" "7" "326" "7" "c.326+7G>C" "r.(=)" "p.(=)" "" "0000282260" "00023819" "10" "326" "7" "326" "7" "c.326+7G>C" "r.(=)" "p.(=)" "" "0000282260" "00011459" "10" "326" "7" "326" "7" "c.326+7G>C" "r.(=)" "p.(=)" "" "0000286010" "00023818" "10" "1030" "48" "1030" "48" "c.1030+48G>A" "r.(=)" "p.(=)" "" "0000286010" "00023819" "10" "1051" "27" "1051" "27" "c.1051+27G>A" "r.(=)" "p.(=)" "" "0000286010" "00011459" "10" "1063" "48" "1063" "48" "c.1063+48G>A" "r.(=)" "p.(=)" "" "0000286011" "00023818" "10" "559" "20" "559" "20" "c.559+20G>A" "r.(=)" "p.(=)" "" "0000286011" "00023819" "10" "559" "20" "559" "20" "c.559+20G>A" "r.(=)" "p.(=)" "" "0000286011" "00011459" "10" "559" "20" "559" "20" "c.559+20G>A" "r.(=)" "p.(=)" "" "0000286012" "00023818" "10" "560" "-19" "560" "-19" "c.560-19C>T" "r.(=)" "p.(=)" "" "0000286012" "00023819" "10" "560" "-19" "560" "-19" "c.560-19C>T" "r.(=)" "p.(=)" "" "0000286012" "00011459" "10" "560" "-19" "560" "-19" "c.560-19C>T" "r.(=)" "p.(=)" "" "0000286013" "00023818" "10" "726" "0" "726" "0" "c.726G>C" "r.(?)" "p.(Ser242=)" "" "0000286013" "00023819" "10" "726" "0" "726" "0" "c.726G>C" "r.(?)" "p.(Ser242=)" "" "0000286013" "00011459" "10" "726" "0" "726" "0" "c.726G>C" "r.(?)" "p.(Ser242=)" "" "0000286014" "00023818" "10" "886" "28" "886" "28" "c.886+28G>A" "r.(=)" "p.(=)" "" "0000286014" "00023819" "10" "886" "28" "886" "28" "c.886+28G>A" "r.(=)" "p.(=)" "" "0000286014" "00011459" "10" "914" "0" "914" "0" "c.914G>A" "r.(?)" "p.(Gly305Asp)" "" "0000286015" "00023818" "10" "887" "-77" "887" "-77" "c.887-77T>A" "r.(=)" "p.(=)" "" "0000286015" "00023819" "10" "887" "-77" "887" "-77" "c.887-77T>A" "r.(=)" "p.(=)" "" "0000286015" "00011459" "10" "920" "-77" "920" "-77" "c.920-77T>A" "r.(=)" "p.(=)" "" "0000337121" "00023818" "90" "140" "-1" "140" "-1" "c.140-1G>A" "r.spl?" "p.?" "" "0000337121" "00023819" "90" "140" "-1" "140" "-1" "c.140-1G>A" "r.spl?" "p.?" "" "0000337121" "00011459" "90" "140" "-1" "140" "-1" "c.140-1G>A" "r.spl?" "p.?" "" "0000337122" "00023818" "90" "326" "2" "326" "2" "c.326+2T>C" "r.spl?" "p.?" "" "0000337122" "00023819" "90" "326" "2" "326" "2" "c.326+2T>C" "r.spl?" "p.?" "" "0000337122" "00011459" "90" "326" "2" "326" "2" "c.326+2T>C" "r.spl?" "p.?" "" "0000337123" "00023818" "10" "326" "7" "326" "7" "c.326+7G>C" "r.(=)" "p.(=)" "" "0000337123" "00023819" "10" "326" "7" "326" "7" "c.326+7G>C" "r.(=)" "p.(=)" "" "0000337123" "00011459" "10" "326" "7" "326" "7" "c.326+7G>C" "r.(=)" "p.(=)" "" "0000337125" "00023818" "90" "741" "1" "741" "1" "c.741+1G>A" "r.spl?" "p.?" "" "0000337125" "00023819" "90" "741" "1" "741" "1" "c.741+1G>A" "r.spl?" "p.?" "" "0000337125" "00011459" "90" "741" "1" "741" "1" "c.741+1G>A" "r.spl?" "p.?" "" "0000337126" "00023818" "90" "819" "1" "819" "1" "c.819+1G>A" "r.spl?" "p.?" "" "0000337126" "00023819" "90" "819" "1" "819" "1" "c.819+1G>A" "r.spl?" "p.?" "" "0000337126" "00011459" "90" "819" "1" "819" "1" "c.819+1G>A" "r.spl?" "p.?" "" "0000339383" "00023818" "10" "441" "0" "441" "0" "c.441A>G" "r.(?)" "p.(Glu147=)" "" "0000339383" "00023819" "10" "441" "0" "441" "0" "c.441A>G" "r.(?)" "p.(Glu147=)" "" "0000339383" "00011459" "10" "441" "0" "441" "0" "c.441A>G" "r.(?)" "p.(Glu147=)" "" "0000339384" "00023818" "10" "726" "0" "726" "0" "c.726G>C" "r.(?)" "p.(Ser242=)" "" "0000339384" "00023819" "10" "726" "0" "726" "0" "c.726G>C" "r.(?)" "p.(Ser242=)" "" "0000339384" "00011459" "10" "726" "0" "726" "0" "c.726G>C" "r.(?)" "p.(Ser242=)" "" "0000341268" "00023818" "70" "637" "0" "637" "0" "c.637G>C" "r.(?)" "p.(Gly213Arg)" "" "0000341268" "00023819" "70" "637" "0" "637" "0" "c.637G>C" "r.(?)" "p.(Gly213Arg)" "" "0000341268" "00011459" "70" "637" "0" "637" "0" "c.637G>C" "r.(?)" "p.(Gly213Arg)" "" "0000341288" "00023818" "90" "706" "0" "706" "0" "c.706G>C" "r.(?)" "p.(Ala236Pro)" "" "0000341288" "00023819" "90" "706" "0" "706" "0" "c.706G>C" "r.(?)" "p.(Ala236Pro)" "" "0000341288" "00011459" "90" "706" "0" "706" "0" "c.706G>C" "r.(?)" "p.(Ala236Pro)" "" "0000341301" "00023818" "70" "758" "0" "758" "0" "c.758C>A" "r.(?)" "p.(Ala253Glu)" "" "0000341301" "00023819" "70" "758" "0" "758" "0" "c.758C>A" "r.(?)" "p.(Ala253Glu)" "" "0000341301" "00011459" "70" "758" "0" "758" "0" "c.758C>A" "r.(?)" "p.(Ala253Glu)" "" "0000341962" "00023818" "30" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "" "0000341962" "00023819" "30" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "" "0000341962" "00011459" "30" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "" "0000342296" "00023818" "90" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221Ter)" "" "0000342296" "00023819" "90" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221Ter)" "" "0000342296" "00011459" "90" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221Ter)" "" "0000342326" "00023818" "90" "691" "0" "691" "0" "c.691C>T" "r.(?)" "p.(Arg231Ter)" "" "0000342326" "00023819" "90" "691" "0" "691" "0" "c.691C>T" "r.(?)" "p.(Arg231Ter)" "" "0000342326" "00011459" "90" "691" "0" "691" "0" "c.691C>T" "r.(?)" "p.(Arg231Ter)" "" "0000342365" "00023818" "70" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0000342365" "00023819" "70" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0000342365" "00011459" "70" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0000342498" "00023818" "70" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Arg271Lys)" "" "0000342498" "00023819" "70" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Arg271Lys)" "" "0000342498" "00011459" "70" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Arg271Lys)" "" "0000344225" "00023818" "90" "309" "0" "309" "0" "c.309C>G" "r.(?)" "p.(Cys103Trp)" "" "0000344225" "00023819" "90" "309" "0" "309" "0" "c.309C>G" "r.(?)" "p.(Cys103Trp)" "" "0000344225" "00011459" "90" "309" "0" "309" "0" "c.309C>G" "r.(?)" "p.(Cys103Trp)" "" "0000344250" "00023818" "90" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Cys143Tyr)" "" "0000344250" "00023819" "90" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Cys143Tyr)" "" "0000344250" "00011459" "90" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Cys143Tyr)" "" "0000344451" "00023818" "70" "280" "0" "280" "0" "c.280T>C" "r.(?)" "p.(Cys94Arg)" "" "0000344451" "00023819" "70" "280" "0" "280" "0" "c.280T>C" "r.(?)" "p.(Cys94Arg)" "" "0000344451" "00011459" "70" "280" "0" "280" "0" "c.280T>C" "r.(?)" "p.(Cys94Arg)" "" "0000344497" "00023818" "90" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Gln108Ter)" "" "0000344497" "00023819" "90" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Gln108Ter)" "" "0000344497" "00011459" "90" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Gln108Ter)" "" "0000344729" "00023818" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Gln282Ter)" "" "0000344729" "00023819" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Gln282Ter)" "" "0000344729" "00011459" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Gln282Ter)" "" "0000344994" "00023818" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Gln87Ter)" "" "0000344994" "00023819" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Gln87Ter)" "" "0000344994" "00011459" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Gln87Ter)" "" "0000345164" "00023818" "90" "478" "0" "478" "0" "c.478G>T" "r.(?)" "p.(Glu160Ter)" "" "0000345164" "00023819" "90" "478" "0" "478" "0" "c.478G>T" "r.(?)" "p.(Glu160Ter)" "" "0000345164" "00011459" "90" "478" "0" "478" "0" "c.478G>T" "r.(?)" "p.(Glu160Ter)" "" "0000345274" "00023818" "90" "715" "0" "715" "0" "c.715G>T" "r.(?)" "p.(Glu239Ter)" "" "0000345274" "00023819" "90" "715" "0" "715" "0" "c.715G>T" "r.(?)" "p.(Glu239Ter)" "" "0000345274" "00011459" "90" "715" "0" "715" "0" "c.715G>T" "r.(?)" "p.(Glu239Ter)" "" "0000347102" "00023818" "90" "933" "0" "933" "0" "c.933del" "r.(?)" "p.(Leu312TrpfsTer47)" "" "0000347102" "00023819" "90" "933" "0" "933" "0" "c.933del" "r.(?)" "p.(Leu312TrpfsTer36)" "" "0000347102" "00011459" "90" "966" "0" "966" "0" "c.966del" "r.(?)" "p.(Leu323TrpfsTer47)" "" "0000349751" "00023818" "90" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.(Trp266Cys)" "" "0000349751" "00023819" "90" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.(Trp266Cys)" "" "0000349751" "00011459" "90" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.(Trp266Cys)" "" "0000349914" "00023818" "90" "406" "0" "406" "0" "c.406T>C" "r.(?)" "p.(Tyr136His)" "" "0000349914" "00023819" "90" "406" "0" "406" "0" "c.406T>C" "r.(?)" "p.(Tyr136His)" "" "0000349914" "00011459" "90" "406" "0" "406" "0" "c.406T>C" "r.(?)" "p.(Tyr136His)" "" "0000350438" "00023818" "90" "794" "0" "794" "0" "c.794T>C" "r.(?)" "p.(Val265Ala)" "" "0000350438" "00023819" "90" "794" "0" "794" "0" "c.794T>C" "r.(?)" "p.(Val265Ala)" "" "0000350438" "00011459" "90" "794" "0" "794" "0" "c.794T>C" "r.(?)" "p.(Val265Ala)" "" "0000350878" "00023818" "90" "139" "1" "139" "1" "c.139+1G>T" "r.spl?" "p.?" "" "0000350878" "00023819" "90" "139" "1" "139" "1" "c.139+1G>T" "r.spl?" "p.?" "" "0000350878" "00011459" "90" "139" "1" "139" "1" "c.139+1G>T" "r.spl?" "p.?" "" "0000447051" "00023818" "70" "671" "0" "671" "0" "c.671C>T" "r.(?)" "p.(Thr224Ile)" "4" "0000536262" "00023818" "30" "-3" "0" "-3" "0" "c.-3C>T" "r.(?)" "p.(=)" "" "0000536262" "00023819" "30" "-3" "0" "-3" "0" "c.-3C>T" "r.(?)" "p.(=)" "" "0000536262" "00011459" "30" "-3" "0" "-3" "0" "c.-3C>T" "r.(?)" "p.(=)" "" "0000536263" "00023818" "30" "140" "-4" "140" "-4" "c.140-4A>G" "r.spl?" "p.?" "" "0000536263" "00023819" "30" "140" "-4" "140" "-4" "c.140-4A>G" "r.spl?" "p.?" "" "0000536263" "00011459" "30" "140" "-4" "140" "-4" "c.140-4A>G" "r.spl?" "p.?" "" "0000536265" "00023818" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Ter)" "" "0000536265" "00023819" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Ter)" "" "0000536265" "00011459" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Ter)" "" "0000536266" "00023818" "70" "282" "0" "282" "0" "c.282C>G" "r.(?)" "p.(Cys94Trp)" "" "0000536266" "00023819" "70" "282" "0" "282" "0" "c.282C>G" "r.(?)" "p.(Cys94Trp)" "" "0000536266" "00011459" "70" "282" "0" "282" "0" "c.282C>G" "r.(?)" "p.(Cys94Trp)" "" "0000536267" "00023818" "90" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Asp106Asn)" "" "0000536267" "00023819" "90" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Asp106Asn)" "" "0000536267" "00011459" "90" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Asp106Asn)" "" "0000536268" "00023818" "90" "326" "1" "326" "1" "c.326+1G>A" "r.spl?" "p.?" "" "0000536268" "00023819" "90" "326" "1" "326" "1" "c.326+1G>A" "r.spl?" "p.?" "" "0000536268" "00011459" "90" "326" "1" "326" "1" "c.326+1G>A" "r.spl?" "p.?" "" "0000536269" "00023818" "90" "327" "-2" "327" "-2" "c.327-2A>T" "r.spl?" "p.?" "" "0000536269" "00023819" "90" "327" "-2" "327" "-2" "c.327-2A>T" "r.spl?" "p.?" "" "0000536269" "00011459" "90" "327" "-2" "327" "-2" "c.327-2A>T" "r.spl?" "p.?" "" "0000536270" "00023818" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Val135Met)" "" "0000536270" "00023819" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Val135Met)" "" "0000536270" "00011459" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Val135Met)" "" "0000536272" "00023818" "10" "534" "0" "534" "0" "c.534C>A" "r.(?)" "p.(Ser178=)" "" "0000536272" "00023819" "10" "534" "0" "534" "0" "c.534C>A" "r.(?)" "p.(Ser178=)" "" "0000536272" "00011459" "10" "534" "0" "534" "0" "c.534C>A" "r.(?)" "p.(Ser178=)" "" "0000536273" "00023818" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" "0000536273" "00023819" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" "0000536273" "00011459" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" "0000536274" "00023818" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Arg249Ter)" "" "0000536274" "00023819" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Arg249Ter)" "" "0000536274" "00011459" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Arg249Ter)" "" "0000536275" "00023818" "70" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Val262Met)" "" "0000536275" "00023819" "70" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Val262Met)" "" "0000536275" "00011459" "70" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Val262Met)" "" "0000536276" "00023818" "30" "886" "28" "886" "28" "c.886+28G>A" "r.(=)" "p.(=)" "" "0000536276" "00023819" "30" "886" "28" "886" "28" "c.886+28G>A" "r.(=)" "p.(=)" "" "0000536276" "00011459" "30" "914" "0" "914" "0" "c.914G>A" "r.(?)" "p.(Gly305Asp)" "" "0000611854" "00023818" "90" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Cys83Arg)" "" "0000611854" "00023819" "90" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Cys83Arg)" "" "0000611854" "00011459" "90" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Cys83Arg)" "" "0000611855" "00023818" "70" "807" "0" "807" "0" "c.807C>A" "r.(?)" "p.(Asn269Lys)" "" "0000611855" "00023819" "70" "807" "0" "807" "0" "c.807C>A" "r.(?)" "p.(Asn269Lys)" "" "0000611855" "00011459" "70" "807" "0" "807" "0" "c.807C>A" "r.(?)" "p.(Asn269Lys)" "" "0000622161" "00023818" "50" "886" "38" "886" "38" "c.886+38G>A" "r.(=)" "p.(=)" "" "0000622161" "00023819" "50" "886" "38" "886" "38" "c.886+38G>A" "r.(=)" "p.(=)" "" "0000622161" "00011459" "50" "919" "5" "919" "5" "c.919+5G>A" "r.spl?" "p.?" "" "0000653377" "00023818" "90" "819" "1" "819" "1" "c.819+1G>A" "r.spl?" "p.?" "" "0000653377" "00023819" "90" "819" "1" "819" "1" "c.819+1G>A" "r.spl?" "p.?" "" "0000653377" "00011459" "90" "819" "1" "819" "1" "c.819+1G>A" "r.spl?" "p.?" "" "0000653378" "00023818" "90" "169" "0" "169" "0" "c.169G>T" "r.(?)" "p.(Glu57*)" "" "0000653378" "00023819" "90" "169" "0" "169" "0" "c.169G>T" "r.(?)" "p.(Glu57*)" "" "0000653378" "00011459" "90" "169" "0" "169" "0" "c.169G>T" "r.(?)" "p.(Glu57*)" "9" "0000653379" "00023818" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" "0000653379" "00023819" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" "0000653379" "00011459" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "9" "0000653380" "00023818" "90" "793" "0" "793" "0" "c.793G>T" "r.(?)" "p.(Val265Phe)" "" "0000653380" "00023819" "90" "793" "0" "793" "0" "c.793G>T" "r.(?)" "p.(Val265Phe)" "" "0000653380" "00011459" "90" "793" "0" "793" "0" "c.793G>T" "r.(?)" "p.(Val265Phe)" "" "0000653381" "00023818" "90" "793" "0" "793" "0" "c.793G>C" "r.(?)" "p.(Val265Leu)" "" "0000653381" "00023819" "90" "793" "0" "793" "0" "c.793G>C" "r.(?)" "p.(Val265Leu)" "" "0000653381" "00011459" "90" "793" "0" "793" "0" "c.793G>C" "r.(?)" "p.(Val265Leu)" "" "0000653383" "00023818" "90" "806" "0" "811" "0" "c.806_811del" "r.(?)" "p.(Asn269_Gln270del)" "" "0000653383" "00023819" "90" "806" "0" "811" "0" "c.806_811del" "r.(?)" "p.(Asn269_Gln270del)" "" "0000653383" "00011459" "90" "806" "0" "811" "0" "c.806_811del" "r.(?)" "p.(Asn269_Gln270del)" "" "0000653384" "00023818" "90" "783" "0" "783" "0" "c.783dup" "r.(?)" "p.(Val262Argfs*90)" "" "0000653384" "00023819" "90" "783" "0" "783" "0" "c.783dup" "r.(?)" "p.(Val262Argfs*84)" "" "0000653384" "00011459" "90" "783" "0" "783" "0" "c.783dup" "r.(?)" "p.(Val262Argfs*36)" "" "0000653493" "00023818" "90" "793" "0" "793" "0" "c.793G>C" "r.(?)" "p.(Val265Leu)" "" "0000653493" "00023819" "90" "793" "0" "793" "0" "c.793G>C" "r.(?)" "p.(Val265Leu)" "" "0000653493" "00011459" "90" "793" "0" "793" "0" "c.793G>C" "r.(?)" "p.(Val265Leu)" "" "0000656220" "00023818" "90" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246Ter)" "" "0000656220" "00023819" "90" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246Ter)" "" "0000656220" "00011459" "90" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246Ter)" "" "0000690404" "00023818" "30" "36" "0" "36" "0" "c.36G>C" "r.(?)" "p.(Arg12Ser)" "" "0000690404" "00023819" "30" "36" "0" "36" "0" "c.36G>C" "r.(?)" "p.(Arg12Ser)" "" "0000690404" "00011459" "30" "36" "0" "36" "0" "c.36G>C" "r.(?)" "p.(Arg12Ser)" "" "0000690405" "00023818" "70" "443" "0" "443" "0" "c.443G>C" "r.(?)" "p.(Arg148Pro)" "" "0000690405" "00023819" "70" "443" "0" "443" "0" "c.443G>C" "r.(?)" "p.(Arg148Pro)" "" "0000690405" "00011459" "70" "443" "0" "443" "0" "c.443G>C" "r.(?)" "p.(Arg148Pro)" "" "0000690406" "00023818" "30" "560" "-11" "560" "-11" "c.560-11G>T" "r.(=)" "p.(=)" "" "0000690406" "00023819" "30" "560" "-11" "560" "-11" "c.560-11G>T" "r.(=)" "p.(=)" "" "0000690406" "00011459" "30" "560" "-11" "560" "-11" "c.560-11G>T" "r.(=)" "p.(=)" "" "0000722263" "00023818" "30" "140" "-4" "140" "-4" "c.140-4A>G" "r.spl?" "p.?" "" "0000722263" "00023819" "30" "140" "-4" "140" "-4" "c.140-4A>G" "r.spl?" "p.?" "" "0000722263" "00011459" "30" "140" "-4" "140" "-4" "c.140-4A>G" "r.spl?" "p.?" "" "0000803875" "00023818" "50" "302" "0" "302" "0" "c.302T>G" "r.(?)" "p.(Leu101Arg)" "" "0000803875" "00023819" "50" "302" "0" "302" "0" "c.302T>G" "r.(?)" "p.(Leu101Arg)" "" "0000803875" "00011459" "50" "302" "0" "302" "0" "c.302T>G" "r.(?)" "p.(Leu101Arg)" "" "0000803876" "00023818" "30" "507" "0" "507" "0" "c.507C>T" "r.(?)" "p.(Tyr169=)" "" "0000803876" "00023819" "30" "507" "0" "507" "0" "c.507C>T" "r.(?)" "p.(Tyr169=)" "" "0000803876" "00011459" "30" "507" "0" "507" "0" "c.507C>T" "r.(?)" "p.(Tyr169=)" "" "0000847303" "00023818" "90" "742" "-2" "742" "-2" "c.742-2A>G" "r.spl" "p.?" "" "0000847303" "00023819" "90" "742" "-2" "742" "-2" "c.742-2A>G" "r.spl" "p.?" "" "0000847303" "00011459" "90" "742" "-2" "742" "-2" "c.742-2A>G" "r.spl" "p.?" "" "0000861393" "00023818" "30" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Ser184=)" "" "0000861393" "00023819" "30" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Ser184=)" "" "0000861393" "00011459" "30" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Ser184=)" "" "0000888617" "00023818" "30" "60" "0" "60" "0" "c.60C>T" "r.(?)" "p.(Asp20=)" "" "0000888617" "00023819" "30" "60" "0" "60" "0" "c.60C>T" "r.(?)" "p.(Asp20=)" "" "0000888617" "00011459" "30" "60" "0" "60" "0" "c.60C>T" "r.(?)" "p.(Asp20=)" "" "0000888618" "00023818" "70" "256" "0" "256" "0" "c.256T>G" "r.(?)" "p.(Cys86Gly)" "" "0000888618" "00023819" "70" "256" "0" "256" "0" "c.256T>G" "r.(?)" "p.(Cys86Gly)" "" "0000888618" "00011459" "70" "256" "0" "256" "0" "c.256T>G" "r.(?)" "p.(Cys86Gly)" "" "0000888619" "00023818" "50" "305" "0" "305" "0" "c.305A>G" "r.(?)" "p.(Tyr102Cys)" "" "0000888619" "00023819" "50" "305" "0" "305" "0" "c.305A>G" "r.(?)" "p.(Tyr102Cys)" "" "0000888619" "00011459" "50" "305" "0" "305" "0" "c.305A>G" "r.(?)" "p.(Tyr102Cys)" "" "0000888620" "00023818" "90" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Gln109*)" "" "0000888620" "00023819" "90" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Gln109*)" "" "0000888620" "00011459" "90" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Gln109*)" "" "0000888621" "00023818" "50" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Ser186=)" "" "0000888621" "00023819" "50" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Ser186=)" "" "0000888621" "00011459" "50" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Ser186=)" "" "0000888622" "00023818" "10" "726" "0" "726" "0" "c.726G>C" "r.(?)" "p.(Ser242=)" "" "0000888622" "00023819" "10" "726" "0" "726" "0" "c.726G>C" "r.(?)" "p.(Ser242=)" "" "0000888622" "00011459" "10" "726" "0" "726" "0" "c.726G>C" "r.(?)" "p.(Ser242=)" "" "0000888623" "00023818" "30" "886" "8" "886" "8" "c.886+8G>A" "r.(=)" "p.(=)" "" "0000888623" "00023819" "30" "886" "8" "886" "8" "c.886+8G>A" "r.(=)" "p.(=)" "" "0000888623" "00011459" "30" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Pro298=)" "" "0000888624" "00023818" "30" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Pro339=)" "" "0000888624" "00023819" "30" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Pro339=)" "" "0000888624" "00011459" "30" "1050" "0" "1050" "0" "c.1050G>A" "r.(?)" "p.(Pro350=)" "" "0000913080" "00023818" "90" "140" "-2" "140" "-2" "c.140-2A>G" "r.spl?" "p.?" "" "0000913080" "00023819" "90" "140" "-2" "140" "-2" "c.140-2A>G" "r.spl?" "p.?" "" "0000913080" "00011459" "90" "140" "-2" "140" "-2" "c.140-2A>G" "r.spl?" "p.?" "" "0000913081" "00023818" "90" "416" "0" "416" "0" "c.416del" "r.(?)" "p.(Gly139Alafs*41)" "" "0000913081" "00023819" "90" "416" "0" "416" "0" "c.416del" "r.(?)" "p.(Gly139Alafs*41)" "" "0000913081" "00011459" "90" "416" "0" "416" "0" "c.416del" "r.(?)" "p.(Gly139Alafs*41)" "" "0000913082" "00023818" "30" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(Arg377=)" "" "0000913082" "00023819" "30" "1152" "0" "1152" "0" "c.1152C>T" "r.(?)" "p.(Arg384=)" "" "0000913082" "00011459" "30" "1164" "0" "1164" "0" "c.1164C>T" "r.(?)" "p.(Arg388=)" "" "0000924960" "00023818" "70" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Cys103Tyr)" "" "0000924960" "00023819" "70" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Cys103Tyr)" "" "0000924960" "00011459" "70" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Cys103Tyr)" "" "0000939848" "00011459" "70" "745" "0" "745" "0" "c.745C>G" "r.(?)" "p.(Arg249Gly)" "5" "0000949186" "00023818" "50" "188" "0" "188" "0" "c.188T>C" "r.(?)" "p.(Ile63Thr)" "" "0000949186" "00023819" "50" "188" "0" "188" "0" "c.188T>C" "r.(?)" "p.(Ile63Thr)" "" "0000949186" "00011459" "50" "188" "0" "188" "0" "c.188T>C" "r.(?)" "p.(Ile63Thr)" "" "0000949187" "00023818" "50" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Cys80Tyr)" "" "0000949187" "00023819" "50" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Cys80Tyr)" "" "0000949187" "00011459" "50" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Cys80Tyr)" "" "0000965174" "00023818" "50" "28" "0" "29" "0" "c.28_29delinsAA" "r.(?)" "p.(Leu10Lys)" "" "0000965174" "00023819" "50" "28" "0" "29" "0" "c.28_29delinsAA" "r.(?)" "p.(Leu10Lys)" "" "0000965174" "00011459" "50" "28" "0" "29" "0" "c.28_29delinsAA" "r.(?)" "p.(Leu10Lys)" "" "0000965175" "00023818" "30" "1030" "40" "1030" "40" "c.1030+40A>C" "r.(=)" "p.(=)" "" "0000965175" "00023819" "30" "1051" "19" "1051" "19" "c.1051+19A>C" "r.(=)" "p.(=)" "" "0000965175" "00011459" "30" "1063" "40" "1063" "40" "c.1063+40A>C" "r.(=)" "p.(=)" "" "0000978395" "00023818" "50" "745" "0" "745" "0" "c.745C>A" "r.(?)" "p.(=)" "" "0000978395" "00023819" "50" "745" "0" "745" "0" "c.745C>A" "r.(?)" "p.(=)" "" "0000978395" "00011459" "50" "745" "0" "745" "0" "c.745C>A" "r.(?)" "p.(=)" "" "0000978396" "00023818" "30" "886" "10" "886" "11" "c.886+10_886+11dup" "r.(=)" "p.(=)" "" "0000978396" "00023819" "30" "886" "10" "886" "11" "c.886+10_886+11dup" "r.(=)" "p.(=)" "" "0000978396" "00011459" "30" "896" "0" "897" "0" "c.896_897dup" "r.(?)" "p.(Pro300Glyfs*18)" "" "0000978397" "00023818" "30" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Asp331Asn)" "" "0000978397" "00023819" "30" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Asp331Asn)" "" "0000978397" "00011459" "30" "1024" "0" "1024" "0" "c.1024G>A" "r.(?)" "p.(Asp342Asn)" "" "0000987546" "00023818" "90" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Gln229*)" "" "0000987546" "00023819" "90" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Gln229*)" "" "0000987546" "00011459" "90" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Gln229*)" "" "0001014498" "00023818" "30" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Gly210Arg)" "" "0001014498" "00023819" "30" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Gly210Arg)" "" "0001014498" "00011459" "30" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Gly210Arg)" "" "0001019102" "00023819" "50" "-226" "0" "-226" "0" "c.-226G>A" "r.(?)" "p.(?)" "" "0001021204" "00023818" "90" "58" "0" "100" "0" "c.58_100dup" "r.(?)" "p.(Ala34Glyfs*128)" "1" "0001021204" "00023819" "90" "58" "0" "100" "0" "c.58_100dup" "r.(?)" "p.(Ala34Glyfs*128)" "" "0001021204" "00011459" "90" "58" "0" "100" "0" "c.58_100dup" "r.(?)" "p.(Ala34Glyfs*128)" "" "0001037181" "00023818" "90" "706" "0" "706" "0" "c.706G>C" "r.(?)" "p.(Ala236Pro)" "" "0001037181" "00023819" "90" "706" "0" "706" "0" "c.706G>C" "r.(?)" "p.(Ala236Pro)" "" "0001037181" "00011459" "90" "706" "0" "706" "0" "c.706G>C" "r.(?)" "p.(Ala236Pro)" "" "0001037182" "00023818" "30" "886" "7" "886" "7" "c.886+7C>T" "r.(=)" "p.(=)" "" "0001037182" "00023819" "30" "886" "7" "886" "7" "c.886+7C>T" "r.(=)" "p.(=)" "" "0001037182" "00011459" "30" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Pro298Leu)" "" "0001037183" "00023818" "30" "886" "41" "886" "41" "c.886+41G>A" "r.(=)" "p.(=)" "" "0001037183" "00023819" "30" "886" "41" "886" "41" "c.886+41G>A" "r.(=)" "p.(=)" "" "0001037183" "00011459" "30" "919" "8" "919" "8" "c.919+8G>A" "r.(=)" "p.(=)" "" "0001037184" "00023818" "30" "1030" "28" "1030" "28" "c.1030+28C>T" "r.(=)" "p.(=)" "" "0001037184" "00023819" "30" "1051" "7" "1051" "7" "c.1051+7C>T" "r.(=)" "p.(=)" "" "0001037184" "00011459" "30" "1063" "28" "1063" "28" "c.1063+28C>T" "r.(=)" "p.(=)" "" "0001046176" "00023818" "90" "815" "0" "815" "0" "c.815dup" "r.(?)" "p.(Met274Aspfs*78)" "" "0001046176" "00023819" "90" "815" "0" "815" "0" "c.815dup" "r.(?)" "p.(Met274Aspfs*72)" "" "0001046176" "00011459" "90" "815" "0" "815" "0" "c.815dup" "r.(?)" "p.(Met274Aspfs*24)" "" "0001053344" "00023818" "50" "878" "0" "878" "0" "c.878T>G" "r.(?)" "p.(Leu293Arg)" "" "0001053344" "00023819" "50" "878" "0" "878" "0" "c.878T>G" "r.(?)" "p.(Leu293Arg)" "" "0001053344" "00011459" "50" "878" "0" "878" "0" "c.878T>G" "r.(?)" "p.(Leu293Arg)" "" "0001053345" "00023818" "50" "958" "0" "958" "0" "c.958G>A" "r.(?)" "p.(Val320Met)" "" "0001053345" "00023819" "50" "958" "0" "958" "0" "c.958G>A" "r.(?)" "p.(Val320Met)" "" "0001053345" "00011459" "50" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Val331Met)" "" "0001059702" "00011459" "70" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 182 "{{screeningid}}" "{{variantid}}" "0000000995" "0000018070" "0000000996" "0000018071" "0000000997" "0000018072" "0000001007" "0000018113" "0000001008" "0000018114" "0000001009" "0000018115" "0000001010" "0000018116" "0000001011" "0000018117" "0000001012" "0000018118" "0000001013" "0000018119" "0000001014" "0000018120" "0000001015" "0000018121" "0000001016" "0000018122" "0000001017" "0000018123" "0000001018" "0000018124" "0000001019" "0000018125" "0000001020" "0000018126" "0000001021" "0000018127" "0000001022" "0000018128" "0000001023" "0000018129" "0000001024" "0000018130" "0000001025" "0000018131" "0000001026" "0000018132" "0000001027" "0000018133" "0000001028" "0000018134" "0000001029" "0000018135" "0000001030" "0000018136" "0000001031" "0000018137" "0000001032" "0000018138" "0000001033" "0000018139" "0000001034" "0000018140" "0000001035" "0000018141" "0000001036" "0000018142" "0000001037" "0000018143" "0000001038" "0000018144" "0000001039" "0000018145" "0000001040" "0000018146" "0000001041" "0000018147" "0000001042" "0000018148" "0000001043" "0000018149" "0000001044" "0000018150" "0000001045" "0000018151" "0000001046" "0000018152" "0000001047" "0000018153" "0000001048" "0000018154" "0000001049" "0000018155" "0000001050" "0000018156" "0000001051" "0000018157" "0000001052" "0000018158" "0000001053" "0000018159" "0000001054" "0000018160" "0000001055" "0000018161" "0000001056" "0000018162" "0000001057" "0000018163" "0000001058" "0000018164" "0000001059" "0000018165" "0000001060" "0000018166" "0000001061" "0000018167" "0000001062" "0000018168" "0000001063" "0000018169" "0000001064" "0000018170" "0000001065" "0000018171" "0000001066" "0000018172" "0000001067" "0000018173" "0000001068" "0000018174" "0000001069" "0000018175" "0000001070" "0000018176" "0000001071" "0000018177" "0000001072" "0000018178" "0000001073" "0000018179" "0000001074" "0000018180" "0000001075" "0000018181" "0000001076" "0000018182" "0000001077" "0000018183" "0000001078" "0000018184" "0000001079" "0000018185" "0000001080" "0000018186" "0000001081" "0000018187" "0000001082" "0000018188" "0000001083" "0000018189" "0000001084" "0000018190" "0000001085" "0000018191" "0000001086" "0000018192" "0000001087" "0000018193" "0000001088" "0000018194" "0000001089" "0000018195" "0000001090" "0000018196" "0000001091" "0000018197" "0000001092" "0000018198" "0000001093" "0000018199" "0000001094" "0000018200" "0000001095" "0000018201" "0000001096" "0000018202" "0000001097" "0000018203" "0000001098" "0000018204" "0000001099" "0000018205" "0000001100" "0000018206" "0000001101" "0000018207" "0000001102" "0000018208" "0000001103" "0000018209" "0000001104" "0000018210" "0000001105" "0000018211" "0000001106" "0000018212" "0000001107" "0000018213" "0000001108" "0000018214" "0000001109" "0000018215" "0000001110" "0000018216" "0000001111" "0000018217" "0000001112" "0000018218" "0000001113" "0000018219" "0000001114" "0000018220" "0000001115" "0000018221" "0000001116" "0000018222" "0000001117" "0000018223" "0000001118" "0000018224" "0000001119" "0000018225" "0000001120" "0000018226" "0000001121" "0000018227" "0000001122" "0000018228" "0000001123" "0000018229" "0000001124" "0000018230" "0000001125" "0000018231" "0000001126" "0000018232" "0000001127" "0000018233" "0000001128" "0000018234" "0000001129" "0000018235" "0000001130" "0000018236" "0000001131" "0000018237" "0000001132" "0000018238" "0000001133" "0000018239" "0000001134" "0000018240" "0000001135" "0000018241" "0000001136" "0000018242" "0000001137" "0000018243" "0000001138" "0000018244" "0000001139" "0000018245" "0000001140" "0000018246" "0000001141" "0000018247" "0000001142" "0000018248" "0000001143" "0000018249" "0000001144" "0000018250" "0000001145" "0000018251" "0000001146" "0000018252" "0000001147" "0000018253" "0000001148" "0000018254" "0000001149" "0000018255" "0000001150" "0000018256" "0000029724" "0000055811" "0000029726" "0000055810" "0000029767" "0000055813" "0000029768" "0000055812" "0000029776" "0000055825" "0000029777" "0000055831" "0000029779" "0000055833" "0000029780" "0000055834" "0000029781" "0000055835" "0000029782" "0000055836" "0000029783" "0000055837" "0000029784" "0000055838" "0000029785" "0000055839" "0000029786" "0000055840" "0000029787" "0000055841" "0000029788" "0000055842" "0000029864" "0000055957" "0000029866" "0000055958" "0000079963" "0000129944" "0000133606" "0000222847" "0000133607" "0000222848" "0000214698" "0000447051" "0000296684" "0000653377" "0000296685" "0000653378" "0000296686" "0000653379" "0000296687" "0000653380" "0000296688" "0000653381" "0000296690" "0000653383" "0000296691" "0000653384" "0000296784" "0000653493" "0000316455" "0000847303" "0000441906" "0000939848" "0000453044" "0000987546" "0000461835" "0001021204" "0000471554" "0001059702"